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
7-140731101-C-G c.*3496G>C - IntergenicSNV 18/18 - 1
7-140731117-G-C c.*3480C>G - IntergenicSNV 18/18 - 1
7-140731894-G-A c.*2703C>T - IntergenicSNV 18/18 - 1
7-140732393-C-T c.*2204G>A - IntergenicSNV 18/18 - 1
7-140733093-T-C c.*1504A>G - IntergenicSNV 18/18 - 2
7-140733969-C-T c.*628G>A - IntergenicSNV 18/18 - 1
7-140734210-C-T c.*387G>A - 3-UTRSNV 18/18 - 1
7-140734381-A-G c.*216T>C - 3-UTRSNV 18/18 - 1
7-140734382-T-A c.*215A>T - 3-UTRSNV 18/18 - 1
7-140734540-T-A c.*57A>T - 3-UTRSNV 18/18 - 1
7-140734571-C-A c.*26G>T - 3-UTRSNV 18/18 - 1
7-140734571-C-T c.*26G>A - 3-UTRSNV 18/18 - 1
7-140734598-C-A c.2300G>T p.*767Lext*3 Missense 18/18 - 1
7-140734598-C-T c.2300G>A p.*767= Synonymous 18/18 - 1
7-140734599-A-C c.2299T>G p.*767Gext*3 Missense 18/18 - 1
7-140734601-TG-T c.2296del p.H766Tfs*6 Frameshift 18/18 - 1
7-140734603-G-A c.2295C>T p.V765= Synonymous 18/18 - 2
7-140734604-A-C c.2294T>G p.V765G Missense 18/18 - 1
7-140734605-C-A c.2293G>T p.V765F Missense 18/18 - 1
7-140734605-C-G c.2293G>C p.V765L Missense 18/18 - 1
7-140734605-C-T c.2293G>A p.V765I Missense 18/18 - 3
7-140734607-G-A c.2291C>T p.P764L Missense 18/18 - 1
7-140734607-G-T c.2291C>A p.P764H Missense 18/18 - 1
7-140734608-G-A c.2290C>T p.P764S Missense 18/18 - 3
7-140734608-G-T c.2290C>A p.P764T Missense 18/18 - 1
7-140734612-C-A c.2286G>T p.A762= Synonymous 18/18 - 2
7-140734612-C-G c.2286G>C p.A762= Synonymous 18/18 - 1
7-140734612-C-T c.2286G>A p.A762= Synonymous 18/18 - 2
7-140734613-G-A c.2285C>T p.A762V Missense 18/18 - 21
7-140734613-G-T c.2285C>A p.A762E Missense 18/18 - 18
7-140734614-C-A c.2284G>T p.A762S Missense 18/18 - 3
7-140734614-C-G c.2284G>C p.A762P Missense 18/18 - 1
7-140734614-C-T c.2284G>A p.A762T Missense 18/18 - 2
7-140734616-C-A c.2282G>T p.G761V Missense 18/18 - 2
7-140734616-C-T c.2282G>A p.G761D Missense 18/18 - 4
7-140734617-C-A c.2281G>T p.G761C Missense 18/18 - 1
7-140734617-C-T c.2281G>A p.G761S Missense 18/18 - 3
7-140734618-A-AT c.2279dup p.Y760* Nonsense 18/18 - 1
7-140734619-T-C c.2279A>G p.Y760C Missense 18/18 - 1
7-140734621-T-C c.2277A>G p.G759= Synonymous 18/18 - 1
7-140734620-ATCCCCCTGCCTGGATGGGTGTTTT-A c.2254_2277del p.K752_G759del InFrameDeletion 18/18 - 1
7-140734622-C-A c.2276G>T p.G759V Missense 18/18 - 1
7-140734622-C-G c.2276G>C p.G759A Missense 18/18 - 1
7-140734622-C-T c.2276G>A p.G759E Missense 18/18 - 3
7-140734623-C-A c.2275G>T p.G759* Nonsense 18/18 - 1
7-140734623-C-G c.2275G>C p.G759R Missense 18/18 - 1
7-140734623-C-T c.2275G>A p.G759R Missense 18/18 - 3
7-140734624-C-A c.2274G>T p.G758= Synonymous 18/18 - 1
7-140734625-C-A c.2273G>T p.G758V Missense 18/18 - 1
7-140734625-C-T c.2273G>A p.G758E Missense 18/18 - 4
7-140734626-C-A c.2272G>T p.G758W Missense 18/18 - 1
7-140734626-C-T c.2272G>A p.G758R Missense 18/18 - 1
7-140734628-G-A c.2270C>T p.A757V Missense 18/18 - 1
7-140734629-C-A c.2269G>T p.A757S Missense 18/18 - 3
7-140734629-C-T c.2269G>A p.A757T Missense 18/18 - 1
7-140734630-C-A c.2268G>T p.Q756H Missense 18/18 - 1
7-140734631-T-C c.2267A>G p.Q756R Missense 18/18 - 2
7-140734632-G-C c.2266C>G p.Q756E Missense 18/18 - 1
7-140734632-G-T c.2266C>A p.Q756K Missense 18/18 - 1
7-140734633-G-A c.2265C>T p.I755= Synonymous 18/18 - 1
7-140734633-G-C c.2265C>G p.I755M Missense 18/18 - 1
7-140734633-G-T c.2265C>A p.I755= Synonymous 18/18 - 1
7-140734634-A-G c.2264T>C p.I755T Missense 18/18 - 1
7-140734635-T-C c.2263A>G p.I755V Missense 18/18 - 1
7-140734635-T-TGATGCTGAGATGCC c.2262_2263insGGCATCTCAGCATC p.I755Gfs*22 Frameshift 18/18 - 1
7-140734636-G-A c.2262C>T p.P754= Synonymous 18/18 - 1
7-140734636-G-C c.2262C>G p.P754= Synonymous 18/18 - 1
7-140734636-G-T c.2262C>A p.P754= Synonymous 18/18 - 1
7-140734636-TGGGTGTTTTTGGAGAAGCACAAGC-T c.2239_2262del p.A747_P754del InFrameDeletion 18/18 - 1
7-140734637-G-A c.2261C>T p.P754L Missense 18/18 - 1
7-140734637-G-T c.2261C>A p.P754H Missense 18/18 - 1
7-140734638-G-A c.2260C>T p.P754S Missense 18/18 - 4
7-140734638-G-T c.2260C>A p.P754T Missense 18/18 - 1
7-140734637-GGTGTTTTT-G c.2253_2260del p.K752Hfs*40 Frameshift 18/18 - 1
7-140734639-T-A c.2259A>T p.T753= Synonymous 18/18 - 1
7-140734639-T-C c.2259A>G p.T753= Synonymous 18/18 - 1
7-140734639-T-G c.2259A>C p.T753= Synonymous 18/18 - 1
7-140734640-G-A c.2258C>T p.T753I Missense 18/18 - 1
7-140734640-G-C c.2258C>G p.T753R Missense 18/18 - 1
7-140734640-TG-T c.2258del p.T753Nfs*19 Frameshift 18/18 - 1
7-140734642-T-A c.2256A>T p.K752N Missense 18/18 - 1
7-140734642-T-C c.2256A>G p.K752= Synonymous 18/18 - 1
7-140734643-T-C c.2255A>G p.K752R Missense 18/18 - 1
7-140734644-TTTGGAGAAGCACAAG-T c.2240_2254del p.A747_K752delinsE MultiAAMissense 18/18 - 1
7-140734645-T-G c.2253A>C p.P751= Synonymous 18/18 - 1
7-140734645-TGGAGAAGCACAAGCAT-AGCA c.2237_2253delinsTGCT p.Y746Lfs*22 Frameshift 18/18 - 1
7-140734646-G-T c.2252C>A p.P751Q Missense 18/18 - 1
7-140734645-TGGAGAAGCACAA-T c.2241_2252del p.C748_P751del InFrameDeletion 18/18 - 1
7-140734645-TGGA-T c.2250_2252del p.P751del InFrameDeletion 18/18 - 1
7-140734647-G-A c.2251C>T p.P751S Missense 18/18 - 1
7-140734647-G-C c.2251C>G p.P751A Missense 18/18 - 8
7-140734647-GGAGAAGC-G c.2245_2251del p.A749Qfs*21 Frameshift 18/18 - 1
7-140734647-G-T c.2251C>A p.P751T Missense 18/18 - 1
7-140734648-A-G c.2250T>C p.S750= Synonymous 18/18 - 1
7-140734648-GA-G c.2250del p.P751Qfs*21 Frameshift 18/18 - 1
7-140734649-AGAAGCACAAGCATAT-A c.2235_2249del p.Y746_S750del InFrameDeletion 18/18 - 2
7-140734649-G-A c.2249C>T p.S750F Missense 18/18 - 2
7-140734649-G-T c.2249C>A p.S750Y Missense 18/18 - 2
7-140734650-A-G c.2248T>C p.S750P Missense 18/18 - 1
7-140734649-GAAGCACAAGC-G c.2239_2248del p.A747Lfs*22 Frameshift 18/18 - 1
7-140734651-A-C c.2247T>G p.A749= Synonymous 18/18 - 1
7-140734651-A-G c.2247T>C p.A749= Synonymous 18/18 - 1
7-140734651-A-T c.2247T>A p.A749= Synonymous 18/18 - 1
7-140734652-G-A c.2246C>T p.A749V Missense 18/18 - 1
7-140734652-G-T c.2246C>A p.A749D Missense 18/18 - 2
7-140734653-C-A c.2245G>T p.A749S Missense 18/18 - 1
7-140734653-C-T c.2245G>A p.A749T Missense 18/18 - 3
7-140734649-GAAGCAC-G c.2243_2248del p.C748_A749del InFrameDeletion 18/18 - 1
7-140734655-C-A c.2243G>T p.C748F Missense 18/18 - 1
7-140734656-A-G c.2242T>C p.C748R Missense 18/18 - 1
7-140734656-A-T c.2242T>A p.C748S Missense 18/18 - 1
7-140734658-G-A c.2240C>T p.A747V Missense 18/18 - 4
7-140734658-G-T c.2240C>A p.A747D Missense 18/18 - 1
7-140734659-C-A c.2239G>T p.A747S Missense 18/18 - 2
7-140734660-A-T c.2238T>A p.Y746* Nonsense 18/18 - 1
7-140734661-ATATAGACT-A c.2230_2237del p.S744Cfs*48 Frameshift 18/18 - 1
7-140734661-T-A c.2237A>T p.Y746F Missense 18/18 - 1
7-140734661-T-C c.2237A>G p.Y746C Missense 18/18 - 1
7-140734662-A-G c.2236T>C p.Y746H Missense 18/18 - 1
7-140734663-T-A c.2235A>T p.L745= Synonymous 18/18 - 3
7-140734663-T-C c.2235A>G p.L745= Synonymous 18/18 - 6
7-140734663-T-G c.2235A>C p.L745= Synonymous 18/18 - 1
7-140734664-A-T c.2234T>A p.L745Q Missense 18/18 - 1
7-140734665-G-A c.2233C>T p.L745= Synonymous 18/18 - 2
7-140734665-G-C c.2233C>G p.L745V Missense 18/18 - 1
7-140734665-G-T c.2233C>A p.L745I Missense 18/18 - 1
7-140734666-ACT-TCA c.2230_2232delinsTGA p.S744* Nonsense 18/18 - 1
7-140734666-A-G c.2232T>C p.S744= Synonymous 18/18 - 1
7-140734667-C-A c.2231G>T p.S744I Missense 18/18 - 2
7-140734667-C-G c.2231G>C p.S744T Missense 18/18 - 1
7-140734667-C-T c.2231G>A p.S744N Missense 18/18 - 2
7-140734668-T-A c.2230A>T p.S744C Missense 18/18 - 1
7-140734668-T-C c.2230A>G p.S744G Missense 18/18 - 1
7-140734669-A-C c.2229T>G p.F743L Missense 18/18 - 1
7-140734669-A-T c.2229T>A p.F743L Missense 18/18 - 1
7-140734671-A-G c.2227T>C p.F743L Missense 18/18 - 1
7-140734673-T-C c.2225A>G p.D742G Missense 18/18 - 1
7-140734674-C-A c.2224G>T p.D742Y Missense 18/18 - 1
7-140734674-C-T c.2224G>A p.D742N Missense 18/18 - 1
7-140734675-C-A c.2223G>T p.E741D Missense 18/18 - 3
7-140734675-C-G c.2223G>C p.E741D Missense 18/18 - 3
7-140734675-C-T c.2223G>A p.E741= Synonymous 18/18 - 3
7-140734677-C-A c.2221G>T p.E741* Nonsense 18/18 - 1
7-140734677-C-G c.2221G>C p.E741Q Missense 18/18 - 1
7-140734677-C-T c.2221G>A p.E741K Missense 18/18 - 2
7-140734679-G-A c.2219C>T p.T740I Missense 18/18 - 1
7-140734680-T-C c.2218A>G p.T740A Missense 18/18 - 1
7-140734683-G-A c.2215C>T p.Q739* Nonsense 18/18 - 3
7-140734683-G-T c.2215C>A p.Q739K Missense 18/18 - 1
7-140734684-G-T c.2214C>A p.F738L Missense 18/18 - 1
7-140734688-C-A c.2210G>T p.G737V Missense 18/18 - 1
7-140734688-C-T c.2210G>A p.G737D Missense 18/18 - 1
7-140734689-C-A c.2209G>T p.G737C Missense 18/18 - 1
7-140734689-C-G c.2209G>C p.G737R Missense 18/18 - 1
7-140734690-A-C c.2208T>G p.A736= Synonymous 18/18 - 1
7-140734690-A-G c.2208T>C p.A736= Synonymous 18/18 - 1
7-140734690-AG-CT c.2207_2208inv p.A736E Missense 18/18 - 1
7-140734690-A-T c.2208T>A p.A736= Synonymous 18/18 - 1
7-140734692-C-A c.2206G>T p.A736S Missense 18/18 - 2
7-140734692-C-T c.2206G>A p.A736T Missense 18/18 - 2
7-140734693-C-A c.2205G>T p.R735= Synonymous 18/18 - 1
7-140734694-C-A c.2204G>T p.R735L Missense 18/18 - 2
7-140734694-C-T c.2204G>A p.R735Q Missense 18/18 - 4
7-140734695-G-A c.2203C>T p.R735W Missense 18/18 - 5
7-140734695-G-C c.2203C>G p.R735G Missense 18/18 - 1
7-140734697-T-C c.2201A>G p.N734S Missense 18/18 - 1
7-140734699-C-A c.2199G>T p.L733F Missense 18/18 - 5
7-140734699-C-G c.2199G>C p.L733F Missense 18/18 - 6
7-140734700-A-G c.2198T>C p.L733S Missense 18/18 - 2
7-140734700-A-T c.2198T>A p.L733* Nonsense 18/18 - 1
7-140734700-CAAG-C c.2196_2198del p.L733del InFrameDeletion 18/18 - 1
7-140734699-C-T c.2199G>A p.L733= Synonymous 18/18 - 2
7-140734701-A-G c.2197T>C p.L733= Synonymous 18/18 - 1
7-140734702-G-A c.2196C>T p.S732= Synonymous 18/18 - 2
7-140734702-G-C c.2196C>G p.S732= Synonymous 18/18 - 2
7-140734702-G-T c.2196C>A p.S732= Synonymous 18/18 - 1
7-140734703-G-A c.2195C>T p.S732F Missense 18/18 - 7
7-140734702-GGA-G c.2194_2195del p.S732Lfs*12 Frameshift 18/18 - 1
7-140734705-G-A c.2193C>T p.P731= Synonymous 18/18 - 5
7-140734705-G-C c.2193C>G p.P731= Synonymous 18/18 - 1
7-140734705-G-T c.2193C>A p.P731= Synonymous 18/18 - 2
7-140734706-G-A c.2192C>T p.P731L Missense 18/18 - 3
7-140734706-G-T c.2192C>A p.P731H Missense 18/18 - 1
7-140734707-G-A c.2191C>T p.P731S Missense 18/18 - 20
7-140734707-G-C c.2191C>G p.P731A Missense 18/18 - 1
7-140734707-G-T c.2191C>A p.P731T Missense 18/18 - 2
7-140734710-C-A c.2188G>T p.E730* Nonsense 18/18 - 1
7-140734710-C-T c.2188G>A p.E730K Missense 18/18 - 2
7-140734711-T-A c.2187A>T p.S729= Synonymous 18/18 - 2
7-140734711-T-C c.2187A>G p.S729= Synonymous 18/18 - 3
7-140734711-T-G c.2187A>C p.S729= Synonymous 18/18 - 1
7-140734711-TGA-GTC c.2185_2187delinsGAC p.S729D Missense 18/18 - 1
7-140734712-G-A c.2186C>T p.S729L Missense 18/18 - 1
7-140734712-G-C c.2186C>G p.S729* Nonsense 18/18 - 1
7-140734712-G-T c.2186C>A p.S729* Nonsense 18/18 - 1
7-140734713-A-C c.2185T>G p.S729A Missense 18/18 - 11
7-140734713-A-G c.2185T>C p.S729P Missense 18/18 - 1
7-140734715-G-A c.2183C>T p.A728V Missense 18/18 - 7
7-140734716-C-A c.2182G>T p.A728S Missense 18/18 - 2
7-140734716-C-G c.2182G>C p.A728P Missense 18/18 - 1
7-140734716-C-T c.2182G>A p.A728T Missense 18/18 - 1
7-140734717-A-G c.2181T>C p.S727= Synonymous 18/18 - 1
7-140734718-C-A c.2180G>T p.S727I Missense 18/18 - 2
7-140734718-C-G c.2180G>C p.S727T Missense 18/18 - 2
7-140734719-T-C c.2179A>G p.S727G Missense 18/18 - 2
7-140734720-G-C c.2178C>G p.R726= Synonymous 18/18 - 1
7-140734720-GCG-CCA c.2176_2178delinsTGG p.R726W Missense 18/18 - 2
7-140734720-GCG-CTT c.2176_2178delinsAAG p.R726K Missense 18/18 - 1
7-140734720-GCG-TCA c.2176_2178delinsTGA p.R726* Nonsense 18/18 - 1
7-140734720-GC-TT c.2177_2178delinsAA p.R726Q Missense 18/18 - 1
7-140734721-C-A c.2177G>T p.R726L Missense 18/18 - 2
7-140734721-C-T c.2177G>A p.R726H Missense 18/18 - 8
7-140734722-G-A c.2176C>T p.R726C Missense 18/18 - 11
7-140734722-G-T c.2176C>A p.R726S Missense 18/18 - 1
7-140734723-G-A c.2175C>T p.H725= Synonymous 18/18 - 4
7-140734725-G-A c.2173C>T p.H725Y Missense 18/18 - 15
7-140734725-G-T c.2173C>A p.H725N Missense 18/18 - 1
7-140734726-A-C c.2172T>G p.I724M Missense 18/18 - 1
7-140734727-A-C c.2171T>G p.I724S Missense 18/18 - 1
7-140734727-A-T c.2171T>A p.I724N Missense 18/18 - 1
7-140734730-T-A c.2168A>T p.K723I Missense 18/18 - 1
7-140734730-TT-CC c.2167_2168delinsGG p.K723G Missense 18/18 - 8
7-140734731-T-C c.2167A>G p.K723E Missense 18/18 - 2
7-140734727-AT-A c.2170del p.I724Ffs*10 UnclassifiedDeletion 18/18 - 1
7-140734733-G-A c.2165C>T p.P722L Missense 18/18 - 2
7-140734733-G-T c.2165C>A p.P722Q Missense 18/18 - 3
7-140734732-TG-T c.2165del p.P722Qfs*12 Frameshift 18/18 - 1
7-140734734-G-A c.2164C>T p.P722S Missense 18/18 - 9
7-140734734-G-T c.2164C>A p.P722T Missense 18/18 - 2
7-140734735-C-A c.2163G>T p.L721F Missense 18/18 - 2
7-140734735-C-G c.2163G>C p.L721F Missense 18/18 - 1
7-140734735-C-T c.2163G>A p.L721= Synonymous 18/18 - 1
7-140734737-A-G c.2161T>C p.L721= Synonymous 18/18 - 1
7-140734738-T-A c.2160A>T p.S720= Synonymous 18/18 - 2
7-140734738-T-C c.2160A>G p.S720= Synonymous 18/18 - 4
7-140734738-T-G c.2160A>C p.S720= Synonymous 18/18 - 2
7-140734738-TGA-GTT c.2158_2160delinsAAC p.S720N Missense 18/18 - 1
7-140734739-G-A c.2159C>T p.S720L Missense 18/18 - 2
7-140734739-GA-TC c.2158_2159inv p.S720E Missense 18/18 - 7
7-140734739-G-T c.2159C>A p.S720* Nonsense 18/18 - 1
7-140734741-GCG-CCA c.2155_2157delinsTGG p.R719W Missense 18/18 - 1
7-140734742-C-A c.2156G>T p.R719L Missense 18/18 - 3
7-140734742-C-CTGCT c.2155_2156insAGCA p.R719Qfs*27 Frameshift 18/18 - 1
7-140734742-C-G c.2156G>C p.R719P Missense 18/18 - 5
7-140734742-CG-GT c.2155_2156delinsAC p.R719T Missense 18/18 - 1
7-140734742-C-T c.2156G>A p.R719H Missense 18/18 - 7
7-140734743-G-A c.2155C>T p.R719C Missense 18/18 - 5
7-140734743-G-T c.2155C>A p.R719S Missense 18/18 - 2
7-140734744-G-GCCCGCTCATT c.2153_2154insAATGAGCGGG p.R719Mfs*29 Frameshift 18/18 - 1
7-140734745-G-A c.2153C>T p.A718V Missense 18/18 - 2
7-140734746-C-A c.2152G>T p.A718S Missense 18/18 - 4
7-140734746-C-G c.2152G>C p.A718P Missense 18/18 - 1
7-140734746-C-T c.2152G>A p.A718T Missense 18/18 - 1
7-140734747-C-A c.2151G>T p.L717= Synonymous 18/18 - 1
7-140734749-G-A c.2149C>T p.L717= Synonymous 18/18 - 1
7-140734748-A-G c.2150T>C p.L717P Missense 18/18 - 1
7-140734749-G-C c.2149C>G p.L717V UnclassifiedSNV 18/18 - 1
7-140734750-C-A c.2148G>T p.L716= Synonymous 18/18 - 1
7-140734750-C-T c.2148G>A p.L716= Synonymous 18/18 - 2
7-140734752-G-A c.2146C>T p.L716= Synonymous 18/18 - 1
7-140734751-AG-TC c.2146_2147delinsGA p.L716E Missense 18/18 - 8
7-140734753-C-A c.2145G>T p.E715D Missense 18/18 - 1
7-140734754-T-A c.2144A>T p.E715V Missense 18/18 - 1
7-140734754-T-C c.2144A>G p.E715G Missense 18/18 - 1
7-140734755-C-A c.2143G>T p.E715* Nonsense 18/18 - 5
7-140734755-C-G c.2143G>C p.E715Q Missense 18/18 - 1
7-140734755-C-T c.2143G>A p.E715K Missense 18/18 - 3
7-140734757-A-G c.2141T>C p.I714T Missense 18/18 - 1
7-140734757-A-T c.2141T>A p.I714N Missense 18/18 - 1
7-140734758-T-A c.2140A>T p.I714F Missense 18/18 - 1
7-140734758-T-C c.2140A>G p.I714V Missense 18/18 - 2
7-140734759-A-G c.2139T>C p.S713= Synonymous 18/18 - 2
7-140734759-AGA-CTC c.2137_2139delinsGAG p.S713E Missense 18/18 - 8
7-140734760-G-A c.2138C>T p.S713F Missense 18/18 - 2
7-140734760-G-T c.2138C>A p.S713Y Missense 18/18 - 2
7-140734761-A-G c.2137T>C p.S713P Missense 18/18 - 1
7-140734761-A-T c.2137T>A p.S713T Missense 18/18 - 1
7-140734763-G-A c.2135C>T p.A712V Missense 18/18 - 2
7-140734763-G-T c.2135C>A p.A712D Missense 18/18 - 3
7-140734764-C-A c.2134G>T p.A712S Missense 18/18 - 2
7-140734764-C-G c.2134G>C p.A712P Missense 18/18 - 1
7-140734764-C-T c.2134G>A p.A712T Missense 18/18 - 21
7-140734765-G-A c.2133C>T p.L711= Synonymous 18/18 - 2
7-140734765-G-C c.2133C>G p.L711= Synonymous 18/18 - 1
7-140734765-G-T c.2133C>A p.L711= Synonymous 18/18 - 1
7-140734766-A-G c.2132T>C p.L711P Missense 18/18 - 1
7-140734767-G-A c.2131C>T p.L711F Missense 18/18 - 4
7-140734767-G-T c.2131C>A p.L711I Missense 18/18 - 1
7-140734768-A-ACTCC c.2129_2130insGGAG p.I710Mfs*7 SpliceAcceptorInsertion 18/18 - 1
7-140734767-G-GA c.2130dup p.L711Sfs*5 SpliceAcceptorInsertion 18/18 - 1
7-140734769-A-C c.2129T>G p.I710S Missense 18/18 - 1
7-140734770-T-A c.2128A>T p.I710F Missense 18/18 - 2
7-140734772-T-TA c.2128-3dup - IntronicInsertion - 17/17 1
7-140734775-A-C c.2128-5T>G - IntronicSNV - 17/17 1
7-140734775-A-G c.2128-5T>C - IntronicSNV - 17/17 1
7-140734786-G-A c.2128-16C>T - IntronicSNV - 17/17 6
7-140734786-G-T c.2128-16C>A - IntronicSNV - 17/17 6
7-140734797-G-A c.2128-27C>T - IntronicSNV - 17/17 2
7-140734804-A-G c.2128-34T>C - IntronicSNV - 17/17 2
7-140734807-G-A c.2128-37C>T - IntronicSNV - 17/17 1
7-140734820-A-G c.2128-50T>C - IntronicSNV - 17/17 3
7-140735045-T-C c.2128-275A>G - IntronicSNV - 17/17 1
7-140735277-A-G c.2128-507T>C - IntronicSNV - 17/17 1
7-140735363-T-C c.2128-593A>G - IntronicSNV - 17/17 1
7-140736760-G-A c.2128-1990C>T - IntronicSNV - 17/17 1
7-140736964-C-T c.2128-2194G>A - IntronicSNV - 17/17 1
7-140737315-C-G c.2127+2497G>C - IntronicSNV - 17/17 1
7-140738523-T-C c.2127+1289A>G - IntronicSNV - 17/17 1
7-140738622-T-C c.2127+1190A>G - IntronicSNV - 17/17 1
7-140738969-A-G c.2127+843T>C - IntronicSNV - 17/17 1
7-140739699-C-T c.2127+113G>A - IntronicSNV - 17/17 1
7-140739796-T-C c.2127+16A>G - IntronicSNV - 17/17 1
7-140739803-T-C c.2127+9A>G - IntronicSNV - 17/17 1
7-140739808-T-A c.2127+4A>T - IntronicSNV - 17/17 1
7-140739809-T-C c.2127+3A>G - IntronicSNV - 17/17 2
7-140739811-C-A c.2127+1G>T - IntronicSNV - 17/17 1
7-140739812-T-A c.2127A>T p.Q709H Missense 17/18 - 1
7-140739812-T-G c.2127A>C p.Q709H Missense 17/18 - 1
7-140739813-T-C c.2126A>G p.Q709R Missense 17/18 - 19
7-140739814-G-A c.2125C>T p.Q709* Nonsense 17/18 - 1
7-140739814-G-T c.2125C>A p.Q709K Missense 17/18 - 3
7-140739815-G-A c.2124C>T p.P708= Synonymous 17/18 - 3
7-140739815-G-C c.2124C>G p.P708= Synonymous 17/18 - 1
7-140739815-G-T c.2124C>A p.P708= Synonymous 17/18 - 2
7-140739816-G-A c.2123C>T p.P708L Missense 17/18 - 2
7-140739816-G-T c.2123C>A p.P708H Missense 17/18 - 1
7-140739817-G-A c.2122C>T p.P708S Missense 17/18 - 5
7-140739817-G-C c.2122C>G p.P708A Missense 17/18 - 1
7-140739817-G-T c.2122C>A p.P708T Missense 17/18 - 1
7-140739818-A-C c.2121T>G p.F707L Missense 17/18 - 3
7-140739818-A-T c.2121T>A p.F707L Missense 17/18 - 3
7-140739820-A-G c.2119T>C p.F707L Missense 17/18 - 3
7-140739820-A-T c.2119T>A p.F707I Missense 17/18 - 1
7-140739822-AG-CT c.2116_2117inv p.L706S Missense 17/18 - 7
7-140739823-G-A c.2116C>T p.L706F Missense 17/18 - 1
7-140739824-T-C c.2115A>G p.P705= Synonymous 17/18 - 1
7-140739825-G-A c.2114C>T p.P705L Missense 17/18 - 1
7-140739825-G-C c.2114C>G p.P705R Missense 17/18 - 1
7-140739825-G-T c.2114C>A p.P705Q Missense 17/18 - 2
7-140739826-G-A c.2113C>T p.P705S Missense 17/18 - 1
7-140739826-G-C c.2113C>G p.P705A Missense 17/18 - 2
7-140739826-G-T c.2113C>A p.P705T Missense 17/18 - 1
7-140739827-T-C c.2112A>G p.R704= Synonymous 17/18 - 2
7-140739829-T-G c.2110A>C p.R704= Synonymous 17/18 - 1
7-140739828-C-A c.2111G>T p.R704I Missense 17/18 - 1
7-140739828-C-T c.2111G>A p.R704K Missense 17/18 - 1
7-140739828-CT-TG c.2110_2111delinsCA p.R704Q Missense 17/18 - 1
7-140739829-T-C c.2110A>G p.R704G Missense 17/18 - 1
7-140739830-C-A c.2109G>T p.E703D Missense 17/18 - 1
7-140739830-C-G c.2109G>C p.E703D Missense 17/18 - 1
7-140739831-T-C c.2108A>G p.E703G Missense 17/18 - 1
7-140739832-C-A c.2107G>T p.E703* Nonsense 17/18 - 3
7-140739832-C-T c.2107G>A p.E703K Missense 17/18 - 1
7-140739833-A-G c.2106T>C p.D702= Synonymous 17/18 - 3
7-140739833-A-T c.2106T>A p.D702E Missense 17/18 - 1
7-140739833-CA-C c.2106del p.D702Efs*32 Frameshift 17/18 - 1
7-140739834-T-G c.2105A>C p.D702A Missense 17/18 - 1
7-140739835-C-A c.2104G>T p.D702Y Missense 17/18 - 2
7-140739835-C-G c.2104G>C p.D702H Missense 17/18 - 1
7-140739836-T-C c.2103A>G p.R701= Synonymous 17/18 - 1
7-140739836-TCT-CCA c.2101_2103delinsTGG p.R701W Missense 17/18 - 1
7-140739837-C-G c.2102G>C p.R701T Missense 17/18 - 2
7-140739838-T-C c.2101A>G p.R701G Missense 17/18 - 1
7-140739837-CTTT-C c.2099_2101del p.K700del InFrameDeletion 17/18 - 1
7-140739840-T-C c.2099A>G p.K700R Missense 17/18 - 2
7-140739841-T-C c.2098A>G p.K700E Missense 17/18 - 6
7-140739842-C-T c.2097G>A p.K699= Synonymous 17/18 - 1
7-140739843-T-C c.2096A>G p.K699R Missense 17/18 - 1
7-140739843-T-G c.2096A>C p.K699T Missense 17/18 - 2
