BRAF

BRAF B-Raf proto-oncogene, serine/threonine kinase

Annotation transcript: NM_004333.6

5388 unique variant annotations were identified in 5139 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
7-140430901-C-G c.*3496G>C - IntergenicSNV 18/18 - 1
7-140430917-G-C c.*3480C>G - IntergenicSNV 18/18 - 1
7-140431694-G-A c.*2703C>T - IntergenicSNV 18/18 - 1
7-140432193-C-T c.*2204G>A - IntergenicSNV 18/18 - 1
7-140432893-T-C c.*1504A>G - IntergenicSNV 18/18 - 2
7-140433769-C-T c.*628G>A - IntergenicSNV 18/18 - 1
7-140434010-C-T c.*387G>A - 3-UTRSNV 18/18 - 1
7-140434181-A-G c.*216T>C - 3-UTRSNV 18/18 - 1
7-140434182-T-A c.*215A>T - 3-UTRSNV 18/18 - 1
7-140434340-T-A c.*57A>T - 3-UTRSNV 18/18 - 1
7-140434371-C-A c.*26G>T - 3-UTRSNV 18/18 - 1
7-140434371-C-T c.*26G>A - 3-UTRSNV 18/18 - 1
7-140434398-C-A c.2300G>T p.*767Lext*3 Missense 18/18 - 1
7-140434398-C-T c.2300G>A p.*767= Synonymous 18/18 - 1
7-140434399-A-C c.2299T>G p.*767Gext*3 Missense 18/18 - 1
7-140434401-TG-T c.2296del p.H766Tfs*6 Frameshift 18/18 - 1
7-140434403-G-A c.2295C>T p.V765= Synonymous 18/18 - 2
7-140434404-A-C c.2294T>G p.V765G Missense 18/18 - 1
7-140434405-C-A c.2293G>T p.V765F Missense 18/18 - 1
7-140434405-C-G c.2293G>C p.V765L Missense 18/18 - 1
7-140434405-C-T c.2293G>A p.V765I Missense 18/18 - 3
7-140434407-G-A c.2291C>T p.P764L Missense 18/18 - 1
7-140434407-G-T c.2291C>A p.P764H Missense 18/18 - 1
7-140434408-G-A c.2290C>T p.P764S Missense 18/18 - 3
7-140434408-G-T c.2290C>A p.P764T Missense 18/18 - 1
7-140434412-C-A c.2286G>T p.A762= Synonymous 18/18 - 2
7-140434412-C-G c.2286G>C p.A762= Synonymous 18/18 - 1
7-140434412-C-T c.2286G>A p.A762= Synonymous 18/18 - 2
7-140434413-G-A c.2285C>T p.A762V Missense 18/18 - 21
7-140434413-G-T c.2285C>A p.A762E Missense 18/18 - 18
7-140434414-C-A c.2284G>T p.A762S Missense 18/18 - 3
7-140434414-C-G c.2284G>C p.A762P Missense 18/18 - 1
7-140434414-C-T c.2284G>A p.A762T Missense 18/18 - 2
7-140434416-C-A c.2282G>T p.G761V Missense 18/18 - 2
7-140434416-C-T c.2282G>A p.G761D Missense 18/18 - 4
7-140434417-C-A c.2281G>T p.G761C Missense 18/18 - 1
7-140434417-C-T c.2281G>A p.G761S Missense 18/18 - 3
7-140434418-A-AT c.2279dup p.Y760* Nonsense 18/18 - 1
7-140434419-T-C c.2279A>G p.Y760C Missense 18/18 - 1
7-140434421-T-C c.2277A>G p.G759= Synonymous 18/18 - 1
7-140434420-ATCCCCCTGCCTGGATGGGTGTTTT-A c.2254_2277del p.K752_G759del InFrameDeletion 18/18 - 1
7-140434422-C-A c.2276G>T p.G759V Missense 18/18 - 1
7-140434422-C-G c.2276G>C p.G759A Missense 18/18 - 1
7-140434422-C-T c.2276G>A p.G759E Missense 18/18 - 3
7-140434423-C-A c.2275G>T p.G759* Nonsense 18/18 - 1
7-140434423-C-G c.2275G>C p.G759R Missense 18/18 - 1
7-140434423-C-T c.2275G>A p.G759R Missense 18/18 - 3
7-140434424-C-A c.2274G>T p.G758= Synonymous 18/18 - 1
7-140434425-C-A c.2273G>T p.G758V Missense 18/18 - 1
7-140434425-C-T c.2273G>A p.G758E Missense 18/18 - 4
7-140434426-C-A c.2272G>T p.G758W Missense 18/18 - 1
7-140434426-C-T c.2272G>A p.G758R Missense 18/18 - 1
7-140434428-G-A c.2270C>T p.A757V Missense 18/18 - 1
7-140434429-C-A c.2269G>T p.A757S Missense 18/18 - 3
7-140434429-C-T c.2269G>A p.A757T Missense 18/18 - 1
7-140434430-C-A c.2268G>T p.Q756H Missense 18/18 - 1
7-140434431-T-C c.2267A>G p.Q756R Missense 18/18 - 2
7-140434432-G-C c.2266C>G p.Q756E Missense 18/18 - 1
7-140434432-G-T c.2266C>A p.Q756K Missense 18/18 - 1
7-140434433-G-A c.2265C>T p.I755= Synonymous 18/18 - 1
7-140434433-G-C c.2265C>G p.I755M Missense 18/18 - 1
7-140434433-G-T c.2265C>A p.I755= Synonymous 18/18 - 1
7-140434434-A-G c.2264T>C p.I755T Missense 18/18 - 1
7-140434435-T-C c.2263A>G p.I755V Missense 18/18 - 1
7-140434435-T-TGATGCTGAGATGCC c.2262_2263insGGCATCTCAGCATC p.I755Gfs*22 Frameshift 18/18 - 1
7-140434436-G-A c.2262C>T p.P754= Synonymous 18/18 - 1
7-140434436-G-C c.2262C>G p.P754= Synonymous 18/18 - 1
7-140434436-G-T c.2262C>A p.P754= Synonymous 18/18 - 1
7-140434436-TGGGTGTTTTTGGAGAAGCACAAGC-T c.2239_2262del p.A747_P754del InFrameDeletion 18/18 - 1
7-140434437-G-A c.2261C>T p.P754L Missense 18/18 - 1
7-140434437-G-T c.2261C>A p.P754H Missense 18/18 - 1
7-140434438-G-A c.2260C>T p.P754S Missense 18/18 - 4
7-140434438-G-T c.2260C>A p.P754T Missense 18/18 - 1
7-140434437-GGTGTTTTT-G c.2253_2260del p.K752Hfs*40 Frameshift 18/18 - 1
7-140434439-T-A c.2259A>T p.T753= Synonymous 18/18 - 1
7-140434439-T-C c.2259A>G p.T753= Synonymous 18/18 - 1
7-140434439-T-G c.2259A>C p.T753= Synonymous 18/18 - 1
7-140434440-G-A c.2258C>T p.T753I Missense 18/18 - 1
7-140434440-G-C c.2258C>G p.T753R Missense 18/18 - 1
7-140434440-TG-T c.2258del p.T753Nfs*19 Frameshift 18/18 - 1
7-140434442-T-A c.2256A>T p.K752N Missense 18/18 - 1
7-140434442-T-C c.2256A>G p.K752= Synonymous 18/18 - 1
7-140434443-T-C c.2255A>G p.K752R Missense 18/18 - 1
7-140434444-TTTGGAGAAGCACAAG-T c.2240_2254del p.A747_K752delinsE MultiAAMissense 18/18 - 1
7-140434445-T-G c.2253A>C p.P751= Synonymous 18/18 - 1
7-140434445-TGGAGAAGCACAAGCAT-AGCA c.2237_2253delinsTGCT p.Y746Lfs*22 Frameshift 18/18 - 1
7-140434446-G-T c.2252C>A p.P751Q Missense 18/18 - 1
7-140434445-TGGAGAAGCACAA-T c.2241_2252del p.C748_P751del InFrameDeletion 18/18 - 1
7-140434445-TGGA-T c.2250_2252del p.P751del InFrameDeletion 18/18 - 1
7-140434447-G-A c.2251C>T p.P751S Missense 18/18 - 1
7-140434447-G-C c.2251C>G p.P751A Missense 18/18 - 8
7-140434447-GGAGAAGC-G c.2245_2251del p.A749Qfs*21 Frameshift 18/18 - 1
7-140434447-G-T c.2251C>A p.P751T Missense 18/18 - 1
7-140434448-A-G c.2250T>C p.S750= Synonymous 18/18 - 1
7-140434448-GA-G c.2250del p.P751Qfs*21 Frameshift 18/18 - 1
7-140434449-AGAAGCACAAGCATAT-A c.2235_2249del p.Y746_S750del InFrameDeletion 18/18 - 2
7-140434449-G-A c.2249C>T p.S750F Missense 18/18 - 2
7-140434449-G-T c.2249C>A p.S750Y Missense 18/18 - 2
7-140434450-A-G c.2248T>C p.S750P Missense 18/18 - 1
7-140434449-GAAGCACAAGC-G c.2239_2248del p.A747Lfs*22 Frameshift 18/18 - 1
7-140434451-A-C c.2247T>G p.A749= Synonymous 18/18 - 1
7-140434451-A-G c.2247T>C p.A749= Synonymous 18/18 - 1
7-140434451-A-T c.2247T>A p.A749= Synonymous 18/18 - 1
7-140434452-G-A c.2246C>T p.A749V Missense 18/18 - 1
7-140434452-G-T c.2246C>A p.A749D Missense 18/18 - 2
7-140434453-C-A c.2245G>T p.A749S Missense 18/18 - 1
7-140434453-C-T c.2245G>A p.A749T Missense 18/18 - 3
7-140434449-GAAGCAC-G c.2243_2248del p.C748_A749del InFrameDeletion 18/18 - 1
7-140434455-C-A c.2243G>T p.C748F Missense 18/18 - 1
7-140434456-A-G c.2242T>C p.C748R Missense 18/18 - 1
7-140434456-A-T c.2242T>A p.C748S Missense 18/18 - 1
7-140434458-G-A c.2240C>T p.A747V Missense 18/18 - 4
7-140434458-G-T c.2240C>A p.A747D Missense 18/18 - 1
7-140434459-C-A c.2239G>T p.A747S Missense 18/18 - 2
7-140434460-A-T c.2238T>A p.Y746* Nonsense 18/18 - 1
7-140434461-ATATAGACT-A c.2230_2237del p.S744Cfs*48 Frameshift 18/18 - 1
7-140434461-T-A c.2237A>T p.Y746F Missense 18/18 - 1
7-140434461-T-C c.2237A>G p.Y746C Missense 18/18 - 1
7-140434462-A-G c.2236T>C p.Y746H Missense 18/18 - 1
7-140434463-T-A c.2235A>T p.L745= Synonymous 18/18 - 3
7-140434463-T-C c.2235A>G p.L745= Synonymous 18/18 - 6
7-140434463-T-G c.2235A>C p.L745= Synonymous 18/18 - 1
7-140434464-A-T c.2234T>A p.L745Q Missense 18/18 - 1
7-140434465-G-A c.2233C>T p.L745= Synonymous 18/18 - 2
7-140434465-G-C c.2233C>G p.L745V Missense 18/18 - 1
7-140434465-G-T c.2233C>A p.L745I Missense 18/18 - 1
7-140434466-ACT-TCA c.2230_2232delinsTGA p.S744* Nonsense 18/18 - 1
7-140434466-A-G c.2232T>C p.S744= Synonymous 18/18 - 1
7-140434467-C-A c.2231G>T p.S744I Missense 18/18 - 2
7-140434467-C-G c.2231G>C p.S744T Missense 18/18 - 1
7-140434467-C-T c.2231G>A p.S744N Missense 18/18 - 2
7-140434468-T-A c.2230A>T p.S744C Missense 18/18 - 1
7-140434468-T-C c.2230A>G p.S744G Missense 18/18 - 1
7-140434469-A-C c.2229T>G p.F743L Missense 18/18 - 1
7-140434469-A-T c.2229T>A p.F743L Missense 18/18 - 1
7-140434471-A-G c.2227T>C p.F743L Missense 18/18 - 1
7-140434473-T-C c.2225A>G p.D742G Missense 18/18 - 1
7-140434474-C-A c.2224G>T p.D742Y Missense 18/18 - 1
7-140434474-C-T c.2224G>A p.D742N Missense 18/18 - 1
7-140434475-C-A c.2223G>T p.E741D Missense 18/18 - 3
7-140434475-C-G c.2223G>C p.E741D Missense 18/18 - 3
7-140434475-C-T c.2223G>A p.E741= Synonymous 18/18 - 3
7-140434477-C-A c.2221G>T p.E741* Nonsense 18/18 - 1
7-140434477-C-G c.2221G>C p.E741Q Missense 18/18 - 1
7-140434477-C-T c.2221G>A p.E741K Missense 18/18 - 2
7-140434479-G-A c.2219C>T p.T740I Missense 18/18 - 1
7-140434480-T-C c.2218A>G p.T740A Missense 18/18 - 1
7-140434483-G-A c.2215C>T p.Q739* Nonsense 18/18 - 3
7-140434483-G-T c.2215C>A p.Q739K Missense 18/18 - 1
7-140434484-G-T c.2214C>A p.F738L Missense 18/18 - 1
7-140434488-C-A c.2210G>T p.G737V Missense 18/18 - 1
7-140434488-C-T c.2210G>A p.G737D Missense 18/18 - 1
7-140434489-C-A c.2209G>T p.G737C Missense 18/18 - 1
7-140434489-C-G c.2209G>C p.G737R Missense 18/18 - 1
7-140434490-A-C c.2208T>G p.A736= Synonymous 18/18 - 1
7-140434490-A-G c.2208T>C p.A736= Synonymous 18/18 - 1
7-140434490-AG-CT c.2207_2208inv p.A736E Missense 18/18 - 1
7-140434490-A-T c.2208T>A p.A736= Synonymous 18/18 - 1
7-140434492-C-A c.2206G>T p.A736S Missense 18/18 - 2
7-140434492-C-T c.2206G>A p.A736T Missense 18/18 - 2
7-140434493-C-A c.2205G>T p.R735= Synonymous 18/18 - 1
7-140434494-C-A c.2204G>T p.R735L Missense 18/18 - 2
7-140434494-C-T c.2204G>A p.R735Q Missense 18/18 - 4
7-140434495-G-A c.2203C>T p.R735W Missense 18/18 - 5
7-140434495-G-C c.2203C>G p.R735G Missense 18/18 - 1
7-140434497-T-C c.2201A>G p.N734S Missense 18/18 - 1
7-140434499-C-A c.2199G>T p.L733F Missense 18/18 - 5
7-140434499-C-G c.2199G>C p.L733F Missense 18/18 - 6
7-140434500-A-G c.2198T>C p.L733S Missense 18/18 - 2
7-140434500-A-T c.2198T>A p.L733* Nonsense 18/18 - 1
7-140434500-CAAG-C c.2196_2198del p.L733del InFrameDeletion 18/18 - 1
7-140434499-C-T c.2199G>A p.L733= Synonymous 18/18 - 2
7-140434501-A-G c.2197T>C p.L733= Synonymous 18/18 - 1
7-140434502-G-A c.2196C>T p.S732= Synonymous 18/18 - 2
7-140434502-G-C c.2196C>G p.S732= Synonymous 18/18 - 2
7-140434502-G-T c.2196C>A p.S732= Synonymous 18/18 - 1
7-140434503-G-A c.2195C>T p.S732F Missense 18/18 - 7
7-140434502-GGA-G c.2194_2195del p.S732Lfs*12 Frameshift 18/18 - 1
7-140434505-G-A c.2193C>T p.P731= Synonymous 18/18 - 5
7-140434505-G-C c.2193C>G p.P731= Synonymous 18/18 - 1
7-140434505-G-T c.2193C>A p.P731= Synonymous 18/18 - 2
7-140434506-G-A c.2192C>T p.P731L Missense 18/18 - 3
7-140434506-G-T c.2192C>A p.P731H Missense 18/18 - 1
7-140434507-G-A c.2191C>T p.P731S Missense 18/18 - 20
7-140434507-G-C c.2191C>G p.P731A Missense 18/18 - 1
7-140434507-G-T c.2191C>A p.P731T Missense 18/18 - 2
7-140434510-C-A c.2188G>T p.E730* Nonsense 18/18 - 1
7-140434510-C-T c.2188G>A p.E730K Missense 18/18 - 2
7-140434511-T-A c.2187A>T p.S729= Synonymous 18/18 - 2
7-140434511-T-C c.2187A>G p.S729= Synonymous 18/18 - 3
7-140434511-T-G c.2187A>C p.S729= Synonymous 18/18 - 1
7-140434511-TGA-GTC c.2185_2187delinsGAC p.S729D Missense 18/18 - 1
7-140434512-G-A c.2186C>T p.S729L Missense 18/18 - 1
7-140434512-G-C c.2186C>G p.S729* Nonsense 18/18 - 1
7-140434512-G-T c.2186C>A p.S729* Nonsense 18/18 - 1
7-140434513-A-C c.2185T>G p.S729A Missense 18/18 - 11
7-140434513-A-G c.2185T>C p.S729P Missense 18/18 - 1
7-140434515-G-A c.2183C>T p.A728V Missense 18/18 - 7
7-140434516-C-A c.2182G>T p.A728S Missense 18/18 - 2
7-140434516-C-G c.2182G>C p.A728P Missense 18/18 - 1
7-140434516-C-T c.2182G>A p.A728T Missense 18/18 - 1
7-140434517-A-G c.2181T>C p.S727= Synonymous 18/18 - 1
7-140434518-C-A c.2180G>T p.S727I Missense 18/18 - 2
7-140434518-C-G c.2180G>C p.S727T Missense 18/18 - 2
7-140434519-T-C c.2179A>G p.S727G Missense 18/18 - 2
7-140434520-G-C c.2178C>G p.R726= Synonymous 18/18 - 1
7-140434520-GCG-CCA c.2176_2178delinsTGG p.R726W Missense 18/18 - 2
7-140434520-GCG-CTT c.2176_2178delinsAAG p.R726K Missense 18/18 - 1
7-140434520-GCG-TCA c.2176_2178delinsTGA p.R726* Nonsense 18/18 - 1
7-140434520-GC-TT c.2177_2178delinsAA p.R726Q Missense 18/18 - 1
7-140434521-C-A c.2177G>T p.R726L Missense 18/18 - 2
7-140434521-C-T c.2177G>A p.R726H Missense 18/18 - 8
7-140434522-G-A c.2176C>T p.R726C Missense 18/18 - 11
7-140434522-G-T c.2176C>A p.R726S Missense 18/18 - 1
7-140434523-G-A c.2175C>T p.H725= Synonymous 18/18 - 4
7-140434525-G-A c.2173C>T p.H725Y Missense 18/18 - 15
7-140434525-G-T c.2173C>A p.H725N Missense 18/18 - 1
7-140434526-A-C c.2172T>G p.I724M Missense 18/18 - 1
7-140434527-A-C c.2171T>G p.I724S Missense 18/18 - 1
7-140434527-A-T c.2171T>A p.I724N Missense 18/18 - 1
7-140434530-T-A c.2168A>T p.K723I Missense 18/18 - 1
7-140434530-TT-CC c.2167_2168delinsGG p.K723G Missense 18/18 - 8
7-140434531-T-C c.2167A>G p.K723E Missense 18/18 - 2
7-140434527-AT-A c.2170del p.I724Ffs*10 UnclassifiedDeletion 18/18 - 1
7-140434533-G-A c.2165C>T p.P722L Missense 18/18 - 2
7-140434533-G-T c.2165C>A p.P722Q Missense 18/18 - 3
7-140434532-TG-T c.2165del p.P722Qfs*12 Frameshift 18/18 - 1
7-140434534-G-A c.2164C>T p.P722S Missense 18/18 - 9
7-140434534-G-T c.2164C>A p.P722T Missense 18/18 - 2
7-140434535-C-A c.2163G>T p.L721F Missense 18/18 - 2
7-140434535-C-G c.2163G>C p.L721F Missense 18/18 - 1
7-140434535-C-T c.2163G>A p.L721= Synonymous 18/18 - 1
7-140434537-A-G c.2161T>C p.L721= Synonymous 18/18 - 1
7-140434538-T-A c.2160A>T p.S720= Synonymous 18/18 - 2
7-140434538-T-C c.2160A>G p.S720= Synonymous 18/18 - 4
7-140434538-T-G c.2160A>C p.S720= Synonymous 18/18 - 2
7-140434538-TGA-GTT c.2158_2160delinsAAC p.S720N Missense 18/18 - 1
7-140434539-G-A c.2159C>T p.S720L Missense 18/18 - 2
7-140434539-GA-TC c.2158_2159inv p.S720E Missense 18/18 - 7
7-140434539-G-T c.2159C>A p.S720* Nonsense 18/18 - 1
7-140434541-GCG-CCA c.2155_2157delinsTGG p.R719W Missense 18/18 - 1
7-140434542-C-A c.2156G>T p.R719L Missense 18/18 - 3
7-140434542-C-CTGCT c.2155_2156insAGCA p.R719Qfs*27 Frameshift 18/18 - 1
7-140434542-C-G c.2156G>C p.R719P Missense 18/18 - 5
7-140434542-CG-GT c.2155_2156delinsAC p.R719T Missense 18/18 - 1
7-140434542-C-T c.2156G>A p.R719H Missense 18/18 - 7
7-140434543-G-A c.2155C>T p.R719C Missense 18/18 - 5
7-140434543-G-T c.2155C>A p.R719S Missense 18/18 - 2
7-140434544-G-GCCCGCTCATT c.2153_2154insAATGAGCGGG p.R719Mfs*29 Frameshift 18/18 - 1
7-140434545-G-A c.2153C>T p.A718V Missense 18/18 - 2
7-140434546-C-A c.2152G>T p.A718S Missense 18/18 - 4
7-140434546-C-G c.2152G>C p.A718P Missense 18/18 - 1
7-140434546-C-T c.2152G>A p.A718T Missense 18/18 - 1
7-140434547-C-A c.2151G>T p.L717= Synonymous 18/18 - 1
7-140434549-G-A c.2149C>T p.L717= Synonymous 18/18 - 1
7-140434548-A-G c.2150T>C p.L717P Missense 18/18 - 1
7-140434549-G-C c.2149C>G p.L717V UnclassifiedSNV 18/18 - 1
7-140434550-C-A c.2148G>T p.L716= Synonymous 18/18 - 1
7-140434550-C-T c.2148G>A p.L716= Synonymous 18/18 - 2
7-140434552-G-A c.2146C>T p.L716= Synonymous 18/18 - 1
7-140434551-AG-TC c.2146_2147delinsGA p.L716E Missense 18/18 - 8
7-140434553-C-A c.2145G>T p.E715D Missense 18/18 - 1
7-140434554-T-A c.2144A>T p.E715V Missense 18/18 - 1
7-140434554-T-C c.2144A>G p.E715G Missense 18/18 - 1
7-140434555-C-A c.2143G>T p.E715* Nonsense 18/18 - 5
7-140434555-C-G c.2143G>C p.E715Q Missense 18/18 - 1
7-140434555-C-T c.2143G>A p.E715K Missense 18/18 - 3
7-140434557-A-G c.2141T>C p.I714T Missense 18/18 - 1
7-140434557-A-T c.2141T>A p.I714N Missense 18/18 - 1
7-140434558-T-A c.2140A>T p.I714F Missense 18/18 - 1
7-140434558-T-C c.2140A>G p.I714V Missense 18/18 - 2
7-140434559-A-G c.2139T>C p.S713= Synonymous 18/18 - 2
7-140434559-AGA-CTC c.2137_2139delinsGAG p.S713E Missense 18/18 - 8
7-140434560-G-A c.2138C>T p.S713F Missense 18/18 - 2
7-140434560-G-T c.2138C>A p.S713Y Missense 18/18 - 2
7-140434561-A-G c.2137T>C p.S713P Missense 18/18 - 1
7-140434561-A-T c.2137T>A p.S713T Missense 18/18 - 1
7-140434563-G-A c.2135C>T p.A712V Missense 18/18 - 2
7-140434563-G-T c.2135C>A p.A712D Missense 18/18 - 3
7-140434564-C-A c.2134G>T p.A712S Missense 18/18 - 2
7-140434564-C-G c.2134G>C p.A712P Missense 18/18 - 1
7-140434564-C-T c.2134G>A p.A712T Missense 18/18 - 21
7-140434565-G-A c.2133C>T p.L711= Synonymous 18/18 - 2
7-140434565-G-C c.2133C>G p.L711= Synonymous 18/18 - 1
7-140434565-G-T c.2133C>A p.L711= Synonymous 18/18 - 1
7-140434566-A-G c.2132T>C p.L711P Missense 18/18 - 1
7-140434567-G-A c.2131C>T p.L711F Missense 18/18 - 4
7-140434567-G-T c.2131C>A p.L711I Missense 18/18 - 1
7-140434568-A-ACTCC c.2129_2130insGGAG p.I710Mfs*7 SpliceAcceptorInsertion 18/18 - 1
7-140434567-G-GA c.2130dup p.L711Sfs*5 SpliceAcceptorInsertion 18/18 - 1
7-140434569-A-C c.2129T>G p.I710S Missense 18/18 - 1
7-140434570-T-A c.2128A>T p.I710F Missense 18/18 - 2
7-140434572-T-TA c.2128-3dup - IntronicInsertion - 17/17 1
7-140434575-A-C c.2128-5T>G - IntronicSNV - 17/17 1
7-140434575-A-G c.2128-5T>C - IntronicSNV - 17/17 1
7-140434586-G-A c.2128-16C>T - IntronicSNV - 17/17 6
7-140434586-G-T c.2128-16C>A - IntronicSNV - 17/17 6
7-140434597-G-A c.2128-27C>T - IntronicSNV - 17/17 2
7-140434604-A-G c.2128-34T>C - IntronicSNV - 17/17 2
7-140434607-G-A c.2128-37C>T - IntronicSNV - 17/17 1
7-140434620-A-G c.2128-50T>C - IntronicSNV - 17/17 3
7-140434845-T-C c.2128-275A>G - IntronicSNV - 17/17 1
7-140435077-A-G c.2128-507T>C - IntronicSNV - 17/17 1
7-140435163-T-C c.2128-593A>G - IntronicSNV - 17/17 1
7-140436560-G-A c.2128-1990C>T - IntronicSNV - 17/17 1
7-140436764-C-T c.2128-2194G>A - IntronicSNV - 17/17 1
7-140437115-C-G c.2127+2497G>C - IntronicSNV - 17/17 1
7-140438323-T-C c.2127+1289A>G - IntronicSNV - 17/17 1
7-140438422-T-C c.2127+1190A>G - IntronicSNV - 17/17 1
7-140438769-A-G c.2127+843T>C - IntronicSNV - 17/17 1
7-140439499-C-T c.2127+113G>A - IntronicSNV - 17/17 1
7-140439596-T-C c.2127+16A>G - IntronicSNV - 17/17 1
7-140439603-T-C c.2127+9A>G - IntronicSNV - 17/17 1
7-140439608-T-A c.2127+4A>T - IntronicSNV - 17/17 1
7-140439609-T-C c.2127+3A>G - IntronicSNV - 17/17 2
7-140439611-C-A c.2127+1G>T - IntronicSNV - 17/17 1
7-140439612-T-A c.2127A>T p.Q709H Missense 17/18 - 1
7-140439612-T-G c.2127A>C p.Q709H Missense 17/18 - 1
7-140439613-T-C c.2126A>G p.Q709R Missense 17/18 - 19
7-140439614-G-A c.2125C>T p.Q709* Nonsense 17/18 - 1
7-140439614-G-T c.2125C>A p.Q709K Missense 17/18 - 3
7-140439615-G-A c.2124C>T p.P708= Synonymous 17/18 - 3
7-140439615-G-C c.2124C>G p.P708= Synonymous 17/18 - 1
7-140439615-G-T c.2124C>A p.P708= Synonymous 17/18 - 2
7-140439616-G-A c.2123C>T p.P708L Missense 17/18 - 2
7-140439616-G-T c.2123C>A p.P708H Missense 17/18 - 1
7-140439617-G-A c.2122C>T p.P708S Missense 17/18 - 5
7-140439617-G-C c.2122C>G p.P708A Missense 17/18 - 1
7-140439617-G-T c.2122C>A p.P708T Missense 17/18 - 1
7-140439618-A-C c.2121T>G p.F707L Missense 17/18 - 3
7-140439618-A-T c.2121T>A p.F707L Missense 17/18 - 3
7-140439620-A-G c.2119T>C p.F707L Missense 17/18 - 3
7-140439620-A-T c.2119T>A p.F707I Missense 17/18 - 1
7-140439622-AG-CT c.2116_2117inv p.L706S Missense 17/18 - 7
7-140439623-G-A c.2116C>T p.L706F Missense 17/18 - 1
7-140439624-T-C c.2115A>G p.P705= Synonymous 17/18 - 1
7-140439625-G-A c.2114C>T p.P705L Missense 17/18 - 1
7-140439625-G-C c.2114C>G p.P705R Missense 17/18 - 1
7-140439625-G-T c.2114C>A p.P705Q Missense 17/18 - 2
7-140439626-G-A c.2113C>T p.P705S Missense 17/18 - 1
7-140439626-G-C c.2113C>G p.P705A Missense 17/18 - 2
7-140439626-G-T c.2113C>A p.P705T Missense 17/18 - 1
7-140439627-T-C c.2112A>G p.R704= Synonymous 17/18 - 2
7-140439629-T-G c.2110A>C p.R704= Synonymous 17/18 - 1
7-140439628-C-A c.2111G>T p.R704I Missense 17/18 - 1
7-140439628-C-T c.2111G>A p.R704K Missense 17/18 - 1
7-140439628-CT-TG c.2110_2111delinsCA p.R704Q Missense 17/18 - 1
7-140439629-T-C c.2110A>G p.R704G Missense 17/18 - 1
7-140439630-C-A c.2109G>T p.E703D Missense 17/18 - 1
7-140439630-C-G c.2109G>C p.E703D Missense 17/18 - 1
7-140439631-T-C c.2108A>G p.E703G Missense 17/18 - 1
7-140439632-C-A c.2107G>T p.E703* Nonsense 17/18 - 3
7-140439632-C-T c.2107G>A p.E703K Missense 17/18 - 1
7-140439633-A-G c.2106T>C p.D702= Synonymous 17/18 - 3
7-140439633-A-T c.2106T>A p.D702E Missense 17/18 - 1
7-140439633-CA-C c.2106del p.D702Efs*32 Frameshift 17/18 - 1
7-140439634-T-G c.2105A>C p.D702A Missense 17/18 - 1
7-140439635-C-A c.2104G>T p.D702Y Missense 17/18 - 2
7-140439635-C-G c.2104G>C p.D702H Missense 17/18 - 1
7-140439636-T-C c.2103A>G p.R701= Synonymous 17/18 - 1
7-140439636-TCT-CCA c.2101_2103delinsTGG p.R701W Missense 17/18 - 1
7-140439637-C-G c.2102G>C p.R701T Missense 17/18 - 2
7-140439638-T-C c.2101A>G p.R701G Missense 17/18 - 1
7-140439637-CTTT-C c.2099_2101del p.K700del InFrameDeletion 17/18 - 1
7-140439640-T-C c.2099A>G p.K700R Missense 17/18 - 2
7-140439641-T-C c.2098A>G p.K700E Missense 17/18 - 6
7-140439642-C-T c.2097G>A p.K699= Synonymous 17/18 - 1
7-140439643-T-C c.2096A>G p.K699R Missense 17/18 - 1
7-140439643-T-G c.2096A>C p.K699T Missense 17/18 - 2
7-140439644-T-C c.2095A>G p.K699E Missense 17/18 - 1
7-140439646-T-C c.2093A>G p.K698R Missense 17/18 - 17
