PKHD1L1

PKHD1L1 PKHD1 like 1

Annotation transcript: NM_177531.6

5395 unique variant annotations were identified in 862 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
8-110374813-G-T c.4G>T p.G2* Nonsense 1/78 - 1
8-110374814-G-A c.5G>A p.G2E Missense 1/78 - 1
8-110374818-C-T c.9C>T p.H3= Synonymous 1/78 - 1
8-110374820-T-G c.11T>G p.L4R Missense 1/78 - 1
8-110374822-T-A c.13T>A p.W5R Missense 1/78 - 1
8-110374822-T-C c.13T>C p.W5R Missense 1/78 - 1
8-110374828-C-T c.19C>T p.L7= Synonymous 1/78 - 1
8-110374829-T-C c.20T>C p.L7P Missense 1/78 - 1
8-110374831-GGT-TGG c.22_24delinsTGG p.G8W Missense 1/78 - 1
8-110374832-G-A c.23G>A p.G8D Missense 1/78 - 1
8-110374840-G-A c.31G>A p.G11S Missense 1/78 - 1
8-110374841-G-A c.32G>A p.G11D Missense 1/78 - 1
8-110374842-C-A c.33C>A p.G11= Synonymous 1/78 - 1
8-110374845-C-A c.36C>A p.L12= Synonymous 1/78 - 2
8-110374845-C-G c.36C>G p.L12= Synonymous 1/78 - 1
8-110374845-C-T c.36C>T p.L12= Synonymous 1/78 - 2
8-110374846-T-C c.37T>C p.C13R Missense 1/78 - 1
8-110374847-G-A c.38G>A p.C13Y Missense 1/78 - 1
8-110374849-G-T c.40G>T p.G14W Missense 1/78 - 1
8-110374853-T-A c.44T>A p.L15Q Missense 1/78 - 2
8-110374851-GCTGCTC-G c.46_51del p.L16_L17del InFrameDeletion 1/78 - 1
8-110374855-CTC-ATG c.46_48delinsATG p.L16M Missense 1/78 - 1
8-110374857-C-A c.48C>A p.L16= Synonymous 1/78 - 2
8-110374858-C-T c.49C>T p.L17= Synonymous 1/78 - 1
8-110374860-G-A c.51G>A p.L17= Synonymous 1/78 - 1
8-110374862-G-A c.53G>A p.C18Y Missense 1/78 - 1
8-110374863-T-G c.54T>G p.C18W Missense 1/78 - 1
8-110374864-GC-AA c.55_56delinsAA p.A19N Missense 1/78 - 4
8-110374864-GC-CA c.55_56delinsCA p.A19H Missense 1/78 - 2
8-110374864-GCC-AAG c.55_57delinsAAG p.A19K Missense 1/78 - 2
8-110374864-GCC-ATG c.55_57delinsATG p.A19M Missense 1/78 - 1
8-110374864-GCC-TGG c.55_57delinsTGG p.A19W Missense 1/78 - 1
8-110374864-GC-TA c.55_56delinsTA p.A19Y Missense 1/78 - 1
8-110374865-C-A c.56C>A p.A19D Missense 1/78 - 4
8-110374865-CC-AG c.56_57delinsAG p.A19E Missense 1/78 - 3
8-110374865-C-G c.56C>G p.A19G Missense 1/78 - 2
8-110374865-C-T c.56C>T p.A19V Missense 1/78 - 1
8-110374866-C-A c.57C>A p.A19= Synonymous 1/78 - 2
8-110374866-C-G c.57C>G p.A19= Synonymous 1/78 - 2
8-110374866-C-T c.57C>T p.A19= Synonymous 1/78 - 2
8-110374867-CG-C c.58del p.A20Rfs*10 Frameshift 1/78 - 1
8-110374867-G-A c.58G>A p.A20T Missense 1/78 - 1
8-110374867-GCG-TGT c.58_60delinsTGT p.A20C Missense 1/78 - 3
8-110374867-GCG-TTT c.58_60delinsTTT p.A20F Missense 1/78 - 3
8-110374868-CG-AC c.59_60delinsAC p.A20D Missense 1/78 - 2
8-110374869-G-A c.60G>A p.A20= Synonymous 1/78 - 1
8-110374870-G-A c.61G>A p.D21N Missense 1/78 - 1
8-110374873-C-T c.64C>T p.P22S Missense 1/78 - 1
8-110374874-C-T c.65C>T p.P22L Missense 1/78 - 1
8-110374875-C-T c.66C>T p.P22= Synonymous 1/78 - 2
8-110374877-G-A c.68G>A p.S23N Missense 1/78 - 1
8-110374877-G-T c.68G>T p.S23I Missense 1/78 - 1
8-110374880-ACAGG-A c.71_73+1del - SpliceDonorDeletion 1/78 1/77 1
8-110374882-G-A c.73G>A p.D25N Missense 1/78 - 1
8-110374882-G-T c.73G>T p.D25Y Missense 1/78 - 2
8-110375017-G-A c.73+135G>A - IntronicSNV - 1/77 1
8-110375160-C-T c.73+278C>T - IntronicSNV - 1/77 1
8-110376776-A-G c.74A>G p.D25G Missense 2/78 - 1
8-110376778-G-A c.76G>A p.G26S Missense 2/78 - 2
8-110376782-C-T c.80C>T p.S27F Missense 2/78 - 3
8-110376784-C-A c.82C>A p.Q28K Missense 2/78 - 3
8-110376784-C-G c.82C>G p.Q28E Missense 2/78 - 3
8-110376785-A-T c.83A>T p.Q28L Missense 2/78 - 1
8-110376786-A-T c.84A>T p.Q28H Missense 2/78 - 1
8-110376787-A-G c.85A>G p.I29V Missense 2/78 - 1
8-110376787-A-T c.85A>T p.I29L Missense 2/78 - 1
8-110376788-T-C c.86T>C p.I29T Missense 2/78 - 1
8-110376790-A-T c.88A>T p.I30F Missense 2/78 - 1
8-110376792-C-A c.90C>A p.I30= Synonymous 2/78 - 1
8-110376792-C-T c.90C>T p.I30= Synonymous 2/78 - 3
8-110376793-C-A c.91C>A p.P31T Missense 2/78 - 1
8-110376794-C-G c.92C>G p.P31R Missense 2/78 - 1
8-110376794-C-T c.92C>T p.P31L Missense 2/78 - 1
8-110376795-C-A c.93C>A p.P31= Synonymous 2/78 - 1
8-110376795-C-G c.93C>G p.P31= Synonymous 2/78 - 1
8-110376795-C-T c.93C>T p.P31= Synonymous 2/78 - 1
8-110376797-A-G c.95A>G p.K32R Missense 2/78 - 1
8-110376804-A-C c.102A>C p.T34= Synonymous 2/78 - 1
8-110376804-A-G c.102A>G p.T34= Synonymous 2/78 - 1
8-110376804-A-T c.102A>T p.T34= Synonymous 2/78 - 2
8-110376803-CAGA-C c.103_105del p.E35del InFrameDeletion 2/78 - 1
8-110376805-G-A c.103G>A p.E35K Missense 2/78 - 4
8-110376805-G-T c.103G>T p.E35* Nonsense 2/78 - 1
8-110376809-T-C c.107T>C p.I36T Missense 2/78 - 1
8-110376812-T-C c.110T>C p.I37T Missense 2/78 - 1
8-110376812-T-G c.110T>G p.I37R Missense 2/78 - 1
8-110376813-A-G c.111A>G p.I37M Missense 2/78 - 2
8-110376813-A-T c.111A>T p.I37= Synonymous 2/78 - 1
8-110376814-C-G c.112C>G p.P38A Missense 2/78 - 2
8-110376815-C-A c.113C>A p.P38H Missense 2/78 - 1
8-110376817-A-G c.115A>G p.K39E Missense 2/78 - 1
8-110376818-A-C c.116A>C p.K39T Missense 2/78 - 1
8-110376818-A-T c.116A>T p.K39I Missense 2/78 - 2
8-110376821-A-G c.119A>G p.Y40C Missense 2/78 - 1
8-110376822-T-A c.120T>A p.Y40* Nonsense 2/78 - 1
8-110376824-G-A c.122G>A p.G41D Missense 2/78 - 1
8-110376825-C-T c.123C>T p.G41= Synonymous 2/78 - 2
8-110376826-AGT-TGG c.124_126delinsTGG p.S42W Missense 2/78 - 1
8-110376827-G-A c.125G>A p.S42N Missense 2/78 - 2
8-110376831-A-G c.129A>G p.I43M Missense 2/78 - 1
8-110376835-G-T c.133G>T p.G45* Nonsense 2/78 - 1
8-110376836-G-A c.134G>A p.G45E Missense 2/78 - 1
8-110376838-G-T c.136G>T p.A46S Missense 2/78 - 1
8-110376839-C-T c.137C>T p.A46V Missense 2/78 - 1
8-110376841-A-G c.139A>G p.T47A Missense 2/78 - 1
8-110376842-C-A c.140C>A p.T47K Missense 2/78 - 1
8-110376844-AG-CA c.142_143delinsCA p.R48Q Missense 2/78 - 2
8-110376845-G-A c.143G>A p.R48K Missense 2/78 - 1
8-110376846-G-A c.144G>A p.R48= Synonymous 2/78 - 3
8-110376848-T-A c.146T>A p.L49Q Missense 2/78 - 1
8-110376847-C-T c.145C>T p.L49= Synonymous 2/78 - 1
8-110376849-G-A c.147G>A p.L49= Synonymous 2/78 - 1
8-110376849-G-C c.147G>C p.L49= Synonymous 2/78 - 1
8-110376849-G-T c.147G>T p.L49= Synonymous 2/78 - 1
8-110376850-A-G c.148A>G p.T50A Missense 2/78 - 1
8-110376855-A-G c.153A>G p.I51M Missense 2/78 - 1
8-110376857-G-A c.155G>A p.R52K Missense 2/78 - 3
8-110376856-A-C c.154A>C p.R52= Synonymous 2/78 - 1
8-110376858-A-G c.156A>G p.R52= Synonymous 2/78 - 1
8-110376859-G-A c.157G>A p.G53R Missense 2/78 - 5
8-110376859-GGG-TGT c.157_159delinsTGT p.G53C Missense 2/78 - 1
8-110376860-G-A c.158G>A p.G53E Missense 2/78 - 1
8-110376860-GG-AC c.158_159delinsAC p.G53D Missense 2/78 - 1
8-110376860-G-T c.158G>T p.G53V Missense 2/78 - 1
8-110376861-G-A c.159G>A p.G53= Synonymous 2/78 - 10
8-110376861-G-C c.159G>C p.G53= Synonymous 2/78 - 5
8-110376861-G-T c.159G>T p.G53= Synonymous 2/78 - 5
8-110376862-G-A c.160G>A p.E54K Missense 2/78 - 2
8-110376864-A-T c.162A>T p.E54D Missense 2/78 - 1
8-110376865-G-T c.163G>T p.G55C Missense 2/78 - 1
8-110376871-G-A c.163+6G>A - IntronicSNV - 2/77 1
8-110376875-CTT-C c.163+27_163+28del - IntronicDeletion - 2/77 2
8-110376875-CT-C c.163+28del - IntronicDeletion - 2/77 3
8-110377326-G-T c.163+461G>T - IntronicSNV - 2/77 1
8-110382387-G-A c.163+5522G>A - IntronicSNV - 2/77 1
8-110382387-G-T c.163+5522G>T - IntronicSNV - 2/77 1
8-110383658-G-A c.163+6793G>A - IntronicSNV - 2/77 1
8-110386543-G-A c.164-7056G>A - IntronicSNV - 2/77 1
8-110393599-G-T c.164G>T p.G55V Missense 3/78 - 1
8-110393600-T-A c.165T>A p.G55= Synonymous 3/78 - 1
8-110393601-T-G c.166T>G p.F56V Missense 3/78 - 1
8-110393605-C-T c.170C>T p.S57F Missense 3/78 - 2
8-110393607-C-A c.172C>A p.Q58K Missense 3/78 - 1
8-110393607-C-T c.172C>T p.Q58* Nonsense 3/78 - 2
8-110393608-A-T c.173A>T p.Q58L Missense 3/78 - 1
8-110393609-A-C c.174A>C p.Q58H Missense 3/78 - 2
8-110393609-A-G c.174A>G p.Q58= Synonymous 3/78 - 1
8-110393609-A-T c.174A>T p.Q58H Missense 3/78 - 2
8-110393610-GCA-TTT c.175_177delinsTTT p.A59F Missense 3/78 - 1
8-110393611-C-G c.176C>G p.A59G Missense 3/78 - 1
8-110393616-C-A c.181C>A p.Q61K Missense 3/78 - 1
8-110393616-C-T c.181C>T p.Q61* Nonsense 3/78 - 2
8-110393617-A-C c.182A>C p.Q61P Missense 3/78 - 1
8-110393617-A-G c.182A>G p.Q61R Missense 3/78 - 1
8-110393619-T-C c.184T>C p.F62L Missense 3/78 - 1
8-110393621-T-A c.186T>A p.F62L Missense 3/78 - 1
8-110393621-T-G c.186T>G p.F62L Missense 3/78 - 1
8-110393624-C-A c.189C>A p.N63K Missense 3/78 - 1
8-110393628-G-A c.193G>A p.G65R Missense 3/78 - 1
8-110393629-G-A c.194G>A p.G65E Missense 3/78 - 2
8-110393631-G-A c.196G>A p.V66I Missense 3/78 - 1
8-110393633-T-C c.198T>C p.V66= Synonymous 3/78 - 1
8-110393634-G-A c.199G>A p.D67N Missense 3/78 - 2
8-110393640-GCT-AAG c.205_207delinsAAG p.A69K Missense 3/78 - 1
8-110393640-G-T c.205G>T p.A69S Missense 3/78 - 3
8-110393641-C-T c.206C>T p.A69V Missense 3/78 - 1
8-110393645-G-C c.210G>C p.E70D Missense 3/78 - 1
8-110393645-G-T c.210G>T p.E70D Missense 3/78 - 1
8-110393650-G-A c.215G>A p.G72E Missense 3/78 - 1
8-110393653-A-G c.218A>G p.N73S Missense 3/78 - 1
8-110393654-C-A c.219C>A p.N73K Missense 3/78 - 1
8-110393654-C-G c.219C>G p.N73K Missense 3/78 - 1
8-110393655-AG-CT c.220_221inv p.S74L Missense 3/78 - 1
8-110393655-AG-TT c.220_221delinsTT p.S74F Missense 3/78 - 1
8-110393657-T-C c.222T>C p.S74= Synonymous 3/78 - 1
8-110393661-C-T c.226C>T p.Q76* Nonsense 3/78 - 1
8-110393664-T-C c.229T>C p.L77= Synonymous 3/78 - 1
8-110393666-A-G c.231A>G p.L77= Synonymous 3/78 - 2
8-110393670-TC-AA c.235_236delinsAA p.S79N Missense 3/78 - 1
8-110393670-TC-CT c.235_236delinsCT p.S79L Missense 3/78 - 1
8-110393670-T-G c.235T>G p.S79A Missense 3/78 - 1
8-110393671-C-A c.236C>A p.S79Y Missense 3/78 - 1
8-110393671-C-T c.236C>T p.S79F Missense 3/78 - 1
8-110393673-T-G c.238T>G p.S80A Missense 3/78 - 1
8-110393674-C-T c.239C>T p.S80F Missense 3/78 - 1
8-110393681-G-C c.246G>C p.Q82H Missense 3/78 - 1
8-110393681-G-T c.246G>T p.Q82H Missense 3/78 - 1
8-110393683-C-T c.248C>T p.S83L Missense 3/78 - 1
8-110393685-A-C c.250A>C p.I84L Missense 3/78 - 1
8-110393685-A-G c.250A>G p.I84V Missense 3/78 - 1
8-110393691-TG-AC c.256_257delinsAC p.C86T Missense 3/78 - 1
8-110393692-G-A c.257G>A p.C86Y Missense 3/78 - 2
8-110393692-G-T c.257G>T p.C86F Missense 3/78 - 1
8-110393697-G-T c.262G>T p.V88L Missense 3/78 - 1
8-110393699-A-T c.264A>T p.V88= Synonymous 3/78 - 1
8-110393706-G-A c.271G>A p.D91N Missense 3/78 - 5
8-110393706-G-T c.271G>T p.D91Y Missense 3/78 - 2
8-110393708-T-C c.273T>C p.D91= Synonymous 3/78 - 1
8-110393710-C-G c.275C>G p.A92G Missense 3/78 - 1
8-110393711-A-T c.276A>T p.A92= Synonymous 3/78 - 1
8-110393715-C-T c.280C>T p.H94Y Missense 3/78 - 1
8-110393718-T-C c.283T>C p.S95P Missense 3/78 - 1
8-110393719-C-A c.284C>A p.S95* Nonsense 3/78 - 1
8-110393719-C-G c.284C>G p.S95* Nonsense 3/78 - 2
8-110393719-CAACTCAAATT-C c.286_295del p.T96Hfs*50 Frameshift 3/78 - 2
8-110393722-C-T c.287C>T p.T96I Missense 3/78 - 1
8-110393727-A-G c.292A>G p.I98V Missense 3/78 - 1
8-110393728-T-C c.293T>C p.I98T Missense 3/78 - 1
8-110393731-C-T c.296C>T p.T99I Missense 3/78 - 1
8-110393732-A-C c.297A>C p.T99= Synonymous 3/78 - 1
8-110393732-A-G c.297A>G p.T99= Synonymous 3/78 - 3
8-110393732-A-T c.297A>T p.T99= Synonymous 3/78 - 1
8-110393733-T-C c.298T>C p.C100R Missense 3/78 - 1
8-110393733-T-G c.298T>G p.C100G Missense 3/78 - 1
8-110393734-G-A c.299G>A p.C100Y Missense 3/78 - 2
8-110393735-C-G c.300C>G p.C100W Missense 3/78 - 1
8-110393736-CT-C c.301del p.Y101Ifs*48 Frameshift 3/78 - 1
8-110393739-A-G c.304A>G p.T102A Missense 3/78 - 2
8-110393740-C-A c.305C>A p.T102N Missense 3/78 - 1
8-110393742-A-G c.307A>G p.R103G Missense 3/78 - 1
8-110393744-G-A c.308+1G>A - IntronicSNV - 3/77 1
8-110393742-A-C c.307A>C p.R103= Synonymous 3/78 - 1
8-110394692-A-G c.309A>G p.R103= Synonymous 4/78 - 1
8-110394693-G-A c.310G>A p.A104T Missense 4/78 - 2
8-110394693-G-T c.310G>T p.A104S Missense 4/78 - 1
8-110394694-C-A c.311C>A p.A104E Missense 4/78 - 1
8-110394698-G-A c.315G>A p.M105I Missense 4/78 - 2
8-110394698-G-T c.315G>T p.M105I Missense 4/78 - 1
8-110394700-C-G c.317C>G p.P106R Missense 4/78 - 1
8-110394700-C-T c.317C>T p.P106L Missense 4/78 - 6
8-110394704-A-C c.321A>C p.E107D Missense 4/78 - 1
8-110394704-A-T c.321A>T p.E107D Missense 4/78 - 1
8-110394707-T-C c.324T>C p.D108= Synonymous 4/78 - 1
8-110394708-TC-AT c.325_326delinsAT p.S109I Missense 4/78 - 2
8-110394709-C-A c.326C>A p.S109Y Missense 4/78 - 1
8-110394709-C-T c.326C>T p.S109F Missense 4/78 - 4
8-110394710-C-T c.327C>T p.S109= Synonymous 4/78 - 1
8-110394717-GTT-TAA c.334_336delinsTAA p.V112* Nonsense 4/78 - 1
8-110394721-G-A c.338G>A p.R113K Missense 4/78 - 1
8-110394722-A-T c.339A>T p.R113S Missense 4/78 - 1
8-110394723-G-C c.340G>C p.V114L Missense 4/78 - 1
8-110394724-T-A c.341T>A p.V114D Missense 4/78 - 1
8-110394724-T-C c.341T>C p.V114A Missense 4/78 - 1
8-110394726-A-T c.343A>T p.S115C Missense 4/78 - 2
8-110394727-G-T c.344G>T p.S115I Missense 4/78 - 2
8-110394729-GTG-ATC c.346_348delinsATC p.V116I Missense 4/78 - 1
8-110394730-T-C c.347T>C p.V116A Missense 4/78 - 2
8-110394730-T-G c.347T>G p.V116G Missense 4/78 - 1
8-110394731-G-T c.348G>T p.V116= Synonymous 4/78 - 1
8-110394733-A-G c.350A>G p.D117G Missense 4/78 - 2
8-110394735-G-A c.352G>A p.G118R Missense 4/78 - 6
8-110394735-G-T c.352G>T p.G118W Missense 4/78 - 3
8-110394739-TT-AG c.356_357delinsAG p.V119E Missense 4/78 - 1
8-110394741-C-G c.358C>G p.P120A Missense 4/78 - 1
8-110394741-C-T c.358C>T p.P120S Missense 4/78 - 1
8-110394742-C-T c.359C>T p.P120L Missense 4/78 - 2
8-110394748-C-G c.365C>G p.T122R Missense 4/78 - 4
8-110394748-CG-TC c.365_366delinsTC p.T122I Missense 4/78 - 1
8-110394748-C-T c.365C>T p.T122M Missense 4/78 - 3
8-110394750-G-A c.367G>A p.E123K Missense 4/78 - 1
8-110394751-A-G c.368A>G p.E123G Missense 4/78 - 2
8-110394752-A-G c.369A>G p.E123= Synonymous 4/78 - 1
8-110394754-A-T c.371A>T p.N124I Missense 4/78 - 1
8-110394758-C-G c.375C>G p.N125K Missense 4/78 - 1
8-110394759-A-G c.376A>G p.T126A Missense 4/78 - 2
8-110394760-C-A c.377C>A p.T126N Missense 4/78 - 1
8-110394763-G-A c.380G>A p.C127Y Missense 4/78 - 4
8-110394764-C-A c.381C>A p.C127* Nonsense 4/78 - 1
8-110394764-C-T c.381C>T p.C127= Synonymous 4/78 - 1
8-110394765-A-G c.382A>G p.K128E Missense 4/78 - 1
8-110394766-A-T c.383A>T p.K128I Missense 4/78 - 3
8-110394768-G-A c.385G>A p.G129S Missense 4/78 - 1
8-110394769-G-T c.386G>T p.G129V Missense 4/78 - 1
8-110394774-A-G c.391A>G p.I131V Missense 4/78 - 3
8-110394784-G-A c.401G>A p.W134* Nonsense 4/78 - 2
8-110394784-G-T c.401G>T p.W134L Missense 4/78 - 1
8-110394785-G-A c.402G>A p.W134* Nonsense 4/78 - 1
8-110394785-G-T c.402G>T p.W134C Missense 4/78 - 1
8-110394786-G-A c.403G>A p.E135K Missense 4/78 - 3
8-110394791-T-G c.408T>G p.C136W Missense 4/78 - 1
8-110394792-A-G c.409A>G p.T137A Missense 4/78 - 1
8-110394792-A-T c.409A>T p.T137S Missense 4/78 - 1
8-110394793-C-T c.410C>T p.T137I Missense 4/78 - 1
8-110394797-C-G c.414C>G p.F138L Missense 4/78 - 3
8-110394797-C-T c.414C>T p.F138= Synonymous 4/78 - 2
8-110394798-A-G c.415A>G p.N139D Missense 4/78 - 1
8-110394800-C-T c.417C>T p.N139= Synonymous 4/78 - 4
8-110395027-T-C c.417+227T>C - IntronicSNV - 4/77 2
8-110395115-G-A c.417+315G>A - IntronicSNV - 4/77 1
8-110396078-T-C c.418-221T>C - IntronicSNV - 4/77 1
8-110396078-T-G c.418-221T>G - IntronicSNV - 4/77 1
8-110396299-G-A c.418G>A p.A140T Missense 5/78 - 3
8-110396303-A-C c.422A>C p.K141T Missense 5/78 - 4
8-110396305-AG-CT c.424_425inv p.S142L Missense 5/78 - 1
8-110396306-G-A c.425G>A p.S142N Missense 5/78 - 1
8-110396309-T-A c.428T>A p.F143Y Missense 5/78 - 1
8-110396311-AGA-TGG c.430_432delinsTGG p.R144W Missense 5/78 - 1
8-110396312-G-A c.431G>A p.R144K Missense 5/78 - 1
8-110396315-C-G c.434C>G p.T145S Missense 5/78 - 1
8-110396315-C-T c.434C>T p.T145I Missense 5/78 - 2
8-110396316-C-T c.435C>T p.T145= Synonymous 5/78 - 2
8-110396317-C-G c.436C>G p.P146A Missense 5/78 - 1
8-110396319-A-C c.438A>C p.P146= Synonymous 5/78 - 1
8-110396319-A-G c.438A>G p.P146= Synonymous 5/78 - 1
8-110396319-A-T c.438A>T p.P146= Synonymous 5/78 - 4
8-110396318-C-CA c.439dup p.T147Nfs*25 Frameshift 5/78 - 1
8-110396321-C-A c.440C>A p.T147K Missense 5/78 - 1
8-110396321-C-T c.440C>T p.T147I Missense 5/78 - 1
8-110396323-A-G c.442A>G p.I148V Missense 5/78 - 1
8-110396326-AGA-TGT c.445_447delinsTGT p.R149C Missense 5/78 - 1
8-110396330-AG-A c.449del p.S150Tfs*12 Frameshift 5/78 - 1
8-110396330-G-C c.449G>C p.S150T Missense 5/78 - 1
8-110396334-C-G c.453C>G p.I151M Missense 5/78 - 2
8-110396334-C-T c.453C>T p.I151= Synonymous 5/78 - 1
8-110396339-C-T c.458C>T p.P153L Missense 5/78 - 1
8-110396339-CT-AA c.458_459delinsAA p.P153Q Missense 5/78 - 1
8-110396342-T-G c.461T>G p.L154* Nonsense 5/78 - 1
8-110396344-TC-CT c.463_464delinsCT p.S155L Missense 5/78 - 1
8-110396348-G-A c.467G>A p.G156E Missense 5/78 - 4
8-110396348-G-T c.467G>T p.G156V Missense 5/78 - 1
8-110396351-C-A c.470C>A p.T157N Missense 5/78 - 1
8-110396352-T-C c.471T>C p.T157= Synonymous 5/78 - 1
8-110396353-C-T c.472C>T p.P158S Missense 5/78 - 1
8-110396355-A-C c.474A>C p.P158= Synonymous 5/78 - 1
8-110396355-A-G c.474A>G p.P158= Synonymous 5/78 - 1
8-110396355-A-T c.474A>T p.P158= Synonymous 5/78 - 1
8-110396356-G-T c.475G>T p.G159C Missense 5/78 - 2
8-110396357-G-A c.475+1G>A - IntronicSNV - 5/77 1
8-110396415-T-C c.475+59T>C - IntronicSNV - 5/77 1
8-110396411-AT-A c.475+61del - IntronicDeletion - 5/77 1
8-110396597-C-G c.475+241C>G - IntronicSNV - 5/77 2
8-110397738-T-A c.476-28T>A - IntronicSNV - 5/77 7
8-110397738-T-C c.476-28T>C - IntronicSNV - 5/77 7
8-110397776-A-C c.486A>C p.I162= Synonymous 6/78 - 2
8-110397776-A-T c.486A>T p.I162= Synonymous 6/78 - 1
8-110397778-C-T c.488C>T p.T163I Missense 6/78 - 1
8-110397779-A-G c.489A>G p.T163= Synonymous 6/78 - 1
8-110397780-A-G c.490A>G p.I164V Missense 6/78 - 10
8-110397782-C-A c.492C>A p.I164= Synonymous 6/78 - 1
8-110397783-C-T c.493C>T p.Q165* Nonsense 6/78 - 2
8-110397786-G-A c.496G>A p.G166S Missense 6/78 - 1
8-110397788-C-A c.498C>A p.G166= Synonymous 6/78 - 1
8-110397788-C-G c.498C>G p.G166= Synonymous 6/78 - 1
8-110397788-C-T c.498C>T p.G166= Synonymous 6/78 - 1
8-110397789-AG-CT c.499_500inv p.R167L Missense 6/78 - 1
8-110397790-G-A c.500G>A p.R167K Missense 6/78 - 1
8-110397790-G-C c.500G>C p.R167T Missense 6/78 - 1
8-110397790-G-T c.500G>T p.R167I Missense 6/78 - 1
8-110397794-C-A c.504C>A p.I168= Synonymous 6/78 - 1
8-110397794-C-T c.504C>T p.I168= Synonymous 6/78 - 1
8-110397797-C-T c.507C>T p.F169= Synonymous 6/78 - 1
8-110397798-A-T c.508A>T p.T170S Missense 6/78 - 6
8-110397799-C-G c.509C>G p.T170S Missense 6/78 - 2
8-110397799-C-T c.509C>T p.T170I Missense 6/78 - 1
8-110397801-G-A c.511G>A p.D171N Missense 6/78 - 1
8-110397804-G-T c.514G>T p.V172F Missense 6/78 - 1
8-110397804-GTC-ATG c.514_516delinsATG p.V172M Missense 6/78 - 1
8-110397805-T-C c.515T>C p.V172A Missense 6/78 - 2
8-110397806-C-A c.516C>A p.V172= Synonymous 6/78 - 2
8-110397806-C-G c.516C>G p.V172= Synonymous 6/78 - 2
8-110397806-C-T c.516C>T p.V172= Synonymous 6/78 - 4
8-110397808-A-G c.518A>G p.Y173C Missense 6/78 - 1
8-110397809-AT-A c.519del p.Y173* Frameshift 6/78 - 1
8-110397809-T-A c.519T>A p.Y173* Nonsense 6/78 - 1
8-110397809-T-G c.519T>G p.Y173* Nonsense 6/78 - 1
8-110397810-G-A c.520G>A p.G174R Missense 6/78 - 4
8-110397811-G-A c.521G>A p.G174E Missense 6/78 - 2
8-110397811-G-T c.521G>T p.G174V Missense 6/78 - 1
8-110397812-A-C c.522A>C p.G174= Synonymous 6/78 - 1
8-110397812-A-G c.522A>G p.G174= Synonymous 6/78 - 1
8-110397812-A-T c.522A>T p.G174= Synonymous 6/78 - 1
8-110397816-A-C c.526A>C p.N176H Missense 6/78 - 1
8-110397817-A-G c.527A>G p.N176S Missense 6/78 - 1
8-110397820-T-C c.530T>C p.I177T Missense 6/78 - 1
8-110397820-TT-AG c.530_531delinsAG p.I177K Missense 6/78 - 1
8-110397821-T-A c.531T>A p.I177= Synonymous 6/78 - 1
8-110397821-T-C c.531T>C p.I177= Synonymous 6/78 - 1
8-110397822-G-T c.532G>T p.A178S Missense 6/78 - 1
8-110397823-C-A c.533C>A p.A178E Missense 6/78 - 1
8-110397823-C-T c.533C>T p.A178V Missense 6/78 - 2
8-110397826-T-G c.536T>G p.L179R Missense 6/78 - 2
8-110397825-C-T c.535C>T p.L179= Synonymous 6/78 - 1
8-110397827-A-AT c.537_538insT p.S180* Nonsense 6/78 - 1
8-110397827-A-C c.537A>C p.L179= Synonymous 6/78 - 1
8-110397827-A-G c.537A>G p.L179= Synonymous 6/78 - 1
8-110397827-A-T c.537A>T p.L179= Synonymous 6/78 - 1
8-110397828-AG-CT c.538_539inv p.S180L Missense 6/78 - 1
8-110397832-C-A c.542C>A p.S181* Nonsense 6/78 - 1
8-110397832-C-G c.542C>G p.S181* Nonsense 6/78 - 2
8-110397833-A-C c.543A>C p.S181= Synonymous 6/78 - 2
8-110397833-A-G c.543A>G p.S181= Synonymous 6/78 - 1
8-110397833-A-T c.543A>T p.S181= Synonymous 6/78 - 1
8-110397835-A-C c.545A>C p.N182T Missense 6/78 - 1
8-110397835-A-T c.545A>T p.N182I Missense 6/78 - 1
8-110397836-T-G c.546T>G p.N182K Missense 6/78 - 1
8-110397838-G-A c.548G>A p.G183E Missense 6/78 - 1
8-110397839-G-A c.549G>A p.G183= Synonymous 6/78 - 9
8-110397839-G-C c.549G>C p.G183= Synonymous 6/78 - 4
8-110397839-G-T c.549G>T p.G183= Synonymous 6/78 - 4
8-110397843-A-T c.553A>T p.N185Y Missense 6/78 - 2
8-110397845-T-A c.555T>A p.N185K Missense 6/78 - 2
8-110397846-G-A c.556G>A p.V186I Missense 6/78 - 1
8-110397847-T-A c.557T>A p.V186D Missense 6/78 - 3
8-110397846-G-GT c.558dup p.R187* Nonsense 6/78 - 1
8-110397850-G-A c.560G>A p.R187K Missense 6/78 - 1
8-110397851-G-A c.561G>A p.R187= Synonymous 6/78 - 3
8-110397854-T-A c.564T>A p.I188= Synonymous 6/78 - 1
8-110397855-T-C c.565T>C p.L189= Synonymous 6/78 - 1
8-110397857-G-A c.567G>A p.L189= Synonymous 6/78 - 2
8-110397856-T-C c.566T>C p.L189S Missense 6/78 - 1
8-110397857-G-T c.567G>T p.L189F Missense 6/78 - 1
8-110397858-AG-CA c.568_569delinsCA p.R190Q Missense 6/78 - 1
8-110397859-G-A c.569G>A p.R190K Missense 6/78 - 2
8-110397908-T-G c.569+49T>G - IntronicSNV - 6/77 1
8-110397975-T-A c.569+116T>A - IntronicSNV - 6/77 1
8-110397974-GT-G c.569+125del - IntronicDeletion - 6/77 1
8-110398029-G-A c.569+170G>A - IntronicSNV - 6/77 1
8-110400698-A-AT c.570-22dup - IntronicInsertion - 6/77 3
8-110400718-T-C c.570-8T>C - IntronicSNV - 6/77 1
8-110400727-G-A c.571G>A p.V191I Missense 7/78 - 3
8-110400730-T-C c.574T>C p.Y192H Missense 7/78 - 1
8-110400732-C-A c.576C>A p.Y192* Nonsense 7/78 - 1
8-110400732-C-G c.576C>G p.Y192* Nonsense 7/78 - 1
8-110400732-C-T c.576C>T p.Y192= Synonymous 7/78 - 1
8-110400733-A-G c.577A>G p.I193V Missense 7/78 - 3
8-110400737-G-A c.581G>A p.G194E Missense 7/78 - 2
8-110400737-G-T c.581G>T p.G194V Missense 7/78 - 1
8-110400740-G-T c.584G>T p.G195V Missense 7/78 - 2
8-110400742-A-T c.586A>T p.M196L Missense 7/78 - 1
8-110400745-C-A c.589C>A p.P197T Missense 7/78 - 1
8-110400745-C-T c.589C>T p.P197S Missense 7/78 - 2
8-110400749-G-A c.593G>A p.C198Y Missense 7/78 - 1
8-110400749-G-C c.593G>C p.C198S Missense 7/78 - 1
8-110400749-G-T c.593G>T p.C198F Missense 7/78 - 1
8-110400750-GT-G c.594del p.C198Wfs*14 Frameshift 7/78 - 1
8-110400751-G-A c.595G>A p.E199K Missense 7/78 - 2
8-110400752-GA-G c.596del p.E199Gfs*13 Frameshift 7/78 - 1
8-110400754-C-A c.598C>A p.L200I Missense 7/78 - 1
8-110400755-T-C c.599T>C p.L200P Missense 7/78 - 1
8-110400761-T-A c.605T>A p.I202K Missense 7/78 - 1
8-110400762-A-G c.606A>G p.I202M Missense 7/78 - 2
8-110400763-C-T c.607C>T p.P203S Missense 7/78 - 1
8-110400764-C-T c.608C>T p.P203L Missense 7/78 - 1
8-110400767-A-G c.611A>G p.Q204R Missense 7/78 - 1
8-110400770-C-G c.614C>G p.S205C Missense 7/78 - 2
8-110400771-T-C c.615T>C p.S205= Synonymous 7/78 - 1
8-110400772-G-A c.616G>A p.D206N Missense 7/78 - 1
8-110400776-A-T c.620A>T p.N207I Missense 7/78 - 3
8-110401119-G-A c.624-189G>A - IntronicSNV - 7/77 1
8-110401306-AGATATGGTCTAAAACTGGATCATCCAAATG-A c.625_654del p.Y209_G218del SpliceAcceptorDeletion 8/78 - 1
8-110401312-G-A c.628G>A p.G210S Missense 8/78 - 4
8-110401313-GT-AG c.629_630delinsAG p.G210E Missense 8/78 - 1
8-110401316-T-A c.632T>A p.L211Q Missense 8/78 - 5
8-110401317-A-T c.633A>T p.L211= Synonymous 8/78 - 1
8-110401319-A-C c.635A>C p.K212T Missense 8/78 - 1
8-110401320-A-G c.636A>G p.K212= Synonymous 8/78 - 1
8-110401324-G-T c.640G>T p.D214Y Missense 8/78 - 1
8-110401327-C-T c.643C>T p.H215Y Missense 8/78 - 1
8-110401328-A-T c.644A>T p.H215L Missense 8/78 - 4
8-110401330-C-T c.646C>T p.P216S Missense 8/78 - 2
8-110401331-C-T c.647C>T p.P216L Missense 8/78 - 4
8-110401332-A-C c.648A>C p.P216= Synonymous 8/78 - 1
8-110401332-A-G c.648A>G p.P216= Synonymous 8/78 - 1
8-110401332-A-T c.648A>T p.P216= Synonymous 8/78 - 1
8-110401334-A-G c.650A>G p.N217S Missense 8/78 - 1
8-110401336-G-T c.652G>T p.G218* Nonsense 8/78 - 2
8-110401337-G-A c.653G>A p.G218E Missense 8/78 - 1
8-110401339-G-A c.655G>A p.D219N Missense 8/78 - 1
8-110401342-A-G c.658A>G p.M220V Missense 8/78 - 1
8-110401345-G-A c.661G>A p.G221S Missense 8/78 - 2
8-110401345-G-T c.661G>T p.G221C Missense 8/78 - 1
8-110401346-G-T c.662G>T p.G221V Missense 8/78 - 1
8-110401346-GT-G c.664del p.S222Lfs*20 Frameshift 8/78 - 1
8-110401348-T-C c.664T>C p.S222P Missense 8/78 - 1
8-110401349-C-A c.665C>A p.S222Y Missense 8/78 - 4
8-110401349-TC-T c.665del p.S222Lfs*20 Frameshift 8/78 - 1
8-110401351-A-G c.667A>G p.M223V Missense 8/78 - 2
8-110401353-G-A c.669G>A p.M223I Missense 8/78 - 1
8-110401353-G-C c.669G>C p.M223I Missense 8/78 - 1
8-110401353-G-T c.669G>T p.M223I Missense 8/78 - 1
8-110401354-GT-G c.673del p.C225Vfs*17 Frameshift 8/78 - 1
8-110401364-C-T c.680C>T p.T227M Missense 8/78 - 3
8-110401367-C-T c.683C>T p.T228I Missense 8/78 - 1
8-110401371-A-C c.687A>C p.G229= Synonymous 8/78 - 1
8-110401371-A-G c.687A>G p.G229= Synonymous 8/78 - 1
8-110401371-A-T c.687A>T p.G229= Synonymous 8/78 - 1
8-110401373-C-T c.689C>T p.T230I Missense 8/78 - 1
8-110401376-T-G c.692T>G p.F231C Missense 8/78 - 2
8-110401377-T-G c.693T>G p.F231L Missense 8/78 - 1
8-110401379-T-G c.695T>G p.I232S Missense 8/78 - 1
8-110401381-G-A c.697G>A p.G233S Missense 8/78 - 1
8-110401659-C-T c.697+278C>T - IntronicSNV - 8/77 1
8-110402411-A-G c.698-270A>G - IntronicSNV - 8/77 1
8-110402411-A-T c.698-270A>T - IntronicSNV - 8/77 1
8-110402456-T-C c.698-225T>C - IntronicSNV - 8/77 2
8-110402456-T-G c.698-225T>G - IntronicSNV - 8/77 2
8-110402491-C-T c.698-190C>T - IntronicSNV - 8/77 1
8-110402687-A-G c.704A>G p.H235R Missense 9/78 - 1
8-110402688-C-T c.705C>T p.H235= Synonymous 9/78 - 1
8-110402698-T-C c.715T>C p.F239L Missense 9/78 - 1
8-110402700-C-A c.717C>A p.F239L Missense 9/78 - 2
8-110402700-C-G c.717C>G p.F239L Missense 9/78 - 1
8-110402700-C-T c.717C>T p.F239= Synonymous 9/78 - 1
8-110402701-A-G c.718A>G p.I240V Missense 9/78 - 3
8-110402702-T-A c.719T>A p.I240N Missense 9/78 - 1
8-110402711-A-G c.728A>G p.N243S Missense 9/78 - 3
8-110402714-A-G c.731A>G p.D244G Missense 9/78 - 1
8-110402717-A-G c.734A>G p.Y245C Missense 9/78 - 1
8-110402719-G-A c.736G>A p.G246R Missense 9/78 - 1
8-110402719-G-C c.736G>C p.G246R Missense 9/78 - 1
8-110402719-G-T c.736G>T p.G246* Nonsense 9/78 - 1
8-110402720-G-A c.737G>A p.G246E Missense 9/78 - 1
8-110402720-G-C c.737G>C p.G246A Missense 9/78 - 1
8-110402722-A-T c.739A>T p.R247W Missense 9/78 - 2
8-110402723-G-T c.740G>T p.R247M Missense 9/78 - 1
8-110402788-T-A c.740+65T>A - IntronicSNV - 9/77 1
8-110406641-CAGG-C c.741_743del p.R247del SpliceAcceptorDeletion 10/78 - 1
8-110406646-G-A c.743G>A p.S248N Missense 10/78 - 1
8-110406645-A-C c.742A>C p.S248R Missense 10/78 - 1
8-110406647-T-A c.744T>A p.S248R Missense 10/78 - 1
8-110406647-T-G c.744T>G p.S248R Missense 10/78 - 1
8-110406650-T-C c.747T>C p.F249= Synonymous 10/78 - 1
8-110406652-C-T c.749C>T p.P250L Missense 10/78 - 3
8-110406654-C-T c.751C>T p.Q251* Nonsense 10/78 - 1
8-110406655-A-G c.752A>G p.Q251R Missense 10/78 - 1
8-110406663-G-A c.760G>A p.A254T Missense 10/78 - 1
8-110406664-C-T c.761C>T p.A254V Missense 10/78 - 1
8-110406665-A-C c.762A>C p.A254= Synonymous 10/78 - 1
8-110406665-A-G c.762A>G p.A254= Synonymous 10/78 - 1
8-110406665-A-T c.762A>T p.A254= Synonymous 10/78 - 1
8-110406671-T-A c.768T>A p.F256L Missense 10/78 - 1
8-110406670-TTGTTTCTTC-T c.769_777del p.V257_S259del InFrameDeletion 10/78 - 1
8-110406674-T-C c.771T>C p.V257= Synonymous 10/78 - 2
8-110406676-C-A c.773C>A p.S258Y Missense 10/78 - 2
8-110406676-C-T c.773C>T p.S258F Missense 10/78 - 2
8-110406677-T-A c.774T>A p.S258= Synonymous 10/78 - 1
8-110406679-C-T c.776C>T p.S259F Missense 10/78 - 1
8-110406680-T-C c.777T>C p.S259= Synonymous 10/78 - 1
8-110406687-A-G c.784A>G p.K262E Missense 10/78 - 1
8-110406689-A-G c.786A>G p.K262= Synonymous 10/78 - 1
8-110406695-A-C c.792A>C p.A264= Synonymous 10/78 - 1
8-110406695-A-G c.792A>G p.A264= Synonymous 10/78 - 3
8-110406695-A-T c.792A>T p.A264= Synonymous 10/78 - 1
8-110406696-A-G c.793A>G p.M265V Missense 10/78 - 1
8-110406697-T-C c.794T>C p.M265T Missense 10/78 - 9
8-110406697-T-G c.794T>G p.M265R Missense 10/78 - 1
8-110406698-G-A c.795G>A p.M265I Missense 10/78 - 1
8-110406698-G-C c.795G>C p.M265I Missense 10/78 - 1
8-110406698-G-T c.795G>T p.M265I Missense 10/78 - 1
8-110406699-T-C c.796T>C p.F266L Missense 10/78 - 1
8-110406702-C-T c.799C>T p.Q267* Nonsense 10/78 - 4
8-110406705-A-G c.802A>G p.T268A Missense 10/78 - 1
8-110406706-C-G c.803C>G p.T268R Missense 10/78 - 1
8-110406714-G-A c.811G>A p.E271K Missense 10/78 - 1
8-110406715-G-A c.811+1G>A - IntronicSNV - 10/77 1
8-110406743-G-A c.811+29G>A - IntronicSNV - 10/77 1
8-110406845-C-T c.811+131C>T - IntronicSNV - 10/77 1
8-110407097-A-G c.811+383A>G - IntronicSNV - 10/77 1
8-110408256-A-T c.812A>T p.E271V Missense 11/78 - 1
8-110408257-G-A c.813G>A p.E271= Synonymous 11/78 - 3
8-110408258-G-A c.814G>A p.V272I Missense 11/78 - 1
8-110408258-G-C c.814G>C p.V272L Missense 11/78 - 2
8-110408260-C-A c.816C>A p.V272= Synonymous 11/78 - 1
8-110408260-C-G c.816C>G p.V272= Synonymous 11/78 - 1
8-110408260-C-T c.816C>T p.V272= Synonymous 11/78 - 1
8-110408263-C-T c.819C>T p.T273= Synonymous 11/78 - 1
8-110408265-T-A c.821T>A p.M274K Missense 11/78 - 1
8-110408266-G-A c.822G>A p.M274I Missense 11/78 - 5
8-110408266-G-C c.822G>C p.M274I Missense 11/78 - 2
8-110408266-G-T c.822G>T p.M274I Missense 11/78 - 3
8-110408270-T-A c.826T>A p.F276I Missense 11/78 - 1
8-110408270-T-C c.826T>C p.F276L Missense 11/78 - 1
8-110408270-T-G c.826T>G p.F276V Missense 11/78 - 1
8-110408272-C-A c.828C>A p.F276L Missense 11/78 - 1
8-110408272-C-G c.828C>G p.F276L Missense 11/78 - 1
8-110408271-T-C c.827T>C p.F276S Missense 11/78 - 2
8-110408272-C-T c.828C>T p.F276= Synonymous 11/78 - 3
8-110408273-C-A c.829C>A p.P277T Missense 11/78 - 1
8-110408273-C-T c.829C>T p.P277S Missense 11/78 - 1
8-110408275-T-A c.831T>A p.P277= Synonymous 11/78 - 1
8-110408275-T-C c.831T>C p.P277= Synonymous 11/78 - 1
8-110408275-T-G c.831T>G p.P277= Synonymous 11/78 - 1
8-110408276-T-C c.832T>C p.S278P Missense 11/78 - 1
8-110408277-CA-TT c.833_834delinsTT p.S278F Missense 11/78 - 2
8-110408277-C-T c.833C>T p.S278L Missense 11/78 - 3
8-110408282-G-A c.838G>A p.G280R Missense 11/78 - 5
8-110408282-G-C c.838G>C p.G280R Missense 11/78 - 1
8-110408283-G-A c.839G>A p.G280E Missense 11/78 - 2
8-110408286-G-A c.842G>A p.S281N Missense 11/78 - 2
8-110408285-A-C c.841A>C p.S281R Missense 11/78 - 1
8-110408287-C-A c.843C>A p.S281R Missense 11/78 - 1
8-110408287-C-G c.843C>G p.S281R Missense 11/78 - 2
8-110408287-C-T c.843C>T p.S281= Synonymous 11/78 - 1
8-110408291-C-A c.847C>A p.R283= Synonymous 11/78 - 1
8-110408291-C-T c.847C>T p.R283* Nonsense 11/78 - 9
8-110408293-A-C c.849A>C p.R283= Synonymous 11/78 - 1
8-110408293-A-G c.849A>G p.R283= Synonymous 11/78 - 1
8-110408293-A-T c.849A>T p.R283= Synonymous 11/78 - 1
8-110408292-G-A c.848G>A p.R283Q Missense 11/78 - 7
8-110408292-G-C c.848G>C p.R283P Missense 11/78 - 1
8-110408298-G-A c.854G>A p.G285D Missense 11/78 - 2
8-110408299-C-A c.855C>A p.G285= Synonymous 11/78 - 1
8-110408301-C-T c.857C>T p.T286I Missense 11/78 - 3
8-110408302-C-A c.858C>A p.T286= Synonymous 11/78 - 1
8-110408302-C-G c.858C>G p.T286= Synonymous 11/78 - 1
8-110408302-C-T c.858C>T p.T286= Synonymous 11/78 - 1
8-110408303-A-C c.859A>C p.T287P Missense 11/78 - 1
8-110408304-CG-TC c.860_861delinsTC p.T287I Missense 11/78 - 1
8-110408304-C-T c.860C>T p.T287M Missense 11/78 - 1
8-110408305-G-A c.861G>A p.T287= Synonymous 11/78 - 2
8-110408310-CA-TG c.866_867inv p.T289M Missense 11/78 - 1
8-110408310-C-T c.866C>T p.T289I Missense 11/78 - 1
8-110408312-A-G c.868A>G p.I290V Missense 11/78 - 1
8-110408314-A-C c.870A>C p.I290= Synonymous 11/78 - 1
8-110408314-A-T c.870A>T p.I290= Synonymous 11/78 - 1
8-110408315-A-G c.871A>G p.S291G Missense 11/78 - 1
8-110408316-G-A c.872G>A p.S291N Missense 11/78 - 1
8-110408316-G-T c.872G>T p.S291I Missense 11/78 - 1
8-110408318-G-T c.874G>T p.G292W Missense 11/78 - 1
8-110408321-C-T c.877C>T p.R293C Missense 11/78 - 3
8-110408322-G-A c.878G>A p.R293H Missense 11/78 - 2
8-110408324-T-G c.880T>G p.F294V Missense 11/78 - 1
8-110408325-T-C c.881T>C p.F294S Missense 11/78 - 3
8-110408331-A-T c.887A>T p.D296V Missense 11/78 - 1
8-110408332-T-C c.888T>C p.D296= Synonymous 11/78 - 2
8-110408333-C-T c.889C>T p.Q297* Nonsense 11/78 - 1
8-110408334-A-T c.890A>T p.Q297L Missense 11/78 - 1
8-110408335-G-C c.891G>C p.Q297H Missense 11/78 - 1
8-110408337-AC-A c.893del p.T298Kfs*8 Frameshift 11/78 - 1
8-110408339-G-A c.895G>A p.D299N Missense 11/78 - 2
8-110408339-G-T c.895G>T p.D299Y Missense 11/78 - 1
8-110408344-C-T c.900C>T p.F300= Synonymous 11/78 - 3
8-110408345-C-T c.901C>T p.P301S Missense 11/78 - 1
8-110408346-C-T c.902C>T p.P301L Missense 11/78 - 3
8-110408347-C-T c.903C>T p.P301= Synonymous 11/78 - 2
8-110408348-G-A c.904G>A p.V302I Missense 11/78 - 4
8-110408350-C-T c.906C>T p.V302= Synonymous 11/78 - 1
8-110408352-G-A c.908G>A p.R303K Missense 11/78 - 1
8-110408353-A-G c.909A>G p.R303= Synonymous 11/78 - 1
8-110408354-G-A c.910G>A p.V304I Missense 11/78 - 2
8-110408355-T-C c.911T>C p.V304A Missense 11/78 - 1
8-110408357-C-T c.913C>T p.L305= Synonymous 11/78 - 2
8-110408364-G-A c.920G>A p.G307E Missense 11/78 - 1
8-110408364-G-C c.920G>C p.G307A Missense 11/78 - 1
8-110408367-G-T c.922+1G>T - IntronicSNV - 11/77 1
8-110408527-C-T c.922+161C>T - IntronicSNV - 11/77 2
8-110408836-G-A c.922+470G>A - IntronicSNV - 11/77 1
8-110410688-G-C c.923G>C p.G308A Missense 12/78 - 1
8-110410689-T-A c.924T>A p.G308= Synonymous 12/78 - 1
8-110410689-T-C c.924T>C p.G308= Synonymous 12/78 - 1
8-110410689-T-G c.924T>G p.G308= Synonymous 12/78 - 1
8-110410690-G-A c.925G>A p.E309K Missense 12/78 - 2
8-110410690-G-T c.925G>T p.E309* Nonsense 12/78 - 2
8-110410692-A-G c.927A>G p.E309= Synonymous 12/78 - 1
8-110410699-G-C c.934G>C p.D312H Missense 12/78 - 1
8-110410701-T-C c.936T>C p.D312= Synonymous 12/78 - 1
8-110410705-T-TAA c.940_941insAA p.L314* Nonsense 12/78 - 1
8-110410702-AT-A c.941del p.L314* Frameshift 12/78 - 1
8-110410707-G-C c.942G>C p.L314F Missense 12/78 - 1
8-110410707-G-T c.942G>T p.L314F Missense 12/78 - 1
8-110410712-T-C c.947T>C p.V316A Missense 12/78 - 1
8-110410714-A-T c.949A>T p.T317S Missense 12/78 - 1
8-110410717-G-A c.952G>A p.E318K Missense 12/78 - 3
8-110410717-G-C c.952G>C p.E318Q Missense 12/78 - 1
8-110410722-T-C c.957T>C p.N319= Synonymous 12/78 - 1
8-110410724-G-C c.959G>C p.S320T Missense 12/78 - 2
8-110410735-A-G c.970A>G p.K324E Missense 12/78 - 1
8-110410738-A-G c.973A>G p.T325A Missense 12/78 - 1
8-110410741-C-A c.976C>A p.P326T Missense 12/78 - 1
8-110410741-C-T c.976C>T p.P326S Missense 12/78 - 1
8-110410742-C-T c.977C>T p.P326L Missense 12/78 - 1
8-110410743-C-A c.978C>A p.P326= Synonymous 12/78 - 1
8-110410743-C-G c.978C>G p.P326= Synonymous 12/78 - 1
8-110410743-C-T c.978C>T p.P326= Synonymous 12/78 - 1
8-110410744-C-G c.979C>G p.P327A Missense 12/78 - 1
8-110410740-A-AC c.981dup p.K328Qfs*18 Frameshift 12/78 - 1
8-110410748-A-G c.983A>G p.K328R Missense 12/78 - 1
8-110410752-T-A c.987T>A p.P329= Synonymous 12/78 - 1
8-110410752-T-C c.987T>C p.P329= Synonymous 12/78 - 1
8-110410752-T-G c.987T>G p.P329= Synonymous 12/78 - 1
8-110410753-C-A c.988C>A p.H330N Missense 12/78 - 2
8-110410753-C-T c.988C>T p.H330Y Missense 12/78 - 2
8-110410755-T-C c.990T>C p.H330= Synonymous 12/78 - 2
8-110410759-C-G c.994C>G p.L332V Missense 12/78 - 1
8-110410759-TC-T c.994del p.L332Sfs*11 Frameshift 12/78 - 1
8-110410761-C-A c.996C>A p.L332= Synonymous 12/78 - 2
8-110410761-C-G c.996C>G p.L332= Synonymous 12/78 - 2
8-110410761-C-T c.996C>T p.L332= Synonymous 12/78 - 2
8-110410762-A-C c.997A>C p.K333Q Missense 12/78 - 1
8-110410765-A-T c.1000A>T p.T334S Missense 12/78 - 1
8-110410766-C-G c.1001C>G p.T334S Missense 12/78 - 1
8-110410805-T-C c.1012+28T>C - IntronicSNV - 12/77 1
8-110410875-A-G c.1012+98A>G - IntronicSNV - 12/77 1
8-110412305-G-A c.1013G>A p.G338E Missense 13/78 - 4
8-110412307-G-A c.1015G>A p.G339R Missense 13/78 - 1
8-110412307-G-C c.1015G>C p.G339R Missense 13/78 - 1
8-110412309-G-A c.1017G>A p.G339= Synonymous 13/78 - 1
8-110412309-G-C c.1017G>C p.G339= Synonymous 13/78 - 1
8-110412309-G-T c.1017G>T p.G339= Synonymous 13/78 - 1
8-110412310-AGA-CAT c.1018_1020delinsCAT p.R340H Missense 13/78 - 1