7-140739844-T-C c.2095A>G p.K699E Missense 17/18 - 1
7-140739846-T-C c.2093A>G p.K698R Missense 17/18 - 17
7-140739848-G-A c.2091C>T p.L697= Synonymous 17/18 - 2
7-140739848-G-T c.2091C>A p.L697= Synonymous 17/18 - 1
7-140739849-A-G c.2090T>C p.L697P Missense 17/18 - 2
7-140739849-A-T c.2090T>A p.L697H Missense 17/18 - 1
7-140739850-G-A c.2089C>T p.L697F Missense 17/18 - 1
7-140739850-G-T c.2089C>A p.L697I Missense 17/18 - 1
7-140739851-G-A c.2088C>T p.C696= Synonymous 17/18 - 1
7-140739851-G-T c.2088C>A p.C696* Nonsense 17/18 - 1
7-140739852-C-A c.2087G>T p.C696F Missense 17/18 - 1
7-140739854-C-A c.2085G>T p.E695D Missense 17/18 - 1
7-140739855-T-C c.2084A>G p.E695G Missense 17/18 - 1
7-140739856-C-A c.2083G>T p.E695* Nonsense 17/18 - 2
7-140739856-C-G c.2083G>C p.E695Q Missense 17/18 - 18
7-140739856-C-T c.2083G>A p.E695K Missense 17/18 - 20
7-140739857-T-A c.2082A>T p.A694= Synonymous 17/18 - 1
7-140739857-T-C c.2082A>G p.A694= Synonymous 17/18 - 1
7-140739857-T-G c.2082A>C p.A694= Synonymous 17/18 - 1
7-140739858-G-A c.2081C>T p.A694V Missense 17/18 - 3
7-140739859-C-A c.2080G>T p.A694S Missense 17/18 - 2
7-140739859-C-G c.2080G>C p.A694P Missense 17/18 - 1
7-140739859-C-T c.2080G>A p.A694T Missense 17/18 - 4
7-140739860-C-A c.2079G>T p.M693I Missense 17/18 - 2
7-140739860-C-G c.2079G>C p.M693I Missense 17/18 - 1
7-140739860-C-T c.2079G>A p.M693I Missense 17/18 - 1
7-140739861-A-T c.2078T>A p.M693K Missense 17/18 - 1
7-140739862-T-C c.2077A>G p.M693V Missense 17/18 - 3
7-140739863-T-C c.2076A>G p.L692= Synonymous 17/18 - 1
7-140739864-A-C c.2075T>G p.L692* Nonsense 17/18 - 1
7-140739864-A-G c.2075T>C p.L692S Missense 17/18 - 3
7-140739864-A-T c.2075T>A p.L692* Nonsense 17/18 - 1
7-140739866-TCT-ATG c.2071_2073delinsCAT p.R691H Missense 17/18 - 1
7-140739866-TCT-CCA c.2071_2073delinsTGG p.R691W Missense 17/18 - 1
7-140739867-C-A c.2072G>T p.R691I Missense 17/18 - 1
7-140739869-C-A c.2070G>T p.K690N Missense 17/18 - 1
7-140739869-C-G c.2070G>C p.K690N Missense 17/18 - 1
7-140739869-C-T c.2070G>A p.K690= Synonymous 17/18 - 1
7-140739867-CTCT-C c.2069_2071del p.K690del InFrameDeletion 17/18 - 1
7-140739870-T-C c.2069A>G p.K690R Missense 17/18 - 1
7-140739869-CTTCA-C c.2066_2069del p.M689Rfs*3 Frameshift 17/18 - 1
7-140739871-T-A c.2068A>T p.K690* Nonsense 17/18 - 1
7-140739871-T-C c.2068A>G p.K690E Missense 17/18 - 2
7-140739871-T-TA c.2067_2068insT p.K690* Nonsense 17/18 - 1
7-140739872-C-A c.2067G>T p.M689I Missense 17/18 - 8
7-140739872-C-G c.2067G>C p.M689I Missense 17/18 - 3
7-140739872-C-T c.2067G>A p.M689I Missense 17/18 - 4
7-140739874-T-C c.2065A>G p.M689V Missense 17/18 - 2
7-140739874-T-G c.2065A>C p.M689L Missense 17/18 - 1
7-140739875-G-T c.2064C>A p.A688= Synonymous 17/18 - 1
7-140739876-G-A c.2063C>T p.A688V Missense 17/18 - 3
7-140739876-GC-CG c.2062_2063delinsCG p.A688R Missense 17/18 - 8
7-140739876-G-T c.2063C>A p.A688D Missense 17/18 - 2
7-140739877-C-A c.2062G>T p.A688S Missense 17/18 - 2
7-140739878-T-C c.2061A>G p.K687= Synonymous 17/18 - 1
7-140739878-TTT-GTC c.2059_2061delinsGAC p.K687D Missense 17/18 - 1
7-140739879-T-A c.2060A>T p.K687I Missense 17/18 - 1
7-140739879-T-C c.2060A>G p.K687R Missense 17/18 - 2
7-140739879-T-G c.2060A>C p.K687T Missense 17/18 - 1
7-140739880-T-C c.2059A>G p.K687E Missense 17/18 - 8
7-140739877-CT-C c.2061del p.A688Pfs*2 Frameshift 17/18 - 1
7-140739882-G-A c.2057C>T p.P686L Missense 17/18 - 2
7-140739882-G-T c.2057C>A p.P686Q Missense 17/18 - 2
7-140739883-G-A c.2056C>T p.P686S Missense 17/18 - 1
7-140739883-G-T c.2056C>A p.P686T Missense 17/18 - 1
7-140739884-A-C c.2055T>G p.C685W Missense 17/18 - 1
7-140739884-A-G c.2055T>C p.C685= Synonymous 17/18 - 1
7-140739885-C-A c.2054G>T p.C685F Missense 17/18 - 1
7-140739885-C-T c.2054G>A p.C685Y Missense 17/18 - 1
7-140739885-C-G c.2054G>C p.C685S Missense 17/18 - 2
7-140739886-A-G c.2053T>C p.C685R Missense 17/18 - 1
7-140739886-A-T c.2053T>A p.C685S Missense 17/18 - 2
7-140739887-G-A c.2052C>T p.N684= Synonymous 17/18 - 1
7-140739888-T-C c.2051A>G p.N684S Missense 17/18 - 1
7-140739888-T-G c.2051A>C p.N684T Missense 17/18 - 2
7-140739889-T-C c.2050A>G p.N684D Missense 17/18 - 1
7-140739891-C-A c.2048G>T p.S683I Missense 17/18 - 1
7-140739891-C-T c.2048G>A p.S683N Missense 17/18 - 2
7-140739891-CT-GG c.2047_2048delinsCC p.S683P Missense 17/18 - 1
7-140739892-T-C c.2047A>G p.S683G Missense 17/18 - 3
7-140739893-CC-AT c.2045_2046delinsAT p.R682H Missense 17/18 - 2
7-140739893-CCG-ACA c.2044_2046delinsTGT p.R682C Missense 17/18 - 2
7-140739894-C-A c.2045G>T p.R682L Missense 17/18 - 2
7-140739894-C-G c.2045G>C p.R682P Missense 17/18 - 1
7-140739894-C-T c.2045G>A p.R682Q Missense 17/18 - 6
7-140739895-G-A c.2044C>T p.R682W Missense 17/18 - 14
7-140739898-C-A c.2041G>T p.V681L Missense 17/18 - 2
7-140739898-C-T c.2041G>A p.V681I Missense 17/18 - 2
7-140739899-C-A c.2040G>T p.K680N Missense 17/18 - 2
7-140739899-C-G c.2040G>C p.K680N Missense 17/18 - 1
7-140739899-C-T c.2040G>A p.K680= Synonymous 17/18 - 1
7-140739900-T-C c.2039A>G p.K680R Missense 17/18 - 1
7-140739903-C-A c.2036G>T p.S679I Missense 17/18 - 1
7-140739903-C-T c.2036G>A p.S679N Missense 17/18 - 3
7-140739904-T-C c.2035A>G p.S679G Missense 17/18 - 2
7-140739905-G-A c.2034C>T p.L678= Synonymous 17/18 - 1
7-140739905-GAG-CAT c.2032_2034delinsATG p.L678M Missense 17/18 - 1
7-140739905-G-C c.2034C>G p.L678= Synonymous 17/18 - 1
7-140739905-G-T c.2034C>A p.L678= Synonymous 17/18 - 2
7-140739906-A-G c.2033T>C p.L678P Missense 17/18 - 1
7-140739907-AG-A c.2032del p.L678Sfs*12 Frameshift 17/18 - 1
7-140739907-G-T c.2032C>A p.L678I Missense 17/18 - 6
7-140739909-T-A c.2030A>T p.D677V Missense 17/18 - 1
7-140739910-C-A c.2029G>T p.D677Y Missense 17/18 - 1
7-140739910-C-T c.2029G>A p.D677N Missense 17/18 - 1
7-140739912-G-A c.2027C>T p.P676L Missense 17/18 - 1
7-140739913-G-A c.2026C>T p.P676S Missense 17/18 - 3
7-140739913-G-C c.2026C>G p.P676A Missense 17/18 - 1
7-140739914-AGA-CTC c.2023_2025delinsGAG p.S675E Missense 17/18 - 1
7-140739915-G-A c.2024C>T p.S675F Missense 17/18 - 1
7-140739915-G-GTAT c.2023_2024insATA p.S675delinsYT MultiAAMissense 17/18 - 1
7-140739916-A-C c.2023T>G p.S675A Missense 17/18 - 2
7-140739917-C-A c.2022G>T p.L674= Synonymous 17/18 - 2
7-140739917-C-G c.2022G>C p.L674= Synonymous 17/18 - 1
7-140739917-C-T c.2022G>A p.L674= Synonymous 17/18 - 2
7-140739919-G-A c.2020C>T p.L674= Synonymous 17/18 - 2
7-140739918-A-C c.2021T>G p.L674R Missense 17/18 - 1
7-140739918-A-G c.2021T>C p.L674P Missense 17/18 - 1
7-140739918-A-T c.2021T>A p.L674Q Missense 17/18 - 1
7-140739920-G-A c.2019C>T p.Y673= Synonymous 17/18 - 1
7-140739921-T-G c.2018A>C p.Y673S Missense 17/18 - 7
7-140739922-A-G c.2017T>C p.Y673H Missense 17/18 - 1
7-140739923-TCC-GCT c.2014_2016delinsAGC p.G672S Missense 17/18 - 1
7-140739924-C-A c.2015G>T p.G672V Missense 17/18 - 1
7-140739925-C-A c.2014G>T p.G672* Nonsense 17/18 - 1
7-140739925-C-G c.2014G>C p.G672R Missense 17/18 - 1
7-140739925-C-T c.2014G>A p.G672R Missense 17/18 - 3
7-140739926-TCG-ACA c.2011_2013delinsTGT p.R671C Missense 17/18 - 1
7-140739927-C-A c.2012G>T p.R671L Missense 17/18 - 1
7-140739927-C-G c.2012G>C p.R671P Missense 17/18 - 1
7-140739927-CG-TT c.2011_2012delinsAA p.R671K Missense 17/18 - 1
7-140739927-C-T c.2012G>A p.R671Q Missense 17/18 - 26
7-140739928-CG-C c.2011del p.R671Efs*19 Frameshift 17/18 - 1
7-140739928-G-A c.2011C>T p.R671* Nonsense 17/18 - 3
7-140739928-G-C c.2011C>G p.R671G Missense 17/18 - 1
7-140739928-G-T c.2011C>A p.R671= Synonymous 17/18 - 1
7-140739929-T-A c.2010A>T p.G670= Synonymous 17/18 - 1
7-140739929-T-C c.2010A>G p.G670= Synonymous 17/18 - 1
7-140739930-C-T c.2009G>A p.G670E Missense 17/18 - 2
7-140739931-C-A c.2008G>T p.G670* Nonsense 17/18 - 1
7-140739931-C-T c.2008G>A p.G670R Missense 17/18 - 1
7-140739932-C-A c.2007G>T p.V669= Synonymous 17/18 - 2
7-140739932-C-G c.2007G>C p.V669= Synonymous 17/18 - 1
7-140739932-C-T c.2007G>A p.V669= Synonymous 17/18 - 1
7-140739933-A-G c.2006T>C p.V669A Missense 17/18 - 1
7-140739934-C-A c.2005G>T p.V669L Missense 17/18 - 3
7-140739934-C-G c.2005G>C p.V669L Missense 17/18 - 1
7-140739934-C-T c.2005G>A p.V669M Missense 17/18 - 2
7-140739935-C-A c.2004G>T p.M668I Missense 17/18 - 1
7-140739936-A-G c.2003T>C p.M668T Missense 17/18 - 1
7-140739937-AT-A c.2002del p.M668Wfs*22 Frameshift 17/18 - 1
7-140739938-AAA-CTC c.1999_2001delinsGAG p.F667E Missense 17/18 - 9
7-140739939-AA-GC c.1999_2000delinsGC p.F667A Missense 17/18 - 1
7-140739938-A-C c.2001T>G p.F667L Missense 17/18 - 1
7-140739938-A-T c.2001T>A p.F667L Missense 17/18 - 1
7-140739940-A-C c.1999T>G p.F667V Missense 17/18 - 4
7-140739940-A-G c.1999T>C p.F667L Missense 17/18 - 1
7-140739941-AA-CC c.1997_1998delinsGG p.I666R Missense 17/18 - 1
7-140739941-A-G c.1998T>C p.I666= Synonymous 17/18 - 4
7-140739941-A-T c.1998T>A p.I666= Synonymous 17/18 - 3
7-140739937-T-TA c.2001dup p.M668Yfs*13 Frameshift 17/18 - 1
7-140739943-T-G c.1996A>C p.I666L Missense 17/18 - 1
7-140739944-TA-GC c.1994_1995delinsGC p.I665S Missense 17/18 - 1
7-140740187-T-A c.1993-241A>T - IntronicSNV - 16/17 1
7-140740244-A-G c.1993-298T>C - IntronicSNV - 16/17 1
7-140741691-A-G c.1993-1745T>C - IntronicSNV - 16/17 1
7-140741888-C-T c.1993-1942G>A - IntronicSNV - 16/17 1
7-140743019-C-T c.1993-3073G>A - IntronicSNV - 16/17 1
7-140743695-T-C c.1993-3749A>G - IntronicSNV - 16/17 1
7-140743983-T-C c.1993-4037A>G - IntronicSNV - 16/17 1
7-140744553-G-A c.1993-4607C>T - IntronicSNV - 16/17 1
7-140745237-C-A c.1992+4050G>T - IntronicSNV - 16/17 1
7-140746183-A-T c.1992+3104T>A - IntronicSNV - 16/17 1
7-140746564-T-C c.1992+2723A>G - IntronicSNV - 16/17 1
7-140746942-G-A c.1992+2345C>T - IntronicSNV - 16/17 1
7-140747417-A-G c.1992+1870T>C - IntronicSNV - 16/17 1
7-140747482-T-A c.1992+1805A>T - IntronicSNV - 16/17 1
7-140749239-C-T c.1992+48G>A - IntronicSNV - 16/17 1
7-140749271-C-G c.1992+16G>C - IntronicSNV - 16/17 16
7-140749271-C-T c.1992+16G>A - IntronicSNV - 16/17 9
7-140749285-A-G c.1992+2T>C - IntronicSNV - 16/17 1
7-140749286-C-A c.1992+1G>T - IntronicSNV - 16/17 1
7-140749286-C-T c.1992+1G>A - IntronicSNV - 16/17 1
7-140749287-C-A c.1992G>T p.Q664H Missense 16/18 - 2
7-140749287-CTG-ACA c.1990_1992delinsTGT p.Q664C Missense 16/18 - 1
7-140749288-T-A c.1991A>T p.Q664L Missense 16/18 - 1
7-140749289-G-C c.1990C>G p.Q664E Missense 16/18 - 1
7-140749290-G-A c.1989C>T p.D663= Synonymous 16/18 - 1
7-140749291-T-C c.1988A>G p.D663G Missense 16/18 - 1
7-140749291-T-G c.1988A>C p.D663A Missense 16/18 - 4
7-140749292-C-A c.1987G>T p.D663Y Missense 16/18 - 3
7-140749292-C-CA c.1986_1987insT p.D663* Nonsense 16/18 - 1
7-140749292-C-G c.1987G>C p.D663H Missense 16/18 - 1
7-140749292-C-T c.1987G>A p.D663N Missense 16/18 - 1
7-140749293-CCT-ATG c.1984_1986delinsCAT p.R662H Missense 16/18 - 1
7-140749294-C-T c.1985G>A p.R662K Missense 16/18 - 1
7-140749294-CT-AG c.1984_1985inv p.R662L Missense 16/18 - 1
7-140749294-CT-GC c.1984_1985delinsGC p.R662A Missense 16/18 - 1
7-140749294-CT-TG c.1984_1985delinsCA p.R662Q Missense 16/18 - 1
7-140749295-T-A c.1984A>T p.R662W Missense 16/18 - 1
7-140749295-T-C c.1984A>G p.R662G Missense 16/18 - 1
7-140749295-T-G c.1984A>C p.R662= Synonymous 16/18 - 1
7-140749296-G-A c.1983C>T p.N661= Synonymous 16/18 - 2
7-140749296-G-T c.1983C>A p.N661K Missense 16/18 - 1
7-140749297-T-C c.1982A>G p.N661S Missense 16/18 - 1
7-140749297-TT-GC c.1981_1982delinsGC p.N661A Missense 16/18 - 1
7-140749298-T-C c.1981A>G p.N661D Missense 16/18 - 1
7-140749299-G-C c.1980C>G p.N660K Missense 16/18 - 1
7-140749299-G-T c.1980C>A p.N660K Missense 16/18 - 1
7-140749301-T-C c.1978A>G p.N660D Missense 16/18 - 1
7-140749302-G-A c.1977C>T p.I659= Synonymous 16/18 - 2
7-140749302-G-C c.1977C>G p.I659M Missense 16/18 - 1
7-140749302-G-T c.1977C>A p.I659= Synonymous 16/18 - 1
7-140749303-A-C c.1976T>G p.I659S Missense 16/18 - 1
7-140749304-T-A c.1975A>T p.I659F Missense 16/18 - 1
7-140749305-G-T c.1974C>A p.N658K Missense 16/18 - 1
7-140749307-T-C c.1972A>G p.N658D Missense 16/18 - 1
7-140749307-T-G c.1972A>C p.N658H Missense 16/18 - 1
7-140749308-T-A c.1971A>T p.S657= Synonymous 16/18 - 1
7-140749308-T-C c.1971A>G p.S657= Synonymous 16/18 - 1
7-140749308-T-G c.1971A>C p.S657= Synonymous 16/18 - 1
7-140749308-TG-AC c.1970_1971delinsGT p.S657C Missense 16/18 - 1
7-140749309-G-A c.1970C>T p.S657L Missense 16/18 - 1
7-140749309-G-T c.1970C>A p.S657* Nonsense 16/18 - 1
7-140749310-A-G c.1969T>C p.S657P Missense 16/18 - 1
7-140749312-T-C c.1967A>G p.Y656C Missense 16/18 - 1
7-140749313-A-C c.1966T>G p.Y656D Missense 16/18 - 3
7-140749313-A-T c.1966T>A p.Y656N Missense 16/18 - 1
7-140749314-A-G c.1965T>C p.P655= Synonymous 16/18 - 1
7-140749315-G-A c.1964C>T p.P655L Missense 16/18 - 2
7-140749316-G-C c.1963C>G p.P655A Missense 16/18 - 2
7-140749317-T-C c.1962A>G p.L654= Synonymous 16/18 - 1
7-140749319-A-G c.1960T>C p.L654= Synonymous 16/18 - 2
7-140749320-C-A c.1959G>T p.Q653H Missense 16/18 - 3
7-140749320-C-G c.1959G>C p.Q653H Missense 16/18 - 1
7-140749320-C-T c.1959G>A p.Q653= Synonymous 16/18 - 3
7-140749322-G-A c.1957C>T p.Q653* Nonsense 16/18 - 1
7-140749322-G-T c.1957C>A p.Q653K Missense 16/18 - 2
7-140749323-T-C c.1956A>G p.G652= Synonymous 16/18 - 1
7-140749324-C-A c.1955G>T p.G652V Missense 16/18 - 2
7-140749324-C-T c.1955G>A p.G652E Missense 16/18 - 1
7-140749325-C-A c.1954G>T p.G652* Nonsense 16/18 - 1
7-140749325-C-G c.1954G>C p.G652R Missense 16/18 - 1
7-140749325-C-T c.1954G>A p.G652R Missense 16/18 - 3
7-140749327-G-A c.1952C>T p.T651I Missense 16/18 - 1
7-140749328-T-C c.1951A>G p.T651A Missense 16/18 - 1
7-140749328-T-G c.1951A>C p.T651P Missense 16/18 - 1
7-140749329-C-A c.1950G>T p.M650I Missense 16/18 - 2
7-140749329-C-T c.1950G>A p.M650I Missense 16/18 - 1
7-140749331-T-C c.1948A>G p.M650V Missense 16/18 - 3
7-140749332-C-A c.1947G>T p.L649F Missense 16/18 - 1
7-140749332-C-T c.1947G>A p.L649= Synonymous 16/18 - 2
7-140749334-A-T c.1945T>A p.L649M Missense 16/18 - 1
7-140749335-T-A c.1944A>T p.E648D Missense 16/18 - 1
7-140749335-T-G c.1944A>C p.E648D Missense 16/18 - 1
7-140749336-T-C c.1943A>G p.E648G Missense 16/18 - 1
7-140749337-C-A c.1942G>T p.E648* Nonsense 16/18 - 1
7-140749337-C-G c.1942G>C p.E648Q Missense 16/18 - 7
7-140749337-C-T c.1942G>A p.E648K Missense 16/18 - 1
7-140749338-A-C c.1941T>G p.Y647* Nonsense 16/18 - 1
7-140749338-A-G c.1941T>C p.Y647= Synonymous 16/18 - 1
7-140749338-A-T c.1941T>A p.Y647* Nonsense 16/18 - 2
7-140749339-T-C c.1940A>G p.Y647C Missense 16/18 - 2
7-140749340-A-C c.1939T>G p.Y647D Missense 16/18 - 2
7-140749341-C-A c.1938G>T p.L646= Synonymous 16/18 - 1
7-140749342-A-C c.1937T>G p.L646R Missense 16/18 - 1
7-140749343-G-A c.1936C>T p.L646= Synonymous 16/18 - 1
7-140749343-G-C c.1936C>G p.L646V Missense 16/18 - 1
7-140749344-A-G c.1935T>C p.V645= Synonymous 16/18 - 1
7-140749346-C-A c.1933G>T p.V645F Missense 16/18 - 1
7-140749346-C-T c.1933G>A p.V645I Missense 16/18 - 4
7-140749347-A-C c.1932T>G p.I644M Missense 16/18 - 1
7-140749348-A-G c.1931T>C p.I644T Missense 16/18 - 1
7-140749350-T-A c.1929A>T p.G643= Synonymous 16/18 - 11
7-140749350-T-C c.1929A>G p.G643= Synonymous 16/18 - 41
7-140749350-TCC-ACA c.1927_1929delinsTGT p.G643C Missense 16/18 - 1
7-140749350-T-G c.1929A>C p.G643= Synonymous 16/18 - 9
7-140749351-C-A c.1928G>T p.G643V Missense 16/18 - 1
7-140749351-C-T c.1928G>A p.G643E Missense 16/18 - 1
7-140749352-C-A c.1927G>T p.G643* Nonsense 16/18 - 1
7-140749352-C-T c.1927G>A p.G643R Missense 16/18 - 2
7-140749353-A-T c.1926T>A p.F642L Missense 16/18 - 2
7-140749353-A-C c.1926T>G p.F642L Missense 16/18 - 1
7-140749355-A-G c.1924T>C p.F642L Missense 16/18 - 1
7-140749357-G-A c.1922C>T p.A641V Missense 16/18 - 1
7-140749358-C-A c.1921G>T p.A641S Missense 16/18 - 1
7-140749358-C-T c.1921G>A p.A641T Missense 16/18 - 1
7-140749360-T-A c.1919A>T p.Y640F Missense 16/18 - 1
7-140749361-A-G c.1918T>C p.Y640H Missense 16/18 - 1
7-140749362-T-A c.1917A>T p.V639= Synonymous 16/18 - 1
7-140749364-C-A c.1915G>T p.V639L Missense 16/18 - 1
7-140749364-C-G c.1915G>C p.V639L Missense 16/18 - 1
7-140749364-C-T c.1915G>A p.V639I Missense 16/18 - 9
7-140749365-A-C c.1914T>G p.D638E Missense 16/18 - 27
7-140749365-A-T c.1914T>A p.D638E Missense 16/18 - 17
7-140749366-T-C c.1913A>G p.D638G Missense 16/18 - 1
7-140749367-C-A c.1912G>T p.D638Y Missense 16/18 - 2
7-140749367-C-T c.1912G>A p.D638N Missense 16/18 - 2
7-140749368-TG-AA c.1910_1911delinsTT p.S637F Missense 16/18 - 1
7-140749368-TGA-GTC c.1909_1911delinsGAC p.S637D Missense 16/18 - 1
7-140749369-G-A c.1910C>T p.S637L Missense 16/18 - 3
7-140749369-G-C c.1910C>G p.S637* Nonsense 16/18 - 6
7-140749369-G-T c.1910C>A p.S637* Nonsense 16/18 - 4
7-140749370-A-C c.1909T>G p.S637A Missense 16/18 - 1
7-140749370-A-G c.1909T>C p.S637P Missense 16/18 - 6
7-140749371-C-A c.1908G>T p.Q636H Missense 16/18 - 1
7-140749371-C-T c.1908G>A p.Q636= Synonymous 16/18 - 1
7-140749372-T-C c.1907A>G p.Q636R Missense 16/18 - 1
7-140749373-G-A c.1906C>T p.Q636* Nonsense 16/18 - 8
7-140749373-G-C c.1906C>G p.Q636E Missense 16/18 - 3
7-140749373-G-T c.1906C>A p.Q636K Missense 16/18 - 1
7-140749374-A-C c.1905T>G p.F635L Missense 16/18 - 2
7-140749374-A-T c.1905T>A p.F635L Missense 16/18 - 2
7-140749376-A-G c.1903T>C p.F635L Missense 16/18 - 2
7-140749376-A-T c.1903T>A p.F635I Missense 16/18 - 6
7-140749378-C-A c.1901G>T p.S634I Missense 16/18 - 2
7-140749381-T-C c.1898A>G p.Y633C Missense 16/18 - 7
7-140749382-A-G c.1897T>C p.Y633H Missense 16/18 - 2
7-140749384-G-A c.1895C>T p.P632L Missense 16/18 - 2
7-140749384-G-T c.1895C>A p.P632Q Missense 16/18 - 2
7-140749385-G-A c.1894C>T p.P632S Missense 16/18 - 7
7-140749387-T-C c.1892A>G p.N631S Missense 16/18 - 1
7-140749387-TT-AA c.1891_1892inv p.N631F Missense 16/18 - 3
7-140749389-T-A c.1890A>T p.K630N Missense 16/18 - 1
7-140749389-T-G c.1890A>C p.K630N Missense 16/18 - 1
7-140749389-TT-GC c.1889_1890delinsGC p.K630S Missense 16/18 - 8
7-140749391-T-C c.1888A>G p.K630E Missense 16/18 - 1
7-140749391-T-G c.1888A>C p.K630Q Missense 16/18 - 1
7-140749393-T-C c.1886A>G p.D629G Missense 16/18 - 1
7-140749394-C-A c.1885G>T p.D629Y Missense 16/18 - 2
7-140749394-C-T c.1885G>A p.D629N Missense 16/18 - 3
7-140749395-T-C c.1884A>G p.Q628= Synonymous 16/18 - 1
7-140749396-T-G c.1883A>C p.Q628P Missense 16/18 - 1
7-140749397-G-A c.1882C>T p.Q628* Nonsense 16/18 - 1
7-140749398-C-A c.1881G>T p.M627I Missense 16/18 - 1
7-140749398-C-G c.1881G>C p.M627I Missense 16/18 - 1
7-140749401-TCT-ATA c.1876_1878delinsTAT p.R626Y Missense 16/18 - 1
7-140749401-TCT-ATG c.1876_1878delinsCAT p.R626H Missense 16/18 - 2
7-140749402-C-A c.1877G>T p.R626I Missense 16/18 - 4
7-140749402-C-T c.1877G>A p.R626K Missense 16/18 - 2
7-140749402-CT-TG c.1876_1877delinsCA p.R626Q Missense 16/18 - 1
7-140749403-T-C c.1876A>G p.R626G Missense 16/18 - 1
7-140749404-G-A c.1875C>T p.I625= Synonymous 16/18 - 2
7-140749404-G-C c.1875C>G p.I625M Missense 16/18 - 1
7-140749405-A-G c.1874T>C p.I625T Missense 16/18 - 1
7-140749406-T-A c.1873A>T p.I625F Missense 16/18 - 1
7-140749406-T-C c.1873A>G p.I625V Missense 16/18 - 3
7-140749406-T-G c.1873A>C p.I625L Missense 16/18 - 1
7-140749407-G-T c.1872C>A p.V624= Synonymous 16/18 - 2
7-140749408-A-G c.1871T>C p.V624A Missense 16/18 - 1
7-140749408-A-T c.1871T>A p.V624D Missense 16/18 - 1
7-140749409-C-A c.1870G>T p.V624F Missense 16/18 - 3
7-140749409-C-G c.1870G>C p.V624L Missense 16/18 - 1
7-140749409-C-T c.1870G>A p.V624I Missense 16/18 - 2
7-140749410-T-C c.1869A>G p.E623= Synonymous 16/18 - 1
7-140749411-T-A c.1868A>T p.E623V Missense 16/18 - 1
7-140749412-C-CA c.1866_1867insT p.E623* Nonsense 16/18 - 1
7-140749412-C-G c.1867G>C p.E623Q Missense 16/18 - 1
7-140749412-C-T c.1867G>A p.E623K Missense 16/18 - 5
7-140749413-T-A c.1866A>T p.P622= Synonymous 16/18 - 1
7-140749413-T-C c.1866A>G p.P622= Synonymous 16/18 - 1
7-140749413-T-G c.1866A>C p.P622= Synonymous 16/18 - 1
7-140749414-G-A c.1865C>T p.P622L Missense 16/18 - 2
7-140749415-G-C c.1864C>G p.P622A Missense 16/18 - 2
7-140749415-G-T c.1864C>A p.P622T Missense 16/18 - 1
7-140749416-T-C c.1863A>G p.A621= Synonymous 16/18 - 1
7-140749418-C-A c.1861G>T p.A621S Missense 16/18 - 2
7-140749418-C-T c.1861G>A p.A621T Missense 16/18 - 1
7-140750034-C-T c.1861-616G>A - IntronicSNV - 15/17 2
7-140750173-T-C c.1861-755A>G - IntronicSNV - 15/17 1
7-140750345-C-A c.1861-927G>T - IntronicSNV - 15/17 1
7-140750416-C-A c.1861-998G>T - IntronicSNV - 15/17 1
7-140750481-C-T c.1861-1063G>A - IntronicSNV - 15/17 1
7-140750486-A-G c.1861-1068T>C - IntronicSNV - 15/17 1
7-140750535-T-C c.1861-1117A>G - IntronicSNV - 15/17 1