7-140439648-G-A c.2091C>T p.L697= Synonymous 17/18 - 2
7-140439648-G-T c.2091C>A p.L697= Synonymous 17/18 - 1
7-140439649-A-G c.2090T>C p.L697P Missense 17/18 - 2
7-140439649-A-T c.2090T>A p.L697H Missense 17/18 - 1
7-140439650-G-A c.2089C>T p.L697F Missense 17/18 - 1
7-140439650-G-T c.2089C>A p.L697I Missense 17/18 - 1
7-140439651-G-A c.2088C>T p.C696= Synonymous 17/18 - 1
7-140439651-G-T c.2088C>A p.C696* Nonsense 17/18 - 1
7-140439652-C-A c.2087G>T p.C696F Missense 17/18 - 1
7-140439654-C-A c.2085G>T p.E695D Missense 17/18 - 1
7-140439655-T-C c.2084A>G p.E695G Missense 17/18 - 1
7-140439656-C-A c.2083G>T p.E695* Nonsense 17/18 - 2
7-140439656-C-G c.2083G>C p.E695Q Missense 17/18 - 18
7-140439656-C-T c.2083G>A p.E695K Missense 17/18 - 20
7-140439657-T-A c.2082A>T p.A694= Synonymous 17/18 - 1
7-140439657-T-C c.2082A>G p.A694= Synonymous 17/18 - 1
7-140439657-T-G c.2082A>C p.A694= Synonymous 17/18 - 1
7-140439658-G-A c.2081C>T p.A694V Missense 17/18 - 3
7-140439659-C-A c.2080G>T p.A694S Missense 17/18 - 2
7-140439659-C-G c.2080G>C p.A694P Missense 17/18 - 1
7-140439659-C-T c.2080G>A p.A694T Missense 17/18 - 4
7-140439660-C-A c.2079G>T p.M693I Missense 17/18 - 2
7-140439660-C-G c.2079G>C p.M693I Missense 17/18 - 1
7-140439660-C-T c.2079G>A p.M693I Missense 17/18 - 1
7-140439661-A-T c.2078T>A p.M693K Missense 17/18 - 1
7-140439662-T-C c.2077A>G p.M693V Missense 17/18 - 3
7-140439663-T-C c.2076A>G p.L692= Synonymous 17/18 - 1
7-140439664-A-C c.2075T>G p.L692* Nonsense 17/18 - 1
7-140439664-A-G c.2075T>C p.L692S Missense 17/18 - 3
7-140439664-A-T c.2075T>A p.L692* Nonsense 17/18 - 1
7-140439666-TCT-ATG c.2071_2073delinsCAT p.R691H Missense 17/18 - 1
7-140439666-TCT-CCA c.2071_2073delinsTGG p.R691W Missense 17/18 - 1
7-140439667-C-A c.2072G>T p.R691I Missense 17/18 - 1
7-140439669-C-A c.2070G>T p.K690N Missense 17/18 - 1
7-140439669-C-G c.2070G>C p.K690N Missense 17/18 - 1
7-140439669-C-T c.2070G>A p.K690= Synonymous 17/18 - 1
7-140439667-CTCT-C c.2069_2071del p.K690del InFrameDeletion 17/18 - 1
7-140439670-T-C c.2069A>G p.K690R Missense 17/18 - 1
7-140439669-CTTCA-C c.2066_2069del p.M689Rfs*3 Frameshift 17/18 - 1
7-140439671-T-A c.2068A>T p.K690* Nonsense 17/18 - 1
7-140439671-T-C c.2068A>G p.K690E Missense 17/18 - 2
7-140439671-T-TA c.2067_2068insT p.K690* Nonsense 17/18 - 1
7-140439672-C-A c.2067G>T p.M689I Missense 17/18 - 8
7-140439672-C-G c.2067G>C p.M689I Missense 17/18 - 3
7-140439672-C-T c.2067G>A p.M689I Missense 17/18 - 4
7-140439674-T-C c.2065A>G p.M689V Missense 17/18 - 2
7-140439674-T-G c.2065A>C p.M689L Missense 17/18 - 1
7-140439675-G-T c.2064C>A p.A688= Synonymous 17/18 - 1
7-140439676-G-A c.2063C>T p.A688V Missense 17/18 - 3
7-140439676-GC-CG c.2062_2063delinsCG p.A688R Missense 17/18 - 8
7-140439676-G-T c.2063C>A p.A688D Missense 17/18 - 2
7-140439677-C-A c.2062G>T p.A688S Missense 17/18 - 2
7-140439678-T-C c.2061A>G p.K687= Synonymous 17/18 - 1
7-140439678-TTT-GTC c.2059_2061delinsGAC p.K687D Missense 17/18 - 1
7-140439679-T-A c.2060A>T p.K687I Missense 17/18 - 1
7-140439679-T-C c.2060A>G p.K687R Missense 17/18 - 2
7-140439679-T-G c.2060A>C p.K687T Missense 17/18 - 1
7-140439680-T-C c.2059A>G p.K687E Missense 17/18 - 8
7-140439677-CT-C c.2061del p.A688Pfs*2 Frameshift 17/18 - 1
7-140439682-G-A c.2057C>T p.P686L Missense 17/18 - 2
7-140439682-G-T c.2057C>A p.P686Q Missense 17/18 - 2
7-140439683-G-A c.2056C>T p.P686S Missense 17/18 - 1
7-140439683-G-T c.2056C>A p.P686T Missense 17/18 - 1
7-140439684-A-C c.2055T>G p.C685W Missense 17/18 - 1
7-140439684-A-G c.2055T>C p.C685= Synonymous 17/18 - 1
7-140439685-C-A c.2054G>T p.C685F Missense 17/18 - 1
7-140439685-C-T c.2054G>A p.C685Y Missense 17/18 - 1
7-140439685-C-G c.2054G>C p.C685S Missense 17/18 - 2
7-140439686-A-G c.2053T>C p.C685R Missense 17/18 - 1
7-140439686-A-T c.2053T>A p.C685S Missense 17/18 - 2
7-140439687-G-A c.2052C>T p.N684= Synonymous 17/18 - 1
7-140439688-T-C c.2051A>G p.N684S Missense 17/18 - 1
7-140439688-T-G c.2051A>C p.N684T Missense 17/18 - 2
7-140439689-T-C c.2050A>G p.N684D Missense 17/18 - 1
7-140439691-C-A c.2048G>T p.S683I Missense 17/18 - 1
7-140439691-C-T c.2048G>A p.S683N Missense 17/18 - 2
7-140439691-CT-GG c.2047_2048delinsCC p.S683P Missense 17/18 - 1
7-140439692-T-C c.2047A>G p.S683G Missense 17/18 - 3
7-140439693-CC-AT c.2045_2046delinsAT p.R682H Missense 17/18 - 2
7-140439693-CCG-ACA c.2044_2046delinsTGT p.R682C Missense 17/18 - 2
7-140439694-C-A c.2045G>T p.R682L Missense 17/18 - 2
7-140439694-C-G c.2045G>C p.R682P Missense 17/18 - 1
7-140439694-C-T c.2045G>A p.R682Q Missense 17/18 - 6
7-140439695-G-A c.2044C>T p.R682W Missense 17/18 - 14
7-140439698-C-A c.2041G>T p.V681L Missense 17/18 - 2
7-140439698-C-T c.2041G>A p.V681I Missense 17/18 - 2
7-140439699-C-A c.2040G>T p.K680N Missense 17/18 - 2
7-140439699-C-G c.2040G>C p.K680N Missense 17/18 - 1
7-140439699-C-T c.2040G>A p.K680= Synonymous 17/18 - 1
7-140439700-T-C c.2039A>G p.K680R Missense 17/18 - 1
7-140439703-C-A c.2036G>T p.S679I Missense 17/18 - 1
7-140439703-C-T c.2036G>A p.S679N Missense 17/18 - 3
7-140439704-T-C c.2035A>G p.S679G Missense 17/18 - 2
7-140439705-G-A c.2034C>T p.L678= Synonymous 17/18 - 1
7-140439705-GAG-CAT c.2032_2034delinsATG p.L678M Missense 17/18 - 1
7-140439705-G-C c.2034C>G p.L678= Synonymous 17/18 - 1
7-140439705-G-T c.2034C>A p.L678= Synonymous 17/18 - 2
7-140439706-A-G c.2033T>C p.L678P Missense 17/18 - 1
7-140439707-AG-A c.2032del p.L678Sfs*12 Frameshift 17/18 - 1
7-140439707-G-T c.2032C>A p.L678I Missense 17/18 - 6
7-140439709-T-A c.2030A>T p.D677V Missense 17/18 - 1
7-140439710-C-A c.2029G>T p.D677Y Missense 17/18 - 1
7-140439710-C-T c.2029G>A p.D677N Missense 17/18 - 1
7-140439712-G-A c.2027C>T p.P676L Missense 17/18 - 1
7-140439713-G-A c.2026C>T p.P676S Missense 17/18 - 3
7-140439713-G-C c.2026C>G p.P676A Missense 17/18 - 1
7-140439714-AGA-CTC c.2023_2025delinsGAG p.S675E Missense 17/18 - 1
7-140439715-G-A c.2024C>T p.S675F Missense 17/18 - 1
7-140439715-G-GTAT c.2023_2024insATA p.S675delinsYT MultiAAMissense 17/18 - 1
7-140439716-A-C c.2023T>G p.S675A Missense 17/18 - 2
7-140439717-C-A c.2022G>T p.L674= Synonymous 17/18 - 2
7-140439717-C-G c.2022G>C p.L674= Synonymous 17/18 - 1
7-140439717-C-T c.2022G>A p.L674= Synonymous 17/18 - 2
7-140439719-G-A c.2020C>T p.L674= Synonymous 17/18 - 2
7-140439718-A-C c.2021T>G p.L674R Missense 17/18 - 1
7-140439718-A-G c.2021T>C p.L674P Missense 17/18 - 1
7-140439718-A-T c.2021T>A p.L674Q Missense 17/18 - 1
7-140439720-G-A c.2019C>T p.Y673= Synonymous 17/18 - 1
7-140439721-T-G c.2018A>C p.Y673S Missense 17/18 - 7
7-140439722-A-G c.2017T>C p.Y673H Missense 17/18 - 1
7-140439723-TCC-GCT c.2014_2016delinsAGC p.G672S Missense 17/18 - 1
7-140439724-C-A c.2015G>T p.G672V Missense 17/18 - 1
7-140439725-C-A c.2014G>T p.G672* Nonsense 17/18 - 1
7-140439725-C-G c.2014G>C p.G672R Missense 17/18 - 1
7-140439725-C-T c.2014G>A p.G672R Missense 17/18 - 3
7-140439726-TCG-ACA c.2011_2013delinsTGT p.R671C Missense 17/18 - 1
7-140439727-C-A c.2012G>T p.R671L Missense 17/18 - 1
7-140439727-C-G c.2012G>C p.R671P Missense 17/18 - 1
7-140439727-CG-TT c.2011_2012delinsAA p.R671K Missense 17/18 - 1
7-140439727-C-T c.2012G>A p.R671Q Missense 17/18 - 26
7-140439728-CG-C c.2011del p.R671Efs*19 Frameshift 17/18 - 1
7-140439728-G-A c.2011C>T p.R671* Nonsense 17/18 - 3
7-140439728-G-C c.2011C>G p.R671G Missense 17/18 - 1
7-140439728-G-T c.2011C>A p.R671= Synonymous 17/18 - 1
7-140439729-T-A c.2010A>T p.G670= Synonymous 17/18 - 1
7-140439729-T-C c.2010A>G p.G670= Synonymous 17/18 - 1
7-140439730-C-T c.2009G>A p.G670E Missense 17/18 - 2
7-140439731-C-A c.2008G>T p.G670* Nonsense 17/18 - 1
7-140439731-C-T c.2008G>A p.G670R Missense 17/18 - 1
7-140439732-C-A c.2007G>T p.V669= Synonymous 17/18 - 2
7-140439732-C-G c.2007G>C p.V669= Synonymous 17/18 - 1
7-140439732-C-T c.2007G>A p.V669= Synonymous 17/18 - 1
7-140439733-A-G c.2006T>C p.V669A Missense 17/18 - 1
7-140439734-C-A c.2005G>T p.V669L Missense 17/18 - 3
7-140439734-C-G c.2005G>C p.V669L Missense 17/18 - 1
7-140439734-C-T c.2005G>A p.V669M Missense 17/18 - 2
7-140439735-C-A c.2004G>T p.M668I Missense 17/18 - 1
7-140439736-A-G c.2003T>C p.M668T Missense 17/18 - 1
7-140439737-AT-A c.2002del p.M668Wfs*22 Frameshift 17/18 - 1
7-140439738-AAA-CTC c.1999_2001delinsGAG p.F667E Missense 17/18 - 9
7-140439739-AA-GC c.1999_2000delinsGC p.F667A Missense 17/18 - 1
7-140439738-A-C c.2001T>G p.F667L Missense 17/18 - 1
7-140439738-A-T c.2001T>A p.F667L Missense 17/18 - 1
7-140439740-A-C c.1999T>G p.F667V Missense 17/18 - 4
7-140439740-A-G c.1999T>C p.F667L Missense 17/18 - 1
7-140439741-AA-CC c.1997_1998delinsGG p.I666R Missense 17/18 - 1
7-140439741-A-G c.1998T>C p.I666= Synonymous 17/18 - 4
7-140439741-A-T c.1998T>A p.I666= Synonymous 17/18 - 3
7-140439737-T-TA c.2001dup p.M668Yfs*13 Frameshift 17/18 - 1
7-140439743-T-G c.1996A>C p.I666L Missense 17/18 - 1
7-140439744-TA-GC c.1994_1995delinsGC p.I665S Missense 17/18 - 1
7-140439987-T-A c.1993-241A>T - IntronicSNV - 16/17 1
7-140440044-A-G c.1993-298T>C - IntronicSNV - 16/17 1
7-140441491-A-G c.1993-1745T>C - IntronicSNV - 16/17 1
7-140441688-C-T c.1993-1942G>A - IntronicSNV - 16/17 1
7-140442819-C-T c.1993-3073G>A - IntronicSNV - 16/17 1
7-140443495-T-C c.1993-3749A>G - IntronicSNV - 16/17 1
7-140443783-T-C c.1993-4037A>G - IntronicSNV - 16/17 1
7-140444353-G-A c.1993-4607C>T - IntronicSNV - 16/17 1
7-140445037-C-A c.1992+4050G>T - IntronicSNV - 16/17 1
7-140445983-A-T c.1992+3104T>A - IntronicSNV - 16/17 1
7-140446364-T-C c.1992+2723A>G - IntronicSNV - 16/17 1
7-140446742-G-A c.1992+2345C>T - IntronicSNV - 16/17 1
7-140447217-A-G c.1992+1870T>C - IntronicSNV - 16/17 1
7-140447282-T-A c.1992+1805A>T - IntronicSNV - 16/17 1
7-140449039-C-T c.1992+48G>A - IntronicSNV - 16/17 1
7-140449071-C-G c.1992+16G>C - IntronicSNV - 16/17 16
7-140449071-C-T c.1992+16G>A - IntronicSNV - 16/17 9
7-140449085-A-G c.1992+2T>C - IntronicSNV - 16/17 1
7-140449086-C-A c.1992+1G>T - IntronicSNV - 16/17 1
7-140449086-C-T c.1992+1G>A - IntronicSNV - 16/17 1
7-140449087-C-A c.1992G>T p.Q664H Missense 16/18 - 2
7-140449087-CTG-ACA c.1990_1992delinsTGT p.Q664C Missense 16/18 - 1
7-140449088-T-A c.1991A>T p.Q664L Missense 16/18 - 1
7-140449089-G-C c.1990C>G p.Q664E Missense 16/18 - 1
7-140449090-G-A c.1989C>T p.D663= Synonymous 16/18 - 1
7-140449091-T-C c.1988A>G p.D663G Missense 16/18 - 1
7-140449091-T-G c.1988A>C p.D663A Missense 16/18 - 4
7-140449092-C-A c.1987G>T p.D663Y Missense 16/18 - 3
7-140449092-C-CA c.1986_1987insT p.D663* Nonsense 16/18 - 1
7-140449092-C-G c.1987G>C p.D663H Missense 16/18 - 1
7-140449092-C-T c.1987G>A p.D663N Missense 16/18 - 1
7-140449093-CCT-ATG c.1984_1986delinsCAT p.R662H Missense 16/18 - 1
7-140449094-C-T c.1985G>A p.R662K Missense 16/18 - 1
7-140449094-CT-AG c.1984_1985inv p.R662L Missense 16/18 - 1
7-140449094-CT-GC c.1984_1985delinsGC p.R662A Missense 16/18 - 1
7-140449094-CT-TG c.1984_1985delinsCA p.R662Q Missense 16/18 - 1
7-140449095-T-A c.1984A>T p.R662W Missense 16/18 - 1
7-140449095-T-C c.1984A>G p.R662G Missense 16/18 - 1
7-140449095-T-G c.1984A>C p.R662= Synonymous 16/18 - 1
7-140449096-G-A c.1983C>T p.N661= Synonymous 16/18 - 2
7-140449096-G-T c.1983C>A p.N661K Missense 16/18 - 1
7-140449097-T-C c.1982A>G p.N661S Missense 16/18 - 1
7-140449097-TT-GC c.1981_1982delinsGC p.N661A Missense 16/18 - 1
7-140449098-T-C c.1981A>G p.N661D Missense 16/18 - 1
7-140449099-G-C c.1980C>G p.N660K Missense 16/18 - 1
7-140449099-G-T c.1980C>A p.N660K Missense 16/18 - 1
7-140449101-T-C c.1978A>G p.N660D Missense 16/18 - 1
7-140449102-G-A c.1977C>T p.I659= Synonymous 16/18 - 2
7-140449102-G-C c.1977C>G p.I659M Missense 16/18 - 1
7-140449102-G-T c.1977C>A p.I659= Synonymous 16/18 - 1
7-140449103-A-C c.1976T>G p.I659S Missense 16/18 - 1
7-140449104-T-A c.1975A>T p.I659F Missense 16/18 - 1
7-140449105-G-T c.1974C>A p.N658K Missense 16/18 - 1
7-140449107-T-C c.1972A>G p.N658D Missense 16/18 - 1
7-140449107-T-G c.1972A>C p.N658H Missense 16/18 - 1
7-140449108-T-A c.1971A>T p.S657= Synonymous 16/18 - 1
7-140449108-T-C c.1971A>G p.S657= Synonymous 16/18 - 1
7-140449108-T-G c.1971A>C p.S657= Synonymous 16/18 - 1
7-140449108-TG-AC c.1970_1971delinsGT p.S657C Missense 16/18 - 1
7-140449109-G-A c.1970C>T p.S657L Missense 16/18 - 1
7-140449109-G-T c.1970C>A p.S657* Nonsense 16/18 - 1
7-140449110-A-G c.1969T>C p.S657P Missense 16/18 - 1
7-140449112-T-C c.1967A>G p.Y656C Missense 16/18 - 1
7-140449113-A-C c.1966T>G p.Y656D Missense 16/18 - 3
7-140449113-A-T c.1966T>A p.Y656N Missense 16/18 - 1
7-140449114-A-G c.1965T>C p.P655= Synonymous 16/18 - 1
7-140449115-G-A c.1964C>T p.P655L Missense 16/18 - 2
7-140449116-G-C c.1963C>G p.P655A Missense 16/18 - 2
7-140449117-T-C c.1962A>G p.L654= Synonymous 16/18 - 1
7-140449119-A-G c.1960T>C p.L654= Synonymous 16/18 - 2
7-140449120-C-A c.1959G>T p.Q653H Missense 16/18 - 3
7-140449120-C-G c.1959G>C p.Q653H Missense 16/18 - 1
7-140449120-C-T c.1959G>A p.Q653= Synonymous 16/18 - 3
7-140449122-G-A c.1957C>T p.Q653* Nonsense 16/18 - 1
7-140449122-G-T c.1957C>A p.Q653K Missense 16/18 - 2
7-140449123-T-C c.1956A>G p.G652= Synonymous 16/18 - 1
7-140449124-C-A c.1955G>T p.G652V Missense 16/18 - 2
7-140449124-C-T c.1955G>A p.G652E Missense 16/18 - 1
7-140449125-C-A c.1954G>T p.G652* Nonsense 16/18 - 1
7-140449125-C-G c.1954G>C p.G652R Missense 16/18 - 1
7-140449125-C-T c.1954G>A p.G652R Missense 16/18 - 3
7-140449127-G-A c.1952C>T p.T651I Missense 16/18 - 1
7-140449128-T-C c.1951A>G p.T651A Missense 16/18 - 1
7-140449128-T-G c.1951A>C p.T651P Missense 16/18 - 1
7-140449129-C-A c.1950G>T p.M650I Missense 16/18 - 2
7-140449129-C-T c.1950G>A p.M650I Missense 16/18 - 1
7-140449131-T-C c.1948A>G p.M650V Missense 16/18 - 3
7-140449132-C-A c.1947G>T p.L649F Missense 16/18 - 1
7-140449132-C-T c.1947G>A p.L649= Synonymous 16/18 - 2
7-140449134-A-T c.1945T>A p.L649M Missense 16/18 - 1
7-140449135-T-A c.1944A>T p.E648D Missense 16/18 - 1
7-140449135-T-G c.1944A>C p.E648D Missense 16/18 - 1
7-140449136-T-C c.1943A>G p.E648G Missense 16/18 - 1
7-140449137-C-A c.1942G>T p.E648* Nonsense 16/18 - 1
7-140449137-C-G c.1942G>C p.E648Q Missense 16/18 - 7
7-140449137-C-T c.1942G>A p.E648K Missense 16/18 - 1
7-140449138-A-C c.1941T>G p.Y647* Nonsense 16/18 - 1
7-140449138-A-G c.1941T>C p.Y647= Synonymous 16/18 - 1
7-140449138-A-T c.1941T>A p.Y647* Nonsense 16/18 - 2
7-140449139-T-C c.1940A>G p.Y647C Missense 16/18 - 2
7-140449140-A-C c.1939T>G p.Y647D Missense 16/18 - 2
7-140449141-C-A c.1938G>T p.L646= Synonymous 16/18 - 1
7-140449142-A-C c.1937T>G p.L646R Missense 16/18 - 1
7-140449143-G-A c.1936C>T p.L646= Synonymous 16/18 - 1
7-140449143-G-C c.1936C>G p.L646V Missense 16/18 - 1
7-140449144-A-G c.1935T>C p.V645= Synonymous 16/18 - 1
7-140449146-C-A c.1933G>T p.V645F Missense 16/18 - 1
7-140449146-C-T c.1933G>A p.V645I Missense 16/18 - 4
7-140449147-A-C c.1932T>G p.I644M Missense 16/18 - 1
7-140449148-A-G c.1931T>C p.I644T Missense 16/18 - 1
7-140449150-T-A c.1929A>T p.G643= Synonymous 16/18 - 11
7-140449150-T-C c.1929A>G p.G643= Synonymous 16/18 - 41
7-140449150-TCC-ACA c.1927_1929delinsTGT p.G643C Missense 16/18 - 1
7-140449150-T-G c.1929A>C p.G643= Synonymous 16/18 - 9
7-140449151-C-A c.1928G>T p.G643V Missense 16/18 - 1
7-140449151-C-T c.1928G>A p.G643E Missense 16/18 - 1
7-140449152-C-A c.1927G>T p.G643* Nonsense 16/18 - 1
7-140449152-C-T c.1927G>A p.G643R Missense 16/18 - 2
7-140449153-A-T c.1926T>A p.F642L Missense 16/18 - 2
7-140449153-A-C c.1926T>G p.F642L Missense 16/18 - 1
7-140449155-A-G c.1924T>C p.F642L Missense 16/18 - 1
7-140449157-G-A c.1922C>T p.A641V Missense 16/18 - 1
7-140449158-C-A c.1921G>T p.A641S Missense 16/18 - 1
7-140449158-C-T c.1921G>A p.A641T Missense 16/18 - 1
7-140449160-T-A c.1919A>T p.Y640F Missense 16/18 - 1
7-140449161-A-G c.1918T>C p.Y640H Missense 16/18 - 1
7-140449162-T-A c.1917A>T p.V639= Synonymous 16/18 - 1
7-140449164-C-A c.1915G>T p.V639L Missense 16/18 - 1
7-140449164-C-G c.1915G>C p.V639L Missense 16/18 - 1
7-140449164-C-T c.1915G>A p.V639I Missense 16/18 - 9
7-140449165-A-C c.1914T>G p.D638E Missense 16/18 - 27
7-140449165-A-T c.1914T>A p.D638E Missense 16/18 - 17
7-140449166-T-C c.1913A>G p.D638G Missense 16/18 - 1
7-140449167-C-A c.1912G>T p.D638Y Missense 16/18 - 2
7-140449167-C-T c.1912G>A p.D638N Missense 16/18 - 2
7-140449168-TG-AA c.1910_1911delinsTT p.S637F Missense 16/18 - 1
7-140449168-TGA-GTC c.1909_1911delinsGAC p.S637D Missense 16/18 - 1
7-140449169-G-A c.1910C>T p.S637L Missense 16/18 - 3
7-140449169-G-C c.1910C>G p.S637* Nonsense 16/18 - 6
7-140449169-G-T c.1910C>A p.S637* Nonsense 16/18 - 4
7-140449170-A-C c.1909T>G p.S637A Missense 16/18 - 1
7-140449170-A-G c.1909T>C p.S637P Missense 16/18 - 6
7-140449171-C-A c.1908G>T p.Q636H Missense 16/18 - 1
7-140449171-C-T c.1908G>A p.Q636= Synonymous 16/18 - 1
7-140449172-T-C c.1907A>G p.Q636R Missense 16/18 - 1
7-140449173-G-A c.1906C>T p.Q636* Nonsense 16/18 - 8
7-140449173-G-C c.1906C>G p.Q636E Missense 16/18 - 3
7-140449173-G-T c.1906C>A p.Q636K Missense 16/18 - 1
7-140449174-A-C c.1905T>G p.F635L Missense 16/18 - 2
7-140449174-A-T c.1905T>A p.F635L Missense 16/18 - 2
7-140449176-A-G c.1903T>C p.F635L Missense 16/18 - 2
7-140449176-A-T c.1903T>A p.F635I Missense 16/18 - 6
7-140449178-C-A c.1901G>T p.S634I Missense 16/18 - 2
7-140449181-T-C c.1898A>G p.Y633C Missense 16/18 - 7
7-140449182-A-G c.1897T>C p.Y633H Missense 16/18 - 2
7-140449184-G-A c.1895C>T p.P632L Missense 16/18 - 2
7-140449184-G-T c.1895C>A p.P632Q Missense 16/18 - 2
7-140449185-G-A c.1894C>T p.P632S Missense 16/18 - 7
7-140449187-T-C c.1892A>G p.N631S Missense 16/18 - 1
7-140449187-TT-AA c.1891_1892inv p.N631F Missense 16/18 - 3
7-140449189-T-A c.1890A>T p.K630N Missense 16/18 - 1
7-140449189-T-G c.1890A>C p.K630N Missense 16/18 - 1
7-140449189-TT-GC c.1889_1890delinsGC p.K630S Missense 16/18 - 8
7-140449191-T-C c.1888A>G p.K630E Missense 16/18 - 1
7-140449191-T-G c.1888A>C p.K630Q Missense 16/18 - 1
7-140449193-T-C c.1886A>G p.D629G Missense 16/18 - 1
7-140449194-C-A c.1885G>T p.D629Y Missense 16/18 - 2
7-140449194-C-T c.1885G>A p.D629N Missense 16/18 - 3
7-140449195-T-C c.1884A>G p.Q628= Synonymous 16/18 - 1
7-140449196-T-G c.1883A>C p.Q628P Missense 16/18 - 1
7-140449197-G-A c.1882C>T p.Q628* Nonsense 16/18 - 1
7-140449198-C-A c.1881G>T p.M627I Missense 16/18 - 1
7-140449198-C-G c.1881G>C p.M627I Missense 16/18 - 1
7-140449201-TCT-ATA c.1876_1878delinsTAT p.R626Y Missense 16/18 - 1
7-140449201-TCT-ATG c.1876_1878delinsCAT p.R626H Missense 16/18 - 2
7-140449202-C-A c.1877G>T p.R626I Missense 16/18 - 4
7-140449202-C-T c.1877G>A p.R626K Missense 16/18 - 2
7-140449202-CT-TG c.1876_1877delinsCA p.R626Q Missense 16/18 - 1
7-140449203-T-C c.1876A>G p.R626G Missense 16/18 - 1
7-140449204-G-A c.1875C>T p.I625= Synonymous 16/18 - 2
7-140449204-G-C c.1875C>G p.I625M Missense 16/18 - 1
7-140449205-A-G c.1874T>C p.I625T Missense 16/18 - 1
7-140449206-T-A c.1873A>T p.I625F Missense 16/18 - 1
7-140449206-T-C c.1873A>G p.I625V Missense 16/18 - 3
7-140449206-T-G c.1873A>C p.I625L Missense 16/18 - 1
7-140449207-G-T c.1872C>A p.V624= Synonymous 16/18 - 2
7-140449208-A-G c.1871T>C p.V624A Missense 16/18 - 1
7-140449208-A-T c.1871T>A p.V624D Missense 16/18 - 1
7-140449209-C-A c.1870G>T p.V624F Missense 16/18 - 3
7-140449209-C-G c.1870G>C p.V624L Missense 16/18 - 1
7-140449209-C-T c.1870G>A p.V624I Missense 16/18 - 2
7-140449210-T-C c.1869A>G p.E623= Synonymous 16/18 - 1
7-140449211-T-A c.1868A>T p.E623V Missense 16/18 - 1
7-140449212-C-CA c.1866_1867insT p.E623* Nonsense 16/18 - 1
7-140449212-C-G c.1867G>C p.E623Q Missense 16/18 - 1
7-140449212-C-T c.1867G>A p.E623K Missense 16/18 - 5
7-140449213-T-A c.1866A>T p.P622= Synonymous 16/18 - 1
7-140449213-T-C c.1866A>G p.P622= Synonymous 16/18 - 1
7-140449213-T-G c.1866A>C p.P622= Synonymous 16/18 - 1
7-140449214-G-A c.1865C>T p.P622L Missense 16/18 - 2
7-140449215-G-C c.1864C>G p.P622A Missense 16/18 - 2
7-140449215-G-T c.1864C>A p.P622T Missense 16/18 - 1
7-140449216-T-C c.1863A>G p.A621= Synonymous 16/18 - 1
7-140449218-C-A c.1861G>T p.A621S Missense 16/18 - 2
7-140449218-C-T c.1861G>A p.A621T Missense 16/18 - 1
7-140449834-C-T c.1861-616G>A - IntronicSNV - 15/17 2
7-140449973-T-C c.1861-755A>G - IntronicSNV - 15/17 1
7-140450145-C-A c.1861-927G>T - IntronicSNV - 15/17 1
7-140450216-C-A c.1861-998G>T - IntronicSNV - 15/17 1
7-140450281-C-T c.1861-1063G>A - IntronicSNV - 15/17 1
7-140450286-A-G c.1861-1068T>C - IntronicSNV - 15/17 1
7-140450335-T-C c.1861-1117A>G - IntronicSNV - 15/17 1
7-140450945-G-A c.1861-1727C>T - IntronicSNV - 15/17 1
7-140451526-A-G c.1860+1549T>C - IntronicSNV - 15/17 1
7-140452159-C-T c.1860+916G>A - IntronicSNV - 15/17 1
7-140452363-C-A c.1860+712G>T - IntronicSNV - 15/17 2
7-140452363-C-G c.1860+712G>C - IntronicSNV - 15/17 2
7-140452967-T-C c.1860+108A>G - IntronicSNV - 15/17 2
7-140453067-A-T c.1860+8T>A - IntronicSNV - 15/17 1