8-110412310-AGA-TGT c.1018_1020delinsTGT p.R340C Missense 13/78 - 1
8-110412311-G-A c.1019G>A p.R340K Missense 13/78 - 1
8-110412310-A-C c.1018A>C p.R340= Synonymous 13/78 - 1
8-110412312-A-G c.1020A>G p.R340= Synonymous 13/78 - 1
8-110412313-G-A c.1021G>A p.G341S Missense 13/78 - 3
8-110412314-GC-AG c.1022_1023delinsAG p.G341E Missense 13/78 - 1
8-110412317-T-C c.1025T>C p.L342P Missense 13/78 - 1
8-110412320-A-G c.1028A>G p.K343R Missense 13/78 - 1
8-110412321-G-C c.1029G>C p.K343N Missense 13/78 - 1
8-110412322-C-A c.1030C>A p.L344I Missense 13/78 - 1
8-110412324-T-A c.1032T>A p.L344= Synonymous 13/78 - 1
8-110412324-T-C c.1032T>C p.L344= Synonymous 13/78 - 1
8-110412324-T-G c.1032T>G p.L344= Synonymous 13/78 - 1
8-110412325-G-A c.1033G>A p.E345K Missense 13/78 - 2
8-110412327-G-C c.1035G>C p.E345D Missense 13/78 - 1
8-110412327-G-T c.1035G>T p.E345D Missense 13/78 - 1
8-110412329-T-C c.1037T>C p.V346A Missense 13/78 - 1
8-110412331-T-G c.1039T>G p.W347G Missense 13/78 - 1
8-110412332-G-A c.1040G>A p.W347* Nonsense 13/78 - 1
8-110412333-G-A c.1041G>A p.W347* Nonsense 13/78 - 1
8-110412334-A-G c.1042A>G p.N348D Missense 13/78 - 1
8-110412335-A-G c.1043A>G p.N348S Missense 13/78 - 1
8-110412338-A-G c.1046A>G p.N349S Missense 13/78 - 1
8-110412339-T-A c.1047T>A p.N349K Missense 13/78 - 1
8-110412339-T-G c.1047T>G p.N349K Missense 13/78 - 1
8-110412341-G-A c.1049G>A p.S350N Missense 13/78 - 1
8-110412342-C-T c.1050C>T p.S350= Synonymous 13/78 - 1
8-110412343-C-T c.1051C>T p.R351C Missense 13/78 - 2
8-110412344-G-A c.1052G>A p.R351H Missense 13/78 - 3
8-110412348-A-C c.1056A>C p.P352= Synonymous 13/78 - 1
8-110412348-A-G c.1056A>G p.P352= Synonymous 13/78 - 1
8-110412348-A-T c.1056A>T p.P352= Synonymous 13/78 - 1
8-110412352-CGT-AAG c.1060_1062delinsAAG p.R354K Missense 13/78 - 1
8-110412353-G-A c.1061G>A p.R354H Missense 13/78 - 2
8-110412354-T-A c.1062T>A p.R354= Synonymous 13/78 - 1
8-110412354-T-C c.1062T>C p.R354= Synonymous 13/78 - 1
8-110412354-T-G c.1062T>G p.R354= Synonymous 13/78 - 1
8-110412355-T-C c.1063T>C p.L355= Synonymous 13/78 - 1
8-110412357-G-A c.1065G>A p.L355= Synonymous 13/78 - 2
8-110412358-G-A c.1066G>A p.E356K Missense 13/78 - 1
8-110412358-G-T c.1066G>T p.E356* Nonsense 13/78 - 1
8-110412359-A-G c.1067A>G p.E356G Missense 13/78 - 1
8-110412360-A-T c.1068A>T p.E356D Missense 13/78 - 1
8-110412361-G-T c.1069G>T p.E357* Nonsense 13/78 - 1
8-110412366-A-G c.1074A>G p.I358M Missense 13/78 - 1
8-110412370-G-A c.1078G>A p.E360K Missense 13/78 - 5
8-110412374-A-G c.1082A>G p.Y361C Missense 13/78 - 1
8-110412375-C-A c.1083C>A p.Y361* Nonsense 13/78 - 1
8-110412377-A-G c.1085A>G p.N362S Missense 13/78 - 2
8-110412378-T-A c.1086T>A p.N362K Missense 13/78 - 3
8-110412378-T-C c.1086T>C p.N362= Synonymous 13/78 - 1
8-110412378-T-G c.1086T>G p.N362K Missense 13/78 - 2
8-110412379-G-A c.1087G>A p.E363K Missense 13/78 - 1
8-110412384-A-C c.1092A>C p.K364N Missense 13/78 - 1
8-110412384-A-T c.1092A>T p.K364N Missense 13/78 - 1
8-110412386-C-T c.1094C>T p.T365M Missense 13/78 - 4
8-110412387-G-A c.1095G>A p.T365= Synonymous 13/78 - 2
8-110412387-G-C c.1095G>C p.T365= Synonymous 13/78 - 2
8-110412387-G-T c.1095G>T p.T365= Synonymous 13/78 - 2
8-110412389-C-A c.1097C>A p.P366H Missense 13/78 - 1
8-110412391-GGG-TGT c.1099_1101delinsTGT p.G367C Missense 13/78 - 1
8-110412392-G-A c.1100G>A p.G367E Missense 13/78 - 1
8-110412392-G-T c.1100G>T p.G367V Missense 13/78 - 2
8-110412393-G-A c.1101G>A p.G367= Synonymous 13/78 - 1
8-110412394-T-C c.1102T>C p.Y368H Missense 13/78 - 1
8-110412399-G-A c.1107G>A p.M369I Missense 13/78 - 1
8-110412399-G-T c.1107G>T p.M369I Missense 13/78 - 2
8-110412400-G-A c.1108G>A p.G370S Missense 13/78 - 1
8-110412401-G-T c.1109G>T p.G370V Missense 13/78 - 1
8-110412402-T-A c.1110T>A p.G370= Synonymous 13/78 - 1
8-110412402-T-C c.1110T>C p.G370= Synonymous 13/78 - 1
8-110412402-T-G c.1110T>G p.G370= Synonymous 13/78 - 1
8-110412403-G-T c.1111G>T p.A371S Missense 13/78 - 2
8-110412406-A-T c.1114A>T p.S372C Missense 13/78 - 1
8-110412407-G-A c.1115G>A p.S372N Missense 13/78 - 1
8-110412409-T-A c.1117T>A p.W373R Missense 13/78 - 1
8-110412410-G-A c.1118G>A p.W373* Nonsense 13/78 - 1
8-110412411-G-C c.1119G>C p.W373C Missense 13/78 - 4
8-110412411-G-T c.1119G>T p.W373C Missense 13/78 - 1
8-110412412-G-A c.1120G>A p.V374I Missense 13/78 - 1
8-110412412-G-T c.1120G>T p.V374L Missense 13/78 - 1
8-110412415-G-T c.1123G>T p.D375Y Missense 13/78 - 1
8-110412418-T-C c.1126T>C p.S376P Missense 13/78 - 1
8-110412418-TC-AT c.1126_1127delinsAT p.S376I Missense 13/78 - 1
8-110412419-C-G c.1127C>G p.S376* Nonsense 13/78 - 1
8-110412421-G-A c.1129G>A p.A377T Missense 13/78 - 1
8-110412422-C-A c.1130C>A p.A377D Missense 13/78 - 4
8-110412423-T-A c.1131T>A p.A377= Synonymous 13/78 - 1
8-110412423-T-C c.1131T>C p.A377= Synonymous 13/78 - 1
8-110412423-T-G c.1131T>G p.A377= Synonymous 13/78 - 1
8-110412425-C-T c.1133C>T p.S378F Missense 13/78 - 2
8-110412434-G-T c.1142G>T p.W381L Missense 13/78 - 1
8-110412435-G-A c.1143G>A p.W381* Nonsense 13/78 - 1
8-110412441-G-T c.1149G>T p.M383I Missense 13/78 - 1
8-110412442-G-A c.1150G>A p.E384K Missense 13/78 - 1
8-110412444-A-G c.1152A>G p.E384= Synonymous 13/78 - 2
8-110412445-C-G c.1153C>G p.Q385E Missense 13/78 - 2
8-110412448-G-A c.1156G>A p.D386N Missense 13/78 - 1
8-110412455-T-G c.1163T>G p.F388C Missense 13/78 - 1
8-110412456-T-C c.1164T>C p.F388= Synonymous 13/78 - 2
8-110412460-G-T c.1168G>T p.A390S Missense 13/78 - 1
8-110412463-C-T c.1171C>T p.R391C Missense 13/78 - 5
8-110412464-G-A c.1172G>A p.R391H Missense 13/78 - 5
8-110412464-GC-AA c.1172_1173delinsAA p.R391Q Missense 13/78 - 1
8-110412468-T-C c.1176T>C p.F392= Synonymous 13/78 - 1
8-110412470-G-A c.1178G>A p.S393N Missense 13/78 - 1
8-110412469-A-C c.1177A>C p.S393R Missense 13/78 - 4
8-110412471-T-A c.1179T>A p.S393R Missense 13/78 - 7
8-110412471-T-C c.1179T>C p.S393= Synonymous 13/78 - 1
8-110412471-T-G c.1179T>G p.S393R Missense 13/78 - 4
8-110412472-GGA-TGT c.1180_1182delinsTGT p.G394C Missense 13/78 - 1
8-110412472-G-T c.1180G>T p.G394* Nonsense 13/78 - 1
8-110412473-G-A c.1181G>A p.G394E Missense 13/78 - 3
8-110412475-T-G c.1183T>G p.F395V Missense 13/78 - 2
8-110412479-T-C c.1187T>C p.L396S Missense 13/78 - 1
8-110412484-G-C c.1192G>C p.A398P Missense 13/78 - 1
8-110412485-C-T c.1193C>T p.A398V Missense 13/78 - 1
8-110412487-C-T c.1195C>T p.P399S Missense 13/78 - 1
8-110412488-C-A c.1196C>A p.P399Q Missense 13/78 - 1
8-110412490-G-T c.1198G>T p.D400Y Missense 13/78 - 1
8-110412500-T-A c.1208T>A p.V403D Missense 13/78 - 1
8-110412500-T-TTGG c.1209_1210insGGT p.V403_Y404insG InFrameInsertion 13/78 - 1
8-110412502-T-A c.1210T>A p.Y404N Missense 13/78 - 1
8-110412505-AGA-CAT c.1213_1215delinsCAT p.R405H Missense 13/78 - 1
8-110412505-AGA-TGG c.1213_1215delinsTGG p.R405W Missense 13/78 - 1
8-110412505-A-T c.1213A>T p.R405* Nonsense 13/78 - 1
8-110412509-T-A c.1217T>A p.F406Y Missense 13/78 - 1
8-110412519-G-A c.1227G>A p.K409= Synonymous 13/78 - 18
8-110412520-G-A c.1228G>A p.G410S Missense 13/78 - 4
8-110412521-G-A c.1229G>A p.G410D Missense 13/78 - 5
8-110412522-T-G c.1230T>G p.G410= Synonymous 13/78 - 1
8-110412526-G-T c.1234G>T p.D412Y Missense 13/78 - 1
8-110412528-C-G c.1236C>G p.D412E Missense 13/78 - 1
8-110412528-C-T c.1236C>T p.D412= Synonymous 13/78 - 3
8-110412530-G-A c.1238G>A p.R413H Missense 13/78 - 7
8-110412532-T-C c.1240T>C p.Y414H Missense 13/78 - 2
8-110412535-G-T c.1243G>T p.A415S Missense 13/78 - 1
8-110412536-C-A c.1244C>A p.A415D Missense 13/78 - 4
8-110412536-C-T c.1244C>T p.A415V Missense 13/78 - 1
8-110412537-T-A c.1245T>A p.A415= Synonymous 13/78 - 1
8-110412537-T-C c.1245T>C p.A415= Synonymous 13/78 - 1
8-110412537-T-G c.1245T>G p.A415= Synonymous 13/78 - 1
8-110412538-A-G c.1246A>G p.I416V Missense 13/78 - 1
8-110412539-T-G c.1247T>G p.I416S Missense 13/78 - 1
8-110412542-A-G c.1250A>G p.Y417C Missense 13/78 - 1
8-110412547-AG-CT c.1255_1256inv p.S419L Missense 13/78 - 1
8-110412547-A-C c.1255A>C p.S419R Missense 13/78 - 1
8-110412549-C-A c.1257C>A p.S419R Missense 13/78 - 1
8-110412549-C-G c.1257C>G p.S419R Missense 13/78 - 1
8-110412552-G-A c.1260G>A p.Q420= Synonymous 13/78 - 1
8-110412553-A-G c.1261A>G p.T421A Missense 13/78 - 1
8-110412557-G-C c.1265G>C p.G422A Missense 13/78 - 1
8-110412560-T-G c.1268T>G p.L423R Missense 13/78 - 2
8-110412563-C-T c.1271C>T p.P424L Missense 13/78 - 1
8-110412565-G-C c.1273G>C p.E425Q Missense 13/78 - 1
8-110412566-A-C c.1274A>C p.E425A Missense 13/78 - 1
8-110412568-G-A c.1276G>A p.D426N Missense 13/78 - 2
8-110412568-G-T c.1276G>T p.D426Y Missense 13/78 - 3
8-110412573-G-C c.1281G>C p.K427N Missense 13/78 - 2
8-110412573-G-T c.1281G>T p.K427N Missense 13/78 - 3
8-110413049-A-G c.1281+476A>G - IntronicSNV - 13/77 1
8-110413726-G-C c.1282G>C p.V428L Missense 14/78 - 2
8-110413726-G-T c.1282G>T p.V428L Missense 14/78 - 1
8-110413730-G-A c.1286G>A p.R429K Missense 14/78 - 4
8-110413729-A-C c.1285A>C p.R429= Synonymous 14/78 - 1
8-110413731-G-A c.1287G>A p.R429= Synonymous 14/78 - 1
8-110413733-T-C c.1289T>C p.I430T Missense 14/78 - 1
8-110413736-C-T c.1292C>T p.A431V Missense 14/78 - 2
8-110413740-T-C c.1296T>C p.Y432= Synonymous 14/78 - 1
8-110413741-C-G c.1297C>G p.H433D Missense 14/78 - 3
8-110413741-C-T c.1297C>T p.H433Y Missense 14/78 - 1
8-110413742-A-G c.1298A>G p.H433R Missense 14/78 - 1
8-110413745-C-A c.1301C>A p.S434Y Missense 14/78 - 1
8-110413748-C-T c.1304C>T p.A435V Missense 14/78 - 1
8-110413749-T-A c.1305T>A p.A435= Synonymous 14/78 - 1
8-110413749-T-C c.1305T>C p.A435= Synonymous 14/78 - 1
8-110413749-T-G c.1305T>G p.A435= Synonymous 14/78 - 1
8-110413751-A-G c.1307A>G p.N436S Missense 14/78 - 2
8-110413752-T-A c.1308T>A p.N436K Missense 14/78 - 2
8-110413752-T-C c.1308T>C p.N436= Synonymous 14/78 - 1
8-110413752-T-G c.1308T>G p.N436K Missense 14/78 - 1
8-110413758-C-T c.1314C>T p.N438= Synonymous 14/78 - 1
8-110413762-T-A c.1318T>A p.Y440N Missense 14/78 - 4
8-110413762-T-C c.1318T>C p.Y440H Missense 14/78 - 33
8-110413764-T-C c.1320T>C p.Y440= Synonymous 14/78 - 3
8-110413769-C-G c.1325C>G p.S442C Missense 14/78 - 1
8-110413769-C-T c.1325C>T p.S442F Missense 14/78 - 5
8-110413772-G-A c.1328G>A p.S443N Missense 14/78 - 1
8-110413772-G-T c.1328G>T p.S443I Missense 14/78 - 2
8-110413780-C-A c.1336C>A p.Q446K Missense 14/78 - 1
8-110413784-G-A c.1340G>A p.R447K Missense 14/78 - 1
8-110413785-A-C c.1341A>C p.R447S Missense 14/78 - 1
8-110413785-A-T c.1341A>T p.R447S Missense 14/78 - 1
8-110413787-C-A c.1343C>A p.S448* Nonsense 14/78 - 1
8-110413787-C-T c.1343C>T p.S448L Missense 14/78 - 1
8-110413788-A-C c.1344A>C p.S448= Synonymous 14/78 - 2
8-110413788-A-G c.1344A>G p.S448= Synonymous 14/78 - 2
8-110413788-A-T c.1344A>T p.S448= Synonymous 14/78 - 2
8-110413789-G-A c.1345G>A p.D449N Missense 14/78 - 1
8-110413792-G-A c.1348G>A p.D450N Missense 14/78 - 1
8-110413797-T-C c.1353T>C p.I451= Synonymous 14/78 - 1
8-110413798-C-T c.1354C>T p.H452Y Missense 14/78 - 6
8-110413802-T-C c.1358T>C p.L453P Missense 14/78 - 1
8-110413802-T-G c.1358T>G p.L453R Missense 14/78 - 2
8-110413809-A-C c.1365A>C p.K455N Missense 14/78 - 1
8-110413809-A-T c.1365A>T p.K455N Missense 14/78 - 1
8-110413810-G-A c.1366G>A p.G456R Missense 14/78 - 6
8-110413810-G-C c.1366G>C p.G456R Missense 14/78 - 2
8-110413811-G-A c.1367G>A p.G456E Missense 14/78 - 3
8-110413811-G-GA c.1371dup p.E458Rfs*5 Frameshift 14/78 - 3
8-110413816-G-GC c.1372_1373insC p.E458Afs*5 SpliceDonorInsertion 14/78 - 1
8-110413824-C-T c.1373+7C>T - IntronicSNV - 14/77 9
8-110413825-T-A c.1373+8T>A - IntronicSNV - 14/77 1
8-110416785-A-G c.1376A>G p.Y459C Missense 15/78 - 1
8-110416786-C-A c.1377C>A p.Y459* Nonsense 15/78 - 2
8-110416786-C-G c.1377C>G p.Y459* Nonsense 15/78 - 3
8-110416786-C-T c.1377C>T p.Y459= Synonymous 15/78 - 2
8-110416793-G-A c.1384G>A p.E462K Missense 15/78 - 6
8-110416798-C-T c.1389C>T p.I463= Synonymous 15/78 - 1
8-110416803-T-C c.1394T>C p.L465P Missense 15/78 - 1
8-110416804-G-C c.1395G>C p.L465= Synonymous 15/78 - 1
8-110416806-A-G c.1397A>G p.Q466R Missense 15/78 - 1
8-110416807-G-T c.1398G>T p.Q466H Missense 15/78 - 1
8-110416808-G-A c.1399G>A p.E467K Missense 15/78 - 6
8-110416810-G-C c.1401G>C p.E467D Missense 15/78 - 1
8-110416812-A-C c.1403A>C p.Y468S Missense 15/78 - 1
8-110416813-C-T c.1404C>T p.Y468= Synonymous 15/78 - 19
8-110416814-AGA-TGT c.1405_1407delinsTGT p.R469C Missense 15/78 - 1
8-110416815-G-A c.1406G>A p.R469K Missense 15/78 - 1
8-110416815-G-C c.1406G>C p.R469T Missense 15/78 - 1
8-110416820-AG-CT c.1411_1412inv p.S471L Missense 15/78 - 2
8-110416820-A-C c.1411A>C p.S471R Missense 15/78 - 1
8-110416822-T-A c.1413T>A p.S471R Missense 15/78 - 1
8-110416822-T-G c.1413T>G p.S471R Missense 15/78 - 1
8-110416823-G-C c.1414G>C p.A472P Missense 15/78 - 1
8-110416824-C-T c.1415C>T p.A472V Missense 15/78 - 3
8-110416828-T-C c.1419T>C p.F473= Synonymous 15/78 - 2
8-110416832-G-C c.1423G>C p.D475H Missense 15/78 - 2
8-110416835-G-A c.1426G>A p.V476I Missense 15/78 - 1
8-110416839-G-C c.1430G>C p.G477A Missense 15/78 - 1
8-110416841-C-T c.1432C>T p.L478= Synonymous 15/78 - 1
8-110416849-G-C c.1440G>C p.Q480H Missense 15/78 - 2
8-110416849-G-T c.1440G>T p.Q480H Missense 15/78 - 1
8-110416850-T-C c.1441T>C p.Y481H Missense 15/78 - 1
8-110416853-C-A c.1444C>A p.R482= Synonymous 15/78 - 2
8-110416853-CG-AC c.1444_1445delinsAC p.R482T Missense 15/78 - 1
8-110416853-C-T c.1444C>T p.R482* Nonsense 15/78 - 4
8-110416855-A-C c.1446A>C p.R482= Synonymous 15/78 - 1
8-110416855-A-G c.1446A>G p.R482= Synonymous 15/78 - 1
8-110416855-A-T c.1446A>T p.R482= Synonymous 15/78 - 1
8-110416854-G-A c.1445G>A p.R482Q Missense 15/78 - 6
8-110416857-A-G c.1448A>G p.N483S Missense 15/78 - 1
8-110416859-G-A c.1450G>A p.V484I Missense 15/78 - 2
8-110416859-TG-T c.1450del p.V484Ffs*11 Frameshift 15/78 - 2
8-110416863-A-G c.1454A>G p.Y485C Missense 15/78 - 1
8-110416867-T-A c.1458T>A p.T486= Synonymous 15/78 - 1
8-110416867-T-C c.1458T>C p.T486= Synonymous 15/78 - 1
8-110416867-T-G c.1458T>G p.T486= Synonymous 15/78 - 1
8-110416878-C-T c.1469C>T p.T490I Missense 15/78 - 2
8-110416880-G-A c.1471G>A p.G491R Missense 15/78 - 2
8-110416880-G-C c.1471G>C p.G491R Missense 15/78 - 2
8-110416880-G-T c.1471G>T p.G491* Nonsense 15/78 - 2
8-110416883-G-C c.1474G>C p.D492H Missense 15/78 - 2
8-110416887-C-A c.1478C>A p.A493E Missense 15/78 - 1
8-110416889-G-A c.1480G>A p.V494M Missense 15/78 - 1
8-110416895-G-A c.1486G>A p.E496K Missense 15/78 - 1
8-110416900-A-C c.1491A>C p.E497D Missense 15/78 - 1
8-110416900-A-T c.1491A>T p.E497D Missense 15/78 - 1
8-110416901-C-A c.1492C>A p.Q498K Missense 15/78 - 1
8-110416902-A-G c.1493A>G p.Q498R Missense 15/78 - 1
8-110416904-G-A c.1495G>A p.V499I Missense 15/78 - 1
8-110416904-GTT-ATG c.1495_1497delinsATG p.V499M Missense 15/78 - 1
8-110416905-T-A c.1496T>A p.V499D Missense 15/78 - 1
8-110416906-T-A c.1497T>A p.V499= Synonymous 15/78 - 1
8-110416906-T-C c.1497T>C p.V499= Synonymous 15/78 - 1
8-110416906-T-G c.1497T>G p.V499= Synonymous 15/78 - 1
8-110416908-T-C c.1499T>C p.I500T Missense 15/78 - 2
8-110416909-C-A c.1500C>A p.I500= Synonymous 15/78 - 1
8-110416909-C-T c.1500C>T p.I500= Synonymous 15/78 - 1
8-110416911-A-C c.1502A>C p.K501T Missense 15/78 - 1
8-110416912-A-C c.1503A>C p.K501N Missense 15/78 - 1
8-110416912-A-T c.1503A>T p.K501N Missense 15/78 - 1
8-110416915-C-A c.1506C>A p.S502= Synonymous 15/78 - 1
8-110416915-C-G c.1506C>G p.S502= Synonymous 15/78 - 1
8-110416915-C-T c.1506C>T p.S502= Synonymous 15/78 - 3
8-110416913-TC-T c.1507del p.Q503Sfs*11 Frameshift 15/78 - 1
8-110416916-C-T c.1507C>T p.Q503* Nonsense 15/78 - 1
8-110416919-T-G c.1510T>G p.S504A Missense 15/78 - 1
8-110416920-CG-TT c.1511_1512delinsTT p.S504F Missense 15/78 - 1
8-110416920-C-T c.1511C>T p.S504L Missense 15/78 - 2
8-110416921-G-A c.1512G>A p.S504= Synonymous 15/78 - 1
8-110416928-C-T c.1519C>T p.L507F Missense 15/78 - 3
8-110416934-G-A c.1525G>A p.E509K Missense 15/78 - 6
8-110416937-GTA-ATG c.1528_1530delinsATG p.V510M Missense 15/78 - 1
8-110416941-A-G c.1532A>G p.Q511R Missense 15/78 - 1
8-110416943-G-A c.1533+1G>A - IntronicSNV - 15/77 2
8-110417228-T-C c.1538T>C p.I513T Missense 16/78 - 2
8-110417228-T-G c.1538T>G p.I513R Missense 16/78 - 1
8-110417231-C-G c.1541C>G p.T514R Missense 16/78 - 3
8-110417235-G-A c.1545G>A p.L515= Synonymous 16/78 - 2
8-110417236-G-A c.1546G>A p.E516K Missense 16/78 - 2
8-110417236-G-C c.1546G>C p.E516Q Missense 16/78 - 1
8-110417238-A-G c.1548A>G p.E516= Synonymous 16/78 - 1
8-110417243-G-T c.1553G>T p.W518L Missense 16/78 - 1
8-110417244-G-T c.1554G>T p.W518C Missense 16/78 - 1
8-110417245-G-A c.1555G>A p.E519K Missense 16/78 - 4
8-110417253-T-A c.1563T>A p.T521= Synonymous 16/78 - 3
8-110417253-T-C c.1563T>C p.T521= Synonymous 16/78 - 3
8-110417253-T-G c.1563T>G p.T521= Synonymous 16/78 - 3
8-110417257-G-T c.1567G>T p.A523S Missense 16/78 - 1
8-110417258-C-T c.1568C>T p.A523V Missense 16/78 - 2
8-110417259-A-C c.1569A>C p.A523= Synonymous 16/78 - 1
8-110417259-A-G c.1569A>G p.A523= Synonymous 16/78 - 1
8-110417259-A-T c.1569A>T p.A523= Synonymous 16/78 - 1
8-110417260-A-T c.1570A>T p.I524F Missense 16/78 - 1
8-110417261-T-A c.1571T>A p.I524N Missense 16/78 - 1
8-110417261-T-G c.1571T>G p.I524S Missense 16/78 - 1
8-110417266-G-A c.1576G>A p.E526K Missense 16/78 - 2
8-110417268-G-C c.1578G>C p.E526D Missense 16/78 - 1
8-110417268-G-T c.1578G>T p.E526D Missense 16/78 - 1
8-110417269-G-T c.1579G>T p.V527F Missense 16/78 - 1
8-110417270-T-G c.1580T>G p.V527G Missense 16/78 - 1
8-110417271-T-A c.1581T>A p.V527= Synonymous 16/78 - 1
8-110417271-T-C c.1581T>C p.V527= Synonymous 16/78 - 1
8-110417271-T-G c.1581T>G p.V527= Synonymous 16/78 - 1
8-110417272-C-T c.1582C>T p.Q528* Nonsense 16/78 - 1
8-110417276-A-G c.1586A>G p.K529R Missense 16/78 - 1
8-110417284-G-A c.1594G>A p.V532I Missense 16/78 - 2
8-110417286-A-C c.1596A>C p.V532= Synonymous 16/78 - 1
8-110417286-A-G c.1596A>G p.V532= Synonymous 16/78 - 1
8-110417286-A-T c.1596A>T p.V532= Synonymous 16/78 - 1
8-110417287-A-C c.1597A>C p.T533P Missense 16/78 - 1
8-110417292-C-T c.1602C>T p.S534= Synonymous 16/78 - 1
8-110417293-C-A c.1603C>A p.P535T Missense 16/78 - 1
8-110417294-C-A c.1604C>A p.P535Q Missense 16/78 - 2
8-110417294-C-T c.1604C>T p.P535L Missense 16/78 - 3
8-110417299-G-C c.1609G>C p.V537L Missense 16/78 - 1
8-110417302-G-A c.1612G>A p.E538K Missense 16/78 - 2
8-110417302-G-T c.1612G>T p.E538* Nonsense 16/78 - 1
8-110417303-A-T c.1613A>T p.E538V Missense 16/78 - 1
8-110417305-G-A c.1615G>A p.A539T Missense 16/78 - 1
8-110417305-G-C c.1615G>C p.A539P Missense 16/78 - 1
8-110417308-A-T c.1618A>T p.N540Y Missense 16/78 - 1
8-110417310-T-G c.1620T>G p.N540K Missense 16/78 - 1
8-110417312-CA-TT c.1622_1623delinsTT p.S541F Missense 16/78 - 1
8-110417312-C-T c.1622C>T p.S541L Missense 16/78 - 3
8-110417318-C-A c.1628C>A p.S543* Nonsense 16/78 - 1
8-110417318-C-G c.1628C>G p.S543* Nonsense 16/78 - 1
8-110417320-C-T c.1630C>T p.L544F Missense 16/78 - 1
8-110417327-A-G c.1637A>G p.Q546R Missense 16/78 - 1
8-110417330-A-G c.1640A>G p.Y547C Missense 16/78 - 1
8-110417332-AGA-TGT c.1642_1644delinsTGT p.R548C Missense 16/78 - 1
8-110417333-G-A c.1643G>A p.R548K Missense 16/78 - 4
8-110417333-G-T c.1643G>T p.R548I Missense 16/78 - 1
8-110417339-T-A c.1649T>A p.I550N Missense 16/78 - 1
8-110417340-C-A c.1650C>A p.I550= Synonymous 16/78 - 1
8-110417340-C-T c.1650C>T p.I550= Synonymous 16/78 - 1
8-110417347-A-G c.1657A>G p.M553V Missense 16/78 - 1
8-110417349-G-A c.1659G>A p.M553I Missense 16/78 - 1
8-110417349-G-C c.1659G>C p.M553I Missense 16/78 - 1
8-110417349-G-T c.1659G>T p.M553I Missense 16/78 - 1
8-110417350-G-A c.1660G>A p.E554K Missense 16/78 - 1
8-110417359-G-C c.1669G>C p.V557L Missense 16/78 - 2
8-110417359-G-T c.1669G>T p.V557F Missense 16/78 - 1
8-110417360-G-C c.1669+1G>C - IntronicSNV - 16/77 1
8-110417509-AG-A c.1669+150del - IntronicDeletion - 16/77 1
8-110417509-G-A c.1669+150G>A - IntronicSNV - 16/77 3
8-110418386-G-A c.1670-178G>A - IntronicSNV - 16/77 2
8-110418461-G-T c.1670-103G>T - IntronicSNV - 16/77 2
8-110418566-T-C c.1672T>C p.F558L Missense 17/78 - 1
8-110418566-T-G c.1672T>G p.F558V Missense 17/78 - 1
8-110418568-C-A c.1674C>A p.F558L Missense 17/78 - 1
8-110418568-C-G c.1674C>G p.F558L Missense 17/78 - 1
8-110418568-C-T c.1674C>T p.F558= Synonymous 17/78 - 3
8-110418569-C-T c.1675C>T p.L559= Synonymous 17/78 - 1
8-110418572-C-G c.1678C>G p.P560A Missense 17/78 - 1
8-110418573-C-T c.1679C>T p.P560L Missense 17/78 - 2
8-110418575-G-T c.1681G>T p.A561S Missense 17/78 - 1
8-110418578-G-A c.1684G>A p.D562N Missense 17/78 - 1
8-110418581-G-A c.1687G>A p.A563T Missense 17/78 - 1
8-110418582-C-T c.1688C>T p.A563V Missense 17/78 - 1
8-110418584-T-G c.1690T>G p.S564A Missense 17/78 - 2
8-110418585-C-G c.1691C>G p.S564C Missense 17/78 - 1
8-110418585-C-T c.1691C>T p.S564F Missense 17/78 - 2
8-110418590-T-C c.1696T>C p.F566L Missense 17/78 - 1
8-110418592-C-T c.1698C>T p.F566= Synonymous 17/78 - 2
8-110418593-A-G c.1699A>G p.I567V Missense 17/78 - 1
8-110418597-T-C c.1703T>C p.L568P Missense 17/78 - 1
8-110418603-C-A c.1709C>A p.S570* Nonsense 17/78 - 1
8-110418603-C-G c.1709C>G p.S570* Nonsense 17/78 - 1
8-110418606-C-A c.1712C>A p.A571D Missense 17/78 - 1
8-110418606-C-T c.1712C>T p.A571V Missense 17/78 - 1
8-110418611-A-T c.1717A>T p.N573Y Missense 17/78 - 1
8-110418612-A-G c.1718A>G p.N573S Missense 17/78 - 1
8-110418614-G-A c.1720G>A p.D574N Missense 17/78 - 1
8-110418614-G-C c.1720G>C p.D574H Missense 17/78 - 1
8-110418615-A-T c.1721A>T p.D574V Missense 17/78 - 1
8-110418617-C-A c.1723C>A p.L575I Missense 17/78 - 1
8-110418618-T-G c.1724T>G p.L575R Missense 17/78 - 1
8-110418622-G-C c.1728G>C p.W576C Missense 17/78 - 1
8-110418622-G-T c.1728G>T p.W576C Missense 17/78 - 1
8-110418624-C-A c.1730C>A p.S577Y Missense 17/78 - 1
8-110418628-A-C c.1734A>C p.I578= Synonymous 17/78 - 1
8-110418628-A-T c.1734A>T p.I578= Synonymous 17/78 - 1
8-110418629-A-G c.1735A>G p.K579E Missense 17/78 - 1
8-110418631-A-C c.1737A>C p.K579N Missense 17/78 - 1
8-110418631-A-T c.1737A>T p.K579N Missense 17/78 - 1
8-110418639-C-A c.1745C>A p.T582K Missense 17/78 - 1
8-110418639-C-T c.1745C>T p.T582I Missense 17/78 - 1
8-110418641-G-C c.1747G>C p.V583L Missense 17/78 - 1
8-110418643-T-A c.1749T>A p.V583= Synonymous 17/78 - 1
8-110418643-T-C c.1749T>C p.V583= Synonymous 17/78 - 1
8-110418643-T-G c.1749T>G p.V583= Synonymous 17/78 - 1
8-110418646-A-T c.1752A>T p.Q584H Missense 17/78 - 1
8-110418653-A-G c.1759A>G p.R587G Missense 17/78 - 1
8-110418653-AG-CA c.1759_1760delinsCA p.R587Q Missense 17/78 - 1
8-110418654-G-C c.1760G>C p.R587T Missense 17/78 - 2
8-110418654-G-T c.1760G>T p.R587I Missense 17/78 - 1
8-110418656-A-G c.1762A>G p.T588A Missense 17/78 - 1
8-110418657-CA-TG c.1763_1764inv p.T588M Missense 17/78 - 1
8-110418665-C-T c.1771C>T p.P591S Missense 17/78 - 3
8-110418670-G-C c.1776G>C p.Q592H Missense 17/78 - 1
8-110418670-G-T c.1776G>T p.Q592H Missense 17/78 - 1
8-110418671-A-T c.1777A>T p.S593C Missense 17/78 - 1
8-110418675-A-G c.1781A>G p.Y594C Missense 17/78 - 1
8-110418676-T-A c.1782T>A p.Y594* Nonsense 17/78 - 1
8-110418676-T-G c.1782T>G p.Y594* Nonsense 17/78 - 1
8-110418677-G-A c.1783G>A p.V595I Missense 17/78 - 1
8-110418679-C-A c.1785C>A p.V595= Synonymous 17/78 - 1
8-110418680-T-C c.1786T>C p.Y596H Missense 17/78 - 1
8-110418685-G-T c.1791G>T p.M597I Missense 17/78 - 1
8-110418687-T-G c.1793T>G p.V598G Missense 17/78 - 1
8-110418688-A-T c.1794A>T p.V598= Synonymous 17/78 - 1
8-110418692-T-C c.1798T>C p.F600L Missense 17/78 - 1
8-110418694-C-A c.1800C>A p.F600L Missense 17/78 - 1
8-110418694-C-G c.1800C>G p.F600L Missense 17/78 - 1
8-110418698-TC-AT c.1804_1805delinsAT p.S602I Missense 17/78 - 1
8-110418699-C-T c.1805C>T p.S602L Missense 17/78 - 2
8-110418705-G-C c.1811G>C p.R604T Missense 17/78 - 1
8-110418707-G-A c.1813G>A p.G605R Missense 17/78 - 2
8-110418707-G-C c.1813G>C p.G605R Missense 17/78 - 1
8-110418719-C-G c.1813+12C>G - IntronicSNV - 17/77 1
8-110418922-G-A c.1813+215G>A - IntronicSNV - 17/77 2
8-110420149-A-T c.1814-129A>T - IntronicSNV - 17/77 1
8-110420158-C-T c.1814-120C>T - IntronicSNV - 17/77 1
8-110420245-T-C c.1814-33T>C - IntronicSNV - 17/77 4
8-110420278-G-A c.1814G>A p.G605E Missense 18/78 - 1
8-110420279-A-C c.1815A>C p.G605= Synonymous 18/78 - 1
8-110420279-A-G c.1815A>G p.G605= Synonymous 18/78 - 1
8-110420279-A-T c.1815A>T p.G605= Synonymous 18/78 - 1
8-110420286-G-C c.1822G>C p.D608H Missense 18/78 - 1
8-110420289-C-G c.1825C>G p.L609V Missense 18/78 - 1
8-110420290-T-C c.1826T>C p.L609P Missense 18/78 - 1
8-110420289-C-T c.1825C>T p.L609= Synonymous 18/78 - 1
8-110420291-G-A c.1827G>A p.L609= Synonymous 18/78 - 1
8-110420291-G-C c.1827G>C p.L609= Synonymous 18/78 - 1
8-110420291-G-T c.1827G>T p.L609= Synonymous 18/78 - 1
8-110420295-GGT-TGG c.1831_1833delinsTGG p.G611W Missense 18/78 - 1
8-110420295-G-T c.1831G>T p.G611C Missense 18/78 - 1
8-110420296-G-A c.1832G>A p.G611D Missense 18/78 - 1
8-110420297-T-A c.1833T>A p.G611= Synonymous 18/78 - 1
8-110420297-T-C c.1833T>C p.G611= Synonymous 18/78 - 1
8-110420297-T-G c.1833T>G p.G611= Synonymous 18/78 - 1
8-110420299-A-G c.1835A>G p.Y612C Missense 18/78 - 1
8-110420301-G-A c.1837G>A p.E613K Missense 18/78 - 3
8-110420304-G-A c.1840G>A p.V614I Missense 18/78 - 2
8-110420306-A-T c.1842A>T p.V614= Synonymous 18/78 - 1
8-110420310-G-A c.1846G>A p.E616K Missense 18/78 - 2
8-110420311-A-G c.1847A>G p.E616G Missense 18/78 - 1
8-110420314-G-T c.1850G>T p.G617V Missense 18/78 - 1
8-110420315-G-A c.1851G>A p.G617= Synonymous 18/78 - 1
8-110420322-G-A c.1858G>A p.V620I Missense 18/78 - 1
8-110420322-G-C c.1858G>C p.V620L Missense 18/78 - 1
8-110420330-G-A c.1866G>A p.L622= Synonymous 18/78 - 2
8-110420329-TG-T c.1867del p.D623Ifs*17 Frameshift 18/78 - 1
8-110420331-G-A c.1867G>A p.D623N Missense 18/78 - 1
8-110420350-A-T c.1886A>T p.K629I Missense 18/78 - 1
8-110420351-A-G c.1887A>G p.K629= Synonymous 18/78 - 1
8-110420352-G-C c.1888G>C p.G630R Missense 18/78 - 1
8-110420352-G-T c.1888G>T p.G630* Nonsense 18/78 - 4
8-110420353-G-A c.1889G>A p.G630E Missense 18/78 - 7
8-110420353-GGA-G c.1889_1890del p.G630Efs*17 Frameshift 18/78 - 1
8-110420353-G-T c.1889G>T p.G630V Missense 18/78 - 1
8-110420355-A-G c.1891A>G p.K631E Missense 18/78 - 1
8-110420356-A-C c.1892A>C p.K631T Missense 18/78 - 1
8-110420353-GA-G c.1893del p.K631Nfs*9 Frameshift 18/78 - 2
8-110420357-A-C c.1893A>C p.K631N Missense 18/78 - 1
8-110420358-C-T c.1894C>T p.P632S Missense 18/78 - 1
8-110420366-G-T c.1902G>T p.L634F Missense 18/78 - 1
8-110420373-T-A c.1909T>A p.F637I Missense 18/78 - 1
8-110420376-A-T c.1912A>T p.T638S Missense 18/78 - 2
8-110420380-T-A c.1916T>A p.L639Q Missense 18/78 - 1
8-110420379-C-T c.1915C>T p.L639= Synonymous 18/78 - 1
8-110420381-G-A c.1917G>A p.L639= Synonymous 18/78 - 1
8-110420381-G-C c.1917G>C p.L639= Synonymous 18/78 - 1
8-110420381-G-T c.1917G>T p.L639= Synonymous 18/78 - 1
8-110420382-A-T c.1918A>T p.N640Y Missense 18/78 - 1
8-110420384-T-A c.1920T>A p.N640K Missense 18/78 - 1
8-110420384-T-C c.1920T>C p.N640= Synonymous 18/78 - 14
8-110420387-G-T c.1923G>T p.W641C Missense 18/78 - 1
8-110420393-G-A c.1929G>A p.G643= Synonymous 18/78 - 2
8-110420393-G-C c.1929G>C p.G643= Synonymous 18/78 - 1
8-110420393-G-T c.1929G>T p.G643= Synonymous 18/78 - 1
8-110420394-A-G c.1930A>G p.I644V Missense 18/78 - 1
8-110420396-C-G c.1932C>G p.I644M Missense 18/78 - 1
8-110420396-C-T c.1932C>T p.I644= Synonymous 18/78 - 1
8-110420397-G-A c.1933G>A p.A645T Missense 18/78 - 2
8-110420397-G-C c.1933G>C p.A645P Missense 18/78 - 1
8-110420397-G-T c.1933G>T p.A645S Missense 18/78 - 1
8-110420401-C-T c.1937C>T p.S646F Missense 18/78 - 3
8-110420405-G-T c.1941G>T p.K647N Missense 18/78 - 1
8-110420406-C-A c.1942C>A p.P648T Missense 18/78 - 3
8-110420406-C-T c.1942C>T p.P648S Missense 18/78 - 2
8-110420408-A-C c.1944A>C p.P648= Synonymous 18/78 - 2
8-110420408-A-G c.1944A>G p.P648= Synonymous 18/78 - 2
8-110420408-A-T c.1944A>T p.P648= Synonymous 18/78 - 2
8-110420412-A-G c.1948A>G p.T650A Missense 18/78 - 1
8-110420413-C-T c.1949C>T p.T650I Missense 18/78 - 1
8-110420415-CTA-ATG c.1951_1953delinsATG p.L651M Missense 18/78 - 1
8-110420418-T-C c.1954T>C p.W652R Missense 18/78 - 1
8-110420420-G-T c.1956G>T p.W652C Missense 18/78 - 1
8-110420424-T-C c.1960T>C p.S654P Missense 18/78 - 1
8-110420425-C-A c.1961C>A p.S654* Nonsense 18/78 - 2
8-110420425-C-G c.1961C>G p.S654* Nonsense 18/78 - 2
8-110420426-A-C c.1962A>C p.S654= Synonymous 18/78 - 1
8-110420426-A-G c.1962A>G p.S654= Synonymous 18/78 - 1
8-110420426-A-T c.1962A>T p.S654= Synonymous 18/78 - 1
8-110420427-G-C c.1963G>C p.E655Q Missense 18/78 - 1
8-110420428-A-C c.1964A>C p.E655A Missense 18/78 - 1
8-110420429-A-G c.1965A>G p.E655= Synonymous 18/78 - 15
8-110420431-C-T c.1967C>T p.A656V Missense 18/78 - 1
8-110420435-A-C c.1971A>C p.E657D Missense 18/78 - 3
8-110420436-G-T c.1971+1G>T - IntronicSNV - 18/77 1
8-110420437-T-A c.1971+2T>A - IntronicSNV - 18/77 1
8-110420438-A-G c.1971+3A>G - IntronicSNV - 18/77 1
8-110420440-G-T c.1971+5G>T - IntronicSNV - 18/77 1
8-110422094-T-C c.1972T>C p.F658L Missense 19/78 - 2
8-110422096-T-A c.1974T>A p.F658L Missense 19/78 - 1
8-110422096-T-G c.1974T>G p.F658L Missense 19/78 - 1
8-110422097-C-T c.1975C>T p.Q659* Nonsense 19/78 - 1
8-110422097-TCAG-T c.1975_1977del p.Q659del InFrameDeletion 19/78 - 1
8-110422100-G-A c.1978G>A p.G660R Missense 19/78 - 1
8-110422100-G-C c.1978G>C p.G660R Missense 19/78 - 1
8-110422100-G-T c.1978G>T p.G660* Nonsense 19/78 - 1
8-110422109-G-A c.1987G>A p.E663K Missense 19/78 - 2
8-110422112-G-A c.1990G>A p.E664K Missense 19/78 - 4
8-110422122-G-A c.2000G>A p.S667N Missense 19/78 - 1
8-110422133-C-A c.2011C>A p.P671T Missense 19/78 - 1
8-110422134-C-A c.2012C>A p.P671Q Missense 19/78 - 1
8-110422134-C-T c.2012C>T p.P671L Missense 19/78 - 1
8-110422136-C-A c.2014C>A p.P672T Missense 19/78 - 1
8-110422146-C-T c.2024C>T p.A675V Missense 19/78 - 1
8-110422147-A-C c.2025A>C p.A675= Synonymous 19/78 - 1
8-110422147-A-G c.2025A>G p.A675= Synonymous 19/78 - 1
8-110422147-A-T c.2025A>T p.A675= Synonymous 19/78 - 1
8-110422152-T-G c.2030T>G p.F677C Missense 19/78 - 4
8-110422154-G-A c.2032G>A p.E678K Missense 19/78 - 2
8-110422157-G-A c.2035G>A p.E679K Missense 19/78 - 1
8-110422157-G-T c.2035G>T p.E679* Nonsense 19/78 - 1
8-110422161-G-A c.2039G>A p.G680E Missense 19/78 - 2
8-110422161-GA-AC c.2039_2040delinsAC p.G680D Missense 19/78 - 1
8-110422164-T-G c.2042T>G p.F681C Missense 19/78 - 3
8-110422167-T-C c.2045T>C p.V682A Missense 19/78 - 4
8-110422169-G-A c.2047G>A p.V683M Missense 19/78 - 1
8-110422170-T-G c.2048T>G p.V683G Missense 19/78 - 1
8-110422177-T-A c.2055T>A p.Y685* Nonsense 19/78 - 1
8-110422181-AG-CC c.2059_2060delinsCC p.R687P Missense 19/78 - 1
8-110422182-G-A c.2060G>A p.R687K Missense 19/78 - 3
8-110422186-C-T c.2064C>T p.D688= Synonymous 19/78 - 2
8-110422189-T-A c.2067T>A p.Y689* Nonsense 19/78 - 1
8-110422189-T-G c.2067T>G p.Y689* Nonsense 19/78 - 1
8-110422194-CT-TG c.2072_2073delinsTG p.T691M Missense 19/78 - 1
8-110422195-T-A c.2073T>A p.T691= Synonymous 19/78 - 1
8-110422195-T-C c.2073T>C p.T691= Synonymous 19/78 - 1
8-110422195-T-G c.2073T>G p.T691= Synonymous 19/78 - 1
8-110422196-G-A c.2074G>A p.D692N Missense 19/78 - 5
8-110422196-G-T c.2074G>T p.D692Y Missense 19/78 - 1
8-110422204-T-C c.2082T>C p.N694= Synonymous 19/78 - 1
8-110422205-C-T c.2083C>T p.L695= Synonymous 19/78 - 1
8-110422206-T-A c.2084T>A p.L695Q Missense 19/78 - 1
8-110422350-G-A c.2085+143G>A - IntronicSNV - 19/77 2
8-110422387-G-A c.2085+180G>A - IntronicSNV - 19/77 1
8-110422387-G-C c.2085+180G>C - IntronicSNV - 19/77 1
8-110422387-G-T c.2085+180G>T - IntronicSNV - 19/77 2
8-110424176-G-A c.2086-318G>A - IntronicSNV - 19/77 1
8-110424176-G-C c.2086-318G>C - IntronicSNV - 19/77 1
8-110424176-G-T c.2086-318G>T - IntronicSNV - 19/77 1
8-110424457-A-G c.2086-37A>G - IntronicSNV - 19/77 1
8-110424494-G-A c.2086G>A p.E696K Missense 20/78 - 1
8-110424495-A-C c.2087A>C p.E696A Missense 20/78 - 1
8-110424499-T-C c.2091T>C p.H697= Synonymous 20/78 - 1
8-110424500-A-G c.2092A>G p.I698V Missense 20/78 - 1
8-110424502-T-G c.2094T>G p.I698M Missense 20/78 - 1
8-110424504-A-G c.2096A>G p.N699S Missense 20/78 - 3
8-110424508-A-G c.2100A>G p.R700= Synonymous 20/78 - 1
8-110424511-G-A c.2103G>A p.G701= Synonymous 20/78 - 1
8-110424512-C-A c.2104C>A p.Q702K Missense 20/78 - 6
8-110424512-C-T c.2104C>T p.Q702* Nonsense 20/78 - 1
8-110424513-A-C c.2105A>C p.Q702P Missense 20/78 - 3
8-110424514-G-C c.2106G>C p.Q702H Missense 20/78 - 4
8-110424514-G-T c.2106G>T p.Q702H Missense 20/78 - 2
8-110424517-G-A c.2109G>A p.K703= Synonymous 20/78 - 1
8-110424519-CA-AC c.2111_2112delinsAC p.T704N Missense 20/78 - 1
8-110424521-G-A c.2113G>A p.A705T Missense 20/78 - 1
8-110424522-C-G c.2114C>G p.A705G Missense 20/78 - 1
8-110424524-G-A c.2116G>A p.E706K Missense 20/78 - 1
8-110424526-A-C c.2118A>C p.E706D Missense 20/78 - 1
8-110424530-G-T c.2122G>T p.D708Y Missense 20/78 - 3
8-110424533-G-T c.2125G>T p.A709S Missense 20/78 - 1
8-110424542-G-T c.2134G>T p.G712C Missense 20/78 - 2
8-110424545-C-A c.2137C>A p.R713S Missense 20/78 - 1
8-110424545-C-T c.2137C>T p.R713C Missense 20/78 - 2
8-110424546-G-A c.2138G>A p.R713H Missense 20/78 - 1
8-110424547-T-A c.2139T>A p.R713= Synonymous 20/78 - 1
8-110424547-T-C c.2139T>C p.R713= Synonymous 20/78 - 1
8-110424547-T-G c.2139T>G p.R713= Synonymous 20/78 - 1
8-110424551-TC-CG c.2143_2144delinsCG p.S715R Missense 20/78 - 1
8-110424552-C-T c.2144C>T p.S715F Missense 20/78 - 3
8-110424553-C-A c.2145C>A p.S715= Synonymous 20/78 - 1
8-110424553-C-G c.2145C>G p.S715= Synonymous 20/78 - 1
8-110424553-C-T c.2145C>T p.S715= Synonymous 20/78 - 1
8-110424554-C-G c.2146C>G p.L716V Missense 20/78 - 1
8-110424556-G-A c.2148G>A p.L716= Synonymous 20/78 - 1
8-110424557-A-G c.2149A>G p.K717E Missense 20/78 - 1
8-110424556-GAAA-G c.2151_2153del p.K717del InFrameDeletion 20/78 - 1
8-110424556-GA-G c.2153del p.N718Tfs*31 Frameshift 20/78 - 3
8-110424561-A-C c.2153A>C p.N718T Missense 20/78 - 2
8-110424563-C-T c.2155C>T p.P719S Missense 20/78 - 3
8-110424565-A-AG c.2158dup p.A720Gfs*5 Frameshift 20/78 - 1
8-110424566-G-A c.2158G>A p.A720T Missense 20/78 - 1
8-110424567-C-G c.2159C>G p.A720G Missense 20/78 - 1
8-110424572-C-T c.2164C>T p.L722F Missense 20/78 - 1
8-110424574-T-G c.2166T>G p.L722= Synonymous 20/78 - 1
8-110424572-CT-C c.2169del p.F723Lfs*26 Frameshift 20/78 - 2
8-110424581-T-G c.2173T>G p.S725A Missense 20/78 - 1
8-110424585-C-A c.2177C>A p.A726E Missense 20/78 - 3
8-110424586-A-C c.2178A>C p.A726= Synonymous 20/78 - 1
8-110424586-A-G c.2178A>G p.A726= Synonymous 20/78 - 1
8-110424586-A-T c.2178A>T p.A726= Synonymous 20/78 - 1
8-110424588-A-T c.2180A>T p.D727V Missense 20/78 - 1
8-110424589-T-A c.2181T>A p.D727E Missense 20/78 - 1
8-110424589-T-G c.2181T>G p.D727E Missense 20/78 - 1
8-110424590-G-T c.2182G>T p.V728F Missense 20/78 - 1
8-110424600-A-G c.2192A>G p.N731S Missense 20/78 - 1
8-110424602-A-G c.2194A>G p.R732G Missense 20/78 - 2
8-110424605-C-T c.2197C>T p.R733* Nonsense 20/78 - 5
8-110424606-G-A c.2198G>A p.R733Q Missense 20/78 - 3
8-110424608-C-T c.2200C>T p.P734S Missense 20/78 - 7
8-110424612-A-G c.2204A>G p.Y735C Missense 20/78 - 1
8-110424614-G-A c.2206G>A p.G736R Missense 20/78 - 4
8-110424614-G-C c.2206G>C p.G736R Missense 20/78 - 1
8-110424614-GGA-AGC c.2206_2208delinsAGC p.G736S Missense 20/78 - 1
8-110424614-GG-AC c.2206_2207delinsAC p.G736T Missense 20/78 - 1
8-110424615-G-A c.2207G>A p.G736E Missense 20/78 - 4
8-110424617-G-A c.2209G>A p.D737N Missense 20/78 - 1
8-110424617-G-C c.2209G>C p.D737H Missense 20/78 - 2
8-110424620-A-G c.2212A>G p.I738V Missense 20/78 - 1
8-110424623-T-G c.2215T>G p.L739V Missense 20/78 - 2
8-110424626-T-C c.2218T>C p.L740= Synonymous 20/78 - 2
8-110424628-G-A c.2220G>A p.L740= Synonymous 20/78 - 2
8-110424627-T-A c.2219T>A p.L740* Nonsense 20/78 - 1
8-110424629-T-C c.2221T>C p.F741L Missense 20/78 - 1
8-110424631-T-A c.2223T>A p.F741L Missense 20/78 - 1
8-110424631-T-G c.2223T>G p.F741L Missense 20/78 - 1
8-110424632-C-T c.2224C>T p.P742S Missense 20/78 - 10
8-110424633-C-G c.2225C>G p.P742R Missense 20/78 - 2
8-110424633-C-T c.2225C>T p.P742L Missense 20/78 - 3
8-110424637-T-A c.2229T>A p.Y743* Nonsense 20/78 - 2
8-110424637-T-G c.2229T>G p.Y743* Nonsense 20/78 - 2
8-110425059-C-T c.2235+416C>T - IntronicSNV - 20/77 1
8-110425552-G-T c.2236-98G>T - IntronicSNV - 20/77 1
8-110425594-G-A c.2236-56G>A - IntronicSNV - 20/77 4
8-110425652-A-C c.2238A>C p.L746F Missense 21/78 - 1
8-110425652-A-T c.2238A>T p.L746F Missense 21/78 - 1
8-110425663-A-G c.2249A>G p.Y750C Missense 21/78 - 1
8-110425669-G-C c.2255G>C p.G752A Missense 21/78 - 1
8-110425676-G-A c.2262G>A p.L754= Synonymous 21/78 - 1
8-110425677-G-A c.2263G>A p.A755T Missense 21/78 - 1
8-110425678-C-A c.2264C>A p.A755E Missense 21/78 - 1
8-110425678-C-T c.2264C>T p.A755V Missense 21/78 - 1
8-110425681-A-G c.2267A>G p.N756S Missense 21/78 - 1
