TNN

TNN tenascin N

Annotation transcript: NM_022093.2

2331 unique variant annotations were identified in 681 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
1-175039603-T-C c.-36+2532T>C - intron_variant - 1/18 1
1-175042156-C-G c.-35-4364C>G - IntronicSNV - 1/18 1
1-175042156-C-T c.-35-4364C>T - IntronicSNV - 1/18 1
1-175043967-C-T c.-35-2553C>T - IntronicSNV - 1/18 1
1-175046454-T-TAAA c.-35-59_-35-57dup - IntronicInsertion - 1/18 1
1-175046454-T-TAA c.-35-58_-35-57dup - IntronicInsertion - 1/18 1
1-175046454-T-TA c.-35-57dup - IntronicInsertion - 1/18 1
1-175046487-C-T c.-68C>T - IntronicSNV 1/19 - 3
1-175046488-G-A c.-35-32G>A - IntronicSNV - 1/18 6
1-175046488-G-C c.-35-32G>C - IntronicSNV - 1/18 6
1-175046557-G-A c.3G>A p.M1? Missense 2/19 - 1
1-175046557-G-T c.3G>T p.M1? Missense 2/19 - 1
1-175046559-G-A c.5G>A p.S2N Missense 2/19 - 2
1-175046562-T-A c.8T>A p.L3H Missense 2/19 - 1
1-175046563-C-A c.9C>A p.L3= Synonymous 2/19 - 2
1-175046563-C-G c.9C>G p.L3= Synonymous 2/19 - 3
1-175046563-C-T c.9C>T p.L3= Synonymous 2/19 - 3
1-175046567-G-A c.13G>A p.E5K Missense 2/19 - 3
1-175046567-G-C c.13G>C p.E5Q Missense 2/19 - 1
1-175046575-C-A c.21C>A p.F7L Missense 2/19 - 1
1-175046575-C-T c.21C>T p.F7= Synonymous 2/19 - 1
1-175046576-C-A c.22C>A p.R8S Missense 2/19 - 1
1-175046577-G-A c.23G>A p.R8H Missense 2/19 - 4
1-175046581-C-T c.27C>T p.F9= Synonymous 2/19 - 4
1-175046582-C-T c.28C>T p.P10S Missense 2/19 - 4
1-175046583-C-T c.29C>T p.P10L Missense 2/19 - 1
1-175046586-T-C c.32T>C p.M11T Missense 2/19 - 1
1-175046588-G-A c.34G>A p.G12R Missense 2/19 - 2
1-175046588-G-C c.34G>C p.G12R Missense 2/19 - 1
1-175046588-GG-CT c.34_35delinsCT p.G12L Missense 2/19 - 1
1-175046588-GGG-AAC c.34_36delinsAAC p.G12N Missense 2/19 - 1
1-175046588-GGG-ATC c.34_36delinsATC p.G12I Missense 2/19 - 1
1-175046588-GGG-TAT c.34_36delinsTAT p.G12Y Missense 2/19 - 1
1-175046588-GGG-TGT c.34_36delinsTGT p.G12C Missense 2/19 - 2
1-175046588-GGG-TTT c.34_36delinsTTT p.G12F Missense 2/19 - 1
1-175046588-GG-TA c.34_35delinsTA p.G12* Nonsense 2/19 - 1
1-175046588-G-T c.34G>T p.G12W Missense 2/19 - 2
1-175046589-G-A c.35G>A p.G12E Missense 2/19 - 1
1-175046589-G-C c.35G>C p.G12A Missense 2/19 - 2
1-175046589-GG-AC c.35_36delinsAC p.G12D Missense 2/19 - 2
1-175046589-G-T c.35G>T p.G12V Missense 2/19 - 3
1-175046591-C-A c.37C>A p.L13I Missense 2/19 - 1
1-175046591-CT-GC c.37_38delinsGC p.L13A Missense 2/19 - 1
1-175046593-C-T c.39C>T p.L13= Synonymous 2/19 - 3
1-175046594-C-T c.40C>T p.L14= Synonymous 2/19 - 2
1-175046598-T-G c.44T>G p.L15R Missense 2/19 - 1
1-175046600-GGC-TGA c.46_48delinsTGA p.G16* Nonsense 2/19 - 1
1-175046601-G-C c.47G>C p.G16A Missense 2/19 - 1
1-175046602-C-A c.48C>A p.G16= Synonymous 2/19 - 1
1-175046602-C-G c.48C>G p.G16= Synonymous 2/19 - 1
1-175046602-C-T c.48C>T p.G16= Synonymous 2/19 - 3
1-175046604-C-T c.50C>T p.S17F Missense 2/19 - 1
1-175046606-G-GA c.52_53insA p.V18Dfs*42 Frameshift 2/19 - 1
1-175046608-G-A c.54G>A p.V18= Synonymous 2/19 - 1
1-175046609-C-T c.55C>T p.L19F Missense 2/19 - 1
1-175046615-G-A c.61G>A p.V21M Missense 2/19 - 1
1-175046618-G-A c.64G>A p.A22T Missense 2/19 - 2
1-175046618-G-T c.64G>T p.A22S Missense 2/19 - 2
1-175046620-T-A c.66T>A p.A22= Synonymous 2/19 - 1
1-175046620-T-C c.66T>C p.A22= Synonymous 2/19 - 1
1-175046620-T-G c.66T>G p.A22= Synonymous 2/19 - 1
1-175046621-T-C c.67T>C p.S23P Missense 2/19 - 1
1-175046622-C-A c.68C>A p.S23* Nonsense 2/19 - 1
1-175046622-C-T c.68C>T p.S23L Missense 2/19 - 12
1-175046624-G-C c.70G>C p.A24P Missense 2/19 - 1
1-175046624-GCC-ATG c.70_72delinsATG p.A24M Missense 2/19 - 1
1-175046624-GCC-CAA c.70_72delinsCAA p.A24Q Missense 2/19 - 1
1-175046624-GC-CG c.70_71delinsCG p.A24R Missense 2/19 - 1
1-175046624-GC-CT c.70_71delinsCT p.A24L Missense 2/19 - 1
1-175046624-GCC-TAA c.70_72delinsTAA p.A24* Nonsense 2/19 - 1
1-175046624-GCC-TGG c.70_72delinsTGG p.A24W Missense 2/19 - 1
1-175046625-C-A c.71C>A p.A24D Missense 2/19 - 2
1-175046625-C-T c.71C>T p.A24V Missense 2/19 - 1
1-175046626-C-A c.72C>A p.A24= Synonymous 2/19 - 3
1-175046626-C-G c.72C>G p.A24= Synonymous 2/19 - 3
1-175046626-C-T c.72C>T p.A24= Synonymous 2/19 - 4
1-175046627-C-A c.73C>A p.P25T Missense 2/19 - 1
1-175046627-CC-AA c.73_74delinsAA p.P25K Missense 2/19 - 1
1-175046627-CCA-GAC c.73_75delinsGAC p.P25D Missense 2/19 - 1
1-175046627-C-G c.73C>G p.P25A Missense 2/19 - 1
1-175046628-C-T c.74C>T p.P25L Missense 2/19 - 1
1-175046629-A-C c.75A>C p.P25= Synonymous 2/19 - 1
1-175046629-A-G c.75A>G p.P25= Synonymous 2/19 - 2
1-175046629-A-T c.75A>T p.P25= Synonymous 2/19 - 1
1-175046630-GC-AT c.76_77delinsAT p.A26I Missense 2/19 - 1
1-175046630-GC-CA c.76_77delinsCA p.A26H Missense 2/19 - 1
1-175046630-GCC-TAA c.76_78delinsTAA p.A26* Nonsense 2/19 - 1
1-175046630-GCC-TGG c.76_78delinsTGG p.A26W Missense 2/19 - 1
1-175046630-GC-TA c.76_77delinsTA p.A26Y Missense 2/19 - 1
1-175046630-GC-TG c.76_77delinsTG p.A26C Missense 2/19 - 3
1-175046630-GC-TT c.76_77delinsTT p.A26F Missense 2/19 - 2
1-175046630-G-T c.76G>T p.A26S Missense 2/19 - 1
1-175046631-C-A c.77C>A p.A26D Missense 2/19 - 1
1-175046631-CC-AG c.77_78delinsAG p.A26E Missense 2/19 - 1
1-175046631-C-T c.77C>T p.A26V Missense 2/19 - 2
1-175046633-A-T c.79A>T p.T27S Missense 2/19 - 1
1-175046634-C-T c.80C>T p.T27I Missense 2/19 - 3
1-175046634-CT-TG c.80_81delinsTG p.T27M Missense 2/19 - 1
1-175046636-C-G c.82C>G p.L28V Missense 2/19 - 1
1-175046637-TG-CA c.83_84inv p.L28P Missense 2/19 - 1
1-175046639-G-T c.85G>T p.E29* Nonsense 2/19 - 2
1-175046642-C-T c.88C>T p.P30S Missense 2/19 - 3
1-175046645-C-T c.91C>T p.P31S Missense 2/19 - 1
1-175046646-C-A c.92C>A p.P31H Missense 2/19 - 1
1-175046646-C-T c.92C>T p.P31L Missense 2/19 - 2
1-175046647-C-A c.93C>A p.P31= Synonymous 2/19 - 1
1-175046648-G-C c.94G>C p.G32R Missense 2/19 - 1
1-175046648-GGC-TGA c.94_96delinsTGA p.G32* Nonsense 2/19 - 1
1-175046651-TG-GC c.97_98delinsGC p.C33A Missense 2/19 - 6
1-175046652-G-A c.98G>A p.C33Y Missense 2/19 - 3
1-175046652-G-T c.98G>T p.C33F Missense 2/19 - 1
1-175046655-G-A c.101G>A p.S34N Missense 2/19 - 1
1-175046655-G-C c.101G>C p.S34T Missense 2/19 - 1
1-175046655-G-T c.101G>T p.S34I Missense 2/19 - 1
1-175046656-C-T c.102C>T p.S34= Synonymous 2/19 - 1
1-175046659-C-T c.105C>T p.N35= Synonymous 2/19 - 1
1-175046661-A-C c.107A>C p.K36T Missense 2/19 - 1
1-175046663-G-A c.109G>A p.E37K Missense 2/19 - 5
1-175046665-G-A c.111G>A p.E37= Synonymous 2/19 - 1
1-175046666-C-A c.112C>A p.Q38K Missense 2/19 - 1
1-175046666-C-CA c.114dup p.Q39Tfs*21 Frameshift 2/19 - 1
1-175046671-G-T c.117G>T p.Q39H Missense 2/19 - 1
1-175046673-T-A c.119T>A p.V40D Missense 2/19 - 1
1-175046675-A-G c.121A>G p.T41A Missense 2/19 - 2
1-175046676-C-A c.122C>A p.T41N Missense 2/19 - 1
1-175046676-C-T c.122C>T p.T41I Missense 2/19 - 3
1-175046681-A-G c.127A>G p.S43G Missense 2/19 - 1
1-175046682-G-A c.128G>A p.S43N Missense 2/19 - 2
1-175046683-C-T c.129C>T p.S43= Synonymous 2/19 - 3
1-175046688-C-A c.134C>A p.T45N Missense 2/19 - 1
1-175046688-C-T c.134C>T p.T45I Missense 2/19 - 4
1-175046692-C-A c.138C>A p.Y46* Nonsense 2/19 - 2
1-175046692-C-G c.138C>G p.Y46* Nonsense 2/19 - 1
1-175046693-A-G c.139A>G p.K47E Missense 2/19 - 4
1-175046695-G-A c.141G>A p.K47= Synonymous 2/19 - 2
1-175046695-G-C c.141G>C p.K47N Missense 2/19 - 1
1-175046695-G-T c.141G>T p.K47N Missense 2/19 - 2
1-175046698-C-T c.144C>T p.I48= Synonymous 2/19 - 1
1-175046699-G-A c.145G>A p.D49N Missense 2/19 - 2
1-175046699-G-T c.145G>T p.D49Y Missense 2/19 - 1
1-175046702-G-A c.148G>A p.V50M Missense 2/19 - 1
1-175046703-TG-AC c.149_150delinsAC p.V50D Missense 2/19 - 1
1-175046704-G-A c.150G>A p.V50= Synonymous 2/19 - 1
1-175046704-G-C c.150G>C p.V50= Synonymous 2/19 - 1
1-175046704-G-T c.150G>T p.V50= Synonymous 2/19 - 2
1-175046707-C-A c.153C>A p.P51= Synonymous 2/19 - 1
1-175046709-A-G c.155A>G p.K52R Missense 2/19 - 1
1-175046710-G-C c.156G>C p.K52N Missense 2/19 - 1
1-175046710-G-T c.156G>T p.K52N Missense 2/19 - 2
1-175046711-TC-CG c.157_158delinsCG p.S53R Missense 2/19 - 1
1-175046712-C-G c.158C>G p.S53C Missense 2/19 - 1
1-175046714-GC-AA c.160_161delinsAA p.A54N Missense 2/19 - 1
1-175046714-G-T c.160G>T p.A54S Missense 2/19 - 1
1-175046715-C-A c.161C>A p.A54D Missense 2/19 - 1
1-175046717-TT-CC c.163_164delinsCC p.L55P Missense 2/19 - 1
1-175046719-G-C c.165G>C p.L55F Missense 2/19 - 1
1-175046719-G-T c.165G>T p.L55F Missense 2/19 - 1
1-175046720-G-A c.166G>A p.V56I Missense 2/19 - 1
1-175046720-G-C c.166G>C p.V56L Missense 2/19 - 1
1-175046721-T-C c.167T>C p.V56A Missense 2/19 - 4
1-175046723-C-T c.169C>T p.Q57* Nonsense 2/19 - 2
1-175046724-A-G c.170A>G p.Q57R Missense 2/19 - 1
1-175046725-G-A c.171G>A p.Q57= Synonymous 2/19 - 1
1-175046725-G-C c.171G>C p.Q57H Missense 2/19 - 1
1-175046725-G-T c.171G>T p.Q57H Missense 2/19 - 1
1-175046726-G-A c.172G>A p.V58I Missense 2/19 - 4
1-175046726-G-C c.172G>C p.V58L Missense 2/19 - 1
1-175046731-C-A c.177C>A p.D59E Missense 2/19 - 1
1-175046731-C-CAGCTGCCTGTAGG c.177_178insAGCTGCCTGTAGG p.A60Sfs*4 Frameshift 2/19 - 1
1-175046731-CG-GA c.177_178delinsGA p.D59_A60delinsET MultiAAMissense 2/19 - 1
1-175046731-C-T c.177C>T p.D59= Synonymous 2/19 - 1
1-175046732-G-A c.178G>A p.A60T Missense 2/19 - 5
1-175046731-CGCT-C c.179_181del p.A60del InFrameDeletion 2/19 - 1
1-175046733-C-G c.179C>G p.A60G Missense 2/19 - 1
1-175046735-G-A c.181G>A p.D61N Missense 2/19 - 1
1-175046735-G-T c.181G>T p.D61Y Missense 2/19 - 2
1-175046736-A-G c.182A>G p.D61G Missense 2/19 - 1
1-175046738-C-A c.184C>A p.P62T Missense 2/19 - 1
1-175046738-C-T c.184C>T p.P62S Missense 2/19 - 1
1-175046739-C-T c.185C>T p.P62L Missense 2/19 - 2
1-175046741-C-A c.187C>A p.Q63K Missense 2/19 - 1
1-175046741-C-G c.187C>G p.Q63E Missense 2/19 - 8
1-175046743-G-A c.189G>A p.Q63= Synonymous 2/19 - 1
1-175046747-C-T c.193C>T p.L65F Missense 2/19 - 1
1-175046749-C-A c.195C>A p.L65= Synonymous 2/19 - 1
1-175046749-C-T c.195C>T p.L65= Synonymous 2/19 - 2
1-175046750-A-AG c.197dup p.S66Rfs*2 Frameshift 2/19 - 1
1-175046751-G-T c.197G>T p.S66I Missense 2/19 - 1
1-175046750-A-C c.196A>C p.S66R Missense 2/19 - 1
1-175046752-T-A c.198T>A p.S66R Missense 2/19 - 1
1-175046752-T-G c.198T>G p.S66R Missense 2/19 - 1
1-175046753-G-T c.199G>T p.D67Y Missense 2/19 - 1
1-175046755-C-T c.201C>T p.D67= Synonymous 2/19 - 1
1-175046756-G-A c.202G>A p.D68N Missense 2/19 - 4
1-175046756-G-T c.202G>T p.D68Y Missense 2/19 - 1
1-175046759-GG-TA c.205_206delinsTA p.G69* Nonsense 2/19 - 1
1-175046760-G-T c.206G>T p.G69V Missense 2/19 - 1
1-175046761-G-A c.207G>A p.G69= Synonymous 2/19 - 3
1-175046762-G-A c.208G>A p.A70T Missense 2/19 - 7
1-175046763-C-T c.209C>T p.A70V Missense 2/19 - 2
1-175046765-T-A c.211T>A p.S71T Missense 2/19 - 1
1-175046766-C-G c.212C>G p.S71W Missense 2/19 - 1
1-175046766-C-T c.212C>T p.S71L Missense 2/19 - 11
1-175046767-G-A c.213G>A p.S71= Synonymous 2/19 - 5
1-175046767-G-C c.213G>C p.S71= Synonymous 2/19 - 1
1-175046767-G-T c.213G>T p.S71= Synonymous 2/19 - 1
1-175046768-C-CT c.215dup p.A74Gfs*54 Frameshift 2/19 - 1
1-175046771-T-C c.217T>C p.L73= Synonymous 2/19 - 1
1-175046771-T-G c.217T>G p.L73V Missense 2/19 - 1
1-175046773-G-C c.219G>C p.L73F Missense 2/19 - 1
1-175046774-G-A c.220G>A p.A74T Missense 2/19 - 1
1-175046775-C-T c.221C>T p.A74V Missense 2/19 - 2
1-175046776-C-T c.222C>T p.A74= Synonymous 2/19 - 3
1-175046777-CT-TA c.223_224delinsTA p.L75* Nonsense 2/19 - 1
1-175046780-G-A c.226G>A p.G76R Missense 2/19 - 1
1-175046781-G-C c.227G>C p.G76A Missense 2/19 - 1
1-175046783-G-A c.229G>A p.E77K Missense 2/19 - 5
1-175046784-A-T c.230A>T p.E77V Missense 2/19 - 1
1-175046786-G-C c.232G>C p.A78P Missense 2/19 - 1
1-175046787-CCA-ATG c.233_235delinsATG p.A78_R79delinsDG MultiAAMissense 2/19 - 1
1-175046788-C-T c.234C>T p.A78= Synonymous 2/19 - 2
1-175046789-A-G c.235A>G p.R79G Missense 2/19 - 34
1-175046790-G-A c.236G>A p.R79K Missense 2/19 - 2
1-175046792-G-A c.238G>A p.E80K Missense 2/19 - 4
1-175046792-G-T c.238G>T p.E80* Nonsense 2/19 - 1
1-175046793-A-G c.239A>G p.E80G Missense 2/19 - 1
1-175046794-G-A c.240G>A p.E80= Synonymous 2/19 - 3
1-175046795-G-A c.241G>A p.E81K Missense 2/19 - 2
1-175046800-G-A c.246G>A p.Q82= Synonymous 2/19 - 2
1-175046800-G-T c.246G>T p.Q82H Missense 2/19 - 1
1-175046801-AAC-CAA c.247_249delinsCAA p.N83Q Missense 2/19 - 1
1-175046802-A-C c.248A>C p.N83T Missense 2/19 - 1
1-175046803-C-T c.249C>T p.N83= Synonymous 2/19 - 1
1-175046804-A-G c.250A>G p.I84V Missense 2/19 - 1
1-175046806-C-T c.252C>T p.I84= Synonymous 2/19 - 3
1-175046809-C-A c.255C>A p.I85= Synonymous 2/19 - 3
1-175046809-C-T c.255C>T p.I85= Synonymous 2/19 - 2
1-175046810-T-C c.256T>C p.F86L Missense 2/19 - 1
1-175046812-C-A c.258C>A p.F86L Missense 2/19 - 1
1-175046812-C-G c.258C>G p.F86L Missense 2/19 - 1
1-175046812-C-T c.258C>T p.F86= Synonymous 2/19 - 2
1-175046813-A-G c.259A>G p.R87G Missense 2/19 - 1
1-175046813-AGG-CAT c.259_261delinsCAT p.R87H Missense 2/19 - 1
1-175046813-AG-TA c.259_260delinsTA p.R87* Nonsense 2/19 - 1
1-175046816-C-T c.262C>T p.H88Y Missense 2/19 - 1
1-175046821-C-A c.267C>A p.N89K Missense 2/19 - 1
1-175046821-C-G c.267C>G p.N89K Missense 2/19 - 1
1-175046821-C-T c.267C>T p.N89= Synonymous 2/19 - 1
1-175046823-T-C c.269T>C p.I90T Missense 2/19 - 2
1-175046824-C-A c.270C>A p.I90= Synonymous 2/19 - 1
1-175046824-C-T c.270C>T p.I90= Synonymous 2/19 - 1
1-175046825-C-G c.271C>G p.R91G Missense 2/19 - 1
1-175046825-CG-AC c.271_272delinsAC p.R91T Missense 2/19 - 1
1-175046825-CGC-ATG c.271_273delinsATG p.R91M Missense 2/19 - 1
1-175046825-C-T c.271C>T p.R91C Missense 2/19 - 8
1-175046826-G-A c.272G>A p.R91H Missense 2/19 - 9
1-175046826-G-T c.272G>T p.R91L Missense 2/19 - 1
1-175046828-C-G c.274C>G p.L92V Missense 2/19 - 2
1-175046828-C-T c.274C>T p.L92F Missense 2/19 - 5
1-175046831-C-A c.277C>A p.Q93K Missense 2/19 - 1
1-175046831-C-T c.277C>T p.Q93* Nonsense 2/19 - 1
1-175046832-A-G c.278A>G p.Q93R Missense 2/19 - 1
1-175046835-C-G c.281C>G p.T94R Missense 2/19 - 1
1-175046835-CG-TC c.281_282delinsTC p.T94I Missense 2/19 - 1
1-175046835-C-T c.281C>T p.T94M Missense 2/19 - 12
1-175046836-G-C c.282G>C p.T94= Synonymous 2/19 - 1
1-175046842-G-A c.288G>A p.Q96= Synonymous 2/19 - 4
1-175046843-A-G c.289A>G p.K97E Missense 2/19 - 1
1-175046845-G-A c.291G>A p.K97= Synonymous 2/19 - 3
1-175046846-G-A c.292G>A p.D98N Missense 2/19 - 2
1-175046848-C-A c.294C>A p.D98E Missense 2/19 - 1
1-175046850-G-T c.296G>T p.C99F Missense 2/19 - 1
1-175046851-C-A c.297C>A p.C99* Nonsense 2/19 - 1
1-175046851-C-T c.297C>T p.C99= Synonymous 2/19 - 3
1-175046852-G-A c.298G>A p.E100K Missense 2/19 - 3
1-175046854-GT-CC c.300_301delinsCC p.E100D Missense 2/19 - 1
1-175046858-G-A c.304G>A p.A102T Missense 2/19 - 1
1-175046858-G-T c.304G>T p.A102S Missense 2/19 - 2
1-175046859-CA-AC c.305_306delinsAC p.A102D Missense 2/19 - 1
1-175046861-G-T c.307G>T p.G103C Missense 2/19 - 2
1-175046862-G-A c.308G>A p.G103D Missense 2/19 - 2
1-175046863-C-G c.309C>G p.G103= Synonymous 2/19 - 1
1-175046865-G-T c.311G>T p.S104I Missense 2/19 - 1
1-175046867-G-A c.313G>A p.V105I Missense 2/19 - 1
1-175046867-G-C c.313G>C p.V105L Missense 2/19 - 2
1-175046869-C-A c.315C>A p.V105= Synonymous 2/19 - 2
1-175046869-C-G c.315C>G p.V105= Synonymous 2/19 - 1
1-175046869-C-T c.315C>T p.V105= Synonymous 2/19 - 1
1-175046873-G-A c.319G>A p.D107N Missense 2/19 - 3
1-175046873-G-T c.319G>T p.D107Y Missense 2/19 - 1
1-175046874-A-G c.320A>G p.D107G Missense 2/19 - 1
1-175046875-C-T c.321C>T p.D107= Synonymous 2/19 - 1
1-175046878-C-A c.324C>A p.L108= Synonymous 2/19 - 1
1-175046878-C-T c.324C>T p.L108= Synonymous 2/19 - 2