7-140453072-T-C c.1860+3A>G - IntronicSNV - 15/17 1
7-140453074-C-A c.1860+1G>T - IntronicSNV - 15/17 4
7-140453074-C-CT c.1860_1860+1insA p.A621Sfs*10 SpliceDonorInsertion - - 1
7-140453074-C-T c.1860+1G>A - IntronicSNV - 15/17 1
7-140453075-C-A c.1860G>T p.M620I Missense 15/18 - 3
7-140453075-C-G c.1860G>C p.M620I Missense 15/18 - 2
7-140453075-C-T c.1860G>A p.M620I Missense 15/18 - 3
7-140453076-A-T c.1859T>A p.M620K Missense 15/18 - 1
7-140453078-C-A c.1857G>T p.W619C Missense 15/18 - 3
7-140453078-C-G c.1857G>C p.W619C Missense 15/18 - 2
7-140453078-C-T c.1857G>A p.W619* Nonsense 15/18 - 2
7-140453079-C-A c.1856G>T p.W619L Missense 15/18 - 1
7-140453079-C-T c.1856G>A p.W619* Nonsense 15/18 - 2
7-140453080-A-G c.1855T>C p.W619R Missense 15/18 - 4
7-140453080-A-T c.1855T>A p.W619R Missense 15/18 - 4
7-140453081-C-A c.1854G>T p.L618F Missense 15/18 - 4
7-140453081-C-G c.1854G>C p.L618F Missense 15/18 - 2
7-140453082-A-C c.1853T>G p.L618W Missense 15/18 - 5
7-140453082-A-G c.1853T>C p.L618S Missense 15/18 - 6
7-140453083-A-C c.1852T>G p.L618V Missense 15/18 - 3
7-140453083-A-T c.1852T>A p.L618M Missense 15/18 - 2
7-140453084-AA-CC c.1850_1851delinsGG p.I617R Missense 15/18 - 2
7-140453085-A-G c.1850T>C p.I617T Missense 15/18 - 4
7-140453086-T-A c.1849A>T p.I617F Missense 15/18 - 2
7-140453086-T-C c.1849A>G p.I617V Missense 15/18 - 1
7-140453086-T-G c.1849A>C p.I617L Missense 15/18 - 1
7-140453087-G-A c.1848C>T p.S616= Synonymous 15/18 - 3
7-140453087-G-C c.1848C>G p.S616= Synonymous 15/18 - 1
7-140453087-GGA-CTC c.1846_1848delinsGAG p.S616E Missense 15/18 - 1
7-140453087-G-T c.1848C>A p.S616= Synonymous 15/18 - 1
7-140453086-TG-T c.1848del p.I617Ffs*33 Frameshift 15/18 - 1
7-140453088-G-A c.1847C>T p.S616F Missense 15/18 - 21
7-140453088-GA-TC c.1846_1847inv p.S616D Missense 15/18 - 2
7-140453089-A-C c.1846T>G p.S616A Missense 15/18 - 1
7-140453089-A-G c.1846T>C p.S616P Missense 15/18 - 6
7-140453090-T-C c.1845A>G p.G615= Synonymous 15/18 - 1
7-140453090-TCC-GCT c.1843_1845delinsAGC p.G615S Missense 15/18 - 1
7-140453091-C-A c.1844G>T p.G615V Missense 15/18 - 2
7-140453091-C-T c.1844G>A p.G615E Missense 15/18 - 3
7-140453092-C-A c.1843G>T p.G615* Nonsense 15/18 - 1
7-140453092-C-G c.1843G>C p.G615R Missense 15/18 - 11
7-140453092-C-T c.1843G>A p.G615R Missense 15/18 - 14
7-140453093-A-C c.1842T>G p.S614= Synonymous 15/18 - 1
7-140453093-A-G c.1842T>C p.S614= Synonymous 15/18 - 1
7-140453093-A-T c.1842T>A p.S614= Synonymous 15/18 - 1
7-140453094-G-A c.1841C>T p.S614F Missense 15/18 - 1
7-140453094-GA-AT c.1840_1841delinsAT p.S614I Missense 15/18 - 1
7-140453094-GA-CG c.1840_1841delinsCG p.S614R Missense 15/18 - 1
7-140453094-G-T c.1841C>A p.S614Y Missense 15/18 - 2
7-140453095-A-G c.1840T>C p.S614P Missense 15/18 - 11
7-140453096-C-A c.1839G>T p.L613F Missense 15/18 - 17
7-140453096-C-G c.1839G>C p.L613F Missense 15/18 - 14
7-140453096-C-T c.1839G>A p.L613= Synonymous 15/18 - 1
7-140453096-C-CA c.1838dup p.L613Ffs*18 Frameshift 15/18 - 1
7-140453098-A-C c.1837T>G p.L613V Missense 15/18 - 11
7-140453098-A-T c.1837T>A p.L613M Missense 15/18 - 1
7-140453099-C-A c.1836G>T p.Q612H Missense 15/18 - 1
7-140453099-C-T c.1836G>A p.Q612= Synonymous 15/18 - 1
7-140453100-T-A c.1835A>T p.Q612L Missense 15/18 - 1
7-140453100-T-C c.1835A>G p.Q612R Missense 15/18 - 1
7-140453100-T-G c.1835A>C p.Q612P Missense 15/18 - 1
7-140453101-G-A c.1834C>T p.Q612* Nonsense 15/18 - 6
7-140453101-G-C c.1834C>G p.Q612E Missense 15/18 - 2
7-140453101-G-T c.1834C>A p.Q612K Missense 15/18 - 2
7-140453102-T-A c.1833A>T p.E611D Missense 15/18 - 1
7-140453102-T-C c.1833A>G p.E611= Synonymous 15/18 - 1
7-140453102-T-G c.1833A>C p.E611D Missense 15/18 - 1
7-140453103-T-C c.1832A>G p.E611G Missense 15/18 - 4
7-140453103-T-G c.1832A>C p.E611A Missense 15/18 - 1
7-140453104-C-A c.1831G>T p.E611* Nonsense 15/18 - 5
7-140453104-C-G c.1831G>C p.E611Q Missense 15/18 - 2
7-140453104-C-T c.1831G>A p.E611K Missense 15/18 - 3
7-140453106-A-G c.1829T>C p.F610S Missense 15/18 - 3
7-140453104-CA-C c.1830del p.F610Lfs*40 Frameshift 15/18 - 1
7-140453104-C-CA c.1830dup p.E611* Nonsense 15/18 - 1
7-140453105-A-C c.1830T>G p.F610L Missense 15/18 - 3
7-140453105-A-T c.1830T>A p.F610L Missense 15/18 - 3
7-140453107-A-G c.1828T>C p.F610L Missense 15/18 - 4
7-140453108-C-A c.1827G>T p.Q609H Missense 15/18 - 12
7-140453108-C-CA c.1826_1827insT p.Q609Hfs*3 Frameshift 15/18 - 1
7-140453108-C-G c.1827G>C p.Q609H Missense 15/18 - 9
7-140453108-C-T c.1827G>A p.Q609= Synonymous 15/18 - 2
7-140453109-T-A c.1826A>T p.Q609L Missense 15/18 - 3
7-140453109-T-C c.1826A>G p.Q609R Missense 15/18 - 6
7-140453110-G-A c.1825C>T p.Q609* Nonsense 15/18 - 2
7-140453110-G-C c.1825C>G p.Q609E Missense 15/18 - 7
7-140453110-G-T c.1825C>A p.Q609K Missense 15/18 - 1
7-140453112-T-A c.1823A>T p.H608L Missense 15/18 - 3
7-140453112-T-C c.1823A>G p.H608R Missense 15/18 - 10
7-140453112-TG-CC c.1822_1823delinsGG p.H608G Missense 15/18 - 1
7-140453113-G-A c.1822C>T p.H608Y Missense 15/18 - 8
7-140453114-G-A c.1821C>T p.S607= Synonymous 15/18 - 2
7-140453114-GG-TT c.1820_1821delinsAA p.S607* Nonsense 15/18 - 1
7-140453112-TG-T c.1822del p.H608Ifs*42 Frameshift 15/18 - 1
7-140453115-G-A c.1820C>T p.S607F Missense 15/18 - 13
7-140453116-A-G c.1819T>C p.S607P Missense 15/18 - 7
7-140453117-C-A c.1818G>T p.G606= Synonymous 15/18 - 1
7-140453117-CCC-GCT c.1816_1818delinsAGC p.G606S Missense 15/18 - 2
7-140453117-C-T c.1818G>A p.G606= Synonymous 15/18 - 1
7-140453116-ACC-A c.1817_1818del p.G606Vfs*5 Frameshift 15/18 - 1
7-140453118-C-A c.1817G>T p.G606V Missense 15/18 - 5
7-140453118-CC-AG c.1816_1817delinsCT p.G606L Missense 15/18 - 3
7-140453118-C-G c.1817G>C p.G606A Missense 15/18 - 3
7-140453118-C-T c.1817G>A p.G606E Missense 15/18 - 14
7-140453119-C-A c.1816G>T p.G606W Missense 15/18 - 3
7-140453119-C-G c.1816G>C p.G606R Missense 15/18 - 8
7-140453119-C-T c.1816G>A p.G606R Missense 15/18 - 13
7-140453118-CCACTCCATCGAGATTTCA-C c.1799_1816del p.V600_S605del InFrameDeletion 15/18 - 1
7-140453120-A-C c.1815T>G p.S605R Missense 15/18 - 5
7-140453120-ACTCCATCGAGATTTCA-CTTTT c.1799_1815delinsAAAAG p.V600_S605delinsEK MultiAAMissense 15/18 - 1
7-140453120-ACT-CTTCTC c.1813_1815delinsGAGAAG p.S605delinsEK MultiAAMissense 15/18 - 1
7-140453120-A-G c.1815T>C p.S605= Synonymous 15/18 - 1
7-140453120-A-T c.1815T>A p.S605R Missense 15/18 - 5
7-140453122-T-G c.1813A>C p.S605R Missense 15/18 - 5
7-140453121-ACTCCATCGAGAT-A c.1803_1814del p.K601_S605delinsN MultiAAMissense 15/18 - 1
7-140453121-C-A c.1814G>T p.S605I Missense 15/18 - 5
7-140453121-C-T c.1814G>A p.S605N Missense 15/18 - 27
7-140453121-CT-AA c.1813_1814delinsTT p.S605F Missense 15/18 - 17
7-140453121-CTCCATCGAGATTTCA-ACAT c.1799_1814delinsATGT p.V600_S605delinsDV MultiAAMissense 15/18 - 1
7-140453121-CTCCATCGAGATTTCA-T c.1799_1814delinsA p.V600_S605delinsD MultiAAMissense 15/18 - 1
7-140453122-T-A c.1813A>T p.S605C Missense 15/18 - 3
7-140453122-T-C c.1813A>G p.S605G Missense 15/18 - 13
7-140453123-C-A c.1812G>T p.W604C Missense 15/18 - 4
7-140453123-CCA-ACCGTCTGTTTGGTC c.1810_1812delinsGACCAAACAGACGGT p.W604delinsDQTDG MultiAAMissense 15/18 - 1
7-140453123-CCA-ATG c.1810_1812delinsCAT p.W604H Missense 15/18 - 1
7-140453123-CCA-GAT c.1810_1812delinsATC p.W604I Missense 15/18 - 1
7-140453123-CCA-GTT c.1810_1812delinsAAC p.W604N Missense 15/18 - 1
7-140453123-C-G c.1812G>C p.W604C Missense 15/18 - 3
7-140453123-C-T c.1812G>A p.W604* Nonsense 15/18 - 3
7-140453123-TCCA-T c.1810_1812del p.W604del InFrameDeletion 15/18 - 3
7-140453123-TCCATCGAGATTTCAC-T c.1798_1812del p.V600_W604del InFrameDeletion 15/18 - 6
7-140453121-CTCCATCGAGATT-C c.1802_1813del p.K601_W604del InFrameDeletion 15/18 - 5
7-140453124-C-A c.1811G>T p.W604L Missense 15/18 - 9
7-140453124-C-G c.1811G>C p.W604S Missense 15/18 - 1
7-140453124-C-T c.1811G>A p.W604* Nonsense 15/18 - 4
7-140453123-CCAT-C c.1809_1811del p.W604del InFrameDeletion 15/18 - 1
7-140453123-CCATCGAGATTTCA-C c.1799_1811del p.V600Gfs*46 Frameshift 15/18 - 1
7-140453125-A-C c.1810T>G p.W604G Missense 15/18 - 7
7-140453125-A-G c.1810T>C p.W604R Missense 15/18 - 3
7-140453125-A-T c.1810T>A p.W604R Missense 15/18 - 2
7-140453125-ATCGAGATTTCACT-CATCA c.1797_1810delinsTGATG p.V600_W604delinsDG MultiAAMissense 15/18 - 1
7-140453125-ATCGAGATTTCA-CTCGAGATT c.1799_1810delinsAATCTCGAG p.V600_W604delinsESRG MultiAAMissense 15/18 - 1
7-140453126-ATCG-A c.1807_1809del p.R603del InFrameDeletion 15/18 - 1
7-140453126-TCG-AAA c.1807_1809delinsTTT p.R603F Missense 15/18 - 1
7-140453126-TCG-ACA c.1807_1809delinsTGT p.R603C Missense 15/18 - 1
7-140453126-TCGAGATTTCAC-GAGAAGAGCCAA c.1798_1809delinsTTGGCTCTTCTC p.V600_R603delinsLALL MultiAAMissense 15/18 - 1
7-140453126-TCGAGATTTCACTG-GA c.1796_1809delinsTC p.T599_R603delinsI MultiAAMissense 15/18 - 1
7-140453126-TCG-ATA c.1807_1809delinsTAT p.R603Y Missense 15/18 - 1
7-140453126-TCG-CAT c.1807_1809delinsATG p.R603M Missense 15/18 - 1
7-140453126-TCG-CCA c.1807_1809delinsTGG p.R603W Missense 15/18 - 1
7-140453126-TCG-GTT c.1807_1809delinsAAC p.R603N Missense 15/18 - 1
7-140453125-ATCGAGATTTCAC-A c.1798_1809del p.V600_R603del InFrameDeletion 15/18 - 5
7-140453127-C-A c.1808G>T p.R603L Missense 15/18 - 6
7-140453127-C-T c.1808G>A p.R603Q Missense 15/18 - 24
7-140453126-T-A c.1809A>T p.R603= Synonymous 15/18 - 1
7-140453126-T-C c.1809A>G p.R603= Synonymous 15/18 - 2
7-140453126-T-G c.1809A>C p.R603= Synonymous 15/18 - 1
7-140453128-G-A c.1807C>T p.R603* Nonsense 15/18 - 29
7-140453128-G-T c.1807C>A p.R603= Synonymous 15/18 - 1
7-140453129-A-C c.1806T>G p.S602= Synonymous 15/18 - 2
7-140453129-A-G c.1806T>C p.S602= Synonymous 15/18 - 2
7-140453129-AGA-CAT c.1804_1806delinsATG p.S602M Missense 15/18 - 1
7-140453129-AGA-CTC c.1804_1806delinsGAG p.S602E Missense 15/18 - 1
7-140453129-AGA-CTT c.1804_1806delinsAAG p.S602K Missense 15/18 - 1
7-140453129-AGA-TGTGTC c.1804_1806delinsGACACA p.S602delinsDT MultiAAMissense 15/18 - 1
7-140453129-AGA-TGTGTT c.1804_1806delinsAACACA p.S602delinsNT MultiAAMissense 15/18 - 2
7-140453129-AGA-TTG c.1804_1806delinsCAA p.S602Q Missense 15/18 - 1
7-140453129-A-T c.1806T>A p.S602= Synonymous 15/18 - 2
7-140453130-G-A c.1805C>T p.S602F Missense 15/18 - 9
7-140453130-GA-AT c.1804_1805delinsAT p.S602I Missense 15/18 - 1
7-140453130-GA-TC c.1804_1805inv p.S602D Missense 15/18 - 2
7-140453130-G-C c.1805C>G p.S602C Missense 15/18 - 1
7-140453130-G-T c.1805C>A p.S602Y Missense 15/18 - 8
7-140453131-A-C c.1804T>G p.S602A Missense 15/18 - 3
7-140453131-A-G c.1804T>C p.S602P Missense 15/18 - 3
7-140453131-A-T c.1804T>A p.S602T Missense 15/18 - 4
7-140453132-ATTT-A c.1801_1803del p.K601del InFrameDeletion 15/18 - 36
7-140453132-T-A c.1803A>T p.K601N Missense 15/18 - 157
7-140453132-T-C c.1803A>G p.K601= Synonymous 15/18 - 12
7-140453132-T-G c.1803A>C p.K601N Missense 15/18 - 139
7-140453132-TTT-AAA c.1801_1803inv p.K601F Missense 15/18 - 1
7-140453132-TTT-ACA c.1801_1803delinsTGT p.K601C Missense 15/18 - 1
7-140453132-TTTCA-AT c.1799_1803delinsAT p.V600_K601delinsD MultiAAMissense 15/18 - 2
7-140453132-TTTCA-GAGAT c.1799_1803delinsATCTC p.V600_K601delinsDL MultiAAMissense 15/18 - 1
7-140453132-TTTCA-GT c.1799_1803delinsAC p.V600_K601delinsD MultiAAMissense 15/18 - 1
7-140453132-TTT-CCA c.1801_1803delinsTGG p.K601W Missense 15/18 - 1
7-140453132-TTT-CTCCTC c.1801_1803delinsGAGGAG p.K601delinsEE MultiAAMissense 15/18 - 1
7-140453132-TTT-GATCTC c.1801_1803delinsGAGATC p.K601delinsEI MultiAAMissense 15/18 - 1
7-140453131-ATTTCAC-A c.1798_1803del p.V600_K601del InFrameDeletion 15/18 - 2
7-140453133-T-A c.1802A>T p.K601I Missense 15/18 - 32
7-140453133-T-C c.1802A>G p.K601R Missense 15/18 - 21
7-140453133-T-G c.1802A>C p.K601T Missense 15/18 - 29
7-140453133-TT-AG c.1801_1802delinsCT p.K601L Missense 15/18 - 9
7-140453133-TT-CC c.1801_1802delinsGG p.K601G Missense 15/18 - 1
7-140453132-T-TTTTACTGTG c.1802_1803insCACAGTAAA p.V600_K601insNTV InFrameInsertion 15/18 - 1
7-140453133-T-TTTACTG c.1801_1802insCAGTAA p.T599_V600dup InFrameInsertion 15/18 - 1
7-140453134-T-A c.1801A>T p.K601* Nonsense 15/18 - 3
7-140453134-T-C c.1801A>G p.K601E Missense 15/18 - 626
7-140453134-TCA-AGG c.1799_1801delinsCCT p.V600_K601delinsA* MultiAAMissense 15/18 - 1
7-140453134-T-G c.1801A>C p.K601Q Missense 15/18 - 41
7-140453134-TTCA-T c.1799_1801del p.V600_K601delinsE MultiAAMissense 15/18 - 42
7-140453135-C-A c.1800G>T p.V600= Synonymous 15/18 - 32
7-140453135-CA-AAGGT c.1799_1800delinsACCTT p.V600delinsDL MultiAAMissense 15/18 - 1
7-140453135-CA-AAGTG c.1799_1800delinsCACTT p.V600delinsAL MultiAAMissense 15/18 - 2
7-140453135-CA-AT c.1799_1800delinsAT p.V600D Missense 15/18 - 193
7-140453135-CAC-AAA c.1798_1800delinsTTT p.V600F Missense 15/18 - 19
7-140453135-CAC-ACA c.1798_1800delinsTGT p.V600C Missense 15/18 - 1
7-140453135-CAC-ATA c.1798_1800delinsTAT p.V600Y Missense 15/18 - 1
7-140453135-CAC-ATG c.1798_1800delinsCAT p.V600H Missense 15/18 - 2
7-140453135-CAC-GAT c.1798_1800delinsATC p.V600I Missense 15/18 - 3
7-140453135-CAC-GTT c.1798_1800delinsAAC p.V600N Missense 15/18 - 2
7-140453135-CACTGT-AGGGAG c.1795_1800delinsCTCCCT p.T599_V600delinsLP MultiAAMissense 15/18 - 2
7-140453135-CA-GT c.1799_1800delinsAC p.V600D Missense 15/18 - 418
7-140453135-CA-TT c.1799_1800delinsAA p.V600E Missense 15/18 - 20
7-140453135-C-G c.1800G>C p.V600= Synonymous 15/18 - 27
7-140453135-C-T c.1800G>A p.V600= Synonymous 15/18 - 35
7-140453135-TCAC-T c.1798_1800del p.V600del InFrameDeletion 15/18 - 1
7-140453136-AC-TCCCT c.1798_1799delinsAGGGA p.V600delinsRE MultiAAMissense 15/18 - 3
7-140453134-TCA-T c.1799_1800del p.V600Efs*11 Frameshift 15/18 - 3
7-140453136-A-AAAT c.1798_1799insATT p.V600delinsDL MultiAAMissense 15/18 - 1
7-140453136-A-C c.1799T>G p.V600G Missense 15/18 - 161
7-140453136-AC-CA c.1798_1799delinsTG p.V600W Missense 15/18 - 1
7-140453136-AC-CT c.1798_1799delinsAG p.V600R Missense 15/18 - 476
7-140453136-AC-GA c.1798_1799delinsTC p.V600S Missense 15/18 - 2
7-140453136-AC-GT c.1798_1799inv p.V600T Missense 15/18 - 1
7-140453136-AC-TA c.1798_1799delinsTA p.V600* Nonsense 15/18 - 25
7-140453136-AC-TG c.1798_1799delinsCA p.V600Q Missense 15/18 - 22
7-140453136-AC-TT c.1798_1799delinsAA p.V600K Missense 15/18 - 1394
7-140453136-A-G c.1799T>C p.V600A Missense 15/18 - 102
7-140453136-A-T c.1799T>A p.V600E Missense 15/18 - 15115
7-140453136-CA-C c.1799del p.V600Gfs*50 Frameshift 15/18 - 2
7-140453137-ACTG-A c.1796_1798del p.T599_V600delinsM MultiAAMissense 15/18 - 1
7-140453137-C-A c.1798G>T p.V600L Missense 15/18 - 63
7-140453137-C-CAAT c.1797_1798insATT p.T599_V600insI InFrameInsertion 15/18 - 1
7-140453137-C-CCCT c.1797_1798insAGG p.T599_V600insR InFrameInsertion 15/18 - 1
7-140453137-C-G c.1798G>C p.V600L Missense 15/18 - 61
7-140453137-C-T c.1798G>A p.V600M Missense 15/18 - 249
7-140453137-C-TGTA c.1798delinsTACA p.V600delinsYM MultiAAMissense 15/18 - 1
7-140453136-ACTGTAGCTAGACCAAAAT-A c.1781_1798del p.D594_T599del InFrameDeletion 15/18 - 5
7-140453137-C-CTTG c.1797_1798insCAA p.T599_V600insQ InFrameInsertion 15/18 - 1
7-140453138-CTGT-C c.1795_1797del p.T599del InFrameDeletion 15/18 - 11
7-140453138-T-A c.1797A>T p.T599= Synonymous 15/18 - 9
7-140453138-T-C c.1797A>G p.T599= Synonymous 15/18 - 12
7-140453138-T-G c.1797A>C p.T599= Synonymous 15/18 - 13
7-140453138-TG-AGGGA c.1796_1797delinsTCCCT p.T599delinsIP MultiAAMissense 15/18 - 2
7-140453138-TG-CA c.1796_1797inv p.T599M Missense 15/18 - 1
7-140453138-TG-GT c.1796_1797delinsAC p.T599N Missense 15/18 - 1
7-140453138-TGT-AAA c.1795_1797delinsTTT p.T599F Missense 15/18 - 1
7-140453138-TGT-ACA c.1795_1797inv p.T599C Missense 15/18 - 1
7-140453138-TGT-ATA c.1795_1797delinsTAT p.T599Y Missense 15/18 - 1
7-140453138-TGT-ATG c.1795_1797delinsCAT p.T599H Missense 15/18 - 1
7-140453138-TGT-CCA c.1795_1797delinsTGG p.T599W Missense 15/18 - 2
7-140453138-TGT-GTC c.1795_1797delinsGAC p.T599D Missense 15/18 - 2
7-140453138-T-TATG c.1796_1797insCAT p.T599_V600insI InFrameInsertion 15/18 - 1
7-140453139-G-A c.1796C>T p.T599I Missense 15/18 - 104
7-140453139-G-C c.1796C>G p.T599R Missense 15/18 - 47
7-140453139-G-GGTA c.1795_1796insTAC p.T599delinsIP MultiAAMissense 15/18 - 1
7-140453139-G-T c.1796C>A p.T599K Missense 15/18 - 6
7-140453139-GT-AC c.1795_1796inv p.T599V Missense 15/18 - 1
7-140453139-GT-TC c.1795_1796delinsGA p.T599E Missense 15/18 - 8
7-140453139-TG-T c.1796del p.T599Kfs*2 Frameshift 15/18 - 1
7-140453136-A-ACTGTTGCAAGACCAAAGT c.1798_1799insACTTTGGTCTTGCAACAG p.D594_T599dup InFrameInsertion 15/18 - 12
7-140453136-A-ACTGTTGCCT c.1798_1799insAGGCAACAG p.T599_V600insEAT InFrameInsertion 15/18 - 1
7-140453136-A-ACTGTTGCGATCT c.1798_1799insAGATCGCAACAG p.T599_V600insEIAT InFrameInsertion 15/18 - 1
7-140453136-A-ACTGTTGTCT c.1798_1799insAGACAACAG p.T599_V600insETT InFrameInsertion 15/18 - 1
7-140453137-C-CTGTTGT c.1797_1798insACAACA p.T599_V600insTT InFrameInsertion 15/18 - 16
7-140453138-TGTA-T c.1794_1796del p.T599del InFrameDeletion 15/18 - 4
7-140453138-T-TGTA c.1794_1796dup p.T599dup InFrameInsertion 15/18 - 4
7-140453139-G-GTCC c.1795_1796insGGA p.A598_T599insR InFrameInsertion 15/18 - 1
7-140453139-G-GTGA c.1795_1796insTCA p.A598_T599insI InFrameInsertion 15/18 - 1
7-140453139-G-GTTA c.1795_1796insTAA p.A598_T599insI InFrameInsertion 15/18 - 1
7-140453139-G-GTTGCAAGACCAAAGTCACCGATCTTCT c.1795_1796insAGAAGATCGGTGACTTTGGTCTTGCAA p.A598_T599insKKIGDFGLA InFrameInsertion 15/18 - 1
7-140453139-G-GTTGCAAGACCAAAGTTACCCTTCT c.1795_1796insAGAAGGGTAACTTTGGTCTTGCAA p.A598_T599insKKGNFGLA InFrameInsertion 15/18 - 1
7-140453139-G-GTTGCAAGGA c.1795_1796insTCCTTGCAA p.A598_T599insILA InFrameInsertion 15/18 - 1
7-140453140-T-A c.1795A>T p.T599S Missense 15/18 - 3
7-140453140-T-C c.1795A>G p.T599A Missense 15/18 - 14
7-140453140-T-TTAC c.1794_1795insGTA p.A598_T599insV InFrameInsertion 15/18 - 5
7-140453136-A-ACTGTAATCT c.1798_1799insAGATTACAG p.T599_V600insEIT InFrameInsertion 15/18 - 1
7-140453136-A-ACTGTACCTGCAAGAAAGT c.1798_1799insACTTTCTTGCAGGTACAG p.T599_V600insDFLAGT InFrameInsertion 15/18 - 1
7-140453139-G-GTAA c.1795_1796insTTA p.A598_T599insI InFrameInsertion 15/18 - 1
7-140453140-T-TAAC c.1794_1795insGTT p.A598_T599insV InFrameInsertion 15/18 - 13
7-140453141-A-AAAC c.1793_1794insGTT p.A598_T599insF InFrameInsertion 15/18 - 1
7-140453141-A-C c.1794T>G p.A598= Synonymous 15/18 - 7
7-140453141-A-G c.1794T>C p.A598= Synonymous 15/18 - 10
7-140453141-AGC-CAT c.1792_1794delinsATG p.A598M Missense 15/18 - 1
7-140453141-AGC-CCA c.1792_1794delinsTGG p.A598W Missense 15/18 - 1
7-140453141-AGC-CTT c.1792_1794delinsAAG p.A598K Missense 15/18 - 1
7-140453141-AGC-TTG c.1792_1794delinsCAA p.A598Q Missense 15/18 - 1
7-140453141-A-T c.1794T>A p.A598= Synonymous 15/18 - 10
7-140453141-TAGC-T c.1792_1794del p.A598del InFrameDeletion 15/18 - 1
7-140453136-A-ACTGTAGATTTCT c.1798_1799insAGAAATCTACAG p.T599_V600insEKST InFrameInsertion 15/18 - 1
7-140453136-A-ACTGTAGTCT c.1798_1799insAGACTACAG p.T599_V600insETT InFrameInsertion 15/18 - 1
7-140453142-G-A c.1793C>T p.A598V Missense 15/18 - 38
7-140453142-G-C c.1793C>G p.A598G Missense 15/18 - 1
7-140453142-GC-AA c.1792_1793delinsTT p.A598F Missense 15/18 - 1
7-140453142-G-T c.1793C>A p.A598D Missense 15/18 - 1
7-140453143-C-A c.1792G>T p.A598S Missense 15/18 - 1
7-140453143-C-T c.1792G>A p.A598T Missense 15/18 - 14
7-140453136-A-ACTGTAGCTT c.1798_1799insAAGCTACAG p.T599_V600insEAT InFrameInsertion 15/18 - 1
7-140453137-C-CTGTAGCTTT c.1797_1798insAAAGCTACA p.T599_V600insKAT InFrameInsertion 15/18 - 2
7-140453143-C-CTGT c.1791_1792insACA p.L597_A598insT InFrameInsertion 15/18 - 1
7-140453144-T-A c.1791A>T p.L597= Synonymous 15/18 - 10
7-140453144-TA-AT c.1790_1791delinsAT p.L597H Missense 15/18 - 1
7-140453144-TAG-ACA c.1789_1791delinsTGT p.L597C Missense 15/18 - 1
7-140453144-TAG-ATA c.1789_1791delinsTAT p.L597Y Missense 15/18 - 1
7-140453144-TAG-CCA c.1789_1791delinsTGG p.L597W Missense 15/18 - 1
7-140453144-TAG-GTC c.1789_1791delinsGAC p.L597D Missense 15/18 - 2
7-140453144-TAG-GTT c.1789_1791delinsAAC p.L597N Missense 15/18 - 1
7-140453144-T-C c.1791A>G p.L597= Synonymous 15/18 - 12
7-140453144-T-G c.1791A>C p.L597= Synonymous 15/18 - 7
7-140453146-G-A c.1789C>T p.L597= Synonymous 15/18 - 14
7-140453145-A-C c.1790T>G p.L597R Missense 15/18 - 187
7-140453145-A-G c.1790T>C p.L597P Missense 15/18 - 15
7-140453145-AG-GA c.1789_1790delinsTC p.L597S Missense 15/18 - 104
7-140453145-AG-GC c.1789_1790delinsGC p.L597A Missense 15/18 - 2
7-140453145-AG-TA c.1789_1790delinsTA p.L597* Nonsense 15/18 - 4
7-140453145-AG-TT c.1789_1790delinsAA p.L597K Missense 15/18 - 3
7-140453145-A-T c.1790T>A p.L597Q Missense 15/18 - 169
7-140453146-G-C c.1789C>G p.L597V Missense 15/18 - 154
7-140453146-G-T c.1789C>A p.L597I Missense 15/18 - 5
7-140453147-A-C c.1788T>G p.G596= Synonymous 15/18 - 3
7-140453147-A-G c.1788T>C p.G596= Synonymous 15/18 - 6
7-140453147-A-T c.1788T>A p.G596= Synonymous 15/18 - 3