8-110425681-A-T c.2267A>T p.N756I Missense 21/78 - 1
8-110425687-T-C c.2273T>C p.I758T Missense 21/78 - 1
8-110425697-A-G c.2283A>G p.K761= Synonymous 21/78 - 1
8-110425700-T-C c.2286T>C p.F762= Synonymous 21/78 - 1
8-110425702-A-G c.2288A>G p.Q763R Missense 21/78 - 1
8-110425704-T-C c.2290T>C p.Y764H Missense 21/78 - 1
8-110425705-A-G c.2291A>G p.Y764C Missense 21/78 - 1
8-110425706-C-A c.2292C>A p.Y764* Nonsense 21/78 - 1
8-110425706-C-G c.2292C>G p.Y764* Nonsense 21/78 - 1
8-110425706-C-T c.2292C>T p.Y764= Synonymous 21/78 - 1
8-110425707-C-T c.2293C>T p.Q765* Nonsense 21/78 - 1
8-110425710-G-A c.2296G>A p.D766N Missense 21/78 - 1
8-110425713-A-G c.2299A>G p.N767D Missense 21/78 - 1
8-110425714-A-G c.2300A>G p.N767S Missense 21/78 - 1
8-110425718-C-T c.2304C>T p.S768= Synonymous 21/78 - 1
8-110425722-A-G c.2308A>G p.I770V Missense 21/78 - 1
8-110425725-A-T c.2311A>T p.T771S Missense 21/78 - 1
8-110425726-C-G c.2312C>G p.T771S Missense 21/78 - 1
8-110425727-T-A c.2313T>A p.T771= Synonymous 21/78 - 1
8-110425727-T-C c.2313T>C p.T771= Synonymous 21/78 - 1
8-110425727-T-G c.2313T>G p.T771= Synonymous 21/78 - 1
8-110425729-G-C c.2315G>C p.R772T Missense 21/78 - 2
8-110425733-C-T c.2319C>T p.S773= Synonymous 21/78 - 1
8-110425737-G-A c.2323G>A p.D775N Missense 21/78 - 1
8-110425745-G-A c.2331G>A p.Q777= Synonymous 21/78 - 1
8-110425745-G-C c.2331G>C p.Q777H Missense 21/78 - 1
8-110425746-T-A c.2332T>A p.F778I Missense 21/78 - 1
8-110425750-C-T c.2336C>T p.T779I Missense 21/78 - 1
8-110425752-T-A c.2338T>A p.Y780N Missense 21/78 - 2
8-110425755-A-G c.2341A>G p.N781D Missense 21/78 - 1
8-110425761-TG-T c.2347del p.A783Lfs*11 Frameshift 21/78 - 1
8-110425768-G-A c.2354G>A p.G785E Missense 21/78 - 4
8-110425779-G-T c.2360+5G>T - IntronicSNV - 21/77 1
8-110428154-G-A c.2360+2380G>A - IntronicSNV - 21/77 1
8-110431058-G-C c.2361-268G>C - IntronicSNV - 21/77 1
8-110431217-G-A c.2361-109G>A - IntronicSNV - 21/77 3
8-110431217-G-T c.2361-109G>T - IntronicSNV - 21/77 3
8-110431326-C-T c.2361C>T p.N787= Synonymous 22/78 - 1
8-110431327-T-C c.2362T>C p.W788R Missense 22/78 - 1
8-110431328-G-A c.2363G>A p.W788* Nonsense 22/78 - 4
8-110431328-G-T c.2363G>T p.W788L Missense 22/78 - 3
8-110431329-G-A c.2364G>A p.W788* Nonsense 22/78 - 3
8-110431330-A-G c.2365A>G p.T789A Missense 22/78 - 1
8-110431337-C-T c.2372C>T p.T791I Missense 22/78 - 1
8-110431341-C-G c.2376C>G p.C792W Missense 22/78 - 1
8-110431345-AG-A c.2380del p.D794Tfs*6 Frameshift 22/78 - 1
8-110431348-C-A c.2383C>A p.L795I Missense 22/78 - 2
8-110431348-C-CT c.2385dup p.L796Sfs*19 Frameshift 22/78 - 1
8-110431354-G-A c.2389G>A p.D797N Missense 22/78 - 5
8-110431356-T-A c.2391T>A p.D797E Missense 22/78 - 1
8-110431359-C-T c.2394C>T p.L798= Synonymous 22/78 - 1
8-110431360-G-A c.2395G>A p.V799I Missense 22/78 - 4
8-110431361-T-C c.2396T>C p.V799A Missense 22/78 - 1
8-110431363-AGA-TGG c.2398_2400delinsTGG p.R800W Missense 22/78 - 2
8-110431363-AGA-TGT c.2398_2400delinsTGT p.R800C Missense 22/78 - 1
8-110431363-A-T c.2398A>T p.R800* Nonsense 22/78 - 1
8-110431364-G-A c.2399G>A p.R800K Missense 22/78 - 2
8-110431364-G-T c.2399G>T p.R800I Missense 22/78 - 1
8-110431363-A-C c.2398A>C p.R800= Synonymous 22/78 - 1
8-110431365-A-G c.2400A>G p.R800= Synonymous 22/78 - 1
8-110431367-C-A c.2402C>A p.T801K Missense 22/78 - 1
8-110431367-C-T c.2402C>T p.T801M Missense 22/78 - 7
8-110431368-G-A c.2403G>A p.T801= Synonymous 22/78 - 9
8-110431368-G-C c.2403G>C p.T801= Synonymous 22/78 - 3
8-110431368-G-T c.2403G>T p.T801= Synonymous 22/78 - 3
8-110431379-G-C c.2414G>C p.G805A Missense 22/78 - 1
8-110431379-G-T c.2414G>T p.G805V Missense 22/78 - 4
8-110431380-G-A c.2415G>A p.G805= Synonymous 22/78 - 2
8-110431380-G-C c.2415G>C p.G805= Synonymous 22/78 - 1
8-110431380-G-T c.2415G>T p.G805= Synonymous 22/78 - 1
8-110431382-C-A c.2417C>A p.T806K Missense 22/78 - 1
8-110431390-T-C c.2425T>C p.S809P Missense 22/78 - 1
8-110431399-A-T c.2434A>T p.R812W Missense 22/78 - 1
8-110431400-G-A c.2435G>A p.R812K Missense 22/78 - 1
8-110431401-G-A c.2436G>A p.R812= Synonymous 22/78 - 2
8-110431401-G-T c.2436G>T p.R812S Missense 22/78 - 2
8-110431403-T-C c.2438T>C p.I813T Missense 22/78 - 1
8-110431409-T-C c.2444T>C p.L815S Missense 22/78 - 1
8-110431415-A-C c.2450A>C p.K817T Missense 22/78 - 1
8-110431417-G-A c.2452G>A p.A818T Missense 22/78 - 1
8-110431418-C-T c.2453C>T p.A818V Missense 22/78 - 1
8-110431421-C-T c.2456C>T p.S819L Missense 22/78 - 2
8-110431423-G-A c.2458G>A p.E820K Missense 22/78 - 2
8-110431427-CA-GT c.2462_2463delinsGT p.S821C Missense 22/78 - 1
8-110431433-C-G c.2468C>G p.S823C Missense 22/78 - 1
8-110431433-C-T c.2468C>T p.S823F Missense 22/78 - 1
8-110431436-T-G c.2471T>G p.F824C Missense 22/78 - 1
8-110431437-C-G c.2472C>G p.F824L Missense 22/78 - 1
8-110431437-C-T c.2472C>T p.F824= Synonymous 22/78 - 3
8-110431438-T-G c.2473T>G p.Y825D Missense 22/78 - 1
8-110431439-A-T c.2474A>T p.Y825F Missense 22/78 - 1
8-110431444-G-A c.2479G>A p.D827N Missense 22/78 - 2
8-110431447-TG-T c.2482del p.V828* Frameshift 22/78 - 1
8-110431455-AC-A c.2490del p.Y830* Frameshift 22/78 - 1
8-110431456-A-C c.2491A>C p.I831L Missense 22/78 - 2
8-110431459-G-A c.2494G>A p.G832R Missense 22/78 - 4
8-110431460-G-A c.2495G>A p.G832E Missense 22/78 - 2
8-110431462-C-A c.2497C>A p.H833N Missense 22/78 - 1
8-110431467-A-C c.2502A>C p.T834= Synonymous 22/78 - 1
8-110431467-A-G c.2502A>G p.T834= Synonymous 22/78 - 1
8-110431467-A-T c.2502A>T p.T834= Synonymous 22/78 - 1
8-110431469-C-G c.2504C>G p.S835C Missense 22/78 - 1
8-110431472-C-T c.2507C>T p.T836I Missense 22/78 - 1
8-110431476-C-A c.2511C>A p.I837= Synonymous 22/78 - 1
8-110431476-C-T c.2511C>T p.I837= Synonymous 22/78 - 1
8-110431478-C-T c.2513C>T p.S838L Missense 22/78 - 1
8-110431482-A-C c.2517A>C p.T839= Synonymous 22/78 - 1
8-110431482-A-G c.2517A>G p.T839= Synonymous 22/78 - 1
8-110431482-A-T c.2517A>T p.T839= Synonymous 22/78 - 1
8-110431489-G-T c.2524G>T p.E842* Nonsense 22/78 - 1
8-110432741-C-A c.2525-6C>A - IntronicSNV - 22/77 1
8-110432752-C-T c.2530C>T p.P844S Missense 23/78 - 2
8-110432755-A-C c.2533A>C p.K845Q Missense 23/78 - 1
8-110432757-G-C c.2535G>C p.K845N Missense 23/78 - 2
8-110432759-G-A c.2537G>A p.R846K Missense 23/78 - 2
8-110432761-A-C c.2539A>C p.R847= Synonymous 23/78 - 1
8-110432763-A-G c.2541A>G p.R847= Synonymous 23/78 - 1
8-110432765-T-A c.2543T>A p.L848H Missense 23/78 - 4
8-110432768-C-A c.2546C>A p.P849H Missense 23/78 - 2
8-110432768-C-G c.2546C>G p.P849R Missense 23/78 - 1
8-110432768-C-T c.2546C>T p.P849L Missense 23/78 - 5
8-110432768-CT-AA c.2546_2547delinsAA p.P849Q Missense 23/78 - 1
8-110432770-G-T c.2548G>T p.A850S Missense 23/78 - 1
8-110432777-C-A c.2555C>A p.A852E Missense 23/78 - 1
8-110432778-A-C c.2556A>C p.A852= Synonymous 23/78 - 1
8-110432778-A-G c.2556A>G p.A852= Synonymous 23/78 - 1
8-110432778-A-T c.2556A>T p.A852= Synonymous 23/78 - 1
8-110432781-T-C c.2559T>C p.N853= Synonymous 23/78 - 1
8-110432782-A-T c.2560A>T p.K854* Nonsense 23/78 - 1
8-110432784-A-G c.2562A>G p.K854= Synonymous 23/78 - 1
8-110432784-A-T c.2562A>T p.K854N Missense 23/78 - 2
8-110432786-G-A c.2564G>A p.G855E Missense 23/78 - 1
8-110432788-A-G c.2566A>G p.I856V Missense 23/78 - 1
8-110432789-T-C c.2567T>C p.I856T Missense 23/78 - 1
8-110432790-A-G c.2568A>G p.I856M Missense 23/78 - 1
8-110432797-G-A c.2575G>A p.E859K Missense 23/78 - 1
8-110432806-C-G c.2584C>G p.Q862E Missense 23/78 - 1
8-110432808-G-C c.2586G>C p.Q862H Missense 23/78 - 3
8-110432808-G-T c.2586G>T p.Q862H Missense 23/78 - 2
8-110432811-G-A c.2589G>A p.V863= Synonymous 23/78 - 1
8-110432817-G-A c.2595G>A p.Q865= Synonymous 23/78 - 1
8-110432817-G-C c.2595G>C p.Q865H Missense 23/78 - 1
8-110432817-G-T c.2595G>T p.Q865H Missense 23/78 - 1
8-110432819-C-A c.2597C>A p.T866N Missense 23/78 - 1
8-110432820-C-A c.2598C>A p.T866= Synonymous 23/78 - 1
8-110432820-C-G c.2598C>G p.T866= Synonymous 23/78 - 1
8-110432820-C-T c.2598C>T p.T866= Synonymous 23/78 - 1
8-110432824-A-G c.2602A>G p.T868A Missense 23/78 - 1
8-110432825-C-A c.2603C>A p.T868K Missense 23/78 - 1
8-110432825-CA-AC c.2603_2604delinsAC p.T868N Missense 23/78 - 1
8-110432828-A-G c.2606A>G p.N869S Missense 23/78 - 1
8-110432829-T-C c.2607T>C p.N869= Synonymous 23/78 - 1
8-110432830-G-A c.2608G>A p.G870R Missense 23/78 - 5
8-110432830-G-C c.2608G>C p.G870R Missense 23/78 - 1
8-110432833-C-A c.2611C>A p.P871T Missense 23/78 - 2
8-110432833-C-T c.2611C>T p.P871S Missense 23/78 - 1
8-110432834-C-A c.2612C>A p.P871Q Missense 23/78 - 2
8-110432834-C-T c.2612C>T p.P871L Missense 23/78 - 2
8-110432836-A-T c.2614A>T p.T872S Missense 23/78 - 1
8-110432841-G-A c.2619G>A p.M873I Missense 23/78 - 2
8-110432841-G-C c.2619G>C p.M873I Missense 23/78 - 1
8-110432841-G-T c.2619G>T p.M873I Missense 23/78 - 1
8-110432846-A-G c.2624A>G p.N875S Missense 23/78 - 1
8-110432847-C-T c.2625C>T p.N875= Synonymous 23/78 - 1
8-110432848-C-A c.2626C>A p.Q876K Missense 23/78 - 3
8-110432849-A-G c.2627A>G p.Q876R Missense 23/78 - 2
8-110432853-T-A c.2631T>A p.Y877* Nonsense 23/78 - 1
8-110432853-T-G c.2631T>G p.Y877* Nonsense 23/78 - 1
8-110432854-TC-AA c.2632_2633delinsAA p.S878N Missense 23/78 - 1
8-110432855-C-T c.2633C>T p.S878F Missense 23/78 - 5
8-110432857-G-A c.2635G>A p.V879I Missense 23/78 - 1
8-110432858-T-G c.2636T>G p.V879G Missense 23/78 - 1
8-110432859-T-A c.2637T>A p.V879= Synonymous 23/78 - 1
8-110432859-T-C c.2637T>C p.V879= Synonymous 23/78 - 1
8-110432859-T-G c.2637T>G p.V879= Synonymous 23/78 - 1
8-110432861-C-T c.2639C>T p.T880I Missense 23/78 - 1
8-110432866-A-T c.2644A>T p.T882S Missense 23/78 - 1
8-110432867-C-G c.2645C>G p.T882S Missense 23/78 - 1
8-110432868-T-C c.2646T>C p.T882= Synonymous 23/78 - 1
8-110432868-T-G c.2646T>G p.T882= Synonymous 23/78 - 1
8-110432870-C-T c.2648C>T p.S883L Missense 23/78 - 2
8-110432873-A-G c.2651A>G p.Y884C Missense 23/78 - 4
8-110432876-A-G c.2654A>G p.N885S Missense 23/78 - 1
8-110432879-G-T c.2657G>T p.C886F Missense 23/78 - 3
8-110432884-T-A c.2662T>A p.Y888N Missense 23/78 - 1
8-110432889-T-C c.2667T>C p.N889= Synonymous 23/78 - 1
8-110432895-C-G c.2673C>G p.P891= Synonymous 23/78 - 1
8-110432895-C-T c.2673C>T p.P891= Synonymous 23/78 - 1
8-110432898-G-A c.2676G>A p.M892I Missense 23/78 - 3
8-110432898-G-C c.2676G>C p.M892I Missense 23/78 - 2
8-110432898-G-T c.2676G>T p.M892I Missense 23/78 - 2
8-110432899-A-G c.2677A>G p.M893V Missense 23/78 - 2
8-110432901-G-T c.2679G>T p.M893I Missense 23/78 - 1
8-110432902-G-T c.2680G>T p.A894S Missense 23/78 - 1
8-110432903-C-A c.2681C>A p.A894D Missense 23/78 - 1
8-110432903-C-T c.2681C>T p.A894V Missense 23/78 - 3
8-110432909-G-A c.2687G>A p.S896N Missense 23/78 - 2
8-110432911-T-C c.2689T>C p.F897L Missense 23/78 - 2
8-110432913-T-A c.2691T>A p.F897L Missense 23/78 - 2
8-110432913-T-G c.2691T>G p.F897L Missense 23/78 - 2
8-110432916-G-T c.2694G>T p.G898= Synonymous 23/78 - 1
8-110437123-T-TTTGG c.2698-190_2698-187dup - IntronicInsertion - 23/77 1
8-110437324-A-G c.2708A>G p.H903R Missense 24/78 - 2
8-110437327-A-T c.2711A>T p.E904V Missense 24/78 - 1
8-110437328-G-C c.2712G>C p.E904D Missense 24/78 - 1
8-110437329-A-G c.2713A>G p.T905A Missense 24/78 - 1
8-110437331-A-G c.2715A>G p.T905= Synonymous 24/78 - 1
8-110437332-G-A c.2716G>A p.E906K Missense 24/78 - 2
8-110437334-G-A c.2718G>A p.E906= Synonymous 24/78 - 3
8-110437337-C-T c.2721C>T p.N907= Synonymous 24/78 - 3
8-110437338-G-A c.2722G>A p.E908K Missense 24/78 - 5
8-110437338-G-C c.2722G>C p.E908Q Missense 24/78 - 1
8-110437344-G-T c.2728G>T p.V910F Missense 24/78 - 1
8-110437345-T-C c.2729T>C p.V910A Missense 24/78 - 3
8-110437346-C-A c.2730C>A p.V910= Synonymous 24/78 - 1
8-110437347-T-A c.2731T>A p.Y911N Missense 24/78 - 1
8-110437347-T-G c.2731T>G p.Y911D Missense 24/78 - 1
8-110437350-AG-CA c.2734_2735delinsCA p.R912Q Missense 24/78 - 1
8-110437353-G-A c.2737G>A p.G913R Missense 24/78 - 1
8-110437353-GG-AA c.2737_2738delinsAA p.G913K Missense 24/78 - 1
8-110437354-G-A c.2738G>A p.G913E Missense 24/78 - 9
8-110437354-G-C c.2738G>C p.G913A Missense 24/78 - 1
8-110437357-A-G c.2741A>G p.N914S Missense 24/78 - 1
8-110437359-A-C c.2743A>C p.N915H Missense 24/78 - 3
8-110437359-A-T c.2743A>T p.N915Y Missense 24/78 - 3
8-110437366-C-A c.2750C>A p.P917Q Missense 24/78 - 2
8-110437366-C-T c.2750C>T p.P917L Missense 24/78 - 1
8-110437368-G-A c.2752G>A p.G918S Missense 24/78 - 5
8-110437368-G-C c.2752G>C p.G918R Missense 24/78 - 1
8-110437370-C-A c.2754C>A p.G918= Synonymous 24/78 - 1
8-110437370-C-G c.2754C>G p.G918= Synonymous 24/78 - 2
8-110437370-C-T c.2754C>T p.G918= Synonymous 24/78 - 1
8-110437375-C-T c.2759C>T p.S920L Missense 24/78 - 1
8-110437378-A-T c.2762A>T p.K921I Missense 24/78 - 3
8-110437381-T-A c.2765T>A p.I922N Missense 24/78 - 1
8-110437383-C-T c.2767C>T p.H923Y Missense 24/78 - 12
8-110437384-A-G c.2768A>G p.H923R Missense 24/78 - 31
8-110437384-A-T c.2768A>T p.H923L Missense 24/78 - 4
8-110437385-T-C c.2769T>C p.H923= Synonymous 24/78 - 1
8-110437389-C-T c.2773C>T p.Q925* Nonsense 24/78 - 3
8-110437391-A-G c.2775A>G p.Q925= Synonymous 24/78 - 1
8-110437393-G-A c.2777G>A p.R926K Missense 24/78 - 4
8-110437396-T-C c.2780T>C p.I927T Missense 24/78 - 1
8-110437398-C-G c.2782C>G p.Q928E Missense 24/78 - 2
8-110437399-A-T c.2783A>T p.Q928L Missense 24/78 - 1
8-110437401-G-A c.2785G>A p.A929T Missense 24/78 - 2
8-110437403-T-A c.2787T>A p.A929= Synonymous 24/78 - 1
8-110437403-T-C c.2787T>C p.A929= Synonymous 24/78 - 1
8-110437403-T-G c.2787T>G p.A929= Synonymous 24/78 - 1
8-110437410-C-T c.2794C>T p.P932S Missense 24/78 - 1
8-110437411-C-G c.2795C>G p.P932R Missense 24/78 - 1
8-110437412-A-T c.2796A>T p.P932= Synonymous 24/78 - 1
8-110437414-C-A c.2798C>A p.P933H Missense 24/78 - 1
8-110437414-C-T c.2798C>T p.P933L Missense 24/78 - 4
8-110437419-A-G c.2803A>G p.S935G Missense 24/78 - 3
8-110437424-C-A c.2808C>A p.G936= Synonymous 24/78 - 3
8-110437424-C-G c.2808C>G p.G936= Synonymous 24/78 - 3
8-110437424-C-T c.2808C>T p.G936= Synonymous 24/78 - 2
8-110437426-G-A c.2810G>A p.S937N Missense 24/78 - 1
8-110437435-T-G c.2819T>G p.I940S Missense 24/78 - 1
8-110437436-T-G c.2820T>G p.I940M Missense 24/78 - 1
8-110437440-G-A c.2824G>A p.A942T Missense 24/78 - 1
8-110437441-C-T c.2825C>T p.A942V Missense 24/78 - 3
8-110437443-T-C c.2827T>C p.Y943H Missense 24/78 - 4
8-110437443-T-G c.2827T>G p.Y943D Missense 24/78 - 1
8-110437452-A-G c.2836A>G p.I946V Missense 24/78 - 1
8-110437455-C-T c.2839C>T p.L947F Missense 24/78 - 1
8-110437456-T-G c.2840T>G p.L947R Missense 24/78 - 1
8-110437457-T-A c.2841T>A p.L947= Synonymous 24/78 - 2
8-110437457-T-C c.2841T>C p.L947= Synonymous 24/78 - 3
8-110437457-T-G c.2841T>G p.L947= Synonymous 24/78 - 2
8-110437476-T-A c.2845+15T>A - IntronicSNV - 24/77 1
8-110439150-A-G c.2846-81A>G - IntronicSNV - 24/77 1
8-110439166-A-C c.2846-65A>C - IntronicSNV - 24/77 2
8-110439166-A-G c.2846-65A>G - IntronicSNV - 24/77 2
8-110439233-C-T c.2848C>T p.L950F Missense 25/78 - 1
8-110439235-C-T c.2850C>T p.L950= Synonymous 25/78 - 1
8-110439236-C-T c.2851C>T p.P951S Missense 25/78 - 3
8-110439237-C-A c.2852C>A p.P951H Missense 25/78 - 1
8-110439238-C-A c.2853C>A p.P951= Synonymous 25/78 - 1
8-110439238-C-G c.2853C>G p.P951= Synonymous 25/78 - 1
8-110439238-C-T c.2853C>T p.P951= Synonymous 25/78 - 1
8-110439239-G-A c.2854G>A p.A952T Missense 25/78 - 3
8-110439243-C-T c.2858C>T p.A953V Missense 25/78 - 1
8-110439245-G-C c.2860G>C p.V954L Missense 25/78 - 4
8-110439245-G-T c.2860G>T p.V954L Missense 25/78 - 2
8-110439251-G-A c.2866G>A p.A956T Missense 25/78 - 1
8-110439252-C-A c.2867C>A p.A956D Missense 25/78 - 1
8-110439255-C-A c.2870C>A p.A957E Missense 25/78 - 3
8-110439257-G-A c.2872G>A p.D958N Missense 25/78 - 4
8-110439257-G-C c.2872G>C p.D958H Missense 25/78 - 1
8-110439257-G-T c.2872G>T p.D958Y Missense 25/78 - 1
8-110439269-G-A c.2884G>A p.A962T Missense 25/78 - 1
8-110439270-C-T c.2885C>T p.A962V Missense 25/78 - 2
8-110439278-AG-TT c.2893_2894delinsTT p.S965F Missense 25/78 - 1
8-110439283-G-C c.2898G>C p.L966= Synonymous 25/78 - 1
8-110439284-G-T c.2899G>T p.E967* Nonsense 25/78 - 3
8-110439287-G-A c.2902G>A p.G968R Missense 25/78 - 1
8-110439288-G-A c.2903G>A p.G968E Missense 25/78 - 2
8-110439288-G-C c.2903G>C p.G968A Missense 25/78 - 1
8-110439294-G-A c.2909G>A p.G970E Missense 25/78 - 6
8-110439297-G-C c.2912G>C p.R971T Missense 25/78 - 1
8-110439299-A-G c.2914A>G p.I972V Missense 25/78 - 1
8-110439303-C-A c.2918C>A p.S973* Nonsense 25/78 - 1
8-110439305-G-A c.2920G>A p.V974I Missense 25/78 - 1
8-110439305-G-C c.2920G>C p.V974L Missense 25/78 - 2
8-110439309-C-A c.2924C>A p.T975K Missense 25/78 - 1
8-110439311-C-T c.2926C>T p.R976* Nonsense 25/78 - 1
8-110439314-G-A c.2929G>A p.E977K Missense 25/78 - 1
8-110439317-G-A c.2932G>A p.G978R Missense 25/78 - 2
8-110439318-G-A c.2933G>A p.G978E Missense 25/78 - 7
8-110439320-A-G c.2935A>G p.T979A Missense 25/78 - 4
8-110439321-C-T c.2936C>T p.T979I Missense 25/78 - 1
8-110439323-T-A c.2938T>A p.C980S Missense 25/78 - 2
8-110439324-G-A c.2939G>A p.C980Y Missense 25/78 - 1
8-110439324-G-C c.2939G>C p.C980S Missense 25/78 - 3
8-110439325-T-C c.2940T>C p.C980= Synonymous 25/78 - 1
8-110439326-G-T c.2941G>T p.A981S Missense 25/78 - 1
8-110439330-G-T c.2945G>T p.G982V Missense 25/78 - 2
8-110439333-A-G c.2948A>G p.Y983C Missense 25/78 - 1
8-110439335-G-A c.2950G>A p.A984T Missense 25/78 - 1
8-110439335-G-T c.2950G>T p.A984S Missense 25/78 - 1
8-110439336-C-T c.2951C>T p.A984V Missense 25/78 - 1
8-110439344-A-T c.2959A>T p.I987F Missense 25/78 - 1
8-110439345-T-C c.2960T>C p.I987T Missense 25/78 - 1
8-110439346-C-G c.2961C>G p.I987M Missense 25/78 - 1
8-110439349-A-AT c.2965dup p.W989Lfs*14 Frameshift 25/78 - 1
8-110439351-G-A c.2966G>A p.W989* Nonsense 25/78 - 1
8-110439352-G-A c.2967G>A p.W989* Nonsense 25/78 - 1
8-110439353-A-G c.2968A>G p.R990G Missense 25/78 - 1
8-110439354-G-A c.2969G>A p.R990K Missense 25/78 - 1
8-110439358-C-G c.2973C>G p.S991R Missense 25/78 - 1
8-110439360-C-A c.2975C>A p.T992N Missense 25/78 - 1
8-110439362-TG-AC c.2977_2978delinsAC p.C993T Missense 25/78 - 1
8-110439364-C-T c.2979C>T p.C993= Synonymous 25/78 - 1
8-110439365-G-A c.2980G>A p.G994R Missense 25/78 - 3
8-110439365-G-C c.2980G>C p.G994R Missense 25/78 - 1
8-110439366-G-A c.2981G>A p.G994E Missense 25/78 - 1
8-110439372-A-C c.2987A>C p.Q996P Missense 25/78 - 1
8-110439372-A-T c.2987A>T p.Q996L Missense 25/78 - 2
8-110439373-G-A c.2988G>A p.Q996= Synonymous 25/78 - 1
8-110439377-C-T c.2992C>T p.L998F Missense 25/78 - 1
8-110439382-A-T c.2997A>T p.L999= Synonymous 25/78 - 1
8-110439386-G-A c.3000+1G>A - IntronicSNV - 25/77 1
8-110439519-G-C c.3000+134G>C - IntronicSNV - 25/77 7
8-110441569-A-T c.3001A>T p.I1001F Missense 26/78 - 1
8-110441575-G-A c.3007G>A p.D1003N Missense 26/78 - 2
8-110441579-C-T c.3011C>T p.S1004F Missense 26/78 - 2
8-110441578-TC-T c.3012del p.N1005Tfs*9 Frameshift 26/78 - 1
8-110441582-A-G c.3014A>G p.N1005S Missense 26/78 - 2
8-110441588-T-C c.3020T>C p.I1007T Missense 26/78 - 6
8-110441590-G-A c.3022G>A p.G1008R Missense 26/78 - 1
8-110441591-G-A c.3023G>A p.G1008E Missense 26/78 - 2
8-110441591-G-T c.3023G>T p.G1008V Missense 26/78 - 2
8-110441593-G-A c.3025G>A p.E1009K Missense 26/78 - 5
8-110441597-A-G c.3029A>G p.K1010R Missense 26/78 - 2
8-110441597-A-T c.3029A>T p.K1010M Missense 26/78 - 1
8-110441599-G-A c.3031G>A p.A1011T Missense 26/78 - 2
8-110441606-T-A c.3038T>A p.M1013K Missense 26/78 - 2
8-110441618-G-A c.3050G>A p.R1017K Missense 26/78 - 5
8-110441619-G-A c.3051G>A p.R1017= Synonymous 26/78 - 2
8-110441621-TA-AC c.3053_3054delinsAC p.I1018N Missense 26/78 - 1
8-110441622-A-G c.3054A>G p.I1018M Missense 26/78 - 1
8-110441623-A-C c.3055A>C p.K1019Q Missense 26/78 - 1
8-110441623-A-T c.3055A>T p.K1019* Nonsense 26/78 - 1
8-110441625-G-A c.3057G>A p.K1019= Synonymous 26/78 - 2
8-110441625-G-C c.3057G>C p.K1019N Missense 26/78 - 3
8-110441625-G-T c.3057G>T p.K1019N Missense 26/78 - 2
8-110441626-G-A c.3058G>A p.E1020K Missense 26/78 - 1
8-110441629-G-A c.3061G>A p.G1021S Missense 26/78 - 1
8-110441629-G-C c.3061G>C p.G1021R Missense 26/78 - 1
8-110441632-G-A c.3064G>A p.G1022S Missense 26/78 - 4
8-110441632-G-T c.3064G>T p.G1022C Missense 26/78 - 1
8-110441633-G-A c.3065G>A p.G1022D Missense 26/78 - 1
8-110441634-C-A c.3066C>A p.G1022= Synonymous 26/78 - 2
8-110441634-C-G c.3066C>G p.G1022= Synonymous 26/78 - 2
8-110441634-C-T c.3066C>T p.G1022= Synonymous 26/78 - 2
8-110441639-T-G c.3071T>G p.F1024C Missense 26/78 - 3
8-110441640-C-T c.3072C>T p.F1024= Synonymous 26/78 - 1
8-110441641-A-G c.3073A>G p.R1025G Missense 26/78 - 2
8-110441641-AG-CA c.3073_3074delinsCA p.R1025Q Missense 26/78 - 1
8-110441643-A-C c.3075A>C p.R1025S Missense 26/78 - 1
8-110441643-A-T c.3075A>T p.R1025S Missense 26/78 - 1
8-110441644-C-G c.3076C>G p.Q1026E Missense 26/78 - 1
8-110441651-T-C c.3083T>C p.V1028A Missense 26/78 - 1
8-110441657-G-A c.3089G>A p.G1030E Missense 26/78 - 1
8-110441663-T-A c.3095T>A p.L1032Q Missense 26/78 - 4
8-110441662-C-T c.3094C>T p.L1032= Synonymous 26/78 - 1
8-110441664-A-C c.3096A>C p.L1032= Synonymous 26/78 - 1
8-110441664-A-G c.3096A>G p.L1032= Synonymous 26/78 - 1
8-110441664-A-T c.3096A>T p.L1032= Synonymous 26/78 - 1
8-110441668-CG-AT c.3100_3101delinsAT p.R1034I Missense 26/78 - 1
8-110441668-CGT-TGA c.3100_3102delinsTGA p.R1034* Nonsense 26/78 - 1
8-110441668-C-T c.3100C>T p.R1034C Missense 26/78 - 12
8-110441669-G-A c.3101G>A p.R1034H Missense 26/78 - 1
8-110441671-A-T c.3103A>T p.T1035S Missense 26/78 - 1
8-110441674-C-T c.3106C>T p.P1036S Missense 26/78 - 3
8-110441675-C-T c.3107C>T p.P1036L Missense 26/78 - 1
8-110441678-G-A c.3110G>A p.S1037N Missense 26/78 - 1
8-110441678-G-T c.3110G>T p.S1037I Missense 26/78 - 1
8-110441680-C-A c.3112C>A p.Q1038K Missense 26/78 - 1
8-110441681-A-G c.3113A>G p.Q1038R Missense 26/78 - 1
8-110441683-C-T c.3115C>T p.Q1039* Nonsense 26/78 - 3
8-110441685-G-A c.3117G>A p.Q1039= Synonymous 26/78 - 1
8-110441690-A-T c.3122A>T p.Q1041L Missense 26/78 - 1
8-110441691-G-C c.3123G>C p.Q1041H Missense 26/78 - 2
8-110441691-G-T c.3123G>T p.Q1041H Missense 26/78 - 2
8-110441694-A-G c.3123+3A>G - IntronicSNV - 26/77 1
8-110442164-G-A c.3127G>A p.E1043K Missense 27/78 - 1
8-110442175-C-G c.3138C>G p.V1046= Synonymous 27/78 - 1
8-110442177-A-G c.3140A>G p.N1047S Missense 27/78 - 1
8-110442179-G-A c.3142G>A p.G1048R Missense 27/78 - 1
8-110442179-G-C c.3142G>C p.G1048R Missense 27/78 - 1
8-110442179-GG-AA c.3142_3143delinsAA p.G1048K Missense 27/78 - 5
8-110442179-G-T c.3142G>T p.G1048* Nonsense 27/78 - 1
8-110442180-G-A c.3143G>A p.G1048E Missense 27/78 - 5
8-110442186-C-T c.3149C>T p.P1050L Missense 27/78 - 2
8-110442188-G-A c.3151G>A p.A1051T Missense 27/78 - 1
8-110442188-G-T c.3151G>T p.A1051S Missense 27/78 - 1
8-110442198-C-T c.3161C>T p.S1054L Missense 27/78 - 1
8-110442199-A-C c.3162A>C p.S1054= Synonymous 27/78 - 1
8-110442199-A-G c.3162A>G p.S1054= Synonymous 27/78 - 1
8-110442199-A-T c.3162A>T p.S1054= Synonymous 27/78 - 1
8-110442203-G-A c.3166G>A p.D1056N Missense 27/78 - 2
8-110442204-A-T c.3167A>T p.D1056V Missense 27/78 - 1
8-110442206-T-C c.3169T>C p.C1057R Missense 27/78 - 1
8-110442209-G-A c.3172G>A p.G1058R Missense 27/78 - 1
8-110442209-G-C c.3172G>C p.G1058R Missense 27/78 - 1
8-110442209-G-T c.3172G>T p.G1058* Nonsense 27/78 - 1
8-110442219-G-A c.3182G>A p.W1061* Nonsense 27/78 - 1
8-110442220-G-A c.3183G>A p.W1061* Nonsense 27/78 - 2
8-110442224-T-A c.3187T>A p.S1063T Missense 27/78 - 1
8-110442224-T-C c.3187T>C p.S1063P Missense 27/78 - 1
8-110442225-C-T c.3188C>T p.S1063F Missense 27/78 - 1
8-110442226-C-T c.3189C>T p.S1063= Synonymous 27/78 - 1
8-110442232-T-C c.3195T>C p.I1065= Synonymous 27/78 - 1
8-110442234-CT-TG c.3197_3198delinsTG p.T1066M Missense 27/78 - 1
8-110442235-T-A c.3198T>A p.T1066= Synonymous 27/78 - 1
8-110442235-T-C c.3198T>C p.T1066= Synonymous 27/78 - 1
8-110442235-T-G c.3198T>G p.T1066= Synonymous 27/78 - 1
8-110442238-C-A c.3201C>A p.P1067= Synonymous 27/78 - 1
8-110442238-C-G c.3201C>G p.P1067= Synonymous 27/78 - 1
8-110442238-C-T c.3201C>T p.P1067= Synonymous 27/78 - 1
8-110442239-C-G c.3202C>G p.L1068V Missense 27/78 - 2
8-110442242-G-T c.3205G>T p.V1069F Missense 27/78 - 1
8-110442244-C-A c.3207C>A p.V1069= Synonymous 27/78 - 1
8-110442244-C-G c.3207C>G p.V1069= Synonymous 27/78 - 1
8-110442244-C-T c.3207C>T p.V1069= Synonymous 27/78 - 1
8-110442248-G-A c.3211G>A p.A1071T Missense 27/78 - 1
8-110442249-C-G c.3212C>G p.A1071G Missense 27/78 - 1
8-110442249-C-T c.3212C>T p.A1071V Missense 27/78 - 7
8-110442250-G-C c.3213G>C p.A1071= Synonymous 27/78 - 1
8-110442255-G-A c.3218G>A p.S1073N Missense 27/78 - 3
8-110442255-G-T c.3218G>T p.S1073I Missense 27/78 - 1
8-110442256-C-G c.3219C>G p.S1073R Missense 27/78 - 1
8-110442260-T-A c.3223T>A p.S1075T Missense 27/78 - 1
8-110442260-TC-AA c.3223_3224delinsAA p.S1075N Missense 27/78 - 1
8-110442260-T-G c.3223T>G p.S1075A Missense 27/78 - 1
8-110442266-G-A c.3229G>A p.G1077R Missense 27/78 - 1
8-110442383-C-G c.3229+117C>G - IntronicSNV - 27/77 1
8-110442457-G-GA c.3229+200dup - IntronicInsertion - 27/77 1
8-110443197-C-T c.3229+931C>T - IntronicSNV - 27/77 1
8-110443480-T-C c.3229+1214T>C - IntronicSNV - 27/77 1
8-110445335-G-A c.3230G>A p.G1077E Missense 28/78 - 2
8-110445338-C-T c.3233C>T p.S1078F Missense 28/78 - 2
8-110445339-C-A c.3234C>A p.S1078= Synonymous 28/78 - 2
8-110445339-C-G c.3234C>G p.S1078= Synonymous 28/78 - 2
8-110445339-C-T c.3234C>T p.S1078= Synonymous 28/78 - 2
8-110445343-G-A c.3238G>A p.E1080K Missense 28/78 - 4
8-110445344-A-T c.3239A>T p.E1080V Missense 28/78 - 1
8-110445345-A-C c.3240A>C p.E1080D Missense 28/78 - 1
8-110445345-A-T c.3240A>T p.E1080D Missense 28/78 - 1
8-110445346-G-A c.3241G>A p.E1081K Missense 28/78 - 2
8-110445346-G-C c.3241G>C p.E1081Q Missense 28/78 - 1
8-110445346-G-T c.3241G>T p.E1081* Nonsense 28/78 - 1
8-110445349-G-A c.3244G>A p.G1082S Missense 28/78 - 1
8-110445354-A-G c.3249A>G p.T1083= Synonymous 28/78 - 1
8-110445358-C-A c.3253C>A p.L1085I Missense 28/78 - 1
8-110445362-C-A c.3257C>A p.T1086N Missense 28/78 - 3
8-110445367-G-A c.3262G>A p.V1088M Missense 28/78 - 2
8-110445367-G-T c.3262G>T p.V1088L Missense 28/78 - 2
8-110445368-T-G c.3263T>G p.V1088G Missense 28/78 - 2
8-110445374-C-T c.3269C>T p.S1090F Missense 28/78 - 3
8-110445376-G-A c.3271G>A p.G1091R Missense 28/78 - 1
8-110445376-G-C c.3271G>C p.G1091R Missense 28/78 - 1
8-110445377-G-T c.3272G>T p.G1091V Missense 28/78 - 3
8-110445385-C-T c.3280C>T p.P1094S Missense 28/78 - 2
8-110445386-C-G c.3281C>G p.P1094R Missense 28/78 - 1
8-110445389-G-A c.3284G>A p.S1095N Missense 28/78 - 2
8-110445388-A-C c.3283A>C p.S1095R Missense 28/78 - 2
8-110445390-T-A c.3285T>A p.S1095R Missense 28/78 - 2
8-110445390-T-G c.3285T>G p.S1095R Missense 28/78 - 2
8-110445392-C-T c.3287C>T p.S1096L Missense 28/78 - 6
8-110445395-C-T c.3290C>T p.A1097V Missense 28/78 - 1
8-110445406-T-A c.3301T>A p.S1101T Missense 28/78 - 2
8-110445406-T-G c.3301T>G p.S1101A Missense 28/78 - 2
8-110445407-C-T c.3302C>T p.S1101L Missense 28/78 - 1
8-110445409-AG-A c.3304del p.V1102Lfs*4 Frameshift 28/78 - 1
8-110445415-C-G c.3310C>G p.P1104A Missense 28/78 - 1
8-110445415-C-T c.3310C>T p.P1104S Missense 28/78 - 2
8-110445416-C-A c.3311C>A p.P1104Q Missense 28/78 - 1
8-110445416-C-T c.3311C>T p.P1104L Missense 28/78 - 2
8-110445418-G-A c.3313G>A p.V1105I Missense 28/78 - 1
8-110445421-G-C c.3316G>C p.G1106R Missense 28/78 - 1
8-110445424-TG-AT c.3319_3320delinsAT p.C1107I Missense 28/78 - 1
8-110445421-GGTT-G c.3320_3322del p.C1107del InFrameDeletion 28/78 - 1
8-110445425-G-A c.3320G>A p.C1107Y Missense 28/78 - 1
8-110445428-C-A c.3323C>A p.S1108Y Missense 28/78 - 1
8-110445430-C-T c.3325C>T p.L1109F Missense 28/78 - 1
8-110445433-C-T c.3328C>T p.L1110F Missense 28/78 - 3
8-110445441-G-A c.3336G>A p.V1112= Synonymous 28/78 - 1
8-110445442-G-A c.3337G>A p.D1113N Missense 28/78 - 2
8-110445443-A-G c.3338A>G p.D1113G Missense 28/78 - 1
8-110445445-G-A c.3340G>A p.E1114K Missense 28/78 - 2
8-110447423-A-C c.3345A>C p.K1115N Missense 29/78 - 1
8-110447423-A-T c.3345A>T p.K1115N Missense 29/78 - 1
8-110447427-C-A c.3349C>A p.L1117I Missense 29/78 - 1
8-110447428-T-C c.3350T>C p.L1117P Missense 29/78 - 2
8-110447435-C-A c.3357C>A p.C1119* Nonsense 29/78 - 1
8-110447436-C-A c.3358C>A p.Q1120K Missense 29/78 - 1
8-110447437-A-T c.3359A>T p.Q1120L Missense 29/78 - 3
8-110447440-T-C c.3362T>C p.I1121T Missense 29/78 - 3
8-110447439-ATTC-A c.3363_3365del p.I1121_L1122delinsM MultiAAMissense 29/78 - 1
8-110447444-G-A c.3366G>A p.L1122= Synonymous 29/78 - 3
8-110447448-G-A c.3370G>A p.G1124R Missense 29/78 - 1
8-110447448-GG-TT c.3370_3371delinsTT p.G1124L Missense 29/78 - 1
8-110447449-G-A c.3371G>A p.G1124E Missense 29/78 - 1
8-110447451-AG-CT c.3373_3374inv p.S1125L Missense 29/78 - 1
8-110447452-G-C c.3374G>C p.S1125T Missense 29/78 - 1
8-110447454-G-A c.3376G>A p.A1126T Missense 29/78 - 1
8-110447456-TG-T c.3380del p.G1127Dfs*14 Frameshift 29/78 - 1
8-110447458-G-A c.3380G>A p.G1127E Missense 29/78 - 3
8-110447459-A-C c.3381A>C p.G1127= Synonymous 29/78 - 3
8-110447459-A-G c.3381A>G p.G1127= Synonymous 29/78 - 3
8-110447459-A-T c.3381A>T p.G1127= Synonymous 29/78 - 3
8-110447464-C-A c.3386C>A p.A1129D Missense 29/78 - 1
8-110447464-C-T c.3386C>T p.A1129V Missense 29/78 - 1
8-110447466-C-G c.3388C>G p.P1130A Missense 29/78 - 3
8-110447468-C-A c.3390C>A p.P1130= Synonymous 29/78 - 3
8-110447468-C-G c.3390C>G p.P1130= Synonymous 29/78 - 3
8-110447468-C-T c.3390C>T p.P1130= Synonymous 29/78 - 4
8-110447469-G-C c.3391G>C p.V1131L Missense 29/78 - 1
8-110447472-G-A c.3394G>A p.A1132T Missense 29/78 - 1
8-110447472-G-T c.3394G>T p.A1132S Missense 29/78 - 3
8-110447475-G-A c.3397G>A p.V1133M Missense 29/78 - 1
8-110447480-C-T c.3402C>T p.S1134= Synonymous 29/78 - 2
8-110447490-G-T c.3412G>T p.V1138F Missense 29/78 - 1
8-110447494-G-A c.3416G>A p.G1139E Missense 29/78 - 2
8-110447496-C-T c.3418C>T p.L1140= Synonymous 29/78 - 1
8-110447498-A-C c.3420A>C p.L1140= Synonymous 29/78 - 1
8-110447498-A-G c.3420A>G p.L1140= Synonymous 29/78 - 1
8-110447498-A-T c.3420A>T p.L1140= Synonymous 29/78 - 1
8-110447499-G-T c.3421G>T p.A1141S Missense 29/78 - 1
8-110447500-C-G c.3422C>G p.A1141G Missense 29/78 - 1
8-110447500-C-T c.3422C>T p.A1141V Missense 29/78 - 1
8-110447502-C-T c.3424C>T p.Q1142* Nonsense 29/78 - 1
8-110447504-G-A c.3426G>A p.Q1142= Synonymous 29/78 - 2
8-110447504-G-C c.3426G>C p.Q1142H Missense 29/78 - 1
8-110447504-G-T c.3426G>T p.Q1142H Missense 29/78 - 1
8-110447508-G-A c.3430G>A p.V1144I Missense 29/78 - 1
8-110447511-G-T c.3433G>T p.G1145W Missense 29/78 - 2
8-110447512-G-C c.3434G>C p.G1145A Missense 29/78 - 9
8-110447512-GG-AC c.3434_3435delinsAC p.G1145D Missense 29/78 - 1
8-110447514-G-T c.3436G>T p.G1146C Missense 29/78 - 1
8-110447520-G-T c.3442G>T p.E1148* Nonsense 29/78 - 3
8-110447523-T-C c.3445T>C p.F1149L Missense 29/78 - 1
8-110447525-C-A c.3447C>A p.F1149L Missense 29/78 - 1
8-110447525-C-G c.3447C>G p.F1149L Missense 29/78 - 1
8-110447525-C-T c.3447C>T p.F1149= Synonymous 29/78 - 1
8-110447528-C-T c.3450C>T p.Y1150= Synonymous 29/78 - 1
8-110447532-G-A c.3454G>A p.V1152I Missense 29/78 - 1
8-110447538-C-T c.3460C>T p.Q1154* Nonsense 29/78 - 1
8-110447540-G-A c.3462G>A p.Q1154= Synonymous 29/78 - 1
8-110447547-A-G c.3469A>G p.I1157V Missense 29/78 - 1
8-110447551-C-T c.3473C>T p.S1158L Missense 29/78 - 2
8-110447558-C-T c.3480C>T p.I1160= Synonymous 29/78 - 2
8-110447560-G-A c.3482G>A p.W1161* Nonsense 29/78 - 1
8-110447561-G-A c.3483G>A p.W1161* Nonsense 29/78 - 1
8-110447561-G-C c.3483G>C p.W1161C Missense 29/78 - 2
8-110447561-G-T c.3483G>T p.W1161C Missense 29/78 - 1
8-110447563-C-A c.3485C>A p.P1162H Missense 29/78 - 1
8-110447565-G-A c.3487G>A p.D1163N Missense 29/78 - 6
8-110447569-C-A c.3491C>A p.S1164Y Missense 29/78 - 2
8-110447571-G-A c.3493G>A p.G1165R Missense 29/78 - 2
8-110447571-G-C c.3493G>C p.G1165R Missense 29/78 - 4
8-110447572-G-A c.3494G>A p.G1165E Missense 29/78 - 2
8-110447574-A-T c.3496A>T p.S1166C Missense 29/78 - 1
8-110447575-G-A c.3497G>A p.S1166N Missense 29/78 - 2
8-110447582-A-T c.3504A>T p.A1168= Synonymous 29/78 - 1
8-110447583-G-C c.3505G>C p.G1169R Missense 29/78 - 1
8-110447901-T-C c.3505+318T>C - IntronicSNV - 29/77 1
8-110447903-G-A c.3505+320G>A - IntronicSNV - 29/77 1
8-110447914-C-G c.3505+331C>G - IntronicSNV - 29/77 1
8-110448567-G-T c.3506G>T p.G1169V Missense 30/78 - 1
8-110448573-C-A c.3512C>A p.T1171N Missense 30/78 - 1
8-110448575-C-G c.3514C>G p.L1172V Missense 30/78 - 3
8-110448577-A-C c.3516A>C p.L1172= Synonymous 30/78 - 1
8-110448582-C-T c.3521C>T p.T1174I Missense 30/78 - 4
8-110448585-T-C c.3524T>C p.L1175S Missense 30/78 - 2
8-110448591-G-A c.3530G>A p.G1177E Missense 30/78 - 2
8-110448591-G-T c.3530G>T p.G1177V Missense 30/78 - 1
8-110448593-T-G c.3532T>G p.F1178V Missense 30/78 - 1
8-110448597-G-C c.3536G>C p.G1179A Missense 30/78 - 1
8-110448602-A-G c.3541A>G p.N1181D Missense 30/78 - 1
8-110448605-G-A c.3544G>A p.E1182K Missense 30/78 - 2
8-110448611-T-C c.3550T>C p.S1184P Missense 30/78 - 1
8-110448612-C-T c.3551C>T p.S1184L Missense 30/78 - 7
8-110448616-G-C c.3555G>C p.K1185N Missense 30/78 - 1
8-110448616-G-T c.3555G>T p.K1185N Missense 30/78 - 1
8-110448617-G-A c.3556G>A p.V1186I Missense 30/78 - 2
8-110448617-G-C c.3556G>C p.V1186L Missense 30/78 - 1
8-110448623-G-T c.3562G>T p.V1188F Missense 30/78 - 2
8-110448627-G-A c.3566G>A p.G1189E Missense 30/78 - 1
8-110448632-G-A c.3571G>A p.E1191K Missense 30/78 - 8
8-110448632-G-T c.3571G>T p.E1191* Nonsense 30/78 - 3
8-110448633-A-G c.3572A>G p.E1191G Missense 30/78 - 1
8-110448635-A-G c.3574A>G p.T1192A Missense 30/78 - 23
8-110448637-C-A c.3576C>A p.T1192= Synonymous 30/78 - 2
8-110448637-C-G c.3576C>G p.T1192= Synonymous 30/78 - 2
8-110448637-C-T c.3576C>T p.T1192= Synonymous 30/78 - 2
8-110448638-T-A c.3577T>A p.C1193S Missense 30/78 - 1
8-110448641-A-G c.3580A>G p.N1194D Missense 30/78 - 1
8-110448644-G-A c.3583G>A p.V1195M Missense 30/78 - 1
8-110448646-G-A c.3585G>A p.V1195= Synonymous 30/78 - 1
8-110448646-G-GA c.3586dup p.I1196Nfs*2 Frameshift 30/78 - 1
8-110448647-A-G c.3586A>G p.I1196V Missense 30/78 - 1
8-110448647-A-T c.3586A>T p.I1196F Missense 30/78 - 1
8-110448648-T-G c.3587T>G p.I1196S Missense 30/78 - 1
8-110448649-T-A c.3588T>A p.I1196= Synonymous 30/78 - 1
8-110448649-T-C c.3588T>C p.I1196= Synonymous 30/78 - 1
8-110448650-G-T c.3589G>T p.E1197* Nonsense 30/78 - 1
8-110448654-G-A c.3593G>A p.G1198E Missense 30/78 - 2
8-110448655-G-A c.3594G>A p.G1198= Synonymous 30/78 - 2
8-110448656-G-A c.3595G>A p.D1199N Missense 30/78 - 4
8-110448659-T-C c.3598T>C p.L1200= Synonymous 30/78 - 1
8-110448659-TT-CC c.3598_3599delinsCC p.L1200P Missense 30/78 - 1
8-110448661-G-A c.3600G>A p.L1200= Synonymous 30/78 - 2
8-110448665-A-G c.3604A>G p.R1202G Missense 30/78 - 1
8-110448667-G-A c.3606G>A p.R1202= Synonymous 30/78 - 1
8-110448672-C-G c.3611C>G p.T1204S Missense 30/78 - 1
8-110448674-T-C c.3613T>C p.C1205R Missense 30/78 - 1
8-110448674-TG-AC c.3613_3614delinsAC p.C1205T Missense 30/78 - 1
8-110448677-AGG-CAT c.3616_3618delinsCAT p.R1206H Missense 30/78 - 1
8-110448678-G-A c.3617G>A p.R1206K Missense 30/78 - 1
8-110448677-A-C c.3616A>C p.R1206= Synonymous 30/78 - 1
8-110448679-G-A c.3618G>A p.R1206= Synonymous 30/78 - 1
8-110448681-C-T c.3620C>T p.T1207I Missense 30/78 - 1
8-110448683-C-T c.3622C>T p.P1208S Missense 30/78 - 3
8-110448688-A-G c.3627A>G p.K1209= Synonymous 30/78 - 1
8-110448690-T-C c.3627+2T>C - IntronicSNV - 30/77 1
8-110448695-C-T c.3627+7C>T - IntronicSNV - 30/77 1
8-110448756-A-C c.3627+68A>C - IntronicSNV - 30/77 1
8-110448831-T-C c.3627+143T>C - IntronicSNV - 30/77 1
8-110448831-T-G c.3627+143T>G - IntronicSNV - 30/77 1
8-110450555-A-C c.3630A>C p.K1210N Missense 31/78 - 1
8-110450555-A-T c.3630A>T p.K1210N Missense 31/78 - 1
8-110450559-G-A c.3634G>A p.E1212K Missense 31/78 - 1
8-110450559-G-T c.3634G>T p.E1212* Nonsense 31/78 - 1
8-110450562-G-A c.3637G>A p.G1213S Missense 31/78 - 2
8-110450563-G-T c.3638G>T p.G1213V Missense 31/78 - 1
8-110450563-GT-AG c.3638_3639delinsAG p.G1213E Missense 31/78 - 1
8-110450565-A-G c.3640A>G p.T1214A Missense 31/78 - 3
8-110450574-A-T c.3649A>T p.I1217F Missense 31/78 - 1
8-110450592-G-A c.3667G>A p.G1223R Missense 31/78 - 1
8-110450593-G-T c.3668G>T p.G1223V Missense 31/78 - 9
8-110450594-A-T c.3669A>T p.G1223= Synonymous 31/78 - 1
8-110450598-C-A c.3673C>A p.Q1225K Missense 31/78 - 1
8-110450598-C-T c.3673C>T p.Q1225* Nonsense 31/78 - 3
8-110450602-C-A c.3677C>A p.A1226D Missense 31/78 - 2
8-110450602-CC-AG c.3677_3678delinsAG p.A1226E Missense 31/78 - 2
8-110450603-C-A c.3678C>A p.A1226= Synonymous 31/78 - 1
8-110450604-A-C c.3679A>C p.T1227P Missense 31/78 - 1
8-110450604-A-T c.3679A>T p.T1227S Missense 31/78 - 1
8-110450608-C-G c.3683C>G p.A1228G Missense 31/78 - 1
8-110450610-A-G c.3685A>G p.R1229G Missense 31/78 - 1
8-110450610-AG-CT c.3685_3686inv p.R1229L Missense 31/78 - 1
8-110450611-G-A c.3686G>A p.R1229K Missense 31/78 - 1