1-175046880-T-A c.326T>A p.L109Q Missense 2/19 - 4
1-175046884-C-A c.330C>A p.A110= Synonymous 2/19 - 1
1-175046885-C-A c.331C>A p.R111= Synonymous 2/19 - 2
1-175046885-C-CAAGTCTGCCTTGGTTCA c.331_332insAAGTCTGCCTTGGTTCA p.R111Qfs*8 Frameshift 2/19 - 1
1-175046885-CG-AA c.331_332delinsAA p.R111K Missense 2/19 - 1
1-175046885-CGG-ATC c.331_333delinsATC p.R111I Missense 2/19 - 1
1-175046885-CGG-TTT c.331_333delinsTTT p.R111F Missense 2/19 - 1
1-175046887-G-A c.333G>A p.R111= Synonymous 2/19 - 1
1-175046887-G-C c.333G>C p.R111= Synonymous 2/19 - 1
1-175046886-G-A c.332G>A p.R111Q Missense 2/19 - 2
1-175046886-G-C c.332G>C p.R111P Missense 2/19 - 1
1-175046886-G-T c.332G>T p.R111L Missense 2/19 - 6
1-175046887-G-T c.333G>T p.R111= Synonymous 2/19 - 2
1-175046888-G-A c.334G>A p.V112M Missense 2/19 - 1
1-175046888-G-C c.334G>C p.V112L Missense 2/19 - 1
1-175046892-A-G c.338A>G p.K113R Missense 2/19 - 1
1-175046896-G-A c.342G>A p.K114= Synonymous 2/19 - 1
1-175046897-C-T c.343C>T p.L115= Synonymous 2/19 - 2
1-175046898-T-A c.344T>A p.L115Q Missense 2/19 - 1
1-175046898-T-C c.344T>C p.L115P Missense 2/19 - 1
1-175046899-G-A c.345G>A p.L115= Synonymous 2/19 - 1
1-175046899-G-C c.345G>C p.L115= Synonymous 2/19 - 1
1-175046899-G-T c.345G>T p.L115= Synonymous 2/19 - 1
1-175046900-G-A c.346G>A p.E116K Missense 2/19 - 2
1-175046902-G-A c.348G>A p.E116= Synonymous 2/19 - 1
1-175046902-G-T c.348G>T p.E116D Missense 2/19 - 3
1-175046904-A-G c.350A>G p.E117G Missense 2/19 - 1
1-175046906-G-A c.352G>A p.E118K Missense 2/19 - 5
1-175046909-A-G c.355A>G p.M119V Missense 2/19 - 1
1-175046911-G-A c.357G>A p.M119I Missense 2/19 - 2
1-175046911-G-C c.357G>C p.M119I Missense 2/19 - 1
1-175046911-G-T c.357G>T p.M119I Missense 2/19 - 1
1-175046912-G-T c.358G>T p.V120L Missense 2/19 - 1
1-175046913-TG-CA c.359_360inv p.V120A Missense 2/19 - 1
1-175046916-A-G c.362A>G p.E121G Missense 2/19 - 1
1-175046917-G-C c.363G>C p.E121D Missense 2/19 - 2
1-175046918-A-C c.364A>C p.M122L Missense 2/19 - 1
1-175046920-G-A c.366G>A p.M122I Missense 2/19 - 2
1-175046920-G-C c.366G>C p.M122I Missense 2/19 - 1
1-175046920-G-T c.366G>T p.M122I Missense 2/19 - 1
1-175046921-A-G c.367A>G p.K123E Missense 2/19 - 1
1-175046924-G-A c.370G>A p.E124K Missense 2/19 - 3
1-175046925-A-G c.371A>G p.E124G Missense 2/19 - 2
1-175046927-C-T c.373C>T p.Q125* Nonsense 2/19 - 2
1-175046929-G-A c.375G>A p.Q125= Synonymous 2/19 - 1
1-175046931-G-A c.377G>A p.C126Y Missense 2/19 - 1
1-175046933-AG-GC c.379_380delinsGC p.S127A Missense 2/19 - 2
1-175046933-AG-TT c.379_380delinsTT p.S127F Missense 2/19 - 1
1-175046934-G-A c.380G>A p.S127N Missense 2/19 - 2
1-175046936-G-A c.382G>A p.A128T Missense 2/19 - 1
1-175046938-C-T c.384C>T p.A128= Synonymous 2/19 - 2
1-175046939-C-A c.385C>A p.Q129K Missense 2/19 - 1
1-175046941-G-A c.387G>A p.Q129= Synonymous 2/19 - 2
1-175046941-G-C c.387G>C p.Q129H Missense 2/19 - 1
1-175046942-CGC-ATG c.388_390delinsATG p.R130M Missense 2/19 - 1
1-175046942-C-T c.388C>T p.R130C Missense 2/19 - 1
1-175046943-G-A c.389G>A p.R130H Missense 2/19 - 2
1-175046943-G-T c.389G>T p.R130L Missense 2/19 - 3
1-175046945-TG-AC c.391_392delinsAC p.C131T Missense 2/19 - 1
1-175046948-T-A c.394T>A p.C132S Missense 2/19 - 1
1-175046949-G-C c.395G>C p.C132S Missense 2/19 - 1
1-175046949-G-A c.395G>A p.C132Y Missense 2/19 - 4
1-175046951-C-A c.397C>A p.Q133K Missense 2/19 - 1
1-175046954-G-A c.400G>A p.G134R Missense 2/19 - 4
1-175046955-G-A c.401G>A p.G134E Missense 2/19 - 3
1-175046955-G-C c.401G>C p.G134A Missense 2/19 - 1
1-175046956-A-C c.402A>C p.G134= Synonymous 2/19 - 1
1-175046956-A-G c.402A>G p.G134= Synonymous 2/19 - 1
1-175046956-A-T c.402A>T p.G134= Synonymous 2/19 - 1
1-175046959-C-A c.405C>A p.V135= Synonymous 2/19 - 1
1-175046959-C-G c.405C>G p.V135= Synonymous 2/19 - 1
1-175046959-C-T c.405C>T p.V135= Synonymous 2/19 - 2
1-175046960-A-G c.406A>G p.T136A Missense 2/19 - 1
1-175046961-CT-TG c.407_408delinsTG p.T136M Missense 2/19 - 1
1-175047213-C-A c.409+250C>A - IntronicSNV - 2/18 1
1-175048144-G-C c.410-325G>C - IntronicSNV - 2/18 1
1-175048144-G-T c.410-325G>T - IntronicSNV - 2/18 1
1-175048471-C-T c.412C>T p.L138= Synonymous 3/19 - 4
1-175048475-G-A c.416G>A p.S139N Missense 3/19 - 1
1-175048474-A-C c.415A>C p.S139R Missense 3/19 - 3
1-175048476-C-A c.417C>A p.S139R Missense 3/19 - 4
1-175048476-C-G c.417C>G p.S139R Missense 3/19 - 3
1-175048476-C-T c.417C>T p.S139= Synonymous 3/19 - 1
1-175048477-CGC-AAG c.418_420delinsAAG p.R140K Missense 3/19 - 1
1-175048477-C-T c.418C>T p.R140C Missense 3/19 - 1
1-175048478-G-A c.419G>A p.R140H Missense 3/19 - 4
1-175048478-G-T c.419G>T p.R140L Missense 3/19 - 1
1-175048480-C-T c.421C>T p.H141Y Missense 3/19 - 2
1-175048481-A-G c.422A>G p.H141R Missense 3/19 - 1
1-175048489-G-A c.430G>A p.G144S Missense 3/19 - 2
1-175048490-GCCACGGGA-G c.434_441del p.H145Lfs*43 Frameshift 3/19 - 1
1-175048494-C-T c.435C>T p.H145= Synonymous 3/19 - 1
1-175048495-G-A c.436G>A p.G146R Missense 3/19 - 6
1-175048495-G-C c.436G>C p.G146R Missense 3/19 - 2
1-175048496-G-T c.437G>T p.G146V Missense 3/19 - 1
1-175048499-C-A c.440C>A p.T147N Missense 3/19 - 1
1-175048500-C-A c.441C>A p.T147= Synonymous 3/19 - 1
1-175048500-C-G c.441C>G p.T147= Synonymous 3/19 - 1
1-175048500-C-T c.441C>T p.T147= Synonymous 3/19 - 1
1-175048502-T-C c.443T>C p.F148S Missense 3/19 - 1
1-175048504-T-A c.445T>A p.S149T Missense 3/19 - 1
1-175048507-C-T c.448C>T p.L150= Synonymous 3/19 - 1
1-175048509-G-A c.450G>A p.L150= Synonymous 3/19 - 2
1-175048509-G-C c.450G>C p.L150= Synonymous 3/19 - 1
1-175048509-G-T c.450G>T p.L150= Synonymous 3/19 - 2
1-175048510-G-A c.451G>A p.E151K Missense 3/19 - 1
1-175048517-G-C c.458G>C p.C153S Missense 3/19 - 1
1-175048518-C-T c.459C>T p.C153= Synonymous 3/19 - 1
1-175048519-AG-GA c.460_461delinsGA p.S154D Missense 3/19 - 1
1-175048519-AG-GC c.460_461delinsGC p.S154A Missense 3/19 - 1
1-175048520-G-A c.461G>A p.S154N Missense 3/19 - 1
1-175048522-T-A c.463T>A p.C155S Missense 3/19 - 2
1-175048523-G-C c.464G>C p.C155S Missense 3/19 - 1
1-175048523-G-A c.464G>A p.C155Y Missense 3/19 - 1
1-175048526-A-G c.467A>G p.H156R Missense 3/19 - 1
1-175048527-C-A c.468C>A p.H156Q Missense 3/19 - 2
1-175048527-C-G c.468C>G p.H156Q Missense 3/19 - 2
1-175048528-T-A c.469T>A p.C157S Missense 3/19 - 1
1-175048529-G-C c.470G>C p.C157S Missense 3/19 - 1
1-175048530-C-A c.471C>A p.C157* Nonsense 3/19 - 1
1-175048530-C-G c.471C>G p.C157W Missense 3/19 - 1
1-175048531-G-A c.472G>A p.E158K Missense 3/19 - 1
1-175048534-G-T c.475G>T p.E159* Nonsense 3/19 - 1
1-175048537-G-C c.478G>C p.G160R Missense 3/19 - 1
1-175048537-G-T c.478G>T p.G160C Missense 3/19 - 1
1-175048541-G-T c.482G>T p.R161M Missense 3/19 - 1
1-175048542-G-A c.483G>A p.R161= Synonymous 3/19 - 1
1-175048543-G-A c.484G>A p.E162K Missense 3/19 - 5
1-175048545-G-A c.486G>A p.E162= Synonymous 3/19 - 1
1-175048546-G-A c.487G>A p.G163S Missense 3/19 - 1
1-175048549-C-A c.490C>A p.P164T Missense 3/19 - 1
1-175048549-C-G c.490C>G p.P164A Missense 3/19 - 1
1-175048551-C-A c.492C>A p.P164= Synonymous 3/19 - 2
1-175048551-C-G c.492C>G p.P164= Synonymous 3/19 - 2
1-175048551-C-T c.492C>T p.P164= Synonymous 3/19 - 4
1-175048552-G-A c.493G>A p.A165T Missense 3/19 - 1
1-175048553-C-G c.494C>G p.A165G Missense 3/19 - 1
1-175048554-C-T c.495C>T p.A165= Synonymous 3/19 - 1
1-175048557-C-T c.498C>T p.C166= Synonymous 3/19 - 1
1-175048558-G-A c.499G>A p.E167K Missense 3/19 - 2
1-175048558-G-T c.499G>T p.E167* Nonsense 3/19 - 1
1-175048560-G-C c.501G>C p.E167D Missense 3/19 - 3
1-175048560-G-T c.501G>T p.E167D Missense 3/19 - 3
1-175048561-CG-GC c.502_503delinsGC p.R168A Missense 3/19 - 1
1-175048561-C-T c.502C>T p.R168W Missense 3/19 - 1
1-175048562-G-A c.503G>A p.R168Q Missense 3/19 - 1
1-175048563-G-A c.504G>A p.R168= Synonymous 3/19 - 1
1-175048567-G-A c.508G>A p.A170T Missense 3/19 - 3
1-175048569-C-A c.510C>A p.A170= Synonymous 3/19 - 1
1-175048573-C-T c.514C>T p.P172S Missense 3/19 - 1
1-175048576-G-A c.517G>A p.G173R Missense 3/19 - 2
1-175048576-G-C c.517G>C p.G173R Missense 3/19 - 1
1-175048581-G-A c.522G>A p.A174= Synonymous 3/19 - 4
1-175048581-G-C c.522G>C p.A174= Synonymous 3/19 - 1
1-175048581-G-T c.522G>T p.A174= Synonymous 3/19 - 2
1-175048583-G-A c.524G>A p.C175Y Missense 3/19 - 2
1-175048585-AG-TA c.526_527delinsTA p.S176Y Missense 3/19 - 1
1-175048588-G-A c.529G>A p.G177S Missense 3/19 - 1
1-175048589-G-T c.530G>T p.G177V Missense 3/19 - 2
1-175048590-C-A c.531C>A p.G177= Synonymous 3/19 - 2
1-175048590-C-G c.531C>G p.G177= Synonymous 3/19 - 1
1-175048590-C-T c.531C>T p.G177= Synonymous 3/19 - 1
1-175048593-C-T c.534C>T p.H178= Synonymous 3/19 - 1
1-175048594-G-A c.535G>A p.G179R Missense 3/19 - 2
1-175048594-G-C c.535G>C p.G179R Missense 3/19 - 1
1-175048594-G-T c.535G>T p.G179W Missense 3/19 - 2
1-175048595-G-A c.536G>A p.G179E Missense 3/19 - 1
1-175048596-G-C c.537G>C p.G179= Synonymous 3/19 - 1
1-175048597-C-A c.538C>A p.R180S Missense 3/19 - 1
1-175048597-C-T c.538C>T p.R180C Missense 3/19 - 1
1-175048598-G-A c.539G>A p.R180H Missense 3/19 - 2
1-175048600-TG-AC c.541_542delinsAC p.C181T Missense 3/19 - 1
1-175048602-C-G c.543C>G p.C181W Missense 3/19 - 2
1-175048603-G-A c.544G>A p.V182M Missense 3/19 - 2
1-175048603-G-C c.544G>C p.V182L Missense 3/19 - 1
1-175048603-G-T c.544G>T p.V182L Missense 3/19 - 1
1-175048606-G-A c.547G>A p.D183N Missense 3/19 - 1
1-175048607-A-C c.548A>C p.D183A Missense 3/19 - 1
1-175048608-C-A c.549C>A p.D183E Missense 3/19 - 1
1-175048608-C-T c.549C>T p.D183= Synonymous 3/19 - 2
1-175048609-G-A c.550G>A p.G184R Missense 3/19 - 4
1-175048609-G-C c.550G>C p.G184R Missense 3/19 - 1
1-175048609-G-T c.550G>T p.G184W Missense 3/19 - 1
1-175048610-G-A c.551G>A p.G184E Missense 3/19 - 1
1-175048611-G-A c.552G>A p.G184= Synonymous 3/19 - 1
1-175048612-C-G c.553C>G p.R185G Missense 3/19 - 2
1-175048612-C-T c.553C>T p.R185C Missense 3/19 - 1
1-175048613-G-A c.554G>A p.R185H Missense 3/19 - 1
1-175048615-T-A c.556T>A p.C186S Missense 3/19 - 1
1-175048616-G-C c.557G>C p.C186S Missense 3/19 - 1
1-175048616-G-A c.557G>A p.C186Y Missense 3/19 - 1
1-175048617-C-T c.558C>T p.C186= Synonymous 3/19 - 1
1-175048619-T-A c.560T>A p.L187Q Missense 3/19 - 1
1-175048622-G-A c.563G>A p.C188Y Missense 3/19 - 1
1-175048623-C-T c.564C>T p.C188= Synonymous 3/19 - 1
1-175048624-C-T c.565C>T p.H189Y Missense 3/19 - 1
1-175048628-A-C c.569A>C p.E190A Missense 3/19 - 1
1-175048628-A-T c.569A>T p.E190V Missense 3/19 - 1
1-175048629-G-C c.570G>C p.E190D Missense 3/19 - 1
1-175048629-G-T c.570G>T p.E190D Missense 3/19 - 1
1-175048630-C-G c.571C>G p.P191A Missense 3/19 - 1
1-175048630-C-T c.571C>T p.P191S Missense 3/19 - 1
1-175048631-C-A c.572C>A p.P191H Missense 3/19 - 2
1-175048634-A-T c.575A>T p.Y192F Missense 3/19 - 1
1-175048635-C-T c.576C>T p.Y192= Synonymous 3/19 - 2
1-175048636-G-A c.577G>A p.V193M Missense 3/19 - 2
1-175048636-G-C c.577G>C p.V193L Missense 3/19 - 2
1-175048636-G-T c.577G>T p.V193L Missense 3/19 - 1
1-175048643-C-T c.584C>T p.A195V Missense 3/19 - 1
1-175048644-C-G c.585C>G p.A195= Synonymous 3/19 - 1
1-175048644-C-T c.585C>T p.A195= Synonymous 3/19 - 1
1-175048645-G-A c.586G>A p.D196N Missense 3/19 - 6
1-175048645-G-C c.586G>C p.D196H Missense 3/19 - 2
1-175048645-G-T c.586G>T p.D196Y Missense 3/19 - 1
1-175048647-C-A c.588C>A p.D196E Missense 3/19 - 2
1-175048647-C-G c.588C>G p.D196E Missense 3/19 - 2
1-175048648-TG-GC c.589_590delinsGC p.C197A Missense 3/19 - 1
1-175048649-G-T c.590G>T p.C197F Missense 3/19 - 1
1-175048651-G-A c.592G>A p.G198S Missense 3/19 - 2
1-175048652-G-T c.593G>T p.G198V Missense 3/19 - 1
1-175048656-C-A c.597C>A p.Y199* Nonsense 3/19 - 1
1-175048655-AC-A c.599del p.P200Rfs*81 Frameshift 3/19 - 2
1-175048658-CG-AT c.599_600delinsAT p.P200H Missense 3/19 - 1
1-175048658-C-T c.599C>T p.P200L Missense 3/19 - 4
1-175048660-G-T c.601G>T p.A201S Missense 3/19 - 1
1-175048661-C-T c.602C>T p.A201V Missense 3/19 - 1
1-175048663-TG-GC c.604_605delinsGC p.C202A Missense 3/19 - 1
1-175048664-G-T c.605G>T p.C202F Missense 3/19 - 1
1-175048666-C-A c.607C>A p.P203T Missense 3/19 - 3
1-175048673-A-G c.614A>G p.N205S Missense 3/19 - 1
1-175048679-G-A c.620G>A p.S207N Missense 3/19 - 1
1-175048678-A-C c.619A>C p.S207R Missense 3/19 - 1
1-175048680-C-A c.621C>A p.S207R Missense 3/19 - 1
1-175048680-C-G c.621C>G p.S207R Missense 3/19 - 1
1-175048681-G-A c.622G>A p.G208R Missense 3/19 - 1
1-175048681-G-C c.622G>C p.G208R Missense 3/19 - 2
1-175048682-G-C c.623G>C p.G208A Missense 3/19 - 1
1-175048683-A-T c.624A>T p.G208= Synonymous 3/19 - 1
1-175048687-G-A c.628G>A p.G210S Missense 3/19 - 5
1-175048687-G-T c.628G>T p.G210C Missense 3/19 - 1
1-175048688-G-A c.629G>A p.G210D Missense 3/19 - 1
1-175048690-G-A c.631G>A p.E211K Missense 3/19 - 2
1-175048690-G-T c.631G>T p.E211* Nonsense 3/19 - 1
1-175048695-C-A c.636C>A p.C212* Nonsense 3/19 - 1
1-175048696-G-A c.637G>A p.V213M Missense 3/19 - 1
1-175048699-C-A c.640C>A p.R214S Missense 3/19 - 1
1-175048700-G-A c.641G>A p.R214H Missense 3/19 - 1
1-175048702-G-A c.643G>A p.G215S Missense 3/19 - 1
1-175048703-G-T c.644G>T p.G215V Missense 3/19 - 2
1-175048705-G-A c.646G>A p.V216M Missense 3/19 - 5
1-175048705-G-C c.646G>C p.V216L Missense 3/19 - 1
1-175048705-G-T c.646G>T p.V216L Missense 3/19 - 1
1-175048706-T-A c.647T>A p.V216E Missense 3/19 - 1
1-175048709-G-A c.650G>A p.C217Y Missense 3/19 - 1
1-175048713-G-T c.654G>T p.Q218H Missense 3/19 - 1
1-175048716-C-G c.657C>G p.C219W Missense 3/19 - 1
1-175048719-C-T c.660C>T p.H220= Synonymous 3/19 - 2
1-175048720-G-A c.661G>A p.E221K Missense 3/19 - 3
1-175048726-T-C c.667T>C p.F223L Missense 3/19 - 1
1-175048726-T-G c.667T>G p.F223V Missense 3/19 - 1
1-175048727-T-G c.668T>G p.F223C Missense 3/19 - 1
1-175048728-C-A c.669C>A p.F223L Missense 3/19 - 1
1-175048731-G-A c.672G>A p.M224I Missense 3/19 - 1
1-175048731-G-C c.672G>C p.M224I Missense 3/19 - 1
1-175048731-G-T c.672G>T p.M224I Missense 3/19 - 2
1-175048734-G-A c.675G>A p.S225= Synonymous 3/19 - 2
1-175048735-G-C c.676G>C p.E226Q Missense 3/19 - 2
1-175048736-A-C c.677A>C p.E226A Missense 3/19 - 1
1-175048738-G-A c.679G>A p.D227N Missense 3/19 - 2
1-175048738-G-T c.679G>T p.D227Y Missense 3/19 - 2
1-175048741-TG-AC c.682_683delinsAC p.C228T Missense 3/19 - 2
1-175048745-G-A c.686G>A p.S229N Missense 3/19 - 1
1-175048747-G-A c.688G>A p.E230K Missense 3/19 - 3
1-175048754-G-A c.695G>A p.R232H Missense 3/19 - 2
1-175048754-G-C c.695G>C p.R232P Missense 3/19 - 1
1-175048754-G-T c.695G>T p.R232L Missense 3/19 - 1
1-175048755-C-T c.696C>T p.R232= Synonymous 3/19 - 1
1-175048756-T-A c.697T>A p.C233S Missense 3/19 - 1
1-175048757-G-C c.698G>C p.C233S Missense 3/19 - 1
1-175048758-T-C c.699T>C p.C233= Synonymous 3/19 - 2
1-175048759-C-A c.700C>A p.P234T Missense 3/19 - 1
1-175048759-C-T c.700C>T p.P234S Missense 3/19 - 1
1-175048761-C-A c.702C>A p.P234= Synonymous 3/19 - 1
1-175048762-G-A c.703G>A p.G235S Missense 3/19 - 1
1-175048764-C-A c.705C>A p.G235= Synonymous 3/19 - 3
1-175048764-C-G c.705C>G p.G235= Synonymous 3/19 - 3
1-175048764-C-T c.705C>T p.G235= Synonymous 3/19 - 4
1-175048765-G-A c.706G>A p.D236N Missense 3/19 - 3
1-175048765-G-T c.706G>T p.D236Y Missense 3/19 - 4
1-175048771-A-G c.712A>G p.S238G Missense 3/19 - 1
1-175048774-G-T c.715G>T p.G239C Missense 3/19 - 1
1-175048779-C-A c.720C>A p.H240Q Missense 3/19 - 1
1-175048779-C-G c.720C>G p.H240Q Missense 3/19 - 1
1-175048779-C-T c.720C>T p.H240= Synonymous 3/19 - 1
1-175048781-G-A c.722G>A p.G241D Missense 3/19 - 1
1-175048782-C-T c.723C>T p.G241= Synonymous 3/19 - 1
1-175048784-T-C c.725T>C p.F242S Missense 3/19 - 1
1-175048787-G-C c.728G>C p.C243S Missense 3/19 - 1