7-140453148-C-A c.1787G>T p.G596V Missense 15/18 - 52
7-140453148-CC-TT c.1786_1787delinsAA p.G596N Missense 15/18 - 2
7-140453148-C-G c.1787G>C p.G596A Missense 15/18 - 2
7-140453148-C-T c.1787G>A p.G596D Missense 15/18 - 57
7-140453149-C-A c.1786G>T p.G596C Missense 15/18 - 16
7-140453149-C-G c.1786G>C p.G596R Missense 15/18 - 143
7-140453149-C-T c.1786G>A p.G596S Missense 15/18 - 23
7-140453150-A-G c.1785T>C p.F595= Synonymous 15/18 - 1
7-140453151-AA-CC c.1783_1784delinsGG p.F595G Missense 15/18 - 1
7-140453151-AA-CG c.1783_1784delinsCG p.F595R Missense 15/18 - 1
7-140453151-AA-GC c.1783_1784delinsGC p.F595A Missense 15/18 - 1
7-140453151-A-C c.1784T>G p.F595C Missense 15/18 - 1
7-140453151-A-G c.1784T>C p.F595S Missense 15/18 - 26
7-140453151-A-T c.1784T>A p.F595Y Missense 15/18 - 4
7-140453150-A-C c.1785T>G p.F595L Missense 15/18 - 111
7-140453150-A-T c.1785T>A p.F595L Missense 15/18 - 97
7-140453152-A-C c.1783T>G p.F595V Missense 15/18 - 2
7-140453152-A-G c.1783T>C p.F595L Missense 15/18 - 82
7-140453149-CA-C c.1785del p.F595Lfs*3 Frameshift 15/18 - 1
7-140453149-C-CA c.1785dup p.G596Wfs*16 Frameshift 15/18 - 1
7-140453153-A-C c.1782T>G p.D594E Missense 15/18 - 43
7-140453153-A-G c.1782T>C p.D594= Synonymous 15/18 - 5
7-140453153-A-T c.1782T>A p.D594E Missense 15/18 - 59
7-140453153-ATC-CTT c.1780_1782delinsAAG p.D594K Missense 15/18 - 7
7-140453153-ATC-TTA c.1780_1782delinsTAA p.D594* Nonsense 15/18 - 5
7-140453152-AATC-A c.1780_1782del p.D594del InFrameDeletion 15/18 - 1
7-140453154-T-A c.1781A>T p.D594V Missense 15/18 - 94
7-140453154-T-C c.1781A>G p.D594G Missense 15/18 - 400
7-140453154-TC-AA c.1780_1781delinsTT p.D594F Missense 15/18 - 2
7-140453154-TC-CT c.1780_1781delinsAG p.D594S Missense 15/18 - 1
7-140453154-TC-GT c.1780_1781delinsAC p.D594T Missense 15/18 - 1
7-140453154-T-G c.1781A>C p.D594A Missense 15/18 - 86
7-140453155-C-A c.1780G>T p.D594Y Missense 15/18 - 17
7-140453155-CA-TC c.1779_1780delinsGA p.D594N Missense 15/18 - 1
7-140453155-C-G c.1780G>C p.D594H Missense 15/18 - 62
7-140453155-C-T c.1780G>A p.D594N Missense 15/18 - 299
7-140453155-TC-T c.1780del p.D594Ifs*4 Frameshift 15/18 - 1
7-140453156-A-C c.1779T>G p.G593= Synonymous 15/18 - 1
7-140453156-ACC-CAT c.1777_1779delinsATG p.G593M Missense 15/18 - 1
7-140453156-A-G c.1779T>C p.G593= Synonymous 15/18 - 1
7-140453156-A-T c.1779T>A p.G593= Synonymous 15/18 - 2
7-140453157-C-A c.1778G>T p.G593V Missense 15/18 - 1
7-140453157-CC-AA c.1777_1778delinsTT p.G593F Missense 15/18 - 1
7-140453157-C-T c.1778G>A p.G593D Missense 15/18 - 12
7-140453158-C-A c.1777G>T p.G593C Missense 15/18 - 6
7-140453158-C-G c.1777G>C p.G593R Missense 15/18 - 2
7-140453158-C-T c.1777G>A p.G593S Missense 15/18 - 11
7-140453159-T-A c.1776A>T p.I592= Synonymous 15/18 - 2
7-140453159-T-C c.1776A>G p.I592M Missense 15/18 - 31
7-140453159-T-G c.1776A>C p.I592= Synonymous 15/18 - 1
7-140453158-CTAT-C c.1774_1776del p.I592del InFrameDeletion 15/18 - 1
7-140453160-A-G c.1775T>C p.I592T Missense 15/18 - 2
7-140453160-A-T c.1775T>A p.I592K Missense 15/18 - 1
7-140453160-AT-TA c.1774_1775delinsTA p.I592* Nonsense 15/18 - 1
7-140453161-T-C c.1774A>G p.I592V Missense 15/18 - 25
7-140453162-T-C c.1773A>G p.K591= Synonymous 15/18 - 1
7-140453163-T-C c.1772A>G p.K591R Missense 15/18 - 3
7-140453164-T-C c.1771A>G p.K591E Missense 15/18 - 4
7-140453164-T-G c.1771A>C p.K591Q Missense 15/18 - 2
7-140453160-A-AT c.1774dup p.I592Nfs*3 Frameshift 15/18 - 1
7-140453160-AT-A c.1774del p.I592* Frameshift 15/18 - 2
7-140453165-T-A c.1770A>T p.V590= Synonymous 15/18 - 2
7-140453165-T-C c.1770A>G p.V590= Synonymous 15/18 - 2
7-140453165-T-G c.1770A>C p.V590= Synonymous 15/18 - 2
7-140453166-A-C c.1769T>G p.V590G Missense 15/18 - 1
7-140453166-A-G c.1769T>C p.V590A Missense 15/18 - 4
7-140453166-TA-T c.1769del p.V590Efs*3 Frameshift 15/18 - 2
7-140453167-C-A c.1768G>T p.V590L Missense 15/18 - 2
7-140453167-C-T c.1768G>A p.V590I Missense 15/18 - 9
7-140453168-T-A c.1767A>T p.T589= Synonymous 15/18 - 1
7-140453168-T-C c.1767A>G p.T589= Synonymous 15/18 - 2
7-140453169-G-A c.1766C>T p.T589I Missense 15/18 - 8
7-140453169-G-T c.1766C>A p.T589K Missense 15/18 - 1
7-140453170-T-C c.1765A>G p.T589A Missense 15/18 - 7
7-140453170-T-G c.1765A>C p.T589P Missense 15/18 - 3
7-140453171-G-A c.1764C>T p.L588= Synonymous 15/18 - 3
7-140453171-G-C c.1764C>G p.L588= Synonymous 15/18 - 3
7-140453171-G-T c.1764C>A p.L588= Synonymous 15/18 - 3
7-140453172-A-C c.1763T>G p.L588R Missense 15/18 - 7
7-140453172-A-G c.1763T>C p.L588P Missense 15/18 - 8
7-140453172-AG-TT c.1762_1763delinsAA p.L588N Missense 15/18 - 8
7-140453173-G-A c.1762C>T p.L588F Missense 15/18 - 6
7-140453173-G-T c.1762C>A p.L588I Missense 15/18 - 2
7-140453174-G-A c.1761C>T p.D587= Synonymous 15/18 - 1
7-140453174-G-C c.1761C>G p.D587E Missense 15/18 - 19
7-140453174-G-T c.1761C>A p.D587E Missense 15/18 - 20
7-140453175-T-A c.1760A>T p.D587V Missense 15/18 - 1
7-140453175-T-C c.1760A>G p.D587G Missense 15/18 - 4
7-140453175-T-G c.1760A>C p.D587A Missense 15/18 - 19
7-140453176-C-A c.1759G>T p.D587Y Missense 15/18 - 3
7-140453176-C-G c.1759G>C p.D587H Missense 15/18 - 1
7-140453176-C-T c.1759G>A p.D587N Missense 15/18 - 11
7-140453177-T-C c.1758A>G p.E586= Synonymous 15/18 - 5
7-140453176-CT-C c.1758del p.D587Tfs*4 Frameshift 15/18 - 1
7-140453178-T-A c.1757A>T p.E586V Missense 15/18 - 1
7-140453178-T-C c.1757A>G p.E586G Missense 15/18 - 2
7-140453179-C-A c.1756G>T p.E586* Nonsense 15/18 - 2
7-140453179-C-T c.1756G>A p.E586K Missense 15/18 - 87
7-140453180-A-C c.1755T>G p.H585Q Missense 15/18 - 1
7-140453180-A-G c.1755T>C p.H585= Synonymous 15/18 - 2
7-140453180-A-T c.1755T>A p.H585Q Missense 15/18 - 1
7-140453181-T-C c.1754A>G p.H585R Missense 15/18 - 3
7-140453182-G-A c.1753C>T p.H585Y Missense 15/18 - 9
7-140453182-G-T c.1753C>A p.H585N Missense 15/18 - 3
7-140453183-A-C c.1752T>G p.L584= Synonymous 15/18 - 5
7-140453183-A-G c.1752T>C p.L584= Synonymous 15/18 - 7
7-140453183-A-T c.1752T>A p.L584= Synonymous 15/18 - 5
7-140453184-A-G c.1751T>C p.L584P Missense 15/18 - 4
7-140453184-A-T c.1751T>A p.L584H Missense 15/18 - 1
7-140453185-G-A c.1750C>T p.L584F Missense 15/18 - 41
7-140453185-G-T c.1750C>A p.L584I Missense 15/18 - 6
7-140453186-A-G c.1749T>C p.F583= Synonymous 15/18 - 6
7-140453187-A-C c.1748T>G p.F583C Missense 15/18 - 1
7-140453187-A-G c.1748T>C p.F583S Missense 15/18 - 4
7-140453186-A-C c.1749T>G p.F583L Missense 15/18 - 1
7-140453186-A-T c.1749T>A p.F583L Missense 15/18 - 1
7-140453188-A-G c.1747T>C p.F583L Missense 15/18 - 3
7-140453186-AAATATATCTGAGGTGTAGTAAGTAAAGGAAAACAGTAGATCTCATTTTCCTATCAGAGC-A c.1742-52_1748del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 15/18 14/17 1
7-140453189-T-A c.1746A>T p.I582= Synonymous 15/18 - 1
7-140453189-T-C c.1746A>G p.I582M Missense 15/18 - 12
7-140453190-A-G c.1745T>C p.I582T Missense 15/18 - 2
7-140453190-A-T c.1745T>A p.I582K Missense 15/18 - 1
7-140453191-T-A c.1744A>T p.I582L Missense 15/18 - 2
7-140453191-T-G c.1744A>C p.I582L Missense 15/18 - 1
7-140453192-A-C c.1743T>G p.N581K Missense 15/18 - 8
7-140453192-A-G c.1743T>C p.N581= Synonymous 15/18 - 2
7-140453192-A-T c.1743T>A p.N581K Missense 15/18 - 11
7-140453193-AT-A c.1742del p.N581Ifs*10 Frameshift 15/18 - 1
7-140453193-T-A c.1742A>T p.N581I Missense 15/18 - 96
7-140453193-T-C c.1742A>G p.N581S Missense 15/18 - 200
7-140453193-T-G c.1742A>C p.N581T Missense 15/18 - 40
7-140453200-T-G c.1742-7A>C - IntronicSNV - 14/17 1
7-140453216-A-G c.1742-23T>C - IntronicSNV - 14/17 1
7-140453222-T-C c.1742-29A>G - IntronicSNV - 14/17 1
7-140453222-T-G c.1742-29A>C - IntronicSNV - 14/17 1
7-140453458-G-A c.1742-265C>T - IntronicSNV - 14/17 1
7-140453929-T-C c.1741+58A>G - IntronicSNV - 14/17 1
7-140453929-T-G c.1741+58A>C - IntronicSNV - 14/17 1
7-140453973-T-A c.1741+14A>T - IntronicSNV - 14/17 2
7-140453978-G-A c.1741+9C>T - IntronicSNV - 14/17 1
7-140453978-G-T c.1741+9C>A - IntronicSNV - 14/17 1
7-140453980-A-G c.1741+7T>C - IntronicSNV - 14/17 1
7-140453982-G-A c.1741+5C>T - IntronicSNV - 14/17 1
7-140453986-C-A c.1741+1G>T - IntronicSNV - 14/17 1
7-140453987-T-A c.1741A>T p.N581Y Missense 14/18 - 28
7-140453987-T-C c.1741A>G p.N581D Missense 14/18 - 40
7-140453987-T-G c.1741A>C p.N581H Missense 14/18 - 19
7-140453989-T-A c.1739A>T p.N580I Missense 14/18 - 2
7-140453989-T-C c.1739A>G p.N580S Missense 14/18 - 7
7-140453990-T-C c.1738A>G p.N580D Missense 14/18 - 14
7-140453991-A-C c.1737T>G p.S579R Missense 14/18 - 1
7-140453991-A-T c.1737T>A p.S579R Missense 14/18 - 1
7-140453993-T-G c.1735A>C p.S579R Missense 14/18 - 1
7-140453992-C-A c.1736G>T p.S579I Missense 14/18 - 2
7-140453992-C-G c.1736G>C p.S579T Missense 14/18 - 1
7-140453992-C-T c.1736G>A p.S579N Missense 14/18 - 1
7-140453992-CT-GC c.1735_1736delinsGC p.S579A Missense 14/18 - 2
7-140453992-CT-TC c.1735_1736delinsGA p.S579D Missense 14/18 - 1
7-140453993-T-A c.1735A>T p.S579C Missense 14/18 - 1
7-140453994-C-A c.1734G>T p.K578N Missense 14/18 - 3
7-140453994-C-G c.1734G>C p.K578N Missense 14/18 - 3
7-140453995-T-C c.1733A>G p.K578R Missense 14/18 - 3
7-140453996-T-C c.1732A>G p.K578E Missense 14/18 - 1
7-140453997-G-A c.1731C>T p.L577= Synonymous 14/18 - 1
7-140453997-G-C c.1731C>G p.L577= Synonymous 14/18 - 1
7-140453997-G-T c.1731C>A p.L577= Synonymous 14/18 - 2
7-140453999-G-A c.1729C>T p.L577F Missense 14/18 - 6
7-140453999-G-C c.1729C>G p.L577V Missense 14/18 - 1
7-140453999-G-T c.1729C>A p.L577I Missense 14/18 - 4
7-140454000-G-C c.1728C>G p.D576E Missense 14/18 - 1
7-140454000-G-T c.1728C>A p.D576E Missense 14/18 - 1
7-140454001-T-C c.1727A>G p.D576G Missense 14/18 - 2
7-140454002-C-A c.1726G>T p.D576Y Missense 14/18 - 4
7-140454002-C-G c.1726G>C p.D576H Missense 14/18 - 1
7-140454002-C-T c.1726G>A p.D576N Missense 14/18 - 1
7-140454003-CTCTGTGGATGATTGACTTGGCGTGTAAGTA-C c.1696_1725del p.Y566_R575del SpliceAcceptorDeletion 14/18 - 1
7-140454003-T-A c.1725A>T p.R575S Missense 14/18 - 1
7-140454003-T-C c.1725A>G p.R575= Synonymous 14/18 - 2
7-140454005-T-G c.1723A>C p.R575= Synonymous 14/18 - 1
7-140454004-C-T c.1724G>A p.R575K Missense 14/18 - 8
7-140454004-CT-GC c.1723_1724delinsGC p.R575A Missense 14/18 - 1
7-140454006-G-A c.1722C>T p.H574= Synonymous 14/18 - 1
7-140454006-G-C c.1722C>G p.H574Q Missense 14/18 - 19
7-140454006-G-T c.1722C>A p.H574Q Missense 14/18 - 16
7-140454007-T-A c.1721A>T p.H574L Missense 14/18 - 3
7-140454008-G-A c.1720C>T p.H574Y Missense 14/18 - 9
7-140454008-G-C c.1720C>G p.H574D Missense 14/18 - 2
7-140454008-G-T c.1720C>A p.H574N Missense 14/18 - 8
7-140454009-G-A c.1719C>T p.I573= Synonymous 14/18 - 2
7-140454009-G-T c.1719C>A p.I573= Synonymous 14/18 - 1
7-140454011-T-C c.1717A>G p.I573V Missense 14/18 - 1
7-140454012-G-A c.1716C>T p.I572= Synonymous 14/18 - 1
7-140454013-A-G c.1715T>C p.I572T Missense 14/18 - 1
7-140454014-T-A c.1714A>T p.I572F Missense 14/18 - 2
7-140454014-T-C c.1714A>G p.I572V Missense 14/18 - 2
7-140454015-T-A c.1713A>T p.S571= Synonymous 14/18 - 1
7-140454015-T-C c.1713A>G p.S571= Synonymous 14/18 - 2
7-140454015-T-G c.1713A>C p.S571= Synonymous 14/18 - 1
7-140454016-G-A c.1712C>T p.S571L Missense 14/18 - 1
7-140454016-G-C c.1712C>G p.S571* Nonsense 14/18 - 1
7-140454016-G-T c.1712C>A p.S571* Nonsense 14/18 - 2
7-140454017-A-G c.1711T>C p.S571P Missense 14/18 - 1
7-140454017-A-T c.1711T>A p.S571T Missense 14/18 - 1
7-140454018-C-A c.1710G>T p.K570N Missense 14/18 - 1
7-140454018-C-G c.1710G>C p.K570N Missense 14/18 - 1
7-140454018-C-T c.1710G>A p.K570= Synonymous 14/18 - 3
7-140454019-T-C c.1709A>G p.K570R Missense 14/18 - 2
7-140454020-T-C c.1708A>G p.K570E Missense 14/18 - 1
7-140454022-G-A c.1706C>T p.A569V Missense 14/18 - 2
7-140454022-G-C c.1706C>G p.A569G Missense 14/18 - 1
7-140454022-G-T c.1706C>A p.A569D Missense 14/18 - 2
7-140454023-C-A c.1705G>T p.A569S Missense 14/18 - 1
7-140454023-C-T c.1705G>A p.A569T Missense 14/18 - 4
7-140454024-G-A c.1704C>T p.H568= Synonymous 14/18 - 4
7-140454025-T-A c.1703A>T p.H568L Missense 14/18 - 1
7-140454026-G-A c.1702C>T p.H568Y Missense 14/18 - 1
7-140454026-G-C c.1702C>G p.H568D Missense 14/18 - 5
7-140454027-GTAA-G c.1699_1701del p.L567del InFrameDeletion 14/18 - 1
7-140454027-T-A c.1701A>T p.L567F Missense 14/18 - 1
7-140454028-AA-GG c.1699_1700delinsCC p.L567P Missense 14/18 - 4
7-140454028-AA-TC c.1699_1700delinsGA p.L567E Missense 14/18 - 1
7-140454027-T-C c.1701A>G p.L567= Synonymous 14/18 - 4
7-140454029-A-C c.1699T>G p.L567V Missense 14/18 - 8
7-140454029-A-G c.1699T>C p.L567= Synonymous 14/18 - 3
7-140454029-A-T c.1699T>A p.L567I Missense 14/18 - 1
7-140454030-G-A c.1698C>T p.Y566= Synonymous 14/18 - 1
7-140454031-T-C c.1697A>G p.Y566C Missense 14/18 - 5
7-140454033-A-C c.1695T>G p.D565E Missense 14/18 - 11
7-140454033-A-T c.1695T>A p.D565E Missense 14/18 - 8
7-140454123-A-T c.1695-90T>A - IntronicSNV - 13/17 2
7-140454973-G-A c.1695-940C>T - IntronicSNV - 13/17 3
7-140454973-G-C c.1695-940C>G - IntronicSNV - 13/17 3
7-140454973-G-T c.1695-940C>A - IntronicSNV - 13/17 3
7-140455167-T-C c.1695-1134A>G - IntronicSNV - 13/17 1
7-140455238-C-T c.1695-1205G>A - IntronicSNV - 13/17 1
7-140455548-T-G c.1695-1515A>C - IntronicSNV - 13/17 1
7-140456064-T-A c.1695-2031A>T - IntronicSNV - 13/17 1
7-140456513-A-G c.1695-2480T>C - IntronicSNV - 13/17 1
7-140456516-A-G c.1695-2483T>C - IntronicSNV - 13/17 1
7-140459298-C-T c.1695-5265G>A - IntronicSNV - 13/17 1
7-140459344-G-A c.1695-5311C>T - IntronicSNV - 13/17 1
7-140459684-G-A c.1695-5651C>T - IntronicSNV - 13/17 1
7-140459684-G-T c.1695-5651C>A - IntronicSNV - 13/17 1
7-140460145-A-G c.1695-6112T>C - IntronicSNV - 13/17 1
7-140460169-T-A c.1695-6136A>T - IntronicSNV - 13/17 2
7-140460169-T-C c.1695-6136A>G - IntronicSNV - 13/17 2
7-140460169-T-G c.1695-6136A>C - IntronicSNV - 13/17 2
7-140460272-G-A c.1695-6239C>T - IntronicSNV - 13/17 1
7-140460508-C-CTGAA c.1695-6479_1695-6476dup - IntronicInsertion - 13/17 1
7-140460715-A-G c.1695-6682T>C - IntronicSNV - 13/17 1
7-140460715-A-T c.1695-6682T>A - IntronicSNV - 13/17 1
7-140461485-T-G c.1695-7452A>C - IntronicSNV - 13/17 1
7-140461617-C-T c.1695-7584G>A - IntronicSNV - 13/17 1
7-140462047-A-G c.1695-8014T>C - IntronicSNV - 13/17 1
7-140462936-C-T c.1695-8903G>A - IntronicSNV - 13/17 1
7-140463087-T-TG c.1695-9055dup - IntronicInsertion - 13/17 1
7-140463089-A-C c.1695-9056T>G - IntronicSNV - 13/17 1
7-140463161-C-T c.1695-9128G>A - IntronicSNV - 13/17 1
7-140463297-T-C c.1695-9264A>G - IntronicSNV - 13/17 1
7-140463308-C-G c.1695-9275G>C - IntronicSNV - 13/17 1
7-140463705-C-T c.1695-9672G>A - IntronicSNV - 13/17 1
7-140464479-G-A c.1695-10446C>T - IntronicSNV - 13/17 1
7-140464509-G-C c.1695-10476C>G - IntronicSNV - 13/17 1
7-140464823-G-C c.1695-10790C>G - IntronicSNV - 13/17 1
7-140465014-A-C c.1695-10981T>G - IntronicSNV - 13/17 1
7-140466317-A-G c.1694+10395T>C - IntronicSNV - 13/17 1
7-140466450-T-C c.1694+10262A>G - IntronicSNV - 13/17 1
7-140466569-C-A c.1694+10143G>T - IntronicSNV - 13/17 1
7-140466929-CAAGTAGCTGGGACCACAGGCACAGACCACCACGCCTGGCTAATTTTTGTATTTTTTGGT-C c.1694+9725_1694+9783del - IntronicDeletion - 13/17 1
7-140467095-T-C c.1694+9617A>G - IntronicSNV - 13/17 1
7-140467430-A-G c.1694+9282T>C - IntronicSNV - 13/17 1
7-140467546-C-T c.1694+9166G>A - IntronicSNV - 13/17 1
7-140467694-G-A c.1694+9018C>T - IntronicSNV - 13/17 1
7-140467976-T-C c.1694+8736A>G - IntronicSNV - 13/17 1
7-140469043-A-AT c.1694+7668dup - IntronicInsertion - 13/17 1
7-140469696-T-C c.1694+7016A>G - IntronicSNV - 13/17 1
7-140469757-G-C c.1694+6955C>G - IntronicSNV - 13/17 1
7-140470593-T-C c.1694+6119A>G - IntronicSNV - 13/17 1
7-140470783-C-T c.1694+5929G>A - IntronicSNV - 13/17 1
7-140472490-G-T c.1694+4222C>A - IntronicSNV - 13/17 1
7-140473338-A-C c.1694+3374T>G - IntronicSNV - 13/17 1
7-140473338-A-G c.1694+3374T>C - IntronicSNV - 13/17 1
7-140473446-T-C c.1694+3266A>G - IntronicSNV - 13/17 1
7-140473699-T-C c.1694+3013A>G - IntronicSNV - 13/17 1
7-140473772-G-A c.1694+2940C>T - IntronicSNV - 13/17 1
7-140474059-G-A c.1694+2653C>T - IntronicSNV - 13/17 1
7-140474382-T-C c.1694+2330A>G - IntronicSNV - 13/17 1
7-140474894-C-T c.1694+1818G>A - IntronicSNV - 13/17 1
7-140475367-G-A c.1694+1345C>T - IntronicSNV - 13/17 1
7-140475384-C-CT c.1694+1327dup - IntronicInsertion - 13/17 1
7-140475466-G-A c.1694+1246C>T - IntronicSNV - 13/17 1
7-140475946-A-C c.1694+766T>G - IntronicSNV - 13/17 1
7-140476101-G-C c.1694+611C>G - IntronicSNV - 13/17 1
7-140476470-T-A c.1694+242A>T - IntronicSNV - 13/17 1
7-140476638-G-T c.1694+74C>A - IntronicSNV - 13/17 1
7-140476698-C-T c.1694+14G>A - IntronicSNV - 13/17 1
7-140476699-G-A c.1694+13C>T - IntronicSNV - 13/17 1
7-140476709-T-C c.1694+3A>G - IntronicSNV - 13/17 1
7-140476711-C-A c.1694+1G>T - IntronicSNV - 13/17 1
7-140476711-C-T c.1694+1G>A - IntronicSNV - 13/17 3
7-140476711-C-CT c.1694dup p.D565Efs*16 SpliceDonorInsertion 13/18 - 1
7-140476712-T-C c.1694A>G p.D565G Missense 13/18 - 2
7-140476712-T-G c.1694A>C p.D565A Missense 13/18 - 1
7-140476713-C-A c.1693G>T p.D565Y Missense 13/18 - 1
7-140476713-C-G c.1693G>C p.D565H Missense 13/18 - 1
7-140476713-C-T c.1693G>A p.D565N Missense 13/18 - 3
7-140476714-C-A c.1692G>T p.M564I Missense 13/18 - 1
7-140476714-C-T c.1692G>A p.M564I Missense 13/18 - 1
7-140476715-A-G c.1691T>C p.M564T Missense 13/18 - 1
7-140476716-T-A c.1690A>T p.M564L Missense 13/18 - 1
7-140476716-T-C c.1690A>G p.M564V Missense 13/18 - 5
7-140476717-G-A c.1689C>T p.G563= Synonymous 13/18 - 1
7-140476717-G-C c.1689C>G p.G563= Synonymous 13/18 - 1
7-140476717-G-T c.1689C>A p.G563= Synonymous 13/18 - 1
7-140476718-C-A c.1688G>T p.G563V Missense 13/18 - 2
7-140476718-C-T c.1688G>A p.G563D Missense 13/18 - 4
7-140476719-C-A c.1687G>T p.G563C Missense 13/18 - 5
7-140476719-C-G c.1687G>C p.G563R Missense 13/18 - 1
7-140476720-C-A c.1686G>T p.Q562H Missense 13/18 - 1
7-140476720-C-T c.1686G>A p.Q562= Synonymous 13/18 - 1
7-140476720-CTG-GTT c.1684_1686delinsAAC p.Q562N Missense 13/18 - 1
7-140476721-T-A c.1685A>T p.Q562L Missense 13/18 - 1
7-140476721-T-C c.1685A>G p.Q562R Missense 13/18 - 8
7-140476722-G-A c.1684C>T p.Q562* Nonsense 13/18 - 2
7-140476722-G-C c.1684C>G p.Q562E Missense 13/18 - 1
7-140476724-G-A c.1682C>T p.A561V Missense 13/18 - 2
7-140476724-G-T c.1682C>A p.A561E Missense 13/18 - 2
7-140476725-C-A c.1681G>T p.A561S Missense 13/18 - 1
7-140476725-C-T c.1681G>A p.A561T Missense 13/18 - 2
7-140476726-A-G c.1680T>C p.T560= Synonymous 13/18 - 1
7-140476729-C-A c.1677G>T p.Q559H Missense 13/18 - 1
7-140476730-T-C c.1676A>G p.Q559R Missense 13/18 - 2
7-140476731-G-A c.1675C>T p.Q559* Nonsense 13/18 - 2
7-140476732-GTCGTGCAATATCTAT-G c.1660_1674del p.I554_R558del InFrameDeletion 13/18 - 1
7-140476732-TC-AT c.1673_1674delinsAT p.R558H Missense 13/18 - 2
7-140476732-TCG-ACA c.1672_1674delinsTGT p.R558C Missense 13/18 - 1
7-140476733-C-A c.1673G>T p.R558L Missense 13/18 - 2
7-140476733-C-T c.1673G>A p.R558Q Missense 13/18 - 4
7-140476734-G-A c.1672C>T p.R558* Nonsense 13/18 - 3
7-140476735-T-A c.1671A>T p.A557= Synonymous 13/18 - 1
7-140476735-T-C c.1671A>G p.A557= Synonymous 13/18 - 1
7-140476736-G-A c.1670C>T p.A557V Missense 13/18 - 1
7-140476736-G-C c.1670C>G p.A557G Missense 13/18 - 1
7-140476736-TGCAATATCTATAAGTTTG-T c.1653_1670del p.K552_A557del InFrameDeletion 13/18 - 1
7-140476737-C-A c.1669G>T p.A557S Missense 13/18 - 1
7-140476737-C-G c.1669G>C p.A557P Missense 13/18 - 1
7-140476737-C-T c.1669G>A p.A557T Missense 13/18 - 1
7-140476736-GCAATAT-G c.1664_1669del p.D555_I556del InFrameDeletion 13/18 - 1
7-140476739-A-G c.1667T>C p.I556T Missense 13/18 - 6
7-140476740-T-C c.1666A>G p.I556V Missense 13/18 - 2
7-140476741-A-C c.1665T>G p.D555E Missense 13/18 - 2
7-140476741-A-T c.1665T>A p.D555E Missense 13/18 - 1
7-140476742-T-A c.1664A>T p.D555V Missense 13/18 - 1
7-140476742-T-C c.1664A>G p.D555G Missense 13/18 - 1
7-140476743-C-A c.1663G>T p.D555Y Missense 13/18 - 3
7-140476743-C-T c.1663G>A p.D555N Missense 13/18 - 2
7-140476744-TAT-GCTATAAAG c.1660_1662delinsCTTTATAGC p.I554delinsLYS MultiAAMissense 13/18 - 1
7-140476744-T-C c.1662A>G p.I554M Missense 13/18 - 1
7-140476745-A-G c.1661T>C p.I554T Missense 13/18 - 11
7-140476745-A-T c.1661T>A p.I554K Missense 13/18 - 1
7-140476748-AAGTTTGAT-A c.1651_1658del p.I551Yfs*27 Frameshift 13/18 - 1
7-140476748-A-C c.1658T>G p.L553R Missense 13/18 - 2
7-140476748-A-T c.1658T>A p.L553H Missense 13/18 - 1
7-140476749-G-A c.1657C>T p.L553F Missense 13/18 - 1
7-140476749-G-C c.1657C>G p.L553V Missense 13/18 - 1
7-140476749-G-T c.1657C>A p.L553I Missense 13/18 - 1
7-140476750-T-A c.1656A>T p.K552N Missense 13/18 - 1
7-140476751-T-A c.1655A>T p.K552I Missense 13/18 - 1
7-140476753-G-A c.1653C>T p.I551= Synonymous 13/18 - 2
7-140476753-GA-CT c.1652_1653delinsAG p.I551K Missense 13/18 - 7
7-140476753-G-T c.1653C>A p.I551= Synonymous 13/18 - 1
7-140476754-A-G c.1652T>C p.I551T Missense 13/18 - 1