8-110450613-G-A c.3688G>A p.D1230N Missense 31/78 - 1
8-110450616-G-A c.3691G>A p.A1231T Missense 31/78 - 1
8-110450617-C-T c.3692C>T p.A1231V Missense 31/78 - 2
8-110450618-T-A c.3693T>A p.A1231= Synonymous 31/78 - 1
8-110450618-T-C c.3693T>C p.A1231= Synonymous 31/78 - 1
8-110450618-T-G c.3693T>G p.A1231= Synonymous 31/78 - 1
8-110450627-T-A c.3702T>A p.Y1234* Nonsense 31/78 - 3
8-110450627-T-C c.3702T>C p.Y1234= Synonymous 31/78 - 1
8-110450627-T-G c.3702T>G p.Y1234* Nonsense 31/78 - 2
8-110450632-G-C c.3707G>C p.C1236S Missense 31/78 - 1
8-110450642-A-G c.3717A>G p.T1239= Synonymous 31/78 - 1
8-110450644-C-T c.3719C>T p.P1240L Missense 31/78 - 1
8-110450645-A-G c.3720A>G p.P1240= Synonymous 31/78 - 1
8-110450649-A-C c.3724A>C p.I1242L Missense 31/78 - 1
8-110450649-A-T c.3724A>T p.I1242L Missense 31/78 - 1
8-110450655-G-A c.3730G>A p.D1244N Missense 31/78 - 1
8-110450662-G-A c.3737G>A p.S1246N Missense 31/78 - 1
8-110450663-T-G c.3738T>G p.S1246R Missense 31/78 - 1
8-110450666-A-T c.3741A>T p.P1247= Synonymous 31/78 - 1
8-110450667-A-T c.3742A>T p.K1248* Nonsense 31/78 - 1
8-110450673-C-T c.3748C>T p.R1250* Nonsense 31/78 - 1
8-110450674-G-A c.3749G>A p.R1250Q Missense 31/78 - 3
8-110450678-A-C c.3753A>C p.T1251= Synonymous 31/78 - 1
8-110450678-A-G c.3753A>G p.T1251= Synonymous 31/78 - 1
8-110450678-A-T c.3753A>T p.T1251= Synonymous 31/78 - 1
8-110450682-C-T c.3757C>T p.L1253= Synonymous 31/78 - 1
8-110451126-G-A c.3761G>A p.G1254E Missense 32/78 - 1
8-110451129-A-G c.3764A>G p.E1255G Missense 32/78 - 2
8-110451131-G-A c.3766G>A p.V1256I Missense 32/78 - 1
8-110451140-A-C c.3775A>C p.T1259P Missense 32/78 - 1
8-110451142-A-C c.3777A>C p.T1259= Synonymous 32/78 - 1
8-110451142-A-G c.3777A>G p.T1259= Synonymous 32/78 - 1
8-110451142-A-T c.3777A>T p.T1259= Synonymous 32/78 - 1
8-110451148-G-A c.3783G>A p.K1261= Synonymous 32/78 - 2
8-110451150-G-T c.3785G>T p.G1262V Missense 32/78 - 1
8-110451161-G-A c.3796G>A p.G1266R Missense 32/78 - 5
8-110451161-G-C c.3796G>C p.G1266R Missense 32/78 - 4
8-110451161-G-T c.3796G>T p.G1266* Nonsense 32/78 - 1
8-110451162-G-A c.3797G>A p.G1266E Missense 32/78 - 2
8-110451163-A-C c.3798A>C p.G1266= Synonymous 32/78 - 1
8-110451167-G-A c.3802G>A p.E1268K Missense 32/78 - 3
8-110451167-G-T c.3802G>T p.E1268* Nonsense 32/78 - 1
8-110451170-C-G c.3805C>G p.L1269V Missense 32/78 - 1
8-110451174-C-G c.3809C>G p.T1270R Missense 32/78 - 5
8-110451180-A-C c.3815A>C p.N1272T Missense 32/78 - 1
8-110451183-T-C c.3818T>C p.M1273T Missense 32/78 - 3
8-110451185-G-A c.3820G>A p.A1274T Missense 32/78 - 1
8-110451186-C-T c.3821C>T p.A1274V Missense 32/78 - 4
8-110451187-G-A c.3822G>A p.A1274= Synonymous 32/78 - 4
8-110451187-G-C c.3822G>C p.A1274= Synonymous 32/78 - 2
8-110451187-G-T c.3822G>T p.A1274= Synonymous 32/78 - 2
8-110451188-G-A c.3823G>A p.V1275M Missense 32/78 - 3
8-110451189-T-C c.3824T>C p.V1275A Missense 32/78 - 2
8-110451189-T-G c.3824T>G p.V1275G Missense 32/78 - 2
8-110451191-T-A c.3826T>A p.Y1276N Missense 32/78 - 1
8-110451191-T-TA c.3827dup p.Y1276* Nonsense 32/78 - 1
8-110451192-A-T c.3827A>T p.Y1276F Missense 32/78 - 1
8-110451194-G-A c.3829G>A p.V1277I Missense 32/78 - 1
8-110451194-GTT-ATG c.3829_3831delinsATG p.V1277M Missense 32/78 - 1
8-110451196-T-A c.3831T>A p.V1277= Synonymous 32/78 - 1
8-110451198-G-A c.3833G>A p.G1278E Missense 32/78 - 3
8-110451199-A-C c.3834A>C p.G1278= Synonymous 32/78 - 1
8-110451199-A-G c.3834A>G p.G1278= Synonymous 32/78 - 2
8-110451199-A-T c.3834A>T p.G1278= Synonymous 32/78 - 1
8-110451200-G-A c.3835G>A p.G1279R Missense 32/78 - 2
8-110451200-G-T c.3835G>T p.G1279* Nonsense 32/78 - 1
8-110451201-G-A c.3836G>A p.G1279E Missense 32/78 - 9
8-110451201-GA-G c.3841del p.T1281Pfs*28 Frameshift 32/78 - 1
8-110451207-C-A c.3842C>A p.T1281N Missense 32/78 - 1
8-110451210-G-A c.3845G>A p.C1282Y Missense 32/78 - 1
8-110451213-A-G c.3848A>G p.Q1283R Missense 32/78 - 1
8-110451214-G-T c.3849G>T p.Q1283H Missense 32/78 - 3
8-110451216-T-A c.3851T>A p.I1284N Missense 32/78 - 2
8-110451218-C-A c.3853C>A p.L1285I Missense 32/78 - 1
8-110451218-C-T c.3853C>T p.L1285F Missense 32/78 - 2
8-110451219-T-G c.3854T>G p.L1285R Missense 32/78 - 3
8-110451220-T-A c.3855T>A p.L1285= Synonymous 32/78 - 1
8-110451220-T-C c.3855T>C p.L1285= Synonymous 32/78 - 1
8-110451220-T-G c.3855T>G p.L1285= Synonymous 32/78 - 1
8-110451221-C-G c.3856C>G p.H1286D Missense 32/78 - 1
8-110451221-C-T c.3856C>T p.H1286Y Missense 32/78 - 2
8-110451230-T-C c.3865T>C p.F1289L Missense 32/78 - 1
8-110451232-C-A c.3867C>A p.F1289L Missense 32/78 - 1
8-110451232-C-G c.3867C>G p.F1289L Missense 32/78 - 1
8-110451234-CA-TG c.3869_3870inv p.T1290M Missense 32/78 - 2
8-110451240-T-A c.3875T>A p.I1292N Missense 32/78 - 1
8-110451243-G-C c.3878G>C p.R1293T Missense 32/78 - 1
8-110451245-T-G c.3880T>G p.C1294G Missense 32/78 - 1
8-110451246-G-A c.3881G>A p.C1294Y Missense 32/78 - 1
8-110451246-G-T c.3881G>T p.C1294F Missense 32/78 - 2
8-110451247-C-G c.3882C>G p.C1294W Missense 32/78 - 1
8-110451248-C-A c.3883C>A p.L1295I Missense 32/78 - 4
8-110451254-C-T c.3889C>T p.P1297S Missense 32/78 - 2
8-110451259-G-A c.3894G>A p.K1298= Synonymous 32/78 - 1
8-110451259-G-C c.3894G>C p.K1298N Missense 32/78 - 1
8-110451260-T-C c.3895T>C p.L1299= Synonymous 32/78 - 1
8-110451262-G-A c.3897G>A p.L1299= Synonymous 32/78 - 1
8-110451263-T-C c.3898T>C p.S1300P Missense 32/78 - 3
8-110451266-C-A c.3901C>A p.P1301T Missense 32/78 - 2
8-110451266-C-T c.3901C>T p.P1301S Missense 32/78 - 1
8-110451269-G-A c.3904G>A p.G1302R Missense 32/78 - 1
8-110451269-TGGAAAAC-T c.3904_3910del p.G1302Mfs*5 Frameshift 32/78 - 1
8-110451277-T-A c.3912T>A p.H1304Q Missense 32/78 - 1
8-110451278-G-A c.3913G>A p.D1305N Missense 32/78 - 7
8-110451278-G-T c.3913G>T p.D1305Y Missense 32/78 - 1
8-110451279-A-T c.3914A>T p.D1305V Missense 32/78 - 1
8-110451283-C-T c.3918C>T p.I1306= Synonymous 32/78 - 3
8-110451285-A-T c.3920A>T p.Y1307F Missense 32/78 - 1
8-110451287-G-C c.3922G>C p.V1308L Missense 32/78 - 1
8-110451287-G-T c.3922G>T p.V1308L Missense 32/78 - 1
8-110451290-G-A c.3925G>A p.E1309K Missense 32/78 - 3
8-110451293-G-A c.3928G>A p.V1310I Missense 32/78 - 1
8-110451296-A-T c.3931A>T p.R1311* Nonsense 32/78 - 1
8-110451297-G-A c.3932G>A p.R1311K Missense 32/78 - 1
8-110451298-A-C c.3933A>C p.R1311S Missense 32/78 - 1
8-110451298-A-T c.3933A>T p.R1311S Missense 32/78 - 1
8-110451303-G-A c.3938G>A p.W1313* Nonsense 32/78 - 1
8-110451304-G-A c.3939G>A p.W1313* Nonsense 32/78 - 2
8-110451306-G-T c.3941G>T p.G1314V Missense 32/78 - 2
8-110451315-C-T c.3950C>T p.S1317L Missense 32/78 - 3
8-110451317-ACA-TGT c.3952_3954inv p.T1318C Missense 32/78 - 1
8-110451319-A-G c.3954A>G p.T1318= Synonymous 32/78 - 1
8-110451320-A-G c.3955A>G p.R1319G Missense 32/78 - 1
8-110451322-G-T c.3956+1G>T - IntronicSNV - 32/77 1
8-110452940-G-T c.3958G>T p.D1320Y Missense 33/78 - 2
8-110452941-A-C c.3959A>C p.D1320A Missense 33/78 - 1
8-110452944-A-G c.3962A>G p.K1321R Missense 33/78 - 1
8-110452950-A-G c.3968A>G p.N1323S Missense 33/78 - 1
8-110452953-C-A c.3971C>A p.S1324Y Missense 33/78 - 8
8-110452955-T-C c.3973T>C p.S1325P Missense 33/78 - 1
8-110452956-C-A c.3974C>A p.S1325* Nonsense 33/78 - 1
8-110452956-C-G c.3974C>G p.S1325* Nonsense 33/78 - 1
8-110452966-T-C c.3984T>C p.Y1328= Synonymous 33/78 - 1
8-110452969-T-A c.3987T>A p.V1329= Synonymous 33/78 - 1
8-110452971-T-C c.3989T>C p.L1330S Missense 33/78 - 1
8-110452973-G-A c.3991G>A p.E1331K Missense 33/78 - 2
8-110452982-AG-TT c.4000_4001delinsTT p.S1334F Missense 33/78 - 1
8-110452988-T-C c.4006T>C p.F1336L Missense 33/78 - 1
8-110452991-C-T c.4009C>T p.P1337S Missense 33/78 - 4
8-110452992-C-T c.4010C>T p.P1337L Missense 33/78 - 1
8-110452997-A-T c.4015A>T p.R1339* Nonsense 33/78 - 1
8-110453000-G-T c.4018G>T p.G1340C Missense 33/78 - 2
8-110453001-G-A c.4019G>A p.G1340D Missense 33/78 - 1
8-110453001-GC-AG c.4019_4020delinsAG p.G1340E Missense 33/78 - 1
8-110453004-C-A c.4022C>A p.S1341Y Missense 33/78 - 1
8-110453004-C-T c.4022C>T p.S1341F Missense 33/78 - 5
8-110453009-T-A c.4027T>A p.F1343I Missense 33/78 - 1
8-110453008-GT-G c.4029del p.F1343Lfs*8 Frameshift 33/78 - 1
8-110453019-C-A c.4037C>A p.T1346N Missense 33/78 - 1
8-110453021-G-A c.4039G>A p.E1347K Missense 33/78 - 1
8-110453024-A-G c.4042A>G p.I1348V Missense 33/78 - 2
8-110453024-A-T c.4042A>T p.I1348F Missense 33/78 - 1
8-110453026-C-T c.4044C>T p.I1348= Synonymous 33/78 - 1
8-110453028-C-A c.4046C>A p.T1349N Missense 33/78 - 8
8-110453028-C-T c.4046C>T p.T1349I Missense 33/78 - 1
8-110453035-G-A c.4053G>A p.R1351= Synonymous 33/78 - 2
8-110453038-T-A c.4056T>A p.G1352= Synonymous 33/78 - 1
8-110453038-T-C c.4056T>C p.G1352= Synonymous 33/78 - 2
8-110453038-T-G c.4056T>G p.G1352= Synonymous 33/78 - 1
8-110453037-GT-G c.4059del p.F1353Lfs*14 Frameshift 33/78 - 2
8-110453043-G-C c.4061G>C p.G1354A Missense 33/78 - 4
8-110453047-C-A c.4065C>A p.F1355L Missense 33/78 - 1
8-110453047-C-T c.4065C>T p.F1355= Synonymous 33/78 - 2
8-110453049-G-A c.4067G>A p.S1356N Missense 33/78 - 2
8-110453063-G-A c.4081G>A p.E1361K Missense 33/78 - 2
8-110453066-A-C c.4084A>C p.N1362H Missense 33/78 - 2
8-110453074-G-A c.4092G>A p.V1364= Synonymous 33/78 - 1
8-110453074-G-C c.4092G>C p.V1364= Synonymous 33/78 - 1
8-110453074-G-T c.4092G>T p.V1364= Synonymous 33/78 - 1
8-110453075-C-T c.4093C>T p.L1365= Synonymous 33/78 - 1
8-110453078-T-C c.4096T>C p.L1366= Synonymous 33/78 - 1
8-110453080-A-G c.4098A>G p.L1366= Synonymous 33/78 - 1
8-110453454-T-A c.4100-50T>A - IntronicSNV - 33/77 1
8-110453504-G-C c.4100G>C p.G1367A Missense 34/78 - 1
8-110453507-C-T c.4103C>T p.S1368F Missense 34/78 - 3
8-110453508-C-T c.4104C>T p.S1368= Synonymous 34/78 - 2
8-110453513-C-A c.4109C>A p.P1370H Missense 34/78 - 3
8-110453520-T-C c.4116T>C p.N1372= Synonymous 34/78 - 1
8-110453521-G-A c.4117G>A p.V1373I Missense 34/78 - 1
8-110453524-A-G c.4120A>G p.T1374A Missense 34/78 - 1
8-110453529-A-C c.4125A>C p.S1375= Synonymous 34/78 - 1
8-110453529-A-G c.4125A>G p.S1375= Synonymous 34/78 - 1
8-110453529-A-T c.4125A>T p.S1375= Synonymous 34/78 - 1
8-110453533-T-C c.4129T>C p.S1377P Missense 34/78 - 1
8-110453534-C-T c.4130C>T p.S1377L Missense 34/78 - 2
8-110453536-G-A c.4132G>A p.E1378K Missense 34/78 - 3
8-110453549-A-C c.4145A>C p.K1382T Missense 34/78 - 2
8-110453549-A-G c.4145A>G p.K1382R Missense 34/78 - 1
8-110453552-G-A c.4148G>A p.C1383Y Missense 34/78 - 2
8-110453555-T-A c.4151T>A p.I1384N Missense 34/78 - 1
8-110453560-C-T c.4156C>T p.H1386Y Missense 34/78 - 2
8-110453570-G-T c.4166G>T p.G1389V Missense 34/78 - 1
8-110453568-TG-T c.4167del p.N1390Ifs*16 Frameshift 34/78 - 1
8-110453571-G-A c.4167G>A p.G1389= Synonymous 34/78 - 2
8-110453577-A-C c.4173A>C p.I1391= Synonymous 34/78 - 1
8-110453577-A-T c.4173A>T p.I1391= Synonymous 34/78 - 1
8-110453578-T-C c.4174T>C p.F1392L Missense 34/78 - 1
8-110453580-C-A c.4176C>A p.F1392L Missense 34/78 - 1
8-110453580-C-G c.4176C>G p.F1392L Missense 34/78 - 1
8-110453581-A-T c.4177A>T p.R1393W Missense 34/78 - 1
8-110453583-G-A c.4179G>A p.R1393= Synonymous 34/78 - 1
8-110453583-G-C c.4179G>C p.R1393S Missense 34/78 - 1
8-110453583-G-T c.4179G>T p.R1393S Missense 34/78 - 1
8-110453588-C-T c.4184C>T p.T1395I Missense 34/78 - 1
8-110453592-C-T c.4188C>T p.N1396= Synonymous 34/78 - 1
8-110453596-G-A c.4192G>A p.G1398R Missense 34/78 - 1
8-110453596-G-T c.4192G>T p.G1398W Missense 34/78 - 1
8-110453595-TG-T c.4194del p.D1400Ifs*6 Frameshift 34/78 - 1
8-110453598-G-A c.4194G>A p.G1398= Synonymous 34/78 - 3
8-110453601-A-AT c.4197_4198insT p.D1400* Nonsense 34/78 - 1
8-110453601-A-T c.4197A>T p.K1399N Missense 34/78 - 2
8-110453602-AG-A c.4198del p.D1400Ifs*6 Frameshift 34/78 - 1
8-110453602-G-A c.4198G>A p.D1400N Missense 34/78 - 4
8-110453605-TCA-AAC c.4201_4203delinsAAC p.S1401N Missense 34/78 - 1
8-110453608-G-A c.4204G>A p.V1402I Missense 34/78 - 4
8-110454238-C-T c.4207C>T p.H1403Y Missense 35/78 - 3
8-110454244-T-A c.4213T>A p.L1405I Missense 35/78 - 1
8-110454247-G-A c.4216G>A p.G1406S Missense 35/78 - 3
8-110454247-G-C c.4216G>C p.G1406R Missense 35/78 - 1
8-110454248-G-A c.4217G>A p.G1406D Missense 35/78 - 2
8-110454252-T-C c.4221T>C p.Y1407= Synonymous 35/78 - 1
8-110454262-C-T c.4231C>T p.P1411S Missense 35/78 - 4
8-110454270-C-T c.4239C>T p.V1413= Synonymous 35/78 - 1
8-110454274-A-C c.4243A>C p.N1415H Missense 35/78 - 1
8-110454275-A-C c.4244A>C p.N1415T Missense 35/78 - 1
8-110454275-A-G c.4244A>G p.N1415S Missense 35/78 - 2
8-110454277-G-T c.4246G>T p.V1416L Missense 35/78 - 1
8-110454281-C-A c.4250C>A p.S1417Y Missense 35/78 - 3
8-110454283-G-A c.4252G>A p.V1418M Missense 35/78 - 2
8-110454286-G-A c.4255G>A p.G1419R Missense 35/78 - 1
8-110454287-G-A c.4256G>A p.G1419E Missense 35/78 - 2
8-110454288-G-A c.4257G>A p.G1419= Synonymous 35/78 - 2
8-110454284-TG-T c.4258del p.D1420Tfs*16 Frameshift 35/78 - 1
8-110454292-A-G c.4261A>G p.T1421A Missense 35/78 - 1
8-110454293-C-A c.4262C>A p.T1421K Missense 35/78 - 4
8-110454295-G-C c.4264G>C p.V1422L Missense 35/78 - 1
8-110454296-T-C c.4265T>C p.V1422A Missense 35/78 - 1
8-110454302-G-T c.4271G>T p.W1424L Missense 35/78 - 1
8-110454308-G-A c.4277G>A p.W1426* Nonsense 35/78 - 1
8-110454308-G-T c.4277G>T p.W1426L Missense 35/78 - 1
8-110454309-G-A c.4278G>A p.W1426* Nonsense 35/78 - 1
8-110454310-C-T c.4279C>T p.Q1427* Nonsense 35/78 - 2
8-110454311-A-T c.4280A>T p.Q1427L Missense 35/78 - 1
8-110454314-C-T c.4283C>T p.T1428I Missense 35/78 - 2
8-110454319-C-T c.4288C>T p.P1430S Missense 35/78 - 1
8-110454320-C-A c.4289C>A p.P1430Q Missense 35/78 - 1
8-110454320-C-T c.4289C>T p.P1430L Missense 35/78 - 5
8-110454321-G-A c.4290G>A p.P1430= Synonymous 35/78 - 1
8-110454321-G-C c.4290G>C p.P1430= Synonymous 35/78 - 1
8-110454321-G-T c.4290G>T p.P1430= Synonymous 35/78 - 1
8-110454325-C-A c.4294C>A p.L1432I Missense 35/78 - 1
8-110454328-AGA-CAT c.4297_4299delinsCAT p.R1433H Missense 35/78 - 1
8-110454329-G-A c.4298G>A p.R1433K Missense 35/78 - 3
8-110454329-G-C c.4298G>C p.R1433T Missense 35/78 - 1
8-110454331-G-A c.4300G>A p.G1434R Missense 35/78 - 4
8-110454332-G-A c.4301G>A p.G1434E Missense 35/78 - 5
8-110454332-G-T c.4301G>T p.G1434V Missense 35/78 - 3
8-110454333-G-A c.4302G>A p.G1434= Synonymous 35/78 - 1
8-110454335-T-C c.4304T>C p.I1435T Missense 35/78 - 1
8-110454337-G-A c.4306G>A p.G1436R Missense 35/78 - 6
8-110454337-G-C c.4306G>C p.G1436R Missense 35/78 - 3
8-110454338-G-A c.4307G>A p.G1436E Missense 35/78 - 6
8-110454342-T-C c.4311T>C p.Y1437= Synonymous 35/78 - 3
8-110454348-T-C c.4317T>C p.I1439= Synonymous 35/78 - 1
8-110454349-T-C c.4318T>C p.F1440L Missense 35/78 - 5
8-110454351-T-A c.4320T>A p.F1440L Missense 35/78 - 1
8-110454351-T-G c.4320T>G p.F1440L Missense 35/78 - 1
8-110454350-T-G c.4319T>G p.F1440C Missense 35/78 - 1
8-110454359-C-T c.4328C>T p.S1443F Missense 35/78 - 2
8-110454361-A-G c.4330A>G p.S1444G Missense 35/78 - 1
8-110454361-AGT-TGA c.4330_4332delinsTGA p.S1444* Nonsense 35/78 - 1
8-110454362-G-A c.4331G>A p.S1444N Missense 35/78 - 1
8-110454364-C-A c.4333C>A p.P1445T Missense 35/78 - 1
8-110454364-C-G c.4333C>G p.P1445A Missense 35/78 - 1
8-110454365-C-T c.4334C>T p.P1445L Missense 35/78 - 4
8-110454368-G-T c.4337G>T p.G1446V Missense 35/78 - 1
8-110454374-T-C c.4343T>C p.V1448A Missense 35/78 - 1
8-110454380-A-G c.4349A>G p.Y1450C Missense 35/78 - 1
8-110454380-A-T c.4349A>T p.Y1450F Missense 35/78 - 2
8-110454382-G-A c.4351G>A p.D1451N Missense 35/78 - 1
8-110454384-T-A c.4353T>A p.D1451E Missense 35/78 - 1
8-110454384-T-G c.4353T>G p.D1451E Missense 35/78 - 1
8-110454385-G-T c.4354G>T p.G1452C Missense 35/78 - 2
8-110454386-G-C c.4355G>C p.G1452A Missense 35/78 - 1
8-110454391-G-A c.4360G>A p.G1454R Missense 35/78 - 4
8-110454401-G-A c.4370G>A p.S1457N Missense 35/78 - 1
8-110454401-G-T c.4370G>T p.S1457I Missense 35/78 - 1
8-110454402-T-C c.4371T>C p.S1457= Synonymous 35/78 - 1
8-110454403-G-A c.4372G>A p.G1458R Missense 35/78 - 2
8-110454403-G-C c.4372G>C p.G1458R Missense 35/78 - 1
8-110454404-G-A c.4373G>A p.G1458E Missense 35/78 - 6
8-110454418-A-T c.4387A>T p.T1463S Missense 35/78 - 5
8-110454419-C-A c.4388C>A p.T1463K Missense 35/78 - 2
8-110455152-C-A c.4394-23C>A - IntronicSNV - 35/77 1
8-110455152-C-G c.4394-23C>G - IntronicSNV - 35/77 1
8-110455152-C-T c.4394-23C>T - IntronicSNV - 35/77 1
8-110455173-A-AG c.4394dup p.S1466Ffs*15 SpliceAcceptorInsertion 36/78 - 1
8-110455175-G-GGTTA c.4394_4395insGTTA p.S1466Lfs*16 SpliceAcceptorInsertion 36/78 - 1
8-110455175-GT-AG c.4394_4395delinsAG p.G1465E Missense 36/78 - 1
8-110455176-T-A c.4395T>A p.G1465= Synonymous 36/78 - 2
8-110455176-T-C c.4395T>C p.G1465= Synonymous 36/78 - 2
8-110455176-T-G c.4395T>G p.G1465= Synonymous 36/78 - 6
8-110455176-T-TA c.4395_4396insA p.S1466Ifs*15 SpliceAcceptorInsertion 36/78 - 1
8-110455176-T-TC c.4395_4396insC p.S1466Lfs*15 SpliceAcceptorInsertion 36/78 - 1
8-110455176-T-TG c.4395_4396insG p.S1466Vfs*15 SpliceAcceptorInsertion 36/78 - 1
8-110455175-G-GT c.4396dup p.S1466Ffs*15 Frameshift 36/78 - 1
8-110455177-T-TA c.4396_4397insA p.S1466Yfs*15 Frameshift 36/78 - 1
8-110455178-C-T c.4397C>T p.S1466L Missense 36/78 - 3
8-110455181-T-A c.4400T>A p.F1467Y Missense 36/78 - 3
8-110455182-T-G c.4401T>G p.F1467L Missense 36/78 - 2
8-110455184-C-A c.4403C>A p.S1468Y Missense 36/78 - 1
8-110455184-C-T c.4403C>T p.S1468F Missense 36/78 - 9
8-110455184-CT-AA c.4403_4404delinsAA p.S1468* Nonsense 36/78 - 1
8-110455187-A-T c.4406A>T p.Y1469F Missense 36/78 - 2
8-110455190-A-G c.4409A>G p.Q1470R Missense 36/78 - 1
8-110455199-C-A c.4418C>A p.S1473Y Missense 36/78 - 1
8-110455201-C-A c.4420C>A p.P1474T Missense 36/78 - 1
8-110455204-G-T c.4423G>T p.G1475* Nonsense 36/78 - 1
8-110455205-G-A c.4424G>A p.G1475E Missense 36/78 - 2
8-110455205-G-C c.4424G>C p.G1475A Missense 36/78 - 1
8-110455208-TC-GCACACAAGGTTTT c.4427_4428delinsGCACACAAGGTTTT p.I1476delinsSTQGF MultiAAMissense 36/78 - 1
8-110455209-C-T c.4428C>T p.I1476= Synonymous 36/78 - 1
8-110455210-C-T c.4429C>T p.H1477Y Missense 36/78 - 5
8-110455218-AT-A c.4437del p.Y1479* Frameshift 36/78 - 1
8-110455222-A-C c.4441A>C p.S1481R Missense 36/78 - 1
8-110455224-C-A c.4443C>A p.S1481R Missense 36/78 - 1
8-110455224-C-G c.4443C>G p.S1481R Missense 36/78 - 1
8-110455225-G-T c.4444G>T p.G1482W Missense 36/78 - 1
8-110455226-G-T c.4445G>T p.G1482V Missense 36/78 - 1
8-110455234-G-A c.4453G>A p.D1485N Missense 36/78 - 1
8-110455239-G-T c.4458G>T p.E1486D Missense 36/78 - 1
8-110455240-GC-TG c.4459_4460delinsTG p.A1487C Missense 36/78 - 1
8-110455248-C-T c.4467C>T p.S1489= Synonymous 36/78 - 1
8-110455249-AT-A c.4473del p.L1492Sfs*46 Frameshift 36/78 - 1
8-110455255-C-T c.4474C>T p.L1492F Missense 36/78 - 1
8-110455259-A-C c.4478A>C p.Q1493P Missense 36/78 - 2
8-110455261-G-A c.4480G>A p.G1494R Missense 36/78 - 1
8-110455261-G-T c.4480G>T p.G1494* Nonsense 36/78 - 1
8-110455264-G-T c.4483G>T p.V1495F Missense 36/78 - 1
8-110455268-T-C c.4487T>C p.I1496T Missense 36/78 - 3
8-110455273-G-T c.4492G>T p.V1498F Missense 36/78 - 1
8-110455274-T-G c.4493T>G p.V1498G Missense 36/78 - 2
8-110455282-G-A c.4501G>A p.A1501T Missense 36/78 - 1
8-110455290-C-A c.4509C>A p.T1503= Synonymous 36/78 - 2
8-110455290-C-G c.4509C>G p.T1503= Synonymous 36/78 - 1
8-110455290-C-T c.4509C>T p.T1503= Synonymous 36/78 - 1
8-110455298-T-C c.4517T>C p.I1506T Missense 36/78 - 2
8-110455300-C-T c.4519C>T p.P1507S Missense 36/78 - 6
8-110455301-C-T c.4520C>T p.P1507L Missense 36/78 - 1
8-110455309-C-T c.4528C>T p.L1510= Synonymous 36/78 - 1
8-110455311-G-A c.4530G>A p.L1510= Synonymous 36/78 - 1
8-110455311-G-C c.4530G>C p.L1510= Synonymous 36/78 - 1
8-110455311-G-T c.4530G>T p.L1510= Synonymous 36/78 - 1
8-110455314-T-C c.4533T>C p.F1511= Synonymous 36/78 - 1
8-110455315-G-T c.4534G>T p.V1512L Missense 36/78 - 1
8-110455316-T-C c.4535T>C p.V1512A Missense 36/78 - 1
8-110455321-C-A c.4540C>A p.R1514S Missense 36/78 - 34
8-110455321-CGC-TGG c.4540_4542delinsTGG p.R1514W Missense 36/78 - 1
8-110455323-C-A c.4542C>A p.R1514= Synonymous 36/78 - 1
8-110455323-C-G c.4542C>G p.R1514= Synonymous 36/78 - 1
8-110455323-C-T c.4542C>T p.R1514= Synonymous 36/78 - 1
8-110455327-G-T c.4546G>T p.E1516* Nonsense 36/78 - 1
8-110455330-G-C c.4549G>C p.A1517P Missense 36/78 - 2
8-110455333-A-T c.4552A>T p.T1518S Missense 36/78 - 1
8-110455335-A-C c.4554A>C p.T1518= Synonymous 36/78 - 1
8-110455335-A-G c.4554A>G p.T1518= Synonymous 36/78 - 1
8-110455335-A-T c.4554A>T p.T1518= Synonymous 36/78 - 1
8-110455339-G-A c.4558G>A p.A1520T Missense 36/78 - 1
8-110455342-T-C c.4561T>C p.Y1521H Missense 36/78 - 1
8-110455344-T-C c.4563T>C p.Y1521= Synonymous 36/78 - 1
8-110455345-G-A c.4564G>A p.G1522R Missense 36/78 - 1
8-110455345-G-C c.4564G>C p.G1522R Missense 36/78 - 2
8-110455905-G-A c.4565G>A p.G1522E Missense 37/78 - 3
8-110455908-G-A c.4568G>A p.G1523E Missense 37/78 - 1
8-110455909-A-G c.4569A>G p.G1523= Synonymous 37/78 - 1
8-110455915-G-C c.4575G>C p.E1525D Missense 37/78 - 1
8-110455915-G-T c.4575G>T p.E1525D Missense 37/78 - 1
8-110455918-T-C c.4578T>C p.N1526= Synonymous 37/78 - 1
8-110455925-T-G c.4585T>G p.L1529V Missense 37/78 - 4
8-110455929-G-A c.4589G>A p.G1530E Missense 37/78 - 2
8-110455929-G-C c.4589G>C p.G1530A Missense 37/78 - 1
8-110455931-A-G c.4591A>G p.S1531G Missense 37/78 - 2
8-110455935-C-T c.4595C>T p.S1532F Missense 37/78 - 2
8-110455939-G-T c.4599G>T p.V1533= Synonymous 37/78 - 1
8-110455940-G-C c.4600G>C p.A1534P Missense 37/78 - 2
8-110455944-GC-AG c.4604_4605delinsAG p.G1535E Missense 37/78 - 1
8-110455953-C-A c.4613C>A p.A1538E Missense 37/78 - 1
8-110455954-A-C c.4614A>C p.A1538= Synonymous 37/78 - 1
8-110455954-A-G c.4614A>G p.A1538= Synonymous 37/78 - 1
8-110455954-A-T c.4614A>T p.A1538= Synonymous 37/78 - 1
8-110455956-C-G c.4616C>G p.T1539R Missense 37/78 - 4
8-110455956-C-T c.4616C>T p.T1539I Missense 37/78 - 1
8-110455957-A-C c.4617A>C p.T1539= Synonymous 37/78 - 1
8-110455957-A-G c.4617A>G p.T1539= Synonymous 37/78 - 2
8-110455957-A-T c.4617A>T p.T1539= Synonymous 37/78 - 1
8-110455958-G-A c.4618G>A p.E1540K Missense 37/78 - 2
8-110455958-G-C c.4618G>C p.E1540Q Missense 37/78 - 1
8-110455958-G-T c.4618G>T p.E1540* Nonsense 37/78 - 3
8-110455959-A-T c.4619A>T p.E1540V Missense 37/78 - 1
8-110455962-C-T c.4622C>T p.P1541L Missense 37/78 - 2
8-110455963-C-T c.4623C>T p.P1541= Synonymous 37/78 - 2
8-110455969-C-T c.4629C>T p.C1543= Synonymous 37/78 - 2
8-110455975-G-A c.4635G>A p.L1545= Synonymous 37/78 - 1
8-110455977-A-G c.4637A>G p.N1546S Missense 37/78 - 1
8-110455978-C-A c.4638C>A p.N1546K Missense 37/78 - 2
8-110455978-C-G c.4638C>G p.N1546K Missense 37/78 - 1
8-110455982-A-G c.4642A>G p.T1548A Missense 37/78 - 4
8-110455983-C-T c.4643C>T p.T1548I Missense 37/78 - 2
8-110455984-C-A c.4644C>A p.T1548= Synonymous 37/78 - 1
8-110455984-C-G c.4644C>G p.T1548= Synonymous 37/78 - 1
8-110455984-C-T c.4644C>T p.T1548= Synonymous 37/78 - 1
8-110455987-G-A c.4647G>A p.R1549= Synonymous 37/78 - 1
8-110455987-G-C c.4647G>C p.R1549S Missense 37/78 - 3
8-110455987-G-T c.4647G>T p.R1549S Missense 37/78 - 3
8-110455993-A-AT c.4653_4654insT p.N1552* Nonsense 37/78 - 1
8-110455995-A-T c.4655A>T p.N1552I Missense 37/78 - 1
8-110455998-C-G c.4658C>G p.S1553* Nonsense 37/78 - 1
8-110455998-C-T c.4658C>T p.S1553L Missense 37/78 - 3
8-110456002-A-G c.4662A>G p.K1554= Synonymous 37/78 - 1
8-110456004-G-A c.4664G>A p.R1555K Missense 37/78 - 1
8-110456009-C-G c.4669C>G p.L1557V Missense 37/78 - 3
8-110456009-C-T c.4669C>T p.L1557= Synonymous 37/78 - 1
8-110456009-GCTA-G c.4669_4671del p.L1557del InFrameDeletion 37/78 - 1
8-110456013-TTGAGG-T c.4675_4679del p.E1559Ffs*20 Frameshift 37/78 - 1
8-110456017-G-C c.4677G>C p.E1559D Missense 37/78 - 1
8-110456017-G-T c.4677G>T p.E1559D Missense 37/78 - 1
8-110456022-C-A c.4682C>A p.S1561* Nonsense 37/78 - 1
8-110456022-C-G c.4682C>G p.S1561* Nonsense 37/78 - 1
8-110456029-T-C c.4689T>C p.C1563= Synonymous 37/78 - 1
8-110456036-C-T c.4696C>T p.P1566S Missense 37/78 - 3
8-110456040-C-T c.4700C>T p.S1567F Missense 37/78 - 1
8-110456046-G-A c.4706G>A p.S1569N Missense 37/78 - 1
8-110456045-A-C c.4705A>C p.S1569R Missense 37/78 - 1
8-110456047-C-A c.4707C>A p.S1569R Missense 37/78 - 2
8-110456047-C-G c.4707C>G p.S1569R Missense 37/78 - 1
8-110456048-A-G c.4708A>G p.N1570D Missense 37/78 - 1
8-110456049-A-G c.4709A>G p.N1570S Missense 37/78 - 3
8-110456054-A-G c.4714A>G p.T1572A Missense 37/78 - 1
8-110456057-C-T c.4717C>T p.P1573S Missense 37/78 - 3
8-110456058-C-T c.4718C>T p.P1573L Missense 37/78 - 1
8-110456059-G-A c.4719G>A p.P1573= Synonymous 37/78 - 1
8-110456059-G-C c.4719G>C p.P1573= Synonymous 37/78 - 1
8-110456059-G-T c.4719G>T p.P1573= Synonymous 37/78 - 1
8-110456063-A-T c.4723A>T p.T1575S Missense 37/78 - 1
8-110456064-C-G c.4724C>G p.T1575S Missense 37/78 - 1
8-110456066-G-T c.4726G>T p.G1576* Nonsense 37/78 - 1
8-110456065-TG-T c.4727del p.G1576Efs*3 Frameshift 37/78 - 1
8-110456067-G-A c.4727G>A p.G1576E Missense 37/78 - 1
8-110456078-G-A c.4738G>A p.E1580K Missense 37/78 - 1
8-110456078-G-C c.4738G>C p.E1580Q Missense 37/78 - 1
8-110456078-G-T c.4738G>T p.E1580* Nonsense 37/78 - 1
8-110456081-C-A c.4741C>A p.L1581I Missense 37/78 - 1
8-110456081-CTA-TTT c.4741_4743delinsTTT p.L1581F Missense 37/78 - 1
8-110456084-A-G c.4744A>G p.I1582V Missense 37/78 - 1
8-110456087-A-G c.4747A>G p.T1583A Missense 37/78 - 4
8-110456096-G-T c.4756G>T p.G1586* Nonsense 37/78 - 4
8-110456097-G-A c.4757G>A p.G1586E Missense 37/78 - 5
8-110456104-C-A c.4764C>A p.G1588= Synonymous 37/78 - 1
8-110456104-C-G c.4764C>G p.G1588= Synonymous 37/78 - 1
8-110456104-C-T c.4764C>T p.G1588= Synonymous 37/78 - 1
8-110456107-T-C c.4767T>C p.F1589= Synonymous 37/78 - 1
8-110456114-C-T c.4774C>T p.L1592F Missense 37/78 - 3
8-110456115-T-C c.4775T>C p.L1592P Missense 37/78 - 1
8-110456116-C-A c.4776C>A p.L1592= Synonymous 37/78 - 1
8-110456116-C-T c.4776C>T p.L1592= Synonymous 37/78 - 1
8-110456117-C-A c.4777C>A p.P1593T Missense 37/78 - 1
8-110456118-C-T c.4778C>T p.P1593L Missense 37/78 - 2
8-110456120-TG-T c.4783del p.A1595Lfs*13 Frameshift 37/78 - 1
8-110456123-G-A c.4783G>A p.A1595T Missense 37/78 - 1
8-110456123-GC-CT c.4783_4784delinsCT p.A1595L Missense 37/78 - 1
8-110456129-A-C c.4789A>C p.K1597Q Missense 37/78 - 1
8-110456129-A-G c.4789A>G p.K1597E Missense 37/78 - 1
8-110456352-C-A c.4791+221C>A - IntronicSNV - 37/77 1
8-110456352-C-G c.4791+221C>G - IntronicSNV - 37/77 1
8-110456354-A-C c.4791+223A>C - IntronicSNV - 37/77 1
8-110456893-A-C c.4795A>C p.T1599P Missense 38/78 - 1
8-110456899-G-T c.4801G>T p.G1601C Missense 38/78 - 2
8-110456906-A-G c.4808A>G p.Y1603C Missense 38/78 - 1
8-110456908-C-A c.4810C>A p.P1604T Missense 38/78 - 1
8-110456909-C-T c.4811C>T p.P1604L Missense 38/78 - 1
8-110456910-C-A c.4812C>A p.P1604= Synonymous 38/78 - 1
8-110456916-C-G c.4818C>G p.V1606= Synonymous 38/78 - 1
8-110456916-C-T c.4818C>T p.V1606= Synonymous 38/78 - 1
8-110456917-G-A c.4819G>A p.V1607I Missense 38/78 - 3
8-110456917-G-C c.4819G>C p.V1607L Missense 38/78 - 2
8-110456917-G-T c.4819G>T p.V1607L Missense 38/78 - 1
8-110456922-A-C c.4824A>C p.E1608D Missense 38/78 - 2
8-110456922-A-T c.4824A>T p.E1608D Missense 38/78 - 3
8-110456923-G-A c.4825G>A p.E1609K Missense 38/78 - 5
8-110456925-A-C c.4827A>C p.E1609D Missense 38/78 - 1
8-110456925-A-T c.4827A>T p.E1609D Missense 38/78 - 5
8-110456933-A-G c.4835A>G p.E1612G Missense 38/78 - 1
8-110456933-AG-A c.4837del p.D1613Ifs*23 Frameshift 38/78 - 1
8-110456936-A-G c.4838A>G p.D1613G Missense 38/78 - 1
8-110456939-C-G c.4841C>G p.S1614* Nonsense 38/78 - 1
8-110456939-C-T c.4841C>T p.S1614L Missense 38/78 - 2
8-110456945-C-T c.4847C>T p.T1616I Missense 38/78 - 1
8-110456947-T-C c.4849T>C p.C1617R Missense 38/78 - 1
8-110456949-T-A c.4851T>A p.C1617* Nonsense 38/78 - 3
8-110456949-T-C c.4851T>C p.C1617= Synonymous 38/78 - 1
8-110456950-C-A c.4852C>A p.H1618N Missense 38/78 - 1
8-110456960-C-T c.4862C>T p.P1621L Missense 38/78 - 1
8-110456963-A-G c.4865A>G p.Q1622R Missense 38/78 - 1
8-110456963-A-T c.4865A>T p.Q1622L Missense 38/78 - 1
8-110456968-T-C c.4870T>C p.S1624P Missense 38/78 - 1
8-110456969-CA-GT c.4871_4872delinsGT p.S1624C Missense 38/78 - 2
8-110456970-A-C c.4872A>C p.S1624= Synonymous 38/78 - 1
8-110456970-A-G c.4872A>G p.S1624= Synonymous 38/78 - 1
8-110456970-A-T c.4872A>T p.S1624= Synonymous 38/78 - 1
8-110456973-G-A c.4875G>A p.M1625I Missense 38/78 - 1
8-110456973-G-C c.4875G>C p.M1625I Missense 38/78 - 1
8-110456973-G-T c.4875G>T p.M1625I Missense 38/78 - 2
8-110456974-G-A c.4876G>A p.D1626N Missense 38/78 - 2
8-110456981-G-A c.4883G>A p.G1628D Missense 38/78 - 4
8-110456987-G-C c.4889G>C p.R1630T Missense 38/78 - 3
8-110456989-G-A c.4891G>A p.E1631K Missense 38/78 - 6
8-110456993-C-T c.4895C>T p.T1632I Missense 38/78 - 1
8-110456995-G-A c.4897G>A p.V1633I Missense 38/78 - 1
8-110456998-A-G c.4900A>G p.T1634A Missense 38/78 - 1
8-110457003-G-C c.4905G>C p.L1635F Missense 38/78 - 1
8-110457003-G-T c.4905G>T p.L1635F Missense 38/78 - 3
8-110457005-C-T c.4907C>T p.T1636I Missense 38/78 - 1
8-110457007-G-A c.4909G>A p.V1637I Missense 38/78 - 2
8-110457007-G-C c.4909G>C p.V1637L Missense 38/78 - 3
8-110457007-G-T c.4909G>T p.V1637F Missense 38/78 - 1
8-110457011-A-G c.4913A>G p.Y1638C Missense 38/78 - 20
8-110457012-C-T c.4914C>T p.Y1638= Synonymous 38/78 - 2
8-110457016-C-A c.4918C>A p.L1640M Missense 38/78 - 1
8-110457016-C-T c.4918C>T p.L1640= Synonymous 38/78 - 2
8-110457017-T-G c.4919T>G p.L1640R Missense 38/78 - 1
8-110457018-G-T c.4920G>T p.L1640= Synonymous 38/78 - 2
8-110457019-G-C c.4921G>C p.G1641R Missense 38/78 - 2
8-110457021-C-A c.4923C>A p.G1641= Synonymous 38/78 - 1
8-110457021-C-G c.4923C>G p.G1641= Synonymous 38/78 - 1
8-110457021-C-T c.4923C>T p.G1641= Synonymous 38/78 - 1
8-110457023-C-T c.4925C>T p.T1642I Missense 38/78 - 1
8-110457025-G-A c.4927G>A p.A1643T Missense 38/78 - 2
8-110457026-CT-AG c.4928_4929inv p.A1643E Missense 38/78 - 1
8-110457031-A-T c.4933A>T p.N1645Y Missense 38/78 - 1
8-110457035-C-G c.4937C>G p.T1646R Missense 38/78 - 1
8-110457035-C-T c.4937C>T p.T1646M Missense 38/78 - 2
8-110457036-G-T c.4938G>T p.T1646= Synonymous 38/78 - 1
8-110457037-T-C c.4939T>C p.L1647= Synonymous 38/78 - 1
8-110457039-G-A c.4941G>A p.L1647= Synonymous 38/78 - 1
8-110457045-T-A c.4947T>A p.N1649K Missense 38/78 - 1
8-110457046-G-A c.4948G>A p.E1650K Missense 38/78 - 8
8-110457047-A-C c.4949A>C p.E1650A Missense 38/78 - 1
8-110457052-G-C c.4954G>C p.D1652H Missense 38/78 - 2
8-110457054-T-C c.4956T>C p.D1652= Synonymous 38/78 - 1
8-110457054-T-TG c.4956_4957insG p.R1653Efs*10 Frameshift 38/78 - 1
8-110457058-C-T c.4960C>T p.R1654* Nonsense 38/78 - 4
8-110457059-G-A c.4961G>A p.R1654Q Missense 38/78 - 11
8-110457073-C-A c.4975C>A p.P1659T Missense 38/78 - 1
8-110457075-A-G c.4977A>G p.P1659= Synonymous 38/78 - 1
8-110457083-A-G c.4985A>G p.D1662G Missense 38/78 - 7
8-110457087-G-T c.4989G>T p.L1663= Synonymous 38/78 - 1
8-110457088-G-A c.4990G>A p.V1664M Missense 38/78 - 1
8-110457091-T-C c.4993T>C p.L1665= Synonymous 38/78 - 1
8-110457093-G-A c.4995G>A p.L1665= Synonymous 38/78 - 1
8-110457097-A-T c.4999A>T p.N1667Y Missense 38/78 - 1
8-110457103-G-A c.5005G>A p.G1669R Missense 38/78 - 3
8-110457104-G-A c.5006G>A p.G1669E Missense 38/78 - 2
8-110457107-CA-GT c.5009_5010delinsGT p.S1670C Missense 38/78 - 1
8-110457107-C-T c.5009C>T p.S1670L Missense 38/78 - 3
8-110457109-A-G c.5011A>G p.T1671A Missense 38/78 - 1
8-110457110-CT-TG c.5012_5013delinsTG p.T1671M Missense 38/78 - 1
8-110457114-A-C c.5016A>C p.T1672= Synonymous 38/78 - 1
8-110457114-A-G c.5016A>G p.T1672= Synonymous 38/78 - 1
8-110457114-A-T c.5016A>T p.T1672= Synonymous 38/78 - 1
8-110457115-G-C c.5017G>C p.G1673R Missense 38/78 - 1
8-110457126-C-T c.5028C>T p.S1676= Synonymous 38/78 - 3
8-110457127-G-A c.5029G>A p.V1677M Missense 38/78 - 3
8-110457132-C-T c.5034C>T p.T1678= Synonymous 38/78 - 1
8-110457139-G-C c.5041G>C p.G1681R Missense 38/78 - 1
8-110457140-GC-AG c.5042_5043delinsAG p.G1681E Missense 38/78 - 1
8-110457146-G-A c.5048G>A p.G1683E Missense 38/78 - 1
8-110457152-C-T c.5054C>T p.A1685V Missense 38/78 - 1
8-110457154-G-A c.5056G>A p.V1686I Missense 38/78 - 3
8-110457158-C-T c.5060C>T p.S1687F Missense 38/78 - 4
8-110457160-TC-CT c.5062_5063delinsCT p.S1688L Missense 38/78 - 1
8-110457161-C-A c.5063C>A p.S1688Y Missense 38/78 - 2
8-110457161-C-G c.5063C>G p.S1688C Missense 38/78 - 3
8-110457161-C-T c.5063C>T p.S1688F Missense 38/78 - 1
8-110457164-C-G c.5066C>G p.A1689G Missense 38/78 - 2
8-110457164-C-T c.5066C>T p.A1689V Missense 38/78 - 2
8-110457167-G-A c.5069G>A p.G1690D Missense 38/78 - 1
8-110457176-T-A c.5078T>A p.V1693D Missense 38/78 - 1
8-110457176-T-C c.5078T>C p.V1693A Missense 38/78 - 1
8-110457177-C-A c.5079C>A p.V1693= Synonymous 38/78 - 1
8-110457177-C-G c.5079C>G p.V1693= Synonymous 38/78 - 1
8-110457177-C-T c.5079C>T p.V1693= Synonymous 38/78 - 1
8-110457178-C-T c.5080C>T p.L1694F Missense 38/78 - 4
8-110457183-G-A c.5085G>A p.M1695I Missense 38/78 - 4
8-110457183-G-C c.5085G>C p.M1695I Missense 38/78 - 3
8-110457183-G-T c.5085G>T p.M1695I Missense 38/78 - 3
8-110457185-G-A c.5087G>A p.G1696D Missense 38/78 - 2
8-110457185-G-C c.5087G>C p.G1696A Missense 38/78 - 1
8-110457185-G-T c.5087G>T p.G1696V Missense 38/78 - 1
8-110457187-C-A c.5089C>A p.H1697N Missense 38/78 - 1
8-110457187-C-T c.5089C>T p.H1697Y Missense 38/78 - 3
8-110457191-T-C c.5093T>C p.F1698S Missense 38/78 - 1
8-110457192-C-T c.5094C>T p.F1698= Synonymous 38/78 - 4
8-110457196-T-A c.5098T>A p.C1700S Missense 38/78 - 3
8-110457197-G-C c.5099G>C p.C1700S Missense 38/78 - 2
8-110457202-G-A c.5104G>A p.V1702I Missense 38/78 - 4
8-110457203-T-G c.5105T>G p.V1702G Missense 38/78 - 1
8-110457204-T-A c.5106T>A p.V1702= Synonymous 38/78 - 1
8-110457204-T-C c.5106T>C p.V1702= Synonymous 38/78 - 1
8-110457204-T-G c.5106T>G p.V1702= Synonymous 38/78 - 1
8-110457205-C-A c.5107C>A p.L1703I Missense 38/78 - 2
8-110457206-T-A c.5108T>A p.L1703Q Missense 38/78 - 1
8-110457205-C-T c.5107C>T p.L1703= Synonymous 38/78 - 2
8-110457207-A-C c.5109A>C p.L1703= Synonymous 38/78 - 1
8-110457207-A-G c.5109A>G p.L1703= Synonymous 38/78 - 1
8-110457207-A-T c.5109A>T p.L1703= Synonymous 38/78 - 1
8-110457209-C-T c.5111C>T p.S1704L Missense 38/78 - 6
8-110457211-G-C c.5113G>C p.V1705L Missense 38/78 - 1
8-110457211-G-T c.5113G>T p.V1705L Missense 38/78 - 1
8-110457213-G-A c.5115G>A p.V1705= Synonymous 38/78 - 2
8-110457219-T-A c.5121T>A p.Y1707* Nonsense 38/78 - 1
8-110457219-T-G c.5121T>G p.Y1707* Nonsense 38/78 - 1
8-110457222-G-A c.5124G>A p.T1708= Synonymous 38/78 - 1
8-110457223-G-A c.5125G>A p.A1709T Missense 38/78 - 5
8-110457223-G-T c.5125G>T p.A1709S Missense 38/78 - 1
8-110457224-C-T c.5126C>T p.A1709V Missense 38/78 - 8
8-110457226-A-G c.5128A>G p.I1710V Missense 38/78 - 1
8-110457229-G-A c.5131G>A p.E1711K Missense 38/78 - 2
8-110457229-G-C c.5131G>C p.E1711Q Missense 38/78 - 1
8-110457232-T-C c.5134T>C p.C1712R Missense 38/78 - 1
8-110457235-G-A c.5137G>A p.E1713K Missense 38/78 - 9
8-110457238-A-T c.5140A>T p.T1714S Missense 38/78 - 2
8-110457241-T-A c.5143T>A p.S1715T Missense 38/78 - 1
8-110457242-C-A c.5144C>A p.S1715Y Missense 38/78 - 1
8-110457244-C-T c.5146C>T p.P1716S Missense 38/78 - 3
8-110457247-G-T c.5149G>T p.A1717S Missense 38/78 - 1
8-110457249-T-A c.5151T>A p.A1717= Synonymous 38/78 - 1
8-110457249-T-C c.5151T>C p.A1717= Synonymous 38/78 - 1
8-110457249-T-G c.5151T>G p.A1717= Synonymous 38/78 - 1
8-110457250-G-A c.5152G>A p.A1718T Missense 38/78 - 2
8-110457253-C-T c.5155C>T p.Q1719* Nonsense 38/78 - 1
8-110457262-GTG-ATC c.5164_5166delinsATC p.V1722I Missense 38/78 - 1
8-110457264-G-C c.5166G>C p.V1722= Synonymous 38/78 - 1
8-110457271-G-A c.5173G>A p.D1725N Missense 38/78 - 1
8-110457271-G-C c.5173G>C p.D1725H Missense 38/78 - 1
8-110457282-A-G c.5184A>G p.I1728M Missense 38/78 - 1
8-110457283-C-G c.5185C>G p.H1729D Missense 38/78 - 1
8-110457283-C-T c.5185C>T p.H1729Y Missense 38/78 - 1
8-110457284-A-T c.5186A>T p.H1729L Missense 38/78 - 1
8-110457287-G-A c.5189G>A p.G1730E Missense 38/78 - 1
8-110457292-C-T c.5194C>T p.P1732S Missense 38/78 - 1
8-110457293-C-A c.5195C>A p.P1732H Missense 38/78 - 4
8-110457294-T-TA c.5196_5197insA p.A1733Sfs*36 Frameshift 38/78 - 1
8-110457295-G-T c.5197G>T p.A1733S Missense 38/78 - 1
8-110457296-C-T c.5198C>T p.A1733V Missense 38/78 - 2
8-110457298-C-T c.5200C>T p.Q1734* Nonsense 38/78 - 1
8-110457300-G-C c.5202G>C p.Q1734H Missense 38/78 - 1
8-110457300-G-T c.5202G>T p.Q1734H Missense 38/78 - 1
8-110457306-G-T c.5208G>T p.Q1736H Missense 38/78 - 1
8-110457307-G-T c.5209G>T p.G1737* Nonsense 38/78 - 5
8-110457308-G-A c.5210G>A p.G1737E Missense 38/78 - 5
8-110457310-A-T c.5212A>T p.N1738Y Missense 38/78 - 2
8-110457315-C-A c.5217C>A p.C1739* Nonsense 38/78 - 1
8-110457316-A-G c.5218A>G p.T1740A Missense 38/78 - 2
8-110457317-C-T c.5219C>T p.T1740I Missense 38/78 - 2
8-110457318-C-T c.5220C>T p.T1740= Synonymous 38/78 - 1
8-110457319-T-A c.5221T>A p.F1741I Missense 38/78 - 4