1-175048789-G-C c.730G>C p.D244H Missense 3/19 - 3
1-175048793-C-T c.734C>T p.T245M Missense 3/19 - 1
1-175048794-G-A c.735G>A p.T245= Synonymous 3/19 - 1
1-175048794-G-T c.735G>T p.T245= Synonymous 3/19 - 1
1-175048795-G-T c.736G>T p.G246C Missense 3/19 - 1
1-175048796-G-A c.737G>A p.G246D Missense 3/19 - 1
1-175048797-C-A c.738C>A p.G246= Synonymous 3/19 - 2
1-175048797-C-G c.738C>G p.G246= Synonymous 3/19 - 2
1-175048797-C-T c.738C>T p.G246= Synonymous 3/19 - 3
1-175048798-G-A c.739G>A p.E247K Missense 3/19 - 1
1-175048801-T-A c.742T>A p.C248S Missense 3/19 - 1
1-175048803-C-G c.744C>G p.C248W Missense 3/19 - 1
1-175048803-C-T c.744C>T p.C248= Synonymous 3/19 - 1
1-175048810-G-A c.751G>A p.E251K Missense 3/19 - 2
1-175048810-G-T c.751G>T p.E251* Nonsense 3/19 - 1
1-175048813-G-A c.754G>A p.E252K Missense 3/19 - 2
1-175048813-G-C c.754G>C p.E252Q Missense 3/19 - 1
1-175048813-G-T c.754G>T p.E252* Nonsense 3/19 - 1
1-175048816-GGGC-G c.757_759del p.G253del InFrameDeletion 3/19 - 1
1-175048821-C-T c.762C>T p.F254= Synonymous 3/19 - 1
1-175048827-C-A c.768C>A p.G256= Synonymous 3/19 - 1
1-175048841-A-T c.782A>T p.Q261L Missense 3/19 - 1
1-175048842-G-C c.783G>C p.Q261H Missense 3/19 - 1
1-175048842-G-T c.783G>T p.Q261H Missense 3/19 - 1
1-175048844-G-A c.784+1G>A - IntronicSNV - 3/18 1
1-175048851-C-A c.784+8C>A - IntronicSNV - 3/18 1
1-175049299-T-G c.785T>G p.V262G Missense 4/19 - 1
1-175049307-C-A c.793C>A p.P265T Missense 4/19 - 2
1-175049307-C-G c.793C>G p.P265A Missense 4/19 - 3
1-175049310-C-T c.796C>T p.Q266* Nonsense 4/19 - 3
1-175049311-A-G c.797A>G p.Q266R Missense 4/19 - 1
1-175049312-G-A c.798G>A p.Q266= Synonymous 4/19 - 1
1-175049313-G-A c.799G>A p.G267S Missense 4/19 - 2
1-175049314-G-A c.800G>A p.G267D Missense 4/19 - 1
1-175049314-GC-AG c.800_801delinsAG p.G267E Missense 4/19 - 1
1-175049316-C-G c.802C>G p.L268V Missense 4/19 - 1
1-175049316-C-T c.802C>T p.L268= Synonymous 4/19 - 1
1-175049317-T-C c.803T>C p.L268P Missense 4/19 - 1
1-175049319-C-A c.805C>A p.Q269K Missense 4/19 - 2
1-175049319-C-T c.805C>T p.Q269* Nonsense 4/19 - 2
1-175049321-G-C c.807G>C p.Q269H Missense 4/19 - 6
1-175049321-G-T c.807G>T p.Q269H Missense 4/19 - 2
1-175049323-T-C c.809T>C p.L270P Missense 4/19 - 1
1-175049324-G-A c.810G>A p.L270= Synonymous 4/19 - 1
1-175049327-C-T c.813C>T p.L271= Synonymous 4/19 - 1
1-175049329-A-C c.815A>C p.K272T Missense 4/19 - 1
1-175049331-A-T c.817A>T p.N273Y Missense 4/19 - 1
1-175049335-C-A c.821C>A p.T274K Missense 4/19 - 3
1-175049335-C-T c.821C>T p.T274M Missense 4/19 - 3
1-175049336-G-A c.822G>A p.T274= Synonymous 4/19 - 2
1-175049337-G-A c.823G>A p.E275K Missense 4/19 - 7
1-175049335-CGGA-C c.825_827del p.E275del InFrameDeletion 4/19 - 1
1-175049339-G-A c.825G>A p.E275= Synonymous 4/19 - 3
1-175049339-G-C c.825G>C p.E275D Missense 4/19 - 1
1-175049339-G-T c.825G>T p.E275D Missense 4/19 - 1
1-175049344-C-T c.830C>T p.S277F Missense 4/19 - 3
1-175049348-G-C c.834G>C p.L278= Synonymous 4/19 - 1
1-175049349-CTG-ATC c.835_837delinsATC p.L279I Missense 4/19 - 1
1-175049349-C-T c.835C>T p.L279= Synonymous 4/19 - 1
1-175049351-G-A c.837G>A p.L279= Synonymous 4/19 - 4
1-175049351-G-C c.837G>C p.L279= Synonymous 4/19 - 1
1-175049351-G-T c.837G>T p.L279= Synonymous 4/19 - 2
1-175049354-G-A c.840G>A p.V280= Synonymous 4/19 - 2
1-175049355-AG-TT c.841_842delinsTT p.S281F Missense 4/19 - 2
1-175049357-C-T c.843C>T p.S281= Synonymous 4/19 - 1
1-175049360-G-A c.846G>A p.W282* Nonsense 4/19 - 1
1-175049360-G-C c.846G>C p.W282C Missense 4/19 - 2
1-175049360-G-T c.846G>T p.W282C Missense 4/19 - 2
1-175049365-C-G c.851C>G p.P284R Missense 4/19 - 1
1-175049367-TC-AT c.853_854delinsAT p.S285I Missense 4/19 - 1
1-175049373-C-T c.859C>T p.Q287* Nonsense 4/19 - 4
1-175049375-G-A c.861G>A p.Q287= Synonymous 4/19 - 3
1-175049379-G-A c.865G>A p.D289N Missense 4/19 - 21
1-175049379-G-T c.865G>T p.D289Y Missense 4/19 - 2
1-175049380-A-G c.866A>G p.D289G Missense 4/19 - 1
1-175049381-T-C c.867T>C p.D289= Synonymous 4/19 - 1
1-175049382-C-T c.868C>T p.H290Y Missense 4/19 - 2
1-175049383-A-G c.869A>G p.H290R Missense 4/19 - 1
1-175049390-C-A c.876C>A p.L292= Synonymous 4/19 - 1
1-175049390-C-G c.876C>G p.L292= Synonymous 4/19 - 1
1-175049390-C-T c.876C>T p.L292= Synonymous 4/19 - 1
1-175049398-A-T c.884A>T p.Y295F Missense 4/19 - 1
1-175049400-T-C c.886T>C p.Y296H Missense 4/19 - 1
1-175049401-A-C c.887A>C p.Y296S Missense 4/19 - 2
1-175049402-C-A c.888C>A p.Y296* Nonsense 4/19 - 3
1-175049402-C-G c.888C>G p.Y296* Nonsense 4/19 - 2
1-175049403-C-T c.889C>T p.P297S Missense 4/19 - 2
1-175049404-C-T c.890C>T p.P297L Missense 4/19 - 2
1-175049405-C-A c.891C>A p.P297= Synonymous 4/19 - 1
1-175049405-C-G c.891C>G p.P297= Synonymous 4/19 - 1
1-175049405-C-T c.891C>T p.P297= Synonymous 4/19 - 3
1-175049401-AC-A c.892del p.L298Wfs*31 Frameshift 4/19 - 1
1-175049406-C-A c.892C>A p.L298M Missense 4/19 - 2
1-175049408-G-C c.894G>C p.L298= Synonymous 4/19 - 1
1-175049408-G-T c.894G>T p.L298= Synonymous 4/19 - 1
1-175049409-G-A c.895G>A p.G299R Missense 4/19 - 1
1-175049409-G-C c.895G>C p.G299R Missense 4/19 - 1
1-175049410-G-A c.896G>A p.G299E Missense 4/19 - 4
1-175049414-G-A c.900G>A p.K300= Synonymous 4/19 - 2
1-175049415-G-A c.901G>A p.E301K Missense 4/19 - 2
1-175049416-A-G c.902A>G p.E301G Missense 4/19 - 1
1-175049417-G-C c.903G>C p.E301D Missense 4/19 - 1
1-175049417-G-T c.903G>T p.E301D Missense 4/19 - 1
1-175049418-C-A c.904C>A p.L302I Missense 4/19 - 1
1-175049419-T-C c.905T>C p.L302P Missense 4/19 - 1
1-175049420-C-T c.906C>T p.L302= Synonymous 4/19 - 1
1-175049421-T-G c.907T>G p.S303A Missense 4/19 - 1
1-175049422-C-G c.908C>G p.S303C Missense 4/19 - 1
1-175049424-G-T c.910G>T p.G304W Missense 4/19 - 1
1-175049425-G-A c.911G>A p.G304E Missense 4/19 - 2
1-175049430-C-A c.916C>A p.Q306K Missense 4/19 - 2
1-175049436-C-T c.922C>T p.Q308* Nonsense 4/19 - 1
1-175049437-A-G c.923A>G p.Q308R Missense 4/19 - 1
1-175049440-T-G c.926T>G p.V309G Missense 4/19 - 1
1-175049442-C-T c.928C>T p.P310S Missense 4/19 - 2
1-175049443-C-A c.929C>A p.P310H Missense 4/19 - 1
1-175049443-C-T c.929C>T p.P310L Missense 4/19 - 1
1-175049448-G-A c.934G>A p.E312K Missense 4/19 - 5
1-175049448-G-C c.934G>C p.E312Q Missense 4/19 - 1
1-175049448-G-T c.934G>T p.E312* Nonsense 4/19 - 1
1-175049452-A-C c.938A>C p.Q313P Missense 4/19 - 1
1-175049453-G-A c.939G>A p.Q313= Synonymous 4/19 - 2
1-175049457-AG-GC c.943_944delinsGC p.S315A Missense 4/19 - 1
1-175049458-G-T c.944G>T p.S315I Missense 4/19 - 2
1-175049463-G-A c.949G>A p.E317K Missense 4/19 - 5
1-175049465-G-A c.951G>A p.E317= Synonymous 4/19 - 1
1-175049465-G-C c.951G>C p.E317D Missense 4/19 - 1
1-175049465-G-T c.951G>T p.E317D Missense 4/19 - 1
1-175049466-A-G c.952A>G p.I318V Missense 4/19 - 1
1-175049469-C-A c.955C>A p.L319I Missense 4/19 - 2
1-175049469-C-T c.955C>T p.L319F Missense 4/19 - 2
1-175049472-G-T c.958G>T p.G320C Missense 4/19 - 2
1-175049473-G-C c.959G>C p.G320A Missense 4/19 - 2
1-175049473-G-T c.959G>T p.G320V Missense 4/19 - 3
1-175049475-T-C c.961T>C p.L321= Synonymous 4/19 - 1
1-175049484-G-A c.970G>A p.G324R Missense 4/19 - 5
1-175049485-G-A c.971G>A p.G324E Missense 4/19 - 1
1-175049488-C-G c.974C>G p.T325S Missense 4/19 - 1
1-175049488-C-T c.974C>T p.T325I Missense 4/19 - 1
1-175049491-A-G c.977A>G p.K326R Missense 4/19 - 4
1-175049493-T-A c.979T>A p.Y327N Missense 4/19 - 1
1-175049503-C-A c.989C>A p.T330N Missense 4/19 - 1
1-175049508-C-A c.994C>A p.R332S Missense 4/19 - 5
1-175049508-C-T c.994C>T p.R332C Missense 4/19 - 4
1-175049509-G-A c.995G>A p.R332H Missense 4/19 - 4
1-175049510-T-A c.996T>A p.R332= Synonymous 4/19 - 1
1-175049510-T-C c.996T>C p.R332= Synonymous 4/19 - 1
1-175049510-T-G c.996T>G p.R332= Synonymous 4/19 - 1
1-175049513-C-T c.999C>T p.N333= Synonymous 4/19 - 1
1-175049514-G-A c.1000G>A p.V334I Missense 4/19 - 1
1-175049515-T-C c.1001T>C p.V334A Missense 4/19 - 1
1-175049518-AG-TC c.1004_1005delinsTC p.K335I Missense 4/19 - 1
1-175049518-A-T c.1004A>T p.K335M Missense 4/19 - 1
1-175049519-G-C c.1005G>C p.K335N Missense 4/19 - 2
1-175049519-G-T c.1005G>T p.K335N Missense 4/19 - 1
1-175049523-G-A c.1009G>A p.E337K Missense 4/19 - 2
1-175049523-G-T c.1009G>T p.E337* Nonsense 4/19 - 1
1-175049525-A-C c.1011A>C p.E337D Missense 4/19 - 1
1-175049525-A-T c.1011A>T p.E337D Missense 4/19 - 1
1-175049531-T-A c.1017T>A p.S339= Synonymous 4/19 - 3
1-175049531-T-C c.1017T>C p.S339= Synonymous 4/19 - 3
1-175049531-T-G c.1017T>G p.S339= Synonymous 4/19 - 4
1-175049532-A-C c.1018A>C p.S340R Missense 4/19 - 1
1-175049533-G-T c.1019G>T p.S340I Missense 4/19 - 3
1-175049536-AGC-A c.1022_1023del p.S341Tfs*21 Frameshift 4/19 - 1
1-175049541-C-T c.1027C>T p.Q343* Nonsense 4/19 - 1
1-175049544-C-A c.1030C>A p.H344N Missense 4/19 - 1
1-175049544-C-T c.1030C>T p.H344Y Missense 4/19 - 2
1-175049546-T-A c.1032T>A p.H344Q Missense 4/19 - 1
1-175049546-T-G c.1032T>G p.H344Q Missense 4/19 - 1
1-175049547-C-A c.1033C>A p.L345I Missense 4/19 - 1
1-175049547-C-G c.1033C>G p.L345V Missense 4/19 - 1
1-175049547-C-T c.1033C>T p.L345= Synonymous 4/19 - 1
1-175049551-T-C c.1037T>C p.L346P Missense 4/19 - 4
1-175049551-T-G c.1037T>G p.L346R Missense 4/19 - 2
1-175049556-A-G c.1042A>G p.T348A Missense 4/19 - 1
1-175049557-ACC-A c.1043_1044del p.T348Nfs*14 Frameshift 4/19 - 1
1-175049559-A-T c.1045A>T p.T349S Missense 4/19 - 1
1-175049560-C-T c.1046C>T p.T349I Missense 4/19 - 1
1-175049562-G-A c.1048G>A p.D350N Missense 4/19 - 6
1-175049673-A-C c.1048+111A>C - IntronicSNV - 4/18 1
1-175050444-T-C c.1048+882T>C - IntronicSNV - 4/18 1
1-175052828-G-A c.1049-58G>A - IntronicSNV - 4/18 5
1-175052888-C-A c.1051C>A p.L351I Missense 5/19 - 1
1-175052888-C-G c.1051C>G p.L351V Missense 5/19 - 2
1-175052888-C-T c.1051C>T p.L351F Missense 5/19 - 2
1-175052888-C-CT c.1053dup p.A352Cfs*11 Frameshift 5/19 - 1
1-175052891-G-A c.1054G>A p.A352T Missense 5/19 - 1
1-175052894-G-A c.1057G>A p.V353M Missense 5/19 - 1
1-175052894-GTG-ATC c.1057_1059delinsATC p.V353I Missense 5/19 - 1
1-175052897-C-A c.1060C>A p.L354I Missense 5/19 - 2
1-175052904-C-T c.1067C>T p.T356I Missense 5/19 - 1
1-175052906-G-T c.1069G>T p.A357S Missense 5/19 - 1
1-175052907-C-A c.1070C>A p.A357D Missense 5/19 - 1
1-175052910-G-A c.1073G>A p.W358* Nonsense 5/19 - 2
1-175052911-G-A c.1074G>A p.W358* Nonsense 5/19 - 1
1-175052912-GTG-TTT c.1075_1077delinsTTT p.V359F Missense 5/19 - 1
1-175052916-C-T c.1079C>T p.T360I Missense 5/19 - 1
1-175052918-G-A c.1081G>A p.D361N Missense 5/19 - 5
1-175052920-T-A c.1083T>A p.D361E Missense 5/19 - 1
1-175052920-T-G c.1083T>G p.D361E Missense 5/19 - 1
1-175052929-G-C c.1092G>C p.E364D Missense 5/19 - 4
1-175052929-G-T c.1092G>T p.E364D Missense 5/19 - 4
1-175052934-C-T c.1097C>T p.S366F Missense 5/19 - 5
1-175052936-C-A c.1099C>A p.L367I Missense 5/19 - 1
1-175052938-T-A c.1101T>A p.L367= Synonymous 5/19 - 1
1-175052938-T-C c.1101T>C p.L367= Synonymous 5/19 - 1
1-175052938-T-G c.1101T>G p.L367= Synonymous 5/19 - 1
1-175052939-G-T c.1102G>T p.D368Y Missense 5/19 - 2
1-175052941-C-T c.1104C>T p.D368= Synonymous 5/19 - 1
1-175052942-G-A c.1105G>A p.V369M Missense 5/19 - 1
1-175052944-G-A c.1107G>A p.V369= Synonymous 5/19 - 3
1-175052945-G-A c.1108G>A p.E370K Missense 5/19 - 6
1-175052946-A-C c.1109A>C p.E370A Missense 5/19 - 1
1-175052949-G-T c.1112G>T p.W371L Missense 5/19 - 1
1-175052951-G-A c.1114G>A p.E372K Missense 5/19 - 2
1-175052954-A-T c.1117A>T p.N373Y Missense 5/19 - 1
1-175052955-A-C c.1118A>C p.N373T Missense 5/19 - 7
1-175052957-C-A c.1120C>A p.P374T Missense 5/19 - 1
1-175052958-C-A c.1121C>A p.P374H Missense 5/19 - 1
1-175052961-C-T c.1124C>T p.S375L Missense 5/19 - 1
1-175052966-G-A c.1129G>A p.E377K Missense 5/19 - 7
1-175052966-GA-AG c.1129_1130delinsAG p.E377R Missense 5/19 - 1
1-175052971-G-A c.1134G>A p.V378= Synonymous 5/19 - 1
1-175052971-G-C c.1134G>C p.V378= Synonymous 5/19 - 1
1-175052971-G-T c.1134G>T p.V378= Synonymous 5/19 - 2
1-175052972-G-A c.1135G>A p.D379N Missense 5/19 - 2
1-175052974-C-T c.1137C>T p.D379= Synonymous 5/19 - 1
1-175052980-C-A c.1143C>A p.Y381* Nonsense 5/19 - 1
1-175052980-C-G c.1143C>G p.Y381* Nonsense 5/19 - 1
1-175052983-G-T c.1146G>T p.K382N Missense 5/19 - 1
1-175052985-T-A c.1148T>A p.L383Q Missense 5/19 - 1
1-175052986-G-T c.1149G>T p.L383= Synonymous 5/19 - 1
1-175052987-C-T c.1150C>T p.R384* Nonsense 5/19 - 3
1-175052988-G-A c.1151G>A p.R384Q Missense 5/19 - 4
1-175052991-A-T c.1154A>T p.Y385F Missense 5/19 - 1
1-175052995-C-T c.1158C>T p.G386= Synonymous 5/19 - 1
1-175052996-C-G c.1159C>G p.P387A Missense 5/19 - 3
1-175052996-C-T c.1159C>T p.P387S Missense 5/19 - 2
1-175052998-C-T c.1161C>T p.P387= Synonymous 5/19 - 1
1-175053001-G-A c.1164G>A p.M388I Missense 5/19 - 1
1-175053001-G-C c.1164G>C p.M388I Missense 5/19 - 1
1-175053001-G-T c.1164G>T p.M388I Missense 5/19 - 1
1-175053004-A-C c.1167A>C p.T389= Synonymous 5/19 - 1
1-175053004-A-G c.1167A>G p.T389= Synonymous 5/19 - 1
1-175053004-A-T c.1167A>T p.T389= Synonymous 5/19 - 2
1-175053005-G-A c.1168G>A p.G390R Missense 5/19 - 1
1-175053005-G-C c.1168G>C p.G390R Missense 5/19 - 1
1-175053010-G-C c.1173G>C p.Q391H Missense 5/19 - 1
1-175053010-G-T c.1173G>T p.Q391H Missense 5/19 - 1
1-175053011-G-T c.1174G>T p.E392* Nonsense 5/19 - 1
1-175053014-GTA-ATG c.1177_1179delinsATG p.V393M Missense 5/19 - 1
1-175053017-G-T c.1180G>T p.A394S Missense 5/19 - 3
1-175053018-C-T c.1181C>T p.A394V Missense 5/19 - 1
1-175053027-CT-AG c.1190_1191inv p.T397K Missense 5/19 - 1
1-175053028-T-A c.1191T>A p.T397= Synonymous 5/19 - 1
1-175053028-T-C c.1191T>C p.T397= Synonymous 5/19 - 1
1-175053028-T-G c.1191T>G p.T397= Synonymous 5/19 - 1
1-175053029-G-C c.1192G>C p.V398L Missense 5/19 - 2
1-175053029-G-T c.1192G>T p.V398L Missense 5/19 - 1
1-175053031-G-A c.1194G>A p.V398= Synonymous 5/19 - 1
1-175053031-G-C c.1194G>C p.V398= Synonymous 5/19 - 1
1-175053031-G-T c.1194G>T p.V398= Synonymous 5/19 - 1
1-175053032-C-T c.1195C>T p.P399S Missense 5/19 - 2
1-175053033-C-T c.1196C>T p.P399L Missense 5/19 - 1
1-175053034-C-T c.1197C>T p.P399= Synonymous 5/19 - 1
1-175053038-AG-GA c.1201_1202delinsGA p.S401D Missense 5/19 - 1
1-175053038-AG-GC c.1201_1202delinsGC p.S401A Missense 5/19 - 1
1-175053046-C-A c.1209C>A p.D403E Missense 5/19 - 1
1-175053046-C-G c.1209C>G p.D403E Missense 5/19 - 1
1-175053048-C-G c.1211C>G p.P404R Missense 5/19 - 3
1-175053049-C-T c.1212C>T p.P404= Synonymous 5/19 - 1
1-175053051-A-G c.1214A>G p.K405R Missense 5/19 - 1
1-175053053-AG-TA c.1216_1217delinsTA p.S406Y Missense 5/19 - 1
1-175053056-C-T c.1219C>T p.R407* Nonsense 5/19 - 1
1-175053060-A-G c.1223A>G p.Y408C Missense 5/19 - 1
1-175053060-ATGACATCACTGG-A c.1225_1234+2del - SpliceDonorDeletion 5/19 5/18 1
1-175053062-G-A c.1225G>A p.D409N Missense 5/19 - 4
1-175053064-C-A c.1227C>A p.D409E Missense 5/19 - 1
1-175053067-C-T c.1230C>T p.I410= Synonymous 5/19 - 1
1-175053068-A-T c.1231A>T p.T411S Missense 5/19 - 1
1-175053069-C-G c.1232C>G p.T411S Missense 5/19 - 1
1-175053076-G-A c.1234+5G>A - IntronicSNV - 5/18 1
1-175053098-T-C c.1234+27T>C - IntronicSNV - 5/18 3
1-175053101-A-T c.1234+30A>T - IntronicSNV - 5/18 6
1-175053972-T-A c.1235-569T>A - IntronicSNV - 5/18 1
1-175054418-A-G c.1235-123A>G - IntronicSNV - 5/18 2
1-175054544-T-G c.1238T>G p.L413R Missense 6/19 - 4
1-175054546-C-T c.1240C>T p.H414Y Missense 6/19 - 1
1-175054547-A-G c.1241A>G p.H414R Missense 6/19 - 1
1-175054548-C-G c.1242C>G p.H414Q Missense 6/19 - 2
1-175054548-C-T c.1242C>T p.H414= Synonymous 6/19 - 16
1-175054549-CC-AG c.1243_1244delinsAG p.P415R Missense 6/19 - 1
1-175054550-C-A c.1244C>A p.P415Q Missense 6/19 - 1
