DNAH11

DNAH11 dynein axonemal heavy chain 11

Annotation transcript: NM_001277115.2

6653 unique variant annotations were identified in 1245 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
7-21582745-C-T c.-119C>T - IntergenicSNV 1/82 - 1
7-21582803-G-A c.-61G>A - IntergenicSNV 1/82 - 1
7-21582803-G-C c.-61G>C - IntergenicSNV 1/82 - 1
7-21582803-G-T c.-61G>T - IntergenicSNV 1/82 - 1
7-21582804-G-A c.-60G>A - IntergenicSNV 1/82 - 1
7-21582837-C-A c.-27C>A - 5-UTRSNV 1/82 - 3
7-21582867-G-A c.4G>A p.A2T Missense 1/82 - 1
7-21582867-G-T c.4G>T p.A2S Missense 1/82 - 2
7-21582868-C-T c.5C>T p.A2V Missense 1/82 - 1
7-21582869-A-C c.6A>C p.A2= Synonymous 1/82 - 1
7-21582869-A-G c.6A>G p.A2= Synonymous 1/82 - 1
7-21582869-A-T c.6A>T p.A2= Synonymous 1/82 - 1
7-21582871-C-T c.8C>T p.A3V Missense 1/82 - 2
7-21582872-C-A c.9C>A p.A3= Synonymous 1/82 - 1
7-21582872-C-G c.9C>G p.A3= Synonymous 1/82 - 1
7-21582872-C-T c.9C>T p.A3= Synonymous 1/82 - 2
7-21582873-CCAG-C c.10_12del p.Q4del InFrameDeletion 1/82 - 1
7-21582875-G-A c.12G>A p.Q4= Synonymous 1/82 - 1
7-21582876-GTG-TTT c.13_15delinsTTT p.V5F Missense 1/82 - 1
7-21582879-G-C c.16G>C p.A6P Missense 1/82 - 1
7-21582879-G-T c.16G>T p.A6S Missense 1/82 - 1
7-21582882-G-T c.19G>T p.A7S Missense 1/82 - 1
7-21582885-CCGG-C c.22_24del p.R8del InFrameDeletion 1/82 - 1
7-21582885-C-G c.22C>G p.R8G Missense 1/82 - 1
7-21582886-G-A c.23G>A p.R8Q Missense 1/82 - 1
7-21582886-G-T c.23G>T p.R8L Missense 1/82 - 1
7-21582888-G-A c.25G>A p.E9K Missense 1/82 - 1
7-21582889-A-G c.26A>G p.E9G Missense 1/82 - 1
7-21582889-A-T c.26A>T p.E9V Missense 1/82 - 1
7-21582891-G-A c.28G>A p.A10T Missense 1/82 - 1
7-21582891-GC-AT c.28_29delinsAT p.A10M Missense 1/82 - 1
7-21582891-GCG-TAT c.28_30delinsTAT p.A10Y Missense 1/82 - 2
7-21582891-GCG-TGT c.28_30delinsTGT p.A10C Missense 1/82 - 1
7-21582891-GC-TG c.28_29delinsTG p.A10W Missense 1/82 - 1
7-21582891-G-T c.28G>T p.A10S Missense 1/82 - 2
7-21582892-C-A c.29C>A p.A10E Missense 1/82 - 1
7-21582892-C-G c.29C>G p.A10G Missense 1/82 - 1
7-21582892-C-T c.29C>T p.A10V Missense 1/82 - 1
7-21582894-C-A c.31C>A p.R11= Synonymous 1/82 - 1
7-21582894-C-T c.31C>T p.R11* Nonsense 1/82 - 2
7-21582896-A-C c.33A>C p.R11= Synonymous 1/82 - 1
7-21582896-A-G c.33A>G p.R11= Synonymous 1/82 - 1
7-21582896-A-T c.33A>T p.R11= Synonymous 1/82 - 1
7-21582894-CGAGACTTCA-C c.36_44del p.D12_R14del InFrameDeletion 1/82 - 1
7-21582899-C-T c.36C>T p.D12= Synonymous 1/82 - 1
7-21582903-A-T c.40A>T p.R14* Nonsense 1/82 - 1
7-21582904-G-C c.41G>C p.R14T Missense 1/82 - 1
7-21582906-G-A c.43G>A p.E15K Missense 1/82 - 1
7-21582906-G-T c.43G>T p.E15* Nonsense 1/82 - 1
7-21582909-GCC-TAA c.46_48delinsTAA p.A16* Nonsense 1/82 - 2
7-21582909-GC-TA c.46_47delinsTA p.A16Y Missense 1/82 - 2
7-21582909-GC-TG c.46_47delinsTG p.A16C Missense 1/82 - 1
7-21582909-GC-TT c.46_47delinsTT p.A16F Missense 1/82 - 2
7-21582910-C-A c.47C>A p.A16D Missense 1/82 - 2
7-21582910-C-T c.47C>T p.A16V Missense 1/82 - 1
7-21582911-C-A c.48C>A p.A16= Synonymous 1/82 - 1
7-21582911-C-G c.48C>G p.A16= Synonymous 1/82 - 1
7-21582911-C-T c.48C>T p.A16= Synonymous 1/82 - 1
7-21582912-C-A c.49C>A p.P17T Missense 1/82 - 1
7-21582912-CCGA-C c.51_53del p.T18del InFrameDeletion 1/82 - 1
7-21582914-G-A c.51G>A p.P17= Synonymous 1/82 - 1
7-21582914-G-C c.51G>C p.P17= Synonymous 1/82 - 1
7-21582914-G-T c.51G>T p.P17= Synonymous 1/82 - 1
7-21582916-C-T c.53C>T p.T18I Missense 1/82 - 1
7-21582917-C-A c.54C>A p.T18= Synonymous 1/82 - 2
7-21582917-C-G c.54C>G p.T18= Synonymous 1/82 - 2
7-21582917-C-T c.54C>T p.T18= Synonymous 1/82 - 13
7-21582921-C-A c.58C>A p.R20S Missense 1/82 - 5
7-21582921-C-G c.58C>G p.R20G Missense 1/82 - 1
7-21582922-G-A c.59G>A p.R20H Missense 1/82 - 2
7-21582923-C-A c.60C>A p.R20= Synonymous 1/82 - 1
7-21582923-C-G c.60C>G p.R20= Synonymous 1/82 - 1
7-21582923-C-T c.60C>T p.R20= Synonymous 1/82 - 1
7-21582924-C-T c.61C>T p.L21= Synonymous 1/82 - 1
7-21582927-A-G c.64A>G p.T22A Missense 1/82 - 1
7-21582928-ACCTCGGGGGCCG-A c.65_76del p.T22_G26delinsS MultiAAMissense 1/82 - 1
7-21582927-ACCT-A c.66_68del p.S23del InFrameDeletion 1/82 - 1
7-21582931-C-T c.68C>T p.S23L Missense 1/82 - 1
7-21582932-G-A c.69G>A p.S23= Synonymous 1/82 - 1
7-21582932-G-C c.69G>C p.S23= Synonymous 1/82 - 1
7-21582932-G-T c.69G>T p.S23= Synonymous 1/82 - 1
7-21582936-G-A c.73G>A p.A25T Missense 1/82 - 4
7-21582936-G-C c.73G>C p.A25P Missense 1/82 - 1
7-21582936-GCC-TAA c.73_75delinsTAA p.A25* Nonsense 1/82 - 1
7-21582937-C-A c.74C>A p.A25D Missense 1/82 - 1
7-21582937-CC-AG c.74_75delinsAG p.A25E Missense 1/82 - 1
7-21582937-C-T c.74C>T p.A25V Missense 1/82 - 1
7-21582942-C-G c.79C>G p.L27V Missense 1/82 - 1
7-21582942-C-T c.79C>T p.L27= Synonymous 1/82 - 1
7-21582945-G-A c.82G>A p.E28K Missense 1/82 - 3
7-21582948-G-A c.85G>A p.A29T Missense 1/82 - 3
7-21582948-GCA-ATG c.85_87delinsATG p.A29M Missense 1/82 - 3
7-21582948-GC-CT c.85_86delinsCT p.A29L Missense 1/82 - 3
7-21582948-G-T c.85G>T p.A29S Missense 1/82 - 1
7-21582949-CA-AC c.86_87delinsAC p.A29D Missense 1/82 - 2
7-21582949-C-T c.86C>T p.A29V Missense 1/82 - 5
7-21582951-G-A c.88G>A p.V30M Missense 1/82 - 4
7-21582951-GTG-ATC c.88_90delinsATC p.V30I Missense 1/82 - 1
7-21582954-G-A c.91G>A p.G31S Missense 1/82 - 1
7-21582957-G-A c.94G>A p.A32T Missense 1/82 - 3
7-21582957-G-T c.94G>T p.A32S Missense 1/82 - 2
7-21582958-C-A c.95C>A p.A32D Missense 1/82 - 1
7-21582958-C-G c.95C>G p.A32G Missense 1/82 - 1
7-21582959-T-C c.96T>C p.A32= Synonymous 1/82 - 1
7-21582960-G-A c.97G>A p.V33M Missense 1/82 - 1
7-21582962-G-A c.99G>A p.V33= Synonymous 1/82 - 2
7-21582962-G-C c.99G>C p.V33= Synonymous 1/82 - 2
7-21582962-G-T c.99G>T p.V33= Synonymous 1/82 - 2
7-21582963-G-A c.100G>A p.E34K Missense 1/82 - 2
7-21582963-GA-CT c.100_101delinsCT p.E34L Missense 1/82 - 8
7-21582963-GA-TT c.100_101delinsTT p.E34L Missense 1/82 - 4
7-21582963-G-T c.100G>T p.E34* Nonsense 1/82 - 25
7-21582964-A-T c.101A>T p.E34V Missense 1/82 - 25
7-21582965-G-A c.102G>A p.E34= Synonymous 1/82 - 1
7-21582967-T-C c.104T>C p.L35P Missense 1/82 - 2
7-21582968-C-T c.105C>T p.L35= Synonymous 1/82 - 1
7-21582970-A-G c.107A>G p.E36G Missense 1/82 - 1
7-21582971-G-A c.108G>A p.E36= Synonymous 1/82 - 1
7-21582971-G-C c.108G>C p.E36D Missense 1/82 - 1
7-21582971-G-T c.108G>T p.E36D Missense 1/82 - 2
7-21582972-G-A c.109G>A p.E37K Missense 1/82 - 1
7-21582972-G-C c.109G>C p.E37Q Missense 1/82 - 1
7-21582977-G-C c.114G>C p.E38D Missense 1/82 - 2
7-21582977-G-T c.114G>T p.E38D Missense 1/82 - 2
7-21582978-G-A c.115G>A p.E39K Missense 1/82 - 2
7-21582980-G-C c.117G>C p.E39D Missense 1/82 - 1
7-21582980-G-T c.117G>T p.E39D Missense 1/82 - 1
7-21582968-CGAG-C c.118_120del p.E40del InFrameDeletion 1/82 - 8
7-21582981-G-A c.118G>A p.E40K Missense 1/82 - 1
7-21582981-G-C c.118G>C p.E40Q Missense 1/82 - 1
7-21582971-GGAGGAGGAGGAGAAC-G c.119_133del p.E40_E44del InFrameDeletion 1/82 - 1
7-21582983-G-C c.120G>C p.E40D Missense 1/82 - 1
7-21582983-G-T c.120G>T p.E40D Missense 1/82 - 2
7-21582984-A-G c.121A>G p.N41D Missense 1/82 - 1
7-21582985-A-G c.122A>G p.N41S Missense 1/82 - 1
7-21582987-G-A c.124G>A p.E42K Missense 1/82 - 2
7-21582987-G-C c.124G>C p.E42Q Missense 1/82 - 1
7-21582987-G-T c.124G>T p.E42* Nonsense 1/82 - 1
7-21582989-G-A c.126G>A p.E42= Synonymous 1/82 - 2
7-21582989-G-C c.126G>C p.E42D Missense 1/82 - 1
7-21582990-G-A c.127G>A p.E43K Missense 1/82 - 5
7-21582990-G-C c.127G>C p.E43Q Missense 1/82 - 1
7-21582990-G-T c.127G>T p.E43* Nonsense 1/82 - 1
7-21582992-G-A c.129G>A p.E43= Synonymous 1/82 - 1
7-21582992-G-C c.129G>C p.E43D Missense 1/82 - 1
7-21582992-G-T c.129G>T p.E43D Missense 1/82 - 2
7-21582993-G-T c.130G>T p.E44* Nonsense 1/82 - 1
7-21582995-G-T c.132G>T p.E44D Missense 1/82 - 1
7-21582996-G-A c.133G>A p.A45T Missense 1/82 - 3
7-21582997-C-A c.134C>A p.A45E Missense 1/82 - 2
7-21582997-C-T c.134C>T p.A45V Missense 1/82 - 1
7-21582999-GC-AA c.136_137delinsAA p.A46K Missense 1/82 - 1
7-21582999-GC-AT c.136_137delinsAT p.A46M Missense 1/82 - 1
7-21582999-GC-CT c.136_137delinsCT p.A46L Missense 1/82 - 2
7-21582999-GCG-AAC c.136_138delinsAAC p.A46N Missense 1/82 - 1
7-21583000-C-T c.137C>T p.A46V Missense 1/82 - 1
7-21583001-G-A c.138G>A p.A46= Synonymous 1/82 - 1
7-21583001-G-C c.138G>C p.A46= Synonymous 1/82 - 1
7-21583001-G-T c.138G>T p.A46= Synonymous 1/82 - 1
7-21583002-G-T c.139G>T p.A47S Missense 1/82 - 1
7-21583004-C-A c.141C>A p.A47= Synonymous 1/82 - 1
7-21583004-C-G c.141C>G p.A47= Synonymous 1/82 - 1
7-21583004-C-T c.141C>T p.A47= Synonymous 1/82 - 1
7-21583005-AG-CA c.142_143delinsCA p.R48Q Missense 1/82 - 1
7-21583006-G-A c.143G>A p.R48K Missense 1/82 - 2
7-21583006-G-C c.143G>C p.R48T Missense 1/82 - 1
7-21583009-GA-TG c.146_147delinsTG p.R49M Missense 1/82 - 1
7-21583011-G-A c.148G>A p.A50T Missense 1/82 - 3
7-21583011-GCG-TAT c.148_150delinsTAT p.A50Y Missense 1/82 - 1
7-21583011-G-T c.148G>T p.A50S Missense 1/82 - 1
7-21583012-C-T c.149C>T p.A50V Missense 1/82 - 1
7-21583012-GCGC-G c.149_151del p.A50_R51delinsG MultiAAMissense 1/82 - 1
7-21583013-G-A c.150G>A p.A50= Synonymous 1/82 - 1
7-21583013-G-C c.150G>C p.A50= Synonymous 1/82 - 1
7-21583013-G-T c.150G>T p.A50= Synonymous 1/82 - 1
7-21583014-C-A c.151C>A p.R51= Synonymous 1/82 - 2
7-21583014-C-G c.151C>G p.R51G Missense 1/82 - 2
7-21583014-C-T c.151C>T p.R51W Missense 1/82 - 2
7-21583016-G-A c.153G>A p.R51= Synonymous 1/82 - 2
7-21583016-G-C c.153G>C p.R51= Synonymous 1/82 - 3
7-21583016-G-T c.153G>T p.R51= Synonymous 1/82 - 2
7-21583015-G-A c.152G>A p.R51Q Missense 1/82 - 2
7-21583015-G-C c.152G>C p.R51P Missense 1/82 - 1
7-21583017-A-T c.154A>T p.S52C Missense 1/82 - 1
7-21583020-T-C c.157T>C p.F53L Missense 1/82 - 1
7-21583022-C-A c.159C>A p.F53L Missense 1/82 - 1
7-21583022-C-G c.159C>G p.F53L Missense 1/82 - 1
7-21583021-T-C c.158T>C p.F53S Missense 1/82 - 1
7-21583023-G-A c.160G>A p.A54T Missense 1/82 - 2
7-21583026-C-T c.163C>T p.Q55* Nonsense 1/82 - 1
7-21583027-A-G c.164A>G p.Q55R Missense 1/82 - 1
7-21583029-G-A c.166G>A p.D56N Missense 1/82 - 1
7-21583031-C-G c.168C>G p.D56E Missense 1/82 - 1
7-21583032-G-A c.169G>A p.A57T Missense 1/82 - 1
7-21583035-C-G c.172C>G p.R58G Missense 1/82 - 1
7-21583035-CG-AA c.172_173delinsAA p.R58K Missense 1/82 - 1
7-21583035-CG-TA c.172_173delinsTA p.R58* Nonsense 1/82 - 1
7-21583035-C-T c.172C>T p.R58W Missense 1/82 - 1
7-21583036-G-A c.173G>A p.R58Q Missense 1/82 - 1
7-21583036-G-T c.173G>T p.R58L Missense 1/82 - 1
7-21583037-G-A c.174G>A p.R58= Synonymous 1/82 - 1
7-21583037-G-T c.174G>T p.R58= Synonymous 1/82 - 1
7-21583039-TG-AC c.176_177delinsAC p.V59D Missense 1/82 - 1
7-21583041-CGC-AAG c.178_180delinsAAG p.R60K Missense 1/82 - 1
7-21583041-C-T c.178C>T p.R60C Missense 1/82 - 2
7-21583042-G-A c.179G>A p.R60H Missense 1/82 - 1
7-21583042-G-C c.179G>C p.R60P Missense 1/82 - 1
7-21583044-T-G c.181T>G p.F61V Missense 1/82 - 1
7-21583049-C-G c.186C>G p.L62= Synonymous 1/82 - 1
7-21583050-G-A c.187G>A p.G63S Missense 1/82 - 1
7-21583050-G-T c.187G>T p.G63C Missense 1/82 - 1
7-21583054-G-A c.191G>A p.G64D Missense 1/82 - 1
7-21583054-G-C c.191G>C p.G64A Missense 1/82 - 1
7-21583056-C-A c.193C>A p.R65S Missense 1/82 - 1
7-21583056-CGC-TGG c.193_195delinsTGG p.R65W Missense 1/82 - 1
7-21583058-C-A c.195C>A p.R65= Synonymous 1/82 - 1
7-21583058-C-G c.195C>G p.R65= Synonymous 1/82 - 1
7-21583058-C-T c.195C>T p.R65= Synonymous 1/82 - 1
7-21583060-T-A c.197T>A p.L66Q Missense 1/82 - 1
7-21583060-T-C c.197T>C p.L66P Missense 1/82 - 1
7-21583061-G-T c.198G>T p.L66= Synonymous 1/82 - 1
7-21583062-G-C c.199G>C p.A67P Missense 1/82 - 1
7-21583062-GC-AT c.199_200delinsAT p.A67M Missense 1/82 - 1
7-21583063-C-T c.200C>T p.A67V Missense 1/82 - 1
7-21583064-G-T c.201G>T p.A67= Synonymous 1/82 - 1
7-21583067-G-C c.204G>C p.M68I Missense 1/82 - 1
7-21583071-C-T c.208C>T p.L70= Synonymous 1/82 - 3
7-21583073-G-A c.210G>A p.L70= Synonymous 1/82 - 3
7-21583073-G-C c.210G>C p.L70= Synonymous 1/82 - 3
7-21583073-G-T c.210G>T p.L70= Synonymous 1/82 - 3
7-21583076-G-C c.213G>C p.G71= Synonymous 1/82 - 1
7-21583077-T-C c.214T>C p.F72L Missense 1/82 - 2
7-21583079-C-A c.216C>A p.F72L Missense 1/82 - 2
7-21583079-C-G c.216C>G p.F72L Missense 1/82 - 2
7-21583079-C-T c.216C>T p.F72= Synonymous 1/82 - 2
7-21583082-G-A c.219G>A p.T73= Synonymous 1/82 - 1
7-21583082-G-C c.219G>C p.T73= Synonymous 1/82 - 1
7-21583082-G-T c.219G>T p.T73= Synonymous 1/82 - 1
7-21583083-G-A c.220G>A p.E74K Missense 1/82 - 1
7-21583083-GAG-TGT c.220_222delinsTGT p.E74C Missense 1/82 - 1
7-21583083-G-C c.220G>C p.E74Q Missense 1/82 - 1
7-21583083-G-T c.220G>T p.E74* Nonsense 1/82 - 1
7-21583084-A-G c.221A>G p.E74G Missense 1/82 - 1
7-21583086-G-A c.223G>A p.E75K Missense 1/82 - 1
7-21583086-G-T c.223G>T p.E75* Nonsense 1/82 - 1
7-21583088-G-C c.225G>C p.E75D Missense 1/82 - 1
7-21583088-G-T c.225G>T p.E75D Missense 1/82 - 1
7-21583090-A-G c.227A>G p.K76R Missense 1/82 - 1
7-21583092-T-C c.229T>C p.W77R Missense 1/82 - 1
7-21583093-G-T c.230G>T p.W77L Missense 1/82 - 1
7-21583094-G-C c.231G>C p.W77C Missense 1/82 - 1
7-21583094-G-T c.231G>T p.W77C Missense 1/82 - 1
7-21583098-C-T c.235C>T p.Q79* Nonsense 1/82 - 1
7-21583102-A-G c.239A>G p.Y80C Missense 1/82 - 1
7-21583103-T-G c.240T>G p.Y80* Nonsense 1/82 - 1
7-21583109-A-G c.246A>G p.E82= Synonymous 1/82 - 1
7-21583111-G-T c.248G>T p.S83I Missense 1/82 - 1
7-21583113-G-A c.250G>A p.E84K Missense 1/82 - 1
7-21583113-G-T c.250G>T p.E84* Nonsense 1/82 - 1
7-21583117-A-G c.254A>G p.D85G Missense 1/82 - 1
7-21583118-C-T c.255C>T p.D85= Synonymous 1/82 - 1
7-21583122-C-A c.259C>A p.R87= Synonymous 1/82 - 1
7-21583122-CGG-TGT c.259_261delinsTGT p.R87C Missense 1/82 - 1
7-21583126-A-G c.263A>G p.Q88R Missense 1/82 - 1
7-21583126-A-T c.263A>T p.Q88L Missense 1/82 - 1
7-21583126-CAGG-C c.263_265del p.Q88_V89delinsL MultiAAMissense 1/82 - 1
7-21583127-G-C c.264G>C p.Q88H Missense 1/82 - 1
7-21583127-G-T c.264G>T p.Q88H Missense 1/82 - 2
7-21583131-C-A c.268C>A p.L90I Missense 1/82 - 2
7-21583133-T-A c.270T>A p.L90= Synonymous 1/82 - 1
7-21583133-T-C c.270T>C p.L90= Synonymous 1/82 - 1
7-21583133-T-G c.270T>G p.L90= Synonymous 1/82 - 1
7-21583134-G-A c.271G>A p.G91R Missense 1/82 - 2
7-21583134-GGG-AGC c.271_273delinsAGC p.G91S Missense 1/82 - 1
7-21583135-G-A c.272G>A p.G91E Missense 1/82 - 1
7-21583135-G-T c.272G>T p.G91V Missense 1/82 - 1
7-21583136-G-A c.273G>A p.G91= Synonymous 1/82 - 1
7-21583136-G-C c.273G>C p.G91= Synonymous 1/82 - 1
7-21583136-G-T c.273G>T p.G91= Synonymous 1/82 - 1
7-21583137-G-A c.274G>A p.E92K Missense 1/82 - 1
7-21583137-G-C c.274G>C p.E92Q Missense 1/82 - 2
7-21583143-C-T c.280C>T p.L94= Synonymous 1/82 - 2
7-21583143-CT-TA c.280_281delinsTA p.L94* Nonsense 1/82 - 1
7-21583145-G-T c.282G>T p.L94= Synonymous 1/82 - 1
7-21583146-G-A c.283G>A p.E95K Missense 1/82 - 2
7-21583148-A-G c.285A>G p.E95= Synonymous 1/82 - 1
7-21583149-A-G c.286A>G p.S96G Missense 1/82 - 2
7-21583150-G-T c.287G>T p.S96I Missense 1/82 - 2
7-21583151-C-T c.288C>T p.S96= Synonymous 1/82 - 1
7-21583152-A-T c.289A>T p.T97S Missense 1/82 - 1
7-21583153-C-A c.290C>A p.T97N Missense 1/82 - 2
7-21583153-C-T c.290C>T p.T97I Missense 1/82 - 4
7-21583154-C-A c.291C>A p.T97= Synonymous 1/82 - 1
7-21583154-C-G c.291C>G p.T97= Synonymous 1/82 - 1
7-21583154-C-T c.291C>T p.T97= Synonymous 1/82 - 1
7-21583155-AG-CC c.292_293delinsCC p.S98P Missense 1/82 - 1
7-21583158-C-T c.295C>T p.P99S Missense 1/82 - 1
7-21583165-TGCC-T c.302_304del p.C101_L102delinsF MultiAAMissense 1/82 - 1
7-21583168-T-C c.305T>C p.L102P Missense 1/82 - 1
7-21583170-G-A c.307G>A p.V103M Missense 1/82 - 1
7-21583170-G-T c.307G>T p.V103L Missense 1/82 - 1
7-21583170-GTG-TTT c.307_309delinsTTT p.V103F Missense 1/82 - 1
7-21583171-T-A c.308T>A p.V103E Missense 1/82 - 1
7-21583173-T-C c.310T>C p.F104L Missense 1/82 - 1
7-21583176-A-G c.313A>G p.S105G Missense 1/82 - 1
7-21583176-AG-CT c.313_314inv p.S105L Missense 1/82 - 1
7-21583176-AG-TT c.313_314delinsTT p.S105F Missense 1/82 - 1
7-21583176-A-T c.313A>T p.S105C Missense 1/82 - 1
7-21583177-G-T c.314G>T p.S105I Missense 1/82 - 1
7-21583181-C-T c.318C>T p.F106= Synonymous 1/82 - 1
7-21583182-G-A c.319G>A p.A107T Missense 1/82 - 1
7-21583182-G-T c.319G>T p.A107S Missense 1/82 - 1
7-21583183-C-G c.320C>G p.A107G Missense 1/82 - 2
7-21583183-C-T c.320C>T p.A107V Missense 1/82 - 1
7-21583184-C-A c.321C>A p.A107= Synonymous 1/82 - 2
7-21583184-C-G c.321C>G p.A107= Synonymous 1/82 - 1
7-21583184-C-T c.321C>T p.A107= Synonymous 1/82 - 2
7-21583188-T-A c.325T>A p.S109T Missense 1/82 - 1
7-21583189-C-T c.326C>T p.S109L Missense 1/82 - 1
7-21583190-G-A c.327G>A p.S109= Synonymous 1/82 - 1
7-21583191-G-A c.328G>A p.G110R Missense 1/82 - 1
7-21583191-G-C c.328G>C p.G110R Missense 1/82 - 1
7-21583193-G-A c.330G>A p.G110= Synonymous 1/82 - 2
7-21583193-G-C c.330G>C p.G110= Synonymous 1/82 - 1
7-21583193-G-T c.330G>T p.G110= Synonymous 1/82 - 1
7-21583194-C-A c.331C>A p.R111S Missense 1/82 - 2
7-21583194-CGC-AAG c.331_333delinsAAG p.R111K Missense 1/82 - 1
7-21583194-C-T c.331C>T p.R111C Missense 1/82 - 3
7-21583196-C-A c.333C>A p.R111= Synonymous 1/82 - 1
7-21583196-C-G c.333C>G p.R111= Synonymous 1/82 - 1
7-21583196-C-T c.333C>T p.R111= Synonymous 1/82 - 1
7-21583197-C-T c.334C>T p.L112F Missense 1/82 - 1
7-21583197-CT-TC c.334_335delinsTC p.L112S Missense 1/82 - 1
7-21583198-T-C c.335T>C p.L112P Missense 1/82 - 1
7-21583201-C-A c.338C>A p.A113E Missense 1/82 - 1
7-21583201-C-T c.338C>T p.A113V Missense 1/82 - 3
7-21583203-G-T c.340G>T p.A114S Missense 1/82 - 2
7-21583204-C-T c.341C>T p.A114V Missense 1/82 - 1
7-21583209-C-G c.346C>G p.Q116E Missense 1/82 - 1
7-21583209-C-T c.346C>T p.Q116* Nonsense 1/82 - 2
7-21583212-G-A c.349G>A p.E117K Missense 1/82 - 2
7-21583212-G-T c.349G>T p.E117* Nonsense 1/82 - 2
7-21583213-A-T c.350A>T p.E117V Missense 1/82 - 3
7-21583214-G-C c.351G>C p.E117D Missense 1/82 - 1
7-21583214-G-T c.351G>T p.E117D Missense 1/82 - 1
7-21583257-T-C c.351+43T>C - IntronicSNV - 1/81 1
7-21583282-T-G c.351+68T>G - IntronicSNV - 1/81 6
7-21583329-T-C c.351+115T>C - IntronicSNV - 1/81 1
7-21584088-G-A c.352-536G>A - IntronicSNV - 1/81 19
7-21584243-G-A c.352-381G>A - IntronicSNV - 1/81 1
7-21584243-G-T c.352-381G>T - IntronicSNV - 1/81 1
7-21584624-A-G c.352A>G p.I118V Missense 2/82 - 2
7-21584624-GATTCCAAGAGATGCAAACCATAAA-G c.352_375del p.I118_K125del SpliceAcceptorDeletion 2/82 - 1
7-21584625-T-C c.353T>C p.I118T Missense 2/82 - 1
7-21584626-T-G c.354T>G p.I118M Missense 2/82 - 1
7-21584627-C-T c.355C>T p.P119S Missense 2/82 - 2
7-21584629-A-C c.357A>C p.P119= Synonymous 2/82 - 1
7-21584629-A-G c.357A>G p.P119= Synonymous 2/82 - 1
7-21584629-A-T c.357A>T p.P119= Synonymous 2/82 - 1
7-21584631-G-C c.359G>C p.R120T Missense 2/82 - 1
7-21584633-G-T c.361G>T p.D121Y Missense 2/82 - 1
7-21584636-G-C c.364G>C p.A122P Missense 2/82 - 1
7-21584637-C-A c.365C>A p.A122E Missense 2/82 - 2
7-21584637-C-T c.365C>T p.A122V Missense 2/82 - 2
7-21584643-A-AT c.372dup p.K125* Nonsense 2/82 - 1
7-21584647-A-T c.375A>T p.K125N Missense 2/82 - 1
7-21584649-TT-AA c.377_378inv p.L126Q Missense 2/82 - 1
7-21584657-A-G c.385A>G p.I129V Missense 2/82 - 1
7-21584660-T-C c.388T>C p.S130P Missense 2/82 - 1
7-21584661-C-T c.389C>T p.S130F Missense 2/82 - 3
7-21584664-A-C c.392A>C p.K131T Missense 2/82 - 1
7-21584665-G-A c.393G>A p.K131= Synonymous 2/82 - 1
7-21584665-G-C c.393G>C p.K131N Missense 2/82 - 1
7-21584665-G-GT c.393_394insT p.K132* Nonsense 2/82 - 1
7-21584665-G-T c.393G>T p.K131N Missense 2/82 - 1
7-21584666-A-T c.394A>T p.K132* Nonsense 2/82 - 1
7-21584662-CAAG-C c.395_397del p.K132del InFrameDeletion 2/82 - 1
7-21584667-A-G c.395A>G p.K132R Missense 2/82 - 3
7-21584668-G-C c.396G>C p.K132N Missense 2/82 - 1
7-21584670-TT-AG c.398_399delinsAG p.I133K Missense 2/82 - 1
7-21584675-G-T c.403G>T p.E135* Nonsense 2/82 - 1
7-21584678-A-T c.406A>T p.S136C Missense 2/82 - 1
7-21584679-G-A c.407G>A p.S136N Missense 2/82 - 2
7-21584680-C-G c.408C>G p.S136R Missense 2/82 - 1
7-21584682-T-C c.410T>C p.I137T Missense 2/82 - 1
7-21584684-G-T c.412G>T p.G138* Nonsense 2/82 - 1
7-21584685-G-A c.413G>A p.G138E Missense 2/82 - 2
7-21584685-GA-AC c.413_414delinsAC p.G138D Missense 2/82 - 1
7-21584687-AGTAAATGAC-A c.415_423del p.V139_D141del InFrameDeletion 2/82 - 1
7-21584687-G-A c.415G>A p.V139I Missense 2/82 - 2
7-21584687-G-C c.415G>C p.V139L Missense 2/82 - 1
7-21584689-A-T c.417A>T p.V139= Synonymous 2/82 - 1
7-21584691-A-G c.419A>G p.N140S Missense 2/82 - 1
7-21584692-T-C c.420T>C p.N140= Synonymous 2/82 - 2
7-21584693-G-C c.421G>C p.D141H Missense 2/82 - 1
7-21584693-G-T c.421G>T p.D141Y Missense 2/82 - 4
7-21584694-A-G c.422A>G p.D141G Missense 2/82 - 1
7-21584696-T-C c.424T>C p.F142L Missense 2/82 - 2
7-21584698-T-A c.426T>A p.F142L Missense 2/82 - 2
7-21584698-T-G c.426T>G p.F142L Missense 2/82 - 2
7-21584697-T-A c.425T>A p.F142Y Missense 2/82 - 2
7-21584699-TTCTC-T c.427_430del p.S143Kfs*24 Frameshift 2/82 - 1
7-21584702-C-A c.430C>A p.Q144K Missense 2/82 - 1
7-21584704-AAGT-A c.432_434del p.V146del InFrameDeletion 2/82 - 1
7-21584706-T-A c.434T>A p.V145E Missense 2/82 - 1
7-21584706-T-C c.434T>C p.V145A Missense 2/82 - 1
7-21584707-G-A c.435G>A p.V145= Synonymous 2/82 - 1
7-21584707-G-C c.435G>C p.V145= Synonymous 2/82 - 1
7-21584707-G-T c.435G>T p.V145= Synonymous 2/82 - 1
7-21584708-G-T c.436G>T p.V146F Missense 2/82 - 1
7-21584713-A-C c.441A>C p.L147F Missense 2/82 - 1
7-21584713-A-T c.441A>T p.L147F Missense 2/82 - 1
7-21584716-T-C c.444T>C p.F148= Synonymous 2/82 - 1
7-21584716-T-G c.444T>G p.F148L Missense 2/82 - 1
7-21584717-G-A c.445G>A p.G149R Missense 2/82 - 1
7-21584718-G-A c.446G>A p.G149E Missense 2/82 - 1
7-21584718-GA-AC c.446_447delinsAC p.G149D Missense 2/82 - 1
7-21584718-G-T c.446G>T p.G149V Missense 2/82 - 1
7-21584720-G-A c.448G>A p.E150K Missense 2/82 - 1
7-21584722-G-C c.450G>C p.E150D Missense 2/82 - 1
7-21584723-T-C c.451T>C p.L151= Synonymous 2/82 - 1
7-21584725-A-G c.453A>G p.L151= Synonymous 2/82 - 1
7-21584724-T-A c.452T>A p.L151* Nonsense 2/82 - 1
7-21584727-C-G c.455C>G p.P152R Missense 2/82 - 2
7-21584729-G-T c.457G>T p.A153S Missense 2/82 - 2
7-21584730-C-T c.458C>T p.A153V Missense 2/82 - 1
7-21584731-G-A c.459G>A p.A153= Synonymous 2/82 - 1
7-21584732-T-C c.460T>C p.L154= Synonymous 2/82 - 1
7-21584734-G-A c.462G>A p.L154= Synonymous 2/82 - 1
7-21584736-C-A c.464C>A p.S155Y Missense 2/82 - 1
7-21584737-T-A c.465T>A p.S155= Synonymous 2/82 - 2
7-21584737-T-C c.465T>C p.S155= Synonymous 2/82 - 3
7-21584737-T-G c.465T>G p.S155= Synonymous 2/82 - 2
7-21584740-TG-T c.470del p.G157Dfs*11 Frameshift 2/82 - 1
7-21584744-C-A c.472C>A p.H158N Missense 2/82 - 1
7-21584746-T-A c.474T>A p.H158Q Missense 2/82 - 2
7-21584746-T-C c.474T>C p.H158= Synonymous 2/82 - 1
7-21584746-T-G c.474T>G p.H158Q Missense 2/82 - 1
7-21584747-G-A c.475G>A p.V159I Missense 2/82 - 1
7-21584750-ATCT-A c.478_480del p.S160del InFrameDeletion 2/82 - 1
7-21584750-T-C c.478T>C p.S160P Missense 2/82 - 2
7-21584751-C-T c.479C>T p.S160F Missense 2/82 - 1
7-21584753-G-T c.481G>T p.A161S Missense 2/82 - 1
7-21584758-C-T c.486C>T p.F162= Synonymous 2/82 - 1
7-21584761-T-G c.489T>G p.L163= Synonymous 2/82 - 1
7-21584762-G-A c.490G>A p.D164N Missense 2/82 - 3
7-21584762-G-T c.490G>T p.D164Y Missense 2/82 - 1
7-21584767-G-C c.495G>C p.E165D Missense 2/82 - 1
7-21584767-G-T c.495G>T p.E165D Missense 2/82 - 1
7-21584768-G-T c.495+1G>T - IntronicSNV - 2/81 1
7-21584769-T-C c.495+2T>C - IntronicSNV - 2/81 1
7-21584820-A-G c.495+53A>G - IntronicSNV - 2/81 4
7-21584888-T-G c.495+121T>G - IntronicSNV - 2/81 1
7-21584892-T-A c.495+125T>A - IntronicSNV - 2/81 2
7-21585091-T-C c.495+324T>C - IntronicSNV - 2/81 2
7-21586595-C-T c.495+1828C>T - IntronicSNV - 2/81 1
7-21588216-T-C c.495+3449T>C - IntronicSNV - 2/81 1
7-21589243-A-C c.495+4476A>C - IntronicSNV - 2/81 1
7-21589243-A-G c.495+4476A>G - IntronicSNV - 2/81 1
7-21589903-C-G c.495+5136C>G - IntronicSNV - 2/81 1
7-21589903-C-T c.495+5136C>T - IntronicSNV - 2/81 1
7-21590105-G-C c.495+5338G>C - IntronicSNV - 2/81 1
7-21590105-G-T c.495+5338G>T - IntronicSNV - 2/81 1
7-21590136-T-C c.495+5369T>C - IntronicSNV - 2/81 1
7-21591664-G-A c.496-6756G>A - IntronicSNV - 2/81 1
7-21592973-A-G c.496-5447A>G - IntronicSNV - 2/81 1
7-21593529-A-ATT c.496-4883_496-4882dup - IntronicInsertion - 2/81 1
7-21593529-A-AT c.496-4882dup - IntronicInsertion - 2/81 1
7-21596876-G-C c.496-1544G>C - IntronicSNV - 2/81 1
7-21596876-G-T c.496-1544G>T - IntronicSNV - 2/81 1
7-21598254-T-C c.496-166T>C - IntronicSNV - 2/81 1
7-21598312-G-GGAT c.496-107_496-105dup - IntronicInsertion - 2/81 1
7-21598313-G-GGAT c.496-107_496-106insGAT - IntronicInsertion - 2/81 1
7-21598420-A-G c.496A>G p.I166V Missense 3/82 - 1
7-21598421-T-C c.497T>C p.I166T Missense 3/82 - 1
7-21598422-T-A c.498T>A p.I166= Synonymous 3/82 - 1
7-21598422-T-C c.498T>C p.I166= Synonymous 3/82 - 1
7-21598423-T-C c.499T>C p.L167= Synonymous 3/82 - 1
7-21598423-TTTA-T c.499_501del p.L167del InFrameDeletion 3/82 - 1
7-21598425-A-G c.501A>G p.L167= Synonymous 3/82 - 1
7-21598425-A-C c.501A>C p.L167F Missense 3/82 - 1
7-21598426-G-A c.502G>A p.V168M Missense 3/82 - 2
7-21598427-T-C c.503T>C p.V168A Missense 3/82 - 2
7-21598429-C-T c.505C>T p.P169S Missense 3/82 - 1
7-21598432-AG-A c.508del p.V170Ffs*23 Frameshift 3/82 - 1
7-21598432-G-A c.508G>A p.V170I Missense 3/82 - 3
7-21598437-T-A c.513T>A p.L171= Synonymous 3/82 - 1
7-21598437-T-C c.513T>C p.L171= Synonymous 3/82 - 1
7-21598437-T-G c.513T>G p.L171= Synonymous 3/82 - 1
7-21598438-TC-CT c.514_515delinsCT p.S172L Missense 3/82 - 1
7-21598439-C-T c.515C>T p.S172F Missense 3/82 - 1
7-21598444-A-T c.520A>T p.K174* Nonsense 3/82 - 1
7-21598445-A-G c.521A>G p.K174R Missense 3/82 - 1
7-21598446-G-A c.522G>A p.K174= Synonymous 3/82 - 1
7-21598449-C-T c.525C>T p.N175= Synonymous 3/82 - 1
7-21598453-C-A c.529C>A p.H177N Missense 3/82 - 1
7-21598456-A-G c.532A>G p.K178E Missense 3/82 - 1
7-21598457-A-T c.533A>T p.K178M Missense 3/82 - 1
7-21598459-T-C c.535T>C p.S179P Missense 3/82 - 1
7-21598460-C-A c.536C>A p.S179Y Missense 3/82 - 1
7-21598460-C-T c.536C>T p.S179F Missense 3/82 - 1
7-21598463-G-A c.539G>A p.W180* Nonsense 3/82 - 1
7-21598465-T-C c.541T>C p.S181P Missense 3/82 - 1
7-21598468-T-C c.544T>C p.C182R Missense 3/82 - 1
7-21598471-T-C c.547T>C p.F183L Missense 3/82 - 1
7-21598473-T-A c.549T>A p.F183L Missense 3/82 - 1
7-21598473-T-G c.549T>G p.F183L Missense 3/82 - 1
7-21598476-T-A c.552T>A p.T184= Synonymous 3/82 - 1
7-21598476-T-C c.552T>C p.T184= Synonymous 3/82 - 1
7-21598476-T-G c.552T>G p.T184= Synonymous 3/82 - 1
7-21598478-C-T c.554C>T p.S185L Missense 3/82 - 1
7-21598479-A-G c.555A>G p.S185= Synonymous 3/82 - 1
7-21598480-C-T c.556C>T p.Q186* Nonsense 3/82 - 1
7-21598482-A-C c.558A>C p.Q186H Missense 3/82 - 3
7-21598482-A-T c.558A>T p.Q186H Missense 3/82 - 4
7-21598483-G-C c.559G>C p.D187H Missense 3/82 - 1
7-21598486-A-G c.562A>G p.M188V Missense 3/82 - 1
7-21598489-G-A c.565G>A p.E189K Missense 3/82 - 4
7-21598489-G-T c.565G>T p.E189* Nonsense 3/82 - 2
7-21598494-T-TC c.571dup p.H191Pfs*13 Frameshift 3/82 - 1
7-21598495-C-G c.571C>G p.H191D Missense 3/82 - 1
7-21598495-C-T c.571C>T p.H191Y Missense 3/82 - 2
7-21598496-A-G c.572A>G p.H191R Missense 3/82 - 1
7-21598497-AC-A c.573del p.H191Qfs*2 Frameshift 3/82 - 1
7-21598497-C-A c.573C>A p.H191Q Missense 3/82 - 1
7-21598498-A-G c.574A>G p.I192V Missense 3/82 - 2
7-21598499-T-C c.575T>C p.I192T Missense 3/82 - 1
7-21598500-A-C c.576A>C p.I192= Synonymous 3/82 - 3
7-21598500-A-G c.576A>G p.I192M Missense 3/82 - 12
7-21598500-A-T c.576A>T p.I192= Synonymous 3/82 - 2
7-21598503-A-C c.579A>C p.E193D Missense 3/82 - 2
7-21598503-A-T c.579A>T p.E193D Missense 3/82 - 1
7-21598507-A-G c.583A>G p.M195V Missense 3/82 - 2
7-21598510-A-C c.586A>C p.K196Q Missense 3/82 - 1
7-21598509-GAAA-G c.588_590del p.K198del InFrameDeletion 3/82 - 1
7-21598514-A-C c.590A>C p.K197T Missense 3/82 - 1
7-21598515-G-A c.591G>A p.K197= Synonymous 3/82 - 1
7-21598516-A-G c.592A>G p.K198E Missense 3/82 - 1
7-21598512-AAAG-A c.593_595del p.K198del InFrameDeletion 3/82 - 1
7-21598521-G-A c.597G>A p.M199I Missense 3/82 - 1
7-21598521-G-C c.597G>C p.M199I Missense 3/82 - 1
7-21598521-G-T c.597G>T p.M199I Missense 3/82 - 1
7-21598522-T-C c.598T>C p.Y200H Missense 3/82 - 4
7-21598523-A-G c.599A>G p.Y200C Missense 3/82 - 1
7-21598524-T-A c.600T>A p.Y200* Nonsense 3/82 - 1
7-21598524-T-G c.600T>G p.Y200* Nonsense 3/82 - 1
7-21598526-T-C c.602T>C p.I201T Missense 3/82 - 1
7-21598530-T-C c.606T>C p.F202= Synonymous 3/82 - 1
7-21598531-A-G c.607A>G p.R203G Missense 3/82 - 1
7-21598531-AG-CT c.607_608inv p.R203L Missense 3/82 - 1
7-21598531-AG-TA c.607_608delinsTA p.R203* Nonsense 3/82 - 1
7-21598533-G-C c.609G>C p.R203S Missense 3/82 - 1
7-21598533-G-T c.609G>T p.R203S Missense 3/82 - 1
7-21598534-G-C c.610G>C p.G204R Missense 3/82 - 1
7-21598535-G-A c.611G>A p.G204D Missense 3/82 - 1
7-21598535-G-T c.611G>T p.G204V Missense 3/82 - 1
7-21598537-A-G c.613A>G p.K205E Missense 3/82 - 5
7-21598539-A-G c.615A>G p.K205= Synonymous 3/82 - 1
7-21598539-A-T c.615A>T p.K205N Missense 3/82 - 1
7-21598542-G-A c.618G>A p.M206I Missense 3/82 - 2
7-21598542-G-C c.618G>C p.M206I Missense 3/82 - 2
7-21598542-G-T c.618G>T p.M206I Missense 3/82 - 2
7-21598544-C-G c.620C>G p.S207C Missense 3/82 - 1
7-21598544-C-T c.620C>T p.S207F Missense 3/82 - 2
7-21598546-AG-CA c.622_623delinsCA p.R208Q Missense 3/82 - 1
7-21598547-G-T c.623G>T p.R208I Missense 3/82 - 1
7-21598549-AGA-TGT c.625_627delinsTGT p.R209C Missense 3/82 - 1
7-21598549-A-T c.625A>T p.R209* Nonsense 3/82 - 1
7-21598550-G-C c.626G>C p.R209T Missense 3/82 - 1
7-21598550-G-T c.626G>T p.R209I Missense 3/82 - 4
7-21598553-C-A c.629C>A p.T210N Missense 3/82 - 1
7-21598553-C-G c.629C>G p.T210S Missense 3/82 - 1
7-21598553-C-T c.629C>T p.T210I Missense 3/82 - 1
7-21598554-T-G c.630T>G p.T210= Synonymous 3/82 - 1
7-21598555-C-G c.631C>G p.L211V Missense 3/82 - 1
7-21598555-C-T c.631C>T p.L211F Missense 3/82 - 2
7-21598557-T-A c.633T>A p.L211= Synonymous 3/82 - 1
7-21598557-T-C c.633T>C p.L211= Synonymous 3/82 - 1
7-21598557-T-G c.633T>G p.L211= Synonymous 3/82 - 1
7-21598558-TC-T c.634del p.L212Yfs*27 Frameshift 3/82 - 1
7-21598558-C-T c.634C>T p.L212= Synonymous 3/82 - 1
7-21598560-A-C c.636A>C p.L212= Synonymous 3/82 - 1
7-21598560-A-G c.636A>G p.L212= Synonymous 3/82 - 1
7-21598560-A-T c.636A>T p.L212= Synonymous 3/82 - 1
7-21598561-C-A c.637C>A p.P213T Missense 3/82 - 1
7-21598561-C-T c.637C>T p.P213S Missense 3/82 - 1
7-21598562-C-A c.638C>A p.P213Q Missense 3/82 - 2
7-21598564-A-G c.640A>G p.I214V Missense 3/82 - 6
7-21598565-T-G c.641T>G p.I214S Missense 3/82 - 1
7-21598566-T-C c.642T>C p.I214= Synonymous 3/82 - 1
7-21598567-C-T c.643C>T p.P215S Missense 3/82 - 2
7-21598568-C-T c.644C>T p.P215L Missense 3/82 - 2
7-21598572-T-A c.648T>A p.T216= Synonymous 3/82 - 1
7-21598572-T-C c.648T>C p.T216= Synonymous 3/82 - 1
7-21598572-T-G c.648T>G p.T216= Synonymous 3/82 - 1
7-21598576-G-C c.652G>C p.A218P Missense 3/82 - 1
7-21598576-G-T c.652G>T p.A218S Missense 3/82 - 1
7-21598580-G-A c.656G>A p.G219E Missense 3/82 - 2
7-21598584-G-A c.660G>A p.K220= Synonymous 3/82 - 3
7-21598584-G-C c.660G>C p.K220N Missense 3/82 - 1
7-21598584-G-T c.660G>T p.K220N Missense 3/82 - 1
7-21598585-A-T c.661A>T p.M221L Missense 3/82 - 2
7-21598586-T-C c.662T>C p.M221T Missense 3/82 - 1
7-21598586-T-G c.662T>G p.M221R Missense 3/82 - 1
7-21598587-G-A c.663G>A p.M221I Missense 3/82 - 1
7-21598588-G-A c.664G>A p.D222N Missense 3/82 - 1
7-21598588-G-T c.664G>T p.D222Y Missense 3/82 - 3
7-21598591-C-G c.667C>G p.L223V Missense 3/82 - 1
7-21598591-CTG-ATC c.667_669delinsATC p.L223I Missense 3/82 - 1
7-21598594-G-A c.670G>A p.D224N Missense 3/82 - 1
7-21598597-C-G c.673C>G p.Q225E Missense 3/82 - 1
7-21598597-C-T c.673C>T p.Q225* Nonsense 3/82 - 3
7-21598598-A-G c.674A>G p.Q225R Missense 3/82 - 1
7-21598601-A-G c.677A>G p.N226S Missense 3/82 - 2
7-21598604-G-C c.680G>C p.C227S Missense 3/82 - 1
7-21598604-G-A c.680G>A p.C227Y Missense 3/82 - 1
7-21598607-CA-GT c.683_684delinsGT p.S228C Missense 3/82 - 1
7-21598607-CA-TT c.683_684delinsTT p.S228F Missense 3/82 - 1
7-21598607-C-T c.683C>T p.S228L Missense 3/82 - 1
7-21598608-A-C c.684A>C p.S228= Synonymous 3/82 - 2
7-21598608-A-G c.684A>G p.S228= Synonymous 3/82 - 2
7-21598608-A-T c.684A>T p.S228= Synonymous 3/82 - 3
7-21598611-G-A c.687G>A p.E229= Synonymous 3/82 - 1
7-21598611-G-T c.687G>T p.E229D Missense 3/82 - 1
7-21598613-A-T c.689A>T p.N230I Missense 3/82 - 1
7-21598614-C-A c.690C>A p.N230K Missense 3/82 - 1
7-21598614-C-T c.690C>T p.N230= Synonymous 3/82 - 1
7-21598621-G-A c.692+5G>A - IntronicSNV - 3/81 1
7-21598753-G-C c.692+137G>C - IntronicSNV - 3/81 1
7-21599222-C-T c.694C>T p.P232S Missense 4/82 - 3
7-21599223-C-T c.695C>T p.P232L Missense 4/82 - 6
7-21599225-C-T c.697C>T p.P233S Missense 4/82 - 3
7-21599226-C-T c.698C>T p.P233L Missense 4/82 - 2
7-21599227-G-A c.699G>A p.P233= Synonymous 4/82 - 2
7-21599227-G-C c.699G>C p.P233= Synonymous 4/82 - 1
7-21599227-G-T c.699G>T p.P233= Synonymous 4/82 - 1
7-21599228-T-C c.700T>C p.S234P Missense 4/82 - 2
7-21599229-C-A c.701C>A p.S234* Nonsense 4/82 - 1
7-21599230-A-C c.702A>C p.S234= Synonymous 4/82 - 1
7-21599230-A-G c.702A>G p.S234= Synonymous 4/82 - 1
7-21599230-A-T c.702A>T p.S234= Synonymous 4/82 - 1
7-21599232-A-G c.704A>G p.N235S Missense 4/82 - 1
7-21599233-C-G c.705C>G p.N235K Missense 4/82 - 3
7-21599233-C-T c.705C>T p.N235= Synonymous 4/82 - 22
7-21599234-G-A c.706G>A p.E236K Missense 4/82 - 8
7-21599234-G-T c.706G>T p.E236* Nonsense 4/82 - 1
7-21599236-A-C c.708A>C p.E236D Missense 4/82 - 1
7-21599236-A-T c.708A>T p.E236D Missense 4/82 - 1
7-21599237-AG-CA c.709_710delinsCA p.R237Q Missense 4/82 - 1
7-21599237-AG-CC c.709_710delinsCC p.R237P Missense 4/82 - 1
7-21599238-AGGATAATACTTC-A c.710_721del p.R237_H241delinsN MultiAAMissense 4/82 - 1
7-21599238-G-A c.710G>A p.R237K Missense 4/82 - 1
7-21599237-A-C c.709A>C p.R237= Synonymous 4/82 - 1
7-21599239-G-A c.711G>A p.R237= Synonymous 4/82 - 1
7-21599241-T-C c.713T>C p.I238T Missense 4/82 - 1
7-21599242-A-C c.714A>C p.I238= Synonymous 4/82 - 1
7-21599242-A-G c.714A>G p.I238M Missense 4/82 - 1
7-21599242-A-T c.714A>T p.I238= Synonymous 4/82 - 1
7-21599246-C-G c.718C>G p.L240V Missense 4/82 - 1
7-21599249-C-T c.721C>T p.H241Y Missense 4/82 - 1
7-21599250-A-G c.722A>G p.H241R Missense 4/82 - 1
7-21599253-C-A c.725C>A p.A242E Missense 4/82 - 1
7-21599253-C-T c.725C>T p.A242V Missense 4/82 - 3
7-21599255-A-G c.727A>G p.I243V Missense 4/82 - 4
7-21599255-A-T c.727A>T p.I243F Missense 4/82 - 2
7-21599257-T-A c.729T>A p.I243= Synonymous 4/82 - 1
7-21599257-T-C c.729T>C p.I243= Synonymous 4/82 - 1
7-21599258-G-T c.730G>T p.E244* Nonsense 4/82 - 2
7-21599261-TC-CT c.733_734delinsCT p.S245L Missense 4/82 - 1
7-21599262-CT-AA c.734_735delinsAA p.S245* Nonsense 4/82 - 1
7-21599264-G-C c.736G>C p.V246L Missense 4/82 - 2
7-21599264-G-T c.736G>T p.V246L Missense 4/82 - 1
7-21599267-G-A c.739G>A p.V247I Missense 4/82 - 1
7-21599270-A-G c.742A>G p.I248V Missense 4/82 - 1
7-21599273-G-A c.745G>A p.E249K Missense 4/82 - 1
7-21599274-A-T c.746A>T p.E249V Missense 4/82 - 1
7-21599276-T-C c.748T>C p.W250R Missense 4/82 - 1
7-21599278-G-A c.750G>A p.W250* Nonsense 4/82 - 1
7-21599279-T-A c.751T>A p.S251T Missense 4/82 - 1
7-21599279-T-C c.751T>C p.S251P Missense 4/82 - 1
7-21599282-C-T c.754C>T p.H252Y Missense 4/82 - 3
7-21599285-C-G c.757C>G p.Q253E Missense 4/82 - 3
7-21599289-TC-AG c.761_762delinsAG p.I254K Missense 4/82 - 1
7-21599290-C-A c.762C>A p.I254= Synonymous 4/82 - 1
7-21599290-C-T c.762C>T p.I254= Synonymous 4/82 - 3
7-21599291-C-T c.763C>T p.Q255* Nonsense 4/82 - 1
7-21599294-G-T c.766G>T p.E256* Nonsense 4/82 - 2
7-21599294-G-GA c.769dup p.I257Nfs*37 Frameshift 4/82 - 1
7-21599297-A-G c.769A>G p.I257V Missense 4/82 - 1
7-21599298-T-C c.770T>C p.I257T Missense 4/82 - 1
7-21599301-TAGA-T c.775_777del p.E259del InFrameDeletion 4/82 - 1
7-21599303-G-T c.775G>T p.E259* Nonsense 4/82 - 2
7-21599306-A-C c.778A>C p.R260= Synonymous 4/82 - 1
7-21599306-AGA-TGT c.778_780delinsTGT p.R260C Missense 4/82 - 2
7-21599307-G-A c.779G>A p.R260K Missense 4/82 - 1
7-21599307-G-C c.779G>C p.R260T Missense 4/82 - 1
7-21599308-A-C c.780A>C p.R260S Missense 4/82 - 1
7-21599308-A-T c.780A>T p.R260S Missense 4/82 - 1
7-21599309-G-T c.781G>T p.D261Y Missense 4/82 - 1
7-21599312-T-A c.784T>A p.S262T Missense 4/82 - 1
7-21599312-T-G c.784T>G p.S262A Missense 4/82 - 2
7-21599313-C-T c.785C>T p.S262L Missense 4/82 - 1
7-21599320-G-T c.792G>T p.Q264H Missense 4/82 - 1
7-21599321-C-G c.793C>G p.R265G Missense 4/82 - 1
7-21599321-C-T c.793C>T p.R265C Missense 4/82 - 2
7-21599322-G-A c.794G>A p.R265H Missense 4/82 - 1
7-21599327-T-C c.799T>C p.L267= Synonymous 4/82 - 1
7-21599333-G-A c.805G>A p.G269S Missense 4/82 - 1
7-21599334-G-A c.806G>A p.G269D Missense 4/82 - 2
7-21599334-G-T c.806G>T p.G269V Missense 4/82 - 3
7-21599335-T-C c.807T>C p.G269= Synonymous 4/82 - 1
7-21599337-T-G c.809T>G p.L270R Missense 4/82 - 3
7-21599339-C-T c.811C>T p.H271Y Missense 4/82 - 1
7-21599342-T-C c.814T>C p.L272= Synonymous 4/82 - 1
7-21599344-G-A c.816G>A p.L272= Synonymous 4/82 - 1
7-21599343-T-C c.815T>C p.L272S Missense 4/82 - 1
7-21599345-T-C c.817T>C p.S273P Missense 4/82 - 1
7-21599348-C-T c.820C>T p.P274S Missense 4/82 - 1
7-21599349-C-T c.821C>T p.P274L Missense 4/82 - 1
7-21599351-C-G c.823C>G p.Q275E Missense 4/82 - 2
7-21599352-A-C c.824A>C p.Q275P Missense 4/82 - 1
7-21599352-AAGC-A c.827_829del p.A276del InFrameDeletion 4/82 - 1
7-21599355-C-A c.827C>A p.A276E Missense 4/82 - 1
7-21599355-C-G c.827C>G p.A276G Missense 4/82 - 1
7-21599357-G-A c.829G>A p.E277K Missense 4/82 - 2
7-21599359-A-C c.831A>C p.E277D Missense 4/82 - 1
7-21599359-A-T c.831A>T p.E277D Missense 4/82 - 1
7-21599360-C-G c.832C>G p.L278V Missense 4/82 - 1
7-21599361-T-C c.833T>C p.L278P Missense 4/82 - 1
7-21599360-C-T c.832C>T p.L278= Synonymous 4/82 - 1
7-21599362-A-C c.834A>C p.L278= Synonymous 4/82 - 1
7-21599362-A-G c.834A>G p.L278= Synonymous 4/82 - 1
7-21599362-A-T c.834A>T p.L278= Synonymous 4/82 - 1
7-21599363-G-A c.835G>A p.D279N Missense 4/82 - 1
7-21599363-G-C c.835G>C p.D279H Missense 4/82 - 4
7-21599368-C-T c.840C>T p.F280= Synonymous 4/82 - 1
7-21599369-T-A c.841T>A p.W281R Missense 4/82 - 1
7-21599369-T-C c.841T>C p.W281R Missense 4/82 - 1
7-21599370-G-A c.842G>A p.W281* Nonsense 4/82 - 1
7-21599371-G-A c.843G>A p.W281* Nonsense 4/82 - 3
7-21599372-A-G c.844A>G p.M282V Missense 4/82 - 1
7-21599373-T-C c.845T>C p.M282T Missense 4/82 - 1
7-21599374-G-A c.846G>A p.M282I Missense 4/82 - 3
7-21599374-G-C c.846G>C p.M282I Missense 4/82 - 4
7-21599374-G-T c.846G>T p.M282I Missense 4/82 - 3
7-21599376-T-C c.848T>C p.M283T Missense 4/82 - 1
7-21599377-G-A c.849G>A p.M283I Missense 4/82 - 2
7-21599377-G-C c.849G>C p.M283I Missense 4/82 - 2
7-21599377-G-T c.849G>T p.M283I Missense 4/82 - 1
7-21599379-G-A c.851G>A p.R284K Missense 4/82 - 1
7-21599381-A-G c.853A>G p.R285G Missense 4/82 - 2
7-21599382-G-A c.854G>A p.R285K Missense 4/82 - 2
7-21599382-G-C c.854G>C p.R285T Missense 4/82 - 7
7-21599382-G-T c.854G>T p.R285I Missense 4/82 - 1
7-21599382-GAGA-G c.856_858del p.E286del InFrameDeletion 4/82 - 1
7-21599384-G-T c.856G>T p.E286* Nonsense 4/82 - 4
7-21599386-A-G c.858A>G p.E286= Synonymous 4/82 - 2
7-21599384-G-GA c.860dup p.N287Kfs*7 Frameshift 4/82 - 1
7-21599389-T-C c.861T>C p.N287= Synonymous 4/82 - 1
7-21599390-C-A c.862C>A p.L288M Missense 4/82 - 4
7-21599393-TCA-AAC c.865_867delinsAAC p.S289N Missense 4/82 - 1
7-21599394-C-T c.866C>T p.S289L Missense 4/82 - 1
7-21599395-A-T c.867A>T p.S289= Synonymous 4/82 - 1
7-21599397-G-T c.869G>T p.C290F Missense 4/82 - 1
7-21599398-C-T c.870C>T p.C290= Synonymous 4/82 - 1
7-21599399-A-C c.871A>C p.I291L Missense 4/82 - 1
7-21599399-A-G c.871A>G p.I291V Missense 4/82 - 1
7-21599403-A-G c.875A>G p.Y292C Missense 4/82 - 1
7-21599405-G-T c.877G>T p.D293Y Missense 4/82 - 3
7-21599408-C-A c.880C>A p.Q294K Missense 4/82 - 1
7-21599417-A-G c.882+7A>G - IntronicSNV - 4/81 1
7-21599494-C-T c.882+84C>T - IntronicSNV - 4/81 1
7-21599745-G-A c.882+335G>A - IntronicSNV - 4/81 1
7-21599745-G-C c.882+335G>C - IntronicSNV - 4/81 1
7-21600693-A-C c.887A>C p.Q296P Missense 5/82 - 1
7-21600695-G-A c.889G>A p.A297T Missense 5/82 - 1
7-21600695-G-C c.889G>C p.A297P Missense 5/82 - 2
7-21600696-C-T c.890C>T p.A297V Missense 5/82 - 2
7-21600697-A-G c.891A>G p.A297= Synonymous 5/82 - 1
7-21600699-C-T c.893C>T p.P298L Missense 5/82 - 1
7-21600704-G-A c.898G>A p.V300I Missense 5/82 - 1
7-21600707-C-A c.901C>A p.L301I Missense 5/82 - 1
7-21600707-C-G c.901C>G p.L301V Missense 5/82 - 1
7-21600715-G-C c.909G>C p.M303I Missense 5/82 - 1
7-21600716-G-A c.910G>A p.V304I Missense 5/82 - 2
7-21600720-A-G c.914A>G p.K305R Missense 5/82 - 1
7-21600721-G-A c.915G>A p.K305= Synonymous 5/82 - 1
7-21600721-G-T c.915G>T p.K305N Missense 5/82 - 1
7-21600725-C-T c.919C>T p.L307= Synonymous 5/82 - 2
7-21600728-A-G c.922A>G p.T308A Missense 5/82 - 1
7-21600729-C-A c.923C>A p.T308K Missense 5/82 - 2
7-21600729-CA-TG c.923_924inv p.T308M Missense 5/82 - 1
7-21600730-A-C c.924A>C p.T308= Synonymous 5/82 - 1
7-21600734-A-C c.928A>C p.K310Q Missense 5/82 - 1
7-21600735-A-T c.929A>T p.K310I Missense 5/82 - 1
7-21600740-A-T c.934A>T p.S312C Missense 5/82 - 1
7-21600741-G-A c.935G>A p.S312N Missense 5/82 - 8
7-21600743-A-G c.937A>G p.S313G Missense 5/82 - 1
7-21600744-G-A c.938G>A p.S313N Missense 5/82 - 1
7-21600744-G-T c.938G>T p.S313I Missense 5/82 - 3
7-21600745-C-T c.939C>T p.S313= Synonymous 5/82 - 2
7-21600746-T-C c.940T>C p.Y314H Missense 5/82 - 2
7-21600747-A-G c.941A>G p.Y314C Missense 5/82 - 2
7-21600749-T-A c.943T>A p.F315I Missense 5/82 - 1
7-21600752-C-T c.946C>T p.P316S Missense 5/82 - 1
7-21600756-C-T c.950C>T p.T317I Missense 5/82 - 1
7-21600757-T-A c.951T>A p.T317= Synonymous 5/82 - 1
7-21600758-C-T c.952C>T p.L318= Synonymous 5/82 - 1
7-21600760-G-A c.954G>A p.L318= Synonymous 5/82 - 1
7-21600763-G-A c.957G>A p.K319= Synonymous 5/82 - 1
7-21600764-G-A c.958G>A p.D320N Missense 5/82 - 1
7-21600773-C-A c.967C>A p.L323M Missense 5/82 - 1
7-21600777-C-A c.971C>A p.A324D Missense 5/82 - 1
7-21600777-C-T c.971C>T p.A324V Missense 5/82 - 1
7-21600779-G-A c.973G>A p.V325M Missense 5/82 - 1
7-21600780-T-G c.974T>G p.V325G Missense 5/82 - 1
7-21600782-G-A c.976G>A p.E326K Missense 5/82 - 1
7-21600784-A-C c.978A>C p.E326D Missense 5/82 - 1
7-21600784-A-T c.978A>T p.E326D Missense 5/82 - 1
7-21600790-T-A c.982+2T>A - IntronicSNV - 5/81 1
7-21600902-A-C c.982+114A>C - IntronicSNV - 5/81 4
7-21600902-A-G c.982+114A>G - IntronicSNV - 5/81 6
7-21601065-TA-T c.982+289del - IntronicDeletion - 5/81 1
7-21601444-T-A c.982+656T>A - IntronicSNV - 5/81 1
7-21601444-T-C c.982+656T>C - IntronicSNV - 5/81 1
7-21601659-G-GCTCT c.982+872_982+875dup - IntronicInsertion - 5/81 1
7-21602065-G-A c.982+1277G>A - IntronicSNV - 5/81 1
7-21602548-G-GT c.983-1248dup - IntronicInsertion - 5/81 1
7-21603534-T-C c.983-270T>C - IntronicSNV - 5/81 1
7-21603601-G-A c.983-203G>A - IntronicSNV - 5/81 1
7-21603678-A-G c.983-126A>G - IntronicSNV - 5/81 4
7-21603765-C-A c.983-39C>A - IntronicSNV - 5/81 2
7-21603804-C-T c.983C>T p.A328V Missense 6/82 - 1
7-21603806-C-G c.985C>G p.L329V Missense 6/82 - 2
7-21603806-C-T c.985C>T p.L329F Missense 6/82 - 2
7-21603809-C-T c.988C>T p.L330F Missense 6/82 - 1
7-21603811-C-G c.990C>G p.L330= Synonymous 6/82 - 1
7-21603811-C-T c.990C>T p.L330= Synonymous 6/82 - 2
7-21603812-G-A c.991G>A p.E331K Missense 6/82 - 1
7-21603814-A-T c.993A>T p.E331D Missense 6/82 - 1
7-21603815-G-A c.994G>A p.A332T Missense 6/82 - 1
7-21603817-C-A c.996C>A p.A332= Synonymous 6/82 - 1
7-21603817-C-G c.996C>G p.A332= Synonymous 6/82 - 1
7-21603817-C-T c.996C>T p.A332= Synonymous 6/82 - 1
7-21603818-C-A c.997C>A p.Q333K Missense 6/82 - 1
7-21603819-A-G c.998A>G p.Q333R Missense 6/82 - 1
7-21603824-G-A c.1003G>A p.V335M Missense 6/82 - 1
7-21603827-G-A c.1006G>A p.E336K Missense 6/82 - 5
7-21603830-C-G c.1009C>G p.L337V Missense 6/82 - 1
7-21603831-T-A c.1010T>A p.L337H Missense 6/82 - 1
7-21603831-T-G c.1010T>G p.L337R Missense 6/82 - 2
7-21603833-TTA-T c.1012_1013del p.Y338Pfs*41 Frameshift 6/82 - 1
7-21603836-C-T c.1015C>T p.L339= Synonymous 6/82 - 1
7-21603839-AGA-TGT c.1018_1020delinsTGT p.R340C Missense 6/82 - 1
7-21603840-G-C c.1019G>C p.R340T Missense 6/82 - 1
7-21603843-C-T c.1022C>T p.P341L Missense 6/82 - 3
7-21603845-C-G c.1024C>G p.L342V Missense 6/82 - 2
7-21603846-T-C c.1025T>C p.L342P Missense 6/82 - 1
7-21603845-C-T c.1024C>T p.L342= Synonymous 6/82 - 2
7-21603847-G-A c.1026G>A p.L342= Synonymous 6/82 - 3
7-21603847-G-C c.1026G>C p.L342= Synonymous 6/82 - 2
7-21603847-G-T c.1026G>T p.L342= Synonymous 6/82 - 2
7-21603848-AG-CA c.1027_1028delinsCA p.R343Q Missense 6/82 - 1
7-21603849-G-C c.1028G>C p.R343T Missense 6/82 - 1
7-21603849-G-T c.1028G>T p.R343M Missense 6/82 - 1