8-110457322-T-C c.5224T>C p.S1742P Missense 38/78 - 3
8-110457323-C-T c.5225C>T p.S1742L Missense 38/78 - 9
8-110457331-G-A c.5233G>A p.E1745K Missense 38/78 - 5
8-110457335-G-A c.5237G>A p.S1746N Missense 38/78 - 1
8-110457339-C-T c.5241C>T p.I1747= Synonymous 38/78 - 1
8-110457343-C-T c.5245C>T p.P1749S Missense 38/78 - 4
8-110457348-C-T c.5250C>T p.Y1750= Synonymous 38/78 - 1
8-110457350-T-A c.5252T>A p.I1751K Missense 38/78 - 1
8-110457354-A-C c.5256A>C p.T1752= Synonymous 38/78 - 1
8-110457355-G-A c.5257G>A p.G1753R Missense 38/78 - 3
8-110457355-G-C c.5257G>C p.G1753R Missense 38/78 - 2
8-110457356-G-A c.5258G>A p.G1753E Missense 38/78 - 1
8-110457356-G-T c.5258G>T p.G1753V Missense 38/78 - 1
8-110457360-C-T c.5262C>T p.V1754= Synonymous 38/78 - 1
8-110457364-C-A c.5266C>A p.P1756T Missense 38/78 - 1
8-110457371-C-A c.5273C>A p.S1758Y Missense 38/78 - 2
8-110457371-C-T c.5273C>T p.S1758F Missense 38/78 - 5
8-110457373-G-A c.5275G>A p.V1759I Missense 38/78 - 1
8-110457376-A-G c.5278A>G p.I1760V Missense 38/78 - 2
8-110457380-G-A c.5282G>A p.G1761E Missense 38/78 - 5
8-110457381-A-G c.5283A>G p.G1761= Synonymous 38/78 - 1
8-110457385-G-C c.5287G>C p.V1763L Missense 38/78 - 1
8-110457385-G-T c.5287G>T p.V1763L Missense 38/78 - 2
8-110457394-C-A c.5296C>A p.L1766I Missense 38/78 - 1
8-110457397-A-C c.5299A>C p.I1767L Missense 38/78 - 4
8-110457398-T-C c.5300T>C p.I1767T Missense 38/78 - 2
8-110457400-G-A c.5302G>A p.E1768K Missense 38/78 - 1
8-110457401-A-G c.5303A>G p.E1768G Missense 38/78 - 1
8-110457403-G-A c.5305G>A p.G1769R Missense 38/78 - 2
8-110457403-G-C c.5305G>C p.G1769R Missense 38/78 - 3
8-110457404-G-T c.5306G>T p.G1769V Missense 38/78 - 3
8-110457409-G-A c.5311G>A p.G1771S Missense 38/78 - 2
8-110457410-G-A c.5312G>A p.G1771D Missense 38/78 - 2
8-110457414-G-T c.5316G>T p.L1772F Missense 38/78 - 4
8-110457415-G-T c.5317G>T p.G1773W Missense 38/78 - 1
8-110457416-G-A c.5318G>A p.G1773E Missense 38/78 - 2
8-110457417-G-A c.5319G>A p.G1773= Synonymous 38/78 - 1
8-110457417-G-C c.5319G>C p.G1773= Synonymous 38/78 - 2
8-110457417-G-T c.5319G>T p.G1773= Synonymous 38/78 - 1
8-110457421-G-C c.5323G>C p.V1775L Missense 38/78 - 3
8-110457425-T-A c.5327T>A p.L1776* Nonsense 38/78 - 1
8-110457425-T-G c.5327T>G p.L1776W Missense 38/78 - 3
8-110457426-G-A c.5328G>A p.L1776= Synonymous 38/78 - 1
8-110457425-TG-T c.5329del p.E1777Rfs*15 Frameshift 38/78 - 1
8-110457431-A-G c.5333A>G p.D1778G Missense 38/78 - 2
8-110457436-G-A c.5338G>A p.A1780T Missense 38/78 - 3
8-110457440-T-A c.5342T>A p.V1781D Missense 38/78 - 3
8-110457443-T-C c.5345T>C p.F1782S Missense 38/78 - 1
8-110457444-C-T c.5346C>T p.F1782= Synonymous 38/78 - 2
8-110457445-A-G c.5347A>G p.I1783V Missense 38/78 - 1
8-110457446-T-C c.5348T>C p.I1783T Missense 38/78 - 1
8-110457448-G-A c.5350G>A p.G1784R Missense 38/78 - 1
8-110457449-G-A c.5351G>A p.G1784E Missense 38/78 - 1
8-110457455-A-T c.5357A>T p.Q1786L Missense 38/78 - 3
8-110457458-A-T c.5360A>T p.Q1787L Missense 38/78 - 1
8-110457462-C-T c.5364C>T p.F1788= Synonymous 38/78 - 3
8-110457470-T-A c.5372T>A p.I1791K Missense 38/78 - 1
8-110457470-T-C c.5372T>C p.I1791T Missense 38/78 - 2
8-110457472-G-A c.5374G>A p.E1792K Missense 38/78 - 2
8-110457472-G-C c.5374G>C p.E1792Q Missense 38/78 - 1
8-110457472-G-T c.5374G>T p.E1792* Nonsense 38/78 - 1
8-110457474-G-C c.5376G>C p.E1792D Missense 38/78 - 1
8-110457474-G-T c.5376G>T p.E1792D Missense 38/78 - 1
8-110457481-G-A c.5383G>A p.E1795K Missense 38/78 - 3
8-110457483-A-G c.5385A>G p.E1795= Synonymous 38/78 - 2
8-110457485-A-G c.5387A>G p.N1796S Missense 38/78 - 1
8-110457487-A-C c.5389A>C p.N1797H Missense 38/78 - 2
8-110457492-C-A c.5394C>A p.I1798= Synonymous 38/78 - 1
8-110457492-C-T c.5394C>T p.I1798= Synonymous 38/78 - 1
8-110457493-A-G c.5395A>G p.T1799A Missense 38/78 - 1
8-110457497-C-T c.5399C>T p.A1800V Missense 38/78 - 1
8-110457500-T-C c.5402T>C p.L1801P Missense 38/78 - 2
8-110457504-G-A c.5406G>A p.V1802= Synonymous 38/78 - 1
8-110457504-G-C c.5406G>C p.V1802= Synonymous 38/78 - 1
8-110457504-G-T c.5406G>T p.V1802= Synonymous 38/78 - 1
8-110457505-A-T c.5407A>T p.T1803S Missense 38/78 - 1
8-110457506-C-G c.5408C>G p.T1803S Missense 38/78 - 1
8-110457508-C-A c.5410C>A p.P1804T Missense 38/78 - 1
8-110457509-C-T c.5411C>T p.P1804L Missense 38/78 - 2
8-110457513-C-T c.5415C>T p.L1805= Synonymous 38/78 - 1
8-110457514-CC-TA c.5416_5417delinsTA p.P1806* Nonsense 38/78 - 1
8-110457514-C-T c.5416C>T p.P1806S Missense 38/78 - 5
8-110457515-C-A c.5417C>A p.P1806Q Missense 38/78 - 1
8-110457518-T-C c.5420T>C p.V1807A Missense 38/78 - 5
8-110457520-G-A c.5422G>A p.G1808R Missense 38/78 - 1
8-110457530-C-G c.5432C>G p.S1811C Missense 38/78 - 1
8-110457536-G-A c.5438G>A p.S1813N Missense 38/78 - 7
8-110457538-G-A c.5440G>A p.V1814I Missense 38/78 - 1
8-110457546-G-T c.5448G>T p.V1816= Synonymous 38/78 - 1
8-110457547-G-A c.5449G>A p.G1817R Missense 38/78 - 4
8-110457547-G-C c.5449G>C p.G1817R Missense 38/78 - 5
8-110457548-G-A c.5450G>A p.G1817E Missense 38/78 - 2
8-110457551-AG-A c.5453del p.S1818Ifs*9 Frameshift 38/78 - 1
8-110457552-T-A c.5454T>A p.S1818R Missense 38/78 - 2
8-110457553-A-G c.5455A>G p.K1819E Missense 38/78 - 1
8-110457556-G-A c.5458G>A p.G1820S Missense 38/78 - 2
8-110457557-G-A c.5459G>A p.G1820D Missense 38/78 - 5
8-110457559-TT-AG c.5461_5462delinsAG p.L1821R Missense 38/78 - 1
8-110457565-C-T c.5467C>T p.L1823= Synonymous 38/78 - 1
8-110457566-T-G c.5468T>G p.L1823R Missense 38/78 - 1
8-110457567-G-A c.5469G>A p.L1823= Synonymous 38/78 - 2
8-110457569-G-A c.5471G>A p.G1824E Missense 38/78 - 5
8-110457569-G-C c.5471G>C p.G1824A Missense 38/78 - 1
8-110457571-A-T c.5473A>T p.N1825Y Missense 38/78 - 4
8-110457572-A-T c.5474A>T p.N1825I Missense 38/78 - 4
8-110457574-C-T c.5476C>T p.L1826= Synonymous 38/78 - 1
8-110457574-CTG-TTT c.5476_5478delinsTTT p.L1826F Missense 38/78 - 1
8-110457580-G-A c.5482G>A p.V1828I Missense 38/78 - 2
8-110457582-C-A c.5484C>A p.V1828= Synonymous 38/78 - 1
8-110457584-G-T c.5486G>T p.S1829I Missense 38/78 - 3
8-110457583-A-C c.5485A>C p.S1829R Missense 38/78 - 1
8-110457585-C-A c.5487C>A p.S1829R Missense 38/78 - 2
8-110457585-C-G c.5487C>G p.S1829R Missense 38/78 - 1
8-110457589-C-A c.5491C>A p.P1831T Missense 38/78 - 3
8-110457590-C-G c.5492C>G p.P1831R Missense 38/78 - 2
8-110457590-C-T c.5492C>T p.P1831L Missense 38/78 - 5
8-110457591-C-A c.5493C>A p.P1831= Synonymous 38/78 - 1
8-110457591-C-G c.5493C>G p.P1831= Synonymous 38/78 - 1
8-110457591-C-T c.5493C>T p.P1831= Synonymous 38/78 - 4
8-110457592-C-T c.5494C>T p.P1832S Missense 38/78 - 6
8-110457587-G-GC c.5495dup p.V1833Sfs*36 Frameshift 38/78 - 1
8-110457602-C-A c.5504C>A p.S1835Y Missense 38/78 - 1
8-110457608-C-A c.5510C>A p.S1837* Nonsense 38/78 - 1
8-110457608-C-G c.5510C>G p.S1837* Nonsense 38/78 - 1
8-110457608-C-T c.5510C>T p.S1837L Missense 38/78 - 3
8-110457610-C-T c.5512C>T p.P1838S Missense 38/78 - 2
8-110457611-C-A c.5513C>A p.P1838Q Missense 38/78 - 3
8-110457613-A-G c.5515A>G p.T1839A Missense 38/78 - 1
8-110457616-TC-CT c.5518_5519delinsCT p.S1840L Missense 38/78 - 1
8-110457629-G-T c.5531G>T p.G1844V Missense 38/78 - 2
8-110457630-T-A c.5532T>A p.G1844= Synonymous 38/78 - 1
8-110457630-T-C c.5532T>C p.G1844= Synonymous 38/78 - 1
8-110457630-T-G c.5532T>G p.G1844= Synonymous 38/78 - 1
8-110457634-G-A c.5536G>A p.G1846R Missense 38/78 - 1
8-110457634-G-C c.5536G>C p.G1846R Missense 38/78 - 1
8-110457640-A-G c.5542A>G p.T1848A Missense 38/78 - 1
8-110457651-C-T c.5553C>T p.I1851= Synonymous 38/78 - 2
8-110457655-G-A c.5557G>A p.G1853R Missense 38/78 - 5
8-110457655-G-C c.5557G>C p.G1853R Missense 38/78 - 1
8-110457656-G-A c.5558G>A p.G1853E Missense 38/78 - 4
8-110457658-A-G c.5560A>G p.N1854D Missense 38/78 - 1
8-110457660-T-C c.5562T>C p.N1854= Synonymous 38/78 - 2
8-110457661-G-C c.5563G>C p.G1855R Missense 38/78 - 1
8-110457664-T-C c.5566T>C p.F1856L Missense 38/78 - 4
8-110457666-C-G c.5568C>G p.F1856L Missense 38/78 - 4
8-110457666-C-A c.5568C>A p.F1856L Missense 38/78 - 6
8-110457667-CTAT-C c.5569_5571del p.Y1857del InFrameDeletion 38/78 - 1
8-110457670-C-T c.5572C>T p.P1858S Missense 38/78 - 2
8-110457673-G-T c.5575G>T p.G1859C Missense 38/78 - 3
8-110457675-C-T c.5577C>T p.G1859= Synonymous 38/78 - 1
8-110457684-A-C c.5586A>C p.T1862= Synonymous 38/78 - 1
8-110457692-T-C c.5594T>C p.I1865T Missense 38/78 - 1
8-110457694-G-A c.5596G>A p.G1866R Missense 38/78 - 1
8-110457695-G-A c.5597G>A p.G1866E Missense 38/78 - 3
8-110457697-G-A c.5599G>A p.D1867N Missense 38/78 - 8
8-110457697-G-T c.5599G>T p.D1867Y Missense 38/78 - 1
8-110457700-G-A c.5602G>A p.E1868K Missense 38/78 - 1
8-110457703-C-T c.5605C>T p.P1869S Missense 38/78 - 1
8-110457710-A-C c.5612A>C p.Q1871P Missense 38/78 - 1
8-110457719-C-T c.5621C>T p.S1874F Missense 38/78 - 3
8-110457720-C-A c.5622C>A p.S1874= Synonymous 38/78 - 1
8-110457720-C-G c.5622C>G p.S1874= Synonymous 38/78 - 1
8-110457720-C-T c.5622C>T p.S1874= Synonymous 38/78 - 3
8-110457722-T-C c.5624T>C p.I1875T Missense 38/78 - 1
8-110457725-A-G c.5627A>G p.N1876S Missense 38/78 - 1
8-110457728-C-T c.5630C>T p.P1877L Missense 38/78 - 2
8-110457729-C-T c.5631C>T p.P1877= Synonymous 38/78 - 1
8-110457730-A-G c.5632A>G p.N1878D Missense 38/78 - 1
8-110457733-G-A c.5635G>A p.E1879K Missense 38/78 - 1
8-110457736-G-C c.5638G>C p.V1880L Missense 38/78 - 1
8-110457740-A-G c.5642A>G p.Y1881C Missense 38/78 - 1
8-110457743-G-A c.5645G>A p.C1882Y Missense 38/78 - 4
8-110457743-G-T c.5645G>T p.C1882F Missense 38/78 - 3
8-110457744-C-G c.5646C>G p.C1882W Missense 38/78 - 2
8-110457745-C-T c.5647C>T p.R1883C Missense 38/78 - 6
8-110457746-G-A c.5648G>A p.R1883H Missense 38/78 - 3
8-110457746-G-T c.5648G>T p.R1883L Missense 38/78 - 2
8-110457750-T-A c.5652T>A p.T1884= Synonymous 38/78 - 1
8-110457750-T-C c.5652T>C p.T1884= Synonymous 38/78 - 2
8-110457750-T-G c.5652T>G p.T1884= Synonymous 38/78 - 1
8-110457751-C-T c.5653C>T p.P1885S Missense 38/78 - 5
8-110457752-C-T c.5654C>T p.P1885L Missense 38/78 - 2
8-110457754-G-A c.5656G>A p.A1886T Missense 38/78 - 2
8-110457755-C-A c.5657C>A p.A1886D Missense 38/78 - 1
8-110457758-G-A c.5660G>A p.G1887E Missense 38/78 - 1
8-110457766-G-A c.5668G>A p.G1890R Missense 38/78 - 2
8-110457772-G-A c.5674G>A p.V1892I Missense 38/78 - 1
8-110457774-C-A c.5676C>A p.V1892= Synonymous 38/78 - 1
8-110457775-G-A c.5677G>A p.D1893N Missense 38/78 - 3
8-110457778-G-A c.5680G>A p.V1894I Missense 38/78 - 1
8-110457786-C-G c.5688C>G p.I1896M Missense 38/78 - 1
8-110457786-C-T c.5688C>T p.I1896= Synonymous 38/78 - 1
8-110457787-T-C c.5689T>C p.F1897L Missense 38/78 - 4
8-110457789-T-A c.5691T>A p.F1897L Missense 38/78 - 4
8-110457789-T-G c.5691T>G p.F1897L Missense 38/78 - 7
8-110457789-T-C c.5691T>C p.F1897= Synonymous 38/78 - 1
8-110457791-T-G c.5693T>G p.V1898G Missense 38/78 - 4
8-110457793-A-G c.5695A>G p.N1899D Missense 38/78 - 1
8-110457796-A-G c.5698A>G p.T1900A Missense 38/78 - 2
8-110457796-A-T c.5698A>T p.T1900S Missense 38/78 - 1
8-110457799-A-G c.5701A>G p.I1901V Missense 38/78 - 1
8-110457803-C-T c.5705C>T p.A1902V Missense 38/78 - 2
8-110457809-C-G c.5711C>G p.P1904R Missense 38/78 - 2
8-110457809-C-T c.5711C>T p.P1904L Missense 38/78 - 1
8-110457812-C-T c.5714C>T p.P1905L Missense 38/78 - 1
8-110457817-C-T c.5719C>T p.L1907F Missense 38/78 - 3
8-110457825-A-G c.5727A>G p.T1909= Synonymous 38/78 - 1
8-110457830-C-T c.5732C>T p.A1911V Missense 38/78 - 1
8-110457835-G-A c.5737G>A p.E1913K Missense 38/78 - 2
8-110457835-G-C c.5737G>C p.E1913Q Missense 38/78 - 1
8-110457838-G-A c.5740G>A p.D1914N Missense 38/78 - 7
8-110457838-G-C c.5740G>C p.D1914H Missense 38/78 - 1
8-110457850-C-A c.5752C>A p.L1918I Missense 38/78 - 1
8-110457850-C-T c.5752C>T p.L1918F Missense 38/78 - 3
8-110457856-G-A c.5758G>A p.G1920R Missense 38/78 - 4
8-110457856-G-C c.5758G>C p.G1920R Missense 38/78 - 2
8-110457862-A-G c.5764A>G p.I1922V Missense 38/78 - 2
8-110457866-C-T c.5768C>T p.P1923L Missense 38/78 - 3
8-110457868-AG-TA c.5770_5771delinsTA p.S1924Y Missense 38/78 - 1
8-110457870-C-T c.5772C>T p.S1924= Synonymous 38/78 - 2
8-110457871-A-G c.5773A>G p.R1925G Missense 38/78 - 2
8-110458972-AT-A c.5776+1108del - IntronicDeletion - 38/77 1
8-110460372-G-C c.5777G>C p.G1926A Missense 39/78 - 1
8-110460374-C-A c.5779C>A p.P1927T Missense 39/78 - 1
8-110460394-G-C c.5799G>C p.E1933D Missense 39/78 - 1
8-110460394-G-T c.5799G>T p.E1933D Missense 39/78 - 1
8-110460397-C-T c.5802C>T p.I1934= Synonymous 39/78 - 3
8-110460398-A-G c.5803A>G p.T1935A Missense 39/78 - 1
8-110460399-C-G c.5804C>G p.T1935S Missense 39/78 - 1
8-110460402-G-A c.5807G>A p.G1936E Missense 39/78 - 2
8-110460402-G-C c.5807G>C p.G1936A Missense 39/78 - 1
8-110460406-C-T c.5811C>T p.S1937= Synonymous 39/78 - 1
8-110460413-G-T c.5818G>T p.G1940C Missense 39/78 - 1
8-110460416-T-C c.5821T>C p.F1941L Missense 39/78 - 2
8-110460418-T-A c.5823T>A p.F1941L Missense 39/78 - 1
8-110460418-T-G c.5823T>G p.F1941L Missense 39/78 - 1
8-110460421-G-A c.5826G>A p.E1942= Synonymous 39/78 - 1
8-110460422-A-C c.5827A>C p.I1943L Missense 39/78 - 1
8-110460425-T-C c.5830T>C p.L1944= Synonymous 39/78 - 1
8-110460428-G-A c.5833G>A p.E1945K Missense 39/78 - 7
8-110460435-C-T c.5840C>T p.S1947F Missense 39/78 - 4
8-110460444-T-C c.5849T>C p.I1950T Missense 39/78 - 1
8-110460445-A-AT c.5850_5851insT p.N1951* Nonsense 39/78 - 1
8-110460447-A-G c.5852A>G p.N1951S Missense 39/78 - 2
8-110460452-A-T c.5857A>T p.I1953F Missense 39/78 - 1
8-110460456-A-T c.5861A>T p.Q1954L Missense 39/78 - 1
8-110460460-T-C c.5865T>C p.C1955= Synonymous 39/78 - 3
8-110460461-A-G c.5866A>G p.N1956D Missense 39/78 - 1
8-110460464-GTA-ATG c.5869_5871delinsATG p.V1957M Missense 39/78 - 1
8-110460467-A-T c.5872A>T p.T1958S Missense 39/78 - 2
8-110460468-C-A c.5873C>A p.T1958N Missense 39/78 - 1
8-110460468-C-G c.5873C>G p.T1958S Missense 39/78 - 1
8-110460474-C-T c.5879C>T p.A1960V Missense 39/78 - 1
8-110460477-A-G c.5882A>G p.N1961S Missense 39/78 - 3
8-110460479-G-A c.5884G>A p.D1962N Missense 39/78 - 2
8-110460481-T-C c.5886T>C p.D1962= Synonymous 39/78 - 1
8-110460488-G-C c.5893G>C p.V1965L Missense 39/78 - 5
8-110460488-G-T c.5893G>T p.V1965L Missense 39/78 - 33
8-110460490-G-A c.5895G>A p.V1965= Synonymous 39/78 - 2
8-110460490-G-C c.5895G>C p.V1965= Synonymous 39/78 - 2
8-110460490-G-T c.5895G>T p.V1965= Synonymous 39/78 - 2
8-110460495-G-A c.5900G>A p.C1967Y Missense 39/78 - 1
8-110460499-C-G c.5904C>G p.I1968M Missense 39/78 - 2
8-110460499-C-T c.5904C>T p.I1968= Synonymous 39/78 - 2
8-110460503-G-A c.5908G>A p.G1970R Missense 39/78 - 1
8-110460504-G-A c.5909G>A p.G1970E Missense 39/78 - 4
8-110460508-T-A c.5913T>A p.D1971E Missense 39/78 - 1
8-110460509-C-T c.5914C>T p.H1972Y Missense 39/78 - 4
8-110460513-C-T c.5918C>T p.A1973V Missense 39/78 - 1
8-110460518-G-A c.5923G>A p.G1975S Missense 39/78 - 2
8-110460519-G-C c.5924G>C p.G1975A Missense 39/78 - 2
8-110460527-C-T c.5932C>T p.P1978S Missense 39/78 - 4
8-110460528-C-T c.5933C>T p.P1978L Missense 39/78 - 1
8-110460530-G-T c.5935G>T p.V1979F Missense 39/78 - 2
8-110460533-A-C c.5938A>C p.M1980L Missense 39/78 - 1
8-110460533-A-T c.5938A>T p.M1980L Missense 39/78 - 1
8-110460534-T-C c.5939T>C p.M1980T Missense 39/78 - 1
8-110460535-G-A c.5940G>A p.M1980I Missense 39/78 - 1
8-110460535-G-C c.5940G>C p.M1980I Missense 39/78 - 1
8-110460535-G-T c.5940G>T p.M1980I Missense 39/78 - 1
8-110460542-C-A c.5947C>A p.H1983N Missense 39/78 - 1
8-110460542-C-T c.5947C>T p.H1983Y Missense 39/78 - 4
8-110460546-A-T c.5951A>T p.K1984M Missense 39/78 - 1
8-110460547-AG-A c.5952del p.T1985Qfs*33 Frameshift 39/78 - 1
8-110460554-G-A c.5959G>A p.G1987S Missense 39/78 - 2
8-110460555-GC-AG c.5960_5961delinsAG p.G1987E Missense 39/78 - 1
8-110460558-C-G c.5963C>G p.S1988* Nonsense 39/78 - 1
8-110460560-G-T c.5965G>T p.A1989S Missense 39/78 - 3
8-110460561-C-T c.5966C>T p.A1989V Missense 39/78 - 4
8-110460567-C-G c.5972C>G p.S1991C Missense 39/78 - 1
8-110460568-C-T c.5973C>T p.S1991= Synonymous 39/78 - 1
8-110460571-A-C c.5976A>C p.T1992= Synonymous 39/78 - 1
8-110460571-A-G c.5976A>G p.T1992= Synonymous 39/78 - 1
8-110460571-A-T c.5976A>T p.T1992= Synonymous 39/78 - 1
8-110460573-T-C c.5978T>C p.V1993A Missense 39/78 - 4
8-110460575-G-C c.5980G>C p.V1994L Missense 39/78 - 2
8-110460575-G-T c.5980G>T p.V1994L Missense 39/78 - 1
8-110460576-GT-G c.5981del p.V1994Dfs*24 Frameshift 39/78 - 1
8-110460576-T-G c.5981T>G p.V1994G Missense 39/78 - 1
8-110460581-G-C c.5986G>C p.E1996Q Missense 39/78 - 1
8-110460586-C-T c.5991C>T p.Y1997= Synonymous 39/78 - 1
8-110460587-C-T c.5992C>T p.P1998S Missense 39/78 - 2
8-110460588-C-T c.5993C>T p.P1998L Missense 39/78 - 1
8-110460589-G-T c.5994G>T p.P1998= Synonymous 39/78 - 1
8-110460591-T-A c.5996T>A p.L1999H Missense 39/78 - 1
8-110460594-A-C c.5999A>C p.N2000T Missense 39/78 - 2
8-110460595-T-C c.6000T>C p.N2000= Synonymous 39/78 - 1
8-110460603-A-G c.6008A>G p.N2003S Missense 39/78 - 3
8-110460606-T-C c.6011T>C p.I2004T Missense 39/78 - 1
8-110460608-A-T c.6013A>T p.N2005Y Missense 39/78 - 4
8-110460611-C-A c.6016C>A p.P2006T Missense 39/78 - 1
8-110460612-C-T c.6017C>T p.P2006L Missense 39/78 - 1
8-110460613-A-C c.6018A>C p.P2006= Synonymous 39/78 - 1
8-110460613-A-G c.6018A>G p.P2006= Synonymous 39/78 - 1
8-110460613-A-T c.6018A>T p.P2006= Synonymous 39/78 - 1
8-110460615-G-C c.6020G>C p.S2007T Missense 39/78 - 1
8-110460620-G-T c.6025G>T p.G2009W Missense 39/78 - 1
8-110460728-G-T c.6025+108G>T - IntronicSNV - 39/77 5
8-110461518-A-G c.6026-49A>G - IntronicSNV - 39/77 4
8-110461567-G-A c.6026G>A p.G2009E Missense 40/78 - 1
8-110461569-AG-CT c.6028_6029inv p.S2010L Missense 40/78 - 1
8-110461570-G-T c.6029G>T p.S2010I Missense 40/78 - 3
8-110461569-A-C c.6028A>C p.S2010R Missense 40/78 - 1
8-110461571-C-A c.6030C>A p.S2010R Missense 40/78 - 1
8-110461571-C-G c.6030C>G p.S2010R Missense 40/78 - 1
8-110461575-GG-AC c.6034_6035delinsAC p.G2012T Missense 40/78 - 1
8-110461577-TG-T c.6041del p.G2014Vfs*4 Frameshift 40/78 - 1
8-110461582-G-A c.6041G>A p.G2014D Missense 40/78 - 2
8-110461583-T-TC c.6043dup p.Q2015Pfs*11 Frameshift 40/78 - 1
8-110461586-A-C c.6045A>C p.Q2015H Missense 40/78 - 1
8-110461586-A-T c.6045A>T p.Q2015H Missense 40/78 - 1
8-110461602-G-C c.6061G>C p.G2021R Missense 40/78 - 1
8-110461603-GC-AG c.6062_6063delinsAG p.G2021E Missense 40/78 - 1
8-110461606-C-T c.6065C>T p.T2022I Missense 40/78 - 1
8-110461607-C-A c.6066C>A p.T2022= Synonymous 40/78 - 1
8-110461607-C-G c.6066C>G p.T2022= Synonymous 40/78 - 1
8-110461607-C-T c.6066C>T p.T2022= Synonymous 40/78 - 2
8-110461608-G-A c.6067G>A p.G2023R Missense 40/78 - 2
8-110461608-G-C c.6067G>C p.G2023R Missense 40/78 - 1
8-110461609-G-T c.6068G>T p.G2023V Missense 40/78 - 1
8-110461615-A-T c.6074A>T p.N2025I Missense 40/78 - 1
8-110461616-TC-T c.6077del p.P2026Hfs*7 Frameshift 40/78 - 1
8-110461618-C-T c.6077C>T p.P2026L Missense 40/78 - 1
8-110461620-C-T c.6079C>T p.Q2027* Nonsense 40/78 - 1
8-110461627-C-T c.6086C>T p.S2029L Missense 40/78 - 5
8-110461632-A-C c.6091A>C p.I2031L Missense 40/78 - 1
8-110461632-A-T c.6091A>T p.I2031L Missense 40/78 - 1
8-110461642-G-A c.6101G>A p.C2034Y Missense 40/78 - 1
8-110461643-T-A c.6102T>A p.C2034* Nonsense 40/78 - 1
8-110461643-T-G c.6102T>G p.C2034W Missense 40/78 - 3
8-110461648-C-T c.6107C>T p.S2036L Missense 40/78 - 1
8-110461656-G-T c.6115G>T p.A2039S Missense 40/78 - 1
8-110461662-G-A c.6121G>A p.D2041N Missense 40/78 - 1
8-110461664-C-A c.6123C>A p.D2041E Missense 40/78 - 1
8-110461666-G-A c.6125G>A p.R2042K Missense 40/78 - 1
8-110461668-C-A c.6127C>A p.L2043I Missense 40/78 - 1
8-110461668-C-T c.6127C>T p.L2043F Missense 40/78 - 1
8-110461669-T-A c.6128T>A p.L2043H Missense 40/78 - 4
8-110461670-T-A c.6129T>A p.L2043= Synonymous 40/78 - 1
8-110461670-T-C c.6129T>C p.L2043= Synonymous 40/78 - 1
8-110461670-T-G c.6129T>G p.L2043= Synonymous 40/78 - 1
8-110461671-AGA-TGG c.6130_6132delinsTGG p.R2044W Missense 40/78 - 1
8-110461681-A-C c.6140A>C p.Y2047S Missense 40/78 - 9
8-110461684-C-A c.6143C>A p.T2048K Missense 40/78 - 3
8-110461684-C-T c.6143C>T p.T2048I Missense 40/78 - 1
8-110461685-A-C c.6144A>C p.T2048= Synonymous 40/78 - 1
8-110461685-A-G c.6144A>G p.T2048= Synonymous 40/78 - 1
8-110461685-A-T c.6144A>T p.T2048= Synonymous 40/78 - 1
8-110461698-G-A c.6157G>A p.E2053K Missense 40/78 - 4
8-110461704-C-A c.6163C>A p.P2055T Missense 40/78 - 1
8-110461705-C-G c.6164C>G p.P2055R Missense 40/78 - 1
8-110461705-C-T c.6164C>T p.P2055L Missense 40/78 - 1
8-110461710-A-G c.6169A>G p.N2057D Missense 40/78 - 3
8-110463207-C-T c.6179C>T p.T2060M Missense 41/78 - 1
8-110463208-G-A c.6180G>A p.T2060= Synonymous 41/78 - 1
8-110463209-G-A c.6181G>A p.G2061R Missense 41/78 - 1
8-110463209-G-C c.6181G>C p.G2061R Missense 41/78 - 1
8-110463209-GGA-TGT c.6181_6183delinsTGT p.G2061C Missense 41/78 - 1
8-110463209-G-T c.6181G>T p.G2061* Nonsense 41/78 - 1
8-110463210-G-A c.6182G>A p.G2061E Missense 41/78 - 1
8-110463211-A-C c.6183A>C p.G2061= Synonymous 41/78 - 1
8-110463211-A-G c.6183A>G p.G2061= Synonymous 41/78 - 1
8-110463211-A-T c.6183A>T p.G2061= Synonymous 41/78 - 1
8-110463218-C-A c.6190C>A p.Q2064K Missense 41/78 - 1
8-110463232-G-T c.6204G>T p.V2068= Synonymous 41/78 - 1
8-110463234-G-A c.6206G>A p.S2069N Missense 41/78 - 1
8-110463245-G-A c.6217G>A p.G2073R Missense 41/78 - 2
8-110463245-G-C c.6217G>C p.G2073R Missense 41/78 - 1
8-110463246-G-A c.6218G>A p.G2073E Missense 41/78 - 1
8-110463249-A-G c.6221A>G p.K2074R Missense 41/78 - 6
8-110463251-G-T c.6223G>T p.D2075Y Missense 41/78 - 1
8-110463254-T-G c.6226T>G p.L2076V Missense 41/78 - 1
8-110463258-C-A c.6230C>A p.S2077* Nonsense 41/78 - 1
8-110463260-C-T c.6232C>T p.Q2078* Nonsense 41/78 - 1
8-110463261-A-G c.6233A>G p.Q2078R Missense 41/78 - 1
8-110463270-C-T c.6242C>T p.T2081I Missense 41/78 - 1
8-110463272-C-T c.6244C>T p.P2082S Missense 41/78 - 5
8-110463284-G-A c.6256G>A p.A2086T Missense 41/78 - 2
8-110463293-ACT-A c.6265_6266del p.L2089Dfs*10 Frameshift 41/78 - 4
8-110463299-C-A c.6271C>A p.P2091T Missense 41/78 - 3
8-110463300-C-A c.6272C>A p.P2091Q Missense 41/78 - 1
8-110463305-A-C c.6277A>C p.I2093L Missense 41/78 - 1
8-110463324-A-C c.6296A>C p.K2099T Missense 41/78 - 1
8-110463327-G-C c.6299G>C p.R2100T Missense 41/78 - 1
8-110463333-G-A c.6305G>A p.S2102N Missense 41/78 - 1
8-110463343-G-A c.6315G>A p.G2105= Synonymous 41/78 - 1
8-110463340-AG-A c.6317del p.G2106Afs*4 Frameshift 41/78 - 1
8-110463350-A-AG c.6323dup p.L2109Tfs*10 Frameshift 41/78 - 1
8-110463357-C-T c.6329C>T p.T2110I Missense 41/78 - 2
8-110463361-C-T c.6333C>T p.V2111= Synonymous 41/78 - 1
8-110463364-G-A c.6336G>A p.V2112= Synonymous 41/78 - 1
8-110463364-G-C c.6336G>C p.V2112= Synonymous 41/78 - 2
8-110463364-G-T c.6336G>T p.V2112= Synonymous 41/78 - 1
8-110463366-G-T c.6338G>T p.G2113V Missense 41/78 - 1
8-110463369-C-T c.6341C>T p.S2114L Missense 41/78 - 2
8-110463371-G-A c.6343G>A p.G2115R Missense 41/78 - 2
8-110463372-G-A c.6344G>A p.G2115E Missense 41/78 - 2
8-110463372-G-C c.6344G>C p.G2115A Missense 41/78 - 1
8-110463374-T-A c.6346T>A p.F2116I Missense 41/78 - 3
8-110463374-T-C c.6346T>C p.F2116L Missense 41/78 - 1
8-110463376-C-A c.6348C>A p.F2116L Missense 41/78 - 1
8-110463376-C-G c.6348C>G p.F2116L Missense 41/78 - 1
8-110463858-A-G c.6350+480A>G - IntronicSNV - 41/77 1
8-110464356-A-T c.6354A>T p.E2118D Missense 42/78 - 1
8-110464363-G-A c.6361G>A p.E2121K Missense 42/78 - 1
8-110464366-G-C c.6364G>C p.D2122H Missense 42/78 - 1
8-110464370-T-C c.6368T>C p.V2123A Missense 42/78 - 1
8-110464372-C-T c.6370C>T p.H2124Y Missense 42/78 - 3
8-110464377-C-T c.6375C>T p.I2125= Synonymous 42/78 - 1
8-110464382-T-C c.6380T>C p.I2127T Missense 42/78 - 1
8-110464385-C-T c.6383C>T p.A2128V Missense 42/78 - 4
8-110464387-G-A c.6385G>A p.E2129K Missense 42/78 - 4
8-110464390-G-A c.6388G>A p.A2130T Missense 42/78 - 2
8-110464392-C-A c.6390C>A p.A2130= Synonymous 42/78 - 2
8-110464392-C-G c.6390C>G p.A2130= Synonymous 42/78 - 2
8-110464392-C-T c.6390C>T p.A2130= Synonymous 42/78 - 2
8-110464408-T-G c.6406T>G p.Y2136D Missense 42/78 - 1
8-110464409-A-G c.6407A>G p.Y2136C Missense 42/78 - 1
8-110464412-C-A c.6410C>A p.S2137Y Missense 42/78 - 1
8-110464413-C-T c.6411C>T p.S2137= Synonymous 42/78 - 2
8-110464415-A-G c.6413A>G p.N2138S Missense 42/78 - 1
8-110464421-C-A c.6419C>A p.T2140K Missense 42/78 - 1
8-110464424-A-G c.6422A>G p.H2141R Missense 42/78 - 1
8-110464427-T-C c.6425T>C p.I2142T Missense 42/78 - 1
8-110464429-A-G c.6427A>G p.I2143V Missense 42/78 - 1
8-110464431-C-G c.6429C>G p.I2143M Missense 42/78 - 1
8-110464437-G-A c.6435G>A p.M2145I Missense 42/78 - 3
8-110464437-G-C c.6435G>C p.M2145I Missense 42/78 - 2
8-110464437-G-T c.6435G>T p.M2145I Missense 42/78 - 2
8-110464441-G-A c.6439G>A p.D2147N Missense 42/78 - 2
8-110464444-G-T c.6442G>T p.A2148S Missense 42/78 - 1
8-110464445-C-A c.6443C>A p.A2148D Missense 42/78 - 1
8-110464447-C-A c.6445C>A p.H2149N Missense 42/78 - 1
8-110464447-C-T c.6445C>T p.H2149Y Missense 42/78 - 2
8-110464451-C-T c.6449C>T p.T2150I Missense 42/78 - 1
8-110464452-T-G c.6450T>G p.T2150= Synonymous 42/78 - 1
8-110464453-C-G c.6451C>G p.L2151V Missense 42/78 - 1
8-110464453-C-T c.6451C>T p.L2151= Synonymous 42/78 - 1
8-110464457-C-A c.6455C>A p.S2152* Nonsense 42/78 - 1
8-110464457-C-G c.6455C>G p.S2152* Nonsense 42/78 - 1
8-110464459-G-A c.6457G>A p.G2153R Missense 42/78 - 1
8-110464459-G-C c.6457G>C p.G2153R Missense 42/78 - 1
8-110464461-G-A c.6459G>A p.G2153= Synonymous 42/78 - 2
8-110464461-G-C c.6459G>C p.G2153= Synonymous 42/78 - 2
8-110464461-G-T c.6459G>T p.G2153= Synonymous 42/78 - 2
8-110464469-C-T c.6467C>T p.P2156L Missense 42/78 - 1
8-110464466-CTCCAGTTTGTG-C c.6469_6479del p.V2157Hfs*11 Frameshift 42/78 - 1
8-110464472-T-C c.6470T>C p.V2157A Missense 42/78 - 1
8-110464473-T-A c.6471T>A p.V2157= Synonymous 42/78 - 1
8-110464476-T-A c.6474T>A p.C2158* Nonsense 42/78 - 1
8-110464477-G-T c.6475G>T p.V2159F Missense 42/78 - 1
8-110464480-C-T c.6478C>T p.H2160Y Missense 42/78 - 4
8-110464484-T-A c.6482T>A p.I2161N Missense 42/78 - 2
8-110464485-C-A c.6483C>A p.I2161= Synonymous 42/78 - 1
8-110464485-C-T c.6483C>T p.I2161= Synonymous 42/78 - 1
8-110464486-AGA-TGT c.6484_6486delinsTGT p.R2162C Missense 42/78 - 1
8-110464487-G-T c.6485G>T p.R2162I Missense 42/78 - 1
8-110464494-C-A c.6492C>A p.V2164= Synonymous 42/78 - 1
8-110464494-C-G c.6492C>G p.V2164= Synonymous 42/78 - 1
8-110464494-C-T c.6492C>T p.V2164= Synonymous 42/78 - 1
8-110464500-G-T c.6498G>T p.M2166I Missense 42/78 - 1
8-110464502-C-T c.6500C>T p.A2167V Missense 42/78 - 1
8-110464510-G-A c.6507+1G>A - IntronicSNV - 42/77 5
8-110464554-G-A c.6507+45G>A - IntronicSNV - 42/77 1
8-110464823-T-G c.6508-124T>G - IntronicSNV - 42/77 1
8-110464889-C-T c.6508-58C>T - IntronicSNV - 42/77 1
8-110464947-G-A c.6508G>A p.D2170N Missense 43/78 - 1
8-110464955-T-A c.6516T>A p.A2172= Synonymous 43/78 - 1
8-110464955-T-C c.6516T>C p.A2172= Synonymous 43/78 - 1
8-110464955-T-G c.6516T>G p.A2172= Synonymous 43/78 - 1
8-110464956-G-A c.6517G>A p.D2173N Missense 43/78 - 1
8-110464958-C-T c.6519C>T p.D2173= Synonymous 43/78 - 1
8-110464962-C-T c.6523C>T p.L2175F Missense 43/78 - 4
8-110464968-TG-T c.6529del p.V2177Lfs*39 Frameshift 43/78 - 1
8-110464976-C-G c.6537C>G p.A2179= Synonymous 43/78 - 2
8-110464977-T-A c.6538T>A p.W2180R Missense 43/78 - 1
8-110464977-T-C c.6538T>C p.W2180R Missense 43/78 - 1
8-110464979-G-T c.6540G>T p.W2180C Missense 43/78 - 1
8-110464981-C-T c.6542C>T p.S2181F Missense 43/78 - 4
8-110464989-T-G c.6550T>G p.F2184V Missense 43/78 - 1
8-110464991-C-T c.6552C>T p.F2184= Synonymous 43/78 - 2
8-110464993-C-A c.6554C>A p.S2185* Nonsense 43/78 - 1
8-110464993-C-G c.6554C>G p.S2185* Nonsense 43/78 - 1
8-110464995-T-C c.6556T>C p.W2186R Missense 43/78 - 1
8-110464997-G-A c.6558G>A p.W2186* Nonsense 43/78 - 1
8-110464998-G-T c.6559G>T p.G2187W Missense 43/78 - 2
8-110464999-G-A c.6560G>A p.G2187E Missense 43/78 - 2
8-110465001-G-A c.6562G>A p.G2188R Missense 43/78 - 3
8-110465001-G-C c.6562G>C p.G2188R Missense 43/78 - 2
8-110464995-TG-T c.6563del p.G2188Efs*28 Frameshift 43/78 - 5
8-110464995-T-TG c.6563dup p.S2190Ifs*39 Frameshift 43/78 - 1
8-110465002-G-A c.6563G>A p.G2188E Missense 43/78 - 10
8-110465003-A-C c.6564A>C p.G2188= Synonymous 43/78 - 3
8-110465003-A-G c.6564A>G p.G2188= Synonymous 43/78 - 8
8-110465003-A-T c.6564A>T p.G2188= Synonymous 43/78 - 2
8-110465002-GA-G c.6567del p.K2189Nfs*27 Frameshift 43/78 - 3
8-110465006-A-C c.6567A>C p.K2189N Missense 43/78 - 1
8-110465006-A-T c.6567A>T p.K2189N Missense 43/78 - 1
8-110465010-C-T c.6571C>T p.P2191S Missense 43/78 - 4
8-110465013-C-T c.6574C>T p.P2192S Missense 43/78 - 1
8-110465014-C-T c.6575C>T p.P2192L Missense 43/78 - 1
8-110465016-G-A c.6577G>A p.E2193K Missense 43/78 - 1
8-110465019-G-A c.6580G>A p.E2194K Missense 43/78 - 2
8-110465020-A-T c.6581A>T p.E2194V Missense 43/78 - 2
8-110465022-G-A c.6583G>A p.G2195R Missense 43/78 - 1
8-110465023-G-A c.6584G>A p.G2195E Missense 43/78 - 2
8-110465026-C-A c.6587C>A p.S2196Y Missense 43/78 - 2
8-110465026-C-T c.6587C>T p.S2196F Missense 43/78 - 1
8-110465028-C-T c.6589C>T p.L2197F Missense 43/78 - 2
8-110465031-G-A c.6592G>A p.V2198I Missense 43/78 - 2
8-110465032-T-G c.6593T>G p.V2198G Missense 43/78 - 1
8-110465038-T-G c.6599T>G p.I2200S Missense 43/78 - 1
8-110465046-G-A c.6607G>A p.G2203R Missense 43/78 - 1
8-110465046-G-C c.6607G>C p.G2203R Missense 43/78 - 1
8-110465047-G-A c.6608G>A p.G2203E Missense 43/78 - 3
8-110465053-C-A c.6614C>A p.T2205N Missense 43/78 - 2
8-110465058-C-A c.6619C>A p.L2207M Missense 43/78 - 1
8-110465058-C-T c.6619C>T p.L2207= Synonymous 43/78 - 2
8-110465060-G-A c.6621G>A p.L2207= Synonymous 43/78 - 2
8-110465060-G-C c.6621G>C p.L2207= Synonymous 43/78 - 19
8-110465060-G-T c.6621G>T p.L2207= Synonymous 43/78 - 17
8-110465061-C-T c.6622C>T p.L2208= Synonymous 43/78 - 2
8-110465066-T-A c.6627T>A p.D2209E Missense 43/78 - 2
8-110465066-T-C c.6627T>C p.D2209= Synonymous 43/78 - 2
8-110465067-C-T c.6628C>T p.Q2210* Nonsense 43/78 - 3
8-110465071-G-A c.6632G>A p.S2211N Missense 43/78 - 3
8-110465073-A-G c.6634A>G p.T2212A Missense 43/78 - 1
8-110465077-C-T c.6638C>T p.P2213L Missense 43/78 - 1
8-110465085-A-T c.6646A>T p.K2216* Nonsense 43/78 - 2
8-110465090-G-A c.6651G>A p.M2217I Missense 43/78 - 1
8-110465090-G-C c.6651G>C p.M2217I Missense 43/78 - 1
8-110465090-G-T c.6651G>T p.M2217I Missense 43/78 - 1
8-110465095-T-C c.6656T>C p.L2219P Missense 43/78 - 3
8-110465097-A-G c.6658A>G p.I2220V Missense 43/78 - 1
8-110465102-G-A c.6663G>A p.Q2221= Synonymous 43/78 - 1
8-110466399-G-C c.6668G>C p.G2223A Missense 44/78 - 1
8-110466405-T-C c.6674T>C p.L2225P Missense 44/78 - 1
8-110466408-T-C c.6677T>C p.I2226T Missense 44/78 - 1
8-110466420-C-T c.6689C>T p.A2230V Missense 44/78 - 2
8-110466422-G-C c.6691G>C p.D2231H Missense 44/78 - 1
8-110466431-C-T c.6700C>T p.L2234F Missense 44/78 - 1
8-110466441-A-C c.6710A>C p.E2237A Missense 44/78 - 1
8-110466446-A-T c.6715A>T p.I2239F Missense 44/78 - 2
8-110466450-T-A c.6719T>A p.L2240Q Missense 44/78 - 2
8-110466456-C-T c.6725C>T p.T2242I Missense 44/78 - 1
8-110466459-A-T c.6728A>T p.D2243V Missense 44/78 - 1
8-110466461-G-A c.6730G>A p.G2244R Missense 44/78 - 2
8-110466464-G-A c.6733G>A p.G2245S Missense 44/78 - 1
8-110466465-G-T c.6734G>T p.G2245V Missense 44/78 - 1
8-110466466-T-A c.6735T>A p.G2245= Synonymous 44/78 - 1
8-110466466-T-C c.6735T>C p.G2245= Synonymous 44/78 - 1
8-110466466-T-G c.6735T>G p.G2245= Synonymous 44/78 - 1
8-110466467-G-T c.6736G>T p.V2246F Missense 44/78 - 1
8-110466470-C-A c.6739C>A p.L2247I Missense 44/78 - 1
8-110466470-C-T c.6739C>T p.L2247F Missense 44/78 - 1
8-110466484-A-T c.6744+9A>T - IntronicSNV - 44/77 1
8-110466953-T-A c.6746T>A p.I2249N Missense 45/78 - 4
8-110466956-G-T c.6749G>T p.G2250V Missense 45/78 - 1
8-110466961-G-A c.6754G>A p.E2252K Missense 45/78 - 1
8-110466963-G-A c.6756G>A p.E2252= Synonymous 45/78 - 1
8-110466963-G-C c.6756G>C p.E2252D Missense 45/78 - 1
8-110466963-G-T c.6756G>T p.E2252D Missense 45/78 - 2
8-110466969-C-A c.6762C>A p.S2254= Synonymous 45/78 - 1
8-110466969-C-G c.6762C>G p.S2254= Synonymous 45/78 - 1
8-110466969-C-T c.6762C>T p.S2254= Synonymous 45/78 - 2
8-110466970-C-T c.6763C>T p.P2255S Missense 45/78 - 1
8-110466971-C-T c.6764C>T p.P2255L Missense 45/78 - 1
8-110466975-C-A c.6768C>A p.F2256L Missense 45/78 - 6
8-110466976-C-A c.6769C>A p.Q2257K Missense 45/78 - 1
8-110466977-A-C c.6770A>C p.Q2257P Missense 45/78 - 1
8-110466981-C-A c.6774C>A p.H2258Q Missense 45/78 - 1
8-110466981-C-T c.6774C>T p.H2258= Synonymous 45/78 - 1
8-110466984-G-C c.6777G>C p.K2259N Missense 45/78 - 1
8-110466984-G-T c.6777G>T p.K2259N Missense 45/78 - 1
8-110466986-C-T c.6779C>T p.A2260V Missense 45/78 - 4
8-110466988-G-A c.6781G>A p.V2261I Missense 45/78 - 2
8-110466991-A-G c.6784A>G p.I2262V Missense 45/78 - 1
8-110467009-C-T c.6802C>T p.L2268= Synonymous 45/78 - 1
8-110467012-C-T c.6805C>T p.R2269* Nonsense 45/78 - 1
8-110467013-G-A c.6806G>A p.R2269Q Missense 45/78 - 10
8-110467013-G-C c.6806G>C p.R2269P Missense 45/78 - 1
8-110467019-C-T c.6812C>T p.P2271L Missense 45/78 - 2
8-110467021-G-A c.6814G>A p.E2272K Missense 45/78 - 2
8-110467023-G-A c.6816G>A p.E2272= Synonymous 45/78 - 1
8-110467027-C-T c.6820C>T p.P2274S Missense 45/78 - 2
8-110467028-C-T c.6821C>T p.P2274L Missense 45/78 - 1
8-110467029-T-A c.6822T>A p.P2274= Synonymous 45/78 - 3
8-110467029-T-C c.6822T>C p.P2274= Synonymous 45/78 - 3
8-110467029-T-G c.6822T>G p.P2274= Synonymous 45/78 - 3
8-110467032-C-T c.6825C>T p.V2275= Synonymous 45/78 - 1
8-110467035-T-C c.6828T>C p.Y2276= Synonymous 45/78 - 2
8-110467039-G-A c.6832G>A p.A2278T Missense 45/78 - 1
8-110467046-C-T c.6839C>T p.T2280I Missense 45/78 - 1
8-110467052-C-T c.6845C>T p.A2282V Missense 45/78 - 1
8-110467058-G-A c.6851G>A p.R2284Q Missense 45/78 - 2
8-110467059-G-A c.6852G>A p.R2284= Synonymous 45/78 - 1
8-110467059-G-GT c.6852_6853insT p.E2285* Nonsense 45/78 - 2
8-110467060-G-A c.6853G>A p.E2285K Missense 45/78 - 2
8-110467060-G-GA c.6854dup p.I2287Nfs*40 Frameshift 45/78 - 4
8-110467061-A-G c.6854A>G p.E2285G Missense 45/78 - 1
8-110467063-G-T c.6856G>T p.G2286* Nonsense 45/78 - 1
8-110467064-G-A c.6857G>A p.G2286E Missense 45/78 - 5
8-110467068-C-T c.6861C>T p.I2287= Synonymous 45/78 - 4
8-110467069-C-T c.6862C>T p.L2288= Synonymous 45/78 - 2
8-110467071-G-A c.6864G>A p.L2288= Synonymous 45/78 - 1
8-110467072-G-A c.6865G>A p.D2289N Missense 45/78 - 1
8-110467081-G-A c.6874G>A p.G2292S Missense 45/78 - 2
8-110467081-G-T c.6874G>T p.G2292C Missense 45/78 - 1
8-110468076-A-AAT c.6875-405_6875-404dup - IntronicInsertion - 45/77 1
8-110468491-G-C c.6875G>C p.G2292A Missense 46/78 - 2
8-110468493-G-A c.6877G>A p.V2293M Missense 46/78 - 2
8-110468499-G-A c.6883G>A p.V2295I Missense 46/78 - 1
8-110468508-AC-GG c.6892_6893delinsGG p.T2298G Missense 46/78 - 1
8-110468513-G-A c.6897G>A p.W2299* Nonsense 46/78 - 1
8-110468513-G-C c.6897G>C p.W2299C Missense 46/78 - 1
8-110468513-G-T c.6897G>T p.W2299C Missense 46/78 - 1
8-110468517-C-T c.6901C>T p.R2301C Missense 46/78 - 5
8-110468518-G-A c.6902G>A p.R2301H Missense 46/78 - 2
8-110468519-C-T c.6903C>T p.R2301= Synonymous 46/78 - 1
8-110468522-G-C c.6906G>C p.L2302F Missense 46/78 - 1
8-110468522-G-T c.6906G>T p.L2302F Missense 46/78 - 2
8-110468533-C-T c.6917C>T p.A2306V Missense 46/78 - 1
8-110468542-G-A c.6926G>A p.G2309E Missense 46/78 - 2
8-110468542-G-T c.6926G>T p.G2309V Missense 46/78 - 1
8-110468543-G-A c.6927G>A p.G2309= Synonymous 46/78 - 1
8-110468543-GG-AA c.6927_6928delinsAA p.E2310K Missense 46/78 - 1
8-110468544-G-A c.6928G>A p.E2310K Missense 46/78 - 4
8-110468548-G-T c.6932G>T p.R2311I Missense 46/78 - 4
8-110468553-T-A c.6937T>A p.L2313I Missense 46/78 - 2
8-110468560-T-G c.6944T>G p.L2315* Nonsense 46/78 - 2
8-110468568-G-T c.6952G>T p.A2318S Missense 46/78 - 1
8-110468571-G-A c.6955G>A p.V2319I Missense 46/78 - 1
8-110468578-G-A c.6962G>A p.W2321* Nonsense 46/78 - 3
8-110468579-G-A c.6963G>A p.W2321* Nonsense 46/78 - 4
8-110468595-A-G c.6979A>G p.I2327V Missense 46/78 - 1
8-110468604-G-C c.6988G>C p.A2330P Missense 46/78 - 1
8-110468610-A-G c.6994A>G p.T2332A Missense 46/78 - 1
8-110468612-A-C c.6996A>C p.T2332= Synonymous 46/78 - 1
8-110468612-A-G c.6996A>G p.T2332= Synonymous 46/78 - 1
8-110468612-A-T c.6996A>T p.T2332= Synonymous 46/78 - 1
8-110468613-G-A c.6997G>A p.G2333R Missense 46/78 - 1
8-110468614-G-T c.6998G>T p.G2333V Missense 46/78 - 2
8-110471796-T-A c.7005-28T>A - IntronicSNV - 46/77 1
8-110471796-T-C c.7005-28T>C - IntronicSNV - 46/77 1
8-110471800-A-T c.7005-24A>T - IntronicSNV - 46/77 2
8-110471825-C-G c.7006C>G p.H2336D Missense 47/78 - 1
8-110471831-C-T c.7012C>T p.Q2338* Nonsense 47/78 - 1
8-110471834-G-T c.7015G>T p.G2339* Nonsense 47/78 - 2
8-110471836-A-C c.7017A>C p.G2339= Synonymous 47/78 - 1
8-110471836-A-G c.7017A>G p.G2339= Synonymous 47/78 - 2
8-110471836-A-T c.7017A>T p.G2339= Synonymous 47/78 - 1
8-110471837-G-C c.7018G>C p.E2340Q Missense 47/78 - 1