1-175054550-C-G c.1244C>G p.P415R Missense 6/19 - 2
1-175054550-C-T c.1244C>T p.P415L Missense 6/19 - 5
1-175054551-G-A c.1245G>A p.P415= Synonymous 6/19 - 2
1-175054553-G-A c.1247G>A p.G416E Missense 6/19 - 2
1-175054550-CG-C c.1248del p.T417Lfs*10 Frameshift 6/19 - 1
1-175054556-C-T c.1250C>T p.T417I Missense 6/19 - 1
1-175054557-T-A c.1251T>A p.T417= Synonymous 6/19 - 1
1-175054557-T-C c.1251T>C p.T417= Synonymous 6/19 - 1
1-175054557-T-G c.1251T>G p.T417= Synonymous 6/19 - 1
1-175054558-G-A c.1252G>A p.E418K Missense 6/19 - 1
1-175054558-G-T c.1252G>T p.E418* Nonsense 6/19 - 1
1-175054570-A-C c.1264A>C p.T422P Missense 6/19 - 1
1-175054570-ACG-TGT c.1264_1266delinsTGT p.T422C Missense 6/19 - 1
1-175054571-C-A c.1265C>A p.T422K Missense 6/19 - 1
1-175054573-G-C c.1267G>C p.V423L Missense 6/19 - 3
1-175054573-G-T c.1267G>T p.V423L Missense 6/19 - 2
1-175054580-C-T c.1274C>T p.P425L Missense 6/19 - 2
1-175054583-T-C c.1277T>C p.M426T Missense 6/19 - 1
1-175054584-G-A c.1278G>A p.M426I Missense 6/19 - 1
1-175054584-G-C c.1278G>C p.M426I Missense 6/19 - 1
1-175054584-G-T c.1278G>T p.M426I Missense 6/19 - 1
1-175054585-AGA-TGT c.1279_1281delinsTGT p.R427C Missense 6/19 - 1
1-175054586-G-A c.1280G>A p.R427K Missense 6/19 - 2
1-175054588-G-A c.1282G>A p.G428R Missense 6/19 - 5
1-175054588-G-C c.1282G>C p.G428R Missense 6/19 - 1
1-175054588-GG-AC c.1282_1283delinsAC p.G428T Missense 6/19 - 1
1-175054589-G-A c.1283G>A p.G428E Missense 6/19 - 1
1-175054589-G-C c.1283G>C p.G428A Missense 6/19 - 1
1-175054592-A-T c.1286A>T p.E429V Missense 6/19 - 1
1-175054593-G-A c.1287G>A p.E429= Synonymous 6/19 - 1
1-175054594-C-T c.1288C>T p.L430= Synonymous 6/19 - 1
1-175054599-G-C c.1293G>C p.E431D Missense 6/19 - 2
1-175054599-G-T c.1293G>T p.E431D Missense 6/19 - 1
1-175054600-G-C c.1294G>C p.G432R Missense 6/19 - 1
1-175054601-G-T c.1295G>T p.G432V Missense 6/19 - 1
1-175054602-C-A c.1296C>A p.G432= Synonymous 6/19 - 1
1-175054604-A-G c.1298A>G p.K433R Missense 6/19 - 2
1-175054606-C-A c.1300C>A p.P434T Missense 6/19 - 1
1-175054608-G-A c.1302G>A p.P434= Synonymous 6/19 - 2
1-175054608-G-T c.1302G>T p.P434= Synonymous 6/19 - 1
1-175054613-T-C c.1307T>C p.L436P Missense 6/19 - 1
1-175054614-C-T c.1308C>T p.L436= Synonymous 6/19 - 3
1-175054615-C-T c.1309C>T p.L437= Synonymous 6/19 - 1
1-175054620-T-C c.1314T>C p.N438= Synonymous 6/19 - 1
1-175054621-G-T c.1315G>T p.G439C Missense 6/19 - 1
1-175054622-G-A c.1316G>A p.G439D Missense 6/19 - 2
1-175054624-A-G c.1318A>G p.R440G Missense 6/19 - 1
1-175054624-A-T c.1318A>T p.R440W Missense 6/19 - 1
1-175054626-G-A c.1320G>A p.R440= Synonymous 6/19 - 1
1-175054626-G-C c.1320G>C p.R440S Missense 6/19 - 3
1-175054626-G-T c.1320G>T p.R440S Missense 6/19 - 8
1-175054627-A-C c.1321A>C p.T441P Missense 6/19 - 1
1-175054627-A-T c.1321A>T p.T441S Missense 6/19 - 1
1-175054628-C-A c.1322C>A p.T441K Missense 6/19 - 3
1-175054662-T-A c.1324+32T>A - IntronicSNV - 6/18 1
1-175054695-T-A c.1324+65T>A - IntronicSNV - 6/18 1
1-175054697-A-G c.1324+67A>G - IntronicSNV - 6/18 1
1-175054748-C-T c.1324+118C>T - IntronicSNV - 6/18 1
1-175058122-C-T c.1324+3492C>T - IntronicSNV - 6/18 1
1-175063131-G-A c.1330G>A p.D444N Missense 7/19 - 1
1-175063135-G-T c.1334G>T p.S445I Missense 7/19 - 3
1-175063149-G-C c.1348G>C p.V450L Missense 7/19 - 3
1-175063150-T-C c.1349T>C p.V450A Missense 7/19 - 1
1-175063154-T-G c.1353T>G p.T451= Synonymous 7/19 - 1
1-175063155-G-A c.1354G>A p.D452N Missense 7/19 - 1
1-175063158-C-A c.1357C>A p.R453= Synonymous 7/19 - 1
1-175063158-C-T c.1357C>T p.R453* Nonsense 7/19 - 3
1-175063159-G-T c.1358G>T p.R453L Missense 7/19 - 1
1-175063159-G-GAA c.1359_1360insAA p.V454Kfs*2 Frameshift 7/19 - 1
1-175063163-G-A c.1362G>A p.V454= Synonymous 7/19 - 3
1-175063167-G-A c.1366G>A p.E456K Missense 7/19 - 1
1-175063170-G-T c.1369G>T p.D457Y Missense 7/19 - 1
1-175063176-G-A c.1375G>A p.A459T Missense 7/19 - 3
1-175063177-C-A c.1376C>A p.A459E Missense 7/19 - 3
1-175063178-A-T c.1377A>T p.A459= Synonymous 7/19 - 1
1-175063180-C-T c.1379C>T p.T460I Missense 7/19 - 2
1-175063182-G-A c.1381G>A p.V461I Missense 7/19 - 3
1-175063184-C-T c.1383C>T p.V461= Synonymous 7/19 - 3
1-175063186-C-T c.1385C>T p.S462F Missense 7/19 - 1
1-175063191-G-A c.1390G>A p.D464N Missense 7/19 - 5
1-175063191-G-T c.1390G>T p.D464Y Missense 7/19 - 1
1-175063194-C-T c.1393C>T p.P465S Missense 7/19 - 1
1-175063195-C-T c.1394C>T p.P465L Missense 7/19 - 1
1-175063197-G-A c.1396G>A p.V466M Missense 7/19 - 1
1-175063198-T-G c.1397T>G p.V466G Missense 7/19 - 1
1-175063199-G-A c.1398G>A p.V466= Synonymous 7/19 - 1
1-175063202-G-T c.1401G>T p.Q467H Missense 7/19 - 1
1-175063203-G-A c.1402G>A p.A468T Missense 7/19 - 1
1-175063206-GTC-ATG c.1405_1407delinsATG p.V469M Missense 7/19 - 2
1-175063209-A-G c.1408A>G p.I470V Missense 7/19 - 1
1-175063212-G-T c.1411G>T p.D471Y Missense 7/19 - 1
1-175063216-A-G c.1415A>G p.K472R Missense 7/19 - 1
1-175063221-G-A c.1420G>A p.V474I Missense 7/19 - 2
1-175063222-T-C c.1421T>C p.V474A Missense 7/19 - 2
1-175063227-C-G c.1426C>G p.R476G Missense 7/19 - 1
1-175063227-C-T c.1426C>T p.R476C Missense 7/19 - 7
1-175063228-G-A c.1427G>A p.R476H Missense 7/19 - 1
1-175063228-G-T c.1427G>T p.R476L Missense 7/19 - 1
1-175063231-A-G c.1430A>G p.Y477C Missense 7/19 - 1
1-175063236-TC-CT c.1435_1436delinsCT p.S479L Missense 7/19 - 1
1-175063237-C-T c.1436C>T p.S479F Missense 7/19 - 2
1-175063238-T-A c.1437T>A p.S479= Synonymous 7/19 - 1
1-175063238-T-C c.1437T>C p.S479= Synonymous 7/19 - 1
1-175063238-T-G c.1437T>G p.S479= Synonymous 7/19 - 1
1-175063241-T-A c.1440T>A p.A480= Synonymous 7/19 - 1
1-175063241-T-C c.1440T>C p.A480= Synonymous 7/19 - 1
1-175063241-T-G c.1440T>G p.A480= Synonymous 7/19 - 1
1-175063247-G-A c.1446G>A p.G482= Synonymous 7/19 - 1
1-175063248-G-A c.1447G>A p.D483N Missense 7/19 - 4
1-175063248-G-C c.1447G>C p.D483H Missense 7/19 - 1
1-175063248-G-T c.1447G>T p.D483Y Missense 7/19 - 1
1-175063253-C-T c.1452C>T p.T484= Synonymous 7/19 - 2
1-175063256-G-A c.1455G>A p.K485= Synonymous 7/19 - 2
1-175063257-G-A c.1456G>A p.E486K Missense 7/19 - 4
1-175063259-A-C c.1458A>C p.E486D Missense 7/19 - 1
1-175063259-A-T c.1458A>T p.E486D Missense 7/19 - 1
1-175063263-G-T c.1462G>T p.A488S Missense 7/19 - 1
1-175063271-C-T c.1470C>T p.H490= Synonymous 7/19 - 1
1-175063278-G-A c.1477G>A p.E493K Missense 7/19 - 2
1-175063278-G-T c.1477G>T p.E493* Nonsense 7/19 - 2
1-175063282-G-A c.1481G>A p.S494N Missense 7/19 - 1
1-175063284-AG-TT c.1483_1484delinsTT p.S495F Missense 7/19 - 1
1-175063285-G-A c.1484G>A p.S495N Missense 7/19 - 1
1-175063287-A-G c.1486A>G p.T496A Missense 7/19 - 1
1-175063290-G-A c.1489G>A p.V497I Missense 7/19 - 1
1-175063290-G-C c.1489G>C p.V497L Missense 7/19 - 2
1-175063292-C-A c.1491C>A p.V497= Synonymous 7/19 - 1
1-175063297-C-A c.1496C>A p.T499K Missense 7/19 - 1
1-175063297-C-T c.1496C>T p.T499M Missense 7/19 - 8
1-175063300-G-C c.1499G>C p.G500A Missense 7/19 - 1
1-175063300-G-T c.1499G>T p.G500V Missense 7/19 - 1
1-175063302-C-T c.1501C>T p.L501= Synonymous 7/19 - 1
1-175063304-G-A c.1503G>A p.L501= Synonymous 7/19 - 1
1-175063307-G-C c.1506G>C p.K502N Missense 7/19 - 1
1-175063310-A-C c.1509A>C p.P503= Synonymous 7/19 - 1
1-175063310-A-G c.1509A>G p.P503= Synonymous 7/19 - 1
1-175063310-A-T c.1509A>T p.P503= Synonymous 7/19 - 1
1-175063311-G-T c.1510G>T p.G504* Nonsense 7/19 - 1
1-175063312-G-A c.1511G>A p.G504E Missense 7/19 - 1
1-175063314-G-A c.1513G>A p.E505K Missense 7/19 - 2
1-175063316-G-A c.1515G>A p.E505= Synonymous 7/19 - 1
1-175063317-G-A c.1516G>A p.A506T Missense 7/19 - 1
1-175063320-T-G c.1519T>G p.Y507D Missense 7/19 - 1
1-175063322-C-T c.1521C>T p.Y507= Synonymous 7/19 - 1
1-175063325-G-A c.1524G>A p.K508= Synonymous 7/19 - 1
1-175063328-C-A c.1527C>A p.V509= Synonymous 7/19 - 2
1-175063328-C-G c.1527C>G p.V509= Synonymous 7/19 - 1
1-175063328-C-T c.1527C>T p.V509= Synonymous 7/19 - 1
1-175063329-T-C c.1528T>C p.Y510H Missense 7/19 - 1
1-175063331-C-A c.1530C>A p.Y510* Nonsense 7/19 - 1
1-175063332-G-A c.1531G>A p.V511M Missense 7/19 - 1
1-175063332-G-C c.1531G>C p.V511L Missense 7/19 - 1
1-175063332-G-T c.1531G>T p.V511L Missense 7/19 - 1
1-175063337-G-C c.1536G>C p.W512C Missense 7/19 - 2
1-175063337-G-T c.1536G>T p.W512C Missense 7/19 - 2
1-175063341-G-A c.1540G>A p.E514K Missense 7/19 - 3
1-175063345-G-A c.1544G>A p.R515K Missense 7/19 - 1
1-175063347-G-C c.1546G>C p.G516R Missense 7/19 - 1
1-175063348-GC-AG c.1547_1548delinsAG p.G516E Missense 7/19 - 1
1-175063351-A-G c.1550A>G p.N517S Missense 7/19 - 1
1-175063355-G-T c.1554G>T p.Q518H Missense 7/19 - 1
1-175063359-AG-GC c.1558_1559delinsGC p.S520A Missense 7/19 - 1
1-175063360-G-T c.1559G>T p.S520I Missense 7/19 - 1
1-175063363-A-C c.1562A>C p.K521T Missense 7/19 - 1
1-175063363-A-G c.1562A>G p.K521R Missense 7/19 - 1
1-175063364-G-C c.1563G>C p.K521N Missense 7/19 - 1
1-175063367-A-G c.1566A>G p.K522= Synonymous 7/19 - 1
1-175063368-G-A c.1567G>A p.A523T Missense 7/19 - 3
1-175063369-C-T c.1568C>T p.A523V Missense 7/19 - 4
1-175063371-G-C c.1570G>C p.D524H Missense 7/19 - 1
1-175063378-A-G c.1577A>G p.N526S Missense 7/19 - 1
1-175063379-T-C c.1578T>C p.N526= Synonymous 7/19 - 1
1-175063380-G-A c.1579G>A p.A527T Missense 7/19 - 1
1-175063386-A-G c.1585A>G p.T529A Missense 7/19 - 1
1-175063571-A-G c.1588+182A>G - IntronicSNV - 7/18 2
1-175066551-A-T c.1589-2A>T - IntronicSNV - 7/18 1
1-175066553-A-G c.1589A>G p.E530G Missense 8/19 - 4
1-175066555-A-C c.1591A>C p.I531L Missense 8/19 - 1
1-175066556-T-C c.1592T>C p.I531T Missense 8/19 - 1
1-175066559-A-G c.1595A>G p.D532G Missense 8/19 - 1
1-175066561-A-G c.1597A>G p.S533G Missense 8/19 - 1
1-175066562-G-A c.1598G>A p.S533N Missense 8/19 - 2
1-175066564-C-A c.1600C>A p.P534T Missense 8/19 - 1
1-175066575-G-T c.1611G>T p.L537= Synonymous 8/19 - 1
1-175066576-G-C c.1612G>C p.V538L Missense 8/19 - 3
1-175066576-G-T c.1612G>T p.V538L Missense 8/19 - 3
1-175066578-G-A c.1614G>A p.V538= Synonymous 8/19 - 2
1-175066582-G-A c.1618G>A p.D540N Missense 8/19 - 1
1-175066585-C-T c.1621C>T p.R541W Missense 8/19 - 1
1-175066586-G-A c.1622G>A p.R541Q Missense 8/19 - 1
1-175066586-G-T c.1622G>T p.R541L Missense 8/19 - 4
1-175066588-G-C c.1624G>C p.V542L Missense 8/19 - 1
1-175066588-G-T c.1624G>T p.V542L Missense 8/19 - 1
1-175066588-GTG-ATC c.1624_1626delinsATC p.V542I Missense 8/19 - 1
1-175066590-G-A c.1626G>A p.V542= Synonymous 8/19 - 3
1-175066594-G-C c.1630G>C p.E544Q Missense 8/19 - 1
1-175066600-A-T c.1636A>T p.T546S Missense 8/19 - 2
1-175066601-C-G c.1637C>G p.T546S Missense 8/19 - 3
1-175066601-C-T c.1637C>T p.T546I Missense 8/19 - 4
1-175066603-G-A c.1639G>A p.A547T Missense 8/19 - 2
1-175066603-G-T c.1639G>T p.A547S Missense 8/19 - 1
1-175066607-C-A c.1643C>A p.T548N Missense 8/19 - 1
1-175066607-C-T c.1643C>T p.T548I Missense 8/19 - 1
1-175066613-C-T c.1649C>T p.S550F Missense 8/19 - 5
1-175066614-C-A c.1650C>A p.S550= Synonymous 8/19 - 1
1-175066614-C-G c.1650C>G p.S550= Synonymous 8/19 - 1
1-175066614-C-T c.1650C>T p.S550= Synonymous 8/19 - 4
1-175066617-G-A c.1653G>A p.W551* Nonsense 8/19 - 2
1-175066621-C-A c.1657C>A p.P553T Missense 8/19 - 1
1-175066621-C-T c.1657C>T p.P553S Missense 8/19 - 1
1-175066622-C-A c.1658C>A p.P553Q Missense 8/19 - 2
1-175066623-G-A c.1659G>A p.P553= Synonymous 8/19 - 2
1-175066625-T-C c.1661T>C p.V554A Missense 8/19 - 2
1-175066626-A-C c.1662A>C p.V554= Synonymous 8/19 - 1
1-175066626-A-G c.1662A>G p.V554= Synonymous 8/19 - 1
1-175066626-A-T c.1662A>T p.V554= Synonymous 8/19 - 1
1-175066629-G-C c.1665G>C p.Q555H Missense 8/19 - 1
1-175066629-G-T c.1665G>T p.Q555H Missense 8/19 - 1
1-175066631-C-A c.1667C>A p.A556D Missense 8/19 - 1
1-175066633-A-G c.1669A>G p.T557A Missense 8/19 - 2
1-175066633-A-T c.1669A>T p.T557S Missense 8/19 - 1
1-175066634-C-G c.1670C>G p.T557S Missense 8/19 - 1
1-175066636-A-G c.1672A>G p.I558V Missense 8/19 - 1
1-175066637-T-C c.1673T>C p.I558T Missense 8/19 - 1
1-175066638-T-C c.1674T>C p.I558= Synonymous 8/19 - 1
1-175066639-G-A c.1675G>A p.D559N Missense 8/19 - 2
1-175066643-A-G c.1679A>G p.K560R Missense 8/19 - 1
1-175066645-T-C c.1681T>C p.Y561H Missense 8/19 - 1
1-175066647-C-T c.1683C>T p.Y561= Synonymous 8/19 - 2
1-175066648-G-A c.1684G>A p.V562M Missense 8/19 - 4
1-175066648-G-T c.1684G>T p.V562L Missense 8/19 - 1
1-175066651-GTG-ATC c.1687_1689delinsATC p.V563I Missense 8/19 - 1
1-175066652-T-C c.1688T>C p.V563A UnclassifiedSNV 8/19 - 3
1-175066653-G-A c.1689G>A p.V563= Synonymous 8/19 - 2
1-175066654-C-T c.1690C>T p.R564C Missense 8/19 - 3
1-175066658-A-G c.1694A>G p.Y565C Missense 8/19 - 2
1-175066660-A-G c.1696A>G p.T566A Missense 8/19 - 1
1-175066662-C-A c.1698C>A p.T566= Synonymous 8/19 - 1
1-175066662-C-G c.1698C>G p.T566= Synonymous 8/19 - 1
1-175066662-C-T c.1698C>T p.T566= Synonymous 8/19 - 2
1-175066664-C-G c.1700C>G p.S567C Missense 8/19 - 2
1-175066665-T-A c.1701T>A p.S567= Synonymous 8/19 - 1
1-175066665-T-C c.1701T>C p.S567= Synonymous 8/19 - 1
1-175066665-T-G c.1701T>G p.S567= Synonymous 8/19 - 1
1-175066667-C-G c.1703C>G p.A568G Missense 8/19 - 1
1-175066669-G-T c.1705G>T p.D569Y Missense 8/19 - 1
1-175066670-A-G c.1706A>G p.D569G Missense 8/19 - 1
1-175066671-C-T c.1707C>T p.D569= Synonymous 8/19 - 2
1-175066672-G-A c.1708G>A p.D570N Missense 8/19 - 3
1-175066678-G-A c.1714G>A p.E572K Missense 8/19 - 1
1-175066681-A-G c.1717A>G p.T573A Missense 8/19 - 1
1-175066685-G-C c.1721G>C p.R574T UnclassifiedSNV 8/19 - 3
1-175066687-G-A c.1723G>A p.E575K Missense 8/19 - 2
1-175066687-G-T c.1723G>T p.E575* Nonsense 8/19 - 1
1-175066688-A-T c.1724A>T p.E575V Missense 8/19 - 1
1-175066693-C-T c.1729C>T p.L577= Synonymous 8/19 - 3
1-175066694-T-C c.1730T>C p.L577P Missense 8/19 - 1
1-175066695-G-A c.1731G>A p.L577= Synonymous 8/19 - 1
1-175066695-G-C c.1731G>C p.L577= Synonymous 8/19 - 1
1-175066695-G-T c.1731G>T p.L577= Synonymous 8/19 - 1
1-175066696-GTG-ATC c.1732_1734delinsATC p.V578I Missense 8/19 - 1
1-175066698-G-A c.1734G>A p.V578= Synonymous 8/19 - 1
1-175066699-G-A c.1735G>A p.G579R Missense 8/19 - 5
1-175066700-G-T c.1736G>T p.G579V Missense 8/19 - 1
1-175066702-A-G c.1738A>G p.K580E Missense 8/19 - 1
1-175066705-G-A c.1741G>A p.E581K Missense 8/19 - 1
1-175066705-G-T c.1741G>T p.E581* Nonsense 8/19 - 1
1-175066708-C-A c.1744C>A p.Q582K Missense 8/19 - 1
1-175066708-C-T c.1744C>T p.Q582* Nonsense 8/19 - 3
1-175066711-A-G c.1747A>G p.S583G Missense 8/19 - 1
1-175066713-C-T c.1749C>T p.S583= Synonymous 8/19 - 1
1-175066719-T-A c.1755T>A p.T585= Synonymous 8/19 - 1
1-175066719-T-C c.1755T>C p.T585= Synonymous 8/19 - 1
1-175066720-G-A c.1756G>A p.V586I Missense 8/19 - 1
1-175066722-C-A c.1758C>A p.V586= Synonymous 8/19 - 1
1-175066722-C-G c.1758C>G p.V586= Synonymous 8/19 - 1
1-175066722-C-T c.1758C>T p.V586= Synonymous 8/19 - 1
1-175066723-C-T c.1759C>T p.L587= Synonymous 8/19 - 1
1-175066727-C-A c.1763C>A p.T588K Missense 8/19 - 1
1-175066728-A-C c.1764A>C p.T588= Synonymous 8/19 - 1
1-175066728-A-G c.1764A>G p.T588= Synonymous 8/19 - 1
1-175066728-A-T c.1764A>T p.T588= Synonymous 8/19 - 1
1-175066730-G-A c.1766G>A p.G589D Missense 8/19 - 1
1-175066734-G-T c.1770G>T p.L590= Synonymous 8/19 - 1
1-175066736-G-A c.1772G>A p.R591K Missense 8/19 - 1
1-175066738-C-T c.1774C>T p.P592S Missense 8/19 - 1
1-175066741-G-A c.1777G>A p.G593S Missense 8/19 - 1
1-175066746-G-A c.1782G>A p.V594= Synonymous 8/19 - 1
1-175066746-G-C c.1782G>C p.V594= Synonymous 8/19 - 1
1-175066746-G-T c.1782G>T p.V594= Synonymous 8/19 - 1
1-175066751-A-G c.1787A>G p.Y596C Missense 8/19 - 1
1-175066752-C-T c.1788C>T p.Y596= Synonymous 8/19 - 2
1-175066754-C-T c.1790C>T p.T597I Missense 8/19 - 1
1-175066755-A-G c.1791A>G p.T597= Synonymous 8/19 - 1