7-21603852-G-A c.1031G>A p.R344K Missense 6/82 - 1
7-21603851-A-C c.1030A>C p.R344= Synonymous 6/82 - 2
7-21603853-A-G c.1032A>G p.R344= Synonymous 6/82 - 2
7-21603854-C-T c.1033C>T p.H345Y Missense 6/82 - 1
7-21603856-C-T c.1035C>T p.H345= Synonymous 6/82 - 3
7-21603857-A-G c.1036A>G p.I346V Missense 6/82 - 1
7-21603860-C-T c.1039C>T p.Q347* Nonsense 6/82 - 4
7-21603861-A-G c.1040A>G p.Q347R Missense 6/82 - 1
7-21603862-G-C c.1041G>C p.Q347H Missense 6/82 - 1
7-21603862-G-T c.1041G>T p.Q347H Missense 6/82 - 1
7-21603864-G-T c.1043G>T p.C348F Missense 6/82 - 1
7-21603865-T-C c.1044T>C p.C348= Synonymous 6/82 - 1
7-21603866-C-T c.1045C>T p.L349F Missense 6/82 - 1
7-21603868-C-T c.1047C>T p.L349= Synonymous 6/82 - 1
7-21603869-C-G c.1048C>G p.Q350E Missense 6/82 - 1
7-21603874-G-A c.1053G>A p.E351= Synonymous 6/82 - 4
7-21603874-G-C c.1053G>C p.E351D Missense 6/82 - 1
7-21603874-G-T c.1053G>T p.E351D Missense 6/82 - 1
7-21603876-C-T c.1055C>T p.T352M Missense 6/82 - 9
7-21603877-G-A c.1056G>A p.T352= Synonymous 6/82 - 2
7-21603877-G-C c.1056G>C p.T352= Synonymous 6/82 - 1
7-21603878-G-A c.1057G>A p.E353K Missense 6/82 - 1
7-21603878-G-GA c.1059dup p.F354Ifs*26 Frameshift 6/82 - 1
7-21603884-C-T c.1063C>T p.P355S Missense 6/82 - 7
7-21603882-TC-T c.1064del p.P355Hfs*6 Frameshift 6/82 - 1
7-21603885-C-T c.1064C>T p.P355L Missense 6/82 - 1
7-21603886-A-C c.1065A>C p.P355= Synonymous 6/82 - 2
7-21603886-A-G c.1065A>G p.P355= Synonymous 6/82 - 13
7-21603886-A-T c.1065A>T p.P355= Synonymous 6/82 - 2
7-21603887-C-A c.1066C>A p.Q356K Missense 6/82 - 2
7-21603889-G-A c.1068G>A p.Q356= Synonymous 6/82 - 3
7-21603890-A-G c.1069A>G p.T357A Missense 6/82 - 2
7-21603891-C-T c.1070C>T p.T357I Missense 6/82 - 1
7-21603893-C-G c.1072C>G p.R358G Missense 6/82 - 1
7-21603893-CG-AT c.1072_1073delinsAT p.R358I Missense 6/82 - 1
7-21603893-CGC-TGG c.1072_1074delinsTGG p.R358W Missense 6/82 - 1
7-21603893-C-T c.1072C>T p.R358C Missense 6/82 - 7
7-21603894-G-A c.1073G>A p.R358H Missense 6/82 - 1
7-21603895-C-A c.1074C>A p.R358= Synonymous 6/82 - 2
7-21603896-A-G c.1075A>G p.I359V Missense 6/82 - 1
7-21603898-A-G c.1077A>G p.I359M Missense 6/82 - 1
7-21603902-A-G c.1081A>G p.I361V Missense 6/82 - 1
7-21603904-C-A c.1083C>A p.I361= Synonymous 6/82 - 1
7-21603904-C-T c.1083C>T p.I361= Synonymous 6/82 - 2
7-21603905-G-A c.1084G>A p.A362T Missense 6/82 - 1
7-21603905-G-C c.1084G>C p.A362P Missense 6/82 - 2
7-21603909-C-T c.1088C>T p.P363L Missense 6/82 - 1
7-21603910-A-C c.1089A>C p.P363= Synonymous 6/82 - 1
7-21603910-A-G c.1089A>G p.P363= Synonymous 6/82 - 1
7-21603910-A-T c.1089A>T p.P363= Synonymous 6/82 - 1
7-21603911-T-C c.1090T>C p.L364= Synonymous 6/82 - 1
7-21603911-TT-CC c.1090_1091delinsCC p.L364P Missense 6/82 - 1
7-21603913-A-G c.1092A>G p.L364= Synonymous 6/82 - 2
7-21603917-C-G c.1096C>G p.H366D Missense 6/82 - 1
7-21603917-C-T c.1096C>T p.H366Y Missense 6/82 - 4
7-21603918-A-ATAAT c.1099_1100insATTA p.T367Nfs*14 Frameshift 6/82 - 1
7-21603921-C-A c.1100C>A p.T367N Missense 6/82 - 1
7-21603922-C-G c.1101C>G p.T367= Synonymous 6/82 - 1
7-21603925-C-A c.1104C>A p.I368= Synonymous 6/82 - 1
7-21603925-C-T c.1104C>T p.I368= Synonymous 6/82 - 2
7-21603928-T-C c.1107T>C p.C369= Synonymous 6/82 - 1
7-21603929-C-A c.1108C>A p.L370M Missense 6/82 - 1
7-21603933-T-C c.1112T>C p.I371T Missense 6/82 - 1
7-21603934-C-A c.1113C>A p.I371= Synonymous 6/82 - 1
7-21603934-C-G c.1113C>G p.I371M Missense 6/82 - 2
7-21603938-A-T c.1117A>T p.S373C Missense 6/82 - 1
7-21603941-C-A c.1120C>A p.H374N Missense 6/82 - 1
7-21603941-C-G c.1120C>G p.H374D Missense 6/82 - 2
7-21603941-C-T c.1120C>T p.H374Y Missense 6/82 - 2
7-21603949-G-C c.1128G>C p.K376N Missense 6/82 - 1
7-21603949-G-T c.1128G>T p.K376N Missense 6/82 - 1
7-21603950-T-C c.1129T>C p.F377L Missense 6/82 - 2
7-21603952-T-A c.1131T>A p.F377L Missense 6/82 - 2
7-21603952-T-G c.1131T>G p.F377L Missense 6/82 - 2
7-21603955-T-C c.1134T>C p.Y378= Synonymous 6/82 - 1
7-21603956-A-G c.1135A>G p.N379D Missense 6/82 - 1
7-21603958-C-T c.1137C>T p.N379= Synonymous 6/82 - 2
7-21603960-CC-TG c.1139_1140delinsTG p.T380M Missense 6/82 - 2
7-21603960-C-T c.1139C>T p.T380I Missense 6/82 - 1
7-21603962-C-T c.1141C>T p.P381S Missense 6/82 - 1
7-21603967-T-A c.1146T>A p.A382= Synonymous 6/82 - 1
7-21603967-T-C c.1146T>C p.A382= Synonymous 6/82 - 1
7-21603967-T-G c.1146T>G p.A382= Synonymous 6/82 - 1
7-21603968-C-G c.1147C>G p.R383G Missense 6/82 - 1
7-21603968-CGG-TGT c.1147_1149delinsTGT p.R383C Missense 6/82 - 1
7-21603968-C-T c.1147C>T p.R383W Missense 6/82 - 3
7-21603969-G-A c.1148G>A p.R383Q Missense 6/82 - 3
7-21603971-G-C c.1150G>C p.V384L Missense 6/82 - 1
7-21603971-GTT-ATG c.1150_1152delinsATG p.V384M Missense 6/82 - 1
7-21603977-G-A c.1156G>A p.V386I Missense 6/82 - 1
7-21603977-GTT-ATG c.1156_1158delinsATG p.V386M Missense 6/82 - 1
7-21603978-T-A c.1157T>A p.V386D Missense 6/82 - 1
7-21603978-T-G c.1157T>G p.V386G Missense 6/82 - 1
7-21603982-A-G c.1161A>G p.L387= Synonymous 6/82 - 1
7-21603983-T-C c.1162T>C p.L388= Synonymous 6/82 - 1
7-21603985-G-A c.1164G>A p.L388= Synonymous 6/82 - 1
7-21603989-G-A c.1168G>A p.E390K Missense 6/82 - 1
7-21603989-G-T c.1168G>T p.E390* Nonsense 6/82 - 1
7-21603990-A-G c.1169A>G p.E390G Missense 6/82 - 1
7-21603992-T-C c.1171T>C p.F391L Missense 6/82 - 1
7-21603992-T-G c.1171T>G p.F391V Missense 6/82 - 1
7-21603998-A-T c.1177A>T p.N393Y Missense 6/82 - 1
7-21604000-T-A c.1179T>A p.N393K Missense 6/82 - 2
7-21604000-T-G c.1179T>G p.N393K Missense 6/82 - 2
7-21604001-CT-AG c.1180_1181inv p.L394S Missense 6/82 - 1
7-21604003-C-A c.1182C>A p.L394= Synonymous 6/82 - 1
7-21604003-C-G c.1182C>G p.L394= Synonymous 6/82 - 2
7-21604003-C-T c.1182C>T p.L394= Synonymous 6/82 - 1
7-21604007-A-C c.1186A>C p.I396L Missense 6/82 - 3
7-21604007-A-G c.1186A>G p.I396V Missense 6/82 - 1
7-21604010-A-G c.1189A>G p.N397D Missense 6/82 - 1
7-21604014-A-G c.1193A>G p.Q398R Missense 6/82 - 1
7-21604019-T-C c.1194+4T>C - IntronicSNV - 6/81 1
7-21604166-A-G c.1194+151A>G - IntronicSNV - 6/81 1
7-21604519-A-G c.1194+504A>G - IntronicSNV - 6/81 1
7-21604916-C-G c.1194+901C>G - IntronicSNV - 6/81 1
7-21605973-A-G c.1194+1958A>G - IntronicSNV - 6/81 2
7-21607245-G-T c.1195-2442G>T - IntronicSNV - 6/81 1
7-21607283-C-G c.1195-2404C>G - IntronicSNV - 6/81 1
7-21607352-T-C c.1195-2335T>C - IntronicSNV - 6/81 32
7-21609507-A-G c.1195-180A>G - IntronicSNV - 6/81 1
7-21609623-G-A c.1195-64G>A - IntronicSNV - 6/81 2
7-21609625-C-T c.1195-62C>T - IntronicSNV - 6/81 3
7-21609687-G-A c.1195G>A p.A399T Missense 7/82 - 2
7-21609690-A-T c.1198A>T p.T400S Missense 7/82 - 1
7-21609691-C-T c.1199C>T p.T400I Missense 7/82 - 11
7-21609692-A-G c.1200A>G p.T400= Synonymous 7/82 - 1
7-21609696-T-A c.1204T>A p.Y402N Missense 7/82 - 5
7-21609702-TC-GG c.1210_1211delinsGG p.S404G Missense 7/82 - 1
7-21609703-C-T c.1211C>T p.S404L Missense 7/82 - 1
7-21609706-C-T c.1214C>T p.P405L Missense 7/82 - 1
7-21609707-CTGA-C c.1215_1217del p.E406del InFrameDeletion 7/82 - 1
7-21609708-G-T c.1216G>T p.E406* Nonsense 7/82 - 1
7-21609710-G-C c.1218G>C p.E406D Missense 7/82 - 1
7-21609711-G-C c.1219G>C p.D407H Missense 7/82 - 1
7-21609714-C-T c.1222C>T p.L408F Missense 7/82 - 2
7-21609716-T-A c.1224T>A p.L408= Synonymous 7/82 - 2
7-21609716-T-C c.1224T>C p.L408= Synonymous 7/82 - 2
7-21609716-T-G c.1224T>G p.L408= Synonymous 7/82 - 2
7-21609717-TTG-ATC c.1225_1227delinsATC p.L409I Missense 7/82 - 1
7-21609720-AG-TA c.1228_1229delinsTA p.R410* Nonsense 7/82 - 1
7-21609721-G-A c.1229G>A p.R410K Missense 7/82 - 2
7-21609721-G-T c.1229G>T p.R410M Missense 7/82 - 1
7-21609723-G-A c.1231G>A p.G411R Missense 7/82 - 3
7-21609723-G-C c.1231G>C p.G411R Missense 7/82 - 3
7-21609724-G-A c.1232G>A p.G411E Missense 7/82 - 2
7-21609724-G-C c.1232G>C p.G411A Missense 7/82 - 1
7-21609726-G-T c.1234G>T p.E412* Nonsense 7/82 - 1
7-21609729-A-C c.1237A>C p.I413L Missense 7/82 - 1
7-21609733-A-G c.1241A>G p.E414G Missense 7/82 - 2
7-21609735-G-A c.1243G>A p.E415K Missense 7/82 - 2
7-21609737-G-T c.1245G>T p.E415D Missense 7/82 - 1
7-21609739-C-T c.1247C>T p.S416L Missense 7/82 - 1
7-21609741-CTG-ATC c.1249_1251delinsATC p.L417I Missense 7/82 - 1
7-21609744-G-A c.1252G>A p.E418K Missense 7/82 - 1
7-21609744-G-T c.1252G>T p.E418* Nonsense 7/82 - 1
7-21609750-G-C c.1258G>C p.V420L Missense 7/82 - 3
7-21609750-G-T c.1258G>T p.V420L Missense 7/82 - 4
7-21609753-C-G c.1261C>G p.Q421E Missense 7/82 - 1
7-21609755-G-A c.1263G>A p.Q421= Synonymous 7/82 - 1
7-21609756-G-A c.1264G>A p.V422M Missense 7/82 - 1
7-21609756-G-C c.1264G>C p.V422L Missense 7/82 - 1
7-21609756-G-T c.1264G>T p.V422L Missense 7/82 - 1
7-21609763-T-C c.1271T>C p.V424A Missense 7/82 - 1
7-21609764-T-C c.1272T>C p.V424= Synonymous 7/82 - 3
7-21609765-A-G c.1273A>G p.N425D Missense 7/82 - 1
7-21609767-C-A c.1275C>A p.N425K Missense 7/82 - 1
7-21609767-C-T c.1275C>T p.N425= Synonymous 7/82 - 1
7-21609768-A-G c.1276A>G p.I426V Missense 7/82 - 1
7-21609773-A-G c.1281A>G p.L427= Synonymous 7/82 - 3
7-21609776-G-C c.1284G>C p.K428N Missense 7/82 - 1
7-21609776-G-T c.1284G>T p.K428N Missense 7/82 - 1
7-21609777-A-T c.1285A>T p.T429S Missense 7/82 - 1
7-21609778-C-A c.1286C>A p.T429N Missense 7/82 - 1
7-21609778-C-T c.1286C>T p.T429I Missense 7/82 - 2
7-21609778-CT-TG c.1286_1287delinsTG p.T429M Missense 7/82 - 1
7-21609782-C-G c.1290C>G p.F430L Missense 7/82 - 1
7-21609778-C-CT c.1289dup p.K431Qfs*8 Frameshift 7/82 - 1
7-21609781-T-C c.1289T>C p.F430S Missense 7/82 - 1
7-21609785-A-C c.1293A>C p.K431N Missense 7/82 - 1
7-21609785-A-G c.1293A>G p.K431= Synonymous 7/82 - 1
7-21609782-CA-C c.1295del p.N432Tfs*19 Frameshift 7/82 - 1
7-21609787-A-T c.1295A>T p.N432I Missense 7/82 - 1
7-21609788-C-T c.1296C>T p.N432= Synonymous 7/82 - 1
7-21609791-C-T c.1299C>T p.S433= Synonymous 7/82 - 1
7-21609792-T-C c.1300T>C p.F434L Missense 7/82 - 2
7-21609796-T-A c.1304T>A p.F435Y Missense 7/82 - 1
7-21609797-C-G c.1305C>G p.F435L Missense 7/82 - 1
7-21609797-C-T c.1305C>T p.F435= Synonymous 7/82 - 3
7-21609798-A-T c.1306A>T p.N436Y Missense 7/82 - 2
7-21609799-A-C c.1307A>C p.N436T Missense 7/82 - 1
7-21609800-C-A c.1308C>A p.N436K Missense 7/82 - 1
7-21609800-C-G c.1308C>G p.N436K Missense 7/82 - 1
7-21609802-A-AT c.1311dup p.R438* Nonsense 7/82 - 1
7-21609805-G-C c.1313G>C p.R438T Missense 7/82 - 3
7-21609806-A-C c.1314A>C p.R438S Missense 7/82 - 1
7-21609806-A-T c.1314A>T p.R438S Missense 7/82 - 1
7-21609808-A-G c.1316A>G p.K439R Missense 7/82 - 1
7-21609805-G-GA c.1320dup p.L441Ifs*25 Frameshift 7/82 - 3
7-21609812-A-C c.1320A>C p.K440N Missense 7/82 - 1
7-21609812-A-T c.1320A>T p.K440N Missense 7/82 - 1
7-21609813-T-A c.1321T>A p.L441M Missense 7/82 - 1
7-21609813-T-C c.1321T>C p.L441= Synonymous 7/82 - 1
7-21609815-G-A c.1323G>A p.L441= Synonymous 7/82 - 2
7-21609816-G-A c.1324G>A p.A442T Missense 7/82 - 1
7-21609816-G-T c.1324G>T p.A442S Missense 7/82 - 1
7-21609817-C-T c.1325C>T p.A442V Missense 7/82 - 1
7-21609820-G-C c.1328G>C p.S443T Missense 7/82 - 1
7-21609825-T-C c.1333T>C p.F445L Missense 7/82 - 1
7-21609826-T-C c.1334T>C p.F445S Missense 7/82 - 1
7-21609827-T-C c.1335T>C p.F445= Synonymous 7/82 - 1
7-21609829-T-G c.1337T>G p.M446R Missense 7/82 - 1
7-21609830-G-A c.1338G>A p.M446I Missense 7/82 - 1
7-21609830-G-C c.1338G>C p.M446I Missense 7/82 - 1
7-21609830-G-T c.1338G>T p.M446I Missense 7/82 - 1
7-21609831-G-A c.1339G>A p.G447R Missense 7/82 - 5
7-21609831-G-C c.1339G>C p.G447R Missense 7/82 - 3
7-21609835-G-A c.1343G>A p.R448K Missense 7/82 - 5
7-21609835-G-T c.1343G>T p.R448I Missense 7/82 - 2
7-21609841-T-G c.1349T>G p.L450R Missense 7/82 - 1
7-21609840-C-T c.1348C>T p.L450= Synonymous 7/82 - 1
7-21609842-G-A c.1350G>A p.L450= Synonymous 7/82 - 1
7-21609842-G-C c.1350G>C p.L450= Synonymous 7/82 - 1
7-21609842-G-T c.1350G>T p.L450= Synonymous 7/82 - 1
7-21609843-A-T c.1351A>T p.R451* Nonsense 7/82 - 1
7-21609844-G-A c.1352G>A p.R451K Missense 7/82 - 1
7-21609847-C-T c.1355C>T p.P452L Missense 7/82 - 3
7-21609850-G-T c.1358G>T p.W453L Missense 7/82 - 1
7-21609851-G-T c.1359G>T p.W453C Missense 7/82 - 1
7-21609852-G-T c.1360G>T p.D454Y Missense 7/82 - 1
7-21609853-A-T c.1361A>T p.D454V Missense 7/82 - 2
7-21609855-T-G c.1363T>G p.F455V Missense 7/82 - 1
7-21609857-C-G c.1365C>G p.F455L Missense 7/82 - 1
7-21609858-C-T c.1366C>T p.Q456* Nonsense 7/82 - 1
7-21609861-T-C c.1369T>C p.S457P Missense 7/82 - 1
7-21609861-TC-CT c.1369_1370delinsCT p.S457L Missense 7/82 - 1
7-21609862-C-T c.1370C>T p.S457F Missense 7/82 - 2
7-21609865-A-G c.1373A>G p.H458R Missense 7/82 - 1
7-21609867-C-T c.1375C>T p.L459= Synonymous 7/82 - 3
7-21609868-T-C c.1376T>C p.L459P Missense 7/82 - 1
7-21609870-G-A c.1378G>A p.V460M Missense 7/82 - 2
7-21609875-T-C c.1383T>C p.F461= Synonymous 7/82 - 1
7-21609876-T-C c.1384T>C p.C462R Missense 7/82 - 1
7-21609876-TG-AC c.1384_1385delinsAC p.C462T Missense 7/82 - 1
7-21609880-G-T c.1388G>T p.R463I Missense 7/82 - 1
7-21609888-A-C c.1396A>C p.K466Q Missense 7/82 - 1
7-21609889-A-C c.1397A>C p.K466T Missense 7/82 - 4
7-21609890-G-A c.1398G>A p.K466= Synonymous 7/82 - 1
7-21609895-T-C c.1403T>C p.L468P Missense 7/82 - 1
7-21609897-G-C c.1405G>C p.D469H Missense 7/82 - 1
7-21609898-A-G c.1406A>G p.D469G Missense 7/82 - 1
7-21609900-C-T c.1408C>T p.R470C Missense 7/82 - 2
7-21609901-G-A c.1409G>A p.R470H Missense 7/82 - 9
7-21609901-G-C c.1409G>C p.R470P Missense 7/82 - 2
7-21609901-G-T c.1409G>T p.R470L Missense 7/82 - 1
7-21609906-A-G c.1414A>G p.I472V Missense 7/82 - 1
7-21609912-A-G c.1420A>G p.I474V Missense 7/82 - 1
7-21609915-G-C c.1423G>C p.E475Q Missense 7/82 - 4
7-21609918-G-T c.1425+1G>T - IntronicSNV - 7/81 1
7-21609954-G-T c.1425+37G>T - IntronicSNV - 7/81 1
7-21611187-G-A c.1426-237G>A - IntronicSNV - 7/81 1
7-21611187-G-C c.1426-237G>C - IntronicSNV - 7/81 1
7-21611399-G-A c.1426-25G>A - IntronicSNV - 7/81 4
7-21611399-G-C c.1426-25G>C - IntronicSNV - 7/81 4
7-21611399-G-T c.1426-25G>T - IntronicSNV - 7/81 4
7-21611424-G-A c.1426G>A p.D476N Missense 8/82 - 2
7-21611424-G-C c.1426G>C p.D476H Missense 8/82 - 1
7-21611429-A-G c.1431A>G p.I477M Missense 8/82 - 1
7-21611433-G-A c.1435G>A p.A479T Missense 8/82 - 3
7-21611433-G-C c.1435G>C p.A479P Missense 8/82 - 1
7-21611436-A-G c.1438A>G p.T480A Missense 8/82 - 1
7-21611437-C-T c.1439C>T p.T480I Missense 8/82 - 2
7-21611439-A-G c.1441A>G p.T481A Missense 8/82 - 1
7-21611444-G-A c.1446G>A p.L482= Synonymous 8/82 - 1
7-21611444-G-T c.1446G>T p.L482F Missense 8/82 - 1
7-21611446-A-C c.1448A>C p.E483A Missense 8/82 - 1
7-21611447-A-G c.1449A>G p.E483= Synonymous 8/82 - 1
7-21611448-T-C c.1450T>C p.F484L Missense 8/82 - 1
7-21611450-T-A c.1452T>A p.F484L Missense 8/82 - 1
7-21611450-T-G c.1452T>G p.F484L Missense 8/82 - 4
7-21611457-C-G c.1459C>G p.L487V Missense 8/82 - 1
7-21611457-CTG-ATC c.1459_1461delinsATC p.L487I Missense 8/82 - 1
7-21611460-G-A c.1462G>A p.E488K Missense 8/82 - 2
7-21611461-A-T c.1463A>T p.E488V Missense 8/82 - 1
7-21611463-AGA-CAT c.1465_1467delinsCAT p.R489H Missense 8/82 - 1
7-21611463-AGA-TGG c.1465_1467delinsTGG p.R489W Missense 8/82 - 1
7-21611464-G-A c.1466G>A p.R489K Missense 8/82 - 5
7-21611463-A-C c.1465A>C p.R489= Synonymous 8/82 - 1
7-21611465-A-G c.1467A>G p.R489= Synonymous 8/82 - 1
7-21611465-A-T c.1467A>T p.R489S Missense 8/82 - 1
7-21611466-C-G c.1468C>G p.L490V Missense 8/82 - 1
7-21611466-C-T c.1468C>T p.L490= Synonymous 8/82 - 1
7-21611468-G-T c.1470G>T p.L490= Synonymous 8/82 - 1
7-21611469-G-A c.1471G>A p.E491K Missense 8/82 - 2
7-21611475-G-A c.1477G>A p.G493S Missense 8/82 - 1
7-21611476-G-A c.1478G>A p.G493D Missense 8/82 - 2
7-21611476-G-T c.1478G>T p.G493V Missense 8/82 - 2
7-21611479-G-A c.1481G>A p.G494D Missense 8/82 - 1
7-21611482-C-T c.1484C>T p.T495I Missense 8/82 - 1
7-21611483-C-A c.1485C>A p.T495= Synonymous 8/82 - 1
7-21611483-C-G c.1485C>G p.T495= Synonymous 8/82 - 1
7-21611483-C-T c.1485C>T p.T495= Synonymous 8/82 - 1
7-21611484-A-G c.1486A>G p.K496E Missense 8/82 - 1
7-21611486-A-G c.1488A>G p.K496= Synonymous 8/82 - 1
7-21611487-G-A c.1489G>A p.G497R Missense 8/82 - 4
7-21611487-G-T c.1489G>T p.G497* Nonsense 8/82 - 1
7-21611490-G-T c.1492G>T p.A498S Missense 8/82 - 1
7-21611491-C-T c.1493C>T p.A498V Missense 8/82 - 1
7-21611493-A-G c.1495A>G p.I499V Missense 8/82 - 2
7-21611499-A-G c.1501A>G p.N501D Missense 8/82 - 1
7-21611500-A-G c.1502A>G p.N501S Missense 8/82 - 3
7-21611501-T-C c.1503T>C p.N501= Synonymous 8/82 - 1
7-21611501-T-G c.1503T>G p.N501K Missense 8/82 - 1
7-21611502-G-A c.1504G>A p.G502R Missense 8/82 - 2
7-21611502-G-T c.1504G>T p.G502* Nonsense 8/82 - 1
7-21611503-G-T c.1505G>T p.G502V Missense 8/82 - 3
7-21611511-C-T c.1513C>T p.H505Y Missense 8/82 - 1
7-21611514-G-A c.1516G>A p.E506K Missense 8/82 - 2
7-21611514-G-C c.1516G>C p.E506Q Missense 8/82 - 2
7-21611516-G-A c.1518G>A p.E506= Synonymous 8/82 - 2
7-21611518-T-A c.1520T>A p.M507K Missense 8/82 - 4
7-21611521-G-A c.1523G>A p.S508N Missense 8/82 - 2
7-21611522-T-C c.1524T>C p.S508= Synonymous 8/82 - 1
7-21611523-G-T c.1525G>T p.E509* Nonsense 8/82 - 3
7-21611526-G-A c.1528G>A p.E510K Missense 8/82 - 3
7-21611526-G-T c.1528G>T p.E510* Nonsense 8/82 - 4
7-21611533-T-A c.1535T>A p.M512K Missense 8/82 - 1
7-21611533-T-C c.1535T>C p.M512T Missense 8/82 - 1
7-21611534-G-A c.1536G>A p.M512I Missense 8/82 - 2
7-21611535-G-A c.1537G>A p.E513K Missense 8/82 - 4
7-21611538-C-A c.1540C>A p.L514I Missense 8/82 - 2
7-21611540-C-A c.1542C>A p.L514= Synonymous 8/82 - 1
7-21611540-C-G c.1542C>G p.L514= Synonymous 8/82 - 1
7-21611540-C-T c.1542C>T p.L514= Synonymous 8/82 - 1
7-21611541-T-C c.1543T>C p.C515R Missense 8/82 - 1
7-21611541-TG-AC c.1543_1544delinsAC p.C515T Missense 8/82 - 1
7-21611542-G-T c.1544G>T p.C515F Missense 8/82 - 1
7-21611543-TA-T c.1548del p.K516Nfs*50 Frameshift 8/82 - 1
7-21611546-A-G c.1548A>G p.K516= Synonymous 8/82 - 1
7-21611547-C-G c.1549C>G p.L517V Missense 8/82 - 1
7-21611547-C-T c.1549C>T p.L517F Missense 8/82 - 1
7-21611550-T-G c.1552T>G p.F518V Missense 8/82 - 1
7-21611553-A-G c.1555A>G p.K519E Missense 8/82 - 1
7-21611556-C-T c.1558C>T p.Q520* Nonsense 8/82 - 1
7-21611557-A-G c.1559A>G p.Q520R Missense 8/82 - 1
7-21611558-G-C c.1560G>C p.Q520H Missense 8/82 - 1
7-21611558-G-T c.1560G>T p.Q520H Missense 8/82 - 1
7-21611559-A-C c.1561A>C p.S521R Missense 8/82 - 1
7-21611561-C-A c.1563C>A p.S521R Missense 8/82 - 1
7-21611561-C-G c.1563C>G p.S521R Missense 8/82 - 1
7-21611563-C-T c.1565C>T p.T522I Missense 8/82 - 1
7-21611565-T-C c.1567T>C p.Y523H Missense 8/82 - 1
7-21611568-G-T c.1570G>T p.D524Y Missense 8/82 - 1
7-21611575-C-A c.1577C>A p.S526Y Missense 8/82 - 1
7-21611575-C-G c.1577C>G p.S526C Missense 8/82 - 1
7-21611580-TG-AC c.1582_1583delinsAC p.C528T Missense 8/82 - 1
7-21611582-C-T c.1584C>T p.C528= Synonymous 8/82 - 1
7-21611583-A-T c.1585A>T p.T529S Missense 8/82 - 2
7-21611584-C-A c.1586C>A p.T529N Missense 8/82 - 2
7-21611584-C-G c.1586C>G p.T529S Missense 8/82 - 2
7-21611592-G-A c.1593+1G>A - IntronicSNV - 8/81 1
7-21611619-G-C c.1593+28G>C - IntronicSNV - 8/81 2
7-21611619-G-T c.1593+28G>T - IntronicSNV - 8/81 3
7-21611626-A-C c.1593+35A>C - IntronicSNV - 8/81 1
7-21611626-A-G c.1593+35A>G - IntronicSNV - 8/81 1
7-21611626-A-T c.1593+35A>T - IntronicSNV - 8/81 1
7-21612705-T-A c.1593+1114T>A - IntronicSNV - 8/81 1
7-21612705-T-C c.1593+1114T>C - IntronicSNV - 8/81 1
7-21613146-C-G c.1593+1555C>G - IntronicSNV - 8/81 1
7-21613284-T-A c.1593+1693T>A - IntronicSNV - 8/81 1
7-21613603-C-T c.1593+2012C>T - IntronicSNV - 8/81 1
7-21614575-C-G c.1593+2984C>G - IntronicSNV - 8/81 2
7-21615425-T-C c.1593+3834T>C - IntronicSNV - 8/81 1
7-21618093-A-G c.1594-3430A>G - IntronicSNV - 8/81 1
7-21621453-G-A c.1594-70G>A - IntronicSNV - 8/81 1
7-21621525-G-T c.1596G>T p.E532D Missense 9/82 - 1
7-21621527-T-G c.1598T>G p.F533C Missense 9/82 - 3
7-21621530-A-G c.1601A>G p.E534G Missense 9/82 - 2
7-21621531-A-G c.1602A>G p.E534= Synonymous 9/82 - 1
7-21621532-A-T c.1603A>T p.S535C Missense 9/82 - 1
7-21621534-T-C c.1605T>C p.S535= Synonymous 9/82 - 1
7-21621541-G-A c.1612G>A p.V538M Missense 9/82 - 1
7-21621544-G-A c.1615G>A p.A539T Missense 9/82 - 1
7-21621545-C-T c.1616C>T p.A539V Missense 9/82 - 3
7-21621554-C-T c.1625C>T p.S542F Missense 9/82 - 1
7-21621560-CT-TG c.1631_1632delinsTG p.T544M Missense 9/82 - 1
7-21621562-C-T c.1633C>T p.L545= Synonymous 9/82 - 2
7-21621564-G-A c.1635G>A p.L545= Synonymous 9/82 - 1
7-21621564-G-C c.1635G>C p.L545= Synonymous 9/82 - 1
7-21621564-G-T c.1635G>T p.L545= Synonymous 9/82 - 1
7-21621565-G-A c.1636G>A p.E546K Missense 9/82 - 4
7-21621569-T-G c.1640T>G p.F547C Missense 9/82 - 1
7-21621570-T-A c.1641T>A p.F547L Missense 9/82 - 1
7-21621571-G-C c.1642G>C p.D548H Missense 9/82 - 3
7-21621572-A-G c.1643A>G p.D548G Missense 9/82 - 1
7-21621575-G-A c.1646G>A p.R549K Missense 9/82 - 1
7-21621575-GA-G c.1648del p.R550Gfs*16 Frameshift 9/82 - 2
7-21621577-AG-CT c.1648_1649inv p.R550L Missense 9/82 - 1
7-21621579-G-C c.1650G>C p.R550S Missense 9/82 - 1
7-21621582-T-A c.1653T>A p.L551= Synonymous 9/82 - 1
7-21621582-T-C c.1653T>C p.L551= Synonymous 9/82 - 1
7-21621582-T-G c.1653T>G p.L551= Synonymous 9/82 - 1
7-21621583-G-T c.1654G>T p.G552W Missense 9/82 - 1
7-21621584-G-T c.1655G>T p.G552V Missense 9/82 - 2
7-21621586-A-G c.1657A>G p.T553A Missense 9/82 - 1
7-21621586-A-T c.1657A>T p.T553S Missense 9/82 - 1
7-21621599-A-G c.1670A>G p.E557G Missense 9/82 - 1
7-21621601-G-T c.1672G>T p.A558S Missense 9/82 - 1
7-21621602-C-T c.1673C>T p.A558V Missense 9/82 - 1
7-21621602-CT-C c.1676del p.F559Sfs*7 Frameshift 9/82 - 1
7-21621607-T-C c.1678T>C p.F560L Missense 9/82 - 1
7-21621609-T-A c.1680T>A p.F560L Missense 9/82 - 2
7-21621609-T-G c.1680T>G p.F560L Missense 9/82 - 1
7-21621608-T-C c.1679T>C p.F560S Missense 9/82 - 1
7-21621614-G-A c.1685G>A p.C562Y Missense 9/82 - 1
7-21621614-G-C c.1685G>C p.C562S Missense 9/82 - 1
7-21621620-G-C c.1691G>C p.G564A Missense 9/82 - 1
7-21621621-C-A c.1692C>A p.G564= Synonymous 9/82 - 1
7-21621621-C-G c.1692C>G p.G564= Synonymous 9/82 - 1
7-21621621-C-T c.1692C>T p.G564= Synonymous 9/82 - 1
7-21621622-T-C c.1693T>C p.L565= Synonymous 9/82 - 1
7-21621622-T-G c.1693T>G p.L565V Missense 9/82 - 1
7-21621623-T-C c.1694T>C p.L565S Missense 9/82 - 1
7-21621624-A-C c.1695A>C p.L565F Missense 9/82 - 1
7-21621624-A-T c.1695A>T p.L565F Missense 9/82 - 1
7-21621625-G-A c.1696G>A p.E566K Missense 9/82 - 1
7-21621626-A-G c.1697A>G p.E566G Missense 9/82 - 1
7-21621627-A-C c.1698A>C p.E566D Missense 9/82 - 2
7-21621629-C-G c.1700C>G p.A567G Missense 9/82 - 1
7-21621630-T-A c.1701T>A p.A567= Synonymous 9/82 - 2
7-21621630-T-C c.1701T>C p.A567= Synonymous 9/82 - 1
7-21621630-T-G c.1701T>G p.A567= Synonymous 9/82 - 1
7-21621631-G-A c.1702G>A p.A568T Missense 9/82 - 14
7-21621631-G-T c.1702G>T p.A568S Missense 9/82 - 1
7-21621632-C-T c.1703C>T p.A568V Missense 9/82 - 1
7-21621634-T-C c.1705T>C p.F569L Missense 9/82 - 1
7-21621636-T-A c.1707T>A p.F569L Missense 9/82 - 1
7-21621636-T-G c.1707T>G p.F569L Missense 9/82 - 1
7-21621639-G-A c.1710G>A p.K570= Synonymous 9/82 - 1
7-21621639-G-C c.1710G>C p.K570N Missense 9/82 - 1
7-21621640-G-A c.1710+1G>A - IntronicSNV - 9/81 1
7-21627683-T-C c.1712T>C p.L571P Missense 10/82 - 1
7-21627691-A-G c.1720A>G p.I574V Missense 10/82 - 1
7-21627697-G-T c.1726G>T p.G576* Nonsense 10/82 - 1
7-21627698-G-A c.1727G>A p.G576E Missense 10/82 - 5
7-21627706-CTA-TTT c.1735_1737delinsTTT p.L579F Missense 10/82 - 1
7-21627707-T-C c.1736T>C p.L579P Missense 10/82 - 1
7-21627706-C-T c.1735C>T p.L579= Synonymous 10/82 - 1
7-21627708-A-C c.1737A>C p.L579= Synonymous 10/82 - 1
7-21627708-A-G c.1737A>G p.L579= Synonymous 10/82 - 1
7-21627708-A-T c.1737A>T p.L579= Synonymous 10/82 - 1
7-21627709-G-A c.1738G>A p.E580K Missense 10/82 - 1
7-21627709-G-C c.1738G>C p.E580Q Missense 10/82 - 2
7-21627718-G-A c.1747G>A p.V583I Missense 10/82 - 1
7-21627720-T-A c.1749T>A p.V583= Synonymous 10/82 - 1
7-21627720-T-C c.1749T>C p.V583= Synonymous 10/82 - 1
7-21627720-T-G c.1749T>G p.V583= Synonymous 10/82 - 1
7-21627723-C-A c.1752C>A p.V584= Synonymous 10/82 - 1
7-21627723-C-G c.1752C>G p.V584= Synonymous 10/82 - 1
7-21627723-C-T c.1752C>T p.V584= Synonymous 10/82 - 1
7-21627726-G-GA c.1755_1756insA p.E586Rfs*15 Frameshift 10/82 - 1
7-21627726-G-T c.1755G>T p.M585I Missense 10/82 - 1
7-21627727-G-A c.1756G>A p.E586K Missense 10/82 - 1
7-21627727-G-T c.1756G>T p.E586* Nonsense 10/82 - 1
7-21627732-T-G c.1761T>G p.I587M Missense 10/82 - 2
7-21627735-C-T c.1764C>T p.F588= Synonymous 10/82 - 1
7-21627736-AG-CC c.1765_1766delinsCC p.S589P Missense 10/82 - 1
7-21627742-C-A c.1771C>A p.H591N Missense 10/82 - 1
7-21627744-T-A c.1773T>A p.H591Q Missense 10/82 - 3
7-21627744-T-G c.1773T>G p.H591Q Missense 10/82 - 2
7-21627745-TTACAGCACA-T c.1774_1782del p.Y592_T594del InFrameDeletion 10/82 - 1
7-21627746-A-G c.1775A>G p.Y592C Missense 10/82 - 1
7-21627747-C-A c.1776C>A p.Y592* Nonsense 10/82 - 1
7-21627747-C-G c.1776C>G p.Y592* Nonsense 10/82 - 1
7-21627748-A-G c.1777A>G p.S593G Missense 10/82 - 1
7-21627749-G-A c.1778G>A p.S593N Missense 10/82 - 2
7-21627757-G-A c.1786G>A p.V596M Missense 10/82 - 2
7-21627758-T-A c.1787T>A p.V596E Missense 10/82 - 1
7-21627760-C-A c.1789C>A p.H597N Missense 10/82 - 1
7-21627760-C-T c.1789C>T p.H597Y Missense 10/82 - 1
7-21627761-A-G c.1790A>G p.H597R Missense 10/82 - 1
7-21627764-T-C c.1793T>C p.M598T Missense 10/82 - 2
7-21627765-G-A c.1794G>A p.M598I Missense 10/82 - 1
7-21627765-G-T c.1794G>T p.M598I Missense 10/82 - 1
7-21627772-A-G c.1801A>G p.T601A Missense 10/82 - 1
7-21627772-A-T c.1801A>T p.T601S Missense 10/82 - 1
7-21627775-G-A c.1804G>A p.E602K Missense 10/82 - 2
7-21627778-C-A c.1807C>A p.L603M Missense 10/82 - 2
7-21627781-G-A c.1810G>A p.D604N Missense 10/82 - 1
7-21627781-G-T c.1810G>T p.D604Y Missense 10/82 - 1
7-21627786-G-A c.1815G>A p.V605= Synonymous 10/82 - 1
7-21627786-G-C c.1815G>C p.V605= Synonymous 10/82 - 1
7-21627786-G-T c.1815G>T p.V605= Synonymous 10/82 - 1
7-21627787-GTGT-G c.1816_1818del p.C606del InFrameDeletion 10/82 - 1
7-21627788-G-A c.1817G>A p.C606Y Missense 10/82 - 4
7-21627795-A-C c.1824A>C p.Q608H Missense 10/82 - 1
7-21627795-A-T c.1824A>T p.Q608H Missense 10/82 - 1
7-21627796-C-G c.1825C>G p.L609V Missense 10/82 - 1
7-21627797-TG-AT c.1826_1827delinsAT p.L609H Missense 10/82 - 2
7-21627796-C-T c.1825C>T p.L609= Synonymous 10/82 - 1
7-21627798-G-A c.1827G>A p.L609= Synonymous 10/82 - 1
7-21627798-G-C c.1827G>C p.L609= Synonymous 10/82 - 1
7-21627798-G-T c.1827G>T p.L609= Synonymous 10/82 - 1
7-21627806-A-C c.1835A>C p.E612A Missense 10/82 - 2
7-21627812-T-C c.1841T>C p.M614T Missense 10/82 - 1
7-21627813-G-A c.1842G>A p.M614I Missense 10/82 - 4
7-21627817-C-G c.1846C>G p.Q616E Missense 10/82 - 2
7-21627817-C-T c.1846C>T p.Q616* Nonsense 10/82 - 1
7-21627818-A-T c.1847A>T p.Q616L Missense 10/82 - 1
7-21627819-G-A c.1848G>A p.Q616= Synonymous 10/82 - 1
7-21627819-G-C c.1848G>C p.Q616H Missense 10/82 - 1
7-21627864-C-A c.1848+45C>A - IntronicSNV - 10/81 1
7-21627864-C-T c.1848+45C>T - IntronicSNV - 10/81 1
7-21627909-A-G c.1848+90A>G - IntronicSNV - 10/81 6
7-21627909-A-T c.1848+90A>T - IntronicSNV - 10/81 3
7-21628132-T-G c.1851T>G p.I617M Missense 11/82 - 1
7-21628133-G-A c.1852G>A p.E618K Missense 11/82 - 2
7-21628134-A-T c.1853A>T p.E618V Missense 11/82 - 4
7-21628137-G-A c.1856G>A p.C619Y Missense 11/82 - 1
7-21628137-G-T c.1856G>T p.C619F Missense 11/82 - 1
7-21628139-G-C c.1858G>C p.G620R Missense 11/82 - 1
7-21628140-G-C c.1859G>C p.G620A Missense 11/82 - 1
7-21628141-T-C c.1860T>C p.G620= Synonymous 11/82 - 1
7-21628143-A-G c.1862A>G p.H621R Missense 11/82 - 1
7-21628146-T-C c.1865T>C p.V622A Missense 11/82 - 1
7-21628149-T-C c.1868T>C p.V623A Missense 11/82 - 2
7-21628152-TT-AA c.1871_1872inv p.L624Q Missense 11/82 - 1
7-21628164-T-C c.1883T>C p.M628T Missense 11/82 - 1
7-21628165-G-T c.1884G>T p.M628I Missense 11/82 - 1
7-21628166-C-T c.1885C>T p.P629S Missense 11/82 - 1
7-21628175-T-C c.1894T>C p.S632P Missense 11/82 - 4
7-21628179-G-A c.1898G>A p.G633E Missense 11/82 - 1
7-21628179-G-T c.1898G>T p.G633V Missense 11/82 - 1
7-21628182-A-C c.1901A>C p.N634T Missense 11/82 - 1
7-21628184-A-G c.1903A>G p.M635V Missense 11/82 - 1
7-21628186-G-A c.1905G>A p.M635I Missense 11/82 - 4
7-21628186-G-C c.1905G>C p.M635I Missense 11/82 - 1
7-21628186-G-T c.1905G>T p.M635I Missense 11/82 - 1
7-21628191-G-T c.1910G>T p.W637L Missense 11/82 - 2
7-21628193-G-A c.1912G>A p.A638T Missense 11/82 - 1
7-21628193-G-T c.1912G>T p.A638S Missense 11/82 - 2
7-21628196-CA-TG c.1915_1916inv p.Q639W Missense 11/82 - 1
7-21628196-C-G c.1915C>G p.Q639E Missense 11/82 - 1
7-21628196-C-T c.1915C>T p.Q639* Nonsense 11/82 - 6
7-21628197-A-G c.1916A>G p.Q639R Missense 11/82 - 22
7-21628197-A-T c.1916A>T p.Q639L Missense 11/82 - 5
7-21628198-G-A c.1917G>A p.Q639= Synonymous 11/82 - 2
7-21628199-C-A c.1918C>A p.Q640K Missense 11/82 - 1
7-21628202-G-A c.1921G>A p.V641I Missense 11/82 - 2
7-21628202-GT-AA c.1921_1922delinsAA p.V641N Missense 11/82 - 3
7-21628203-T-A c.1922T>A p.V641D Missense 11/82 - 2
7-21628204-T-A c.1923T>A p.V641= Synonymous 11/82 - 1
7-21628204-T-C c.1923T>C p.V641= Synonymous 11/82 - 1
7-21628204-T-G c.1923T>G p.V641= Synonymous 11/82 - 1
7-21628205-C-T c.1924C>T p.L642F Missense 11/82 - 1
7-21628208-C-T c.1927C>T p.Q643* Nonsense 11/82 - 2
7-21628210-A-T c.1929A>T p.Q643H Missense 11/82 - 1
7-21628211-C-T c.1930C>T p.R644* Nonsense 11/82 - 4
7-21628212-GA-AG c.1931_1932delinsAG p.R644Q Missense 11/82 - 1
7-21628214-C-T c.1933C>T p.L645F Missense 11/82 - 1
7-21628216-T-C c.1935T>C p.L645= Synonymous 11/82 - 1
7-21628217-C-T c.1936C>T p.Q646* Nonsense 11/82 - 4
7-21628218-A-G c.1937A>G p.Q646R Missense 11/82 - 1
7-21628222-G-A c.1941G>A p.M647I Missense 11/82 - 3
7-21628222-G-C c.1941G>C p.M647I Missense 11/82 - 1
7-21628222-G-T c.1941G>T p.M647I Missense 11/82 - 1
7-21628223-T-A c.1942T>A p.F648I Missense 11/82 - 1
7-21628230-C-T c.1949C>T p.S650L Missense 11/82 - 2
7-21628231-A-C c.1950A>C p.S650= Synonymous 11/82 - 1
7-21628231-A-G c.1950A>G p.S650= Synonymous 11/82 - 1
7-21628231-A-T c.1950A>T p.S650= Synonymous 11/82 - 1
7-21628233-A-G c.1952A>G p.N651S Missense 11/82 - 2
7-21628237-C-T c.1956C>T p.F652= Synonymous 11/82 - 21
7-21628239-C-T c.1958C>T p.A653V Missense 11/82 - 3
7-21628241-TC-AT c.1960_1961delinsAT p.S654I Missense 11/82 - 1
7-21628241-TC-CG c.1960_1961delinsCG p.S654R Missense 11/82 - 1
7-21628241-TC-CT c.1960_1961delinsCT p.S654L Missense 11/82 - 1
7-21628241-T-G c.1960T>G p.S654A Missense 11/82 - 1
7-21628242-C-G c.1961C>G p.S654C Missense 11/82 - 20
7-21628242-C-T c.1961C>T p.S654F Missense 11/82 - 2
7-21628243-T-A c.1962T>A p.S654= Synonymous 11/82 - 1
7-21628243-T-C c.1962T>C p.S654= Synonymous 11/82 - 1
7-21628243-T-G c.1962T>G p.S654= Synonymous 11/82 - 1
7-21628246-C-T c.1965C>T p.L655= Synonymous 11/82 - 1
7-21628247-C-T c.1966C>T p.R656C Missense 11/82 - 1
7-21628248-G-A c.1967G>A p.R656H Missense 11/82 - 1
7-21628251-A-G c.1970A>G p.Y657C Missense 11/82 - 1
7-21628685-C-G c.1974-141C>G - IntronicSNV - 11/81 1
7-21628825-G-C c.1974-1G>C - IntronicSNV - 11/81 1
7-21628826-GATTTTTGGGCAATCCTGATCACGCTTTAGTTTATCAAAAGTATGTTGAAATGACCACTT-G c.1974_2032del p.F659Afs*2 Unclassified 12/82 - 1
7-21628830-T-G c.1978T>G p.L660V Missense 12/82 - 1
7-21628833-G-A c.1981G>A p.G661S Missense 12/82 - 2
7-21628834-G-C c.1982G>C p.G661A Missense 12/82 - 1
7-21628837-A-G c.1985A>G p.N662S Missense 12/82 - 1
7-21628839-C-G c.1987C>G p.P663A Missense 12/82 - 1
7-21628840-C-A c.1988C>A p.P663H Missense 12/82 - 1
7-21628840-C-T c.1988C>T p.P663L Missense 12/82 - 1
7-21628842-G-A c.1990G>A p.D664N Missense 12/82 - 3
7-21628845-C-G c.1993C>G p.H665D Missense 12/82 - 1
7-21628845-C-T c.1993C>T p.H665Y Missense 12/82 - 1
7-21628848-G-A c.1996G>A p.A666T Missense 12/82 - 1
7-21628849-C-G c.1997C>G p.A666G Missense 12/82 - 1
7-21628850-T-A c.1998T>A p.A666= Synonymous 12/82 - 1
7-21628850-T-C c.1998T>C p.A666= Synonymous 12/82 - 1
7-21628850-T-G c.1998T>G p.A666= Synonymous 12/82 - 2
7-21628852-T-C c.2000T>C p.L667S Missense 12/82 - 1
7-21628854-G-T c.2002G>T p.V668F Missense 12/82 - 1
7-21628860-C-G c.2008C>G p.Q670E Missense 12/82 - 1
7-21628861-A-G c.2009A>G p.Q670R Missense 12/82 - 1
7-21628862-A-C c.2010A>C p.Q670H Missense 12/82 - 1
7-21628862-A-T c.2010A>T p.Q670H Missense 12/82 - 1
7-21628862-A-AAG c.2011_2012insGA p.K671Rfs*6 Frameshift 12/82 - 1
7-21628863-A-C c.2011A>C p.K671Q Missense 12/82 - 1
7-21628866-T-C c.2014T>C p.Y672H Missense 12/82 - 1
7-21628869-G-A c.2017G>A p.V673I Missense 12/82 - 1
7-21628877-G-T c.2025G>T p.M675I Missense 12/82 - 2
7-21628880-C-A c.2028C>A p.T676= Synonymous 12/82 - 1
7-21628881-A-T c.2029A>T p.T677S Missense 12/82 - 1
7-21628882-C-G c.2030C>G p.T677S Missense 12/82 - 1
7-21628882-C-T c.2030C>T p.T677I Missense 12/82 - 1
7-21628883-T-A c.2031T>A p.T677= Synonymous 12/82 - 1
7-21628883-T-C c.2031T>C p.T677= Synonymous 12/82 - 1
7-21628883-T-G c.2031T>G p.T677= Synonymous 12/82 - 1
7-21628889-T-A c.2037T>A p.L679= Synonymous 12/82 - 1
7-21628889-T-C c.2037T>C p.L679= Synonymous 12/82 - 1
7-21628889-T-G c.2037T>G p.L679= Synonymous 12/82 - 1
7-21628890-G-A c.2038G>A p.D680N Missense 12/82 - 3
7-21628890-G-C c.2038G>C p.D680H Missense 12/82 - 2
7-21628891-A-C c.2039A>C p.D680A Missense 12/82 - 4
7-21628895-A-G c.2043A>G p.Q681= Synonymous 12/82 - 4
7-21628896-T-A c.2044T>A p.F682I Missense 12/82 - 1
7-21628898-T-C c.2046T>C p.F682= Synonymous 12/82 - 1
7-21628899-TG-T c.2047del p.E683Kfs*20 Frameshift 12/82 - 1
7-21628901-A-G c.2049A>G p.E683= Synonymous 12/82 - 1
7-21628903-G-T c.2051G>T p.S684I Missense 12/82 - 2
7-21628906-G-A c.2054G>A p.R685H Missense 12/82 - 4
7-21628907-T-A c.2055T>A p.R685= Synonymous 12/82 - 2
7-21628907-T-C c.2055T>C p.R685= Synonymous 12/82 - 3
7-21628907-T-G c.2055T>G p.R685= Synonymous 12/82 - 2
7-21628909-T-C c.2057T>C p.I686T Missense 12/82 - 1
7-21628910-C-G c.2058C>G p.I686M Missense 12/82 - 1
7-21628912-A-G c.2060A>G p.Y687C Missense 12/82 - 2
7-21628916-T-C c.2064T>C p.N688= Synonymous 12/82 - 2
7-21628917-G-A c.2065G>A p.E689K Missense 12/82 - 1
7-21628919-A-G c.2067A>G p.E689= Synonymous 12/82 - 1
7-21628920-T-A c.2068T>A p.W690R Missense 12/82 - 1
7-21628921-G-C c.2069G>C p.W690S Missense 12/82 - 1
7-21628922-G-A c.2070G>A p.W690* Nonsense 12/82 - 4
7-21628926-AG-TT c.2074_2075delinsTT p.S692F Missense 12/82 - 1
7-21628926-A-T c.2074A>T p.S692C Missense 12/82 - 1
7-21628928-T-A c.2076T>A p.S692R Missense 12/82 - 1
7-21628928-T-G c.2076T>G p.S692R Missense 12/82 - 1
7-21628929-A-C c.2077A>C p.N693H Missense 12/82 - 2
7-21628929-A-T c.2077A>T p.N693Y Missense 12/82 - 1
7-21628932-G-A c.2080G>A p.V694M Missense 12/82 - 1
7-21628932-G-T c.2080G>T p.V694L Missense 12/82 - 1
7-21628930-ATG-A c.2081_2082del p.V694Gfs*2 Frameshift 12/82 - 2
7-21628935-G-A c.2083G>A p.D695N Missense 12/82 - 6
7-21628937-T-TAG c.2085_2086insAG p.E696Rfs*8 Frameshift 12/82 - 1
7-21628938-G-A c.2086G>A p.E696K Missense 12/82 - 1
7-21628947-G-A c.2095G>A p.E699K Missense 12/82 - 1
7-21628947-G-T c.2095G>T p.E699* Nonsense 12/82 - 1
7-21628950-T-C c.2098T>C p.F700L Missense 12/82 - 2
7-21628952-C-A c.2100C>A p.F700L Missense 12/82 - 2
7-21628952-C-G c.2100C>G p.F700L Missense 12/82 - 2
7-21628954-A-G c.2102A>G p.N701S Missense 12/82 - 1
7-21628956-T-C c.2104T>C p.L702= Synonymous 12/82 - 1
7-21628956-T-G c.2104T>G p.L702V Missense 12/82 - 1
7-21628958-G-A c.2106G>A p.L702= Synonymous 12/82 - 1
7-21628958-G-C c.2106G>C p.L702F Missense 12/82 - 2
7-21628958-G-T c.2106G>T p.L702F Missense 12/82 - 1
7-21628959-A-G c.2107A>G p.N703D Missense 12/82 - 1
7-21628966-C-T c.2114C>T p.P705L Missense 12/82 - 3
7-21628968-T-C c.2116T>C p.L706= Synonymous 12/82 - 1
7-21628973-T-A c.2121T>A p.V707= Synonymous 12/82 - 1
7-21628976-A-G c.2124A>G p.K708= Synonymous 12/82 - 1
7-21628977-T-C c.2125T>C p.F709L Missense 12/82 - 5
7-21628979-C-A c.2127C>A p.F709L Missense 12/82 - 4
7-21628979-C-G c.2127C>G p.F709L Missense 12/82 - 3
7-21628979-C-T c.2127C>T p.F709= Synonymous 12/82 - 1
7-21628980-A-T c.2128A>T p.S710C Missense 12/82 - 1
7-21628986-A-G c.2134A>G p.I712V Missense 12/82 - 1
7-21628986-A-T c.2134A>T p.I712L Missense 12/82 - 1
7-21628988-A-C c.2136A>C p.I712= Synonymous 12/82 - 1
7-21628988-A-T c.2136A>T p.I712= Synonymous 12/82 - 1
7-21628992-G-T c.2140G>T p.G714C Missense 12/82 - 3
7-21628993-G-C c.2141G>C p.G714A Missense 12/82 - 1
7-21628994-T-A c.2142T>A p.G714= Synonymous 12/82 - 1
7-21628994-T-C c.2142T>C p.G714= Synonymous 12/82 - 1
7-21628994-T-G c.2142T>G p.G714= Synonymous 12/82 - 1
7-21628998-C-T c.2146C>T p.L716F Missense 12/82 - 5
7-21629000-C-A c.2148C>A p.L716= Synonymous 12/82 - 1
7-21629000-C-G c.2148C>G p.L716= Synonymous 12/82 - 1
7-21629000-C-T c.2148C>T p.L716= Synonymous 12/82 - 1
7-21629002-G-A c.2150G>A p.C717Y Missense 12/82 - 1
7-21629002-G-T c.2150G>T p.C717F Missense 12/82 - 1
7-21629004-G-A c.2152G>A p.V718I Missense 12/82 - 1
7-21629004-G-T c.2152G>T p.V718F Missense 12/82 - 1
7-21629008-A-C c.2156A>C p.N719T Missense 12/82 - 1
7-21629011-T-G c.2159T>G p.F720C Missense 12/82 - 2
7-21629013-G-C c.2161G>C p.D721H Missense 12/82 - 1
7-21629013-G-T c.2161G>T p.D721Y Missense 12/82 - 1
7-21629014-A-G c.2162A>G p.D721G Missense 12/82 - 1
7-21629016-C-A c.2164C>A p.P722T Missense 12/82 - 1
7-21629016-C-G c.2164C>G p.P722A Missense 12/82 - 1
7-21629016-C-T c.2164C>T p.P722S Missense 12/82 - 1
7-21629018-A-G c.2166A>G p.P722= Synonymous 12/82 - 1
7-21630283-A-G c.2170-253A>G - IntronicSNV - 12/81 1
7-21630542-G-A c.2176G>A p.A726T Missense 13/82 - 1
7-21630546-T-G c.2180T>G p.V727G Missense 13/82 - 2
7-21630551-A-T c.2185A>T p.R729* Nonsense 13/82 - 1
7-21630554-G-T c.2188G>T p.E730* Nonsense 13/82 - 3
7-21630556-A-G c.2190A>G p.E730= Synonymous 13/82 - 1
7-21630559-G-A c.2193G>A p.V731= Synonymous 13/82 - 1
7-21630559-G-C c.2193G>C p.V731= Synonymous 13/82 - 1
7-21630559-G-T c.2193G>T p.V731= Synonymous 13/82 - 1
7-21630578-A-G c.2212A>G p.K738E Missense 13/82 - 1
7-21630580-G-A c.2214G>A p.K738= Synonymous 13/82 - 1
7-21630582-A-C c.2216A>C p.K739T Missense 13/82 - 1
7-21630583-A-C c.2217A>C p.K739N Missense 13/82 - 1
7-21630583-A-T c.2217A>T p.K739N Missense 13/82 - 1
7-21630584-C-A c.2218C>A p.Q740K Missense 13/82 - 1
7-21630586-A-T c.2220A>T p.Q740H Missense 13/82 - 1
7-21630590-ATA-TTT c.2224_2226delinsTTT p.I742F Missense 13/82 - 2
7-21630592-A-G c.2226A>G p.I742M Missense 13/82 - 1
7-21630596-G-C c.2230G>C p.D744H Missense 13/82 - 1
7-21630600-C-A c.2234C>A p.S745* Nonsense 13/82 - 3
7-21630600-CA-TT c.2234_2235delinsTT p.S745F Missense 13/82 - 1
7-21630600-C-G c.2234C>G p.S745* Nonsense 13/82 - 2
7-21630604-T-G c.2238T>G p.A746= Synonymous 13/82 - 1
7-21630605-T-G c.2239T>G p.L747V Missense 13/82 - 1
7-21630608-G-A c.2242G>A p.A748T Missense 13/82 - 1
7-21630610-C-A c.2244C>A p.A748= Synonymous 13/82 - 1
7-21630610-C-G c.2244C>G p.A748= Synonymous 13/82 - 1
7-21630610-C-T c.2244C>T p.A748= Synonymous 13/82 - 1
7-21630612-T-A c.2246T>A p.I749N Missense 13/82 - 2
7-21630618-A-G c.2252A>G p.K751R Missense 13/82 - 1
7-21630619-G-A c.2253G>A p.K751= Synonymous 13/82 - 1
7-21630623-AG-TA c.2257_2258delinsTA p.R753* Nonsense 13/82 - 1
7-21630624-G-A c.2258G>A p.R753K Missense 13/82 - 5
7-21630624-G-T c.2258G>T p.R753M Missense 13/82 - 1
7-21630623-A-C c.2257A>C p.R753= Synonymous 13/82 - 1
7-21630625-G-A c.2259G>A p.R753= Synonymous 13/82 - 1
7-21630631-T-A c.2265T>A p.T755= Synonymous 13/82 - 1
7-21630633-T-A c.2267T>A p.I756N Missense 13/82 - 1
7-21630636-T-A c.2270T>A p.L757* Nonsense 13/82 - 1
7-21630640-G-A c.2274G>A p.K758= Synonymous 13/82 - 2
7-21630641-G-A c.2274+1G>A - IntronicSNV - 13/81 1
7-21630656-TA-T c.2274+24del - IntronicDeletion - 13/81 1
7-21630667-T-C c.2274+27T>C - IntronicSNV - 13/81 1
7-21630788-G-T c.2275-15G>T - IntronicSNV - 13/81 1
7-21630803-GTACATTGGAAATCTTGACCTTCTTGTGCAAGGGTATAATAAACTCAAACAGACGCTCCT-G c.2275_2333del p.Y759Gfs*3 InFrameDeletion 14/82 - 2
7-21630803-T-A c.2275T>A p.Y759N Missense 14/82 - 1
7-21630806-A-G c.2278A>G p.I760V Missense 14/82 - 1
7-21630807-T-G c.2279T>G p.I760S Missense 14/82 - 1
7-21630810-G-A c.2282G>A p.G761E Missense 14/82 - 6
7-21630813-A-C c.2285A>C p.N762T Missense 14/82 - 1
7-21630815-C-T c.2287C>T p.L763F Missense 14/82 - 4
7-21630817-T-A c.2289T>A p.L763= Synonymous 14/82 - 1
7-21630817-T-C c.2289T>C p.L763= Synonymous 14/82 - 1
7-21630817-T-G c.2289T>G p.L763= Synonymous 14/82 - 1
7-21630820-C-T c.2292C>T p.D764= Synonymous 14/82 - 1
7-21630827-G-C c.2299G>C p.V767L Missense 14/82 - 1
7-21630827-G-T c.2299G>T p.V767L Missense 14/82 - 1
7-21630833-G-A c.2305G>A p.G769R Missense 14/82 - 1
7-21630841-T-C c.2313T>C p.N771= Synonymous 14/82 - 1
7-21630841-T-G c.2313T>G p.N771K Missense 14/82 - 1
7-21630843-A-T c.2315A>T p.K772I Missense 14/82 - 5
7-21630845-C-G c.2317C>G p.L773V Missense 14/82 - 1
7-21630849-A-G c.2321A>G p.K774R Missense 14/82 - 1
7-21630851-C-T c.2323C>T p.Q775* Nonsense 14/82 - 1
7-21630855-C-T c.2327C>T p.T776M Missense 14/82 - 5
7-21630856-G-A c.2328G>A p.T776= Synonymous 14/82 - 2
7-21630856-G-C c.2328G>C p.T776= Synonymous 14/82 - 1
7-21630856-G-T c.2328G>T p.T776= Synonymous 14/82 - 3
7-21630857-C-T c.2329C>T p.L777F Missense 14/82 - 3
7-21630859-C-A c.2331C>A p.L777= Synonymous 14/82 - 2
7-21630860-C-T c.2332C>T p.L778= Synonymous 14/82 - 1
7-21630862-G-A c.2334G>A p.L778= Synonymous 14/82 - 2
7-21630862-G-C c.2334G>C p.L778= Synonymous 14/82 - 1
7-21630862-G-T c.2334G>T p.L778= Synonymous 14/82 - 1
7-21630863-G-C c.2335G>C p.E779Q Missense 14/82 - 1
7-21630863-G-T c.2335G>T p.E779* Nonsense 14/82 - 2
7-21630865-A-G c.2337A>G p.E779= Synonymous 14/82 - 1
7-21630866-G-A c.2338G>A p.V780I Missense 14/82 - 1
7-21630869-G-A c.2341G>A p.E781K Missense 14/82 - 5
7-21630874-C-T c.2346C>T p.Y782= Synonymous 14/82 - 1
7-21630876-C-T c.2348C>T p.P783L Missense 14/82 - 1
7-21630878-C-T c.2350C>T p.L784= Synonymous 14/82 - 2
7-21630880-G-A c.2352G>A p.L784= Synonymous 14/82 - 2
7-21630880-G-C c.2352G>C p.L784= Synonymous 14/82 - 3
7-21630880-G-T c.2352G>T p.L784= Synonymous 14/82 - 2
7-21630883-T-C c.2355T>C p.I785= Synonymous 14/82 - 1
7-21630887-G-A c.2359G>A p.D787N Missense 14/82 - 1
7-21630890-G-A c.2362G>A p.E788K Missense 14/82 - 1
7-21630894-T-C c.2366T>C p.L789P Missense 14/82 - 1
7-21630894-T-G c.2366T>G p.L789R Missense 14/82 - 2
7-21630895-G-A c.2367G>A p.L789= Synonymous 14/82 - 1
7-21630896-A-C c.2368A>C p.R790= Synonymous 14/82 - 1
7-21630898-G-A c.2370G>A p.R790= Synonymous 14/82 - 1
7-21630898-G-T c.2370G>T p.R790S Missense 14/82 - 2
7-21630899-G-T c.2371G>T p.A791S Missense 14/82 - 1
7-21630902-A-T c.2374A>T p.I792F Missense 14/82 - 1
7-21630905-G-T c.2377G>T p.D793Y Missense 14/82 - 1
7-21630907-C-G c.2379C>G p.D793E UnclassifiedSNV 14/82 - 1
7-21630907-C-T c.2379C>T p.D793= Synonymous 14/82 - 2
7-21630908-G-A c.2380G>A p.E794K Missense 14/82 - 1
7-21630908-G-C c.2380G>C p.E794Q Missense 14/82 - 1
7-21630908-G-T c.2380G>T p.E794* Nonsense 14/82 - 2
7-21630910-G-A c.2382G>A p.E794= Synonymous 14/82 - 1
7-21630911-C-A c.2383C>A p.Q795K Missense 14/82 - 1
7-21630915-T-C c.2387T>C p.L796P Missense 14/82 - 1
7-21630916-G-T c.2388G>T p.L796= Synonymous 14/82 - 2
7-21630920-G-T c.2392G>T p.A798S Missense 14/82 - 1
7-21630921-C-G c.2393C>G p.A798G Missense 14/82 - 1
7-21630923-G-A c.2395G>A p.A799T Missense 14/82 - 1
7-21630924-C-T c.2396C>T p.A799V Missense 14/82 - 1
7-21630929-A-G c.2401A>G p.T801A Missense 14/82 - 1
7-21630930-C-T c.2402C>T p.T801M Missense 14/82 - 4
7-21630933-G-A c.2405G>A p.W802* Nonsense 14/82 - 1
7-21630934-G-A c.2406G>A p.W802* Nonsense 14/82 - 4
7-21630935-C-T c.2407C>T p.L803= Synonymous 14/82 - 1
7-21630938-A-T c.2410A>T p.T804S Missense 14/82 - 1
7-21630941-T-C c.2413T>C p.W805R Missense 14/82 - 1
7-21630942-G-A c.2414G>A p.W805* Nonsense 14/82 - 2
7-21630943-G-A c.2415G>A p.W805* Nonsense 14/82 - 1
7-21630947-G-A c.2419G>A p.D807N Missense 14/82 - 8
7-21630947-G-C c.2419G>C p.D807H Missense 14/82 - 6
7-21630949-T-A c.2421T>A p.D807E Missense 14/82 - 1
7-21630949-T-G c.2421T>G p.D807E Missense 14/82 - 1
7-21630951-A-T c.2423A>T p.D808V Missense 14/82 - 1
7-21630952-C-A c.2424C>A p.D808E Missense 14/82 - 1
7-21630954-G-A c.2426G>A p.C809Y Missense 14/82 - 5
7-21630957-G-A c.2429G>A p.W810* Nonsense 14/82 - 1
7-21630957-G-T c.2429G>T p.W810L Missense 14/82 - 1
7-21630960-G-C c.2432G>C p.G811A Missense 14/82 - 1
7-21630964-C-G c.2436C>G p.Y812* Nonsense 14/82 - 1
7-21630966-T-G c.2438T>G p.I813S Missense 14/82 - 1
7-21630967-C-G c.2439C>G p.I813M Missense 14/82 - 3
7-21630968-G-C c.2440G>C p.E814Q Missense 14/82 - 1
7-21630971-A-T c.2443A>T p.R815W Missense 14/82 - 1
7-21630974-G-C c.2446G>C p.V816L Missense 14/82 - 1
7-21630974-G-T c.2446G>T p.V816L Missense 14/82 - 1
7-21630978-G-C c.2450G>C p.R817T Missense 14/82 - 3
7-21630982-A-C c.2454A>C p.A818= Synonymous 14/82 - 2
7-21630982-A-G c.2454A>G p.A818= Synonymous 14/82 - 22
7-21630982-A-T c.2454A>T p.A818= Synonymous 14/82 - 17
7-21630983-G-A c.2455G>A p.A819T Missense 14/82 - 1