8-110471843-G-A c.7024G>A p.E2342K Missense 47/78 - 1
8-110471847-A-G c.7028A>G p.K2343R Missense 47/78 - 2
8-110471843-G-GA c.7030dup p.M2344Nfs*9 Frameshift 47/78 - 5
8-110471853-C-T c.7034C>T p.T2345I Missense 47/78 - 1
8-110471854-C-A c.7035C>A p.T2345= Synonymous 47/78 - 1
8-110471854-C-G c.7035C>G p.T2345= Synonymous 47/78 - 1
8-110471854-C-T c.7035C>T p.T2345= Synonymous 47/78 - 1
8-110471858-G-C c.7039G>C p.A2347P Missense 47/78 - 2
8-110471859-C-T c.7040C>T p.A2347V Missense 47/78 - 1
8-110471860-A-C c.7041A>C p.A2347= Synonymous 47/78 - 1
8-110471860-A-G c.7041A>G p.A2347= Synonymous 47/78 - 1
8-110471860-A-T c.7041A>T p.A2347= Synonymous 47/78 - 1
8-110471869-T-A c.7050T>A p.S2350= Synonymous 47/78 - 1
8-110471869-T-C c.7050T>C p.S2350= Synonymous 47/78 - 1
8-110471869-T-G c.7050T>G p.S2350= Synonymous 47/78 - 1
8-110471871-C-A c.7052C>A p.A2351D Missense 47/78 - 1
8-110471882-A-C c.7063A>C p.N2355H Missense 47/78 - 1
8-110471883-A-C c.7064A>C p.N2355T Missense 47/78 - 1
8-110471885-A-G c.7066A>G p.I2356V Missense 47/78 - 1
8-110471895-G-A c.7076G>A p.S2359N Missense 47/78 - 1
8-110471899-C-A c.7080C>A p.N2360K Missense 47/78 - 1
8-110471899-C-G c.7080C>G p.N2360K Missense 47/78 - 1
8-110471904-T-C c.7085T>C p.L2362P Missense 47/78 - 1
8-110471907-A-G c.7088A>G p.N2363S Missense 47/78 - 1
8-110471910-A-G c.7091A>G p.Y2364C Missense 47/78 - 2
8-110471911-C-A c.7092C>A p.Y2364* Nonsense 47/78 - 2
8-110471911-C-G c.7092C>G p.Y2364* Nonsense 47/78 - 1
8-110471913-CA-TG c.7094_7095inv p.T2365M Missense 47/78 - 1
8-110471917-C-A c.7098C>A p.H2366Q Missense 47/78 - 1
8-110471918-T-A c.7099T>A p.L2367I Missense 47/78 - 2
8-110471922-G-A c.7103G>A p.G2368E Missense 47/78 - 2
8-110471928-C-T c.7109C>T p.T2370M Missense 47/78 - 2
8-110471929-G-A c.7110G>A p.T2370= Synonymous 47/78 - 1
8-110471929-G-C c.7110G>C p.T2370= Synonymous 47/78 - 1
8-110471929-G-T c.7110G>T p.T2370= Synonymous 47/78 - 1
8-110471930-G-A c.7111G>A p.V2371I Missense 47/78 - 2
8-110471932-C-A c.7113C>A p.V2371= Synonymous 47/78 - 1
8-110471932-C-G c.7113C>G p.V2371= Synonymous 47/78 - 1
8-110471932-C-T c.7113C>T p.V2371= Synonymous 47/78 - 1
8-110471934-C-A c.7115C>A p.T2372K Missense 47/78 - 1
8-110471939-C-A c.7120C>A p.P2374T Missense 47/78 - 1
8-110471939-C-T c.7120C>T p.P2374S Missense 47/78 - 2
8-110471940-C-A c.7121C>A p.P2374H Missense 47/78 - 1
8-110471942-G-A c.7123G>A p.D2375N Missense 47/78 - 2
8-110471942-G-C c.7123G>C p.D2375H Missense 47/78 - 3
8-110471945-G-A c.7126G>A p.G2376R Missense 47/78 - 1
8-110471945-G-C c.7126G>C p.G2376R Missense 47/78 - 1
8-110471946-G-A c.7127G>A p.G2376E Missense 47/78 - 8
8-110471951-C-T c.7132C>T p.L2378= Synonymous 47/78 - 1
8-110471954-T-C c.7135T>C p.F2379L Missense 47/78 - 3
8-110471956-T-A c.7137T>A p.F2379L Missense 47/78 - 2
8-110471956-T-G c.7137T>G p.F2379L Missense 47/78 - 2
8-110471959-A-C c.7140A>C p.E2380D Missense 47/78 - 2
8-110471959-A-T c.7140A>T p.E2380D Missense 47/78 - 1
8-110471961-C-A c.7142C>A p.A2381E Missense 47/78 - 1
8-110471963-A-T c.7144A>T p.R2382* Nonsense 47/78 - 1
8-110471966-G-T c.7147G>T p.A2383S Missense 47/78 - 1
8-110471967-C-G c.7148C>G p.A2383G Missense 47/78 - 1
8-110471972-G-T c.7153G>T p.V2385F Missense 47/78 - 1
8-110471978-A-C c.7159A>C p.I2387L Missense 47/78 - 1
8-110471981-C-T c.7162C>T p.L2388F Missense 47/78 - 4
8-110471988-G-T c.7169G>T p.R2390I Missense 47/78 - 1
8-110471993-A-T c.7174A>T p.I2392F Missense 47/78 - 1
8-110471994-T-C c.7175T>C p.I2392T Missense 47/78 - 2
8-110471996-T-G c.7177T>G p.L2393V Missense 47/78 - 1
8-110472000-T-C c.7181T>C p.I2394T Missense 47/78 - 1
8-110472002-A-T c.7183A>T p.R2395* Nonsense 47/78 - 1
8-110472003-G-A c.7184G>A p.R2395K Missense 47/78 - 1
8-110472009-C-A c.7190C>A p.S2397Y Missense 47/78 - 1
8-110472009-C-T c.7190C>T p.S2397F Missense 47/78 - 4
8-110472011-G-A c.7192G>A p.D2398N Missense 47/78 - 1
8-110472011-G-C c.7192G>C p.D2398H Missense 47/78 - 1
8-110472014-A-C c.7195A>C p.N2399H Missense 47/78 - 1
8-110472017-G-C c.7198G>C p.V2400L Missense 47/78 - 2
8-110472019-T-G c.7200T>G p.V2400= Synonymous 47/78 - 1
8-110472021-A-G c.7202A>G p.E2401G Missense 47/78 - 1
8-110472021-A-T c.7202A>T p.E2401V Missense 47/78 - 1
8-110472023-T-A c.7204T>A p.W2402R Missense 47/78 - 1
8-110472023-T-C c.7204T>C p.W2402R Missense 47/78 - 3
8-110472024-G-A c.7205G>A p.W2402* Nonsense 47/78 - 3
8-110472025-G-A c.7206G>A p.W2402* Nonsense 47/78 - 1
8-110472026-A-T c.7207A>T p.N2403Y Missense 47/78 - 3
8-110472027-A-G c.7208A>G p.N2403S Missense 47/78 - 2
8-110472029-A-T c.7210A>T p.N2404Y Missense 47/78 - 1
8-110472030-A-C c.7211A>C p.N2404T Missense 47/78 - 2
8-110472035-A-C c.7216A>C p.I2406L Missense 47/78 - 2
8-110472038-C-T c.7219C>T p.P2407S Missense 47/78 - 4
8-110472041-G-A c.7222G>A p.A2408T Missense 47/78 - 1
8-110472044-AT-A c.7225del p.C2409Vfs*24 Frameshift 47/78 - 1
8-110472045-G-T c.7226G>T p.C2409F Missense 47/78 - 1
8-110472062-A-G c.7243A>G p.T2415A Missense 47/78 - 1
8-110472063-C-A c.7244C>A p.T2415K Missense 47/78 - 1
8-110472065-G-A c.7246G>A p.G2416R Missense 47/78 - 1
8-110472066-G-A c.7246+1G>A - IntronicSNV - 47/77 3
8-110472066-G-C c.7246+1G>C - IntronicSNV - 47/77 9
8-110473907-T-A c.7247-94T>A - IntronicSNV - 47/77 3
8-110473907-T-C c.7247-94T>C - IntronicSNV - 47/77 3
8-110473965-A-AC c.7247-36_7247-35insC - IntronicInsertion - 47/77 2
8-110473965-A-AT c.7247-36_7247-35insT - IntronicInsertion - 47/77 2
8-110473965-A-ATT c.7247-36_7247-35insTT - IntronicInsertion - 47/77 2
8-110473965-A-ATTTTTTTTT c.7247-36_7247-35insTTTTTTTTT - IntronicInsertion - 47/77 2
8-110473966-A-C c.7247-35A>C - IntronicSNV - 47/77 2
8-110473966-A-T c.7247-35A>T - IntronicSNV - 47/77 2
8-110474001-G-A c.7247G>A p.G2416E Missense 48/78 - 8
8-110474015-C-A c.7261C>A p.Q2421K Missense 48/78 - 1
8-110474017-G-A c.7263G>A p.Q2421= Synonymous 48/78 - 1
8-110474024-C-T c.7270C>T p.L2424F Missense 48/78 - 4
8-110474025-T-A c.7271T>A p.L2424H Missense 48/78 - 1
8-110474030-G-A c.7276G>A p.G2426R Missense 48/78 - 4
8-110474031-G-A c.7277G>A p.G2426E Missense 48/78 - 4
8-110474034-A-G c.7280A>G p.K2427R Missense 48/78 - 1
8-110474046-A-G c.7292A>G p.E2431G Missense 48/78 - 1
8-110474047-A-C c.7293A>C p.E2431D Missense 48/78 - 1
8-110474047-A-T c.7293A>T p.E2431D Missense 48/78 - 1
8-110474049-T-A c.7295T>A p.I2432K Missense 48/78 - 3
8-110474050-A-G c.7296A>G p.I2432M Missense 48/78 - 2
8-110474052-G-A c.7298G>A p.G2433E Missense 48/78 - 6
8-110474054-A-C c.7300A>C p.S2434R Missense 48/78 - 2
8-110474056-T-A c.7302T>A p.S2434R Missense 48/78 - 2
8-110474056-T-G c.7302T>G p.S2434R Missense 48/78 - 2
8-110474057-G-A c.7303G>A p.D2435N Missense 48/78 - 2
8-110474057-G-T c.7303G>T p.D2435Y Missense 48/78 - 1
8-110474061-A-G c.7307A>G p.Q2436R Missense 48/78 - 1
8-110474067-G-C c.7313G>C p.G2438A Missense 48/78 - 1
8-110474068-A-G c.7314A>G p.G2438= Synonymous 48/78 - 1
8-110474070-G-C c.7316G>C p.G2439A Missense 48/78 - 1
8-110474072-T-C c.7318T>C p.C2440R Missense 48/78 - 1
8-110474073-G-C c.7319G>C p.C2440S Missense 48/78 - 1
8-110474073-G-T c.7319G>T p.C2440F Missense 48/78 - 1
8-110474074-C-T c.7320C>T p.C2440= Synonymous 48/78 - 2
8-110474075-G-T c.7321G>T p.V2441F Missense 48/78 - 1
8-110474083-T-A c.7329T>A p.F2443L Missense 48/78 - 1
8-110474091-C-T c.7337C>T p.P2446L Missense 48/78 - 3
8-110474096-C-A c.7342C>A p.P2448T Missense 48/78 - 1
8-110474102-G-A c.7348G>A p.A2450T Missense 48/78 - 1
8-110474110-G-A c.7356G>A p.M2452I Missense 48/78 - 1
8-110474110-G-C c.7356G>C p.M2452I Missense 48/78 - 1
8-110474110-G-T c.7356G>T p.M2452I Missense 48/78 - 1
8-110474115-C-A c.7361C>A p.T2454N Missense 48/78 - 1
8-110474116-T-C c.7362T>C p.T2454= Synonymous 48/78 - 1
8-110474117-G-A c.7363G>A p.G2455R Missense 48/78 - 1
8-110474117-GGG-TGT c.7363_7365delinsTGT p.G2455C Missense 48/78 - 1
8-110474117-G-T c.7363G>T p.G2455W Missense 48/78 - 1
8-110474119-G-A c.7365G>A p.G2455= Synonymous 48/78 - 2
8-110474119-G-C c.7365G>C p.G2455= Synonymous 48/78 - 2
8-110474119-G-T c.7365G>T p.G2455= Synonymous 48/78 - 2
8-110474121-G-A c.7367G>A p.R2456K Missense 48/78 - 1
8-110474126-G-A c.7372G>A p.E2458K Missense 48/78 - 1
8-110474134-A-C c.7380A>C p.V2460= Synonymous 48/78 - 1
8-110474134-A-G c.7380A>G p.V2460= Synonymous 48/78 - 1
8-110474134-A-T c.7380A>T p.V2460= Synonymous 48/78 - 1
8-110474137-G-A c.7383G>A p.E2461= Synonymous 48/78 - 1
8-110474142-G-A c.7383+5G>A - IntronicSNV - 48/77 1
8-110474184-C-T c.7383+47C>T - IntronicSNV - 48/77 1
8-110476110-A-C c.7384-335A>C - IntronicSNV - 48/77 1
8-110476110-A-T c.7384-335A>T - IntronicSNV - 48/77 1
8-110476451-C-T c.7390C>T p.H2464Y Missense 49/78 - 1
8-110476453-T-C c.7392T>C p.H2464= Synonymous 49/78 - 1
8-110476469-C-T c.7408C>T p.R2470W Missense 49/78 - 2
8-110476475-G-A c.7414G>A p.G2472R Missense 49/78 - 1
8-110476475-G-C c.7414G>C p.G2472R Missense 49/78 - 1
8-110476475-G-T c.7414G>T p.G2472W Missense 49/78 - 1
8-110476478-C-T c.7417C>T p.R2473* Nonsense 49/78 - 4
8-110476479-G-A c.7418G>A p.R2473Q Missense 49/78 - 6
8-110476484-C-T c.7423C>T p.P2475S Missense 49/78 - 1
8-110476485-C-T c.7424C>T p.P2475L Missense 49/78 - 6
8-110476489-A-G c.7428A>G p.I2476M Missense 49/78 - 1
8-110476496-C-T c.7435C>T p.H2479Y Missense 49/78 - 1
8-110476498-C-A c.7437C>A p.H2479Q Missense 49/78 - 2
8-110476498-C-G c.7437C>G p.H2479Q Missense 49/78 - 2
8-110476500-T-C c.7439T>C p.L2480P Missense 49/78 - 1
8-110476501-G-C c.7440G>C p.L2480= Synonymous 49/78 - 1
8-110476502-C-T c.7441C>T p.L2481F Missense 49/78 - 1
8-110476516-G-A c.7455G>A p.Q2485= Synonymous 49/78 - 1
8-110476524-C-A c.7463C>A p.S2488Y Missense 49/78 - 1
8-110476524-C-T c.7463C>T p.S2488F Missense 49/78 - 2
8-110476533-G-A c.7472G>A p.R2491K Missense 49/78 - 2
8-110476533-G-C c.7472G>C p.R2491T Missense 49/78 - 3
8-110476536-G-A c.7475G>A p.G2492D Missense 49/78 - 3
8-110476542-C-T c.7481C>T p.A2494V Missense 49/78 - 1
8-110476547-C-A c.7486C>A p.H2496N Missense 49/78 - 1
8-110476547-C-T c.7486C>T p.H2496Y Missense 49/78 - 2
8-110476550-C-G c.7489C>G p.Q2497E Missense 49/78 - 1
8-110476552-G-C c.7491G>C p.Q2497H Missense 49/78 - 1
8-110476552-GG-AT c.7491_7492delinsAT p.A2498S Missense 49/78 - 1
8-110476553-G-C c.7492G>C p.A2498P Missense 49/78 - 1
8-110476557-A-C c.7496A>C p.Y2499S Missense 49/78 - 1
8-110476568-G-A c.7507G>A p.V2503I Missense 49/78 - 1
8-110476568-G-C c.7507G>C p.V2503L Missense 49/78 - 1
8-110476569-T-C c.7508T>C p.V2503A Missense 49/78 - 1
8-110476579-T-A c.7518T>A p.H2506Q Missense 49/78 - 2
8-110476583-A-G c.7522A>G p.T2508A Missense 49/78 - 1
8-110476583-A-T c.7522A>T p.T2508S Missense 49/78 - 1
8-110476586-C-T c.7525C>T p.H2509Y Missense 49/78 - 3
8-110476589-C-A c.7528C>A p.H2510N Missense 49/78 - 4
8-110476592-C-T c.7531C>T p.L2511F Missense 49/78 - 1
8-110476595-C-A c.7534C>A p.L2512M Missense 49/78 - 2
8-110476604-A-G c.7543A>G p.R2515G Missense 49/78 - 1
8-110476605-G-A c.7544G>A p.R2515K Missense 49/78 - 2
8-110476610-A-G c.7549A>G p.I2517V Missense 49/78 - 2
8-110476613-A-G c.7552A>G p.I2518V Missense 49/78 - 1
8-110476614-T-A c.7553T>A p.I2518K Missense 49/78 - 3
8-110476615-A-G c.7554A>G p.I2518M Missense 49/78 - 3
8-110476619-G-A c.7558G>A p.D2520N Missense 49/78 - 2
8-110476619-G-C c.7558G>C p.D2520H Missense 49/78 - 2
8-110476624-T-A c.7563T>A p.I2521= Synonymous 49/78 - 1
8-110476627-G-A c.7566G>A p.K2522= Synonymous 49/78 - 1
8-110476629-G-A c.7568G>A p.G2523E Missense 49/78 - 2
8-110476632-G-A c.7571G>A p.G2524E Missense 49/78 - 2
8-110476634-G-T c.7573G>T p.A2525S Missense 49/78 - 1
8-110476637-T-C c.7576T>C p.F2526L Missense 49/78 - 2
8-110476639-T-A c.7578T>A p.F2526L Missense 49/78 - 2
8-110476639-T-G c.7578T>G p.F2526L Missense 49/78 - 2
8-110476636-A-AT c.7581dup p.I2528Yfs*6 Frameshift 49/78 - 1
8-110476642-T-C c.7581T>C p.F2527= Synonymous 49/78 - 1
8-110476644-T-C c.7583T>C p.I2528T Missense 49/78 - 1
8-110476644-T-G c.7583T>G p.I2528R Missense 49/78 - 1
8-110476645-A-T c.7584A>T p.I2528= Synonymous 49/78 - 1
8-110476646-G-C c.7585G>C p.E2529Q Missense 49/78 - 1
8-110476649-G-C c.7588G>C p.D2530H Missense 49/78 - 1
8-110476651-T-G c.7590T>G p.D2530E Missense 49/78 - 1
8-110476653-G-C c.7592G>C p.G2531A Missense 49/78 - 1
8-110476656-T-G c.7595T>G p.I2532S Missense 49/78 - 1
8-110476658-G-T c.7597G>T p.E2533* Nonsense 49/78 - 1
8-110476671-T-A c.7610T>A p.I2537N Missense 49/78 - 1
8-110476678-G-T c.7617G>T p.Q2539H Missense 49/78 - 1
8-110476685-T-A c.7624T>A p.L2542M Missense 49/78 - 1
8-110476688-G-A c.7627G>A p.A2543T Missense 49/78 - 1
8-110476693-A-C c.7632A>C p.V2544= Synonymous 49/78 - 1
8-110476695-T-C c.7634T>C p.F2545S Missense 49/78 - 1
8-110476709-A-G c.7648A>G p.T2550A Missense 49/78 - 4
8-110476710-C-A c.7649C>A p.T2550N Missense 49/78 - 1
8-110476711-C-T c.7650C>T p.T2550= Synonymous 49/78 - 1
8-110476717-T-A c.7656T>A p.L2552= Synonymous 49/78 - 1
8-110476718-C-T c.7657C>T p.L2553= Synonymous 49/78 - 3
8-110476720-G-A c.7659G>A p.L2553= Synonymous 49/78 - 5
8-110476720-G-C c.7659G>C p.L2553= Synonymous 49/78 - 3
8-110476720-G-T c.7659G>T p.L2553= Synonymous 49/78 - 3
8-110476724-G-A c.7663G>A p.D2555N Missense 49/78 - 5
8-110476727-G-A c.7666G>A p.D2556N Missense 49/78 - 1
8-110476737-C-T c.7676C>T p.P2559L Missense 49/78 - 1
8-110476738-G-A c.7677G>A p.P2559= Synonymous 49/78 - 1
8-110476739-G-A c.7678G>A p.A2560T Missense 49/78 - 2
8-110476742-G-T c.7681G>T p.A2561S Missense 49/78 - 3
8-110476743-C-T c.7682C>T p.A2561V Missense 49/78 - 2
8-110476745-T-A c.7684T>A p.F2562I Missense 49/78 - 1
8-110476749-G-C c.7688G>C p.W2563S Missense 49/78 - 1
8-110476755-C-T c.7694C>T p.T2565I Missense 49/78 - 1
8-110476758-A-G c.7697A>G p.N2566S Missense 49/78 - 4
8-110476761-C-A c.7700C>A p.P2567Q Missense 49/78 - 2
8-110476762-G-A c.7701G>A p.P2567= Synonymous 49/78 - 3
8-110476762-G-C c.7701G>C p.P2567= Synonymous 49/78 - 1
8-110476762-G-T c.7701G>T p.P2567= Synonymous 49/78 - 1
8-110476764-A-G c.7703A>G p.N2568S Missense 49/78 - 2
8-110476765-C-A c.7704C>A p.N2568K Missense 49/78 - 3
8-110476765-C-G c.7704C>G p.N2568K Missense 49/78 - 2
8-110476770-C-T c.7709C>T p.T2570I Missense 49/78 - 2
8-110476771-C-T c.7710C>T p.T2570= Synonymous 49/78 - 1
8-110476775-C-A c.7714C>A p.R2572= Synonymous 49/78 - 5
8-110476775-C-G c.7714C>G p.R2572G Missense 49/78 - 1
8-110476775-C-T c.7714C>T p.R2572* Nonsense 49/78 - 1
8-110476777-A-C c.7716A>C p.R2572= Synonymous 49/78 - 3
8-110476777-A-G c.7716A>G p.R2572= Synonymous 49/78 - 3
8-110476777-A-T c.7716A>T p.R2572= Synonymous 49/78 - 3
8-110476776-G-A c.7715G>A p.R2572Q Missense 49/78 - 2
8-110476778-C-T c.7717C>T p.H2573Y Missense 49/78 - 1
8-110476784-G-T c.7723G>T p.A2575S Missense 49/78 - 3
8-110476791-C-T c.7730C>T p.A2577V Missense 49/78 - 1
8-110476797-G-T c.7736G>T p.G2579V Missense 49/78 - 1
8-110476801-T-A c.7740T>A p.T2580= Synonymous 49/78 - 1
8-110476801-T-C c.7740T>C p.T2580= Synonymous 49/78 - 1
8-110476801-T-G c.7740T>G p.T2580= Synonymous 49/78 - 1
8-110476802-C-A c.7741C>A p.H2581N Missense 49/78 - 3
8-110476807-T-A c.7746T>A p.F2582L Missense 49/78 - 1
8-110476810-C-T c.7749C>T p.G2583= Synonymous 49/78 - 1
8-110476812-T-A c.7751T>A p.F2584Y Missense 49/78 - 1
8-110476816-G-A c.7755G>A p.W2585* Nonsense 49/78 - 2
8-110476820-C-T c.7759C>T p.R2587W Missense 49/78 - 4
8-110476821-G-A c.7760G>A p.R2587Q Missense 49/78 - 4
8-110476821-G-C c.7760G>C p.R2587P Missense 49/78 - 1
8-110476825-G-A c.7764G>A p.M2588I Missense 49/78 - 3
8-110476827-A-G c.7766A>G p.N2589S Missense 49/78 - 5
8-110476829-A-C c.7768A>C p.N2590H Missense 49/78 - 1
8-110476833-A-C c.7772A>C p.H2591P Missense 49/78 - 1
8-110476833-A-T c.7772A>T p.H2591L Missense 49/78 - 1
8-110476838-G-A c.7777G>A p.D2593N Missense 49/78 - 4
8-110476838-G-C c.7777G>C p.D2593H Missense 49/78 - 3
8-110476839-A-T c.7778A>T p.D2593V Missense 49/78 - 3
8-110476841-G-A c.7780G>A p.G2594R Missense 49/78 - 1
8-110476842-G-C c.7781G>C p.G2594A Missense 49/78 - 1
8-110476845-C-A c.7784C>A p.P2595Q Missense 49/78 - 2
8-110476848-C-G c.7787C>G p.S2596C Missense 49/78 - 1
8-110476853-G-C c.7792G>C p.D2598H Missense 49/78 - 1
8-110476857-G-A c.7796G>A p.R2599K Missense 49/78 - 2
8-110476857-GA-TG c.7796_7797delinsTG p.R2599M Missense 49/78 - 1
8-110476857-G-C c.7796G>C p.R2599T Missense 49/78 - 1
8-110476858-A-C c.7797A>C p.R2599S Missense 49/78 - 1
8-110476858-A-T c.7797A>T p.R2599S Missense 49/78 - 1
8-110476862-A-T c.7801A>T p.I2601F Missense 49/78 - 1
8-110476868-C-CA c.7813dup p.R2605Kfs*9 Frameshift 49/78 - 1
8-110476875-AG-A c.7814del p.R2605Kfs*70 Frameshift 49/78 - 2
8-110476875-G-A c.7814G>A p.R2605K Missense 49/78 - 1
8-110476877-G-A c.7816G>A p.V2606I Missense 49/78 - 2
8-110476878-T-C c.7817T>C p.V2606A Missense 49/78 - 1
8-110476880-C-A c.7819C>A p.P2607T Missense 49/78 - 1
8-110476880-C-T c.7819C>T p.P2607S Missense 49/78 - 5
8-110476881-C-T c.7820C>T p.P2607L Missense 49/78 - 5
8-110476882-C-T c.7821C>T p.P2607= Synonymous 49/78 - 1
8-110476883-C-A c.7822C>A p.L2608I Missense 49/78 - 1
8-110476886-G-T c.7825G>T p.G2609C Missense 49/78 - 3
8-110476887-G-A c.7826G>A p.G2609D Missense 49/78 - 4
8-110476888-C-A c.7827C>A p.G2609= Synonymous 49/78 - 1
8-110476889-G-A c.7828G>A p.E2610K Missense 49/78 - 20
8-110476893-T-A c.7832T>A p.F2611Y Missense 49/78 - 2
8-110476896-T-A c.7835T>A p.F2612Y Missense 49/78 - 3
8-110476891-AT-A c.7836del p.F2612Lfs*63 Frameshift 49/78 - 1
8-110476897-T-C c.7836T>C p.F2612= Synonymous 49/78 - 1
8-110476905-C-T c.7844C>T p.T2615I Missense 49/78 - 2
8-110476907-G-C c.7846G>C p.V2616L Missense 49/78 - 3
8-110476910-C-T c.7849C>T p.H2617Y Missense 49/78 - 2
8-110476913-T-A c.7852T>A p.S2618T Missense 49/78 - 1
8-110476914-C-A c.7853C>A p.S2618Y Missense 49/78 - 1
8-110476920-G-A c.7859G>A p.G2620D Missense 49/78 - 2
8-110476920-G-T c.7859G>T p.G2620V Missense 49/78 - 4
8-110476925-T-C c.7864T>C p.F2622L Missense 49/78 - 1
8-110476929-G-A c.7868G>A p.G2623E Missense 49/78 - 2
8-110476929-G-C c.7868G>C p.G2623A Missense 49/78 - 1
8-110476931-A-C c.7870A>C p.M2624L Missense 49/78 - 1
8-110476933-G-A c.7872G>A p.M2624I Missense 49/78 - 2
8-110476933-G-C c.7872G>C p.M2624I Missense 49/78 - 2
8-110476933-G-T c.7872G>T p.M2624I Missense 49/78 - 4
8-110476935-G-A c.7874G>A p.W2625* Nonsense 49/78 - 1
8-110476936-G-A c.7875G>A p.W2625* Nonsense 49/78 - 1
8-110476946-G-A c.7885G>A p.E2629K Missense 49/78 - 5
8-110476949-T-C c.7888T>C p.Y2630H Missense 49/78 - 1
8-110476952-T-G c.7891T>G p.F2631V Missense 49/78 - 1
8-110476954-C-A c.7893C>A p.F2631L Missense 49/78 - 1
8-110476954-C-T c.7893C>T p.F2631= Synonymous 49/78 - 4
8-110476955-C-T c.7894C>T p.P2632S Missense 49/78 - 4
8-110476957-C-A c.7896C>A p.P2632= Synonymous 49/78 - 2
8-110476957-C-G c.7896C>G p.P2632= Synonymous 49/78 - 2
8-110476957-C-T c.7896C>T p.P2632= Synonymous 49/78 - 2
8-110476961-C-A c.7900C>A p.Q2634K Missense 49/78 - 1
8-110476965-C-CA c.7904_7905insA p.S2637Ifs*13 Frameshift 49/78 - 1
8-110476965-C-T c.7904C>T p.T2635M Missense 49/78 - 7
8-110476966-G-A c.7905G>A p.T2635= Synonymous 49/78 - 2
8-110476967-G-A c.7906G>A p.G2636R Missense 49/78 - 3
8-110476967-G-C c.7906G>C p.G2636R Missense 49/78 - 2
8-110476968-G-T c.7907G>T p.G2636V Missense 49/78 - 1
8-110476969-A-C c.7908A>C p.G2636= Synonymous 49/78 - 1
8-110476969-A-G c.7908A>G p.G2636= Synonymous 49/78 - 1
8-110476969-A-T c.7908A>T p.G2636= Synonymous 49/78 - 1
8-110476977-C-A c.7916C>A p.T2639K Missense 49/78 - 4
8-110476979-T-C c.7918T>C p.S2640P Missense 49/78 - 1
8-110476988-C-A c.7927C>A p.P2643T Missense 49/78 - 3
8-110476988-C-T c.7927C>T p.P2643S Missense 49/78 - 2
8-110476992-C-A c.7931C>A p.A2644E Missense 49/78 - 1
8-110476992-CA-TG c.7931_7932inv p.A2644V Missense 49/78 - 1
8-110476993-A-C c.7932A>C p.A2644= Synonymous 49/78 - 4
8-110476993-A-G c.7932A>G p.A2644= Synonymous 49/78 - 19
8-110476993-A-T c.7932A>T p.A2644= Synonymous 49/78 - 4
8-110476995-C-A c.7934C>A p.P2645H Missense 49/78 - 1
8-110476997-G-A c.7936G>A p.A2646T Missense 49/78 - 1
8-110476998-C-A c.7937C>A p.A2646E Missense 49/78 - 3
8-110477010-C-A c.7949C>A p.S2650* Nonsense 49/78 - 1
8-110477010-C-G c.7949C>G p.S2650* Nonsense 49/78 - 1
8-110477010-C-T c.7949C>T p.S2650L Missense 49/78 - 3
8-110477010-CACTT-C c.7953_7956del p.T2652Lfs*22 Frameshift 49/78 - 1
8-110477014-T-C c.7953T>C p.L2651= Synonymous 49/78 - 1
8-110477018-ACT-GTG c.7957_7959delinsGTG p.T2653V Missense 49/78 - 1
8-110477023-G-C c.7962G>C p.W2654C Missense 49/78 - 1
8-110477023-G-T c.7962G>T p.W2654C Missense 49/78 - 1
8-110477028-G-C c.7967G>C p.C2656S Missense 49/78 - 1
8-110477030-C-T c.7969C>T p.Q2657* Nonsense 49/78 - 1
8-110477034-A-G c.7973A>G p.K2658R Missense 49/78 - 1
8-110477037-G-C c.7976G>C p.G2659A Missense 49/78 - 1
8-110477041-T-TA c.7980_7981insA p.E2661Rfs*12 Frameshift 49/78 - 1
8-110477044-A-G c.7983A>G p.E2661= Synonymous 49/78 - 2
8-110477045-T-C c.7984T>C p.W2662R Missense 49/78 - 1
8-110477047-G-T c.7986G>T p.W2662C Missense 49/78 - 3
8-110477049-T-A c.7988T>A p.V2663D Missense 49/78 - 1
8-110477054-G-A c.7993G>A p.G2665R Missense 49/78 - 1
8-110477054-G-C c.7993G>C p.G2665R Missense 49/78 - 1
8-110477057-G-A c.7996G>A p.G2666S Missense 49/78 - 1
8-110477058-G-T c.7997G>T p.G2666V Missense 49/78 - 3
8-110477060-G-T c.7999G>T p.A2667S Missense 49/78 - 3
8-110477061-C-T c.8000C>T p.A2667V Missense 49/78 - 2
8-110477062-C-A c.8001C>A p.A2667= Synonymous 49/78 - 1
8-110477062-C-T c.8001C>T p.A2667= Synonymous 49/78 - 3
8-110477063-C-A c.8002C>A p.L2668I Missense 49/78 - 1
8-110477063-C-G c.8002C>G p.L2668V Missense 49/78 - 1
8-110477064-T-C c.8003T>C p.L2668P Missense 49/78 - 1
8-110477066-C-T c.8005C>T p.Q2669* Nonsense 49/78 - 10
8-110477071-C-T c.8010C>T p.F2670= Synonymous 49/78 - 3
8-110477076-A-T c.8015A>T p.N2672I Missense 49/78 - 1
8-110477077-C-T c.8016C>T p.N2672= Synonymous 49/78 - 1
8-110477081-G-A c.8020G>A p.V2674M Missense 49/78 - 1
8-110477087-G-A c.8026G>A p.V2676M Missense 49/78 - 2
8-110477096-T-A c.8035T>A p.Y2679N Missense 49/78 - 1
8-110477099-G-A c.8038G>A p.E2680K Missense 49/78 - 1
8-110477105-G-A c.8044G>A p.G2682R Missense 49/78 - 1
8-110477105-G-C c.8044G>C p.G2682R Missense 49/78 - 1
8-110477106-G-T c.8045G>T p.G2682V Missense 49/78 - 2
8-110477110-T-A c.8049T>A p.I2683= Synonymous 49/78 - 1
8-110477111-G-T c.8050G>T p.E2684* Nonsense 49/78 - 1
8-110477115-C-T c.8054C>T p.T2685I Missense 49/78 - 2
8-110477119-G-C c.8058G>C p.K2686N Missense 49/78 - 1
8-110477119-G-T c.8058G>T p.K2686N Missense 49/78 - 1
8-110477125-C-A c.8064C>A p.I2688= Synonymous 49/78 - 1
8-110477126-C-T c.8065C>T p.L2689= Synonymous 49/78 - 1
8-110477129-G-A c.8068G>A p.A2690T Missense 49/78 - 1
8-110477130-C-A c.8069C>A p.A2690D Missense 49/78 - 4
8-110477132-C-T c.8071C>T p.P2691S Missense 49/78 - 2
8-110477133-C-T c.8072C>T p.P2691L Missense 49/78 - 6
8-110477134-T-C c.8073T>C p.P2691= Synonymous 49/78 - 1
8-110477137-T-G c.8076T>G p.Y2692* Nonsense 49/78 - 1
8-110477141-G-A c.8080G>A p.G2694R Missense 49/78 - 3
8-110477141-G-C c.8080G>C p.G2694R Missense 49/78 - 1
8-110477144-G-A c.8083G>A p.G2695R Missense 49/78 - 2
8-110477144-G-C c.8083G>C p.G2695R Missense 49/78 - 1
8-110477148-G-T c.8087G>T p.W2696L Missense 49/78 - 2
8-110477150-G-A c.8089G>A p.G2697S Missense 49/78 - 3
8-110477151-G-A c.8090G>A p.G2697D Missense 49/78 - 2
8-110477153-G-A c.8092G>A p.E2698K Missense 49/78 - 5
8-110477157-CC-TG c.8096_8097delinsTG p.T2699M Missense 49/78 - 1
8-110477162-G-A c.8101G>A p.G2701R Missense 49/78 - 5
8-110477162-G-C c.8101G>C p.G2701R Missense 49/78 - 1
8-110477163-G-A c.8102G>A p.G2701E Missense 49/78 - 2
8-110477165-G-A c.8104G>A p.A2702T Missense 49/78 - 1
8-110477165-G-T c.8104G>T p.A2702S Missense 49/78 - 1
8-110477166-C-T c.8105C>T p.A2702V Missense 49/78 - 3
8-110477167-G-T c.8106G>T p.A2702= Synonymous 49/78 - 3
8-110477168-G-T c.8107G>T p.V2703L Missense 49/78 - 1
8-110477172-T-A c.8111T>A p.I2704N Missense 49/78 - 1
8-110477180-G-A c.8119G>A p.A2707T Missense 49/78 - 1
8-110477181-C-T c.8120C>T p.A2707V Missense 49/78 - 1
8-110477184-A-T c.8123A>T p.K2708I Missense 49/78 - 1
8-110477189-G-A c.8128G>A p.V2710I Missense 49/78 - 1
8-110477191-C-A c.8130C>A p.V2710= Synonymous 49/78 - 2
8-110477191-C-G c.8130C>G p.V2710= Synonymous 49/78 - 2
8-110477191-C-T c.8130C>T p.V2710= Synonymous 49/78 - 2
8-110477192-G-A c.8131G>A p.G2711S Missense 49/78 - 4
8-110477197-T-C c.8136T>C p.H2712= Synonymous 49/78 - 2
8-110477198-C-T c.8137C>T p.L2713F Missense 49/78 - 4
8-110477201-G-A c.8140G>A p.D2714N Missense 49/78 - 1
8-110477201-G-T c.8140G>T p.D2714Y Missense 49/78 - 1
8-110477207-C-T c.8146C>T p.L2716= Synonymous 49/78 - 2
8-110477209-G-A c.8148G>A p.L2716= Synonymous 49/78 - 2
8-110477209-G-C c.8148G>C p.L2716= Synonymous 49/78 - 2
8-110477209-G-T c.8148G>T p.L2716= Synonymous 49/78 - 2
8-110477210-G-A c.8149G>A p.G2717R Missense 49/78 - 8
8-110477210-G-C c.8149G>C p.G2717R Missense 49/78 - 4
8-110477211-G-A c.8150G>A p.G2717E Missense 49/78 - 4
8-110477217-G-A c.8156G>A p.G2719E Missense 49/78 - 1
8-110477217-G-T c.8156G>T p.G2719V Missense 49/78 - 1
8-110477220-C-T c.8159C>T p.S2720F Missense 49/78 - 3
8-110477228-T-A c.8167T>A p.C2723S Missense 49/78 - 1
8-110477228-T-C c.8167T>C p.C2723R Missense 49/78 - 1
8-110477229-G-C c.8168G>C p.C2723S Missense 49/78 - 1
8-110477230-C-T c.8169C>T p.C2723= Synonymous 49/78 - 1
8-110477234-G-T c.8173G>T p.A2725S Missense 49/78 - 4
8-110477243-C-T c.8182C>T p.L2728= Synonymous 49/78 - 2
8-110477249-C-T c.8188C>T p.L2730F Missense 49/78 - 2
8-110477252-C-T c.8191C>T p.P2731S Missense 49/78 - 7
8-110477258-A-C c.8197A>C p.S2733R Missense 49/78 - 1
8-110477260-T-A c.8199T>A p.S2733R Missense 49/78 - 2
8-110477260-T-G c.8199T>G p.S2733R Missense 49/78 - 1
8-110477263-A-G c.8202A>G p.E2734= Synonymous 49/78 - 1
8-110477264-G-A c.8203G>A p.G2735S Missense 49/78 - 2
8-110477264-G-T c.8203G>T p.G2735C Missense 49/78 - 4
8-110477271-C-A c.8210C>A p.T2737N Missense 49/78 - 1
8-110477272-T-A c.8211T>A p.T2737= Synonymous 49/78 - 1
8-110477272-T-C c.8211T>C p.T2737= Synonymous 49/78 - 1
8-110477272-T-G c.8211T>G p.T2737= Synonymous 49/78 - 1
8-110477275-C-A c.8214C>A p.V2738= Synonymous 49/78 - 1
8-110477275-C-G c.8214C>G p.V2738= Synonymous 49/78 - 1
8-110477275-C-T c.8214C>T p.V2738= Synonymous 49/78 - 1
8-110477277-C-G c.8216C>G p.S2739C Missense 49/78 - 1
8-110477279-T-C c.8218T>C p.S2740P Missense 49/78 - 1
8-110477280-C-G c.8219C>G p.S2740C Missense 49/78 - 1
8-110477280-C-T c.8219C>T p.S2740F Missense 49/78 - 3
8-110477293-G-A c.8232G>A p.M2744I Missense 49/78 - 3
8-110477293-G-C c.8232G>C p.M2744I Missense 49/78 - 2
8-110477293-G-T c.8232G>T p.M2744I Missense 49/78 - 2
8-110477295-A-G c.8234A>G p.N2745S Missense 49/78 - 1
8-110477298-T-G c.8237T>G p.F2746C Missense 49/78 - 1
8-110477303-C-A c.8242C>A p.R2748S Missense 49/78 - 1
8-110477303-C-T c.8242C>T p.R2748C Missense 49/78 - 6
8-110477304-G-A c.8243G>A p.R2748H Missense 49/78 - 3
8-110477306-C-A c.8245C>A p.P2749T Missense 49/78 - 1
8-110477306-C-T c.8245C>T p.P2749S Missense 49/78 - 1
8-110477310-A-G c.8249A>G p.N2750S Missense 49/78 - 1
8-110477311-C-A c.8250C>A p.N2750K Missense 49/78 - 2
8-110477311-C-G c.8250C>G p.N2750K Missense 49/78 - 1
8-110477311-C-T c.8250C>T p.N2750= Synonymous 49/78 - 1
8-110477316-T-A c.8255T>A p.V2752E Missense 49/78 - 1
8-110477319-C-T c.8258C>T p.A2753V Missense 49/78 - 1
8-110477324-G-A c.8263G>A p.G2755R Missense 49/78 - 2
8-110477324-G-C c.8263G>C p.G2755R Missense 49/78 - 1
8-110477325-GA-AC c.8264_8265delinsAC p.G2755D Missense 49/78 - 1
8-110477325-G-C c.8264G>C p.G2755A Missense 49/78 - 1
8-110477329-G-A c.8268G>A p.V2756= Synonymous 49/78 - 3
8-110477330-A-T c.8269A>T p.T2757S Missense 49/78 - 1
8-110477334-C-A c.8273C>A p.S2758Y Missense 49/78 - 2
8-110477334-C-T c.8273C>T p.S2758F Missense 49/78 - 3
8-110477335-C-T c.8274C>T p.S2758= Synonymous 49/78 - 1
8-110477340-C-G c.8279C>G p.S2760C Missense 49/78 - 4
8-110477342-G-A c.8281G>A p.G2761R Missense 49/78 - 1
8-110477342-G-C c.8281G>C p.G2761R Missense 49/78 - 1
8-110477342-GGA-TGT c.8281_8283delinsTGT p.G2761C Missense 49/78 - 2
8-110477342-G-T c.8281G>T p.G2761* Nonsense 49/78 - 1
8-110477343-G-A c.8282G>A p.G2761E Missense 49/78 - 1
8-110477349-G-A c.8288G>A p.C2763Y Missense 49/78 - 1
8-110477349-G-T c.8288G>T p.C2763F Missense 49/78 - 5
8-110477350-T-C c.8289T>C p.C2763= Synonymous 49/78 - 1
8-110477352-A-C c.8291A>C p.N2764T Missense 49/78 - 6
8-110477356-C-CA c.8296dup p.R2766Kfs*11 Frameshift 49/78 - 1
8-110477358-G-A c.8297G>A p.R2766K Missense 49/78 - 2
8-110477358-G-C c.8297G>C p.R2766T Missense 49/78 - 1
8-110477364-G-A c.8303G>A p.G2768E Missense 49/78 - 2
8-110477364-GG-AC c.8303_8304delinsAC p.G2768D Missense 49/78 - 1
8-110477365-G-A c.8304G>A p.G2768= Synonymous 49/78 - 4
8-110477365-G-C c.8304G>C p.G2768= Synonymous 49/78 - 1
8-110477365-G-T c.8304G>T p.G2768= Synonymous 49/78 - 2
8-110477362-TG-T c.8306del p.G2769Vfs*27 Frameshift 49/78 - 1
8-110477367-G-A c.8306G>A p.G2769D Missense 49/78 - 1
8-110477370-G-A c.8309G>A p.W2770* Nonsense 49/78 - 2
8-110477371-G-A c.8310G>A p.W2770* Nonsense 49/78 - 7
8-110477384-G-A c.8323G>A p.V2775I Missense 49/78 - 1
8-110477389-C-T c.8328C>T p.D2776= Synonymous 49/78 - 2
8-110477390-G-A c.8329G>A p.V2777I Missense 49/78 - 1
8-110477393-C-T c.8332C>T p.Q2778* Nonsense 49/78 - 1
8-110477398-T-C c.8337T>C p.Y2779= Synonymous 49/78 - 2
8-110477406-C-T c.8345C>T p.T2782I Missense 49/78 - 1
8-110477407-A-C c.8346A>C p.T2782= Synonymous 49/78 - 1
8-110477407-A-G c.8346A>G p.T2782= Synonymous 49/78 - 1
8-110477407-A-T c.8346A>T p.T2782= Synonymous 49/78 - 1
8-110477409-C-A c.8348C>A p.P2783Q Missense 49/78 - 1
8-110477410-G-A c.8349G>A p.P2783= Synonymous 49/78 - 3
8-110477412-A-G c.8351A>G p.N2784S Missense 49/78 - 2
8-110477415-A-C c.8354A>C p.K2785T Missense 49/78 - 1
8-110477416-G-A c.8355G>A p.K2785= Synonymous 49/78 - 1
8-110477416-G-C c.8355G>C p.K2785N Missense 49/78 - 1
8-110477416-G-T c.8355G>T p.K2785N Missense 49/78 - 1
8-110477423-T-C c.8362T>C p.F2788L Missense 49/78 - 1
8-110477426-C-T c.8365C>T p.R2789C Missense 49/78 - 8
8-110477427-G-A c.8366G>A p.R2789H Missense 49/78 - 1
8-110477428-C-A c.8367C>A p.R2789= Synonymous 49/78 - 1
8-110477428-C-G c.8367C>G p.R2789= Synonymous 49/78 - 1
8-110477428-C-T c.8367C>T p.R2789= Synonymous 49/78 - 2
8-110477430-G-A c.8369G>A p.W2790* Nonsense 49/78 - 1
8-110477431-G-A c.8370G>A p.W2790* Nonsense 49/78 - 1
8-110477432-G-A c.8371G>A p.E2791K Missense 49/78 - 2
8-110477438-G-A c.8377G>A p.E2793K Missense 49/78 - 7
8-110477443-G-T c.8382G>T p.M2794I Missense 49/78 - 1
8-110477444-G-A c.8383G>A p.V2795I Missense 49/78 - 1
8-110477445-T-A c.8384T>A p.V2795E Missense 49/78 - 1
8-110477449-G-A c.8388G>A p.M2796I Missense 49/78 - 2
8-110477453-G-C c.8392G>C p.D2798H Missense 49/78 - 2
8-110477462-G-A c.8401G>A p.G2801S Missense 49/78 - 2
8-110477465-TC-GG c.8404_8405delinsGG p.S2802G Missense 49/78 - 1
8-110477466-C-A c.8405C>A p.S2802* Nonsense 49/78 - 2
8-110477466-C-G c.8405C>G p.S2802* Nonsense 49/78 - 2
8-110477466-C-T c.8405C>T p.S2802L Missense 49/78 - 6
8-110477471-A-G c.8410A>G p.T2804A Missense 49/78 - 1
8-110477472-C-T c.8411C>T p.T2804I Missense 49/78 - 2
8-110477474-G-T c.8413G>T p.G2805W Missense 49/78 - 1
8-110478661-C-T c.8414-146C>T - IntronicSNV - 49/77 1
8-110478808-G-C c.8415G>C p.G2805= Synonymous 50/78 - 1
8-110478811-C-G c.8418C>G p.H2806Q Missense 50/78 - 3
8-110478816-G-A c.8423G>A p.G2808E Missense 50/78 - 4
8-110478820-T-C c.8427T>C p.H2809= Synonymous 50/78 - 1
8-110478821-A-G c.8428A>G p.T2810A Missense 50/78 - 1
8-110478822-C-A c.8429C>A p.T2810N Missense 50/78 - 1
8-110478827-A-G c.8434A>G p.I2812V Missense 50/78 - 1
8-110478830-C-A c.8437C>A p.P2813T Missense 50/78 - 1
8-110478830-C-G c.8437C>G p.P2813A Missense 50/78 - 1
8-110478830-C-T c.8437C>T p.P2813S Missense 50/78 - 4
8-110478831-C-T c.8438C>T p.P2813L Missense 50/78 - 2
8-110478837-G-A c.8444G>A p.S2815N Missense 50/78 - 3
8-110478839-T-A c.8446T>A p.S2816T Missense 50/78 - 1
8-110478848-G-A c.8455G>A p.D2819N Missense 50/78 - 1
8-110478849-A-G c.8456A>G p.D2819G Missense 50/78 - 1
8-110478851-C-T c.8458C>T p.P2820S Missense 50/78 - 3
8-110478852-C-A c.8459C>A p.P2820H Missense 50/78 - 3
8-110478857-C-T c.8464C>T p.H2822Y Missense 50/78 - 1
8-110478858-A-G c.8465A>G p.H2822R Missense 50/78 - 2
8-110478863-A-G c.8470A>G p.T2824A Missense 50/78 - 3
8-110478869-G-A c.8476G>A p.E2826K Missense 50/78 - 5
8-110478873-C-T c.8480C>T p.A2827V Missense 50/78 - 1
8-110478873-CT-AG c.8480_8481inv p.A2827E Missense 50/78 - 1
8-110478882-G-A c.8489G>A p.S2830N Missense 50/78 - 3
8-110478889-G-A c.8496G>A p.G2832= Synonymous 50/78 - 1
8-110478889-G-C c.8496G>C p.G2832= Synonymous 50/78 - 1
8-110478889-G-T c.8496G>T p.G2832= Synonymous 50/78 - 1
8-110478892-C-A c.8499C>A p.F2833L Missense 50/78 - 2
8-110478892-C-T c.8499C>T p.F2833= Synonymous 50/78 - 7
8-110478896-G-T c.8503G>T p.G2835* Nonsense 50/78 - 1
8-110478895-TG-T c.8504del p.G2835Dfs*13 Frameshift 50/78 - 1
8-110478898-A-C c.8505A>C p.G2835= Synonymous 50/78 - 1
8-110478898-A-G c.8505A>G p.G2835= Synonymous 50/78 - 1
8-110478898-A-T c.8505A>T p.G2835= Synonymous 50/78 - 1
8-110478900-C-A c.8507C>A p.S2836* Nonsense 50/78 - 2
8-110478900-C-G c.8507C>G p.S2836* Nonsense 50/78 - 2
8-110478900-C-T c.8507C>T p.S2836L Missense 50/78 - 6
8-110478902-GTC-ATG c.8509_8511delinsATG p.V2837M Missense 50/78 - 1
8-110478904-C-A c.8511C>A p.V2837= Synonymous 50/78 - 1
8-110478904-C-G c.8511C>G p.V2837= Synonymous 50/78 - 1
8-110478904-C-T c.8511C>T p.V2837= Synonymous 50/78 - 1
8-110478908-G-T c.8515G>T p.D2839Y Missense 50/78 - 1
8-110478911-G-A c.8518G>A p.A2840T Missense 50/78 - 2
8-110478915-CA-TT c.8522_8523delinsTT p.S2841F Missense 50/78 - 1
8-110478926-C-T c.8533C>T p.H2845Y Missense 50/78 - 1
8-110478928-C-A c.8535C>A p.H2845Q Missense 50/78 - 4
8-110478928-C-G c.8535C>G p.H2845Q Missense 50/78 - 2
8-110478929-C-T c.8536C>T p.R2846C Missense 50/78 - 1
8-110478930-G-A c.8537G>A p.R2846H Missense 50/78 - 5
8-110478936-C-A c.8543C>A p.A2848E Missense 50/78 - 1
8-110478937-G-A c.8544G>A p.A2848= Synonymous 50/78 - 1
8-110478940-C-T c.8547C>T p.F2849= Synonymous 50/78 - 1
8-110478942-A-G c.8549A>G p.N2850S Missense 50/78 - 1
8-110478944-C-G c.8551C>G p.Q2851E Missense 50/78 - 1
8-110478951-C-A c.8558C>A p.S2853Y Missense 50/78 - 1
8-110478953-C-A c.8560C>A p.P2854T Missense 50/78 - 2
8-110478953-C-T c.8560C>T p.P2854S Missense 50/78 - 1
8-110478960-C-A c.8567C>A p.S2856Y Missense 50/78 - 1
8-110478962-C-A c.8569C>A p.L2857M Missense 50/78 - 1
8-110478964-G-A c.8571G>A p.L2857= Synonymous 50/78 - 1
8-110478966-T-A c.8573T>A p.L2858H Missense 50/78 - 1
8-110478967-T-A c.8574T>A p.L2858= Synonymous 50/78 - 2
8-110478967-T-C c.8574T>C p.L2858= Synonymous 50/78 - 3
8-110478967-T-G c.8574T>G p.L2858= Synonymous 50/78 - 2
8-110478968-G-C c.8575G>C p.E2859Q Missense 50/78 - 1
8-110478972-A-G c.8579A>G p.K2860R Missense 50/78 - 1
8-110478973-G-A c.8580G>A p.K2860= Synonymous 50/78 - 1
8-110478974-G-A c.8581G>A p.D2861N Missense 50/78 - 6
8-110478977-G-A c.8584G>A p.V2862M Missense 50/78 - 1
8-110478979-G-A c.8586G>A p.V2862= Synonymous 50/78 - 2
8-110478980-G-A c.8587G>A p.V2863I Missense 50/78 - 1
8-110478983-C-A c.8590C>A p.L2864I Missense 50/78 - 5
8-110478992-T-A c.8599T>A p.S2867T Missense 50/78 - 1
8-110478993-CTT-C c.8603_8604del p.F2868Wfs*29 SpliceDonorDeletion 50/78 - 1
8-110481882-GT-G c.8605+2891del - IntronicDeletion - 50/77 1
8-110482382-A-G c.8605+3384A>G - IntronicSNV - 50/77 1
8-110482749-G-A c.8605+3751G>A - IntronicSNV - 50/77 1
8-110482749-G-C c.8605+3751G>C - IntronicSNV - 50/77 1
8-110482872-GAA-G c.8605+3877_8605+3878del - IntronicDeletion - 50/77 1
8-110482900-T-C c.8605+3902T>C - IntronicSNV - 50/77 2
8-110487349-A-C c.8608A>C p.T2870P Missense 51/78 - 1
8-110487349-A-T c.8608A>T p.T2870S Missense 51/78 - 3
8-110487355-A-G c.8614A>G p.I2872V Missense 51/78 - 1
8-110487357-T-C c.8616T>C p.I2872= Synonymous 51/78 - 1
8-110487362-C-T c.8621C>T p.P2874L Missense 51/78 - 1
8-110487376-C-A c.8635C>A p.R2879= Synonymous 51/78 - 1
8-110487377-G-A c.8636G>A p.R2879Q Missense 51/78 - 3
8-110487383-C-A c.8642C>A p.T2881N Missense 51/78 - 1
8-110487383-C-T c.8642C>T p.T2881I Missense 51/78 - 1
8-110487385-C-T c.8644C>T p.H2882Y Missense 51/78 - 1
8-110487390-G-A c.8649G>A p.M2883I Missense 51/78 - 1
8-110487390-G-C c.8649G>C p.M2883I Missense 51/78 - 1
8-110487390-G-T c.8649G>T p.M2883I Missense 51/78 - 1
8-110487392-C-A c.8651C>A p.S2884Y Missense 51/78 - 1
8-110487394-G-A c.8653G>A p.G2885R Missense 51/78 - 1
8-110487394-G-C c.8653G>C p.G2885R Missense 51/78 - 1
8-110487395-G-A c.8654G>A p.G2885E Missense 51/78 - 3
8-110487395-G-C c.8654G>C p.G2885A Missense 51/78 - 1
8-110487398-G-A c.8657G>A p.W2886* Nonsense 51/78 - 5
8-110487398-GG-AA c.8657_8658delinsAA p.W2886* Missense 51/78 - 1
8-110487399-G-A c.8658G>A p.W2886* Nonsense 51/78 - 1
8-110487401-T-A c.8660T>A p.M2887K Missense 51/78 - 1
8-110487412-C-T c.8671C>T p.P2891S Missense 51/78 - 2
8-110487418-G-A c.8677G>A p.A2893T Missense 51/78 - 1