7-140751145-G-A c.1861-1727C>T - IntronicSNV - 15/17 1
7-140751726-A-G c.1860+1549T>C - IntronicSNV - 15/17 1
7-140752359-C-T c.1860+916G>A - IntronicSNV - 15/17 1
7-140752563-C-A c.1860+712G>T - IntronicSNV - 15/17 2
7-140752563-C-G c.1860+712G>C - IntronicSNV - 15/17 2
7-140753167-T-C c.1860+108A>G - IntronicSNV - 15/17 2
7-140753267-A-T c.1860+8T>A - IntronicSNV - 15/17 1
7-140753272-T-C c.1860+3A>G - IntronicSNV - 15/17 1
7-140753274-C-A c.1860+1G>T - IntronicSNV - 15/17 4
7-140753274-C-CT c.1860_1860+1insA p.A621Sfs*10 SpliceDonorInsertion - - 1
7-140753274-C-T c.1860+1G>A - IntronicSNV - 15/17 1
7-140753275-C-A c.1860G>T p.M620I Missense 15/18 - 3
7-140753275-C-G c.1860G>C p.M620I Missense 15/18 - 2
7-140753275-C-T c.1860G>A p.M620I Missense 15/18 - 3
7-140753276-A-T c.1859T>A p.M620K Missense 15/18 - 1
7-140753278-C-A c.1857G>T p.W619C Missense 15/18 - 3
7-140753278-C-G c.1857G>C p.W619C Missense 15/18 - 2
7-140753278-C-T c.1857G>A p.W619* Nonsense 15/18 - 2
7-140753279-C-A c.1856G>T p.W619L Missense 15/18 - 1
7-140753279-C-T c.1856G>A p.W619* Nonsense 15/18 - 2
7-140753280-A-G c.1855T>C p.W619R Missense 15/18 - 4
7-140753280-A-T c.1855T>A p.W619R Missense 15/18 - 4
7-140753281-C-A c.1854G>T p.L618F Missense 15/18 - 4
7-140753281-C-G c.1854G>C p.L618F Missense 15/18 - 2
7-140753282-A-C c.1853T>G p.L618W Missense 15/18 - 5
7-140753282-A-G c.1853T>C p.L618S Missense 15/18 - 6
7-140753283-A-C c.1852T>G p.L618V Missense 15/18 - 3
7-140753283-A-T c.1852T>A p.L618M Missense 15/18 - 2
7-140753284-AA-CC c.1850_1851delinsGG p.I617R Missense 15/18 - 2
7-140753285-A-G c.1850T>C p.I617T Missense 15/18 - 4
7-140753286-T-A c.1849A>T p.I617F Missense 15/18 - 2
7-140753286-T-C c.1849A>G p.I617V Missense 15/18 - 1
7-140753286-T-G c.1849A>C p.I617L Missense 15/18 - 1
7-140753287-G-A c.1848C>T p.S616= Synonymous 15/18 - 3
7-140753287-G-C c.1848C>G p.S616= Synonymous 15/18 - 1
7-140753287-GGA-CTC c.1846_1848delinsGAG p.S616E Missense 15/18 - 1
7-140753287-G-T c.1848C>A p.S616= Synonymous 15/18 - 1
7-140753286-TG-T c.1848del p.I617Ffs*33 Frameshift 15/18 - 1
7-140753288-G-A c.1847C>T p.S616F Missense 15/18 - 21
7-140753288-GA-TC c.1846_1847inv p.S616D Missense 15/18 - 2
7-140753289-A-C c.1846T>G p.S616A Missense 15/18 - 1
7-140753289-A-G c.1846T>C p.S616P Missense 15/18 - 6
7-140753290-T-C c.1845A>G p.G615= Synonymous 15/18 - 1
7-140753290-TCC-GCT c.1843_1845delinsAGC p.G615S Missense 15/18 - 1
7-140753291-C-A c.1844G>T p.G615V Missense 15/18 - 2
7-140753291-C-T c.1844G>A p.G615E Missense 15/18 - 3
7-140753292-C-A c.1843G>T p.G615* Nonsense 15/18 - 1
7-140753292-C-G c.1843G>C p.G615R Missense 15/18 - 11
7-140753292-C-T c.1843G>A p.G615R Missense 15/18 - 14
7-140753293-A-C c.1842T>G p.S614= Synonymous 15/18 - 1
7-140753293-A-G c.1842T>C p.S614= Synonymous 15/18 - 1
7-140753293-A-T c.1842T>A p.S614= Synonymous 15/18 - 1
7-140753294-G-A c.1841C>T p.S614F Missense 15/18 - 1
7-140753294-GA-AT c.1840_1841delinsAT p.S614I Missense 15/18 - 1
7-140753294-GA-CG c.1840_1841delinsCG p.S614R Missense 15/18 - 1
7-140753294-G-T c.1841C>A p.S614Y Missense 15/18 - 2
7-140753295-A-G c.1840T>C p.S614P Missense 15/18 - 11
7-140753296-C-A c.1839G>T p.L613F Missense 15/18 - 17
7-140753296-C-G c.1839G>C p.L613F Missense 15/18 - 14
7-140753296-C-T c.1839G>A p.L613= Synonymous 15/18 - 1
7-140753296-C-CA c.1838dup p.L613Ffs*18 Frameshift 15/18 - 1
7-140753298-A-C c.1837T>G p.L613V Missense 15/18 - 11
7-140753298-A-T c.1837T>A p.L613M Missense 15/18 - 1
7-140753299-C-A c.1836G>T p.Q612H Missense 15/18 - 1
7-140753299-C-T c.1836G>A p.Q612= Synonymous 15/18 - 1
7-140753300-T-A c.1835A>T p.Q612L Missense 15/18 - 1
7-140753300-T-C c.1835A>G p.Q612R Missense 15/18 - 1
7-140753300-T-G c.1835A>C p.Q612P Missense 15/18 - 1
7-140753301-G-A c.1834C>T p.Q612* Nonsense 15/18 - 6
7-140753301-G-C c.1834C>G p.Q612E Missense 15/18 - 2
7-140753301-G-T c.1834C>A p.Q612K Missense 15/18 - 2
7-140753302-T-A c.1833A>T p.E611D Missense 15/18 - 1
7-140753302-T-C c.1833A>G p.E611= Synonymous 15/18 - 1
7-140753302-T-G c.1833A>C p.E611D Missense 15/18 - 1
7-140753303-T-C c.1832A>G p.E611G Missense 15/18 - 4
7-140753303-T-G c.1832A>C p.E611A Missense 15/18 - 1
7-140753304-C-A c.1831G>T p.E611* Nonsense 15/18 - 5
7-140753304-C-G c.1831G>C p.E611Q Missense 15/18 - 2
7-140753304-C-T c.1831G>A p.E611K Missense 15/18 - 3
7-140753306-A-G c.1829T>C p.F610S Missense 15/18 - 3
7-140753304-CA-C c.1830del p.F610Lfs*40 Frameshift 15/18 - 1
7-140753304-C-CA c.1830dup p.E611* Nonsense 15/18 - 1
7-140753305-A-C c.1830T>G p.F610L Missense 15/18 - 3
7-140753305-A-T c.1830T>A p.F610L Missense 15/18 - 3
7-140753307-A-G c.1828T>C p.F610L Missense 15/18 - 4
7-140753308-C-A c.1827G>T p.Q609H Missense 15/18 - 12
7-140753308-C-CA c.1826_1827insT p.Q609Hfs*3 Frameshift 15/18 - 1
7-140753308-C-G c.1827G>C p.Q609H Missense 15/18 - 9
7-140753308-C-T c.1827G>A p.Q609= Synonymous 15/18 - 2
7-140753309-T-A c.1826A>T p.Q609L Missense 15/18 - 3
7-140753309-T-C c.1826A>G p.Q609R Missense 15/18 - 6
7-140753310-G-A c.1825C>T p.Q609* Nonsense 15/18 - 2
7-140753310-G-C c.1825C>G p.Q609E Missense 15/18 - 7
7-140753310-G-T c.1825C>A p.Q609K Missense 15/18 - 1
7-140753312-T-A c.1823A>T p.H608L Missense 15/18 - 3
7-140753312-T-C c.1823A>G p.H608R Missense 15/18 - 10
7-140753312-TG-CC c.1822_1823delinsGG p.H608G Missense 15/18 - 1
7-140753313-G-A c.1822C>T p.H608Y Missense 15/18 - 8
7-140753314-G-A c.1821C>T p.S607= Synonymous 15/18 - 2
7-140753314-GG-TT c.1820_1821delinsAA p.S607* Nonsense 15/18 - 1
7-140753312-TG-T c.1822del p.H608Ifs*42 Frameshift 15/18 - 1
7-140753315-G-A c.1820C>T p.S607F Missense 15/18 - 13
7-140753316-A-G c.1819T>C p.S607P Missense 15/18 - 7
7-140753317-C-A c.1818G>T p.G606= Synonymous 15/18 - 1
7-140753317-CCC-GCT c.1816_1818delinsAGC p.G606S Missense 15/18 - 2
7-140753317-C-T c.1818G>A p.G606= Synonymous 15/18 - 1
7-140753316-ACC-A c.1817_1818del p.G606Vfs*5 Frameshift 15/18 - 1
7-140753318-C-A c.1817G>T p.G606V Missense 15/18 - 5
7-140753318-CC-AG c.1816_1817delinsCT p.G606L Missense 15/18 - 3
7-140753318-C-G c.1817G>C p.G606A Missense 15/18 - 3
7-140753318-C-T c.1817G>A p.G606E Missense 15/18 - 14
7-140753319-C-A c.1816G>T p.G606W Missense 15/18 - 3
7-140753319-C-G c.1816G>C p.G606R Missense 15/18 - 8
7-140753319-C-T c.1816G>A p.G606R Missense 15/18 - 13
7-140753318-CCACTCCATCGAGATTTCA-C c.1799_1816del p.V600_S605del InFrameDeletion 15/18 - 1
7-140753320-A-C c.1815T>G p.S605R Missense 15/18 - 5
7-140753320-ACTCCATCGAGATTTCA-CTTTT c.1799_1815delinsAAAAG p.V600_S605delinsEK MultiAAMissense 15/18 - 1
7-140753320-ACT-CTTCTC c.1813_1815delinsGAGAAG p.S605delinsEK MultiAAMissense 15/18 - 1
7-140753320-A-G c.1815T>C p.S605= Synonymous 15/18 - 1
7-140753320-A-T c.1815T>A p.S605R Missense 15/18 - 5
7-140753322-T-G c.1813A>C p.S605R Missense 15/18 - 5
7-140753321-ACTCCATCGAGAT-A c.1803_1814del p.K601_S605delinsN MultiAAMissense 15/18 - 1
7-140753321-C-A c.1814G>T p.S605I Missense 15/18 - 5
7-140753321-C-T c.1814G>A p.S605N Missense 15/18 - 27
7-140753321-CT-AA c.1813_1814delinsTT p.S605F Missense 15/18 - 17
7-140753321-CTCCATCGAGATTTCA-ACAT c.1799_1814delinsATGT p.V600_S605delinsDV MultiAAMissense 15/18 - 1
7-140753321-CTCCATCGAGATTTCA-T c.1799_1814delinsA p.V600_S605delinsD MultiAAMissense 15/18 - 1
7-140753322-T-A c.1813A>T p.S605C Missense 15/18 - 3
7-140753322-T-C c.1813A>G p.S605G Missense 15/18 - 13
7-140753323-C-A c.1812G>T p.W604C Missense 15/18 - 4
7-140753323-CCA-ACCGTCTGTTTGGTC c.1810_1812delinsGACCAAACAGACGGT p.W604delinsDQTDG MultiAAMissense 15/18 - 1
7-140753323-CCA-ATG c.1810_1812delinsCAT p.W604H Missense 15/18 - 1
7-140753323-CCA-GAT c.1810_1812delinsATC p.W604I Missense 15/18 - 1
7-140753323-CCA-GTT c.1810_1812delinsAAC p.W604N Missense 15/18 - 1
7-140753323-C-G c.1812G>C p.W604C Missense 15/18 - 3
7-140753323-C-T c.1812G>A p.W604* Nonsense 15/18 - 3
7-140753323-TCCA-T c.1810_1812del p.W604del InFrameDeletion 15/18 - 3
7-140753323-TCCATCGAGATTTCAC-T c.1798_1812del p.V600_W604del InFrameDeletion 15/18 - 6
7-140753321-CTCCATCGAGATT-C c.1802_1813del p.K601_W604del InFrameDeletion 15/18 - 5
7-140753324-C-A c.1811G>T p.W604L Missense 15/18 - 9
7-140753324-C-G c.1811G>C p.W604S Missense 15/18 - 1
7-140753324-C-T c.1811G>A p.W604* Nonsense 15/18 - 4
7-140753323-CCAT-C c.1809_1811del p.W604del InFrameDeletion 15/18 - 1
7-140753323-CCATCGAGATTTCA-C c.1799_1811del p.V600Gfs*46 Frameshift 15/18 - 1
7-140753325-A-C c.1810T>G p.W604G Missense 15/18 - 7
7-140753325-A-G c.1810T>C p.W604R Missense 15/18 - 3
7-140753325-A-T c.1810T>A p.W604R Missense 15/18 - 2
7-140753325-ATCGAGATTTCACT-CATCA c.1797_1810delinsTGATG p.V600_W604delinsDG MultiAAMissense 15/18 - 1
7-140753325-ATCGAGATTTCA-CTCGAGATT c.1799_1810delinsAATCTCGAG p.V600_W604delinsESRG MultiAAMissense 15/18 - 1
7-140753326-ATCG-A c.1807_1809del p.R603del InFrameDeletion 15/18 - 1
7-140753326-TCG-AAA c.1807_1809delinsTTT p.R603F Missense 15/18 - 1
7-140753326-TCG-ACA c.1807_1809delinsTGT p.R603C Missense 15/18 - 1
7-140753326-TCGAGATTTCAC-GAGAAGAGCCAA c.1798_1809delinsTTGGCTCTTCTC p.V600_R603delinsLALL MultiAAMissense 15/18 - 1
7-140753326-TCGAGATTTCACTG-GA c.1796_1809delinsTC p.T599_R603delinsI MultiAAMissense 15/18 - 1
7-140753326-TCG-ATA c.1807_1809delinsTAT p.R603Y Missense 15/18 - 1
7-140753326-TCG-CAT c.1807_1809delinsATG p.R603M Missense 15/18 - 1
7-140753326-TCG-CCA c.1807_1809delinsTGG p.R603W Missense 15/18 - 1
7-140753326-TCG-GTT c.1807_1809delinsAAC p.R603N Missense 15/18 - 1
7-140753325-ATCGAGATTTCAC-A c.1798_1809del p.V600_R603del InFrameDeletion 15/18 - 5
7-140753327-C-A c.1808G>T p.R603L Missense 15/18 - 6
7-140753327-C-T c.1808G>A p.R603Q Missense 15/18 - 24
7-140753326-T-A c.1809A>T p.R603= Synonymous 15/18 - 1
7-140753326-T-C c.1809A>G p.R603= Synonymous 15/18 - 2
7-140753326-T-G c.1809A>C p.R603= Synonymous 15/18 - 1
7-140753328-G-A c.1807C>T p.R603* Nonsense 15/18 - 29
7-140753328-G-T c.1807C>A p.R603= Synonymous 15/18 - 1
7-140753329-A-C c.1806T>G p.S602= Synonymous 15/18 - 2
7-140753329-A-G c.1806T>C p.S602= Synonymous 15/18 - 2
7-140753329-AGA-CAT c.1804_1806delinsATG p.S602M Missense 15/18 - 1
7-140753329-AGA-CTC c.1804_1806delinsGAG p.S602E Missense 15/18 - 1
7-140753329-AGA-CTT c.1804_1806delinsAAG p.S602K Missense 15/18 - 1
7-140753329-AGA-TGTGTC c.1804_1806delinsGACACA p.S602delinsDT MultiAAMissense 15/18 - 1
7-140753329-AGA-TGTGTT c.1804_1806delinsAACACA p.S602delinsNT MultiAAMissense 15/18 - 2
7-140753329-AGA-TTG c.1804_1806delinsCAA p.S602Q Missense 15/18 - 1
7-140753329-A-T c.1806T>A p.S602= Synonymous 15/18 - 2
7-140753330-G-A c.1805C>T p.S602F Missense 15/18 - 9
7-140753330-GA-AT c.1804_1805delinsAT p.S602I Missense 15/18 - 1
7-140753330-GA-TC c.1804_1805inv p.S602D Missense 15/18 - 2
7-140753330-G-C c.1805C>G p.S602C Missense 15/18 - 1
7-140753330-G-T c.1805C>A p.S602Y Missense 15/18 - 8
7-140753331-A-C c.1804T>G p.S602A Missense 15/18 - 3
7-140753331-A-G c.1804T>C p.S602P Missense 15/18 - 3
7-140753331-A-T c.1804T>A p.S602T Missense 15/18 - 4
7-140753332-ATTT-A c.1801_1803del p.K601del InFrameDeletion 15/18 - 36
7-140753332-T-A c.1803A>T p.K601N Missense 15/18 - 157
7-140753332-T-C c.1803A>G p.K601= Synonymous 15/18 - 12
7-140753332-T-G c.1803A>C p.K601N Missense 15/18 - 139
7-140753332-TTT-AAA c.1801_1803inv p.K601F Missense 15/18 - 1
7-140753332-TTT-ACA c.1801_1803delinsTGT p.K601C Missense 15/18 - 1
7-140753332-TTTCA-AT c.1799_1803delinsAT p.V600_K601delinsD MultiAAMissense 15/18 - 2
7-140753332-TTTCA-GAGAT c.1799_1803delinsATCTC p.V600_K601delinsDL MultiAAMissense 15/18 - 1
7-140753332-TTTCA-GT c.1799_1803delinsAC p.V600_K601delinsD MultiAAMissense 15/18 - 1
7-140753332-TTT-CCA c.1801_1803delinsTGG p.K601W Missense 15/18 - 1
7-140753332-TTT-CTCCTC c.1801_1803delinsGAGGAG p.K601delinsEE MultiAAMissense 15/18 - 1
7-140753332-TTT-GATCTC c.1801_1803delinsGAGATC p.K601delinsEI MultiAAMissense 15/18 - 1
7-140753331-ATTTCAC-A c.1798_1803del p.V600_K601del InFrameDeletion 15/18 - 2
7-140753333-T-A c.1802A>T p.K601I Missense 15/18 - 32
7-140753333-T-C c.1802A>G p.K601R Missense 15/18 - 21
7-140753333-T-G c.1802A>C p.K601T Missense 15/18 - 29
7-140753333-TT-AG c.1801_1802delinsCT p.K601L Missense 15/18 - 9
7-140753333-TT-CC c.1801_1802delinsGG p.K601G Missense 15/18 - 1
7-140753332-T-TTTTACTGTG c.1802_1803insCACAGTAAA p.V600_K601insNTV InFrameInsertion 15/18 - 1
7-140753333-T-TTTACTG c.1801_1802insCAGTAA p.T599_V600dup InFrameInsertion 15/18 - 1
7-140753334-T-A c.1801A>T p.K601* Nonsense 15/18 - 3
7-140753334-T-C c.1801A>G p.K601E Missense 15/18 - 626
7-140753334-TCA-AGG c.1799_1801delinsCCT p.V600_K601delinsA* MultiAAMissense 15/18 - 1
7-140753334-T-G c.1801A>C p.K601Q Missense 15/18 - 41
7-140753334-TTCA-T c.1799_1801del p.V600_K601delinsE MultiAAMissense 15/18 - 42
7-140753335-C-A c.1800G>T p.V600= Synonymous 15/18 - 32
7-140753335-CA-AAGGT c.1799_1800delinsACCTT p.V600delinsDL MultiAAMissense 15/18 - 1
7-140753335-CA-AAGTG c.1799_1800delinsCACTT p.V600delinsAL MultiAAMissense 15/18 - 2
7-140753335-CA-AT c.1799_1800delinsAT p.V600D Missense 15/18 - 193
7-140753335-CAC-AAA c.1798_1800delinsTTT p.V600F Missense 15/18 - 19
7-140753335-CAC-ACA c.1798_1800delinsTGT p.V600C Missense 15/18 - 1
7-140753335-CAC-ATA c.1798_1800delinsTAT p.V600Y Missense 15/18 - 1
7-140753335-CAC-ATG c.1798_1800delinsCAT p.V600H Missense 15/18 - 2
7-140753335-CAC-GAT c.1798_1800delinsATC p.V600I Missense 15/18 - 3
7-140753335-CAC-GTT c.1798_1800delinsAAC p.V600N Missense 15/18 - 2
7-140753335-CACTGT-AGGGAG c.1795_1800delinsCTCCCT p.T599_V600delinsLP MultiAAMissense 15/18 - 2
7-140753335-CA-GT c.1799_1800delinsAC p.V600D Missense 15/18 - 418
7-140753335-CA-TT c.1799_1800delinsAA p.V600E Missense 15/18 - 20
7-140753335-C-G c.1800G>C p.V600= Synonymous 15/18 - 27
7-140753335-C-T c.1800G>A p.V600= Synonymous 15/18 - 35
7-140753335-TCAC-T c.1798_1800del p.V600del InFrameDeletion 15/18 - 1
7-140753336-AC-TCCCT c.1798_1799delinsAGGGA p.V600delinsRE MultiAAMissense 15/18 - 3
7-140753334-TCA-T c.1799_1800del p.V600Efs*11 Frameshift 15/18 - 3
7-140753336-A-AAAT c.1798_1799insATT p.V600delinsDL MultiAAMissense 15/18 - 1
7-140753336-A-C c.1799T>G p.V600G Missense 15/18 - 161
7-140753336-AC-CA c.1798_1799delinsTG p.V600W Missense 15/18 - 1
7-140753336-AC-CT c.1798_1799delinsAG p.V600R Missense 15/18 - 476
7-140753336-AC-GA c.1798_1799delinsTC p.V600S Missense 15/18 - 2
7-140753336-AC-GT c.1798_1799inv p.V600T Missense 15/18 - 1
7-140753336-AC-TA c.1798_1799delinsTA p.V600* Nonsense 15/18 - 25
7-140753336-AC-TG c.1798_1799delinsCA p.V600Q Missense 15/18 - 22
7-140753336-AC-TT c.1798_1799delinsAA p.V600K Missense 15/18 - 1394
7-140753336-A-G c.1799T>C p.V600A Missense 15/18 - 102
7-140753336-A-T c.1799T>A p.V600E Missense 15/18 - 15115
7-140753336-CA-C c.1799del p.V600Gfs*50 Frameshift 15/18 - 2
7-140753337-ACTG-A c.1796_1798del p.T599_V600delinsM MultiAAMissense 15/18 - 1
7-140753337-C-A c.1798G>T p.V600L Missense 15/18 - 63
7-140753337-C-CAAT c.1797_1798insATT p.T599_V600insI InFrameInsertion 15/18 - 1
7-140753337-C-CCCT c.1797_1798insAGG p.T599_V600insR InFrameInsertion 15/18 - 1
7-140753337-C-G c.1798G>C p.V600L Missense 15/18 - 61
7-140753337-C-T c.1798G>A p.V600M Missense 15/18 - 249
7-140753337-C-TGTA c.1798delinsTACA p.V600delinsYM MultiAAMissense 15/18 - 1
7-140753336-ACTGTAGCTAGACCAAAAT-A c.1781_1798del p.D594_T599del InFrameDeletion 15/18 - 5
7-140753337-C-CTTG c.1797_1798insCAA p.T599_V600insQ InFrameInsertion 15/18 - 1
7-140753338-CTGT-C c.1795_1797del p.T599del InFrameDeletion 15/18 - 11
7-140753338-T-A c.1797A>T p.T599= Synonymous 15/18 - 9
7-140753338-T-C c.1797A>G p.T599= Synonymous 15/18 - 12
7-140753338-T-G c.1797A>C p.T599= Synonymous 15/18 - 13
7-140753338-TG-AGGGA c.1796_1797delinsTCCCT p.T599delinsIP MultiAAMissense 15/18 - 2
7-140753338-TG-CA c.1796_1797inv p.T599M Missense 15/18 - 1
7-140753338-TG-GT c.1796_1797delinsAC p.T599N Missense 15/18 - 1
7-140753338-TGT-AAA c.1795_1797delinsTTT p.T599F Missense 15/18 - 1
7-140753338-TGT-ACA c.1795_1797inv p.T599C Missense 15/18 - 1
7-140753338-TGT-ATA c.1795_1797delinsTAT p.T599Y Missense 15/18 - 1
7-140753338-TGT-ATG c.1795_1797delinsCAT p.T599H Missense 15/18 - 1
7-140753338-TGT-CCA c.1795_1797delinsTGG p.T599W Missense 15/18 - 2
7-140753338-TGT-GTC c.1795_1797delinsGAC p.T599D Missense 15/18 - 2
7-140753338-T-TATG c.1796_1797insCAT p.T599_V600insI InFrameInsertion 15/18 - 1
7-140753339-G-A c.1796C>T p.T599I Missense 15/18 - 104
7-140753339-G-C c.1796C>G p.T599R Missense 15/18 - 47
7-140753339-G-GGTA c.1795_1796insTAC p.T599delinsIP MultiAAMissense 15/18 - 1
7-140753339-G-T c.1796C>A p.T599K Missense 15/18 - 6
7-140753339-GT-AC c.1795_1796inv p.T599V Missense 15/18 - 1
7-140753339-GT-TC c.1795_1796delinsGA p.T599E Missense 15/18 - 8
7-140753339-TG-T c.1796del p.T599Kfs*2 Frameshift 15/18 - 1
7-140753336-A-ACTGTTGCAAGACCAAAGT c.1798_1799insACTTTGGTCTTGCAACAG p.D594_T599dup InFrameInsertion 15/18 - 12
7-140753336-A-ACTGTTGCCT c.1798_1799insAGGCAACAG p.T599_V600insEAT InFrameInsertion 15/18 - 1
7-140753336-A-ACTGTTGCGATCT c.1798_1799insAGATCGCAACAG p.T599_V600insEIAT InFrameInsertion 15/18 - 1
7-140753336-A-ACTGTTGTCT c.1798_1799insAGACAACAG p.T599_V600insETT InFrameInsertion 15/18 - 1
7-140753337-C-CTGTTGT c.1797_1798insACAACA p.T599_V600insTT InFrameInsertion 15/18 - 16
7-140753338-TGTA-T c.1794_1796del p.T599del InFrameDeletion 15/18 - 4
7-140753338-T-TGTA c.1794_1796dup p.T599dup InFrameInsertion 15/18 - 4
7-140753339-G-GTCC c.1795_1796insGGA p.A598_T599insR InFrameInsertion 15/18 - 1
7-140753339-G-GTGA c.1795_1796insTCA p.A598_T599insI InFrameInsertion 15/18 - 1
7-140753339-G-GTTA c.1795_1796insTAA p.A598_T599insI InFrameInsertion 15/18 - 1
7-140753339-G-GTTGCAAGACCAAAGTCACCGATCTTCT c.1795_1796insAGAAGATCGGTGACTTTGGTCTTGCAA p.A598_T599insKKIGDFGLA InFrameInsertion 15/18 - 1
7-140753339-G-GTTGCAAGACCAAAGTTACCCTTCT c.1795_1796insAGAAGGGTAACTTTGGTCTTGCAA p.A598_T599insKKGNFGLA InFrameInsertion 15/18 - 1
7-140753339-G-GTTGCAAGGA c.1795_1796insTCCTTGCAA p.A598_T599insILA InFrameInsertion 15/18 - 1
7-140753340-T-A c.1795A>T p.T599S Missense 15/18 - 3
7-140753340-T-C c.1795A>G p.T599A Missense 15/18 - 14
7-140753340-T-TTAC c.1794_1795insGTA p.A598_T599insV InFrameInsertion 15/18 - 5
7-140753336-A-ACTGTAATCT c.1798_1799insAGATTACAG p.T599_V600insEIT InFrameInsertion 15/18 - 1
7-140753336-A-ACTGTACCTGCAAGAAAGT c.1798_1799insACTTTCTTGCAGGTACAG p.T599_V600insDFLAGT InFrameInsertion 15/18 - 1
7-140753339-G-GTAA c.1795_1796insTTA p.A598_T599insI InFrameInsertion 15/18 - 1
7-140753340-T-TAAC c.1794_1795insGTT p.A598_T599insV InFrameInsertion 15/18 - 13
7-140753341-A-AAAC c.1793_1794insGTT p.A598_T599insF InFrameInsertion 15/18 - 1
7-140753341-A-C c.1794T>G p.A598= Synonymous 15/18 - 7
7-140753341-A-G c.1794T>C p.A598= Synonymous 15/18 - 10
7-140753341-AGC-CAT c.1792_1794delinsATG p.A598M Missense 15/18 - 1
7-140753341-AGC-CCA c.1792_1794delinsTGG p.A598W Missense 15/18 - 1
7-140753341-AGC-CTT c.1792_1794delinsAAG p.A598K Missense 15/18 - 1
7-140753341-AGC-TTG c.1792_1794delinsCAA p.A598Q Missense 15/18 - 1
7-140753341-A-T c.1794T>A p.A598= Synonymous 15/18 - 10
7-140753341-TAGC-T c.1792_1794del p.A598del InFrameDeletion 15/18 - 1
7-140753336-A-ACTGTAGATTTCT c.1798_1799insAGAAATCTACAG p.T599_V600insEKST InFrameInsertion 15/18 - 1
7-140753336-A-ACTGTAGTCT c.1798_1799insAGACTACAG p.T599_V600insETT InFrameInsertion 15/18 - 1
7-140753342-G-A c.1793C>T p.A598V Missense 15/18 - 38
7-140753342-G-C c.1793C>G p.A598G Missense 15/18 - 1
7-140753342-GC-AA c.1792_1793delinsTT p.A598F Missense 15/18 - 1
7-140753342-G-T c.1793C>A p.A598D Missense 15/18 - 1
7-140753343-C-A c.1792G>T p.A598S Missense 15/18 - 1
7-140753343-C-T c.1792G>A p.A598T Missense 15/18 - 14
7-140753336-A-ACTGTAGCTT c.1798_1799insAAGCTACAG p.T599_V600insEAT InFrameInsertion 15/18 - 1
7-140753337-C-CTGTAGCTTT c.1797_1798insAAAGCTACA p.T599_V600insKAT InFrameInsertion 15/18 - 2
7-140753343-C-CTGT c.1791_1792insACA p.L597_A598insT InFrameInsertion 15/18 - 1
7-140753344-T-A c.1791A>T p.L597= Synonymous 15/18 - 10
7-140753344-TA-AT c.1790_1791delinsAT p.L597H Missense 15/18 - 1
7-140753344-TAG-ACA c.1789_1791delinsTGT p.L597C Missense 15/18 - 1
7-140753344-TAG-ATA c.1789_1791delinsTAT p.L597Y Missense 15/18 - 1
7-140753344-TAG-CCA c.1789_1791delinsTGG p.L597W Missense 15/18 - 1
7-140753344-TAG-GTC c.1789_1791delinsGAC p.L597D Missense 15/18 - 2
7-140753344-TAG-GTT c.1789_1791delinsAAC p.L597N Missense 15/18 - 1
7-140753344-T-C c.1791A>G p.L597= Synonymous 15/18 - 12
7-140753344-T-G c.1791A>C p.L597= Synonymous 15/18 - 7
7-140753346-G-A c.1789C>T p.L597= Synonymous 15/18 - 14
7-140753345-A-C c.1790T>G p.L597R Missense 15/18 - 187