7-21630987-C-A c.2459C>A p.T820K Missense 14/82 - 1
7-21630987-C-T c.2459C>T p.T820M Missense 14/82 - 3
7-21630988-G-A c.2460G>A p.T820= Synonymous 14/82 - 2
7-21630988-G-C c.2460G>C p.T820= Synonymous 14/82 - 2
7-21630988-G-T c.2460G>T p.T820= Synonymous 14/82 - 2
7-21630989-TC-AA c.2461_2462delinsAA p.S821N Missense 14/82 - 1
7-21630991-C-T c.2463C>T p.S821= Synonymous 14/82 - 2
7-21630992-G-A c.2464G>A p.E822K Missense 14/82 - 1
7-21630993-A-G c.2465A>G p.E822G Missense 14/82 - 1
7-21631000-G-C c.2472G>C p.E824D Missense 14/82 - 1
7-21631000-G-T c.2472G>T p.E824D Missense 14/82 - 1
7-21631002-A-T c.2474A>T p.H825L Missense 14/82 - 1
7-21631004-AG-CA c.2476_2477delinsCA p.R826Q Missense 14/82 - 1
7-21631004-AG-CT c.2476_2477inv p.R826L Missense 14/82 - 1
7-21631009-T-A c.2481T>A p.V827= Synonymous 14/82 - 1
7-21631009-T-C c.2481T>C p.V827= Synonymous 14/82 - 1
7-21631010-G-A c.2482G>A p.E828K Missense 14/82 - 2
7-21631010-G-C c.2482G>C p.E828Q Missense 14/82 - 1
7-21631013-C-T c.2485C>T p.R829C Missense 14/82 - 8
7-21631014-G-A c.2486G>A p.R829H Missense 14/82 - 3
7-21631015-C-A c.2487C>A p.R829= Synonymous 14/82 - 1
7-21631015-C-G c.2487C>G p.R829= Synonymous 14/82 - 1
7-21631015-C-T c.2487C>T p.R829= Synonymous 14/82 - 1
7-21631016-A-G c.2488A>G p.T830A Missense 14/82 - 1
7-21631019-C-A c.2491C>A p.Q831K Missense 14/82 - 1
7-21631019-C-T c.2491C>T p.Q831* Nonsense 14/82 - 1
7-21631020-A-G c.2492A>G p.Q831R Missense 14/82 - 1
7-21631022-A-G c.2494A>G p.K832E Missense 14/82 - 1
7-21631023-A-T c.2495A>T p.K832I Missense 14/82 - 1
7-21631021-GA-G c.2498del p.N833Tfs*2 Frameshift 14/82 - 3
7-21631026-A-C c.2498A>C p.N833T Missense 14/82 - 1
7-21631027-C-T c.2499C>T p.N833= Synonymous 14/82 - 6
7-21631028-G-T c.2500G>T p.V834L Missense 14/82 - 1
7-21631029-T-C c.2501T>C p.V834A Missense 14/82 - 1
7-21631030-G-A c.2502G>A p.V834= Synonymous 14/82 - 1
7-21631031-A-T c.2503A>T p.K835* Nonsense 14/82 - 2
7-21631036-G-A c.2508G>A p.V836= Synonymous 14/82 - 1
7-21631036-G-C c.2508G>C p.V836= Synonymous 14/82 - 1
7-21631036-G-T c.2508G>T p.V836= Synonymous 14/82 - 1
7-21631037-A-T c.2509A>T p.I837F Missense 14/82 - 3
7-21631039-C-G c.2511C>G p.I837M Missense 14/82 - 2
7-21631040-C-T c.2512C>T p.Q838* Nonsense 14/82 - 1
7-21631042-G-A c.2514G>A p.Q838= Synonymous 14/82 - 1
7-21631042-G-C c.2514G>C p.Q838H Missense 14/82 - 2
7-21631042-G-T c.2514G>T p.Q838H Missense 14/82 - 2
7-21631048-C-T c.2520C>T p.T840= Synonymous 14/82 - 1
7-21631050-T-A c.2522T>A p.M841K Missense 14/82 - 1
7-21631051-G-A c.2523G>A p.M841I Missense 14/82 - 2
7-21631051-G-C c.2523G>C p.M841I Missense 14/82 - 1
7-21631051-G-T c.2523G>T p.M841I Missense 14/82 - 1
7-21631053-G-A c.2525G>A p.R842K Missense 14/82 - 1
7-21631053-G-T c.2525G>T p.R842M Missense 14/82 - 2
7-21631052-A-C c.2524A>C p.R842= Synonymous 14/82 - 1
7-21631054-G-A c.2526G>A p.R842= Synonymous 14/82 - 1
7-21631056-G-A c.2528G>A p.G843D Missense 14/82 - 3
7-21631056-G-C c.2528G>C p.G843A Missense 14/82 - 1
7-21631056-G-T c.2528G>T p.G843V Missense 14/82 - 2
7-21631059-G-T c.2531G>T p.W844L Missense 14/82 - 1
7-21631060-G-A c.2532G>A p.W844* Nonsense 14/82 - 4
7-21631062-C-A c.2534C>A p.A845D Missense 14/82 - 4
7-21631062-C-G c.2534C>G p.A845G Missense 14/82 - 1
7-21631063-C-A c.2535C>A p.A845= Synonymous 14/82 - 2
7-21631063-C-G c.2535C>G p.A845= Synonymous 14/82 - 1
7-21631063-C-T c.2535C>T p.A845= Synonymous 14/82 - 1
7-21631064-AGG-TGT c.2536_2538delinsTGT p.R846C Missense 14/82 - 1
7-21631064-A-T c.2536A>T p.R846W Missense 14/82 - 1
7-21631067-T-C c.2539T>C p.C847R Missense 14/82 - 2
7-21631068-G-A c.2540G>A p.C847Y Missense 14/82 - 1
7-21631068-G-T c.2540G>T p.C847F Missense 14/82 - 1
7-21631070-G-A c.2542G>A p.V848M Missense 14/82 - 9
7-21631070-G-C c.2542G>C p.V848L Missense 14/82 - 1
7-21631070-G-T c.2542G>T p.V848L Missense 14/82 - 2
7-21631072-G-A c.2544G>A p.V848= Synonymous 14/82 - 4
7-21631072-G-C c.2544G>C p.V848= Synonymous 14/82 - 1
7-21631072-G-T c.2544G>T p.V848= Synonymous 14/82 - 1
7-21631079-C-A c.2551C>A p.P851T Missense 14/82 - 1
7-21631079-C-T c.2551C>T p.P851S Missense 14/82 - 1
7-21631080-C-T c.2552C>T p.P851L Missense 14/82 - 2
7-21631082-AG-CT c.2554_2555inv p.R852L Missense 14/82 - 1
7-21631086-G-A c.2558G>A p.R853K Missense 14/82 - 1
7-21631085-A-C c.2557A>C p.R853= Synonymous 14/82 - 1
7-21631087-A-G c.2559A>G p.R853= Synonymous 14/82 - 1
7-21631088-G-A c.2560G>A p.E854K Missense 14/82 - 1
7-21631091-C-T c.2563C>T p.H855Y Missense 14/82 - 2
7-21631095-G-A c.2567G>A p.R856K Missense 14/82 - 1
7-21631097-C-T c.2569C>T p.R857* Nonsense 14/82 - 6
7-21631098-G-A c.2570G>A p.R857Q Missense 14/82 - 1
7-21631103-G-A c.2575G>A p.A859T Missense 14/82 - 2
7-21631106-G-T c.2578G>T p.A860S Missense 14/82 - 1
7-21631107-C-T c.2579C>T p.A860V Missense 14/82 - 6
7-21631112-AC-TT c.2584_2585delinsTT p.T862F Missense 14/82 - 1
7-21631112-A-T c.2584A>T p.T862S Missense 14/82 - 2
7-21631113-CC-TG c.2585_2586delinsTG p.T862M Missense 14/82 - 1
7-21631113-C-G c.2585C>G p.T862S Missense 14/82 - 2
7-21631113-C-T c.2585C>T p.T862I Missense 14/82 - 2
7-21631114-C-T c.2586C>T p.T862= Synonymous 14/82 - 1
7-21631118-G-T c.2590G>T p.E864* Nonsense 14/82 - 1
7-21631120-G-A c.2592G>A p.E864= Synonymous 14/82 - 1
7-21631120-G-T c.2592G>T p.E864D Missense 14/82 - 1
7-21631121-G-C c.2593G>C p.D865H Missense 14/82 - 1
7-21631122-A-G c.2594A>G p.D865G Missense 14/82 - 1
7-21631125-A-G c.2597A>G p.K866R Missense 14/82 - 1
7-21631126-G-A c.2598G>A p.K866= Synonymous 14/82 - 1
7-21631127-G-A c.2599G>A p.G867S Missense 14/82 - 2
7-21631128-G-T c.2600G>T p.G867V Missense 14/82 - 1
7-21631130-G-A c.2602G>A p.D868N Missense 14/82 - 1
7-21631136-T-C c.2608T>C p.F870L Missense 14/82 - 1
7-21631138-T-A c.2610T>A p.F870L Missense 14/82 - 1
7-21631138-T-G c.2610T>G p.F870L Missense 14/82 - 1
7-21631137-T-G c.2609T>G p.F870C Missense 14/82 - 1
7-21631139-A-G c.2611A>G p.T871A Missense 14/82 - 1
7-21631140-AC-A c.2612del p.T871Kfs*6 Frameshift 14/82 - 2
7-21631140-C-A c.2612C>A p.T871K Missense 14/82 - 1
7-21631141-A-C c.2613A>C p.T871= Synonymous 14/82 - 1
7-21631141-A-G c.2613A>G p.T871= Synonymous 14/82 - 1
7-21631141-A-T c.2613A>T p.T871= Synonymous 14/82 - 1
7-21631142-A-G c.2614A>G p.K872E Missense 14/82 - 1
7-21631144-A-AT c.2616_2617insT p.K873* Nonsense 14/82 - 2
7-21631140-CA-C c.2619del p.K873Nfs*4 Frameshift 14/82 - 5
7-21631147-A-G c.2619A>G p.K873= Synonymous 14/82 - 1
7-21631149-A-G c.2621A>G p.Y874C Missense 14/82 - 1
7-21631154-TT-CC c.2626_2627delinsCC p.L876P Missense 14/82 - 1
7-21631157-A-C c.2629A>C p.I877L Missense 14/82 - 1
7-21631158-T-G c.2630T>G p.I877S Missense 14/82 - 2
7-21631159-C-T c.2631C>T p.I877= Synonymous 14/82 - 1
7-21631162-A-C c.2634A>C p.Q878H Missense 14/82 - 1
7-21631162-A-G c.2634A>G p.Q878= Synonymous 14/82 - 1
7-21631162-A-T c.2634A>T p.Q878H Missense 14/82 - 1
7-21631164-G-A c.2636G>A p.G879E Missense 14/82 - 4
7-21631168-T-A c.2640T>A p.D880E Missense 14/82 - 1
7-21631171-C-G c.2643C>G p.G881= Synonymous 14/82 - 3
7-21631173-G-T c.2645G>T p.C882F Missense 14/82 - 1
7-21631174-C-T c.2646C>T p.C882= Synonymous 14/82 - 1
7-21631177-G-C c.2649G>C p.K883N Missense 14/82 - 1
7-21631177-G-T c.2649G>T p.K883N Missense 14/82 - 1
7-21631180-C-G c.2652C>G p.I884M Missense 14/82 - 1
7-21631181-C-A c.2653C>A p.H885N Missense 14/82 - 1
7-21631181-C-T c.2653C>T p.H885Y Missense 14/82 - 1
7-21631184-A-G c.2656A>G p.N886D Missense 14/82 - 1
7-21631185-A-C c.2657A>C p.N886T Missense 14/82 - 1
7-21631185-A-G c.2657A>G p.N886S Missense 14/82 - 1
7-21631189-G-C c.2661G>C p.L887F Missense 14/82 - 1
7-21631189-G-T c.2661G>T p.L887F Missense 14/82 - 1
7-21631190-G-A c.2662G>A p.V888I Missense 14/82 - 1
7-21631190-G-T c.2662G>T p.V888F Missense 14/82 - 1
7-21631193-G-A c.2665G>A p.E889K Missense 14/82 - 1
7-21631193-G-T c.2665G>T p.E889* Nonsense 14/82 - 2
7-21631195-G-C c.2667G>C p.E889D Missense 14/82 - 1
7-21631195-G-T c.2667G>T p.E889D Missense 14/82 - 1
7-21632501-GA-G c.2667+1315del - IntronicDeletion - 14/81 1
7-21635462-G-A c.2668-3943G>A - IntronicSNV - 14/81 1
7-21635521-T-G c.2668-3884T>G - IntronicSNV - 14/81 2
7-21635600-G-T c.2668-3805G>T - IntronicSNV - 14/81 2
7-21639405-G-A c.2668G>A p.E890K Missense 15/82 - 1
7-21639405-G-C c.2668G>C p.E890Q Missense 15/82 - 1
7-21639406-A-G c.2669A>G p.E890G Missense 15/82 - 1
7-21639411-AG-CA c.2674_2675delinsCA p.R892Q Missense 15/82 - 1
7-21639411-A-T c.2674A>T p.R892W Missense 15/82 - 1
7-21639414-A-T c.2677A>T p.K893* Nonsense 15/82 - 1
7-21639417-C-A c.2680C>A p.L894I Missense 15/82 - 1
7-21639419-C-A c.2682C>A p.L894= Synonymous 15/82 - 3
7-21639419-C-G c.2682C>G p.L894= Synonymous 15/82 - 3
7-21639419-C-T c.2682C>T p.L894= Synonymous 15/82 - 3
7-21639420-T-C c.2683T>C p.F895L Missense 15/82 - 1
7-21639422-C-A c.2685C>A p.F895L Missense 15/82 - 1
7-21639422-C-G c.2685C>G p.F895L Missense 15/82 - 1
7-21639422-C-CT c.2685_2686insT p.K896* Nonsense 15/82 - 1
7-21639422-C-T c.2685C>T p.F895= Synonymous 15/82 - 1
7-21639426-G-C c.2689G>C p.A897P Missense 15/82 - 3
7-21639427-C-A c.2690C>A p.A897D Missense 15/82 - 2
7-21639430-A-G c.2693A>G p.N898S Missense 15/82 - 2
7-21639432-C-T c.2695C>T p.P899S Missense 15/82 - 5
7-21639436-C-G c.2699C>G p.S900C Missense 15/82 - 1
7-21639438-C-G c.2701C>G p.L901V Missense 15/82 - 1
7-21639439-T-C c.2702T>C p.L901P Missense 15/82 - 1
7-21639445-C-T c.2708C>T p.T903I Missense 15/82 - 1
7-21639444-AC-A c.2709del p.W904Gfs*5 Frameshift 15/82 - 1
7-21639448-G-A c.2711G>A p.W904* Nonsense 15/82 - 1
7-21639449-G-A c.2712G>A p.W904* Nonsense 15/82 - 1
7-21639453-A-G c.2716A>G p.I906V Missense 15/82 - 1
7-21639460-T-C c.2723T>C p.V908A Missense 15/82 - 1
7-21639466-T-G c.2729T>G p.F910C Missense 15/82 - 1
7-21639469-T-C c.2732T>C p.I911T Missense 15/82 - 4
7-21639471-G-T c.2734G>T p.D912Y Missense 15/82 - 1
7-21639473-C-T c.2736C>T p.D912= Synonymous 15/82 - 3
7-21639474-G-A c.2737G>A p.D913N Missense 15/82 - 1
7-21639477-CA-C c.2740del p.I914Lfs*10 Frameshift 15/82 - 1
7-21639478-T-G c.2741T>G p.I914S Missense 15/82 - 1
7-21639480-GTG-ATC c.2743_2745delinsATC p.V915I Missense 15/82 - 1
7-21639487-A-T c.2750A>T p.E917V Missense 15/82 - 6
7-21639490-G-T c.2753G>T p.G918V Missense 15/82 - 4
7-21639491-C-A c.2754C>A p.G918= Synonymous 15/82 - 2
7-21639491-C-CA c.2754_2755insA p.F919Ifs*36 Frameshift 15/82 - 1
7-21639491-C-G c.2754C>G p.G918= Synonymous 15/82 - 2
7-21639491-C-T c.2754C>T p.G918= Synonymous 15/82 - 2
7-21639492-T-C c.2755T>C p.F919L Missense 15/82 - 2
7-21639491-C-CT c.2760dup p.Q921Sfs*34 Frameshift 15/82 - 2
7-21639501-G-A c.2764G>A p.A922T Missense 15/82 - 1
7-21639501-G-T c.2764G>T p.A922S Missense 15/82 - 3
7-21639504-A-G c.2767A>G p.I923V Missense 15/82 - 1
7-21639507-A-G c.2770A>G p.M924V Missense 15/82 - 1
7-21639509-G-A c.2772G>A p.M924I Missense 15/82 - 4
7-21639509-G-C c.2772G>C p.M924I Missense 15/82 - 1
7-21639509-G-T c.2772G>T p.M924I Missense 15/82 - 1
7-21639510-C-G c.2773C>G p.H925D Missense 15/82 - 1
7-21639511-A-T c.2774A>T p.H925L Missense 15/82 - 1
7-21639512-C-T c.2775C>T p.H925= Synonymous 15/82 - 5
7-21639513-G-A c.2776G>A p.D926N Missense 15/82 - 4
7-21639515-C-A c.2778C>A p.D926E Missense 15/82 - 2
7-21639515-C-G c.2778C>G p.D926E Missense 15/82 - 2
7-21639519-G-T c.2782G>T p.D928Y Missense 15/82 - 1
7-21639520-A-G c.2783A>G p.D928G Missense 15/82 - 1
7-21639520-A-T c.2783A>T p.D928V Missense 15/82 - 3
7-21639522-T-A c.2785T>A p.F929I Missense 15/82 - 2
7-21639524-C-G c.2787C>G p.F929L Missense 15/82 - 1
7-21639524-C-T c.2787C>T p.F929= Synonymous 15/82 - 1
7-21639525-T-C c.2788T>C p.F930L Missense 15/82 - 1
7-21639527-T-A c.2790T>A p.F930L Missense 15/82 - 1
7-21639527-T-G c.2790T>G p.F930L Missense 15/82 - 1
7-21639528-C-G c.2791C>G p.L931V Missense 15/82 - 1
7-21639529-T-C c.2792T>C p.L931P Missense 15/82 - 1
7-21639528-C-T c.2791C>T p.L931= Synonymous 15/82 - 1
7-21639530-G-A c.2793G>A p.L931= Synonymous 15/82 - 1
7-21639530-G-C c.2793G>C p.L931= Synonymous 15/82 - 1
7-21639530-G-T c.2793G>T p.L931= Synonymous 15/82 - 1
7-21639531-A-C c.2794A>C p.K932Q Missense 15/82 - 1
7-21639532-A-C c.2795A>C p.K932T Missense 15/82 - 1
7-21639535-A-T c.2798A>T p.N933I Missense 15/82 - 1
7-21639537-A-G c.2800A>G p.T934A Missense 15/82 - 1
7-21639538-C-A c.2801C>A p.T934K Missense 15/82 - 1
7-21639539-A-C c.2802A>C p.T934= Synonymous 15/82 - 2
7-21639539-A-G c.2802A>G p.T934= Synonymous 15/82 - 3
7-21639539-A-T c.2802A>T p.T934= Synonymous 15/82 - 2
7-21639540-G-A c.2803G>A p.E935K Missense 15/82 - 1
7-21639542-G-C c.2805G>C p.E935D Missense 15/82 - 1
7-21639542-G-T c.2805G>T p.E935D Missense 15/82 - 1
7-21639544-A-C c.2807A>C p.K936T Missense 15/82 - 1
7-21639545-A-C c.2808A>C p.K936N Missense 15/82 - 1
7-21639545-A-G c.2808A>G p.K936= Synonymous 15/82 - 1
7-21639545-A-T c.2808A>T p.K936N Missense 15/82 - 1
7-21639550-T-C c.2813T>C p.L938S Missense 15/82 - 1
7-21639550-T-G c.2813T>G p.L938W Missense 15/82 - 1
7-21639551-G-C c.2814G>C p.L938F Missense 15/82 - 2
7-21639551-G-T c.2814G>T p.L938F Missense 15/82 - 3
7-21639556-C-T c.2819C>T p.P940L Missense 15/82 - 3
7-21639557-G-A c.2820G>A p.P940= Synonymous 15/82 - 4
7-21639557-G-C c.2820G>C p.P940= Synonymous 15/82 - 2
7-21639557-G-T c.2820G>T p.P940= Synonymous 15/82 - 3
7-21639559-C-A c.2822C>A p.A941E Missense 15/82 - 1
7-21639560-A-C c.2823A>C p.A941= Synonymous 15/82 - 1
7-21639560-A-G c.2823A>G p.A941= Synonymous 15/82 - 1
7-21639560-A-T c.2823A>T p.A941= Synonymous 15/82 - 1
7-21639561-C-A c.2824C>A p.P942T Missense 15/82 - 2
7-21639561-C-T c.2824C>T p.P942S Missense 15/82 - 1
7-21639562-C-T c.2825C>T p.P942L Missense 15/82 - 1
7-21639563-G-A c.2826G>A p.P942= Synonymous 15/82 - 6
7-21639563-G-C c.2826G>C p.P942= Synonymous 15/82 - 4
7-21639563-G-T c.2826G>T p.P942= Synonymous 15/82 - 4
7-21639564-T-C c.2827T>C p.F943L Missense 15/82 - 1
7-21639566-T-A c.2829T>A p.F943L Missense 15/82 - 1
7-21639566-T-G c.2829T>G p.F943L Missense 15/82 - 1
7-21639563-G-GT c.2832dup p.Q945Sfs*10 Frameshift 15/82 - 2
7-21639570-C-T c.2833C>T p.Q945* Nonsense 15/82 - 3
7-21639570-TC-T c.2833del p.Q945Kfs*4 Frameshift 15/82 - 2
7-21639572-A-G c.2835A>G p.Q945= Synonymous 15/82 - 4
7-21639573-G-A c.2836G>A p.A946T Missense 15/82 - 1
7-21639573-G-C c.2836G>C p.A946P Missense 15/82 - 1
7-21639574-C-A c.2837C>A p.A946E Missense 15/82 - 1
7-21639576-C-G c.2839C>G p.Q947E Missense 15/82 - 1
7-21639577-A-T c.2840A>T p.Q947L Missense 15/82 - 3
7-21639578-A-G c.2841A>G p.Q947= Synonymous 15/82 - 1
7-21639576-CA-C c.2842del p.M948* Frameshift 15/82 - 1
7-21639581-G-A c.2844G>A p.M948I Missense 15/82 - 2
7-21639581-G-C c.2844G>C p.M948I Missense 15/82 - 2
7-21639581-G-T c.2844G>T p.M948I Missense 15/82 - 2
7-21639582-A-G c.2845A>G p.I949V Missense 15/82 - 1
7-21639584-C-T c.2847C>T p.I949= Synonymous 15/82 - 1
7-21639587-G-T c.2850G>T p.L950F Missense 15/82 - 1
7-21639591-C-T c.2854C>T p.P952S Missense 15/82 - 3
7-21639592-C-T c.2855C>T p.P952L Missense 15/82 - 1
7-21639594-C-T c.2857C>T p.P953S Missense 15/82 - 4
7-21639596-T-G c.2859T>G p.P953= Synonymous 15/82 - 1
7-21639597-G-A c.2860G>A p.E954K Missense 15/82 - 1
7-21639598-A-C c.2861A>C p.E954A Missense 15/82 - 1
7-21639599-G-A c.2862G>A p.E954= Synonymous 15/82 - 2
7-21639600-A-T c.2863A>T p.I955F Missense 15/82 - 1
7-21639608-TA-T c.2874del p.K958Nfs*4 Frameshift 15/82 - 1
7-21639611-A-C c.2874A>C p.K958N Missense 15/82 - 1
7-21639612-C-T c.2875C>T p.P959S Missense 15/82 - 1
7-21639613-C-T c.2876C>T p.P959L Missense 15/82 - 3
7-21639615-T-A c.2878T>A p.S960T Missense 15/82 - 1
7-21639617-C-T c.2880C>T p.S960= Synonymous 15/82 - 1
7-21639618-C-G c.2881C>G p.L961V Missense 15/82 - 6
7-21639623-C-T c.2886C>T p.D962= Synonymous 15/82 - 1
7-21639624-A-G c.2887A>G p.R963G Missense 15/82 - 2
7-21639624-A-T c.2887A>T p.R963* Nonsense 15/82 - 1
7-21639627-G-A c.2890G>A p.E964K Missense 15/82 - 5
7-21639631-C-A c.2894C>A p.A965D Missense 15/82 - 1
7-21639634-G-A c.2897G>A p.G966E Missense 15/82 - 1
7-21639635-G-A c.2898G>A p.G966= Synonymous 15/82 - 2
7-21639635-G-C c.2898G>C p.G966= Synonymous 15/82 - 1
7-21639635-G-T c.2898G>T p.G966= Synonymous 15/82 - 1
7-21639636-G-A c.2899G>A p.D967N Missense 15/82 - 1
7-21639636-G-T c.2899G>T p.D967Y Missense 15/82 - 1
7-21639640-G-A c.2903G>A p.G968D Missense 15/82 - 1
7-21639641-C-T c.2904C>T p.G968= Synonymous 15/82 - 1
7-21639644-C-G c.2907C>G p.F969L Missense 15/82 - 1
7-21639644-C-T c.2907C>T p.F969= Synonymous 15/82 - 2
7-21639646-A-G c.2909A>G p.Y970C Missense 15/82 - 3
7-21639649-A-G c.2912A>G p.D971G Missense 15/82 - 4
7-21639650-T-A c.2913T>A p.D971E Missense 15/82 - 3
7-21639650-T-G c.2913T>G p.D971E Missense 15/82 - 2
7-21639654-GTA-TTT c.2917_2919delinsTTT p.V973F Missense 15/82 - 1
7-21639655-T-C c.2918T>C p.V973A Missense 15/82 - 1
7-21639657-G-T c.2920G>T p.E974* Nonsense 15/82 - 1
7-21639660-G-A c.2923G>A p.E975K Missense 15/82 - 1
7-21639660-G-C c.2923G>C p.E975Q Missense 15/82 - 2
7-21639660-G-T c.2923G>T p.E975* Nonsense 15/82 - 2
7-21639663-A-G c.2926A>G p.M976V Missense 15/82 - 1
7-21639665-G-A c.2928G>A p.M976I Missense 15/82 - 1
7-21639665-G-C c.2928G>C p.M976I Missense 15/82 - 1
7-21639665-G-T c.2928G>T p.M976I Missense 15/82 - 2
7-21639669-T-C c.2932T>C p.C978R Missense 15/82 - 1
7-21639669-T-G c.2932T>G p.C978G Missense 15/82 - 2
7-21639670-G-A c.2933G>A p.C978Y Missense 15/82 - 1
7-21639672-A-G c.2935A>G p.N979D Missense 15/82 - 3
7-21639673-A-T c.2936A>T p.N979I Missense 15/82 - 1
7-21639675-A-G c.2938A>G p.S980G Missense 15/82 - 1
7-21639676-G-A c.2939G>A p.S980N Missense 15/82 - 1
7-21639679-T-A c.2942T>A p.F981Y Missense 15/82 - 2
7-21639681-AGA-TGT c.2944_2946delinsTGT p.R982C Missense 15/82 - 1
7-21639685-T-A c.2948T>A p.M983K Missense 15/82 - 1
7-21639685-T-G c.2948T>G p.M983R Missense 15/82 - 1
7-21639687-TC-GG c.2950_2951delinsGG p.S984G Missense 15/82 - 1
7-21639688-C-T c.2951C>T p.S984F Missense 15/82 - 1
7-21639690-G-T c.2953G>T p.A985S Missense 15/82 - 1
7-21639692-C-A c.2955C>A p.A985= Synonymous 15/82 - 1
7-21639692-C-G c.2955C>G p.A985= Synonymous 15/82 - 1
7-21639692-C-T c.2955C>T p.A985= Synonymous 15/82 - 1
7-21639693-C-G c.2956C>G p.Q986E Missense 15/82 - 8
7-21639695-G-C c.2958G>C p.Q986H Missense 15/82 - 1
7-21639695-G-T c.2958G>T p.Q986H Missense 15/82 - 2
7-21639698-G-A c.2961G>A p.M987I Missense 15/82 - 1
7-21639700-A-G c.2963A>G p.N988S Missense 15/82 - 5
7-21639703-G-A c.2966G>A p.R989Q Missense 15/82 - 1
7-21639703-G-T c.2966G>T p.R989L Missense 15/82 - 1
7-21639705-A-C c.2968A>C p.I990L Missense 15/82 - 1
7-21639705-A-G c.2968A>G p.I990V Missense 15/82 - 1
7-21639706-T-C c.2969T>C p.I990T Missense 15/82 - 1
7-21639713-A-C c.2976A>C p.T992= Synonymous 15/82 - 1
7-21639713-A-G c.2976A>G p.T992= Synonymous 15/82 - 1
7-21639713-A-T c.2976A>T p.T992= Synonymous 15/82 - 1
7-21639716-C-T c.2979C>T p.H993= Synonymous 15/82 - 2
7-21639727-A-T c.2990A>T p.K997I Missense 15/82 - 1
7-21639729-A-C c.2992A>C p.N998H Missense 15/82 - 1
7-21639729-A-G c.2992A>G p.N998D Missense 15/82 - 1
7-21639730-A-G c.2993A>G p.N998S Missense 15/82 - 1
7-21639732-T-A c.2995T>A p.Y999N Missense 15/82 - 1
7-21639738-G-A c.3000+1G>A - IntronicSNV - 15/81 1
7-21639801-A-G c.3000+64A>G - IntronicSNV - 15/81 2
7-21639818-T-A c.3000+81T>A - IntronicSNV - 15/81 1
7-21639818-T-C c.3000+81T>C - IntronicSNV - 15/81 3
7-21639835-T-C c.3000+98T>C - IntronicSNV - 15/81 2
7-21640295-A-G c.3002A>G p.N1001S Missense 16/82 - 3
7-21640297-G-A c.3004G>A p.D1002N Missense 16/82 - 1
7-21640299-T-A c.3006T>A p.D1002E Missense 16/82 - 1
7-21640299-T-C c.3006T>C p.D1002= Synonymous 16/82 - 1
7-21640301-T-A c.3008T>A p.M1003K Missense 16/82 - 1
7-21640303-G-A c.3010G>A p.D1004N Missense 16/82 - 2
7-21640303-G-C c.3010G>C p.D1004H Missense 16/82 - 6
7-21640303-G-T c.3010G>T p.D1004Y Missense 16/82 - 5
7-21640308-C-A c.3015C>A p.N1005K Missense 16/82 - 3
7-21640312-T-G c.3019T>G p.L1007V Missense 16/82 - 1
7-21640313-T-A c.3020T>A p.L1007* Nonsense 16/82 - 1
7-21640313-T-G c.3020T>G p.L1007* Nonsense 16/82 - 3
7-21640314-A-C c.3021A>C p.L1007F Missense 16/82 - 1
7-21640314-A-T c.3021A>T p.L1007F Missense 16/82 - 2
7-21640316-G-C c.3023G>C p.G1008A Missense 16/82 - 1
7-21640318-C-G c.3025C>G p.L1009V Missense 16/82 - 1
7-21640319-T-A c.3026T>A p.L1009Q Missense 16/82 - 1
7-21640318-C-T c.3025C>T p.L1009= Synonymous 16/82 - 1
7-21640320-G-A c.3027G>A p.L1009= Synonymous 16/82 - 1
7-21640320-G-C c.3027G>C p.L1009= Synonymous 16/82 - 1
7-21640320-G-T c.3027G>T p.L1009= Synonymous 16/82 - 1
7-21640321-G-A c.3028G>A p.A1010T Missense 16/82 - 1
7-21640323-A-C c.3030A>C p.A1010= Synonymous 16/82 - 1
7-21640323-A-G c.3030A>G p.A1010= Synonymous 16/82 - 2
7-21640323-A-T c.3030A>T p.A1010= Synonymous 16/82 - 1
7-21640328-T-C c.3035T>C p.V1012A Missense 16/82 - 1
7-21640333-C-G c.3040C>G p.Q1014E Missense 16/82 - 1
7-21640336-G-A c.3043G>A p.E1015K Missense 16/82 - 2
7-21640338-G-C c.3045G>C p.E1015D Missense 16/82 - 3
7-21640338-G-T c.3045G>T p.E1015D Missense 16/82 - 6
7-21640342-A-T c.3049A>T p.M1017L Missense 16/82 - 1
7-21640344-G-A c.3051G>A p.M1017I Missense 16/82 - 1
7-21640344-G-C c.3051G>C p.M1017I Missense 16/82 - 1
7-21640344-G-T c.3051G>T p.M1017I Missense 16/82 - 2
7-21640347-C-T c.3054C>T p.N1018= Synonymous 16/82 - 1
7-21640351-G-C c.3058G>C p.V1020L Missense 16/82 - 2
7-21640352-T-C c.3059T>C p.V1020A Missense 16/82 - 1
7-21640356-G-A c.3063G>A p.V1021= Synonymous 16/82 - 2
7-21640356-G-C c.3063G>C p.V1021= Synonymous 16/82 - 1
7-21640356-G-T c.3063G>T p.V1021= Synonymous 16/82 - 1
7-21640361-T-C c.3068T>C p.V1023A Missense 16/82 - 26
7-21640362-C-A c.3069C>A p.V1023= Synonymous 16/82 - 2
7-21640362-C-G c.3069C>G p.V1023= Synonymous 16/82 - 2
7-21640362-C-T c.3069C>T p.V1023= Synonymous 16/82 - 2
7-21640363-A-C c.3070A>C p.I1024L Missense 16/82 - 1
7-21640365-C-A c.3072C>A p.I1024= Synonymous 16/82 - 1
7-21640365-C-T c.3072C>T p.I1024= Synonymous 16/82 - 1
7-21640370-AA-TG c.3077_3078delinsTG p.K1026M Missense 16/82 - 1
7-21640372-G-A c.3079G>A p.V1027I Missense 16/82 - 1
7-21640378-G-C c.3085G>C p.D1029H Missense 16/82 - 1
7-21640383-C-T c.3090C>T p.F1030= Synonymous 16/82 - 2
7-21640385-GA-TG c.3092_3093delinsTG p.R1031M Missense 16/82 - 1
7-21640391-C-T c.3098C>T p.T1033I Missense 16/82 - 2
7-21640392-C-T c.3099C>T p.T1033= Synonymous 16/82 - 2
7-21640393-CT-TC c.3100_3101delinsTC p.L1034S Missense 16/82 - 2
7-21640393-C-T c.3100C>T p.L1034= Synonymous 16/82 - 1
7-21640395-G-A c.3102G>A p.L1034= Synonymous 16/82 - 1
7-21640395-G-C c.3102G>C p.L1034= Synonymous 16/82 - 1
7-21640395-G-T c.3102G>T p.L1034= Synonymous 16/82 - 1
7-21640396-G-A c.3103G>A p.E1035K Missense 16/82 - 1
7-21640398-G-A c.3105G>A p.E1035= Synonymous 16/82 - 1
7-21640398-GACCCACACTT-G c.3109_3118del p.H1037Sfs*10 Frameshift 16/82 - 1
7-21640402-C-A c.3109C>A p.H1037N Missense 16/82 - 2
7-21640402-C-G c.3109C>G p.H1037D Missense 16/82 - 1
7-21640404-C-A c.3111C>A p.H1037Q Missense 16/82 - 1
7-21640404-C-T c.3111C>T p.H1037= Synonymous 16/82 - 2
7-21640405-A-G c.3112A>G p.T1038A Missense 16/82 - 36
7-21640407-T-A c.3114T>A p.T1038= Synonymous 16/82 - 3
7-21640407-T-C c.3114T>C p.T1038= Synonymous 16/82 - 4
7-21640407-T-G c.3114T>G p.T1038= Synonymous 16/82 - 5
7-21640417-G-A c.3124G>A p.V1042M Missense 16/82 - 1
7-21640418-T-C c.3125T>C p.V1042A Missense 16/82 - 1
7-21640420-G-A c.3127G>A p.D1043N Missense 16/82 - 2
7-21640420-G-C c.3127G>C p.D1043H Missense 16/82 - 1
7-21640423-G-C c.3130G>C p.D1044H Missense 16/82 - 1
7-21640423-G-T c.3130G>T p.D1044Y Missense 16/82 - 1
7-21640426-C-T c.3133C>T p.R1045* Nonsense 16/82 - 7
7-21640427-G-A c.3134G>A p.R1045Q Missense 16/82 - 4
7-21640427-G-T c.3134G>T p.R1045L Missense 16/82 - 2
7-21640432-G-A c.3139G>A p.E1047K Missense 16/82 - 1
7-21640433-A-C c.3140A>C p.E1047A Missense 16/82 - 1
7-21640433-A-G c.3140A>G p.E1047G Missense 16/82 - 1
7-21640435-T-C c.3142T>C p.F1048L Missense 16/82 - 1
7-21640437-T-G c.3144T>G p.F1048L Missense 16/82 - 1
7-21640437-T-A c.3144T>A p.F1048L Missense 16/82 - 2
7-21640438-A-C c.3145A>C p.M1049L Missense 16/82 - 1
7-21640438-A-T c.3145A>T p.M1049L Missense 16/82 - 1
7-21640445-A-G c.3152A>G p.H1051R Missense 16/82 - 1
7-21640448-T-A c.3155T>A p.F1052Y Missense 16/82 - 2
7-21640450-C-A c.3157C>A p.L1053I Missense 16/82 - 1
7-21640450-C-T c.3157C>T p.L1053F Missense 16/82 - 5
7-21640452-C-A c.3159C>A p.L1053= Synonymous 16/82 - 2
7-21640452-C-G c.3159C>G p.L1053= Synonymous 16/82 - 1
7-21640452-C-T c.3159C>T p.L1053= Synonymous 16/82 - 1
7-21640454-T-C c.3161T>C p.L1054S Missense 16/82 - 1
7-21640460-G-A c.3167G>A p.G1056D Missense 16/82 - 4
7-21640466-C-A c.3173C>A p.A1058D Missense 16/82 - 2
7-21640472-CT-AA c.3179_3180delinsAA p.S1060* Nonsense 16/82 - 1
7-21640477-G-A c.3184G>A p.D1062N Missense 16/82 - 3
7-21640477-G-T c.3184G>T p.D1062Y Missense 16/82 - 1
7-21640480-G-A c.3187G>A p.E1063K Missense 16/82 - 3
7-21640482-A-C c.3189A>C p.E1063D Missense 16/82 - 2
7-21640482-A-T c.3189A>T p.E1063D Missense 16/82 - 2
7-21640483-A-G c.3190A>G p.M1064V Missense 16/82 - 1
7-21640484-T-C c.3191T>C p.M1064T Missense 16/82 - 1
7-21640486-G-C c.3193G>C p.D1065H Missense 16/82 - 1
7-21640486-G-T c.3193G>T p.D1065Y Missense 16/82 - 5
7-21640494-T-C c.3201T>C p.H1067= Synonymous 16/82 - 1
7-21640496-C-T c.3203C>T p.A1068V Missense 16/82 - 1
7-21640498-A-G c.3205A>G p.N1069D Missense 16/82 - 1
7-21640502-A-G c.3209A>G p.E1070G Missense 16/82 - 1
7-21640503-A-G c.3210A>G p.E1070= Synonymous 16/82 - 2
7-21640504-G-A c.3211G>A p.E1071K Missense 16/82 - 1
7-21640504-G-T c.3211G>T p.E1071* Nonsense 16/82 - 4
7-21640506-A-C c.3213A>C p.E1071D Missense 16/82 - 1
7-21640506-A-T c.3213A>T p.E1071D Missense 16/82 - 1
7-21640507-A-G c.3214A>G p.I1072V Missense 16/82 - 4
7-21640510-CC-TT c.3217_3218delinsTT p.P1073F Missense 16/82 - 2
7-21640510-C-T c.3217C>T p.P1073S Missense 16/82 - 2
7-21640511-C-T c.3218C>T p.P1073L Missense 16/82 - 4
7-21640512-C-T c.3219C>T p.P1073= Synonymous 16/82 - 1
7-21640513-G-A c.3220G>A p.E1074K Missense 16/82 - 3
7-21640513-G-T c.3220G>T p.E1074* Nonsense 16/82 - 2
7-21640525-A-C c.3232A>C p.T1078P Missense 16/82 - 1
7-21640525-A-T c.3232A>T p.T1078S Missense 16/82 - 1
7-21640528-C-G c.3235C>G p.L1079V Missense 16/82 - 2
7-21640529-T-C c.3236T>C p.L1079P Missense 16/82 - 2
7-21640530-T-A c.3237T>A p.L1079= Synonymous 16/82 - 3
7-21640530-T-C c.3237T>C p.L1079= Synonymous 16/82 - 8
7-21640530-T-G c.3237T>G p.L1079= Synonymous 16/82 - 3
7-21640531-G-A c.3238G>A p.E1080K Missense 16/82 - 1
7-21640531-G-C c.3238G>C p.E1080Q Missense 16/82 - 1
7-21640531-G-T c.3238G>T p.E1080* Nonsense 16/82 - 1
7-21640533-G-A c.3240G>A p.E1080= Synonymous 16/82 - 2
7-21640543-G-A c.3250G>A p.E1084K Missense 16/82 - 1
7-21640543-G-T c.3250G>T p.E1084* Nonsense 16/82 - 4
7-21640548-G-A c.3255G>A p.Q1085= Synonymous 16/82 - 1
7-21640549-G-A c.3255+1G>A - IntronicSNV - 16/81 2
7-21640552-A-C c.3255+4A>C - IntronicSNV - 16/81 1
7-21640570-T-C c.3255+22T>C - IntronicSNV - 16/81 2
7-21640618-C-G c.3256-10C>G - IntronicSNV - 16/81 5
7-21640631-G-A c.3259G>A p.D1087N Missense 17/82 - 1
7-21640632-A-T c.3260A>T p.D1087V Missense 17/82 - 3
7-21640635-T-C c.3263T>C p.I1088T Missense 17/82 - 3
7-21640638-A-T c.3266A>T p.Y1089F Missense 17/82 - 1
7-21640643-G-A c.3271G>A p.A1091T Missense 17/82 - 6
7-21640644-C-T c.3272C>T p.A1091V Missense 17/82 - 2
7-21640648-G-T c.3276G>T p.L1092F Missense 17/82 - 1
7-21640660-G-A c.3288G>A p.M1096I Missense 17/82 - 6
7-21640660-G-C c.3288G>C p.M1096I Missense 17/82 - 2
7-21640660-G-T c.3288G>T p.M1096I Missense 17/82 - 2
7-21640661-A-C c.3289A>C p.S1097R Missense 17/82 - 1
7-21640663-C-A c.3291C>A p.S1097R Missense 17/82 - 4
7-21640663-C-G c.3291C>G p.S1097R Missense 17/82 - 1
7-21640664-A-G c.3292A>G p.K1098E Missense 17/82 - 2
7-21640667-T-C c.3295T>C p.F1099L Missense 17/82 - 3
7-21640667-T-G c.3295T>G p.F1099V Missense 17/82 - 1
7-21640667-T-TGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCAC c.3295_3296insGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCAC p.F1099Cfs*9 Frameshift 17/82 - 1
7-21640669-T-A c.3297T>A p.F1099L Missense 17/82 - 2
7-21640669-T-G c.3297T>G p.F1099L Missense 17/82 - 2
7-21640668-T-A c.3296T>A p.F1099Y Missense 17/82 - 1
7-21640668-T-G c.3296T>G p.F1099C Missense 17/82 - 2
7-21640673-G-A c.3301G>A p.D1101N Missense 17/82 - 1
7-21640674-A-G c.3302A>G p.D1101G Missense 17/82 - 1
7-21640675-C-T c.3303C>T p.D1101= Synonymous 17/82 - 1
7-21640680-G-C c.3308G>C p.R1103T Missense 17/82 - 2
7-21640692-G-A c.3320G>A p.S1107N Missense 17/82 - 1
7-21640692-G-T c.3320G>T p.S1107I Missense 17/82 - 1
7-21640695-G-T c.3323G>T p.W1108L Missense 17/82 - 1
7-21640698-T-TC c.3327dup p.K1110Qfs*16 Frameshift 17/82 - 1
7-21640704-T-C c.3332T>C p.V1111A Missense 17/82 - 3
7-21640705-G-A c.3333G>A p.V1111= Synonymous 17/82 - 4
7-21640705-G-C c.3333G>C p.V1111= Synonymous 17/82 - 3
7-21640705-G-T c.3333G>T p.V1111= Synonymous 17/82 - 3
7-21640707-A-G c.3335A>G p.D1112G Missense 17/82 - 1
7-21640712-A-G c.3340A>G p.K1114E Missense 17/82 - 1
7-21640713-A-G c.3341A>G p.K1114R Missense 17/82 - 1
7-21640715-C-A c.3343C>A p.P1115T Missense 17/82 - 1
7-21640715-C-T c.3343C>T p.P1115S Missense 17/82 - 1
7-21640716-C-T c.3344C>T p.P1115L Missense 17/82 - 1
7-21640726-G-GT c.3354_3355insT p.S1119* Nonsense 17/82 - 1
7-21640727-A-G c.3355A>G p.S1119G Missense 17/82 - 1
7-21640727-GAGC-G c.3355_3357del p.S1119del InFrameDeletion 17/82 - 1
7-21640728-G-A c.3356G>A p.S1119N Missense 17/82 - 2
7-21640729-C-T c.3357C>T p.S1119= Synonymous 17/82 - 4
7-21640731-T-C c.3359T>C p.L1120S Missense 17/82 - 1
7-21640732-G-C c.3360G>C p.L1120F Missense 17/82 - 1
7-21640732-G-T c.3360G>T p.L1120F Missense 17/82 - 1
7-21640737-C-T c.3365C>T p.T1122I Missense 17/82 - 1
7-21640740-TA-T c.3370del p.I1124Lfs*13 Frameshift 17/82 - 2
7-21640743-ATTAAGAAATGGAGCTGGAT-A c.3371_3389del p.I1124Sfs*7 Frameshift 17/82 - 1
7-21640744-T-A c.3372T>A p.I1124= Synonymous 17/82 - 1
7-21640744-T-C c.3372T>C p.I1124= Synonymous 17/82 - 2
7-21640745-A-G c.3373A>G p.K1125E Missense 17/82 - 2
7-21640749-A-C c.3377A>C p.K1126T Missense 17/82 - 1
7-21640752-G-A c.3380G>A p.W1127* Nonsense 17/82 - 3
7-21640753-G-A c.3381G>A p.W1127* Nonsense 17/82 - 3
7-21640753-G-C c.3381G>C p.W1127C Missense 17/82 - 1
7-21640753-G-T c.3381G>T p.W1127C Missense 17/82 - 1
7-21640756-C-T c.3384C>T p.S1128= Synonymous 17/82 - 2
7-21640760-A-G c.3388A>G p.M1130V Missense 17/82 - 2
7-21640763-T-A c.3391T>A p.F1131I Missense 17/82 - 1
7-21640765-T-C c.3393T>C p.F1131= Synonymous 17/82 - 2
7-21640779-T-A c.3407T>A p.L1136* Nonsense 17/82 - 1
7-21640782-G-A c.3410G>A p.R1137K Missense 17/82 - 1
7-21640782-G-T c.3410G>T p.R1137I Missense 17/82 - 2
7-21640794-A-T c.3422A>T p.D1141V Missense 17/82 - 1
7-21641013-G-A c.3426-1G>A - IntronicSNV - 17/81 1
7-21641017-G-A c.3429G>A p.L1143= Synonymous 18/82 - 3
7-21641019-A-G c.3431A>G p.N1144S Missense 18/82 - 1
7-21641019-A-T c.3431A>T p.N1144I Missense 18/82 - 1
7-21641020-T-C c.3432T>C p.N1144= Synonymous 18/82 - 1
7-21641023-G-C c.3435G>C p.E1145D Missense 18/82 - 1
7-21641023-G-T c.3435G>T p.E1145D Missense 18/82 - 2
7-21641027-C-T c.3439C>T p.Q1147* Nonsense 18/82 - 2
7-21641030-G-C c.3442G>C p.E1148Q Missense 18/82 - 1
7-21641030-G-T c.3442G>T p.E1148* Nonsense 18/82 - 3
7-21641034-T-G c.3446T>G p.F1149C Missense 18/82 - 1
7-21641039-A-G c.3451A>G p.K1151E Missense 18/82 - 1
7-21641039-AAGGAGACAGATTCCGGACTTCAGAGAG-A c.3453_3479del p.E1152_E1160del InFrameDeletion 18/82 - 1
7-21641042-G-A c.3454G>A p.E1152K Missense 18/82 - 2
7-21641042-G-T c.3454G>T p.E1152* Nonsense 18/82 - 4
7-21641044-G-A c.3456G>A p.E1152= Synonymous 18/82 - 1
7-21641046-C-G c.3458C>G p.T1153R Missense 18/82 - 1
7-21641047-A-C c.3459A>C p.T1153= Synonymous 18/82 - 1
7-21641047-A-G c.3459A>G p.T1153= Synonymous 18/82 - 2
7-21641047-A-T c.3459A>T p.T1153= Synonymous 18/82 - 1
7-21641052-C-A c.3464C>A p.S1155Y Missense 18/82 - 1
7-21641053-C-A c.3465C>A p.S1155= Synonymous 18/82 - 2
7-21641053-C-G c.3465C>G p.S1155= Synonymous 18/82 - 2
7-21641053-C-T c.3465C>T p.S1155= Synonymous 18/82 - 2
7-21641054-G-A c.3466G>A p.G1156R Missense 18/82 - 3
7-21641054-G-C c.3466G>C p.G1156R Missense 18/82 - 2
7-21641054-G-T c.3466G>T p.G1156* Nonsense 18/82 - 2
7-21641057-C-A c.3469C>A p.L1157I Missense 18/82 - 1
7-21641058-T-G c.3470T>G p.L1157R Missense 18/82 - 8
7-21641059-T-A c.3471T>A p.L1157= Synonymous 18/82 - 1
7-21641059-T-C c.3471T>C p.L1157= Synonymous 18/82 - 1
7-21641059-T-G c.3471T>G p.L1157= Synonymous 18/82 - 1
7-21641062-G-A c.3474G>A p.Q1158= Synonymous 18/82 - 1
7-21641064-G-A c.3476G>A p.R1159K Missense 18/82 - 1
7-21641066-G-A c.3478G>A p.E1160K Missense 18/82 - 1
7-21641066-G-C c.3478G>C p.E1160Q Missense 18/82 - 2
7-21641066-G-T c.3478G>T p.E1160* Nonsense 18/82 - 5
7-21641067-A-G c.3479A>G p.E1160G Missense 18/82 - 1
7-21641068-A-ATTCCTCACCATCC c.3482_3483insCCTCACCATCCTT p.L1161Ffs*7 Frameshift 18/82 - 1
7-21641072-A-T c.3484A>T p.N1162Y Missense 18/82 - 1
7-21641075-G-A c.3487G>A p.E1163K Missense 18/82 - 2
7-21641075-GA-AT c.3487_3488delinsAT p.E1163I Missense 18/82 - 1
7-21641076-A-G c.3488A>G p.E1163G Missense 18/82 - 1
7-21641076-A-T c.3488A>T p.E1163V Missense 18/82 - 1
7-21641078-G-A c.3490G>A p.G1164S Missense 18/82 - 1
7-21641082-A-G c.3494A>G p.D1165G Missense 18/82 - 2
7-21641083-T-G c.3495T>G p.D1165E Missense 18/82 - 1
7-21641085-A-C c.3497A>C p.H1166P Missense 18/82 - 1
7-21641085-A-T c.3497A>T p.H1166L Missense 18/82 - 1
7-21641087-G-C c.3499G>C p.D1167H Missense 18/82 - 1
7-21641090-G-C c.3502G>C p.G1168R Missense 18/82 - 2
7-21641091-G-A c.3503G>A p.G1168D Missense 18/82 - 1
7-21641093-T-C c.3505T>C p.L1169= Synonymous 18/82 - 1
7-21641095-A-G c.3507A>G p.L1169= Synonymous 18/82 - 1
7-21641099-G-A c.3511G>A p.D1171N Missense 18/82 - 1
7-21641099-G-C c.3511G>C p.D1171H Missense 18/82 - 1
7-21641104-C-A c.3516C>A p.I1172= Synonymous 18/82 - 2
7-21641104-C-G c.3516C>G p.I1172M Missense 18/82 - 1
7-21641108-G-A c.3520G>A p.V1174M Missense 18/82 - 2
7-21641109-T-G c.3521T>G p.V1174G Missense 18/82 - 1
7-21641117-C-G c.3529C>G p.L1177V Missense 18/82 - 3
7-21641118-T-C c.3530T>C p.L1177P Missense 18/82 - 1
7-21641120-G-A c.3532G>A p.A1178T Missense 18/82 - 1
7-21641120-G-T c.3532G>T p.A1178S Missense 18/82 - 1
7-21641121-C-T c.3533C>T p.A1178V Missense 18/82 - 1
7-21641126-A-G c.3538A>G p.R1180G Missense 18/82 - 3
7-21641127-G-T c.3539G>T p.R1180I Missense 18/82 - 1
7-21641129-A-G c.3541A>G p.S1181G Missense 18/82 - 3
7-21641130-G-T c.3542G>T p.S1181I Missense 18/82 - 1
7-21641129-A-C c.3541A>C p.S1181R Missense 18/82 - 1
7-21641131-C-A c.3543C>A p.S1181R Missense 18/82 - 1
7-21641131-C-G c.3543C>G p.S1181R Missense 18/82 - 1
7-21641132-C-A c.3544C>A p.R1182= Synonymous 18/82 - 1
7-21641132-CG-AA c.3544_3545delinsAA p.R1182K Missense 18/82 - 1
7-21641132-C-T c.3544C>T p.R1182* Nonsense 18/82 - 6
7-21641133-G-A c.3545G>A p.R1182Q Missense 18/82 - 2
7-21641133-G-C c.3545G>C p.R1182P Missense 18/82 - 1
7-21641135-C-A c.3547C>A p.Q1183K Missense 18/82 - 1
7-21641143-T-A c.3555T>A p.A1185= Synonymous 18/82 - 1
7-21641143-T-C c.3555T>C p.A1185= Synonymous 18/82 - 1
7-21641143-T-G c.3555T>G p.A1185= Synonymous 18/82 - 1
7-21641145-C-T c.3557C>T p.T1186I Missense 18/82 - 2
7-21641150-TGAA-T c.3562_3564del p.E1188del InFrameDeletion 18/82 - 1
7-21641152-A-G c.3564A>G p.E1188= Synonymous 18/82 - 1
7-21641155-C-T c.3567C>T p.L1189= Synonymous 18/82 - 1
7-21641162-C-T c.3574C>T p.P1192S Missense 18/82 - 5
7-21641163-C-A c.3575C>A p.P1192H Missense 18/82 - 1
7-21641171-G-A c.3583G>A p.E1195K Missense 18/82 - 1
7-21641175-C-A c.3587C>A p.T1196K Missense 18/82 - 1
7-21641175-C-T c.3587C>T p.T1196M Missense 18/82 - 3
7-21641176-G-A c.3588G>A p.T1196= Synonymous 18/82 - 3
7-21641179-C-T c.3591C>T p.I1197= Synonymous 18/82 - 3
7-21641181-C-T c.3593C>T p.T1198I Missense 18/82 - 2
7-21641183-C-G c.3595C>G p.L1199V Missense 18/82 - 1
7-21641185-C-T c.3597C>T p.L1199= Synonymous 18/82 - 2
7-21641186-TT-CC c.3598_3599delinsCC p.L1200P Missense 18/82 - 1
7-21641188-G-A c.3600G>A p.L1200= Synonymous 18/82 - 4
7-21641188-G-T c.3600G>T p.L1200F Missense 18/82 - 1
7-21641189-G-A c.3601G>A p.E1201K Missense 18/82 - 1
7-21641192-AG-CT c.3604_3605inv p.S1202L Missense 18/82 - 1
7-21641192-AG-TT c.3604_3605delinsTT p.S1202F Missense 18/82 - 1
7-21641201-C-A c.3613C>A p.Q1205K Missense 18/82 - 1
7-21641202-A-G c.3614A>G p.Q1205R Missense 18/82 - 1
7-21641209-G-A c.3621G>A p.M1207I Missense 18/82 - 1
7-21641209-G-T c.3621G>T p.M1207I Missense 18/82 - 1
7-21641214-A-G c.3626A>G p.E1209G Missense 18/82 - 1
7-21641216-C-A c.3628C>A p.Q1210K Missense 18/82 - 1
7-21641216-C-CT c.3628_3629insT p.Q1210Lfs*11 Frameshift 18/82 - 1
7-21641218-G-A c.3630G>A p.Q1210= Synonymous 18/82 - 23
7-21641218-G-C c.3630G>C p.Q1210H Missense 18/82 - 4
7-21641219-G-A c.3631G>A p.V1211I Missense 18/82 - 1
7-21641222-T-C c.3634T>C p.Y1212H Missense 18/82 - 1
7-21641223-A-G c.3635A>G p.Y1212C Missense 18/82 - 1
7-21641223-A-T c.3635A>T p.Y1212F Missense 18/82 - 1
7-21641225-A-T c.3637A>T p.I1213F Missense 18/82 - 1
7-21641230-G-A c.3642G>A p.Q1214= Synonymous 18/82 - 1
7-21641231-C-A c.3643C>A p.L1215I Missense 18/82 - 1
7-21641234-G-A c.3646G>A p.E1216K Missense 18/82 - 4
7-21641238-T-C c.3648+2T>C - IntronicSNV - 18/81 1
7-21641269-A-G c.3648+33A>G - IntronicSNV - 18/81 4
7-21641629-C-T c.3648+393C>T - IntronicSNV - 18/81 1
7-21646044-G-C c.3649G>C p.E1217Q Missense 19/82 - 2
7-21646046-A-C c.3651A>C p.E1217D Missense 19/82 - 1
7-21646047-T-A c.3652T>A p.L1218I Missense 19/82 - 1
7-21646054-A-G c.3659A>G p.E1220G Missense 19/82 - 2
7-21646057-G-A c.3662G>A p.R1221K Missense 19/82 - 1
7-21646060-G-A c.3665G>A p.W1222* Nonsense 19/82 - 1
7-21646061-G-A c.3666G>A p.W1222* Nonsense 19/82 - 3
7-21646062-G-A c.3667G>A p.E1223K Missense 19/82 - 1
7-21646066-C-T c.3671C>T p.T1224I Missense 19/82 - 1
7-21646073-A-T c.3678A>T p.K1226N Missense 19/82 - 1
7-21646076-G-A c.3681G>A p.K1227= Synonymous 19/82 - 1
7-21646079-C-A c.3684C>A p.I1228= Synonymous 19/82 - 1
7-21646079-C-T c.3684C>T p.I1228= Synonymous 19/82 - 3
7-21646080-G-T c.3685G>T p.A1229S Missense 19/82 - 4
7-21646081-C-T c.3686C>T p.A1229V Missense 19/82 - 2
7-21646086-A-T c.3691A>T p.T1231S Missense 19/82 - 1
7-21646087-C-A c.3692C>A p.T1231N Missense 19/82 - 1
7-21646091-C-A c.3696C>A p.V1232= Synonymous 19/82 - 1
7-21646091-C-G c.3696C>G p.V1232= Synonymous 19/82 - 1
7-21646092-A-G c.3697A>G p.R1233G Missense 19/82 - 2
7-21646092-AGA-TGT c.3697_3699delinsTGT p.R1233C Missense 19/82 - 1
7-21646099-A-T c.3704A>T p.E1235V Missense 19/82 - 1
7-21646110-C-A c.3715C>A p.L1239I Missense 19/82 - 1
7-21646115-T-C c.3720T>C p.H1240= Synonymous 19/82 - 1
7-21646120-C-A c.3725C>A p.A1242E Missense 19/82 - 1
7-21646120-C-T c.3725C>T p.A1242V Missense 19/82 - 3
7-21646121-G-A c.3726G>A p.A1242= Synonymous 19/82 - 1
7-21646121-G-C c.3726G>C p.A1242= Synonymous 19/82 - 1
7-21646121-G-T c.3726G>T p.A1242= Synonymous 19/82 - 1
7-21646122-G-A c.3727G>A p.E1243K Missense 19/82 - 3
7-21646122-G-T c.3727G>T p.E1243* Nonsense 19/82 - 2
7-21646134-A-C c.3739A>C p.I1247L Missense 19/82 - 2
7-21646135-T-C c.3740T>C p.I1247T Missense 19/82 - 1
7-21646139-GA-G c.3750del p.K1250Nfs*43 Frameshift 19/82 - 2
7-21646139-G-GA c.3750dup p.C1251Mfs*5 Frameshift 19/82 - 3
7-21646146-T-A c.3751T>A p.C1251S Missense 19/82 - 1
7-21646146-T-G c.3751T>G p.C1251G Missense 19/82 - 1
7-21646147-G-C c.3752G>C p.C1251S Missense 19/82 - 1
7-21646147-G-T c.3752G>T p.C1251F Missense 19/82 - 1
7-21646151-T-G c.3756T>G p.I1252M Missense 19/82 - 1
7-21646153-T-A c.3758T>A p.L1253* Nonsense 19/82 - 1
7-21646158-G-C c.3763G>C p.D1255H Missense 19/82 - 1
7-21646159-A-C c.3764A>C p.D1255A Missense 19/82 - 1
7-21646160-C-T c.3765C>T p.D1255= Synonymous 19/82 - 3
7-21646161-G-A c.3765+1G>A - IntronicSNV - 19/81 1
7-21646166-C-G c.3765+6C>G - IntronicSNV - 19/81 1
7-21646254-G-T c.3766-11G>T - IntronicSNV - 19/81 2
7-21646265-G-A c.3766G>A p.A1256T Missense 20/82 - 1
7-21646270-G-A c.3771G>A p.K1257= Synonymous 20/82 - 3
7-21646274-G-T c.3775G>T p.A1259S Missense 20/82 - 1
7-21646276-A-C c.3777A>C p.A1259= Synonymous 20/82 - 1
7-21646276-A-G c.3777A>G p.A1259= Synonymous 20/82 - 1
7-21646276-A-T c.3777A>T p.A1259= Synonymous 20/82 - 1
7-21646280-T-C c.3781T>C p.F1261L Missense 20/82 - 1
7-21646282-C-A c.3783C>A p.F1261L Missense 20/82 - 1
7-21646282-C-G c.3783C>G p.F1261L Missense 20/82 - 1
7-21646281-T-C c.3782T>C p.F1261S Missense 20/82 - 3
7-21646282-C-T c.3783C>T p.F1261= Synonymous 20/82 - 3
7-21646283-AGA-TGG c.3784_3786delinsTGG p.R1262W Missense 20/82 - 1
7-21646286-G-A c.3787G>A p.E1263K Missense 20/82 - 1
7-21646288-G-GA c.3790dup p.R1264Kfs*11 Frameshift 20/82 - 1
7-21646290-G-A c.3791G>A p.R1264K Missense 20/82 - 2
7-21646290-G-C c.3791G>C p.R1264T Missense 20/82 - 1
7-21646291-A-T c.3792A>T p.R1264S Missense 20/82 - 3
7-21646292-T-C c.3793T>C p.F1265L Missense 20/82 - 1
7-21646295-AG-CA c.3796_3797delinsCA p.R1266Q Missense 20/82 - 1
7-21646299-A-C c.3800A>C p.H1267P Missense 20/82 - 1
7-21646301-T-A c.3802T>A p.Y1268N Missense 20/82 - 3
7-21646303-T-C c.3804T>C p.Y1268= Synonymous 20/82 - 3
7-21646304-G-A c.3805G>A p.A1269T Missense 20/82 - 1
7-21646305-CC-AG c.3806_3807delinsAG p.A1269E Missense 20/82 - 1
7-21646305-C-T c.3806C>T p.A1269V Missense 20/82 - 1
7-21646306-C-A c.3807C>A p.A1269= Synonymous 20/82 - 1
7-21646306-C-G c.3807C>G p.A1269= Synonymous 20/82 - 1
7-21646306-C-T c.3807C>T p.A1269= Synonymous 20/82 - 1
7-21646312-T-A c.3813T>A p.L1271= Synonymous 20/82 - 1
7-21646312-T-C c.3813T>C p.L1271= Synonymous 20/82 - 1
7-21646312-T-G c.3813T>G p.L1271= Synonymous 20/82 - 1
7-21646314-G-T c.3815G>T p.G1272V Missense 20/82 - 1
7-21646320-A-T c.3821A>T p.N1274I Missense 20/82 - 2
7-21646323-C-T c.3824C>T p.A1275V Missense 20/82 - 1
7-21646324-A-C c.3825A>C p.A1275= Synonymous 20/82 - 2
7-21646325-G-A c.3826G>A p.E1276K Missense 20/82 - 1
7-21646327-A-C c.3828A>C p.E1276D Missense 20/82 - 1
7-21646327-A-T c.3828A>T p.E1276D Missense 20/82 - 1
7-21646331-C-G c.3832C>G p.P1278A Missense 20/82 - 1
7-21646331-C-T c.3832C>T p.P1278S Missense 20/82 - 5
7-21646332-C-T c.3833C>T p.P1278L Missense 20/82 - 2
7-21646341-C-T c.3842C>T p.A1281V Missense 20/82 - 4
7-21646342-G-A c.3843G>A p.A1281= Synonymous 20/82 - 3
7-21646343-C-T c.3844C>T p.L1282F Missense 20/82 - 1
7-21646345-T-A c.3846T>A p.L1282= Synonymous 20/82 - 1
7-21646345-T-C c.3846T>C p.L1282= Synonymous 20/82 - 1
7-21646345-T-G c.3846T>G p.L1282= Synonymous 20/82 - 1
7-21646346-G-C c.3847G>C p.D1283H Missense 20/82 - 1
7-21647114-G-C c.3852+763G>C - IntronicSNV - 20/81 1
7-21647114-G-T c.3852+763G>T - IntronicSNV - 20/81 1
7-21647686-T-C c.3852+1335T>C - IntronicSNV - 20/81 1
7-21648742-T-C c.3852+2391T>C - IntronicSNV - 20/81 1
7-21653947-A-G c.3853-785A>G - IntronicSNV - 20/81 2
7-21654114-G-A c.3853-618G>A - IntronicSNV - 20/81 1
7-21654602-C-T c.3853-130C>T - IntronicSNV - 20/81 4
7-21654653-G-A c.3853-79G>A - IntronicSNV - 20/81 1
7-21654653-G-C c.3853-79G>C - IntronicSNV - 20/81 1
7-21654708-C-T c.3853-24C>T - IntronicSNV - 20/81 1
7-21654717-A-G c.3853-15A>G - IntronicSNV - 20/81 1
7-21654738-G-A c.3859G>A p.E1287K Missense 21/82 - 3
7-21654738-G-T c.3859G>T p.E1287* Nonsense 21/82 - 1
7-21654743-G-A c.3864G>A p.E1288= Synonymous 21/82 - 1
7-21654743-G-T c.3864G>T p.E1288D Missense 21/82 - 1
7-21654744-C-A c.3865C>A p.L1289I Missense 21/82 - 2
7-21654744-C-T c.3865C>T p.L1289F Missense 21/82 - 2
7-21654745-T-A c.3866T>A p.L1289H Missense 21/82 - 1
7-21654746-T-A c.3867T>A p.L1289= Synonymous 21/82 - 1
7-21654746-T-C c.3867T>C p.L1289= Synonymous 21/82 - 1
7-21654746-T-G c.3867T>G p.L1289= Synonymous 21/82 - 1
7-21654747-G-C c.3868G>C p.E1290Q Missense 21/82 - 1
7-21654749-G-A c.3870G>A p.E1290= Synonymous 21/82 - 2
7-21654750-G-A c.3871G>A p.A1291T Missense 21/82 - 1
7-21654752-C-T c.3873C>T p.A1291= Synonymous 21/82 - 2
7-21654753-T-C c.3874T>C p.L1292= Synonymous 21/82 - 3
7-21654756-G-A c.3877G>A p.E1293K Missense 21/82 - 1
7-21654757-A-G c.3878A>G p.E1293G Missense 21/82 - 1
7-21654759-G-A c.3880G>A p.E1294K Missense 21/82 - 2
7-21654762-G-A c.3883G>A p.E1295K Missense 21/82 - 2
7-21654762-G-T c.3883G>T p.E1295* Nonsense 21/82 - 1
7-21654764-A-C c.3885A>C p.E1295D Missense 21/82 - 1
7-21654764-A-T c.3885A>T p.E1295D Missense 21/82 - 1
7-21654765-A-G c.3886A>G p.M1296V Missense 21/82 - 1
7-21654769-T-G c.3890T>G p.L1297W Missense 21/82 - 1
7-21654772-A-C c.3893A>C p.Q1298P Missense 21/82 - 1
7-21654772-A-G c.3893A>G p.Q1298R Missense 21/82 - 1
7-21654773-G-C c.3894G>C p.Q1298H Missense 21/82 - 4
7-21654773-G-T c.3894G>T p.Q1298H Missense 21/82 - 3
7-21654775-T-C c.3896T>C p.M1299T Missense 21/82 - 1
7-21654777-C-A c.3898C>A p.Q1300K Missense 21/82 - 1
7-21654777-C-T c.3898C>T p.Q1300* Nonsense 21/82 - 1
7-21654778-A-G c.3899A>G p.Q1300R Missense 21/82 - 2
7-21654780-G-T c.3901G>T p.E1301* Nonsense 21/82 - 4
7-21654781-A-G c.3902A>G p.E1301G Missense 21/82 - 1