7-140476754-A-T c.1652T>A p.I551N Missense 13/18 - 1
7-140476755-T-C c.1651A>G p.I551V Missense 13/18 - 2
7-140476756-C-A c.1650G>T p.M550I Missense 13/18 - 6
7-140476756-C-G c.1650G>C p.M550I Missense 13/18 - 5
7-140476756-C-T c.1650G>A p.M550I Missense 13/18 - 5
7-140476758-T-A c.1648A>T p.M550L Missense 13/18 - 1
7-140476758-T-G c.1648A>C p.M550L Missense 13/18 - 2
7-140476759-C-A c.1647G>T p.E549D Missense 13/18 - 3
7-140476759-C-G c.1647G>C p.E549D Missense 13/18 - 1
7-140476759-TC-T c.1647del p.M550* Frameshift 13/18 - 1
7-140476760-T-C c.1646A>G p.E549G Missense 13/18 - 2
7-140476761-C-A c.1645G>T p.E549* Nonsense 13/18 - 1
7-140476761-C-G c.1645G>C p.E549Q Missense 13/18 - 6
7-140476761-C-T c.1645G>A p.E549K Missense 13/18 - 2
7-140476763-A-G c.1643T>C p.F548S Missense 13/18 - 1
7-140476763-A-T c.1643T>A p.F548Y Missense 13/18 - 1
7-140476762-A-C c.1644T>G p.F548L Missense 13/18 - 1
7-140476762-A-T c.1644T>A p.F548L Missense 13/18 - 1
7-140476764-A-G c.1642T>C p.F548L Missense 13/18 - 2
7-140476765-T-A c.1641A>T p.K547N Missense 13/18 - 1
7-140476765-T-G c.1641A>C p.K547N Missense 13/18 - 1
7-140476765-TTT-ACA c.1639_1641delinsTGT p.K547C Missense 13/18 - 1
7-140476766-T-C c.1640A>G p.K547R Missense 13/18 - 1
7-140476766-T-G c.1640A>C p.K547T Missense 13/18 - 1
7-140476767-T-C c.1639A>G p.K547E Missense 13/18 - 1
7-140476768-G-A c.1638C>T p.T546= Synonymous 13/18 - 1
7-140476768-G-C c.1638C>G p.T546= Synonymous 13/18 - 1
7-140476768-GG-CA c.1637_1638delinsTG p.T546M Missense 13/18 - 2
7-140476768-G-T c.1638C>A p.T546= Synonymous 13/18 - 1
7-140476769-G-T c.1637C>A p.T546N Missense 13/18 - 1
7-140476770-T-C c.1636A>G p.T546A Missense 13/18 - 7
7-140476771-C-A c.1635G>T p.E545D Missense 13/18 - 5
7-140476771-C-G c.1635G>C p.E545D Missense 13/18 - 4
7-140476771-C-T c.1635G>A p.E545= Synonymous 13/18 - 1
7-140476772-T-A c.1634A>T p.E545V Missense 13/18 - 1
7-140476772-T-C c.1634A>G p.E545G Missense 13/18 - 10
7-140476772-TC-GT c.1633_1634delinsAC p.E545T Missense 13/18 - 1
7-140476772-T-G c.1634A>C p.E545A Missense 13/18 - 11
7-140476773-C-A c.1633G>T p.E545* Nonsense 13/18 - 4
7-140476773-C-G c.1633G>C p.E545Q Missense 13/18 - 9
7-140476773-C-T c.1633G>A p.E545K Missense 13/18 - 77
7-140476775-A-C c.1631T>G p.I544S Missense 13/18 - 8
7-140476775-A-G c.1631T>C p.I544T Missense 13/18 - 2
7-140476776-T-C c.1630A>G p.I544V Missense 13/18 - 1
7-140476777-G-A c.1629C>T p.I543= Synonymous 13/18 - 2
7-140476777-G-T c.1629C>A p.I543= Synonymous 13/18 - 2
7-140476778-A-T c.1628T>A p.I543N Missense 13/18 - 1
7-140476778-AT-GC c.1627_1628delinsGC p.I543A Missense 13/18 - 8
7-140476779-T-C c.1627A>G p.I543V Missense 13/18 - 1
7-140476780-A-G c.1626T>C p.H542= Synonymous 13/18 - 1
7-140476780-A-T c.1626T>A p.H542Q Missense 13/18 - 1
7-140476781-TG-GC c.1624_1625delinsGC p.H542A Missense 13/18 - 1
7-140476782-G-A c.1624C>T p.H542Y Missense 13/18 - 9
7-140476783-GAG-CAT c.1621_1623delinsATG p.L541M Missense 13/18 - 1
7-140476786-A-C c.1620T>G p.H540Q Missense 13/18 - 5
7-140476786-A-G c.1620T>C p.H540= Synonymous 13/18 - 1
7-140476786-A-T c.1620T>A p.H540Q Missense 13/18 - 3
7-140476787-T-C c.1619A>G p.H540R Missense 13/18 - 1
7-140476788-G-A c.1618C>T p.H540Y Missense 13/18 - 1
7-140476788-G-T c.1618C>A p.H540N Missense 13/18 - 1
7-140476789-G-A c.1617C>T p.H539= Synonymous 13/18 - 1
7-140476789-G-T c.1617C>A p.H539Q Missense 13/18 - 1
7-140476790-T-G c.1616A>C p.H539P Missense 13/18 - 3
7-140476791-G-A c.1615C>T p.H539Y Missense 13/18 - 3
7-140476791-G-T c.1615C>A p.H539N Missense 13/18 - 2
7-140476791-TG-T c.1615del p.H539Tfs*12 Frameshift 13/18 - 1
7-140476794-A-G c.1612T>C p.Y538H Missense 13/18 - 3
7-140476794-A-T c.1612T>A p.Y538N Missense 13/18 - 1
7-140476795-C-A c.1611G>T p.L537F Missense 13/18 - 1
7-140476796-A-G c.1610T>C p.L537S Missense 13/18 - 21
7-140476795-C-T c.1611G>A p.L537= Synonymous 13/18 - 1
7-140476797-A-G c.1609T>C p.L537= Synonymous 13/18 - 2
7-140476797-A-T c.1609T>A p.L537M Missense 13/18 - 1
7-140476798-G-T c.1608C>A p.S536R Missense 13/18 - 1
7-140476799-C-A c.1607G>T p.S536I Missense 13/18 - 1
7-140476799-C-G c.1607G>C p.S536T Missense 13/18 - 1
7-140476799-CT-GG c.1606_1607delinsCC p.S536P Missense 13/18 - 1
7-140476801-G-A c.1605C>T p.S535= Synonymous 13/18 - 1
7-140476802-G-A c.1604C>T p.S535F Missense 13/18 - 4
7-140476802-GA-AG c.1603_1604delinsCT p.S535L Missense 13/18 - 1
7-140476802-G-C c.1604C>G p.S535C Missense 13/18 - 1
7-140476803-A-G c.1603T>C p.S535P Missense 13/18 - 1
7-140476804-G-A c.1602C>T p.G534= Synonymous 13/18 - 4
7-140476804-G-C c.1602C>G p.G534= Synonymous 13/18 - 2
7-140476804-GC-CT c.1601_1602delinsAG p.G534E Missense 13/18 - 1
7-140476804-G-T c.1602C>A p.G534= Synonymous 13/18 - 2
7-140476805-C-A c.1601G>T p.G534V Missense 13/18 - 1
7-140476805-C-T c.1601G>A p.G534D Missense 13/18 - 2
7-140476806-C-A c.1600G>T p.G534C Missense 13/18 - 1
7-140476806-C-G c.1600G>C p.G534R Missense 13/18 - 15
7-140476807-C-A c.1599G>T p.E533D Missense 13/18 - 2
7-140476807-C-G c.1599G>C p.E533D Missense 13/18 - 1
7-140476807-C-T c.1599G>A p.E533= Synonymous 13/18 - 1
7-140476808-T-C c.1598A>G p.E533G Missense 13/18 - 2
7-140476809-C-A c.1597G>T p.E533* Nonsense 13/18 - 1
7-140476809-C-T c.1597G>A p.E533K Missense 13/18 - 5
7-140476809-TCAC-T c.1595_1597del p.C532_E533delins* MultiAAMissense 13/18 - 1
7-140476811-AC-A c.1595del p.C532Lfs*19 Frameshift 13/18 - 1
7-140476811-C-A c.1595G>T p.C532F Missense 13/18 - 3
7-140476811-CA-GC c.1594_1595delinsGC p.C532A Missense 13/18 - 1
7-140476811-C-T c.1595G>A p.C532Y Missense 13/18 - 15
7-140476812-A-G c.1594T>C p.C532R Missense 13/18 - 1
7-140476813-C-A c.1593G>T p.W531C Missense 13/18 - 19
7-140476813-C-G c.1593G>C p.W531C Missense 13/18 - 22
7-140476813-C-T c.1593G>A p.W531* Nonsense 13/18 - 2
7-140476814-C-A c.1592G>T p.W531L Missense 13/18 - 10
7-140476814-C-G c.1592G>C p.W531S Missense 13/18 - 2
7-140476814-C-T c.1592G>A p.W531* Nonsense 13/18 - 2
7-140476815-A-G c.1591T>C p.W531R Missense 13/18 - 2
7-140476815-A-T c.1591T>A p.W531R Missense 13/18 - 7
7-140476816-C-A c.1590G>T p.Q530H Missense 13/18 - 1
7-140476816-CTG-GTC c.1588_1590delinsGAC p.Q530D Missense 13/18 - 1
7-140476817-T-C c.1589A>G p.Q530R Missense 13/18 - 1
7-140476818-G-A c.1588C>T p.Q530* Nonsense 13/18 - 2
7-140476818-G-T c.1588C>A p.Q530K Missense 13/18 - 2
7-140476819-G-A c.1587C>T p.T529= Synonymous 13/18 - 2
7-140476819-GG-CA c.1586_1587delinsTG p.T529M Missense 13/18 - 5
7-140476819-GGT-CTC c.1585_1587delinsGAG p.T529E Missense 13/18 - 1
7-140476819-G-T c.1587C>A p.T529= Synonymous 13/18 - 1
7-140476820-G-A c.1586C>T p.T529I Missense 13/18 - 5
7-140476820-G-T c.1586C>A p.T529N Missense 13/18 - 11
7-140476821-T-A c.1585A>T p.T529S Missense 13/18 - 1
7-140476821-T-C c.1585A>G p.T529A Missense 13/18 - 5
7-140476822-A-G c.1584T>C p.V528= Synonymous 13/18 - 1
7-140476823-A-G c.1583T>C p.V528A Missense 13/18 - 4
7-140476824-C-A c.1582G>T p.V528F Missense 13/18 - 2
7-140476824-C-G c.1582G>C p.V528L Missense 13/18 - 1
7-140476824-C-T c.1582G>A p.V528I Missense 13/18 - 3
7-140476825-AAT-TTG c.1579_1581delinsCAA p.I527Q Missense 13/18 - 1
7-140476829-G-A c.1577C>T p.A526V Missense 13/18 - 2
7-140476830-C-A c.1576G>T p.A526S Missense 13/18 - 1
7-140476830-C-T c.1576G>A p.A526T Missense 13/18 - 1
7-140476831-C-A c.1575G>T p.L525= Synonymous 13/18 - 1
7-140476831-CAG-ACA c.1573_1575delinsTGT p.L525C Missense 13/18 - 1
7-140476831-CAG-ATA c.1573_1575delinsTAT p.L525Y Missense 13/18 - 1
7-140476831-CAG-GTC c.1573_1575delinsGAC p.L525D Missense 13/18 - 1
7-140476831-CAG-GTT c.1573_1575delinsAAC p.L525N Missense 13/18 - 1
7-140476833-G-A c.1573C>T p.L525= Synonymous 13/18 - 1
7-140476832-A-C c.1574T>G p.L525R Missense 13/18 - 13
7-140476832-A-G c.1574T>C p.L525P Missense 13/18 - 13
7-140476832-AG-TC c.1573_1574delinsGA p.L525E Missense 13/18 - 1
7-140476832-A-T c.1574T>A p.L525Q Missense 13/18 - 5
7-140476833-G-C c.1573C>G p.L525V Missense 13/18 - 1
7-140476834-T-A c.1572A>T p.Q524H Missense 13/18 - 1
7-140476834-T-G c.1572A>C p.Q524H Missense 13/18 - 1
7-140476835-T-A c.1571A>T p.Q524L Missense 13/18 - 7
7-140476835-T-C c.1571A>G p.Q524R Missense 13/18 - 1
7-140476836-G-A c.1570C>T p.Q524* Nonsense 13/18 - 1
7-140476838-G-A c.1568C>T p.P523L Missense 13/18 - 1
7-140476838-G-T c.1568C>A p.P523Q Missense 13/18 - 2
7-140476839-G-A c.1567C>T p.P523S Missense 13/18 - 3
7-140476840-C-A c.1566G>T p.K522N Missense 13/18 - 1
7-140476841-T-A c.1565A>T p.K522M Missense 13/18 - 1
7-140476841-T-C c.1565A>G p.K522R Missense 13/18 - 1
7-140476841-T-G c.1565A>C p.K522T Missense 13/18 - 1
7-140476843-TGT-ACA c.1561_1563inv p.T521C Missense 13/18 - 2
7-140476844-G-T c.1562C>A p.T521K Missense 13/18 - 2
7-140476845-T-A c.1561A>T p.T521S Missense 13/18 - 1
7-140476845-T-C c.1561A>G p.T521A Missense 13/18 - 1
7-140476846-G-A c.1560C>T p.S520= Synonymous 13/18 - 3
7-140476846-G-C c.1560C>G p.S520= Synonymous 13/18 - 2
7-140476846-G-T c.1560C>A p.S520= Synonymous 13/18 - 2
7-140476849-A-G c.1557T>C p.Y519= Synonymous 13/18 - 1
7-140476851-A-G c.1555T>C p.Y519H Missense 13/18 - 1
7-140476852-G-A c.1554C>T p.G518= Synonymous 13/18 - 1
7-140476852-G-C c.1554C>G p.G518= Synonymous 13/18 - 1
7-140476853-C-A c.1553G>T p.G518V Missense 13/18 - 1
7-140476853-CC-AG c.1552_1553delinsCT p.G518L Missense 13/18 - 1
7-140476853-C-G c.1553G>C p.G518A Missense 13/18 - 1
7-140476853-C-T c.1553G>A p.G518D Missense 13/18 - 5
7-140476854-C-A c.1552G>T p.G518C Missense 13/18 - 5
7-140476854-C-T c.1552G>A p.G518S Missense 13/18 - 2
7-140476855-C-A c.1551G>T p.M517I Missense 13/18 - 2
7-140476855-C-G c.1551G>C p.M517I Missense 13/18 - 1
7-140476855-C-T c.1551G>A p.M517I Missense 13/18 - 1
7-140476856-AT-CA c.1549_1550delinsTG p.M517W Missense 13/18 - 3
7-140476856-AT-GC c.1549_1550delinsGC p.M517A Missense 13/18 - 1
7-140476857-T-A c.1549A>T p.M517L Missense 13/18 - 1
7-140476857-T-C c.1549A>G p.M517V Missense 13/18 - 4
7-140476858-G-A c.1548C>T p.F516= Synonymous 13/18 - 1
7-140476859-AA-CC c.1546_1547delinsGG p.F516G Missense 13/18 - 1
7-140476859-AA-GC c.1546_1547delinsGC p.F516A Missense 13/18 - 2
7-140476859-AA-TC c.1546_1547delinsGA p.F516D Missense 13/18 - 1
7-140476859-A-C c.1547T>G p.F516C Missense 13/18 - 1
7-140476859-A-G c.1547T>C p.F516S Missense 13/18 - 1
7-140476858-G-C c.1548C>G p.F516L Missense 13/18 - 2
7-140476858-G-T c.1548C>A p.F516L Missense 13/18 - 2
7-140476860-A-G c.1546T>C p.F516L Missense 13/18 - 3
7-140476861-G-A c.1545C>T p.L515= Synonymous 13/18 - 2
7-140476861-G-C c.1545C>G p.L515= Synonymous 13/18 - 1
7-140476861-G-T c.1545C>A p.L515= Synonymous 13/18 - 2
7-140476862-A-G c.1544T>C p.L515P Missense 13/18 - 2
7-140476862-AG-CC c.1543_1544delinsGG p.L515G Missense 13/18 - 3
7-140476862-A-T c.1544T>A p.L515H Missense 13/18 - 1
7-140476863-G-T c.1543C>A p.L515I Missense 13/18 - 2
7-140476865-A-G c.1541T>C p.L514P Missense 13/18 - 3
7-140476865-AG-GC c.1540_1541delinsGC p.L514A Missense 13/18 - 2
7-140476865-AG-TT c.1540_1541delinsAA p.L514K Missense 13/18 - 1
7-140476866-G-A c.1540C>T p.L514= Synonymous 13/18 - 1
7-140476866-G-C c.1540C>G p.L514V Missense 13/18 - 10
7-140476866-G-T c.1540C>A p.L514I Missense 13/18 - 4
7-140476867-GAT-CTC c.1537_1539delinsGAG p.I513E Missense 13/18 - 1
7-140476868-AT-GC c.1537_1538delinsGC p.I513A Missense 13/18 - 1
7-140476871-T-C c.1535A>G p.N512S Missense 13/18 - 1
7-140476871-TT-GC c.1534_1535delinsGC p.N512A Missense 13/18 - 1
7-140476872-T-C c.1534A>G p.N512D Missense 13/18 - 2
7-140476873-C-A c.1533G>T p.V511= Synonymous 13/18 - 1
7-140476873-CAC-ACA c.1531_1533delinsTGT p.V511C Missense 13/18 - 1
7-140476874-AC-TA c.1531_1532delinsTA p.V511* Nonsense 13/18 - 1
7-140476874-A-G c.1532T>C p.V511A Missense 13/18 - 4
7-140476875-ACATGTC-A c.1526_1531del p.R509_V511delinsL MultiAAMissense 13/18 - 1
7-140476875-C-A c.1531G>T p.V511L Missense 13/18 - 2
7-140476875-C-G c.1531G>C p.V511L Missense 13/18 - 1
7-140476875-C-T c.1531G>A p.V511M Missense 13/18 - 1
7-140476876-A-T c.1530T>A p.H510Q Missense 13/18 - 1
7-140476876-CATG-C c.1528_1530del p.H510del InFrameDeletion 13/18 - 1
7-140476877-T-A c.1529A>T p.H510L Missense 13/18 - 1
7-140476877-TG-AA c.1528_1529delinsTT p.H510F Missense 13/18 - 1
7-140476877-TG-GC c.1528_1529delinsGC p.H510A Missense 13/18 - 4
7-140476878-G-T c.1528C>A p.H510N Missense 13/18 - 1
7-140476879-TC-AT c.1526_1527delinsAT p.R509H Missense 13/18 - 54
7-140476879-TCG-ACA c.1525_1527delinsTGT p.R509C Missense 13/18 - 1
7-140476880-C-A c.1526G>T p.R509L Missense 13/18 - 5
7-140476880-C-G c.1526G>C p.R509P Missense 13/18 - 2
7-140476880-CG-GC c.1525_1526delinsGC p.R509A Missense 13/18 - 3
7-140476880-C-T c.1526G>A p.R509Q Missense 13/18 - 7
7-140476881-G-A c.1525C>T p.R509* Nonsense 13/18 - 13
7-140476881-G-C c.1525C>G p.R509G Missense 13/18 - 1
7-140476882-T-G c.1524A>C p.T508= Synonymous 13/18 - 1
7-140476882-TGT-GTC c.1522_1524delinsGAC p.T508D Missense 13/18 - 1
7-140476883-G-A c.1523C>T p.T508I Missense 13/18 - 2
7-140476883-G-T c.1523C>A p.T508K Missense 13/18 - 1
7-140476884-T-C c.1522A>G p.T508A Missense 13/18 - 7
7-140476885-T-A c.1521A>T p.K507N Missense 13/18 - 1
7-140476885-T-G c.1521A>C p.K507N Missense 13/18 - 1
7-140476886-T-C c.1520A>G p.K507R Missense 13/18 - 2
7-140476886-TT-GC c.1519_1520delinsGC p.K507A Missense 13/18 - 2
7-140476887-T-C c.1519A>G p.K507E Missense 13/18 - 1
7-140476887-T-G c.1519A>C p.K507Q Missense 13/18 - 1
7-140476887-T-TAAG c.1518_1519insCTT p.R506_K507insL InFrameInsertion 13/18 - 1
7-140476888-C-G c.1518G>C p.R506S Missense 13/18 - 1
7-140476924-C-A c.1518-36G>T - IntronicSNV - 12/17 1
7-140476924-C-T c.1518-36G>A - IntronicSNV - 12/17 1
7-140476936-G-A c.1518-48C>T - IntronicSNV - 12/17 9
7-140477005-T-A c.1518-117A>T - IntronicSNV - 12/17 1
7-140477005-T-C c.1518-117A>G - IntronicSNV - 12/17 1
7-140477006-A-T c.1518-118T>A - IntronicSNV - 12/17 3
7-140477530-G-C c.1517+261C>G - IntronicSNV - 12/17 1
7-140477727-T-C c.1517+64A>G - IntronicSNV - 12/17 4
7-140477756-C-G c.1517+35G>C - IntronicSNV - 12/17 6
7-140477771-A-G c.1517+20T>C - IntronicSNV - 12/17 2
7-140477784-A-G c.1517+7T>C - IntronicSNV - 12/17 1
7-140477787-TCAC-T c.1517+1_1517+3del - SpliceDonorDeletion 12/18 12/17 1
7-140477789-A-C c.1517+2T>G - IntronicSNV - 12/17 1
7-140477789-A-T c.1517+2T>A - IntronicSNV - 12/17 1
7-140477790-C-A c.1517+1G>T - IntronicSNV - 12/17 2
7-140477790-C-T c.1517+1G>A - IntronicSNV - 12/17 1
7-140477789-AC-A c.1517+1del - IntronicDeletion 12/18 - 1
7-140477791-C-A c.1517G>T p.R506M Missense 12/18 - 2
7-140477791-C-T c.1517G>A p.R506K Missense 12/18 - 4
7-140477791-CT-AG c.1516_1517inv p.R506L Missense 12/18 - 1
7-140477791-CT-GC c.1516_1517delinsGC p.R506A Missense 12/18 - 3
7-140477791-CT-TC c.1516_1517delinsGA p.R506E Missense 12/18 - 1
7-140477791-CT-TG c.1516_1517delinsCA p.R506Q Missense 12/18 - 4
7-140477792-T-A c.1516A>T p.R506W Missense 12/18 - 3
7-140477792-T-C c.1516A>G p.R506G Missense 12/18 - 3
7-140477793-G-A c.1515C>T p.L505= Synonymous 12/18 - 1
7-140477793-GAG-CAT c.1513_1515delinsATG p.L505M Missense 12/18 - 3
7-140477794-A-G c.1514T>C p.L505P Missense 12/18 - 2
7-140477794-AG-CA c.1513_1514delinsTG p.L505C Missense 12/18 - 1
7-140477794-AG-GC c.1513_1514delinsGC p.L505A Missense 12/18 - 1
7-140477794-A-T c.1514T>A p.L505H Missense 12/18 - 40
7-140477795-G-A c.1513C>T p.L505F Missense 12/18 - 20
7-140477795-G-T c.1513C>A p.L505I Missense 12/18 - 2
7-140477796-T-A c.1512A>T p.V504= Synonymous 12/18 - 1
7-140477796-T-C c.1512A>G p.V504= Synonymous 12/18 - 1
7-140477796-T-G c.1512A>C p.V504= Synonymous 12/18 - 1
7-140477791-C-CTGAGTAACG c.1516_1517insCGTTACTCA p.L505_R506insTLL SpliceDonorInsertion 12/18 - 1
7-140477793-G-GAGTACCTGA c.1514_1515insTCAGGTACT p.L505_R506insQVL InFrameInsertion 12/18 - 1
7-140477797-A-ACATAGG c.1510_1511insCCTATG p.G503_V504insAY InFrameInsertion 12/18 - 1
7-140477798-C-A c.1510G>T p.V504L Missense 12/18 - 2
7-140477798-C-T c.1510G>A p.V504I Missense 12/18 - 3
7-140477799-T-A c.1509A>T p.G503= Synonymous 12/18 - 1
7-140477799-T-C c.1509A>G p.G503= Synonymous 12/18 - 2
7-140477799-TCC-GCT c.1507_1509delinsAGC p.G503S Missense 12/18 - 1
7-140477799-T-G c.1509A>C p.G503= Synonymous 12/18 - 1
7-140477800-C-A c.1508G>T p.G503V Missense 12/18 - 3
7-140477800-C-G c.1508G>C p.G503A Missense 12/18 - 1
7-140477800-C-T c.1508G>A p.G503E Missense 12/18 - 4
7-140477800-TCCTAC-T c.1504_1508del p.V502Sfs*30 Frameshift 12/18 - 1
7-140477801-C-A c.1507G>T p.G503* Nonsense 12/18 - 1
7-140477801-C-G c.1507G>C p.G503R Missense 12/18 - 5
7-140477801-C-T c.1507G>A p.G503R Missense 12/18 - 5
7-140477802-T-C c.1506A>G p.V502= Synonymous 12/18 - 1
7-140477803-A-G c.1505T>C p.V502A Missense 12/18 - 1
7-140477803-A-T c.1505T>A p.V502E Missense 12/18 - 1
7-140477804-C-A c.1504G>T p.V502L Missense 12/18 - 1
7-140477805-T-A c.1503A>T p.E501D Missense 12/18 - 1
7-140477806-T-A c.1502A>T p.E501V Missense 12/18 - 9
7-140477806-T-C c.1502A>G p.E501G Missense 12/18 - 26
7-140477806-T-G c.1502A>C p.E501A Missense 12/18 - 9
7-140477807-C-A c.1501G>T p.E501* Nonsense 12/18 - 3
7-140477807-C-G c.1501G>C p.E501Q Missense 12/18 - 5
7-140477807-C-T c.1501G>A p.E501K Missense 12/18 - 46
7-140477811-T-A c.1497A>T p.K499N Missense 12/18 - 17
7-140477811-T-G c.1497A>C p.K499N Missense 12/18 - 25
7-140477812-T-G c.1496A>C p.K499T Missense 12/18 - 1
7-140477813-T-C c.1495A>G p.K499E Missense 12/18 - 31
7-140477813-T-G c.1495A>C p.K499Q Missense 12/18 - 1
7-140477814-G-A c.1494C>T p.F498= Synonymous 12/18 - 1
7-140477814-GAA-CAT c.1492_1494delinsATG p.F498M Missense 12/18 - 1
7-140477814-GAA-CTC c.1492_1494delinsGAG p.F498E Missense 12/18 - 1
7-140477814-GAA-CTT c.1492_1494delinsAAG p.F498K Missense 12/18 - 1
7-140477814-GAA-TTG c.1492_1494delinsCAA p.F498Q Missense 12/18 - 1
7-140477814-GA-CC c.1493_1494delinsGG p.F498W Missense 12/18 - 1
7-140477815-AA-CC c.1492_1493delinsGG p.F498G Missense 12/18 - 1
7-140477815-AA-CG c.1492_1493delinsCG p.F498R Missense 12/18 - 1
7-140477815-AA-GC c.1492_1493delinsGC p.F498A Missense 12/18 - 2
7-140477815-AA-GG c.1492_1493delinsCC p.F498P Missense 12/18 - 1
7-140477815-AA-GT c.1492_1493delinsAC p.F498T Missense 12/18 - 1
7-140477815-AA-TC c.1492_1493delinsGA p.F498D Missense 12/18 - 1
7-140477815-AA-TG c.1492_1493delinsCA p.F498H Missense 12/18 - 1
7-140477815-AA-TT c.1492_1493inv p.F498N Missense 12/18 - 1
7-140477815-A-C c.1493T>G p.F498C Missense 12/18 - 1
7-140477815-A-G c.1493T>C p.F498S Missense 12/18 - 2
7-140477815-A-T c.1493T>A p.F498Y Missense 12/18 - 3
7-140477814-G-C c.1494C>G p.F498L Missense 12/18 - 1
7-140477814-G-T c.1494C>A p.F498L Missense 12/18 - 1
7-140477816-A-C c.1492T>G p.F498V Missense 12/18 - 1
7-140477816-A-G c.1492T>C p.F498L Missense 12/18 - 2
7-140477816-A-T c.1492T>A p.F498I Missense 12/18 - 3
7-140477817-GGC-CAT c.1489_1491delinsATG p.A497M Missense 12/18 - 1
7-140477817-GGC-CCA c.1489_1491delinsTGG p.A497W Missense 12/18 - 1
7-140477817-GGC-CTT c.1489_1491delinsAAG p.A497K Missense 12/18 - 1
7-140477817-GG-CT c.1490_1491delinsAG p.A497E Missense 12/18 - 1
7-140477817-GGC-TTG c.1489_1491delinsCAA p.A497Q Missense 12/18 - 1
7-140477818-G-A c.1490C>T p.A497V Missense 12/18 - 6
7-140477818-G-C c.1490C>G p.A497G Missense 12/18 - 2
7-140477818-GC-AA c.1489_1490delinsTT p.A497F Missense 12/18 - 1
7-140477818-GC-AG c.1489_1490delinsCT p.A497L Missense 12/18 - 1
7-140477818-GC-AT c.1489_1490delinsAT p.A497I Missense 12/18 - 1
7-140477818-GC-CA c.1489_1490delinsTG p.A497C Missense 12/18 - 1
7-140477818-GC-CG c.1489_1490delinsCG p.A497R Missense 12/18 - 1
7-140477818-GC-TA c.1489_1490delinsTA p.A497Y Missense 12/18 - 1
7-140477818-GC-TG c.1489_1490delinsCA p.A497H Missense 12/18 - 1
7-140477818-GC-TT c.1489_1490delinsAA p.A497N Missense 12/18 - 1
7-140477818-G-T c.1490C>A p.A497D Missense 12/18 - 2
7-140477819-C-A c.1489G>T p.A497S Missense 12/18 - 2
7-140477819-C-G c.1489G>C p.A497P Missense 12/18 - 1
7-140477819-C-T c.1489G>A p.A497T Missense 12/18 - 2
7-140477820-T-C c.1488A>G p.Q496= Synonymous 12/18 - 1
7-140477821-T-C c.1487A>G p.Q496R Missense 12/18 - 1
7-140477821-TG-GA c.1486_1487delinsTC p.Q496S Missense 12/18 - 1
7-140477822-G-A c.1486C>T p.Q496* Nonsense 12/18 - 2
7-140477824-A-C c.1484T>G p.L495* Nonsense 12/18 - 1
7-140477824-A-T c.1484T>A p.L495* Nonsense 12/18 - 1
7-140477825-A-C c.1483T>G p.L495V Missense 12/18 - 1
7-140477825-ACTGCTGAGGTGTAGGTGCTGTCA-GGT c.1460_1483delinsACC p.V487_Q494delinsD MultiAAMissense 12/18 - 1
7-140477826-ACTGCTGAGGTGTAGG-A c.1468_1482del p.P490_Q494del InFrameDeletion 12/18 - 2
7-140477826-C-A c.1482G>T p.Q494H Missense 12/18 - 2
7-140477826-C-T c.1482G>A p.Q494= Synonymous 12/18 - 1
7-140477827-CTGCTGAGGTGTAGGT-C c.1467_1481del p.P490_Q494del InFrameDeletion 12/18 - 3
7-140477828-G-A c.1480C>T p.Q494* Nonsense 12/18 - 2
7-140477828-G-T c.1480C>A p.Q494K Missense 12/18 - 2
7-140477825-ACTG-A c.1480_1482del p.Q494del InFrameDeletion 12/18 - 5