7-140753345-A-G c.1790T>C p.L597P Missense 15/18 - 15
7-140753345-AG-GA c.1789_1790delinsTC p.L597S Missense 15/18 - 104
7-140753345-AG-GC c.1789_1790delinsGC p.L597A Missense 15/18 - 2
7-140753345-AG-TA c.1789_1790delinsTA p.L597* Nonsense 15/18 - 4
7-140753345-AG-TT c.1789_1790delinsAA p.L597K Missense 15/18 - 3
7-140753345-A-T c.1790T>A p.L597Q Missense 15/18 - 169
7-140753346-G-C c.1789C>G p.L597V Missense 15/18 - 154
7-140753346-G-T c.1789C>A p.L597I Missense 15/18 - 5
7-140753347-A-C c.1788T>G p.G596= Synonymous 15/18 - 3
7-140753347-A-G c.1788T>C p.G596= Synonymous 15/18 - 6
7-140753347-A-T c.1788T>A p.G596= Synonymous 15/18 - 3
7-140753348-C-A c.1787G>T p.G596V Missense 15/18 - 52
7-140753348-CC-TT c.1786_1787delinsAA p.G596N Missense 15/18 - 2
7-140753348-C-G c.1787G>C p.G596A Missense 15/18 - 2
7-140753348-C-T c.1787G>A p.G596D Missense 15/18 - 57
7-140753349-C-A c.1786G>T p.G596C Missense 15/18 - 16
7-140753349-C-G c.1786G>C p.G596R Missense 15/18 - 143
7-140753349-C-T c.1786G>A p.G596S Missense 15/18 - 23
7-140753350-A-G c.1785T>C p.F595= Synonymous 15/18 - 1
7-140753351-AA-CC c.1783_1784delinsGG p.F595G Missense 15/18 - 1
7-140753351-AA-CG c.1783_1784delinsCG p.F595R Missense 15/18 - 1
7-140753351-AA-GC c.1783_1784delinsGC p.F595A Missense 15/18 - 1
7-140753351-A-C c.1784T>G p.F595C Missense 15/18 - 1
7-140753351-A-G c.1784T>C p.F595S Missense 15/18 - 26
7-140753351-A-T c.1784T>A p.F595Y Missense 15/18 - 4
7-140753350-A-C c.1785T>G p.F595L Missense 15/18 - 111
7-140753350-A-T c.1785T>A p.F595L Missense 15/18 - 97
7-140753352-A-C c.1783T>G p.F595V Missense 15/18 - 2
7-140753352-A-G c.1783T>C p.F595L Missense 15/18 - 82
7-140753349-CA-C c.1785del p.F595Lfs*3 Frameshift 15/18 - 1
7-140753349-C-CA c.1785dup p.G596Wfs*16 Frameshift 15/18 - 1
7-140753353-A-C c.1782T>G p.D594E Missense 15/18 - 43
7-140753353-A-G c.1782T>C p.D594= Synonymous 15/18 - 5
7-140753353-A-T c.1782T>A p.D594E Missense 15/18 - 59
7-140753353-ATC-CTT c.1780_1782delinsAAG p.D594K Missense 15/18 - 7
7-140753353-ATC-TTA c.1780_1782delinsTAA p.D594* Nonsense 15/18 - 5
7-140753352-AATC-A c.1780_1782del p.D594del InFrameDeletion 15/18 - 1
7-140753354-T-A c.1781A>T p.D594V Missense 15/18 - 94
7-140753354-T-C c.1781A>G p.D594G Missense 15/18 - 400
7-140753354-TC-AA c.1780_1781delinsTT p.D594F Missense 15/18 - 2
7-140753354-TC-CT c.1780_1781delinsAG p.D594S Missense 15/18 - 1
7-140753354-TC-GT c.1780_1781delinsAC p.D594T Missense 15/18 - 1
7-140753354-T-G c.1781A>C p.D594A Missense 15/18 - 86
7-140753355-C-A c.1780G>T p.D594Y Missense 15/18 - 17
7-140753355-CA-TC c.1779_1780delinsGA p.D594N Missense 15/18 - 1
7-140753355-C-G c.1780G>C p.D594H Missense 15/18 - 62
7-140753355-C-T c.1780G>A p.D594N Missense 15/18 - 299
7-140753355-TC-T c.1780del p.D594Ifs*4 Frameshift 15/18 - 1
7-140753356-A-C c.1779T>G p.G593= Synonymous 15/18 - 1
7-140753356-ACC-CAT c.1777_1779delinsATG p.G593M Missense 15/18 - 1
7-140753356-A-G c.1779T>C p.G593= Synonymous 15/18 - 1
7-140753356-A-T c.1779T>A p.G593= Synonymous 15/18 - 2
7-140753357-C-A c.1778G>T p.G593V Missense 15/18 - 1
7-140753357-CC-AA c.1777_1778delinsTT p.G593F Missense 15/18 - 1
7-140753357-C-T c.1778G>A p.G593D Missense 15/18 - 12
7-140753358-C-A c.1777G>T p.G593C Missense 15/18 - 6
7-140753358-C-G c.1777G>C p.G593R Missense 15/18 - 2
7-140753358-C-T c.1777G>A p.G593S Missense 15/18 - 11
7-140753359-T-A c.1776A>T p.I592= Synonymous 15/18 - 2
7-140753359-T-C c.1776A>G p.I592M Missense 15/18 - 31
7-140753359-T-G c.1776A>C p.I592= Synonymous 15/18 - 1
7-140753358-CTAT-C c.1774_1776del p.I592del InFrameDeletion 15/18 - 1
7-140753360-A-G c.1775T>C p.I592T Missense 15/18 - 2
7-140753360-A-T c.1775T>A p.I592K Missense 15/18 - 1
7-140753360-AT-TA c.1774_1775delinsTA p.I592* Nonsense 15/18 - 1
7-140753361-T-C c.1774A>G p.I592V Missense 15/18 - 25
7-140753362-T-C c.1773A>G p.K591= Synonymous 15/18 - 1
7-140753363-T-C c.1772A>G p.K591R Missense 15/18 - 3
7-140753364-T-C c.1771A>G p.K591E Missense 15/18 - 4
7-140753364-T-G c.1771A>C p.K591Q Missense 15/18 - 2
7-140753360-A-AT c.1774dup p.I592Nfs*3 Frameshift 15/18 - 1
7-140753360-AT-A c.1774del p.I592* Frameshift 15/18 - 2
7-140753365-T-A c.1770A>T p.V590= Synonymous 15/18 - 2
7-140753365-T-C c.1770A>G p.V590= Synonymous 15/18 - 2
7-140753365-T-G c.1770A>C p.V590= Synonymous 15/18 - 2
7-140753366-A-C c.1769T>G p.V590G Missense 15/18 - 1
7-140753366-A-G c.1769T>C p.V590A Missense 15/18 - 4
7-140753366-TA-T c.1769del p.V590Efs*3 Frameshift 15/18 - 2
7-140753367-C-A c.1768G>T p.V590L Missense 15/18 - 2
7-140753367-C-T c.1768G>A p.V590I Missense 15/18 - 9
7-140753368-T-A c.1767A>T p.T589= Synonymous 15/18 - 1
7-140753368-T-C c.1767A>G p.T589= Synonymous 15/18 - 2
7-140753369-G-A c.1766C>T p.T589I Missense 15/18 - 8
7-140753369-G-T c.1766C>A p.T589K Missense 15/18 - 1
7-140753370-T-C c.1765A>G p.T589A Missense 15/18 - 7
7-140753370-T-G c.1765A>C p.T589P Missense 15/18 - 3
7-140753371-G-A c.1764C>T p.L588= Synonymous 15/18 - 3
7-140753371-G-C c.1764C>G p.L588= Synonymous 15/18 - 3
7-140753371-G-T c.1764C>A p.L588= Synonymous 15/18 - 3
7-140753372-A-C c.1763T>G p.L588R Missense 15/18 - 7
7-140753372-A-G c.1763T>C p.L588P Missense 15/18 - 8
7-140753372-AG-TT c.1762_1763delinsAA p.L588N Missense 15/18 - 8
7-140753373-G-A c.1762C>T p.L588F Missense 15/18 - 6
7-140753373-G-T c.1762C>A p.L588I Missense 15/18 - 2
7-140753374-G-A c.1761C>T p.D587= Synonymous 15/18 - 1
7-140753374-G-C c.1761C>G p.D587E Missense 15/18 - 19
7-140753374-G-T c.1761C>A p.D587E Missense 15/18 - 20
7-140753375-T-A c.1760A>T p.D587V Missense 15/18 - 1
7-140753375-T-C c.1760A>G p.D587G Missense 15/18 - 4
7-140753375-T-G c.1760A>C p.D587A Missense 15/18 - 19
7-140753376-C-A c.1759G>T p.D587Y Missense 15/18 - 3
7-140753376-C-G c.1759G>C p.D587H Missense 15/18 - 1
7-140753376-C-T c.1759G>A p.D587N Missense 15/18 - 11
7-140753377-T-C c.1758A>G p.E586= Synonymous 15/18 - 5
7-140753376-CT-C c.1758del p.D587Tfs*4 Frameshift 15/18 - 1
7-140753378-T-A c.1757A>T p.E586V Missense 15/18 - 1
7-140753378-T-C c.1757A>G p.E586G Missense 15/18 - 2
7-140753379-C-A c.1756G>T p.E586* Nonsense 15/18 - 2
7-140753379-C-T c.1756G>A p.E586K Missense 15/18 - 87
7-140753380-A-C c.1755T>G p.H585Q Missense 15/18 - 1
7-140753380-A-G c.1755T>C p.H585= Synonymous 15/18 - 2
7-140753380-A-T c.1755T>A p.H585Q Missense 15/18 - 1
7-140753381-T-C c.1754A>G p.H585R Missense 15/18 - 3
7-140753382-G-A c.1753C>T p.H585Y Missense 15/18 - 9
7-140753382-G-T c.1753C>A p.H585N Missense 15/18 - 3
7-140753383-A-C c.1752T>G p.L584= Synonymous 15/18 - 5
7-140753383-A-G c.1752T>C p.L584= Synonymous 15/18 - 7
7-140753383-A-T c.1752T>A p.L584= Synonymous 15/18 - 5
7-140753384-A-G c.1751T>C p.L584P Missense 15/18 - 4
7-140753384-A-T c.1751T>A p.L584H Missense 15/18 - 1
7-140753385-G-A c.1750C>T p.L584F Missense 15/18 - 41
7-140753385-G-T c.1750C>A p.L584I Missense 15/18 - 6
7-140753386-A-G c.1749T>C p.F583= Synonymous 15/18 - 6
7-140753387-A-C c.1748T>G p.F583C Missense 15/18 - 1
7-140753387-A-G c.1748T>C p.F583S Missense 15/18 - 4
7-140753386-A-C c.1749T>G p.F583L Missense 15/18 - 1
7-140753386-A-T c.1749T>A p.F583L Missense 15/18 - 1
7-140753388-A-G c.1747T>C p.F583L Missense 15/18 - 3
7-140753386-AAATATATCTGAGGTGTAGTAAGTAAAGGAAAACAGTAGATCTCATTTTCCTATCAGAGC-A c.1742-52_1748del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 15/18 14/17 1
7-140753389-T-A c.1746A>T p.I582= Synonymous 15/18 - 1
7-140753389-T-C c.1746A>G p.I582M Missense 15/18 - 12
7-140753390-A-G c.1745T>C p.I582T Missense 15/18 - 2
7-140753390-A-T c.1745T>A p.I582K Missense 15/18 - 1
7-140753391-T-A c.1744A>T p.I582L Missense 15/18 - 2
7-140753391-T-G c.1744A>C p.I582L Missense 15/18 - 1
7-140753392-A-C c.1743T>G p.N581K Missense 15/18 - 8
7-140753392-A-G c.1743T>C p.N581= Synonymous 15/18 - 2
7-140753392-A-T c.1743T>A p.N581K Missense 15/18 - 11
7-140753393-AT-A c.1742del p.N581Ifs*10 Frameshift 15/18 - 1
7-140753393-T-A c.1742A>T p.N581I Missense 15/18 - 96
7-140753393-T-C c.1742A>G p.N581S Missense 15/18 - 200
7-140753393-T-G c.1742A>C p.N581T Missense 15/18 - 40
7-140753400-T-G c.1742-7A>C - IntronicSNV - 14/17 1
7-140753416-A-G c.1742-23T>C - IntronicSNV - 14/17 1
7-140753422-T-C c.1742-29A>G - IntronicSNV - 14/17 1
7-140753422-T-G c.1742-29A>C - IntronicSNV - 14/17 1
7-140753658-G-A c.1742-265C>T - IntronicSNV - 14/17 1
7-140754129-T-C c.1741+58A>G - IntronicSNV - 14/17 1
7-140754129-T-G c.1741+58A>C - IntronicSNV - 14/17 1
7-140754173-T-A c.1741+14A>T - IntronicSNV - 14/17 2
7-140754178-G-A c.1741+9C>T - IntronicSNV - 14/17 1
7-140754178-G-T c.1741+9C>A - IntronicSNV - 14/17 1
7-140754180-A-G c.1741+7T>C - IntronicSNV - 14/17 1
7-140754182-G-A c.1741+5C>T - IntronicSNV - 14/17 1
7-140754186-C-A c.1741+1G>T - IntronicSNV - 14/17 1
7-140754187-T-A c.1741A>T p.N581Y Missense 14/18 - 28
7-140754187-T-C c.1741A>G p.N581D Missense 14/18 - 40
7-140754187-T-G c.1741A>C p.N581H Missense 14/18 - 19
7-140754189-T-A c.1739A>T p.N580I Missense 14/18 - 2
7-140754189-T-C c.1739A>G p.N580S Missense 14/18 - 7
7-140754190-T-C c.1738A>G p.N580D Missense 14/18 - 14
7-140754191-A-C c.1737T>G p.S579R Missense 14/18 - 1
7-140754191-A-T c.1737T>A p.S579R Missense 14/18 - 1
7-140754193-T-G c.1735A>C p.S579R Missense 14/18 - 1
7-140754192-C-A c.1736G>T p.S579I Missense 14/18 - 2
7-140754192-C-G c.1736G>C p.S579T Missense 14/18 - 1
7-140754192-C-T c.1736G>A p.S579N Missense 14/18 - 1
7-140754192-CT-GC c.1735_1736delinsGC p.S579A Missense 14/18 - 2
7-140754192-CT-TC c.1735_1736delinsGA p.S579D Missense 14/18 - 1
7-140754193-T-A c.1735A>T p.S579C Missense 14/18 - 1
7-140754194-C-A c.1734G>T p.K578N Missense 14/18 - 3
7-140754194-C-G c.1734G>C p.K578N Missense 14/18 - 3
7-140754195-T-C c.1733A>G p.K578R Missense 14/18 - 3
7-140754196-T-C c.1732A>G p.K578E Missense 14/18 - 1
7-140754197-G-A c.1731C>T p.L577= Synonymous 14/18 - 1
7-140754197-G-C c.1731C>G p.L577= Synonymous 14/18 - 1
7-140754197-G-T c.1731C>A p.L577= Synonymous 14/18 - 2
7-140754199-G-A c.1729C>T p.L577F Missense 14/18 - 6
7-140754199-G-C c.1729C>G p.L577V Missense 14/18 - 1
7-140754199-G-T c.1729C>A p.L577I Missense 14/18 - 4
7-140754200-G-C c.1728C>G p.D576E Missense 14/18 - 1
7-140754200-G-T c.1728C>A p.D576E Missense 14/18 - 1
7-140754201-T-C c.1727A>G p.D576G Missense 14/18 - 2
7-140754202-C-A c.1726G>T p.D576Y Missense 14/18 - 4
7-140754202-C-G c.1726G>C p.D576H Missense 14/18 - 1
7-140754202-C-T c.1726G>A p.D576N Missense 14/18 - 1
7-140754203-CTCTGTGGATGATTGACTTGGCGTGTAAGTA-C c.1696_1725del p.Y566_R575del SpliceAcceptorDeletion 14/18 - 1
7-140754203-T-A c.1725A>T p.R575S Missense 14/18 - 1
7-140754203-T-C c.1725A>G p.R575= Synonymous 14/18 - 2
7-140754205-T-G c.1723A>C p.R575= Synonymous 14/18 - 1
7-140754204-C-T c.1724G>A p.R575K Missense 14/18 - 8
7-140754204-CT-GC c.1723_1724delinsGC p.R575A Missense 14/18 - 1
7-140754206-G-A c.1722C>T p.H574= Synonymous 14/18 - 1
7-140754206-G-C c.1722C>G p.H574Q Missense 14/18 - 19
7-140754206-G-T c.1722C>A p.H574Q Missense 14/18 - 16
7-140754207-T-A c.1721A>T p.H574L Missense 14/18 - 3
7-140754208-G-A c.1720C>T p.H574Y Missense 14/18 - 9
7-140754208-G-C c.1720C>G p.H574D Missense 14/18 - 2
7-140754208-G-T c.1720C>A p.H574N Missense 14/18 - 8
7-140754209-G-A c.1719C>T p.I573= Synonymous 14/18 - 2
7-140754209-G-T c.1719C>A p.I573= Synonymous 14/18 - 1
7-140754211-T-C c.1717A>G p.I573V Missense 14/18 - 1
7-140754212-G-A c.1716C>T p.I572= Synonymous 14/18 - 1
7-140754213-A-G c.1715T>C p.I572T Missense 14/18 - 1
7-140754214-T-A c.1714A>T p.I572F Missense 14/18 - 2
7-140754214-T-C c.1714A>G p.I572V Missense 14/18 - 2
7-140754215-T-A c.1713A>T p.S571= Synonymous 14/18 - 1
7-140754215-T-C c.1713A>G p.S571= Synonymous 14/18 - 2
7-140754215-T-G c.1713A>C p.S571= Synonymous 14/18 - 1
7-140754216-G-A c.1712C>T p.S571L Missense 14/18 - 1
7-140754216-G-C c.1712C>G p.S571* Nonsense 14/18 - 1
7-140754216-G-T c.1712C>A p.S571* Nonsense 14/18 - 2
7-140754217-A-G c.1711T>C p.S571P Missense 14/18 - 1
7-140754217-A-T c.1711T>A p.S571T Missense 14/18 - 1
7-140754218-C-A c.1710G>T p.K570N Missense 14/18 - 1
7-140754218-C-G c.1710G>C p.K570N Missense 14/18 - 1
7-140754218-C-T c.1710G>A p.K570= Synonymous 14/18 - 3
7-140754219-T-C c.1709A>G p.K570R Missense 14/18 - 2
7-140754220-T-C c.1708A>G p.K570E Missense 14/18 - 1
7-140754222-G-A c.1706C>T p.A569V Missense 14/18 - 2
7-140754222-G-C c.1706C>G p.A569G Missense 14/18 - 1
7-140754222-G-T c.1706C>A p.A569D Missense 14/18 - 2
7-140754223-C-A c.1705G>T p.A569S Missense 14/18 - 1
7-140754223-C-T c.1705G>A p.A569T Missense 14/18 - 4
7-140754224-G-A c.1704C>T p.H568= Synonymous 14/18 - 4
7-140754225-T-A c.1703A>T p.H568L Missense 14/18 - 1
7-140754226-G-A c.1702C>T p.H568Y Missense 14/18 - 1
7-140754226-G-C c.1702C>G p.H568D Missense 14/18 - 5
7-140754227-GTAA-G c.1699_1701del p.L567del InFrameDeletion 14/18 - 1
7-140754227-T-A c.1701A>T p.L567F Missense 14/18 - 1
7-140754228-AA-GG c.1699_1700delinsCC p.L567P Missense 14/18 - 4
7-140754228-AA-TC c.1699_1700delinsGA p.L567E Missense 14/18 - 1
7-140754227-T-C c.1701A>G p.L567= Synonymous 14/18 - 4
7-140754229-A-C c.1699T>G p.L567V Missense 14/18 - 8
7-140754229-A-G c.1699T>C p.L567= Synonymous 14/18 - 3
7-140754229-A-T c.1699T>A p.L567I Missense 14/18 - 1
7-140754230-G-A c.1698C>T p.Y566= Synonymous 14/18 - 1
7-140754231-T-C c.1697A>G p.Y566C Missense 14/18 - 5
7-140754233-A-C c.1695T>G p.D565E Missense 14/18 - 11
7-140754233-A-T c.1695T>A p.D565E Missense 14/18 - 8
7-140754323-A-T c.1695-90T>A - IntronicSNV - 13/17 2
7-140755173-G-A c.1695-940C>T - IntronicSNV - 13/17 3
7-140755173-G-C c.1695-940C>G - IntronicSNV - 13/17 3
7-140755173-G-T c.1695-940C>A - IntronicSNV - 13/17 3
7-140755367-T-C c.1695-1134A>G - IntronicSNV - 13/17 1
7-140755438-C-T c.1695-1205G>A - IntronicSNV - 13/17 1
7-140755748-T-G c.1695-1515A>C - IntronicSNV - 13/17 1
7-140756264-T-A c.1695-2031A>T - IntronicSNV - 13/17 1
7-140756713-A-G c.1695-2480T>C - IntronicSNV - 13/17 1
7-140756716-A-G c.1695-2483T>C - IntronicSNV - 13/17 1
7-140759498-C-T c.1695-5265G>A - IntronicSNV - 13/17 1
7-140759544-G-A c.1695-5311C>T - IntronicSNV - 13/17 1
7-140759884-G-A c.1695-5651C>T - IntronicSNV - 13/17 1
7-140759884-G-T c.1695-5651C>A - IntronicSNV - 13/17 1
7-140760345-A-G c.1695-6112T>C - IntronicSNV - 13/17 1
7-140760369-T-A c.1695-6136A>T - IntronicSNV - 13/17 2
7-140760369-T-C c.1695-6136A>G - IntronicSNV - 13/17 2
7-140760369-T-G c.1695-6136A>C - IntronicSNV - 13/17 2
7-140760472-G-A c.1695-6239C>T - IntronicSNV - 13/17 1
7-140760708-C-CTGAA c.1695-6479_1695-6476dup - IntronicInsertion - 13/17 1
7-140760915-A-G c.1695-6682T>C - IntronicSNV - 13/17 1
7-140760915-A-T c.1695-6682T>A - IntronicSNV - 13/17 1
7-140761685-T-G c.1695-7452A>C - IntronicSNV - 13/17 1
7-140761817-C-T c.1695-7584G>A - IntronicSNV - 13/17 1
7-140762247-A-G c.1695-8014T>C - IntronicSNV - 13/17 1
7-140763136-C-T c.1695-8903G>A - IntronicSNV - 13/17 1
7-140763287-T-TG c.1695-9055dup - IntronicInsertion - 13/17 1
7-140763289-A-C c.1695-9056T>G - IntronicSNV - 13/17 1
7-140763361-C-T c.1695-9128G>A - IntronicSNV - 13/17 1
7-140763497-T-C c.1695-9264A>G - IntronicSNV - 13/17 1
7-140763508-C-G c.1695-9275G>C - IntronicSNV - 13/17 1
7-140763905-C-T c.1695-9672G>A - IntronicSNV - 13/17 1
7-140764679-G-A c.1695-10446C>T - IntronicSNV - 13/17 1
7-140764709-G-C c.1695-10476C>G - IntronicSNV - 13/17 1
7-140765023-G-C c.1695-10790C>G - IntronicSNV - 13/17 1
7-140765214-A-C c.1695-10981T>G - IntronicSNV - 13/17 1
7-140766517-A-G c.1694+10395T>C - IntronicSNV - 13/17 1
7-140766650-T-C c.1694+10262A>G - IntronicSNV - 13/17 1
7-140766769-C-A c.1694+10143G>T - IntronicSNV - 13/17 1
7-140767129-CAAGTAGCTGGGACCACAGGCACAGACCACCACGCCTGGCTAATTTTTGTATTTTTTGGT-C c.1694+9725_1694+9783del - IntronicDeletion - 13/17 1
7-140767295-T-C c.1694+9617A>G - IntronicSNV - 13/17 1
7-140767630-A-G c.1694+9282T>C - IntronicSNV - 13/17 1
7-140767746-C-T c.1694+9166G>A - IntronicSNV - 13/17 1
7-140767894-G-A c.1694+9018C>T - IntronicSNV - 13/17 1
7-140768176-T-C c.1694+8736A>G - IntronicSNV - 13/17 1
7-140769243-A-AT c.1694+7668dup - IntronicInsertion - 13/17 1
7-140769896-T-C c.1694+7016A>G - IntronicSNV - 13/17 1
7-140769957-G-C c.1694+6955C>G - IntronicSNV - 13/17 1
7-140770793-T-C c.1694+6119A>G - IntronicSNV - 13/17 1
7-140770983-C-T c.1694+5929G>A - IntronicSNV - 13/17 1
7-140772690-G-T c.1694+4222C>A - IntronicSNV - 13/17 1
7-140773538-A-C c.1694+3374T>G - IntronicSNV - 13/17 1
7-140773538-A-G c.1694+3374T>C - IntronicSNV - 13/17 1
7-140773646-T-C c.1694+3266A>G - IntronicSNV - 13/17 1
7-140773899-T-C c.1694+3013A>G - IntronicSNV - 13/17 1
7-140773972-G-A c.1694+2940C>T - IntronicSNV - 13/17 1
7-140774259-G-A c.1694+2653C>T - IntronicSNV - 13/17 1
7-140774582-T-C c.1694+2330A>G - IntronicSNV - 13/17 1
7-140775094-C-T c.1694+1818G>A - IntronicSNV - 13/17 1
7-140775567-G-A c.1694+1345C>T - IntronicSNV - 13/17 1
7-140775584-C-CT c.1694+1327dup - IntronicInsertion - 13/17 1
7-140775666-G-A c.1694+1246C>T - IntronicSNV - 13/17 1
7-140776146-A-C c.1694+766T>G - IntronicSNV - 13/17 1
7-140776301-G-C c.1694+611C>G - IntronicSNV - 13/17 1
7-140776670-T-A c.1694+242A>T - IntronicSNV - 13/17 1
7-140776838-G-T c.1694+74C>A - IntronicSNV - 13/17 1
7-140776898-C-T c.1694+14G>A - IntronicSNV - 13/17 1
7-140776899-G-A c.1694+13C>T - IntronicSNV - 13/17 1
7-140776909-T-C c.1694+3A>G - IntronicSNV - 13/17 1
7-140776911-C-A c.1694+1G>T - IntronicSNV - 13/17 1
7-140776911-C-T c.1694+1G>A - IntronicSNV - 13/17 3
7-140776911-C-CT c.1694dup p.D565Efs*16 SpliceDonorInsertion 13/18 - 1
7-140776912-T-C c.1694A>G p.D565G Missense 13/18 - 2
7-140776912-T-G c.1694A>C p.D565A Missense 13/18 - 1
7-140776913-C-A c.1693G>T p.D565Y Missense 13/18 - 1
7-140776913-C-G c.1693G>C p.D565H Missense 13/18 - 1
7-140776913-C-T c.1693G>A p.D565N Missense 13/18 - 3
7-140776914-C-A c.1692G>T p.M564I Missense 13/18 - 1
7-140776914-C-T c.1692G>A p.M564I Missense 13/18 - 1
7-140776915-A-G c.1691T>C p.M564T Missense 13/18 - 1
7-140776916-T-A c.1690A>T p.M564L Missense 13/18 - 1
7-140776916-T-C c.1690A>G p.M564V Missense 13/18 - 5
7-140776917-G-A c.1689C>T p.G563= Synonymous 13/18 - 1
7-140776917-G-C c.1689C>G p.G563= Synonymous 13/18 - 1
7-140776917-G-T c.1689C>A p.G563= Synonymous 13/18 - 1
7-140776918-C-A c.1688G>T p.G563V Missense 13/18 - 2
7-140776918-C-T c.1688G>A p.G563D Missense 13/18 - 4
7-140776919-C-A c.1687G>T p.G563C Missense 13/18 - 5
7-140776919-C-G c.1687G>C p.G563R Missense 13/18 - 1
7-140776920-C-A c.1686G>T p.Q562H Missense 13/18 - 1
7-140776920-C-T c.1686G>A p.Q562= Synonymous 13/18 - 1
7-140776920-CTG-GTT c.1684_1686delinsAAC p.Q562N Missense 13/18 - 1
7-140776921-T-A c.1685A>T p.Q562L Missense 13/18 - 1
7-140776921-T-C c.1685A>G p.Q562R Missense 13/18 - 8
7-140776922-G-A c.1684C>T p.Q562* Nonsense 13/18 - 2
7-140776922-G-C c.1684C>G p.Q562E Missense 13/18 - 1
7-140776924-G-A c.1682C>T p.A561V Missense 13/18 - 2
7-140776924-G-T c.1682C>A p.A561E Missense 13/18 - 2
7-140776925-C-A c.1681G>T p.A561S Missense 13/18 - 1
7-140776925-C-T c.1681G>A p.A561T Missense 13/18 - 2
7-140776926-A-G c.1680T>C p.T560= Synonymous 13/18 - 1
7-140776929-C-A c.1677G>T p.Q559H Missense 13/18 - 1
7-140776930-T-C c.1676A>G p.Q559R Missense 13/18 - 2
7-140776931-G-A c.1675C>T p.Q559* Nonsense 13/18 - 2
7-140776932-GTCGTGCAATATCTAT-G c.1660_1674del p.I554_R558del InFrameDeletion 13/18 - 1
7-140776932-TC-AT c.1673_1674delinsAT p.R558H Missense 13/18 - 2
7-140776932-TCG-ACA c.1672_1674delinsTGT p.R558C Missense 13/18 - 1
7-140776933-C-A c.1673G>T p.R558L Missense 13/18 - 2
7-140776933-C-T c.1673G>A p.R558Q Missense 13/18 - 4
7-140776934-G-A c.1672C>T p.R558* Nonsense 13/18 - 3
7-140776935-T-A c.1671A>T p.A557= Synonymous 13/18 - 1
7-140776935-T-C c.1671A>G p.A557= Synonymous 13/18 - 1
7-140776936-G-A c.1670C>T p.A557V Missense 13/18 - 1
7-140776936-G-C c.1670C>G p.A557G Missense 13/18 - 1
7-140776936-TGCAATATCTATAAGTTTG-T c.1653_1670del p.K552_A557del InFrameDeletion 13/18 - 1
7-140776937-C-A c.1669G>T p.A557S Missense 13/18 - 1
7-140776937-C-G c.1669G>C p.A557P Missense 13/18 - 1
7-140776937-C-T c.1669G>A p.A557T Missense 13/18 - 1
7-140776936-GCAATAT-G c.1664_1669del p.D555_I556del InFrameDeletion 13/18 - 1
7-140776939-A-G c.1667T>C p.I556T Missense 13/18 - 6
7-140776940-T-C c.1666A>G p.I556V Missense 13/18 - 2
7-140776941-A-C c.1665T>G p.D555E Missense 13/18 - 2
7-140776941-A-T c.1665T>A p.D555E Missense 13/18 - 1
7-140776942-T-A c.1664A>T p.D555V Missense 13/18 - 1
7-140776942-T-C c.1664A>G p.D555G Missense 13/18 - 1
7-140776943-C-A c.1663G>T p.D555Y Missense 13/18 - 3
7-140776943-C-T c.1663G>A p.D555N Missense 13/18 - 2