7-21654784-C-G c.3905C>G p.S1302C Missense 21/82 - 1
7-21654784-C-T c.3905C>T p.S1302F Missense 21/82 - 3
7-21654789-C-T c.3910C>T p.R1304C Missense 21/82 - 3
7-21654790-G-A c.3911G>A p.R1304H Missense 21/82 - 4
7-21654792-C-G c.3913C>G p.L1305V Missense 21/82 - 5
7-21654796-T-A c.3917T>A p.F1306Y Missense 21/82 - 1
7-21654792-CT-C c.3918del p.F1306Lfs*11 Frameshift 21/82 - 1
7-21654800-A-G c.3921A>G p.E1307= Synonymous 21/82 - 1
7-21654801-G-A c.3922G>A p.V1308M Missense 21/82 - 1
7-21654801-G-C c.3922G>C p.V1308L Missense 21/82 - 1
7-21654804-G-A c.3925G>A p.A1309T Missense 21/82 - 1
7-21654809-TC-T c.3932del p.P1311Qfs*6 Frameshift 21/82 - 1
7-21654812-A-C c.3933A>C p.P1311= Synonymous 21/82 - 1
7-21654812-A-G c.3933A>G p.P1311= Synonymous 21/82 - 1
7-21654812-A-T c.3933A>T p.P1311= Synonymous 21/82 - 1
7-21654815-G-A c.3936G>A p.E1312= Synonymous 21/82 - 1
7-21654818-C-A c.3939C>A p.Y1313* Nonsense 21/82 - 1
7-21654825-A-G c.3946A>G p.M1316V Missense 21/82 - 5
7-21654827-G-A c.3948G>A p.M1316I Missense 21/82 - 3
7-21654827-G-C c.3948G>C p.M1316I Missense 21/82 - 1
7-21654827-G-T c.3948G>T p.M1316I Missense 21/82 - 1
7-21654835-G-A c.3956G>A p.C1319Y Missense 21/82 - 1
7-21654837-C-T c.3958C>T p.R1320C Missense 21/82 - 4
7-21654838-G-A c.3959G>A p.R1320H Missense 21/82 - 1
7-21654838-G-T c.3959G>T p.R1320L Missense 21/82 - 1
7-21654843-G-T c.3964G>T p.E1322* Nonsense 21/82 - 4
7-21654854-G-A c.3975G>A p.L1325= Synonymous 21/82 - 1
7-21654854-G-T c.3975G>T p.L1325F Missense 21/82 - 2
7-21654855-C-T c.3976C>T p.L1326F Missense 21/82 - 1
7-21654856-T-A c.3977T>A p.L1326H Missense 21/82 - 2
7-21654859-A-C c.3980A>C p.K1327T Missense 21/82 - 2
7-21654862-G-C c.3983G>C p.G1328A Missense 21/82 - 1
7-21654868-G-A c.3989G>A p.W1330* Nonsense 21/82 - 2
7-21654869-G-A c.3990G>A p.W1330* Nonsense 21/82 - 3
7-21654873-G-A c.3994G>A p.V1332I Missense 21/82 - 1
7-21654875-C-T c.3996C>T p.V1332= Synonymous 21/82 - 1
7-21654880-T-C c.4001T>C p.I1334T Missense 21/82 - 5
7-21654886-T-C c.4007T>C p.V1336A Missense 21/82 - 1
7-21654888-C-A c.4009C>A p.R1337= Synonymous 21/82 - 1
7-21654888-C-T c.4009C>T p.R1337* Nonsense 21/82 - 3
7-21654889-G-A c.4010G>A p.R1337Q Missense 21/82 - 2
7-21654889-G-T c.4010G>T p.R1337L Missense 21/82 - 1
7-21654970-A-C c.4011+80A>C - IntronicSNV - 21/81 1
7-21654970-A-G c.4011+80A>G - IntronicSNV - 21/81 2
7-21655667-T-C c.4012-160T>C - IntronicSNV - 21/81 1
7-21655780-C-A c.4012-47C>A - IntronicSNV - 21/81 1
7-21655780-C-G c.4012-47C>G - IntronicSNV - 21/81 1
7-21655780-C-T c.4012-47C>T - IntronicSNV - 21/81 1
7-21655827-AGA-TGT c.4012_4014delinsTGT p.R1338C Missense 22/82 - 1
7-21655838-TAATTGGACTA-T c.4026_4035del p.N1342Kfs*14 Frameshift 22/82 - 1
7-21655848-A-G c.4033A>G p.K1345E Missense 22/82 - 1
7-21655852-C-T c.4037C>T p.T1346I Missense 22/82 - 1
7-21655853-C-G c.4038C>G p.T1346= Synonymous 22/82 - 1
7-21655853-C-T c.4038C>T p.T1346= Synonymous 22/82 - 1
7-21655856-G-C c.4041G>C p.Q1347H Missense 22/82 - 1
7-21655856-G-T c.4041G>T p.Q1347H Missense 22/82 - 1
7-21655858-G-A c.4043G>A p.W1348* Nonsense 22/82 - 1
7-21655859-G-A c.4044G>A p.W1348* Nonsense 22/82 - 1
7-21655861-G-C c.4046G>C p.R1349T Missense 22/82 - 1
7-21655863-C-T c.4048C>T p.Q1350* Nonsense 22/82 - 1
7-21655865-G-A c.4050G>A p.Q1350= Synonymous 22/82 - 1
7-21655866-A-G c.4051A>G p.I1351V Missense 22/82 - 1
7-21655867-T-A c.4052T>A p.I1351N Missense 22/82 - 1
7-21655869-C-A c.4054C>A p.H1352N Missense 22/82 - 2
7-21655869-C-G c.4054C>G p.H1352D Missense 22/82 - 1
7-21655870-A-G c.4055A>G p.H1352R Missense 22/82 - 1
7-21655870-A-T c.4055A>T p.H1352L Missense 22/82 - 2
7-21655871-T-C c.4056T>C p.H1352= Synonymous 22/82 - 1
7-21655871-T-G c.4056T>G p.H1352Q Missense 22/82 - 1
7-21655874-G-T c.4059G>T p.V1353= Synonymous 22/82 - 2
7-21655878-C-A c.4063C>A p.Q1355K Missense 22/82 - 1
7-21655887-G-T c.4072G>T p.V1358L Missense 22/82 - 1
7-21655893-C-G c.4078C>G p.L1360V Missense 22/82 - 1
7-21655899-AAGG-A c.4084_4086del p.R1362del InFrameDeletion 22/82 - 1
7-21655905-G-A c.4090G>A p.A1364T Missense 22/82 - 2
7-21655912-C-A c.4095+2C>A - IntronicSNV - 22/81 1
7-21655912-C-T c.4095+2C>T - IntronicSNV - 22/81 1
7-21655913-G-A c.4095+3G>A - IntronicSNV - 22/81 1
7-21655915-G-A c.4095+5G>A - IntronicSNV - 22/81 1
7-21657130-C-G c.4096-107C>G - IntronicSNV - 22/81 5
7-21657130-C-T c.4096-107C>T - IntronicSNV - 22/81 5
7-21657185-A-G c.4096-52A>G - IntronicSNV - 22/81 2
7-21657237-G-A c.4096G>A p.E1366K Missense 23/82 - 3
7-21657238-GAAATTTGGTCACTCAACAAGGAAGTCCGCGTCTGGGATGCTTACACGGGCCTGGAAGGC-G c.4098_4156del p.E1366Dfs*3 InFrameDeletion 23/82 - 2
7-21657244-G-A c.4103G>A p.W1368* Nonsense 23/82 - 1
7-21657244-G-T c.4103G>T p.W1368L Missense 23/82 - 1
7-21657245-G-A c.4104G>A p.W1368* Nonsense 23/82 - 2
7-21657247-C-T c.4106C>T p.S1369L Missense 23/82 - 1
7-21657249-C-T c.4108C>T p.L1370F Missense 23/82 - 1
7-21657256-A-G c.4115A>G p.K1372R Missense 23/82 - 1
7-21657256-A-T c.4115A>T p.K1372M Missense 23/82 - 2
7-21657258-G-A c.4117G>A p.E1373K Missense 23/82 - 3
7-21657260-A-C c.4119A>C p.E1373D Missense 23/82 - 1
7-21657261-G-A c.4120G>A p.V1374I Missense 23/82 - 1
7-21657263-C-T c.4122C>T p.V1374= Synonymous 23/82 - 1
7-21657265-G-A c.4124G>A p.R1375H Missense 23/82 - 4
7-21657265-G-C c.4124G>C p.R1375P Missense 23/82 - 1
7-21657266-C-A c.4125C>A p.R1375= Synonymous 23/82 - 2
7-21657266-C-G c.4125C>G p.R1375= Synonymous 23/82 - 1
7-21657266-C-T c.4125C>T p.R1375= Synonymous 23/82 - 2
7-21657267-G-A c.4126G>A p.V1376I Missense 23/82 - 7
7-21657267-G-T c.4126G>T p.V1376F Missense 23/82 - 1
7-21657269-C-T c.4128C>T p.V1376= Synonymous 23/82 - 2
7-21657271-G-A c.4130G>A p.W1377* Nonsense 23/82 - 2
7-21657272-G-A c.4131G>A p.W1377* Nonsense 23/82 - 1
7-21657273-G-A c.4132G>A p.D1378N Missense 23/82 - 1
7-21657274-A-G c.4133A>G p.D1378G Missense 23/82 - 1
7-21657277-C-T c.4136C>T p.A1379V Missense 23/82 - 2
7-21657279-T-C c.4138T>C p.Y1380H Missense 23/82 - 1
7-21657281-C-T c.4140C>T p.Y1380= Synonymous 23/82 - 2
7-21657283-C-G c.4142C>G p.T1381R Missense 23/82 - 1
7-21657283-C-T c.4142C>T p.T1381M Missense 23/82 - 2
7-21657286-G-A c.4145G>A p.G1382D Missense 23/82 - 2
7-21657289-T-A c.4148T>A p.L1383Q Missense 23/82 - 1
7-21657291-G-A c.4150G>A p.E1384K Missense 23/82 - 1
7-21657294-G-C c.4153G>C p.G1385R Missense 23/82 - 1
7-21657294-G-T c.4153G>T p.G1385C Missense 23/82 - 1
7-21657295-G-A c.4154G>A p.G1385D Missense 23/82 - 1
7-21657300-G-A c.4159G>A p.V1387I Missense 23/82 - 1
7-21657306-G-A c.4165G>A p.D1389N Missense 23/82 - 1
7-21657308-C-A c.4167C>A p.D1389E Missense 23/82 - 1
7-21657313-C-A c.4172C>A p.T1391K Missense 23/82 - 2
7-21657319-C-T c.4178C>T p.S1393F Missense 23/82 - 3
7-21657322-T-A c.4181T>A p.L1394Q Missense 23/82 - 1
7-21657322-T-C c.4181T>C p.L1394P Missense 23/82 - 1
7-21657324-AG-CA c.4183_4184delinsCA p.R1395Q Missense 23/82 - 1
7-21657325-G-A c.4184G>A p.R1395K Missense 23/82 - 1
7-21657327-G-A c.4186G>A p.A1396T Missense 23/82 - 1
7-21657328-C-G c.4187C>G p.A1396G Missense 23/82 - 1
7-21657332-C-A c.4191C>A p.I1397= Synonymous 23/82 - 2
7-21657332-C-T c.4191C>T p.I1397= Synonymous 23/82 - 2
7-21657336-G-A c.4195G>A p.E1399K Missense 23/82 - 1
7-21657337-A-C c.4196A>C p.E1399A Missense 23/82 - 3
7-21657343-A-G c.4202A>G p.Q1401R Missense 23/82 - 3
7-21657344-AGAGCCC-A c.4203_4208del p.Q1401_P1403delinsH MultiAAMissense 23/82 - 1
7-21657344-G-A c.4203G>A p.Q1401= Synonymous 23/82 - 1
7-21657347-C-A c.4206C>A p.S1402R Missense 23/82 - 1
7-21657349-C-G c.4208C>G p.P1403R Missense 23/82 - 1
7-21657352-C-T c.4211C>T p.A1404V Missense 23/82 - 2
7-21657356-TC-T c.4215del p.R1406Gfs*8 Frameshift 23/82 - 1
7-21657359-G-GT c.4218_4219insT p.D1407* Nonsense 23/82 - 1
7-21657360-G-T c.4219G>T p.D1407Y Missense 23/82 - 4
7-21657362-C-T c.4221C>T p.D1407= Synonymous 23/82 - 1
7-21657364-G-A c.4223G>A p.R1408K Missense 23/82 - 3
7-21657364-G-C c.4223G>C p.R1408T Missense 23/82 - 1
7-21657365-G-C c.4224G>C p.R1408S Missense 23/82 - 1
7-21657365-G-T c.4224G>T p.R1408S Missense 23/82 - 2
7-21657366-C-CTGATGG c.4225_4226insTGATGG p.H1409delinsLMD MultiAAMissense 23/82 - 1
7-21657370-G-A c.4229G>A p.W1410* Nonsense 23/82 - 1
7-21657371-G-A c.4230G>A p.W1410* Nonsense 23/82 - 2
7-21657371-G-T c.4230G>T p.W1410C Missense 23/82 - 1
7-21657378-C-T c.4237C>T p.L1413= Synonymous 23/82 - 1
7-21657378-CTG-ATC c.4237_4239delinsATC p.L1413I Missense 23/82 - 1
7-21657378-CTG-TTT c.4237_4239delinsTTT p.L1413F Missense 23/82 - 1
7-21657383-G-A c.4242G>A p.M1414I Missense 23/82 - 3
7-21657387-G-A c.4246G>A p.A1416T Missense 23/82 - 1
7-21657391-T-C c.4250T>C p.I1417T Missense 23/82 - 1
7-21657390-A-AT c.4251dup p.G1418Wfs*8 Frameshift 23/82 - 1
7-21657400-G-T c.4254+5G>T - IntronicSNV - 23/81 3
7-21657408-G-A c.4254+13G>A - IntronicSNV - 23/81 1
7-21657572-T-G c.4254+177T>G - IntronicSNV - 23/81 1
7-21658537-C-T c.4255-181C>T - IntronicSNV - 23/81 3
7-21658679-A-T c.4255-39A>T - IntronicSNV - 23/81 1
7-21658722-A-C c.4259A>C p.K1420T Missense 24/82 - 1
7-21658736-G-A c.4273G>A p.E1425K Missense 24/82 - 1
7-21658737-A-C c.4274A>C p.E1425A Missense 24/82 - 1
7-21658740-CC-AG c.4277_4278delinsAG p.A1426E Missense 24/82 - 1
7-21658742-A-T c.4279A>T p.T1427S Missense 24/82 - 1
7-21658744-A-C c.4281A>C p.T1427= Synonymous 24/82 - 1
7-21658744-A-G c.4281A>G p.T1427= Synonymous 24/82 - 1
7-21658744-A-T c.4281A>T p.T1427= Synonymous 24/82 - 1
7-21658745-A-G c.4282A>G p.T1428A Missense 24/82 - 10
7-21658752-C-G c.4289C>G p.A1430G Missense 24/82 - 2
7-21658752-C-T c.4289C>T p.A1430V Missense 24/82 - 1
7-21658754-G-C c.4291G>C p.D1431H Missense 24/82 - 1
7-21658758-T-G c.4295T>G p.L1432W Missense 24/82 - 1
7-21658759-G-C c.4296G>C p.L1432F Missense 24/82 - 2
7-21658760-T-C c.4297T>C p.L1433= Synonymous 24/82 - 1
7-21658763-G-A c.4300G>A p.A1434T Missense 24/82 - 1
7-21658769-C-T c.4306C>T p.R1436W Missense 24/82 - 4
7-21658770-G-A c.4307G>A p.R1436Q Missense 24/82 - 2
7-21658772-T-C c.4309T>C p.L1437= Synonymous 24/82 - 1
7-21658774-A-G c.4311A>G p.L1437= Synonymous 24/82 - 1
7-21658773-T-C c.4310T>C p.L1437S Missense 24/82 - 1
7-21658774-A-C c.4311A>C p.L1437F Missense 24/82 - 1
7-21658774-A-T c.4311A>T p.L1437F Missense 24/82 - 1
7-21658775-C-T c.4312C>T p.H1438Y Missense 24/82 - 1
7-21658777-C-A c.4314C>A p.H1438Q Missense 24/82 - 2
7-21658777-C-G c.4314C>G p.H1438Q Missense 24/82 - 2
7-21658778-A-G c.4315A>G p.R1439G Missense 24/82 - 2
7-21658779-G-A c.4316G>A p.R1439K Missense 24/82 - 3
7-21658784-G-A c.4321G>A p.E1441K Missense 24/82 - 3
7-21658787-G-A c.4324G>A p.D1442N Missense 24/82 - 1
7-21658790-G-C c.4327G>C p.D1443H Missense 24/82 - 1
7-21658796-C-T c.4333C>T p.R1445* Nonsense 24/82 - 9
7-21658797-G-A c.4334G>A p.R1445Q Missense 24/82 - 4
7-21658799-AG-TA c.4336_4337delinsTA p.R1446* Nonsense 24/82 - 1
7-21658800-G-A c.4337G>A p.R1446K Missense 24/82 - 2
7-21658800-G-C c.4337G>C p.R1446T Missense 24/82 - 1
7-21658805-G-A c.4342G>A p.V1448M Missense 24/82 - 1
7-21658808-G-C c.4345G>C p.D1449H Missense 24/82 - 1
7-21658811-A-T c.4348A>T p.K1450* Nonsense 24/82 - 1
7-21658812-AG-A c.4351del p.A1451Rfs*2 Frameshift 24/82 - 1
7-21658815-C-T c.4352C>T p.A1451V Missense 24/82 - 2
7-21658816-G-A c.4353G>A p.A1451= Synonymous 24/82 - 2
7-21658816-G-C c.4353G>C p.A1451= Synonymous 24/82 - 1
7-21658816-G-T c.4353G>T p.A1451= Synonymous 24/82 - 1
7-21658817-G-A c.4354G>A p.V1452M Missense 24/82 - 1
7-21658818-T-C c.4355T>C p.V1452A Missense 24/82 - 1
7-21658823-G-C c.4360G>C p.E1454Q Missense 24/82 - 2
7-21658826-C-T c.4363C>T p.L1455= Synonymous 24/82 - 1
7-21658830-G-C c.4367G>C p.G1456A Missense 24/82 - 1
7-21658831-G-A c.4368G>A p.G1456= Synonymous 24/82 - 2
7-21658833-C-G c.4370C>G p.T1457S Missense 24/82 - 1
7-21658833-C-T c.4370C>T p.T1457I Missense 24/82 - 1
7-21658840-G-A c.4377G>A p.K1459= Synonymous 24/82 - 3
7-21658855-A-G c.4377+15A>G - IntronicSNV - 24/81 7
7-21658874-G-T c.4377+34G>T - IntronicSNV - 24/81 1
7-21658964-C-T c.4377+124C>T - IntronicSNV - 24/81 4
7-21659094-A-G c.4377+254A>G - IntronicSNV - 24/81 2
7-21659554-A-AT c.4378-18dup - IntronicInsertion - 24/81 6
7-21659554-A-ATTAAT c.4378-17_4378-16insATTTA - IntronicInsertion - 24/81 5
7-21659556-T-TA c.4378-17dup - IntronicInsertion - 24/81 2
7-21659577-A-G c.4381A>G p.I1461V Missense 25/82 - 1
7-21659581-C-T c.4385C>T p.T1462I Missense 25/82 - 2
7-21659588-C-A c.4392C>A p.I1464= Synonymous 25/82 - 1
7-21659588-C-T c.4392C>T p.I1464= Synonymous 25/82 - 1
7-21659590-G-T c.4394G>T p.S1465I Missense 25/82 - 1
7-21659586-ATCAG-A c.4395_4398del p.S1465Rfs*6 Frameshift 25/82 - 1
7-21659591-T-G c.4395T>G p.S1465R Missense 25/82 - 1
7-21659597-C-A c.4401C>A p.T1467= Synonymous 25/82 - 2
7-21659597-C-G c.4401C>G p.T1467= Synonymous 25/82 - 2
7-21659597-C-T c.4401C>T p.T1467= Synonymous 25/82 - 2
7-21659604-A-G c.4408A>G p.T1470A Missense 25/82 - 1
7-21659609-G-A c.4413G>A p.M1471I Missense 25/82 - 1
7-21659609-G-C c.4413G>C p.M1471I Missense 25/82 - 1
7-21659609-G-T c.4413G>T p.M1471I Missense 25/82 - 1
7-21659611-A-G c.4415A>G p.K1472R Missense 25/82 - 2
7-21659612-G-A c.4416G>A p.K1472= Synonymous 25/82 - 2
7-21659614-T-G c.4418T>G p.F1473C Missense 25/82 - 1
7-21659617-C-A c.4421C>A p.S1474Y Missense 25/82 - 1
7-21659617-C-G c.4421C>G p.S1474C Missense 25/82 - 1
7-21659621-C-A c.4425C>A p.Y1475* Nonsense 25/82 - 1
7-21659621-C-T c.4425C>T p.Y1475= Synonymous 25/82 - 4
7-21659622-G-A c.4426G>A p.E1476K Missense 25/82 - 3
7-21659625-G-A c.4429G>A p.V1477I Missense 25/82 - 1
7-21659626-T-C c.4430T>C p.V1477A Missense 25/82 - 2
7-21659628-C-T c.4432C>T p.H1478Y Missense 25/82 - 1
7-21659630-C-T c.4434C>T p.H1478= Synonymous 25/82 - 2
7-21659632-A-G c.4436A>G p.Y1479C Missense 25/82 - 1
7-21659633-T-A c.4437T>A p.Y1479* Nonsense 25/82 - 2
7-21659633-T-G c.4437T>G p.Y1479* Nonsense 25/82 - 2
7-21659634-C-T c.4438C>T p.R1480* Nonsense 25/82 - 9
7-21659635-G-A c.4439G>A p.R1480Q Missense 25/82 - 3
7-21659638-C-T c.4442C>T p.T1481I Missense 25/82 - 1
7-21659640-G-T c.4444G>T p.G1482C Missense 25/82 - 1
7-21659641-G-A c.4445G>A p.G1482D Missense 25/82 - 4
7-21659645-T-A c.4449T>A p.I1483= Synonymous 25/82 - 10
7-21659645-T-C c.4449T>C p.I1483= Synonymous 25/82 - 17
7-21659646-C-A c.4450C>A p.P1484T Missense 25/82 - 1
7-21659646-C-G c.4450C>G p.P1484A Missense 25/82 - 1
7-21659647-C-T c.4451C>T p.P1484L Missense 25/82 - 3
7-21659651-A-G c.4455A>G p.L1485= Synonymous 25/82 - 1
7-21659653-T-A c.4457T>A p.L1486Q Missense 25/82 - 2
7-21659659-C-G c.4463C>G p.S1488C Missense 25/82 - 1
7-21659659-C-T c.4463C>T p.S1488F Missense 25/82 - 2
7-21659660-T-C c.4464T>C p.S1488= Synonymous 25/82 - 1
7-21659664-G-A c.4468G>A p.E1490K Missense 25/82 - 1
7-21659670-C-A c.4474C>A p.L1492I Missense 25/82 - 1
7-21659670-C-T c.4474C>T p.L1492F Missense 25/82 - 1
7-21659673-T-C c.4477T>C p.F1493L Missense 25/82 - 2
7-21659675-T-A c.4479T>A p.F1493L Missense 25/82 - 1
7-21659675-T-G c.4479T>G p.F1493L Missense 25/82 - 1
7-21659676-G-C c.4480G>C p.E1494Q Missense 25/82 - 3
7-21659682-C-A c.4486C>A p.L1496I Missense 25/82 - 1
7-21659685-G-A c.4489G>A p.E1497K Missense 25/82 - 1
7-21659685-G-C c.4489G>C p.E1497Q Missense 25/82 - 1
7-21659686-A-G c.4490A>G p.E1497G Missense 25/82 - 1
7-21659689-A-G c.4493A>G p.H1498R Missense 25/82 - 1
7-21666330-AT-A c.4500+6640del - IntronicDeletion - 25/81 1
7-21672251-T-C c.4501-3238T>C - IntronicSNV - 25/81 1
7-21675224-G-C c.4501-265G>C - IntronicSNV - 25/81 1
7-21675424-T-C c.4501-65T>C - IntronicSNV - 25/81 1
7-21675482-A-T c.4501-7A>T - IntronicSNV - 25/81 1
7-21675489-G-A c.4501G>A p.V1501I Missense 26/82 - 1
7-21675493-A-C c.4505A>C p.Q1502P Missense 26/82 - 2
7-21675494-G-A c.4506G>A p.Q1502= Synonymous 26/82 - 1
7-21675495-TT-AG c.4507_4508delinsAG p.L1503R Missense 26/82 - 1
7-21675503-T-C c.4515T>C p.T1505= Synonymous 26/82 - 1
7-21675501-ACT-A c.4516_4517del p.L1506Sfs*11 Frameshift 26/82 - 2
7-21675507-C-T c.4519C>T p.L1507F Missense 26/82 - 3
7-21675517-A-T c.4529A>T p.K1510M Missense 26/82 - 1
7-21675520-A-G c.4532A>G p.Y1511C Missense 26/82 - 1
7-21675520-A-T c.4532A>T p.Y1511F Missense 26/82 - 1
7-21675527-A-C c.4539A>C p.E1513D Missense 26/82 - 1
7-21675527-A-T c.4539A>T p.E1513D Missense 26/82 - 1
7-21675530-T-A c.4542T>A p.Y1514* Nonsense 26/82 - 1
7-21675531-T-C c.4543T>C p.F1515L Missense 26/82 - 2
7-21675533-C-A c.4545C>A p.F1515L Missense 26/82 - 2
7-21675533-C-G c.4545C>G p.F1515L Missense 26/82 - 2
7-21675532-T-C c.4544T>C p.F1515S Missense 26/82 - 3
7-21675533-C-T c.4545C>T p.F1515= Synonymous 26/82 - 1
7-21675537-G-T c.4549G>T p.E1517* Nonsense 26/82 - 1
7-21675538-A-G c.4550A>G p.E1517G Missense 26/82 - 1
7-21675540-C-T c.4552C>T p.Q1518* Nonsense 26/82 - 1
7-21675544-T-A c.4556T>A p.V1519E Missense 26/82 - 1
7-21675563-A-G c.4575A>G p.K1525= Synonymous 26/82 - 2
7-21675564-TT-CC c.4576_4577delinsCC p.L1526P Missense 26/82 - 1
7-21675569-C-G c.4581C>G p.N1527K Missense 26/82 - 1
7-21675581-G-C c.4593G>C p.L1531F Missense 26/82 - 1
7-21675581-G-T c.4593G>T p.L1531F Missense 26/82 - 1
7-21675584-C-G c.4596C>G p.V1532= Synonymous 26/82 - 2
7-21675586-T-A c.4598T>A p.I1533N Missense 26/82 - 2
7-21675586-T-G c.4598T>G p.I1533S Missense 26/82 - 4
7-21675594-T-C c.4606T>C p.W1536R Missense 26/82 - 2
7-21675595-G-A c.4607G>A p.W1536* Nonsense 26/82 - 1
7-21675596-G-A c.4608G>A p.W1536* Nonsense 26/82 - 1
7-21675600-G-A c.4612G>A p.E1538K Missense 26/82 - 1
7-21675603-G-A c.4615G>A p.V1539I Missense 26/82 - 2
7-21675610-G-A c.4622G>A p.R1541Q Missense 26/82 - 8
7-21675614-T-A c.4626T>A p.T1542= Synonymous 26/82 - 1
7-21675614-T-C c.4626T>C p.T1542= Synonymous 26/82 - 1
7-21675614-T-G c.4626T>G p.T1542= Synonymous 26/82 - 1
7-21675616-G-C c.4628G>C p.W1543S Missense 26/82 - 1
7-21675621-C-G c.4633C>G p.H1545D Missense 26/82 - 1
7-21675621-C-T c.4633C>T p.H1545Y Missense 26/82 - 1
7-21675624-C-T c.4636C>T p.L1546= Synonymous 26/82 - 2
7-21675627-G-A c.4639G>A p.E1547K Missense 26/82 - 1
7-21675628-A-G c.4640A>G p.E1547G Missense 26/82 - 1
7-21675631-G-T c.4643G>T p.S1548I Missense 26/82 - 4
7-21675635-T-A c.4647T>A p.I1549= Synonymous 26/82 - 1
7-21675636-T-C c.4648T>C p.F1550L Missense 26/82 - 1
7-21675641-C-A c.4653C>A p.V1551= Synonymous 26/82 - 1
7-21675641-C-G c.4653C>G p.V1551= Synonymous 26/82 - 1
7-21675641-C-T c.4653C>T p.V1551= Synonymous 26/82 - 1
7-21675643-G-A c.4655G>A p.C1552Y Missense 26/82 - 2
7-21675652-A-G c.4664A>G p.D1555G Missense 26/82 - 1
7-21675655-T-C c.4667T>C p.I1556T Missense 26/82 - 1
7-21675657-C-T c.4669C>T p.R1557* Nonsense 26/82 - 3
7-21675658-G-A c.4670G>A p.R1557Q Missense 26/82 - 8
7-21675658-G-T c.4670G>T p.R1557L Missense 26/82 - 1
7-21675662-C-A c.4674C>A p.I1558= Synonymous 26/82 - 1
7-21675662-C-T c.4674C>T p.I1558= Synonymous 26/82 - 1
7-21675663-C-G c.4675C>G p.Q1559E Missense 26/82 - 1
7-21675676-A-G c.4688A>G p.D1563G Missense 26/82 - 1
7-21675680-T-A c.4692T>A p.A1564= Synonymous 26/82 - 1
7-21675680-T-C c.4692T>C p.A1564= Synonymous 26/82 - 1
7-21675680-T-G c.4692T>G p.A1564= Synonymous 26/82 - 1
7-21675681-A-G c.4693A>G p.R1565G Missense 26/82 - 1
7-21675681-A-C c.4693A>C p.R1565= Synonymous 26/82 - 1
7-21675683-A-G c.4695A>G p.R1565= Synonymous 26/82 - 1
7-21675684-AGA-TGT c.4696_4698delinsTGT p.R1566C Missense 26/82 - 1
7-21675688-T-C c.4700T>C p.F1567S Missense 26/82 - 1
7-21675690-G-A c.4702G>A p.D1568N Missense 26/82 - 1
7-21675694-G-A c.4706G>A p.G1569E Missense 26/82 - 1
7-21675695-G-A c.4707G>A p.G1569= Synonymous 26/82 - 3
7-21675695-G-C c.4707G>C p.G1569= Synonymous 26/82 - 1
7-21675695-G-T c.4707G>T p.G1569= Synonymous 26/82 - 1
7-21675692-T-TG c.4708dup p.V1570Gfs*4 Frameshift 26/82 - 1
7-21675696-G-A c.4708G>A p.V1570M Missense 26/82 - 1
7-21675696-G-C c.4708G>C p.V1570L Missense 26/82 - 1
7-21675696-G-T c.4708G>T p.V1570L Missense 26/82 - 1
7-21675698-G-A c.4710G>A p.V1570= Synonymous 26/82 - 1
7-21675699-G-C c.4711G>C p.D1571H Missense 26/82 - 1
7-21675701-T-C c.4713T>C p.D1571= Synonymous 26/82 - 2
7-21675703-C-T c.4715C>T p.A1572V Missense 26/82 - 2
7-21675711-A-G c.4723A>G p.K1575E Missense 26/82 - 1
7-21675713-G-C c.4725G>C p.K1575N Missense 26/82 - 1
7-21675714-G-T c.4725+1G>T - IntronicSNV - 26/81 1
7-21677065-A-G c.4726-164A>G - IntronicSNV - 26/81 2
7-21677065-A-T c.4726-164A>T - IntronicSNV - 26/81 2
7-21677204-G-A c.4726-25G>A - IntronicSNV - 26/81 1
7-21677214-T-C c.4726-15T>C - IntronicSNV - 26/81 2
7-21677232-T-C c.4729T>C p.L1577= Synonymous 27/82 - 2
7-21677234-A-G c.4731A>G p.L1577= Synonymous 27/82 - 2
7-21677236-T-C c.4733T>C p.M1578T Missense 27/82 - 2
7-21677237-G-C c.4734G>C p.M1578I Missense 27/82 - 2
7-21677247-G-A c.4744G>A p.A1582T Missense 27/82 - 1
7-21677250-A-C c.4747A>C p.K1583Q Missense 27/82 - 1
7-21677250-A-G c.4747A>G p.K1583E Missense 27/82 - 1
7-21677251-A-G c.4748A>G p.K1583R Missense 27/82 - 1
7-21677252-A-C c.4749A>C p.K1583N Missense 27/82 - 1
7-21677252-A-T c.4749A>T p.K1583N Missense 27/82 - 1
7-21677253-G-C c.4750G>C p.V1584L Missense 27/82 - 1
7-21677253-G-T c.4750G>T p.V1584L Missense 27/82 - 1
7-21677266-T-A c.4763T>A p.L1588* Nonsense 27/82 - 1
7-21677266-T-G c.4763T>G p.L1588* Nonsense 27/82 - 1
7-21677268-G-T c.4765G>T p.E1589* Nonsense 27/82 - 1
7-21677271-G-T c.4768G>T p.A1590S Missense 27/82 - 1
7-21677274-A-C c.4771A>C p.T1591P Missense 27/82 - 1
7-21677275-C-T c.4772C>T p.T1591M Missense 27/82 - 3
7-21677278-G-T c.4775G>T p.C1592F Missense 27/82 - 6
7-21677280-A-G c.4777A>G p.R1593G Missense 27/82 - 1
7-21677281-G-T c.4778G>T p.R1593I Missense 27/82 - 1
7-21677293-A-G c.4790A>G p.Y1597C Missense 27/82 - 1
7-21677295-G-A c.4792G>A p.E1598K Missense 27/82 - 3
7-21677308-A-G c.4805A>G p.D1602G Missense 27/82 - 1
7-21677310-T-G c.4807T>G p.L1603V Missense 27/82 - 1
7-21677313-C-A c.4810C>A p.Q1604K Missense 27/82 - 1
7-21677315-G-C c.4812G>C p.Q1604H Missense 27/82 - 1
7-21677315-G-T c.4812G>T p.Q1604H Missense 27/82 - 1
7-21677319-AG-CA c.4816_4817delinsCA p.R1606Q Missense 27/82 - 1
7-21677319-A-T c.4816A>T p.R1606W Missense 27/82 - 1
7-21677320-G-A c.4817G>A p.R1606K Missense 27/82 - 2
7-21678339-T-TGC c.4818-217_4818-216insCG - IntronicInsertion - 27/81 2
7-21678558-C-T c.4819C>T p.L1607F Missense 28/82 - 1
7-21678564-C-G c.4825C>G p.L1609V Missense 28/82 - 1
7-21678568-G-A c.4829G>A p.C1610Y Missense 28/82 - 1
7-21678570-G-A c.4831G>A p.E1611K Missense 28/82 - 4
7-21678570-G-T c.4831G>T p.E1611* Nonsense 28/82 - 1
7-21678571-A-T c.4832A>T p.E1611V Missense 28/82 - 1
7-21678572-A-T c.4833A>T p.E1611D Missense 28/82 - 1
7-21678576-G-T c.4837G>T p.A1613S Missense 28/82 - 2
7-21678579-C-T c.4840C>T p.L1614F Missense 28/82 - 1
7-21678582-G-A c.4843G>A p.A1615T Missense 28/82 - 1
7-21678582-G-T c.4843G>T p.A1615S Missense 28/82 - 1
7-21678585-G-A c.4846G>A p.E1616K Missense 28/82 - 2
7-21678590-C-A c.4851C>A p.Y1617* Nonsense 28/82 - 1
7-21678590-C-G c.4851C>G p.Y1617* Nonsense 28/82 - 1
7-21678590-C-T c.4851C>T p.Y1617= Synonymous 28/82 - 1
7-21678594-G-T c.4855G>T p.E1619* Nonsense 28/82 - 3
7-21678596-A-C c.4857A>C p.E1619D Missense 28/82 - 1
7-21678596-A-T c.4857A>T p.E1619D Missense 28/82 - 3
7-21678598-C-A c.4859C>A p.T1620N Missense 28/82 - 1
7-21678600-A-T c.4861A>T p.K1621* Nonsense 28/82 - 2
7-21678604-G-A c.4865G>A p.R1622H Missense 28/82 - 1
7-21678604-G-C c.4865G>C p.R1622P Missense 28/82 - 1
7-21678607-T-C c.4868T>C p.I1623T Missense 28/82 - 2
7-21678609-G-A c.4870G>A p.A1624T Missense 28/82 - 2
7-21678613-T-A c.4874T>A p.F1625Y Missense 28/82 - 1
7-21678616-C-T c.4877C>T p.P1626L Missense 28/82 - 4
7-21678618-C-T c.4879C>T p.R1627C Missense 28/82 - 6
7-21678619-G-A c.4880G>A p.R1627H Missense 28/82 - 2
7-21678619-G-C c.4880G>C p.R1627P Missense 28/82 - 1
7-21678621-T-C c.4882T>C p.F1628L Missense 28/82 - 1
7-21678623-C-A c.4884C>A p.F1628L Missense 28/82 - 1
7-21678623-C-G c.4884C>G p.F1628L Missense 28/82 - 1
7-21678623-C-T c.4884C>T p.F1628= Synonymous 28/82 - 1
7-21678624-T-C c.4885T>C p.Y1629H Missense 28/82 - 2
7-21678625-A-C c.4886A>C p.Y1629S Missense 28/82 - 1
7-21678625-A-G c.4886A>G p.Y1629C Missense 28/82 - 1
7-21678627-T-C c.4888T>C p.F1630L Missense 28/82 - 1
7-21678629-C-A c.4890C>A p.F1630L Missense 28/82 - 1
7-21678629-C-G c.4890C>G p.F1630L Missense 28/82 - 2
7-21678628-T-A c.4889T>A p.F1630Y Missense 28/82 - 1
7-21678629-C-T c.4890C>T p.F1630= Synonymous 28/82 - 5
7-21678630-G-A c.4891G>A p.V1631I Missense 28/82 - 3
7-21678636-TC-AA c.4897_4898delinsAA p.S1633N Missense 28/82 - 1
7-21678637-C-A c.4898C>A p.S1633Y Missense 28/82 - 3
7-21678640-C-G c.4901C>G p.A1634G Missense 28/82 - 1
7-21678642-G-A c.4903G>A p.D1635N Missense 28/82 - 2
7-21678642-G-T c.4903G>T p.D1635Y Missense 28/82 - 2
7-21678643-A-G c.4904A>G p.D1635G Missense 28/82 - 11
7-21678648-C-G c.4909C>G p.L1637V Missense 28/82 - 2
7-21678654-A-G c.4915A>G p.I1639V Missense 28/82 - 2
7-21678659-C-A c.4920C>A p.L1640= Synonymous 28/82 - 1
7-21678659-C-G c.4920C>G p.L1640= Synonymous 28/82 - 1
7-21678659-C-T c.4920C>T p.L1640= Synonymous 28/82 - 1
7-21678661-C-G c.4922C>G p.S1641* Nonsense 28/82 - 4
7-21678665-A-C c.4926A>C p.K1642N Missense 28/82 - 1
7-21678666-G-A c.4927G>A p.G1643R Missense 28/82 - 1
7-21678666-G-C c.4927G>C p.G1643R Missense 28/82 - 1
7-21678666-GGA-TGT c.4927_4929delinsTGT p.G1643C Missense 28/82 - 1
7-21678666-G-T c.4927G>T p.G1643* Nonsense 28/82 - 2
7-21678667-G-A c.4928G>A p.G1643E Missense 28/82 - 2
7-21678667-G-C c.4928G>C p.G1643A Missense 28/82 - 1
7-21678669-G-C c.4930G>C p.A1644P Missense 28/82 - 1
7-21678670-C-T c.4931C>T p.A1644V Missense 28/82 - 3
7-21678673-A-G c.4934A>G p.Q1645R Missense 28/82 - 1
7-21678674-G-C c.4935G>C p.Q1645H Missense 28/82 - 1
7-21678674-G-T c.4935G>T p.Q1645H Missense 28/82 - 2
7-21678676-C-G c.4937C>G p.P1646R Missense 28/82 - 1
7-21678680-A-C c.4941A>C p.K1647N Missense 28/82 - 1
7-21678681-C-A c.4942C>A p.Q1648K Missense 28/82 - 1
7-21678681-C-G c.4942C>G p.Q1648E Missense 28/82 - 1
7-21678684-G-A c.4944+1G>A - IntronicSNV - 28/81 2
7-21678689-A-G c.4944+6A>G - IntronicSNV - 28/81 1
7-21678741-G-A c.4944+58G>A - IntronicSNV - 28/81 1
7-21679487-T-G c.4944+804T>G - IntronicSNV - 28/81 1
7-21679486-GT-G c.4944+813del - IntronicDeletion - 28/81 1
7-21681438-G-A c.4944+2755G>A - IntronicSNV - 28/81 1
7-21687925-G-C c.4945-7525G>C - IntronicSNV - 28/81 3
7-21689723-C-A c.4945-5727C>A - IntronicSNV - 28/81 1
7-21689723-C-T c.4945-5727C>T - IntronicSNV - 28/81 1
7-21690571-T-TA c.4945-4879_4945-4878insA - IntronicInsertion - 28/81 1
7-21690571-T-TAA c.4945-4879_4945-4878insAA - IntronicInsertion - 28/81 1
7-21690571-T-TAAA c.4945-4879_4945-4878insAAA - IntronicInsertion - 28/81 1
7-21690572-T-A c.4945-4878T>A - IntronicSNV - 28/81 2
7-21691020-A-G c.4945-4430A>G - IntronicSNV - 28/81 1
7-21691020-A-T c.4945-4430A>T - IntronicSNV - 28/81 1
7-21691784-G-T c.4945-3666G>T - IntronicSNV - 28/81 1
7-21692144-C-T c.4945-3306C>T - IntronicSNV - 28/81 1
7-21695280-G-C c.4945-170G>C - IntronicSNV - 28/81 2
7-21695280-G-T c.4945-170G>T - IntronicSNV - 28/81 2
7-21695416-A-G c.4945-34A>G - IntronicSNV - 28/81 5
7-21695438-T-C c.4945-12T>C - IntronicSNV - 28/81 1
7-21695456-T-C c.4951T>C p.C1651R Missense 29/82 - 2
7-21695459-C-T c.4954C>T p.H1652Y Missense 29/82 - 2
7-21695464-T-G c.4959T>G p.L1653= Synonymous 29/82 - 1
7-21695466-C-G c.4961C>G p.A1654G Missense 29/82 - 1
7-21695469-A-G c.4964A>G p.K1655R Missense 29/82 - 1
7-21695471-C-G c.4966C>G p.L1656V Missense 29/82 - 1
7-21695476-C-T c.4971C>T p.F1657= Synonymous 29/82 - 1
7-21695477-G-A c.4972G>A p.D1658N Missense 29/82 - 2
7-21695479-C-G c.4974C>G p.D1658E Missense 29/82 - 1
7-21695481-G-A c.4976G>A p.S1659N Missense 29/82 - 2
7-21695484-T-C c.4979T>C p.I1660T Missense 29/82 - 1
7-21695489-G-C c.4984G>C p.D1662H Missense 29/82 - 1
7-21695490-A-T c.4985A>T p.D1662V Missense 29/82 - 1
7-21695495-C-A c.4990C>A p.Q1664K Missense 29/82 - 1
7-21695497-G-A c.4992G>A p.Q1664= Synonymous 29/82 - 1
7-21695500-T-G c.4995T>G p.F1665L Missense 29/82 - 1
7-21695502-A-G c.4997A>G p.E1666G Missense 29/82 - 1
7-21695504-G-A c.4999G>A p.D1667N Missense 29/82 - 2
7-21695504-G-T c.4999G>T p.D1667Y Missense 29/82 - 1
7-21695508-A-G c.5003A>G p.N1668S Missense 29/82 - 1
7-21695508-A-T c.5003A>T p.N1668I Missense 29/82 - 1
7-21695508-A-AT c.5004dup p.Q1669Sfs*26 Frameshift 29/82 - 1
7-21695510-C-G c.5005C>G p.Q1669E Missense 29/82 - 1
7-21695512-G-A c.5007G>A p.Q1669= Synonymous 29/82 - 1
7-21695513-G-A c.5008G>A p.D1670N Missense 29/82 - 2
7-21695513-G-C c.5008G>C p.D1670H Missense 29/82 - 1
7-21695514-A-G c.5009A>G p.D1670G Missense 29/82 - 1
7-21695520-C-T c.5015C>T p.S1672F Missense 29/82 - 2
7-21695523-C-A c.5018C>A p.A1673E Missense 29/82 - 1
7-21695525-C-T c.5020C>T p.H1674Y Missense 29/82 - 1
7-21695532-CA-AC c.5027_5028delinsAC p.A1676D Missense 29/82 - 1
7-21695533-A-G c.5028A>G p.A1676= Synonymous 29/82 - 1
7-21695538-G-A c.5033G>A p.G1678E Missense 29/82 - 2
7-21695538-G-C c.5033G>C p.G1678A Missense 29/82 - 2
7-21695540-A-T c.5035A>T p.M1679L Missense 29/82 - 1
7-21695541-T-C c.5036T>C p.M1679T Missense 29/82 - 1
7-21695547-G-T c.5042G>T p.S1681I Missense 29/82 - 1
7-21695550-A-C c.5045A>C p.K1682T Missense 29/82 - 1
7-21695552-G-T c.5047G>T p.E1683* Nonsense 29/82 - 2
7-21695556-A-C c.5051A>C p.K1684T Missense 29/82 - 1
7-21695557-G-T c.5052G>T p.K1684N Missense 29/82 - 1
7-21695558-G-A c.5053G>A p.E1685K Missense 29/82 - 2
7-21695558-G-T c.5053G>T p.E1685* Nonsense 29/82 - 1
7-21695564-G-A c.5059G>A p.V1687I Missense 29/82 - 1
7-21695567-C-T c.5062C>T p.P1688S Missense 29/82 - 1
7-21695568-C-A c.5063C>A p.P1688Q Missense 29/82 - 3
7-21695569-A-C c.5064A>C p.P1688= Synonymous 29/82 - 1
7-21695569-A-G c.5064A>G p.P1688= Synonymous 29/82 - 1
7-21695569-A-T c.5064A>T p.P1688= Synonymous 29/82 - 1
7-21695572-C-T c.5067C>T p.F1689= Synonymous 29/82 - 1
7-21695576-G-T c.5071G>T p.A1691S Missense 29/82 - 1
7-21695579-G-A c.5074G>A p.E1692K Missense 29/82 - 2
7-21695581-G-C c.5076G>C p.E1692D Missense 29/82 - 1
7-21695581-G-T c.5076G>T p.E1692D Missense 29/82 - 2
7-21695584-T-G c.5079T>G p.C1693W Missense 29/82 - 1
7-21695588-TG-AC c.5083_5084delinsAC p.C1695T Missense 29/82 - 1
7-21695589-G-A c.5084G>A p.C1695Y Missense 29/82 - 1
7-21695594-G-A c.5089G>A p.G1697S Missense 29/82 - 2
7-21695601-T-G c.5094+2T>G - IntronicSNV - 29/81 1
7-21695649-G-A c.5094+50G>A - IntronicSNV - 29/81 7
7-21697529-G-C c.5095-887G>C - IntronicSNV - 29/81 1
7-21697779-A-T c.5095-637A>T - IntronicSNV - 29/81 1
7-21698229-G-A c.5095-187G>A - IntronicSNV - 29/81 1
7-21698229-G-C c.5095-187G>C - IntronicSNV - 29/81 1
7-21698229-G-T c.5095-187G>T - IntronicSNV - 29/81 1
7-21698319-G-T c.5095-97G>T - IntronicSNV - 29/81 2
7-21698426-G-A c.5105G>A p.W1702* Nonsense 30/82 - 1
7-21698427-G-A c.5106G>A p.W1702* Nonsense 30/82 - 1
7-21698428-C-T c.5107C>T p.L1703F Missense 30/82 - 1
7-21698432-T-A c.5111T>A p.L1704Q Missense 30/82 - 1
7-21698433-G-T c.5112G>T p.L1704= Synonymous 30/82 - 1
7-21698439-T-A c.5118T>A p.L1706= Synonymous 30/82 - 1
7-21698439-T-C c.5118T>C p.L1706= Synonymous 30/82 - 1
7-21698439-T-G c.5118T>G p.L1706= Synonymous 30/82 - 1
7-21698443-C-A c.5122C>A p.Q1708K Missense 30/82 - 1
7-21698446-A-C c.5125A>C p.T1709P Missense 30/82 - 4
7-21698449-A-G c.5128A>G p.M1710V Missense 30/82 - 2
7-21698452-C-T c.5131C>T p.Q1711* Nonsense 30/82 - 1
7-21698453-A-G c.5132A>G p.Q1711R Missense 30/82 - 1
7-21698454-A-C c.5133A>C p.Q1711H Missense 30/82 - 1
7-21698454-A-G c.5133A>G p.Q1711= Synonymous 30/82 - 2
7-21698455-G-A c.5134G>A p.E1712K Missense 30/82 - 1
7-21698459-C-A c.5138C>A p.T1713K Missense 30/82 - 1
7-21698459-C-T c.5138C>T p.T1713M Missense 30/82 - 1
7-21698460-G-A c.5139G>A p.T1713= Synonymous 30/82 - 1
7-21698460-G-C c.5139G>C p.T1713= Synonymous 30/82 - 1
7-21698463-G-A c.5142G>A p.V1714= Synonymous 30/82 - 1
7-21698463-G-C c.5142G>C p.V1714= Synonymous 30/82 - 1
7-21698463-G-T c.5142G>T p.V1714= Synonymous 30/82 - 1
7-21698464-C-T c.5143C>T p.R1715C Missense 30/82 - 2
7-21698465-G-A c.5144G>A p.R1715H Missense 30/82 - 4
7-21698465-G-C c.5144G>C p.R1715P Missense 30/82 - 1
7-21698468-A-G c.5147A>G p.H1716R Missense 30/82 - 3
7-21698471-C-T c.5150C>T p.S1717F Missense 30/82 - 1
7-21698473-A-G c.5152A>G p.I1718V Missense 30/82 - 4
7-21698479-G-A c.5158G>A p.E1720K Missense 30/82 - 2
7-21698479-G-C c.5158G>C p.E1720Q Missense 30/82 - 1
7-21698483-C-A c.5162C>A p.A1721D Missense 30/82 - 2
7-21698486-T-C c.5165T>C p.I1722T Missense 30/82 - 1
7-21698489-T-G c.5168T>G p.V1723G Missense 30/82 - 1
7-21698491-G-A c.5170G>A p.A1724T Missense 30/82 - 1
7-21698492-C-A c.5171C>A p.A1724D Missense 30/82 - 1
7-21698492-C-T c.5171C>T p.A1724V Missense 30/82 - 1
7-21698496-C-T c.5175C>T p.Y1725= Synonymous 30/82 - 2
7-21698497-G-A c.5176G>A p.E1726K Missense 30/82 - 7
7-21698500-G-A c.5179G>A p.E1727K Missense 30/82 - 3
7-21698506-C-A c.5185C>A p.P1729T Missense 30/82 - 1
7-21698506-C-T c.5185C>T p.P1729S Missense 30/82 - 3
7-21698507-C-T c.5186C>T p.P1729L Missense 30/82 - 1
7-21698511-G-C c.5190G>C p.R1730S Missense 30/82 - 1
7-21698511-G-T c.5190G>T p.R1730S Missense 30/82 - 2
7-21698512-G-A c.5191G>A p.E1731K Missense 30/82 - 4
7-21698512-G-C c.5191G>C p.E1731Q Missense 30/82 - 1
7-21698517-G-T c.5196G>T p.L1732= Synonymous 30/82 - 1
7-21698519-G-A c.5198G>A p.W1733* Nonsense 30/82 - 2
7-21698520-G-A c.5199G>A p.W1733* Nonsense 30/82 - 3
7-21698520-G-C c.5199G>C p.W1733C Missense 30/82 - 1
7-21698520-G-T c.5199G>T p.W1733C Missense 30/82 - 1
7-21698527-G-A c.5206G>A p.D1736N Missense 30/82 - 1
7-21698530-T-C c.5209T>C p.F1737L Missense 30/82 - 1
7-21698532-C-A c.5211C>A p.F1737L Missense 30/82 - 1
7-21698532-C-G c.5211C>G p.F1737L Missense 30/82 - 1
7-21698532-C-T c.5211C>T p.F1737= Synonymous 30/82 - 1
7-21698542-G-A c.5221G>A p.V1741I Missense 30/82 - 1
7-21698545-G-A c.5224G>A p.A1742T Missense 30/82 - 1
7-21698548-C-T c.5227C>T p.L1743= Synonymous 30/82 - 1
7-21698550-A-C c.5229A>C p.L1743= Synonymous 30/82 - 1
7-21698550-A-G c.5229A>G p.L1743= Synonymous 30/82 - 1
7-21698550-A-T c.5229A>T p.L1743= Synonymous 30/82 - 1
7-21698553-C-A c.5232C>A p.T1744= Synonymous 30/82 - 1
7-21698553-C-G c.5232C>G p.T1744= Synonymous 30/82 - 1
7-21698553-C-T c.5232C>T p.T1744= Synonymous 30/82 - 1
7-21698554-A-G c.5233A>G p.S1745G Missense 30/82 - 1
7-21698558-C-T c.5237C>T p.S1746L Missense 30/82 - 1
7-21698562-A-G c.5241A>G p.Q1747= Synonymous 30/82 - 1
7-21698563-A-G c.5242A>G p.I1748V Missense 30/82 - 1
7-21698566-T-A c.5245T>A p.W1749R Missense 30/82 - 1
7-21698566-T-C c.5245T>C p.W1749R Missense 30/82 - 1
7-21698568-G-A c.5247G>A p.W1749* Nonsense 30/82 - 1
7-21698578-G-A c.5257G>A p.D1753N Missense 30/82 - 2
7-21698578-G-C c.5257G>C p.D1753H Missense 30/82 - 1
7-21698581-G-A c.5260G>A p.V1754I Missense 30/82 - 1
7-21698584-G-A c.5263G>A p.G1755R Missense 30/82 - 1
7-21698585-G-A c.5264G>A p.G1755E Missense 30/82 - 3
7-21698587-A-G c.5266A>G p.I1756V Missense 30/82 - 1
7-21698588-T-A c.5267T>A p.I1756K Missense 30/82 - 1
7-21698591-C-T c.5270C>T p.A1757V Missense 30/82 - 1
7-21698597-G-A c.5276G>A p.S1759N Missense 30/82 - 1
7-21698599-AGA-TGT c.5278_5280delinsTGT p.R1760C Missense 30/82 - 1
7-21698600-G-C c.5279G>C p.R1760T Missense 30/82 - 1
7-21698604-G-T c.5283G>T p.L1761= Synonymous 30/82 - 1
7-21698605-G-A c.5284G>A p.E1762K Missense 30/82 - 1
7-21698611-GG-AC c.5290_5291delinsAC p.G1764T Missense 30/82 - 1
7-21698616-C-T c.5295C>T p.Y1765= Synonymous 30/82 - 1
7-21698617-G-A c.5296G>A p.E1766K Missense 30/82 - 4
7-21698622-A-C c.5301A>C p.T1767= Synonymous 30/82 - 1
7-21698622-A-G c.5301A>G p.T1767= Synonymous 30/82 - 1
7-21698622-A-T c.5301A>T p.T1767= Synonymous 30/82 - 1
7-21698625-C-CTATGCAAGAAACGGTGCGTCATT c.5304_5305insTATGCAAGAAACGGTGCGTCATT p.L1769Yfs*9 Frameshift 30/82 - 1
7-21698626-C-T c.5305C>T p.L1769= Synonymous 30/82 - 1
7-21698631-G-A c.5310G>A p.K1770= Synonymous 30/82 - 1
7-21698631-G-C c.5310G>C p.K1770N Missense 30/82 - 1
7-21698631-G-T c.5310G>T p.K1770N Missense 30/82 - 1
7-21698632-G-A c.5311G>A p.D1771N Missense 30/82 - 3
7-21698633-A-T c.5312A>T p.D1771V Missense 30/82 - 1
7-21698637-C-T c.5316C>T p.F1772= Synonymous 30/82 - 2
7-21698638-C-T c.5317C>T p.H1773Y Missense 30/82 - 2
7-21698639-A-G c.5318A>G p.H1773R Missense 30/82 - 1
7-21698641-A-T c.5320A>T p.K1774* Nonsense 30/82 - 2
7-21698646-A-G c.5325A>G p.K1775= Synonymous 30/82 - 1
7-21698649-G-C c.5328G>C p.Q1776H Missense 30/82 - 1
7-21698650-G-T c.5328+1G>T - IntronicSNV - 30/81 1
7-21698780-A-C c.5328+131A>C - IntronicSNV - 30/81 1
7-21701444-AT-A c.5328+2805del - IntronicDeletion - 30/81 1
7-21704005-T-C c.5328+5356T>C - IntronicSNV - 30/81 1
7-21705160-CT-C c.5328+6519del - IntronicDeletion - 30/81 1
7-21715525-C-T c.5329-5639C>T - IntronicSNV - 30/81 1
7-21720159-T-A c.5329-1005T>A - IntronicSNV - 30/81 1
7-21720159-T-G c.5329-1005T>G - IntronicSNV - 30/81 1
7-21720934-A-G c.5329-230A>G - IntronicSNV - 30/81 1
7-21721086-A-G c.5329-78A>G - IntronicSNV - 30/81 1
7-21721130-C-A c.5329-34C>A - IntronicSNV - 30/81 1
7-21721130-C-G c.5329-34C>G - IntronicSNV - 30/81 1
7-21721134-C-G c.5329-30C>G - IntronicSNV - 30/81 1
7-21721165-T-G c.5330T>G p.I1777S Missense 31/82 - 1
7-21721168-C-G c.5333C>G p.S1778C Missense 31/82 - 1
7-21721170-C-G c.5335C>G p.Q1779E Missense 31/82 - 1
7-21721170-C-T c.5335C>T p.Q1779* Nonsense 31/82 - 5
7-21721173-C-T c.5338C>T p.L1780= Synonymous 31/82 - 1
7-21721179-A-C c.5344A>C p.T1782P Missense 31/82 - 1
7-21721179-A-G c.5344A>G p.T1782A Missense 31/82 - 1
7-21721184-G-A c.5349G>A p.L1783= Synonymous 31/82 - 1
7-21721189-C-T c.5354C>T p.T1785I Missense 31/82 - 1
7-21721194-T-C c.5359T>C p.L1787= Synonymous 31/82 - 2
7-21721196-G-A c.5361G>A p.L1787= Synonymous 31/82 - 1
7-21721197-C-T c.5362C>T p.L1788= Synonymous 31/82 - 1
7-21721199-G-A c.5364G>A p.L1788= Synonymous 31/82 - 3
7-21721199-G-C c.5364G>C p.L1788= Synonymous 31/82 - 1
7-21721199-G-T c.5364G>T p.L1788= Synonymous 31/82 - 1
7-21721200-G-A c.5365G>A p.G1789R Missense 31/82 - 1
7-21721200-G-C c.5365G>C p.G1789R Missense 31/82 - 1
7-21721201-G-T c.5366G>T p.G1789V Missense 31/82 - 1
7-21721202-GA-G c.5367del p.E1790Nfs*11 Frameshift 31/82 - 1
7-21721203-G-A c.5368G>A p.E1790K Missense 31/82 - 1
7-21721203-G-T c.5368G>T p.E1790* Nonsense 31/82 - 1
7-21721207-T-C c.5372T>C p.L1791P Missense 31/82 - 1
7-21721208-T-G c.5373T>G p.L1791= Synonymous 31/82 - 1
7-21721215-G-T c.5380G>T p.G1794* Nonsense 31/82 - 1
7-21721218-G-A c.5383G>A p.D1795N Missense 31/82 - 1
7-21721219-A-G c.5384A>G p.D1795G Missense 31/82 - 2
7-21721225-A-G c.5390A>G p.Q1797R Missense 31/82 - 1
7-21721228-A-G c.5393A>G p.K1798R Missense 31/82 - 1
7-21721230-A-C c.5395A>C p.I1799L Missense 31/82 - 1
7-21721232-C-T c.5397C>T p.I1799= Synonymous 31/82 - 1
7-21721235-G-A c.5400G>A p.M1800I Missense 31/82 - 1
7-21721236-A-C c.5401A>C p.T1801P Missense 31/82 - 1
7-21721235-GACA-G c.5402_5404del p.T1801del InFrameDeletion 31/82 - 1
7-21721243-G-T c.5408G>T p.C1803F Missense 31/82 - 1
7-21721244-T-A c.5409T>A p.C1803* Nonsense 31/82 - 1
7-21721245-A-G c.5410A>G p.T1804A Missense 31/82 - 2
7-21721246-C-T c.5411C>T p.T1804I Missense 31/82 - 1
7-21721247-C-A c.5412C>A p.T1804= Synonymous 31/82 - 1
7-21721247-C-G c.5412C>G p.T1804= Synonymous 31/82 - 1
7-21721247-C-T c.5412C>T p.T1804= Synonymous 31/82 - 3
7-21721248-A-G c.5413A>G p.I1805V Missense 31/82 - 1
7-21721251-G-A c.5416G>A p.D1806N Missense 31/82 - 1
7-21721257-C-T c.5422C>T p.H1808Y Missense 31/82 - 1
7-21721259-T-A c.5424T>A p.H1808Q Missense 31/82 - 1
7-21721261-C-T c.5426C>T p.A1809V Missense 31/82 - 1
7-21721263-A-G c.5428A>G p.R1810G Missense 31/82 - 1
7-21721264-G-A c.5429G>A p.R1810K Missense 31/82 - 2
7-21721266-G-T c.5431G>T p.D1811Y Missense 31/82 - 1
7-21721269-G-A c.5434G>A p.V1812M Missense 31/82 - 1
7-21721273-T-G c.5438T>G p.V1813G Missense 31/82 - 1
7-21721275-G-A c.5440G>A p.A1814T Missense 31/82 - 2
7-21721279-A-G c.5444A>G p.K1815R Missense 31/82 - 1
7-21721281-C-G c.5446C>G p.L1816V Missense 31/82 - 1
7-21721282-T-A c.5447T>A p.L1816H Missense 31/82 - 1
7-21721288-C-A c.5453C>A p.S1818Y Missense 31/82 - 2
7-21721288-C-T c.5453C>T p.S1818F Missense 31/82 - 3
7-21721292-G-C c.5457G>C p.Q1819H Missense 31/82 - 1
7-21721300-G-C c.5460+5G>C - IntronicSNV - 31/81 1
7-21721301-T-C c.5460+6T>C - IntronicSNV - 31/81 1
7-21721378-G-A c.5460+83G>A - IntronicSNV - 31/81 1
7-21721420-A-T c.5460+125A>T - IntronicSNV - 31/81 1
7-21722168-A-T c.5460+873A>T - IntronicSNV - 31/81 1
7-21722330-C-T c.5460+1035C>T - IntronicSNV - 31/81 1
7-21723355-C-G c.5461-47C>G - IntronicSNV - 31/81 1
7-21723355-C-T c.5461-47C>T - IntronicSNV - 31/81 1
7-21723403-T-A c.5462T>A p.V1821D Missense 32/82 - 1
7-21723407-C-CT c.5466_5467insT p.S1823* Nonsense 32/82 - 1
7-21723407-C-T c.5466C>T p.V1822= Synonymous 32/82 - 1
7-21723408-AG-TA c.5467_5468delinsTA p.S1823Y Missense 32/82 - 2
7-21723412-C-T c.5471C>T p.P1824L Missense 32/82 - 2
7-21723410-T-TC c.5473dup p.Q1825Pfs*23 Frameshift 32/82 - 3
7-21723416-A-G c.5475A>G p.Q1825= Synonymous 32/82 - 1
7-21723422-T-C c.5481T>C p.F1827= Synonymous 32/82 - 1
7-21723424-C-T c.5483C>T p.T1828I Missense 32/82 - 1
7-21723429-C-T c.5488C>T p.L1830= Synonymous 32/82 - 5
7-21723431-G-A c.5490G>A p.L1830= Synonymous 32/82 - 16
7-21723431-G-C c.5490G>C p.L1830= Synonymous 32/82 - 5
7-21723431-G-T c.5490G>T p.L1830= Synonymous 32/82 - 5
7-21723432-T-A c.5491T>A p.S1831T Missense 32/82 - 3
7-21723437-A-G c.5496A>G p.Q1832= Synonymous 32/82 - 1
7-21723437-A-T c.5496A>T p.Q1832H Missense 32/82 - 2
7-21723441-C-G c.5500C>G p.R1834G Missense 32/82 - 2
7-21723441-C-T c.5500C>T p.R1834C Missense 32/82 - 10
7-21723442-G-A c.5501G>A p.R1834H Missense 32/82 - 4
7-21723442-G-T c.5501G>T p.R1834L Missense 32/82 - 1
7-21723447-C-G c.5506C>G p.R1836G Missense 32/82 - 1
7-21723447-C-T c.5506C>T p.R1836* Nonsense 32/82 - 5
7-21723448-G-A c.5507G>A p.R1836Q Missense 32/82 - 4
7-21723452-G-A c.5511G>A p.W1837* Nonsense 32/82 - 2
7-21723452-GGGAGGATACCCAGAA-G c.5511_5525del p.W1837_K1842delins* MultiAAMissense 32/82 - 1
7-21723453-G-T c.5512G>T p.E1838* Nonsense 32/82 - 2
7-21723453-GAGGATACCCAGAAAC-G c.5514_5528del p.E1838_H1843delinsD MultiAAMissense 32/82 - 1
7-21723456-G-A c.5515G>A p.D1839N Missense 32/82 - 1
7-21723460-C-T c.5519C>T p.T1840I Missense 32/82 - 1
7-21723461-C-A c.5520C>A p.T1840= Synonymous 32/82 - 1
7-21723461-C-G c.5520C>G p.T1840= Synonymous 32/82 - 1
7-21723461-C-T c.5520C>T p.T1840= Synonymous 32/82 - 1
7-21723462-C-T c.5521C>T p.Q1841* Nonsense 32/82 - 1
7-21723468-C-T c.5527C>T p.H1843Y Missense 32/82 - 2
7-21723472-G-A c.5531G>A p.C1844Y Missense 32/82 - 1
7-21723475-T-C c.5534T>C p.F1845S Missense 32/82 - 1
7-21723484-T-C c.5543T>C p.I1848T Missense 32/82 - 1
7-21723484-T-G c.5543T>G p.I1848S Missense 32/82 - 4
7-21723485-T-C c.5544T>C p.I1848= Synonymous 32/82 - 1
7-21723485-T-G c.5544T>G p.I1848M Missense 32/82 - 1
7-21723492-G-A c.5551G>A p.A1851T Missense 32/82 - 1
7-21723493-C-T c.5552C>T p.A1851V Missense 32/82 - 1
7-21723495-C-A c.5554C>A p.Q1852K Missense 32/82 - 1
7-21723497-G-A c.5556G>A p.Q1852= Synonymous 32/82 - 1
7-21723498-T-C c.5557T>C p.F1853L Missense 32/82 - 3
7-21723500-C-A c.5559C>A p.F1853L Missense 32/82 - 3
7-21723500-C-G c.5559C>G p.F1853L Missense 32/82 - 4
7-21723499-T-C c.5558T>C p.F1853S Missense 32/82 - 1
7-21723500-C-T c.5559C>T p.F1853= Synonymous 32/82 - 1
7-21723501-C-T c.5560C>T p.Q1854* Nonsense 32/82 - 1
7-21723504-T-C c.5563T>C p.Y1855H Missense 32/82 - 1
7-21723507-T-C c.5566T>C p.F1856L Missense 32/82 - 1
7-21723509-C-A c.5568C>A p.F1856L Missense 32/82 - 1
7-21723509-C-G c.5568C>G p.F1856L Missense 32/82 - 2
7-21723519-T-G c.5578T>G p.L1860V Missense 32/82 - 1
7-21723518-CT-C c.5579del p.L1860* Frameshift 32/82 - 1
7-21723520-T-C c.5579T>C p.L1860S Missense 32/82 - 1
7-21723522-G-A c.5581G>A p.G1861R Missense 32/82 - 1
7-21723522-G-C c.5581G>C p.G1861R Missense 32/82 - 1
7-21723523-G-A c.5582G>A p.G1861E Missense 32/82 - 1
7-21723529-G-C c.5588G>C p.S1863T Missense 32/82 - 1
7-21723530-C-A c.5589C>A p.S1863R Missense 32/82 - 1
7-21723532-C-G c.5591C>G p.P1864R Missense 32/82 - 1
7-21723535-G-A c.5594G>A p.R1865Q Missense 32/82 - 3
7-21723535-GA-AT c.5594_5595delinsAT p.R1865H Missense 32/82 - 1
7-21723539-A-G c.5598A>G p.L1866= Synonymous 32/82 - 1
7-21723549-C-T c.5608C>T p.P1870S Missense 32/82 - 5
7-21723550-C-T c.5609C>T p.P1870L Missense 32/82 - 1
7-21723552-C-T c.5611C>T p.L1871= Synonymous 32/82 - 3
7-21723555-A-T c.5614A>T p.T1872S Missense 32/82 - 1
7-21723556-C-A c.5615C>A p.T1872N Missense 32/82 - 1
7-21723556-C-G c.5615C>G p.T1872S Missense 32/82 - 1
7-21723556-C-T c.5615C>T p.T1872I Missense 32/82 - 1
7-21723560-C-T c.5619C>T p.D1873= Synonymous 32/82 - 1
7-21723562-G-A c.5621G>A p.R1874K Missense 32/82 - 1
7-21723573-A-T c.5621+11A>T - IntronicSNV - 32/81 4
7-21723574-A-T c.5621+12A>T - IntronicSNV - 32/81 1
7-21723679-T-C c.5621+117T>C - IntronicSNV - 32/81 2
7-21726717-G-A c.5622G>A p.R1874= Synonymous 33/82 - 1
7-21726718-TG-AC c.5623_5624delinsAC p.C1875T Missense 33/82 - 1
7-21726728-C-T c.5633C>T p.T1878I Missense 33/82 - 1