1-175066757-T-G c.1793T>G p.V598G Missense 8/19 - 1
1-175066758-G-A c.1794G>A p.V598= Synonymous 8/19 - 1
1-175066758-G-C c.1794G>C p.V598= Synonymous 8/19 - 1
1-175066758-G-T c.1794G>T p.V598= Synonymous 8/19 - 1
1-175066759-C-T c.1795C>T p.H599Y Missense 8/19 - 2
1-175066763-TC-AG c.1799_1800delinsAG p.V600E Missense 8/19 - 2
1-175066764-C-A c.1800C>A p.V600= Synonymous 8/19 - 1
1-175066766-G-A c.1802G>A p.W601* Nonsense 8/19 - 1
1-175066767-G-A c.1803G>A p.W601* Nonsense 8/19 - 1
1-175066768-G-T c.1804G>T p.A602S Missense 8/19 - 1
1-175066769-C-A c.1805C>A p.A602D Missense 8/19 - 1
1-175066771-C-A c.1807C>A p.Q603K Missense 8/19 - 4
1-175066771-C-T c.1807C>T p.Q603* Nonsense 8/19 - 2
1-175066773-G-A c.1809G>A p.Q603= Synonymous 8/19 - 3
1-175066773-G-C c.1809G>C p.Q603H Missense 8/19 - 1
1-175066773-G-T c.1809G>T p.Q603H Missense 8/19 - 1
1-175066776-G-A c.1812G>A p.K604= Synonymous 8/19 - 1
1-175066776-G-C c.1812G>C p.K604N Missense 8/19 - 2
1-175066776-G-T c.1812G>T p.K604N Missense 8/19 - 2
1-175066777-G-A c.1813G>A p.G605R Missense 8/19 - 1
1-175066777-G-T c.1813G>T p.G605W Missense 8/19 - 1
1-175066775-AG-A c.1816del p.D606Tfs*22 Frameshift 8/19 - 1
1-175066781-A-G c.1817A>G p.D606G Missense 8/19 - 1
1-175066782-C-T c.1818C>T p.D606= Synonymous 8/19 - 1
1-175066783-C-G c.1819C>G p.R607G Missense 8/19 - 1
1-175066783-C-T c.1819C>T p.R607* Nonsense 8/19 - 2
1-175066784-G-A c.1820G>A p.R607Q Missense 8/19 - 1
1-175066792-A-G c.1828A>G p.K610E Missense 8/19 - 1
1-175066793-A-C c.1829A>C p.K610T Missense 8/19 - 1
1-175066794-G-GT c.1830_1831insT p.K611* Nonsense 8/19 - 1
1-175066797-G-C c.1833G>C p.K611N Missense 8/19 - 1
1-175066797-G-T c.1833G>T p.K611N Missense 8/19 - 1
1-175066798-G-A c.1834G>A p.A612T Missense 8/19 - 5
1-175066799-C-T c.1835C>T p.A612V Missense 8/19 - 1
1-175066800-T-A c.1836T>A p.A612= Synonymous 8/19 - 2
1-175066800-T-C c.1836T>C p.A612= Synonymous 8/19 - 3
1-175066800-T-G c.1836T>G p.A612= Synonymous 8/19 - 2
1-175066805-C-T c.1841C>T p.T614I Missense 8/19 - 3
1-175066808-A-G c.1844A>G p.N615S Missense 8/19 - 1
1-175066809-C-G c.1845C>G p.N615K Missense 8/19 - 1
1-175066809-C-T c.1845C>T p.N615= Synonymous 8/19 - 4
1-175066810-G-A c.1846G>A p.A616T Missense 8/19 - 1
1-175066810-G-T c.1846G>T p.A616S Missense 8/19 - 3
1-175066814-C-T c.1850C>T p.P617L Missense 8/19 - 3
1-175066815-G-A c.1851G>A p.P617= Synonymous 8/19 - 1
1-175066817-C-G c.1853C>G p.T618R Missense 8/19 - 1
1-175066818-A-C c.1854A>C p.T618= Synonymous 8/19 - 1
1-175066842-T-C c.1855+23T>C - IntronicSNV - 8/18 1
1-175067471-T-G c.1859T>G p.I620S Missense 9/19 - 4
1-175067472-T-A c.1860T>A p.I620= Synonymous 9/19 - 2
1-175067472-T-C c.1860T>C p.I620= Synonymous 9/19 - 2
1-175067473-G-C c.1861G>C p.D621H Missense 9/19 - 2
1-175067474-A-G c.1862A>G p.D621G Missense 9/19 - 4
1-175067474-A-T c.1862A>T p.D621V Missense 9/19 - 1
1-175067479-C-G c.1867C>G p.P623A Missense 9/19 - 1
1-175067480-C-G c.1868C>G p.P623R Missense 9/19 - 1
1-175067482-A-G c.1870A>G p.K624E Missense 9/19 - 1
1-175067485-A-G c.1873A>G p.N625D Missense 9/19 - 1
1-175067487-C-T c.1875C>T p.N625= Synonymous 9/19 - 2
1-175067489-T-C c.1877T>C p.L626P Missense 9/19 - 1
1-175067491-G-C c.1879G>C p.V627L Missense 9/19 - 1
1-175067491-G-T c.1879G>T p.V627L Missense 9/19 - 1
1-175067493-G-A c.1881G>A p.V627= Synonymous 9/19 - 2
1-175067493-G-C c.1881G>C p.V627= Synonymous 9/19 - 1
1-175067493-G-T c.1881G>T p.V627= Synonymous 9/19 - 1
1-175067495-C-A c.1883C>A p.T628N Missense 9/19 - 1
1-175067495-C-T c.1883C>T p.T628I Missense 9/19 - 1
1-175067497-G-A c.1885G>A p.D629N Missense 9/19 - 1
1-175067497-G-C c.1885G>C p.D629H Missense 9/19 - 1
1-175067497-G-T c.1885G>T p.D629Y Missense 9/19 - 1
1-175067500-C-A c.1888C>A p.R630= Synonymous 9/19 - 2
1-175067500-C-G c.1888C>G p.R630G Missense 9/19 - 1
1-175067502-G-A c.1890G>A p.R630= Synonymous 9/19 - 2
1-175067502-G-C c.1890G>C p.R630= Synonymous 9/19 - 2
1-175067502-G-T c.1890G>T p.R630= Synonymous 9/19 - 3
1-175067501-G-A c.1889G>A p.R630Q Missense 9/19 - 1
1-175067501-G-T c.1889G>T p.R630L Missense 9/19 - 2
1-175067503-G-C c.1891G>C p.V631L Missense 9/19 - 1
1-175067503-G-T c.1891G>T p.V631L Missense 9/19 - 2
1-175067506-A-G c.1894A>G p.T632A Missense 9/19 - 1
1-175067507-C-T c.1895C>T p.T632I Missense 9/19 - 1
1-175067510-A-C c.1898A>C p.E633A Missense 9/19 - 2
1-175067511-G-C c.1899G>C p.E633D Missense 9/19 - 2
1-175067511-G-T c.1899G>T p.E633D Missense 9/19 - 1
1-175067517-G-C c.1905G>C p.M635I Missense 9/19 - 1
1-175067519-C-A c.1907C>A p.A636D Missense 9/19 - 1
1-175067521-A-C c.1909A>C p.T637P Missense 9/19 - 1
1-175067522-C-T c.1910C>T p.T637M Missense 9/19 - 6
1-175067523-G-A c.1911G>A p.T637= Synonymous 9/19 - 3
1-175067523-G-C c.1911G>C p.T637= Synonymous 9/19 - 2
1-175067523-G-T c.1911G>T p.T637= Synonymous 9/19 - 2
1-175067525-T-C c.1913T>C p.V638A Missense 9/19 - 1
1-175067528-C-T c.1916C>T p.S639F Missense 9/19 - 2
1-175067533-G-T c.1921G>T p.D641Y Missense 9/19 - 2
1-175067535-C-A c.1923C>A p.D641E Missense 9/19 - 4
1-175067535-C-G c.1923C>G p.D641E Missense 9/19 - 2
1-175067535-C-T c.1923C>T p.D641= Synonymous 9/19 - 4
1-175067537-C-A c.1925C>A p.P642Q Missense 9/19 - 4
1-175067537-C-G c.1925C>G p.P642R Missense 9/19 - 2
1-175067537-C-T c.1925C>T p.P642L Missense 9/19 - 4
1-175067538-G-A c.1926G>A p.P642= Synonymous 9/19 - 1
1-175067538-G-C c.1926G>C p.P642= Synonymous 9/19 - 1
1-175067538-G-T c.1926G>T p.P642= Synonymous 9/19 - 1
1-175067540-T-C c.1928T>C p.V643A Missense 9/19 - 2
1-175067540-TG-CA c.1928_1929inv p.V643A Missense 9/19 - 1
1-175067542-C-A c.1930C>A p.Q644K Missense 9/19 - 1
1-175067542-C-G c.1930C>G p.Q644E Missense 9/19 - 1
1-175067543-A-G c.1931A>G p.Q644R Missense 9/19 - 2
1-175067543-A-T c.1931A>T p.Q644L Missense 9/19 - 1
1-175067544-G-C c.1932G>C p.Q644H Missense 9/19 - 1
1-175067544-G-T c.1932G>T p.Q644H Missense 9/19 - 1
1-175067545-G-A c.1933G>A p.A645T Missense 9/19 - 1
1-175067546-C-T c.1934C>T p.A645V Missense 9/19 - 1
1-175067547-C-A c.1935C>A p.A645= Synonymous 9/19 - 1
1-175067547-C-G c.1935C>G p.A645= Synonymous 9/19 - 1
1-175067547-C-T c.1935C>T p.A645= Synonymous 9/19 - 1
1-175067548-G-A c.1936G>A p.A646T Missense 9/19 - 9
1-175067548-G-T c.1936G>T p.A646S Missense 9/19 - 2
1-175067549-C-A c.1937C>A p.A646D Missense 9/19 - 1
1-175067551-A-T c.1939A>T p.I647F Missense 9/19 - 1
1-175067555-A-C c.1943A>C p.D648A Missense 9/19 - 1
1-175067558-A-G c.1946A>G p.K649R Missense 9/19 - 1
1-175067562-C-T c.1950C>T p.Y650= Synonymous 9/19 - 4
1-175067563-G-A c.1951G>A p.V651M Missense 9/19 - 4
1-175067563-G-C c.1951G>C p.V651L Missense 9/19 - 1
1-175067563-G-T c.1951G>T p.V651L Missense 9/19 - 1
1-175067565-G-A c.1953G>A p.V651= Synonymous 9/19 - 1
1-175067565-G-C c.1953G>C p.V651= Synonymous 9/19 - 1
1-175067565-G-T c.1953G>T p.V651= Synonymous 9/19 - 1
1-175067566-G-A c.1954G>A p.V652M Missense 9/19 - 2
1-175067568-G-A c.1956G>A p.V652= Synonymous 9/19 - 2
1-175067569-C-A c.1957C>A p.R653S Missense 9/19 - 2
1-175067569-C-T c.1957C>T p.R653C Missense 9/19 - 3
1-175067570-G-A c.1958G>A p.R653H Missense 9/19 - 4
1-175067570-G-C c.1958G>C p.R653P Missense 9/19 - 1
1-175067571-C-A c.1959C>A p.R653= Synonymous 9/19 - 2
1-175067571-C-G c.1959C>G p.R653= Synonymous 9/19 - 2
1-175067571-C-T c.1959C>T p.R653= Synonymous 9/19 - 3
1-175067573-A-T c.1961A>T p.Y654F Missense 9/19 - 1
1-175067574-C-A c.1962C>A p.Y654* Nonsense 9/19 - 1
1-175067575-A-G c.1963A>G p.T655A Missense 9/19 - 1
1-175067579-C-G c.1967C>G p.S656C Missense 9/19 - 1
1-175067580-T-A c.1968T>A p.S656= Synonymous 9/19 - 1
1-175067580-T-C c.1968T>C p.S656= Synonymous 9/19 - 5
1-175067580-T-G c.1968T>G p.S656= Synonymous 9/19 - 2
1-175067581-G-C c.1969G>C p.A657P Missense 9/19 - 1
1-175067585-G-A c.1973G>A p.G658D Missense 9/19 - 2
1-175067588-G-T c.1976G>T p.G659V Missense 9/19 - 1
1-175067589-A-G c.1977A>G p.G659= Synonymous 9/19 - 1
1-175067590-G-A c.1978G>A p.E660K Missense 9/19 - 2
1-175067595-C-T c.1983C>T p.T661= Synonymous 9/19 - 1
1-175067596-A-C c.1984A>C p.R662= Synonymous 9/19 - 1
1-175067596-A-T c.1984A>T p.R662W Missense 9/19 - 1
1-175067597-G-A c.1985G>A p.R662K Missense 9/19 - 2
1-175067597-G-T c.1985G>T p.R662M Missense 9/19 - 1
1-175067599-G-A c.1987G>A p.E663K Missense 9/19 - 7
1-175067600-A-G c.1988A>G p.E663G Missense 9/19 - 1
1-175067601-G-T c.1989G>T p.E663D Missense 9/19 - 1
1-175067605-C-A c.1993C>A p.P665T Missense 9/19 - 1
1-175067606-C-T c.1994C>T p.P665L Missense 9/19 - 6
1-175067607-G-A c.1995G>A p.P665= Synonymous 9/19 - 1
1-175067607-G-C c.1995G>C p.P665= Synonymous 9/19 - 1
1-175067607-G-T c.1995G>T p.P665= Synonymous 9/19 - 1
1-175067608-G-C c.1996G>C p.V666L Missense 9/19 - 1
1-175067608-G-T c.1996G>T p.V666L Missense 9/19 - 3
1-175067610-GG-TT c.1998_1999delinsTT p.G667W Missense 9/19 - 1
1-175067610-G-T c.1998G>T p.V666= Synonymous 9/19 - 1
1-175067611-G-T c.1999G>T p.G667W Missense 9/19 - 2
1-175067612-G-A c.2000G>A p.G667E Missense 9/19 - 5
1-175067617-G-A c.2005G>A p.E669K Missense 9/19 - 4
1-175067617-G-T c.2005G>T p.E669* Nonsense 9/19 - 1
1-175067618-A-T c.2006A>T p.E669V Missense 9/19 - 2
1-175067619-G-A c.2007G>A p.E669= Synonymous 9/19 - 1
1-175067620-C-T c.2008C>T p.Q670* Nonsense 9/19 - 1
1-175067622-G-C c.2010G>C p.Q670H Missense 9/19 - 1
1-175067622-G-T c.2010G>T p.Q670H Missense 9/19 - 1
1-175067623-A-G c.2011A>G p.S671G Missense 9/19 - 4
1-175067624-G-C c.2012G>C p.S671T Missense 9/19 - 1
1-175067625-C-T c.2013C>T p.S671= Synonymous 9/19 - 1
1-175067628-C-T c.2016C>T p.S672= Synonymous 9/19 - 1
1-175067630-C-G c.2018C>G p.T673R Missense 9/19 - 2
1-175067632-G-A c.2020G>A p.V674I Missense 9/19 - 2
1-175067634-C-A c.2022C>A p.V674= Synonymous 9/19 - 1
1-175067634-C-G c.2022C>G p.V674= Synonymous 9/19 - 1
1-175067634-C-T c.2022C>T p.V674= Synonymous 9/19 - 1
1-175067636-T-C c.2024T>C p.L675P Missense 9/19 - 2
1-175067635-C-T c.2023C>T p.L675= Synonymous 9/19 - 1
1-175067637-G-A c.2025G>A p.L675= Synonymous 9/19 - 1
1-175067637-G-C c.2025G>C p.L675= Synonymous 9/19 - 1
1-175067637-G-T c.2025G>T p.L675= Synonymous 9/19 - 1
1-175067638-A-G c.2026A>G p.T676A Missense 9/19 - 2
1-175067639-C-T c.2027C>T p.T676I Missense 9/19 - 1
1-175067641-G-A c.2029G>A p.G677S Missense 9/19 - 3
1-175067644-C-T c.2032C>T p.L678= Synonymous 9/19 - 5
1-175067646-G-A c.2034G>A p.L678= Synonymous 9/19 - 2
1-175067646-G-C c.2034G>C p.L678= Synonymous 9/19 - 3
1-175067646-G-T c.2034G>T p.L678= Synonymous 9/19 - 2
1-175067647-AG-CT c.2035_2036inv p.R679L Missense 9/19 - 1
1-175067650-C-T c.2038C>T p.P680S Missense 9/19 - 2
1-175067651-C-A c.2039C>A p.P680Q Missense 9/19 - 5
1-175067651-C-T c.2039C>T p.P680L Missense 9/19 - 1
1-175067652-G-A c.2040G>A p.P680= Synonymous 9/19 - 2
1-175067653-G-A c.2041G>A p.G681S Missense 9/19 - 4
1-175067656-A-G c.2044A>G p.M682V Missense 9/19 - 3
1-175067659-G-A c.2047G>A p.E683K Missense 9/19 - 2
1-175067659-G-C c.2047G>C p.E683Q Missense 9/19 - 1
1-175067659-G-T c.2047G>T p.E683* Nonsense 9/19 - 2
1-175067667-G-A c.2055G>A p.M685I Missense 9/19 - 1
1-175067667-G-C c.2055G>C p.M685I Missense 9/19 - 1
1-175067667-G-T c.2055G>T p.M685I Missense 9/19 - 1
1-175067671-C-T c.2059C>T p.H687Y Missense 9/19 - 2
1-175067673-C-A c.2061C>A p.H687Q Missense 9/19 - 3
1-175067673-C-G c.2061C>G p.H687Q Missense 9/19 - 3
1-175067674-G-A c.2062G>A p.V688M Missense 9/19 - 2
1-175067674-G-C c.2062G>C p.V688L Missense 9/19 - 2
1-175067674-G-T c.2062G>T p.V688L Missense 9/19 - 5
1-175067675-T-C c.2063T>C p.V688A Missense 9/19 - 2
1-175067680-G-A c.2068G>A p.A690T UnclassifiedSNV 9/19 - 3
1-175067680-G-T c.2068G>T p.A690S Missense 9/19 - 1
1-175067683-C-A c.2071C>A p.Q691K Missense 9/19 - 3
1-175067683-C-T c.2071C>T p.Q691* Nonsense 9/19 - 2
1-175067685-G-A c.2073G>A p.Q691= Synonymous 9/19 - 1
1-175067685-G-C c.2073G>C p.Q691H Missense 9/19 - 2
1-175067685-G-T c.2073G>T p.Q691H Missense 9/19 - 1
1-175067686-A-G c.2074A>G p.K692E Missense 9/19 - 1
1-175067689-G-A c.2077G>A p.G693R Missense 9/19 - 4
1-175067689-G-C c.2077G>C p.G693R Missense 9/19 - 2
1-175067690-G-C c.2078G>C p.G693A Missense 9/19 - 1
1-175067692-G-A c.2080G>A p.D694N Missense 9/19 - 2
1-175067693-A-G c.2081A>G p.D694G Missense 9/19 - 2
1-175067694-C-T c.2082C>T p.D694= Synonymous 9/19 - 1
1-175067695-CA-GC c.2083_2084delinsGC p.Q695A Missense 9/19 - 1
1-175067695-C-T c.2083C>T p.Q695* Nonsense 9/19 - 2
1-175067697-G-A c.2085G>A p.Q695= Synonymous 9/19 - 1
1-175067698-G-A c.2086G>A p.E696K Missense 9/19 - 5
1-175067702-G-A c.2090G>A p.S697N Missense 9/19 - 2
1-175067705-A-C c.2093A>C p.K698T Missense 9/19 - 3
1-175067705-A-G c.2093A>G p.K698R Missense 9/19 - 1
1-175067706-G-A c.2094G>A p.K698= Synonymous 9/19 - 1
1-175067706-G-T c.2094G>T p.K698N Missense 9/19 - 2
1-175067708-A-C c.2096A>C p.K699T Missense 9/19 - 1
1-175067710-G-A c.2098G>A p.A700T Missense 9/19 - 1
1-175067711-C-T c.2099C>T p.A700V Missense 9/19 - 2
1-175067712-C-A c.2100C>A p.A700= Synonymous 9/19 - 6
1-175067712-C-G c.2100C>G p.A700= Synonymous 9/19 - 4
1-175067712-C-T c.2100C>T p.A700= Synonymous 9/19 - 8
1-175067713-G-A c.2101G>A p.D701N Missense 9/19 - 1
1-175067721-G-A c.2109G>A p.K703= Synonymous 9/19 - 1
1-175067721-G-C c.2109G>C p.K703N Missense 9/19 - 2
1-175067721-G-T c.2109G>T p.K703N Missense 9/19 - 3
1-175067722-G-T c.2110G>T p.A704S Missense 9/19 - 2
1-175067723-C-T c.2111C>T p.A704V Missense 9/19 - 1
1-175067724-C-T c.2112C>T p.A704= Synonymous 9/19 - 1
1-175067728-A-G c.2116A>G p.T706A Missense 9/19 - 1
1-175067731-G-A c.2119G>A p.D707N Missense 9/19 - 2
1-175067731-G-T c.2119G>T p.D707Y Missense 9/19 - 1
1-175067732-G-T c.2119+1G>T - IntronicSNV - 9/18 1
1-175068011-T-A c.2119+280T>A - IntronicSNV - 9/18 1
1-175068016-G-A c.2119+285G>A - IntronicSNV - 9/18 1
1-175071568-C-T c.2119+3837C>T - IntronicSNV - 9/18 1
1-175071798-T-C c.2119+4067T>C - IntronicSNV - 9/18 1
1-175072292-G-A c.2119+4561G>A - IntronicSNV - 9/18 1
1-175075669-T-C c.2119+7938T>C - IntronicSNV - 9/18 1
1-175076463-G-A c.2119+8732G>A - IntronicSNV - 9/18 1
1-175076463-G-C c.2119+8732G>C - IntronicSNV - 9/18 1
1-175077533-G-A c.2120-8542G>A - IntronicSNV - 9/18 3
1-175077533-G-C c.2120-8542G>C - IntronicSNV - 9/18 3
1-175086077-A-G c.2122A>G p.I708V Missense 10/19 - 1
1-175086082-C-A c.2127C>A p.D709E Missense 10/19 - 1
1-175086083-A-C c.2128A>C p.S710R Missense 10/19 - 2
1-175086085-C-A c.2130C>A p.S710R Missense 10/19 - 2
1-175086085-C-G c.2130C>G p.S710R Missense 10/19 - 3
1-175086087-C-T c.2132C>T p.P711L Missense 10/19 - 2
1-175086089-C-T c.2134C>T p.Q712* Nonsense 10/19 - 3
1-175086090-A-G c.2135A>G p.Q712R Missense 10/19 - 1
1-175086091-A-G c.2136A>G p.Q712= Synonymous 10/19 - 1
1-175086089-CA-C c.2138del p.N713Tfs*3 Frameshift 10/19 - 1
1-175086100-G-C c.2145G>C p.V715= Synonymous 10/19 - 2
1-175086102-C-T c.2147C>T p.T716I Missense 10/19 - 4
1-175086104-G-A c.2149G>A p.D717N Missense 10/19 - 4
1-175086104-G-T c.2149G>T p.D717Y Missense 10/19 - 3
1-175086107-CGG-TGT c.2152_2154delinsTGT p.R718C Missense 10/19 - 1
1-175086107-C-T c.2152C>T p.R718W Missense 10/19 - 4
1-175086108-G-T c.2153G>T p.R718L Missense 10/19 - 1
1-175086110-G-A c.2155G>A p.V719M Missense 10/19 - 1
1-175086110-G-C c.2155G>C p.V719L Missense 10/19 - 4
1-175086110-G-T c.2155G>T p.V719L Missense 10/19 - 3
1-175086112-G-A c.2157G>A p.V719= Synonymous 10/19 - 4
1-175086112-G-C c.2157G>C p.V719= Synonymous 10/19 - 3
1-175086112-G-T c.2157G>T p.V719= Synonymous 10/19 - 3
1-175086113-A-G c.2158A>G p.T720A Missense 10/19 - 1
1-175086118-G-A c.2163G>A p.E721= Synonymous 10/19 - 1
1-175086124-G-A c.2169G>A p.M723I Missense 10/19 - 2
1-175086125-G-A c.2170G>A p.A724T Missense 10/19 - 1