7-140776944-TAT-GCTATAAAG c.1660_1662delinsCTTTATAGC p.I554delinsLYS MultiAAMissense 13/18 - 1
7-140776944-T-C c.1662A>G p.I554M Missense 13/18 - 1
7-140776945-A-G c.1661T>C p.I554T Missense 13/18 - 11
7-140776945-A-T c.1661T>A p.I554K Missense 13/18 - 1
7-140776948-AAGTTTGAT-A c.1651_1658del p.I551Yfs*27 Frameshift 13/18 - 1
7-140776948-A-C c.1658T>G p.L553R Missense 13/18 - 2
7-140776948-A-T c.1658T>A p.L553H Missense 13/18 - 1
7-140776949-G-A c.1657C>T p.L553F Missense 13/18 - 1
7-140776949-G-C c.1657C>G p.L553V Missense 13/18 - 1
7-140776949-G-T c.1657C>A p.L553I Missense 13/18 - 1
7-140776950-T-A c.1656A>T p.K552N Missense 13/18 - 1
7-140776951-T-A c.1655A>T p.K552I Missense 13/18 - 1
7-140776953-G-A c.1653C>T p.I551= Synonymous 13/18 - 2
7-140776953-GA-CT c.1652_1653delinsAG p.I551K Missense 13/18 - 7
7-140776953-G-T c.1653C>A p.I551= Synonymous 13/18 - 1
7-140776954-A-G c.1652T>C p.I551T Missense 13/18 - 1
7-140776954-A-T c.1652T>A p.I551N Missense 13/18 - 1
7-140776955-T-C c.1651A>G p.I551V Missense 13/18 - 2
7-140776956-C-A c.1650G>T p.M550I Missense 13/18 - 6
7-140776956-C-G c.1650G>C p.M550I Missense 13/18 - 5
7-140776956-C-T c.1650G>A p.M550I Missense 13/18 - 5
7-140776958-T-A c.1648A>T p.M550L Missense 13/18 - 1
7-140776958-T-G c.1648A>C p.M550L Missense 13/18 - 2
7-140776959-C-A c.1647G>T p.E549D Missense 13/18 - 3
7-140776959-C-G c.1647G>C p.E549D Missense 13/18 - 1
7-140776959-TC-T c.1647del p.M550* Frameshift 13/18 - 1
7-140776960-T-C c.1646A>G p.E549G Missense 13/18 - 2
7-140776961-C-A c.1645G>T p.E549* Nonsense 13/18 - 1
7-140776961-C-G c.1645G>C p.E549Q Missense 13/18 - 6
7-140776961-C-T c.1645G>A p.E549K Missense 13/18 - 2
7-140776963-A-G c.1643T>C p.F548S Missense 13/18 - 1
7-140776963-A-T c.1643T>A p.F548Y Missense 13/18 - 1
7-140776962-A-C c.1644T>G p.F548L Missense 13/18 - 1
7-140776962-A-T c.1644T>A p.F548L Missense 13/18 - 1
7-140776964-A-G c.1642T>C p.F548L Missense 13/18 - 2
7-140776965-T-A c.1641A>T p.K547N Missense 13/18 - 1
7-140776965-T-G c.1641A>C p.K547N Missense 13/18 - 1
7-140776965-TTT-ACA c.1639_1641delinsTGT p.K547C Missense 13/18 - 1
7-140776966-T-C c.1640A>G p.K547R Missense 13/18 - 1
7-140776966-T-G c.1640A>C p.K547T Missense 13/18 - 1
7-140776967-T-C c.1639A>G p.K547E Missense 13/18 - 1
7-140776968-G-A c.1638C>T p.T546= Synonymous 13/18 - 1
7-140776968-G-C c.1638C>G p.T546= Synonymous 13/18 - 1
7-140776968-GG-CA c.1637_1638delinsTG p.T546M Missense 13/18 - 2
7-140776968-G-T c.1638C>A p.T546= Synonymous 13/18 - 1
7-140776969-G-T c.1637C>A p.T546N Missense 13/18 - 1
7-140776970-T-C c.1636A>G p.T546A Missense 13/18 - 7
7-140776971-C-A c.1635G>T p.E545D Missense 13/18 - 5
7-140776971-C-G c.1635G>C p.E545D Missense 13/18 - 4
7-140776971-C-T c.1635G>A p.E545= Synonymous 13/18 - 1
7-140776972-T-A c.1634A>T p.E545V Missense 13/18 - 1
7-140776972-T-C c.1634A>G p.E545G Missense 13/18 - 10
7-140776972-TC-GT c.1633_1634delinsAC p.E545T Missense 13/18 - 1
7-140776972-T-G c.1634A>C p.E545A Missense 13/18 - 11
7-140776973-C-A c.1633G>T p.E545* Nonsense 13/18 - 4
7-140776973-C-G c.1633G>C p.E545Q Missense 13/18 - 9
7-140776973-C-T c.1633G>A p.E545K Missense 13/18 - 77
7-140776975-A-C c.1631T>G p.I544S Missense 13/18 - 8
7-140776975-A-G c.1631T>C p.I544T Missense 13/18 - 2
7-140776976-T-C c.1630A>G p.I544V Missense 13/18 - 1
7-140776977-G-A c.1629C>T p.I543= Synonymous 13/18 - 2
7-140776977-G-T c.1629C>A p.I543= Synonymous 13/18 - 2
7-140776978-A-T c.1628T>A p.I543N Missense 13/18 - 1
7-140776978-AT-GC c.1627_1628delinsGC p.I543A Missense 13/18 - 8
7-140776979-T-C c.1627A>G p.I543V Missense 13/18 - 1
7-140776980-A-G c.1626T>C p.H542= Synonymous 13/18 - 1
7-140776980-A-T c.1626T>A p.H542Q Missense 13/18 - 1
7-140776981-TG-GC c.1624_1625delinsGC p.H542A Missense 13/18 - 1
7-140776982-G-A c.1624C>T p.H542Y Missense 13/18 - 9
7-140776983-GAG-CAT c.1621_1623delinsATG p.L541M Missense 13/18 - 1
7-140776986-A-C c.1620T>G p.H540Q Missense 13/18 - 5
7-140776986-A-G c.1620T>C p.H540= Synonymous 13/18 - 1
7-140776986-A-T c.1620T>A p.H540Q Missense 13/18 - 3
7-140776987-T-C c.1619A>G p.H540R Missense 13/18 - 1
7-140776988-G-A c.1618C>T p.H540Y Missense 13/18 - 1
7-140776988-G-T c.1618C>A p.H540N Missense 13/18 - 1
7-140776989-G-A c.1617C>T p.H539= Synonymous 13/18 - 1
7-140776989-G-T c.1617C>A p.H539Q Missense 13/18 - 1
7-140776990-T-G c.1616A>C p.H539P Missense 13/18 - 3
7-140776991-G-A c.1615C>T p.H539Y Missense 13/18 - 3
7-140776991-G-T c.1615C>A p.H539N Missense 13/18 - 2
7-140776991-TG-T c.1615del p.H539Tfs*12 Frameshift 13/18 - 1
7-140776994-A-G c.1612T>C p.Y538H Missense 13/18 - 3
7-140776994-A-T c.1612T>A p.Y538N Missense 13/18 - 1
7-140776995-C-A c.1611G>T p.L537F Missense 13/18 - 1
7-140776996-A-G c.1610T>C p.L537S Missense 13/18 - 21
7-140776995-C-T c.1611G>A p.L537= Synonymous 13/18 - 1
7-140776997-A-G c.1609T>C p.L537= Synonymous 13/18 - 2
7-140776997-A-T c.1609T>A p.L537M Missense 13/18 - 1
7-140776998-G-T c.1608C>A p.S536R Missense 13/18 - 1
7-140776999-C-A c.1607G>T p.S536I Missense 13/18 - 1
7-140776999-C-G c.1607G>C p.S536T Missense 13/18 - 1
7-140776999-CT-GG c.1606_1607delinsCC p.S536P Missense 13/18 - 1
7-140777001-G-A c.1605C>T p.S535= Synonymous 13/18 - 1
7-140777002-G-A c.1604C>T p.S535F Missense 13/18 - 4
7-140777002-GA-AG c.1603_1604delinsCT p.S535L Missense 13/18 - 1
7-140777002-G-C c.1604C>G p.S535C Missense 13/18 - 1
7-140777003-A-G c.1603T>C p.S535P Missense 13/18 - 1
7-140777004-G-A c.1602C>T p.G534= Synonymous 13/18 - 4
7-140777004-G-C c.1602C>G p.G534= Synonymous 13/18 - 2
7-140777004-GC-CT c.1601_1602delinsAG p.G534E Missense 13/18 - 1
7-140777004-G-T c.1602C>A p.G534= Synonymous 13/18 - 2
7-140777005-C-A c.1601G>T p.G534V Missense 13/18 - 1
7-140777005-C-T c.1601G>A p.G534D Missense 13/18 - 2
7-140777006-C-A c.1600G>T p.G534C Missense 13/18 - 1
7-140777006-C-G c.1600G>C p.G534R Missense 13/18 - 15
7-140777007-C-A c.1599G>T p.E533D Missense 13/18 - 2
7-140777007-C-G c.1599G>C p.E533D Missense 13/18 - 1
7-140777007-C-T c.1599G>A p.E533= Synonymous 13/18 - 1
7-140777008-T-C c.1598A>G p.E533G Missense 13/18 - 2
7-140777009-C-A c.1597G>T p.E533* Nonsense 13/18 - 1
7-140777009-C-T c.1597G>A p.E533K Missense 13/18 - 5
7-140777009-TCAC-T c.1595_1597del p.C532_E533delins* MultiAAMissense 13/18 - 1
7-140777011-AC-A c.1595del p.C532Lfs*19 Frameshift 13/18 - 1
7-140777011-C-A c.1595G>T p.C532F Missense 13/18 - 3
7-140777011-CA-GC c.1594_1595delinsGC p.C532A Missense 13/18 - 1
7-140777011-C-T c.1595G>A p.C532Y Missense 13/18 - 15
7-140777012-A-G c.1594T>C p.C532R Missense 13/18 - 1
7-140777013-C-A c.1593G>T p.W531C Missense 13/18 - 19
7-140777013-C-G c.1593G>C p.W531C Missense 13/18 - 22
7-140777013-C-T c.1593G>A p.W531* Nonsense 13/18 - 2
7-140777014-C-A c.1592G>T p.W531L Missense 13/18 - 10
7-140777014-C-G c.1592G>C p.W531S Missense 13/18 - 2
7-140777014-C-T c.1592G>A p.W531* Nonsense 13/18 - 2
7-140777015-A-G c.1591T>C p.W531R Missense 13/18 - 2
7-140777015-A-T c.1591T>A p.W531R Missense 13/18 - 7
7-140777016-C-A c.1590G>T p.Q530H Missense 13/18 - 1
7-140777016-CTG-GTC c.1588_1590delinsGAC p.Q530D Missense 13/18 - 1
7-140777017-T-C c.1589A>G p.Q530R Missense 13/18 - 1
7-140777018-G-A c.1588C>T p.Q530* Nonsense 13/18 - 2
7-140777018-G-T c.1588C>A p.Q530K Missense 13/18 - 2
7-140777019-G-A c.1587C>T p.T529= Synonymous 13/18 - 2
7-140777019-GG-CA c.1586_1587delinsTG p.T529M Missense 13/18 - 5
7-140777019-GGT-CTC c.1585_1587delinsGAG p.T529E Missense 13/18 - 1
7-140777019-G-T c.1587C>A p.T529= Synonymous 13/18 - 1
7-140777020-G-A c.1586C>T p.T529I Missense 13/18 - 5
7-140777020-G-T c.1586C>A p.T529N Missense 13/18 - 11
7-140777021-T-A c.1585A>T p.T529S Missense 13/18 - 1
7-140777021-T-C c.1585A>G p.T529A Missense 13/18 - 5
7-140777022-A-G c.1584T>C p.V528= Synonymous 13/18 - 1
7-140777023-A-G c.1583T>C p.V528A Missense 13/18 - 4
7-140777024-C-A c.1582G>T p.V528F Missense 13/18 - 2
7-140777024-C-G c.1582G>C p.V528L Missense 13/18 - 1
7-140777024-C-T c.1582G>A p.V528I Missense 13/18 - 3
7-140777025-AAT-TTG c.1579_1581delinsCAA p.I527Q Missense 13/18 - 1
7-140777029-G-A c.1577C>T p.A526V Missense 13/18 - 2
7-140777030-C-A c.1576G>T p.A526S Missense 13/18 - 1
7-140777030-C-T c.1576G>A p.A526T Missense 13/18 - 1
7-140777031-C-A c.1575G>T p.L525= Synonymous 13/18 - 1
7-140777031-CAG-ACA c.1573_1575delinsTGT p.L525C Missense 13/18 - 1
7-140777031-CAG-ATA c.1573_1575delinsTAT p.L525Y Missense 13/18 - 1
7-140777031-CAG-GTC c.1573_1575delinsGAC p.L525D Missense 13/18 - 1
7-140777031-CAG-GTT c.1573_1575delinsAAC p.L525N Missense 13/18 - 1
7-140777033-G-A c.1573C>T p.L525= Synonymous 13/18 - 1
7-140777032-A-C c.1574T>G p.L525R Missense 13/18 - 13
7-140777032-A-G c.1574T>C p.L525P Missense 13/18 - 13
7-140777032-AG-TC c.1573_1574delinsGA p.L525E Missense 13/18 - 1
7-140777032-A-T c.1574T>A p.L525Q Missense 13/18 - 5
7-140777033-G-C c.1573C>G p.L525V Missense 13/18 - 1
7-140777034-T-A c.1572A>T p.Q524H Missense 13/18 - 1
7-140777034-T-G c.1572A>C p.Q524H Missense 13/18 - 1
7-140777035-T-A c.1571A>T p.Q524L Missense 13/18 - 7
7-140777035-T-C c.1571A>G p.Q524R Missense 13/18 - 1
7-140777036-G-A c.1570C>T p.Q524* Nonsense 13/18 - 1
7-140777038-G-A c.1568C>T p.P523L Missense 13/18 - 1
7-140777038-G-T c.1568C>A p.P523Q Missense 13/18 - 2
7-140777039-G-A c.1567C>T p.P523S Missense 13/18 - 3
7-140777040-C-A c.1566G>T p.K522N Missense 13/18 - 1
7-140777041-T-A c.1565A>T p.K522M Missense 13/18 - 1
7-140777041-T-C c.1565A>G p.K522R Missense 13/18 - 1
7-140777041-T-G c.1565A>C p.K522T Missense 13/18 - 1
7-140777043-TGT-ACA c.1561_1563inv p.T521C Missense 13/18 - 2
7-140777044-G-T c.1562C>A p.T521K Missense 13/18 - 2
7-140777045-T-A c.1561A>T p.T521S Missense 13/18 - 1
7-140777045-T-C c.1561A>G p.T521A Missense 13/18 - 1
7-140777046-G-A c.1560C>T p.S520= Synonymous 13/18 - 3
7-140777046-G-C c.1560C>G p.S520= Synonymous 13/18 - 2
7-140777046-G-T c.1560C>A p.S520= Synonymous 13/18 - 2
7-140777049-A-G c.1557T>C p.Y519= Synonymous 13/18 - 1
7-140777051-A-G c.1555T>C p.Y519H Missense 13/18 - 1
7-140777052-G-A c.1554C>T p.G518= Synonymous 13/18 - 1
7-140777052-G-C c.1554C>G p.G518= Synonymous 13/18 - 1
7-140777053-C-A c.1553G>T p.G518V Missense 13/18 - 1
7-140777053-CC-AG c.1552_1553delinsCT p.G518L Missense 13/18 - 1
7-140777053-C-G c.1553G>C p.G518A Missense 13/18 - 1
7-140777053-C-T c.1553G>A p.G518D Missense 13/18 - 5
7-140777054-C-A c.1552G>T p.G518C Missense 13/18 - 5
7-140777054-C-T c.1552G>A p.G518S Missense 13/18 - 2
7-140777055-C-A c.1551G>T p.M517I Missense 13/18 - 2
7-140777055-C-G c.1551G>C p.M517I Missense 13/18 - 1
7-140777055-C-T c.1551G>A p.M517I Missense 13/18 - 1
7-140777056-AT-CA c.1549_1550delinsTG p.M517W Missense 13/18 - 3
7-140777056-AT-GC c.1549_1550delinsGC p.M517A Missense 13/18 - 1
7-140777057-T-A c.1549A>T p.M517L Missense 13/18 - 1
7-140777057-T-C c.1549A>G p.M517V Missense 13/18 - 4
7-140777058-G-A c.1548C>T p.F516= Synonymous 13/18 - 1
7-140777059-AA-CC c.1546_1547delinsGG p.F516G Missense 13/18 - 1
7-140777059-AA-GC c.1546_1547delinsGC p.F516A Missense 13/18 - 2
7-140777059-AA-TC c.1546_1547delinsGA p.F516D Missense 13/18 - 1
7-140777059-A-C c.1547T>G p.F516C Missense 13/18 - 1
7-140777059-A-G c.1547T>C p.F516S Missense 13/18 - 1
7-140777058-G-C c.1548C>G p.F516L Missense 13/18 - 2
7-140777058-G-T c.1548C>A p.F516L Missense 13/18 - 2
7-140777060-A-G c.1546T>C p.F516L Missense 13/18 - 3
7-140777061-G-A c.1545C>T p.L515= Synonymous 13/18 - 2
7-140777061-G-C c.1545C>G p.L515= Synonymous 13/18 - 1
7-140777061-G-T c.1545C>A p.L515= Synonymous 13/18 - 2
7-140777062-A-G c.1544T>C p.L515P Missense 13/18 - 2
7-140777062-AG-CC c.1543_1544delinsGG p.L515G Missense 13/18 - 3
7-140777062-A-T c.1544T>A p.L515H Missense 13/18 - 1
7-140777063-G-T c.1543C>A p.L515I Missense 13/18 - 2
7-140777065-A-G c.1541T>C p.L514P Missense 13/18 - 3
7-140777065-AG-GC c.1540_1541delinsGC p.L514A Missense 13/18 - 2
7-140777065-AG-TT c.1540_1541delinsAA p.L514K Missense 13/18 - 1
7-140777066-G-A c.1540C>T p.L514= Synonymous 13/18 - 1
7-140777066-G-C c.1540C>G p.L514V Missense 13/18 - 10
7-140777066-G-T c.1540C>A p.L514I Missense 13/18 - 4
7-140777067-GAT-CTC c.1537_1539delinsGAG p.I513E Missense 13/18 - 1
7-140777068-AT-GC c.1537_1538delinsGC p.I513A Missense 13/18 - 1
7-140777071-T-C c.1535A>G p.N512S Missense 13/18 - 1
7-140777071-TT-GC c.1534_1535delinsGC p.N512A Missense 13/18 - 1
7-140777072-T-C c.1534A>G p.N512D Missense 13/18 - 2
7-140777073-C-A c.1533G>T p.V511= Synonymous 13/18 - 1
7-140777073-CAC-ACA c.1531_1533delinsTGT p.V511C Missense 13/18 - 1
7-140777074-AC-TA c.1531_1532delinsTA p.V511* Nonsense 13/18 - 1
7-140777074-A-G c.1532T>C p.V511A Missense 13/18 - 4
7-140777075-ACATGTC-A c.1526_1531del p.R509_V511delinsL MultiAAMissense 13/18 - 1
7-140777075-C-A c.1531G>T p.V511L Missense 13/18 - 2
7-140777075-C-G c.1531G>C p.V511L Missense 13/18 - 1
7-140777075-C-T c.1531G>A p.V511M Missense 13/18 - 1
7-140777076-A-T c.1530T>A p.H510Q Missense 13/18 - 1
7-140777076-CATG-C c.1528_1530del p.H510del InFrameDeletion 13/18 - 1
7-140777077-T-A c.1529A>T p.H510L Missense 13/18 - 1
7-140777077-TG-AA c.1528_1529delinsTT p.H510F Missense 13/18 - 1
7-140777077-TG-GC c.1528_1529delinsGC p.H510A Missense 13/18 - 4
7-140777078-G-T c.1528C>A p.H510N Missense 13/18 - 1
7-140777079-TC-AT c.1526_1527delinsAT p.R509H Missense 13/18 - 54
7-140777079-TCG-ACA c.1525_1527delinsTGT p.R509C Missense 13/18 - 1
7-140777080-C-A c.1526G>T p.R509L Missense 13/18 - 5
7-140777080-C-G c.1526G>C p.R509P Missense 13/18 - 2
7-140777080-CG-GC c.1525_1526delinsGC p.R509A Missense 13/18 - 3
7-140777080-C-T c.1526G>A p.R509Q Missense 13/18 - 7
7-140777081-G-A c.1525C>T p.R509* Nonsense 13/18 - 13
7-140777081-G-C c.1525C>G p.R509G Missense 13/18 - 1
7-140777082-T-G c.1524A>C p.T508= Synonymous 13/18 - 1
7-140777082-TGT-GTC c.1522_1524delinsGAC p.T508D Missense 13/18 - 1
7-140777083-G-A c.1523C>T p.T508I Missense 13/18 - 2
7-140777083-G-T c.1523C>A p.T508K Missense 13/18 - 1
7-140777084-T-C c.1522A>G p.T508A Missense 13/18 - 7
7-140777085-T-A c.1521A>T p.K507N Missense 13/18 - 1
7-140777085-T-G c.1521A>C p.K507N Missense 13/18 - 1
7-140777086-T-C c.1520A>G p.K507R Missense 13/18 - 2
7-140777086-TT-GC c.1519_1520delinsGC p.K507A Missense 13/18 - 2
7-140777087-T-C c.1519A>G p.K507E Missense 13/18 - 1
7-140777087-T-G c.1519A>C p.K507Q Missense 13/18 - 1
7-140777087-T-TAAG c.1518_1519insCTT p.R506_K507insL InFrameInsertion 13/18 - 1
7-140777088-C-G c.1518G>C p.R506S Missense 13/18 - 1
7-140777124-C-A c.1518-36G>T - IntronicSNV - 12/17 1
7-140777124-C-T c.1518-36G>A - IntronicSNV - 12/17 1
7-140777136-G-A c.1518-48C>T - IntronicSNV - 12/17 9
7-140777205-T-A c.1518-117A>T - IntronicSNV - 12/17 1
7-140777205-T-C c.1518-117A>G - IntronicSNV - 12/17 1
7-140777206-A-T c.1518-118T>A - IntronicSNV - 12/17 3
7-140777730-G-C c.1517+261C>G - IntronicSNV - 12/17 1
7-140777927-T-C c.1517+64A>G - IntronicSNV - 12/17 4
7-140777956-C-G c.1517+35G>C - IntronicSNV - 12/17 6
7-140777971-A-G c.1517+20T>C - IntronicSNV - 12/17 2
7-140777984-A-G c.1517+7T>C - IntronicSNV - 12/17 1
7-140777987-TCAC-T c.1517+1_1517+3del - SpliceDonorDeletion 12/18 12/17 1
7-140777989-A-C c.1517+2T>G - IntronicSNV - 12/17 1
7-140777989-A-T c.1517+2T>A - IntronicSNV - 12/17 1
7-140777990-C-A c.1517+1G>T - IntronicSNV - 12/17 2
7-140777990-C-T c.1517+1G>A - IntronicSNV - 12/17 1
7-140777989-AC-A c.1517+1del - IntronicDeletion 12/18 - 1
7-140777991-C-A c.1517G>T p.R506M Missense 12/18 - 2
7-140777991-C-T c.1517G>A p.R506K Missense 12/18 - 4
7-140777991-CT-AG c.1516_1517inv p.R506L Missense 12/18 - 1
7-140777991-CT-GC c.1516_1517delinsGC p.R506A Missense 12/18 - 3
7-140777991-CT-TC c.1516_1517delinsGA p.R506E Missense 12/18 - 1
7-140777991-CT-TG c.1516_1517delinsCA p.R506Q Missense 12/18 - 4
7-140777992-T-A c.1516A>T p.R506W Missense 12/18 - 3
7-140777992-T-C c.1516A>G p.R506G Missense 12/18 - 3
7-140777993-G-A c.1515C>T p.L505= Synonymous 12/18 - 1
7-140777993-GAG-CAT c.1513_1515delinsATG p.L505M Missense 12/18 - 3
7-140777994-A-G c.1514T>C p.L505P Missense 12/18 - 2
7-140777994-AG-CA c.1513_1514delinsTG p.L505C Missense 12/18 - 1
7-140777994-AG-GC c.1513_1514delinsGC p.L505A Missense 12/18 - 1
7-140777994-A-T c.1514T>A p.L505H Missense 12/18 - 40
7-140777995-G-A c.1513C>T p.L505F Missense 12/18 - 20
7-140777995-G-T c.1513C>A p.L505I Missense 12/18 - 2
7-140777996-T-A c.1512A>T p.V504= Synonymous 12/18 - 1
7-140777996-T-C c.1512A>G p.V504= Synonymous 12/18 - 1
7-140777996-T-G c.1512A>C p.V504= Synonymous 12/18 - 1
7-140777991-C-CTGAGTAACG c.1516_1517insCGTTACTCA p.L505_R506insTLL SpliceDonorInsertion 12/18 - 1
7-140777993-G-GAGTACCTGA c.1514_1515insTCAGGTACT p.L505_R506insQVL InFrameInsertion 12/18 - 1
7-140777997-A-ACATAGG c.1510_1511insCCTATG p.G503_V504insAY InFrameInsertion 12/18 - 1
7-140777998-C-A c.1510G>T p.V504L Missense 12/18 - 2
7-140777998-C-T c.1510G>A p.V504I Missense 12/18 - 3
7-140777999-T-A c.1509A>T p.G503= Synonymous 12/18 - 1
7-140777999-T-C c.1509A>G p.G503= Synonymous 12/18 - 2
7-140777999-TCC-GCT c.1507_1509delinsAGC p.G503S Missense 12/18 - 1
7-140777999-T-G c.1509A>C p.G503= Synonymous 12/18 - 1
7-140778000-C-A c.1508G>T p.G503V Missense 12/18 - 3
7-140778000-C-G c.1508G>C p.G503A Missense 12/18 - 1
7-140778000-C-T c.1508G>A p.G503E Missense 12/18 - 4
7-140778000-TCCTAC-T c.1504_1508del p.V502Sfs*30 Frameshift 12/18 - 1
7-140778001-C-A c.1507G>T p.G503* Nonsense 12/18 - 1
7-140778001-C-G c.1507G>C p.G503R Missense 12/18 - 5
7-140778001-C-T c.1507G>A p.G503R Missense 12/18 - 5
7-140778002-T-C c.1506A>G p.V502= Synonymous 12/18 - 1
7-140778003-A-G c.1505T>C p.V502A Missense 12/18 - 1
7-140778003-A-T c.1505T>A p.V502E Missense 12/18 - 1
7-140778004-C-A c.1504G>T p.V502L Missense 12/18 - 1
7-140778005-T-A c.1503A>T p.E501D Missense 12/18 - 1
7-140778006-T-A c.1502A>T p.E501V Missense 12/18 - 9
7-140778006-T-C c.1502A>G p.E501G Missense 12/18 - 26
7-140778006-T-G c.1502A>C p.E501A Missense 12/18 - 9
7-140778007-C-A c.1501G>T p.E501* Nonsense 12/18 - 3
7-140778007-C-G c.1501G>C p.E501Q Missense 12/18 - 5
7-140778007-C-T c.1501G>A p.E501K Missense 12/18 - 46
7-140778011-T-A c.1497A>T p.K499N Missense 12/18 - 17
7-140778011-T-G c.1497A>C p.K499N Missense 12/18 - 25
7-140778012-T-G c.1496A>C p.K499T Missense 12/18 - 1
7-140778013-T-C c.1495A>G p.K499E Missense 12/18 - 31
7-140778013-T-G c.1495A>C p.K499Q Missense 12/18 - 1
7-140778014-G-A c.1494C>T p.F498= Synonymous 12/18 - 1
7-140778014-GAA-CAT c.1492_1494delinsATG p.F498M Missense 12/18 - 1
7-140778014-GAA-CTC c.1492_1494delinsGAG p.F498E Missense 12/18 - 1
7-140778014-GAA-CTT c.1492_1494delinsAAG p.F498K Missense 12/18 - 1
7-140778014-GAA-TTG c.1492_1494delinsCAA p.F498Q Missense 12/18 - 1
7-140778014-GA-CC c.1493_1494delinsGG p.F498W Missense 12/18 - 1
7-140778015-AA-CC c.1492_1493delinsGG p.F498G Missense 12/18 - 1
7-140778015-AA-CG c.1492_1493delinsCG p.F498R Missense 12/18 - 1
7-140778015-AA-GC c.1492_1493delinsGC p.F498A Missense 12/18 - 2
7-140778015-AA-GG c.1492_1493delinsCC p.F498P Missense 12/18 - 1
7-140778015-AA-GT c.1492_1493delinsAC p.F498T Missense 12/18 - 1
7-140778015-AA-TC c.1492_1493delinsGA p.F498D Missense 12/18 - 1
7-140778015-AA-TG c.1492_1493delinsCA p.F498H Missense 12/18 - 1
7-140778015-AA-TT c.1492_1493inv p.F498N Missense 12/18 - 1
7-140778015-A-C c.1493T>G p.F498C Missense 12/18 - 1
7-140778015-A-G c.1493T>C p.F498S Missense 12/18 - 2
7-140778015-A-T c.1493T>A p.F498Y Missense 12/18 - 3
7-140778014-G-C c.1494C>G p.F498L Missense 12/18 - 1
7-140778014-G-T c.1494C>A p.F498L Missense 12/18 - 1
7-140778016-A-C c.1492T>G p.F498V Missense 12/18 - 1
7-140778016-A-G c.1492T>C p.F498L Missense 12/18 - 2
7-140778016-A-T c.1492T>A p.F498I Missense 12/18 - 3
7-140778017-GGC-CAT c.1489_1491delinsATG p.A497M Missense 12/18 - 1
7-140778017-GGC-CCA c.1489_1491delinsTGG p.A497W Missense 12/18 - 1
7-140778017-GGC-CTT c.1489_1491delinsAAG p.A497K Missense 12/18 - 1
7-140778017-GG-CT c.1490_1491delinsAG p.A497E Missense 12/18 - 1
7-140778017-GGC-TTG c.1489_1491delinsCAA p.A497Q Missense 12/18 - 1
7-140778018-G-A c.1490C>T p.A497V Missense 12/18 - 6
7-140778018-G-C c.1490C>G p.A497G Missense 12/18 - 2
7-140778018-GC-AA c.1489_1490delinsTT p.A497F Missense 12/18 - 1
7-140778018-GC-AG c.1489_1490delinsCT p.A497L Missense 12/18 - 1
7-140778018-GC-AT c.1489_1490delinsAT p.A497I Missense 12/18 - 1
7-140778018-GC-CA c.1489_1490delinsTG p.A497C Missense 12/18 - 1
7-140778018-GC-CG c.1489_1490delinsCG p.A497R Missense 12/18 - 1
7-140778018-GC-TA c.1489_1490delinsTA p.A497Y Missense 12/18 - 1
7-140778018-GC-TG c.1489_1490delinsCA p.A497H Missense 12/18 - 1