7-140477829-C-A c.1479G>T p.Q493H Missense 12/18 - 2
7-140477829-C-G c.1479G>C p.Q493H Missense 12/18 - 1
7-140477829-C-T c.1479G>A p.Q493= Synonymous 12/18 - 1
7-140477829-CTG-ACA c.1477_1479delinsTGT p.Q493C Missense 12/18 - 1
7-140477829-GCTGAGGTGTAGGTGC-G c.1465_1479del p.A489_Q493del InFrameDeletion 12/18 - 1
7-140477830-T-C c.1478A>G p.Q493R Missense 12/18 - 1
7-140477830-TGAGGTGTAGGTGCTGTC-CGT c.1461_1478delinsACG p.T488_Q493delinsR MultiAAMissense 12/18 - 1
7-140477831-G-A c.1477C>T p.Q493* Nonsense 12/18 - 1
7-140477831-G-T c.1477C>A p.Q493K Missense 12/18 - 1
7-140477831-TGAGGTGTAGGTGCTG-T c.1463_1477del p.T488_Q493delinsK MultiAAMissense 12/18 - 1
7-140477830-TGAG-T c.1475_1477del p.P492del InFrameDeletion 12/18 - 5
7-140477832-A-G c.1476T>C p.P492= Synonymous 12/18 - 1
7-140477832-GAGGTGTAGGTGCTGT-G c.1462_1476del p.T488_P492del InFrameDeletion 12/18 - 2
7-140477833-G-A c.1475C>T p.P492L Missense 12/18 - 1
7-140477833-G-C c.1475C>G p.P492R Missense 12/18 - 1
7-140477833-G-T c.1475C>A p.P492H Missense 12/18 - 2
7-140477834-G-A c.1474C>T p.P492S Missense 12/18 - 2
7-140477834-GGTGTAGGTGCTGTCA-G c.1460_1474del p.V487_P492delinsA MultiAAMissense 12/18 - 3
7-140477834-G-T c.1474C>A p.P492T Missense 12/18 - 1
7-140477835-GTGT-G c.1471_1473del p.T491del InFrameDeletion 12/18 - 1
7-140477836-G-A c.1472C>T p.T491I Missense 12/18 - 5
7-140477836-TGTAGGTGCTGTCACA-T c.1458_1472del p.N486_T491delinsK MultiAAMissense 12/18 - 4
7-140477837-T-A c.1471A>T p.T491S Missense 12/18 - 1
7-140477836-GTAGGTGCTGTCACAT-G c.1457_1471del p.N486_P490del InFrameDeletion 12/18 - 37
7-140477838-A-G c.1470T>C p.P490= Synonymous 12/18 - 2
7-140477838-AGG-TTA c.1468_1470delinsTAA p.P490* Nonsense 12/18 - 1
7-140477838-TAGG-T c.1468_1470del p.P490del InFrameDeletion 12/18 - 26
7-140477839-AGG-A c.1468_1469del p.P490Yfs*11 Frameshift 12/18 - 1
7-140477839-AGGTGCTGTCACATTC-A c.1455_1469del p.L485_P490delinsF MultiAAMissense 12/18 - 7
7-140477839-GG-TA c.1468_1469delinsTA p.P490Y Missense 12/18 - 1
7-140477839-G-T c.1469C>A p.P490H Missense 12/18 - 1
7-140477840-G-A c.1468C>T p.P490S Missense 12/18 - 4
7-140477840-G-C c.1468C>G p.P490A Missense 12/18 - 1
7-140477841-T-C c.1467A>G p.A489= Synonymous 12/18 - 1
7-140477842-G-A c.1466C>T p.A489V Missense 12/18 - 1
7-140477842-G-T c.1466C>A p.A489E Missense 12/18 - 2
7-140477842-TGCTGTCACA-T c.1458_1466del p.N486_A489delinsK MultiAAMissense 12/18 - 3
7-140477842-TGCTGTCACATTCAAC-T c.1452_1466del p.M484_A489delinsI MultiAAMissense 12/18 - 1
7-140477842-TGCTGTCACATTCA-T c.1454_1466del p.L485Yfs*14 Frameshift 12/18 - 1
7-140477843-C-A c.1465G>T p.A489S Missense 12/18 - 1
7-140477843-C-T c.1465G>A p.A489T Missense 12/18 - 3
7-140477844-T-A c.1464A>T p.T488= Synonymous 12/18 - 1
7-140477844-T-C c.1464A>G p.T488= Synonymous 12/18 - 1
7-140477845-G-A c.1463C>T p.T488I Missense 12/18 - 3
7-140477845-GT-TA c.1462_1463delinsTA p.T488* Nonsense 12/18 - 1
7-140477846-T-C c.1462A>G p.T488A Missense 12/18 - 3
7-140477847-C-A c.1461G>T p.V487= Synonymous 12/18 - 5
7-140477847-CAC-AAA c.1459_1461delinsTTT p.V487F Missense 12/18 - 1
7-140477847-CAC-ACA c.1459_1461delinsTGT p.V487C Missense 12/18 - 1
7-140477847-CAC-ATA c.1459_1461delinsTAT p.V487Y Missense 12/18 - 2
7-140477847-CAC-ATG c.1459_1461delinsCAT p.V487H Missense 12/18 - 1
7-140477847-CAC-GAT c.1459_1461delinsATC p.V487I Missense 12/18 - 2
7-140477847-CAC-GTT c.1459_1461delinsAAC p.V487N Missense 12/18 - 1
7-140477847-CA-GT c.1460_1461delinsAC p.V487D Missense 12/18 - 1
7-140477847-C-G c.1461G>C p.V487= Synonymous 12/18 - 4
7-140477847-C-T c.1461G>A p.V487= Synonymous 12/18 - 6
7-140477847-TCAC-T c.1459_1461del p.V487del InFrameDeletion 12/18 - 1
7-140477848-A-C c.1460T>G p.V487G Missense 12/18 - 15
7-140477848-AC-CA c.1459_1460delinsTG p.V487W Missense 12/18 - 1
7-140477848-AC-CT c.1459_1460delinsAG p.V487R Missense 12/18 - 1
7-140477848-AC-GA c.1459_1460delinsTC p.V487S Missense 12/18 - 2
7-140477848-AC-GG c.1459_1460delinsCC p.V487P Missense 12/18 - 1
7-140477848-AC-GT c.1459_1460inv p.V487T Missense 12/18 - 1
7-140477848-AC-TG c.1459_1460delinsCA p.V487Q Missense 12/18 - 1
7-140477848-AC-TT c.1459_1460delinsAA p.V487K Missense 12/18 - 1
7-140477848-A-G c.1460T>C p.V487A Missense 12/18 - 3
7-140477848-A-T c.1460T>A p.V487E Missense 12/18 - 3
7-140477845-GTCACAT-G c.1457_1462del p.N486_V487del InFrameDeletion 12/18 - 1
7-140477849-C-A c.1459G>T p.V487L Missense 12/18 - 3
7-140477849-C-G c.1459G>C p.V487L Missense 12/18 - 2
7-140477849-C-T c.1459G>A p.V487M Missense 12/18 - 2
7-140477851-T-A c.1457A>T p.N486I Missense 12/18 - 1
7-140477851-TT-GG c.1456_1457delinsCC p.N486P Missense 12/18 - 1
7-140477852-T-A c.1456A>T p.N486Y Missense 12/18 - 1
7-140477852-T-C c.1456A>G p.N486D Missense 12/18 - 1
7-140477853-C-A c.1455G>T p.L485F Missense 12/18 - 47
7-140477853-CAA-ATG c.1453_1455delinsCAT p.L485H Missense 12/18 - 1
7-140477853-CA-AC c.1454_1455delinsGT p.L485C Missense 12/18 - 1
7-140477853-CAA-GAT c.1453_1455delinsATC p.L485I Missense 12/18 - 1
7-140477853-CAA-GTC c.1453_1455delinsGAC p.L485D Missense 12/18 - 1
7-140477853-CAA-GTT c.1453_1455delinsAAC p.L485N Missense 12/18 - 1
7-140477853-CA-AT c.1454_1455delinsAT p.L485Y Missense 12/18 - 3
7-140477853-C-G c.1455G>C p.L485F Missense 12/18 - 57
7-140477854-AA-CC c.1453_1454delinsGG p.L485G Missense 12/18 - 1
7-140477854-AA-CT c.1453_1454delinsAG p.L485R Missense 12/18 - 1
7-140477854-AA-GC c.1453_1454delinsGC p.L485A Missense 12/18 - 1
7-140477854-AA-GG c.1453_1454delinsCC p.L485P Missense 12/18 - 1
7-140477854-AA-GT c.1453_1454delinsAC p.L485T Missense 12/18 - 1
7-140477854-AA-TC c.1453_1454delinsGA p.L485E Missense 12/18 - 1
7-140477854-AA-TG c.1453_1454delinsCA p.L485Q Missense 12/18 - 1
7-140477854-AA-TT c.1453_1454inv p.L485K Missense 12/18 - 1
7-140477854-A-C c.1454T>G p.L485W Missense 12/18 - 25
7-140477854-A-G c.1454T>C p.L485S Missense 12/18 - 25
7-140477854-A-T c.1454T>A p.L485* Nonsense 12/18 - 4
7-140477853-C-T c.1455G>A p.L485= Synonymous 12/18 - 1
7-140477855-A-C c.1453T>G p.L485V Missense 12/18 - 2
7-140477855-A-G c.1453T>C p.L485= Synonymous 12/18 - 1
7-140477855-A-T c.1453T>A p.L485M Missense 12/18 - 2
7-140477856-C-A c.1452G>T p.M484I Missense 12/18 - 3
7-140477856-C-G c.1452G>C p.M484I Missense 12/18 - 1
7-140477856-C-T c.1452G>A p.M484I Missense 12/18 - 1
7-140477859-T-A c.1449A>T p.K483N Missense 12/18 - 6
7-140477859-T-G c.1449A>C p.K483N Missense 12/18 - 7
7-140477859-TT-CA c.1448_1449delinsTG p.K483M Missense 12/18 - 18
7-140477859-TTT-CCA c.1447_1449delinsTGG p.K483W Missense 12/18 - 1
7-140477859-TTT-GTC c.1447_1449delinsGAC p.K483D Missense 12/18 - 1
7-140477860-T-C c.1448A>G p.K483R Missense 12/18 - 1
7-140477860-T-G c.1448A>C p.K483T Missense 12/18 - 2
7-140477861-T-C c.1447A>G p.K483E Missense 12/18 - 48
7-140477861-T-G c.1447A>C p.K483Q Missense 12/18 - 9
7-140477861-T-TCCAAAGAAA c.1446_1447insTTTCTTTGG p.V482_K483insFLW InFrameInsertion 12/18 - 1
7-140477862-C-A c.1446G>T p.V482= Synonymous 12/18 - 3
7-140477862-CAC-AAA c.1444_1446delinsTTT p.V482F Missense 12/18 - 2
7-140477862-CAC-GAT c.1444_1446delinsATC p.V482I Missense 12/18 - 1
7-140477862-C-G c.1446G>C p.V482= Synonymous 12/18 - 2
7-140477862-C-T c.1446G>A p.V482= Synonymous 12/18 - 3
7-140477863-A-C c.1445T>G p.V482G Missense 12/18 - 1
7-140477863-A-G c.1445T>C p.V482A Missense 12/18 - 1
7-140477864-C-A c.1444G>T p.V482L Missense 12/18 - 1
7-140477864-C-T c.1444G>A p.V482M Missense 12/18 - 2
7-140477865-T-C c.1443A>G p.A481= Synonymous 12/18 - 1
7-140477865-TGC-AAA c.1441_1443delinsTTT p.A481F Missense 12/18 - 8
7-140477866-G-A c.1442C>T p.A481V Missense 12/18 - 2
7-140477866-G-C c.1442C>G p.A481G Missense 12/18 - 1
7-140477866-G-T c.1442C>A p.A481E Missense 12/18 - 5
7-140477867-C-A c.1441G>T p.A481S Missense 12/18 - 1
7-140477867-C-T c.1441G>A p.A481T Missense 12/18 - 1
7-140477868-C-A c.1440G>T p.V480= Synonymous 12/18 - 1
7-140477870-C-A c.1438G>T p.V480L Missense 12/18 - 3
7-140477870-C-G c.1438G>C p.V480L Missense 12/18 - 1
7-140477870-C-T c.1438G>A p.V480M Missense 12/18 - 3
7-140477872-T-A c.1436A>T p.D479V Missense 12/18 - 1
7-140477873-C-A c.1435G>T p.D479Y Missense 12/18 - 2
7-140477873-C-T c.1435G>A p.D479N Missense 12/18 - 4
7-140477873-C-CAT c.1434_1435insAT p.D479Mfs*5 SpliceAcceptorInsertion 12/18 - 1
7-140477874-A-T c.1434T>A p.G478= Synonymous 12/18 - 1
7-140477875-C-A c.1433G>T p.G478V Missense 12/18 - 1
7-140477875-C-T c.1433G>A p.G478D Missense 12/18 - 4
7-140477894-T-C c.1433-19A>G - IntronicSNV - 11/17 1
7-140477939-C-G c.1433-64G>C - IntronicSNV - 11/17 1
7-140477939-C-T c.1433-64G>A - IntronicSNV - 11/17 1
7-140478254-G-T c.1433-379C>A - IntronicSNV - 11/17 4
7-140479114-G-C c.1433-1239C>G - IntronicSNV - 11/17 2
7-140479635-G-A c.1432+1741C>T - IntronicSNV - 11/17 1
7-140479919-A-C c.1432+1457T>G - IntronicSNV - 11/17 2
7-140480063-A-C c.1432+1313T>G - IntronicSNV - 11/17 2
7-140480063-A-G c.1432+1313T>C - IntronicSNV - 11/17 2
7-140480063-A-T c.1432+1313T>A - IntronicSNV - 11/17 2
7-140480111-G-A c.1432+1265C>T - IntronicSNV - 11/17 1
7-140480111-G-T c.1432+1265C>A - IntronicSNV - 11/17 1
7-140480520-C-T c.1432+856G>A - IntronicSNV - 11/17 1
7-140481225-T-C c.1432+151A>G - IntronicSNV - 11/17 1
7-140481309-TACAAAA-T c.1432+62_1432+67del - IntronicDeletion - 11/17 1
7-140481361-CACATTACATACTTA-C c.1432+2_1432+15del - IntronicDeletion - 11/17 1
7-140481373-T-C c.1432+3A>G - IntronicSNV - 11/17 1
7-140481375-ACC-A c.1432_1432+1del - SpliceDonorDeletion 11/18 11/17 1
7-140481375-C-A c.1432+1G>T - IntronicSNV - 11/17 1
7-140481375-C-T c.1432+1G>A - IntronicSNV - 11/17 1
7-140481376-C-A c.1432G>T p.G478C Missense 11/18 - 3
7-140481376-C-T c.1432G>A p.G478S Missense 11/18 - 1
7-140481377-A-T c.1431T>A p.H477Q Missense 11/18 - 1
7-140481378-TG-GC c.1429_1430delinsGC p.H477A Missense 11/18 - 1
7-140481379-G-A c.1429C>T p.H477Y Missense 11/18 - 1
7-140481380-C-A c.1428G>T p.W476C Missense 11/18 - 1
7-140481380-C-T c.1428G>A p.W476* Nonsense 11/18 - 4
7-140481381-C-A c.1427G>T p.W476L Missense 11/18 - 1
7-140481381-C-T c.1427G>A p.W476* Nonsense 11/18 - 5
7-140481382-A-G c.1426T>C p.W476R Missense 11/18 - 1
7-140481382-A-T c.1426T>A p.W476R Missense 11/18 - 1
7-140481384-T-A c.1424A>T p.K475M Missense 11/18 - 4
7-140481384-T-C c.1424A>G p.K475R Missense 11/18 - 4
7-140481387-C-A c.1421G>T p.G474V Missense 11/18 - 2
7-140481387-C-T c.1421G>A p.G474E Missense 11/18 - 1
7-140481388-C-A c.1420G>T p.G474* Nonsense 11/18 - 1
7-140481388-C-G c.1420G>C p.G474R Missense 11/18 - 5
7-140481388-C-T c.1420G>A p.G474R Missense 11/18 - 5
7-140481389-C-A c.1419G>T p.K473N Missense 11/18 - 2
7-140481389-CCTT-C c.1417_1419del p.K473del InFrameDeletion 11/18 - 1
7-140481389-C-G c.1419G>C p.K473N Missense 11/18 - 1
7-140481390-T-A c.1418A>T p.K473M Missense 11/18 - 1
7-140481390-T-C c.1418A>G p.K473R Missense 11/18 - 4
7-140481391-T-C c.1417A>G p.K473E Missense 11/18 - 1
7-140481391-T-G c.1417A>C p.K473Q Missense 11/18 - 1
7-140481392-G-A c.1416C>T p.Y472= Synonymous 11/18 - 1
7-140481393-T-A c.1415A>T p.Y472F Missense 11/18 - 3
7-140481393-T-C c.1415A>G p.Y472C Missense 11/18 - 43
7-140481393-T-G c.1415A>C p.Y472S Missense 11/18 - 9
7-140481394-A-G c.1414T>C p.Y472H Missense 11/18 - 2
7-140481395-G-A c.1413C>T p.V471= Synonymous 11/18 - 2
7-140481395-GA-CT c.1412_1413delinsAG p.V471E Missense 11/18 - 1
7-140481395-G-C c.1413C>G p.V471= Synonymous 11/18 - 1
7-140481395-G-T c.1413C>A p.V471= Synonymous 11/18 - 1
7-140481396-A-G c.1412T>C p.V471A Missense 11/18 - 5
7-140481397-C-A c.1411G>T p.V471F Missense 11/18 - 46
7-140481397-C-T c.1411G>A p.V471I Missense 11/18 - 20
7-140481396-ACTGTTC-A c.1406_1411del p.G469_T470del InFrameDeletion 11/18 - 1
7-140481398-T-A c.1410A>T p.T470= Synonymous 11/18 - 3
7-140481398-T-C c.1410A>G p.T470= Synonymous 11/18 - 2
7-140481398-T-G c.1410A>C p.T470= Synonymous 11/18 - 1
7-140481398-TG-AT c.1409_1410delinsAT p.T470N Missense 11/18 - 1
7-140481397-CTGT-C c.1408_1410del p.T470del InFrameDeletion 11/18 - 3
7-140481399-G-A c.1409C>T p.T470I Missense 11/18 - 3
7-140481399-G-C c.1409C>G p.T470R Missense 11/18 - 6
7-140481399-G-T c.1409C>A p.T470K Missense 11/18 - 3
7-140481400-T-C c.1408A>G p.T470A Missense 11/18 - 2
7-140481400-T-G c.1408A>C p.T470P Missense 11/18 - 4
7-140481401-T-A c.1407A>T p.G469= Synonymous 11/18 - 6
7-140481401-T-C c.1407A>G p.G469= Synonymous 11/18 - 4
7-140481401-TCC-ACT c.1405_1407delinsAGT p.G469S Missense 11/18 - 6
7-140481401-TCC-GCT c.1405_1407delinsAGC p.G469S Missense 11/18 - 63
7-140481401-TCC-GCTGCT c.1405_1407delinsAGCAGC p.G469delinsSS MultiAAMissense 11/18 - 1
7-140481401-TC-GT c.1406_1407delinsAC p.G469D Missense 11/18 - 1
7-140481401-T-G c.1407A>C p.G469= Synonymous 11/18 - 4
7-140481401-TTCC-T c.1405_1407del p.G469del InFrameDeletion 11/18 - 6
7-140481402-C-A c.1406G>T p.G469V Missense 11/18 - 222
7-140481402-CC-AA c.1405_1406delinsTT p.G469L Missense 11/18 - 2
7-140481402-CC-AG c.1405_1406delinsCT p.G469L Missense 11/18 - 23
7-140481402-CC-AT c.1405_1406delinsAT p.G469I Missense 11/18 - 1
7-140481402-CC-GA c.1405_1406delinsTC p.G469S Missense 11/18 - 2
7-140481402-CC-GT c.1405_1406delinsAC p.G469T Missense 11/18 - 2
7-140481402-CC-TG c.1405_1406delinsCA p.G469Q Missense 11/18 - 1
7-140481402-CC-TT c.1405_1406delinsAA p.G469K Missense 11/18 - 3
7-140481402-C-G c.1406G>C p.G469A Missense 11/18 - 492
7-140481402-C-T c.1406G>A p.G469E Missense 11/18 - 206
7-140481403-C-A c.1405G>T p.G469* Nonsense 11/18 - 19
7-140481403-C-G c.1405G>C p.G469R Missense 11/18 - 155
7-140481403-C-T c.1405G>A p.G469R Missense 11/18 - 170
7-140481404-AAA-CAT c.1402_1404delinsATG p.F468M Missense 11/18 - 1
7-140481404-AAA-CTC c.1402_1404delinsGAG p.F468E Missense 11/18 - 1
7-140481404-AAA-CTT c.1402_1404delinsAAG p.F468K Missense 11/18 - 1
7-140481404-AAA-TTG c.1402_1404delinsCAA p.F468Q Missense 11/18 - 1
7-140481404-AA-CC c.1403_1404delinsGG p.F468W Missense 11/18 - 1
7-140481404-A-G c.1404T>C p.F468= Synonymous 11/18 - 1
7-140481404-CAAA-C c.1402_1404del p.F468del InFrameDeletion 11/18 - 1
7-140481400-TTCCAAATGA-T c.1399_1407del p.S467_G469del InFrameDeletion 11/18 - 1
7-140481405-AA-CC c.1402_1403delinsGG p.F468G Missense 11/18 - 1
7-140481405-AA-CG c.1402_1403delinsCG p.F468R Missense 11/18 - 1
7-140481405-AA-GC c.1402_1403delinsGC p.F468A Missense 11/18 - 1
7-140481405-AA-GG c.1402_1403delinsCC p.F468P Missense 11/18 - 1
7-140481405-AA-GT c.1402_1403delinsAC p.F468T Missense 11/18 - 1
7-140481405-AA-TC c.1402_1403delinsGA p.F468D Missense 11/18 - 1
7-140481405-AA-TG c.1402_1403delinsCA p.F468H Missense 11/18 - 1
7-140481405-AA-TT c.1402_1403inv p.F468N Missense 11/18 - 1
7-140481405-A-C c.1403T>G p.F468C Missense 11/18 - 34
7-140481405-A-G c.1403T>C p.F468S Missense 11/18 - 42
7-140481405-A-T c.1403T>A p.F468Y Missense 11/18 - 1
7-140481404-A-C c.1404T>G p.F468L Missense 11/18 - 4
7-140481404-A-T c.1404T>A p.F468L Missense 11/18 - 5
7-140481406-A-C c.1402T>G p.F468V Missense 11/18 - 1
7-140481406-A-G c.1402T>C p.F468L Missense 11/18 - 6
7-140481406-A-T c.1402T>A p.F468I Missense 11/18 - 1
7-140481407-T-A c.1401A>T p.S467= Synonymous 11/18 - 1
7-140481407-T-C c.1401A>G p.S467= Synonymous 11/18 - 1
7-140481407-T-G c.1401A>C p.S467= Synonymous 11/18 - 1
7-140481407-TG-AA c.1400_1401delinsTT p.S467F Missense 11/18 - 2
7-140481408-G-A c.1400C>T p.S467L Missense 11/18 - 71
7-140481408-TG-T c.1400del p.S467Yfs*16 Frameshift 11/18 - 1
7-140481409-A-C c.1399T>G p.S467A Missense 11/18 - 28
7-140481409-A-G c.1399T>C p.S467P Missense 11/18 - 3
7-140481409-A-T c.1399T>A p.S467T Missense 11/18 - 2
7-140481410-T-A c.1398A>T p.G466= Synonymous 11/18 - 1
7-140481410-T-C c.1398A>G p.G466= Synonymous 11/18 - 5
7-140481410-TC-GT c.1397_1398delinsAC p.G466D Missense 11/18 - 1
7-140481410-T-G c.1398A>C p.G466= Synonymous 11/18 - 1
7-140481411-C-A c.1397G>T p.G466V Missense 11/18 - 270
7-140481411-CC-AG c.1396_1397delinsCT p.G466L Missense 11/18 - 1
7-140481411-C-G c.1397G>C p.G466A Missense 11/18 - 134
7-140481411-C-T c.1397G>A p.G466E Missense 11/18 - 206
7-140481412-C-A c.1396G>T p.G466* Nonsense 11/18 - 6
7-140481412-C-G c.1396G>C p.G466R Missense 11/18 - 87
7-140481412-C-T c.1396G>A p.G466R Missense 11/18 - 88
7-140481412-C-CA c.1395dup p.G466Wfs*14 Frameshift 11/18 - 1
7-140481413-A-C c.1395T>G p.S465= Synonymous 11/18 - 1
7-140481413-A-G c.1395T>C p.S465= Synonymous 11/18 - 1
7-140481413-AGA-CTC c.1393_1395delinsGAG p.S465E Missense 11/18 - 1
7-140481413-A-T c.1395T>A p.S465= Synonymous 11/18 - 1
7-140481414-G-A c.1394C>T p.S465F Missense 11/18 - 7
7-140481414-GA-TC c.1393_1394inv p.S465D Missense 11/18 - 2
7-140481414-G-C c.1394C>G p.S465C Missense 11/18 - 2
7-140481414-G-T c.1394C>A p.S465Y Missense 11/18 - 3
7-140481415-A-C c.1393T>G p.S465A Missense 11/18 - 3
7-140481415-A-G c.1393T>C p.S465P Missense 11/18 - 1
7-140481415-A-T c.1393T>A p.S465T Missense 11/18 - 1
7-140481416-T-A c.1392A>T p.G464= Synonymous 11/18 - 2
7-140481416-T-C c.1392A>G p.G464= Synonymous 11/18 - 3
7-140481416-TC-GT c.1391_1392delinsAC p.G464D Missense 11/18 - 1
7-140481416-T-G c.1392A>C p.G464= Synonymous 11/18 - 2
7-140481417-C-A c.1391G>T p.G464V Missense 11/18 - 190
7-140481417-CC-AT c.1390_1391delinsAT p.G464I Missense 11/18 - 1
7-140481417-CC-GT c.1390_1391delinsAC p.G464T Missense 11/18 - 1
7-140481417-C-G c.1391G>C p.G464A Missense 11/18 - 18
7-140481417-C-T c.1391G>A p.G464E Missense 11/18 - 108
7-140481418-C-A c.1390G>T p.G464* Nonsense 11/18 - 2
7-140481418-C-G c.1390G>C p.G464R Missense 11/18 - 44
7-140481418-C-T c.1390G>A p.G464R Missense 11/18 - 42
7-140481419-A-C c.1389T>G p.I463M Missense 11/18 - 1
7-140481419-A-G c.1389T>C p.I463= Synonymous 11/18 - 1
7-140481419-A-T c.1389T>A p.I463= Synonymous 11/18 - 1
7-140481420-A-C c.1388T>G p.I463S Missense 11/18 - 12
7-140481420-A-G c.1388T>C p.I463T Missense 11/18 - 3
7-140481421-T-A c.1387A>T p.I463F Missense 11/18 - 1
7-140481421-T-C c.1387A>G p.I463V Missense 11/18 - 7
7-140481422-T-C c.1386A>G p.R462= Synonymous 11/18 - 2
7-140481424-T-G c.1384A>C p.R462= Synonymous 11/18 - 2
7-140481423-C-A c.1385G>T p.R462I Missense 11/18 - 26
7-140481423-C-G c.1385G>C p.R462T Missense 11/18 - 9
7-140481423-C-T c.1385G>A p.R462K Missense 11/18 - 18
7-140481423-CT-GC c.1384_1385delinsGC p.R462A Missense 11/18 - 1
7-140481423-CT-TC c.1384_1385delinsGA p.R462E Missense 11/18 - 3
7-140481423-CT-TG c.1384_1385delinsCA p.R462Q Missense 11/18 - 1
7-140481424-T-C c.1384A>G p.R462G Missense 11/18 - 4
7-140481423-CTT-C c.1383_1384del p.R462Nfs*17 Frameshift 11/18 - 1
7-140481425-T-A c.1383A>T p.Q461H Missense 11/18 - 1
7-140481425-T-C c.1383A>G p.Q461= Synonymous 11/18 - 4
7-140481425-T-G c.1383A>C p.Q461H Missense 11/18 - 1
7-140481424-TTTG-T c.1381_1383del p.Q461del InFrameDeletion 11/18 - 1
7-140481426-T-C c.1382A>G p.Q461R Missense 11/18 - 1
7-140481427-G-A c.1381C>T p.Q461* Nonsense 11/18 - 3
7-140481427-G-C c.1381C>G p.Q461E Missense 11/18 - 3
7-140481428-T-A c.1380A>T p.G460= Synonymous 11/18 - 2
7-140481428-T-C c.1380A>G p.G460= Synonymous 11/18 - 7
7-140481428-T-G c.1380A>C p.G460= Synonymous 11/18 - 2
7-140481429-C-A c.1379G>T p.G460V Missense 11/18 - 2
7-140481429-C-T c.1379G>A p.G460E Missense 11/18 - 4
7-140481430-C-A c.1378G>T p.G460* Nonsense 11/18 - 2
7-140481430-C-G c.1378G>C p.G460R Missense 11/18 - 2
7-140481430-C-T c.1378G>A p.G460R Missense 11/18 - 6
7-140481431-C-A c.1377G>T p.V459= Synonymous 11/18 - 4
7-140481431-CAC-AAA c.1375_1377delinsTTT p.V459F Missense 11/18 - 1
7-140481431-C-G c.1377G>C p.V459= Synonymous 11/18 - 4
7-140481431-C-T c.1377G>A p.V459= Synonymous 11/18 - 3
7-140481432-A-G c.1376T>C p.V459A Missense 11/18 - 4
7-140481432-A-T c.1376T>A p.V459E Missense 11/18 - 1
7-140481432-CA-C c.1376del p.V459Gfs*24 Frameshift 11/18 - 1
7-140481433-C-A c.1375G>T p.V459L Missense 11/18 - 15
7-140481433-C-G c.1375G>C p.V459L Missense 11/18 - 14
7-140481433-C-T c.1375G>A p.V459M Missense 11/18 - 4
7-140481434-T-A c.1374A>T p.T458= Synonymous 11/18 - 2
7-140481434-T-C c.1374A>G p.T458= Synonymous 11/18 - 3
7-140481434-T-G c.1374A>C p.T458= Synonymous 11/18 - 2
7-140481434-TG-CA c.1373_1374inv p.T458M Missense 11/18 - 1
7-140481435-G-A c.1373C>T p.T458I Missense 11/18 - 2
7-140481435-G-C c.1373C>G p.T458R Missense 11/18 - 1
7-140481436-T-C c.1372A>G p.T458A Missense 11/18 - 3
7-140481437-A-C c.1371T>G p.I457M Missense 11/18 - 1
7-140481438-A-G c.1370T>C p.I457T Missense 11/18 - 4
7-140481438-A-T c.1370T>A p.I457N Missense 11/18 - 1
7-140481439-T-A c.1369A>T p.I457F Missense 11/18 - 1
7-140481439-T-C c.1369A>G p.I457V Missense 11/18 - 3
7-140481440-C-A c.1368G>T p.Q456H Missense 11/18 - 5
7-140481440-C-G c.1368G>C p.Q456H Missense 11/18 - 4
7-140481440-C-T c.1368G>A p.Q456= Synonymous 11/18 - 3
7-140481441-T-C c.1367A>G p.Q456R Missense 11/18 - 6
7-140481442-G-A c.1366C>T p.Q456* Nonsense 11/18 - 5
7-140481442-G-GA c.1365_1366insT p.Q456Sfs*24 Frameshift 11/18 - 1