1-175086125-G-T c.2170G>T p.A724S Missense 10/19 - 3
1-175086128-A-T c.2173A>T p.T725S Missense 10/19 - 1
1-175086131-G-A c.2176G>A p.V726I Missense 10/19 - 1
1-175086132-T-A c.2177T>A p.V726D Missense 10/19 - 2
1-175086135-C-T c.2180C>T p.S727F Missense 10/19 - 7
1-175086136-C-T c.2181C>T p.S727= Synonymous 10/19 - 1
1-175086138-G-A c.2183G>A p.W728* Nonsense 10/19 - 1
1-175086139-G-A c.2184G>A p.W728* Nonsense 10/19 - 1
1-175086140-G-T c.2185G>T p.D729Y Missense 10/19 - 1
1-175086142-C-T c.2187C>T p.D729= Synonymous 10/19 - 1
1-175086146-G-A c.2191G>A p.V731M Missense 10/19 - 1
1-175086149-C-A c.2194C>A p.R732= Synonymous 10/19 - 1
1-175086149-CG-GC c.2194_2195delinsGC p.R732A Missense 10/19 - 1
1-175086149-C-T c.2194C>T p.R732W Missense 10/19 - 4
1-175086150-G-A c.2195G>A p.R732Q Missense 10/19 - 1
1-175086153-C-A c.2198C>A p.A733D Missense 10/19 - 3
1-175086153-C-G c.2198C>G p.A733G Missense 10/19 - 1
1-175086153-C-T c.2198C>T p.A733V Missense 10/19 - 1
1-175086155-A-G c.2200A>G p.T734A Missense 10/19 - 1
1-175086156-C-T c.2201C>T p.T734I Missense 10/19 - 2
1-175086158-A-G c.2203A>G p.I735V Missense 10/19 - 1
1-175086161-G-A c.2206G>A p.D736N Missense 10/19 - 3
1-175086161-G-T c.2206G>T p.D736Y Missense 10/19 - 1
1-175086162-A-G c.2207A>G p.D736G Missense 10/19 - 1
1-175086168-A-G c.2213A>G p.Y738C Missense 10/19 - 3
1-175086172-G-T c.2217G>T p.V739= Synonymous 10/19 - 1
1-175086173-G-A c.2218G>A p.V740M Missense 10/19 - 1
1-175086175-G-A c.2220G>A p.V740= Synonymous 10/19 - 1
1-175086176-C-T c.2221C>T p.R741C Missense 10/19 - 6
1-175086177-G-A c.2222G>A p.R741H Missense 10/19 - 3
1-175086177-GC-A c.2222_2223delinsA p.R741Hfs*24 Frameshift 10/19 - 1
1-175086184-C-T c.2229C>T p.T743= Synonymous 10/19 - 3
1-175086185-T-A c.2230T>A p.S744T Missense 10/19 - 1
1-175086186-C-T c.2231C>T p.S744F Missense 10/19 - 2
1-175086188-G-A c.2233G>A p.A745T Missense 10/19 - 1
1-175086189-C-A c.2234C>A p.A745D Missense 10/19 - 1
1-175086194-G-A c.2239G>A p.D747N Missense 10/19 - 5
1-175086196-C-T c.2241C>T p.D747= Synonymous 10/19 - 3
1-175086197-G-T c.2242G>T p.G748* Nonsense 10/19 - 1
1-175086198-G-A c.2243G>A p.G748E Missense 10/19 - 1
1-175086202-G-A c.2247G>A p.E749= Synonymous 10/19 - 1
1-175086204-C-T c.2249C>T p.T750I Missense 10/19 - 1
1-175086207-G-C c.2252G>C p.R751T Missense 10/19 - 1
1-175086212-G-T c.2257G>T p.V753F Missense 10/19 - 2
1-175086215-C-T c.2260C>T p.P754S Missense 10/19 - 2
1-175086216-C-T c.2261C>T p.P754L Missense 10/19 - 4
1-175086217-G-A c.2262G>A p.P754= Synonymous 10/19 - 2
1-175086219-T-C c.2264T>C p.V755A Missense 10/19 - 1
1-175086222-G-A c.2267G>A p.G756E Missense 10/19 - 4
1-175086222-G-C c.2267G>C p.G756A Missense 10/19 - 2
1-175086223-G-A c.2268G>A p.G756= Synonymous 10/19 - 3
1-175086226-G-C c.2271G>C p.K757N Missense 10/19 - 1
1-175086226-G-T c.2271G>T p.K757N Missense 10/19 - 1
1-175086230-C-A c.2275C>A p.Q759K Missense 10/19 - 1
1-175086232-G-A c.2277G>A p.Q759= Synonymous 10/19 - 4
1-175086232-G-C c.2277G>C p.Q759H Missense 10/19 - 1
1-175086232-G-T c.2277G>T p.Q759H Missense 10/19 - 1
1-175086235-T-C c.2280T>C p.S760= Synonymous 10/19 - 2
1-175086236-A-C c.2281A>C p.S761R Missense 10/19 - 1
1-175086238-C-A c.2283C>A p.S761R Missense 10/19 - 1
1-175086238-C-G c.2283C>G p.S761R Missense 10/19 - 1
1-175086242-G-A c.2287G>A p.V763I Missense 10/19 - 1
1-175086244-C-A c.2289C>A p.V763= Synonymous 10/19 - 1
1-175086244-C-G c.2289C>G p.V763= Synonymous 10/19 - 1
1-175086244-C-T c.2289C>T p.V763= Synonymous 10/19 - 3
1-175086245-C-T c.2290C>T p.L764= Synonymous 10/19 - 3
1-175086246-T-G c.2291T>G p.L764R Missense 10/19 - 1
1-175086247-G-A c.2292G>A p.L764= Synonymous 10/19 - 2
1-175086247-G-C c.2292G>C p.L764= Synonymous 10/19 - 1
1-175086247-G-T c.2292G>T p.L764= Synonymous 10/19 - 1
1-175086249-C-A c.2294C>A p.T765K Missense 10/19 - 1
1-175086249-C-T c.2294C>T p.T765M Missense 10/19 - 3
1-175086250-G-A c.2295G>A p.T765= Synonymous 10/19 - 2
1-175086250-G-C c.2295G>C p.T765= Synonymous 10/19 - 1
1-175086250-G-T c.2295G>T p.T765= Synonymous 10/19 - 1
1-175086251-G-A c.2296G>A p.G766S Missense 10/19 - 1
1-175086251-G-C c.2296G>C p.G766R Missense 10/19 - 1
1-175086252-GC-G c.2299del p.L767* Frameshift 10/19 - 1
1-175086254-CTG-TTT c.2299_2301delinsTTT p.L767F Missense 10/19 - 1
1-175086254-C-T c.2299C>T p.L767= Synonymous 10/19 - 2
1-175086256-G-A c.2301G>A p.L767= Synonymous 10/19 - 2
1-175086256-G-C c.2301G>C p.L767= Synonymous 10/19 - 3
1-175086256-G-T c.2301G>T p.L767= Synonymous 10/19 - 4
1-175086257-A-G c.2302A>G p.R768G Missense 10/19 - 1
1-175086258-G-T c.2303G>T p.R768M Missense 10/19 - 1
1-175086259-G-A c.2304G>A p.R768= Synonymous 10/19 - 1
1-175086261-C-G c.2306C>G p.P769R Missense 10/19 - 3
1-175086261-C-T c.2306C>T p.P769L Missense 10/19 - 2
1-175086262-G-A c.2307G>A p.P769= Synonymous 10/19 - 1
1-175086264-G-A c.2309G>A p.G770D Missense 10/19 - 3
1-175086266-G-C c.2311G>C p.V771L Missense 10/19 - 4
1-175086266-G-T c.2311G>T p.V771L Missense 10/19 - 6
1-175086277-G-A c.2322G>A p.T774= Synonymous 10/19 - 2
1-175086277-G-C c.2322G>C p.T774= Synonymous 10/19 - 1
1-175086277-G-T c.2322G>T p.T774= Synonymous 10/19 - 1
1-175086278-G-T c.2323G>T p.V775L Missense 10/19 - 1
1-175086284-G-A c.2329G>A p.V777M Missense 10/19 - 1
1-175086284-G-C c.2329G>C p.V777L Missense 10/19 - 2
1-175086284-G-T c.2329G>T p.V777L Missense 10/19 - 3
1-175086285-T-C c.2330T>C p.V777A Missense 10/19 - 1
1-175086288-G-T c.2333G>T p.W778L Missense 10/19 - 1
1-175086291-C-T c.2336C>T p.A779V Missense 10/19 - 1
1-175086286-G-GTGGGCCCCCTTC c.2338_2339insCCTTCTGGGCCC p.A779_Q780insPFWA InFrameInsertion 10/19 - 1
1-175086293-C-T c.2338C>T p.Q780* Nonsense 10/19 - 1
1-175086294-CAGAAGG-C c.2339_2344del p.Q780_G782delinsR MultiAAMissense 10/19 - 1
1-175086295-G-C c.2340G>C p.Q780H Missense 10/19 - 2
1-175086295-G-T c.2340G>T p.Q780H Missense 10/19 - 2
1-175086297-AAGGGG-A c.2342_2346del p.K781Sfs*8 Frameshift 10/19 - 1
1-175086299-G-GCCTTCT c.2344_2345insCCTTCT p.G782delinsAFW MultiAAMissense 10/19 - 1
1-175086300-G-A c.2345G>A p.G782E Missense 10/19 - 1
1-175086300-G-T c.2345G>T p.G782V Missense 10/19 - 1
1-175086302-G-A c.2347G>A p.A783T Missense 10/19 - 1
1-175086303-C-A c.2348C>A p.A783D Missense 10/19 - 1
1-175086304-C-A c.2349C>A p.A783= Synonymous 10/19 - 1
1-175086305-C-T c.2350C>T p.Q784* Nonsense 10/19 - 1
1-175086311-A-G c.2356A>G p.S786G Missense 10/19 - 2
1-175086316-G-A c.2361G>A p.K787= Synonymous 10/19 - 1
1-175086321-C-G c.2366C>G p.A789G Missense 10/19 - 1
1-175086321-C-T c.2366C>T p.A789V Missense 10/19 - 3
1-175086323-G-A c.2368G>A p.D790N Missense 10/19 - 2
1-175086332-G-A c.2377G>A p.A793T Missense 10/19 - 1
1-175086332-G-T c.2377G>T p.A793S Missense 10/19 - 1
1-175086334-C-A c.2379C>A p.A793= Synonymous 10/19 - 2
1-175086334-C-G c.2379C>G p.A793= Synonymous 10/19 - 2
1-175086334-C-T c.2379C>T p.A793= Synonymous 10/19 - 2
1-175086336-A-G c.2381A>G p.Q794R Missense 10/19 - 1
1-175086339-C-A c.2384C>A p.T795K Missense 10/19 - 3
1-175086341-G-A c.2386G>A p.D796N Missense 10/19 - 1
1-175086342-G-T c.2386+1G>T - IntronicSNV - 10/18 1
1-175086461-A-G c.2386+120A>G - IntronicSNV - 10/18 3
1-175087606-T-C c.2387-91T>C - IntronicSNV - 10/18 2
1-175087606-T-G c.2387-91T>G - IntronicSNV - 10/18 2
1-175087620-C-T c.2387-77C>T - IntronicSNV - 10/18 1
1-175087677-G-A c.2387-20G>A - IntronicSNV - 10/18 2
1-175087684-T-C c.2387-13T>C - IntronicSNV - 10/18 1
1-175087702-G-C c.2392G>C p.D798H Missense 11/19 - 1
1-175087706-G-A c.2396G>A p.S799N Missense 11/19 - 1
1-175087711-C-T c.2401C>T p.Q801* Nonsense 11/19 - 1
1-175087712-A-C c.2402A>C p.Q801P Missense 11/19 - 3
1-175087713-A-G c.2403A>G p.Q801= Synonymous 11/19 - 1
1-175087713-A-T c.2403A>T p.Q801H Missense 11/19 - 2
1-175087717-C-A c.2407C>A p.L803M Missense 11/19 - 1
1-175087717-C-T c.2407C>T p.L803= Synonymous 11/19 - 1
1-175087722-C-A c.2412C>A p.V804= Synonymous 11/19 - 1
1-175087724-CT-TG c.2414_2415delinsTG p.T805M Missense 11/19 - 1
1-175087728-C-A c.2418C>A p.D806E Missense 11/19 - 1
1-175087728-C-T c.2418C>T p.D806= Synonymous 11/19 - 1
1-175087729-T-A c.2419T>A p.W807R Missense 11/19 - 4
1-175087729-T-C c.2419T>C p.W807R Missense 11/19 - 30
1-175087730-G-A c.2420G>A p.W807* Nonsense 11/19 - 1
1-175087732-G-A c.2422G>A p.V808M Missense 11/19 - 1
1-175087735-A-G c.2425A>G p.T809A Missense 11/19 - 1
1-175087738-G-A c.2428G>A p.E810K Missense 11/19 - 3
1-175087740-G-A c.2430G>A p.E810= Synonymous 11/19 - 1
1-175087740-G-T c.2430G>T p.E810D Missense 11/19 - 4
1-175087751-CTG-C c.2443_2444del p.V815Lfs*10 Frameshift 11/19 - 1
1-175087757-C-G c.2447C>G p.S816C Missense 11/19 - 1
1-175087757-C-T c.2447C>T p.S816F Missense 11/19 - 6
1-175087760-G-T c.2450G>T p.W817L Missense 11/19 - 2
1-175087761-G-A c.2451G>A p.W817* Nonsense 11/19 - 2
1-175087762-G-T c.2452G>T p.D818Y Missense 11/19 - 2
1-175087766-C-A c.2456C>A p.P819Q Missense 11/19 - 3
1-175087766-C-T c.2456C>T p.P819L Missense 11/19 - 1
1-175087768-G-A c.2458G>A p.V820M Missense 11/19 - 2
1-175087770-G-A c.2460G>A p.V820= Synonymous 11/19 - 1
1-175087770-G-T c.2460G>T p.V820= Synonymous 11/19 - 1
1-175087774-G-T c.2464G>T p.A822S Missense 11/19 - 1
1-175087775-C-T c.2465C>T p.A822V Missense 11/19 - 1
1-175087778-C-T c.2468C>T p.T823I Missense 11/19 - 1
1-175087783-G-A c.2473G>A p.D825N Missense 11/19 - 1
1-175087785-C-A c.2475C>A p.D825E Missense 11/19 - 1
1-175087785-C-T c.2475C>T p.D825= Synonymous 11/19 - 1
1-175087786-AGG-CAT c.2476_2478delinsCAT p.R826H Missense 11/19 - 1
1-175087786-AG-TA c.2476_2477delinsTA p.R826* Nonsense 11/19 - 1
1-175087791-T-A c.2481T>A p.Y827* Nonsense 11/19 - 1
1-175087792-G-A c.2482G>A p.V828M Missense 11/19 - 1
1-175087793-T-G c.2483T>G p.V828G Missense 11/19 - 1
1-175087798-C-A c.2488C>A p.H830N Missense 11/19 - 1
1-175087805-C-A c.2495C>A p.T832K Missense 11/19 - 2
1-175087805-C-T c.2495C>T p.T832M Missense 11/19 - 2
1-175087806-G-A c.2496G>A p.T832= Synonymous 11/19 - 3
1-175087806-G-C c.2496G>C p.T832= Synonymous 11/19 - 1
1-175087806-G-T c.2496G>T p.T832= Synonymous 11/19 - 1
1-175087807-T-C c.2497T>C p.S833P Missense 11/19 - 4
1-175087808-C-G c.2498C>G p.S833C Missense 11/19 - 3
1-175087810-G-A c.2500G>A p.A834T Missense 11/19 - 2
1-175087815-C-T c.2505C>T p.N835= Synonymous 11/19 - 2
1-175087816-G-A c.2506G>A p.G836R Missense 11/19 - 8
1-175087816-G-C c.2506G>C p.G836R Missense 11/19 - 2
1-175087816-G-T c.2506G>T p.G836* Nonsense 11/19 - 1
1-175087817-G-A c.2507G>A p.G836E Missense 11/19 - 4
1-175087817-G-T c.2507G>T p.G836V Missense 11/19 - 1
1-175087821-G-C c.2511G>C p.E837D Missense 11/19 - 1
1-175087821-G-T c.2511G>T p.E837D Missense 11/19 - 1
1-175087823-C-T c.2513C>T p.T838I Missense 11/19 - 1
1-175087824-C-A c.2514C>A p.T838= Synonymous 11/19 - 2
1-175087824-C-G c.2514C>G p.T838= Synonymous 11/19 - 2
1-175087824-C-T c.2514C>T p.T838= Synonymous 11/19 - 3
1-175087826-G-A c.2516G>A p.R839K Missense 11/19 - 4
1-175087826-G-T c.2516G>T p.R839M Missense 11/19 - 1
1-175087833-T-C c.2523T>C p.V841= Synonymous 11/19 - 1
1-175087834-C-T c.2524C>T p.P842S Missense 11/19 - 1
1-175087836-A-G c.2526A>G p.P842= Synonymous 11/19 - 1
1-175087837-G-A c.2527G>A p.V843M Missense 11/19 - 1
1-175087839-G-A c.2529G>A p.V843= Synonymous 11/19 - 1
1-175087840-G-A c.2530G>A p.G844R Missense 11/19 - 2
1-175087840-G-C c.2530G>C p.G844R Missense 11/19 - 1
1-175087841-G-T c.2531G>T p.G844V Missense 11/19 - 1
1-175087842-G-A c.2532G>A p.G844= Synonymous 11/19 - 3
1-175087842-G-C c.2532G>C p.G844= Synonymous 11/19 - 2
1-175087842-G-T c.2532G>T p.G844= Synonymous 11/19 - 1
1-175087848-G-A c.2538G>A p.E846= Synonymous 11/19 - 1
1-175087850-A-G c.2540A>G p.Q847R Missense 11/19 - 1
1-175087853-G-A c.2543G>A p.S848N Missense 11/19 - 1
1-175087864-CTG-TTT c.2554_2556delinsTTT p.L852F Missense 11/19 - 1
1-175087866-G-T c.2556G>T p.L852= Synonymous 11/19 - 1
1-175087868-C-A c.2558C>A p.T853K Missense 11/19 - 1
1-175087868-C-T c.2558C>T p.T853M Missense 11/19 - 5
1-175087870-G-A c.2560G>A p.G854S Missense 11/19 - 2
1-175087870-G-T c.2560G>T p.G854C Missense 11/19 - 1
1-175087873-C-A c.2563C>A p.L855M Missense 11/19 - 4
1-175087873-C-T c.2563C>T p.L855= Synonymous 11/19 - 1
1-175087875-G-A c.2565G>A p.L855= Synonymous 11/19 - 1
1-175087875-G-C c.2565G>C p.L855= Synonymous 11/19 - 1
1-175087875-G-T c.2565G>T p.L855= Synonymous 11/19 - 1
1-175087877-G-C c.2567G>C p.R856T Missense 11/19 - 2
1-175087877-G-T c.2567G>T p.R856M Missense 11/19 - 1
1-175087879-C-A c.2569C>A p.P857T Missense 11/19 - 4
1-175087880-C-T c.2570C>T p.P857L Missense 11/19 - 1
1-175087881-G-A c.2571G>A p.P857= Synonymous 11/19 - 2
1-175087883-G-A c.2573G>A p.G858D Missense 11/19 - 4
1-175087884-C-A c.2574C>A p.G858= Synonymous 11/19 - 2
1-175087884-CA-TG c.2574_2575inv p.M859V Missense 11/19 - 1
1-175087884-C-G c.2574C>G p.G858= Synonymous 11/19 - 5
1-175087884-C-T c.2574C>T p.G858= Synonymous 11/19 - 10
1-175087885-A-G c.2575A>G p.M859V Missense 11/19 - 20
1-175087894-A-G c.2584A>G p.T862A Missense 11/19 - 3
1-175087895-C-T c.2585C>T p.T862M Missense 11/19 - 1
1-175087904-T-C c.2594T>C p.V865A Missense 11/19 - 1
1-175087908-G-C c.2598G>C p.W866C Missense 11/19 - 1
1-175087908-G-T c.2598G>T p.W866C Missense 11/19 - 1
1-175087910-C-T c.2600C>T p.A867V Missense 11/19 - 1
1-175087919-G-A c.2609G>A p.G870E Missense 11/19 - 1
1-175087920-G-A c.2610G>A p.G870= Synonymous 11/19 - 1
1-175087922-A-T c.2612A>T p.N871I Missense 11/19 - 1
1-175087923-C-A c.2613C>A p.N871K Missense 11/19 - 1
1-175087923-C-G c.2613C>G p.N871K Missense 11/19 - 1
1-175087926-G-T c.2616G>T p.Q872H Missense 11/19 - 1
1-175087927-G-A c.2617G>A p.E873K Missense 11/19 - 3
1-175087939-G-A c.2629G>A p.A877T Missense 11/19 - 1
1-175087942-G-A c.2632G>A p.D878N Missense 11/19 - 1
1-175087943-A-C c.2633A>C p.D878A Missense 11/19 - 3
1-175087943-A-G c.2633A>G p.D878G Missense 11/19 - 1
1-175087950-G-A c.2640G>A p.K880= Synonymous 11/19 - 3
1-175087951-G-A c.2641G>A p.A881T Missense 11/19 - 1
1-175087952-C-T c.2642C>T p.A881V Missense 11/19 - 1
1-175087953-C-A c.2643C>A p.A881= Synonymous 11/19 - 1
1-175087953-C-G c.2643C>G p.A881= Synonymous 11/19 - 1
1-175087953-C-T c.2643C>T p.A881= Synonymous 11/19 - 1
1-175087955-A-G c.2645A>G p.Q882R Missense 11/19 - 1
1-175087956-G-C c.2646G>C p.Q882H Missense 11/19 - 1
1-175087960-G-A c.2650G>A p.E884K Missense 11/19 - 1
1-175087961-G-A c.2650+1G>A - IntronicSNV - 11/18 1
1-175088062-G-A c.2650+102G>A - IntronicSNV - 11/18 1
1-175089425-G-A c.2650+1465G>A - IntronicSNV - 11/18 1
1-175090094-A-G c.2650+2134A>G - IntronicSNV - 11/18 1
1-175092540-T-C c.2655T>C p.I885= Synonymous 12/19 - 1
1-175092541-G-A c.2656G>A p.D886N Missense 12/19 - 1
1-175092541-G-T c.2656G>T p.D886Y Missense 12/19 - 1
1-175092541-TG-T c.2656del p.D886Tfs*6 Frameshift 12/19 - 1
1-175092543-C-T c.2658C>T p.D886= Synonymous 12/19 - 3
1-175092546-C-T c.2661C>T p.G887= Synonymous 12/19 - 1
1-175092547-C-T c.2662C>T p.P888S Missense 12/19 - 3
1-175092548-C-A c.2663C>A p.P888H Missense 12/19 - 5
1-175092548-C-T c.2663C>T p.P888L Missense 12/19 - 1
1-175092545-GC-G c.2664del p.N890Tfs*2 Frameshift 12/19 - 1
1-175092550-A-C c.2665A>C p.K889Q Missense 12/19 - 1
1-175092555-C-T c.2670C>T p.N890= Synonymous 12/19 - 3
1-175092565-G-A c.2680G>A p.D894N Missense 12/19 - 2
1-175092565-G-C c.2680G>C p.D894H Missense 12/19 - 1
1-175092569-G-A c.2684G>A p.W895* Nonsense 12/19 - 3
1-175092569-G-T c.2684G>T p.W895L Missense 12/19 - 1
1-175092570-G-A c.2685G>A p.W895* Nonsense 12/19 - 4
1-175092575-C-T c.2690C>T p.T897M Missense 12/19 - 1
1-175092576-G-A c.2691G>A p.T897= Synonymous 12/19 - 1
1-175092577-G-A c.2692G>A p.E898K Missense 12/19 - 3