7-140778018-GC-TT c.1489_1490delinsAA p.A497N Missense 12/18 - 1
7-140778018-G-T c.1490C>A p.A497D Missense 12/18 - 2
7-140778019-C-A c.1489G>T p.A497S Missense 12/18 - 2
7-140778019-C-G c.1489G>C p.A497P Missense 12/18 - 1
7-140778019-C-T c.1489G>A p.A497T Missense 12/18 - 2
7-140778020-T-C c.1488A>G p.Q496= Synonymous 12/18 - 1
7-140778021-T-C c.1487A>G p.Q496R Missense 12/18 - 1
7-140778021-TG-GA c.1486_1487delinsTC p.Q496S Missense 12/18 - 1
7-140778022-G-A c.1486C>T p.Q496* Nonsense 12/18 - 2
7-140778024-A-C c.1484T>G p.L495* Nonsense 12/18 - 1
7-140778024-A-T c.1484T>A p.L495* Nonsense 12/18 - 1
7-140778025-A-C c.1483T>G p.L495V Missense 12/18 - 1
7-140778025-ACTGCTGAGGTGTAGGTGCTGTCA-GGT c.1460_1483delinsACC p.V487_Q494delinsD MultiAAMissense 12/18 - 1
7-140778026-ACTGCTGAGGTGTAGG-A c.1468_1482del p.P490_Q494del InFrameDeletion 12/18 - 2
7-140778026-C-A c.1482G>T p.Q494H Missense 12/18 - 2
7-140778026-C-T c.1482G>A p.Q494= Synonymous 12/18 - 1
7-140778027-CTGCTGAGGTGTAGGT-C c.1467_1481del p.P490_Q494del InFrameDeletion 12/18 - 3
7-140778028-G-A c.1480C>T p.Q494* Nonsense 12/18 - 2
7-140778028-G-T c.1480C>A p.Q494K Missense 12/18 - 2
7-140778025-ACTG-A c.1480_1482del p.Q494del InFrameDeletion 12/18 - 5
7-140778029-C-A c.1479G>T p.Q493H Missense 12/18 - 2
7-140778029-C-G c.1479G>C p.Q493H Missense 12/18 - 1
7-140778029-C-T c.1479G>A p.Q493= Synonymous 12/18 - 1
7-140778029-CTG-ACA c.1477_1479delinsTGT p.Q493C Missense 12/18 - 1
7-140778029-GCTGAGGTGTAGGTGC-G c.1465_1479del p.A489_Q493del InFrameDeletion 12/18 - 1
7-140778030-T-C c.1478A>G p.Q493R Missense 12/18 - 1
7-140778030-TGAGGTGTAGGTGCTGTC-CGT c.1461_1478delinsACG p.T488_Q493delinsR MultiAAMissense 12/18 - 1
7-140778031-G-A c.1477C>T p.Q493* Nonsense 12/18 - 1
7-140778031-G-T c.1477C>A p.Q493K Missense 12/18 - 1
7-140778031-TGAGGTGTAGGTGCTG-T c.1463_1477del p.T488_Q493delinsK MultiAAMissense 12/18 - 1
7-140778030-TGAG-T c.1475_1477del p.P492del InFrameDeletion 12/18 - 5
7-140778032-A-G c.1476T>C p.P492= Synonymous 12/18 - 1
7-140778032-GAGGTGTAGGTGCTGT-G c.1462_1476del p.T488_P492del InFrameDeletion 12/18 - 2
7-140778033-G-A c.1475C>T p.P492L Missense 12/18 - 1
7-140778033-G-C c.1475C>G p.P492R Missense 12/18 - 1
7-140778033-G-T c.1475C>A p.P492H Missense 12/18 - 2
7-140778034-G-A c.1474C>T p.P492S Missense 12/18 - 2
7-140778034-GGTGTAGGTGCTGTCA-G c.1460_1474del p.V487_P492delinsA MultiAAMissense 12/18 - 3
7-140778034-G-T c.1474C>A p.P492T Missense 12/18 - 1
7-140778035-GTGT-G c.1471_1473del p.T491del InFrameDeletion 12/18 - 1
7-140778036-G-A c.1472C>T p.T491I Missense 12/18 - 5
7-140778036-TGTAGGTGCTGTCACA-T c.1458_1472del p.N486_T491delinsK MultiAAMissense 12/18 - 4
7-140778037-T-A c.1471A>T p.T491S Missense 12/18 - 1
7-140778036-GTAGGTGCTGTCACAT-G c.1457_1471del p.N486_P490del InFrameDeletion 12/18 - 37
7-140778038-A-G c.1470T>C p.P490= Synonymous 12/18 - 2
7-140778038-AGG-TTA c.1468_1470delinsTAA p.P490* Nonsense 12/18 - 1
7-140778038-TAGG-T c.1468_1470del p.P490del InFrameDeletion 12/18 - 26
7-140778039-AGG-A c.1468_1469del p.P490Yfs*11 Frameshift 12/18 - 1
7-140778039-AGGTGCTGTCACATTC-A c.1455_1469del p.L485_P490delinsF MultiAAMissense 12/18 - 7
7-140778039-GG-TA c.1468_1469delinsTA p.P490Y Missense 12/18 - 1
7-140778039-G-T c.1469C>A p.P490H Missense 12/18 - 1
7-140778040-G-A c.1468C>T p.P490S Missense 12/18 - 4
7-140778040-G-C c.1468C>G p.P490A Missense 12/18 - 1
7-140778041-T-C c.1467A>G p.A489= Synonymous 12/18 - 1
7-140778042-G-A c.1466C>T p.A489V Missense 12/18 - 1
7-140778042-G-T c.1466C>A p.A489E Missense 12/18 - 2
7-140778042-TGCTGTCACA-T c.1458_1466del p.N486_A489delinsK MultiAAMissense 12/18 - 3
7-140778042-TGCTGTCACATTCAAC-T c.1452_1466del p.M484_A489delinsI MultiAAMissense 12/18 - 1
7-140778042-TGCTGTCACATTCA-T c.1454_1466del p.L485Yfs*14 Frameshift 12/18 - 1
7-140778043-C-A c.1465G>T p.A489S Missense 12/18 - 1
7-140778043-C-T c.1465G>A p.A489T Missense 12/18 - 3
7-140778044-T-A c.1464A>T p.T488= Synonymous 12/18 - 1
7-140778044-T-C c.1464A>G p.T488= Synonymous 12/18 - 1
7-140778045-G-A c.1463C>T p.T488I Missense 12/18 - 3
7-140778045-GT-TA c.1462_1463delinsTA p.T488* Nonsense 12/18 - 1
7-140778046-T-C c.1462A>G p.T488A Missense 12/18 - 3
7-140778047-C-A c.1461G>T p.V487= Synonymous 12/18 - 5
7-140778047-CAC-AAA c.1459_1461delinsTTT p.V487F Missense 12/18 - 1
7-140778047-CAC-ACA c.1459_1461delinsTGT p.V487C Missense 12/18 - 1
7-140778047-CAC-ATA c.1459_1461delinsTAT p.V487Y Missense 12/18 - 2
7-140778047-CAC-ATG c.1459_1461delinsCAT p.V487H Missense 12/18 - 1
7-140778047-CAC-GAT c.1459_1461delinsATC p.V487I Missense 12/18 - 2
7-140778047-CAC-GTT c.1459_1461delinsAAC p.V487N Missense 12/18 - 1
7-140778047-CA-GT c.1460_1461delinsAC p.V487D Missense 12/18 - 1
7-140778047-C-G c.1461G>C p.V487= Synonymous 12/18 - 4
7-140778047-C-T c.1461G>A p.V487= Synonymous 12/18 - 6
7-140778047-TCAC-T c.1459_1461del p.V487del InFrameDeletion 12/18 - 1
7-140778048-A-C c.1460T>G p.V487G Missense 12/18 - 15
7-140778048-AC-CA c.1459_1460delinsTG p.V487W Missense 12/18 - 1
7-140778048-AC-CT c.1459_1460delinsAG p.V487R Missense 12/18 - 1
7-140778048-AC-GA c.1459_1460delinsTC p.V487S Missense 12/18 - 2
7-140778048-AC-GG c.1459_1460delinsCC p.V487P Missense 12/18 - 1
7-140778048-AC-GT c.1459_1460inv p.V487T Missense 12/18 - 1
7-140778048-AC-TG c.1459_1460delinsCA p.V487Q Missense 12/18 - 1
7-140778048-AC-TT c.1459_1460delinsAA p.V487K Missense 12/18 - 1
7-140778048-A-G c.1460T>C p.V487A Missense 12/18 - 3
7-140778048-A-T c.1460T>A p.V487E Missense 12/18 - 3
7-140778045-GTCACAT-G c.1457_1462del p.N486_V487del InFrameDeletion 12/18 - 1
7-140778049-C-A c.1459G>T p.V487L Missense 12/18 - 3
7-140778049-C-G c.1459G>C p.V487L Missense 12/18 - 2
7-140778049-C-T c.1459G>A p.V487M Missense 12/18 - 2
7-140778051-T-A c.1457A>T p.N486I Missense 12/18 - 1
7-140778051-TT-GG c.1456_1457delinsCC p.N486P Missense 12/18 - 1
7-140778052-T-A c.1456A>T p.N486Y Missense 12/18 - 1
7-140778052-T-C c.1456A>G p.N486D Missense 12/18 - 1
7-140778053-C-A c.1455G>T p.L485F Missense 12/18 - 47
7-140778053-CAA-ATG c.1453_1455delinsCAT p.L485H Missense 12/18 - 1
7-140778053-CA-AC c.1454_1455delinsGT p.L485C Missense 12/18 - 1
7-140778053-CAA-GAT c.1453_1455delinsATC p.L485I Missense 12/18 - 1
7-140778053-CAA-GTC c.1453_1455delinsGAC p.L485D Missense 12/18 - 1
7-140778053-CAA-GTT c.1453_1455delinsAAC p.L485N Missense 12/18 - 1
7-140778053-CA-AT c.1454_1455delinsAT p.L485Y Missense 12/18 - 3
7-140778053-C-G c.1455G>C p.L485F Missense 12/18 - 57
7-140778054-AA-CC c.1453_1454delinsGG p.L485G Missense 12/18 - 1
7-140778054-AA-CT c.1453_1454delinsAG p.L485R Missense 12/18 - 1
7-140778054-AA-GC c.1453_1454delinsGC p.L485A Missense 12/18 - 1
7-140778054-AA-GG c.1453_1454delinsCC p.L485P Missense 12/18 - 1
7-140778054-AA-GT c.1453_1454delinsAC p.L485T Missense 12/18 - 1
7-140778054-AA-TC c.1453_1454delinsGA p.L485E Missense 12/18 - 1
7-140778054-AA-TG c.1453_1454delinsCA p.L485Q Missense 12/18 - 1
7-140778054-AA-TT c.1453_1454inv p.L485K Missense 12/18 - 1
7-140778054-A-C c.1454T>G p.L485W Missense 12/18 - 25
7-140778054-A-G c.1454T>C p.L485S Missense 12/18 - 25
7-140778054-A-T c.1454T>A p.L485* Nonsense 12/18 - 4
7-140778053-C-T c.1455G>A p.L485= Synonymous 12/18 - 1
7-140778055-A-C c.1453T>G p.L485V Missense 12/18 - 2
7-140778055-A-G c.1453T>C p.L485= Synonymous 12/18 - 1
7-140778055-A-T c.1453T>A p.L485M Missense 12/18 - 2
7-140778056-C-A c.1452G>T p.M484I Missense 12/18 - 3
7-140778056-C-G c.1452G>C p.M484I Missense 12/18 - 1
7-140778056-C-T c.1452G>A p.M484I Missense 12/18 - 1
7-140778059-T-A c.1449A>T p.K483N Missense 12/18 - 6
7-140778059-T-G c.1449A>C p.K483N Missense 12/18 - 7
7-140778059-TT-CA c.1448_1449delinsTG p.K483M Missense 12/18 - 18
7-140778059-TTT-CCA c.1447_1449delinsTGG p.K483W Missense 12/18 - 1
7-140778059-TTT-GTC c.1447_1449delinsGAC p.K483D Missense 12/18 - 1
7-140778060-T-C c.1448A>G p.K483R Missense 12/18 - 1
7-140778060-T-G c.1448A>C p.K483T Missense 12/18 - 2
7-140778061-T-C c.1447A>G p.K483E Missense 12/18 - 48
7-140778061-T-G c.1447A>C p.K483Q Missense 12/18 - 9
7-140778061-T-TCCAAAGAAA c.1446_1447insTTTCTTTGG p.V482_K483insFLW InFrameInsertion 12/18 - 1
7-140778062-C-A c.1446G>T p.V482= Synonymous 12/18 - 3
7-140778062-CAC-AAA c.1444_1446delinsTTT p.V482F Missense 12/18 - 2
7-140778062-CAC-GAT c.1444_1446delinsATC p.V482I Missense 12/18 - 1
7-140778062-C-G c.1446G>C p.V482= Synonymous 12/18 - 2
7-140778062-C-T c.1446G>A p.V482= Synonymous 12/18 - 3
7-140778063-A-C c.1445T>G p.V482G Missense 12/18 - 1
7-140778063-A-G c.1445T>C p.V482A Missense 12/18 - 1
7-140778064-C-A c.1444G>T p.V482L Missense 12/18 - 1
7-140778064-C-T c.1444G>A p.V482M Missense 12/18 - 2
7-140778065-T-C c.1443A>G p.A481= Synonymous 12/18 - 1
7-140778065-TGC-AAA c.1441_1443delinsTTT p.A481F Missense 12/18 - 8
7-140778066-G-A c.1442C>T p.A481V Missense 12/18 - 2
7-140778066-G-C c.1442C>G p.A481G Missense 12/18 - 1
7-140778066-G-T c.1442C>A p.A481E Missense 12/18 - 5
7-140778067-C-A c.1441G>T p.A481S Missense 12/18 - 1
7-140778067-C-T c.1441G>A p.A481T Missense 12/18 - 1
7-140778068-C-A c.1440G>T p.V480= Synonymous 12/18 - 1
7-140778070-C-A c.1438G>T p.V480L Missense 12/18 - 3
7-140778070-C-G c.1438G>C p.V480L Missense 12/18 - 1
7-140778070-C-T c.1438G>A p.V480M Missense 12/18 - 3
7-140778072-T-A c.1436A>T p.D479V Missense 12/18 - 1
7-140778073-C-A c.1435G>T p.D479Y Missense 12/18 - 2
7-140778073-C-T c.1435G>A p.D479N Missense 12/18 - 4
7-140778073-C-CAT c.1434_1435insAT p.D479Mfs*5 SpliceAcceptorInsertion 12/18 - 1
7-140778074-A-T c.1434T>A p.G478= Synonymous 12/18 - 1
7-140778075-C-A c.1433G>T p.G478V Missense 12/18 - 1
7-140778075-C-T c.1433G>A p.G478D Missense 12/18 - 4
7-140778094-T-C c.1433-19A>G - IntronicSNV - 11/17 1
7-140778139-C-G c.1433-64G>C - IntronicSNV - 11/17 1
7-140778139-C-T c.1433-64G>A - IntronicSNV - 11/17 1
7-140778454-G-T c.1433-379C>A - IntronicSNV - 11/17 4
7-140779314-G-C c.1433-1239C>G - IntronicSNV - 11/17 2
7-140779835-G-A c.1432+1741C>T - IntronicSNV - 11/17 1
7-140780119-A-C c.1432+1457T>G - IntronicSNV - 11/17 2
7-140780263-A-C c.1432+1313T>G - IntronicSNV - 11/17 2
7-140780263-A-G c.1432+1313T>C - IntronicSNV - 11/17 2
7-140780263-A-T c.1432+1313T>A - IntronicSNV - 11/17 2
7-140780311-G-A c.1432+1265C>T - IntronicSNV - 11/17 1
7-140780311-G-T c.1432+1265C>A - IntronicSNV - 11/17 1
7-140780720-C-T c.1432+856G>A - IntronicSNV - 11/17 1
7-140781425-T-C c.1432+151A>G - IntronicSNV - 11/17 1
7-140781509-TACAAAA-T c.1432+62_1432+67del - IntronicDeletion - 11/17 1
7-140781561-CACATTACATACTTA-C c.1432+2_1432+15del - IntronicDeletion - 11/17 1
7-140781573-T-C c.1432+3A>G - IntronicSNV - 11/17 1
7-140781575-ACC-A c.1432_1432+1del - SpliceDonorDeletion 11/18 11/17 1
7-140781575-C-A c.1432+1G>T - IntronicSNV - 11/17 1
7-140781575-C-T c.1432+1G>A - IntronicSNV - 11/17 1
7-140781576-C-A c.1432G>T p.G478C Missense 11/18 - 3
7-140781576-C-T c.1432G>A p.G478S Missense 11/18 - 1
7-140781577-A-T c.1431T>A p.H477Q Missense 11/18 - 1
7-140781578-TG-GC c.1429_1430delinsGC p.H477A Missense 11/18 - 1
7-140781579-G-A c.1429C>T p.H477Y Missense 11/18 - 1
7-140781580-C-A c.1428G>T p.W476C Missense 11/18 - 1
7-140781580-C-T c.1428G>A p.W476* Nonsense 11/18 - 4
7-140781581-C-A c.1427G>T p.W476L Missense 11/18 - 1
7-140781581-C-T c.1427G>A p.W476* Nonsense 11/18 - 5
7-140781582-A-G c.1426T>C p.W476R Missense 11/18 - 1
7-140781582-A-T c.1426T>A p.W476R Missense 11/18 - 1
7-140781584-T-A c.1424A>T p.K475M Missense 11/18 - 4
7-140781584-T-C c.1424A>G p.K475R Missense 11/18 - 4
7-140781587-C-A c.1421G>T p.G474V Missense 11/18 - 2
7-140781587-C-T c.1421G>A p.G474E Missense 11/18 - 1
7-140781588-C-A c.1420G>T p.G474* Nonsense 11/18 - 1
7-140781588-C-G c.1420G>C p.G474R Missense 11/18 - 5
7-140781588-C-T c.1420G>A p.G474R Missense 11/18 - 5
7-140781589-C-A c.1419G>T p.K473N Missense 11/18 - 2
7-140781589-CCTT-C c.1417_1419del p.K473del InFrameDeletion 11/18 - 1
7-140781589-C-G c.1419G>C p.K473N Missense 11/18 - 1
7-140781590-T-A c.1418A>T p.K473M Missense 11/18 - 1
7-140781590-T-C c.1418A>G p.K473R Missense 11/18 - 4
7-140781591-T-C c.1417A>G p.K473E Missense 11/18 - 1
7-140781591-T-G c.1417A>C p.K473Q Missense 11/18 - 1
7-140781592-G-A c.1416C>T p.Y472= Synonymous 11/18 - 1
7-140781593-T-A c.1415A>T p.Y472F Missense 11/18 - 3
7-140781593-T-C c.1415A>G p.Y472C Missense 11/18 - 43
7-140781593-T-G c.1415A>C p.Y472S Missense 11/18 - 9
7-140781594-A-G c.1414T>C p.Y472H Missense 11/18 - 2
7-140781595-G-A c.1413C>T p.V471= Synonymous 11/18 - 2
7-140781595-GA-CT c.1412_1413delinsAG p.V471E Missense 11/18 - 1
7-140781595-G-C c.1413C>G p.V471= Synonymous 11/18 - 1
7-140781595-G-T c.1413C>A p.V471= Synonymous 11/18 - 1
7-140781596-A-G c.1412T>C p.V471A Missense 11/18 - 5
7-140781597-C-A c.1411G>T p.V471F Missense 11/18 - 46
7-140781597-C-T c.1411G>A p.V471I Missense 11/18 - 20
7-140781596-ACTGTTC-A c.1406_1411del p.G469_T470del InFrameDeletion 11/18 - 1
7-140781598-T-A c.1410A>T p.T470= Synonymous 11/18 - 3
7-140781598-T-C c.1410A>G p.T470= Synonymous 11/18 - 2
7-140781598-T-G c.1410A>C p.T470= Synonymous 11/18 - 1
7-140781598-TG-AT c.1409_1410delinsAT p.T470N Missense 11/18 - 1
7-140781597-CTGT-C c.1408_1410del p.T470del InFrameDeletion 11/18 - 3
7-140781599-G-A c.1409C>T p.T470I Missense 11/18 - 3
7-140781599-G-C c.1409C>G p.T470R Missense 11/18 - 6
7-140781599-G-T c.1409C>A p.T470K Missense 11/18 - 3
7-140781600-T-C c.1408A>G p.T470A Missense 11/18 - 2
7-140781600-T-G c.1408A>C p.T470P Missense 11/18 - 4
7-140781601-T-A c.1407A>T p.G469= Synonymous 11/18 - 6
7-140781601-T-C c.1407A>G p.G469= Synonymous 11/18 - 4
7-140781601-TCC-ACT c.1405_1407delinsAGT p.G469S Missense 11/18 - 6
7-140781601-TCC-GCT c.1405_1407delinsAGC p.G469S Missense 11/18 - 63
7-140781601-TCC-GCTGCT c.1405_1407delinsAGCAGC p.G469delinsSS MultiAAMissense 11/18 - 1
7-140781601-TC-GT c.1406_1407delinsAC p.G469D Missense 11/18 - 1
7-140781601-T-G c.1407A>C p.G469= Synonymous 11/18 - 4
7-140781601-TTCC-T c.1405_1407del p.G469del InFrameDeletion 11/18 - 6
7-140781602-C-A c.1406G>T p.G469V Missense 11/18 - 222
7-140781602-CC-AA c.1405_1406delinsTT p.G469L Missense 11/18 - 2
7-140781602-CC-AG c.1405_1406delinsCT p.G469L Missense 11/18 - 23
7-140781602-CC-AT c.1405_1406delinsAT p.G469I Missense 11/18 - 1
7-140781602-CC-GA c.1405_1406delinsTC p.G469S Missense 11/18 - 2
7-140781602-CC-GT c.1405_1406delinsAC p.G469T Missense 11/18 - 2
7-140781602-CC-TG c.1405_1406delinsCA p.G469Q Missense 11/18 - 1
7-140781602-CC-TT c.1405_1406delinsAA p.G469K Missense 11/18 - 3
7-140781602-C-G c.1406G>C p.G469A Missense 11/18 - 492
7-140781602-C-T c.1406G>A p.G469E Missense 11/18 - 206
7-140781603-C-A c.1405G>T p.G469* Nonsense 11/18 - 19
7-140781603-C-G c.1405G>C p.G469R Missense 11/18 - 155
7-140781603-C-T c.1405G>A p.G469R Missense 11/18 - 170
7-140781604-AAA-CAT c.1402_1404delinsATG p.F468M Missense 11/18 - 1
7-140781604-AAA-CTC c.1402_1404delinsGAG p.F468E Missense 11/18 - 1
7-140781604-AAA-CTT c.1402_1404delinsAAG p.F468K Missense 11/18 - 1
7-140781604-AAA-TTG c.1402_1404delinsCAA p.F468Q Missense 11/18 - 1
7-140781604-AA-CC c.1403_1404delinsGG p.F468W Missense 11/18 - 1
7-140781604-A-G c.1404T>C p.F468= Synonymous 11/18 - 1
7-140781604-CAAA-C c.1402_1404del p.F468del InFrameDeletion 11/18 - 1
7-140781600-TTCCAAATGA-T c.1399_1407del p.S467_G469del InFrameDeletion 11/18 - 1
7-140781605-AA-CC c.1402_1403delinsGG p.F468G Missense 11/18 - 1
7-140781605-AA-CG c.1402_1403delinsCG p.F468R Missense 11/18 - 1
7-140781605-AA-GC c.1402_1403delinsGC p.F468A Missense 11/18 - 1
7-140781605-AA-GG c.1402_1403delinsCC p.F468P Missense 11/18 - 1
7-140781605-AA-GT c.1402_1403delinsAC p.F468T Missense 11/18 - 1
7-140781605-AA-TC c.1402_1403delinsGA p.F468D Missense 11/18 - 1
7-140781605-AA-TG c.1402_1403delinsCA p.F468H Missense 11/18 - 1
7-140781605-AA-TT c.1402_1403inv p.F468N Missense 11/18 - 1
7-140781605-A-C c.1403T>G p.F468C Missense 11/18 - 34
7-140781605-A-G c.1403T>C p.F468S Missense 11/18 - 42
7-140781605-A-T c.1403T>A p.F468Y Missense 11/18 - 1
7-140781604-A-C c.1404T>G p.F468L Missense 11/18 - 4
7-140781604-A-T c.1404T>A p.F468L Missense 11/18 - 5
7-140781606-A-C c.1402T>G p.F468V Missense 11/18 - 1
7-140781606-A-G c.1402T>C p.F468L Missense 11/18 - 6
7-140781606-A-T c.1402T>A p.F468I Missense 11/18 - 1
7-140781607-T-A c.1401A>T p.S467= Synonymous 11/18 - 1
7-140781607-T-C c.1401A>G p.S467= Synonymous 11/18 - 1
7-140781607-T-G c.1401A>C p.S467= Synonymous 11/18 - 1
7-140781607-TG-AA c.1400_1401delinsTT p.S467F Missense 11/18 - 2
7-140781608-G-A c.1400C>T p.S467L Missense 11/18 - 71
7-140781608-TG-T c.1400del p.S467Yfs*16 Frameshift 11/18 - 1
7-140781609-A-C c.1399T>G p.S467A Missense 11/18 - 28
7-140781609-A-G c.1399T>C p.S467P Missense 11/18 - 3
7-140781609-A-T c.1399T>A p.S467T Missense 11/18 - 2
7-140781610-T-A c.1398A>T p.G466= Synonymous 11/18 - 1
7-140781610-T-C c.1398A>G p.G466= Synonymous 11/18 - 5
7-140781610-TC-GT c.1397_1398delinsAC p.G466D Missense 11/18 - 1
7-140781610-T-G c.1398A>C p.G466= Synonymous 11/18 - 1
7-140781611-C-A c.1397G>T p.G466V Missense 11/18 - 270
7-140781611-CC-AG c.1396_1397delinsCT p.G466L Missense 11/18 - 1
7-140781611-C-G c.1397G>C p.G466A Missense 11/18 - 134
7-140781611-C-T c.1397G>A p.G466E Missense 11/18 - 206
7-140781612-C-A c.1396G>T p.G466* Nonsense 11/18 - 6
7-140781612-C-G c.1396G>C p.G466R Missense 11/18 - 87
7-140781612-C-T c.1396G>A p.G466R Missense 11/18 - 88
7-140781612-C-CA c.1395dup p.G466Wfs*14 Frameshift 11/18 - 1
7-140781613-A-C c.1395T>G p.S465= Synonymous 11/18 - 1
7-140781613-A-G c.1395T>C p.S465= Synonymous 11/18 - 1
7-140781613-AGA-CTC c.1393_1395delinsGAG p.S465E Missense 11/18 - 1
7-140781613-A-T c.1395T>A p.S465= Synonymous 11/18 - 1
7-140781614-G-A c.1394C>T p.S465F Missense 11/18 - 7
7-140781614-GA-TC c.1393_1394inv p.S465D Missense 11/18 - 2
7-140781614-G-C c.1394C>G p.S465C Missense 11/18 - 2
7-140781614-G-T c.1394C>A p.S465Y Missense 11/18 - 3
7-140781615-A-C c.1393T>G p.S465A Missense 11/18 - 3
7-140781615-A-G c.1393T>C p.S465P Missense 11/18 - 1
7-140781615-A-T c.1393T>A p.S465T Missense 11/18 - 1
7-140781616-T-A c.1392A>T p.G464= Synonymous 11/18 - 2
7-140781616-T-C c.1392A>G p.G464= Synonymous 11/18 - 3
7-140781616-TC-GT c.1391_1392delinsAC p.G464D Missense 11/18 - 1
7-140781616-T-G c.1392A>C p.G464= Synonymous 11/18 - 2
7-140781617-C-A c.1391G>T p.G464V Missense 11/18 - 190
7-140781617-CC-AT c.1390_1391delinsAT p.G464I Missense 11/18 - 1
7-140781617-CC-GT c.1390_1391delinsAC p.G464T Missense 11/18 - 1
7-140781617-C-G c.1391G>C p.G464A Missense 11/18 - 18
7-140781617-C-T c.1391G>A p.G464E Missense 11/18 - 108
7-140781618-C-A c.1390G>T p.G464* Nonsense 11/18 - 2
7-140781618-C-G c.1390G>C p.G464R Missense 11/18 - 44
7-140781618-C-T c.1390G>A p.G464R Missense 11/18 - 42
7-140781619-A-C c.1389T>G p.I463M Missense 11/18 - 1
7-140781619-A-G c.1389T>C p.I463= Synonymous 11/18 - 1
7-140781619-A-T c.1389T>A p.I463= Synonymous 11/18 - 1
7-140781620-A-C c.1388T>G p.I463S Missense 11/18 - 12
7-140781620-A-G c.1388T>C p.I463T Missense 11/18 - 3
7-140781621-T-A c.1387A>T p.I463F Missense 11/18 - 1
7-140781621-T-C c.1387A>G p.I463V Missense 11/18 - 7
7-140781622-T-C c.1386A>G p.R462= Synonymous 11/18 - 2
7-140781624-T-G c.1384A>C p.R462= Synonymous 11/18 - 2
7-140781623-C-A c.1385G>T p.R462I Missense 11/18 - 26
7-140781623-C-G c.1385G>C p.R462T Missense 11/18 - 9
7-140781623-C-T c.1385G>A p.R462K Missense 11/18 - 18
7-140781623-CT-GC c.1384_1385delinsGC p.R462A Missense 11/18 - 1
7-140781623-CT-TC c.1384_1385delinsGA p.R462E Missense 11/18 - 3
7-140781623-CT-TG c.1384_1385delinsCA p.R462Q Missense 11/18 - 1
7-140781624-T-C c.1384A>G p.R462G Missense 11/18 - 4
7-140781623-CTT-C c.1383_1384del p.R462Nfs*17 Frameshift 11/18 - 1
7-140781625-T-A c.1383A>T p.Q461H Missense 11/18 - 1
7-140781625-T-C c.1383A>G p.Q461= Synonymous 11/18 - 4
7-140781625-T-G c.1383A>C p.Q461H Missense 11/18 - 1
7-140781624-TTTG-T c.1381_1383del p.Q461del InFrameDeletion 11/18 - 1
7-140781626-T-C c.1382A>G p.Q461R Missense 11/18 - 1
7-140781627-G-A c.1381C>T p.Q461* Nonsense 11/18 - 3
7-140781627-G-C c.1381C>G p.Q461E Missense 11/18 - 3
7-140781628-T-A c.1380A>T p.G460= Synonymous 11/18 - 2
7-140781628-T-C c.1380A>G p.G460= Synonymous 11/18 - 7
7-140781628-T-G c.1380A>C p.G460= Synonymous 11/18 - 2
7-140781629-C-A c.1379G>T p.G460V Missense 11/18 - 2
7-140781629-C-T c.1379G>A p.G460E Missense 11/18 - 4
7-140781630-C-A c.1378G>T p.G460* Nonsense 11/18 - 2
7-140781630-C-G c.1378G>C p.G460R Missense 11/18 - 2
7-140781630-C-T c.1378G>A p.G460R Missense 11/18 - 6
7-140781631-C-A c.1377G>T p.V459= Synonymous 11/18 - 4