7-21726729-C-T c.5634C>T p.T1878= Synonymous 33/82 - 1
7-21726730-T-C c.5635T>C p.L1879= Synonymous 33/82 - 2
7-21726732-A-G c.5637A>G p.L1879= Synonymous 33/82 - 2
7-21726731-T-A c.5636T>A p.L1879* Nonsense 33/82 - 3
7-21726731-T-C c.5636T>C p.L1879S Missense 33/82 - 1
7-21726732-A-C c.5637A>C p.L1879F Missense 33/82 - 1
7-21726735-T-A c.5640T>A p.T1880= Synonymous 33/82 - 1
7-21726735-T-C c.5640T>C p.T1880= Synonymous 33/82 - 1
7-21726735-T-G c.5640T>G p.T1880= Synonymous 33/82 - 1
7-21726738-A-C c.5643A>C p.Q1881H Missense 33/82 - 1
7-21726738-A-T c.5643A>T p.Q1881H Missense 33/82 - 2
7-21726739-T-G c.5644T>G p.S1882A Missense 33/82 - 1
7-21726742-C-T c.5647C>T p.L1883F Missense 33/82 - 1
7-21726746-A-G c.5651A>G p.H1884R Missense 33/82 - 1
7-21726752-C-G c.5657C>G p.T1886S Missense 33/82 - 1
7-21726755-T-C c.5660T>C p.M1887T Missense 33/82 - 1
7-21726760-G-A c.5665G>A p.G1889R Missense 33/82 - 3
7-21726761-G-T c.5666G>T p.G1889V Missense 33/82 - 1
7-21726762-G-A c.5667G>A p.G1889= Synonymous 33/82 - 1
7-21726764-C-G c.5669C>G p.A1890G Missense 33/82 - 1
7-21726769-G-A c.5674G>A p.A1892T Missense 33/82 - 1
7-21726772-G-A c.5677G>A p.G1893S Missense 33/82 - 1
7-21726772-G-T c.5677G>T p.G1893C Missense 33/82 - 2
7-21726773-G-C c.5678G>C p.G1893A Missense 33/82 - 1
7-21726773-G-T c.5678G>T p.G1893V Missense 33/82 - 1
7-21726775-C-T c.5680C>T p.P1894S Missense 33/82 - 1
7-21726778-G-C c.5683G>C p.A1895P Missense 33/82 - 1
7-21726786-C-T c.5691C>T p.T1897= Synonymous 33/82 - 1
7-21726787-G-A c.5692G>A p.G1898R Missense 33/82 - 1
7-21726788-G-T c.5693G>T p.G1898V Missense 33/82 - 1
7-21726789-G-A c.5694G>A p.G1898= Synonymous 33/82 - 1
7-21726789-G-C c.5694G>C p.G1898= Synonymous 33/82 - 1
7-21726789-G-T c.5694G>T p.G1898= Synonymous 33/82 - 1
7-21726790-A-G c.5695A>G p.K1899E Missense 33/82 - 1
7-21726792-AAC-A c.5699_5700del p.T1900Rfs*33 Frameshift 33/82 - 1
7-21726796-G-A c.5701G>A p.E1901K Missense 33/82 - 2
7-21726796-G-C c.5701G>C p.E1901Q Missense 33/82 - 1
7-21726797-A-C c.5702A>C p.E1901A Missense 33/82 - 6
7-21726797-A-G c.5702A>G p.E1901G Missense 33/82 - 1
7-21726801-C-T c.5706C>T p.T1902= Synonymous 33/82 - 1
7-21726808-G-T c.5713G>T p.D1905Y Missense 33/82 - 1
7-21726817-C-A c.5722C>A p.R1908S Missense 33/82 - 2
7-21726817-C-T c.5722C>T p.R1908C Missense 33/82 - 1
7-21726818-G-A c.5723G>A p.R1908H Missense 33/82 - 1
7-21726822-C-A c.5727C>A p.A1909= Synonymous 33/82 - 1
7-21726822-C-G c.5727C>G p.A1909= Synonymous 33/82 - 1
7-21726822-C-T c.5727C>T p.A1909= Synonymous 33/82 - 2
7-21726823-C-T c.5728C>T p.L1910F Missense 33/82 - 2
7-21726827-G-A c.5732G>A p.G1911D Missense 33/82 - 1
7-21726835-G-T c.5740G>T p.V1914F Missense 33/82 - 1
7-21726839-A-G c.5744A>G p.Y1915C Missense 33/82 - 1
7-21726850-T-A c.5755T>A p.C1919S Missense 33/82 - 1
7-21726851-G-C c.5756G>C p.C1919S Missense 33/82 - 1
7-21726856-G-A c.5761G>A p.E1921K Missense 33/82 - 1
7-21726856-G-T c.5761G>T p.E1921* Nonsense 33/82 - 1
7-21726860-A-G c.5765A>G p.Q1922R Missense 33/82 - 1
7-21726865-G-C c.5770G>C p.D1924H Missense 33/82 - 1
7-21726874-G-A c.5778+1G>A - IntronicSNV - 33/81 5
7-21726879-T-G c.5778+6T>G - IntronicSNV - 33/81 1
7-21727000-T-C c.5779T>C p.S1927P Missense 34/82 - 1
7-21727002-C-T c.5781C>T p.S1927= Synonymous 34/82 - 1
7-21727007-G-A c.5786G>A p.G1929D Missense 34/82 - 1
7-21727008-C-A c.5787C>A p.G1929= Synonymous 34/82 - 1
7-21727008-C-G c.5787C>G p.G1929= Synonymous 34/82 - 1
7-21727008-C-T c.5787C>T p.G1929= Synonymous 34/82 - 1
7-21727011-T-C c.5790T>C p.N1930= Synonymous 34/82 - 2
7-21727011-T-TTC c.5790_5791insTC p.I1931Sfs*33 Frameshift 34/82 - 1
7-21727014-C-CT c.5794dup p.Y1932Lfs*2 Frameshift 34/82 - 1
7-21727015-T-C c.5794T>C p.Y1932H Missense 34/82 - 1
7-21727016-A-C c.5795A>C p.Y1932S Missense 34/82 - 1
7-21727016-A-G c.5795A>G p.Y1932C Missense 34/82 - 2
7-21727019-A-C c.5798A>C p.K1933T Missense 34/82 - 1
7-21727020-G-A c.5799G>A p.K1933= Synonymous 34/82 - 1
7-21727024-T-C c.5803T>C p.L1935= Synonymous 34/82 - 2
7-21727026-G-A c.5805G>A p.L1935= Synonymous 34/82 - 1
7-21727026-G-C c.5805G>C p.L1935F Missense 34/82 - 2
7-21727027-G-A c.5806G>A p.V1936M Missense 34/82 - 3
7-21727028-T-A c.5807T>A p.V1936E Missense 34/82 - 2
7-21727036-G-A c.5815G>A p.G1939R Missense 34/82 - 4
7-21727036-G-C c.5815G>C p.G1939R Missense 34/82 - 1
7-21727043-G-C c.5822G>C p.W1941S Missense 34/82 - 3
7-21727046-G-C c.5825G>C p.G1942A Missense 34/82 - 1
7-21727057-G-A c.5836G>A p.E1946K Missense 34/82 - 1
7-21727058-GA-G c.5837del p.E1946Gfs*17 Frameshift 34/82 - 1
7-21727059-G-A c.5838G>A p.E1946= Synonymous 34/82 - 2
7-21727064-ACCGAATCT-A c.5845_5852del p.R1949Cfs*16 Frameshift 34/82 - 1
7-21727067-G-A c.5846G>A p.R1949Q Missense 34/82 - 5
7-21727073-C-T c.5852C>T p.S1951F Missense 34/82 - 2
7-21727076-T-A c.5855T>A p.V1952E Missense 34/82 - 1
7-21727078-G-T c.5857G>T p.E1953* Nonsense 34/82 - 1
7-21727096-G-A c.5875G>A p.A1959T Missense 34/82 - 1
7-21727099-G-A c.5878G>A p.V1960I Missense 34/82 - 3
7-21727103-A-T c.5882A>T p.Q1961L Missense 34/82 - 1
7-21727107-G-A c.5886G>A p.V1962= Synonymous 34/82 - 1
7-21727107-G-C c.5886G>C p.V1962= Synonymous 34/82 - 1
7-21727107-G-T c.5886G>T p.V1962= Synonymous 34/82 - 1
7-21727112-T-C c.5891T>C p.M1964T Missense 34/82 - 1
7-21727124-C-T c.5903C>T p.A1968V Missense 34/82 - 2
7-21727128-C-T c.5907C>T p.I1969= Synonymous 34/82 - 1
7-21727129-A-G c.5908A>G p.R1970G Missense 34/82 - 1
7-21727129-AGA-CAT c.5908_5910delinsCAT p.R1970H Missense 34/82 - 1
7-21727130-G-A c.5909G>A p.R1970K Missense 34/82 - 1
7-21727135-A-T c.5914A>T p.R1972W Missense 34/82 - 1
7-21727137-G-A c.5916G>A p.R1972= Synonymous 34/82 - 2
7-21727140-G-A c.5919G>A p.K1973= Synonymous 34/82 - 1
7-21727140-G-T c.5919G>T p.K1973N Missense 34/82 - 1
7-21727141-A-G c.5920A>G p.K1974E Missense 34/82 - 1
7-21727146-G-C c.5924+1G>C - IntronicSNV - 34/81 1
7-21727186-A-G c.5924+41A>G - IntronicSNV - 34/81 2
7-21727271-C-T c.5924+126C>T - IntronicSNV - 34/81 1
7-21730209-A-G c.5925-174A>G - IntronicSNV - 34/81 1
7-21730223-A-G c.5925-160A>G - IntronicSNV - 34/81 1
7-21730326-A-G c.5925-57A>G - IntronicSNV - 34/81 1
7-21730386-T-C c.5928T>C p.F1976= Synonymous 35/82 - 2
7-21730390-T-G c.5932T>G p.F1978V Missense 35/82 - 1
7-21730390-TTTC-T c.5935_5937del p.L1979del InFrameDeletion 35/82 - 1
7-21730393-C-A c.5935C>A p.L1979I Missense 35/82 - 1
7-21730394-T-C c.5936T>C p.L1979P Missense 35/82 - 1
7-21730396-G-T c.5938G>T p.G1980W Missense 35/82 - 2
7-21730398-G-A c.5940G>A p.G1980= Synonymous 35/82 - 3
7-21730398-G-C c.5940G>C p.G1980= Synonymous 35/82 - 2
7-21730398-G-T c.5940G>T p.G1980= Synonymous 35/82 - 2
7-21730399-G-A c.5941G>A p.E1981K Missense 35/82 - 2
7-21730401-A-G c.5943A>G p.E1981= Synonymous 35/82 - 1
7-21730404-T-A c.5946T>A p.A1982= Synonymous 35/82 - 1
7-21730404-T-C c.5946T>C p.A1982= Synonymous 35/82 - 1
7-21730404-T-G c.5946T>G p.A1982= Synonymous 35/82 - 1
7-21730405-A-T c.5947A>T p.I1983F Missense 35/82 - 1
7-21730409-C-T c.5951C>T p.T1984I Missense 35/82 - 3
7-21730414-A-T c.5956A>T p.K1986* Nonsense 35/82 - 1
7-21730417-C-T c.5959C>T p.P1987S Missense 35/82 - 1
7-21730420-T-A c.5962T>A p.S1988T Missense 35/82 - 1
7-21730422-A-G c.5964A>G p.S1988= Synonymous 35/82 - 1
7-21730427-G-C c.5969G>C p.G1990A Missense 35/82 - 2
7-21730432-T-C c.5974T>C p.F1992L Missense 35/82 - 1
7-21730436-T-C c.5978T>C p.I1993T Missense 35/82 - 1
7-21730438-A-G c.5980A>G p.T1994A Missense 35/82 - 2
7-21730439-C-T c.5981C>T p.T1994I Missense 35/82 - 1
7-21730442-T-C c.5984T>C p.M1995T Missense 35/82 - 1
7-21730446-C-A c.5988C>A p.N1996K Missense 35/82 - 1
7-21730447-C-T c.5989C>T p.P1997S Missense 35/82 - 1
7-21730442-TGAACCCGGGTTATGCTGGTC-T c.5990_6009del p.P1997Rfs*19 Frameshift 35/82 - 1
7-21730448-C-A c.5990C>A p.P1997Q Missense 35/82 - 1
7-21730448-C-T c.5990C>T p.P1997L Missense 35/82 - 1
7-21730449-G-A c.5991G>A p.P1997= Synonymous 35/82 - 1
7-21730449-G-C c.5991G>C p.P1997= Synonymous 35/82 - 1
7-21730449-G-T c.5991G>T p.P1997= Synonymous 35/82 - 1
7-21730451-G-C c.5993G>C p.G1998A Missense 35/82 - 1
7-21730453-T-C c.5995T>C p.Y1999H Missense 35/82 - 1
7-21730457-C-A c.5999C>A p.A2000D Missense 35/82 - 1
7-21730458-T-A c.6000T>A p.A2000= Synonymous 35/82 - 1
7-21730459-G-A c.6001G>A p.G2001S Missense 35/82 - 1
7-21730462-C-T c.6004C>T p.R2002* Nonsense 35/82 - 4
7-21730468-G-A c.6010G>A p.E2004K Missense 35/82 - 6
7-21730474-C-T c.6016C>T p.P2006S Missense 35/82 - 1
7-21730475-C-A c.6017C>A p.P2006Q Missense 35/82 - 1
7-21730475-C-T c.6017C>T p.P2006L Missense 35/82 - 1
7-21730484-T-C c.6026T>C p.L2009P Missense 35/82 - 2
7-21730485-C-A c.6027C>A p.L2009= Synonymous 35/82 - 2
7-21730485-C-G c.6027C>G p.L2009= Synonymous 35/82 - 2
7-21730485-C-T c.6027C>T p.L2009= Synonymous 35/82 - 2
7-21730489-G-A c.6031G>A p.A2011T Missense 35/82 - 1
7-21730491-T-A c.6033T>A p.A2011= Synonymous 35/82 - 1
7-21730491-T-C c.6033T>C p.A2011= Synonymous 35/82 - 1
7-21730491-T-G c.6033T>G p.A2011= Synonymous 35/82 - 1
7-21730498-AG-CA c.6040_6041delinsCA p.R2014Q Missense 35/82 - 1
7-21730500-G-T c.6041+1G>T - IntronicSNV - 35/81 1
7-21730575-G-A c.6041+76G>A - IntronicSNV - 35/81 1
7-21730647-T-G c.6041+148T>G - IntronicSNV - 35/81 2
7-21733475-G-A c.6041+2976G>A - IntronicSNV - 35/81 1
7-21733799-T-A c.6041+3300T>A - IntronicSNV - 35/81 1
7-21737573-C-G c.6042-120C>G - IntronicSNV - 35/81 1
7-21737613-C-G c.6042-80C>G - IntronicSNV - 35/81 1
7-21737613-C-T c.6042-80C>T - IntronicSNV - 35/81 1
7-21737646-T-C c.6042-47T>C - IntronicSNV - 35/81 2
7-21737700-G-A c.6049G>A p.A2017T Missense 36/82 - 1
7-21737709-G-A c.6058G>A p.A2020T Missense 36/82 - 1
7-21737710-C-T c.6059C>T p.A2020V Missense 36/82 - 1
7-21737712-C-T c.6061C>T p.P2021S Missense 36/82 - 2
7-21737718-A-G c.6067A>G p.I2023V Missense 36/82 - 3
7-21737729-C-A c.6078C>A p.I2026= Synonymous 36/82 - 1
7-21737729-C-T c.6078C>T p.I2026= Synonymous 36/82 - 2
7-21737733-G-A c.6082G>A p.E2028K Missense 36/82 - 1
7-21737742-T-C c.6091T>C p.L2031= Synonymous 36/82 - 1
7-21737744-A-G c.6093A>G p.L2031= Synonymous 36/82 - 1
7-21737744-A-C c.6093A>C p.L2031F Missense 36/82 - 1
7-21737744-A-T c.6093A>T p.L2031F Missense 36/82 - 1
7-21737748-G-A c.6097G>A p.A2033T Missense 36/82 - 1
7-21737752-A-G c.6101A>G p.E2034G Missense 36/82 - 1
7-21737753-A-G c.6102A>G p.E2034= Synonymous 36/82 - 1
7-21737761-T-A c.6110T>A p.V2037E Missense 36/82 - 2
7-21737761-T-C c.6110T>C p.V2037A Missense 36/82 - 1
7-21737763-G-C c.6112G>C p.D2038H Missense 36/82 - 1
7-21737764-A-G c.6113A>G p.D2038G Missense 36/82 - 3
7-21737767-C-G c.6116C>G p.A2039G Missense 36/82 - 1
7-21737767-C-T c.6116C>T p.A2039V Missense 36/82 - 2
7-21737768-G-A c.6117G>A p.A2039= Synonymous 36/82 - 7
7-21737768-G-C c.6117G>C p.A2039= Synonymous 36/82 - 1
7-21737768-G-T c.6117G>T p.A2039= Synonymous 36/82 - 1
7-21737769-C-T c.6118C>T p.R2040C Missense 36/82 - 10
7-21737770-G-A c.6119G>A p.R2040H Missense 36/82 - 5
7-21737775-T-G c.6124T>G p.L2042V Missense 36/82 - 1
7-21737778-G-T c.6127G>T p.A2043S Missense 36/82 - 2
7-21737781-C-T c.6130C>T p.R2044* Nonsense 36/82 - 1
7-21737782-G-A c.6131G>A p.R2044Q Missense 36/82 - 3
7-21737785-A-G c.6134A>G p.K2045R Missense 36/82 - 2
7-21737785-A-T c.6134A>T p.K2045M Missense 36/82 - 1
7-21737786-G-C c.6135G>C p.K2045N Missense 36/82 - 2
7-21737789-C-T c.6138C>T p.F2046= Synonymous 36/82 - 3
7-21737794-C-G c.6143C>G p.T2048R Missense 36/82 - 3
7-21737794-C-T c.6143C>T p.T2048M Missense 36/82 - 2
7-21737795-G-A c.6144G>A p.T2048= Synonymous 36/82 - 2
7-21737795-G-C c.6144G>C p.T2048= Synonymous 36/82 - 1
7-21737795-G-T c.6144G>T p.T2048= Synonymous 36/82 - 1
7-21737796-T-A c.6145T>A p.L2049M Missense 36/82 - 1
7-21737801-C-T c.6150C>T p.Y2050= Synonymous 36/82 - 1
7-21737803-C-A c.6152C>A p.T2051K Missense 36/82 - 1
7-21737805-C-G c.6154C>G p.L2052V Missense 36/82 - 1
7-21737805-C-T c.6154C>T p.L2052F Missense 36/82 - 1
7-21737808-T-C c.6157T>C p.C2053R Missense 36/82 - 2
7-21737810-C-T c.6159C>T p.C2053= Synonymous 36/82 - 2
7-21737812-A-T c.6161A>T p.K2054M Missense 36/82 - 1
7-21737814-G-A c.6163G>A p.E2055K Missense 36/82 - 2
7-21737817-C-A c.6166C>A p.L2056I Missense 36/82 - 1
7-21737821-T-C c.6170T>C p.L2057P Missense 36/82 - 1
7-21737824-C-T c.6173C>T p.S2058F Missense 36/82 - 3
7-21737830-A-G c.6179A>G p.Q2060R Missense 36/82 - 1
7-21737973-G-C c.6180+142G>C - IntronicSNV - 36/81 2
7-21742151-C-T c.6181-177C>T - IntronicSNV - 36/81 1
7-21742328-G-A c.6181G>A p.D2061N Missense 37/82 - 1
7-21742331-C-A c.6184C>A p.H2062N Missense 37/82 - 1
7-21742332-A-G c.6185A>G p.H2062R Missense 37/82 - 1
7-21742336-C-T c.6189C>T p.Y2063= Synonymous 37/82 - 1
7-21742337-G-A c.6190G>A p.D2064N Missense 37/82 - 3
7-21742341-G-A c.6194G>A p.W2065* Nonsense 37/82 - 1
7-21742341-G-T c.6194G>T p.W2065L Missense 37/82 - 2
7-21742342-G-C c.6195G>C p.W2065C Missense 37/82 - 1
7-21742342-G-T c.6195G>T p.W2065C Missense 37/82 - 3
7-21742343-G-A c.6196G>A p.G2066R Missense 37/82 - 3
7-21742343-G-C c.6196G>C p.G2066R Missense 37/82 - 1
7-21742346-C-A c.6199C>A p.L2067I Missense 37/82 - 2
7-21742349-C-T c.6202C>T p.R2068C Missense 37/82 - 6
7-21742350-G-A c.6203G>A p.R2068H Missense 37/82 - 5
7-21742350-G-T c.6203G>T p.R2068L Missense 37/82 - 1
7-21742352-G-C c.6205G>C p.A2069P Missense 37/82 - 1
7-21742355-A-T c.6208A>T p.I2070F Missense 37/82 - 2
7-21742356-T-C c.6209T>C p.I2070T Missense 37/82 - 3
7-21742362-C-A c.6215C>A p.S2072Y Missense 37/82 - 1
7-21742362-C-T c.6215C>T p.S2072F Missense 37/82 - 3
7-21742367-T-C c.6220T>C p.L2074= Synonymous 37/82 - 1
7-21742369-G-A c.6222G>A p.L2074= Synonymous 37/82 - 1
7-21742373-G-C c.6226G>C p.V2076L Missense 37/82 - 1
7-21742373-G-T c.6226G>T p.V2076L Missense 37/82 - 1
7-21742379-G-A c.6232G>A p.G2078R Missense 37/82 - 2
7-21742379-G-C c.6232G>C p.G2078R Missense 37/82 - 1
7-21742381-A-C c.6234A>C p.G2078= Synonymous 37/82 - 2
7-21742381-A-G c.6234A>G p.G2078= Synonymous 37/82 - 2
7-21742381-A-T c.6234A>T p.G2078= Synonymous 37/82 - 2
7-21742383-C-T c.6236C>T p.S2079F Missense 37/82 - 6
7-21742385-C-T c.6238C>T p.L2080= Synonymous 37/82 - 1
7-21742391-C-T c.6244C>T p.R2082* Nonsense 37/82 - 13
7-21742392-G-A c.6245G>A p.R2082Q Missense 37/82 - 4
7-21742392-G-C c.6245G>C p.R2082P Missense 37/82 - 3
7-21742394-G-A c.6247G>A p.G2083R Missense 37/82 - 1
7-21742394-G-C c.6247G>C p.G2083R Missense 37/82 - 1
7-21742397-G-C c.6250G>C p.D2084H Missense 37/82 - 1
7-21742399-T-A c.6252T>A p.D2084E Missense 37/82 - 1
7-21742402-A-G c.6255A>G p.K2085= Synonymous 37/82 - 1
7-21742411-C-A c.6264C>A p.P2088= Synonymous 37/82 - 1
7-21742411-C-G c.6264C>G p.P2088= Synonymous 37/82 - 1
7-21742411-C-T c.6264C>T p.P2088= Synonymous 37/82 - 2
7-21742412-G-A c.6265G>A p.E2089K Missense 37/82 - 3
7-21742417-T-G c.6270T>G p.D2090E Missense 37/82 - 1
7-21742421-G-T c.6273+1G>T - IntronicSNV - 37/81 1
7-21742422-T-C c.6273+2T>C - IntronicSNV - 37/81 1
7-21742484-A-G c.6273+64A>G - IntronicSNV - 37/81 1
7-21742974-A-G c.6273+554A>G - IntronicSNV - 37/81 1
7-21744037-T-TG c.6274-14dup - IntronicInsertion - 37/81 1
7-21744039-T-G c.6274-13T>G - IntronicSNV - 37/81 7
7-21744052-G-T c.6274G>T p.V2092L Missense 38/82 - 1
7-21744052-GTA-ATG c.6274_6276delinsATG p.V2092M Missense 38/82 - 1
7-21744058-A-G c.6280A>G p.M2094V Missense 38/82 - 1
7-21744060-G-C c.6282G>C p.M2094I Missense 38/82 - 1
7-21744062-G-C c.6284G>C p.R2095T Missense 38/82 - 1
7-21744062-G-T c.6284G>T p.R2095I Missense 38/82 - 1
7-21744061-A-C c.6283A>C p.R2095= Synonymous 38/82 - 1
7-21744063-A-G c.6285A>G p.R2095= Synonymous 38/82 - 1
7-21744066-A-C c.6288A>C p.A2096= Synonymous 38/82 - 1
7-21744066-A-G c.6288A>G p.A2096= Synonymous 38/82 - 1
7-21744066-A-T c.6288A>T p.A2096= Synonymous 38/82 - 1
7-21744068-T-C c.6290T>C p.L2097S Missense 38/82 - 3
7-21744072-G-A c.6294G>A p.R2098= Synonymous 38/82 - 1
7-21744074-A-T c.6296A>T p.D2099V Missense 38/82 - 2
7-21744077-T-A c.6299T>A p.F2100Y Missense 38/82 - 1
7-21744077-T-G c.6299T>G p.F2100C Missense 38/82 - 1
7-21744078-C-G c.6300C>G p.F2100L Missense 38/82 - 1
7-21744080-A-G c.6302A>G p.N2101S Missense 38/82 - 2
7-21744080-A-T c.6302A>T p.N2101I Missense 38/82 - 1
7-21744081-T-A c.6303T>A p.N2101K Missense 38/82 - 1
7-21744081-T-C c.6303T>C p.N2101= Synonymous 38/82 - 2
7-21744087-C-A c.6309C>A p.P2103= Synonymous 38/82 - 1
7-21744087-C-G c.6309C>G p.P2103= Synonymous 38/82 - 1
7-21744087-C-T c.6309C>T p.P2103= Synonymous 38/82 - 1
7-21744090-A-C c.6312A>C p.K2104N Missense 38/82 - 1
7-21744092-T-G c.6314T>G p.I2105R Missense 38/82 - 1
7-21744094-G-A c.6316G>A p.V2106M Missense 38/82 - 1
7-21744094-GTG-ATC c.6316_6318delinsATC p.V2106I Missense 38/82 - 1
7-21744098-C-T c.6320C>T p.T2107I Missense 38/82 - 1
7-21744103-G-A c.6325G>A p.D2109N Missense 38/82 - 2
7-21744104-A-G c.6326A>G p.D2109G Missense 38/82 - 1
7-21744106-A-T c.6328A>T p.I2110F Missense 38/82 - 1
7-21744112-G-A c.6334G>A p.V2112M Missense 38/82 - 1
7-21744113-T-C c.6335T>C p.V2112A Missense 38/82 - 1
7-21744121-G-A c.6343G>A p.G2115S Missense 38/82 - 1
7-21744122-G-A c.6344G>A p.G2115D Missense 38/82 - 1
7-21744122-G-C c.6344G>C p.G2115A Missense 38/82 - 1
7-21744126-G-A c.6348G>A p.L2116= Synonymous 38/82 - 1
7-21744127-G-A c.6349G>A p.V2117I Missense 38/82 - 1
7-21744129-C-T c.6351C>T p.V2117= Synonymous 38/82 - 2
7-21744130-G-A c.6352G>A p.G2118S Missense 38/82 - 1
7-21744132-T-A c.6354T>A p.G2118= Synonymous 38/82 - 2
7-21744132-T-C c.6354T>C p.G2118= Synonymous 38/82 - 2
7-21744132-T-G c.6354T>G p.G2118= Synonymous 38/82 - 2
7-21744133-G-A c.6355G>A p.D2119N Missense 38/82 - 1
7-21744136-C-T c.6358C>T p.L2120= Synonymous 38/82 - 2
7-21744138-G-A c.6360G>A p.L2120= Synonymous 38/82 - 1
7-21744138-G-C c.6360G>C p.L2120= Synonymous 38/82 - 1
7-21744138-G-T c.6360G>T p.L2120= Synonymous 38/82 - 1
7-21744143-C-T c.6365C>T p.P2122L Missense 38/82 - 2
7-21744147-C-G c.6369C>G p.A2123= Synonymous 38/82 - 1
7-21744148-C-T c.6370C>T p.L2124= Synonymous 38/82 - 1
7-21744150-G-A c.6372G>A p.L2124= Synonymous 38/82 - 1
7-21744150-G-C c.6372G>C p.L2124= Synonymous 38/82 - 1
7-21744150-G-T c.6372G>T p.L2124= Synonymous 38/82 - 1
7-21744151-G-A c.6373G>A p.D2125N Missense 38/82 - 1
7-21744152-A-G c.6374A>G p.D2125G Missense 38/82 - 1
7-21744153-T-C c.6375T>C p.D2125= Synonymous 38/82 - 1
7-21744156-G-A c.6378G>A p.V2126= Synonymous 38/82 - 1
7-21744156-G-C c.6378G>C p.V2126= Synonymous 38/82 - 2
7-21744156-G-T c.6378G>T p.V2126= Synonymous 38/82 - 1
7-21744160-C-T c.6382C>T p.R2128W Missense 38/82 - 4
7-21744161-G-A c.6383G>A p.R2128Q Missense 38/82 - 2
7-21744164-G-A c.6386G>A p.R2129K Missense 38/82 - 1
7-21744164-G-T c.6386G>T p.R2129M Missense 38/82 - 1
7-21744163-A-C c.6385A>C p.R2129= Synonymous 38/82 - 1
7-21744165-G-A c.6387G>A p.R2129= Synonymous 38/82 - 1
7-21744166-A-G c.6388A>G p.R2130G Missense 38/82 - 1
7-21744171-G-A c.6393G>A p.K2131= Synonymous 38/82 - 1
7-21744172-C-G c.6394C>G p.L2132V Missense 38/82 - 2
7-21744172-C-T c.6394C>T p.L2132= Synonymous 38/82 - 1
7-21744179-T-G c.6401T>G p.F2134C Missense 38/82 - 1
7-21744181-G-C c.6403G>C p.E2135Q Missense 38/82 - 6
7-21744184-C-T c.6406C>T p.Q2136* Nonsense 38/82 - 1
7-21744188-T-C c.6410T>C p.M2137T Missense 38/82 - 1
7-21744190-G-A c.6412G>A p.V2138I Missense 38/82 - 1
7-21744192-C-T c.6414C>T p.V2138= Synonymous 38/82 - 1
7-21744193-A-G c.6415A>G p.R2139G Missense 38/82 - 1
7-21744194-G-A c.6416G>A p.R2139K Missense 38/82 - 3
7-21744200-C-G c.6422C>G p.S2141C Missense 38/82 - 1
7-21744202-A-C c.6424A>C p.T2142P Missense 38/82 - 1
7-21744205-C-G c.6427C>G p.L2143V Missense 38/82 - 1
7-21744205-C-T c.6427C>T p.L2143= Synonymous 38/82 - 1
7-21744207-G-A c.6429G>A p.L2143= Synonymous 38/82 - 1
7-21744207-G-T c.6429G>T p.L2143= Synonymous 38/82 - 1
7-21744208-G-C c.6430G>C p.E2144Q Missense 38/82 - 1
7-21744210-G-A c.6432G>A p.E2144= Synonymous 38/82 - 2
7-21744214-C-G c.6436C>G p.R2146G Missense 38/82 - 1
7-21744215-G-A c.6437G>A p.R2146H Missense 38/82 - 5
7-21744216-C-A c.6438C>A p.R2146= Synonymous 38/82 - 1
7-21744216-C-G c.6438C>G p.R2146= Synonymous 38/82 - 1
7-21744216-C-T c.6438C>T p.R2146= Synonymous 38/82 - 1
7-21744219-G-C c.6441G>C p.L2147= Synonymous 38/82 - 1
7-21744221-A-G c.6443A>G p.Q2148R Missense 38/82 - 1
7-21744223-C-T c.6445C>T p.P2149S Missense 38/82 - 1
7-21744224-C-T c.6446C>T p.P2149L Missense 38/82 - 1
7-21744226-G-A c.6448G>A p.E2150K Missense 38/82 - 2
7-21744226-G-C c.6448G>C p.E2150Q Missense 38/82 - 3
7-21744226-G-T c.6448G>T p.E2150* Nonsense 38/82 - 1
7-21744235-T-C c.6457T>C p.F2153L Missense 38/82 - 1
7-21744237-C-T c.6459C>T p.F2153= Synonymous 38/82 - 2
7-21744318-TA-T c.6468+75del - IntronicDeletion - 38/81 1
7-21745061-A-G c.6469-17A>G - IntronicSNV - 38/81 5
7-21745087-C-T c.6478C>T p.L2160F Missense 39/82 - 2
7-21745088-T-G c.6479T>G p.L2160R Missense 39/82 - 2
7-21745089-T-A c.6480T>A p.L2160= Synonymous 39/82 - 1
7-21745089-T-C c.6480T>C p.L2160= Synonymous 39/82 - 1
7-21745089-T-G c.6480T>G p.L2160= Synonymous 39/82 - 1
7-21745090-G-C c.6481G>C p.E2161Q Missense 39/82 - 2
7-21745091-A-C c.6482A>C p.E2161A Missense 39/82 - 1
7-21745096-C-G c.6487C>G p.L2163V Missense 39/82 - 1
7-21745101-G-A c.6492G>A p.L2164= Synonymous 39/82 - 1
7-21745101-G-C c.6492G>C p.L2164F Missense 39/82 - 1
7-21745103-C-G c.6494C>G p.A2165G Missense 39/82 - 1
7-21745103-C-T c.6494C>T p.A2165V Missense 39/82 - 1
7-21745105-G-C c.6496G>C p.V2166L Missense 39/82 - 1
7-21745108-C-T c.6499C>T p.R2167W Missense 39/82 - 1
7-21745109-G-A c.6500G>A p.R2167Q Missense 39/82 - 1
7-21745109-G-T c.6500G>T p.R2167L Missense 39/82 - 2
7-21745110-G-A c.6501G>A p.R2167= Synonymous 39/82 - 1
7-21745115-C-A c.6506C>A p.S2169* Nonsense 39/82 - 1
7-21745115-C-T c.6506C>T p.S2169L Missense 39/82 - 1
7-21745117-G-A c.6508G>A p.V2170I Missense 39/82 - 1
7-21745123-G-C c.6514G>C p.V2172L Missense 39/82 - 1
7-21745124-T-A c.6515T>A p.V2172E Missense 39/82 - 1
7-21745129-G-A c.6520G>A p.G2174R Missense 39/82 - 3
7-21745130-G-T c.6521G>T p.G2174V Missense 39/82 - 3
7-21745133-A-G c.6524A>G p.N2175S Missense 39/82 - 1
7-21745134-T-A c.6525T>A p.N2175K Missense 39/82 - 1
7-21745135-G-T c.6526G>T p.A2176S Missense 39/82 - 1
7-21745136-C-A c.6527C>A p.A2176E Missense 39/82 - 1
7-21745136-C-T c.6527C>T p.A2176V Missense 39/82 - 1
7-21745139-G-A c.6530G>A p.G2177D Missense 39/82 - 1
7-21745143-A-C c.6534A>C p.T2178= Synonymous 39/82 - 1
7-21745143-A-G c.6534A>G p.T2178= Synonymous 39/82 - 1
7-21745143-A-T c.6534A>T p.T2178= Synonymous 39/82 - 1
7-21745144-G-A c.6535G>A p.G2179R Missense 39/82 - 2
7-21745144-G-C c.6535G>C p.G2179R Missense 39/82 - 4
7-21745149-G-A c.6540G>A p.K2180= Synonymous 39/82 - 1
7-21745149-G-C c.6540G>C p.K2180N Missense 39/82 - 1
7-21745149-G-T c.6540G>T p.K2180N Missense 39/82 - 2
7-21745154-A-G c.6545A>G p.K2182R Missense 39/82 - 1
7-21745347-G-C c.6546+192G>C - IntronicSNV - 39/81 1
7-21747316-G-GA c.6547dup p.I2183Nfs*11 SpliceAcceptorInsertion 40/82 - 1
7-21747323-A-C c.6553A>C p.R2185= Synonymous 40/82 - 1
7-21747325-A-G c.6555A>G p.R2185= Synonymous 40/82 - 1
7-21747329-C-T c.6559C>T p.L2187= Synonymous 40/82 - 1
7-21747331-G-A c.6561G>A p.L2187= Synonymous 40/82 - 2
7-21747331-G-C c.6561G>C p.L2187= Synonymous 40/82 - 1
7-21747331-G-T c.6561G>T p.L2187= Synonymous 40/82 - 1
7-21747332-A-G c.6562A>G p.N2188D Missense 40/82 - 1
7-21747335-C-T c.6565C>T p.R2189* Nonsense 40/82 - 5
7-21747336-G-A c.6566G>A p.R2189Q Missense 40/82 - 6
7-21747338-A-G c.6568A>G p.T2190A Missense 40/82 - 1
7-21747339-C-A c.6569C>A p.T2190K Missense 40/82 - 1
7-21747340-A-C c.6570A>C p.T2190= Synonymous 40/82 - 1
7-21747340-A-G c.6570A>G p.T2190= Synonymous 40/82 - 1
7-21747340-A-T c.6570A>T p.T2190= Synonymous 40/82 - 1
7-21747345-T-C c.6575T>C p.V2192A Missense 40/82 - 1
7-21747352-G-A c.6582G>A p.M2194I Missense 40/82 - 3
7-21747357-A-T c.6587A>T p.Q2196L Missense 40/82 - 1
7-21747362-C-T c.6592C>T p.P2198S Missense 40/82 - 4
7-21747363-C-T c.6593C>T p.P2198L Missense 40/82 - 3
7-21747364-G-A c.6594G>A p.P2198= Synonymous 40/82 - 3
7-21747364-G-T c.6594G>T p.P2198= Synonymous 40/82 - 1
7-21747365-G-A c.6595G>A p.V2199I Missense 40/82 - 1
7-21747367-T-A c.6597T>A p.V2199= Synonymous 40/82 - 1
7-21747367-T-C c.6597T>C p.V2199= Synonymous 40/82 - 1
7-21747367-T-G c.6597T>G p.V2199= Synonymous 40/82 - 1
7-21747374-G-A c.6604G>A p.D2202N Missense 40/82 - 2
7-21747374-G-T c.6604G>T p.D2202Y Missense 40/82 - 1
7-21747378-T-A c.6608T>A p.L2203* Nonsense 40/82 - 1
7-21747378-T-G c.6608T>G p.L2203* Nonsense 40/82 - 1
7-21747381-A-G c.6611A>G p.N2204S Missense 40/82 - 1
7-21747381-A-T c.6611A>T p.N2204I Missense 40/82 - 1
7-21747382-C-A c.6612C>A p.N2204K Missense 40/82 - 3
7-21747382-C-G c.6612C>G p.N2204K Missense 40/82 - 1
7-21747383-C-G c.6613C>G p.P2205A Missense 40/82 - 1
7-21747383-C-T c.6613C>T p.P2205S Missense 40/82 - 1
7-21747385-T-A c.6615T>A p.P2205= Synonymous 40/82 - 1
7-21747385-T-C c.6615T>C p.P2205= Synonymous 40/82 - 1
7-21747385-T-G c.6615T>G p.P2205= Synonymous 40/82 - 1
7-21747388-A-C c.6618A>C p.K2206N Missense 40/82 - 3
7-21747398-A-G c.6628A>G p.T2210A Missense 40/82 - 1
7-21747399-C-T c.6629C>T p.T2210I Missense 40/82 - 1
7-21747407-C-G c.6637C>G p.L2213V Missense 40/82 - 2
7-21747409-CTT-C c.6641_6642del p.F2214Wfs*35 Frameshift 40/82 - 1
7-21747409-CT-C c.6642del p.F2214Lfs*22 Frameshift 40/82 - 1
7-21747413-G-A c.6643G>A p.G2215S Missense 40/82 - 2
7-21747414-G-T c.6644G>T p.G2215V Missense 40/82 - 1
7-21747419-A-G c.6649A>G p.I2217V Missense 40/82 - 1
7-21747422-C-T c.6652C>T p.H2218Y Missense 40/82 - 1
7-21747423-A-G c.6653A>G p.H2218R Missense 40/82 - 1
7-21747425-C-T c.6655C>T p.H2219Y Missense 40/82 - 3
7-21747426-A-T c.6656A>T p.H2219L Missense 40/82 - 1
7-21747432-C-T c.6662C>T p.T2221I Missense 40/82 - 1
7-21747434-C-G c.6664C>G p.R2222G Missense 40/82 - 1
7-21747434-C-T c.6664C>T p.R2222* Nonsense 40/82 - 2
7-21747435-G-A c.6665G>A p.R2222Q Missense 40/82 - 1
7-21747435-G-C c.6665G>C p.R2222P Missense 40/82 - 3
7-21747436-A-T c.6666A>T p.R2222= Synonymous 40/82 - 1
7-21747438-A-G c.6668A>G p.E2223G Missense 40/82 - 1
7-21747441-G-A c.6671G>A p.W2224* Nonsense 40/82 - 1
7-21747441-G-T c.6671G>T p.W2224L Missense 40/82 - 1
7-21747442-G-A c.6672G>A p.W2224* Nonsense 40/82 - 1
7-21747446-G-T c.6676G>T p.D2226Y Missense 40/82 - 1
7-21747448-T-C c.6678T>C p.D2226= Synonymous 40/82 - 2
7-21747450-G-C c.6680G>C p.G2227A Missense 40/82 - 1
7-21747452-A-C c.6682A>C p.K2228Q Missense 40/82 - 1
7-21747466-C-G c.6683+13C>G - IntronicSNV - 40/81 1
7-21747579-G-A c.6683+126G>A - IntronicSNV - 40/81 1
7-21747630-A-G c.6683+177A>G - IntronicSNV - 40/81 1
7-21747666-C-G c.6683+213C>G - IntronicSNV - 40/81 1
7-21747666-C-T c.6683+213C>T - IntronicSNV - 40/81 1
7-21747684-C-G c.6683+231C>G - IntronicSNV - 40/81 1
7-21747684-C-T c.6683+231C>T - IntronicSNV - 40/81 1
7-21749341-G-C c.6684-830G>C - IntronicSNV - 40/81 1
7-21749502-T-C c.6684-669T>C - IntronicSNV - 40/81 2
7-21750060-G-A c.6684-111G>A - IntronicSNV - 40/81 1
7-21750060-G-C c.6684-111G>C - IntronicSNV - 40/81 1
7-21750060-G-T c.6684-111G>T - IntronicSNV - 40/81 1
7-21750186-T-A c.6699T>A p.Y2233* Nonsense 41/82 - 1
7-21750186-T-G c.6699T>G p.Y2233* Nonsense 41/82 - 1
7-21750193-G-T c.6706G>T p.G2236C Missense 41/82 - 1
7-21750194-G-A c.6707G>A p.G2236D Missense 41/82 - 1
7-21750196-C-A c.6709C>A p.L2237I Missense 41/82 - 1
7-21750196-C-G c.6709C>G p.L2237V Missense 41/82 - 1
7-21750197-T-A c.6710T>A p.L2237H Missense 41/82 - 3
7-21750197-T-C c.6710T>C p.L2237P Missense 41/82 - 1
7-21750198-C-A c.6711C>A p.L2237= Synonymous 41/82 - 1
7-21750198-C-G c.6711C>G p.L2237= Synonymous 41/82 - 1
7-21750198-C-T c.6711C>T p.L2237= Synonymous 41/82 - 2
7-21750199-T-C c.6712T>C p.F2238L Missense 41/82 - 1
7-21750201-C-A c.6714C>A p.F2238L Missense 41/82 - 1
7-21750201-C-G c.6714C>G p.F2238L Missense 41/82 - 2
7-21750203-C-T c.6716C>T p.S2239L Missense 41/82 - 2
7-21750204-A-C c.6717A>C p.S2239= Synonymous 41/82 - 2
7-21750204-A-G c.6717A>G p.S2239= Synonymous 41/82 - 2
7-21750204-A-T c.6717A>T p.S2239= Synonymous 41/82 - 2
7-21750206-C-A c.6719C>A p.S2240Y Missense 41/82 - 1
7-21750211-C-G c.6724C>G p.L2242V Missense 41/82 - 1
7-21750213-A-C c.6726A>C p.L2242= Synonymous 41/82 - 1
7-21750213-A-G c.6726A>G p.L2242= Synonymous 41/82 - 1
7-21750214-C-G c.6727C>G p.R2243G Missense 41/82 - 2
7-21750214-C-T c.6727C>T p.R2243* Nonsense 41/82 - 12
7-21750215-G-A c.6728G>A p.R2243Q Missense 41/82 - 5
7-21750215-G-C c.6728G>C p.R2243P Missense 41/82 - 1
7-21750215-G-T c.6728G>T p.R2243L Missense 41/82 - 1
7-21750216-A-T c.6729A>T p.R2243= Synonymous 41/82 - 1
7-21750217-G-C c.6730G>C p.E2244Q Missense 41/82 - 1
7-21750223-G-A c.6736G>A p.A2246T Missense 41/82 - 1
7-21750224-C-A c.6737C>A p.A2246E Missense 41/82 - 1
7-21750226-A-C c.6739A>C p.N2247H Missense 41/82 - 3
7-21750229-C-A c.6742C>A p.L2248I Missense 41/82 - 1
7-21750229-C-G c.6742C>G p.L2248V Missense 41/82 - 1
7-21750234-G-C c.6747G>C p.K2249N Missense 41/82 - 1
7-21750235-C-T c.6748C>T p.H2250Y Missense 41/82 - 3
7-21750238-G-A c.6751G>A p.D2251N Missense 41/82 - 1
7-21750242-G-A c.6755G>A p.G2252E Missense 41/82 - 1
7-21750242-GA-AC c.6755_6756delinsAC p.G2252D Missense 41/82 - 1
7-21750244-C-T c.6757C>T p.P2253S Missense 41/82 - 1
7-21750247-A-C c.6760A>C p.K2254Q Missense 41/82 - 1
7-21750245-C-CA c.6762dup p.W2255Mfs*9 Frameshift 41/82 - 1
7-21750250-T-A c.6763T>A p.W2255R Missense 41/82 - 1
7-21750250-T-C c.6763T>C p.W2255R Missense 41/82 - 1
7-21750253-A-G c.6766A>G p.I2256V Missense 41/82 - 1
7-21750262-G-A c.6775G>A p.D2259N Missense 41/82 - 1
7-21750263-A-T c.6776A>T p.D2259V Missense 41/82 - 1
7-21750265-G-A c.6778G>A p.G2260S Missense 41/82 - 2
7-21750267-C-A c.6780C>A p.G2260= Synonymous 41/82 - 2
7-21750267-C-G c.6780C>G p.G2260= Synonymous 41/82 - 2
7-21750267-C-T c.6780C>T p.G2260= Synonymous 41/82 - 2
7-21750272-T-C c.6785T>C p.I2262T Missense 41/82 - 4
7-21750280-A-C c.6793A>C p.M2265L Missense 41/82 - 1
7-21750280-A-T c.6793A>T p.M2265L Missense 41/82 - 1
7-21750285-G-C c.6798G>C p.W2266C Missense 41/82 - 2
7-21750285-G-T c.6798G>T p.W2266C Missense 41/82 - 4
7-21750289-G-A c.6802G>A p.E2268K Missense 41/82 - 1
7-21750289-G-T c.6802G>T p.E2268* Nonsense 41/82 - 1
7-21750301-A-G c.6814A>G p.T2272A Missense 41/82 - 1
7-21750306-A-C c.6819A>C p.V2273= Synonymous 41/82 - 1
7-21750306-A-G c.6819A>G p.V2273= Synonymous 41/82 - 1
7-21750306-A-T c.6819A>T p.V2273= Synonymous 41/82 - 1
7-21750310-G-A c.6823G>A p.D2275N Missense 41/82 - 1
7-21750313-G-C c.6826G>C p.D2276H Missense 41/82 - 1
7-21751330-G-A c.6835G>A p.V2279M Missense 42/82 - 1
7-21751331-T-A c.6836T>A p.V2279E Missense 42/82 - 2
7-21751337-C-G c.6842C>G p.T2281S Missense 42/82 - 1
7-21751337-C-T c.6842C>T p.T2281I Missense 42/82 - 1
7-21751342-CG-C c.6847del p.A2283Pfs*12 Frameshift 42/82 - 1
7-21751342-G-A c.6847G>A p.A2283T Missense 42/82 - 1
7-21751351-G-A c.6856G>A p.E2286K Missense 42/82 - 1
7-21751352-A-G c.6857A>G p.E2286G Missense 42/82 - 1
7-21751354-C-T c.6859C>T p.R2287C Missense 42/82 - 4
7-21751355-G-A c.6860G>A p.R2287H Missense 42/82 - 1
7-21751358-T-C c.6863T>C p.I2288T Missense 42/82 - 1
7-21751365-C-T c.6870C>T p.L2290= Synonymous 42/82 - 2
7-21751366-A-C c.6871A>C p.T2291P Missense 42/82 - 1
7-21751366-A-G c.6871A>G p.T2291A Missense 42/82 - 2
7-21751369-C-T c.6874C>T p.P2292S Missense 42/82 - 2
7-21751370-C-T c.6875C>T p.P2292L Missense 42/82 - 1
7-21751371-CT-C c.6878del p.F2293Sfs*2 Frameshift 42/82 - 1
7-21751375-A-G c.6880A>G p.M2294V Missense 42/82 - 2
7-21751389-T-A c.6894T>A p.F2298L Missense 42/82 - 1
7-21751390-G-C c.6895G>C p.E2299Q Missense 42/82 - 3
7-21751393-A-G c.6898A>G p.I2300V Missense 42/82 - 1
7-21751397-A-G c.6902A>G p.H2301R Missense 42/82 - 1
7-21751400-A-C c.6905A>C p.H2302P Missense 42/82 - 2
7-21751402-T-C c.6907T>C p.L2303= Synonymous 42/82 - 2
7-21751404-A-G c.6909A>G p.L2303= Synonymous 42/82 - 2
7-21751405-A-G c.6910A>G p.R2304G Missense 42/82 - 1
7-21751411-G-A c.6916G>A p.A2306T Missense 42/82 - 1
7-21751415-CC-AG c.6920_6921delinsAG p.T2307K Missense 42/82 - 1
7-21751418-C-T c.6923C>T p.P2308L Missense 42/82 - 1
7-21751419-G-A c.6924G>A p.P2308= Synonymous 42/82 - 1
7-21751419-G-C c.6924G>C p.P2308= Synonymous 42/82 - 1
7-21751419-G-T c.6924G>T p.P2308= Synonymous 42/82 - 2
7-21751424-C-A c.6929C>A p.T2310N Missense 42/82 - 1
7-21751424-CT-TG c.6929_6930delinsTG p.T2310M Missense 42/82 - 1
7-21751429-T-C c.6934T>C p.S2312P Missense 42/82 - 1
7-21751429-TC-CG c.6934_6935delinsCG p.S2312R Missense 42/82 - 1
7-21751430-C-T c.6935C>T p.S2312F Missense 42/82 - 4
7-21751431-C-T c.6936C>T p.S2312= Synonymous 42/82 - 1
7-21751432-A-G c.6937A>G p.R2313G Missense 42/82 - 1
7-21751436-C-G c.6941C>G p.A2314G Missense 42/82 - 1
7-21751436-C-T c.6941C>T p.A2314V Missense 42/82 - 1
7-21751444-C-T c.6949C>T p.L2317= Synonymous 42/82 - 1
7-21751446-G-A c.6951G>A p.L2317= Synonymous 42/82 - 1
7-21751456-C-T c.6961C>T p.P2321S Missense 42/82 - 1
7-21751457-C-T c.6962C>T p.P2321L Missense 42/82 - 1
7-21751458-CA-C c.6963del p.Q2322Kfs*13 Frameshift 42/82 - 1
7-21751460-A-C c.6965A>C p.Q2322P Missense 42/82 - 1
7-21751462-G-A c.6967G>A p.D2323N Missense 42/82 - 1
7-21751462-G-T c.6967G>T p.D2323Y Missense 42/82 - 1
7-21751467-G-A c.6972G>A p.L2324= Synonymous 42/82 - 1
7-21751468-G-A c.6973G>A p.G2325S Missense 42/82 - 2
7-21751477-C-A c.6982C>A p.P2328T Missense 42/82 - 1
7-21751478-C-A c.6983C>A p.P2328Q Missense 42/82 - 2
7-21751478-C-T c.6983C>T p.P2328L Missense 42/82 - 3
7-21751479-G-A c.6983+1G>A - IntronicSNV - 42/81 3
7-21754157-G-A c.6983+2679G>A - IntronicSNV - 42/81 1
7-21757287-T-C c.6984-106T>C - IntronicSNV - 42/81 5
7-21757399-G-T c.6990G>T p.V2330= Synonymous 43/82 - 1
7-21757409-A-AT c.7001dup p.D2335Rfs*17 Frameshift 43/82 - 1
7-21757412-G-C c.7003G>C p.D2335H Missense 43/82 - 1
7-21757418-A-C c.7009A>C p.R2337= Synonymous 43/82 - 1
7-21757420-G-A c.7011G>A p.R2337= Synonymous 43/82 - 1
7-21757421-C-T c.7012C>T p.R2338W Missense 43/82 - 1
7-21757422-G-A c.7013G>A p.R2338Q Missense 43/82 - 1
7-21757424-C-T c.7015C>T p.H2339Y Missense 43/82 - 1
7-21757433-G-A c.7024G>A p.E2342K Missense 43/82 - 2
7-21757433-G-T c.7024G>T p.E2342* Nonsense 43/82 - 1
7-21757434-A-G c.7025A>G p.E2342G Missense 43/82 - 1
7-21757438-G-C c.7029G>C p.K2343N Missense 43/82 - 1
7-21757439-G-A c.7030G>A p.A2344T Missense 43/82 - 2
7-21757441-C-T c.7032C>T p.A2344= Synonymous 43/82 - 1
7-21757447-G-C c.7038G>C p.L2346F Missense 43/82 - 2
7-21757447-G-T c.7038G>T p.L2346F Missense 43/82 - 1
7-21757450-T-G c.7041T>G p.T2347= Synonymous 43/82 - 1
7-21757454-C-A c.7045C>A p.L2349I Missense 43/82 - 1
7-21757454-C-T c.7045C>T p.L2349F Missense 43/82 - 2
7-21757455-T-A c.7046T>A p.L2349H Missense 43/82 - 3
7-21757457-T-G c.7048T>G p.F2350V Missense 43/82 - 1
7-21757460-G-A c.7051G>A p.D2351N Missense 43/82 - 2
7-21757464-A-C c.7055A>C p.K2352T Missense 43/82 - 2
7-21757464-A-T c.7055A>T p.K2352I Missense 43/82 - 1
7-21757468-T-C c.7059T>C p.Y2353= Synonymous 43/82 - 2
7-21757470-T-A c.7061T>A p.V2354D Missense 43/82 - 1
7-21757471-C-T c.7062C>T p.V2354= Synonymous 43/82 - 2
7-21757472-C-T c.7063C>T p.P2355S Missense 43/82 - 1
7-21757473-C-A c.7064C>A p.P2355H Missense 43/82 - 1
7-21757480-C-A c.7071C>A p.C2357* Nonsense 43/82 - 1
7-21757481-T-C c.7072T>C p.L2358= Synonymous 43/82 - 1
7-21757483-G-A c.7074G>A p.L2358= Synonymous 43/82 - 1
7-21757485-A-T c.7076A>T p.D2359V Missense 43/82 - 1
7-21757491-T-A c.7082T>A p.L2361Q Missense 43/82 - 1
7-21757494-G-A c.7085G>A p.R2362K Missense 43/82 - 1
7-21757494-G-T c.7085G>T p.R2362I Missense 43/82 - 3
7-21757498-A-C c.7089A>C p.T2363= Synonymous 43/82 - 2
7-21757498-A-G c.7089A>G p.T2363= Synonymous 43/82 - 1
7-21757498-A-T c.7089A>T p.T2363= Synonymous 43/82 - 2
7-21757500-G-A c.7091G>A p.S2364N Missense 43/82 - 1
7-21757502-T-C c.7093T>C p.F2365L Missense 43/82 - 1
7-21757508-A-C c.7099A>C p.T2367P Missense 43/82 - 1
7-21757509-C-T c.7100C>T p.T2367I Missense 43/82 - 1
7-21757514-A-G c.7105A>G p.T2369A Missense 43/82 - 1
7-21757518-C-G c.7109C>G p.S2370* Nonsense 43/82 - 2
7-21757519-A-T c.7110A>T p.S2370= Synonymous 43/82 - 2
7-21757523-C-T c.7114C>T p.P2372S Missense 43/82 - 2
7-21757524-C-A c.7115C>A p.P2372H Missense 43/82 - 1
7-21757524-C-G c.7115C>G p.P2372R Missense 43/82 - 1
7-21757527-A-G c.7118A>G p.E2373G Missense 43/82 - 1
7-21757528-G-GC c.7119_7120insC p.S2374Qfs*2 Frameshift 43/82 - 2
7-21757529-A-T c.7120A>T p.S2374C Missense 43/82 - 2
7-21757530-G-A c.7121G>A p.S2374N Missense 43/82 - 1
7-21757532-A-C c.7123A>C p.S2375R Missense 43/82 - 1
7-21757534-C-A c.7125C>A p.S2375R Missense 43/82 - 3
7-21757534-C-G c.7125C>G p.S2375R Missense 43/82 - 1
7-21757538-G-A c.7129G>A p.V2377M Missense 43/82 - 1
7-21757544-G-A c.7134+1G>A - IntronicSNV - 43/81 1
7-21757570-G-A c.7134+27G>A - IntronicSNV - 43/81 1
7-21757578-T-C c.7134+35T>C - IntronicSNV - 43/81 2
7-21757578-T-G c.7134+35T>G - IntronicSNV - 43/81 1
7-21757636-G-A c.7134+93G>A - IntronicSNV - 43/81 7
7-21757690-G-A c.7134+147G>A - IntronicSNV - 43/81 3
7-21757690-G-C c.7134+147G>C - IntronicSNV - 43/81 2
7-21757807-A-T c.7134+264A>T - IntronicSNV - 43/81 1
7-21757818-G-A c.7134+275G>A - IntronicSNV - 43/81 1
7-21758045-T-A c.7134+502T>A - IntronicSNV - 43/81 2
7-21758045-T-G c.7134+502T>G - IntronicSNV - 43/81 2
7-21760343-GACTCTATGTGTTCTTTTGGAGTGCTTGCTGACTCCTGAAAATGTACCTTCTGACAGCCC-G c.7136_7194del p.T2379Kfs*5 InFrameDeletion 44/82 - 3
7-21760346-C-G c.7138C>G p.L2380V Missense 44/82 - 1
7-21760352-G-A c.7144G>A p.V2382I Missense 44/82 - 1
7-21760355-C-A c.7147C>A p.L2383I Missense 44/82 - 2
7-21760355-C-T c.7147C>T p.L2383F Missense 44/82 - 3
7-21760356-T-C c.7148T>C p.L2383P Missense 44/82 - 5
7-21760363-G-T c.7155G>T p.E2385D Missense 44/82 - 1
7-21760365-G-A c.7157G>A p.C2386Y Missense 44/82 - 2
7-21760367-T-G c.7159T>G p.L2387V Missense 44/82 - 1
7-21760367-TTG-ATC c.7159_7161delinsATC p.L2387I Missense 44/82 - 1
7-21760368-T-G c.7160T>G p.L2387W Missense 44/82 - 2
7-21760376-CC-TT c.7168_7169delinsTT p.P2390F Missense 44/82 - 1
7-21760376-C-G c.7168C>G p.P2390A Missense 44/82 - 2
7-21760376-C-T c.7168C>T p.P2390S Missense 44/82 - 2
7-21760388-C-G c.7180C>G p.P2394A Missense 44/82 - 2
7-21760389-C-T c.7181C>T p.P2394L Missense 44/82 - 1
7-21760395-A-G c.7187A>G p.D2396G Missense 44/82 - 1
7-21760398-G-A c.7190G>A p.S2397N Missense 44/82 - 1
7-21760398-G-T c.7190G>T p.S2397I Missense 44/82 - 1
7-21760400-C-G c.7192C>G p.P2398A Missense 44/82 - 1
7-21760401-CAAA-C c.7195_7197del p.K2399del InFrameDeletion 44/82 - 1
7-21760406-G-A c.7198G>A p.E2400K Missense 44/82 - 3
7-21760408-A-C c.7200A>C p.E2400D Missense 44/82 - 1
7-21760408-A-T c.7200A>T p.E2400D Missense 44/82 - 1
7-21760412-T-A c.7204T>A p.Y2402N Missense 44/82 - 1
7-21760412-T-G c.7204T>G p.Y2402D Missense 44/82 - 1
7-21760416-A-C c.7208A>C p.E2403A Missense 44/82 - 1
7-21760418-G-A c.7210G>A p.V2404I Missense 44/82 - 1
7-21760419-T-G c.7211T>G p.V2404G Missense 44/82 - 1
7-21760420-C-T c.7212C>T p.V2404= Synonymous 44/82 - 1
7-21760421-T-A c.7213T>A p.Y2405N Missense 44/82 - 1
7-21760422-A-AT c.7218dup p.V2407Cfs*19 Frameshift 44/82 - 1
7-21760422-AT-A c.7218del p.F2406Lfs*33 Frameshift 44/82 - 1
7-21760427-G-A c.7219G>A p.V2407I Missense 44/82 - 1
7-21760427-G-GT c.7220dup p.F2408Ifs*18 Frameshift 44/82 - 1
7-21760437-G-T c.7229G>T p.C2410F Missense 44/82 - 1
7-21760439-A-T c.7231A>T p.I2411F Missense 44/82 - 1
7-21760441-C-G c.7233C>G p.I2411M Missense 44/82 - 1
7-21760446-C-T c.7238C>T p.A2413V Missense 44/82 - 2
7-21760448-T-G c.7240T>G p.F2414V Missense 44/82 - 2
7-21760452-G-C c.7244G>C p.G2415A Missense 44/82 - 1
7-21760454-G-A c.7246G>A p.G2416S Missense 44/82 - 1
7-21760456-C-T c.7248C>T p.G2416= Synonymous 44/82 - 1
7-21760457-A-C c.7249A>C p.T2417P Missense 44/82 - 1
7-21760460-C-G c.7252C>G p.L2418V Missense 44/82 - 1
7-21760464-T-C c.7256T>C p.L2419P Missense 44/82 - 1
7-21760472-C-T c.7264C>T p.Q2422* Nonsense 44/82 - 1
7-21760475-G-A c.7266+1G>A - IntronicSNV - 44/81 4
7-21760477-A-G c.7266+3A>G - IntronicSNV - 44/81 1
7-21760554-T-C c.7266+80T>C - IntronicSNV - 44/81 1
7-21765403-A-C c.7267-26A>C - IntronicSNV - 44/81 4
7-21765403-A-G c.7267-26A>G - IntronicSNV - 44/81 4
7-21765433-C-G c.7271C>G p.S2424C Missense 45/82 - 3
7-21765433-C-T c.7271C>T p.S2424F Missense 45/82 - 1
7-21765435-G-C c.7273G>C p.D2425H Missense 45/82 - 1
7-21765441-C-G c.7279C>G p.Q2427E Missense 45/82 - 2
7-21765447-G-C c.7285G>C p.D2429H Missense 45/82 - 1
7-21765449-C-T c.7287C>T p.D2429= Synonymous 45/82 - 1
7-21765452-C-G c.7290C>G p.F2430L Missense 45/82 - 7
7-21765452-C-T c.7290C>T p.F2430= Synonymous 45/82 - 16
7-21765453-AG-TT c.7291_7292delinsTT p.S2431F Missense 45/82 - 1
7-21765453-A-T c.7291A>T p.S2431C Missense 45/82 - 1
7-21765454-G-A c.7292G>A p.S2431N Missense 45/82 - 1
7-21765454-G-T c.7292G>T p.S2431I Missense 45/82 - 6
7-21765456-C-T c.7294C>T p.R2432W Missense 45/82 - 2
7-21765457-G-A c.7295G>A p.R2432Q Missense 45/82 - 4
7-21765458-G-A c.7296G>A p.R2432= Synonymous 45/82 - 1
7-21765460-G-C c.7298G>C p.W2433S Missense 45/82 - 1
7-21765465-C-T c.7303C>T p.Q2435* Nonsense 45/82 - 1
7-21765467-G-A c.7305G>A p.Q2435= Synonymous 45/82 - 1
7-21765471-G-T c.7309G>T p.E2437* Nonsense 45/82 - 1
7-21765473-G-A c.7311G>A p.E2437= Synonymous 45/82 - 1
7-21765473-G-C c.7311G>C p.E2437D Missense 45/82 - 1
7-21765473-G-T c.7311G>T p.E2437D Missense 45/82 - 1
7-21765474-A-T c.7312A>T p.M2438L Missense 45/82 - 1
7-21765480-G-T c.7318G>T p.A2440S Missense 45/82 - 2
7-21765481-C-T c.7319C>T p.A2440V Missense 45/82 - 1
7-21765485-G-A c.7323G>A p.V2441= Synonymous 45/82 - 2
7-21765485-G-C c.7323G>C p.V2441= Synonymous 45/82 - 2
7-21765485-G-T c.7323G>T p.V2441= Synonymous 45/82 - 2
7-21765487-A-G c.7325A>G p.K2442R Missense 45/82 - 1
7-21765493-C-T c.7331C>T p.P2444L Missense 45/82 - 3
7-21765496-C-T c.7334C>T p.S2445L Missense 45/82 - 1
7-21765497-G-A c.7335G>A p.S2445= Synonymous 45/82 - 11
7-21765497-G-C c.7335G>C p.S2445= Synonymous 45/82 - 2
7-21765497-G-T c.7335G>T p.S2445= Synonymous 45/82 - 10
7-21765498-C-T c.7336C>T p.Q2446* Nonsense 45/82 - 1
7-21765501-G-A c.7339G>A p.G2447R Missense 45/82 - 1
7-21765501-G-C c.7339G>C p.G2447R Missense 45/82 - 1
7-21765505-C-A c.7343C>A p.T2448K Missense 45/82 - 1
7-21765507-A-C c.7345A>C p.I2449L Missense 45/82 - 1
7-21765508-T-A c.7346T>A p.I2449N Missense 45/82 - 1
7-21765513-G-A c.7351G>A p.D2451N Missense 45/82 - 2
7-21765513-G-C c.7351G>C p.D2451H Missense 45/82 - 1
7-21765518-T-A c.7356T>A p.Y2452* Nonsense 45/82 - 1
7-21765518-T-G c.7356T>G p.Y2452* Nonsense 45/82 - 1
7-21765525-G-A c.7363G>A p.D2455N Missense 45/82 - 1
7-21765526-A-C c.7364A>C p.D2455A Missense 45/82 - 2
7-21765526-A-G c.7364A>G p.D2455G Missense 45/82 - 2
7-21765528-C-A c.7366C>A p.H2456N Missense 45/82 - 1
7-21765539-G-C c.7377G>C p.K2459N Missense 45/82 - 2
7-21765541-A-G c.7379A>G p.K2460R Missense 45/82 - 2
7-21765541-A-T c.7379A>T p.K2460I Missense 45/82 - 1
7-21765545-A-T c.7383A>T p.L2461F Missense 45/82 - 2
7-21765546-T-A c.7384T>A p.L2462M Missense 45/82 - 2
7-21765546-T-C c.7384T>C p.L2462= Synonymous 45/82 - 2
7-21765548-G-A c.7386G>A p.L2462= Synonymous 45/82 - 2
7-21765548-G-T c.7386G>T p.L2462F Missense 45/82 - 1
7-21765550-C-T c.7388C>T p.P2463L Missense 45/82 - 1
7-21765555-G-C c.7393G>C p.A2465P Missense 45/82 - 1
7-21765555-G-T c.7393G>T p.A2465S Missense 45/82 - 1
7-21765565-T-C c.7403T>C p.I2468T Missense 45/82 - 1
7-21765574-T-A c.7412T>A p.F2471Y Missense 45/82 - 1
7-21765579-A-G c.7417A>G p.M2473V Missense 45/82 - 1
7-21765581-G-T c.7419G>T p.M2473I Missense 45/82 - 1
7-21765582-G-A c.7420G>A p.D2474N Missense 45/82 - 1
7-21765609-G-A c.7440+7G>A - IntronicSNV - 45/81 1
7-21765636-T-C c.7440+34T>C - IntronicSNV - 45/81 7
7-21765665-C-A c.7440+63C>A - IntronicSNV - 45/81 1
7-21765827-G-A c.7440+225G>A - IntronicSNV - 45/81 2
7-21766737-G-C c.7440+1135G>C - IntronicSNV - 45/81 1
7-21771465-G-A c.7441-3793G>A - IntronicSNV - 45/81 1
7-21775063-G-A c.7441-195G>A - IntronicSNV - 45/81 1
7-21775153-A-C c.7441-105A>C - IntronicSNV - 45/81 5
7-21775196-T-TCTCTCTCGCACGCG c.7441-49_7441-48insGCTCTCTCGCACGC - IntronicInsertion - 45/81 2
7-21775210-A-G c.7441-48A>G - IntronicSNV - 45/81 7
7-21775210-A-T c.7441-48A>T - IntronicSNV - 45/81 7
7-21775212-T-G c.7441-46T>G - IntronicSNV - 45/81 1
7-21775266-C-A c.7449C>A p.L2483= Synonymous 46/82 - 1
7-21775266-C-G c.7449C>G p.L2483= Synonymous 46/82 - 1
7-21775266-C-T c.7449C>T p.L2483= Synonymous 46/82 - 1
7-21775267-G-A c.7450G>A p.V2484I Missense 46/82 - 3
7-21775273-A-G c.7456A>G p.T2486A Missense 46/82 - 1
7-21775274-C-A c.7457C>A p.T2486K Missense 46/82 - 1
7-21775274-C-T c.7457C>T p.T2486I Missense 46/82 - 1
7-21775277-C-T c.7460C>T p.T2487I Missense 46/82 - 1
7-21775281-G-A c.7464G>A p.E2488= Synonymous 46/82 - 2
7-21775282-A-C c.7465A>C p.T2489P Missense 46/82 - 1
7-21775285-G-A c.7468G>A p.A2490T Missense 46/82 - 2
7-21775288-C-T c.7471C>T p.R2491C Missense 46/82 - 2
7-21775289-G-A c.7472G>A p.R2491H Missense 46/82 - 2