1-175092579-G-A c.2694G>A p.E898= Synonymous 12/19 - 2
1-175092579-G-T c.2694G>T p.E898D Missense 12/19 - 1
1-175092583-A-G c.2698A>G p.M900V Missense 12/19 - 3
1-175092585-G-A c.2700G>A p.M900I Missense 12/19 - 1
1-175092585-G-C c.2700G>C p.M900I Missense 12/19 - 1
1-175092585-G-T c.2700G>T p.M900I Missense 12/19 - 3
1-175092587-C-G c.2702C>G p.A901G Missense 12/19 - 1
1-175092589-AC-TG c.2704_2705delinsTG p.T902C Missense 12/19 - 1
1-175092592-G-A c.2707G>A p.V903I Missense 12/19 - 3
1-175092596-C-G c.2711C>G p.S904C Missense 12/19 - 3
1-175092596-C-T c.2711C>T p.S904F Missense 12/19 - 4
1-175092599-G-A c.2714G>A p.W905* Nonsense 12/19 - 1
1-175092599-G-T c.2714G>T p.W905L Missense 12/19 - 6
1-175092600-G-A c.2715G>A p.W905* Nonsense 12/19 - 4
1-175092600-G-C c.2715G>C p.W905C Missense 12/19 - 1
1-175092600-G-T c.2715G>T p.W905C Missense 12/19 - 3
1-175092601-G-A c.2716G>A p.D906N Missense 12/19 - 1
1-175092604-C-G c.2719C>G p.P907A Missense 12/19 - 1
1-175092608-T-C c.2723T>C p.V908A Missense 12/19 - 1
1-175092611-A-G c.2726A>G p.Q909R Missense 12/19 - 1
1-175092612-G-C c.2727G>C p.Q909H Missense 12/19 - 1
1-175092613-G-A c.2728G>A p.A910T Missense 12/19 - 1
1-175092613-G-T c.2728G>T p.A910S Missense 12/19 - 1
1-175092614-C-A c.2729C>A p.A910D Missense 12/19 - 2
1-175092631-A-C c.2746A>C p.M916L Missense 12/19 - 8
1-175092631-A-G c.2746A>G p.M916V Missense 12/19 - 1
1-175092631-A-T c.2746A>T p.M916L Missense 12/19 - 4
1-175092634-G-T c.2749G>T p.V917L Missense 12/19 - 1
1-175092634-GTG-ATC c.2749_2751delinsATC p.V917I Missense 12/19 - 1
1-175092636-G-A c.2751G>A p.V917= Synonymous 12/19 - 1
1-175092637-C-T c.2752C>T p.R918C Missense 12/19 - 8
1-175092638-G-A c.2753G>A p.R918H Missense 12/19 - 1
1-175092641-A-G c.2756A>G p.Y919C Missense 12/19 - 1
1-175092643-A-G c.2758A>G p.T920A Missense 12/19 - 1
1-175092643-A-T c.2758A>T p.T920S Missense 12/19 - 1
1-175092644-C-G c.2759C>G p.T920S Missense 12/19 - 1
1-175092645-C-A c.2760C>A p.T920= Synonymous 12/19 - 1
1-175092646-T-G c.2761T>G p.S921A Missense 12/19 - 1
1-175092647-C-G c.2762C>G p.S921C Missense 12/19 - 1
1-175092647-C-T c.2762C>T p.S921F Missense 12/19 - 4
1-175092651-T-A c.2766T>A p.A922= Synonymous 12/19 - 1
1-175092651-T-C c.2766T>C p.A922= Synonymous 12/19 - 1
1-175092651-T-G c.2766T>G p.A922= Synonymous 12/19 - 1
1-175092654-C-T c.2769C>T p.D923= Synonymous 12/19 - 3
1-175092655-G-A c.2770G>A p.G924R Missense 12/19 - 2
1-175092664-AGG-TGT c.2779_2781delinsTGT p.R927C Missense 12/19 - 1
1-175092664-A-T c.2779A>T p.R927W Missense 12/19 - 1
1-175092665-G-C c.2780G>C p.R927T Missense 12/19 - 2
1-175092665-G-T c.2780G>T p.R927M Missense 12/19 - 4
1-175092666-G-C c.2781G>C p.R927S Missense 12/19 - 3
1-175092666-G-T c.2781G>T p.R927S Missense 12/19 - 4
1-175092667-G-A c.2782G>A p.E928K Missense 12/19 - 5
1-175092673-C-T c.2788C>T p.P930S Missense 12/19 - 1
1-175092674-C-T c.2789C>T p.P930L Missense 12/19 - 41
1-175092675-G-A c.2790G>A p.P930= Synonymous 12/19 - 2
1-175092675-G-C c.2790G>C p.P930= Synonymous 12/19 - 1
1-175092675-G-T c.2790G>T p.P930= Synonymous 12/19 - 1
1-175092678-G-T c.2793G>T p.V931= Synonymous 12/19 - 1
1-175092680-G-A c.2795G>A p.G932E Missense 12/19 - 3
1-175092683-A-G c.2798A>G p.K933R Missense 12/19 - 1
1-175092698-C-G c.2813C>G p.T938S Missense 12/19 - 1
1-175092698-C-T c.2813C>T p.T938I Missense 12/19 - 1
1-175092698-CT-GG c.2813_2814delinsGG p.T938R Missense 12/19 - 1
1-175092699-T-G c.2814T>G p.T938= Synonymous 12/19 - 1
1-175092702-C-T c.2817C>T p.V939= Synonymous 12/19 - 1
1-175092707-C-A c.2822C>A p.T941K Missense 12/19 - 1
1-175092707-C-T c.2822C>T p.T941M Missense 12/19 - 32
1-175092708-G-A c.2823G>A p.T941= Synonymous 12/19 - 1
1-175092708-G-C c.2823G>C p.T941= Synonymous 12/19 - 1
1-175092708-G-T c.2823G>T p.T941= Synonymous 12/19 - 2
1-175092709-G-A c.2824G>A p.G942S Missense 12/19 - 5
1-175092715-A-G c.2830A>G p.R944G Missense 12/19 - 1
1-175092715-A-T c.2830A>T p.R944* Nonsense 12/19 - 1
1-175092718-C-A c.2833C>A p.P945T Missense 12/19 - 2
1-175092720-AG-A c.2837del p.G946Afs*39 Frameshift 12/19 - 1
1-175092722-G-A c.2837G>A p.G946D Missense 12/19 - 1
1-175092722-G-C c.2837G>C p.G946A Missense 12/19 - 1
1-175092723-C-A c.2838C>A p.G946= Synonymous 12/19 - 1
1-175092723-C-G c.2838C>G p.G946= Synonymous 12/19 - 1
1-175092723-C-T c.2838C>T p.G946= Synonymous 12/19 - 1
1-175092727-G-A c.2842G>A p.E948K Missense 12/19 - 2
1-175092734-TG-T c.2851del p.V951Cfs*34 Frameshift 12/19 - 1
1-175092737-T-G c.2852T>G p.V951G Missense 12/19 - 2
1-175092741-C-T c.2856C>T p.H952= Synonymous 12/19 - 3
1-175092742-G-C c.2857G>C p.V953L Missense 12/19 - 4
1-175092742-G-T c.2857G>T p.V953L Missense 12/19 - 5
1-175092743-T-C c.2858T>C p.V953A Missense 12/19 - 3
1-175092747-G-A c.2862G>A p.W954* Nonsense 12/19 - 1
1-175092748-G-A c.2863G>A p.A955T Missense 12/19 - 1
1-175092749-C-G c.2864C>G p.A955G Missense 12/19 - 1
1-175092744-G-GTGGGCCCCCTTC c.2866_2867insCCTTCTGGGCCC p.A955_Q956insPFWA InFrameInsertion 12/19 - 1
1-175092757-G-A c.2872G>A p.G958R Missense 12/19 - 5
1-175092757-G-C c.2872G>C p.G958R Missense 12/19 - 2
1-175092758-G-A c.2873G>A p.G958E Missense 12/19 - 1
1-175092758-G-T c.2873G>T p.G958V Missense 12/19 - 2
1-175092766-G-A c.2881G>A p.E961K Missense 12/19 - 2
1-175092773-A-C c.2888A>C p.K963T Missense 12/19 - 2
1-175092773-A-G c.2888A>G p.K963R Missense 12/19 - 4
1-175092773-A-AGCTT c.2889_2890insCTTG p.K964Lfs*4 Frameshift 12/19 - 1
1-175092777-G-C c.2892G>C p.K964N Missense 12/19 - 1
1-175092777-G-T c.2892G>T p.K964N Missense 12/19 - 2
1-175092779-C-T c.2894C>T p.A965V Missense 12/19 - 1
1-175092783-C-T c.2898C>T p.D966= Synonymous 12/19 - 1
1-175092791-C-T c.2906C>T p.A969V Missense 12/19 - 1
1-175092792-C-G c.2907C>G p.A969= Synonymous 12/19 - 1
1-175092794-A-C c.2909A>C p.Q970P Missense 12/19 - 1
1-175092800-G-T c.2914+1G>T - IntronicSNV - 12/18 1
1-175092816-G-C c.2914+17G>C - IntronicSNV - 12/18 1
1-175092840-T-C c.2914+41T>C - IntronicSNV - 12/18 8
1-175092863-A-G c.2914+64A>G - IntronicSNV - 12/18 1
1-175092992-GGAGT-G c.2914+199_2914+202del - IntronicDeletion - 12/18 1
1-175094025-G-A c.2914+1226G>A - IntronicSNV - 12/18 2
1-175094025-G-T c.2914+1226G>T - IntronicSNV - 12/18 2
1-175095936-C-G c.2915-155C>G - IntronicSNV - 12/18 3
1-175095936-C-T c.2915-155C>T - IntronicSNV - 12/18 3
1-175096093-C-T c.2917C>T p.L973F Missense 13/19 - 3
1-175096095-C-T c.2919C>T p.L973= Synonymous 13/19 - 2
1-175096096-G-A c.2920G>A p.D974N Missense 13/19 - 5
1-175096101-T-A c.2925T>A p.P975= Synonymous 13/19 - 1
1-175096101-T-C c.2925T>C p.P975= Synonymous 13/19 - 1
1-175096101-T-G c.2925T>G p.P975= Synonymous 13/19 - 1
1-175096102-C-A c.2926C>A p.P976T Missense 13/19 - 1
1-175096103-C-T c.2927C>T p.P976L Missense 13/19 - 1
1-175096104-C-A c.2928C>A p.P976= Synonymous 13/19 - 1
1-175096105-A-G c.2929A>G p.R977G Missense 13/19 - 1
1-175096105-AG-CC c.2929_2930delinsCC p.R977P Missense 13/19 - 1
1-175096106-G-A c.2930G>A p.R977K Missense 13/19 - 2
1-175096114-C-T c.2938C>T p.R980C Missense 13/19 - 6
1-175096115-G-A c.2939G>A p.R980H Missense 13/19 - 3
1-175096118-C-A c.2942C>A p.P981Q Missense 13/19 - 1
1-175096130-C-T c.2954C>T p.T985M Missense 13/19 - 2
1-175096131-G-A c.2955G>A p.T985= Synonymous 13/19 - 1
1-175096131-G-T c.2955G>T p.T985= Synonymous 13/19 - 1
1-175096133-A-C c.2957A>C p.Q986P Missense 13/19 - 1
1-175096133-A-T c.2957A>T p.Q986L Missense 13/19 - 2
1-175096136-C-T c.2960C>T p.S987F Missense 13/19 - 1
1-175096138-G-A c.2962G>A p.G988S Missense 13/19 - 1
1-175096139-G-T c.2963G>T p.G988V Missense 13/19 - 1
1-175096143-C-A c.2967C>A p.G989= Synonymous 13/19 - 1
1-175096143-C-G c.2967C>G p.G989= Synonymous 13/19 - 1
1-175096143-C-T c.2967C>T p.G989= Synonymous 13/19 - 1
1-175096150-A-T c.2974A>T p.T992S Missense 13/19 - 1
1-175096151-C-G c.2975C>G p.T992S Missense 13/19 - 2
1-175096151-C-T c.2975C>T p.T992I Missense 13/19 - 2
1-175096153-T-A c.2977T>A p.W993R Missense 13/19 - 1
1-175096153-T-C c.2977T>C p.W993R Missense 13/19 - 1
1-175096157-C-A c.2981C>A p.T994K Missense 13/19 - 1
1-175096157-C-T c.2981C>T p.T994M Missense 13/19 - 2
1-175096158-G-A c.2982G>A p.T994= Synonymous 13/19 - 1
1-175096159-C-T c.2983C>T p.P995S Missense 13/19 - 1
1-175096160-C-A c.2984C>A p.P995H Missense 13/19 - 4
1-175096162-C-G c.2986C>G p.P996A Missense 13/19 - 1
1-175096163-C-T c.2987C>T p.P996L Missense 13/19 - 1
1-175096158-G-GC c.2988dup p.S997Lfs*19 Frameshift 13/19 - 1
1-175096165-T-C c.2989T>C p.S997P Missense 13/19 - 1
1-175096168-G-A c.2992G>A p.A998T Missense 13/19 - 1
1-175096171-C-A c.2995C>A p.Q999K Missense 13/19 - 3
1-175096176-C-T c.3000C>T p.I1000= Synonymous 13/19 - 3
1-175096180-G-A c.3004G>A p.G1002S Missense 13/19 - 9
1-175096182-C-A c.3006C>A p.G1002= Synonymous 13/19 - 1
1-175096183-T-C c.3007T>C p.Y1003H Missense 13/19 - 2
1-175096188-T-A c.3012T>A p.I1004= Synonymous 13/19 - 1
1-175096193-C-T c.3017C>T p.T1006I Missense 13/19 - 2
1-175096197-C-A c.3021C>A p.Y1007* Nonsense 13/19 - 1
1-175096202-T-C c.3026T>C p.F1009S Missense 13/19 - 1
1-175096203-C-T c.3027C>T p.F1009= Synonymous 13/19 - 3
1-175096204-C-A c.3028C>A p.P1010T Missense 13/19 - 1
1-175096204-C-T c.3028C>T p.P1010S Missense 13/19 - 2
1-175096207-G-C c.3031G>C p.D1011H Missense 13/19 - 1
1-175096211-G-A c.3035G>A p.G1012D Missense 13/19 - 1
1-175096213-A-T c.3037A>T p.T1013S Missense 13/19 - 1
1-175096214-C-T c.3038C>T p.T1013I Missense 13/19 - 2
1-175096225-C-G c.3045+4C>G - IntronicSNV - 13/18 1
1-175096225-C-T c.3045+4C>T - IntronicSNV - 13/18 2
1-175096226-G-A c.3045+5G>A - IntronicSNV - 13/18 1
1-175096333-A-G c.3045+112A>G - IntronicSNV - 13/18 5
1-175096333-A-T c.3045+112A>T - IntronicSNV - 13/18 3
1-175096389-C-T c.3045+168C>T - IntronicSNV - 13/18 3
1-175097094-C-T c.3046-74C>T - IntronicSNV - 13/18 1
1-175097169-A-T c.3047A>T p.E1016V Missense 14/19 - 1
1-175097170-G-A c.3048G>A p.E1016= Synonymous 14/19 - 1
1-175097173-G-A c.3051G>A p.M1017I Missense 14/19 - 3
1-175097173-G-C c.3051G>C p.M1017I Missense 14/19 - 1
1-175097173-G-T c.3051G>T p.M1017I Missense 14/19 - 1
1-175097176-G-T c.3054G>T p.Q1018H Missense 14/19 - 1
1-175097181-G-A c.3059G>A p.G1020E Missense 14/19 - 4
1-175097181-G-C c.3059G>C p.G1020A Missense 14/19 - 3
1-175097182-A-T c.3060A>T p.G1020= Synonymous 14/19 - 1
1-175097183-C-T c.3061C>T p.R1021W Missense 14/19 - 4
1-175097184-G-A c.3062G>A p.R1021Q Missense 14/19 - 2
1-175097184-G-T c.3062G>T p.R1021L Missense 14/19 - 1
1-175097186-G-A c.3064G>A p.E1022K Missense 14/19 - 7
1-175097187-A-G c.3065A>G p.E1022G Missense 14/19 - 4
1-175097192-C-T c.3070C>T p.Q1024* Nonsense 14/19 - 2
1-175097197-G-A c.3075G>A p.R1025= Synonymous 14/19 - 1
1-175097203-G-A c.3081G>A p.A1027= Synonymous 14/19 - 4
1-175097203-G-C c.3081G>C p.A1027= Synonymous 14/19 - 2
1-175097203-G-T c.3081G>T p.A1027= Synonymous 14/19 - 3
1-175097205-T-A c.3083T>A p.L1028* Nonsense 14/19 - 1
1-175097207-C-T c.3085C>T p.Q1029* Nonsense 14/19 - 1
1-175097212-C-T c.3090C>T p.G1030= Synonymous 14/19 - 1
1-175097218-G-A c.3096G>A p.E1032= Synonymous 14/19 - 1
1-175097219-C-A c.3097C>A p.Q1033K Missense 14/19 - 1
1-175097222-G-T c.3100G>T p.G1034C Missense 14/19 - 1
1-175097224-C-A c.3102C>A p.G1034= Synonymous 14/19 - 1
1-175097224-C-G c.3102C>G p.G1034= Synonymous 14/19 - 1
1-175097224-C-T c.3102C>T p.G1034= Synonymous 14/19 - 3
1-175097225-G-A c.3103G>A p.A1035T Missense 14/19 - 2
1-175097238-T-C c.3116T>C p.V1039A Missense 14/19 - 1
1-175097239-C-A c.3117C>A p.V1039= Synonymous 14/19 - 1
1-175097239-C-G c.3117C>G p.V1039= Synonymous 14/19 - 1
1-175097239-C-T c.3117C>T p.V1039= Synonymous 14/19 - 1
1-175097241-C-T c.3119C>T p.S1040F Missense 14/19 - 1
1-175097242-C-T c.3120C>T p.S1040= Synonymous 14/19 - 3
1-175097243-C-T c.3121C>T p.L1041F Missense 14/19 - 1
1-175097245-T-A c.3123T>A p.L1041= Synonymous 14/19 - 1
1-175097245-T-C c.3123T>C p.L1041= Synonymous 14/19 - 1
1-175097245-T-G c.3123T>G p.L1041= Synonymous 14/19 - 1
1-175097249-G-A c.3127G>A p.A1043T Missense 14/19 - 7
1-175097250-C-G c.3128C>G p.A1043G Missense 14/19 - 1
1-175097250-C-T c.3128C>T p.A1043V Missense 14/19 - 1
1-175097251-C-A c.3129C>A p.A1043= Synonymous 14/19 - 3
1-175097258-G-A c.3136G>A p.G1046S Missense 14/19 - 5
1-175097262-G-C c.3140G>C p.G1047A Missense 14/19 - 1
1-175097264-CGC-AAG c.3142_3144delinsAAG p.R1048K Missense 14/19 - 1
1-175097264-CGC-TGG c.3142_3144delinsTGG p.R1048W Missense 14/19 - 2
1-175097264-C-T c.3142C>T p.R1048C Missense 14/19 - 6
1-175097265-G-A c.3143G>A p.R1048H Missense 14/19 - 1
1-175097267-C-A c.3145C>A p.R1049= Synonymous 14/19 - 1
1-175097267-C-T c.3145C>T p.R1049W Missense 14/19 - 2
1-175097271-G-C c.3149G>C p.S1050T Missense 14/19 - 1
1-175097270-A-C c.3148A>C p.S1050R Missense 14/19 - 2
1-175097272-C-A c.3150C>A p.S1050R Missense 14/19 - 3
1-175097272-C-G c.3150C>G p.S1050R Missense 14/19 - 2
1-175097274-G-A c.3152G>A p.R1051K Missense 14/19 - 3
1-175097277-A-G c.3155A>G p.N1052S Missense 14/19 - 1
1-175097278-T-C c.3156T>C p.N1052= Synonymous 14/19 - 1
1-175097279-G-C c.3157G>C p.V1053L Missense 14/19 - 1
1-175097279-G-T c.3157G>T p.V1053L Missense 14/19 - 1
1-175097283-C-A c.3161C>A p.S1054Y Missense 14/19 - 1
1-175097286-C-A c.3164C>A p.T1055N Missense 14/19 - 1
1-175097287-C-A c.3165C>A p.T1055= Synonymous 14/19 - 1
1-175097288-A-T c.3166A>T p.T1056S Missense 14/19 - 1
1-175097289-C-G c.3167C>G p.T1056S Missense 14/19 - 2
1-175097291-C-A c.3169C>A p.L1057I Missense 14/19 - 1
1-175097291-C-T c.3169C>T p.L1057F Missense 14/19 - 1
1-175097293-C-T c.3171C>T p.L1057= Synonymous 14/19 - 1
1-175097299-A-G c.3177A>G p.T1059= Synonymous 14/19 - 1
1-175097331-G-A c.3178+31G>A - IntronicSNV - 14/18 10
1-175097349-C-G c.3178+49C>G - IntronicSNV - 14/18 5
1-175097349-C-T c.3178+49C>T - IntronicSNV - 14/18 10
1-175097357-C-G c.3178+57C>G - IntronicSNV - 14/18 7
1-175097547-C-A c.3179-184C>A - IntronicSNV - 14/18 1
1-175097731-T-G c.3179T>G p.V1060G Missense 15/19 - 1
1-175097733-G-T c.3181G>T p.G1061C Missense 15/19 - 1
1-175097735-T-A c.3183T>A p.G1061= Synonymous 15/19 - 1
1-175097737-C-G c.3185C>G p.A1062G Missense 15/19 - 1
1-175097739-C-G c.3187C>G p.R1063G Missense 15/19 - 1
1-175097739-C-T c.3187C>T p.R1063C Missense 15/19 - 1
1-175097740-G-A c.3188G>A p.R1063H Missense 15/19 - 3
1-175097744-C-T c.3192C>T p.F1064= Synonymous 15/19 - 1
1-175097745-C-T c.3193C>T p.P1065S Missense 15/19 - 2
1-175097746-C-A c.3194C>A p.P1065Q Missense 15/19 - 2
1-175097752-C-T c.3200C>T p.P1067L Missense 15/19 - 2
1-175097753-T-A c.3201T>A p.P1067= Synonymous 15/19 - 1
1-175097753-T-C c.3201T>C p.P1067= Synonymous 15/19 - 1
1-175097753-T-G c.3201T>G p.P1067= Synonymous 15/19 - 1
1-175097755-C-T c.3203C>T p.S1068L Missense 15/19 - 3
1-175097757-G-A c.3205G>A p.D1069N Missense 15/19 - 5
1-175097757-G-T c.3205G>T p.D1069Y Missense 15/19 - 1
1-175097762-C-T c.3210C>T p.C1070= Synonymous 15/19 - 2
1-175097769-G-A c.3217G>A p.V1073I Missense 15/19 - 5
1-175097769-G-T c.3217G>T p.V1073F Missense 15/19 - 2
1-175097772-C-T c.3220C>T p.Q1074* Nonsense 15/19 - 1
1-175097774-G-C c.3222G>C p.Q1074H Missense 15/19 - 1
1-175097774-G-T c.3222G>T p.Q1074H Missense 15/19 - 1
1-175097777-G-A c.3225G>A p.Q1075= Synonymous 15/19 - 2
1-175097787-G-A c.3235G>A p.A1079T Missense 15/19 - 1
1-175097789-C-A c.3237C>A p.A1079= Synonymous 15/19 - 1
1-175097789-C-T c.3237C>T p.A1079= Synonymous 15/19 - 2
1-175097790-G-A c.3238G>A p.A1080T Missense 15/19 - 3
1-175097792-C-T c.3240C>T p.A1080= Synonymous 15/19 - 1
1-175097798-T-A c.3246T>A p.G1082= Synonymous 15/19 - 1
1-175097798-T-C c.3246T>C p.G1082= Synonymous 15/19 - 1
1-175097798-T-G c.3246T>G p.G1082= Synonymous 15/19 - 1
1-175097799-C-T c.3247C>T p.L1083= Synonymous 15/19 - 3