7-140781631-CAC-AAA c.1375_1377delinsTTT p.V459F Missense 11/18 - 1
7-140781631-C-G c.1377G>C p.V459= Synonymous 11/18 - 4
7-140781631-C-T c.1377G>A p.V459= Synonymous 11/18 - 3
7-140781632-A-G c.1376T>C p.V459A Missense 11/18 - 4
7-140781632-A-T c.1376T>A p.V459E Missense 11/18 - 1
7-140781632-CA-C c.1376del p.V459Gfs*24 Frameshift 11/18 - 1
7-140781633-C-A c.1375G>T p.V459L Missense 11/18 - 15
7-140781633-C-G c.1375G>C p.V459L Missense 11/18 - 14
7-140781633-C-T c.1375G>A p.V459M Missense 11/18 - 4
7-140781634-T-A c.1374A>T p.T458= Synonymous 11/18 - 2
7-140781634-T-C c.1374A>G p.T458= Synonymous 11/18 - 3
7-140781634-T-G c.1374A>C p.T458= Synonymous 11/18 - 2
7-140781634-TG-CA c.1373_1374inv p.T458M Missense 11/18 - 1
7-140781635-G-A c.1373C>T p.T458I Missense 11/18 - 2
7-140781635-G-C c.1373C>G p.T458R Missense 11/18 - 1
7-140781636-T-C c.1372A>G p.T458A Missense 11/18 - 3
7-140781637-A-C c.1371T>G p.I457M Missense 11/18 - 1
7-140781638-A-G c.1370T>C p.I457T Missense 11/18 - 4
7-140781638-A-T c.1370T>A p.I457N Missense 11/18 - 1
7-140781639-T-A c.1369A>T p.I457F Missense 11/18 - 1
7-140781639-T-C c.1369A>G p.I457V Missense 11/18 - 3
7-140781640-C-A c.1368G>T p.Q456H Missense 11/18 - 5
7-140781640-C-G c.1368G>C p.Q456H Missense 11/18 - 4
7-140781640-C-T c.1368G>A p.Q456= Synonymous 11/18 - 3
7-140781641-T-C c.1367A>G p.Q456R Missense 11/18 - 6
7-140781642-G-A c.1366C>T p.Q456* Nonsense 11/18 - 5
7-140781642-G-GA c.1365_1366insT p.Q456Sfs*24 Frameshift 11/18 - 1
7-140781642-G-T c.1366C>A p.Q456K Missense 11/18 - 2
7-140781643-C-A c.1365G>T p.G455= Synonymous 11/18 - 3
7-140781643-CC-GT c.1364_1365delinsAC p.G455D Missense 11/18 - 1
7-140781643-C-G c.1365G>C p.G455= Synonymous 11/18 - 2
7-140781643-C-T c.1365G>A p.G455= Synonymous 11/18 - 3
7-140781644-C-A c.1364G>T p.G455V Missense 11/18 - 1
7-140781644-C-T c.1364G>A p.G455E Missense 11/18 - 7
7-140781645-C-A c.1363G>T p.G455W Missense 11/18 - 2
7-140781645-C-G c.1363G>C p.G455R Missense 11/18 - 5
7-140781645-C-T c.1363G>A p.G455R Missense 11/18 - 8
7-140781646-A-G c.1362T>C p.D454= Synonymous 11/18 - 1
7-140781646-ATC-CCA c.1360_1362delinsTGG p.D454W Missense 11/18 - 1
7-140781644-CCAT-C c.1361_1363del p.D454del InFrameDeletion 11/18 - 1
7-140781647-T-A c.1361A>T p.D454V Missense 11/18 - 1
7-140781647-T-C c.1361A>G p.D454G Missense 11/18 - 4
7-140781647-T-G c.1361A>C p.D454A Missense 11/18 - 1
7-140781648-C-A c.1360G>T p.D454Y Missense 11/18 - 1
7-140781648-C-G c.1360G>C p.D454H Missense 11/18 - 1
7-140781648-C-T c.1360G>A p.D454N Missense 11/18 - 4
7-140781649-A-C c.1359T>G p.P453= Synonymous 11/18 - 3
7-140781649-A-G c.1359T>C p.P453= Synonymous 11/18 - 7
7-140781649-AG-TT c.1358_1359delinsAA p.P453Q Missense 11/18 - 1
7-140781649-A-T c.1359T>A p.P453= Synonymous 11/18 - 3
7-140781650-G-A c.1358C>T p.P453L Missense 11/18 - 3
7-140781650-G-T c.1358C>A p.P453H Missense 11/18 - 3
7-140781651-G-A c.1357C>T p.P453S Missense 11/18 - 3
7-140781651-G-C c.1357C>G p.P453A Missense 11/18 - 5
7-140781651-G-T c.1357C>A p.P453T Missense 11/18 - 5
7-140781652-A-G c.1356T>C p.I452= Synonymous 11/18 - 3
7-140781652-A-T c.1356T>A p.I452= Synonymous 11/18 - 2
7-140781653-A-C c.1355T>G p.I452S Missense 11/18 - 1
7-140781653-A-G c.1355T>C p.I452T Missense 11/18 - 2
7-140781654-T-A c.1354A>T p.I452F Missense 11/18 - 1
7-140781654-T-C c.1354A>G p.I452V Missense 11/18 - 2
7-140781655-C-A c.1353G>T p.E451D Missense 11/18 - 4
7-140781655-C-G c.1353G>C p.E451D Missense 11/18 - 3
7-140781655-C-T c.1353G>A p.E451= Synonymous 11/18 - 2
7-140781656-T-C c.1352A>G p.E451G Missense 11/18 - 8
7-140781657-C-A c.1351G>T p.E451* Nonsense 11/18 - 1
7-140781657-C-G c.1351G>C p.E451Q Missense 11/18 - 6
7-140781657-C-T c.1351G>A p.E451K Missense 11/18 - 6
7-140781658-C-A c.1350G>T p.W450C Missense 11/18 - 1
7-140781656-TC-T c.1351del p.E451Rfs*32 Frameshift 11/18 - 1
7-140781658-C-T c.1350G>A p.W450* Nonsense 11/18 - 5
7-140781659-C-A c.1349G>T p.W450L Missense 11/18 - 8
7-140781659-CA-GC c.1348_1349delinsGC p.W450A Missense 11/18 - 2
7-140781659-C-T c.1349G>A p.W450* Nonsense 11/18 - 7
7-140781660-A-G c.1348T>C p.W450R Missense 11/18 - 2
7-140781660-A-T c.1348T>A p.W450R Missense 11/18 - 2
7-140781661-A-C c.1347T>G p.D449E Missense 11/18 - 5
7-140781661-A-G c.1347T>C p.D449= Synonymous 11/18 - 2
7-140781661-A-T c.1347T>A p.D449E Missense 11/18 - 5
7-140781663-C-A c.1345G>T p.D449Y Missense 11/18 - 2
7-140781663-C-T c.1345G>A p.D449N Missense 11/18 - 8
7-140781665-T-C c.1343A>G p.D448G Missense 11/18 - 3
7-140781665-T-G c.1343A>C p.D448A Missense 11/18 - 3
7-140781666-C-A c.1342G>T p.D448Y Missense 11/18 - 2
7-140781666-C-G c.1342G>C p.D448H Missense 11/18 - 1
7-140781667-A-C c.1341T>G p.S447R Missense 11/18 - 1
7-140781667-ACT-TCA c.1339_1341delinsTGA p.S447* Nonsense 11/18 - 1
7-140781667-A-G c.1341T>C p.S447= Synonymous 11/18 - 1
7-140781667-A-T c.1341T>A p.S447R Missense 11/18 - 1
7-140781669-T-G c.1339A>C p.S447R Missense 11/18 - 1
7-140781668-C-A c.1340G>T p.S447I Missense 11/18 - 4
7-140781668-C-T c.1340G>A p.S447N Missense 11/18 - 3
7-140781670-C-A c.1338G>T p.S446= Synonymous 11/18 - 1
7-140781670-C-G c.1338G>C p.S446= Synonymous 11/18 - 1
7-140781670-C-T c.1338G>A p.S446= Synonymous 11/18 - 2
7-140781671-G-A c.1337C>T p.S446L Missense 11/18 - 6
7-140781675-C-A c.1333G>T p.D445Y Missense 11/18 - 3
7-140781675-C-T c.1333G>A p.D445N Missense 11/18 - 1
7-140781676-C-A c.1332G>T p.R444= Synonymous 11/18 - 2
7-140781676-CC-AT c.1331_1332delinsAT p.R444H Missense 11/18 - 1
7-140781676-C-T c.1332G>A p.R444= Synonymous 11/18 - 10
7-140781677-C-A c.1331G>T p.R444L Missense 11/18 - 3
7-140781677-C-T c.1331G>A p.R444Q Missense 11/18 - 13
7-140781678-G-A c.1330C>T p.R444W Missense 11/18 - 31
7-140781679-T-C c.1329A>G p.R443= Synonymous 11/18 - 1
7-140781679-TCT-ACA c.1327_1329delinsTGT p.R443C Missense 11/18 - 1
7-140781681-T-G c.1327A>C p.R443= Synonymous 11/18 - 1
7-140781680-C-A c.1328G>T p.R443I Missense 11/18 - 2
7-140781680-C-G c.1328G>C p.R443T Missense 11/18 - 4
7-140781680-CT-GC c.1327_1328delinsGC p.R443A Missense 11/18 - 1
7-140781681-T-A c.1327A>T p.R443* Nonsense 11/18 - 1
7-140781681-T-C c.1327A>G p.R443G Missense 11/18 - 1
7-140781682-A-G c.1326T>C p.G442= Synonymous 11/18 - 1
7-140781683-C-A c.1325G>T p.G442V Missense 11/18 - 1
7-140781683-C-T c.1325G>A p.G442D Missense 11/18 - 4
7-140781684-C-A c.1324G>T p.G442C Missense 11/18 - 3
7-140781684-C-T c.1324G>A p.G442S Missense 11/18 - 8
7-140781685-A-T c.1323T>A p.L441= Synonymous 11/18 - 1
7-140781686-A-G c.1322T>C p.L441P Missense 11/18 - 1
7-140781687-G-A c.1321C>T p.L441F Missense 11/18 - 2
7-140781687-G-C c.1321C>G p.L441V Missense 11/18 - 1
7-140781687-G-T c.1321C>A p.L441I Missense 11/18 - 1
7-140781689-G-A c.1319C>T p.T440I Missense 11/18 - 5
7-140781690-T-C c.1318A>G p.T440A Missense 11/18 - 3
7-140781690-T-G c.1318A>C p.T440P Missense 11/18 - 6
7-140781691-T-C c.1317A>G p.K439= Synonymous 11/18 - 2
7-140781692-T-C c.1316A>G p.K439R Missense 11/18 - 1
7-140781692-T-G c.1316A>C p.K439T Missense 11/18 - 2
7-140781693-T-C c.1315A>G p.K439E Missense 11/18 - 1
7-140781693-T-G c.1315A>C p.K439Q Missense 11/18 - 2
7-140781702-A-G c.1315-9T>C - IntronicSNV - 10/17 1
7-140781711-A-C c.1315-18T>G - IntronicSNV - 10/17 2
7-140782443-C-T c.1314+578G>A - IntronicSNV - 10/17 1
7-140782457-T-A c.1314+564A>T - IntronicSNV - 10/17 1
7-140782458-C-T c.1314+563G>A - IntronicSNV - 10/17 1
7-140782461-T-A c.1314+560A>T - IntronicSNV - 10/17 1
7-140782461-TC-T c.1314+559del - IntronicDeletion - 10/17 2
7-140782463-C-A c.1314+558G>T - IntronicSNV - 10/17 1
7-140782463-CCAA-C c.1314+556_1314+558del - IntronicDeletion - 10/17 1
7-140782464-A-C c.1314+557T>G - IntronicSNV - 10/17 1
7-140782463-C-CA c.1314+557dup - IntronicInsertion - 10/17 1
7-140782480-T-A c.1314+541A>T - IntronicSNV - 10/17 1
7-140782481-C-A c.1314+540G>T - IntronicSNV - 10/17 2
7-140782484-C-A c.1314+537G>T - IntronicSNV - 10/17 1
7-140782486-T-A c.1314+535A>T - IntronicSNV - 10/17 1
7-140782488-T-A c.1314+533A>T - IntronicSNV - 10/17 1
7-140782493-T-A c.1314+528A>T - IntronicSNV - 10/17 1
7-140782496-C-A c.1314+525G>T - IntronicSNV - 10/17 1
7-140782500-G-T c.1314+521C>A - IntronicSNV - 10/17 1
7-140782501-G-T c.1314+520C>A - IntronicSNV - 10/17 1
7-140782502-T-A c.1314+519A>T - IntronicSNV - 10/17 1
7-140782504-G-A c.1314+517C>T - IntronicSNV - 10/17 1
7-140782507-T-A c.1314+514A>T - IntronicSNV - 10/17 1
7-140782512-G-A c.1314+509C>T - IntronicSNV - 10/17 1
7-140782514-T-A c.1314+507A>T - IntronicSNV - 10/17 1
7-140782546-G-A c.1314+475C>T - IntronicSNV - 10/17 1
7-140782627-T-C c.1314+394A>G - IntronicSNV - 10/17 3
7-140782868-C-G c.1314+153G>C - IntronicSNV - 10/17 1
7-140783010-T-C c.1314+11A>G - IntronicSNV - 10/17 1
7-140783018-T-C c.1314+3A>G - IntronicSNV - 10/17 1
7-140783019-A-C c.1314+2T>G - IntronicSNV - 10/17 3
7-140783019-A-T c.1314+2T>A - IntronicSNV - 10/17 1
7-140783020-C-A c.1314+1G>T - IntronicSNV - 10/17 1
7-140783021-C-A c.1314G>T p.M438I Missense 10/18 - 2
7-140783021-CCAT-C c.1312_1314del p.M438del InFrameDeletion 10/18 - 1
7-140783021-C-G c.1314G>C p.M438I Missense 10/18 - 1
7-140783021-C-T c.1314G>A p.M438I Missense 10/18 - 1
7-140783022-A-G c.1313T>C p.M438T Missense 10/18 - 1
7-140783023-T-C c.1312A>G p.M438V Missense 10/18 - 1
7-140783024-T-C c.1311A>G p.R437= Synonymous 10/18 - 1
7-140783024-TC-AT c.1310_1311delinsAT p.R437H Missense 10/18 - 1
7-140783024-TCG-ACA c.1309_1311delinsTGT p.R437C Missense 10/18 - 1
7-140783025-C-A c.1310G>T p.R437L Missense 10/18 - 1
7-140783025-CG-GC c.1309_1310delinsGC p.R437A Missense 10/18 - 1
7-140783025-C-T c.1310G>A p.R437Q Missense 10/18 - 4
7-140783025-TC-T c.1310del p.R437Qfs*2 Frameshift 10/18 - 1
7-140783026-G-A c.1309C>T p.R437* Nonsense 10/18 - 3
7-140783026-G-C c.1309C>G p.R437G Missense 10/18 - 1
7-140783027-A-T c.1308T>A p.N436K Missense 10/18 - 1
7-140783029-T-G c.1306A>C p.N436H Missense 10/18 - 1
7-140783030-C-A c.1305G>T p.R435S Missense 10/18 - 5
7-140783030-CCT-ATG c.1303_1305delinsCAT p.R435H Missense 10/18 - 1
7-140783030-C-G c.1305G>C p.R435S Missense 10/18 - 3
7-140783030-C-T c.1305G>A p.R435= Synonymous 10/18 - 3
7-140783032-T-G c.1303A>C p.R435= Synonymous 10/18 - 1
7-140783031-C-A c.1304G>T p.R435M Missense 10/18 - 1
7-140783031-C-T c.1304G>A p.R435K Missense 10/18 - 1
7-140783031-CT-TG c.1303_1304delinsCA p.R435Q Missense 10/18 - 1
7-140783032-T-A c.1303A>T p.R435W Missense 10/18 - 1
7-140783032-T-C c.1303A>G p.R435G Missense 10/18 - 4
7-140783033-G-T c.1302C>A p.D434E Missense 10/18 - 1
7-140783035-C-A c.1300G>T p.D434Y Missense 10/18 - 1
7-140783035-C-T c.1300G>A p.D434N Missense 10/18 - 4
7-140783036-T-A c.1299A>T p.E433D Missense 10/18 - 1
7-140783036-T-G c.1299A>C p.E433D Missense 10/18 - 1
7-140783038-C-G c.1297G>C p.E433Q Missense 10/18 - 1
7-140783038-C-T c.1297G>A p.E433K Missense 10/18 - 12
7-140783039-TG-AC c.1295_1296delinsGT p.S432C Missense 10/18 - 1
7-140783040-G-A c.1295C>T p.S432L Missense 10/18 - 2
7-140783040-G-C c.1295C>G p.S432* Nonsense 10/18 - 1
7-140783040-G-T c.1295C>A p.S432* Nonsense 10/18 - 2
7-140783041-A-G c.1294T>C p.S432P Missense 10/18 - 2
7-140783042-G-T c.1293C>A p.S431= Synonymous 10/18 - 1
7-140783043-G-A c.1292C>T p.S431F Missense 10/18 - 1
7-140783043-GA-TC c.1291_1292inv p.S431D Missense 10/18 - 1
7-140783043-G-T c.1292C>A p.S431Y Missense 10/18 - 1
7-140783044-A-C c.1291T>G p.S431A Missense 10/18 - 1
7-140783045-TG-AA c.1289_1290delinsTT p.S430F Missense 10/18 - 1
7-140783046-G-A c.1289C>T p.S430L Missense 10/18 - 1
7-140783046-G-T c.1289C>A p.S430* Nonsense 10/18 - 1
7-140783049-GA-CG c.1285_1286delinsCG p.S429R Missense 10/18 - 1
7-140783049-G-T c.1286C>A p.S429Y Missense 10/18 - 2
7-140783050-A-C c.1285T>G p.S429A Missense 10/18 - 2
7-140783050-GAT-G c.1284_1285del p.S429Ffs*14 Frameshift 10/18 - 1
7-140783052-G-A c.1283C>T p.S428L Missense 10/18 - 1
7-140783052-G-C c.1283C>G p.S428* Nonsense 10/18 - 1
7-140783052-G-T c.1283C>A p.S428* Nonsense 10/18 - 5
7-140783053-A-G c.1282T>C p.S428P Missense 10/18 - 1
7-140783053-A-T c.1282T>A p.S428T Missense 10/18 - 5
7-140783054-C-A c.1281G>T p.K427N Missense 10/18 - 1
7-140783055-T-C c.1280A>G p.K427R Missense 10/18 - 1
7-140783057-C-A c.1278G>T p.R426S Missense 10/18 - 1
7-140783057-C-T c.1278G>A p.R426= Synonymous 10/18 - 1
7-140783058-C-A c.1277G>T p.R426M Missense 10/18 - 1
7-140783058-CT-TG c.1276_1277delinsCA p.R426Q Missense 10/18 - 1
7-140783059-T-A c.1276A>T p.R426W Missense 10/18 - 1
7-140783062-C-A c.1273G>T p.E425* Nonsense 10/18 - 1
7-140783063-TCG-ACA c.1270_1272delinsTGT p.R424C Missense 10/18 - 1
7-140783063-TCG-CCA c.1270_1272delinsTGG p.R424W Missense 10/18 - 2
7-140783064-C-A c.1271G>T p.R424L Missense 10/18 - 4
7-140783064-CG-AT c.1270_1271delinsAT p.R424I Missense 10/18 - 1
7-140783064-CG-TT c.1270_1271delinsAA p.R424K Missense 10/18 - 1
7-140783064-C-T c.1271G>A p.R424Q Missense 10/18 - 6
7-140783065-G-A c.1270C>T p.R424* Nonsense 10/18 - 4
7-140783066-C-A c.1269G>T p.Q423H Missense 10/18 - 3
7-140783066-C-G c.1269G>C p.Q423H Missense 10/18 - 1
7-140783067-T-C c.1268A>G p.Q423R Missense 10/18 - 1
7-140783068-G-A c.1267C>T p.Q423* Nonsense 10/18 - 2
7-140783069-A-G c.1266T>C p.P422= Synonymous 10/18 - 1
7-140783070-G-A c.1265C>T p.P422L Missense 10/18 - 2
7-140783070-G-T c.1265C>A p.P422H Missense 10/18 - 1
7-140783071-G-A c.1264C>T p.P422S Missense 10/18 - 3
7-140783071-G-C c.1264C>G p.P422A Missense 10/18 - 3
7-140783072-T-A c.1263A>T p.G421= Synonymous 10/18 - 1
7-140783072-TCC-CCA c.1261_1263delinsTGG p.G421W Missense 10/18 - 1
7-140783073-C-A c.1262G>T p.G421V Missense 10/18 - 6
7-140783074-C-A c.1261G>T p.G421* Nonsense 10/18 - 1
7-140783074-C-G c.1261G>C p.G421R Missense 10/18 - 2
7-140783074-C-T c.1261G>A p.G421R Missense 10/18 - 3
7-140783075-T-C c.1260A>G p.P420= Synonymous 10/18 - 1
7-140783076-G-A c.1259C>T p.P420L Missense 10/18 - 1
7-140783077-G-A c.1258C>T p.P420S Missense 10/18 - 2
7-140783077-G-T c.1258C>A p.P420T Missense 10/18 - 1
7-140783078-A-G c.1257T>C p.S419= Synonymous 10/18 - 1
7-140783079-G-A c.1256C>T p.S419F Missense 10/18 - 2
7-140783079-GA-AG c.1255_1256delinsCT p.S419L Missense 10/18 - 1
7-140783079-G-T c.1256C>A p.S419Y Missense 10/18 - 7
7-140783080-A-C c.1255T>G p.S419A Missense 10/18 - 1
7-140783081-T-A c.1254A>T p.K418N Missense 10/18 - 1
7-140783081-T-G c.1254A>C p.K418N Missense 10/18 - 1
7-140783082-T-C c.1253A>G p.K418R Missense 10/18 - 2
7-140783080-AT-A c.1254del p.K418Nfs*21 Frameshift 10/18 - 1
7-140783083-T-G c.1252A>C p.K418Q Missense 10/18 - 1
7-140783084-C-A c.1251G>T p.Q417H Missense 10/18 - 3
7-140783084-C-G c.1251G>C p.Q417H Missense 10/18 - 1
7-140783086-G-A c.1249C>T p.Q417* Nonsense 10/18 - 1
7-140783088-A-G c.1247T>C p.L416S Missense 10/18 - 2
7-140783089-A-C c.1246T>G p.L416V Missense 10/18 - 1
7-140783089-A-G c.1246T>C p.L416= Synonymous 10/18 - 2
7-140783090-G-A c.1245C>T p.A415= Synonymous 10/18 - 1
7-140783091-G-A c.1244C>T p.A415V Missense 10/18 - 2
7-140783091-G-T c.1244C>A p.A415D Missense 10/18 - 1
7-140783092-C-A c.1243G>T p.A415S Missense 10/18 - 1
7-140783092-C-T c.1243G>A p.A415T Missense 10/18 - 3
7-140783093-T-A c.1242A>T p.K414N Missense 10/18 - 1
7-140783093-T-C c.1242A>G p.K414= Synonymous 10/18 - 1
7-140783093-T-G c.1242A>C p.K414N Missense 10/18 - 1
7-140783094-T-C c.1241A>G p.K414R Missense 10/18 - 1
7-140783095-T-C c.1240A>G p.K414E Missense 10/18 - 1
7-140783096-C-A c.1239G>T p.V413= Synonymous 10/18 - 3
7-140783096-CAC-GAT c.1237_1239delinsATC p.V413I Missense 10/18 - 1
7-140783096-C-G c.1239G>C p.V413= Synonymous 10/18 - 2
7-140783096-C-T c.1239G>A p.V413= Synonymous 10/18 - 3
7-140783098-C-A c.1237G>T p.V413L Missense 10/18 - 2
7-140783098-C-G c.1237G>C p.V413L Missense 10/18 - 1
7-140783098-C-T c.1237G>A p.V413M Missense 10/18 - 7
7-140783099-G-A c.1236C>T p.N412= Synonymous 10/18 - 3
7-140783099-G-C c.1236C>G p.N412K Missense 10/18 - 1
7-140783099-G-T c.1236C>A p.N412K Missense 10/18 - 1
7-140783100-T-C c.1235A>G p.N412S Missense 10/18 - 1
7-140783101-T-C c.1234A>G p.N412D Missense 10/18 - 1
7-140783101-T-G c.1234A>C p.N412H Missense 10/18 - 1
7-140783103-G-A c.1232C>T p.T411I Missense 10/18 - 3
7-140783104-T-C c.1231A>G p.T411A Missense 10/18 - 1
7-140783098-CGTTA-C c.1233_1236del p.N412* Frameshift 10/18 - 1
7-140783105-T-A c.1230A>T p.L410= Synonymous 10/18 - 1
7-140783105-T-C c.1230A>G p.L410= Synonymous 10/18 - 1
7-140783105-T-G c.1230A>C p.L410= Synonymous 10/18 - 2
7-140783107-G-A c.1228C>T p.L410= Synonymous 10/18 - 1
7-140783106-A-G c.1229T>C p.L410P Missense 10/18 - 1
7-140783106-A-T c.1229T>A p.L410Q Missense 10/18 - 2
7-140783107-G-T c.1228C>A p.L410I Missense 10/18 - 2
7-140783107-G-GT c.1227dup p.L410Tfs*3 Frameshift 10/18 - 1
7-140783108-T-A c.1227A>T p.S409= Synonymous 10/18 - 2
7-140783108-T-C c.1227A>G p.S409= Synonymous 10/18 - 4
7-140783108-TG-AA c.1226_1227delinsTT p.S409F Missense 10/18 - 1
7-140783109-G-A c.1226C>T p.S409L Missense 10/18 - 4
7-140783109-G-C c.1226C>G p.S409* Nonsense 10/18 - 1
7-140783109-G-T c.1226C>A p.S409* Nonsense 10/18 - 2
7-140783110-A-C c.1225T>G p.S409A Missense 10/18 - 1
7-140783110-A-G c.1225T>C p.S409P Missense 10/18 - 1
7-140783110-A-T c.1225T>A p.S409T Missense 10/18 - 1
7-140783111-G-A c.1224C>T p.G408= Synonymous 10/18 - 1
7-140783112-C-A c.1223G>T p.G408V Missense 10/18 - 1
7-140783112-C-T c.1223G>A p.G408D Missense 10/18 - 1
7-140783113-C-A c.1222G>T p.G408C Missense 10/18 - 1
7-140783115-G-A c.1220C>T p.P407L Missense 10/18 - 4
7-140783115-G-T c.1220C>A p.P407H Missense 10/18 - 2
7-140783116-G-A c.1219C>T p.P407S Missense 10/18 - 1
7-140783118-A-G c.1217T>C p.L406S Missense 10/18 - 1
7-140783120-TG-AC c.1214_1215delinsGT p.S405C Missense 10/18 - 1
7-140783121-G-A c.1214C>T p.S405L Missense 10/18 - 3
7-140783122-A-C c.1213T>G p.S405A Missense 10/18 - 1
7-140783122-A-G c.1213T>C p.S405P Missense 10/18 - 1
7-140783123-G-T c.1212C>A p.A404= Synonymous 10/18 - 1
7-140783122-AG-A c.1212del p.S405Hfs*6 Frameshift 10/18 - 1
7-140783124-G-A c.1211C>T p.A404V Missense 10/18 - 1
7-140783124-GC-CA c.1210_1211delinsTG p.A404C Missense 10/18 - 1
7-140783124-G-T c.1211C>A p.A404D Missense 10/18 - 1
7-140783125-C-A c.1210G>T p.A404S Missense 10/18 - 2
7-140783125-C-CG c.1209_1210insC p.A404Rfs*9 Frameshift 10/18 - 3
7-140783125-C-G c.1210G>C p.A404P Missense 10/18 - 1
7-140783125-C-T c.1210G>A p.A404T Missense 10/18 - 1
7-140783125-C-CA c.1209dup p.A404Cfs*9 Frameshift 10/18 - 6
7-140783126-CA-C c.1209del p.A404Pfs*7 Frameshift 10/18 - 1
7-140783127-G-A c.1208C>T p.P403L Missense 10/18 - 5
7-140783128-G-A c.1207C>T p.P403S Missense 10/18 - 3
7-140783128-G-C c.1207C>G p.P403A Missense 10/18 - 2
7-140783128-G-T c.1207C>A p.P403T Missense 10/18 - 1
7-140783129-G-A c.1206C>T p.P402= Synonymous 10/18 - 1
7-140783129-G-C c.1206C>G p.P402= Synonymous 10/18 - 1
7-140783129-G-T c.1206C>A p.P402= Synonymous 10/18 - 1
7-140783130-G-A c.1205C>T p.P402L Missense 10/18 - 6
7-140783130-G-C c.1205C>G p.P402R Missense 10/18 - 3
7-140783130-G-T c.1205C>A p.P402H Missense 10/18 - 4
7-140783131-G-A c.1204C>T p.P402S Missense 10/18 - 1
7-140783131-G-C c.1204C>G p.P402A Missense 10/18 - 2
7-140783132-G-A c.1203C>T p.T401= Synonymous 10/18 - 3
7-140783132-G-C c.1203C>G p.T401= Synonymous 10/18 - 1
7-140783132-GG-CA c.1202_1203delinsTG p.T401M Missense 10/18 - 1
7-140783132-G-T c.1203C>A p.T401= Synonymous 10/18 - 3
7-140783126-A-AG c.1208dup p.A404Cfs*9 Frameshift 10/18 - 21
7-140783126-AG-A c.1208del p.P403Lfs*8 Frameshift 10/18 - 19
7-140783133-G-A c.1202C>T p.T401I Missense 10/18 - 9
7-140783134-T-C c.1201A>G p.T401A Missense 10/18 - 5
7-140783135-AG-CT c.1199_1200inv p.A400E Missense 10/18 - 1
7-140783136-G-A c.1199C>T p.A400V Missense 10/18 - 5
7-140783136-G-T c.1199C>A p.A400D Missense 10/18 - 1
7-140783137-C-A c.1198G>T p.A400S Missense 10/18 - 2
7-140783137-C-T c.1198G>A p.A400T Missense 10/18 - 1
7-140783139-GA-AT c.1195_1196delinsAT p.S399I Missense 10/18 - 1
7-140783139-GA-CG c.1195_1196delinsCG p.S399R Missense 10/18 - 1
7-140783140-A-C c.1195T>G p.S399A Missense 10/18 - 1
7-140783141-C-A c.1194G>T p.L398F Missense 10/18 - 2
7-140783142-AA-GG c.1192_1193delinsCC p.L398P Missense 10/18 - 1
7-140783142-A-T c.1193T>A p.L398* Nonsense 10/18 - 2
7-140783145-C-A c.1190G>T p.G397V Missense 10/18 - 1
7-140783145-C-T c.1190G>A p.G397D Missense 10/18 - 3
7-140783146-C-A c.1189G>T p.G397C Missense 10/18 - 3
7-140783146-C-T c.1189G>A p.G397S Missense 10/18 - 5
7-140783147-T-A c.1188A>T p.T396= Synonymous 10/18 - 2
7-140783147-T-C c.1188A>G p.T396= Synonymous 10/18 - 2
7-140783147-T-G c.1188A>C p.T396= Synonymous 10/18 - 1
7-140783148-G-A c.1187C>T p.T396I Missense 10/18 - 1