8-110487419-CA-C c.8681del p.N2894Ifs*13 Frameshift 51/78 - 2
8-110487424-C-T c.8683C>T p.H2895Y Missense 51/78 - 2
8-110487429-T-C c.8688T>C p.I2896= Synonymous 51/78 - 1
8-110487432-C-T c.8691C>T p.N2897= Synonymous 51/78 - 2
8-110487439-T-A c.8698T>A p.F2900I Missense 51/78 - 4
8-110487442-A-G c.8701A>G p.K2901E Missense 51/78 - 1
8-110487445-G-A c.8704G>A p.G2902S Missense 51/78 - 2
8-110487446-G-A c.8705G>A p.G2902D Missense 51/78 - 2
8-110487448-G-C c.8707G>C p.V2903L Missense 51/78 - 1
8-110487448-G-T c.8707G>T p.V2903L Missense 51/78 - 2
8-110487451-G-A c.8710G>A p.D2904N Missense 51/78 - 2
8-110487453-T-G c.8712T>G p.D2904E Missense 51/78 - 1
8-110487454-C-T c.8713C>T p.H2905Y Missense 51/78 - 4
8-110487457-A-T c.8716A>T p.I2906L Missense 51/78 - 1
8-110487462-C-G c.8721C>G p.T2907= Synonymous 51/78 - 1
8-110487466-A-G c.8725A>G p.I2909V Missense 51/78 - 3
8-110487470-C-T c.8729C>T p.S2910L Missense 51/78 - 10
8-110487475-A-G c.8734A>G p.T2912A Missense 51/78 - 1
8-110487479-C-T c.8738C>T p.S2913L Missense 51/78 - 9
8-110487486-C-T c.8745C>T p.F2915= Synonymous 51/78 - 2
8-110487490-G-A c.8749G>A p.G2917R Missense 51/78 - 4
8-110487490-G-C c.8749G>C p.G2917R Missense 51/78 - 3
8-110487491-G-T c.8750G>T p.G2917V Missense 51/78 - 1
8-110487512-T-A c.8757+14T>A - IntronicSNV - 51/77 2
8-110488740-G-A c.8761G>A p.E2921K Missense 52/78 - 3
8-110488741-A-C c.8762A>C p.E2921A Missense 52/78 - 1
8-110488759-C-A c.8780C>A p.S2927* Nonsense 52/78 - 1
8-110488761-C-T c.8782C>T p.H2928Y Missense 52/78 - 1
8-110488763-T-A c.8784T>A p.H2928Q Missense 52/78 - 1
8-110488779-C-T c.8800C>T p.P2934S Missense 52/78 - 2
8-110488780-C-T c.8801C>T p.P2934L Missense 52/78 - 2
8-110488792-A-C c.8813A>C p.N2938T Missense 52/78 - 1
8-110488795-T-A c.8816T>A p.I2939N Missense 52/78 - 2
8-110488802-T-C c.8823T>C p.D2941= Synonymous 52/78 - 1
8-110488805-G-A c.8826G>A p.M2942I Missense 52/78 - 6
8-110488805-G-C c.8826G>C p.M2942I Missense 52/78 - 2
8-110488805-G-T c.8826G>T p.M2942I Missense 52/78 - 2
8-110488806-A-G c.8827A>G p.R2943G Missense 52/78 - 1
8-110488808-G-A c.8829G>A p.R2943= Synonymous 52/78 - 2
8-110488812-G-T c.8833G>T p.G2945C Missense 52/78 - 3
8-110488819-C-A c.8840C>A p.S2947* Nonsense 52/78 - 1
8-110488819-C-G c.8840C>G p.S2947* Nonsense 52/78 - 1
8-110488824-C-T c.8845C>T p.P2949S Missense 52/78 - 3
8-110488827-T-C c.8848T>C p.L2950= Synonymous 52/78 - 2
8-110488829-G-A c.8850G>A p.L2950= Synonymous 52/78 - 2
8-110488835-G-A c.8856G>A p.W2952* Nonsense 52/78 - 1
8-110488847-G-C c.8868G>C p.K2956N Missense 52/78 - 1
8-110488847-G-T c.8868G>T p.K2956N Missense 52/78 - 1
8-110488856-C-A c.8877C>A p.D2959E Missense 52/78 - 1
8-110488856-C-G c.8877C>G p.D2959E Missense 52/78 - 1
8-110488858-G-A c.8879G>A p.W2960* Nonsense 52/78 - 1
8-110488859-G-A c.8880G>A p.W2960* Nonsense 52/78 - 1
8-110488860-C-T c.8881C>T p.H2961Y Missense 52/78 - 1
8-110488866-G-A c.8887G>A p.E2963K Missense 52/78 - 1
8-110488868-A-G c.8889A>G p.E2963= Synonymous 52/78 - 2
8-110488876-C-T c.8897C>T p.T2966I Missense 52/78 - 3
8-110488880-T-C c.8901T>C p.S2967= Synonymous 52/78 - 1
8-110488892-C-A c.8913C>A p.Y2971* Nonsense 52/78 - 1
8-110488892-C-G c.8913C>G p.Y2971* Nonsense 52/78 - 1
8-110488896-G-T c.8917G>T p.V2973L Missense 52/78 - 2
8-110489459-G-T c.8923G>T p.G2975* Nonsense 53/78 - 1
8-110489460-G-A c.8924G>A p.G2975E Missense 53/78 - 5
8-110489463-G-A c.8927G>A p.R2976K Missense 53/78 - 4
8-110489467-T-A c.8931T>A p.N2977K Missense 53/78 - 1
8-110489467-T-G c.8931T>G p.N2977K Missense 53/78 - 1
8-110489474-C-T c.8938C>T p.H2980Y Missense 53/78 - 4
8-110489479-G-A c.8943G>A p.Q2981= Synonymous 53/78 - 1
8-110489479-G-C c.8943G>C p.Q2981H Missense 53/78 - 1
8-110489484-A-G c.8948A>G p.Q2983R Missense 53/78 - 1
8-110489500-C-A c.8964C>A p.N2988K Missense 53/78 - 1
8-110489500-C-G c.8964C>G p.N2988K Missense 53/78 - 1
8-110489507-C-T c.8971C>T p.P2991S Missense 53/78 - 2
8-110489515-G-A c.8979G>A p.V2993= Synonymous 53/78 - 1
8-110489519-G-T c.8983G>T p.D2995Y Missense 53/78 - 1
8-110489522-G-A c.8986G>A p.V2996I Missense 53/78 - 2
8-110489536-C-T c.9000C>T p.F3000= Synonymous 53/78 - 1
8-110489537-C-T c.9001C>T p.Q3001* Nonsense 53/78 - 2
8-110489541-C-T c.9005C>T p.A3002V Missense 53/78 - 2
8-110489547-G-A c.9011G>A p.C3004Y Missense 53/78 - 1
8-110489555-C-A c.9019C>A p.L3007I Missense 53/78 - 3
8-110489561-G-A c.9025G>A p.D3009N Missense 53/78 - 3
8-110489561-G-T c.9025G>T p.D3009Y Missense 53/78 - 1
8-110489565-G-A c.9029G>A p.C3010Y Missense 53/78 - 2
8-110489566-C-A c.9030C>A p.C3010* Nonsense 53/78 - 1
8-110489566-C-T c.9030C>T p.C3010= Synonymous 53/78 - 1
8-110489567-T-A c.9031T>A p.F3011I Missense 53/78 - 1
8-110489570-C-T c.9034C>T p.P3012S Missense 53/78 - 1
8-110489571-C-A c.9035C>A p.P3012H Missense 53/78 - 4
8-110489571-C-T c.9035C>T p.P3012L Missense 53/78 - 3
8-110489579-C-T c.9043C>T p.P3015S Missense 53/78 - 1
8-110489580-C-A c.9044C>A p.P3015Q Missense 53/78 - 1
8-110489580-C-T c.9044C>T p.P3015L Missense 53/78 - 2
8-110489582-C-A c.9046C>A p.P3016T Missense 53/78 - 1
8-110489586-C-G c.9050C>G p.S3017* Nonsense 53/78 - 1
8-110489587-A-C c.9051A>C p.S3017= Synonymous 53/78 - 1
8-110489587-A-G c.9051A>G p.S3017= Synonymous 53/78 - 1
8-110489587-A-T c.9051A>T p.S3017= Synonymous 53/78 - 2
8-110489588-AGA-TGG c.9052_9054delinsTGG p.R3018W Missense 53/78 - 1
8-110489595-C-T c.9059C>T p.P3020L Missense 53/78 - 1
8-110489598-T-C c.9062T>C p.I3021T Missense 53/78 - 1
8-110489600-C-T c.9064C>T p.P3022S Missense 53/78 - 1
8-110489605-G-A c.9069G>A p.K3023= Synonymous 53/78 - 2
8-110489609-C-T c.9073C>T p.R3025* Nonsense 53/78 - 2
8-110489610-G-A c.9074G>A p.R3025Q Missense 53/78 - 2
8-110489610-G-T c.9074G>T p.R3025L Missense 53/78 - 1
8-110489617-C-T c.9081C>T p.A3027= Synonymous 53/78 - 2
8-110489618-A-T c.9082A>T p.T3028S Missense 53/78 - 2
8-110489620-A-C c.9084A>C p.T3028= Synonymous 53/78 - 15
8-110489620-A-G c.9084A>G p.T3028= Synonymous 53/78 - 5
8-110489620-A-T c.9084A>T p.T3028= Synonymous 53/78 - 18
8-110490488-TA-T c.9089+871del - IntronicDeletion - 53/77 1
8-110491661-A-ATT c.9090-112_9090-111dup - IntronicInsertion - 53/77 2
8-110491661-A-AT c.9090-111dup - IntronicInsertion - 53/77 2
8-110491787-T-C c.9097T>C p.S3033P Missense 54/78 - 1
8-110491797-C-A c.9107C>A p.S3036Y Missense 54/78 - 3
8-110491797-C-G c.9107C>G p.S3036C Missense 54/78 - 1
8-110491801-T-C c.9111T>C p.F3037= Synonymous 54/78 - 1
8-110491805-C-A c.9115C>A p.Q3039K Missense 54/78 - 1
8-110491815-G-A c.9125G>A p.R3042Q Missense 54/78 - 1
8-110491817-G-A c.9127G>A p.E3043K Missense 54/78 - 1
8-110491821-A-G c.9131A>G p.N3044S Missense 54/78 - 1
8-110491835-C-T c.9145C>T p.P3049S Missense 54/78 - 2
8-110491836-C-G c.9146C>G p.P3049R Missense 54/78 - 1
8-110491840-C-A c.9150C>A p.H3050Q Missense 54/78 - 6
8-110491840-C-G c.9150C>G p.H3050Q Missense 54/78 - 28
8-110491840-C-T c.9150C>T p.H3050= Synonymous 54/78 - 6
8-110491844-G-T c.9154G>T p.G3052W Missense 54/78 - 1
8-110491846-G-A c.9156G>A p.G3052= Synonymous 54/78 - 2
8-110491846-G-C c.9156G>C p.G3052= Synonymous 54/78 - 2
8-110491846-G-T c.9156G>T p.G3052= Synonymous 54/78 - 2
8-110491859-A-T c.9169A>T p.I3057L Missense 54/78 - 4
8-110491863-C-T c.9173C>T p.P3058L Missense 54/78 - 1
8-110491877-G-A c.9178+9G>A - IntronicSNV - 54/77 6
8-110491964-A-G c.9178+96A>G - IntronicSNV - 54/77 5
8-110492128-C-G c.9179-92C>G - IntronicSNV - 54/77 1
8-110492220-GGA-G c.9179_9180del p.G3060Dfs*6 SpliceAcceptorDeletion 55/78 - 1
8-110492225-T-A c.9184T>A p.W3062R Missense 55/78 - 1
8-110492225-T-C c.9184T>C p.W3062R Missense 55/78 - 1
8-110492227-G-C c.9186G>C p.W3062C Missense 55/78 - 1
8-110492227-G-T c.9186G>T p.W3062C Missense 55/78 - 1
8-110492231-G-A c.9190G>A p.V3064I Missense 55/78 - 2
8-110492233-A-G c.9192A>G p.V3064= Synonymous 55/78 - 1
8-110492234-G-T c.9193G>T p.A3065S Missense 55/78 - 1
8-110492235-C-T c.9194C>T p.A3065V Missense 55/78 - 1
8-110492237-G-A c.9196G>A p.D3066N Missense 55/78 - 1
8-110492244-A-T c.9203A>T p.D3068V Missense 55/78 - 1
8-110492247-T-G c.9206T>G p.M3069R Missense 55/78 - 1
8-110492257-G-A c.9216G>A p.M3072I Missense 55/78 - 5
8-110492257-G-C c.9216G>C p.M3072I Missense 55/78 - 2
8-110492257-G-T c.9216G>T p.M3072I Missense 55/78 - 2
8-110492262-G-A c.9221G>A p.R3074K Missense 55/78 - 1
8-110492264-C-G c.9223C>G p.L3075V Missense 55/78 - 2
8-110492268-T-C c.9227T>C p.I3076T Missense 55/78 - 1
8-110492270-A-T c.9229A>T p.I3077F Missense 55/78 - 2
8-110492273-T-TG c.9238dup p.V3080Gfs*7 Frameshift 55/78 - 2
8-110492279-G-A c.9238G>A p.V3080I Missense 55/78 - 7
8-110492291-G-A c.9250G>A p.E3084K Missense 55/78 - 1
8-110492291-G-T c.9250G>T p.E3084* Nonsense 55/78 - 1
8-110492294-G-A c.9253G>A p.D3085N Missense 55/78 - 1
8-110492296-T-A c.9255T>A p.D3085E Missense 55/78 - 1
8-110492296-T-G c.9255T>G p.D3085E Missense 55/78 - 1
8-110492298-A-C c.9257A>C p.K3086T Missense 55/78 - 1
8-110492309-GGA-AGC c.9268_9270delinsAGC p.G3090S Missense 55/78 - 1
8-110492318-G-A c.9277G>A p.E3093K Missense 55/78 - 2
8-110492319-A-G c.9278A>G p.E3093G Missense 55/78 - 1
8-110492321-T-C c.9280T>C p.S3094P Missense 55/78 - 1
8-110492328-A-C c.9287A>C p.Y3096S Missense 55/78 - 1
8-110492327-TAC-T c.9288_9289del p.Y3096* Frameshift 55/78 - 1
8-110492329-C-A c.9288C>A p.Y3096* Nonsense 55/78 - 1
8-110492329-C-G c.9288C>G p.Y3096* Nonsense 55/78 - 1
8-110492333-G-C c.9292G>C p.E3098Q Missense 55/78 - 2
8-110492347-T-C c.9306T>C p.N3102= Synonymous 55/78 - 1
8-110492348-G-C c.9307G>C p.A3103P Missense 55/78 - 8
8-110492349-C-T c.9308C>T p.A3103V Missense 55/78 - 4
8-110492352-C-T c.9311C>T p.T3104I Missense 55/78 - 6
8-110492355-A-C c.9314A>C p.Y3105S Missense 55/78 - 1
8-110492760-G-A c.9327+392G>A - IntronicSNV - 55/77 1
8-110492949-G-A c.9327+581G>A - IntronicSNV - 55/77 1
8-110492949-G-C c.9327+581G>C - IntronicSNV - 55/77 3
8-110493660-A-G c.9328-2A>G - IntronicSNV - 55/77 1
8-110493660-AG-A c.9329del p.G3110Efs*4 Frameshift 56/78 - 1
8-110493663-G-A c.9329G>A p.G3110E Missense 56/78 - 2
8-110493674-A-T c.9340A>T p.I3114F Missense 56/78 - 1
8-110493680-G-A c.9346G>A p.G3116S Missense 56/78 - 1
8-110493681-G-A c.9347G>A p.G3116D Missense 56/78 - 1
8-110493686-G-A c.9352G>A p.E3118K Missense 56/78 - 10
8-110493686-G-T c.9352G>T p.E3118* Nonsense 56/78 - 1
8-110493691-T-C c.9357T>C p.D3119= Synonymous 56/78 - 1
8-110493694-C-A c.9360C>A p.N3120K Missense 56/78 - 2
8-110493694-C-G c.9360C>G p.N3120K Missense 56/78 - 1
8-110493695-C-A c.9361C>A p.P3121T Missense 56/78 - 2
8-110493695-C-T c.9361C>T p.P3121S Missense 56/78 - 5
8-110493696-C-G c.9362C>G p.P3121R Missense 56/78 - 1
8-110493696-C-T c.9362C>T p.P3121L Missense 56/78 - 1
8-110493698-T-G c.9364T>G p.F3122V Missense 56/78 - 1
8-110493715-G-C c.9381G>C p.K3127N Missense 56/78 - 1
8-110493715-G-T c.9381G>T p.K3127N Missense 56/78 - 1
8-110493716-A-G c.9382A>G p.I3128V Missense 56/78 - 1
8-110493719-G-C c.9385G>C p.V3129L Missense 56/78 - 1
8-110493726-G-A c.9392G>A p.R3131K Missense 56/78 - 1
8-110493728-G-A c.9394G>A p.G3132R Missense 56/78 - 1
8-110493728-G-C c.9394G>C p.G3132R Missense 56/78 - 1
8-110493729-G-A c.9395G>A p.G3132E Missense 56/78 - 4
8-110493734-C-T c.9400C>T p.H3134Y Missense 56/78 - 1
8-110493737-A-G c.9403A>G p.T3135A Missense 56/78 - 1
8-110493740-A-G c.9406A>G p.T3136A Missense 56/78 - 1
8-110493746-G-T c.9412G>T p.D3138Y Missense 56/78 - 1
8-110493750-G-A c.9416G>A p.W3139* Nonsense 56/78 - 1
8-110493751-G-T c.9417G>T p.W3139C Missense 56/78 - 1
8-110493752-G-T c.9418G>T p.A3140S Missense 56/78 - 1
8-110493753-C-T c.9419C>T p.A3140V Missense 56/78 - 3
8-110493755-C-A c.9421C>A p.L3141I Missense 56/78 - 1
8-110493755-C-T c.9421C>T p.L3141F Missense 56/78 - 1
8-110493758-C-T c.9424C>T p.P3142S Missense 56/78 - 1
8-110493761-G-C c.9427G>C p.E3143Q Missense 56/78 - 1
8-110493765-G-A c.9431G>A p.G3144E Missense 56/78 - 1
8-110493768-C-A c.9434C>A p.P3145Q Missense 56/78 - 1
8-110493777-GG-AC c.9443_9444delinsAC p.G3148D Missense 56/78 - 1
8-110493779-G-T c.9445G>T p.A3149S Missense 56/78 - 1
8-110493780-GC-G c.9446del p.A3149Efs*4 Frameshift 56/78 - 1
8-110493784-G-A c.9450G>A p.K3150= Synonymous 56/78 - 1
8-110494071-G-T c.9457+280G>T - IntronicSNV - 56/77 1
8-110495192-T-A c.9458-24T>A - IntronicSNV - 56/77 7
8-110495192-T-C c.9458-24T>C - IntronicSNV - 56/77 7
8-110495217-G-A c.9459G>A p.G3153= Synonymous 57/78 - 3
8-110495217-G-C c.9459G>C p.G3153= Synonymous 57/78 - 1
8-110495217-G-T c.9459G>T p.G3153= Synonymous 57/78 - 1
8-110495218-G-A c.9460G>A p.V3154M Missense 57/78 - 1
8-110495230-C-T c.9472C>T p.L3158= Synonymous 57/78 - 1
8-110495232-G-A c.9474G>A p.L3158= Synonymous 57/78 - 1
8-110495232-G-C c.9474G>C p.L3158= Synonymous 57/78 - 1
8-110495232-G-T c.9474G>T p.L3158= Synonymous 57/78 - 1
8-110495233-G-A c.9475G>A p.D3159N Missense 57/78 - 2
8-110495233-G-C c.9475G>C p.D3159H Missense 57/78 - 1
8-110495236-C-A c.9478C>A p.L3160I Missense 57/78 - 1
8-110495248-C-T c.9490C>T p.P3164S Missense 57/78 - 4
8-110495249-C-T c.9491C>T p.P3164L Missense 57/78 - 4
8-110495254-T-G c.9496T>G p.S3166A Missense 57/78 - 1
8-110495257-A-G c.9499A>G p.I3167V Missense 57/78 - 1
8-110495260-T-C c.9502T>C p.Y3168H Missense 57/78 - 3
8-110495266-A-T c.9508A>T p.T3170S Missense 57/78 - 1
8-110495274-C-A c.9516C>A p.L3172= Synonymous 57/78 - 3
8-110495274-C-G c.9516C>G p.L3172= Synonymous 57/78 - 3
8-110495274-C-T c.9516C>T p.L3172= Synonymous 57/78 - 3
8-110495278-G-A c.9520G>A p.E3174K Missense 57/78 - 1
8-110495285-C-G c.9527C>G p.A3176G Missense 57/78 - 1
8-110495289-T-C c.9531T>C p.F3177= Synonymous 57/78 - 1
8-110495290-G-A c.9532G>A p.A3178T Missense 57/78 - 1
8-110495297-C-T c.9539C>T p.S3180F Missense 57/78 - 5
8-110495298-C-G c.9540C>G p.S3180= Synonymous 57/78 - 1
8-110495303-T-C c.9545T>C p.V3182A Missense 57/78 - 1
8-110495309-C-A c.9551C>A p.S3184Y Missense 57/78 - 1
8-110495313-G-A c.9555G>A p.L3185= Synonymous 57/78 - 2
8-110495320-G-T c.9562G>T p.A3188S Missense 57/78 - 1
8-110495321-C-A c.9563C>A p.A3188D Missense 57/78 - 1
8-110495323-G-T c.9565G>T p.V3189L Missense 57/78 - 1
8-110495324-T-A c.9566T>A p.V3189E Missense 57/78 - 2
8-110495325-G-A c.9567G>A p.V3189= Synonymous 57/78 - 1
8-110495331-G-C c.9573G>C p.W3191C Missense 57/78 - 1
8-110495331-G-T c.9573G>T p.W3191C Missense 57/78 - 1
8-110496263-G-T c.9576+929G>T - IntronicSNV - 57/77 1
8-110497119-C-T c.9577-154C>T - IntronicSNV - 57/77 1
8-110497273-G-A c.9577G>A p.E3193K Missense 58/78 - 2
8-110497275-G-C c.9579G>C p.E3193D Missense 58/78 - 3
8-110497275-G-T c.9579G>T p.E3193D Missense 58/78 - 7
8-110497276-G-A c.9580G>A p.G3194R Missense 58/78 - 4
8-110497276-G-C c.9580G>C p.G3194R Missense 58/78 - 3
8-110497279-G-A c.9583G>A p.E3195K Missense 58/78 - 2
8-110497282-G-C c.9586G>C p.E3196Q Missense 58/78 - 1
8-110497284-G-A c.9588G>A p.E3196= Synonymous 58/78 - 1
8-110497290-G-A c.9594G>A p.V3198= Synonymous 58/78 - 2
8-110497290-G-C c.9594G>C p.V3198= Synonymous 58/78 - 1
8-110497290-G-T c.9594G>T p.V3198= Synonymous 58/78 - 1
8-110497298-C-T c.9602C>T p.T3201I Missense 58/78 - 1
8-110497299-C-A c.9603C>A p.T3201= Synonymous 58/78 - 1
8-110497299-C-G c.9603C>G p.T3201= Synonymous 58/78 - 1
8-110497299-C-T c.9603C>T p.T3201= Synonymous 58/78 - 1
8-110497305-C-A c.9609C>A p.S3203R Missense 58/78 - 1
8-110497305-C-T c.9609C>T p.S3203= Synonymous 58/78 - 1
8-110497308-C-T c.9612C>T p.Y3204= Synonymous 58/78 - 2
8-110497309-G-A c.9613G>A p.D3205N Missense 58/78 - 1
8-110497314-C-T c.9618C>T p.F3206= Synonymous 58/78 - 3
8-110497320-G-C c.9624G>C p.Q3208H Missense 58/78 - 5
8-110497320-G-T c.9624G>T p.Q3208H Missense 58/78 - 3
8-110497328-C-T c.9632C>T p.T3211I Missense 58/78 - 1
8-110497338-C-A c.9642C>A p.I3214= Synonymous 58/78 - 1
8-110497338-C-T c.9642C>T p.I3214= Synonymous 58/78 - 5
8-110497339-G-A c.9643G>A p.V3215I Missense 58/78 - 1
8-110497339-G-C c.9643G>C p.V3215L Missense 58/78 - 1
8-110497354-G-A c.9658G>A p.D3220N Missense 58/78 - 2
8-110497354-G-C c.9658G>C p.D3220H Missense 58/78 - 3
8-110497354-G-T c.9658G>T p.D3220Y Missense 58/78 - 1
8-110497356-T-A c.9660T>A p.D3220E Missense 58/78 - 1
8-110497366-C-A c.9670C>A p.L3224I Missense 58/78 - 7
8-110497366-C-T c.9670C>T p.L3224F Missense 58/78 - 1
8-110497372-C-A c.9676C>A p.L3226I Missense 58/78 - 1
8-110497375-A-C c.9679A>C p.N3227H Missense 58/78 - 1
8-110497378-G-A c.9682G>A p.D3228N Missense 58/78 - 1
8-110497382-G-A c.9686G>A p.S3229N Missense 58/78 - 1
8-110497389-C-T c.9693C>T p.S3231= Synonymous 58/78 - 1
8-110497392-T-C c.9696T>C p.Y3232= Synonymous 58/78 - 1
8-110497396-C-T c.9700C>T p.H3234Y Missense 58/78 - 2
8-110497397-A-G c.9701A>G p.H3234R Missense 58/78 - 1
8-110497402-G-C c.9706G>C p.A3236P Missense 58/78 - 2
8-110498090-G-A c.9706+688G>A - IntronicSNV - 58/77 1
8-110498879-G-A c.9709G>A p.E3237K Missense 59/78 - 8
8-110498892-T-A c.9722T>A p.V3241D Missense 59/78 - 1
8-110498895-C-A c.9725C>A p.P3242H Missense 59/78 - 2
8-110498895-C-T c.9725C>T p.P3242L Missense 59/78 - 1
8-110498908-G-A c.9738G>A p.E3246= Synonymous 59/78 - 2
8-110498927-G-A c.9757G>A p.D3253N Missense 59/78 - 1
8-110498927-G-C c.9757G>C p.D3253H Missense 59/78 - 1
8-110498927-G-T c.9757G>T p.D3253Y Missense 59/78 - 1
8-110498933-G-A c.9763G>A p.G3255R Missense 59/78 - 3
8-110498934-G-C c.9764G>C p.G3255A Missense 59/78 - 1
8-110498936-A-C c.9766A>C p.I3256L Missense 59/78 - 1
8-110498936-A-T c.9766A>T p.I3256L Missense 59/78 - 1
8-110498937-T-C c.9767T>C p.I3256T Missense 59/78 - 1
8-110498938-A-G c.9768A>G p.I3256M Missense 59/78 - 4
8-110498939-C-T c.9769C>T p.L3257= Synonymous 59/78 - 1
8-110498941-G-A c.9771G>A p.L3257= Synonymous 59/78 - 2
8-110498941-G-C c.9771G>C p.L3257= Synonymous 59/78 - 1
8-110498941-G-T c.9771G>T p.L3257= Synonymous 59/78 - 1
8-110498945-AG-CT c.9775_9776inv p.R3259L Missense 59/78 - 1
8-110498947-G-A c.9777G>A p.R3259= Synonymous 59/78 - 1
8-110498948-A-G c.9778A>G p.N3260D Missense 59/78 - 1
8-110498956-A-C c.9786A>C p.K3262N Missense 59/78 - 2
8-110498956-A-G c.9786A>G p.K3262= Synonymous 59/78 - 1
8-110498956-A-T c.9786A>T p.K3262N Missense 59/78 - 2
8-110498960-G-A c.9790G>A p.V3264I Missense 59/78 - 1
8-110498968-A-T c.9798A>T p.E3266D Missense 59/78 - 1
8-110498976-C-A c.9806C>A p.P3269H Missense 59/78 - 3
8-110498977-C-T c.9807C>T p.P3269= Synonymous 59/78 - 1
8-110498978-G-A c.9808G>A p.G3270S Missense 59/78 - 6
8-110498980-T-A c.9810T>A p.G3270= Synonymous 59/78 - 1
8-110498980-T-C c.9810T>C p.G3270= Synonymous 59/78 - 1
8-110498980-T-G c.9810T>G p.G3270= Synonymous 59/78 - 1
8-110498985-C-T c.9815C>T p.S3272F Missense 59/78 - 5
8-110498986-T-C c.9816T>C p.S3272= Synonymous 59/78 - 1
8-110498987-G-A c.9817G>A p.E3273K Missense 59/78 - 3
8-110498987-G-C c.9817G>C p.E3273Q Missense 59/78 - 3
8-110498988-A-G c.9818A>G p.E3273G Missense 59/78 - 3
8-110498990-G-A c.9820G>A p.D3274N Missense 59/78 - 5
8-110498999-G-A c.9829G>A p.G3277R Missense 59/78 - 4
8-110499000-G-T c.9830G>T p.G3277V Missense 59/78 - 1
8-110499005-C-T c.9835C>T p.R3279C Missense 59/78 - 16
8-110499007-C-A c.9837C>A p.R3279= Synonymous 59/78 - 4
8-110499007-C-G c.9837C>G p.R3279= Synonymous 59/78 - 5
8-110499007-C-T c.9837C>T p.R3279= Synonymous 59/78 - 5
8-110499011-C-T c.9841C>T p.L3281= Synonymous 59/78 - 4
8-110499018-G-T c.9848G>T p.G3283V Missense 59/78 - 2
8-110499020-T-G c.9850T>G p.S3284A Missense 59/78 - 2
8-110499026-A-G c.9856A>G p.T3286A Missense 59/78 - 1
8-110499029-G-A c.9859G>A p.E3287K Missense 59/78 - 4
8-110499029-G-T c.9859G>T p.E3287* Nonsense 59/78 - 1
8-110499039-T-C c.9869T>C p.M3290T Missense 59/78 - 1
8-110499044-T-C c.9874T>C p.F3292L Missense 59/78 - 1
8-110499044-T-G c.9874T>G p.F3292V Missense 59/78 - 1
8-110499046-T-A c.9876T>A p.F3292L Missense 59/78 - 1
8-110499046-T-G c.9876T>G p.F3292L Missense 59/78 - 1
8-110499046-T-TA c.9879dup p.G3294Rfs*7 SpliceDonorInsertion 59/78 - 1
8-110499049-A-AC c.9879_9880insC p.G3294Rfs*7 SpliceDonorInsertion 59/78 - 1
8-110499049-A-AT c.9879_9880insT p.G3294Wfs*7 SpliceDonorInsertion 59/78 - 1
8-110499049-AG-A c.9880+1del - IntronicDeletion - 59/77 2
8-110499051-G-A c.9880+1G>A - IntronicSNV - 59/77 1
8-110499095-A-G c.9880+45A>G - IntronicSNV - 59/77 1
8-110502179-AG-A c.9881del p.G3294Efs*5 Frameshift 60/78 - 1
8-110502186-G-T c.9886G>T p.A3296S Missense 60/78 - 5
8-110502190-G-A c.9890G>A p.R3297K Missense 60/78 - 5
8-110502190-G-C c.9890G>C p.R3297T Missense 60/78 - 3
8-110502190-G-T c.9890G>T p.R3297I Missense 60/78 - 1
8-110502193-T-G c.9893T>G p.I3298R Missense 60/78 - 3
8-110502195-A-G c.9895A>G p.S3299G Missense 60/78 - 3
8-110502201-G-C c.9901G>C p.V3301L Missense 60/78 - 1
8-110502201-G-T c.9901G>T p.V3301L Missense 60/78 - 1
8-110502204-G-A c.9904G>A p.E3302K Missense 60/78 - 3
8-110502208-T-G c.9908T>G p.F3303C Missense 60/78 - 1
8-110502210-T-C c.9910T>C p.Y3304H Missense 60/78 - 2
8-110502215-C-A c.9915C>A p.H3305Q Missense 60/78 - 1
8-110502215-C-G c.9915C>G p.H3305Q Missense 60/78 - 1
8-110502229-G-A c.9929G>A p.G3310D Missense 60/78 - 1
8-110502232-T-A c.9932T>A p.F3311Y Missense 60/78 - 1
8-110502235-G-T c.9935G>T p.R3312M Missense 60/78 - 1
8-110502237-G-A c.9937G>A p.D3313N Missense 60/78 - 4
8-110502244-C-A c.9944C>A p.T3315K Missense 60/78 - 1
8-110502246-G-A c.9946G>A p.D3316N Missense 60/78 - 2
8-110502249-C-G c.9949C>G p.P3317A Missense 60/78 - 1
8-110502250-C-T c.9950C>T p.P3317L Missense 60/78 - 2
8-110502253-G-A c.9953G>A p.R3318K Missense 60/78 - 1
8-110502253-G-C c.9953G>C p.R3318T Missense 60/78 - 2
8-110502261-G-A c.9961G>A p.V3321I Missense 60/78 - 3
8-110502266-G-A c.9966G>A p.T3322= Synonymous 60/78 - 1
8-110502266-G-C c.9966G>C p.T3322= Synonymous 60/78 - 1
8-110502266-G-T c.9966G>T p.T3322= Synonymous 60/78 - 2
8-110502276-C-T c.9976C>T p.L3326= Synonymous 60/78 - 1
8-110502277-T-C c.9977T>C p.L3326P Missense 60/78 - 1
8-110502282-C-T c.9982C>T p.Q3328* Nonsense 60/78 - 1
8-110503206-A-G c.9990A>G p.Q3330= Synonymous 61/78 - 2
8-110503207-G-A c.9991G>A p.E3331K Missense 61/78 - 1
8-110503207-G-T c.9991G>T p.E3331* Nonsense 61/78 - 3
8-110503208-A-G c.9992A>G p.E3331G Missense 61/78 - 1
8-110503214-G-C c.9998G>C p.G3333A Missense 61/78 - 2
8-110503215-C-A c.9999C>A p.G3333= Synonymous 61/78 - 1
8-110503215-C-G c.9999C>G p.G3333= Synonymous 61/78 - 1
8-110503215-C-T c.9999C>T p.G3333= Synonymous 61/78 - 1
8-110503227-T-G c.10011T>G p.I3337M Missense 61/78 - 1
8-110503228-C-T c.10012C>T p.R3338* Nonsense 61/78 - 5
8-110503229-G-A c.10013G>A p.R3338Q Missense 61/78 - 4
8-110503231-G-A c.10015G>A p.G3339S Missense 61/78 - 1
8-110503233-C-A c.10017C>A p.G3339= Synonymous 61/78 - 1
8-110503233-C-G c.10017C>G p.G3339= Synonymous 61/78 - 1
8-110503233-C-T c.10017C>T p.G3339= Synonymous 61/78 - 1
8-110503252-T-A c.10036T>A p.F3346I Missense 61/78 - 1
8-110503254-C-T c.10038C>T p.F3346= Synonymous 61/78 - 2
8-110503265-T-C c.10049T>C p.I3350T Missense 61/78 - 1
8-110503276-GG-CT c.10060_10061delinsCT p.G3354L Missense 61/78 - 1
8-110503282-G-A c.10066G>A p.D3356N Missense 61/78 - 4
8-110503282-G-C c.10066G>C p.D3356H Missense 61/78 - 4
8-110503285-G-A c.10069G>A p.G3357R Missense 61/78 - 1
8-110503286-G-A c.10070G>A p.G3357E Missense 61/78 - 4
8-110503288-T-A c.10072T>A p.L3358M Missense 61/78 - 3
8-110503293-C-A c.10077C>A p.D3359E Missense 61/78 - 4
8-110503297-G-A c.10081G>A p.D3361N Missense 61/78 - 2
8-110503298-A-T c.10082A>T p.D3361V Missense 61/78 - 1
8-110503306-A-T c.10090A>T p.I3364F Missense 61/78 - 1
8-110503312-C-T c.10096C>T p.H3366Y Missense 61/78 - 2
8-110503319-C-A c.10103C>A p.T3368K Missense 61/78 - 1
8-110503321-G-A c.10105G>A p.V3369M Missense 61/78 - 1
8-110503324-G-A c.10108G>A p.G3370R Missense 61/78 - 4
8-110503324-G-C c.10108G>C p.G3370R Missense 61/78 - 1
8-110503324-GGG-TGT c.10108_10110delinsTGT p.G3370C Missense 61/78 - 1
8-110503325-G-C c.10109G>C p.G3370A Missense 61/78 - 1
8-110503326-G-A c.10110G>A p.G3370= Synonymous 61/78 - 3
8-110503326-G-C c.10110G>C p.G3370= Synonymous 61/78 - 3
8-110503326-G-T c.10110G>T p.G3370= Synonymous 61/78 - 3
8-110503327-G-T c.10111G>T p.E3371* Nonsense 61/78 - 1
8-110503328-A-G c.10112A>G p.E3371G Missense 61/78 - 1
8-110504104-AT-TA c.10117_10118delinsTA p.I3373* Nonsense 62/78 - 1
8-110504105-AT-A c.10118del p.I3373Kfs*14 Frameshift 62/78 - 1
8-110504113-T-A c.10126T>A p.W3376R Missense 62/78 - 1
8-110504113-T-C c.10126T>C p.W3376R Missense 62/78 - 1
8-110504115-G-C c.10128G>C p.W3376C Missense 62/78 - 1
8-110504115-G-T c.10128G>T p.W3376C Missense 62/78 - 1
8-110504117-G-T c.10130G>T p.G3377V Missense 62/78 - 1
8-110504122-G-A c.10135G>A p.A3379T Missense 62/78 - 4
8-110504123-C-T c.10136C>T p.A3379V Missense 62/78 - 1
8-110504128-CG-AT c.10141_10142delinsAT p.R3381I Missense 62/78 - 1
8-110504129-G-A c.10142G>A p.R3381Q Missense 62/78 - 2
8-110504133-C-G c.10146C>G p.V3382= Synonymous 62/78 - 1
8-110504133-C-T c.10146C>T p.V3382= Synonymous 62/78 - 3
8-110504135-G-A c.10148G>A p.R3383Q Missense 62/78 - 4
8-110504135-G-C c.10148G>C p.R3383P Missense 62/78 - 1
8-110504135-G-T c.10148G>T p.R3383L Missense 62/78 - 3
8-110504138-G-A c.10151G>A p.G3384E Missense 62/78 - 1
8-110504138-G-T c.10151G>T p.G3384V Missense 62/78 - 1
8-110504139-G-A c.10152G>A p.G3384= Synonymous 62/78 - 2
8-110504145-G-A c.10158G>A p.L3386= Synonymous 62/78 - 1
8-110504145-G-C c.10158G>C p.L3386F Missense 62/78 - 2
8-110504145-G-T c.10158G>T p.L3386F Missense 62/78 - 1
8-110504150-C-T c.10163C>T p.A3388V Missense 62/78 - 1
8-110504152-C-T c.10165C>T p.L3389F Missense 62/78 - 1
8-110504156-C-T c.10169C>T p.S3390L Missense 62/78 - 3
8-110504157-G-A c.10170G>A p.S3390= Synonymous 62/78 - 1
8-110504157-G-C c.10170G>C p.S3390= Synonymous 62/78 - 1
8-110504157-G-T c.10170G>T p.S3390= Synonymous 62/78 - 1
8-110504158-G-A c.10171G>A p.V3391I Missense 62/78 - 4
8-110504158-G-T c.10171G>T p.V3391F Missense 62/78 - 1
8-110504161-T-A c.10174T>A p.W3392R Missense 62/78 - 1
8-110504164-C-T c.10177C>T p.P3393S Missense 62/78 - 2
8-110504167-G-T c.10180G>T p.G3394* Nonsense 62/78 - 2
8-110504170-A-T c.10183A>T p.T3395S Missense 62/78 - 1
8-110504171-C-G c.10184C>G p.T3395S Missense 62/78 - 1
8-110504172-C-A c.10185C>A p.T3395= Synonymous 62/78 - 1
8-110504172-C-G c.10185C>G p.T3395= Synonymous 62/78 - 1
8-110504172-C-T c.10185C>T p.T3395= Synonymous 62/78 - 1
8-110504178-G-A c.10191G>A p.Q3397= Synonymous 62/78 - 1
8-110504179-A-T c.10192A>T p.N3398Y Missense 62/78 - 1
8-110504188-G-A c.10201G>A p.D3401N Missense 62/78 - 6
8-110504188-G-C c.10201G>C p.D3401H Missense 62/78 - 1
8-110504192-T-A c.10205T>A p.L3402* Nonsense 62/78 - 3
8-110504192-T-G c.10205T>G p.L3402* Nonsense 62/78 - 4
8-110504194-A-G c.10207A>G p.S3403G Missense 62/78 - 1
8-110504206-T-A c.10219T>A p.W3407R Missense 62/78 - 4
8-110504206-T-C c.10219T>C p.W3407R Missense 62/78 - 2
8-110504218-A-G c.10231A>G p.I3411V Missense 62/78 - 6
8-110504221-G-C c.10234G>C p.E3412Q Missense 62/78 - 1
8-110504223-G-C c.10236G>C p.E3412D Missense 62/78 - 2
8-110504223-G-T c.10236G>T p.E3412D Missense 62/78 - 2
8-110504356-T-A c.10236+133T>A - IntronicSNV - 62/77 1
8-110504357-T-A c.10236+134T>A - IntronicSNV - 62/77 1
8-110504358-T-A c.10236+135T>A - IntronicSNV - 62/77 1
8-110504415-C-T c.10236+192C>T - IntronicSNV - 62/77 1
8-110504947-G-A c.10236+724G>A - IntronicSNV - 62/77 1
8-110505710-G-A c.10237-180G>A - IntronicSNV - 62/77 1
8-110505886-C-T c.10237-4C>T - IntronicSNV - 62/77 8
8-110505897-G-A c.10244G>A p.R3415K Missense 63/78 - 1
8-110505897-G-T c.10244G>T p.R3415I Missense 63/78 - 1
8-110505900-G-A c.10247G>A p.G3416E Missense 63/78 - 2
8-110505901-G-A c.10248G>A p.G3416= Synonymous 63/78 - 2
8-110505906-A-G c.10253A>G p.N3418S Missense 63/78 - 1
8-110505913-T-C c.10260T>C p.V3420= Synonymous 63/78 - 3
8-110505919-G-A c.10266G>A p.Q3422= Synonymous 63/78 - 1
8-110505922-T-A c.10269T>A p.N3423K Missense 63/78 - 1
8-110505922-T-G c.10269T>G p.N3423K Missense 63/78 - 1
8-110505929-G-T c.10276G>T p.V3426L Missense 63/78 - 1
8-110505932-G-T c.10279G>T p.A3427S Missense 63/78 - 1
8-110505936-G-C c.10283G>C p.G3428A Missense 63/78 - 1
8-110505942-G-A c.10289G>A p.G3430E Missense 63/78 - 2
8-110505951-G-A c.10298G>A p.G3433E Missense 63/78 - 2
8-110505955-C-T c.10302C>T p.Y3434= Synonymous 63/78 - 1
8-110505956-C-T c.10303C>T p.R3435C Missense 63/78 - 2
8-110505957-G-A c.10304G>A p.R3435H Missense 63/78 - 3
8-110505963-A-G c.10310A>G p.D3437G Missense 63/78 - 7
8-110505965-G-A c.10312G>A p.G3438S Missense 63/78 - 2
8-110505970-A-G c.10317A>G p.E3439= Synonymous 63/78 - 1
8-110505971-C-T c.10318C>T p.P3440S Missense 63/78 - 3
8-110505974-TG-AC c.10321_10322delinsAC p.C3441T Missense 63/78 - 1
8-110506104-T-G c.10327+124T>G - IntronicSNV - 63/77 3
8-110507633-G-A c.10328-1515G>A - IntronicSNV - 63/77 1
8-110508884-A-G c.10328-264A>G - IntronicSNV - 63/77 1
8-110508933-G-A c.10328-215G>A - IntronicSNV - 63/77 1
8-110509152-G-C c.10332G>C p.Q3444H Missense 64/78 - 1
8-110509152-G-T c.10332G>T p.Q3444H Missense 64/78 - 1
8-110509153-T-C c.10333T>C p.F3445L Missense 64/78 - 1
8-110509155-T-A c.10335T>A p.F3445L Missense 64/78 - 1
8-110509155-T-G c.10335T>G p.F3445L Missense 64/78 - 1
8-110509159-C-G c.10339C>G p.P3447A Missense 64/78 - 1
8-110509160-C-T c.10340C>T p.P3447L Missense 64/78 - 1
8-110509162-G-C c.10342G>C p.V3448L Missense 64/78 - 2
8-110509162-G-T c.10342G>T p.V3448L Missense 64/78 - 1
8-110509169-A-T c.10349A>T p.K3450M Missense 64/78 - 3
8-110509170-G-C c.10350G>C p.K3450N Missense 64/78 - 3
8-110509170-G-T c.10350G>T p.K3450N Missense 64/78 - 2
8-110509177-G-C c.10357G>C p.D3453H Missense 64/78 - 3
8-110509186-G-T c.10366G>T p.A3456S Missense 64/78 - 1
8-110509188-C-T c.10368C>T p.A3456= Synonymous 64/78 - 3
8-110509192-G-A c.10372G>A p.G3458R Missense 64/78 - 3
8-110509192-G-C c.10372G>C p.G3458R Missense 64/78 - 1
8-110509197-T-A c.10377T>A p.G3459= Synonymous 64/78 - 1
8-110509197-T-C c.10377T>C p.G3459= Synonymous 64/78 - 1
8-110509197-T-G c.10377T>G p.G3459= Synonymous 64/78 - 1
8-110509204-G-T c.10384G>T p.G3462W Missense 64/78 - 2
8-110509205-G-A c.10385G>A p.G3462E Missense 64/78 - 3
8-110509206-G-A c.10386G>A p.G3462= Synonymous 64/78 - 4
8-110509206-G-C c.10386G>C p.G3462= Synonymous 64/78 - 1
8-110509206-G-T c.10386G>T p.G3462= Synonymous 64/78 - 1
8-110509211-A-G c.10391A>G p.Y3464C Missense 64/78 - 3
8-110509215-G-A c.10395G>A p.M3465I Missense 64/78 - 5
8-110509218-C-A c.10398C>A p.N3466K Missense 64/78 - 2
8-110509218-C-G c.10398C>G p.N3466K Missense 64/78 - 2
8-110509226-G-C c.10406G>C p.G3469A Missense 64/78 - 1
8-110509227-C-T c.10407C>T p.G3469= Synonymous 64/78 - 1
8-110509228-C-A c.10408C>A p.L3470I Missense 64/78 - 3
8-110509228-C-T c.10408C>T p.L3470F Missense 64/78 - 1
8-110509231-C-T c.10411C>T p.P3471S Missense 64/78 - 1
8-110509232-C-A c.10412C>A p.P3471H Missense 64/78 - 2
8-110509233-CT-C c.10413del p.G3472Dfs*31 Frameshift 64/78 - 1
8-110509237-T-C c.10417T>C p.C3473R Missense 64/78 - 1
8-110509241-C-T c.10421C>T p.S3474F Missense 64/78 - 4
8-110509244-T-A c.10424T>A p.L3475H Missense 64/78 - 6
8-110509245-T-G c.10425T>G p.L3475= Synonymous 64/78 - 1
8-110509252-G-T c.10432G>T p.G3478* Nonsense 64/78 - 1
8-110509253-G-A c.10433G>A p.G3478E Missense 64/78 - 4
8-110509258-A-G c.10438A>G p.T3480A Missense 64/78 - 1
8-110509259-C-A c.10439C>A p.T3480N Missense 64/78 - 1
8-110509266-G-C c.10446G>C p.W3482C Missense 64/78 - 4
8-110509267-A-G c.10447A>G p.T3483A Missense 64/78 - 1
8-110509268-C-A c.10448C>A p.T3483K Missense 64/78 - 3
8-110509271-G-A c.10451G>A p.C3484Y Missense 64/78 - 1
8-110509272-C-G c.10452C>G p.C3484W Missense 64/78 - 2
8-110509272-C-T c.10452C>T p.C3484= Synonymous 64/78 - 1
8-110509274-G-A c.10454G>A p.W3485* Nonsense 64/78 - 2
8-110509274-G-T c.10454G>T p.W3485L Missense 64/78 - 1
8-110509276-G-A c.10456G>A p.D3486N Missense 64/78 - 5
8-110509279-T-A c.10459T>A p.Y3487N Missense 64/78 - 2
8-110509294-C-T c.10474C>T p.Q3492* Nonsense 64/78 - 1
8-110509297-G-T c.10476+1G>T - IntronicSNV - 64/77 1
8-110509300-A-T c.10476+4A>T - IntronicSNV - 64/77 1
8-110509330-T-C c.10476+34T>C - IntronicSNV - 64/77 1
8-110509385-G-A c.10483G>A p.E3495K Missense 65/78 - 1
8-110509385-G-T c.10483G>T p.E3495* Nonsense 65/78 - 1
8-110509389-G-A c.10487G>A p.S3496N Missense 65/78 - 1
8-110509391-G-A c.10489G>A p.V3497M Missense 65/78 - 1
8-110509396-C-A c.10494C>A p.H3498Q Missense 65/78 - 2
8-110509396-C-G c.10494C>G p.H3498Q Missense 65/78 - 2
8-110509412-C-A c.10510C>A p.L3504M Missense 65/78 - 1
8-110509423-T-C c.10521T>C p.N3507= Synonymous 65/78 - 1
8-110509430-G-A c.10528G>A p.A3510T Missense 65/78 - 1
8-110509439-C-T c.10537C>T p.P3513S Missense 65/78 - 3
8-110509440-C-T c.10538C>T p.P3513L Missense 65/78 - 2
8-110509441-A-C c.10539A>C p.P3513= Synonymous 65/78 - 1
8-110509441-A-G c.10539A>G p.P3513= Synonymous 65/78 - 1
8-110509441-A-T c.10539A>T p.P3513= Synonymous 65/78 - 1
8-110509445-A-C c.10543A>C p.I3515L Missense 65/78 - 3
8-110509450-C-A c.10548C>A p.Y3516* Nonsense 65/78 - 1
8-110509450-C-G c.10548C>G p.Y3516* Nonsense 65/78 - 1
8-110509450-C-T c.10548C>T p.Y3516= Synonymous 65/78 - 1
8-110509453-G-T c.10551G>T p.M3517I Missense 65/78 - 1
8-110509454-C-T c.10552C>T p.P3518S Missense 65/78 - 1
8-110509456-A-T c.10554A>T p.P3518= Synonymous 65/78 - 1
8-110509462-T-A c.10560T>A p.A3520= Synonymous 65/78 - 1
8-110509462-T-C c.10560T>C p.A3520= Synonymous 65/78 - 1
8-110509462-T-G c.10560T>G p.A3520= Synonymous 65/78 - 1
8-110509468-A-C c.10566A>C p.S3522= Synonymous 65/78 - 1
8-110509468-A-G c.10566A>G p.S3522= Synonymous 65/78 - 1
8-110509468-A-T c.10566A>T p.S3522= Synonymous 65/78 - 1
8-110509474-A-G c.10572A>G p.K3524= Synonymous 65/78 - 1
8-110509475-A-C c.10573A>C p.I3525L Missense 65/78 - 2
8-110509479-CC-AA c.10577_10578delinsAA p.S3526* Nonsense 65/78 - 1
8-110509479-C-G c.10577C>G p.S3526C Missense 65/78 - 2
8-110509479-C-T c.10577C>T p.S3526F Missense 65/78 - 6
8-110509485-A-C c.10583A>C p.K3528T Missense 65/78 - 1
8-110509483-T-TA c.10586dup p.N3529Kfs*5 Frameshift 65/78 - 1
8-110509488-A-C c.10586A>C p.N3529T Missense 65/78 - 1
8-110509490-G-A c.10588G>A p.V3530I Missense 65/78 - 1
8-110509495-A-C c.10593A>C p.Q3531H Missense 65/78 - 1
8-110509495-A-T c.10593A>T p.Q3531H Missense 65/78 - 1
8-110509501-AGGTAAGAAATTAATACAGCCACACCATGGAGAAAAAAATAACTTGGAGAAGGGTGGAAT-A c.10599_10599+58del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 65/78 65/77 1
8-110509573-A-C c.10599+72A>C - IntronicSNV - 65/77 1
8-110509583-TCTC-T c.10599+85_10599+87del - IntronicDeletion - 65/77 1
8-110510692-G-A c.10601G>A p.S3534N Missense 66/78 - 1
8-110510693-C-T c.10602C>T p.S3534= Synonymous 66/78 - 3
8-110510695-C-T c.10604C>T p.S3535L Missense 66/78 - 2
8-110510707-G-A c.10616G>A p.G3539E Missense 66/78 - 2
8-110510713-G-A c.10622G>A p.S3541N Missense 66/78 - 1
8-110510714-C-A c.10623C>A p.S3541R Missense 66/78 - 1
8-110510719-G-T c.10628G>T p.G3543V Missense 66/78 - 1
8-110510723-T-C c.10632T>C p.F3544= Synonymous 66/78 - 2
8-110510731-C-T c.10640C>T p.S3547F Missense 66/78 - 1
8-110510733-G-C c.10642G>C p.D3548H Missense 66/78 - 1
8-110510734-A-C c.10643A>C p.D3548A Missense 66/78 - 2
8-110510744-T-A c.10653T>A p.T3551= Synonymous 66/78 - 1
8-110510744-T-C c.10653T>C p.T3551= Synonymous 66/78 - 1
8-110510744-T-G c.10653T>G p.T3551= Synonymous 66/78 - 1
8-110510754-C-T c.10663C>T p.P3555S Missense 66/78 - 3
8-110510755-C-T c.10664C>T p.P3555L Missense 66/78 - 5
8-110510763-G-A c.10672G>A p.E3558K Missense 66/78 - 2
8-110510772-G-A c.10681G>A p.A3561T Missense 66/78 - 1
8-110510773-C-A c.10682C>A p.A3561D Missense 66/78 - 1
8-110510773-C-T c.10682C>T p.A3561V Missense 66/78 - 1
8-110510776-C-T c.10685C>T p.A3562V Missense 66/78 - 2
8-110510777-T-A c.10686T>A p.A3562= Synonymous 66/78 - 1
8-110510777-T-C c.10686T>C p.A3562= Synonymous 66/78 - 1
8-110510777-T-G c.10686T>G p.A3562= Synonymous 66/78 - 1
8-110510781-C-T c.10690C>T p.R3564W Missense 66/78 - 2
8-110510782-G-A c.10691G>A p.R3564Q Missense 66/78 - 4
8-110510782-G-C c.10691G>C p.R3564P Missense 66/78 - 1
8-110510783-G-A c.10692G>A p.R3564= Synonymous 66/78 - 1
8-110510784-A-C c.10693A>C p.S3565R Missense 66/78 - 1
8-110510786-T-A c.10695T>A p.S3565R Missense 66/78 - 2
8-110510786-T-C c.10695T>C p.S3565= Synonymous 66/78 - 1
8-110510786-T-G c.10695T>G p.S3565R Missense 66/78 - 1
8-110510787-C-T c.10696C>T p.P3566S Missense 66/78 - 2
8-110510796-C-T c.10705C>T p.P3569S Missense 66/78 - 5
8-110510886-G-C c.10714G>C p.G3572R Missense 67/78 - 1
8-110510888-G-A c.10716G>A p.G3572= Synonymous 67/78 - 3
8-110510897-G-A c.10725G>A p.G3575= Synonymous 67/78 - 2
8-110510903-T-C c.10731T>C p.C3577= Synonymous 67/78 - 1
8-110510904-T-G c.10732T>G p.W3578G Missense 67/78 - 1
8-110510909-T-C c.10737T>C p.P3579= Synonymous 67/78 - 2
8-110510913-T-A c.10741T>A p.F3581I Missense 67/78 - 2
8-110510925-C-T c.10753C>T p.H3585Y Missense 67/78 - 1
8-110510937-C-T c.10765C>T p.P3589S Missense 67/78 - 1
8-110510938-C-T c.10766C>T p.P3589L Missense 67/78 - 1
8-110510939-C-A c.10767C>A p.P3589= Synonymous 67/78 - 1
8-110510940-C-T c.10768C>T p.R3590* Nonsense 67/78 - 1