1-175097807-C-A c.3255C>A p.T1085= Synonymous 15/19 - 1
1-175097807-C-G c.3255C>G p.T1085= Synonymous 15/19 - 1
1-175097807-C-T c.3255C>T p.T1085= Synonymous 15/19 - 4
1-175097813-C-T c.3261C>T p.Y1087= Synonymous 15/19 - 2
1-175097814-C-G c.3262C>G p.L1088V Missense 15/19 - 1
1-175097822-C-T c.3270C>T p.G1090= Synonymous 15/19 - 1
1-175097823-G-A c.3271G>A p.D1091N Missense 15/19 - 6
1-175097826-G-A c.3274G>A p.A1092T Missense 15/19 - 1
1-175097830-G-A c.3278G>A p.S1093N Missense 15/19 - 2
1-175097832-C-T c.3280C>T p.R1094W Missense 15/19 - 1
1-175097833-G-A c.3281G>A p.R1094Q Missense 15/19 - 1
1-175097836-C-A c.3284C>A p.P1095H Missense 15/19 - 1
1-175097836-C-T c.3284C>T p.P1095L Missense 15/19 - 2
1-175097850-TG-AC c.3298_3299delinsAC p.C1100T Missense 15/19 - 1
1-175097855-C-A c.3303C>A p.D1101E Missense 15/19 - 2
1-175097855-C-G c.3303C>G p.D1101E Missense 15/19 - 3
1-175097858-G-A c.3306G>A p.M1102I Missense 15/19 - 2
1-175097859-G-A c.3307G>A p.E1103K Missense 15/19 - 4
1-175097863-C-A c.3311C>A p.T1104K Missense 15/19 - 1
1-175097864-G-A c.3312G>A p.T1104= Synonymous 15/19 - 12
1-175097864-G-C c.3312G>C p.T1104= Synonymous 15/19 - 11
1-175097864-G-T c.3312G>T p.T1104= Synonymous 15/19 - 1
1-175097867-C-T c.3315C>T p.D1105= Synonymous 15/19 - 1
1-175097868-G-A c.3316G>A p.G1106R Missense 15/19 - 2
1-175097868-G-C c.3316G>C p.G1106R Missense 15/19 - 1
1-175097869-G-A c.3317G>A p.G1106E Missense 15/19 - 3
1-175097869-G-C c.3317G>C p.G1106A Missense 15/19 - 1
1-175097884-T-C c.3330+2T>C - IntronicSNV - 15/18 1
1-175097932-G-A c.3330+50G>A - IntronicSNV - 15/18 1
1-175097991-C-T c.3330+109C>T - IntronicSNV - 15/18 5
1-175099772-T-C c.3330+1890T>C - IntronicSNV - 15/18 1
1-175104719-T-C c.3331-262T>C - IntronicSNV - 15/18 3
1-175104790-T-C c.3331-191T>C - IntronicSNV - 15/18 2
1-175104796-G-T c.3331-185G>T - IntronicSNV - 15/18 5
1-175104981-G-A c.3331G>A p.V1111I Missense 16/19 - 1
1-175104988-A-C c.3338A>C p.Q1113P Missense 16/19 - 1
1-175104989-G-T c.3339G>T p.Q1113H Missense 16/19 - 2
1-175104993-CGG-TGT c.3343_3345delinsTGT p.R1115C Missense 16/19 - 1
1-175104993-C-T c.3343C>T p.R1115W Missense 16/19 - 5
1-175104994-G-A c.3344G>A p.R1115Q Missense 16/19 - 3
1-175104995-G-A c.3345G>A p.R1115= Synonymous 16/19 - 1
1-175104997-A-G c.3347A>G p.N1116S Missense 16/19 - 1
1-175104998-C-T c.3348C>T p.N1116= Synonymous 16/19 - 1
1-175105001-T-C c.3351T>C p.T1117= Synonymous 16/19 - 1
1-175105005-C-A c.3355C>A p.Q1119K Missense 16/19 - 2
1-175105011-G-A c.3361G>A p.D1121N Missense 16/19 - 3
1-175105014-T-C c.3364T>C p.F1122L Missense 16/19 - 1
1-175105016-C-A c.3366C>A p.F1122L Missense 16/19 - 1
1-175105016-C-G c.3366C>G p.F1122L Missense 16/19 - 1
1-175105016-C-T c.3366C>T p.F1122= Synonymous 16/19 - 3
1-175105017-T-C c.3367T>C p.F1123L Missense 16/19 - 1
1-175105018-T-G c.3368T>G p.F1123C Missense 16/19 - 1
1-175105024-G-A c.3374G>A p.R1125Q Missense 16/19 - 2
1-175105024-G-T c.3374G>T p.R1125L Missense 16/19 - 1
1-175105026-T-A c.3376T>A p.W1126R Missense 16/19 - 1
1-175105026-T-C c.3376T>C p.W1126R Missense 16/19 - 2
1-175105027-G-A c.3377G>A p.W1126* Nonsense 16/19 - 6
1-175105027-G-T c.3377G>T p.W1126L Missense 16/19 - 1
1-175105028-G-A c.3378G>A p.W1126* Nonsense 16/19 - 1
1-175105030-G-A c.3380G>A p.R1127K Missense 16/19 - 5
1-175105030-GG-AA c.3380_3381delinsAA p.R1127K Missense 16/19 - 1
1-175105030-G-T c.3380G>T p.R1127M Missense 16/19 - 1
1-175105031-G-A c.3381G>A p.R1127= Synonymous 16/19 - 3
1-175105038-G-A c.3388G>A p.V1130M Missense 16/19 - 1
1-175105045-G-A c.3395G>A p.G1132D Missense 16/19 - 2
1-175105050-G-A c.3400G>A p.G1134R Missense 16/19 - 1
1-175105055-C-A c.3405C>A p.D1135E Missense 16/19 - 2
1-175105055-C-G c.3405C>G p.D1135E Missense 16/19 - 1
1-175105056-C-A c.3406C>A p.P1136T Missense 16/19 - 1
1-175105058-C-A c.3408C>A p.P1136= Synonymous 16/19 - 1
1-175105058-C-G c.3408C>G p.P1136= Synonymous 16/19 - 1
1-175105058-C-T c.3408C>T p.P1136= Synonymous 16/19 - 3
1-175105061-G-A c.3411G>A p.M1137I Missense 16/19 - 6
1-175105061-G-C c.3411G>C p.M1137I Missense 16/19 - 3
1-175105061-G-T c.3411G>T p.M1137I Missense 16/19 - 4
1-175105063-A-T c.3413A>T p.K1138M Missense 16/19 - 3
1-175105064-G-C c.3414G>C p.K1138N Missense 16/19 - 1
1-175105064-G-T c.3414G>T p.K1138N Missense 16/19 - 1
1-175105065-G-A c.3415G>A p.E1139K Missense 16/19 - 2
1-175105067-G-T c.3417G>T p.E1139D Missense 16/19 - 1
1-175105077-G-T c.3427G>T p.G1143* Nonsense 16/19 - 1
1-175105078-G-C c.3427+1G>C - IntronicSNV - 16/18 1
1-175105094-C-T c.3427+17C>T - IntronicSNV - 16/18 1
1-175105127-C-A c.3427+50C>A - IntronicSNV - 16/18 1
1-175105451-AT-A c.3427+380del - IntronicDeletion - 16/18 1
1-175105778-T-C c.3428-179T>C - IntronicSNV - 16/18 1
1-175105880-G-A c.3428-77G>A - IntronicSNV - 16/18 6
1-175105880-G-C c.3428-77G>C - IntronicSNV - 16/18 6
1-175105919-G-A c.3428-38G>A - IntronicSNV - 16/18 1
1-175105942-G-A c.3428-15G>A - IntronicSNV - 16/18 8
1-175105942-G-T c.3428-15G>T - IntronicSNV - 16/18 8
1-175105956-G-A c.3428-1G>A - IntronicSNV - 16/18 2
1-175105958-A-G c.3429A>G p.G1143= Synonymous 17/19 - 1
1-175105962-G-A c.3433G>A p.D1145N Missense 17/19 - 1
1-175105962-G-C c.3433G>C p.D1145H Missense 17/19 - 1
1-175105963-A-T c.3434A>T p.D1145V Missense 17/19 - 1
1-175105971-C-T c.3442C>T p.H1148Y Missense 17/19 - 1
1-175105977-C-T c.3448C>T p.L1150F Missense 17/19 - 1
1-175105980-A-T c.3451A>T p.T1151S Missense 17/19 - 1
1-175105981-C-G c.3452C>G p.T1151S Missense 17/19 - 1
1-175105981-C-T c.3452C>T p.T1151I Missense 17/19 - 1
1-175105982-C-T c.3453C>T p.T1151= Synonymous 17/19 - 1
1-175105983-A-G c.3454A>G p.T1152A Missense 17/19 - 1
1-175105985-C-A c.3456C>A p.T1152= Synonymous 17/19 - 2
1-175105985-C-G c.3456C>G p.T1152= Synonymous 17/19 - 3
1-175105985-C-T c.3456C>T p.T1152= Synonymous 17/19 - 4
1-175105986-G-A c.3457G>A p.G1153S Missense 17/19 - 1
1-175105986-G-C c.3457G>C p.G1153R Missense 17/19 - 2
1-175105987-G-A c.3458G>A p.G1153D Missense 17/19 - 1
1-175105987-G-C c.3458G>C p.G1153A Missense 17/19 - 2
1-175105987-G-T c.3458G>T p.G1153V Missense 17/19 - 1
1-175105993-C-T c.3464C>T p.P1155L Missense 17/19 - 2
1-175105996-C-A c.3467C>A p.A1156E Missense 17/19 - 2
1-175105996-C-T c.3467C>T p.A1156V Missense 17/19 - 18
1-175105997-G-A c.3468G>A p.A1156= Synonymous 17/19 - 2
1-175105997-G-C c.3468G>C p.A1156= Synonymous 17/19 - 1
1-175105997-G-T c.3468G>T p.A1156= Synonymous 17/19 - 1
1-175105998-C-T c.3469C>T p.R1157W Missense 17/19 - 3
1-175105999-G-C c.3470G>C p.R1157P Missense 17/19 - 3
1-175105999-G-T c.3470G>T p.R1157L Missense 17/19 - 2
1-175106008-T-A c.3479T>A p.V1160E Missense 17/19 - 1
1-175106022-C-A c.3493C>A p.Q1165K Missense 17/19 - 1
1-175106034-G-A c.3505G>A p.E1169K Missense 17/19 - 4
1-175106041-C-G c.3512C>G p.A1171G Missense 17/19 - 1
1-175106041-C-T c.3512C>T p.A1171V Missense 17/19 - 1
1-175106044-A-G c.3515A>G p.Y1172C Missense 17/19 - 1
1-175106046-G-T c.3517G>T p.A1173S Missense 17/19 - 1
1-175106049-A-T c.3520A>T p.I1174L Missense 17/19 - 1
1-175106053-A-C c.3524A>C p.Y1175S Missense 17/19 - 1
1-175106062-T-C c.3533T>C p.F1178S Missense 17/19 - 1
1-175106067-G-A c.3538G>A p.V1180M Missense 17/19 - 3
1-175106070-G-C c.3541G>C p.A1181P Missense 17/19 - 1
1-175106074-C-T c.3545C>T p.S1182F Missense 17/19 - 1
1-175106077-G-A c.3548G>A p.S1183N Missense 17/19 - 1
1-175106082-G-A c.3553G>A p.E1185K Missense 17/19 - 2
1-175106085-C-A c.3556C>A p.R1186= Synonymous 17/19 - 1
1-175106085-C-T c.3556C>T p.R1186W Missense 17/19 - 2
1-175106086-G-A c.3557G>A p.R1186Q Missense 17/19 - 1
1-175106087-G-A c.3558G>A p.R1186= Synonymous 17/19 - 1
1-175106092-A-T c.3563A>T p.K1188M Missense 17/19 - 1
1-175106095-T-C c.3566T>C p.L1189P Missense 17/19 - 2
1-175106098-C-A c.3569C>A p.T1190K Missense 17/19 - 1
1-175106105-G-A c.3576G>A p.G1192= Synonymous 17/19 - 3
1-175106111-C-A c.3582C>A p.Y1194* Nonsense 17/19 - 2
1-175106111-C-G c.3582C>G p.Y1194* Nonsense 17/19 - 2
1-175106112-A-G c.3583A>G p.R1195G Missense 17/19 - 1
1-175106119-C-T c.3590C>T p.T1197M Missense 17/19 - 2
1-175107826-C-T c.3595+1702C>T - IntronicSNV - 17/18 1
1-175109492-T-G c.3595+3368T>G - IntronicSNV - 17/18 1
1-175109517-G-A c.3595+3393G>A - IntronicSNV - 17/18 3
1-175109517-G-C c.3595+3393G>C - IntronicSNV - 17/18 3
1-175109722-A-G c.3595+3598A>G - IntronicSNV - 17/18 2
1-175111574-C-T c.3596-1949C>T - IntronicSNV - 17/18 1
1-175111760-C-CA c.3596-1763_3596-1762insA - IntronicInsertion - 17/18 1
1-175113118-T-G c.3596-405T>G - IntronicSNV - 17/18 1
1-175113523-G-A c.3596G>A p.G1199E Missense 18/19 - 1
1-175113528-G-A c.3601G>A p.A1201T Missense 18/19 - 1
1-175113529-C-G c.3602C>G p.A1201G Missense 18/19 - 1
1-175113540-C-T c.3613C>T p.H1205Y Missense 18/19 - 3
1-175113546-G-A c.3619G>A p.G1207R Missense 18/19 - 2
1-175113550-G-T c.3623G>T p.W1208L Missense 18/19 - 1
1-175113551-G-A c.3624G>A p.W1208* Nonsense 18/19 - 4
1-175113555-T-C c.3628T>C p.F1210L Missense 18/19 - 6
1-175113557-T-A c.3630T>A p.F1210L Missense 18/19 - 1
1-175113557-T-G c.3630T>G p.F1210L Missense 18/19 - 1
1-175113562-C-CT c.3639dup p.D1214* Nonsense 18/19 - 1
1-175113567-GAC-TAA c.3640_3642delinsTAA p.D1214* Nonsense 18/19 - 2
1-175113570-AGA-TGG c.3643_3645delinsTGG p.R1215W Missense 18/19 - 1
1-175113572-A-C c.3645A>C p.R1215S Missense 18/19 - 1
1-175113573-G-C c.3646G>C p.D1216H Missense 18/19 - 1
1-175113578-T-C c.3651T>C p.N1217= Synonymous 18/19 - 20
1-175113579-G-A c.3652G>A p.D1218N Missense 18/19 - 6
1-175113579-G-T c.3652G>T p.D1218Y Missense 18/19 - 1
1-175113584-C-T c.3657C>T p.I1219= Synonymous 18/19 - 1
1-175113585-G-A c.3658G>A p.A1220T Missense 18/19 - 4
1-175113589-T-G c.3662T>G p.L1221R Missense 18/19 - 2
1-175113595-A-G c.3668A>G p.N1223S Missense 18/19 - 1
1-175113596-C-T c.3669C>T p.N1223= Synonymous 18/19 - 1
1-175113597-T-C c.3670T>C p.C1224R Missense 18/19 - 1
1-175113600-G-A c.3673G>A p.A1225T Missense 18/19 - 1
1-175113601-C-T c.3674C>T p.A1225V Missense 18/19 - 1
1-175113603-C-A c.3676C>A p.L1226M Missense 18/19 - 1
1-175113607-C-T c.3680C>T p.T1227I Missense 18/19 - 2
1-175113615-G-C c.3688G>C p.G1230R Missense 18/19 - 2
1-175113616-G-A c.3689G>A p.G1230D Missense 18/19 - 2
1-175113616-G-C c.3689G>C p.G1230A Missense 18/19 - 1
1-175113619-G-T c.3692G>T p.G1231V Missense 18/19 - 1
1-175113613-ATGGTGGC-A c.3693_3699del p.W1232Ifs*22 Frameshift 18/19 - 1
1-175113623-G-T c.3696G>T p.W1232C Missense 18/19 - 1
1-175113624-T-A c.3697T>A p.W1233R Missense 18/19 - 1
1-175113624-T-C c.3697T>C p.W1233R Missense 18/19 - 1
1-175113628-A-G c.3701A>G p.Y1234C Missense 18/19 - 1
1-175113632-G-A c.3705G>A p.K1235= Synonymous 18/19 - 1
1-175113634-A-T c.3707A>T p.N1236I Missense 18/19 - 1
1-175113638-C-A c.3711C>A p.C1237* Nonsense 18/19 - 1
1-175113643-T-A c.3716T>A p.L1239* Nonsense 18/19 - 1
1-175113661-G-A c.3734G>A p.R1245K Missense 18/19 - 1
1-175113661-G-C c.3734G>C p.R1245T Missense 18/19 - 3
1-175113662-A-C c.3735A>C p.R1245S Missense 18/19 - 1
1-175113662-A-T c.3735A>T p.R1245S Missense 18/19 - 1
1-175113664-A-G c.3737A>G p.Y1246C Missense 18/19 - 1
1-175113667-G-C c.3740G>C p.G1247A Missense 18/19 - 1
1-175113667-G-T c.3740G>T p.G1247V Missense 18/19 - 2
1-175113668-G-A c.3741G>A p.G1247= Synonymous 18/19 - 8
1-175113668-G-C c.3741G>C p.G1247= Synonymous 18/19 - 4
1-175113668-G-T c.3741G>T p.G1247= Synonymous 18/19 - 4
1-175113675-A-G c.3748A>G p.K1250E Missense 18/19 - 1
1-175113677-G-A c.3750G>A p.K1250= Synonymous 18/19 - 1
1-175113682-G-T c.3755G>T p.S1252I Missense 18/19 - 1
1-175113684-G-A c.3757G>A p.E1253K Missense 18/19 - 3
1-175113687-G-A c.3759+1G>A - IntronicSNV - 18/18 1
1-175113692-T-G c.3759+6T>G - IntronicSNV - 18/18 1
1-175115567-A-C c.3760-500A>C - IntronicSNV - 18/18 2
1-175115567-A-T c.3760-500A>T - IntronicSNV - 18/18 2
1-175116062-G-A c.3760-5G>A - IntronicSNV - 18/18 2
1-175116062-G-C c.3760-5G>C - IntronicSNV - 18/18 2
1-175116062-G-T c.3760-5G>T - IntronicSNV - 18/18 2
1-175116070-G-T c.3763G>T p.V1255L Missense 19/19 - 2
1-175116071-T-G c.3764T>G p.V1255G Missense 19/19 - 6
1-175116072-G-A c.3765G>A p.V1255= Synonymous 19/19 - 1
1-175116073-A-C c.3766A>C p.N1256H Missense 19/19 - 1
1-175116077-G-A c.3770G>A p.W1257* Nonsense 19/19 - 1
1-175116078-G-C c.3771G>C p.W1257C Missense 19/19 - 1
1-175116078-G-T c.3771G>T p.W1257C Missense 19/19 - 1
1-175116080-A-G c.3773A>G p.E1258G Missense 19/19 - 2
1-175116081-G-T c.3774G>T p.E1258D Missense 19/19 - 1
1-175116082-C-T c.3775C>T p.P1259S Missense 19/19 - 1
1-175116086-G-T c.3779G>T p.W1260L Missense 19/19 - 1
1-175116088-A-C c.3781A>C p.K1261Q Missense 19/19 - 1
1-175116091-G-A c.3784G>A p.G1262R Missense 19/19 - 10
1-175116091-G-C c.3784G>C p.G1262R Missense 19/19 - 4
1-175116092-G-C c.3785G>C p.G1262A Missense 19/19 - 1
1-175116094-C-G c.3787C>G p.H1263D Missense 19/19 - 1
1-175116097-G-A c.3790G>A p.E1264K Missense 19/19 - 2
1-175116099-A-C c.3792A>C p.E1264D Missense 19/19 - 1
1-175116099-A-T c.3792A>T p.E1264D Missense 19/19 - 1
1-175116100-T-C c.3793T>C p.F1265L Missense 19/19 - 2
1-175116102-C-A c.3795C>A p.F1265L Missense 19/19 - 2
1-175116102-C-G c.3795C>G p.F1265L Missense 19/19 - 2
1-175116101-T-G c.3794T>G p.F1265C Missense 19/19 - 1
1-175116106-A-C c.3799A>C p.I1267L Missense 19/19 - 1
1-175116109-C-G c.3802C>G p.P1268A Missense 19/19 - 1
1-175116109-C-T c.3802C>T p.P1268S Missense 19/19 - 5
1-175116112-T-C c.3805T>C p.Y1269H Missense 19/19 - 2
1-175116116-T-C c.3809T>C p.V1270A Missense 19/19 - 3
1-175116117-G-A c.3810G>A p.V1270= Synonymous 19/19 - 1
1-175116117-G-C c.3810G>C p.V1270= Synonymous 19/19 - 1
1-175116117-G-T c.3810G>T p.V1270= Synonymous 19/19 - 1
1-175116119-A-T c.3812A>T p.E1271V Missense 19/19 - 4
1-175116123-G-C c.3816G>C p.L1272F Missense 19/19 - 8
1-175116123-G-T c.3816G>T p.L1272F Missense 19/19 - 5
1-175116129-C-A c.3822C>A p.I1274= Synonymous 19/19 - 1
1-175116129-C-G c.3822C>G p.I1274M Missense 19/19 - 3
1-175116129-C-T c.3822C>T p.I1274= Synonymous 19/19 - 1
1-175116130-C-A c.3823C>A p.R1275S Missense 19/19 - 3
1-175116130-C-T c.3823C>T p.R1275C Missense 19/19 - 7
1-175116131-G-A c.3824G>A p.R1275H Missense 19/19 - 3
1-175116132-C-CG c.3825_3826insG p.P1276Afs*161 Frameshift 19/19 - 1
1-175116133-C-T c.3826C>T p.P1276S Missense 19/19 - 2
1-175116139-G-A c.3832G>A p.G1278S Missense 19/19 - 2
1-175116140-G-A c.3833G>A p.G1278D Missense 19/19 - 2
1-175116152-A-G c.3845A>G p.E1282G Missense 19/19 - 2
1-175116153-G-C c.3846G>C p.E1282D Missense 19/19 - 1
1-175116153-G-T c.3846G>T p.E1282D Missense 19/19 - 1
1-175116154-C-A c.3847C>A p.P1283T Missense 19/19 - 1
1-175116161-T-C c.3854T>C p.L1285P Missense 19/19 - 1
1-175116164-G-A c.3857G>A p.G1286D Missense 19/19 - 1
1-175116166-A-T c.3859A>T p.R1287* Nonsense 19/19 - 1
1-175116167-G-A c.3860G>A p.R1287K Missense 19/19 - 1
1-175116170-A-G c.3863A>G p.K1288R Missense 19/19 - 3
1-175116171-G-A c.3864G>A p.K1288= Synonymous 19/19 - 3
1-175116175-C-T c.3868C>T p.R1290W Missense 19/19 - 3
1-175116180-G-A c.3873G>A p.T1291= Synonymous 19/19 - 2
1-175116182-T-A c.3875T>A p.L1292Q Missense 19/19 - 1
1-175116182-T-C c.3875T>C p.L1292P Missense 19/19 - 1
1-175116188-G-T c.3881G>T p.G1294V Missense 19/19 - 1
1-175116191-G-T c.3884G>T p.R1295M Missense 19/19 - 2
1-175116193-C-T c.3886C>T p.L1296= Synonymous 19/19 - 1
1-175116195-G-A c.3888G>A p.L1296= Synonymous 19/19 - 1
1-175116195-G-C c.3888G>C p.L1296= Synonymous 19/19 - 1
1-175116195-G-T c.3888G>T p.L1296= Synonymous 19/19 - 1
1-175116197-G-A c.3890G>A p.R1297Q Missense 19/19 - 3
1-175116252-C-A c.*45C>A - 3-UTRSNV 19/19 - 11
1-175116252-C-G c.*45C>G - 3-UTRSNV 19/19 - 11
1-175116277-T-A c.*70T>A - 3-UTRSNV 19/19 - 1