7-21775289-G-C c.7472G>C p.R2491P Missense 46/82 - 1
7-21775296-A-G c.7479A>G p.R2493= Synonymous 46/82 - 1
7-21775302-C-T c.7485C>T p.F2495= Synonymous 46/82 - 1
7-21775303-A-G c.7486A>G p.M2496V Missense 46/82 - 1
7-21775305-G-A c.7488G>A p.M2496I Missense 46/82 - 3
7-21775305-G-C c.7488G>C p.M2496I Missense 46/82 - 1
7-21775305-G-T c.7488G>T p.M2496I Missense 46/82 - 1
7-21775307-A-T c.7490A>T p.E2497V Missense 46/82 - 3
7-21775311-G-A c.7494G>A p.L2498= Synonymous 46/82 - 1
7-21775312-T-C c.7495T>C p.L2499= Synonymous 46/82 - 2
7-21775312-TTG-ATC c.7495_7497delinsATC p.L2499I Missense 46/82 - 1
7-21775318-G-C c.7501G>C p.E2501Q Missense 46/82 - 1
7-21775318-G-T c.7501G>T p.E2501* Nonsense 46/82 - 1
7-21775320-G-A c.7503G>A p.E2501= Synonymous 46/82 - 1
7-21775323-AGGAAAACCTCTAAT-A c.7508_7521del p.G2503Afs*15 Frameshift 46/82 - 2
7-21775324-G-GGTT c.7508_7509insTTG p.G2503_K2504ins* Nonsense 46/82 - 1
7-21775325-G-A c.7508G>A p.G2503E Missense 46/82 - 5
7-21775325-G-T c.7508G>T p.G2503V Missense 46/82 - 1
7-21775329-A-G c.7512A>G p.K2504= Synonymous 46/82 - 1
7-21775334-T-C c.7517T>C p.L2506P Missense 46/82 - 1
7-21775342-G-A c.7525G>A p.V2509I Missense 46/82 - 1
7-21775343-T-C c.7526T>C p.V2509A Missense 46/82 - 2
7-21775345-G-A c.7528G>A p.G2510R Missense 46/82 - 3
7-21775345-G-C c.7528G>C p.G2510R Missense 46/82 - 1
7-21775346-G-A c.7529G>A p.G2510E Missense 46/82 - 3
7-21775351-G-T c.7534G>T p.A2512S Missense 46/82 - 1
7-21775352-C-A c.7535C>A p.A2512E Missense 46/82 - 1
7-21775355-G-A c.7538G>A p.G2513E Missense 46/82 - 1
7-21775355-G-T c.7538G>T p.G2513V Missense 46/82 - 1
7-21775357-GTG-ATC c.7540_7542delinsATC p.V2514I Missense 46/82 - 1
7-21775361-G-A c.7544G>A p.G2515E Missense 46/82 - 4
7-21775361-GGA-G c.7544_7545del p.G2515Efs*7 Frameshift 46/82 - 1
7-21775361-GA-G c.7549del p.T2517Qfs*4 Frameshift 46/82 - 1
7-21775366-A-G c.7549A>G p.T2517A Missense 46/82 - 6
7-21775367-C-A c.7550C>A p.T2517K Missense 46/82 - 2
7-21775369-G-A c.7552G>A p.V2518I Missense 46/82 - 15
7-21775370-T-C c.7553T>C p.V2518A Missense 46/82 - 1
7-21775371-C-A c.7554C>A p.V2518= Synonymous 46/82 - 1
7-21775371-C-G c.7554C>G p.V2518= Synonymous 46/82 - 1
7-21775371-C-T c.7554C>T p.V2518= Synonymous 46/82 - 1
7-21775373-T-A c.7556T>A p.F2519Y Missense 46/82 - 1
7-21775375-G-A c.7558G>A p.V2520I Missense 46/82 - 1
7-21775376-T-C c.7559T>C p.V2520A Missense 46/82 - 1
7-21775378-G-C c.7561G>C p.G2521R Missense 46/82 - 1
7-21775380-T-A c.7563T>A p.G2521= Synonymous 46/82 - 1
7-21775387-T-A c.7570T>A p.L2524M Missense 46/82 - 4
7-21775387-T-C c.7570T>C p.L2524= Synonymous 46/82 - 8
7-21775387-T-G c.7570T>G p.L2524V Missense 46/82 - 3
7-21775389-G-A c.7572G>A p.L2524= Synonymous 46/82 - 1
7-21775388-T-C c.7571T>C p.L2524S Missense 46/82 - 1
7-21775390-G-A c.7573G>A p.A2525T Missense 46/82 - 1
7-21775391-C-T c.7574C>T p.A2525V Missense 46/82 - 2
7-21775393-A-T c.7576A>T p.S2526C Missense 46/82 - 1
7-21775397-T-C c.7580T>C p.L2527P Missense 46/82 - 1
7-21775402-G-T c.7585G>T p.E2529* Nonsense 46/82 - 2
7-21775403-A-G c.7586A>G p.E2529G Missense 46/82 - 1
7-21775404-G-A c.7587G>A p.E2529= Synonymous 46/82 - 1
7-21775406-A-C c.7589A>C p.D2530A Missense 46/82 - 1
7-21775406-A-G c.7589A>G p.D2530G Missense 46/82 - 7
7-21775408-T-C c.7591T>C p.Y2531H Missense 46/82 - 1
7-21775417-T-G c.7600T>G p.S2534A Missense 46/82 - 1
7-21775420-C-A c.7603C>A p.R2535S Missense 46/82 - 1
7-21775421-G-A c.7604G>A p.R2535H Missense 46/82 - 3
7-21775423-G-C c.7606G>C p.V2536L Missense 46/82 - 1
7-21775426-C-T c.7609C>T p.P2537S Missense 46/82 - 2
7-21775437-C-A c.7620C>A p.Y2540* Nonsense 46/82 - 1
7-21775438-T-C c.7621T>C p.Y2541H Missense 46/82 - 1
7-21775443-G-A c.7626G>A p.T2542= Synonymous 46/82 - 24
7-21775443-G-C c.7626G>C p.T2542= Synonymous 46/82 - 12
7-21775443-G-T c.7626G>T p.T2542= Synonymous 46/82 - 22
7-21775447-T-C c.7630T>C p.S2544P Missense 46/82 - 3
7-21775447-TC-CT c.7630_7631delinsCT p.S2544L Missense 46/82 - 1
7-21775453-G-T c.7636G>T p.A2546S Missense 46/82 - 1
7-21775454-C-A c.7637C>A p.A2546D Missense 46/82 - 1
7-21775454-C-G c.7637C>G p.A2546G Missense 46/82 - 1
7-21775454-C-T c.7637C>T p.A2546V Missense 46/82 - 1
7-21775456-C-T c.7639C>T p.L2547= Synonymous 46/82 - 1
7-21775458-G-A c.7641G>A p.L2547= Synonymous 46/82 - 1
7-21775458-G-C c.7641G>C p.L2547= Synonymous 46/82 - 1
7-21775458-G-T c.7641G>T p.L2547= Synonymous 46/82 - 2
7-21775459-C-T c.7642C>T p.Q2548* Nonsense 46/82 - 2
7-21775467-G-A c.7645+5G>A - IntronicSNV - 46/81 2
7-21775521-A-T c.7645+59A>T - IntronicSNV - 46/81 2
7-21775819-G-T c.7645+357G>T - IntronicSNV - 46/81 1
7-21777455-T-G c.7646-864T>G - IntronicSNV - 46/81 1
7-21778173-T-G c.7646-146T>G - IntronicSNV - 46/81 1
7-21778175-C-T c.7646-144C>T - IntronicSNV - 46/81 2
7-21778197-G-A c.7646-122G>A - IntronicSNV - 46/81 2
7-21778200-C-T c.7646-119C>T - IntronicSNV - 46/81 2
7-21778263-C-G c.7646-56C>G - IntronicSNV - 46/81 1
7-21778322-T-C c.7649T>C p.I2550T Missense 47/82 - 1
7-21778324-C-A c.7651C>A p.L2551I Missense 47/82 - 1
7-21778324-C-T c.7651C>T p.L2551F Missense 47/82 - 4
7-21778327-G-A c.7654G>A p.E2552K Missense 47/82 - 1
7-21778328-A-G c.7655A>G p.E2552G Missense 47/82 - 1
7-21778329-G-C c.7656G>C p.E2552D Missense 47/82 - 2
7-21778341-G-A c.7668G>A p.E2556= Synonymous 47/82 - 2
7-21778342-A-T c.7669A>T p.K2557* Nonsense 47/82 - 1
7-21778341-G-GA c.7674dup p.A2559Sfs*4 Frameshift 47/82 - 2
7-21778351-G-A c.7678G>A p.G2560S Missense 47/82 - 1
7-21778352-G-C c.7679G>C p.G2560A Missense 47/82 - 2
7-21778361-A-G c.7688A>G p.Y2563C Missense 47/82 - 1
7-21778369-G-A c.7696G>A p.G2566R Missense 47/82 - 1
7-21778369-G-C c.7696G>C p.G2566R Missense 47/82 - 1
7-21778372-G-A c.7699G>A p.G2567R Missense 47/82 - 1
7-21778372-G-T c.7699G>T p.G2567* Nonsense 47/82 - 1
7-21778373-G-A c.7700G>A p.G2567E Missense 47/82 - 3
7-21778376-A-AT c.7704dup p.K2569* Nonsense 47/82 - 1
7-21778380-A-AT c.7707_7708insT p.K2570* Nonsense 47/82 - 1
7-21778386-G-C c.7713G>C p.L2571F Missense 47/82 - 1
7-21778386-G-T c.7713G>T p.L2571F Missense 47/82 - 1
7-21778387-A-T c.7714A>T p.I2572F Missense 47/82 - 1
7-21778398-C-A c.7725C>A p.I2575= Synonymous 47/82 - 1
7-21778399-G-A c.7726G>A p.D2576N Missense 47/82 - 3
7-21778402-G-A c.7729G>A p.D2577N Missense 47/82 - 2
7-21778402-G-C c.7729G>C p.D2577H Missense 47/82 - 2
7-21778407-G-A c.7734G>A p.M2578I Missense 47/82 - 1
7-21778411-A-C c.7738A>C p.M2580L Missense 47/82 - 1
7-21778411-A-T c.7738A>T p.M2580L Missense 47/82 - 2
7-21778416-T-A c.7743T>A p.P2581= Synonymous 47/82 - 1
7-21778416-T-C c.7743T>C p.P2581= Synonymous 47/82 - 1
7-21778416-T-G c.7743T>G p.P2581= Synonymous 47/82 - 2
7-21778420-G-A c.7747G>A p.V2583M Missense 47/82 - 1
7-21778422-G-A c.7749G>A p.V2583= Synonymous 47/82 - 2
7-21778423-G-A c.7750G>A p.D2584N Missense 47/82 - 2
7-21778423-G-T c.7750G>T p.D2584Y Missense 47/82 - 2
7-21778425-C-A c.7752C>A p.D2584E Missense 47/82 - 1
7-21778425-C-G c.7752C>G p.D2584E Missense 47/82 - 1
7-21778429-T-C c.7756T>C p.Y2586H Missense 47/82 - 10
7-21778431-T-C c.7758T>C p.Y2586= Synonymous 47/82 - 1
7-21778438-G-A c.7765G>A p.V2589I Missense 47/82 - 5
7-21778441-C-T c.7768C>T p.Q2590* Nonsense 47/82 - 1
7-21778443-G-A c.7770G>A p.Q2590= Synonymous 47/82 - 1
7-21778445-C-T c.7772C>T p.P2591L Missense 47/82 - 3
7-21778449-C-A c.7776C>A p.H2592Q Missense 47/82 - 10
7-21778449-C-T c.7776C>T p.H2592= Synonymous 47/82 - 22
7-21778455-TGA-T c.7782_7783del p.I2595Pfs*5 Frameshift 47/82 - 1
7-21778459-C-T c.7786C>T p.R2596W Missense 47/82 - 4
7-21778460-G-A c.7787G>A p.R2596Q Missense 47/82 - 2
7-21778462-C-T c.7789C>T p.Q2597* Nonsense 47/82 - 1
7-21778462-GCAGCATATTGATTATGGACATTGGTAAGCAAGTCTCTGTAGTTTACTCTCTCCCAAAAT-G c.7790_7811+37del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 47/82 47/81 1
7-21778468-A-G c.7795A>G p.I2599V Missense 47/82 - 1
7-21778471-G-A c.7798G>A p.D2600N Missense 47/82 - 3
7-21778473-T-C c.7800T>C p.D2600= Synonymous 47/82 - 1
7-21778477-G-A c.7804G>A p.G2602R Missense 47/82 - 2
7-21778477-G-C c.7804G>C p.G2602R Missense 47/82 - 2
7-21778484-G-A c.7811G>A p.W2604* Nonsense 47/82 - 6
7-21779189-G-A c.7812G>A p.W2604* Nonsense 48/82 - 7
7-21778529-T-C c.7811+45T>C - IntronicSNV - 47/81 2
7-21778529-T-G c.7811+45T>G - IntronicSNV - 47/81 2
7-21778678-G-A c.7811+194G>A - IntronicSNV - 47/81 1
7-21779084-G-A c.7812-105G>A - IntronicSNV - 47/81 3
7-21779104-C-G c.7812-85C>G - IntronicSNV - 47/81 2
7-21779104-C-T c.7812-85C>T - IntronicSNV - 47/81 2
7-21779113-C-T c.7812-76C>T - IntronicSNV - 47/81 1
7-21779191-A-G c.7814A>G p.Y2605C Missense 48/82 - 1
7-21779197-G-A c.7820G>A p.R2607K Missense 48/82 - 2
7-21779196-A-C c.7819A>C p.R2607= Synonymous 48/82 - 2
7-21779198-A-G c.7821A>G p.R2607= Synonymous 48/82 - 2
7-21779199-C-A c.7822C>A p.Q2608K Missense 48/82 - 1
7-21779201-G-A c.7824G>A p.Q2608= Synonymous 48/82 - 1
7-21779201-G-T c.7824G>T p.Q2608H Missense 48/82 - 2
7-21779203-A-T c.7826A>T p.K2609M Missense 48/82 - 2
7-21779211-C-T c.7834C>T p.L2612F Missense 48/82 - 2
7-21779215-A-G c.7838A>G p.K2613R Missense 48/82 - 1
7-21779217-G-C c.7840G>C p.E2614Q Missense 48/82 - 1
7-21779217-G-T c.7840G>T p.E2614* Nonsense 48/82 - 1
7-21779222-C-T c.7845C>T p.I2615= Synonymous 48/82 - 1
7-21779223-C-T c.7846C>T p.H2616Y Missense 48/82 - 1
7-21779224-A-G c.7847A>G p.H2616R Missense 48/82 - 1
7-21779224-A-T c.7847A>T p.H2616L Missense 48/82 - 2
7-21779227-A-G c.7850A>G p.N2617S Missense 48/82 - 1
7-21779228-C-T c.7851C>T p.N2617= Synonymous 48/82 - 1
7-21779238-G-A c.7861G>A p.V2621I Missense 48/82 - 2
7-21779240-C-A c.7863C>A p.V2621= Synonymous 48/82 - 1
7-21779240-C-G c.7863C>G p.V2621= Synonymous 48/82 - 1
7-21779240-C-T c.7863C>T p.V2621= Synonymous 48/82 - 2
7-21779241-G-A c.7864G>A p.A2622T Missense 48/82 - 2
7-21779243-C-T c.7866C>T p.A2622= Synonymous 48/82 - 2
7-21779253-C-T c.7876C>T p.P2626S Missense 48/82 - 1
7-21779254-C-T c.7877C>T p.P2626L Missense 48/82 - 3
7-21779255-G-A c.7878G>A p.P2626= Synonymous 48/82 - 2
7-21779255-G-C c.7878G>C p.P2626= Synonymous 48/82 - 2
7-21779255-G-T c.7878G>T p.P2626= Synonymous 48/82 - 2
7-21779261-G-T c.7884G>T p.V2628= Synonymous 48/82 - 1
7-21779262-G-A c.7885G>A p.G2629S Missense 48/82 - 2
7-21779263-G-A c.7886G>A p.G2629D Missense 48/82 - 1
7-21779266-G-A c.7889G>A p.S2630N Missense 48/82 - 1
7-21779268-T-A c.7891T>A p.F2631I Missense 48/82 - 3
7-21779270-C-T c.7893C>T p.F2631= Synonymous 48/82 - 2
7-21779272-CC-TG c.7895_7896delinsTG p.T2632M Missense 48/82 - 1
7-21779276-TC-T c.7899del p.N2634Ifs*21 Frameshift 48/82 - 1
7-21779278-A-G c.7901A>G p.N2634S Missense 48/82 - 32
7-21779278-A-T c.7901A>T p.N2634I Missense 48/82 - 11
7-21779279-T-C c.7902T>C p.N2634= Synonymous 48/82 - 1
7-21779280-C-T c.7903C>T p.P2635S Missense 48/82 - 4
7-21779283-AG-CA c.7906_7907delinsCA p.R2636Q Missense 48/82 - 1
7-21779284-G-A c.7907G>A p.R2636K Missense 48/82 - 1
7-21779284-G-T c.7907G>T p.R2636M Missense 48/82 - 1
7-21779285-G-C c.7908G>C p.R2636S Missense 48/82 - 1
7-21779289-C-A c.7912C>A p.Q2638K Missense 48/82 - 1
7-21779291-G-C c.7914G>C p.Q2638H Missense 48/82 - 6
7-21779291-G-T c.7914G>T p.Q2638H Missense 48/82 - 1
7-21779331-T-C c.7914+40T>C - IntronicSNV - 48/81 7
7-21779665-G-A c.7914+374G>A - IntronicSNV - 48/81 1
7-21781411-A-G c.7915-134A>G - IntronicSNV - 48/81 1
7-21781546-G-A c.7916G>A p.R2639K Missense 49/82 - 2
7-21781546-G-C c.7916G>C p.R2639T Missense 49/82 - 1
7-21781552-T-C c.7922T>C p.F2641S Missense 49/82 - 1
7-21781557-G-A c.7927G>A p.V2643M Missense 49/82 - 2
7-21781562-T-A c.7932T>A p.F2644L Missense 49/82 - 1
7-21781562-T-G c.7932T>G p.F2644L Missense 49/82 - 1
7-21781563-G-T c.7933G>T p.A2645S Missense 49/82 - 1
7-21781567-T-G c.7937T>G p.F2646C Missense 49/82 - 2
7-21781568-C-T c.7938C>T p.F2646= Synonymous 49/82 - 1
7-21781573-T-A c.7943T>A p.F2648Y Missense 49/82 - 2
7-21781575-C-T c.7945C>T p.P2649S Missense 49/82 - 3
7-21781578-T-A c.7948T>A p.S2650T Missense 49/82 - 1
7-21781579-C-T c.7949C>T p.S2650F Missense 49/82 - 2
7-21781584-G-A c.7954G>A p.D2652N Missense 49/82 - 2
7-21781587-G-A c.7957G>A p.A2653T Missense 49/82 - 1
7-21781605-G-A c.7975G>A p.G2659S Missense 49/82 - 3
7-21781610-A-C c.7980A>C p.Q2660H Missense 49/82 - 3
7-21781610-A-T c.7980A>T p.Q2660H Missense 49/82 - 3
7-21781612-T-G c.7982T>G p.I2661S Missense 49/82 - 1
7-21781613-C-A c.7983C>A p.I2661= Synonymous 49/82 - 2
7-21781614-T-C c.7984T>C p.F2662L Missense 49/82 - 1
7-21781618-G-T c.7988G>T p.S2663I Missense 49/82 - 1
7-21781619-C-A c.7989C>A p.S2663R Missense 49/82 - 1
7-21781619-C-T c.7989C>T p.S2663= Synonymous 49/82 - 1
7-21781622-C-T c.7992C>T p.F2664= Synonymous 49/82 - 1
7-21781628-C-T c.7998C>T p.F2666= Synonymous 49/82 - 3
7-21781629-C-T c.7999C>T p.Q2667* Nonsense 49/82 - 1
7-21781637-A-G c.8007A>G p.Q2669= Synonymous 49/82 - 1
7-21781643-T-C c.8013T>C p.F2671= Synonymous 49/82 - 2
7-21781644-G-C c.8014G>C p.A2672P Missense 49/82 - 1
7-21781645-C-T c.8015C>T p.A2672V Missense 49/82 - 3
7-21781647-C-G c.8017C>G p.P2673A Missense 49/82 - 1
7-21781647-C-T c.8017C>T p.P2673S Missense 49/82 - 3
7-21781648-C-A c.8018C>A p.P2673Q Missense 49/82 - 1
7-21781648-C-T c.8018C>T p.P2673L Missense 49/82 - 3
7-21781651-C-T c.8021C>T p.S2674L Missense 49/82 - 1
7-21781653-A-C c.8023A>C p.I2675L Missense 49/82 - 2
7-21781653-A-G c.8023A>G p.I2675V Missense 49/82 - 8
7-21781653-A-T c.8023A>T p.I2675F Missense 49/82 - 3
7-21781656-C-A c.8026C>A p.L2676I Missense 49/82 - 1
7-21781658-C-T c.8028C>T p.L2676= Synonymous 49/82 - 1
7-21781659-A-G c.8029A>G p.R2677G Missense 49/82 - 1
7-21781661-G-A c.8031G>A p.R2677= Synonymous 49/82 - 1
7-21781661-G-T c.8031G>T p.R2677S Missense 49/82 - 1
7-21781662-A-T c.8032A>T p.S2678C Missense 49/82 - 1
7-21781662-A-C c.8032A>C p.S2678R Missense 49/82 - 1
7-21781665-G-T c.8035G>T p.G2679C Missense 49/82 - 4
7-21781667-C-T c.8037C>T p.G2679= Synonymous 49/82 - 1
7-21781668-C-T c.8038C>T p.P2680S Missense 49/82 - 1
7-21781669-C-T c.8039C>T p.P2680L Missense 49/82 - 4
7-21781680-C-G c.8050C>G p.Q2684E Missense 49/82 - 1
7-21781683-G-A c.8053G>A p.A2685T Missense 49/82 - 1
7-21781689-A-G c.8059A>G p.I2687V Missense 49/82 - 1
7-21781695-T-A c.8065T>A p.F2689I Missense 49/82 - 2
7-21781702-A-G c.8072A>G p.Q2691R Missense 49/82 - 1
7-21781703-G-C c.8073G>C p.Q2691H Missense 49/82 - 1
7-21781704-A-AC c.8075dup p.M2693Nfs*4 Frameshift 49/82 - 1
7-21781706-A-C c.8076A>C p.T2692= Synonymous 49/82 - 1
7-21781706-A-G c.8076A>G p.T2692= Synonymous 49/82 - 1
7-21781706-A-T c.8076A>T p.T2692= Synonymous 49/82 - 1
7-21781709-G-A c.8079G>A p.M2693I Missense 49/82 - 2
7-21781713-TG-AC c.8083_8084delinsAC p.C2695T Missense 49/82 - 1
7-21781714-G-A c.8084G>A p.C2695Y Missense 49/82 - 2
7-21781719-T-C c.8089T>C p.F2697L Missense 49/82 - 1
7-21781722-T-A c.8092T>A p.L2698I Missense 49/82 - 2
7-21781718-CT-C c.8093del p.L2698Yfs*13 Frameshift 49/82 - 1
7-21781723-T-C c.8093T>C p.L2698S Missense 49/82 - 2
7-21781725-C-A c.8095C>A p.P2699T Missense 49/82 - 1
7-21781725-C-T c.8095C>T p.P2699S Missense 49/82 - 1
7-21781730-G-A c.8100G>A p.T2700= Synonymous 49/82 - 1
7-21781730-G-T c.8100G>T p.T2700= Synonymous 49/82 - 1
7-21781740-T-G c.8110T>G p.F2704V Missense 49/82 - 1
7-21781744-A-G c.8114A>G p.H2705R Missense 49/82 - 3
7-21781748-C-A c.8118C>A p.Y2706* Nonsense 49/82 - 1
7-21781748-C-G c.8118C>G p.Y2706* Nonsense 49/82 - 1
7-21781755-A-T c.8125A>T p.N2709Y Missense 49/82 - 1
7-21781761-AGA-TGG c.8131_8133delinsTGG p.R2711W Missense 49/82 - 1
7-21781762-G-C c.8132G>C p.R2711T Missense 49/82 - 1
7-21781765-A-G c.8135A>G p.D2712G Missense 49/82 - 2
7-21781773-A-T c.8143A>T p.N2715Y Missense 49/82 - 1
7-21781775-C-T c.8145C>T p.N2715= Synonymous 49/82 - 2
7-21781777-T-C c.8147T>C p.V2716A Missense 49/82 - 1
7-21781778-C-A c.8148C>A p.V2716= Synonymous 49/82 - 2
7-21781778-C-G c.8148C>G p.V2716= Synonymous 49/82 - 2
7-21781778-C-T c.8148C>T p.V2716= Synonymous 49/82 - 2
7-21781807-T-C c.8154+23T>C - IntronicSNV - 49/81 6
7-21781866-A-G c.8154+82A>G - IntronicSNV - 49/81 1
7-21781866-A-T c.8154+82A>T - IntronicSNV - 49/81 1
7-21782092-A-C c.8154+308A>C - IntronicSNV - 49/81 1
7-21784037-C-T c.8155-19C>T - IntronicSNV - 49/81 3
7-21784056-G-A c.8155G>A p.G2719R Missense 50/82 - 1
7-21784057-G-T c.8156G>T p.G2719V Missense 50/82 - 1
7-21784058-G-A c.8157G>A p.G2719= Synonymous 50/82 - 2
7-21784060-T-C c.8159T>C p.I2720T Missense 50/82 - 1
7-21784061-T-C c.8160T>C p.I2720= Synonymous 50/82 - 1
7-21784065-T-G c.8164T>G p.F2722V Missense 50/82 - 1
7-21784069-C-G c.8168C>G p.A2723G Missense 50/82 - 1
7-21784070-T-A c.8169T>A p.A2723= Synonymous 50/82 - 1
7-21784070-T-C c.8169T>C p.A2723= Synonymous 50/82 - 1
7-21784070-T-G c.8169T>G p.A2723= Synonymous 50/82 - 1
7-21784072-C-A c.8171C>A p.S2724Y Missense 50/82 - 1
7-21784074-C-T c.8173C>T p.P2725S Missense 50/82 - 3
7-21784075-C-A c.8174C>A p.P2725H Missense 50/82 - 1
7-21784079-G-A c.8178G>A p.E2726= Synonymous 50/82 - 1
7-21784085-A-C c.8184A>C p.L2728F Missense 50/82 - 3
7-21784085-A-T c.8184A>T p.L2728F Missense 50/82 - 1
7-21784086-A-G c.8185A>G p.K2729E Missense 50/82 - 1
7-21784089-G-T c.8188G>T p.G2730C Missense 50/82 - 3
7-21784093-C-A c.8192C>A p.P2731Q Missense 50/82 - 1
7-21784095-C-T c.8194C>T p.L2732F Missense 50/82 - 2
7-21784098-G-T c.8197G>T p.D2733Y Missense 50/82 - 1
7-21784101-T-C c.8200T>C p.L2734= Synonymous 50/82 - 1
7-21784108-A-T c.8207A>T p.H2736L Missense 50/82 - 1
7-21784116-C-G c.8215C>G p.L2739V Missense 50/82 - 1
7-21784117-T-G c.8216T>G p.L2739R Missense 50/82 - 1
7-21784119-C-T c.8218C>T p.H2740Y Missense 50/82 - 3
7-21784120-A-C c.8219A>C p.H2740P Missense 50/82 - 1
7-21784126-C-T c.8225C>T p.S2742F Missense 50/82 - 1
7-21784129-C-T c.8228C>T p.A2743V Missense 50/82 - 1
7-21784130-C-G c.8229C>G p.A2743= Synonymous 50/82 - 1
7-21784131-C-T c.8230C>T p.R2744C Missense 50/82 - 4
7-21784132-G-A c.8231G>A p.R2744H Missense 50/82 - 3
7-21784140-G-A c.8239G>A p.G2747R Missense 50/82 - 1
7-21784141-G-C c.8240G>C p.G2747A Missense 50/82 - 1
7-21784147-A-G c.8246A>G p.K2749R Missense 50/82 - 1
7-21784153-T-C c.8252T>C p.I2751T Missense 50/82 - 1
7-21784155-G-A c.8254G>A p.D2752N Missense 50/82 - 2
7-21784157-C-G c.8256C>G p.D2752E Missense 50/82 - 1
7-21784157-C-CA c.8262dup p.D2755Rfs*3 Frameshift 50/82 - 1
7-21784163-A-C c.8262A>C p.K2754N Missense 50/82 - 1
7-21784163-A-T c.8262A>T p.K2754N Missense 50/82 - 1
7-21784164-G-T c.8263G>T p.D2755Y Missense 50/82 - 5
7-21784166-T-A c.8265T>A p.D2755E Missense 50/82 - 1
7-21784166-T-G c.8265T>G p.D2755E Missense 50/82 - 1
7-21784167-T-C c.8266T>C p.C2756R Missense 50/82 - 4
7-21784170-G-C c.8269G>C p.D2757H Missense 50/82 - 1
7-21784170-G-T c.8269G>T p.D2757Y Missense 50/82 - 3
7-21784171-A-T c.8270A>T p.D2757V Missense 50/82 - 1
7-21784174-T-A c.8273T>A p.L2758* Nonsense 50/82 - 1
7-21784176-T-C c.8275T>C p.F2759L Missense 50/82 - 5
7-21784178-T-A c.8277T>A p.F2759L Missense 50/82 - 1
7-21784178-T-G c.8277T>G p.F2759L Missense 50/82 - 1
7-21784178-T-TA c.8277_8278insA p.Q2760Tfs*10 Frameshift 50/82 - 1
7-21784179-C-T c.8278C>T p.Q2760* Nonsense 50/82 - 1
7-21784180-A-G c.8279A>G p.Q2760R Missense 50/82 - 1
7-21784183-G-A c.8282G>A p.R2761K Missense 50/82 - 4
7-21784184-A-G c.8283A>G p.R2761= Synonymous 50/82 - 1
7-21784183-G-GA c.8284dup p.R2762Kfs*8 Frameshift 50/82 - 1
7-21784185-A-G c.8284A>G p.R2762G Missense 50/82 - 1
7-21784181-GAGA-G c.8285_8287del p.R2762del InFrameDeletion 50/82 - 1
7-21784186-G-A c.8285G>A p.R2762K Missense 50/82 - 3
7-21784198-C-A c.8297C>A p.T2766N Missense 50/82 - 1
7-21784200-G-A c.8299G>A p.A2767T Missense 50/82 - 1
7-21784204-A-G c.8303A>G p.Y2768C Missense 50/82 - 1
7-21784211-T-A c.8310T>A p.Y2770* Nonsense 50/82 - 1
7-21784211-T-G c.8310T>G p.Y2770* Nonsense 50/82 - 1
7-21784211-T-TG c.8310_8311insG p.F2771Vfs*2 Frameshift 50/82 - 2
7-21784217-A-G c.8316A>G p.E2772= Synonymous 50/82 - 1
7-21784217-A-T c.8316A>T p.E2772D Missense 50/82 - 2
7-21784432-A-C c.8317-56A>C - IntronicSNV - 50/81 2
7-21784472-C-G c.8317-16C>G - IntronicSNV - 50/81 2
7-21784489-G-A c.8318G>A p.G2773D Missense 51/82 - 1
7-21784493-A-C c.8322A>C p.I2774= Synonymous 51/82 - 1
7-21784493-A-T c.8322A>T p.I2774= Synonymous 51/82 - 1
7-21784494-G-A c.8323G>A p.D2775N Missense 51/82 - 1
7-21784496-T-A c.8325T>A p.D2775E Missense 51/82 - 1
7-21784496-T-G c.8325T>G p.D2775E Missense 51/82 - 1
7-21784498-G-T c.8327G>T p.S2776I Missense 51/82 - 1
7-21784504-T-A c.8333T>A p.M2778K Missense 51/82 - 1
7-21784504-T-G c.8333T>G p.M2778R Missense 51/82 - 1
7-21784505-G-A c.8334G>A p.M2778I Missense 51/82 - 2
7-21784507-T-C c.8336T>C p.L2779P Missense 51/82 - 1
7-21784506-C-T c.8335C>T p.L2779= Synonymous 51/82 - 3
7-21784508-G-A c.8337G>A p.L2779= Synonymous 51/82 - 3
7-21784508-G-C c.8337G>C p.L2779= Synonymous 51/82 - 3
7-21784508-G-T c.8337G>T p.L2779= Synonymous 51/82 - 3
7-21784510-T-C c.8339T>C p.L2780P Missense 51/82 - 1
7-21784512-C-T c.8341C>T p.Q2781* Nonsense 51/82 - 2
7-21784514-A-C c.8343A>C p.Q2781H Missense 51/82 - 1
7-21784524-A-G c.8353A>G p.I2785V Missense 51/82 - 2
7-21784530-T-A c.8359T>A p.C2787S Missense 51/82 - 1
7-21784532-C-A c.8361C>A p.C2787* Nonsense 51/82 - 1
7-21784532-C-T c.8361C>T p.C2787= Synonymous 51/82 - 1
7-21784533-C-G c.8362C>G p.H2788D Missense 51/82 - 4
7-21784542-G-A c.8371G>A p.D2791N Missense 51/82 - 1
7-21784557-C-T c.8386C>T p.P2796S Missense 51/82 - 4
7-21784563-T-A c.8392T>A p.Y2798N Missense 51/82 - 1
7-21784566-A-G c.8395A>G p.M2799V Missense 51/82 - 1
7-21784569-C-T c.8398C>T p.P2800S Missense 51/82 - 1
7-21784570-C-T c.8399C>T p.P2800L Missense 51/82 - 1
7-21784589-G-A c.8418G>A p.V2806= Synonymous 51/82 - 1
7-21784597-C-T c.8426C>T p.T2809M Missense 51/82 - 1
7-21784598-G-A c.8427G>A p.T2809= Synonymous 51/82 - 2
7-21784598-G-C c.8427G>C p.T2809= Synonymous 51/82 - 1
7-21784599-A-G c.8428A>G p.I2810V Missense 51/82 - 1
7-21784602-C-T c.8431C>T p.L2811F Missense 51/82 - 1
7-21784605-A-G c.8434A>G p.T2812A Missense 51/82 - 2
7-21784611-A-G c.8440A>G p.T2814A Missense 51/82 - 3
7-21784612-C-T c.8441C>T p.T2814M Missense 51/82 - 3
7-21784614-T-G c.8443T>G p.L2815V Missense 51/82 - 1
7-21784618-A-T c.8447A>T p.D2816V Missense 51/82 - 1
7-21784624-A-G c.8453A>G p.Y2818C Missense 51/82 - 1
7-21784627-A-G c.8456A>G p.N2819S Missense 51/82 - 3
7-21784629-G-A c.8458G>A p.E2820K Missense 51/82 - 1
7-21784630-A-G c.8459A>G p.E2820G Missense 51/82 - 1
7-21784631-A-C c.8460A>C p.E2820D Missense 51/82 - 1
7-21784631-A-T c.8460A>T p.E2820D Missense 51/82 - 1
7-21784644-A-G c.8473A>G p.M2825V Missense 51/82 - 1
7-21784647-C-T c.8476C>T p.H2826Y Missense 51/82 - 1
7-21784649-C-T c.8478C>T p.H2826= Synonymous 51/82 - 2
7-21784653-G-C c.8482G>C p.V2828L Missense 51/82 - 1
7-21784668-G-A c.8497G>A p.A2833T Missense 51/82 - 2
7-21784668-G-T c.8497G>T p.A2833S Missense 51/82 - 1
7-21784669-C-T c.8498C>T p.A2833V Missense 51/82 - 3
7-21784673-G-A c.8502G>A p.M2834I Missense 51/82 - 1
7-21784673-G-C c.8502G>C p.M2834I Missense 51/82 - 1
7-21784673-G-T c.8502G>T p.M2834I Missense 51/82 - 2
7-21784676-A-G c.8505A>G p.Q2835= Synonymous 51/82 - 1
7-21784677-C-A c.8506C>A p.H2836N Missense 51/82 - 1
7-21784678-A-G c.8507A>G p.H2836R Missense 51/82 - 1
7-21784687-T-G c.8510+6T>G - IntronicSNV - 51/81 1
7-21788202-CGC-TGG c.8515_8517delinsTGG p.R2839W Missense 52/82 - 1
7-21788202-C-T c.8515C>T p.R2839C Missense 52/82 - 3
7-21788208-A-G c.8521A>G p.S2841G Missense 52/82 - 2
7-21788208-A-T c.8521A>T p.S2841C Missense 52/82 - 1
7-21788210-C-T c.8523C>T p.S2841= Synonymous 52/82 - 2
7-21788212-G-A c.8525G>A p.R2842Q Missense 52/82 - 3
7-21788220-C-G c.8533C>G p.R2845G Missense 52/82 - 4
7-21788220-C-T c.8533C>T p.R2845* Nonsense 52/82 - 4
7-21788221-G-A c.8534G>A p.R2845Q Missense 52/82 - 6
7-21788230-A-T c.8543A>T p.Q2848L Missense 52/82 - 2
7-21788231-G-A c.8544G>A p.Q2848= Synonymous 52/82 - 1
7-21788231-G-C c.8544G>C p.Q2848H Missense 52/82 - 1
7-21788231-G-T c.8544G>T p.Q2848H Missense 52/82 - 1
7-21788234-C-A c.8547C>A p.G2849= Synonymous 52/82 - 1
7-21788234-C-G c.8547C>G p.G2849= Synonymous 52/82 - 1
7-21788234-C-T c.8547C>T p.G2849= Synonymous 52/82 - 1
7-21788235-T-C c.8548T>C p.C2850R Missense 52/82 - 1
7-21788236-G-A c.8549G>A p.C2850Y Missense 52/82 - 1
7-21788238-G-A c.8551G>A p.A2851T Missense 52/82 - 2
7-21788238-G-C c.8551G>C p.A2851P Missense 52/82 - 1
7-21788239-C-T c.8552C>T p.A2851V Missense 52/82 - 1
7-21788241-C-T c.8554C>T p.L2852F Missense 52/82 - 3
7-21788242-T-C c.8555T>C p.L2852P Missense 52/82 - 1
7-21788243-C-A c.8556C>A p.L2852= Synonymous 52/82 - 1
7-21788243-C-G c.8556C>G p.L2852= Synonymous 52/82 - 1
7-21788243-C-T c.8556C>T p.L2852= Synonymous 52/82 - 2
7-21788246-G-T c.8559G>T p.L2853F Missense 52/82 - 2
7-21788247-G-C c.8560G>C p.V2854L Missense 52/82 - 1
7-21788248-T-C c.8561T>C p.V2854A Missense 52/82 - 1
7-21788248-T-G c.8561T>G p.V2854G Missense 52/82 - 1
7-21788251-G-T c.8564G>T p.G2855V Missense 52/82 - 1
7-21788254-T-C c.8567T>C p.V2856A Missense 52/82 - 1
7-21788256-G-A c.8569G>A p.G2857R Missense 52/82 - 1
7-21788256-G-C c.8569G>C p.G2857R Missense 52/82 - 1
7-21788257-G-A c.8570G>A p.G2857E Missense 52/82 - 2
7-21788257-G-C c.8570G>C p.G2857A Missense 52/82 - 2
7-21788259-G-A c.8572G>A p.G2858S Missense 52/82 - 2
7-21788260-G-A c.8573G>A p.G2858D Missense 52/82 - 2
7-21788261-C-A c.8574C>A p.G2858= Synonymous 52/82 - 1
7-21788261-C-G c.8574C>G p.G2858= Synonymous 52/82 - 1
7-21788261-C-T c.8574C>T p.G2858= Synonymous 52/82 - 1
7-21788262-AG-CT c.8575_8576inv p.S2859L Missense 52/82 - 1
7-21788263-G-T c.8576G>T p.S2859I Missense 52/82 - 1
7-21788264-T-C c.8577T>C p.S2859= Synonymous 52/82 - 2
7-21788265-G-T c.8578G>T p.G2860C Missense 52/82 - 1
7-21788275-G-T c.8588G>T p.S2863I Missense 52/82 - 1
7-21788276-C-G c.8589C>G p.S2863R Missense 52/82 - 3
7-21788281-C-A c.8594C>A p.S2865Y Missense 52/82 - 2
7-21788282-C-T c.8595C>T p.S2865= Synonymous 52/82 - 1
7-21788284-G-C c.8597G>C p.R2866T Missense 52/82 - 1
7-21788289-G-T c.8602G>T p.A2868S Missense 52/82 - 1
7-21788290-C-A c.8603C>A p.A2868E Missense 52/82 - 1
7-21788297-C-G c.8610C>G p.Y2870* Nonsense 52/82 - 1
7-21788297-C-T c.8610C>T p.Y2870= Synonymous 52/82 - 1
7-21788298-C-G c.8611C>G p.L2871V Missense 52/82 - 1
7-21788299-T-G c.8612T>G p.L2871R Missense 52/82 - 1
7-21788302-G-A c.8615G>A p.R2872H Missense 52/82 - 2
7-21788305-G-A c.8618G>A p.G2873D Missense 52/82 - 1
7-21788314-T-C c.8627T>C p.V2876A Missense 52/82 - 1
7-21788314-T-G c.8627T>G p.V2876G Missense 52/82 - 1
7-21788315-C-A c.8628C>A p.V2876= Synonymous 52/82 - 1
7-21788315-C-G c.8628C>G p.V2876= Synonymous 52/82 - 1
7-21788315-C-T c.8628C>T p.V2876= Synonymous 52/82 - 1
7-21788316-T-G c.8629T>G p.F2877V Missense 52/82 - 1
7-21788319-C-T c.8632C>T p.Q2878* Nonsense 52/82 - 2
7-21788324-C-T c.8637C>T p.I2879= Synonymous 52/82 - 1
7-21788328-C-T c.8641C>T p.L2881= Synonymous 52/82 - 2
7-21788330-G-A c.8643G>A p.L2881= Synonymous 52/82 - 2
7-21788330-G-C c.8643G>C p.L2881= Synonymous 52/82 - 2
7-21788330-G-T c.8643G>T p.L2881= Synonymous 52/82 - 2
7-21788332-C-T c.8645C>T p.T2882I Missense 52/82 - 1
7-21788333-C-A c.8646C>A p.T2882= Synonymous 52/82 - 1
7-21788334-G-T c.8647G>T p.E2883* Nonsense 52/82 - 2
7-21788341-A-G c.8654A>G p.Y2885C Missense 52/82 - 1
7-21788344-G-A c.8657G>A p.G2886E Missense 52/82 - 3
7-21788345-A-G c.8658A>G p.G2886= Synonymous 52/82 - 1
7-21788347-T-G c.8660T>G p.I2887S Missense 52/82 - 1
7-21788349-C-T c.8662C>T p.Q2888* Nonsense 52/82 - 4
7-21788350-A-C c.8663A>C p.Q2888P Missense 52/82 - 1
7-21788352-G-A c.8665G>A p.E2889K Missense 52/82 - 1
7-21788356-T-G c.8669T>G p.L2890R Missense 52/82 - 1
7-21788358-C-T c.8671C>T p.R2891W Missense 52/82 - 5
7-21788359-G-T c.8672G>T p.R2891L Missense 52/82 - 2
7-21789069-A-G c.8674-227A>G - IntronicSNV - 52/81 1
7-21789300-A-T c.8678A>T p.D2893V Missense 53/82 - 1
7-21789308-A-G c.8686A>G p.N2896D Missense 53/82 - 1
7-21789311-TT-AG c.8689_8690delinsAG p.L2897R Missense 53/82 - 1
7-21789311-TTG-CAT c.8689_8691delinsCAT p.L2897H Missense 53/82 - 1
7-21789312-T-A c.8690T>A p.L2897* Nonsense 53/82 - 1
7-21789317-A-T c.8695A>T p.I2899F Missense 53/82 - 1
7-21789319-C-T c.8697C>T p.I2899= Synonymous 53/82 - 1
7-21789320-C-G c.8698C>G p.R2900G Missense 53/82 - 3
7-21789320-C-T c.8698C>T p.R2900* Nonsense 53/82 - 8
7-21789321-G-A c.8699G>A p.R2900Q Missense 53/82 - 4
7-21789323-A-G c.8701A>G p.T2901A Missense 53/82 - 1
7-21789327-G-C c.8705G>C p.G2902A Missense 53/82 - 1
7-21789329-G-A c.8707G>A p.A2903T Missense 53/82 - 1
7-21789330-C-A c.8708C>A p.A2903D Missense 53/82 - 1
7-21789334-G-C c.8712G>C p.K2904N Missense 53/82 - 2
7-21789334-G-T c.8712G>T p.K2904N Missense 53/82 - 1
7-21789341-C-T c.8719C>T p.P2907S Missense 53/82 - 5
7-21789344-A-G c.8722A>G p.T2908A Missense 53/82 - 1
7-21789345-C-T c.8723C>T p.T2908I Missense 53/82 - 3
7-21789347-G-C c.8725G>C p.V2909L Missense 53/82 - 1
7-21789347-G-T c.8725G>T p.V2909L Missense 53/82 - 1
7-21789352-C-T c.8730C>T p.F2910= Synonymous 53/82 - 1
7-21789366-C-T c.8744C>T p.A2915V Missense 53/82 - 1
7-21789367-C-A c.8745C>A p.A2915= Synonymous 53/82 - 1
7-21789367-C-G c.8745C>G p.A2915= Synonymous 53/82 - 1
7-21789367-C-T c.8745C>T p.A2915= Synonymous 53/82 - 1
7-21789365-GC-G c.8746del p.Q2916Rfs*3 Frameshift 53/82 - 1
7-21789368-C-T c.8746C>T p.Q2916* Nonsense 53/82 - 1
7-21789371-G-T c.8749G>T p.V2917F Missense 53/82 - 1
7-21789372-T-C c.8750T>C p.V2917A Missense 53/82 - 1
7-21789377-G-A c.8755G>A p.D2919N Missense 53/82 - 2
7-21789379-T-A c.8757T>A p.D2919E Missense 53/82 - 2
7-21789380-G-A c.8758G>A p.E2920K Missense 53/82 - 1
7-21789384-G-A c.8762G>A p.S2921N Missense 53/82 - 1
7-21789388-C-T c.8766C>T p.F2922= Synonymous 53/82 - 2
7-21789392-G-A c.8770G>A p.V2924M Missense 53/82 - 1
7-21789392-G-C c.8770G>C p.V2924L Missense 53/82 - 1
7-21789392-GTG-TTT c.8770_8772delinsTTT p.V2924F Missense 53/82 - 1
7-21789395-C-A c.8773C>A p.L2925M Missense 53/82 - 1
7-21789396-T-C c.8774T>C p.L2925P Missense 53/82 - 1
7-21789395-C-T c.8773C>T p.L2925= Synonymous 53/82 - 1
7-21789397-G-A c.8775G>A p.L2925= Synonymous 53/82 - 1
7-21789397-G-C c.8775G>C p.L2925= Synonymous 53/82 - 1
7-21789397-G-T c.8775G>T p.L2925= Synonymous 53/82 - 1
7-21789399-T-C c.8777T>C p.I2926T Missense 53/82 - 1
7-21789400-T-G c.8778T>G p.I2926M Missense 53/82 - 2
7-21789402-A-G c.8780A>G p.N2927S Missense 53/82 - 1
7-21789404-G-A c.8782G>A p.D2928N Missense 53/82 - 2
7-21789404-G-T c.8782G>T p.D2928Y Missense 53/82 - 1
7-21789412-G-T c.8790G>T p.L2930= Synonymous 53/82 - 1
7-21789442-T-C c.8797+23T>C - IntronicSNV - 53/81 6
7-21789442-T-G c.8797+23T>G - IntronicSNV - 53/81 4
7-21789835-G-A c.8798-5G>A - IntronicSNV - 53/81 1
7-21789835-G-T c.8798-5G>T - IntronicSNV - 53/81 1
7-21789848-C-G c.8806C>G p.P2936A Missense 54/82 - 3
7-21789848-C-T c.8806C>T p.P2936S Missense 54/82 - 2
7-21789851-G-T c.8809G>T p.D2937Y Missense 54/82 - 2
7-21789857-T-C c.8815T>C p.F2939L Missense 54/82 - 1
7-21789859-C-A c.8817C>A p.F2939L Missense 54/82 - 1
7-21789859-C-G c.8817C>G p.F2939L Missense 54/82 - 2
7-21789860-A-G c.8818A>G p.S2940G Missense 54/82 - 1
7-21789863-G-T c.8821G>T p.D2941Y Missense 54/82 - 1
7-21789869-G-A c.8827G>A p.D2943N Missense 54/82 - 1
7-21789874-G-A c.8832G>A p.V2944= Synonymous 54/82 - 1
7-21789874-G-C c.8832G>C p.V2944= Synonymous 54/82 - 1
7-21789874-G-T c.8832G>T p.V2944= Synonymous 54/82 - 1
7-21789877-C-A c.8835C>A p.D2945E Missense 54/82 - 1
7-21789880-G-A c.8838G>A p.K2946= Synonymous 54/82 - 1
7-21789891-G-T c.8849G>T p.G2950V Missense 54/82 - 1
7-21789896-C-T c.8854C>T p.H2952Y Missense 54/82 - 2
7-21789902-G-A c.8860G>A p.E2954K Missense 54/82 - 1
7-21789906-T-C c.8864T>C p.V2955A Missense 54/82 - 1
7-21789908-C-T c.8866C>T p.H2956Y Missense 54/82 - 3
7-21789916-G-A c.8874G>A p.L2958= Synonymous 54/82 - 1
7-21789916-G-T c.8874G>T p.L2958= Synonymous 54/82 - 1
7-21789921-T-C c.8879T>C p.M2960T Missense 54/82 - 1
7-21789926-G-A c.8884G>A p.D2962N Missense 54/82 - 1
7-21789926-G-C c.8884G>C p.D2962H Missense 54/82 - 2
7-21789930-C-A c.8888C>A p.S2963Y Missense 54/82 - 5
7-21789930-C-G c.8888C>G p.S2963C Missense 54/82 - 1
7-21789935-G-A c.8893G>A p.E2965K Missense 54/82 - 6
7-21789945-G-A c.8903G>A p.W2968* Nonsense 54/82 - 3
7-21789952-C-A c.8910C>A p.F2970L Missense 54/82 - 1
7-21789952-C-G c.8910C>G p.F2970L Missense 54/82 - 1
7-21789952-C-T c.8910C>T p.F2970= Synonymous 54/82 - 2
7-21789958-G-A c.8916G>A p.M2972I Missense 54/82 - 1
7-21789958-G-C c.8916G>C p.M2972I Missense 54/82 - 1
7-21789958-G-T c.8916G>T p.M2972I Missense 54/82 - 1
7-21789960-C-T c.8918C>T p.A2973V Missense 54/82 - 4
7-21789962-A-C c.8920A>C p.R2974= Synonymous 54/82 - 1
7-21789964-G-A c.8922G>A p.R2974= Synonymous 54/82 - 2
7-21789968-C-T c.8926C>T p.R2976* Nonsense 54/82 - 2
7-21789969-G-A c.8927G>A p.R2976Q Missense 54/82 - 3
7-21789974-C-A c.8932C>A p.Q2978K Missense 54/82 - 1
7-21789981-A-G c.8939A>G p.K2980R Missense 54/82 - 1
7-21789992-A-C c.8940+10A>C - IntronicSNV - 54/81 1
7-21789992-A-G c.8940+10A>G - IntronicSNV - 54/81 1
7-21790076-C-T c.8940+94C>T - IntronicSNV - 54/81 1
7-21799921-G-A c.8941-5125G>A - IntronicSNV - 54/81 1
7-21801878-A-G c.8941-3168A>G - IntronicSNV - 54/81 1
7-21804852-G-A c.8941-194G>A - IntronicSNV - 54/81 1
7-21804852-G-T c.8941-194G>T - IntronicSNV - 54/81 1
7-21805062-C-G c.8957C>G p.S2986C Missense 55/82 - 1
7-21805064-C-T c.8959C>T p.P2987S Missense 55/82 - 3
7-21805067-G-C c.8962G>C p.V2988L Missense 55/82 - 1
7-21805070-G-A c.8965G>A p.G2989S Missense 55/82 - 1
7-21805073-C-A c.8968C>A p.R2990S Missense 55/82 - 1
7-21805073-C-T c.8968C>T p.R2990C Missense 55/82 - 1
7-21805074-G-A c.8969G>A p.R2990H Missense 55/82 - 4
7-21805074-G-T c.8969G>T p.R2990L Missense 55/82 - 1
7-21805077-C-A c.8972C>A p.T2991K Missense 55/82 - 1
7-21805077-C-T c.8972C>T p.T2991M Missense 55/82 - 1
7-21805078-G-A c.8973G>A p.T2991= Synonymous 55/82 - 1
7-21805078-G-C c.8973G>C p.T2991= Synonymous 55/82 - 1
7-21805078-G-T c.8973G>T p.T2991= Synonymous 55/82 - 1
7-21805082-AG-CT c.8977_8978inv p.R2993L Missense 55/82 - 1
7-21805083-G-A c.8978G>A p.R2993K Missense 55/82 - 2
7-21805094-C-T c.8989C>T p.R2997W Missense 55/82 - 2
7-21805095-G-A c.8990G>A p.R2997Q Missense 55/82 - 16
7-21805095-G-C c.8990G>C p.R2997P Missense 55/82 - 4
7-21805099-G-A c.8994G>A p.K2998= Synonymous 55/82 - 1
7-21805099-G-C c.8994G>C p.K2998N Missense 55/82 - 1
7-21805102-C-T c.8997C>T p.F2999= Synonymous 55/82 - 1
7-21805118-T-C c.9013T>C p.C3005R Missense 55/82 - 1
7-21805120-C-G c.9015C>G p.C3005W Missense 55/82 - 1
7-21805122-C-T c.9017C>T p.T3006M Missense 55/82 - 6
7-21805123-G-A c.9018G>A p.T3006= Synonymous 55/82 - 1
7-21805124-G-A c.9019G>A p.A3007T Missense 55/82 - 2
7-21805127-A-G c.9022A>G p.I3008V Missense 55/82 - 1
7-21805130-G-T c.9025G>T p.D3009Y Missense 55/82 - 1
7-21805134-G-T c.9029G>T p.W3010L Missense 55/82 - 1
7-21805140-A-G c.9035A>G p.H3012R Missense 55/82 - 1
7-21805142-G-A c.9037G>A p.A3013T Missense 55/82 - 3
7-21805143-C-A c.9038C>A p.A3013E Missense 55/82 - 1
7-21805143-C-T c.9038C>T p.A3013V Missense 55/82 - 5
7-21805148-C-T c.9043C>T p.P3015S Missense 55/82 - 5
7-21805150-G-A c.9045G>A p.P3015= Synonymous 55/82 - 3
7-21805150-G-C c.9045G>C p.P3015= Synonymous 55/82 - 2
7-21805150-G-T c.9045G>T p.P3015= Synonymous 55/82 - 2
7-21805156-G-C c.9051G>C p.E3017D Missense 55/82 - 4
7-21805156-G-T c.9051G>T p.E3017D Missense 55/82 - 4
7-21805157-G-A c.9052G>A p.A3018T Missense 55/82 - 1
7-21805160-C-A c.9055C>A p.L3019M Missense 55/82 - 1
7-21805160-CTG-TTT c.9055_9057delinsTTT p.L3019F Missense 55/82 - 1
7-21805168-C-A c.9063C>A p.S3021= Synonymous 55/82 - 1
7-21805168-C-G c.9063C>G p.S3021= Synonymous 55/82 - 1
7-21805168-C-T c.9063C>T p.S3021= Synonymous 55/82 - 1
7-21805173-G-A c.9068G>A p.S3023N Missense 55/82 - 3
7-21805177-G-A c.9072G>A p.R3024= Synonymous 55/82 - 2
7-21805179-G-A c.9074G>A p.R3025K Missense 55/82 - 2
7-21805182-T-A c.9077T>A p.F3026Y Missense 55/82 - 2
7-21805184-A-C c.9079A>C p.I3027L Missense 55/82 - 2
7-21805188-A-G c.9083A>G p.E3028G Missense 55/82 - 1
7-21805189-G-A c.9084G>A p.E3028= Synonymous 55/82 - 1
7-21805192-A-C c.9087A>C p.E3029D Missense 55/82 - 1
7-21805194-C-A c.9089C>A p.T3030N Missense 55/82 - 1
7-21805200-G-A c.9095G>A p.G3032E Missense 55/82 - 1
7-21805202-A-C c.9097A>C p.I3033L Missense 55/82 - 1
7-21805202-A-G c.9097A>G p.I3033V Missense 55/82 - 5
7-21805203-T-C c.9098T>C p.I3033T Missense 55/82 - 4
7-21805205-G-A c.9100G>A p.E3034K Missense 55/82 - 3
7-21805215-G-A c.9102+8G>A - IntronicSNV - 55/81 2
7-21805227-G-A c.9102+20G>A - IntronicSNV - 55/81 3
7-21805227-G-T c.9102+20G>T - IntronicSNV - 55/81 1
7-21805228-T-TCAGA c.9102+23_9102+24insGACA - IntronicInsertion - 55/81 1
7-21805228-T-TCAGACA c.9102+23_9102+24insGACACA - IntronicInsertion - 55/81 1
7-21805228-T-TCAGACACA c.9102+23_9102+24insGACACACA - IntronicInsertion - 55/81 1
7-21805228-T-TCAGACACACA c.9102+23_9102+24insGACACACACA - IntronicInsertion - 55/81 1
7-21805228-T-TCAGACACACACA c.9102+23_9102+24insGACACACACACA - IntronicInsertion - 55/81 1
7-21805228-T-TCAGACACACACACA c.9102+23_9102+24insGACACACACACACA - IntronicInsertion - 55/81 1
7-21805228-T-TCAGACACACACACACA c.9102+23_9102+24insGACACACACACACACA - IntronicInsertion - 55/81 1
7-21805228-T-TCAGACACACACACACACA c.9102+23_9102+24insGACACACACACACACACA - IntronicInsertion - 55/81 1
7-21805229-C-CAG c.9102+23_9102+24insGA - IntronicInsertion - 55/81 1
7-21805238-A-AAC c.9102+31_9102+32insAC - IntronicInsertion - 55/81 1
7-21805228-TCACACACACACACACACA-T c.9102+53_9102+70del - IntronicDeletion - 55/81 2
7-21805228-TCACACACACACA-T c.9102+59_9102+70del - IntronicDeletion - 55/81 2
7-21805228-TCACA-T c.9102+67_9102+70del - IntronicDeletion - 55/81 1
7-21805388-A-G c.9102+181A>G - IntronicSNV - 55/81 1
7-21805419-C-G c.9102+212C>G - IntronicSNV - 55/81 1
7-21807178-C-T c.9102+1971C>T - IntronicSNV - 55/81 2
7-21811941-G-A c.9103-1443G>A - IntronicSNV - 55/81 1
7-21811952-T-TG c.9103-1432_9103-1431insG - IntronicInsertion - 55/81 1
7-21812043-G-T c.9103-1341G>T - IntronicSNV - 55/81 1
7-21813318-A-ATT c.9103-59_9103-58dup - IntronicInsertion - 55/81 3
7-21813318-A-AT c.9103-58dup - IntronicInsertion - 55/81 3
7-21813383-GC-G c.9104del p.P3035Qfs*18 Frameshift 56/82 - 1
7-21813389-G-T c.9108G>T p.V3036= Synonymous 56/82 - 1
7-21813391-A-G c.9110A>G p.H3037R Missense 56/82 - 1
7-21813392-CAAAG-C c.9113_9116del p.K3038Tfs*14 Frameshift 56/82 - 2
7-21813396-G-C c.9115G>C p.D3039H Missense 56/82 - 1
7-21813396-G-T c.9115G>T p.D3039Y Missense 56/82 - 1
7-21813397-A-G c.9116A>G p.D3039G Missense 56/82 - 1
7-21813400-C-A c.9119C>A p.S3040Y Missense 56/82 - 1
7-21813400-C-G c.9119C>G p.S3040C Missense 56/82 - 2
7-21813406-G-A c.9125G>A p.S3042N Missense 56/82 - 1
7-21813413-C-A c.9132C>A p.F3044L Missense 56/82 - 1
7-21813413-C-T c.9132C>T p.F3044= Synonymous 56/82 - 2
7-21813416-G-A c.9135G>A p.M3045I Missense 56/82 - 1
7-21813417-G-A c.9136G>A p.A3046T Missense 56/82 - 1
7-21813432-A-G c.9151A>G p.T3051A Missense 56/82 - 1
7-21813433-C-T c.9152C>T p.T3051I Missense 56/82 - 1
7-21813433-CT-TG c.9152_9153delinsTG p.T3051M Missense 56/82 - 1
7-21813434-T-A c.9153T>A p.T3051= Synonymous 56/82 - 1
7-21813434-T-C c.9153T>C p.T3051= Synonymous 56/82 - 1
7-21813434-T-G c.9153T>G p.T3051= Synonymous 56/82 - 1
7-21813435-G-A c.9154G>A p.V3052I Missense 56/82 - 1
7-21813441-G-C c.9160G>C p.E3054Q Missense 56/82 - 4
7-21813442-A-G c.9161A>G p.E3054G Missense 56/82 - 1
7-21813446-G-A c.9165G>A p.M3055I Missense 56/82 - 1
7-21813446-G-C c.9165G>C p.M3055I Missense 56/82 - 1
7-21813446-G-T c.9165G>T p.M3055I Missense 56/82 - 1
7-21813447-A-G c.9166A>G p.S3056G Missense 56/82 - 3
7-21813452-C-A c.9171C>A p.T3057= Synonymous 56/82 - 1
7-21813463-A-G c.9182A>G p.Q3061R Missense 56/82 - 1
7-21813468-G-A c.9187G>A p.E3063K Missense 56/82 - 2
7-21813469-A-G c.9188A>G p.E3063G Missense 56/82 - 1
7-21813470-G-A c.9189G>A p.E3063= Synonymous 56/82 - 1
7-21813471-A-G c.9190A>G p.R3064G Missense 56/82 - 1
7-21813472-G-A c.9191G>A p.R3064K Missense 56/82 - 2
7-21813473-A-C c.9192A>C p.R3064S Missense 56/82 - 1
7-21813473-A-T c.9192A>T p.R3064S Missense 56/82 - 1
7-21813479-C-A c.9198C>A p.H3066Q Missense 56/82 - 1
7-21813479-C-G c.9198C>G p.H3066Q Missense 56/82 - 2
7-21813481-A-G c.9200A>G p.N3067S Missense 56/82 - 1
7-21813482-C-A c.9201C>A p.N3067K Missense 56/82 - 1
7-21813482-C-G c.9201C>G p.N3067K Missense 56/82 - 1
7-21813484-A-G c.9203A>G p.Y3068C Missense 56/82 - 1
7-21813487-C-T c.9206C>T p.T3069I Missense 56/82 - 3
7-21813490-C-T c.9209C>T p.T3070I Missense 56/82 - 2
7-21813491-C-T c.9210C>T p.T3070= Synonymous 56/82 - 2
7-21813492-C-A c.9211C>A p.P3071T Missense 56/82 - 1
7-21813497-G-A c.9216G>A p.K3072= Synonymous 56/82 - 1
7-21813499-G-T c.9218G>T p.S3073I Missense 56/82 - 1
7-21813507-G-A c.9226G>A p.E3076K Missense 56/82 - 2
7-21813517-C-A c.9236C>A p.S3079* Nonsense 56/82 - 3
7-21813517-C-G c.9236C>G p.S3079* Nonsense 56/82 - 2
7-21813517-C-T c.9236C>T p.S3079L Missense 56/82 - 4
7-21813519-C-A c.9238C>A p.L3080M Missense 56/82 - 1
7-21813520-T-G c.9239T>G p.L3080R Missense 56/82 - 1
7-21813522-T-C c.9241T>C p.F3081L Missense 56/82 - 1
7-21813525-TAA-T c.9244_9245del p.K3082Efs*9 Frameshift 56/82 - 1
7-21813531-C-A c.9250C>A p.L3084M Missense 56/82 - 1
7-21813531-C-T c.9250C>T p.L3084= Synonymous 56/82 - 1
7-21813533-G-A c.9252G>A p.L3084= Synonymous 56/82 - 1
7-21813533-G-C c.9252G>C p.L3084= Synonymous 56/82 - 1
7-21813533-G-T c.9252G>T p.L3084= Synonymous 56/82 - 1
7-21813534-T-C c.9253T>C p.L3085= Synonymous 56/82 - 2
7-21813536-G-A c.9255G>A p.L3085= Synonymous 56/82 - 2
7-21813541-A-G c.9260A>G p.K3087R Missense 56/82 - 2
7-21813535-TGAA-T c.9262_9264del p.K3088del InFrameDeletion 56/82 - 1
7-21813547-A-G c.9266A>G p.Q3089R Missense 56/82 - 1
7-21813546-C-CA c.9269dup p.N3090Kfs*2 Frameshift 56/82 - 2
7-21813550-A-G c.9269A>G p.N3090S Missense 56/82 - 1
7-21813555-G-A c.9274G>A p.V3092I Missense 56/82 - 2
7-21813556-T-C c.9275T>C p.V3092A Missense 56/82 - 3
7-21813559-C-A c.9278C>A p.S3093Y Missense 56/82 - 3
7-21813560-C-A c.9279C>A p.S3093= Synonymous 56/82 - 3
7-21813560-C-G c.9279C>G p.S3093= Synonymous 56/82 - 3
7-21813560-C-T c.9279C>T p.S3093= Synonymous 56/82 - 4
7-21813561-G-A c.9280G>A p.E3094K Missense 56/82 - 2
7-21813563-G-C c.9282G>C p.E3094D Missense 56/82 - 1
7-21813563-G-T c.9282G>T p.E3094D Missense 56/82 - 1
7-21813570-AG-A c.9289del p.E3097Nfs*4 Frameshift 56/82 - 2
7-21813570-G-A c.9289G>A p.E3097K Missense 56/82 - 1
7-21813573-C-T c.9292C>T p.R3098C Missense 56/82 - 3
7-21813574-G-A c.9293G>A p.R3098H Missense 56/82 - 1
7-21813585-G-A c.9304G>A p.G3102S Missense 56/82 - 4
7-21813586-G-A c.9305G>A p.G3102D Missense 56/82 - 3
7-21813604-C-G c.9323C>G p.T3108S Missense 56/82 - 1
7-21813605-C-T c.9324C>T p.T3108= Synonymous 56/82 - 1
7-21813606-A-T c.9325A>T p.T3109S Missense 56/82 - 2
7-21813611-C-T c.9330C>T p.A3110= Synonymous 56/82 - 1
7-21813622-G-C c.9336+5G>C - IntronicSNV - 56/81 1
7-21818323-T-C c.9337-253T>C - IntronicSNV - 56/81 2
7-21818486-A-G c.9337-90A>G - IntronicSNV - 56/81 5
7-21818486-A-T c.9337-90A>T - IntronicSNV - 56/81 5
7-21818551-G-A c.9337-25G>A - IntronicSNV - 56/81 1
7-21818551-G-C c.9337-25G>C - IntronicSNV - 56/81 1
7-21818579-G-T c.9340G>T p.G3114* Nonsense 57/82 - 1
7-21818582-G-A c.9343G>A p.D3115N Missense 57/82 - 1
7-21818583-A-C c.9344A>C p.D3115A Missense 57/82 - 1
7-21818585-C-A c.9346C>A p.L3116I Missense 57/82 - 1
7-21818585-C-T c.9346C>T p.L3116= Synonymous 57/82 - 1
7-21818595-G-A c.9356G>A p.R3119K Missense 57/82 - 3
7-21818597-C-A c.9358C>A p.L3120I Missense 57/82 - 1
7-21818598-T-C c.9359T>C p.L3120P Missense 57/82 - 1
7-21818600-G-T c.9361G>T p.A3121S Missense 57/82 - 1
7-21818601-C-A c.9362C>A p.A3121D Missense 57/82 - 1
7-21818604-C-G c.9365C>G p.S3122C Missense 57/82 - 3
7-21818615-G-A c.9376G>A p.E3126K Missense 57/82 - 2
7-21818617-G-C c.9378G>C p.E3126D Missense 57/82 - 2
7-21818618-C-A c.9379C>A p.L3127M Missense 57/82 - 1
7-21818619-T-C c.9380T>C p.L3127P Missense 57/82 - 1
7-21818619-T-G c.9380T>G p.L3127R Missense 57/82 - 2
7-21818628-G-A c.9389G>A p.R3130K Missense 57/82 - 2
7-21818631-A-G c.9392A>G p.N3131S Missense 57/82 - 1
7-21818633-C-T c.9394C>T p.H3132Y Missense 57/82 - 6
7-21818636-G-A c.9397G>A p.D3133N Missense 57/82 - 1
7-21818639-G-T c.9400G>T p.A3134S Missense 57/82 - 1
7-21818641-C-A c.9402C>A p.A3134= Synonymous 57/82 - 1
7-21818641-C-G c.9402C>G p.A3134= Synonymous 57/82 - 2
7-21818641-C-T c.9402C>T p.A3134= Synonymous 57/82 - 2
7-21818642-G-A c.9403G>A p.E3135K Missense 57/82 - 3
7-21818646-C-T c.9407C>T p.A3136V Missense 57/82 - 3
7-21818656-A-C c.9417A>C p.T3139= Synonymous 57/82 - 2
7-21818656-A-G c.9417A>G p.T3139= Synonymous 57/82 - 2
7-21818656-A-T c.9417A>T p.T3139= Synonymous 57/82 - 2
7-21818658-A-C c.9419A>C p.K3140T Missense 57/82 - 1
7-21818663-G-A c.9424G>A p.G3142S Missense 57/82 - 1
7-21818665-C-A c.9426C>A p.G3142= Synonymous 57/82 - 1
7-21818665-C-G c.9426C>G p.G3142= Synonymous 57/82 - 1