7-140481442-G-T c.1366C>A p.Q456K Missense 11/18 - 2
7-140481443-C-A c.1365G>T p.G455= Synonymous 11/18 - 3
7-140481443-CC-GT c.1364_1365delinsAC p.G455D Missense 11/18 - 1
7-140481443-C-G c.1365G>C p.G455= Synonymous 11/18 - 2
7-140481443-C-T c.1365G>A p.G455= Synonymous 11/18 - 3
7-140481444-C-A c.1364G>T p.G455V Missense 11/18 - 1
7-140481444-C-T c.1364G>A p.G455E Missense 11/18 - 7
7-140481445-C-A c.1363G>T p.G455W Missense 11/18 - 2
7-140481445-C-G c.1363G>C p.G455R Missense 11/18 - 5
7-140481445-C-T c.1363G>A p.G455R Missense 11/18 - 8
7-140481446-A-G c.1362T>C p.D454= Synonymous 11/18 - 1
7-140481446-ATC-CCA c.1360_1362delinsTGG p.D454W Missense 11/18 - 1
7-140481444-CCAT-C c.1361_1363del p.D454del InFrameDeletion 11/18 - 1
7-140481447-T-A c.1361A>T p.D454V Missense 11/18 - 1
7-140481447-T-C c.1361A>G p.D454G Missense 11/18 - 4
7-140481447-T-G c.1361A>C p.D454A Missense 11/18 - 1
7-140481448-C-A c.1360G>T p.D454Y Missense 11/18 - 1
7-140481448-C-G c.1360G>C p.D454H Missense 11/18 - 1
7-140481448-C-T c.1360G>A p.D454N Missense 11/18 - 4
7-140481449-A-C c.1359T>G p.P453= Synonymous 11/18 - 3
7-140481449-A-G c.1359T>C p.P453= Synonymous 11/18 - 7
7-140481449-AG-TT c.1358_1359delinsAA p.P453Q Missense 11/18 - 1
7-140481449-A-T c.1359T>A p.P453= Synonymous 11/18 - 3
7-140481450-G-A c.1358C>T p.P453L Missense 11/18 - 3
7-140481450-G-T c.1358C>A p.P453H Missense 11/18 - 3
7-140481451-G-A c.1357C>T p.P453S Missense 11/18 - 3
7-140481451-G-C c.1357C>G p.P453A Missense 11/18 - 5
7-140481451-G-T c.1357C>A p.P453T Missense 11/18 - 5
7-140481452-A-G c.1356T>C p.I452= Synonymous 11/18 - 3
7-140481452-A-T c.1356T>A p.I452= Synonymous 11/18 - 2
7-140481453-A-C c.1355T>G p.I452S Missense 11/18 - 1
7-140481453-A-G c.1355T>C p.I452T Missense 11/18 - 2
7-140481454-T-A c.1354A>T p.I452F Missense 11/18 - 1
7-140481454-T-C c.1354A>G p.I452V Missense 11/18 - 2
7-140481455-C-A c.1353G>T p.E451D Missense 11/18 - 4
7-140481455-C-G c.1353G>C p.E451D Missense 11/18 - 3
7-140481455-C-T c.1353G>A p.E451= Synonymous 11/18 - 2
7-140481456-T-C c.1352A>G p.E451G Missense 11/18 - 8
7-140481457-C-A c.1351G>T p.E451* Nonsense 11/18 - 1
7-140481457-C-G c.1351G>C p.E451Q Missense 11/18 - 6
7-140481457-C-T c.1351G>A p.E451K Missense 11/18 - 6
7-140481458-C-A c.1350G>T p.W450C Missense 11/18 - 1
7-140481456-TC-T c.1351del p.E451Rfs*32 Frameshift 11/18 - 1
7-140481458-C-T c.1350G>A p.W450* Nonsense 11/18 - 5
7-140481459-C-A c.1349G>T p.W450L Missense 11/18 - 8
7-140481459-CA-GC c.1348_1349delinsGC p.W450A Missense 11/18 - 2
7-140481459-C-T c.1349G>A p.W450* Nonsense 11/18 - 7
7-140481460-A-G c.1348T>C p.W450R Missense 11/18 - 2
7-140481460-A-T c.1348T>A p.W450R Missense 11/18 - 2
7-140481461-A-C c.1347T>G p.D449E Missense 11/18 - 5
7-140481461-A-G c.1347T>C p.D449= Synonymous 11/18 - 2
7-140481461-A-T c.1347T>A p.D449E Missense 11/18 - 5
7-140481463-C-A c.1345G>T p.D449Y Missense 11/18 - 2
7-140481463-C-T c.1345G>A p.D449N Missense 11/18 - 8
7-140481465-T-C c.1343A>G p.D448G Missense 11/18 - 3
7-140481465-T-G c.1343A>C p.D448A Missense 11/18 - 3
7-140481466-C-A c.1342G>T p.D448Y Missense 11/18 - 2
7-140481466-C-G c.1342G>C p.D448H Missense 11/18 - 1
7-140481467-A-C c.1341T>G p.S447R Missense 11/18 - 1
7-140481467-ACT-TCA c.1339_1341delinsTGA p.S447* Nonsense 11/18 - 1
7-140481467-A-G c.1341T>C p.S447= Synonymous 11/18 - 1
7-140481467-A-T c.1341T>A p.S447R Missense 11/18 - 1
7-140481469-T-G c.1339A>C p.S447R Missense 11/18 - 1
7-140481468-C-A c.1340G>T p.S447I Missense 11/18 - 4
7-140481468-C-T c.1340G>A p.S447N Missense 11/18 - 3
7-140481470-C-A c.1338G>T p.S446= Synonymous 11/18 - 1
7-140481470-C-G c.1338G>C p.S446= Synonymous 11/18 - 1
7-140481470-C-T c.1338G>A p.S446= Synonymous 11/18 - 2
7-140481471-G-A c.1337C>T p.S446L Missense 11/18 - 6
7-140481475-C-A c.1333G>T p.D445Y Missense 11/18 - 3
7-140481475-C-T c.1333G>A p.D445N Missense 11/18 - 1
7-140481476-C-A c.1332G>T p.R444= Synonymous 11/18 - 2
7-140481476-CC-AT c.1331_1332delinsAT p.R444H Missense 11/18 - 1
7-140481476-C-T c.1332G>A p.R444= Synonymous 11/18 - 10
7-140481477-C-A c.1331G>T p.R444L Missense 11/18 - 3
7-140481477-C-T c.1331G>A p.R444Q Missense 11/18 - 13
7-140481478-G-A c.1330C>T p.R444W Missense 11/18 - 31
7-140481479-T-C c.1329A>G p.R443= Synonymous 11/18 - 1
7-140481479-TCT-ACA c.1327_1329delinsTGT p.R443C Missense 11/18 - 1
7-140481481-T-G c.1327A>C p.R443= Synonymous 11/18 - 1
7-140481480-C-A c.1328G>T p.R443I Missense 11/18 - 2
7-140481480-C-G c.1328G>C p.R443T Missense 11/18 - 4
7-140481480-CT-GC c.1327_1328delinsGC p.R443A Missense 11/18 - 1
7-140481481-T-A c.1327A>T p.R443* Nonsense 11/18 - 1
7-140481481-T-C c.1327A>G p.R443G Missense 11/18 - 1
7-140481482-A-G c.1326T>C p.G442= Synonymous 11/18 - 1
7-140481483-C-A c.1325G>T p.G442V Missense 11/18 - 1
7-140481483-C-T c.1325G>A p.G442D Missense 11/18 - 4
7-140481484-C-A c.1324G>T p.G442C Missense 11/18 - 3
7-140481484-C-T c.1324G>A p.G442S Missense 11/18 - 8
7-140481485-A-T c.1323T>A p.L441= Synonymous 11/18 - 1
7-140481486-A-G c.1322T>C p.L441P Missense 11/18 - 1
7-140481487-G-A c.1321C>T p.L441F Missense 11/18 - 2
7-140481487-G-C c.1321C>G p.L441V Missense 11/18 - 1
7-140481487-G-T c.1321C>A p.L441I Missense 11/18 - 1
7-140481489-G-A c.1319C>T p.T440I Missense 11/18 - 5
7-140481490-T-C c.1318A>G p.T440A Missense 11/18 - 3
7-140481490-T-G c.1318A>C p.T440P Missense 11/18 - 6
7-140481491-T-C c.1317A>G p.K439= Synonymous 11/18 - 2
7-140481492-T-C c.1316A>G p.K439R Missense 11/18 - 1
7-140481492-T-G c.1316A>C p.K439T Missense 11/18 - 2
7-140481493-T-C c.1315A>G p.K439E Missense 11/18 - 1
7-140481493-T-G c.1315A>C p.K439Q Missense 11/18 - 2
7-140481502-A-G c.1315-9T>C - IntronicSNV - 10/17 1
7-140481511-A-C c.1315-18T>G - IntronicSNV - 10/17 2
7-140482243-C-T c.1314+578G>A - IntronicSNV - 10/17 1
7-140482257-T-A c.1314+564A>T - IntronicSNV - 10/17 1
7-140482258-C-T c.1314+563G>A - IntronicSNV - 10/17 1
7-140482261-T-A c.1314+560A>T - IntronicSNV - 10/17 1
7-140482261-TC-T c.1314+559del - IntronicDeletion - 10/17 2
7-140482263-C-A c.1314+558G>T - IntronicSNV - 10/17 1
7-140482263-CCAA-C c.1314+556_1314+558del - IntronicDeletion - 10/17 1
7-140482264-A-C c.1314+557T>G - IntronicSNV - 10/17 1
7-140482263-C-CA c.1314+557dup - IntronicInsertion - 10/17 1
7-140482280-T-A c.1314+541A>T - IntronicSNV - 10/17 1
7-140482281-C-A c.1314+540G>T - IntronicSNV - 10/17 2
7-140482284-C-A c.1314+537G>T - IntronicSNV - 10/17 1
7-140482286-T-A c.1314+535A>T - IntronicSNV - 10/17 1
7-140482288-T-A c.1314+533A>T - IntronicSNV - 10/17 1
7-140482293-T-A c.1314+528A>T - IntronicSNV - 10/17 1
7-140482296-C-A c.1314+525G>T - IntronicSNV - 10/17 1
7-140482300-G-T c.1314+521C>A - IntronicSNV - 10/17 1
7-140482301-G-T c.1314+520C>A - IntronicSNV - 10/17 1
7-140482302-T-A c.1314+519A>T - IntronicSNV - 10/17 1
7-140482304-G-A c.1314+517C>T - IntronicSNV - 10/17 1
7-140482307-T-A c.1314+514A>T - IntronicSNV - 10/17 1
7-140482312-G-A c.1314+509C>T - IntronicSNV - 10/17 1
7-140482314-T-A c.1314+507A>T - IntronicSNV - 10/17 1
7-140482346-G-A c.1314+475C>T - IntronicSNV - 10/17 1
7-140482427-T-C c.1314+394A>G - IntronicSNV - 10/17 3
7-140482668-C-G c.1314+153G>C - IntronicSNV - 10/17 1
7-140482810-T-C c.1314+11A>G - IntronicSNV - 10/17 1
7-140482818-T-C c.1314+3A>G - IntronicSNV - 10/17 1
7-140482819-A-C c.1314+2T>G - IntronicSNV - 10/17 3
7-140482819-A-T c.1314+2T>A - IntronicSNV - 10/17 1
7-140482820-C-A c.1314+1G>T - IntronicSNV - 10/17 1
7-140482821-C-A c.1314G>T p.M438I Missense 10/18 - 2
7-140482821-CCAT-C c.1312_1314del p.M438del InFrameDeletion 10/18 - 1
7-140482821-C-G c.1314G>C p.M438I Missense 10/18 - 1
7-140482821-C-T c.1314G>A p.M438I Missense 10/18 - 1
7-140482822-A-G c.1313T>C p.M438T Missense 10/18 - 1
7-140482823-T-C c.1312A>G p.M438V Missense 10/18 - 1
7-140482824-T-C c.1311A>G p.R437= Synonymous 10/18 - 1
7-140482824-TC-AT c.1310_1311delinsAT p.R437H Missense 10/18 - 1
7-140482824-TCG-ACA c.1309_1311delinsTGT p.R437C Missense 10/18 - 1
7-140482825-C-A c.1310G>T p.R437L Missense 10/18 - 1
7-140482825-CG-GC c.1309_1310delinsGC p.R437A Missense 10/18 - 1
7-140482825-C-T c.1310G>A p.R437Q Missense 10/18 - 4
7-140482825-TC-T c.1310del p.R437Qfs*2 Frameshift 10/18 - 1
7-140482826-G-A c.1309C>T p.R437* Nonsense 10/18 - 3
7-140482826-G-C c.1309C>G p.R437G Missense 10/18 - 1
7-140482827-A-T c.1308T>A p.N436K Missense 10/18 - 1
7-140482829-T-G c.1306A>C p.N436H Missense 10/18 - 1
7-140482830-C-A c.1305G>T p.R435S Missense 10/18 - 5
7-140482830-CCT-ATG c.1303_1305delinsCAT p.R435H Missense 10/18 - 1
7-140482830-C-G c.1305G>C p.R435S Missense 10/18 - 3
7-140482830-C-T c.1305G>A p.R435= Synonymous 10/18 - 3
7-140482832-T-G c.1303A>C p.R435= Synonymous 10/18 - 1
7-140482831-C-A c.1304G>T p.R435M Missense 10/18 - 1
7-140482831-C-T c.1304G>A p.R435K Missense 10/18 - 1
7-140482831-CT-TG c.1303_1304delinsCA p.R435Q Missense 10/18 - 1
7-140482832-T-A c.1303A>T p.R435W Missense 10/18 - 1
7-140482832-T-C c.1303A>G p.R435G Missense 10/18 - 4
7-140482833-G-T c.1302C>A p.D434E Missense 10/18 - 1
7-140482835-C-A c.1300G>T p.D434Y Missense 10/18 - 1
7-140482835-C-T c.1300G>A p.D434N Missense 10/18 - 4
7-140482836-T-A c.1299A>T p.E433D Missense 10/18 - 1
7-140482836-T-G c.1299A>C p.E433D Missense 10/18 - 1
7-140482838-C-G c.1297G>C p.E433Q Missense 10/18 - 1
7-140482838-C-T c.1297G>A p.E433K Missense 10/18 - 12
7-140482839-TG-AC c.1295_1296delinsGT p.S432C Missense 10/18 - 1
7-140482840-G-A c.1295C>T p.S432L Missense 10/18 - 2
7-140482840-G-C c.1295C>G p.S432* Nonsense 10/18 - 1
7-140482840-G-T c.1295C>A p.S432* Nonsense 10/18 - 2
7-140482841-A-G c.1294T>C p.S432P Missense 10/18 - 2
7-140482842-G-T c.1293C>A p.S431= Synonymous 10/18 - 1
7-140482843-G-A c.1292C>T p.S431F Missense 10/18 - 1
7-140482843-GA-TC c.1291_1292inv p.S431D Missense 10/18 - 1
7-140482843-G-T c.1292C>A p.S431Y Missense 10/18 - 1
7-140482844-A-C c.1291T>G p.S431A Missense 10/18 - 1
7-140482845-TG-AA c.1289_1290delinsTT p.S430F Missense 10/18 - 1
7-140482846-G-A c.1289C>T p.S430L Missense 10/18 - 1
7-140482846-G-T c.1289C>A p.S430* Nonsense 10/18 - 1
7-140482849-GA-CG c.1285_1286delinsCG p.S429R Missense 10/18 - 1
7-140482849-G-T c.1286C>A p.S429Y Missense 10/18 - 2
7-140482850-A-C c.1285T>G p.S429A Missense 10/18 - 2
7-140482850-GAT-G c.1284_1285del p.S429Ffs*14 Frameshift 10/18 - 1
7-140482852-G-A c.1283C>T p.S428L Missense 10/18 - 1
7-140482852-G-C c.1283C>G p.S428* Nonsense 10/18 - 1
7-140482852-G-T c.1283C>A p.S428* Nonsense 10/18 - 5
7-140482853-A-G c.1282T>C p.S428P Missense 10/18 - 1
7-140482853-A-T c.1282T>A p.S428T Missense 10/18 - 5
7-140482854-C-A c.1281G>T p.K427N Missense 10/18 - 1
7-140482855-T-C c.1280A>G p.K427R Missense 10/18 - 1
7-140482857-C-A c.1278G>T p.R426S Missense 10/18 - 1
7-140482857-C-T c.1278G>A p.R426= Synonymous 10/18 - 1
7-140482858-C-A c.1277G>T p.R426M Missense 10/18 - 1
7-140482858-CT-TG c.1276_1277delinsCA p.R426Q Missense 10/18 - 1
7-140482859-T-A c.1276A>T p.R426W Missense 10/18 - 1
7-140482862-C-A c.1273G>T p.E425* Nonsense 10/18 - 1
7-140482863-TCG-ACA c.1270_1272delinsTGT p.R424C Missense 10/18 - 1
7-140482863-TCG-CCA c.1270_1272delinsTGG p.R424W Missense 10/18 - 2
7-140482864-C-A c.1271G>T p.R424L Missense 10/18 - 4
7-140482864-CG-AT c.1270_1271delinsAT p.R424I Missense 10/18 - 1
7-140482864-CG-TT c.1270_1271delinsAA p.R424K Missense 10/18 - 1
7-140482864-C-T c.1271G>A p.R424Q Missense 10/18 - 6
7-140482865-G-A c.1270C>T p.R424* Nonsense 10/18 - 4
7-140482866-C-A c.1269G>T p.Q423H Missense 10/18 - 3
7-140482866-C-G c.1269G>C p.Q423H Missense 10/18 - 1
7-140482867-T-C c.1268A>G p.Q423R Missense 10/18 - 1
7-140482868-G-A c.1267C>T p.Q423* Nonsense 10/18 - 2
7-140482869-A-G c.1266T>C p.P422= Synonymous 10/18 - 1
7-140482870-G-A c.1265C>T p.P422L Missense 10/18 - 2
7-140482870-G-T c.1265C>A p.P422H Missense 10/18 - 1
7-140482871-G-A c.1264C>T p.P422S Missense 10/18 - 3
7-140482871-G-C c.1264C>G p.P422A Missense 10/18 - 3
7-140482872-T-A c.1263A>T p.G421= Synonymous 10/18 - 1
7-140482872-TCC-CCA c.1261_1263delinsTGG p.G421W Missense 10/18 - 1
7-140482873-C-A c.1262G>T p.G421V Missense 10/18 - 6
7-140482874-C-A c.1261G>T p.G421* Nonsense 10/18 - 1
7-140482874-C-G c.1261G>C p.G421R Missense 10/18 - 2
7-140482874-C-T c.1261G>A p.G421R Missense 10/18 - 3
7-140482875-T-C c.1260A>G p.P420= Synonymous 10/18 - 1
7-140482876-G-A c.1259C>T p.P420L Missense 10/18 - 1
7-140482877-G-A c.1258C>T p.P420S Missense 10/18 - 2
7-140482877-G-T c.1258C>A p.P420T Missense 10/18 - 1
7-140482878-A-G c.1257T>C p.S419= Synonymous 10/18 - 1
7-140482879-G-A c.1256C>T p.S419F Missense 10/18 - 2
7-140482879-GA-AG c.1255_1256delinsCT p.S419L Missense 10/18 - 1
7-140482879-G-T c.1256C>A p.S419Y Missense 10/18 - 7
7-140482880-A-C c.1255T>G p.S419A Missense 10/18 - 1
7-140482881-T-A c.1254A>T p.K418N Missense 10/18 - 1
7-140482881-T-G c.1254A>C p.K418N Missense 10/18 - 1
7-140482882-T-C c.1253A>G p.K418R Missense 10/18 - 2
7-140482880-AT-A c.1254del p.K418Nfs*21 Frameshift 10/18 - 1
7-140482883-T-G c.1252A>C p.K418Q Missense 10/18 - 1
7-140482884-C-A c.1251G>T p.Q417H Missense 10/18 - 3
7-140482884-C-G c.1251G>C p.Q417H Missense 10/18 - 1
7-140482886-G-A c.1249C>T p.Q417* Nonsense 10/18 - 1
7-140482888-A-G c.1247T>C p.L416S Missense 10/18 - 2
7-140482889-A-C c.1246T>G p.L416V Missense 10/18 - 1
7-140482889-A-G c.1246T>C p.L416= Synonymous 10/18 - 2
7-140482890-G-A c.1245C>T p.A415= Synonymous 10/18 - 1
7-140482891-G-A c.1244C>T p.A415V Missense 10/18 - 2
7-140482891-G-T c.1244C>A p.A415D Missense 10/18 - 1
7-140482892-C-A c.1243G>T p.A415S Missense 10/18 - 1
7-140482892-C-T c.1243G>A p.A415T Missense 10/18 - 3
7-140482893-T-A c.1242A>T p.K414N Missense 10/18 - 1
7-140482893-T-C c.1242A>G p.K414= Synonymous 10/18 - 1
7-140482893-T-G c.1242A>C p.K414N Missense 10/18 - 1
7-140482894-T-C c.1241A>G p.K414R Missense 10/18 - 1
7-140482895-T-C c.1240A>G p.K414E Missense 10/18 - 1
7-140482896-C-A c.1239G>T p.V413= Synonymous 10/18 - 3
7-140482896-CAC-GAT c.1237_1239delinsATC p.V413I Missense 10/18 - 1
7-140482896-C-G c.1239G>C p.V413= Synonymous 10/18 - 2
7-140482896-C-T c.1239G>A p.V413= Synonymous 10/18 - 3
7-140482898-C-A c.1237G>T p.V413L Missense 10/18 - 2
7-140482898-C-G c.1237G>C p.V413L Missense 10/18 - 1
7-140482898-C-T c.1237G>A p.V413M Missense 10/18 - 7
7-140482899-G-A c.1236C>T p.N412= Synonymous 10/18 - 3
7-140482899-G-C c.1236C>G p.N412K Missense 10/18 - 1
7-140482899-G-T c.1236C>A p.N412K Missense 10/18 - 1
7-140482900-T-C c.1235A>G p.N412S Missense 10/18 - 1
7-140482901-T-C c.1234A>G p.N412D Missense 10/18 - 1
7-140482901-T-G c.1234A>C p.N412H Missense 10/18 - 1
7-140482903-G-A c.1232C>T p.T411I Missense 10/18 - 3
7-140482904-T-C c.1231A>G p.T411A Missense 10/18 - 1
7-140482898-CGTTA-C c.1233_1236del p.N412* Frameshift 10/18 - 1
7-140482905-T-A c.1230A>T p.L410= Synonymous 10/18 - 1
7-140482905-T-C c.1230A>G p.L410= Synonymous 10/18 - 1
7-140482905-T-G c.1230A>C p.L410= Synonymous 10/18 - 2
7-140482907-G-A c.1228C>T p.L410= Synonymous 10/18 - 1
7-140482906-A-G c.1229T>C p.L410P Missense 10/18 - 1
7-140482906-A-T c.1229T>A p.L410Q Missense 10/18 - 2
7-140482907-G-T c.1228C>A p.L410I Missense 10/18 - 2
7-140482907-G-GT c.1227dup p.L410Tfs*3 Frameshift 10/18 - 1
7-140482908-T-A c.1227A>T p.S409= Synonymous 10/18 - 2
7-140482908-T-C c.1227A>G p.S409= Synonymous 10/18 - 4
7-140482908-TG-AA c.1226_1227delinsTT p.S409F Missense 10/18 - 1
7-140482909-G-A c.1226C>T p.S409L Missense 10/18 - 4
7-140482909-G-C c.1226C>G p.S409* Nonsense 10/18 - 1
7-140482909-G-T c.1226C>A p.S409* Nonsense 10/18 - 2
7-140482910-A-C c.1225T>G p.S409A Missense 10/18 - 1
7-140482910-A-G c.1225T>C p.S409P Missense 10/18 - 1
7-140482910-A-T c.1225T>A p.S409T Missense 10/18 - 1
7-140482911-G-A c.1224C>T p.G408= Synonymous 10/18 - 1
7-140482912-C-A c.1223G>T p.G408V Missense 10/18 - 1
7-140482912-C-T c.1223G>A p.G408D Missense 10/18 - 1
7-140482913-C-A c.1222G>T p.G408C Missense 10/18 - 1
7-140482915-G-A c.1220C>T p.P407L Missense 10/18 - 4
7-140482915-G-T c.1220C>A p.P407H Missense 10/18 - 2
7-140482916-G-A c.1219C>T p.P407S Missense 10/18 - 1
7-140482918-A-G c.1217T>C p.L406S Missense 10/18 - 1
7-140482920-TG-AC c.1214_1215delinsGT p.S405C Missense 10/18 - 1
7-140482921-G-A c.1214C>T p.S405L Missense 10/18 - 3
7-140482922-A-C c.1213T>G p.S405A Missense 10/18 - 1
7-140482922-A-G c.1213T>C p.S405P Missense 10/18 - 1
7-140482923-G-T c.1212C>A p.A404= Synonymous 10/18 - 1
7-140482922-AG-A c.1212del p.S405Hfs*6 Frameshift 10/18 - 1
7-140482924-G-A c.1211C>T p.A404V Missense 10/18 - 1
7-140482924-GC-CA c.1210_1211delinsTG p.A404C Missense 10/18 - 1
7-140482924-G-T c.1211C>A p.A404D Missense 10/18 - 1
7-140482925-C-A c.1210G>T p.A404S Missense 10/18 - 2
7-140482925-C-CG c.1209_1210insC p.A404Rfs*9 Frameshift 10/18 - 3
7-140482925-C-G c.1210G>C p.A404P Missense 10/18 - 1
7-140482925-C-T c.1210G>A p.A404T Missense 10/18 - 1
7-140482925-C-CA c.1209dup p.A404Cfs*9 Frameshift 10/18 - 6
7-140482926-CA-C c.1209del p.A404Pfs*7 Frameshift 10/18 - 1
7-140482927-G-A c.1208C>T p.P403L Missense 10/18 - 5
7-140482928-G-A c.1207C>T p.P403S Missense 10/18 - 3
7-140482928-G-C c.1207C>G p.P403A Missense 10/18 - 2
7-140482928-G-T c.1207C>A p.P403T Missense 10/18 - 1
7-140482929-G-A c.1206C>T p.P402= Synonymous 10/18 - 1
7-140482929-G-C c.1206C>G p.P402= Synonymous 10/18 - 1
7-140482929-G-T c.1206C>A p.P402= Synonymous 10/18 - 1
7-140482930-G-A c.1205C>T p.P402L Missense 10/18 - 6
7-140482930-G-C c.1205C>G p.P402R Missense 10/18 - 3
7-140482930-G-T c.1205C>A p.P402H Missense 10/18 - 4
7-140482931-G-A c.1204C>T p.P402S Missense 10/18 - 1
7-140482931-G-C c.1204C>G p.P402A Missense 10/18 - 2
7-140482932-G-A c.1203C>T p.T401= Synonymous 10/18 - 3
7-140482932-G-C c.1203C>G p.T401= Synonymous 10/18 - 1
7-140482932-GG-CA c.1202_1203delinsTG p.T401M Missense 10/18 - 1
7-140482932-G-T c.1203C>A p.T401= Synonymous 10/18 - 3
7-140482926-A-AG c.1208dup p.A404Cfs*9 Frameshift 10/18 - 21
7-140482926-AG-A c.1208del p.P403Lfs*8 Frameshift 10/18 - 19
7-140482933-G-A c.1202C>T p.T401I Missense 10/18 - 9
7-140482934-T-C c.1201A>G p.T401A Missense 10/18 - 5
7-140482935-AG-CT c.1199_1200inv p.A400E Missense 10/18 - 1
7-140482936-G-A c.1199C>T p.A400V Missense 10/18 - 5
7-140482936-G-T c.1199C>A p.A400D Missense 10/18 - 1
7-140482937-C-A c.1198G>T p.A400S Missense 10/18 - 2
7-140482937-C-T c.1198G>A p.A400T Missense 10/18 - 1
7-140482939-GA-AT c.1195_1196delinsAT p.S399I Missense 10/18 - 1
7-140482939-GA-CG c.1195_1196delinsCG p.S399R Missense 10/18 - 1
7-140482940-A-C c.1195T>G p.S399A Missense 10/18 - 1
7-140482941-C-A c.1194G>T p.L398F Missense 10/18 - 2
7-140482942-AA-GG c.1192_1193delinsCC p.L398P Missense 10/18 - 1
7-140482942-A-T c.1193T>A p.L398* Nonsense 10/18 - 2
7-140482945-C-A c.1190G>T p.G397V Missense 10/18 - 1
7-140482945-C-T c.1190G>A p.G397D Missense 10/18 - 3
7-140482946-C-A c.1189G>T p.G397C Missense 10/18 - 3
7-140482946-C-T c.1189G>A p.G397S Missense 10/18 - 5
7-140482947-T-A c.1188A>T p.T396= Synonymous 10/18 - 2
7-140482947-T-C c.1188A>G p.T396= Synonymous 10/18 - 2
7-140482947-T-G c.1188A>C p.T396= Synonymous 10/18 - 1
7-140482948-G-A c.1187C>T p.T396I Missense 10/18 - 1
7-140482948-G-GCC c.1186_1187insGG p.T396Rfs*16 Frameshift 10/18 - 1
7-140482950-G-A c.1185C>T p.T395= Synonymous 10/18 - 1
7-140482950-G-T c.1185C>A p.T395= Synonymous 10/18 - 1
7-140482952-T-C c.1183A>G p.T395A Missense 10/18 - 4
7-140482952-T-G c.1183A>C p.T395P Missense 10/18 - 1
7-140482953-T-C c.1182A>G p.S394= Synonymous 10/18 - 1
7-140482953-TG-AA c.1181_1182delinsTT p.S394F Missense 10/18 - 2
7-140482953-TGA-GTC c.1180_1182delinsGAC p.S394D Missense 10/18 - 1
7-140482954-G-A c.1181C>T p.S394L Missense 10/18 - 2
7-140482954-G-C c.1181C>G p.S394* Nonsense 10/18 - 5
7-140482954-G-T c.1181C>A p.S394* Nonsense 10/18 - 1
7-140482955-A-C c.1180T>G p.S394A Missense 10/18 - 2
7-140482955-A-G c.1180T>C p.S394P Missense 10/18 - 2
7-140482956-TC-GT c.1178_1179delinsAC p.G393D Missense 10/18 - 5
7-140482957-C-A c.1178G>T p.G393V Missense 10/18 - 1
7-140482957-C-T c.1178G>A p.G393E Missense 10/18 - 1
7-140482967-T-A c.1178-10A>T - IntronicSNV - 9/17 1
7-140482967-T-C c.1178-10A>G - IntronicSNV - 9/17 1
7-140483037-A-G c.1178-80T>C - IntronicSNV - 9/17 3
7-140483061-G-C c.1178-104C>G - IntronicSNV - 9/17 1
7-140483231-A-T c.1178-274T>A - IntronicSNV - 9/17 2
7-140483331-T-A c.1178-374A>T - IntronicSNV - 9/17 1
7-140483387-A-T c.1178-430T>A - IntronicSNV - 9/17 1
7-140483400-T-C c.1178-443A>G - IntronicSNV - 9/17 4
7-140483605-C-T c.1178-648G>A - IntronicSNV - 9/17 3
7-140484248-A-T c.1178-1291T>A - IntronicSNV - 9/17 1
7-140485234-G-A c.1177+2114C>T - IntronicSNV - 9/17 1
7-140485297-C-T c.1177+2051G>A - IntronicSNV - 9/17 2
7-140485334-G-A c.1177+2014C>T - IntronicSNV - 9/17 1
7-140485335-T-C c.1177+2013A>G - IntronicSNV - 9/17 3
7-140485544-T-G c.1177+1804A>C - IntronicSNV - 9/17 2
7-140485553-A-G c.1177+1795T>C - IntronicSNV - 9/17 1