8-110510941-G-A c.10769G>A p.R3590Q Missense 67/78 - 2
8-110510956-G-A c.10784G>A p.G3595E Missense 67/78 - 1
8-110510956-G-C c.10784G>C p.G3595A Missense 67/78 - 1
8-110510958-A-G c.10786A>G p.I3596V Missense 67/78 - 1
8-110510960-C-T c.10788C>T p.I3596= Synonymous 67/78 - 3
8-110510963-G-A c.10791G>A p.M3597I Missense 67/78 - 2
8-110510964-A-G c.10792A>G p.S3598G Missense 67/78 - 1
8-110510964-A-C c.10792A>C p.S3598R Missense 67/78 - 10
8-110510966-T-A c.10794T>A p.S3598R Missense 67/78 - 3
8-110510966-T-G c.10794T>G p.S3598R Missense 67/78 - 3
8-110510968-A-G c.10796A>G p.Y3599C Missense 67/78 - 1
8-110510969-C-A c.10797C>A p.Y3599* Nonsense 67/78 - 1
8-110510971-A-C c.10799A>C p.N3600T Missense 67/78 - 1
8-110510973-G-A c.10801G>A p.A3601T Missense 67/78 - 2
8-110510974-C-T c.10802C>T p.A3601V Missense 67/78 - 1
8-110510979-A-G c.10807A>G p.S3603G Missense 67/78 - 2
8-110510984-C-A c.10812C>A p.G3604= Synonymous 67/78 - 2
8-110510984-C-G c.10812C>G p.G3604= Synonymous 67/78 - 2
8-110510984-C-T c.10812C>T p.G3604= Synonymous 67/78 - 2
8-110510985-C-T c.10813C>T p.L3605F Missense 67/78 - 1
8-110510992-A-G c.10820A>G p.D3607G Missense 67/78 - 1
8-110510993-C-A c.10821C>A p.D3607E Missense 67/78 - 4
8-110510993-C-G c.10821C>G p.D3607E Missense 67/78 - 2
8-110510997-T-G c.10825T>G p.S3609A Missense 67/78 - 1
8-110510998-C-T c.10826C>T p.S3609L Missense 67/78 - 2
8-110515943-C-T c.10829-613C>T - IntronicSNV - 67/77 1
8-110516330-A-G c.10829-226A>G - IntronicSNV - 67/77 1
8-110516527-T-A c.10829-29T>A - IntronicSNV - 67/77 6
8-110516527-T-C c.10829-29T>C - IntronicSNV - 67/77 6
8-110516533-C-T c.10829-23C>T - IntronicSNV - 67/77 1
8-110516568-T-C c.10841T>C p.V3614A Missense 68/78 - 1
8-110516570-G-T c.10843G>T p.G3615* Nonsense 68/78 - 3
8-110516574-T-G c.10847T>G p.F3616C Missense 68/78 - 1
8-110516578-G-C c.10851G>C p.K3617N Missense 68/78 - 1
8-110516578-G-T c.10851G>T p.K3617N Missense 68/78 - 1
8-110516582-G-C c.10855G>C p.V3619L Missense 68/78 - 1
8-110516585-TG-AC c.10858_10859delinsAC p.C3620T Missense 68/78 - 1
8-110516589-C-T c.10862C>T p.S3621L Missense 68/78 - 1
8-110516593-G-A c.10866G>A p.G3622= Synonymous 68/78 - 1
8-110516593-G-C c.10866G>C p.G3622= Synonymous 68/78 - 1
8-110516593-G-T c.10866G>T p.G3622= Synonymous 68/78 - 2
8-110516594-G-A c.10867G>A p.E3623K Missense 68/78 - 2
8-110516597-A-T c.10870A>T p.T3624S Missense 68/78 - 1
8-110516598-C-A c.10871C>A p.T3624N Missense 68/78 - 3
8-110516602-AT-A c.10875del p.N3625Kfs*9 Frameshift 68/78 - 1
8-110516611-C-T c.10884C>T p.F3628= Synonymous 68/78 - 2
8-110516614-T-G c.10887T>G p.I3629M Missense 68/78 - 1
8-110516622-C-T c.10895C>T p.P3632L Missense 68/78 - 1
8-110516630-G-A c.10903G>A p.E3635K Missense 68/78 - 4
8-110516633-G-A c.10906G>A p.D3636N Missense 68/78 - 1
8-110516633-G-C c.10906G>C p.D3636H Missense 68/78 - 1
8-110516641-G-C c.10914G>C p.Q3638H Missense 68/78 - 1
8-110516641-G-T c.10914G>T p.Q3638H Missense 68/78 - 2
8-110516651-C-T c.10924C>T p.H3642Y Missense 68/78 - 4
8-110516653-T-C c.10926T>C p.H3642= Synonymous 68/78 - 1
8-110516656-G-A c.10929G>A p.V3643= Synonymous 68/78 - 1
8-110516659-G-A c.10932G>A p.K3644= Synonymous 68/78 - 1
8-110516659-G-C c.10932G>C p.K3644N Missense 68/78 - 1
8-110516659-G-T c.10932G>T p.K3644N Missense 68/78 - 1
8-110516662-T-A c.10935T>A p.N3645K Missense 68/78 - 1
8-110516662-T-G c.10935T>G p.N3645K Missense 68/78 - 1
8-110516664-T-C c.10937T>C p.I3646T Missense 68/78 - 1
8-110516669-C-T c.10942C>T p.L3648= Synonymous 68/78 - 1
8-110516671-G-T c.10944G>T p.L3648= Synonymous 68/78 - 1
8-110516672-G-C c.10945G>C p.V3649L Missense 68/78 - 1
8-110516674-T-A c.10947T>A p.V3649= Synonymous 68/78 - 1
8-110516674-T-C c.10947T>C p.V3649= Synonymous 68/78 - 1
8-110516674-T-G c.10947T>G p.V3649= Synonymous 68/78 - 1
8-110516687-C-A c.10960C>A p.Q3654K Missense 68/78 - 1
8-110516696-A-G c.10969A>G p.I3657V Missense 68/78 - 1
8-110516697-T-C c.10970T>C p.I3657T Missense 68/78 - 1
8-110516708-A-G c.10981A>G p.R3661G Missense 68/78 - 1
8-110516711-C-A c.10984C>A p.P3662T Missense 68/78 - 1
8-110516711-C-G c.10984C>G p.P3662A Missense 68/78 - 1
8-110516713-T-A c.10986T>A p.P3662= Synonymous 68/78 - 1
8-110516713-T-C c.10986T>C p.P3662= Synonymous 68/78 - 1
8-110516713-T-G c.10986T>G p.P3662= Synonymous 68/78 - 1
8-110519814-T-C c.10995-78T>C - IntronicSNV - 68/77 4
8-110519901-T-C c.11004T>C p.N3668= Synonymous 69/78 - 1
8-110519903-C-T c.11006C>T p.P3669L Missense 69/78 - 2
8-110519910-T-A c.11013T>A p.D3671E Missense 69/78 - 1
8-110519910-T-G c.11013T>G p.D3671E Missense 69/78 - 1
8-110519921-T-G c.11024T>G p.M3675R Missense 69/78 - 1
8-110519923-G-A c.11026G>A p.V3676I Missense 69/78 - 1
8-110519927-G-A c.11030G>A p.C3677Y Missense 69/78 - 2
8-110519933-C-T c.11036C>T p.A3679V Missense 69/78 - 1
8-110519935-A-C c.11038A>C p.K3680Q Missense 69/78 - 1
8-110519939-G-A c.11042G>A p.R3681K Missense 69/78 - 1
8-110519940-G-A c.11043G>A p.R3681= Synonymous 69/78 - 1
8-110519945-C-A c.11048C>A p.S3683Y Missense 69/78 - 1
8-110519945-C-T c.11048C>T p.S3683F Missense 69/78 - 1
8-110519951-T-A c.11054T>A p.L3685H Missense 69/78 - 1
8-110519951-T-C c.11054T>C p.L3685P Missense 69/78 - 2
8-110519953-A-G c.11056A>G p.R3686G Missense 69/78 - 1
8-110519954-G-A c.11057G>A p.R3686K Missense 69/78 - 4
8-110519954-G-C c.11057G>C p.R3686T Missense 69/78 - 3
8-110519956-G-A c.11059G>A p.D3687N Missense 69/78 - 1
8-110519956-G-T c.11059G>T p.D3687Y Missense 69/78 - 1
8-110519958-C-A c.11061C>A p.D3687E Missense 69/78 - 1
8-110519958-C-T c.11061C>T p.D3687= Synonymous 69/78 - 1
8-110519964-T-A c.11067T>A p.D3689E Missense 69/78 - 1
8-110519964-T-G c.11067T>G p.D3689E Missense 69/78 - 1
8-110519966-G-A c.11069G>A p.G3690D Missense 69/78 - 5
8-110519966-G-T c.11069G>T p.G3690V Missense 69/78 - 1
8-110519969-C-T c.11072C>T p.S3691F Missense 69/78 - 4
8-110519970-C-A c.11073C>A p.S3691= Synonymous 69/78 - 1
8-110519970-C-G c.11073C>G p.S3691= Synonymous 69/78 - 1
8-110519970-C-T c.11073C>T p.S3691= Synonymous 69/78 - 2
8-110519975-T-C c.11078T>C p.L3693P Missense 69/78 - 1
8-110519977-G-A c.11080G>A p.G3694R Missense 69/78 - 3
8-110519978-G-A c.11081G>A p.G3694E Missense 69/78 - 1
8-110519975-TG-T c.11082del p.N3695Mfs*5 Frameshift 69/78 - 1
8-110519979-G-GT c.11082_11083insT p.N3695* Nonsense 69/78 - 1
8-110519979-GA-G c.11084del p.N3695Mfs*5 Frameshift 69/78 - 2
8-110519981-AT-TG c.11084_11085delinsTG p.N3695M Missense 69/78 - 1
8-110519983-G-T c.11086G>T p.A3696S Missense 69/78 - 1
8-110519987-G-A c.11090G>A p.G3697D Missense 69/78 - 1
8-110519990-CTG-C c.11096_11097del p.V3699Dfs*7 Frameshift 69/78 - 1
8-110519994-G-C c.11097G>C p.V3699= Synonymous 69/78 - 1
8-110519998-C-G c.11101C>G p.P3701A Missense 69/78 - 1
8-110520001-C-T c.11104C>T p.Q3702* Nonsense 69/78 - 1
8-110520010-T-A c.11113T>A p.Y3705N Missense 69/78 - 2
8-110520013-G-A c.11116G>A p.E3706K Missense 69/78 - 3
8-110520019-G-T c.11122G>T p.D3708Y Missense 69/78 - 1
8-110520021-C-T c.11124C>T p.D3708= Synonymous 69/78 - 5
8-110520022-G-A c.11125G>A p.G3709R Missense 69/78 - 6
8-110520022-G-C c.11125G>C p.G3709R Missense 69/78 - 2
8-110520023-G-A c.11126G>A p.G3709E Missense 69/78 - 1
8-110520029-G-C c.11132G>C p.S3711T Missense 69/78 - 1
8-110520034-G-C c.11137G>C p.V3713L Missense 69/78 - 1
8-110520037-G-A c.11140G>A p.G3714R Missense 69/78 - 2
8-110520037-G-C c.11140G>C p.G3714R Missense 69/78 - 1
8-110520038-G-A c.11141G>A p.G3714E Missense 69/78 - 3
8-110520038-G-C c.11141G>C p.G3714A Missense 69/78 - 2
8-110520039-A-G c.11142A>G p.G3714= Synonymous 69/78 - 1
8-110520048-C-T c.11151C>T p.D3717= Synonymous 69/78 - 1
8-110520054-A-C c.11157A>C p.R3719S Missense 69/78 - 1
8-110520054-A-T c.11157A>T p.R3719S Missense 69/78 - 1
8-110520058-C-A c.11161C>A p.P3721T Missense 69/78 - 1
8-110520058-C-T c.11161C>T p.P3721S Missense 69/78 - 7
8-110520061-A-G c.11164A>G p.K3722E Missense 69/78 - 5
8-110520064-G-A c.11167G>A p.A3723T Missense 69/78 - 1
8-110520065-C-T c.11168C>T p.A3723V Missense 69/78 - 3
8-110520070-C-T c.11173C>T p.L3725F Missense 69/78 - 1
8-110520074-C-T c.11177C>T p.T3726I Missense 69/78 - 1
8-110520076-T-C c.11179T>C p.F3727L Missense 69/78 - 1
8-110520078-C-A c.11181C>A p.F3727L Missense 69/78 - 1
8-110520078-C-G c.11181C>G p.F3727L Missense 69/78 - 1
8-110520077-T-A c.11180T>A p.F3727Y Missense 69/78 - 1
8-110520079-T-G c.11182T>G p.L3728V Missense 69/78 - 2
8-110520097-C-T c.11200C>T p.P3734S Missense 69/78 - 4
8-110520098-C-T c.11201C>T p.P3734L Missense 69/78 - 5
8-110520104-C-T c.11207C>T p.T3736I Missense 69/78 - 2
8-110520106-G-A c.11209G>A p.E3737K Missense 69/78 - 2
8-110520124-G-A c.11227G>A p.G3743R Missense 69/78 - 3
8-110520124-G-T c.11227G>T p.G3743* Nonsense 69/78 - 1
8-110520326-G-A c.11228G>A p.G3743E Missense 70/78 - 5
8-110520333-T-G c.11235T>G p.I3745M Missense 70/78 - 3
8-110520335-G-C c.11237G>C p.R3746T Missense 70/78 - 1
8-110520337-G-A c.11239G>A p.D3747N Missense 70/78 - 1
8-110520338-A-G c.11240A>G p.D3747G Missense 70/78 - 1
8-110520341-C-T c.11243C>T p.S3748L Missense 70/78 - 1
8-110520343-A-G c.11245A>G p.T3749A Missense 70/78 - 2
8-110520346-T-G c.11248T>G p.C3750G Missense 70/78 - 1
8-110520354-C-A c.11256C>A p.Y3752* Nonsense 70/78 - 1
8-110520355-C-A c.11257C>A p.L3753I Missense 70/78 - 1
8-110520355-C-T c.11257C>T p.L3753F Missense 70/78 - 5
8-110520359-C-T c.11261C>T p.P3754L Missense 70/78 - 1
8-110520367-C-T c.11269C>T p.Q3757* Nonsense 70/78 - 1
8-110520376-C-T c.11278C>T p.Q3760* Nonsense 70/78 - 2
8-110520381-C-A c.11283C>A p.C3761* Nonsense 70/78 - 1
8-110520386-G-C c.11288G>C p.G3763A Missense 70/78 - 1
8-110520387-G-A c.11289G>A p.G3763= Synonymous 70/78 - 2
8-110520390-G-A c.11292G>A p.M3764I Missense 70/78 - 1
8-110520402-G-A c.11304G>A p.M3768I Missense 70/78 - 1
8-110520402-G-C c.11304G>C p.M3768I Missense 70/78 - 2
8-110520402-G-T c.11304G>T p.M3768I Missense 70/78 - 1
8-110520405-G-A c.11307G>A p.M3769I Missense 70/78 - 1
8-110520410-T-C c.11312T>C p.I3771T Missense 70/78 - 1
8-110520414-A-C c.11316A>C p.E3772D Missense 70/78 - 1
8-110520414-A-T c.11316A>T p.E3772D Missense 70/78 - 1
8-110520420-G-A c.11322G>A p.L3774= Synonymous 70/78 - 2
8-110520424-C-G c.11326C>G p.P3776A Missense 70/78 - 1
8-110520433-G-A c.11335G>A p.E3779K Missense 70/78 - 2
8-110520439-C-A c.11341C>A p.R3781= Synonymous 70/78 - 1
8-110520441-A-C c.11343A>C p.R3781= Synonymous 70/78 - 1
8-110520441-A-G c.11343A>G p.R3781= Synonymous 70/78 - 1
8-110520441-A-T c.11343A>T p.R3781= Synonymous 70/78 - 1
8-110520440-G-A c.11342G>A p.R3781Q Missense 70/78 - 4
8-110520448-T-C c.11350T>C p.S3784P Missense 70/78 - 4
8-110520449-C-T c.11351C>T p.S3784F Missense 70/78 - 1
8-110520450-C-T c.11352C>T p.S3784= Synonymous 70/78 - 2
8-110520451-C-A c.11353C>A p.P3785T Missense 70/78 - 1
8-110520457-G-T c.11359G>T p.A3787S Missense 70/78 - 1
8-110520461-T-C c.11363T>C p.I3788T Missense 70/78 - 1
8-110520468-C-A c.11370C>A p.G3790= Synonymous 70/78 - 1
8-110520468-C-G c.11370C>G p.G3790= Synonymous 70/78 - 1
8-110520468-C-T c.11370C>T p.G3790= Synonymous 70/78 - 2
8-110520471-C-T c.11373C>T p.N3791= Synonymous 70/78 - 2
8-110520472-G-A c.11374G>A p.G3792S Missense 70/78 - 6
8-110520481-G-T c.11383G>T p.D3795Y Missense 70/78 - 1
8-110520483-T-C c.11385T>C p.D3795= Synonymous 70/78 - 1
8-110520521-A-G c.11395+28A>G - IntronicSNV - 70/77 1
8-110522772-G-A c.11396-234G>A - IntronicSNV - 70/77 1
8-110522965-T-C c.11396-41T>C - IntronicSNV - 70/77 5
8-110523013-G-A c.11403G>A p.Q3801= Synonymous 71/78 - 1
8-110523017-C-T c.11407C>T p.H3803Y Missense 71/78 - 1
8-110523018-A-G c.11408A>G p.H3803R Missense 71/78 - 4
8-110523019-T-C c.11409T>C p.H3803= Synonymous 71/78 - 1
8-110523026-T-G c.11416T>G p.C3806G Missense 71/78 - 3
8-110523027-G-A c.11417G>A p.C3806Y Missense 71/78 - 1
8-110523027-G-T c.11417G>T p.C3806F Missense 71/78 - 1
8-110523028-T-A c.11418T>A p.C3806* Nonsense 71/78 - 2
8-110523029-G-A c.11419G>A p.A3807T Missense 71/78 - 3
8-110523031-T-A c.11421T>A p.A3807= Synonymous 71/78 - 1
8-110523033-G-A c.11423G>A p.G3808E Missense 71/78 - 4
8-110523038-A-G c.11428A>G p.T3810A Missense 71/78 - 1
8-110523039-C-T c.11429C>T p.T3810I Missense 71/78 - 1
8-110523044-C-A c.11434C>A p.Q3812K Missense 71/78 - 1
8-110523048-G-A c.11438G>A p.R3813K Missense 71/78 - 4
8-110523047-A-C c.11437A>C p.R3813= Synonymous 71/78 - 1
8-110523049-A-G c.11439A>G p.R3813= Synonymous 71/78 - 1
8-110523053-C-T c.11443C>T p.L3815= Synonymous 71/78 - 1
8-110523055-G-A c.11445G>A p.L3815= Synonymous 71/78 - 1
8-110523055-G-C c.11445G>C p.L3815= Synonymous 71/78 - 1
8-110523055-G-T c.11445G>T p.L3815= Synonymous 71/78 - 1
8-110523056-T-C c.11446T>C p.S3816P Missense 71/78 - 1
8-110523057-C-T c.11447C>T p.S3816F Missense 71/78 - 1
8-110523059-C-A c.11449C>A p.L3817M Missense 71/78 - 1
8-110523059-C-T c.11449C>T p.L3817= Synonymous 71/78 - 1
8-110523065-C-T c.11455C>T p.H3819Y Missense 71/78 - 1
8-110523066-A-C c.11456A>C p.H3819P Missense 71/78 - 1
8-110523068-AG-CC c.11458_11459delinsCC p.S3820P Missense 71/78 - 1
8-110523072-T-C c.11462T>C p.I3821T Missense 71/78 - 1
8-110523074-G-A c.11464G>A p.V3822M Missense 71/78 - 1
8-110523075-T-A c.11465T>A p.V3822E Missense 71/78 - 1
8-110523080-C-T c.11470C>T p.L3824= Synonymous 71/78 - 1
8-110523082-G-A c.11472G>A p.L3824= Synonymous 71/78 - 2
8-110523082-G-C c.11472G>C p.L3824= Synonymous 71/78 - 1
8-110523082-G-T c.11472G>T p.L3824= Synonymous 71/78 - 1
8-110523083-A-C c.11473A>C p.N3825H Missense 71/78 - 1
8-110523088-ATCT-A c.11480_11482del p.S3827del InFrameDeletion 71/78 - 1
8-110523093-A-AT c.11484dup p.E3829* Nonsense 71/78 - 1
8-110523095-TG-T c.11485del p.E3829Kfs*14 Frameshift 71/78 - 1
8-110523098-G-A c.11488G>A p.V3830I Missense 71/78 - 1
8-110523102-A-G c.11492A>G p.Y3831C Missense 71/78 - 1
8-110523106-C-G c.11496C>G p.F3832L Missense 71/78 - 1
8-110523106-C-T c.11496C>T p.F3832= Synonymous 71/78 - 1
8-110523110-G-C c.11500G>C p.G3834R Missense 71/78 - 2
8-110523119-C-A c.11509C>A p.P3837T Missense 71/78 - 2
8-110523124-G-A c.11514G>A p.Q3838= Synonymous 71/78 - 1
8-110523128-C-A c.11518C>A p.L3840I Missense 71/78 - 2
8-110523131-C-A c.11521C>A p.R3841= Synonymous 71/78 - 1
8-110523131-C-T c.11521C>T p.R3841* Nonsense 71/78 - 5
8-110523132-G-A c.11522G>A p.R3841Q Missense 71/78 - 2
8-110523134-CTG-TTT c.11524_11526delinsTTT p.L3842F Missense 71/78 - 1
8-110523134-C-T c.11524C>T p.L3842= Synonymous 71/78 - 2
8-110523136-G-A c.11526G>A p.L3842= Synonymous 71/78 - 5
8-110523136-G-C c.11526G>C p.L3842= Synonymous 71/78 - 2
8-110523136-G-T c.11526G>T p.L3842= Synonymous 71/78 - 2
8-110523146-A-G c.11536A>G p.N3846D Missense 71/78 - 1
8-110523147-A-G c.11537A>G p.N3846S Missense 71/78 - 1
8-110523152-G-C c.11542G>C p.D3848H Missense 71/78 - 2
8-110523159-A-G c.11549A>G p.N3850S Missense 71/78 - 1
8-110523207-A-T c.11553+44A>T - IntronicSNV - 71/77 1
8-110525603-A-G c.11554-1796A>G - IntronicSNV - 71/77 1
8-110527400-C-T c.11555C>T p.A3852V Missense 72/78 - 3
8-110527412-G-A c.11567G>A p.G3856E Missense 72/78 - 4
8-110527414-A-C c.11569A>C p.I3857L Missense 72/78 - 1
8-110527419-C-T c.11574C>T p.F3858= Synonymous 72/78 - 1
8-110527420-T-G c.11575T>G p.F3859V Missense 72/78 - 6
8-110527423-T-C c.11578T>C p.S3860P Missense 72/78 - 3
8-110527427-C-T c.11582C>T p.T3861I Missense 72/78 - 1
8-110527429-C-T c.11584C>T p.L3862F Missense 72/78 - 5
8-110527432-C-G c.11587C>G p.Q3863E Missense 72/78 - 1
8-110527432-C-T c.11587C>T p.Q3863* Nonsense 72/78 - 1
8-110527434-A-C c.11589A>C p.Q3863H Missense 72/78 - 2
8-110527434-A-T c.11589A>T p.Q3863H Missense 72/78 - 1
8-110527435-C-T c.11590C>T p.R3864C Missense 72/78 - 7
8-110527436-G-C c.11591G>C p.R3864P Missense 72/78 - 1
8-110527439-T-C c.11594T>C p.L3865S Missense 72/78 - 2
8-110527440-G-C c.11595G>C p.L3865F Missense 72/78 - 1
8-110527440-G-T c.11595G>T p.L3865F Missense 72/78 - 1
8-110527444-G-A c.11599G>A p.V3867I Missense 72/78 - 2
8-110527446-C-T c.11601C>T p.V3867= Synonymous 72/78 - 1
8-110527447-T-C c.11602T>C p.Y3868H Missense 72/78 - 6
8-110527450-G-A c.11605G>A p.V3869M Missense 72/78 - 1
8-110527452-G-A c.11607G>A p.V3869= Synonymous 72/78 - 1
8-110527459-T-G c.11614T>G p.L3872V Missense 72/78 - 1
8-110527465-G-T c.11620G>T p.V3874F Missense 72/78 - 1
8-110527472-C-CA c.11632dup p.T3878Nfs*12 Frameshift 72/78 - 1
8-110527488-G-A c.11643G>A p.W3881* Nonsense 72/78 - 3
8-110527492-G-A c.11647G>A p.A3883T Missense 72/78 - 1
8-110527493-C-T c.11648C>T p.A3883V Missense 72/78 - 1
8-110527497-G-A c.11652G>A p.Q3884= Synonymous 72/78 - 1
8-110527506-C-T c.11661C>T p.H3887= Synonymous 72/78 - 1
8-110527508-G-A c.11663G>A p.C3888Y Missense 72/78 - 1
8-110527510-G-T c.11665G>T p.E3889* Nonsense 72/78 - 1
8-110527513-CTT-ATG c.11668_11670delinsATG p.L3890M Missense 72/78 - 1
8-110527525-C-G c.11680C>G p.L3894V Missense 72/78 - 1
8-110527528-T-C c.11683T>C p.Y3895H Missense 72/78 - 1
8-110527533-A-T c.11688A>T p.K3896N Missense 72/78 - 1
8-110527569-A-T c.11689+35A>T - IntronicSNV - 72/77 6
8-110527631-CAAT-C c.11689+97_11689+99del - IntronicDeletion - 72/77 1
8-110530397-C-A c.11691C>A p.D3897E Missense 73/78 - 1
8-110530397-C-G c.11691C>G p.D3897E Missense 73/78 - 1
8-110530399-A-T c.11693A>T p.Q3898L Missense 73/78 - 1
8-110530403-C-T c.11697C>T p.F3899= Synonymous 73/78 - 2
8-110530402-TC-T c.11698del p.L3900Ffs*38 Frameshift 73/78 - 2
8-110530413-C-A c.11707C>A p.L3903M Missense 73/78 - 1
8-110530416-G-A c.11710G>A p.D3904N Missense 73/78 - 4
8-110530417-A-G c.11711A>G p.D3904G Missense 73/78 - 1
8-110530420-C-T c.11714C>T p.S3905F Missense 73/78 - 2
8-110530421-C-A c.11715C>A p.S3905= Synonymous 73/78 - 1
8-110530421-C-G c.11715C>G p.S3905= Synonymous 73/78 - 1
8-110530421-C-T c.11715C>T p.S3905= Synonymous 73/78 - 4
8-110530423-C-A c.11717C>A p.T3906N Missense 73/78 - 2
8-110530424-T-A c.11718T>A p.T3906= Synonymous 73/78 - 1
8-110530424-T-C c.11718T>C p.T3906= Synonymous 73/78 - 1
8-110530424-T-G c.11718T>G p.T3906= Synonymous 73/78 - 1
8-110530434-G-A c.11728G>A p.E3910K Missense 73/78 - 1
8-110530434-G-T c.11728G>T p.E3910* Nonsense 73/78 - 1
8-110530449-G-A c.11743G>A p.G3915R Missense 73/78 - 2
8-110530449-G-C c.11743G>C p.G3915R Missense 73/78 - 2
8-110530449-G-T c.11743G>T p.G3915* Nonsense 73/78 - 1
8-110530455-T-C c.11749T>C p.Y3917H Missense 73/78 - 1
8-110530470-C-A c.11764C>A p.L3922I Missense 73/78 - 1
8-110530471-T-G c.11765T>G p.L3922R Missense 73/78 - 1
8-110530473-T-C c.11767T>C p.L3923= Synonymous 73/78 - 2
8-110530475-G-A c.11769G>A p.L3923= Synonymous 73/78 - 2
8-110530476-G-TTTC c.11770delinsTTTC p.V3924delinsFL MultiAAMissense 73/78 - 1
8-110530479-A-T c.11773A>T p.K3925* Nonsense 73/78 - 1
8-110530483-G-A c.11777G>A p.G3926E Missense 73/78 - 9
8-110530488-A-C c.11782A>C p.I3928L Missense 73/78 - 1
8-110530488-A-T c.11782A>T p.I3928L Missense 73/78 - 1
8-110530489-T-C c.11783T>C p.I3928T Missense 73/78 - 1
8-110530491-C-A c.11785C>A p.P3929T Missense 73/78 - 1
8-110530491-CC-AA c.11785_11786delinsAA p.P3929N Missense 73/78 - 1
8-110530496-T-A c.11790T>A p.V3930= Synonymous 73/78 - 1
8-110530496-T-C c.11790T>C p.V3930= Synonymous 73/78 - 1
8-110530496-T-G c.11790T>G p.V3930= Synonymous 73/78 - 1
8-110530500-A-G c.11794A>G p.I3932V Missense 73/78 - 1
8-110530504-A-T c.11798A>T p.H3933L Missense 73/78 - 1
8-110530508-T-A c.11802T>A p.T3934= Synonymous 73/78 - 1
8-110530508-T-C c.11802T>C p.T3934= Synonymous 73/78 - 1
8-110530509-G-T c.11803G>T p.A3935S Missense 73/78 - 1
8-110530513-C-T c.11807C>T p.T3936I Missense 73/78 - 4
8-110530519-T-A c.11813T>A p.I3938K Missense 73/78 - 1
8-110530521-T-C c.11815T>C p.F3939L Missense 73/78 - 2
8-110530523-T-A c.11817T>A p.F3939L Missense 73/78 - 1
8-110530523-T-G c.11817T>G p.F3939L Missense 73/78 - 1
8-110530532-C-T c.11826C>T p.F3942= Synonymous 73/78 - 2
8-110530533-C-T c.11827C>T p.Q3943* Nonsense 73/78 - 1
8-110530534-A-G c.11828A>G p.Q3943R Missense 73/78 - 2
8-110530539-T-C c.11833T>C p.S3945P Missense 73/78 - 2
8-110530540-C-A c.11834C>A p.S3945Y Missense 73/78 - 1
8-110530540-C-T c.11834C>T p.S3945F Missense 73/78 - 3
8-110530542-G-T c.11836G>T p.V3946F Missense 73/78 - 1
8-110530545-G-A c.11839G>A p.A3947T Missense 73/78 - 1
8-110530546-C-G c.11840C>G p.A3947G Missense 73/78 - 1
8-110530548-A-T c.11842A>T p.T3948S Missense 73/78 - 1
8-110530551-G-A c.11845G>A p.E3949K Missense 73/78 - 4
8-110530552-A-C c.11846A>C p.E3949A Missense 73/78 - 1
8-110530557-G-T c.11851G>T p.D3951Y Missense 73/78 - 1
8-110530558-A-G c.11852A>G p.D3951G Missense 73/78 - 1
8-110530559-C-A c.11853C>A p.D3951E Missense 73/78 - 1
8-110530559-C-G c.11853C>G p.D3951E Missense 73/78 - 1
8-110530564-A-T c.11858A>T p.Y3953F Missense 73/78 - 1
8-110530566-A-G c.11860A>G p.T3954A Missense 73/78 - 2
8-110530566-A-T c.11860A>T p.T3954S Missense 73/78 - 1
8-110530567-C-G c.11861C>G p.T3954S Missense 73/78 - 1
8-110530569-T-G c.11863T>G p.S3955A Missense 73/78 - 1
8-110530576-A-C c.11870A>C p.N3957T Missense 73/78 - 1
8-110530576-A-G c.11870A>G p.N3957S Missense 73/78 - 1
8-110530578-C-G c.11872C>G p.L3958V Missense 73/78 - 1
8-110530581-G-A c.11875G>A p.V3959I Missense 73/78 - 1
8-110530581-G-C c.11875G>C p.V3959L Missense 73/78 - 1
8-110530585-A-C c.11879A>C p.K3960T Missense 73/78 - 1
8-110530586-A-G c.11880A>G p.K3960= Synonymous 73/78 - 1
8-110530588-A-C c.11882A>C p.N3961T Missense 73/78 - 2
8-110530590-C-T c.11884C>T p.L3962F Missense 73/78 - 2
8-110530596-T-G c.11890T>G p.L3964V Missense 73/78 - 2
8-110530606-A-T c.11900A>T p.K3967M Missense 73/78 - 1
8-110530609-T-A c.11903T>A p.I3968K Missense 73/78 - 1
8-110530611-C-T c.11905C>T p.P3969S Missense 73/78 - 2
8-110530613-A-G c.11907A>G p.P3969= Synonymous 73/78 - 2
8-110530616-T-G c.11910T>G p.S3970R Missense 73/78 - 2
8-110530623-A-T c.11917A>T p.I3973F Missense 73/78 - 2
8-110530625-C-T c.11919C>T p.I3973= Synonymous 73/78 - 2
8-110530626-C-A c.11920C>A p.R3974S Missense 73/78 - 1
8-110530626-CGT-TGG c.11920_11922delinsTGG p.R3974W Missense 73/78 - 1
8-110530626-C-T c.11920C>T p.R3974C Missense 73/78 - 4
8-110530641-A-G c.11935A>G p.R3979G Missense 73/78 - 3
8-110530642-G-T c.11936G>T p.R3979I Missense 73/78 - 2
8-110530644-G-A c.11938G>A p.G3980R Missense 73/78 - 3
8-110530644-G-C c.11938G>C p.G3980R Missense 73/78 - 2
8-110530645-GG-AC c.11939_11940delinsAC p.G3980D Missense 73/78 - 1
8-110530645-G-T c.11939G>T p.G3980V Missense 73/78 - 1
8-110530647-AA-GC c.11941_11942delinsGC p.K3981A Missense 73/78 - 1
8-110530649-G-T c.11943G>T p.K3981N Missense 73/78 - 1
8-110530652-T-G c.11946T>G p.S3982R Missense 73/78 - 2
8-110530653-C-T c.11947C>T p.L3983= Synonymous 73/78 - 1
8-110530655-G-A c.11949G>A p.L3983= Synonymous 73/78 - 1
8-110530655-G-C c.11949G>C p.L3983= Synonymous 73/78 - 1
8-110530655-G-T c.11949G>T p.L3983= Synonymous 73/78 - 1
8-110530657-G-A c.11951G>A p.R3984K Missense 73/78 - 2
8-110530657-G-T c.11951G>T p.R3984M Missense 73/78 - 1
8-110530660-G-A c.11954G>A p.R3985K Missense 73/78 - 2
8-110530660-G-T c.11954G>T p.R3985M Missense 73/78 - 1
8-110530661-G-A c.11955G>A p.R3985= Synonymous 73/78 - 1
8-110530661-G-C c.11955G>C p.R3985S Missense 73/78 - 2
8-110530661-G-T c.11955G>T p.R3985S Missense 73/78 - 3
8-110530664-G-A c.11958G>A p.K3986= Synonymous 73/78 - 2
8-110530666-G-A c.11960G>A p.R3987K Missense 73/78 - 2
8-110530669-C-T c.11963C>T p.S3988F Missense 73/78 - 1
8-110530673-G-A c.11967G>A p.M3989I Missense 73/78 - 2
8-110530674-G-A c.11968G>A p.G3990R Missense 73/78 - 3
8-110530674-G-C c.11968G>C p.G3990R Missense 73/78 - 3
8-110530675-G-A c.11969G>A p.G3990E Missense 73/78 - 6
8-110530679-C-T c.11973C>T p.F3991= Synonymous 73/78 - 1
8-110530680-A-G c.11974A>G p.I3992V Missense 73/78 - 2
8-110530684-T-C c.11978T>C p.I3993T Missense 73/78 - 1
8-110530688-A-T c.11982A>T p.E3994D Missense 73/78 - 1
8-110530692-G-C c.11986G>C p.E3996Q Missense 73/78 - 1
8-110530694-G-A c.11988G>A p.E3996= Synonymous 73/78 - 1
8-110530696-T-C c.11990T>C p.I3997T Missense 73/78 - 4
8-110530703-C-A c.11997C>A p.D3999E Missense 73/78 - 1
8-110530708-C-T c.12002C>T p.P4001L Missense 73/78 - 1
8-110530716-T-C c.12010T>C p.F4004L Missense 73/78 - 1
8-110530718-C-A c.12012C>A p.F4004L Missense 73/78 - 1
8-110530718-C-G c.12012C>G p.F4004L Missense 73/78 - 1
8-110530723-G-A c.12017G>A p.S4006N Missense 73/78 - 1
8-110530734-A-T c.12028A>T p.T4010S Missense 73/78 - 1
8-110530735-C-T c.12029C>T p.T4010I Missense 73/78 - 1
8-110530774-T-C c.12031+37T>C - IntronicSNV - 73/77 5
8-110530774-T-G c.12031+37T>G - IntronicSNV - 73/77 3
8-110530879-T-C c.12031+142T>C - IntronicSNV - 73/77 1
8-110530966-G-A c.12031+229G>A - IntronicSNV - 73/77 1
8-110531465-TA-T c.12031+735del - IntronicDeletion - 73/77 1
8-110534430-C-G c.12047C>G p.S4016C Missense 74/78 - 1
8-110534430-C-T c.12047C>T p.S4016F Missense 74/78 - 2
8-110534432-G-A c.12049G>A p.E4017K Missense 74/78 - 1
8-110534432-G-C c.12049G>C p.E4017Q Missense 74/78 - 2
8-110534439-A-T c.12056A>T p.Q4019L Missense 74/78 - 1
8-110534441-G-A c.12058G>A p.E4020K Missense 74/78 - 5
8-110534441-G-T c.12058G>T p.E4020* Nonsense 74/78 - 2
8-110534443-A-C c.12060A>C p.E4020D Missense 74/78 - 1
8-110534443-A-T c.12060A>T p.E4020D Missense 74/78 - 1
8-110534450-G-GAA c.12067_12068insAA p.G4023Efs*8 Frameshift 74/78 - 1
8-110534454-C-T c.12071C>T p.S4024F Missense 74/78 - 1
8-110534460-G-T c.12077G>T p.G4026V Missense 74/78 - 1
8-110534465-G-A c.12082G>A p.A4028T Missense 74/78 - 1
8-110534466-C-G c.12083C>G p.A4028G Missense 74/78 - 1
8-110534466-C-T c.12083C>T p.A4028V Missense 74/78 - 3
8-110534478-G-A c.12095G>A p.G4032E Missense 74/78 - 2
8-110534482-C-T c.12099C>T p.N4033= Synonymous 74/78 - 1
8-110534487-G-A c.12104G>A p.S4035N Missense 74/78 - 1
8-110534490-G-T c.12107G>T p.S4036I Missense 74/78 - 1
8-110534498-G-A c.12115G>A p.G4039R Missense 74/78 - 1
8-110534498-G-C c.12115G>C p.G4039R Missense 74/78 - 1
8-110534499-G-A c.12116G>A p.G4039E Missense 74/78 - 1
8-110534504-A-T c.12121A>T p.N4041Y Missense 74/78 - 1
8-110534506-C-T c.12123C>T p.N4041= Synonymous 74/78 - 1
8-110534511-C-T c.12128C>T p.S4043L Missense 74/78 - 4
8-110534512-G-A c.12129G>A p.S4043= Synonymous 74/78 - 11
8-110534512-G-C c.12129G>C p.S4043= Synonymous 74/78 - 10
8-110534512-G-T c.12129G>T p.S4043= Synonymous 74/78 - 2
8-110534514-C-T c.12131C>T p.S4044F Missense 74/78 - 4
8-110534515-C-A c.12132C>A p.S4044= Synonymous 74/78 - 1
8-110534515-C-G c.12132C>G p.S4044= Synonymous 74/78 - 1
8-110534515-C-T c.12132C>T p.S4044= Synonymous 74/78 - 1
8-110534516-A-C c.12133A>C p.M4045L Missense 74/78 - 1
8-110534516-A-T c.12133A>T p.M4045L Missense 74/78 - 1
8-110534517-T-A c.12134T>A p.M4045K Missense 74/78 - 1
8-110534533-C-A c.12150C>A p.P4050= Synonymous 74/78 - 1
8-110534533-C-G c.12150C>G p.P4050= Synonymous 74/78 - 1
8-110534533-C-T c.12150C>T p.P4050= Synonymous 74/78 - 1
8-110534539-C-CT c.12156_12157insT p.S4053* Nonsense 74/78 - 2
8-110534550-A-G c.12167A>G p.D4056G Missense 74/78 - 2
8-110534553-C-G c.12170C>G p.S4057C Missense 74/78 - 1
8-110534553-C-T c.12170C>T p.S4057F Missense 74/78 - 2
8-110534559-G-T c.12176G>T p.W4059L Missense 74/78 - 2
8-110534565-A-G c.12182A>G p.K4061R Missense 74/78 - 3
8-110534566-G-C c.12183G>C p.K4061N Missense 74/78 - 1
8-110534566-G-T c.12183G>T p.K4061N Missense 74/78 - 1
8-110534775-T-A c.12184-198T>A - IntronicSNV - 74/77 1
8-110534775-T-C c.12184-198T>C - IntronicSNV - 74/77 1
8-110534922-C-T c.12184-51C>T - IntronicSNV - 74/77 1
8-110534982-C-A c.12193C>A p.Q4065K Missense 75/78 - 1
8-110534984-G-C c.12195G>C p.Q4065H Missense 75/78 - 4
8-110534984-G-T c.12195G>T p.Q4065H Missense 75/78 - 7
8-110534985-C-T c.12196C>T p.P4066S Missense 75/78 - 1
8-110534988-GTT-ATG c.12199_12201delinsATG p.V4067M Missense 75/78 - 1
8-110534994-A-G c.12205A>G p.R4069G Missense 75/78 - 1
8-110534995-G-C c.12206G>C p.R4069T Missense 75/78 - 4
8-110534995-G-T c.12206G>T p.R4069M Missense 75/78 - 3
8-110534997-T-C c.12208T>C p.S4070P Missense 75/78 - 1
8-110534997-TC-CA c.12208_12209delinsCA p.S4070H Missense 75/78 - 1
8-110534998-C-A c.12209C>A p.S4070Y Missense 75/78 - 2
8-110535006-C-T c.12217C>T p.P4073S Missense 75/78 - 4
8-110535007-CTGT-C c.12220_12222del p.V4074del InFrameDeletion 75/78 - 1
8-110535009-G-C c.12220G>C p.V4074L Missense 75/78 - 1
8-110535015-C-T c.12226C>T p.H4076Y Missense 75/78 - 5
8-110535016-A-T c.12227A>T p.H4076L Missense 75/78 - 1
8-110535017-C-T c.12228C>T p.H4076= Synonymous 75/78 - 1
8-110535018-G-A c.12229G>A p.V4077M Missense 75/78 - 1
8-110535018-G-T c.12229G>T p.V4077L Missense 75/78 - 1
8-110535021-G-A c.12232G>A p.A4078T Missense 75/78 - 1
8-110535024-T-C c.12235T>C p.F4079L Missense 75/78 - 1
8-110535026-C-A c.12237C>A p.F4079L Missense 75/78 - 1
8-110535026-C-G c.12237C>G p.F4079L Missense 75/78 - 1
8-110535026-C-T c.12237C>T p.F4079= Synonymous 75/78 - 2
8-110535028-T-A c.12239T>A p.V4080E Missense 75/78 - 1
8-110535051-C-G c.12262C>G p.Q4088E Missense 75/78 - 1
8-110535053-G-A c.12264G>A p.Q4088= Synonymous 75/78 - 2
8-110535055-C-A c.12266C>A p.P4089Q Missense 75/78 - 1
8-110535055-C-T c.12266C>T p.P4089L Missense 75/78 - 1
8-110535057-G-A c.12268G>A p.V4090M Missense 75/78 - 1
8-110535061-C-A c.12272C>A p.A4091E Missense 75/78 - 4
8-110535065-A-G c.12276A>G p.A4092= Synonymous 75/78 - 1
8-110535076-A-C c.12287A>C p.Q4096P Missense 75/78 - 1
8-110535077-G-A c.12288G>A p.Q4096= Synonymous 75/78 - 2
8-110535084-C-T c.12295C>T p.P4099S Missense 75/78 - 2
8-110535087-C-T c.12298C>T p.Q4100* Nonsense 75/78 - 5
8-110535089-G-A c.12300G>A p.Q4100= Synonymous 75/78 - 3
8-110535093-C-T c.12304C>T p.P4102S Missense 75/78 - 2
8-110535097-C-T c.12308C>T p.S4103L Missense 75/78 - 2
8-110535098-G-A c.12309G>A p.S4103= Synonymous 75/78 - 1
8-110535098-G-C c.12309G>C p.S4103= Synonymous 75/78 - 1
8-110535098-G-T c.12309G>T p.S4103= Synonymous 75/78 - 1
8-110535099-G-A c.12310G>A p.V4104I Missense 75/78 - 1
8-110535111-G-A c.12322G>A p.D4108N Missense 75/78 - 5
8-110535117-G-A c.12328G>A p.D4110N Missense 75/78 - 4
8-110535119-C-A c.12330C>A p.D4110E Missense 75/78 - 1
8-110535119-C-G c.12330C>G p.D4110E Missense 75/78 - 1
8-110535119-C-T c.12330C>T p.D4110= Synonymous 75/78 - 2
8-110535121-T-A c.12330+2T>A - IntronicSNV - 75/77 1
8-110535464-T-A c.12333T>A p.G4111= Synonymous 76/78 - 1
8-110535464-T-C c.12333T>C p.G4111= Synonymous 76/78 - 1
8-110535464-T-G c.12333T>G p.G4111= Synonymous 76/78 - 1
8-110535467-C-A c.12336C>A p.N4112K Missense 76/78 - 1
8-110535467-C-G c.12336C>G p.N4112K Missense 76/78 - 1
8-110535469-G-A c.12338G>A p.C4113Y Missense 76/78 - 1
8-110535472-T-C c.12341T>C p.V4114A Missense 76/78 - 1
8-110535475-C-T c.12344C>T p.S4115L Missense 76/78 - 2
8-110535481-G-A c.12350G>A p.G4117E Missense 76/78 - 1
8-110535486-A-T c.12355A>T p.T4119S Missense 76/78 - 1
8-110535487-C-G c.12356C>G p.T4119S Missense 76/78 - 1
8-110535491-A-G c.12360A>G p.A4120= Synonymous 76/78 - 1
8-110535503-G-A c.12372G>A p.R4124= Synonymous 76/78 - 2
8-110535504-G-T c.12373G>T p.A4125S Missense 76/78 - 1
8-110535505-C-T c.12374C>T p.A4125V Missense 76/78 - 1
8-110535510-C-T c.12379C>T p.L4127F Missense 76/78 - 5
8-110535516-G-A c.12385G>A p.D4129N Missense 76/78 - 2
8-110535522-A-G c.12391A>G p.N4131D Missense 76/78 - 1
8-110535536-C-A c.12405C>A p.V4135= Synonymous 76/78 - 1
8-110535536-C-G c.12405C>G p.V4135= Synonymous 76/78 - 1
8-110535536-C-T c.12405C>T p.V4135= Synonymous 76/78 - 1
8-110535547-G-A c.12416G>A p.S4139N Missense 76/78 - 1
8-110535548-T-C c.12417T>C p.S4139= Synonymous 76/78 - 2
8-110535550-G-A c.12419G>A p.G4140E Missense 76/78 - 1
8-110535564-C-A c.12433C>A p.P4145T Missense 76/78 - 4
8-110535565-C-T c.12434C>T p.P4145L Missense 76/78 - 1
8-110535566-G-A c.12435G>A p.P4145= Synonymous 76/78 - 1
8-110535566-G-C c.12435G>C p.P4145= Synonymous 76/78 - 1
8-110535566-G-T c.12435G>T p.P4145= Synonymous 76/78 - 1
8-110535569-T-G c.12438T>G p.F4146L Missense 76/78 - 3
8-110535580-G-A c.12449G>A p.W4150* Nonsense 76/78 - 1
8-110535580-G-T c.12449G>T p.W4150L Missense 76/78 - 1
8-110535586-A-G c.12455A>G p.N4152S Missense 76/78 - 1
8-110535590-C-T c.12459C>T p.Y4153= Synonymous 76/78 - 1
8-110535595-A-G c.12464A>G p.D4155G Missense 76/78 - 1
8-110535603-C-T c.12472C>T p.P4158S Missense 76/78 - 1
8-110535604-C-T c.12473C>T p.P4158L Missense 76/78 - 5
8-110535606-C-A c.12475C>A p.L4159I Missense 76/78 - 1
8-110535606-C-T c.12475C>T p.L4159F Missense 76/78 - 2
8-110535610-G-A c.12479G>A p.R4160K Missense 76/78 - 1
8-110535613-C-T c.12482C>T p.T4161I Missense 76/78 - 1
8-110538887-C-A c.12485-126C>A - IntronicSNV - 76/77 2
8-110538887-C-G c.12485-126C>G - IntronicSNV - 76/77 2
8-110538954-G-A c.12485-59G>A - IntronicSNV - 76/77 2
8-110538954-G-T c.12485-59G>T - IntronicSNV - 76/77 2
8-110539013-G-A c.12485G>A p.G4162E Missense 77/78 - 2
8-110539017-A-C c.12489A>C p.K4163N Missense 77/78 - 1
8-110539017-A-T c.12489A>T p.K4163N Missense 77/78 - 1
8-110539013-G-GA c.12491dup p.N4164Kfs*3 Frameshift 77/78 - 1
8-110539029-T-C c.12501T>C p.I4167= Synonymous 77/78 - 1
8-110539060-G-A c.12532G>A p.E4178K Missense 77/78 - 1
8-110539060-G-C c.12532G>C p.E4178Q Missense 77/78 - 1
8-110539060-G-T c.12532G>T p.E4178* Nonsense 77/78 - 1
8-110539062-A-C c.12534A>C p.E4178D Missense 77/78 - 1
8-110539062-A-T c.12534A>T p.E4178D Missense 77/78 - 1
8-110539071-T-A c.12543T>A p.T4181= Synonymous 77/78 - 2
8-110539071-T-C c.12543T>C p.T4181= Synonymous 77/78 - 2
8-110539071-T-G c.12543T>G p.T4181= Synonymous 77/78 - 2
8-110539082-T-C c.12554T>C p.L4185P Missense 77/78 - 3
8-110539084-G-A c.12556G>A p.A4186T Missense 77/78 - 1
8-110539088-A-G c.12560A>G p.E4187G Missense 77/78 - 1
8-110539091-C-T c.12563C>T p.S4188F Missense 77/78 - 1
8-110539098-T-C c.12570T>C p.S4190= Synonymous 77/78 - 2
8-110539099-A-G c.12571A>G p.S4191G Missense 77/78 - 1
8-110539104-T-C c.12576T>C p.S4192= Synonymous 77/78 - 1
8-110539105-G-A c.12577G>A p.G4193S Missense 77/78 - 1
8-110539109-G-A c.12581G>A p.S4194N Missense 77/78 - 2
8-110539108-A-C c.12580A>C p.S4194R Missense 77/78 - 1
8-110539110-C-A c.12582C>A p.S4194R Missense 77/78 - 1
8-110539110-C-G c.12582C>G p.S4194R Missense 77/78 - 2
8-110539110-C-T c.12582C>T p.S4194= Synonymous 77/78 - 1
8-110539115-G-A c.12587G>A p.S4196N Missense 77/78 - 1
8-110539114-A-C c.12586A>C p.S4196R Missense 77/78 - 1
8-110539116-C-A c.12588C>A p.S4196R Missense 77/78 - 1
8-110539116-C-G c.12588C>G p.S4196R Missense 77/78 - 1
8-110539105-GGCAGCA-G c.12590_12595del p.S4197_S4198del InFrameDeletion 77/78 - 3
8-110539118-G-A c.12590G>A p.S4197N Missense 77/78 - 1
8-110539105-GGCA-G c.12593_12595del p.S4198del InFrameDeletion 77/78 - 6
8-110539121-G-A c.12593G>A p.S4198N Missense 77/78 - 1
8-110539122-C-T c.12594C>T p.S4198= Synonymous 77/78 - 1
8-110539124-A-G c.12596A>G p.N4199S Missense 77/78 - 1
8-110539127-G-A c.12599G>A p.S4200N Missense 77/78 - 1
8-110539132-G-A c.12604G>A p.A4202T Missense 77/78 - 1
8-110539136-C-A c.12608C>A p.S4203* Nonsense 77/78 - 1
8-110539136-C-G c.12608C>G p.S4203* Nonsense 77/78 - 1
8-110539138-A-G c.12610A>G p.T4204A Missense 77/78 - 1
8-110539143-G-T c.12615G>T p.V4205= Synonymous 77/78 - 1
8-110539145-G-A c.12617G>A p.G4206D Missense 77/78 - 1
8-110539153-G-A c.12625G>A p.A4209T Missense 77/78 - 1
8-110539153-G-C c.12625G>C p.A4209P Missense 77/78 - 1
8-110539156-C-T c.12628C>T p.Q4210* Nonsense 77/78 - 2
8-110539162-A-G c.12634A>G p.M4212V Missense 77/78 - 2
8-110539165-A-T c.12637A>T p.T4213S Missense 77/78 - 1
8-110539166-CT-AG c.12638_12639inv p.T4213K Missense 77/78 - 1
8-110539169-T-C c.12641T>C p.V4214A Missense 77/78 - 1
8-110539175-T-A c.12647T>A p.I4216N Missense 77/78 - 2
8-110539179-C-A c.12651C>A p.S4217R Missense 77/78 - 1
8-110539179-C-T c.12651C>T p.S4217= Synonymous 77/78 - 1
8-110539181-G-A c.12653G>A p.C4218Y Missense 77/78 - 1
8-110539186-G-A c.12658G>A p.V4220I Missense 77/78 - 22
8-110539188-T-A c.12660T>A p.V4220= Synonymous 77/78 - 2
8-110539188-T-C c.12660T>C p.V4220= Synonymous 77/78 - 2
8-110539188-T-G c.12660T>G p.V4220= Synonymous 77/78 - 2
8-110539189-G-A c.12661G>A p.G4221R Missense 77/78 - 1
8-110539189-G-T c.12661G>T p.G4221* Nonsense 77/78 - 2
8-110539190-G-A c.12662G>A p.G4221E Missense 77/78 - 1
8-110539193-G-C c.12665G>C p.R4222T Missense 77/78 - 1
8-110539193-G-T c.12665G>T p.R4222I Missense 77/78 - 3
8-110539199-G-T c.12671G>T p.W4224L Missense 77/78 - 1
8-110539201-C-G c.12673C>G p.L4225V Missense 77/78 - 4
8-110539203-C-A c.12675C>A p.L4225= Synonymous 77/78 - 1
8-110539204-T-A c.12676T>A p.L4226M Missense 77/78 - 1
8-110539207-G-A c.12679G>A p.E4227K Missense 77/78 - 3
8-110539220-C-A c.12692C>A p.A4231D Missense 77/78 - 1
8-110539242-A-G c.12714A>G p.I4238M Missense 77/78 - 1
8-110539243-A-G c.12715A>G p.T4239A Missense 77/78 - 1
8-110539603-G-T c.12721+354G>T - IntronicSNV - 77/77 1
8-110542298-C-T c.12722-11C>T - IntronicSNV - 77/77 5
8-110542309-G-A c.12722G>A p.R4241K Missense 78/78 - 1
8-110542331-G-A c.*12G>A - 3-UTRSNV 78/78 - 1
8-110542337-T-C c.*18T>C - 3-UTRSNV 78/78 - 6
8-110542343-G-GA c.*27dup - 3-UTRInsertion 78/78 - 4
8-110545900-A-T c.*3581A>T - IntergenicSNV 78/78 - 1
8-110546473-C-T c.*4154C>T - IntergenicSNV 78/78 - 1