7-21818665-C-T c.9426C>T p.G3142= Synonymous 57/82 - 1
7-21818669-C-G c.9430C>G p.Q3144E Missense 57/82 - 1
7-21818670-A-T c.9431A>T p.Q3144L Missense 57/82 - 1
7-21818673-C-A c.9434C>A p.T3145K Missense 57/82 - 1
7-21818673-C-T c.9434C>T p.T3145M Missense 57/82 - 2
7-21818674-G-A c.9435G>A p.T3145= Synonymous 57/82 - 3
7-21818674-G-C c.9435G>C p.T3145= Synonymous 57/82 - 1
7-21818674-G-T c.9435G>T p.T3145= Synonymous 57/82 - 1
7-21818675-G-A c.9436G>A p.E3146K Missense 57/82 - 3
7-21818675-G-C c.9436G>C p.E3146Q Missense 57/82 - 1
7-21818675-G-T c.9436G>T p.E3146* Nonsense 57/82 - 1
7-21818679-A-C c.9440A>C p.K3147T Missense 57/82 - 1
7-21818681-G-C c.9442G>C p.V3148L Missense 57/82 - 1
7-21818683-G-A c.9444G>A p.V3148= Synonymous 57/82 - 2
7-21818683-G-C c.9444G>C p.V3148= Synonymous 57/82 - 2
7-21818683-G-T c.9444G>T p.V3148= Synonymous 57/82 - 2
7-21818686-C-G c.9447C>G p.S3149R Missense 57/82 - 1
7-21818687-C-A c.9448C>A p.R3150= Synonymous 57/82 - 1
7-21818687-C-T c.9448C>T p.R3150W Missense 57/82 - 2
7-21818689-G-A c.9450G>A p.R3150= Synonymous 57/82 - 1
7-21818689-G-C c.9450G>C p.R3150= Synonymous 57/82 - 1
7-21818689-G-T c.9450G>T p.R3150= Synonymous 57/82 - 1
7-21818688-G-A c.9449G>A p.R3150Q Missense 57/82 - 3
7-21818690-G-A c.9451G>A p.E3151K Missense 57/82 - 2
7-21818696-A-T c.9457A>T p.T3153S Missense 57/82 - 2
7-21818697-C-G c.9458C>G p.T3153S Missense 57/82 - 2
7-21818701-C-A c.9462C>A p.I3154= Synonymous 57/82 - 1
7-21818701-C-T c.9462C>T p.I3154= Synonymous 57/82 - 1
7-21818707-T-A c.9468T>A p.D3156E Missense 57/82 - 1
7-21818707-T-C c.9468T>C p.D3156= Synonymous 57/82 - 3
7-21818709-C-T c.9470C>T p.A3157V Missense 57/82 - 2
7-21818711-G-A c.9472G>A p.E3158K Missense 57/82 - 4
7-21818711-G-C c.9472G>C p.E3158Q Missense 57/82 - 1
7-21818712-AG-A c.9475del p.E3159Sfs*4 Frameshift 57/82 - 1
7-21818717-C-A c.9478C>A p.R3160= Synonymous 57/82 - 1
7-21818719-A-C c.9480A>C p.R3160= Synonymous 57/82 - 1
7-21818719-A-G c.9480A>G p.R3160= Synonymous 57/82 - 1
7-21818719-A-T c.9480A>T p.R3160= Synonymous 57/82 - 1
7-21818718-G-A c.9479G>A p.R3160Q Missense 57/82 - 2
7-21818850-A-G c.9483+128A>G - IntronicSNV - 57/81 2
7-21818989-A-C c.9483+267A>C - IntronicSNV - 57/81 1
7-21819000-T-C c.9483+278T>C - IntronicSNV - 57/81 1
7-21819000-T-G c.9483+278T>G - IntronicSNV - 57/81 1
7-21819545-C-A c.9483+823C>A - IntronicSNV - 57/81 11
7-21819545-C-T c.9483+823C>T - IntronicSNV - 57/81 11
7-21821011-C-T c.9483+2289C>T - IntronicSNV - 57/81 1
7-21823862-G-T c.9484-183G>T - IntronicSNV - 57/81 2
7-21824040-A-G c.9484-5A>G - IntronicSNV - 57/81 1
7-21824040-A-T c.9484-5A>T - IntronicSNV - 57/81 1
7-21824045-G-A c.9484G>A p.V3162M Missense 58/82 - 1
7-21824045-GTG-ATC c.9484_9486delinsATC p.V3162I Missense 58/82 - 1
7-21824048-A-G c.9487A>G p.T3163A Missense 58/82 - 2
7-21824053-C-A c.9492C>A p.A3164= Synonymous 58/82 - 1
7-21824053-C-G c.9492C>G p.A3164= Synonymous 58/82 - 1
7-21824053-C-T c.9492C>T p.A3164= Synonymous 58/82 - 1
7-21824058-A-G c.9497A>G p.Q3166R Missense 58/82 - 1
7-21824063-G-C c.9502G>C p.E3168Q Missense 58/82 - 1
7-21824066-G-T c.9505G>T p.V3169L Missense 58/82 - 2
7-21824069-T-C c.9508T>C p.F3170L Missense 58/82 - 1
7-21824071-C-A c.9510C>A p.F3170L Missense 58/82 - 1
7-21824071-C-G c.9510C>G p.F3170L Missense 58/82 - 1
7-21824074-G-GT c.9513_9514insT p.K3172* Nonsense 58/82 - 1
7-21824077-A-G c.9516A>G p.K3172= Synonymous 58/82 - 1
7-21824080-G-C c.9519G>C p.Q3173H Missense 58/82 - 1
7-21824080-G-T c.9519G>T p.Q3173H Missense 58/82 - 1
7-21824090-G-A c.9529G>A p.E3177K Missense 58/82 - 1
7-21824100-T-A c.9539T>A p.L3180* Nonsense 58/82 - 2
7-21824106-A-T c.9545A>T p.K3182M Missense 58/82 - 1
7-21824115-C-T c.9554C>T p.P3185L Missense 58/82 - 1
7-21824120-C-G c.9559C>G p.L3187V Missense 58/82 - 1
7-21824120-C-T c.9559C>T p.L3187= Synonymous 58/82 - 2
7-21824122-G-A c.9561G>A p.L3187= Synonymous 58/82 - 9
7-21824122-G-C c.9561G>C p.L3187= Synonymous 58/82 - 9
7-21824122-G-T c.9561G>T p.L3187= Synonymous 58/82 - 2
7-21824123-G-A c.9562G>A p.V3188M Missense 58/82 - 1
7-21824133-C-A c.9572C>A p.T3191K Missense 58/82 - 1
7-21824133-C-T c.9572C>T p.T3191I Missense 58/82 - 1
7-21824135-G-A c.9574G>A p.A3192T Missense 58/82 - 1
7-21824136-C-A c.9575C>A p.A3192D Missense 58/82 - 1
7-21824143-C-A c.9582C>A p.L3194= Synonymous 58/82 - 5
7-21824143-C-G c.9582C>G p.L3194= Synonymous 58/82 - 5
7-21824143-C-T c.9582C>T p.L3194= Synonymous 58/82 - 5
7-21824145-A-G c.9584A>G p.N3195S Missense 58/82 - 2
7-21824156-A-C c.9595A>C p.R3199= Synonymous 58/82 - 1
7-21824158-G-A c.9597G>A p.R3199= Synonymous 58/82 - 1
7-21824244-C-A c.9597+86C>A - IntronicSNV - 58/81 2
7-21824244-C-T c.9597+86C>T - IntronicSNV - 58/81 2
7-21824245-C-A c.9597+87C>A - IntronicSNV - 58/81 1
7-21824306-C-T c.9597+148C>T - IntronicSNV - 58/81 2
7-21826035-C-T c.9598-207C>T - IntronicSNV - 58/81 1
7-21826073-C-A c.9598-169C>A - IntronicSNV - 58/81 1
7-21826073-C-G c.9598-169C>G - IntronicSNV - 58/81 1
7-21826199-G-A c.9598-43G>A - IntronicSNV - 58/81 5
7-21826199-G-C c.9598-43G>C - IntronicSNV - 58/81 5
7-21826199-G-T c.9598-43G>T - IntronicSNV - 58/81 5
7-21826242-G-T c.9598G>T p.V3200F Missense 59/82 - 1
7-21826243-T-C c.9599T>C p.V3200A Missense 59/82 - 1
7-21826246-A-C c.9602A>C p.N3201T Missense 59/82 - 2
7-21826246-A-G c.9602A>G p.N3201S Missense 59/82 - 1
7-21826250-C-A c.9606C>A p.L3202= Synonymous 59/82 - 1
7-21826250-C-G c.9606C>G p.L3202= Synonymous 59/82 - 1
7-21826250-C-T c.9606C>T p.L3202= Synonymous 59/82 - 1
7-21826257-C-G c.9613C>G p.L3205V Missense 59/82 - 1
7-21826257-C-T c.9613C>T p.L3205= Synonymous 59/82 - 2
7-21826259-G-A c.9615G>A p.L3205= Synonymous 59/82 - 2
7-21826259-G-C c.9615G>C p.L3205= Synonymous 59/82 - 2
7-21826259-G-T c.9615G>T p.L3205= Synonymous 59/82 - 2
7-21826261-A-G c.9617A>G p.K3206R Missense 59/82 - 2
7-21826263-G-A c.9619G>A p.A3207T Missense 59/82 - 4
7-21826264-C-G c.9620C>G p.A3207G Missense 59/82 - 2
7-21826264-C-T c.9620C>T p.A3207V Missense 59/82 - 2
7-21826266-T-C c.9622T>C p.F3208L Missense 59/82 - 1
7-21826268-T-A c.9624T>A p.F3208L Missense 59/82 - 1
7-21826268-T-G c.9624T>G p.F3208L Missense 59/82 - 1
7-21826269-C-T c.9625C>T p.P3209S Missense 59/82 - 7
7-21826271-C-T c.9627C>T p.P3209= Synonymous 59/82 - 1
7-21826273-A-G c.9629A>G p.N3210S Missense 59/82 - 1
7-21826275-C-T c.9631C>T p.P3211S Missense 59/82 - 1
7-21826276-C-T c.9632C>T p.P3211L Missense 59/82 - 1
7-21826279-C-A c.9635C>A p.P3212H Missense 59/82 - 1
7-21826279-C-T c.9635C>T p.P3212L Missense 59/82 - 1
7-21826280-C-A c.9636C>A p.P3212= Synonymous 59/82 - 1
7-21826280-C-G c.9636C>G p.P3212= Synonymous 59/82 - 1
7-21826280-C-T c.9636C>T p.P3212= Synonymous 59/82 - 1
7-21826283-C-T c.9639C>T p.I3213= Synonymous 59/82 - 1
7-21826284-G-A c.9640G>A p.A3214T Missense 59/82 - 3
7-21826286-A-G c.9642A>G p.A3214= Synonymous 59/82 - 1
7-21826299-A-G c.9655A>G p.T3219A Missense 59/82 - 1
7-21826302-GC-CT c.9658_9659delinsCT p.A3220L Missense 59/82 - 1
7-21826303-C-T c.9659C>T p.A3220V Missense 59/82 - 1
7-21826305-G-A c.9661G>A p.A3221T Missense 59/82 - 1
7-21826306-C-T c.9662C>T p.A3221V Missense 59/82 - 3
7-21826308-G-A c.9664G>A p.V3222M Missense 59/82 - 1
7-21826308-G-C c.9664G>C p.V3222L Missense 59/82 - 1
7-21826309-T-C c.9665T>C p.V3222A Missense 59/82 - 1
7-21826310-G-C c.9666G>C p.V3222= Synonymous 59/82 - 1
7-21826313-G-C c.9669G>C p.M3223I Missense 59/82 - 1
7-21826313-G-T c.9669G>T p.M3223I Missense 59/82 - 2
7-21826314-G-C c.9670G>C p.V3224L Missense 59/82 - 1
7-21826324-C-T c.9680C>T p.A3227V Missense 59/82 - 3
7-21826326-CC-TT c.9682_9683delinsTT p.P3228F Missense 59/82 - 1
7-21826326-C-T c.9682C>T p.P3228S Missense 59/82 - 1
7-21826327-C-T c.9683C>T p.P3228L Missense 59/82 - 2
7-21826329-C-T c.9685C>T p.R3229W Missense 59/82 - 1
7-21826330-G-A c.9686G>A p.R3229Q Missense 59/82 - 1
7-21826330-G-C c.9686G>C p.R3229P Missense 59/82 - 1
7-21826333-G-A c.9689G>A p.G3230E Missense 59/82 - 3
7-21826335-AGA-TGT c.9691_9693delinsTGT p.R3231C Missense 59/82 - 1
7-21826344-A-G c.9700A>G p.K3234E Missense 59/82 - 1
7-21826345-A-G c.9701A>G p.K3234R Missense 59/82 - 1
7-21826347-G-A c.9703G>A p.D3235N Missense 59/82 - 1
7-21826348-A-T c.9704A>T p.D3235V Missense 59/82 - 1
7-21826349-C-T c.9705C>T p.D3235= Synonymous 59/82 - 2
7-21826350-CGA-TGG c.9706_9708delinsTGG p.R3236W Missense 59/82 - 1
7-21826350-C-T c.9706C>T p.R3236* Nonsense 59/82 - 3
7-21826351-G-A c.9707G>A p.R3236Q Missense 59/82 - 2
7-21826353-A-C c.9709A>C p.S3237R Missense 59/82 - 1
7-21826356-T-A c.9712T>A p.W3238R Missense 59/82 - 3
7-21826356-T-C c.9712T>C p.W3238R Missense 59/82 - 3
7-21826357-G-A c.9713G>A p.W3238* Nonsense 59/82 - 3
7-21826358-G-A c.9714G>A p.W3238* Nonsense 59/82 - 4
7-21826362-G-C c.9718G>C p.A3240P Missense 59/82 - 1
7-21826365-G-A c.9721G>A p.A3241T Missense 59/82 - 1
7-21826373-C-A c.9729C>A p.V3243= Synonymous 59/82 - 1
7-21826373-C-G c.9729C>G p.V3243= Synonymous 59/82 - 1
7-21826373-C-T c.9729C>T p.V3243= Synonymous 59/82 - 1
7-21826376-C-T c.9732C>T p.F3244= Synonymous 59/82 - 1
7-21826377-A-G c.9733A>G p.M3245V Missense 59/82 - 1
7-21826379-G-A c.9735G>A p.M3245I Missense 59/82 - 1
7-21826380-G-A c.9736G>A p.G3246R Missense 59/82 - 1
7-21826380-GGA-TGT c.9736_9738delinsTGT p.G3246C Missense 59/82 - 1
7-21826381-G-C c.9737G>C p.G3246A Missense 59/82 - 1
7-21826407-A-G c.9741+22A>G - IntronicSNV - 59/81 1
7-21826562-G-T c.9741+177G>T - IntronicSNV - 59/81 1
7-21826642-C-A c.9741+257C>A - IntronicSNV - 59/81 1
7-21826643-A-G c.9741+258A>G - IntronicSNV - 59/81 1
7-21826645-T-C c.9741+260T>C - IntronicSNV - 59/81 1
7-21826867-A-C c.9742-152A>C - IntronicSNV - 59/81 1
7-21827019-G-A c.9742G>A p.V3248I Missense 60/82 - 1
7-21827019-G-T c.9742G>T p.V3248F Missense 60/82 - 1
7-21827022-G-A c.9745G>A p.D3249N Missense 60/82 - 1
7-21827025-G-A c.9748G>A p.D3250N Missense 60/82 - 4
7-21827026-A-AT c.9755dup p.L3252Ffs*6 Frameshift 60/82 - 1
7-21827034-C-A c.9757C>A p.Q3253K Missense 60/82 - 2
7-21827038-C-T c.9761C>T p.A3254V Missense 60/82 - 1
7-21827041-T-C c.9764T>C p.L3255S Missense 60/82 - 2
7-21827042-A-T c.9765A>T p.L3255F Missense 60/82 - 1
7-21827045-T-C c.9768T>C p.I3256= Synonymous 60/82 - 1
7-21827048-C-G c.9771C>G p.N3257K Missense 60/82 - 1
7-21827049-T-C c.9772T>C p.Y3258H Missense 60/82 - 3
7-21827053-A-G c.9776A>G p.D3259G Missense 60/82 - 1
7-21827060-G-C c.9783G>C p.E3261D Missense 60/82 - 4
7-21827060-G-T c.9783G>T p.E3261D Missense 60/82 - 3
7-21827064-A-G c.9787A>G p.I3263V Missense 60/82 - 3
7-21827067-C-T c.9790C>T p.P3264S Missense 60/82 - 2
7-21827070-G-A c.9793G>A p.E3265K Missense 60/82 - 3
7-21827070-G-C c.9793G>C p.E3265Q Missense 60/82 - 1
7-21827071-A-G c.9794A>G p.E3265G Missense 60/82 - 1
7-21827072-G-T c.9795G>T p.E3265D Missense 60/82 - 1
7-21827074-A-G c.9797A>G p.N3266S Missense 60/82 - 1
7-21827088-G-A c.9811G>A p.V3271M Missense 60/82 - 1
7-21827094-G-A c.9817G>A p.E3273K Missense 60/82 - 1
7-21827094-G-T c.9817G>T p.E3273* Nonsense 60/82 - 1
7-21827095-A-C c.9818A>C p.E3273A Missense 60/82 - 2
7-21827097-C-G c.9820C>G p.H3274D Missense 60/82 - 1
7-21827101-A-G c.9824A>G p.Y3275C Missense 60/82 - 1
7-21827103-T-C c.9826T>C p.L3276= Synonymous 60/82 - 1
7-21827105-G-A c.9828G>A p.L3276= Synonymous 60/82 - 1
7-21827109-G-A c.9832G>A p.D3278N Missense 60/82 - 1
7-21827111-C-T c.9834C>T p.D3278= Synonymous 60/82 - 1
7-21827115-G-C c.9838G>C p.E3280Q Missense 60/82 - 1
7-21827121-A-C c.9844A>C p.N3282H Missense 60/82 - 1
7-21827122-A-T c.9845A>T p.N3282I Missense 60/82 - 3
7-21827124-C-A c.9847C>A p.P3283T Missense 60/82 - 2
7-21827129-ACCT-A c.9852_9854del p.N3284_L3285delinsK MultiAAMissense 60/82 - 1
7-21827130-C-T c.9853C>T p.L3285= Synonymous 60/82 - 1
7-21827133-A-T c.9856A>T p.I3286F Missense 60/82 - 1
7-21827136-C-T c.9859C>T p.R3287* Nonsense 60/82 - 3
7-21827136-TCGAACCAAATCTTTTGCA-T c.9859_9876del p.R3287_A3292del InFrameDeletion 60/82 - 1
7-21827137-G-A c.9860G>A p.R3287Q Missense 60/82 - 1
7-21827139-A-G c.9862A>G p.T3288A Missense 60/82 - 1
7-21827139-A-T c.9862A>T p.T3288S Missense 60/82 - 1
7-21827140-C-G c.9863C>G p.T3288S Missense 60/82 - 1
7-21827143-A-T c.9866A>T p.K3289I Missense 60/82 - 1
7-21827146-C-G c.9869C>G p.S3290C Missense 60/82 - 1
7-21827146-C-T c.9869C>T p.S3290F Missense 60/82 - 2
7-21827147-T-G c.9870T>G p.S3290= Synonymous 60/82 - 2
7-21827157-G-A c.9880G>A p.A3294T Missense 60/82 - 1
7-21827157-G-C c.9880G>C p.A3294P Missense 60/82 - 1
7-21827158-C-G c.9881C>G p.A3294G Missense 60/82 - 1
7-21827165-G-A c.9888G>A p.L3296= Synonymous 60/82 - 1
7-21827191-A-C c.9914A>C p.K3305T Missense 60/82 - 1
7-21827193-T-C c.9916T>C p.F3306L Missense 60/82 - 1
7-21827195-C-A c.9918C>A p.F3306L Missense 60/82 - 1
7-21827195-C-G c.9918C>G p.F3306L Missense 60/82 - 1
7-21827194-T-A c.9917T>A p.F3306Y Missense 60/82 - 1
7-21827194-T-G c.9917T>G p.F3306C Missense 60/82 - 1
7-21827195-C-T c.9918C>T p.F3306= Synonymous 60/82 - 1
7-21827197-A-G c.9920A>G p.Y3307C Missense 60/82 - 1
7-21827199-G-A c.9922G>A p.E3308K Missense 60/82 - 3
7-21827201-G-A c.9924G>A p.E3308= Synonymous 60/82 - 1
7-21827358-A-G c.9924+157A>G - IntronicSNV - 60/81 2
7-21828080-C-T c.9925-779C>T - IntronicSNV - 60/81 1
7-21828743-T-TA c.9925-109dup - IntronicInsertion - 60/81 2
7-21828864-C-T c.9930C>T p.Y3310= Synonymous 61/82 - 1
7-21828866-G-A c.9932G>A p.C3311Y Missense 61/82 - 1
7-21828869-A-T c.9935A>T p.D3312V Missense 61/82 - 4
7-21828870-T-A c.9936T>A p.D3312E Missense 61/82 - 1
7-21828870-T-G c.9936T>G p.D3312E Missense 61/82 - 1
7-21828871-G-A c.9937G>A p.V3313M Missense 61/82 - 1
7-21828872-T-G c.9938T>G p.V3313G Missense 61/82 - 1
7-21828875-A-G c.9941A>G p.E3314G Missense 61/82 - 1
7-21828876-G-A c.9942G>A p.E3314= Synonymous 61/82 - 1
7-21828883-C-T c.9949C>T p.R3317C Missense 61/82 - 1
7-21828889-G-A c.9955G>A p.A3319T Missense 61/82 - 2
7-21828889-G-T c.9955G>T p.A3319S Missense 61/82 - 1
7-21828895-G-A c.9961G>A p.A3321T Missense 61/82 - 1
7-21828895-G-T c.9961G>T p.A3321S Missense 61/82 - 1
7-21828897-C-T c.9963C>T p.A3321= Synonymous 61/82 - 1
7-21828904-A-T c.9970A>T p.N3324Y Missense 61/82 - 1
7-21828909-A-C c.9975A>C p.L3325F Missense 61/82 - 1
7-21828909-A-T c.9975A>T p.L3325F Missense 61/82 - 1
7-21828913-C-A c.9979C>A p.L3327M Missense 61/82 - 1
7-21828938-A-T c.10004A>T p.E3335V Missense 61/82 - 1
7-21828940-G-T c.10006G>T p.A3336S Missense 61/82 - 2
7-21828941-C-T c.10007C>T p.A3336V Missense 61/82 - 1
7-21828942-T-A c.10008T>A p.A3336= Synonymous 61/82 - 1
7-21828942-T-C c.10008T>C p.A3336= Synonymous 61/82 - 1
7-21828942-T-G c.10008T>G p.A3336= Synonymous 61/82 - 1
7-21828945-C-T c.10011C>T p.I3337= Synonymous 61/82 - 1
7-21828946-A-T c.10012A>T p.R3338W Missense 61/82 - 1
7-21828948-G-A c.10014G>A p.R3338= Synonymous 61/82 - 1
7-21828953-A-C c.10019A>C p.K3340T Missense 61/82 - 1
7-21829128-TGC-T c.10026+168_10026+169del - IntronicDeletion - 61/81 1
7-21829423-C-T c.10026+463C>T - IntronicSNV - 61/81 1
7-21830407-G-A c.10026+1447G>A - IntronicSNV - 61/81 1
7-21831310-G-A c.10026+2350G>A - IntronicSNV - 61/81 1
7-21839249-C-T c.10027-1506C>T - IntronicSNV - 61/81 1
7-21840760-G-A c.10032G>A p.L3344= Synonymous 62/82 - 1
7-21840763-T-G c.10035T>G p.D3345E Missense 62/82 - 1
7-21840764-C-T c.10036C>T p.R3346* Nonsense 62/82 - 4
7-21840765-G-A c.10037G>A p.R3346Q Missense 62/82 - 8
7-21840769-T-A c.10041T>A p.N3347K Missense 62/82 - 1
7-21840770-C-T c.10042C>T p.L3348= Synonymous 62/82 - 1
7-21840772-G-A c.10044G>A p.L3348= Synonymous 62/82 - 1
7-21840772-G-C c.10044G>C p.L3348= Synonymous 62/82 - 1
7-21840772-G-T c.10044G>T p.L3348= Synonymous 62/82 - 1
7-21840776-A-T c.10048A>T p.R3350* Nonsense 62/82 - 1
7-21840783-C-A c.10055C>A p.T3352K Missense 62/82 - 1
7-21840783-C-T c.10055C>T p.T3352M Missense 62/82 - 5
7-21840785-G-A c.10057G>A p.A3353T Missense 62/82 - 3
7-21840787-T-A c.10059T>A p.A3353= Synonymous 62/82 - 3
7-21840787-T-C c.10059T>C p.A3353= Synonymous 62/82 - 3
7-21840787-T-G c.10059T>G p.A3353= Synonymous 62/82 - 3
7-21840789-C-T c.10061C>T p.S3354L Missense 62/82 - 2
7-21840792-T-C c.10064T>C p.F3355S Missense 62/82 - 1
7-21840794-G-C c.10066G>C p.E3356Q Missense 62/82 - 1
7-21840803-A-G c.10075A>G p.T3359A Missense 62/82 - 1
7-21840804-CA-TG c.10076_10077inv p.T3359M Missense 62/82 - 2
7-21840809-G-A c.10081G>A p.E3361K Missense 62/82 - 1
7-21840813-A-C c.10085A>C p.K3362T Missense 62/82 - 1
7-21840818-CGG-AGC c.10090_10092delinsAGC p.R3364S Missense 62/82 - 1
7-21840818-C-T c.10090C>T p.R3364W Missense 62/82 - 3
7-21840819-G-T c.10091G>T p.R3364L Missense 62/82 - 1
7-21840821-T-G c.10093T>G p.C3365G Missense 62/82 - 1
7-21840821-TG-AC c.10093_10094delinsAC p.C3365T Missense 62/82 - 1
7-21840822-G-A c.10094G>A p.C3365Y Missense 62/82 - 1
7-21840829-A-G c.10101A>G p.E3367= Synonymous 62/82 - 1
7-21840830-G-T c.10102G>T p.E3368* Nonsense 62/82 - 1
7-21840832-G-A c.10104G>A p.E3368= Synonymous 62/82 - 2
7-21840832-G-C c.10104G>C p.E3368D Missense 62/82 - 1
7-21840839-C-G c.10111C>G p.Q3371E Missense 62/82 - 1
7-21840839-C-T c.10111C>T p.Q3371* Nonsense 62/82 - 1
7-21840845-A-C c.10117A>C p.N3373H Missense 62/82 - 1
7-21840846-A-G c.10118A>G p.N3373S Missense 62/82 - 1
7-21840849-A-G c.10121A>G p.K3374R Missense 62/82 - 1
7-21840856-C-A c.10128C>A p.I3376= Synonymous 62/82 - 2
7-21840856-C-G c.10128C>G p.I3376M Missense 62/82 - 1
7-21840856-C-T c.10128C>T p.I3376= Synonymous 62/82 - 2
7-21840857-A-C c.10129A>C p.K3377Q Missense 62/82 - 1
7-21840867-A-G c.10139A>G p.N3380S Missense 62/82 - 1
7-21840868-C-T c.10140C>T p.N3380= Synonymous 62/82 - 2
7-21840872-C-T c.10144C>T p.L3382F Missense 62/82 - 2
7-21840877-C-G c.10149C>G p.V3383= Synonymous 62/82 - 1
7-21840879-A-C c.10151A>C p.K3384T Missense 62/82 - 1
7-21840881-G-A c.10153G>A p.E3385K Missense 62/82 - 3
7-21840884-C-G c.10156C>G p.L3386V Missense 62/82 - 4
7-21840887-G-C c.10159G>C p.E3387Q Missense 62/82 - 3
7-21840890-G-A c.10162G>A p.A3388T Missense 62/82 - 1
7-21840947-G-A c.10165+54G>A - IntronicSNV - 62/81 1
7-21840980-T-A c.10165+87T>A - IntronicSNV - 62/81 1
7-21847457-A-G c.10166-44A>G - IntronicSNV - 62/81 6
7-21847502-G-A c.10167G>A p.K3389= Synonymous 63/82 - 2
7-21847506-A-G c.10171A>G p.I3391V Missense 63/82 - 3
7-21847506-A-T c.10171A>T p.I3391F Missense 63/82 - 1
7-21847509-C-G c.10174C>G p.R3392G Missense 63/82 - 1
7-21847509-C-T c.10174C>T p.R3392C Missense 63/82 - 2
7-21847510-G-A c.10175G>A p.R3392H Missense 63/82 - 2
7-21847510-G-T c.10175G>T p.R3392L Missense 63/82 - 1
7-21847515-G-C c.10180G>C p.G3394R Missense 63/82 - 1
7-21847516-G-A c.10181G>A p.G3394D Missense 63/82 - 1
7-21847518-C-T c.10183C>T p.Q3395* Nonsense 63/82 - 2
7-21847522-C-T c.10187C>T p.S3396F Missense 63/82 - 3
7-21847523-C-T c.10188C>T p.S3396= Synonymous 63/82 - 1
7-21847526-T-C c.10191T>C p.I3397= Synonymous 63/82 - 2
7-21847537-A-G c.10202A>G p.E3401G Missense 63/82 - 2
7-21847542-C-G c.10207C>G p.Q3403E Missense 63/82 - 3
7-21847543-A-C c.10208A>C p.Q3403P Missense 63/82 - 1
7-21847543-A-G c.10208A>G p.Q3403R Missense 63/82 - 1
7-21847554-C-G c.10219C>G p.L3407V Missense 63/82 - 1
7-21847560-G-A c.10225G>A p.G3409R Missense 63/82 - 1
7-21847563-G-A c.10228G>A p.D3410N Missense 63/82 - 2
7-21847572-C-T c.10237C>T p.L3413F Missense 63/82 - 1
7-21847574-C-T c.10239C>T p.L3413= Synonymous 63/82 - 1
7-21847576-C-G c.10241C>G p.T3414R Missense 63/82 - 1
7-21847576-C-T c.10241C>T p.T3414M Missense 63/82 - 3
7-21847577-G-A c.10242G>A p.T3414= Synonymous 63/82 - 1
7-21847577-G-C c.10242G>C p.T3414= Synonymous 63/82 - 1
7-21847579-C-T c.10244C>T p.A3415V Missense 63/82 - 3
7-21847584-T-C c.10249T>C p.F3417L Missense 63/82 - 1
7-21847584-T-G c.10249T>G p.F3417V Missense 63/82 - 4
7-21847591-C-T c.10256C>T p.S3419F Missense 63/82 - 3
7-21847594-A-C c.10259A>C p.Y3420S Missense 63/82 - 1
7-21847595-C-T c.10260C>T p.Y3420= Synonymous 63/82 - 2
7-21847596-G-A c.10261G>A p.V3421I Missense 63/82 - 1
7-21847598-C-A c.10263C>A p.V3421= Synonymous 63/82 - 2
7-21847598-C-G c.10263C>G p.V3421= Synonymous 63/82 - 2
7-21847598-C-T c.10263C>T p.V3421= Synonymous 63/82 - 2
7-21847599-G-A c.10264G>A p.G3422R Missense 63/82 - 7
7-21847599-G-C c.10264G>C p.G3422R Missense 63/82 - 2
7-21847603-C-T c.10268C>T p.P3423L Missense 63/82 - 2
7-21847604-C-CT c.10271dup p.T3425Hfs*38 Frameshift 63/82 - 1
7-21847609-C-A c.10274C>A p.T3425K Missense 63/82 - 1
7-21847615-A-T c.10280A>T p.Q3427L Missense 63/82 - 1
7-21847620-C-A c.10285C>A p.R3429S Missense 63/82 - 2
7-21847620-C-T c.10285C>T p.R3429C Missense 63/82 - 4
7-21847621-G-A c.10286G>A p.R3429H Missense 63/82 - 2
7-21847621-G-T c.10286G>T p.R3429L Missense 63/82 - 3
7-21847621-GC-G c.10288del p.Q3430Rfs*20 Frameshift 63/82 - 1
7-21847624-CA-C c.10289del p.Q3430Rfs*20 Frameshift 63/82 - 1
7-21847630-T-G c.10295T>G p.L3432R Missense 63/82 - 1
7-21847631-G-A c.10296G>A p.L3432= Synonymous 63/82 - 1
7-21847632-G-C c.10297G>C p.V3433L Missense 63/82 - 1
7-21847632-G-T c.10297G>T p.V3433L Missense 63/82 - 1
7-21847634-G-A c.10299G>A p.V3433= Synonymous 63/82 - 1
7-21847634-G-C c.10299G>C p.V3433= Synonymous 63/82 - 1
7-21847634-G-T c.10299G>T p.V3433= Synonymous 63/82 - 2
7-21847636-A-T c.10301A>T p.H3434L Missense 63/82 - 1
7-21847638-T-G c.10303T>G p.C3435G Missense 63/82 - 1
7-21847638-TG-AC c.10303_10304delinsAC p.C3435T Missense 63/82 - 1
7-21847650-C-T c.10315C>T p.P3439S Missense 63/82 - 1
7-21847651-C-T c.10316C>T p.P3439L Missense 63/82 - 1
7-21847659-C-T c.10324C>T p.Q3442* Nonsense 63/82 - 2
7-21847663-A-G c.10328A>G p.Q3443R Missense 63/82 - 1
7-21847663-A-T c.10328A>T p.Q3443L Missense 63/82 - 1
7-21847668-G-A c.10332+1G>A - IntronicSNV - 63/81 1
7-21848651-ACCAG-A c.10332+986_10332+989del - IntronicDeletion - 63/81 1
7-21856085-G-A c.10333G>A p.V3445I Missense 64/82 - 2
7-21856091-A-G c.10339A>G p.I3447V Missense 64/82 - 1
7-21856092-T-C c.10340T>C p.I3447T Missense 64/82 - 1
7-21856095-C-A c.10343C>A p.P3448Q Missense 64/82 - 4
7-21856102-C-A c.10350C>A p.T3450= Synonymous 64/82 - 3
7-21856102-C-G c.10350C>G p.T3450= Synonymous 64/82 - 4
7-21856102-C-T c.10350C>T p.T3450= Synonymous 64/82 - 4
7-21856103-G-A c.10351G>A p.E3451K Missense 64/82 - 4
7-21856106-G-C c.10354G>C p.G3452R Missense 64/82 - 1
7-21856107-G-A c.10355G>A p.G3452D Missense 64/82 - 1
7-21856122-C-G c.10370C>G p.S3457C Missense 64/82 - 1
7-21856123-C-T c.10371C>T p.S3457= Synonymous 64/82 - 1
7-21856125-T-A c.10373T>A p.M3458K Missense 64/82 - 1
7-21856131-C-A c.10379C>A p.T3460K Missense 64/82 - 5
7-21856131-C-T c.10379C>T p.T3460M Missense 64/82 - 2
7-21856132-G-A c.10380G>A p.T3460= Synonymous 64/82 - 3
7-21856132-G-C c.10380G>C p.T3460= Synonymous 64/82 - 2
7-21856132-G-T c.10380G>T p.T3460= Synonymous 64/82 - 2
7-21856133-G-C c.10381G>C p.D3461H Missense 64/82 - 1
7-21856135-T-A c.10383T>A p.D3461E Missense 64/82 - 3
7-21856135-T-G c.10383T>G p.D3461E Missense 64/82 - 3
7-21856138-T-C c.10386T>C p.D3462= Synonymous 64/82 - 1
7-21856142-A-G c.10390A>G p.T3464A Missense 64/82 - 1
7-21856143-C-T c.10391C>T p.T3464I Missense 64/82 - 2
7-21856145-A-G c.10393A>G p.I3465V Missense 64/82 - 1
7-21856148-G-A c.10396G>A p.A3466T Missense 64/82 - 1
7-21856149-C-T c.10397C>T p.A3466V Missense 64/82 - 1
7-21856151-G-A c.10399G>A p.A3467T Missense 64/82 - 31
7-21856151-G-T c.10399G>T p.A3467S Missense 64/82 - 11
7-21856153-C-A c.10401C>A p.A3467= Synonymous 64/82 - 1
7-21856153-C-G c.10401C>G p.A3467= Synonymous 64/82 - 1
7-21856153-C-T c.10401C>T p.A3467= Synonymous 64/82 - 1
7-21856158-A-G c.10406A>G p.N3469S Missense 64/82 - 1
7-21856160-A-G c.10408A>G p.N3470D Missense 64/82 - 1
7-21856162-C-G c.10410C>G p.N3470K Missense 64/82 - 1
7-21856163-G-A c.10411G>A p.E3471K Missense 64/82 - 5
7-21856163-G-T c.10411G>T p.E3471* Nonsense 64/82 - 1
7-21856167-G-A c.10415G>A p.G3472E Missense 64/82 - 1
7-21856176-G-A c.10424G>A p.S3475N Missense 64/82 - 2
7-21856175-A-C c.10423A>C p.S3475R Missense 64/82 - 1
7-21856179-A-T c.10427A>T p.D3476V Missense 64/82 - 1
7-21856193-G-A c.10441G>A p.E3481K Missense 64/82 - 7
7-21856200-C-T c.10448C>T p.A3483V Missense 64/82 - 3
7-21856201-C-A c.10449C>A p.A3483= Synonymous 64/82 - 2
7-21856201-C-G c.10449C>G p.A3483= Synonymous 64/82 - 2
7-21856201-C-T c.10449C>T p.A3483= Synonymous 64/82 - 3
7-21856206-T-C c.10454T>C p.I3485T Missense 64/82 - 1
7-21856207-C-A c.10455C>A p.I3485= Synonymous 64/82 - 1
7-21856207-C-T c.10455C>T p.I3485= Synonymous 64/82 - 2
7-21856208-C-A c.10456C>A p.L3486I Missense 64/82 - 1
7-21856220-G-A c.10468G>A p.E3490K Missense 64/82 - 1
7-21856223-C-T c.10471C>T p.R3491C Missense 64/82 - 3
7-21856224-G-A c.10472G>A p.R3491H Missense 64/82 - 7
7-21856232-C-T c.10480C>T p.L3494= Synonymous 64/82 - 1
7-21856234-G-A c.10482G>A p.L3494= Synonymous 64/82 - 1
7-21856234-G-C c.10482G>C p.L3494= Synonymous 64/82 - 1
7-21856234-G-T c.10482G>T p.L3494= Synonymous 64/82 - 1
7-21856240-A-G c.10488A>G p.I3496M Missense 64/82 - 1
7-21856244-C-T c.10492C>T p.P3498S Missense 64/82 - 2
7-21856245-C-T c.10493C>T p.P3498L Missense 64/82 - 1
7-21856246-C-A c.10494C>A p.P3498= Synonymous 64/82 - 1
7-21856247-C-T c.10495C>T p.Q3499* Nonsense 64/82 - 1
7-21856248-A-C c.10496A>C p.Q3499P Missense 64/82 - 1
7-21856256-G-A c.10504G>A p.G3502R Missense 64/82 - 2
7-21856257-G-A c.10505G>A p.G3502E Missense 64/82 - 5
7-21856263-A-C c.10511A>C p.K3504T Missense 64/82 - 1
7-21856264-G-C c.10512G>C p.K3504N Missense 64/82 - 1
7-21856264-G-T c.10512G>T p.K3504N Missense 64/82 - 1
7-21856267-G-T c.10515G>T p.W3505C Missense 64/82 - 1
7-21856273-G-C c.10521G>C p.K3507N Missense 64/82 - 2
7-21856273-G-T c.10521G>T p.K3507N Missense 64/82 - 2
7-21856283-G-A c.10531G>A p.G3511R Missense 64/82 - 1
7-21856286-A-G c.10534A>G p.M3512V Missense 64/82 - 1
7-21856288-G-A c.10536G>A p.M3512I Missense 64/82 - 3
7-21856289-G-A c.10537G>A p.D3513N Missense 64/82 - 1
7-21856293-T-A c.10541T>A p.L3514Q Missense 64/82 - 1
7-21856292-C-T c.10540C>T p.L3514= Synonymous 64/82 - 1
7-21856294-G-A c.10542G>A p.L3514= Synonymous 64/82 - 2
7-21856294-G-C c.10542G>C p.L3514= Synonymous 64/82 - 1
7-21856294-G-T c.10542G>T p.L3514= Synonymous 64/82 - 1
7-21856298-G-A c.10546G>A p.V3516I Missense 64/82 - 1
7-21856304-C-G c.10552C>G p.H3518D Missense 64/82 - 1
7-21856304-C-T c.10552C>T p.H3518Y Missense 64/82 - 1
7-21856305-A-G c.10553A>G p.H3518R Missense 64/82 - 1
7-21856309-G-A c.10557G>A p.L3519= Synonymous 64/82 - 2
7-21856310-G-A c.10558G>A p.G3520S Missense 64/82 - 1
7-21856310-G-T c.10558G>T p.G3520C Missense 64/82 - 1
7-21856315-G-A c.10563G>A p.Q3521= Synonymous 64/82 - 4
7-21856321-G-A c.10568+1G>A - IntronicSNV - 64/81 1
7-21856390-G-A c.10568+70G>A - IntronicSNV - 64/81 3
7-21857776-A-T c.10569-59A>T - IntronicSNV - 64/81 3
7-21857833-A-G c.10569-2A>G - IntronicSNV - 64/81 1
7-21857835-G-T c.10569G>T p.G3523= Synonymous 65/82 - 1
7-21857838-T-G c.10572T>G p.F3524L Missense 65/82 - 1
7-21857841-G-C c.10575G>C p.L3525F Missense 65/82 - 1
7-21857845-G-A c.10579G>A p.A3527T Missense 65/82 - 2
7-21857849-T-C c.10583T>C p.I3528T Missense 65/82 - 1
7-21857857-G-A c.10591G>A p.A3531T Missense 65/82 - 1
7-21857859-T-A c.10593T>A p.A3531= Synonymous 65/82 - 1
7-21857862-G-C c.10596G>C p.L3532F Missense 65/82 - 3
7-21857862-G-T c.10596G>T p.L3532F Missense 65/82 - 2
7-21857864-C-G c.10598C>G p.A3533G Missense 65/82 - 1
7-21857865-C-T c.10599C>T p.A3533= Synonymous 65/82 - 1
7-21857868-T-C c.10602T>C p.F3534= Synonymous 65/82 - 1
7-21857870-G-A c.10604G>A p.G3535D Missense 65/82 - 1
7-21857876-T-C c.10610T>C p.V3537A Missense 65/82 - 1
7-21857878-A-T c.10612A>T p.I3538F Missense 65/82 - 1
7-21857880-C-T c.10614C>T p.I3538= Synonymous 65/82 - 1
7-21857884-A-G c.10618A>G p.I3540V Missense 65/82 - 1
7-21857887-G-A c.10621G>A p.E3541K Missense 65/82 - 1
7-21857893-C-A c.10627C>A p.L3543I Missense 65/82 - 1
7-21857893-C-G c.10627C>G p.L3543V Missense 65/82 - 1
7-21857893-C-T c.10627C>T p.L3543F Missense 65/82 - 2
7-21857895-C-A c.10629C>A p.L3543= Synonymous 65/82 - 1
7-21857895-C-G c.10629C>G p.L3543= Synonymous 65/82 - 1
7-21857895-C-T c.10629C>T p.L3543= Synonymous 65/82 - 2
7-21857896-G-A c.10630G>A p.E3544K Missense 65/82 - 1
7-21857897-A-G c.10631A>G p.E3544G Missense 65/82 - 1
7-21857898-G-T c.10632G>T p.E3544D Missense 65/82 - 1
7-21857901-A-T c.10635A>T p.E3545D Missense 65/82 - 1
7-21857902-A-C c.10636A>C p.T3546P Missense 65/82 - 1
7-21857903-C-T c.10637C>T p.T3546M Missense 65/82 - 4
7-21857904-G-A c.10638G>A p.T3546= Synonymous 65/82 - 3
7-21857905-A-C c.10639A>C p.I3547L Missense 65/82 - 1
7-21857905-A-G c.10639A>G p.I3547V Missense 65/82 - 1
7-21857905-A-T c.10639A>T p.I3547L Missense 65/82 - 2
7-21857907-A-G c.10641A>G p.I3547M Missense 65/82 - 1
7-21857908-G-A c.10642G>A p.D3548N Missense 65/82 - 1
7-21857910-T-C c.10644T>C p.D3548= Synonymous 65/82 - 1
7-21857914-G-C c.10648G>C p.V3550L Missense 65/82 - 1
7-21857917-C-G c.10651C>G p.L3551V Missense 65/82 - 1
7-21857918-T-C c.10652T>C p.L3551P Missense 65/82 - 1
7-21857919-G-T c.10653G>T p.L3551= Synonymous 65/82 - 1
7-21857920-G-A c.10654G>A p.D3552N Missense 65/82 - 1
7-21857920-G-T c.10654G>T p.D3552Y Missense 65/82 - 1
7-21857923-C-G c.10657C>G p.P3553A Missense 65/82 - 1
7-21857929-C-A c.10663C>A p.L3555I Missense 65/82 - 1
7-21857932-G-T c.10666G>T p.G3556C Missense 65/82 - 1
7-21857935-AGG-CAT c.10669_10671delinsCAT p.R3557H Missense 65/82 - 1
7-21857935-A-C c.10669A>C p.R3557= Synonymous 65/82 - 2
7-21857937-G-A c.10671G>A p.R3557= Synonymous 65/82 - 2
7-21857948-A-C c.10682A>C p.K3561T Missense 65/82 - 1
7-21857949-A-AT c.10683_10684insT p.K3562* Nonsense 65/82 - 1
7-21857953-G-A c.10687G>A p.G3563R Missense 65/82 - 1
7-21857953-G-C c.10687G>C p.G3563R Missense 65/82 - 1
7-21857953-GG-AA c.10687_10688delinsAA p.G3563K Missense 65/82 - 2
7-21857957-A-G c.10691A>G p.K3564R Missense 65/82 - 3
7-21857959-T-C c.10691+2T>C - IntronicSNV - 65/81 2
7-21857959-T-G c.10691+2T>G - IntronicSNV - 65/81 1
7-21857965-T-C c.10691+8T>C - IntronicSNV - 65/81 1
7-21858043-A-G c.10691+86A>G - IntronicSNV - 65/81 3
7-21858180-G-A c.10691+223G>A - IntronicSNV - 65/81 1
7-21858181-G-A c.10691+224G>A - IntronicSNV - 65/81 1
7-21858218-G-A c.10691+261G>A - IntronicSNV - 65/81 1
7-21858218-G-T c.10691+261G>T - IntronicSNV - 65/81 1
7-21859436-A-C c.10691+1479A>C - IntronicSNV - 65/81 1
7-21859436-A-T c.10691+1479A>T - IntronicSNV - 65/81 1
7-21860121-G-A c.10691+2164G>A - IntronicSNV - 65/81 1
7-21860121-G-C c.10691+2164G>C - IntronicSNV - 65/81 1
7-21861028-G-A c.10691+3071G>A - IntronicSNV - 65/81 1
7-21861028-G-C c.10691+3071G>C - IntronicSNV - 65/81 1
7-21861103-A-C c.10691+3146A>C - IntronicSNV - 65/81 1
7-21861103-A-G c.10691+3146A>G - IntronicSNV - 65/81 1
7-21861112-C-T c.10691+3155C>T - IntronicSNV - 65/81 1
7-21861132-C-A c.10691+3175C>A - IntronicSNV - 65/81 1
7-21861211-A-T c.10691+3254A>T - IntronicSNV - 65/81 1
7-21862891-TC-T c.10691+4940del - IntronicDeletion - 65/81 1
7-21863203-C-A c.10691+5246C>A - IntronicSNV - 65/81 1
7-21867898-T-C c.10691+9941T>C - IntronicSNV - 65/81 1
7-21868356-CT-C c.10691+10409del - IntronicDeletion - 65/81 1
7-21882164-A-T c.10694A>T p.Y3565F Missense 66/82 - 1
7-21882167-T-A c.10697T>A p.I3566N Missense 66/82 - 1
7-21882168-C-T c.10698C>T p.I3566= Synonymous 66/82 - 1
7-21882170-G-A c.10700G>A p.R3567K Missense 66/82 - 4
7-21882171-G-C c.10701G>C p.R3567S Missense 66/82 - 5
7-21882171-G-T c.10701G>T p.R3567S Missense 66/82 - 5
7-21882173-T-A c.10703T>A p.I3568N Missense 66/82 - 2
7-21882175-G-C c.10705G>C p.G3569R Missense 66/82 - 1
7-21882177-A-C c.10707A>C p.G3569= Synonymous 66/82 - 1
7-21882177-A-G c.10707A>G p.G3569= Synonymous 66/82 - 1
7-21882177-A-T c.10707A>T p.G3569= Synonymous 66/82 - 1
7-21882181-A-G c.10711A>G p.K3571E Missense 66/82 - 2
7-21882182-A-C c.10712A>C p.K3571T Missense 66/82 - 1
7-21882184-G-A c.10714G>A p.E3572K Missense 66/82 - 2
7-21882184-G-T c.10714G>T p.E3572* Nonsense 66/82 - 4
7-21882185-A-C c.10715A>C p.E3572A Missense 66/82 - 1
7-21882185-A-G c.10715A>G p.E3572G Missense 66/82 - 1
7-21882188-G-A c.10718G>A p.C3573Y Missense 66/82 - 1
7-21882190-G-A c.10720G>A p.E3574K Missense 66/82 - 2
7-21882194-T-A c.10724T>A p.F3575Y Missense 66/82 - 1
7-21882201-G-C c.10731G>C p.K3577N Missense 66/82 - 1
7-21882201-G-T c.10731G>T p.K3577N Missense 66/82 - 1
7-21882205-T-A c.10735T>A p.F3579I Missense 66/82 - 1
7-21882205-T-G c.10735T>G p.F3579V Missense 66/82 - 2
7-21882208-C-T c.10738C>T p.R3580C Missense 66/82 - 4
7-21882209-G-A c.10739G>A p.R3580H Missense 66/82 - 12
7-21882210-C-G c.10740C>G p.R3580= Synonymous 66/82 - 1
7-21882211-C-A c.10741C>A p.L3581I Missense 66/82 - 1
7-21882216-C-G c.10746C>G p.I3582M Missense 66/82 - 1
7-21882220-C-A c.10750C>A p.H3584N Missense 66/82 - 1
7-21882226-A-G c.10756A>G p.K3586E Missense 66/82 - 1
7-21882228-A-T c.10758A>T p.K3586N Missense 66/82 - 1
7-21882229-T-G c.10759T>G p.L3587V Missense 66/82 - 1
7-21882238-C-G c.10768C>G p.P3590A Missense 66/82 - 1
7-21882244-T-C c.10774T>C p.Y3592H Missense 66/82 - 4
7-21882245-A-G c.10775A>G p.Y3592C Missense 66/82 - 2
7-21882249-G-A c.10779G>A p.K3593= Synonymous 66/82 - 2
7-21882249-G-C c.10779G>C p.K3593N Missense 66/82 - 1
7-21882249-G-T c.10779G>T p.K3593N Missense 66/82 - 1
7-21882252-G-A c.10782G>A p.P3594= Synonymous 66/82 - 2
7-21882253-G-A c.10783G>A p.E3595K Missense 66/82 - 7
7-21882259-C-T c.10789C>T p.Q3597* Nonsense 66/82 - 1
7-21882266-A-G c.10796A>G p.Q3599R Missense 66/82 - 1
7-21882269-C-T c.10799C>T p.T3600I Missense 66/82 - 1
7-21882272-C-T c.10802C>T p.T3601I Missense 66/82 - 2
7-21882282-T-A c.10812T>A p.N3604K Missense 66/82 - 3
7-21882287-C-A c.10817C>A p.T3606K Missense 66/82 - 1
7-21882287-C-T c.10817C>T p.T3606I Missense 66/82 - 1
7-21882295-G-A c.10825G>A p.E3609K Missense 66/82 - 1
7-21882299-A-T c.10829A>T p.D3610V Missense 66/82 - 3
7-21882301-G-A c.10831G>A p.G3611S Missense 66/82 - 1
7-21882303-T-A c.10833T>A p.G3611= Synonymous 66/82 - 1
7-21882304-C-A c.10834C>A p.L3612I Missense 66/82 - 1
7-21882304-C-T c.10834C>T p.L3612= Synonymous 66/82 - 2
7-21882306-A-C c.10836A>C p.L3612= Synonymous 66/82 - 1
7-21882306-A-G c.10836A>G p.L3612= Synonymous 66/82 - 1
7-21882306-A-T c.10836A>T p.L3612= Synonymous 66/82 - 1
7-21882311-C-A c.10841C>A p.A3614D Missense 66/82 - 1
7-21882311-C-T c.10841C>T p.A3614V Missense 66/82 - 1
7-21882319-C-T c.10849C>T p.L3617= Synonymous 66/82 - 2
7-21882321-G-A c.10851G>A p.L3617= Synonymous 66/82 - 2
7-21882321-G-C c.10851G>C p.L3617= Synonymous 66/82 - 2
7-21882321-G-T c.10851G>T p.L3617= Synonymous 66/82 - 2
7-21882325-G-A c.10855G>A p.E3619K Missense 66/82 - 1
7-21882327-G-C c.10857G>C p.E3619D Missense 66/82 - 1
7-21882328-G-A c.10858G>A p.V3620I Missense 66/82 - 1
7-21882334-A-G c.10864A>G p.S3622G Missense 66/82 - 1
7-21882334-A-C c.10864A>C p.S3622R Missense 66/82 - 1
7-21882337-A-G c.10867A>G p.I3623V Missense 66/82 - 1
7-21882347-C-A c.10877C>A p.P3626Q Missense 66/82 - 3
7-21882348-A-C c.10878A>C p.P3626= Synonymous 66/82 - 1
7-21882348-A-G c.10878A>G p.P3626= Synonymous 66/82 - 1
7-21882348-A-T c.10878A>T p.P3626= Synonymous 66/82 - 1
7-21882350-AT-A c.10883del p.L3628Wfs*8 Frameshift 66/82 - 1
7-21882358-A-T c.10888A>T p.K3630* Nonsense 66/82 - 1
7-21882362-T-G c.10892T>G p.L3631R Missense 66/82 - 2
7-21882424-A-G c.10896+58A>G - IntronicSNV - 66/81 5
7-21882430-A-G c.10896+64A>G - IntronicSNV - 66/81 1
7-21882561-C-T c.10896+195C>T - IntronicSNV - 66/81 2
7-21882562-C-T c.10896+196C>T - IntronicSNV - 66/81 1
7-21882591-C-G c.10896+225C>G - IntronicSNV - 66/81 2
7-21884455-T-A c.10896+2089T>A - IntronicSNV - 66/81 1
7-21884455-T-G c.10896+2089T>G - IntronicSNV - 66/81 1
7-21891287-C-G c.10897-798C>G - IntronicSNV - 66/81 1
7-21891287-C-T c.10897-798C>T - IntronicSNV - 66/81 1
7-21891451-A-G c.10897-634A>G - IntronicSNV - 66/81 1
7-21891451-A-T c.10897-634A>T - IntronicSNV - 66/81 1
7-21892087-G-T c.10899G>T p.L3633F Missense 67/82 - 1
7-21892091-T-C c.10903T>C p.L3635= Synonymous 67/82 - 1
7-21892104-A-C c.10916A>C p.Q3639P Missense 67/82 - 1
7-21892109-G-A c.10921G>A p.D3641N Missense 67/82 - 3
7-21892114-T-C c.10926T>C p.F3642= Synonymous 67/82 - 1
7-21892114-T-G c.10926T>G p.F3642L Missense 67/82 - 2
7-21892117-A-C c.10929A>C p.K3643N Missense 67/82 - 1
7-21892120-T-G c.10932T>G p.I3644M Missense 67/82 - 1
7-21892125-T-C c.10937T>C p.L3646P Missense 67/82 - 1
7-21892136-G-A c.10948G>A p.E3650K Missense 67/82 - 2
7-21892136-G-T c.10948G>T p.E3650* Nonsense 67/82 - 1
7-21892141-C-T c.10953C>T p.D3651= Synonymous 67/82 - 1
7-21892142-G-A c.10954G>A p.D3652N Missense 67/82 - 6
7-21892145-C-G c.10957C>G p.L3653V Missense 67/82 - 1
7-21892146-T-C c.10958T>C p.L3653P Missense 67/82 - 1
7-21892148-C-T c.10960C>T p.L3654F Missense 67/82 - 2
7-21892154-C-T c.10966C>T p.R3656C Missense 67/82 - 2
7-21892155-G-A c.10967G>A p.R3656H Missense 67/82 - 5
7-21892164-C-A c.10976C>A p.A3659E Missense 67/82 - 1
7-21892164-C-T c.10976C>T p.A3659V Missense 67/82 - 4
7-21892165-G-A c.10977G>A p.A3659= Synonymous 67/82 - 2
7-21892166-G-C c.10978G>C p.A3660P Missense 67/82 - 1
7-21892169-G-A c.10981G>A p.E3661K Missense 67/82 - 2
7-21892172-G-A c.10984G>A p.G3662R Missense 67/82 - 1
7-21892173-G-A c.10985G>A p.G3662E Missense 67/82 - 2
7-21892176-G-A c.10988G>A p.S3663N Missense 67/82 - 1
7-21892177-C-T c.10989C>T p.S3663= Synonymous 67/82 - 1
7-21892178-T-G c.10990T>G p.F3664V Missense 67/82 - 1
7-21892188-A-G c.11000A>G p.D3667G Missense 67/82 - 1
7-21892190-A-G c.11002A>G p.T3668A Missense 67/82 - 1
7-21892202-G-A c.11014G>A p.E3672K Missense 67/82 - 1
7-21892202-G-C c.11014G>C p.E3672Q Missense 67/82 - 1
7-21892206-G-A c.11018G>A p.R3673K Missense 67/82 - 3
7-21892206-G-C c.11018G>C p.R3673T Missense 67/82 - 1
7-21892212-A-G c.11024A>G p.E3675G Missense 67/82 - 2
7-21892213-G-A c.11025G>A p.E3675= Synonymous 67/82 - 2
7-21892213-G-C c.11025G>C p.E3675D Missense 67/82 - 1
7-21892213-G-T c.11025G>T p.E3675D Missense 67/82 - 1
7-21892217-A-G c.11029A>G p.T3677A Missense 67/82 - 1
7-21892222-G-C c.11034G>C p.K3678N Missense 67/82 - 1
7-21892227-C-T c.11039C>T p.T3680I Missense 67/82 - 1
7-21892228-C-A c.11040C>A p.T3680= Synonymous 67/82 - 1
7-21892228-C-G c.11040C>G p.T3680= Synonymous 67/82 - 1
7-21892228-C-T c.11040C>T p.T3680= Synonymous 67/82 - 1
7-21892229-G-A c.11041G>A p.V3681M Missense 67/82 - 3
7-21892230-T-C c.11042T>C p.V3681A Missense 67/82 - 1
7-21892232-G-A c.11044G>A p.A3682T Missense 67/82 - 1
7-21892238-A-G c.11050A>G p.I3684V Missense 67/82 - 1
7-21892240-A-G c.11052A>G p.I3684M Missense 67/82 - 1
7-21892246-C-A c.11058C>A p.H3686Q Missense 67/82 - 1
7-21892247-A-G c.11059A>G p.K3687E Missense 67/82 - 1
7-21892249-G-A c.11061G>A p.K3687= Synonymous 67/82 - 2
7-21892250-G-A c.11061+1G>A - IntronicSNV - 67/81 1
7-21892321-G-A c.11061+72G>A - IntronicSNV - 67/81 3
7-21892416-G-A c.11061+167G>A - IntronicSNV - 67/81 2
7-21892417-G-A c.11061+168G>A - IntronicSNV - 67/81 1
7-21893711-G-A c.11062-222G>A - IntronicSNV - 67/81 2
7-21893933-G-A c.11062G>A p.V3688M Missense 68/82 - 3
7-21893939-G-A c.11068G>A p.E3690K Missense 68/82 - 1
7-21893941-A-G c.11070A>G p.E3690= Synonymous 68/82 - 1
7-21893944-C-T c.11073C>T p.A3691= Synonymous 68/82 - 1
7-21893945-A-G c.11074A>G p.K3692E Missense 68/82 - 1
7-21893949-A-G c.11078A>G p.E3693G Missense 68/82 - 1
7-21893950-A-T c.11079A>T p.E3693D Missense 68/82 - 2
7-21893952-A-T c.11081A>T p.N3694I Missense 68/82 - 2
7-21893953-T-C c.11082T>C p.N3694= Synonymous 68/82 - 1
7-21893954-G-A c.11083G>A p.E3695K Missense 68/82 - 7
7-21893955-A-C c.11084A>C p.E3695A Missense 68/82 - 2
7-21893955-A-G c.11084A>G p.E3695G Missense 68/82 - 1
7-21893956-A-C c.11085A>C p.E3695D Missense 68/82 - 1
7-21893956-A-T c.11085A>T p.E3695D Missense 68/82 - 1
7-21893966-A-G c.11095A>G p.N3699D Missense 68/82 - 1
7-21893967-A-C c.11096A>C p.N3699T Missense 68/82 - 1
7-21893967-A-G c.11096A>G p.N3699S Missense 68/82 - 1
7-21893967-A-T c.11096A>T p.N3699I Missense 68/82 - 1
7-21893969-G-C c.11098G>C p.E3700Q Missense 68/82 - 1
7-21893969-G-T c.11098G>T p.E3700* Nonsense 68/82 - 1
7-21893971-G-C c.11100G>C p.E3700D Missense 68/82 - 2
7-21893971-G-T c.11100G>T p.E3700D Missense 68/82 - 2
7-21893972-G-T c.11101G>T p.A3701S Missense 68/82 - 3
7-21893975-C-G c.11104C>G p.R3702G Missense 68/82 - 1
7-21893976-G-A c.11105G>A p.R3702Q Missense 68/82 - 3
7-21893978-G-C c.11107G>C p.E3703Q Missense 68/82 - 1
7-21893981-T-C c.11110T>C p.C3704R Missense 68/82 - 1
7-21893986-C-T c.11115C>T p.Y3705= Synonymous 68/82 - 1
7-21893987-AGA-TGG c.11116_11118delinsTGG p.R3706W Missense 68/82 - 1
7-21893991-C-T c.11120C>T p.P3707L Missense 68/82 - 3
7-21893993-G-C c.11122G>C p.V3708L Missense 68/82 - 17
7-21893993-G-T c.11122G>T p.V3708L Missense 68/82 - 40
7-21893995-G-A c.11124G>A p.V3708= Synonymous 68/82 - 2
7-21893995-G-C c.11124G>C p.V3708= Synonymous 68/82 - 2
7-21893995-G-T c.11124G>T p.V3708= Synonymous 68/82 - 2
7-21894001-A-C c.11130A>C p.A3710= Synonymous 68/82 - 3
7-21894003-G-C c.11132G>C p.R3711T Missense 68/82 - 1
7-21894014-C-A c.11143C>A p.L3715I Missense 68/82 - 1
7-21894014-C-G c.11143C>G p.L3715V Missense 68/82 - 3
7-21894015-T-C c.11144T>C p.L3715P Missense 68/82 - 2
7-21894018-A-T c.11147A>T p.Y3716F Missense 68/82 - 1
7-21894027-T-C c.11156T>C p.I3719T Missense 68/82 - 4
7-21894029-A-G c.11158A>G p.N3720D Missense 68/82 - 1
7-21894029-A-T c.11158A>T p.N3720Y Missense 68/82 - 1
7-21894032-G-T c.11161G>T p.D3721Y Missense 68/82 - 1
7-21894035-C-T c.11164C>T p.L3722F Missense 68/82 - 1
7-21894038-C-T c.11167C>T p.Q3723* Nonsense 68/82 - 2
7-21894043-A-C c.11172A>C p.K3724N Missense 68/82 - 1
7-21894046-C-T c.11175C>T p.I3725= Synonymous 68/82 - 2
7-21894050-C-A c.11179C>A p.P3727T Missense 68/82 - 1
7-21894053-C-G c.11182C>G p.L3728V Missense 68/82 - 2
7-21894054-T-G c.11183T>G p.L3728R Missense 68/82 - 1
7-21894059-CA-C c.11190del p.Q3730Hfs*4 Frameshift 68/82 - 1
7-21894062-T-C c.11191T>C p.F3731L Missense 68/82 - 2
7-21894064-C-A c.11193C>A p.F3731L Missense 68/82 - 2
7-21894064-C-G c.11193C>G p.F3731L Missense 68/82 - 3
7-21894065-T-C c.11194T>C p.S3732P Missense 68/82 - 1
7-21894068-TTG-ATC c.11197_11199delinsATC p.L3733I Missense 68/82 - 1
7-21894070-G-A c.11199G>A p.L3733= Synonymous 68/82 - 1
7-21894071-A-C c.11200A>C p.K3734Q Missense 68/82 - 5
7-21894080-C-A c.11202+7C>A - IntronicSNV - 68/81 5
7-21894080-C-G c.11202+7C>G - IntronicSNV - 68/81 2
7-21894086-G-A c.11202+13G>A - IntronicSNV - 68/81 6
7-21894119-A-C c.11202+46A>C - IntronicSNV - 68/81 1
7-21894119-A-G c.11202+46A>G - IntronicSNV - 68/81 1
7-21894119-A-T c.11202+46A>T - IntronicSNV - 68/81 1
7-21894133-C-A c.11202+60C>A - IntronicSNV - 68/81 2
7-21896563-C-T c.11202+2490C>T - IntronicSNV - 68/81 1
7-21897714-G-A c.11202+3641G>A - IntronicSNV - 68/81 1
7-21900039-T-C c.11203-1432T>C - IntronicSNV - 68/81 1
7-21900149-G-A c.11203-1322G>A - IntronicSNV - 68/81 1
7-21900221-T-A c.11203-1250T>A - IntronicSNV - 68/81 1
7-21900298-T-G c.11203-1173T>G - IntronicSNV - 68/81 1
7-21901467-C-A c.11203-4C>A - IntronicSNV - 68/81 1
7-21901467-C-G c.11203-4C>G - IntronicSNV - 68/81 1
7-21901467-C-T c.11203-4C>T - IntronicSNV - 68/81 1
7-21901472-C-T c.11204C>T p.A3735V Missense 69/82 - 1
7-21901479-C-G c.11211C>G p.N3737K Missense 69/82 - 1
7-21901479-C-T c.11211C>T p.N3737= Synonymous 69/82 - 1
7-21901480-G-A c.11212G>A p.V3738M Missense 69/82 - 5
7-21901486-T-C c.11218T>C p.F3740L Missense 69/82 - 1
7-21901488-C-A c.11220C>A p.F3740L Missense 69/82 - 1
7-21901488-C-G c.11220C>G p.F3740L Missense 69/82 - 1
7-21901488-CC-AA c.11220_11221delinsAA p.F3740_H3741delinsLN MultiAAMissense 69/82 - 1
7-21901495-G-A c.11227G>A p.A3743T Missense 69/82 - 3
7-21901500-C-A c.11232C>A p.I3744= Synonymous 69/82 - 4
7-21901500-C-G c.11232C>G p.I3744M Missense 69/82 - 1
7-21901500-C-T c.11232C>T p.I3744= Synonymous 69/82 - 6
7-21901501-G-A c.11233G>A p.E3745K Missense 69/82 - 6
7-21901510-G-C c.11242G>C p.D3748H Missense 69/82 - 1
7-21901516-G-A c.11248G>A p.V3750M Missense 69/82 - 1
7-21901517-T-G c.11249T>G p.V3750G Missense 69/82 - 2
7-21901519-G-A c.11251G>A p.E3751K Missense 69/82 - 5
7-21901519-G-T c.11251G>T p.E3751* Nonsense 69/82 - 1
7-21901527-G-A c.11259G>A p.M3753I Missense 69/82 - 1
7-21901527-G-T c.11259G>T p.M3753I Missense 69/82 - 1
7-21901529-A-T c.11261A>T p.Q3754L Missense 69/82 - 1
7-21901534-C-G c.11266C>G p.R3756G Missense 69/82 - 2
7-21901534-C-T c.11266C>T p.R3756C Missense 69/82 - 1
7-21901535-G-A c.11267G>A p.R3756H Missense 69/82 - 2
7-21901535-G-T c.11267G>T p.R3756L Missense 69/82 - 2
7-21901538-T-A c.11270T>A p.I3757N Missense 69/82 - 1
7-21901539-C-A c.11271C>A p.I3757= Synonymous 69/82 - 2
7-21901539-C-T c.11271C>T p.I3757= Synonymous 69/82 - 1
7-21901540-T-C c.11272T>C p.S3758P Missense 69/82 - 12
7-21901542-T-A c.11274T>A p.S3758= Synonymous 69/82 - 2
7-21901542-T-C c.11274T>C p.S3758= Synonymous 69/82 - 2
7-21901542-T-G c.11274T>G p.S3758= Synonymous 69/82 - 2
7-21901543-A-G c.11275A>G p.I3759V Missense 69/82 - 1
7-21901545-C-G c.11277C>G p.I3759M Missense 69/82 - 1
7-21901547-T-C c.11279T>C p.L3760P Missense 69/82 - 1