7-140485595-C-T c.1177+1753G>A - IntronicSNV - 9/17 2
7-140485690-C-A c.1177+1658G>T - IntronicSNV - 9/17 4
7-140485690-C-T c.1177+1658G>A - IntronicSNV - 9/17 4
7-140485714-T-C c.1177+1634A>G - IntronicSNV - 9/17 1
7-140485727-G-A c.1177+1621C>T - IntronicSNV - 9/17 2
7-140485853-T-C c.1177+1495A>G - IntronicSNV - 9/17 1
7-140485906-C-G c.1177+1442G>C - IntronicSNV - 9/17 1
7-140485966-T-C c.1177+1382A>G - IntronicSNV - 9/17 1
7-140485972-A-G c.1177+1376T>C - IntronicSNV - 9/17 1
7-140485985-GA-G c.1177+1362del - IntronicDeletion - 9/17 1
7-140486112-T-A c.1177+1236A>T - IntronicSNV - 9/17 1
7-140486118-C-T c.1177+1230G>A - IntronicSNV - 9/17 2
7-140486196-G-C c.1177+1152C>G - IntronicSNV - 9/17 1
7-140486288-C-T c.1177+1060G>A - IntronicSNV - 9/17 3
7-140486513-A-G c.1177+835T>C - IntronicSNV - 9/17 3
7-140486743-T-C c.1177+605A>G - IntronicSNV - 9/17 3
7-140487079-C-A c.1177+269G>T - IntronicSNV - 9/17 1
7-140487079-C-T c.1177+269G>A - IntronicSNV - 9/17 2
7-140487100-CAAAA-C c.1177+244_1177+247del - IntronicDeletion - 9/17 1
7-140487100-CAA-C c.1177+246_1177+247del - IntronicDeletion - 9/17 1
7-140487100-C-CA c.1177+247dup - IntronicInsertion - 9/17 1
7-140487190-G-A c.1177+158C>T - IntronicSNV - 9/17 1
7-140487202-C-A c.1177+146G>T - IntronicSNV - 9/17 5
7-140487202-C-T c.1177+146G>A - IntronicSNV - 9/17 10
7-140487347-C-A c.1177+1G>T - IntronicSNV - 9/17 1
7-140487347-C-T c.1177+1G>A - IntronicSNV - 9/17 1
7-140487348-C-A c.1177G>T p.G393* Nonsense 9/18 - 3
7-140487348-C-G c.1177G>C p.G393R Missense 9/18 - 1
7-140487348-C-T c.1177G>A p.G393R Missense 9/18 - 4
7-140487349-T-A c.1176A>T p.G392= Synonymous 9/18 - 1
7-140487349-T-C c.1176A>G p.G392= Synonymous 9/18 - 1
7-140487350-C-A c.1175G>T p.G392V Missense 9/18 - 2
7-140487350-C-T c.1175G>A p.G392E Missense 9/18 - 1
7-140487349-TC-T c.1175del p.G392Efs*19 Frameshift 9/18 - 1
7-140487351-C-A c.1174G>T p.G392* Nonsense 9/18 - 2
7-140487351-C-T c.1174G>A p.G392R Missense 9/18 - 1
7-140487352-A-T c.1173T>A p.D391E Missense 9/18 - 1
7-140487353-T-C c.1172A>G p.D391G Missense 9/18 - 1
7-140487354-C-A c.1171G>T p.D391Y Missense 9/18 - 1
7-140487354-TC-T c.1171del p.D391Mfs*20 Frameshift 9/18 - 1
7-140487356-C-A c.1169G>T p.G390V Missense 9/18 - 3
7-140487356-C-T c.1169G>A p.G390D Missense 9/18 - 2
7-140487357-C-A c.1168G>T p.G390C Missense 9/18 - 1
7-140487357-C-G c.1168G>C p.G390R Missense 9/18 - 2
7-140487357-C-T c.1168G>A p.G390S Missense 9/18 - 1
7-140487358-ACG-TCA c.1165_1167delinsTGA p.R389* Nonsense 9/18 - 1
7-140487359-C-A c.1166G>T p.R389L Missense 9/18 - 1
7-140487359-C-T c.1166G>A p.R389H Missense 9/18 - 10
7-140487360-G-A c.1165C>T p.R389C Missense 9/18 - 26
7-140487360-G-C c.1165C>G p.R389G Missense 9/18 - 2
7-140487360-G-T c.1165C>A p.R389S Missense 9/18 - 1
7-140487361-A-C c.1164T>G p.F388L Missense 9/18 - 3
7-140487361-A-T c.1164T>A p.F388L Missense 9/18 - 3
7-140487363-A-G c.1162T>C p.F388L Missense 9/18 - 3
7-140487365-C-A c.1160G>T p.G387V Missense 9/18 - 2
7-140487366-C-T c.1159G>A p.G387R Missense 9/18 - 1
7-140487367-T-C c.1158A>G p.Q386= Synonymous 9/18 - 1
7-140487368-T-A c.1157A>T p.Q386L Missense 9/18 - 2
7-140487368-T-C c.1157A>G p.Q386R Missense 9/18 - 1
7-140487368-T-G c.1157A>C p.Q386P Missense 9/18 - 3
7-140487369-G-A c.1156C>T p.Q386* Nonsense 9/18 - 1
7-140487369-G-T c.1156C>A p.Q386K Missense 9/18 - 2
7-140487371-T-C c.1154A>G p.D385G Missense 9/18 - 1
7-140487371-T-G c.1154A>C p.D385A Missense 9/18 - 1
7-140487372-C-A c.1153G>T p.D385Y Missense 9/18 - 1
7-140487372-C-G c.1153G>C p.D385H Missense 9/18 - 1
7-140487372-C-T c.1153G>A p.D385N Missense 9/18 - 5
7-140487373-T-C c.1152A>G p.R384= Synonymous 9/18 - 1
7-140487373-TCT-ATG c.1150_1152delinsCAT p.R384H Missense 9/18 - 1
7-140487375-T-G c.1150A>C p.R384= Synonymous 9/18 - 1
7-140487374-C-A c.1151G>T p.R384I Missense 9/18 - 1
7-140487374-C-G c.1151G>C p.R384T Missense 9/18 - 3
7-140487374-C-T c.1151G>A p.R384K Missense 9/18 - 1
7-140487375-T-A c.1150A>T p.R384* Nonsense 9/18 - 1
7-140487375-T-C c.1150A>G p.R384G Missense 9/18 - 5
7-140487375-T-TA c.1149dup p.R384* Nonsense 9/18 - 2
7-140487379-C-A c.1146G>T p.L382F Missense 9/18 - 2
7-140487379-C-G c.1146G>C p.L382F Missense 9/18 - 1
7-140487380-AA-GG c.1144_1145delinsCC p.L382P Missense 9/18 - 1
7-140487380-A-G c.1145T>C p.L382S Missense 9/18 - 1
7-140487379-C-T c.1146G>A p.L382= Synonymous 9/18 - 1
7-140487381-A-C c.1144T>G p.L382V Missense 9/18 - 1
7-140487381-A-G c.1144T>C p.L382= Synonymous 9/18 - 1
7-140487381-A-T c.1144T>A p.L382M Missense 9/18 - 1
7-140487382-G-A c.1143C>T p.D381= Synonymous 9/18 - 1
7-140487383-T-C c.1142A>G p.D381G Missense 9/18 - 2
7-140487384-C-A c.1141G>T p.D381Y Missense 9/18 - 2
7-140487384-C-T c.1141G>A p.D381N Missense 9/18 - 1
7-140487386-T-C c.1141-2A>G - IntronicSNV - 8/17 1
7-140487403-G-A c.1141-19C>T - IntronicSNV - 8/17 1
7-140487465-C-T c.1141-81G>A - IntronicSNV - 8/17 1
7-140487494-C-T c.1141-110G>A - IntronicSNV - 8/17 1
7-140487913-C-A c.1141-529G>T - IntronicSNV - 8/17 2
7-140488156-T-G c.1141-772A>C - IntronicSNV - 8/17 3
7-140488689-A-G c.1141-1305T>C - IntronicSNV - 8/17 1
7-140489173-A-G c.1141-1789T>C - IntronicSNV - 8/17 1
7-140489508-C-G c.1141-2124G>C - IntronicSNV - 8/17 1
7-140489562-C-T c.1141-2178G>A - IntronicSNV - 8/17 1
7-140490207-T-C c.1141-2823A>G - IntronicSNV - 8/17 4
7-140490382-C-T c.1141-2998G>A - IntronicSNV - 8/17 3
7-140490505-C-T c.1141-3121G>A - IntronicSNV - 8/17 1
7-140490635-A-G c.1141-3251T>C - IntronicSNV - 8/17 1
7-140490928-C-A c.1140+3180G>T - IntronicSNV - 8/17 4
7-140490938-CA-C c.1140+3169del - IntronicDeletion - 8/17 1
7-140491124-C-T c.1140+2984G>A - IntronicSNV - 8/17 1
7-140491258-C-T c.1140+2850G>A - IntronicSNV - 8/17 3
7-140491264-G-A c.1140+2844C>T - IntronicSNV - 8/17 1
7-140491678-G-A c.1140+2430C>T - IntronicSNV - 8/17 3
7-140491872-A-G c.1140+2236T>C - IntronicSNV - 8/17 1
7-140491977-C-A c.1140+2131G>T - IntronicSNV - 8/17 1
7-140492039-T-C c.1140+2069A>G - IntronicSNV - 8/17 6
7-140492411-T-C c.1140+1697A>G - IntronicSNV - 8/17 3
7-140492879-G-A c.1140+1229C>T - IntronicSNV - 8/17 1
7-140493029-A-G c.1140+1079T>C - IntronicSNV - 8/17 3
7-140493225-T-C c.1140+883A>G - IntronicSNV - 8/17 2
7-140493351-T-C c.1140+757A>G - IntronicSNV - 8/17 3
7-140493460-C-A c.1140+648G>T - IntronicSNV - 8/17 1
7-140493460-C-G c.1140+648G>C - IntronicSNV - 8/17 2
7-140493633-C-A c.1140+475G>T - IntronicSNV - 8/17 1
7-140493882-G-A c.1140+226C>T - IntronicSNV - 8/17 1
7-140493920-G-A c.1140+188C>T - IntronicSNV - 8/17 1
7-140494073-G-GT c.1140+34dup - IntronicInsertion - 8/17 1
7-140494073-GT-G c.1140+34del - IntronicDeletion - 8/17 3
7-140494090-G-T c.1140+18C>A - IntronicSNV - 8/17 1
7-140494099-G-A c.1140+9C>T - IntronicSNV - 8/17 1
7-140494099-G-T c.1140+9C>A - IntronicSNV - 8/17 1
7-140494107-C-A c.1140+1G>T - IntronicSNV - 8/17 1
7-140494107-C-T c.1140+1G>A - IntronicSNV - 8/17 1
7-140494108-CATCAATATTGACAGGTTCTATTGTGTTTATATGCACATTGGGAGCTGATGAGGATCGGT-C c.1082_1140del p.D361Gfs*4 Unclassified 8/18 - 1
7-140494107-CATCA-C c.1137_1140del p.I379Mfs*3 SpliceDonorDeletion 8/18 - 2
7-140494110-C-A c.1138G>T p.D380Y Missense 8/18 - 5
7-140494110-C-G c.1138G>C p.D380H Missense 8/18 - 8
7-140494110-C-T c.1138G>A p.D380N Missense 8/18 - 2
7-140494115-T-A c.1133A>T p.N378I Missense 8/18 - 1
7-140494115-T-C c.1133A>G p.N378S Missense 8/18 - 1
7-140494116-T-C c.1132A>G p.N378D Missense 8/18 - 1
7-140494117-GA-CT c.1130_1131delinsAG p.V377E Missense 8/18 - 1
7-140494118-A-T c.1130T>A p.V377D Missense 8/18 - 2
7-140494119-C-A c.1129G>T p.V377F Missense 8/18 - 2
7-140494120-A-G c.1128T>C p.P376= Synonymous 8/18 - 1
7-140494120-A-T c.1128T>A p.P376= Synonymous 8/18 - 1
7-140494121-G-A c.1127C>T p.P376L Missense 8/18 - 1
7-140494122-G-A c.1126C>T p.P376S Missense 8/18 - 1
7-140494122-G-T c.1126C>A p.P376T Missense 8/18 - 1
7-140494123-T-A c.1125A>T p.E375D Missense 8/18 - 4
7-140494123-T-G c.1125A>C p.E375D Missense 8/18 - 2
7-140494124-T-C c.1124A>G p.E375G Missense 8/18 - 1
7-140494125-C-A c.1123G>T p.E375* Nonsense 8/18 - 6
7-140494125-C-G c.1123G>C p.E375Q Missense 8/18 - 1
7-140494125-C-T c.1123G>A p.E375K Missense 8/18 - 2
7-140494126-T-A c.1122A>T p.I374= Synonymous 8/18 - 1
7-140494126-T-G c.1122A>C p.I374= Synonymous 8/18 - 1
7-140494128-T-C c.1120A>G p.I374V Missense 8/18 - 2
7-140494131-T-A c.1117A>T p.T373S Missense 8/18 - 3
7-140494131-T-C c.1117A>G p.T373A Missense 8/18 - 1
7-140494132-G-C c.1116C>G p.N372K Missense 8/18 - 1
7-140494132-G-T c.1116C>A p.N372K Missense 8/18 - 1
7-140494135-T-A c.1113A>T p.I371= Synonymous 8/18 - 1
7-140494135-T-G c.1113A>C p.I371= Synonymous 8/18 - 1
7-140494137-T-A c.1111A>T p.I371L Missense 8/18 - 1
7-140494140-G-A c.1108C>T p.H370Y Missense 8/18 - 2
7-140494140-G-GTACGTTAGGTGCGCTGCTGCTCCTGTCCCTTTGACCAAATTGGTTCCTATGGTCCTCGTCTGCCCACTCAAGCTC c.1107_1108insGAGCTTGAGTGGGCAGACGAGGACCATAGGAACCAATTTGGTCAAAGGGACAGGAGCAGCAGCGCACCTAACGTA p.V369_H370insELEWADEDHRNQFGQRDRSSSAPNV InFrameInsertion 8/18 - 1
7-140494141-C-A c.1107G>T p.V369= Synonymous 8/18 - 2
7-140494141-C-G c.1107G>C p.V369= Synonymous 8/18 - 2
7-140494141-C-T c.1107G>A p.V369= Synonymous 8/18 - 2
7-140494142-A-G c.1106T>C p.V369A Missense 8/18 - 1
7-140494142-A-T c.1106T>A p.V369E Missense 8/18 - 1
7-140494143-C-A c.1105G>T p.V369L Missense 8/18 - 1
7-140494143-C-T c.1105G>A p.V369M Missense 8/18 - 1
7-140494145-T-C c.1103A>G p.N368S Missense 8/18 - 2
7-140494145-T-G c.1103A>C p.N368T Missense 8/18 - 1
7-140494146-T-A c.1102A>T p.N368Y Missense 8/18 - 1
7-140494147-G-A c.1101C>T p.P367= Synonymous 8/18 - 2
7-140494147-G-C c.1101C>G p.P367= Synonymous 8/18 - 1
7-140494147-G-T c.1101C>A p.P367= Synonymous 8/18 - 2
7-140494148-G-A c.1100C>T p.P367L Missense 8/18 - 8
7-140494148-G-C c.1100C>G p.P367R Missense 8/18 - 7
7-140494149-G-A c.1099C>T p.P367S Missense 8/18 - 21
7-140494149-G-T c.1099C>A p.P367T Missense 8/18 - 1
7-140494151-G-A c.1097C>T p.A366V Missense 8/18 - 1
7-140494151-G-C c.1097C>G p.A366G Missense 8/18 - 1
7-140494151-G-GC c.1096dup p.A366Gfs*15 Frameshift 8/18 - 1
7-140494152-C-A c.1096G>T p.A366S Missense 8/18 - 1
7-140494152-C-G c.1096G>C p.A366P Missense 8/18 - 2
7-140494152-C-T c.1096G>A p.A366T Missense 8/18 - 2
7-140494153-T-A c.1095A>T p.S365= Synonymous 8/18 - 1
7-140494153-T-C c.1095A>G p.S365= Synonymous 8/18 - 2
7-140494153-T-G c.1095A>C p.S365= Synonymous 8/18 - 1
7-140494154-G-A c.1094C>T p.S365L Missense 8/18 - 11
7-140494154-G-C c.1094C>G p.S365* Nonsense 8/18 - 2
7-140494154-G-T c.1094C>A p.S365* Nonsense 8/18 - 1
7-140494155-A-C c.1093T>G p.S365A Missense 8/18 - 15
7-140494155-A-G c.1093T>C p.S365P Missense 8/18 - 1
7-140494156-T-A c.1092A>T p.S364= Synonymous 8/18 - 1
7-140494156-TG-CC c.1091_1092delinsGG p.S364W Missense 8/18 - 1
7-140494157-G-A c.1091C>T p.S364L Missense 8/18 - 9
7-140494157-G-T c.1091C>A p.S364* Nonsense 8/18 - 1
7-140494158-A-G c.1090T>C p.S364P Missense 8/18 - 1
7-140494159-G-A c.1089C>T p.S363= Synonymous 8/18 - 5
7-140494159-G-C c.1089C>G p.S363= Synonymous 8/18 - 3
7-140494159-G-T c.1089C>A p.S363= Synonymous 8/18 - 4
7-140494160-G-A c.1088C>T p.S363F Missense 8/18 - 6
7-140494160-GA-TT c.1087_1088delinsAA p.S363N Missense 8/18 - 1
7-140494160-G-GA c.1087dup p.S363Ffs*18 Frameshift 8/18 - 1
7-140494161-A-G c.1087T>C p.S363P Missense 8/18 - 1
7-140494161-A-T c.1087T>A p.S363T Missense 8/18 - 1
7-140494163-C-A c.1085G>T p.R362L Missense 8/18 - 3
7-140494163-C-G c.1085G>C p.R362P Missense 8/18 - 2
7-140494163-C-T c.1085G>A p.R362Q Missense 8/18 - 14
7-140494162-T-A c.1086A>T p.R362= Synonymous 8/18 - 1
7-140494162-T-C c.1086A>G p.R362= Synonymous 8/18 - 1
7-140494162-T-G c.1086A>C p.R362= Synonymous 8/18 - 1
7-140494164-G-A c.1084C>T p.R362* Nonsense 8/18 - 7
7-140494164-G-T c.1084C>A p.R362= Synonymous 8/18 - 2
7-140494165-G-A c.1083C>T p.D361= Synonymous 8/18 - 1
7-140494166-T-A c.1082A>T p.D361V Missense 8/18 - 1
7-140494166-T-C c.1082A>G p.D361G Missense 8/18 - 3
7-140494167-C-A c.1081G>T p.D361Y Missense 8/18 - 1
7-140494167-C-T c.1081G>A p.D361N Missense 8/18 - 1
7-140494168-TC-AT c.1079_1080delinsAT p.R360H Missense 8/18 - 1
7-140494168-TCG-ACA c.1078_1080delinsTGT p.R360C Missense 8/18 - 2
7-140494168-TCG-CAT c.1078_1080delinsATG p.R360M Missense 8/18 - 1
7-140494168-TCG-CCA c.1078_1080delinsTGG p.R360W Missense 8/18 - 1
7-140494169-C-A c.1079G>T p.R360L Missense 8/18 - 1
7-140494169-C-G c.1079G>C p.R360P Missense 8/18 - 1
7-140494169-CG-AT c.1078_1079delinsAT p.R360I Missense 8/18 - 1
7-140494169-C-T c.1079G>A p.R360Q Missense 8/18 - 6
7-140494168-T-A c.1080A>T p.R360= Synonymous 8/18 - 2
7-140494168-T-C c.1080A>G p.R360= Synonymous 8/18 - 3
7-140494168-T-G c.1080A>C p.R360= Synonymous 8/18 - 2
7-140494170-G-A c.1078C>T p.R360* Nonsense 8/18 - 4
7-140494170-G-T c.1078C>A p.R360= Synonymous 8/18 - 2
7-140494173-G-A c.1075C>T p.Q359* Nonsense 8/18 - 3
7-140494174-C-A c.1074G>T p.G358= Synonymous 8/18 - 1
7-140494174-CCC-ACA c.1072_1074delinsTGT p.G358C Missense 8/18 - 1
7-140494174-C-G c.1074G>C p.G358= Synonymous 8/18 - 3
7-140494174-C-T c.1074G>A p.G358= Synonymous 8/18 - 1
7-140494175-C-A c.1073G>T p.G358V Missense 8/18 - 1
7-140494175-C-G c.1073G>C p.G358A Missense 8/18 - 1
7-140494175-C-T c.1073G>A p.G358E Missense 8/18 - 2
7-140494176-C-A c.1072G>T p.G358W Missense 8/18 - 1
7-140494177-CAAA-C c.1069_1071del p.F357del InFrameDeletion 8/18 - 1
7-140494178-A-C c.1070T>G p.F357C Missense 8/18 - 1
7-140494178-A-G c.1070T>C p.F357S Missense 8/18 - 1
7-140494177-A-C c.1071T>G p.F357L Missense 8/18 - 1
7-140494177-A-T c.1071T>A p.F357L Missense 8/18 - 1
7-140494179-A-G c.1069T>C p.F357L Missense 8/18 - 1
7-140494181-T-C c.1067A>G p.Q356R Missense 8/18 - 1
7-140494181-T-G c.1067A>C p.Q356P Missense 8/18 - 1
7-140494182-G-A c.1066C>T p.Q356* Nonsense 8/18 - 1
7-140494182-G-C c.1066C>G p.Q356E Missense 8/18 - 2
7-140494182-G-T c.1066C>A p.Q356K Missense 8/18 - 3
7-140494184-T-A c.1064A>T p.N355I Missense 8/18 - 1
7-140494185-T-A c.1063A>T p.N355Y Missense 8/18 - 1
7-140494186-TCG-ACA c.1060_1062delinsTGT p.R354C Missense 8/18 - 1
7-140494187-C-A c.1061G>T p.R354L Missense 8/18 - 1
7-140494187-C-T c.1061G>A p.R354Q Missense 8/18 - 21
7-140494188-G-A c.1060C>T p.R354* Nonsense 8/18 - 10
7-140494188-G-GA c.1059dup p.R354Sfs*27 Frameshift 8/18 - 1
7-140494189-A-G c.1059T>C p.H353= Synonymous 8/18 - 1
7-140494190-T-C c.1058A>G p.H353R Missense 8/18 - 2
7-140494191-G-A c.1057C>T p.H353Y Missense 8/18 - 1
7-140494191-G-T c.1057C>A p.H353N Missense 8/18 - 2
7-140494192-GATC-G c.1054_1056del p.D352del InFrameDeletion 8/18 - 1
7-140494193-T-A c.1055A>T p.D352V Missense 8/18 - 1
7-140494193-T-C c.1055A>G p.D352G Missense 8/18 - 1
7-140494194-C-A c.1054G>T p.D352Y Missense 8/18 - 4
7-140494194-C-T c.1054G>A p.D352N Missense 8/18 - 2
7-140494195-T-C c.1053A>G p.E351= Synonymous 8/18 - 1
7-140494196-T-C c.1052A>G p.E351G Missense 8/18 - 1
7-140494197-C-A c.1051G>T p.E351* Nonsense 8/18 - 1
7-140494197-C-T c.1051G>A p.E351K Missense 8/18 - 2
7-140494198-A-C c.1050T>G p.D350E Missense 8/18 - 2
7-140494198-A-T c.1050T>A p.D350E Missense 8/18 - 2
7-140494199-T-C c.1049A>G p.D350G Missense 8/18 - 1
7-140494199-T-G c.1049A>C p.D350A Missense 8/18 - 2
7-140494200-C-A c.1048G>T p.D350Y Missense 8/18 - 2
7-140494200-C-G c.1048G>C p.D350H Missense 8/18 - 2
7-140494200-C-T c.1048G>A p.D350N Missense 8/18 - 1
7-140494201-T-C c.1047A>G p.A349= Synonymous 8/18 - 1
7-140494202-G-A c.1046C>T p.A349V Missense 8/18 - 2
7-140494202-G-C c.1046C>G p.A349G Missense 8/18 - 1
7-140494203-C-A c.1045G>T p.A349S Missense 8/18 - 2
7-140494203-C-G c.1045G>C p.A349P Missense 8/18 - 1
7-140494203-C-T c.1045G>A p.A349T Missense 8/18 - 3
7-140494204-T-A c.1044A>T p.P348= Synonymous 8/18 - 1
7-140494204-TGG-AAA c.1042_1044delinsTTT p.P348F Missense 8/18 - 1
7-140494205-G-T c.1043C>A p.P348Q Missense 8/18 - 1
7-140494206-G-T c.1042C>A p.P348T Missense 8/18 - 9
7-140494207-T-C c.1041A>G p.R347= Synonymous 8/18 - 3
7-140494207-TC-AT c.1040_1041delinsAT p.R347H Missense 8/18 - 6
7-140494207-TCG-ACA c.1039_1041delinsTGT p.R347C Missense 8/18 - 6
7-140494207-T-G c.1041A>C p.R347= Synonymous 8/18 - 2
7-140494208-C-A c.1040G>T p.R347L Missense 8/18 - 7
7-140494208-C-G c.1040G>C p.R347P Missense 8/18 - 2
7-140494208-C-T c.1040G>A p.R347Q Missense 8/18 - 14
7-140494207-T-A c.1041A>T p.R347= Synonymous 8/18 - 1
7-140494209-G-A c.1039C>T p.R347* Nonsense 8/18 - 16
7-140494209-G-T c.1039C>A p.R347= Synonymous 8/18 - 1
7-140494210-G-A c.1038C>T p.F346= Synonymous 8/18 - 1
7-140494211-A-T c.1037T>A p.F346Y Missense 8/18 - 1
7-140494210-G-C c.1038C>G p.F346L Missense 8/18 - 3
7-140494210-G-T c.1038C>A p.F346L Missense 8/18 - 4
7-140494212-A-C c.1036T>G p.F346V Missense 8/18 - 1
7-140494212-A-G c.1036T>C p.F346L Missense 8/18 - 5
7-140494212-A-T c.1036T>A p.F346I Missense 8/18 - 1
7-140494213-G-A c.1035C>T p.P345= Synonymous 8/18 - 5
7-140494213-G-C c.1035C>G p.P345= Synonymous 8/18 - 2
7-140494213-G-T c.1035C>A p.P345= Synonymous 8/18 - 2
7-140494214-G-A c.1034C>T p.P345L Missense 8/18 - 1
7-140494214-GG-TA c.1033_1034delinsTA p.P345Y Missense 8/18 - 1
7-140494214-G-T c.1034C>A p.P345H Missense 8/18 - 3
7-140494212-AG-A c.1035del p.F346Sfs*26 Frameshift 8/18 - 1
7-140494215-G-A c.1033C>T p.P345S Missense 8/18 - 2
7-140494215-G-T c.1033C>A p.P345T Missense 8/18 - 1
7-140494216-C-A c.1032G>T p.Q344H Missense 8/18 - 2
7-140494216-C-G c.1032G>C p.Q344H Missense 8/18 - 1
7-140494216-C-T c.1032G>A p.Q344= Synonymous 8/18 - 1
7-140494217-T-A c.1031A>T p.Q344L Missense 8/18 - 2
7-140494217-T-C c.1031A>G p.Q344R Missense 8/18 - 1
7-140494218-G-A c.1030C>T p.Q344* Nonsense 8/18 - 2
7-140494219-T-C c.1029A>G p.P343= Synonymous 8/18 - 1
7-140494220-G-A c.1028C>T p.P343L Missense 8/18 - 3
7-140494220-G-T c.1028C>A p.P343Q Missense 8/18 - 1
7-140494219-TG-T c.1028del p.P343Hfs*29 Frameshift 8/18 - 1
7-140494221-G-A c.1027C>T p.P343S Missense 8/18 - 4
7-140494221-G-T c.1027C>A p.P343T Missense 8/18 - 2
7-140494222-A-G c.1026T>C p.I342= Synonymous 8/18 - 1
7-140494222-A-T c.1026T>A p.I342= Synonymous 8/18 - 1
7-140494224-T-C c.1024A>G p.I342V Missense 8/18 - 3
7-140494225-T-A c.1023A>T p.P341= Synonymous 8/18 - 3
7-140494225-T-C c.1023A>G p.P341= Synonymous 8/18 - 3
7-140494225-T-G c.1023A>C p.P341= Synonymous 8/18 - 2
7-140494226-G-A c.1022C>T p.P341L Missense 8/18 - 1
7-140494226-G-T c.1022C>A p.P341Q Missense 8/18 - 1
7-140494227-G-A c.1021C>T p.P341S Missense 8/18 - 1
7-140494227-G-C c.1021C>G p.P341A Missense 8/18 - 1
7-140494229-A-G c.1019T>C p.I340T Missense 8/18 - 1
7-140494230-T-A c.1018A>T p.I340F Missense 8/18 - 2
7-140494231-G-A c.1017C>T p.S339= Synonymous 8/18 - 1
7-140494231-G-C c.1017C>G p.S339= Synonymous 8/18 - 1
7-140494231-G-T c.1017C>A p.S339= Synonymous 8/18 - 2
7-140494230-TG-T c.1017del p.I340Ffs*32 Frameshift 8/18 - 1
7-140494232-G-A c.1016C>T p.S339F Missense 8/18 - 2
7-140494232-G-C c.1016C>G p.S339C Missense 8/18 - 2
7-140494234-T-A c.1014A>T p.K338N Missense 8/18 - 1
7-140494234-T-G c.1014A>C p.K338N Missense 8/18 - 2
7-140494236-T-C c.1012A>G p.K338E Missense 8/18 - 2
7-140494237-T-A c.1011A>T p.S337= Synonymous 8/18 - 1
7-140494237-T-C c.1011A>G p.S337= Synonymous 8/18 - 1
7-140494237-T-G c.1011A>C p.S337= Synonymous 8/18 - 1
7-140494237-TG-AC c.1010_1011delinsGT p.S337C Missense 8/18 - 1
7-140494238-G-A c.1010C>T p.S337L Missense 8/18 - 4
7-140494238-G-C c.1010C>G p.S337* Nonsense 8/18 - 1
7-140494238-G-T c.1010C>A p.S337* Nonsense 8/18 - 2
7-140494239-A-G c.1009T>C p.S337P Missense 8/18 - 3
7-140494239-A-T c.1009T>A p.S337T Missense 8/18 - 1
7-140494240-A-G c.1008T>C p.P336= Synonymous 8/18 - 1
7-140494240-AG-TT c.1007_1008delinsAA p.P336Q Missense 8/18 - 1
7-140494241-G-A c.1007C>T p.P336L Missense 8/18 - 5
7-140494241-G-T c.1007C>A p.P336H Missense 8/18 - 1
7-140494242-G-A c.1006C>T p.P336S Missense 8/18 - 2
7-140494244-G-A c.1004C>T p.S335F Missense 8/18 - 1
7-140494244-G-C c.1004C>G p.S335C Missense 8/18 - 1
7-140494244-G-T c.1004C>A p.S335Y Missense 8/18 - 1
7-140494245-A-C c.1003T>G p.S335A Missense 8/18 - 1
7-140494246-C-A c.1002G>T p.P334= Synonymous 8/18 - 1
7-140494246-C-T c.1002G>A p.P334= Synonymous 8/18 - 2
7-140494247-G-A c.1001C>T p.P334L Missense 8/18 - 7
7-140494247-G-C c.1001C>G p.P334R Missense 8/18 - 1
7-140494247-G-T c.1001C>A p.P334Q Missense 8/18 - 1
7-140494248-G-A c.1000C>T p.P334S Missense 8/18 - 3
7-140494249-A-G c.999T>C p.S333= Synonymous 8/18 - 1
7-140494250-C-A c.998G>T p.S333I Missense 8/18 - 1
7-140494250-CT-AA c.997_998delinsTT p.S333F Missense 8/18 - 2
7-140494250-CT-TA c.997_998delinsTA p.S333Y Missense 8/18 - 1
7-140494252-G-A c.996C>T p.T332= Synonymous 8/18 - 1
7-140494252-G-T c.996C>A p.T332= Synonymous 8/18 - 1
7-140494253-G-A c.995C>T p.T332I Missense 8/18 - 5
7-140494254-T-A c.994A>T p.T332S Missense 8/18 - 2
7-140494254-T-C c.994A>G p.T332A Missense 8/18 - 1
7-140494255-G-A c.993C>T p.L331= Synonymous 8/18 - 3