7-21901551-G-A c.11283G>A p.M3761I Missense 69/82 - 1
7-21901559-T-A c.11291T>A p.I3764N Missense 69/82 - 1
7-21901560-C-A c.11292C>A p.I3764= Synonymous 69/82 - 1
7-21901563-C-G c.11295C>G p.T3765= Synonymous 69/82 - 1
7-21901564-C-G c.11296C>G p.H3766D Missense 69/82 - 2
7-21901566-T-A c.11298T>A p.H3766Q Missense 69/82 - 11
7-21901566-T-C c.11298T>C p.H3766= Synonymous 69/82 - 23
7-21901567-G-A c.11299G>A p.A3767T Missense 69/82 - 2
7-21901581-C-A c.11313C>A p.Y3771* Nonsense 69/82 - 1
7-21901583-C-T c.11315C>T p.T3772I Missense 69/82 - 1
7-21901592-C-T c.11324C>T p.A3775V Missense 69/82 - 1
7-21901593-G-A c.11325G>A p.A3775= Synonymous 69/82 - 11
7-21901593-G-C c.11325G>C p.A3775= Synonymous 69/82 - 7
7-21901593-G-T c.11325G>T p.A3775= Synonymous 69/82 - 2
7-21901595-T-C c.11327T>C p.L3776P Missense 69/82 - 1
7-21901600-G-A c.11332G>A p.E3778K Missense 69/82 - 1
7-21901600-G-T c.11332G>T p.E3778* Nonsense 69/82 - 1
7-21901602-G-A c.11334G>A p.E3778= Synonymous 69/82 - 2
7-21901604-A-G c.11336A>G p.K3779R Missense 69/82 - 1
7-21901605-G-T c.11337G>T p.K3779N Missense 69/82 - 2
7-21901606-G-A c.11338G>A p.D3780N Missense 69/82 - 5
7-21901612-C-A c.11344C>A p.L3782I Missense 69/82 - 1
7-21901615-A-C c.11347A>C p.T3783P Missense 69/82 - 1
7-21901618-T-C c.11350T>C p.F3784L Missense 69/82 - 1
7-21901620-C-A c.11352C>A p.F3784L Missense 69/82 - 4
7-21901620-C-G c.11352C>G p.F3784L Missense 69/82 - 1
7-21901621-C-G c.11353C>G p.L3785V Missense 69/82 - 1
7-21901626-C-A c.11358C>A p.S3786= Synonymous 69/82 - 1
7-21901631-T-C c.11363T>C p.M3788T Missense 69/82 - 2
7-21901633-G-A c.11365G>A p.A3789T Missense 69/82 - 1
7-21901740-C-CT c.11373+113dup - IntronicInsertion - 69/81 1
7-21902703-A-G c.11373+1062A>G - IntronicSNV - 69/81 1
7-21904135-A-G c.11374-18A>G - IntronicSNV - 69/81 1
7-21904153-A-G c.11374A>G p.I3792V Missense 70/82 - 1
7-21904163-G-A c.11384G>A p.R3795K Missense 70/82 - 1
7-21904168-A-G c.11389A>G p.K3797E Missense 70/82 - 1
7-21904161-GAGAA-G c.11390_11393del p.K3797Rfs*2 Frameshift 70/82 - 1
7-21904169-A-T c.11390A>T p.K3797I Missense 70/82 - 2
7-21904171-G-A c.11392G>A p.E3798K Missense 70/82 - 3
7-21904175-T-C c.11396T>C p.I3799T Missense 70/82 - 3
7-21904177-G-C c.11398G>C p.D3800H Missense 70/82 - 4
7-21904178-A-G c.11399A>G p.D3800G Missense 70/82 - 1
7-21904181-C-G c.11402C>G p.P3801R Missense 70/82 - 3
7-21904183-C-G c.11404C>G p.L3802V Missense 70/82 - 1
7-21904191-G-A c.11412G>A p.L3804= Synonymous 70/82 - 1
7-21904197-C-T c.11418C>T p.F3806= Synonymous 70/82 - 2
7-21904198-C-T c.11419C>T p.L3807= Synonymous 70/82 - 1
7-21904200-G-A c.11421G>A p.L3807= Synonymous 70/82 - 1
7-21904200-G-C c.11421G>C p.L3807= Synonymous 70/82 - 1
7-21904200-G-T c.11421G>T p.L3807= Synonymous 70/82 - 1
7-21904203-T-A c.11424T>A p.L3808= Synonymous 70/82 - 1
7-21904203-T-C c.11424T>C p.L3808= Synonymous 70/82 - 1
7-21904203-T-G c.11424T>G p.L3808= Synonymous 70/82 - 1
7-21904204-CGA-TAT c.11425_11427delinsTAT p.R3809Y Missense 70/82 - 1
7-21904204-CGA-TGT c.11425_11427delinsTGT p.R3809C Missense 70/82 - 1
7-21904204-C-T c.11425C>T p.R3809* Nonsense 70/82 - 2
7-21904205-G-A c.11426G>A p.R3809Q Missense 70/82 - 4
7-21904207-T-G c.11428T>G p.F3810V Missense 70/82 - 1
7-21904219-C-T c.11440C>T p.H3814Y Missense 70/82 - 1
7-21904221-C-A c.11442C>A p.H3814Q Missense 70/82 - 2
7-21904221-C-G c.11442C>G p.H3814Q Missense 70/82 - 3
7-21904223-C-T c.11444C>T p.T3815I Missense 70/82 - 1
7-21904225-C-T c.11446C>T p.H3816Y Missense 70/82 - 1
7-21904236-C-A c.11457C>A p.P3819= Synonymous 70/82 - 2
7-21904236-C-G c.11457C>G p.P3819= Synonymous 70/82 - 2
7-21904236-C-T c.11457C>T p.P3819= Synonymous 70/82 - 2
7-21904237-G-A c.11458G>A p.V3820I Missense 70/82 - 1
7-21904238-T-C c.11459T>C p.V3820A Missense 70/82 - 1
7-21904240-G-A c.11461G>A p.D3821N Missense 70/82 - 2
7-21904243-T-G c.11464T>G p.F3822V Missense 70/82 - 1
7-21904247-T-C c.11468T>C p.L3823P Missense 70/82 - 1
7-21904253-C-T c.11474C>T p.S3825F Missense 70/82 - 2
7-21904262-G-A c.11483G>A p.W3828* Nonsense 70/82 - 3
7-21904263-G-A c.11484G>A p.W3828* Nonsense 70/82 - 2
7-21904264-A-C c.11485A>C p.S3829R Missense 70/82 - 3
7-21904266-T-A c.11487T>A p.S3829R Missense 70/82 - 2
7-21904266-T-G c.11487T>G p.S3829R Missense 70/82 - 2
7-21904270-A-G c.11491A>G p.I3831V Missense 70/82 - 2
7-21905831-C-A c.11497-257C>A - IntronicSNV - 70/81 1
7-21905831-C-G c.11497-257C>G - IntronicSNV - 70/81 1
7-21905831-C-T c.11497-257C>T - IntronicSNV - 70/81 1
7-21905977-T-A c.11497-111T>A - IntronicSNV - 70/81 2
7-21905977-T-C c.11497-111T>C - IntronicSNV - 70/81 2
7-21906088-G-A c.11497G>A p.A3833T Missense 71/82 - 1
7-21906089-C-G c.11498C>G p.A3833G Missense 71/82 - 1
7-21906089-C-T c.11498C>T p.A3833V Missense 71/82 - 3
7-21906095-C-T c.11504C>T p.A3835V Missense 71/82 - 2
7-21906097-G-A c.11506G>A p.V3836I Missense 71/82 - 1
7-21906100-A-G c.11509A>G p.M3837V Missense 71/82 - 1
7-21906102-G-T c.11511G>T p.M3837I Missense 71/82 - 1
7-21906108-A-C c.11517A>C p.E3839D Missense 71/82 - 1
7-21906108-A-T c.11517A>T p.E3839D Missense 71/82 - 1
7-21906112-C-T c.11521C>T p.R3841* Nonsense 71/82 - 3
7-21906115-G-T c.11524G>T p.G3842C Missense 71/82 - 1
7-21906125-G-A c.11534G>A p.R3845Q Missense 71/82 - 3
7-21906125-G-T c.11534G>T p.R3845L Missense 71/82 - 1
7-21906127-G-A c.11536G>A p.D3846N Missense 71/82 - 3
7-21906128-A-C c.11537A>C p.D3846A Missense 71/82 - 1
7-21906129-T-A c.11538T>A p.D3846E Missense 71/82 - 1
7-21906137-G-A c.11546G>A p.G3849E Missense 71/82 - 2
7-21906137-G-T c.11546G>T p.G3849V Missense 71/82 - 3
7-21906156-G-A c.11565G>A p.R3855= Synonymous 71/82 - 1
7-21906163-G-A c.11572G>A p.V3858I Missense 71/82 - 1
7-21906166-G-A c.11575G>A p.E3859K Missense 71/82 - 3
7-21906166-G-T c.11575G>T p.E3859* Nonsense 71/82 - 2
7-21906170-C-T c.11579C>T p.S3860F Missense 71/82 - 1
7-21906171-C-T c.11580C>T p.S3860= Synonymous 71/82 - 1
7-21906173-A-T c.11582A>T p.E3861V Missense 71/82 - 1
7-21906176-G-A c.11585G>A p.C3862Y Missense 71/82 - 1
7-21906180-A-AG c.11590dup p.E3864Gfs*27 Frameshift 71/82 - 1
7-21906187-G-A c.11596G>A p.E3866K Missense 71/82 - 2
7-21906193-T-A c.11602T>A p.L3868I Missense 71/82 - 1
7-21906195-A-T c.11604A>T p.L3868F Missense 71/82 - 1
7-21906207-G-A c.11616G>A p.W3872* Nonsense 71/82 - 2
7-21906209-A-G c.11618A>G p.K3873R Missense 71/82 - 1
7-21906215-A-G c.11624A>G p.K3875R Missense 71/82 - 2
7-21906226-C-G c.11635C>G p.Q3879E Missense 71/82 - 1
7-21906226-C-T c.11635C>T p.Q3879* Nonsense 71/82 - 1
7-21906227-A-C c.11636A>C p.Q3879P Missense 71/82 - 1
7-21906229-A-C c.11638A>C p.K3880Q Missense 71/82 - 1
7-21906230-A-G c.11639A>G p.K3880R Missense 71/82 - 1
7-21906231-G-C c.11640G>C p.K3880N Missense 71/82 - 1
7-21906231-G-T c.11640G>T p.K3880N Missense 71/82 - 1
7-21906232-C-G c.11641C>G p.L3881V Missense 71/82 - 1
7-21906238-C-T c.11647C>T p.L3883F Missense 71/82 - 3
7-21906245-G-C c.11654G>C p.R3885T Missense 71/82 - 1
7-21906245-G-T c.11654G>T p.R3885I Missense 71/82 - 4
7-21906248-C-T c.11657C>T p.A3886V Missense 71/82 - 2
7-21906250-A-C c.11659A>C p.M3887L Missense 71/82 - 1
7-21906250-A-G c.11659A>G p.M3887V Missense 71/82 - 1
7-21906253-C-T c.11662C>T p.R3888C Missense 71/82 - 2
7-21906254-G-A c.11663G>A p.R3888H Missense 71/82 - 5
7-21906261-C-T c.11670C>T p.D3890= Synonymous 71/82 - 1
7-21906265-A-G c.11674A>G p.M3892V Missense 71/82 - 1
7-21906269-C-A c.11678C>A p.T3893K Missense 71/82 - 1
7-21906269-C-T c.11678C>T p.T3893M Missense 71/82 - 4
7-21906270-G-A c.11679G>A p.T3893= Synonymous 71/82 - 3
7-21906270-G-C c.11679G>C p.T3893= Synonymous 71/82 - 3
7-21906270-G-T c.11679G>T p.T3893= Synonymous 71/82 - 3
7-21906275-C-G c.11684C>G p.A3895G Missense 71/82 - 1
7-21906275-C-T c.11684C>T p.A3895V Missense 71/82 - 1
7-21906278-T-G c.11687T>G p.L3896R Missense 71/82 - 1
7-21907375-G-C c.11691-102G>C - IntronicSNV - 71/81 2
7-21907441-C-A c.11691-36C>A - IntronicSNV - 71/81 1
7-21907441-C-T c.11691-36C>T - IntronicSNV - 71/81 1
7-21907452-G-A c.11691-25G>A - IntronicSNV - 71/81 1
7-21907452-G-T c.11691-25G>T - IntronicSNV - 71/81 1
7-21907452-G-GT c.11691-20dup - IntronicInsertion - 71/81 4
7-21907457-T-TC c.11691-20_11691-19insC - IntronicInsertion - 71/81 3
7-21907458-A-AG c.11691-19_11691-18insG - IntronicInsertion - 71/81 1
7-21907458-A-C c.11691-19A>C - IntronicSNV - 71/81 7
7-21907458-A-G c.11691-19A>G - IntronicSNV - 71/81 7
7-21907458-A-T c.11691-19A>T - IntronicSNV - 71/81 7
7-21907476-GAAATTTTGT-G c.11692_11700del p.N3898_V3900del SpliceAcceptorDeletion 72/82 - 1
7-21907480-T-C c.11694T>C p.N3898= Synonymous 72/82 - 1
7-21907490-G-A c.11704G>A p.E3902K Missense 72/82 - 2
7-21907495-A-C c.11709A>C p.K3903N Missense 72/82 - 1
7-21907496-C-T c.11710C>T p.L3904= Synonymous 72/82 - 2
7-21907498-G-A c.11712G>A p.L3904= Synonymous 72/82 - 2
7-21907498-G-C c.11712G>C p.L3904= Synonymous 72/82 - 2
7-21907498-G-T c.11712G>T p.L3904= Synonymous 72/82 - 2
7-21907503-C-T c.11717C>T p.A3906V Missense 72/82 - 1
7-21907504-G-A c.11718G>A p.A3906= Synonymous 72/82 - 3
7-21907504-G-C c.11718G>C p.A3906= Synonymous 72/82 - 1
7-21907504-G-T c.11718G>T p.A3906= Synonymous 72/82 - 1
7-21907514-G-A c.11728G>A p.E3910K Missense 72/82 - 1
7-21907521-C-T c.11735C>T p.T3912I Missense 72/82 - 1
7-21907523-A-T c.11737A>T p.R3913* Nonsense 72/82 - 1
7-21907528-G-A c.11742G>A p.L3914= Synonymous 72/82 - 1
7-21907529-G-A c.11743G>A p.D3915N Missense 72/82 - 2
7-21907529-G-C c.11743G>C p.D3915H Missense 72/82 - 3
7-21907530-A-T c.11744A>T p.D3915V Missense 72/82 - 1
7-21907532-T-G c.11746T>G p.L3916V Missense 72/82 - 3
7-21907533-T-C c.11747T>C p.L3916S Missense 72/82 - 1
7-21907535-G-A c.11749G>A p.V3917I Missense 72/82 - 1
7-21907541-G-A c.11755G>A p.A3919T Missense 72/82 - 1
7-21907546-C-A c.11760C>A p.F3920L Missense 72/82 - 1
7-21907546-C-T c.11760C>T p.F3920= Synonymous 72/82 - 1
7-21907547-G-A c.11761G>A p.E3921K Missense 72/82 - 3
7-21907550-AGAAAGCAG-A c.11764_11771del p.E3922Pfs*17 Frameshift 72/82 - 1
7-21907557-G-T c.11771G>T p.S3924I Missense 72/82 - 3
7-21907558-C-T c.11772C>T p.S3924= Synonymous 72/82 - 2
7-21907559-C-G c.11773C>G p.P3925A Missense 72/82 - 1
7-21907560-C-T c.11774C>T p.P3925L Missense 72/82 - 2
7-21907563-C-T c.11777C>T p.A3926V Missense 72/82 - 1
7-21907567-C-T c.11781C>T p.T3927= Synonymous 72/82 - 2
7-21907574-T-C c.11788T>C p.F3930L Missense 72/82 - 1
7-21907574-T-TAC c.11788_11789insAC p.F3930Yfs*9 Frameshift 72/82 - 1
7-21907576-C-A c.11790C>A p.F3930L Missense 72/82 - 1
7-21907576-C-G c.11790C>G p.F3930L Missense 72/82 - 1
7-21907579-C-T c.11793C>T p.F3931= Synonymous 72/82 - 3
7-21907590-C-G c.11804C>G p.P3935R Missense 72/82 - 1
7-21907590-C-T c.11804C>T p.P3935L Missense 72/82 - 7
7-21907594-G-A c.11808G>A p.G3936= Synonymous 72/82 - 1
7-21907597-A-C c.11811A>C p.V3937= Synonymous 72/82 - 2
7-21907597-A-G c.11811A>G p.V3937= Synonymous 72/82 - 2
7-21907597-A-T c.11811A>T p.V3937= Synonymous 72/82 - 2
7-21907598-G-C c.11812G>C p.D3938H Missense 72/82 - 2
7-21907600-T-C c.11814T>C p.D3938= Synonymous 72/82 - 1
7-21907604-C-G c.11818C>G p.L3940V Missense 72/82 - 1
7-21907616-G-A c.11830G>A p.E3944K Missense 72/82 - 3
7-21907626-G-A c.11839+1G>A - IntronicSNV - 72/81 2
7-21907637-G-C c.11839+12G>C - IntronicSNV - 72/81 1
7-21907653-G-A c.11839+28G>A - IntronicSNV - 72/81 1
7-21907653-G-C c.11839+28G>C - IntronicSNV - 72/81 1
7-21907683-A-C c.11839+58A>C - IntronicSNV - 72/81 1
7-21907696-T-C c.11839+71T>C - IntronicSNV - 72/81 1
7-21907697-T-C c.11839+72T>C - IntronicSNV - 72/81 1
7-21907722-C-T c.11839+97C>T - IntronicSNV - 72/81 1
7-21907870-G-A c.11839+245G>A - IntronicSNV - 72/81 1
7-21907895-C-T c.11839+270C>T - IntronicSNV - 72/81 1
7-21907916-G-A c.11839+291G>A - IntronicSNV - 72/81 1
7-21908279-T-G c.11840-203T>G - IntronicSNV - 72/81 1
7-21908463-G-A c.11840-19G>A - IntronicSNV - 72/81 1
7-21908488-G-T c.11846G>T p.R3949I Missense 73/82 - 1
7-21908490-C-A c.11848C>A p.L3950I Missense 73/82 - 1
7-21908490-CTT-ATG c.11848_11850delinsATG p.L3950M Missense 73/82 - 1
7-21908494-G-T c.11852G>T p.G3951V Missense 73/82 - 3
7-21908495-GC-G c.11853del p.F3952Lfs*13 Frameshift 73/82 - 1
7-21908503-T-A c.11861T>A p.I3954N Missense 73/82 - 1
7-21908503-T-C c.11861T>C p.I3954T Missense 73/82 - 1
7-21908507-C-T c.11865C>T p.D3955= Synonymous 73/82 - 1
7-21908509-C-A c.11867C>A p.S3956Y Missense 73/82 - 2
7-21908509-C-G c.11867C>G p.S3956C Missense 73/82 - 2
7-21908509-C-T c.11867C>T p.S3956F Missense 73/82 - 1
7-21908512-G-A c.11870G>A p.G3957E Missense 73/82 - 3
7-21908512-G-C c.11870G>C p.G3957A Missense 73/82 - 2
7-21908512-G-T c.11870G>T p.G3957V Missense 73/82 - 1
7-21908514-A-C c.11872A>C p.K3958Q Missense 73/82 - 4
7-21908515-A-G c.11873A>G p.K3958R Missense 73/82 - 1
7-21908518-T-C c.11876T>C p.F3959S Missense 73/82 - 1
7-21908524-A-G c.11882A>G p.N3961S Missense 73/82 - 1
7-21908524-A-T c.11882A>T p.N3961I Missense 73/82 - 1
7-21908530-C-A c.11888C>A p.S3963Y Missense 73/82 - 1
7-21908530-C-T c.11888C>T p.S3963F Missense 73/82 - 4
7-21908534-A-C c.11892A>C p.L3964F Missense 73/82 - 1
7-21908542-G-A c.11900G>A p.G3967D Missense 73/82 - 1
7-21908542-G-T c.11900G>T p.G3967V Missense 73/82 - 1
7-21908544-C-A c.11902C>A p.Q3968K Missense 73/82 - 1
7-21908546-G-A c.11904G>A p.Q3968= Synonymous 73/82 - 1
7-21908551-C-T c.11909C>T p.T3970M Missense 73/82 - 2
7-21908555-G-A c.11913G>A p.V3971= Synonymous 73/82 - 1
7-21908554-TG-T c.11914del p.A3972Qfs*23 Frameshift 73/82 - 1
7-21908566-C-T c.11924C>T p.A3975V Missense 73/82 - 1
7-21908571-G-A c.11929G>A p.E3977K Missense 73/82 - 1
7-21908571-G-T c.11929G>T p.E3977* Nonsense 73/82 - 5
7-21908575-A-T c.11933A>T p.K3978I Missense 73/82 - 2
7-21908578-C-G c.11936C>G p.A3979G Missense 73/82 - 1
7-21908578-C-T c.11936C>T p.A3979V Missense 73/82 - 1
7-21908580-T-C c.11938T>C p.S3980P Missense 73/82 - 1
7-21908589-G-A c.11947G>A p.G3983R Missense 73/82 - 2
7-21908590-GA-AC c.11948_11949delinsAC p.G3983D Missense 73/82 - 1
7-21908594-C-A c.11952C>A p.H3984Q Missense 73/82 - 1
7-21908607-C-T c.11965C>T p.Q3989* Nonsense 73/82 - 1
7-21908609-A-C c.11967A>C p.Q3989H Missense 73/82 - 1
7-21908609-A-T c.11967A>T p.Q3989H Missense 73/82 - 1
7-21911691-A-G c.11968-1201A>G - IntronicSNV - 73/81 1
7-21911746-A-AAAAAAAAAAAAAC c.11968-1134_11968-1133insCAAAAAAAAAAAA - IntronicInsertion - 73/81 1
7-21912846-A-C c.11968-46A>C - IntronicSNV - 73/81 1
7-21912907-G-A c.11983G>A p.A3995T Missense 74/82 - 2
7-21912909-C-A c.11985C>A p.A3995= Synonymous 74/82 - 1
7-21912910-A-G c.11986A>G p.K3996E Missense 74/82 - 1
7-21912912-G-C c.11988G>C p.K3996N Missense 74/82 - 2
7-21912920-G-A c.11996G>A p.G3999E Missense 74/82 - 1
7-21912933-G-C c.12009G>C p.K4003N Missense 74/82 - 3
7-21912933-G-T c.12009G>T p.K4003N Missense 74/82 - 1
7-21912936-C-A c.12012C>A p.L4004= Synonymous 74/82 - 1
7-21912936-C-G c.12012C>G p.L4004= Synonymous 74/82 - 1
7-21912936-C-T c.12012C>T p.L4004= Synonymous 74/82 - 1
7-21912939-T-C c.12015T>C p.L4005= Synonymous 74/82 - 1
7-21912944-G-C c.12020G>C p.R4007T Missense 74/82 - 1
7-21912946-T-C c.12022T>C p.F4008L Missense 74/82 - 1
7-21912949-A-G c.12025A>G p.S4009G Missense 74/82 - 1
7-21912951-C-T c.12027C>T p.S4009= Synonymous 74/82 - 1
7-21912955-G-A c.12031G>A p.G4011R Missense 74/82 - 4
7-21912955-G-C c.12031G>C p.G4011R Missense 74/82 - 3
7-21912956-G-A c.12032G>A p.G4011E Missense 74/82 - 4
7-21912960-CCA-C c.12039_12040del p.H4013Qfs*10 Frameshift 74/82 - 1
7-21912964-A-C c.12040A>C p.R4014= Synonymous 74/82 - 1
7-21912965-G-A c.12041G>A p.R4014K Missense 74/82 - 1
7-21912967-G-T c.12043G>T p.D4015Y Missense 74/82 - 2
7-21912969-T-C c.12045T>C p.D4015= Synonymous 74/82 - 2
7-21912970-T-C c.12046T>C p.Y4016H Missense 74/82 - 1
7-21912974-G-A c.12050G>A p.R4017K Missense 74/82 - 1
7-21912976-G-A c.12052G>A p.V4018I Missense 74/82 - 1
7-21912976-G-T c.12052G>T p.V4018F Missense 74/82 - 1
7-21912977-T-G c.12053T>G p.V4018G Missense 74/82 - 1
7-21912985-A-C c.12061A>C p.S4021R Missense 74/82 - 1
7-21912988-G-C c.12064G>C p.A4022P Missense 74/82 - 4
7-21912993-G-A c.12069G>A p.E4023= Synonymous 74/82 - 1
7-21912993-G-C c.12069G>C p.E4023D Missense 74/82 - 1
7-21912995-C-A c.12071C>A p.S4024Y Missense 74/82 - 1
7-21912995-C-T c.12071C>T p.S4024F Missense 74/82 - 3
7-21912997-G-A c.12073G>A p.A4025T Missense 74/82 - 2
7-21913004-C-T c.12080C>T p.T4027I Missense 74/82 - 1
7-21913005-A-T c.12081A>T p.T4027= Synonymous 74/82 - 1
7-21913009-G-T c.12085G>T p.D4029Y Missense 74/82 - 1
7-21913012-G-T c.12088G>T p.E4030* Nonsense 74/82 - 1
7-21913023-C-T c.12099C>T p.I4033= Synonymous 74/82 - 1
7-21913024-C-G c.12100C>G p.P4034A Missense 74/82 - 4
7-21913028-A-G c.12104A>G p.Q4035R Missense 74/82 - 1
7-21913030-G-A c.12106G>A p.G4036R Missense 74/82 - 1
7-21913030-G-C c.12106G>C p.G4036R Missense 74/82 - 1
7-21913034-T-G c.12110T>G p.L4037R Missense 74/82 - 1
7-21913035-C-A c.12111C>A p.L4037= Synonymous 74/82 - 1
7-21913035-C-G c.12111C>G p.L4037= Synonymous 74/82 - 1
7-21913035-C-T c.12111C>T p.L4037= Synonymous 74/82 - 1
7-21913036-C-G c.12112C>G p.L4038V Missense 74/82 - 1
7-21913038-G-C c.12114G>C p.L4038= Synonymous 74/82 - 1
7-21913039-G-A c.12115G>A p.E4039K Missense 74/82 - 2
7-21913052-A-G c.12128A>G p.K4043R Missense 74/82 - 3
7-21913054-A-G c.12130A>G p.I4044V Missense 74/82 - 1
7-21913063-G-A c.12139G>A p.E4047K Missense 74/82 - 2
7-21913065-A-G c.12141A>G p.E4047= Synonymous 74/82 - 1
7-21913067-C-A c.12143C>A p.P4048H Missense 74/82 - 3
7-21913069-C-A c.12145C>A p.P4049T Missense 74/82 - 1
7-21913072-A-G c.12148A>G p.T4050A Missense 74/82 - 1
7-21913076-G-A c.12152G>A p.G4051E Missense 74/82 - 1
7-21913082-T-C c.12158T>C p.L4053P Missense 74/82 - 1
7-21913081-C-T c.12157C>T p.L4053= Synonymous 74/82 - 1
7-21913083-G-A c.12159G>A p.L4053= Synonymous 74/82 - 1
7-21913083-G-C c.12159G>C p.L4053= Synonymous 74/82 - 1
7-21913083-G-T c.12159G>T p.L4053= Synonymous 74/82 - 1
7-21913084-G-A c.12160G>A p.A4054T Missense 74/82 - 1
7-21913089-T-A c.12165T>A p.N4055K Missense 74/82 - 2
7-21913090-T-C c.12166T>C p.L4056= Synonymous 74/82 - 2
7-21913092-G-A c.12168G>A p.L4056= Synonymous 74/82 - 2
7-21913099-G-A c.12175G>A p.A4059T Missense 74/82 - 4
7-21913100-C-A c.12176C>A p.A4059D Missense 74/82 - 1
7-21913105-T-C c.12181T>C p.Y4061H Missense 74/82 - 1
7-21913109-A-G c.12185A>G p.N4062S Missense 74/82 - 1
7-21913110-C-A c.12186C>A p.N4062K Missense 74/82 - 1
7-21913110-C-G c.12186C>G p.N4062K Missense 74/82 - 1
7-21913117-C-T c.12193C>T p.Q4065* Nonsense 74/82 - 1
7-21914990-C-A c.12195+1871C>A - IntronicSNV - 74/81 1
7-21915464-G-A c.12195+2345G>A - IntronicSNV - 74/81 1
7-21915464-G-T c.12195+2345G>T - IntronicSNV - 74/81 1
7-21918306-C-T c.12196-2014C>T - IntronicSNV - 74/81 1
7-21920165-C-T c.12196-155C>T - IntronicSNV - 74/81 2
7-21920320-G-A c.12196G>A p.D4066N Missense 75/82 - 1
7-21920329-G-A c.12205G>A p.E4069K Missense 75/82 - 3
7-21920332-A-G c.12208A>G p.I4070V Missense 75/82 - 1
7-21920336-G-C c.12212G>C p.C4071S Missense 75/82 - 1
7-21920340-C-T c.12216C>T p.S4072= Synonymous 75/82 - 2
7-21920343-G-A c.12219G>A p.K4073= Synonymous 75/82 - 1
7-21920344-G-A c.12220G>A p.E4074K Missense 75/82 - 1
7-21920344-G-T c.12220G>T p.E4074* Nonsense 75/82 - 1
7-21920347-C-T c.12223C>T p.Q4075* Nonsense 75/82 - 1
7-21920348-A-T c.12224A>T p.Q4075L Missense 75/82 - 1
7-21920350-G-A c.12226G>A p.E4076K Missense 75/82 - 2
7-21920351-A-G c.12227A>G p.E4076G Missense 75/82 - 1
7-21920360-G-A c.12236G>A p.S4079N Missense 75/82 - 1
7-21920360-G-C c.12236G>C p.S4079T Missense 75/82 - 1
7-21920365-C-A c.12241C>A p.L4081I Missense 75/82 - 1
7-21920374-C-G c.12250C>G p.L4084V Missense 75/82 - 1
7-21920374-C-T c.12250C>T p.L4084F Missense 75/82 - 4
7-21920382-C-A c.12258C>A p.Y4086* Nonsense 75/82 - 2
7-21920390-C-T c.12266C>T p.A4089V Missense 75/82 - 1
7-21920391-C-T c.12267C>T p.A4089= Synonymous 75/82 - 1
7-21920393-G-T c.12269G>T p.C4090F Missense 75/82 - 1
7-21920395-G-A c.12271G>A p.V4091I Missense 75/82 - 1
7-21920404-A-G c.12280A>G p.R4094G Missense 75/82 - 1
7-21920408-T-C c.12284T>C p.L4095P Missense 75/82 - 1
7-21920407-C-T c.12283C>T p.L4095= Synonymous 75/82 - 1
7-21920409-G-A c.12285G>A p.L4095= Synonymous 75/82 - 1
7-21920409-G-C c.12285G>C p.L4095= Synonymous 75/82 - 1
7-21920409-G-T c.12285G>T p.L4095= Synonymous 75/82 - 1
7-21920412-G-A c.12288G>A p.R4096= Synonymous 75/82 - 1
7-21920420-C-G c.12296C>G p.P4099R Missense 75/82 - 1
7-21920424-G-C c.12300G>C p.Q4100H Missense 75/82 - 1
7-21920426-G-A c.12302G>A p.G4101D Missense 75/82 - 4
7-21920430-G-A c.12306G>A p.W4102* Nonsense 75/82 - 1
7-21920434-C-T c.12310C>T p.R4104* Nonsense 75/82 - 1
7-21920435-G-A c.12311G>A p.R4104Q Missense 75/82 - 2
7-21920438-G-A c.12314G>A p.S4105N Missense 75/82 - 1
7-21920441-A-G c.12317A>G p.Y4106C Missense 75/82 - 1
7-21920443-C-G c.12319C>G p.P4107A Missense 75/82 - 1
7-21920442-TC-T c.12320del p.P4107Lfs*18 Frameshift 75/82 - 1
7-21920452-C-A c.12328C>A p.P4110T Missense 75/82 - 2
7-21920452-C-T c.12328C>T p.P4110S Missense 75/82 - 1
7-21920455-G-A c.12331G>A p.G4111R Missense 75/82 - 2
7-21920456-G-A c.12332G>A p.G4111E Missense 75/82 - 3
7-21920458-G-C c.12334G>C p.D4112H Missense 75/82 - 1
7-21920468-T-G c.12344T>G p.I4115S Missense 75/82 - 2
7-21920482-C-T c.12358C>T p.L4120F Missense 75/82 - 1
7-21920485-T-C c.12361T>C p.Y4121H Missense 75/82 - 1
7-21920487-C-A c.12363C>A p.Y4121* Nonsense 75/82 - 1
7-21920487-C-G c.12363C>G p.Y4121* Nonsense 75/82 - 5
7-21920487-C-T c.12363C>T p.Y4121= Synonymous 75/82 - 1
7-21920489-A-G c.12365A>G p.N4122S Missense 75/82 - 1
7-21920495-T-C c.12371T>C p.L4124S Missense 75/82 - 1
7-21920532-A-G c.12387+21A>G - IntronicSNV - 75/81 1
7-21920532-A-T c.12387+21A>T - IntronicSNV - 75/81 1
7-21920556-G-A c.12387+45G>A - IntronicSNV - 75/81 1
7-21920800-G-A c.12387+289G>A - IntronicSNV - 75/81 1
7-21920802-A-C c.12387+291A>C - IntronicSNV - 75/81 1
7-21921331-T-C c.12387+820T>C - IntronicSNV - 75/81 1
7-21922555-T-C c.12388-1354T>C - IntronicSNV - 75/81 1
7-21922566-G-A c.12388-1343G>A - IntronicSNV - 75/81 1
7-21923867-C-G c.12388-42C>G - IntronicSNV - 75/81 6
7-21923918-G-A c.12397G>A p.E4133K Missense 76/82 - 2
7-21923919-A-G c.12398A>G p.E4133G Missense 76/82 - 1
7-21923927-C-T c.12406C>T p.R4136C Missense 76/82 - 1
7-21923933-C-A c.12412C>A p.L4138I Missense 76/82 - 1
7-21923939-G-A c.12418G>A p.G4140S Missense 76/82 - 2
7-21923939-GG-AA c.12418_12419delinsAA p.G4140N Missense 76/82 - 1
7-21923941-T-C c.12420T>C p.G4140= Synonymous 76/82 - 1
7-21923947-C-T c.12426C>T p.I4142= Synonymous 76/82 - 1
7-21923949-T-C c.12428T>C p.M4143T Missense 76/82 - 1
7-21923957-GGC-TGG c.12436_12438delinsTGG p.G4146W Missense 76/82 - 1
7-21923959-C-T c.12438C>T p.G4146= Synonymous 76/82 - 1
7-21923967-C-T c.12446C>T p.T4149I Missense 76/82 - 1
7-21923981-C-T c.12460C>T p.R4154C Missense 76/82 - 1
7-21923982-G-A c.12461G>A p.R4154H Missense 76/82 - 4
7-21923988-T-G c.12467T>G p.L4156R Missense 76/82 - 3
7-21923994-G-A c.12473G>A p.R4158Q Missense 76/82 - 3
7-21923997-T-G c.12476T>G p.V4159G Missense 76/82 - 1
7-21924005-G-A c.12484G>A p.E4162K Missense 76/82 - 1
7-21924006-A-C c.12485A>C p.E4162A Missense 76/82 - 3
7-21924013-C-T c.12492C>T p.F4164= Synonymous 76/82 - 3
7-21924014-A-G c.12493A>G p.M4165V Missense 76/82 - 36
7-21924014-A-T c.12493A>T p.M4165L Missense 76/82 - 14
7-21924021-C-T c.12500C>T p.P4167L Missense 76/82 - 2
7-21924029-G-C c.12507+1G>C - IntronicSNV - 76/81 1
7-21924239-C-G c.12507+211C>G - IntronicSNV - 76/81 1
7-21925105-A-T c.12507+1077A>T - IntronicSNV - 76/81 1
7-21925349-G-A c.12507+1321G>A - IntronicSNV - 76/81 1
7-21927082-G-C c.12507+3054G>C - IntronicSNV - 76/81 1
7-21928079-C-A c.12508-3964C>A - IntronicSNV - 76/81 1
7-21928527-T-C c.12508-3516T>C - IntronicSNV - 76/81 1
7-21929452-T-G c.12508-2591T>G - IntronicSNV - 76/81 1
7-21930604-G-A c.12508-1439G>A - IntronicSNV - 76/81 1
7-21932031-T-C c.12508-12T>C - IntronicSNV - 76/81 2
7-21932043-A-T c.12508A>T p.T4170S Missense 77/82 - 1
7-21932044-C-G c.12509C>G p.T4170S Missense 77/82 - 15
7-21932044-C-T c.12509C>T p.T4170I Missense 77/82 - 32
7-21932045-T-A c.12510T>A p.T4170= Synonymous 77/82 - 3
7-21932045-T-C c.12510T>C p.T4170= Synonymous 77/82 - 3
7-21932045-T-G c.12510T>G p.T4170= Synonymous 77/82 - 3
7-21932046-G-A c.12511G>A p.E4171K Missense 77/82 - 2
7-21932047-A-G c.12512A>G p.E4171G Missense 77/82 - 1
7-21932047-A-T c.12512A>T p.E4171V Missense 77/82 - 1
7-21932052-G-A c.12517G>A p.E4173K Missense 77/82 - 2
7-21932052-G-T c.12517G>T p.E4173* Nonsense 77/82 - 1
7-21932058-A-T c.12523A>T p.M4175L Missense 77/82 - 1
7-21932061-C-T c.12526C>T p.L4176= Synonymous 77/82 - 1
7-21932065-C-T c.12530C>T p.A4177V Missense 77/82 - 1
7-21932067-C-A c.12532C>A p.P4178T Missense 77/82 - 2
7-21932068-C-T c.12533C>T p.P4178L Missense 77/82 - 1
7-21932080-C-G c.12545C>G p.A4182G Missense 77/82 - 1
7-21932083-C-T c.12548C>T p.P4183L Missense 77/82 - 3
7-21932086-C-T c.12551C>T p.P4184L Missense 77/82 - 1
7-21932096-T-G c.12561T>G p.D4187E Missense 77/82 - 2
7-21932099-T-A c.12564T>A p.Y4188* Nonsense 77/82 - 1
7-21932099-T-G c.12564T>G p.Y4188* Nonsense 77/82 - 1
7-21932104-G-A c.12569G>A p.G4190D Missense 77/82 - 4
7-21932107-A-T c.12572A>T p.Y4191F Missense 77/82 - 1
7-21932110-A-G c.12575A>G p.H4192R Missense 77/82 - 1
7-21932112-C-T c.12577C>T p.Q4193* Nonsense 77/82 - 1
7-21932115-T-C c.12580T>C p.Y4194H Missense 77/82 - 3
7-21932124-G-A c.12589G>A p.E4197K Missense 77/82 - 1
7-21932126-G-C c.12591G>C p.E4197D Missense 77/82 - 2
7-21932128-T-C c.12593T>C p.M4198T Missense 77/82 - 1
7-21932136-C-T c.12601C>T p.P4201S Missense 77/82 - 3
7-21932135-TC-T c.12602del p.P4201Qfs*15 Frameshift 77/82 - 1
7-21932145-C-T c.12610C>T p.P4204S Missense 77/82 - 1
7-21932148-G-T c.12613G>T p.A4205S Missense 77/82 - 1
7-21932150-A-C c.12615A>C p.A4205= Synonymous 77/82 - 2
7-21932150-A-G c.12615A>G p.A4205= Synonymous 77/82 - 2
7-21932150-A-T c.12615A>T p.A4205= Synonymous 77/82 - 2
7-21932151-C-A c.12616C>A p.L4206M Missense 77/82 - 2
7-21932154-T-A c.12619T>A p.Y4207N Missense 77/82 - 2
7-21932158-G-A c.12623G>A p.G4208D Missense 77/82 - 1
7-21932160-C-T c.12625C>T p.L4209F Missense 77/82 - 1
7-21932166-C-G c.12631C>G p.P4211A Missense 77/82 - 1
7-21932166-C-T c.12631C>T p.P4211S Missense 77/82 - 2
7-21932167-C-T c.12632C>T p.P4211L Missense 77/82 - 4
7-21932169-A-G c.12634A>G p.N4212D Missense 77/82 - 1
7-21932172-G-A c.12637G>A p.A4213T Missense 77/82 - 1
7-21932177-A-G c.12642A>G p.E4214= Synonymous 77/82 - 1
7-21932179-T-C c.12644T>C p.I4215T Missense 77/82 - 1
7-21932181-G-T c.12646G>T p.E4216* Nonsense 77/82 - 1
7-21932182-A-T c.12647A>T p.E4216V Missense 77/82 - 1
7-21932183-AT-A c.12650del p.F4217Sfs*2 Frameshift 77/82 - 1
7-21932186-C-T c.12651C>T p.F4217= Synonymous 77/82 - 1
7-21932187-C-T c.12652C>T p.L4218= Synonymous 77/82 - 1
7-21932189-G-A c.12654G>A p.L4218= Synonymous 77/82 - 1
7-21932189-G-C c.12654G>C p.L4218= Synonymous 77/82 - 1
7-21932189-G-T c.12654G>T p.L4218= Synonymous 77/82 - 1
7-21932192-A-G c.12657A>G p.T4219= Synonymous 77/82 - 1
7-21932193-G-A c.12658G>A p.V4220M Missense 77/82 - 1
7-21932194-T-G c.12659T>G p.V4220G Missense 77/82 - 1
7-21932196-A-C c.12661A>C p.T4221P Missense 77/82 - 1
7-21932199-T-C c.12664T>C p.S4222P Missense 77/82 - 1
7-21932205-A-G c.12670A>G p.T4224A Missense 77/82 - 1
7-21932206-C-A c.12671C>A p.T4224N Missense 77/82 - 1
7-21932209-T-C c.12674T>C p.L4225P Missense 77/82 - 1
7-21932218-C-T c.12683C>T p.T4228I Missense 77/82 - 2
7-21932232-C-A c.12697C>A p.Q4233K Missense 77/82 - 1
7-21932232-C-T c.12697C>T p.Q4233* Nonsense 77/82 - 6
7-21932239-G-A c.12704G>A p.R4235K Missense 77/82 - 2
7-21932238-A-C c.12703A>C p.R4235= Synonymous 77/82 - 1
7-21932240-G-A c.12705G>A p.R4235= Synonymous 77/82 - 1
7-21932241-A-T c.12706A>T p.N4236Y Missense 77/82 - 1
7-21932245-C-A c.12710C>A p.A4237E Missense 77/82 - 1
7-21932247-C-A c.12712C>A p.L4238I Missense 77/82 - 4
7-21932249-C-A c.12714C>A p.L4238= Synonymous 77/82 - 1
7-21932249-C-G c.12714C>G p.L4238= Synonymous 77/82 - 1
7-21932249-C-T c.12714C>T p.L4238= Synonymous 77/82 - 1
7-21932251-G-C c.12716G>C p.S4239T Missense 77/82 - 1
7-21932252-T-C c.12717T>C p.S4239= Synonymous 77/82 - 1
7-21932253-G-A c.12718G>A p.G4240S Missense 77/82 - 1
7-21932258-T-C c.12723T>C p.D4241= Synonymous 77/82 - 2
7-21932262-C-G c.12727C>G p.L4243V Missense 77/82 - 1
7-21932265-G-T c.12730G>T p.G4244W Missense 77/82 - 1
7-21932268-C-A c.12733C>A p.Q4245K Missense 77/82 - 1
7-21932277-G-A c.12742G>A p.E4248K Missense 77/82 - 1
7-21932280-G-C c.12745G>C p.E4249Q Missense 77/82 - 1
7-21932281-A-T c.12746A>T p.E4249V Missense 77/82 - 3
7-21932317-T-C c.12750+32T>C - IntronicSNV - 77/81 6
7-21932317-T-G c.12750+32T>G - IntronicSNV - 77/81 5
7-21932318-T-C c.12750+33T>C - IntronicSNV - 77/81 1
7-21933786-C-T c.12751-455C>T - IntronicSNV - 77/81 1
7-21934243-T-A c.12753T>A p.V4251= Synonymous 78/82 - 1
7-21934252-C-A c.12762C>A p.V4254= Synonymous 78/82 - 1
7-21934257-A-T c.12767A>T p.D4256V Missense 78/82 - 1
7-21934259-G-A c.12769G>A p.D4257N Missense 78/82 - 1
7-21934259-G-T c.12769G>T p.D4257Y Missense 78/82 - 4
7-21934264-T-A c.12774T>A p.I4258= Synonymous 78/82 - 2
7-21934267-G-A c.12777G>A p.L4259= Synonymous 78/82 - 1
7-21934275-T-C c.12785T>C p.L4262P Missense 78/82 - 2
7-21934278-CCAG-C c.12788_12790del p.P4263_E4264delinsQ MultiAAMissense 78/82 - 1
7-21934280-G-A c.12790G>A p.E4264K Missense 78/82 - 3
7-21934280-G-T c.12790G>T p.E4264* Nonsense 78/82 - 1
7-21934286-TTCAAC-ATA c.12796_12801delinsATA p.F4266_N4267delinsI MultiAAMissense 78/82 - 4
7-21934287-T-C c.12797T>C p.F4266S Missense 78/82 - 1
7-21934293-T-C c.12803T>C p.M4268T Missense 78/82 - 1
7-21934302-T-C c.12812T>C p.I4271T Missense 78/82 - 1
7-21934307-CA-C c.12824del p.N4275Ifs*18 Frameshift 78/82 - 2
7-21934307-C-CA c.12824dup p.N4275Kfs*4 Frameshift 78/82 - 2
7-21934314-A-T c.12824A>T p.N4275I Missense 78/82 - 1
7-21934315-T-A c.12825T>A p.N4275K Missense 78/82 - 1
7-21934316-T-C c.12826T>C p.S4276P Missense 78/82 - 1
7-21934317-C-T c.12827C>T p.S4276L Missense 78/82 - 1
7-21934320-A-G c.12830A>G p.N4277S Missense 78/82 - 1
7-21934323-G-C c.12833G>C p.R4278T Missense 78/82 - 4
7-21934326-G-T c.12836G>T p.S4279I Missense 78/82 - 1
7-21934327-C-T c.12837C>T p.S4279= Synonymous 78/82 - 1
7-21934329-C-CA c.12840dup p.Y4281Ifs*10 Frameshift 78/82 - 1
7-21934331-T-A c.12841T>A p.Y4281N Missense 78/82 - 2
7-21934333-T-A c.12843T>A p.Y4281* Nonsense 78/82 - 2
7-21934333-T-G c.12843T>G p.Y4281* Nonsense 78/82 - 2
7-21934335-T-TA c.12845_12846insA p.L4283Sfs*8 Frameshift 78/82 - 1
7-21934341-T-C c.12851T>C p.V4284A Missense 78/82 - 1
7-21934344-G-C c.12854G>C p.C4285S Missense 78/82 - 1
7-21934348-C-G c.12858C>G p.F4286L Missense 78/82 - 1
7-21934357-T-A c.12867T>A p.C4289* Nonsense 78/82 - 1
7-21934357-TGA-T c.12871_12872del p.R4291Dfs*13 Frameshift 78/82 - 1
7-21934361-AGG-TGT c.12871_12873delinsTGT p.R4291C Missense 78/82 - 1
7-21934362-G-A c.12872G>A p.R4291K Missense 78/82 - 1
7-21934366-G-A c.12876G>A p.M4292I Missense 78/82 - 3
7-21934366-G-C c.12876G>C p.M4292I Missense 78/82 - 2
7-21934366-G-T c.12876G>T p.M4292I Missense 78/82 - 2
7-21934378-T-A c.12888T>A p.I4296= Synonymous 78/82 - 1
7-21934379-C-A c.12889C>A p.R4297= Synonymous 78/82 - 1
7-21934379-C-T c.12889C>T p.R4297W Missense 78/82 - 1
7-21934381-G-C c.12891G>C p.R4297= Synonymous 78/82 - 1
7-21934381-G-T c.12891G>T p.R4297= Synonymous 78/82 - 1
7-21934380-G-A c.12890G>A p.R4297Q Missense 78/82 - 2
7-21934381-G-A c.12891G>A p.R4297= Synonymous 78/82 - 3
7-21934382-G-A c.12892G>A p.E4298K Missense 78/82 - 1
7-21934388-C-T c.12898C>T p.R4300C Missense 78/82 - 4
7-21934389-G-A c.12899G>A p.R4300H Missense 78/82 - 3
7-21934394-T-G c.12904T>G p.S4302A Missense 78/82 - 1
7-21934403-C-A c.12913C>A p.Q4305K Missense 78/82 - 1
7-21934407-T-C c.12917T>C p.L4306P Missense 78/82 - 1
7-21934411-C-A c.12921C>A p.D4307E Missense 78/82 - 1
7-21934415-A-G c.12925A>G p.S4309G Missense 78/82 - 1
7-21934416-G-T c.12926G>T p.S4309I Missense 78/82 - 1
7-21934502-G-A c.12934G>A p.G4312R Missense 79/82 - 1
7-21934502-G-C c.12934G>C p.G4312R Missense 79/82 - 1
7-21934503-G-A c.12935G>A p.G4312E Missense 79/82 - 2
7-21934509-T-C c.12941T>C p.L4314S Missense 79/82 - 1
7-21934511-G-A c.12943G>A p.A4315T Missense 79/82 - 12
7-21934514-T-C c.12946T>C p.L4316= Synonymous 79/82 - 1
7-21934518-C-T c.12950C>T p.S4317F Missense 79/82 - 1
7-21934524-C-A c.12956C>A p.A4319D Missense 79/82 - 2
7-21934526-G-T c.12958G>T p.V4320L Missense 79/82 - 1
7-21934532-G-A c.12964G>A p.A4322T Missense 79/82 - 4
7-21934537-G-C c.12969G>C p.Q4323H Missense 79/82 - 1
7-21934542-T-G c.12974T>G p.F4325C Missense 79/82 - 2
7-21934545-CA-AC c.12977_12978delinsAC p.A4326D Missense 79/82 - 2
7-21934545-C-T c.12977C>T p.A4326V Missense 79/82 - 1
7-21934548-T-C c.12980T>C p.L4327S Missense 79/82 - 7
7-21934552-T-C c.12984T>C p.S4328= Synonymous 79/82 - 1
7-21934560-C-T c.12992C>T p.T4331M Missense 79/82 - 2
7-21934562-G-A c.12994G>A p.V4332I Missense 79/82 - 2
7-21934574-T-G c.13006T>G p.W4336G Missense 79/82 - 2
7-21934575-G-T c.13007G>T p.W4336L Missense 79/82 - 1
7-21934577-A-G c.13009A>G p.S4337G Missense 79/82 - 1
7-21934578-G-A c.13010G>A p.S4337N Missense 79/82 - 1
7-21934587-C-G c.13019C>G p.A4340G Missense 79/82 - 1
7-21934593-C-G c.13025C>G p.P4342R Missense 79/82 - 1
7-21934593-C-T c.13025C>T p.P4342L Missense 79/82 - 4
7-21934600-T-A c.13032T>A p.T4344= Synonymous 79/82 - 1
7-21934600-T-C c.13032T>C p.T4344= Synonymous 79/82 - 1
7-21934600-T-G c.13032T>G p.T4344= Synonymous 79/82 - 2
7-21934614-A-G c.13046A>G p.Q4349R Missense 79/82 - 1
7-21934622-G-A c.13049+5G>A - IntronicSNV - 79/81 1
7-21935493-G-A c.13049+876G>A - IntronicSNV - 79/81 1
7-21936698-A-C c.13049+2081A>C - IntronicSNV - 79/81 2
7-21937988-C-G c.13050-966C>G - IntronicSNV - 79/81 2
7-21937988-C-T c.13050-966C>T - IntronicSNV - 79/81 2
7-21938240-C-A c.13050-714C>A - IntronicSNV - 79/81 30
7-21938240-C-T c.13050-714C>T - IntronicSNV - 79/81 30
7-21938963-C-T c.13059C>T p.D4353= Synonymous 80/82 - 1
7-21938965-T-A c.13061T>A p.L4354H Missense 80/82 - 4
7-21938962-ACCT-A c.13065_13067del p.L4356del InFrameDeletion 80/82 - 2
7-21938969-C-A c.13065C>A p.L4355= Synonymous 80/82 - 1
7-21938973-C-T c.13069C>T p.R4357* Nonsense 80/82 - 3
7-21938979-C-T c.13075C>T p.R4359* Nonsense 80/82 - 4
7-21938980-G-A c.13076G>A p.R4359Q Missense 80/82 - 3
7-21938980-G-T c.13076G>T p.R4359L Missense 80/82 - 1
7-21938985-C-T c.13081C>T p.L4361F Missense 80/82 - 2
7-21938988-G-A c.13084G>A p.D4362N Missense 80/82 - 3
7-21938988-G-C c.13084G>C p.D4362H Missense 80/82 - 1
7-21938998-C-T c.13094C>T p.T4365I Missense 80/82 - 1
7-21939002-A-G c.13098A>G p.Q4366= Synonymous 80/82 - 1
7-21939004-A-G c.13100A>G p.D4367G Missense 80/82 - 1
7-21939006-C-T c.13102C>T p.L4368F Missense 80/82 - 1
7-21939012-C-G c.13108C>G p.L4370V Missense 80/82 - 1
7-21939016-C-T c.13112C>T p.P4371L Missense 80/82 - 3
7-21939018-G-A c.13114G>A p.A4372T Missense 80/82 - 1
7-21939021-G-A c.13117G>A p.V4373I Missense 80/82 - 1
7-21939023-C-A c.13119C>A p.V4373= Synonymous 80/82 - 1
7-21939023-C-G c.13119C>G p.V4373= Synonymous 80/82 - 1
7-21939023-C-T c.13119C>T p.V4373= Synonymous 80/82 - 1
7-21939024-G-A c.13120G>A p.V4374M Missense 80/82 - 1
7-21939030-C-T c.13126C>T p.L4376F Missense 80/82 - 1
7-21939032-C-A c.13128C>A p.L4376= Synonymous 80/82 - 18
7-21939032-C-G c.13128C>G p.L4376= Synonymous 80/82 - 18
7-21939032-C-T c.13128C>T p.L4376= Synonymous 80/82 - 2
7-21939035-C-A c.13131C>A p.S4377= Synonymous 80/82 - 2
7-21939035-C-G c.13131C>G p.S4377= Synonymous 80/82 - 2
7-21939035-C-T c.13131C>T p.S4377= Synonymous 80/82 - 2
7-21939036-G-C c.13132G>C p.G4378R Missense 80/82 - 1
7-21939039-T-C c.13135T>C p.F4379L Missense 80/82 - 1
7-21939041-C-A c.13137C>A p.F4379L Missense 80/82 - 1
7-21939041-C-G c.13137C>G p.F4379L Missense 80/82 - 1
7-21939056-C-T c.13152C>T p.S4384= Synonymous 80/82 - 1
7-21939074-C-G c.13162+8C>G - IntronicSNV - 80/81 1
7-21939074-C-T c.13162+8C>T - IntronicSNV - 80/81 1
7-21939089-C-A c.13162+23C>A - IntronicSNV - 80/81 6
7-21939251-G-A c.13162+185G>A - IntronicSNV - 80/81 1
7-21939342-T-A c.13163-256T>A - IntronicSNV - 80/81 2
7-21939344-T-C c.13163-254T>C - IntronicSNV - 80/81 1
7-21939344-T-G c.13163-254T>G - IntronicSNV - 80/81 1
7-21939382-A-G c.13163-216A>G - IntronicSNV - 80/81 2
7-21939420-A-G c.13163-178A>G - IntronicSNV - 80/81 1
7-21939485-C-T c.13163-113C>T - IntronicSNV - 80/81 3
7-21939599-A-AC c.13164_13165insC p.I4389Hfs*10 SpliceAcceptorInsertion 81/82 - 1
7-21939599-A-AG c.13164_13165insG p.I4389Dfs*10 SpliceAcceptorInsertion 81/82 - 1
7-21939599-A-AT c.13164_13165insT p.I4389Yfs*10 SpliceAcceptorInsertion 81/82 - 1
7-21939598-C-CA c.13165dup p.I4389Nfs*10 Frameshift 81/82 - 1
7-21939600-A-G c.13165A>G p.I4389V Missense 81/82 - 1
7-21939606-C-T c.13171C>T p.Q4391* Nonsense 81/82 - 1
7-21939607-A-T c.13172A>T p.Q4391L Missense 81/82 - 1
7-21939610-C-T c.13175C>T p.T4392M Missense 81/82 - 4
7-21939611-G-A c.13176G>A p.T4392= Synonymous 81/82 - 1
7-21939611-G-C c.13176G>C p.T4392= Synonymous 81/82 - 2
7-21939611-G-T c.13176G>T p.T4392= Synonymous 81/82 - 1
7-21939612-A-G c.13177A>G p.M4393V Missense 81/82 - 2
7-21939614-G-T c.13179G>T p.M4393I Missense 81/82 - 1
7-21939618-C-T c.13183C>T p.R4395* Nonsense 81/82 - 8
7-21939619-G-A c.13184G>A p.R4395Q Missense 81/82 - 2
7-21939621-A-C c.13186A>C p.K4396Q Missense 81/82 - 1
7-21939627-G-T c.13192G>T p.E4398* Nonsense 81/82 - 1
7-21939629-G-C c.13194G>C p.E4398D Missense 81/82 - 1
7-21939629-G-T c.13194G>T p.E4398D Missense 81/82 - 1
7-21939634-C-A c.13199C>A p.P4400H Missense 81/82 - 2
7-21939635-C-A c.13200C>A p.P4400= Synonymous 81/82 - 1
7-21939635-C-G c.13200C>G p.P4400= Synonymous 81/82 - 1
7-21939635-C-T c.13200C>T p.P4400= Synonymous 81/82 - 1
7-21939637-T-A c.13202T>A p.L4401Q Missense 81/82 - 1
7-21939642-A-C c.13207A>C p.K4403Q Missense 81/82 - 1
7-21939644-A-G c.13209A>G p.K4403= Synonymous 81/82 - 1
7-21939646-C-T c.13211C>T p.T4404M Missense 81/82 - 2
7-21939648-C-T c.13213C>T p.R4405C Missense 81/82 - 3
7-21939648-GC-G c.13213del p.R4405Afs*2 Frameshift 81/82 - 2
7-21939651-T-G c.13216T>G p.L4406V Missense 81/82 - 1
7-21939660-G-A c.13225G>A p.D4409N Missense 81/82 - 2
7-21939667-CC-TG c.13232_13233delinsTG p.T4411M Missense 81/82 - 1
7-21939667-C-T c.13232C>T p.T4411I Missense 81/82 - 1
7-21939668-C-CT c.13233_13234insT p.K4412* Nonsense 81/82 - 2
7-21939669-A-T c.13234A>T p.K4412* Nonsense 81/82 - 1
7-21939671-A-AT c.13236_13237insT p.K4413* Nonsense 81/82 - 1
7-21939668-CA-C c.13240del p.T4414Qfs*72 Frameshift 81/82 - 3
7-21939668-C-CA c.13240dup p.T4414Nfs*34 Frameshift 81/82 - 7
7-21939676-C-T c.13241C>T p.T4414I Missense 81/82 - 1
7-21939678-A-C c.13243A>C p.K4415Q Missense 81/82 - 3
7-21939681-G-A c.13246G>A p.E4416K Missense 81/82 - 1
7-21939690-G-A c.13255G>A p.G4419R Missense 81/82 - 1
7-21939690-G-GA c.13255_13256insA p.G4419Efs*29 Frameshift 81/82 - 1
7-21939693-C-T c.13258C>T p.H4420Y Missense 81/82 - 2
7-21939694-A-C c.13259A>C p.H4420P Missense 81/82 - 2
7-21939696-C-CA c.13261_13262insA p.P4421Hfs*27 Frameshift 81/82 - 1
7-21939697-C-T c.13262C>T p.P4421L Missense 81/82 - 5
7-21939698-G-A c.13263G>A p.P4421= Synonymous 81/82 - 2
7-21939698-G-C c.13263G>C p.P4421= Synonymous 81/82 - 3
7-21939704-G-A c.13269G>A p.R4423= Synonymous 81/82 - 1
7-21939705-G-C c.13270G>C p.E4424Q Missense 81/82 - 1
7-21939705-G-T c.13270G>T p.E4424* Nonsense 81/82 - 1
7-21939706-A-T c.13271A>T p.E4424V Missense 81/82 - 1
7-21939707-A-C c.13272A>C p.E4424D Missense 81/82 - 1
7-21939707-A-T c.13272A>T p.E4424D Missense 81/82 - 1
7-21939708-G-A c.13273G>A p.G4425S Missense 81/82 - 3
7-21939708-G-T c.13273G>T p.G4425C Missense 81/82 - 3
7-21939714-T-C c.13279T>C p.Y4427H Missense 81/82 - 1
7-21939720-CCACGGACTCTTCAT-C c.13285_13298del p.H4429Gfs*14 Frameshift 81/82 - 2
7-21939722-C-A c.13287C>A p.H4429Q Missense 81/82 - 1
7-21939722-C-G c.13287C>G p.H4429Q Missense 81/82 - 1
7-21939723-G-A c.13288G>A p.G4430R Missense 81/82 - 5
7-21939723-G-C c.13288G>C p.G4430R Missense 81/82 - 1
7-21939723-G-T c.13288G>T p.G4430* Nonsense 81/82 - 1
7-21939724-G-A c.13289G>A p.G4430E Missense 81/82 - 2
7-21940358-A-ATTCTC c.13304-264_13304-260dup - IntronicInsertion - 81/81 1
7-21940465-T-C c.13304-160T>C - IntronicSNV - 81/81 2
7-21940480-C-T c.13304-145C>T - IntronicSNV - 81/81 2
7-21940625-G-A c.13304G>A p.G4435D Missense 82/82 - 1
7-21940625-GCGCCCGCTGGGACA-G c.13306_13319del p.A4436Pfs*7 Frameshift 82/82 - 1
7-21940627-G-A c.13306G>A p.A4436T Missense 82/82 - 1
7-21940627-G-C c.13306G>C p.A4436P Missense 82/82 - 1
7-21940630-C-T c.13309C>T p.R4437C Missense 82/82 - 2
7-21940631-G-A c.13310G>A p.R4437H Missense 82/82 - 3
7-21940651-A-T c.13330A>T p.T4444S Missense 82/82 - 2
7-21940652-C-G c.13331C>G p.T4444S Missense 82/82 - 2
7-21940653-C-CA c.13333dup p.I4445Nfs*3 Frameshift 82/82 - 1
7-21940655-T-C c.13334T>C p.I4445T Missense 82/82 - 1
7-21940657-TGTTGAAGCCCGTCTCAAGGAGCTGGCATGC-T c.13336_13365del p.V4446_C4455del InFrameDeletion 82/82 - 3
7-21940660-G-A c.13339G>A p.E4447K Missense 82/82 - 1
7-21940663-G-A c.13342G>A p.A4448T Missense 82/82 - 1
7-21940666-C-G c.13345C>G p.R4449G Missense 82/82 - 1
7-21940666-C-T c.13345C>T p.R4449C Missense 82/82 - 2
7-21940667-G-A c.13346G>A p.R4449H Missense 82/82 - 1
7-21940672-A-G c.13351A>G p.K4451E Missense 82/82 - 1
7-21940677-G-A c.13356G>A p.E4452= Synonymous 82/82 - 1
7-21940678-C-G c.13357C>G p.L4453V Missense 82/82 - 2
7-21940685-G-A c.13364G>A p.C4455Y Missense 82/82 - 1
7-21940686-C-T c.13365C>T p.C4455= Synonymous 82/82 - 1
7-21940687-C-T c.13366C>T p.P4456S Missense 82/82 - 4
7-21940688-C-A c.13367C>A p.P4456H Missense 82/82 - 1
7-21940694-C-T c.13373C>T p.P4458L Missense 82/82 - 6
7-21940695-G-A c.13374G>A p.P4458= Synonymous 82/82 - 1
7-21940705-G-A c.13384G>A p.A4462T Missense 82/82 - 1
7-21940708-A-G c.13387A>G p.K4463E Missense 82/82 - 1
7-21940719-C-A c.13398C>A p.P4466= Synonymous 82/82 - 1
7-21940719-C-G c.13398C>G p.P4466= Synonymous 82/82 - 1
7-21940719-C-T c.13398C>T p.P4466= Synonymous 82/82 - 1
7-21940720-G-A c.13399G>A p.V4467M Missense 82/82 - 1
7-21940727-G-A c.13406G>A p.R4469K Missense 82/82 - 1
7-21940735-AC-A c.13416del p.K4473Nfs*13 Frameshift 82/82 - 1
7-21940749-C-T c.13428C>T p.Y4476= Synonymous 82/82 - 3
7-21940750-G-A c.13429G>A p.E4477K Missense 82/82 - 1
7-21940751-A-G c.13430A>G p.E4477G Missense 82/82 - 2
7-21940755-C-T c.13434C>T p.C4478= Synonymous 82/82 - 1
7-21940757-C-CCTGTG c.13436_13437insCTGTG p.V4480Cfs*8 Frameshift 82/82 - 1
7-21940759-G-A c.13438G>A p.V4480M Missense 82/82 - 1
7-21940769-C-T c.13448C>T p.T4483I Missense 82/82 - 1
7-21940770-C-A c.13449C>A p.T4483= Synonymous 82/82 - 1
7-21940770-C-T c.13449C>T p.T4483= Synonymous 82/82 - 2
7-21940772-A-C c.13451A>C p.K4484T Missense 82/82 - 3
7-21940776-G-A c.13455G>A p.L4485= Synonymous 82/82 - 1
7-21940778-G-A c.13457G>A p.R4486K Missense 82/82 - 1
7-21940778-G-GA c.13458dup p.G4487Rfs*33 Frameshift 82/82 - 1
7-21940794-C-A c.13473C>A p.I4491= Synonymous 82/82 - 1
7-21940794-C-T c.13473C>T p.I4491= Synonymous 82/82 - 1
7-21940797-G-C c.13476G>C p.W4492C Missense 82/82 - 1
7-21940797-G-T c.13476G>T p.W4492C Missense 82/82 - 1
7-21940799-C-T c.13478C>T p.T4493I Missense 82/82 - 2
7-21940808-T-C c.13487T>C p.L4496P Missense 82/82 - 1
7-21940807-C-T c.13486C>T p.L4496= Synonymous 82/82 - 3
7-21940809-G-A c.13488G>A p.L4496= Synonymous 82/82 - 3
7-21940809-G-C c.13488G>C p.L4496= Synonymous 82/82 - 3
7-21940809-G-T c.13488G>T p.L4496= Synonymous 82/82 - 3
7-21940811-A-G c.13490A>G p.K4497R Missense 82/82 - 1
7-21940813-AG-TT c.13492_13493delinsTT p.S4498F Missense 82/82 - 1
7-21940814-G-A c.13493G>A p.S4498N Missense 82/82 - 1
7-21940815-C-A c.13494C>A p.S4498R Missense 82/82 - 1
7-21940816-G-A c.13495G>A p.E4499K Missense 82/82 - 5
7-21940820-A-C c.13499A>C p.E4500A Missense 82/82 - 1
7-21940821-G-A c.13500G>A p.E4500= Synonymous 82/82 - 1
7-21940821-G-C c.13500G>C p.E4500D Missense 82/82 - 1
7-21940821-G-T c.13500G>T p.E4500D Missense 82/82 - 1
7-21940823-A-G c.13502A>G p.K4501R Missense 82/82 - 8
7-21940824-G-A c.13503G>A p.K4501= Synonymous 82/82 - 2
7-21940837-G-A c.13516G>A p.V4506I Missense 82/82 - 1
7-21940840-TCTG-T c.13519_13521del p.L4507del InFrameDeletion 82/82 - 1
7-21940845-T-A c.13524T>A p.A4508= Synonymous 82/82 - 1
7-21940845-T-C c.13524T>C p.A4508= Synonymous 82/82 - 1
7-21940845-T-G c.13524T>G p.A4508= Synonymous 82/82 - 1
7-21940852-G-GTTCAGGCTGAAGA c.13531_13532insTTCAGGCTGAAGA p.A4511Vfs*13 Frameshift 82/82 - 2
7-21940860-T-G c.13539T>G p.L4513= Synonymous 82/82 - 2
7-21940868-C-T c.13547C>T p.A4516V Missense 82/82 - 1
7-21940869-G-A c.13548G>A p.A4516= Synonymous 82/82 - 1
7-21940869-G-C c.13548G>C p.A4516= Synonymous 82/82 - 1
7-21940960-A-G c.*88A>G - 3-UTRSNV 82/82 - 20
7-21941061-C-G c.*189C>G - 3-UTRSNV 82/82 - 2
7-21941061-C-T c.*189C>T - 3-UTRSNV 82/82 - 2
7-21941439-A-G c.*567A>G - IntergenicSNV 82/82 - 2