7-140783148-G-GCC c.1186_1187insGG p.T396Rfs*16 Frameshift 10/18 - 1
7-140783150-G-A c.1185C>T p.T395= Synonymous 10/18 - 1
7-140783150-G-T c.1185C>A p.T395= Synonymous 10/18 - 1
7-140783152-T-C c.1183A>G p.T395A Missense 10/18 - 4
7-140783152-T-G c.1183A>C p.T395P Missense 10/18 - 1
7-140783153-T-C c.1182A>G p.S394= Synonymous 10/18 - 1
7-140783153-TG-AA c.1181_1182delinsTT p.S394F Missense 10/18 - 2
7-140783153-TGA-GTC c.1180_1182delinsGAC p.S394D Missense 10/18 - 1
7-140783154-G-A c.1181C>T p.S394L Missense 10/18 - 2
7-140783154-G-C c.1181C>G p.S394* Nonsense 10/18 - 5
7-140783154-G-T c.1181C>A p.S394* Nonsense 10/18 - 1
7-140783155-A-C c.1180T>G p.S394A Missense 10/18 - 2
7-140783155-A-G c.1180T>C p.S394P Missense 10/18 - 2
7-140783156-TC-GT c.1178_1179delinsAC p.G393D Missense 10/18 - 5
7-140783157-C-A c.1178G>T p.G393V Missense 10/18 - 1
7-140783157-C-T c.1178G>A p.G393E Missense 10/18 - 1
7-140783167-T-A c.1178-10A>T - IntronicSNV - 9/17 1
7-140783167-T-C c.1178-10A>G - IntronicSNV - 9/17 1
7-140783237-A-G c.1178-80T>C - IntronicSNV - 9/17 3
7-140783261-G-C c.1178-104C>G - IntronicSNV - 9/17 1
7-140783431-A-T c.1178-274T>A - IntronicSNV - 9/17 2
7-140783531-T-A c.1178-374A>T - IntronicSNV - 9/17 1
7-140783587-A-T c.1178-430T>A - IntronicSNV - 9/17 1
7-140783600-T-C c.1178-443A>G - IntronicSNV - 9/17 4
7-140783805-C-T c.1178-648G>A - IntronicSNV - 9/17 3
7-140784448-A-T c.1178-1291T>A - IntronicSNV - 9/17 1
7-140785434-G-A c.1177+2114C>T - IntronicSNV - 9/17 1
7-140785497-C-T c.1177+2051G>A - IntronicSNV - 9/17 2
7-140785534-G-A c.1177+2014C>T - IntronicSNV - 9/17 1
7-140785535-T-C c.1177+2013A>G - IntronicSNV - 9/17 3
7-140785744-T-G c.1177+1804A>C - IntronicSNV - 9/17 2
7-140785753-A-G c.1177+1795T>C - IntronicSNV - 9/17 1
7-140785795-C-T c.1177+1753G>A - IntronicSNV - 9/17 2
7-140785890-C-A c.1177+1658G>T - IntronicSNV - 9/17 4
7-140785890-C-T c.1177+1658G>A - IntronicSNV - 9/17 4
7-140785914-T-C c.1177+1634A>G - IntronicSNV - 9/17 1
7-140785927-G-A c.1177+1621C>T - IntronicSNV - 9/17 2
7-140786053-T-C c.1177+1495A>G - IntronicSNV - 9/17 1
7-140786106-C-G c.1177+1442G>C - IntronicSNV - 9/17 1
7-140786166-T-C c.1177+1382A>G - IntronicSNV - 9/17 1
7-140786172-A-G c.1177+1376T>C - IntronicSNV - 9/17 1
7-140786185-GA-G c.1177+1362del - IntronicDeletion - 9/17 1
7-140786312-T-A c.1177+1236A>T - IntronicSNV - 9/17 1
7-140786318-C-T c.1177+1230G>A - IntronicSNV - 9/17 2
7-140786396-G-C c.1177+1152C>G - IntronicSNV - 9/17 1
7-140786488-C-T c.1177+1060G>A - IntronicSNV - 9/17 3
7-140786713-A-G c.1177+835T>C - IntronicSNV - 9/17 3
7-140786943-T-C c.1177+605A>G - IntronicSNV - 9/17 3
7-140787279-C-A c.1177+269G>T - IntronicSNV - 9/17 1
7-140787279-C-T c.1177+269G>A - IntronicSNV - 9/17 2
7-140787300-CAAAA-C c.1177+244_1177+247del - IntronicDeletion - 9/17 1
7-140787300-CAA-C c.1177+246_1177+247del - IntronicDeletion - 9/17 1
7-140787300-C-CA c.1177+247dup - IntronicInsertion - 9/17 1
7-140787390-G-A c.1177+158C>T - IntronicSNV - 9/17 1
7-140787402-C-A c.1177+146G>T - IntronicSNV - 9/17 5
7-140787402-C-T c.1177+146G>A - IntronicSNV - 9/17 10
7-140787547-C-A c.1177+1G>T - IntronicSNV - 9/17 1
7-140787547-C-T c.1177+1G>A - IntronicSNV - 9/17 1
7-140787548-C-A c.1177G>T p.G393* Nonsense 9/18 - 3
7-140787548-C-G c.1177G>C p.G393R Missense 9/18 - 1
7-140787548-C-T c.1177G>A p.G393R Missense 9/18 - 4
7-140787549-T-A c.1176A>T p.G392= Synonymous 9/18 - 1
7-140787549-T-C c.1176A>G p.G392= Synonymous 9/18 - 1
7-140787550-C-A c.1175G>T p.G392V Missense 9/18 - 2
7-140787550-C-T c.1175G>A p.G392E Missense 9/18 - 1
7-140787549-TC-T c.1175del p.G392Efs*19 Frameshift 9/18 - 1
7-140787551-C-A c.1174G>T p.G392* Nonsense 9/18 - 2
7-140787551-C-T c.1174G>A p.G392R Missense 9/18 - 1
7-140787552-A-T c.1173T>A p.D391E Missense 9/18 - 1
7-140787553-T-C c.1172A>G p.D391G Missense 9/18 - 1
7-140787554-C-A c.1171G>T p.D391Y Missense 9/18 - 1
7-140787554-TC-T c.1171del p.D391Mfs*20 Frameshift 9/18 - 1
7-140787556-C-A c.1169G>T p.G390V Missense 9/18 - 3
7-140787556-C-T c.1169G>A p.G390D Missense 9/18 - 2
7-140787557-C-A c.1168G>T p.G390C Missense 9/18 - 1
7-140787557-C-G c.1168G>C p.G390R Missense 9/18 - 2
7-140787557-C-T c.1168G>A p.G390S Missense 9/18 - 1
7-140787558-ACG-TCA c.1165_1167delinsTGA p.R389* Nonsense 9/18 - 1
7-140787559-C-A c.1166G>T p.R389L Missense 9/18 - 1
7-140787559-C-T c.1166G>A p.R389H Missense 9/18 - 10
7-140787560-G-A c.1165C>T p.R389C Missense 9/18 - 26
7-140787560-G-C c.1165C>G p.R389G Missense 9/18 - 2
7-140787560-G-T c.1165C>A p.R389S Missense 9/18 - 1
7-140787561-A-C c.1164T>G p.F388L Missense 9/18 - 3
7-140787561-A-T c.1164T>A p.F388L Missense 9/18 - 3
7-140787563-A-G c.1162T>C p.F388L Missense 9/18 - 3
7-140787565-C-A c.1160G>T p.G387V Missense 9/18 - 2
7-140787566-C-T c.1159G>A p.G387R Missense 9/18 - 1
7-140787567-T-C c.1158A>G p.Q386= Synonymous 9/18 - 1
7-140787568-T-A c.1157A>T p.Q386L Missense 9/18 - 2
7-140787568-T-C c.1157A>G p.Q386R Missense 9/18 - 1
7-140787568-T-G c.1157A>C p.Q386P Missense 9/18 - 3
7-140787569-G-A c.1156C>T p.Q386* Nonsense 9/18 - 1
7-140787569-G-T c.1156C>A p.Q386K Missense 9/18 - 2
7-140787571-T-C c.1154A>G p.D385G Missense 9/18 - 1
7-140787571-T-G c.1154A>C p.D385A Missense 9/18 - 1
7-140787572-C-A c.1153G>T p.D385Y Missense 9/18 - 1
7-140787572-C-G c.1153G>C p.D385H Missense 9/18 - 1
7-140787572-C-T c.1153G>A p.D385N Missense 9/18 - 5
7-140787573-T-C c.1152A>G p.R384= Synonymous 9/18 - 1
7-140787573-TCT-ATG c.1150_1152delinsCAT p.R384H Missense 9/18 - 1
7-140787575-T-G c.1150A>C p.R384= Synonymous 9/18 - 1
7-140787574-C-A c.1151G>T p.R384I Missense 9/18 - 1
7-140787574-C-G c.1151G>C p.R384T Missense 9/18 - 3
7-140787574-C-T c.1151G>A p.R384K Missense 9/18 - 1
7-140787575-T-A c.1150A>T p.R384* Nonsense 9/18 - 1
7-140787575-T-C c.1150A>G p.R384G Missense 9/18 - 5
7-140787575-T-TA c.1149dup p.R384* Nonsense 9/18 - 2
7-140787579-C-A c.1146G>T p.L382F Missense 9/18 - 2
7-140787579-C-G c.1146G>C p.L382F Missense 9/18 - 1
7-140787580-AA-GG c.1144_1145delinsCC p.L382P Missense 9/18 - 1
7-140787580-A-G c.1145T>C p.L382S Missense 9/18 - 1
7-140787579-C-T c.1146G>A p.L382= Synonymous 9/18 - 1
7-140787581-A-C c.1144T>G p.L382V Missense 9/18 - 1
7-140787581-A-G c.1144T>C p.L382= Synonymous 9/18 - 1
7-140787581-A-T c.1144T>A p.L382M Missense 9/18 - 1
7-140787582-G-A c.1143C>T p.D381= Synonymous 9/18 - 1
7-140787583-T-C c.1142A>G p.D381G Missense 9/18 - 2
7-140787584-C-A c.1141G>T p.D381Y Missense 9/18 - 2
7-140787584-C-T c.1141G>A p.D381N Missense 9/18 - 1
7-140787586-T-C c.1141-2A>G - IntronicSNV - 8/17 1
7-140787603-G-A c.1141-19C>T - IntronicSNV - 8/17 1
7-140787665-C-T c.1141-81G>A - IntronicSNV - 8/17 1
7-140787694-C-T c.1141-110G>A - IntronicSNV - 8/17 1
7-140788113-C-A c.1141-529G>T - IntronicSNV - 8/17 2
7-140788356-T-G c.1141-772A>C - IntronicSNV - 8/17 3
7-140788889-A-G c.1141-1305T>C - IntronicSNV - 8/17 1
7-140789373-A-G c.1141-1789T>C - IntronicSNV - 8/17 1
7-140789708-C-G c.1141-2124G>C - IntronicSNV - 8/17 1
7-140789762-C-T c.1141-2178G>A - IntronicSNV - 8/17 1
7-140790407-T-C c.1141-2823A>G - IntronicSNV - 8/17 4
7-140790582-C-T c.1141-2998G>A - IntronicSNV - 8/17 3
7-140790705-C-T c.1141-3121G>A - IntronicSNV - 8/17 1
7-140790835-A-G c.1141-3251T>C - IntronicSNV - 8/17 1
7-140791128-C-A c.1140+3180G>T - IntronicSNV - 8/17 4
7-140791138-CA-C c.1140+3169del - IntronicDeletion - 8/17 1
7-140791324-C-T c.1140+2984G>A - IntronicSNV - 8/17 1
7-140791458-C-T c.1140+2850G>A - IntronicSNV - 8/17 3
7-140791464-G-A c.1140+2844C>T - IntronicSNV - 8/17 1
7-140791878-G-A c.1140+2430C>T - IntronicSNV - 8/17 3
7-140792072-A-G c.1140+2236T>C - IntronicSNV - 8/17 1
7-140792177-C-A c.1140+2131G>T - IntronicSNV - 8/17 1
7-140792239-T-C c.1140+2069A>G - IntronicSNV - 8/17 6
7-140792611-T-C c.1140+1697A>G - IntronicSNV - 8/17 3
7-140793079-G-A c.1140+1229C>T - IntronicSNV - 8/17 1
7-140793229-A-G c.1140+1079T>C - IntronicSNV - 8/17 3
7-140793425-T-C c.1140+883A>G - IntronicSNV - 8/17 2
7-140793551-T-C c.1140+757A>G - IntronicSNV - 8/17 3
7-140793660-C-A c.1140+648G>T - IntronicSNV - 8/17 1
7-140793660-C-G c.1140+648G>C - IntronicSNV - 8/17 2
7-140793833-C-A c.1140+475G>T - IntronicSNV - 8/17 1
7-140794082-G-A c.1140+226C>T - IntronicSNV - 8/17 1
7-140794120-G-A c.1140+188C>T - IntronicSNV - 8/17 1
7-140794273-G-GT c.1140+34dup - IntronicInsertion - 8/17 1
7-140794273-GT-G c.1140+34del - IntronicDeletion - 8/17 3
7-140794290-G-T c.1140+18C>A - IntronicSNV - 8/17 1
7-140794299-G-A c.1140+9C>T - IntronicSNV - 8/17 1
7-140794299-G-T c.1140+9C>A - IntronicSNV - 8/17 1
7-140794307-C-A c.1140+1G>T - IntronicSNV - 8/17 1
7-140794307-C-T c.1140+1G>A - IntronicSNV - 8/17 1
7-140794308-CATCAATATTGACAGGTTCTATTGTGTTTATATGCACATTGGGAGCTGATGAGGATCGGT-C c.1082_1140del p.D361Gfs*4 Unclassified 8/18 - 1
7-140794307-CATCA-C c.1137_1140del p.I379Mfs*3 SpliceDonorDeletion 8/18 - 2
7-140794310-C-A c.1138G>T p.D380Y Missense 8/18 - 5
7-140794310-C-G c.1138G>C p.D380H Missense 8/18 - 8
7-140794310-C-T c.1138G>A p.D380N Missense 8/18 - 2
7-140794315-T-A c.1133A>T p.N378I Missense 8/18 - 1
7-140794315-T-C c.1133A>G p.N378S Missense 8/18 - 1
7-140794316-T-C c.1132A>G p.N378D Missense 8/18 - 1
7-140794317-GA-CT c.1130_1131delinsAG p.V377E Missense 8/18 - 1
7-140794318-A-T c.1130T>A p.V377D Missense 8/18 - 2
7-140794319-C-A c.1129G>T p.V377F Missense 8/18 - 2
7-140794320-A-G c.1128T>C p.P376= Synonymous 8/18 - 1
7-140794320-A-T c.1128T>A p.P376= Synonymous 8/18 - 1
7-140794321-G-A c.1127C>T p.P376L Missense 8/18 - 1
7-140794322-G-A c.1126C>T p.P376S Missense 8/18 - 1
7-140794322-G-T c.1126C>A p.P376T Missense 8/18 - 1
7-140794323-T-A c.1125A>T p.E375D Missense 8/18 - 4
7-140794323-T-G c.1125A>C p.E375D Missense 8/18 - 2
7-140794324-T-C c.1124A>G p.E375G Missense 8/18 - 1
7-140794325-C-A c.1123G>T p.E375* Nonsense 8/18 - 6
7-140794325-C-G c.1123G>C p.E375Q Missense 8/18 - 1
7-140794325-C-T c.1123G>A p.E375K Missense 8/18 - 2
7-140794326-T-A c.1122A>T p.I374= Synonymous 8/18 - 1
7-140794326-T-G c.1122A>C p.I374= Synonymous 8/18 - 1
7-140794328-T-C c.1120A>G p.I374V Missense 8/18 - 2
7-140794331-T-A c.1117A>T p.T373S Missense 8/18 - 3
7-140794331-T-C c.1117A>G p.T373A Missense 8/18 - 1
7-140794332-G-C c.1116C>G p.N372K Missense 8/18 - 1
7-140794332-G-T c.1116C>A p.N372K Missense 8/18 - 1
7-140794335-T-A c.1113A>T p.I371= Synonymous 8/18 - 1
7-140794335-T-G c.1113A>C p.I371= Synonymous 8/18 - 1
7-140794337-T-A c.1111A>T p.I371L Missense 8/18 - 1
7-140794340-G-A c.1108C>T p.H370Y Missense 8/18 - 2
7-140794340-G-GTACGTTAGGTGCGCTGCTGCTCCTGTCCCTTTGACCAAATTGGTTCCTATGGTCCTCGTCTGCCCACTCAAGCTC c.1107_1108insGAGCTTGAGTGGGCAGACGAGGACCATAGGAACCAATTTGGTCAAAGGGACAGGAGCAGCAGCGCACCTAACGTA p.V369_H370insELEWADEDHRNQFGQRDRSSSAPNV InFrameInsertion 8/18 - 1
7-140794341-C-A c.1107G>T p.V369= Synonymous 8/18 - 2
7-140794341-C-G c.1107G>C p.V369= Synonymous 8/18 - 2
7-140794341-C-T c.1107G>A p.V369= Synonymous 8/18 - 2
7-140794342-A-G c.1106T>C p.V369A Missense 8/18 - 1
7-140794342-A-T c.1106T>A p.V369E Missense 8/18 - 1
7-140794343-C-A c.1105G>T p.V369L Missense 8/18 - 1
7-140794343-C-T c.1105G>A p.V369M Missense 8/18 - 1
7-140794345-T-C c.1103A>G p.N368S Missense 8/18 - 2
7-140794345-T-G c.1103A>C p.N368T Missense 8/18 - 1
7-140794346-T-A c.1102A>T p.N368Y Missense 8/18 - 1
7-140794347-G-A c.1101C>T p.P367= Synonymous 8/18 - 2
7-140794347-G-C c.1101C>G p.P367= Synonymous 8/18 - 1
7-140794347-G-T c.1101C>A p.P367= Synonymous 8/18 - 2
7-140794348-G-A c.1100C>T p.P367L Missense 8/18 - 8
7-140794348-G-C c.1100C>G p.P367R Missense 8/18 - 7
7-140794349-G-A c.1099C>T p.P367S Missense 8/18 - 21
7-140794349-G-T c.1099C>A p.P367T Missense 8/18 - 1
7-140794351-G-A c.1097C>T p.A366V Missense 8/18 - 1
7-140794351-G-C c.1097C>G p.A366G Missense 8/18 - 1
7-140794351-G-GC c.1096dup p.A366Gfs*15 Frameshift 8/18 - 1
7-140794352-C-A c.1096G>T p.A366S Missense 8/18 - 1
7-140794352-C-G c.1096G>C p.A366P Missense 8/18 - 2
7-140794352-C-T c.1096G>A p.A366T Missense 8/18 - 2
7-140794353-T-A c.1095A>T p.S365= Synonymous 8/18 - 1
7-140794353-T-C c.1095A>G p.S365= Synonymous 8/18 - 2
7-140794353-T-G c.1095A>C p.S365= Synonymous 8/18 - 1
7-140794354-G-A c.1094C>T p.S365L Missense 8/18 - 11
7-140794354-G-C c.1094C>G p.S365* Nonsense 8/18 - 2
7-140794354-G-T c.1094C>A p.S365* Nonsense 8/18 - 1
7-140794355-A-C c.1093T>G p.S365A Missense 8/18 - 15
7-140794355-A-G c.1093T>C p.S365P Missense 8/18 - 1
7-140794356-T-A c.1092A>T p.S364= Synonymous 8/18 - 1
7-140794356-TG-CC c.1091_1092delinsGG p.S364W Missense 8/18 - 1
7-140794357-G-A c.1091C>T p.S364L Missense 8/18 - 9
7-140794357-G-T c.1091C>A p.S364* Nonsense 8/18 - 1
7-140794358-A-G c.1090T>C p.S364P Missense 8/18 - 1
7-140794359-G-A c.1089C>T p.S363= Synonymous 8/18 - 5
7-140794359-G-C c.1089C>G p.S363= Synonymous 8/18 - 3
7-140794359-G-T c.1089C>A p.S363= Synonymous 8/18 - 4
7-140794360-G-A c.1088C>T p.S363F Missense 8/18 - 6
7-140794360-GA-TT c.1087_1088delinsAA p.S363N Missense 8/18 - 1
7-140794360-G-GA c.1087dup p.S363Ffs*18 Frameshift 8/18 - 1
7-140794361-A-G c.1087T>C p.S363P Missense 8/18 - 1
7-140794361-A-T c.1087T>A p.S363T Missense 8/18 - 1
7-140794363-C-A c.1085G>T p.R362L Missense 8/18 - 3
7-140794363-C-G c.1085G>C p.R362P Missense 8/18 - 2
7-140794363-C-T c.1085G>A p.R362Q Missense 8/18 - 14
7-140794362-T-A c.1086A>T p.R362= Synonymous 8/18 - 1
7-140794362-T-C c.1086A>G p.R362= Synonymous 8/18 - 1
7-140794362-T-G c.1086A>C p.R362= Synonymous 8/18 - 1
7-140794364-G-A c.1084C>T p.R362* Nonsense 8/18 - 7
7-140794364-G-T c.1084C>A p.R362= Synonymous 8/18 - 2
7-140794365-G-A c.1083C>T p.D361= Synonymous 8/18 - 1
7-140794366-T-A c.1082A>T p.D361V Missense 8/18 - 1
7-140794366-T-C c.1082A>G p.D361G Missense 8/18 - 3
7-140794367-C-A c.1081G>T p.D361Y Missense 8/18 - 1
7-140794367-C-T c.1081G>A p.D361N Missense 8/18 - 1
7-140794368-TC-AT c.1079_1080delinsAT p.R360H Missense 8/18 - 1
7-140794368-TCG-ACA c.1078_1080delinsTGT p.R360C Missense 8/18 - 2
7-140794368-TCG-CAT c.1078_1080delinsATG p.R360M Missense 8/18 - 1
7-140794368-TCG-CCA c.1078_1080delinsTGG p.R360W Missense 8/18 - 1
7-140794369-C-A c.1079G>T p.R360L Missense 8/18 - 1
7-140794369-C-G c.1079G>C p.R360P Missense 8/18 - 1
7-140794369-CG-AT c.1078_1079delinsAT p.R360I Missense 8/18 - 1
7-140794369-C-T c.1079G>A p.R360Q Missense 8/18 - 6
7-140794368-T-A c.1080A>T p.R360= Synonymous 8/18 - 2
7-140794368-T-C c.1080A>G p.R360= Synonymous 8/18 - 3
7-140794368-T-G c.1080A>C p.R360= Synonymous 8/18 - 2
7-140794370-G-A c.1078C>T p.R360* Nonsense 8/18 - 4
7-140794370-G-T c.1078C>A p.R360= Synonymous 8/18 - 2
7-140794373-G-A c.1075C>T p.Q359* Nonsense 8/18 - 3
7-140794374-C-A c.1074G>T p.G358= Synonymous 8/18 - 1
7-140794374-CCC-ACA c.1072_1074delinsTGT p.G358C Missense 8/18 - 1
7-140794374-C-G c.1074G>C p.G358= Synonymous 8/18 - 3
7-140794374-C-T c.1074G>A p.G358= Synonymous 8/18 - 1
7-140794375-C-A c.1073G>T p.G358V Missense 8/18 - 1
7-140794375-C-G c.1073G>C p.G358A Missense 8/18 - 1
7-140794375-C-T c.1073G>A p.G358E Missense 8/18 - 2
7-140794376-C-A c.1072G>T p.G358W Missense 8/18 - 1
7-140794377-CAAA-C c.1069_1071del p.F357del InFrameDeletion 8/18 - 1
7-140794378-A-C c.1070T>G p.F357C Missense 8/18 - 1
7-140794378-A-G c.1070T>C p.F357S Missense 8/18 - 1
7-140794377-A-C c.1071T>G p.F357L Missense 8/18 - 1
7-140794377-A-T c.1071T>A p.F357L Missense 8/18 - 1
7-140794379-A-G c.1069T>C p.F357L Missense 8/18 - 1
7-140794381-T-C c.1067A>G p.Q356R Missense 8/18 - 1
7-140794381-T-G c.1067A>C p.Q356P Missense 8/18 - 1
7-140794382-G-A c.1066C>T p.Q356* Nonsense 8/18 - 1
7-140794382-G-C c.1066C>G p.Q356E Missense 8/18 - 2
7-140794382-G-T c.1066C>A p.Q356K Missense 8/18 - 3
7-140794384-T-A c.1064A>T p.N355I Missense 8/18 - 1
7-140794385-T-A c.1063A>T p.N355Y Missense 8/18 - 1
7-140794386-TCG-ACA c.1060_1062delinsTGT p.R354C Missense 8/18 - 1
7-140794387-C-A c.1061G>T p.R354L Missense 8/18 - 1
7-140794387-C-T c.1061G>A p.R354Q Missense 8/18 - 21
7-140794388-G-A c.1060C>T p.R354* Nonsense 8/18 - 10
7-140794388-G-GA c.1059dup p.R354Sfs*27 Frameshift 8/18 - 1
7-140794389-A-G c.1059T>C p.H353= Synonymous 8/18 - 1
7-140794390-T-C c.1058A>G p.H353R Missense 8/18 - 2
7-140794391-G-A c.1057C>T p.H353Y Missense 8/18 - 1
7-140794391-G-T c.1057C>A p.H353N Missense 8/18 - 2
7-140794392-GATC-G c.1054_1056del p.D352del InFrameDeletion 8/18 - 1
7-140794393-T-A c.1055A>T p.D352V Missense 8/18 - 1
7-140794393-T-C c.1055A>G p.D352G Missense 8/18 - 1
7-140794394-C-A c.1054G>T p.D352Y Missense 8/18 - 4
7-140794394-C-T c.1054G>A p.D352N Missense 8/18 - 2
7-140794395-T-C c.1053A>G p.E351= Synonymous 8/18 - 1
7-140794396-T-C c.1052A>G p.E351G Missense 8/18 - 1
7-140794397-C-A c.1051G>T p.E351* Nonsense 8/18 - 1
7-140794397-C-T c.1051G>A p.E351K Missense 8/18 - 2
7-140794398-A-C c.1050T>G p.D350E Missense 8/18 - 2
7-140794398-A-T c.1050T>A p.D350E Missense 8/18 - 2
7-140794399-T-C c.1049A>G p.D350G Missense 8/18 - 1
7-140794399-T-G c.1049A>C p.D350A Missense 8/18 - 2
7-140794400-C-A c.1048G>T p.D350Y Missense 8/18 - 2
7-140794400-C-G c.1048G>C p.D350H Missense 8/18 - 2
7-140794400-C-T c.1048G>A p.D350N Missense 8/18 - 1
7-140794401-T-C c.1047A>G p.A349= Synonymous 8/18 - 1
7-140794402-G-A c.1046C>T p.A349V Missense 8/18 - 2
7-140794402-G-C c.1046C>G p.A349G Missense 8/18 - 1
7-140794403-C-A c.1045G>T p.A349S Missense 8/18 - 2
7-140794403-C-G c.1045G>C p.A349P Missense 8/18 - 1
7-140794403-C-T c.1045G>A p.A349T Missense 8/18 - 3
7-140794404-T-A c.1044A>T p.P348= Synonymous 8/18 - 1
7-140794404-TGG-AAA c.1042_1044delinsTTT p.P348F Missense 8/18 - 1
7-140794405-G-T c.1043C>A p.P348Q Missense 8/18 - 1
7-140794406-G-T c.1042C>A p.P348T Missense 8/18 - 9
7-140794407-T-C c.1041A>G p.R347= Synonymous 8/18 - 3
7-140794407-TC-AT c.1040_1041delinsAT p.R347H Missense 8/18 - 6
7-140794407-TCG-ACA c.1039_1041delinsTGT p.R347C Missense 8/18 - 6
7-140794407-T-G c.1041A>C p.R347= Synonymous 8/18 - 2
7-140794408-C-A c.1040G>T p.R347L Missense 8/18 - 7
7-140794408-C-G c.1040G>C p.R347P Missense 8/18 - 2
7-140794408-C-T c.1040G>A p.R347Q Missense 8/18 - 14
7-140794407-T-A c.1041A>T p.R347= Synonymous 8/18 - 1
7-140794409-G-A c.1039C>T p.R347* Nonsense 8/18 - 16
7-140794409-G-T c.1039C>A p.R347= Synonymous 8/18 - 1
7-140794410-G-A c.1038C>T p.F346= Synonymous 8/18 - 1
7-140794411-A-T c.1037T>A p.F346Y Missense 8/18 - 1
7-140794410-G-C c.1038C>G p.F346L Missense 8/18 - 3
7-140794410-G-T c.1038C>A p.F346L Missense 8/18 - 4
7-140794412-A-C c.1036T>G p.F346V Missense 8/18 - 1
7-140794412-A-G c.1036T>C p.F346L Missense 8/18 - 5
7-140794412-A-T c.1036T>A p.F346I Missense 8/18 - 1
7-140794413-G-A c.1035C>T p.P345= Synonymous 8/18 - 5
7-140794413-G-C c.1035C>G p.P345= Synonymous 8/18 - 2
7-140794413-G-T c.1035C>A p.P345= Synonymous 8/18 - 2
7-140794414-G-A c.1034C>T p.P345L Missense 8/18 - 1
7-140794414-GG-TA c.1033_1034delinsTA p.P345Y Missense 8/18 - 1
7-140794414-G-T c.1034C>A p.P345H Missense 8/18 - 3
7-140794412-AG-A c.1035del p.F346Sfs*26 Frameshift 8/18 - 1
7-140794415-G-A c.1033C>T p.P345S Missense 8/18 - 2
7-140794415-G-T c.1033C>A p.P345T Missense 8/18 - 1
7-140794416-C-A c.1032G>T p.Q344H Missense 8/18 - 2
7-140794416-C-G c.1032G>C p.Q344H Missense 8/18 - 1
7-140794416-C-T c.1032G>A p.Q344= Synonymous 8/18 - 1
7-140794417-T-A c.1031A>T p.Q344L Missense 8/18 - 2
7-140794417-T-C c.1031A>G p.Q344R Missense 8/18 - 1
7-140794418-G-A c.1030C>T p.Q344* Nonsense 8/18 - 2
7-140794419-T-C c.1029A>G p.P343= Synonymous 8/18 - 1
7-140794420-G-A c.1028C>T p.P343L Missense 8/18 - 3
7-140794420-G-T c.1028C>A p.P343Q Missense 8/18 - 1
7-140794419-TG-T c.1028del p.P343Hfs*29 Frameshift 8/18 - 1
7-140794421-G-A c.1027C>T p.P343S Missense 8/18 - 4
7-140794421-G-T c.1027C>A p.P343T Missense 8/18 - 2
7-140794422-A-G c.1026T>C p.I342= Synonymous 8/18 - 1
7-140794422-A-T c.1026T>A p.I342= Synonymous 8/18 - 1
7-140794424-T-C c.1024A>G p.I342V Missense 8/18 - 3
7-140794425-T-A c.1023A>T p.P341= Synonymous 8/18 - 3
7-140794425-T-C c.1023A>G p.P341= Synonymous 8/18 - 3
7-140794425-T-G c.1023A>C p.P341= Synonymous 8/18 - 2
7-140794426-G-A c.1022C>T p.P341L Missense 8/18 - 1
7-140794426-G-T c.1022C>A p.P341Q Missense 8/18 - 1
7-140794427-G-A c.1021C>T p.P341S Missense 8/18 - 1
7-140794427-G-C c.1021C>G p.P341A Missense 8/18 - 1
7-140794429-A-G c.1019T>C p.I340T Missense 8/18 - 1
7-140794430-T-A c.1018A>T p.I340F Missense 8/18 - 2
7-140794431-G-A c.1017C>T p.S339= Synonymous 8/18 - 1
7-140794431-G-C c.1017C>G p.S339= Synonymous 8/18 - 1
7-140794431-G-T c.1017C>A p.S339= Synonymous 8/18 - 2
7-140794430-TG-T c.1017del p.I340Ffs*32 Frameshift 8/18 - 1
7-140794432-G-A c.1016C>T p.S339F Missense 8/18 - 2
7-140794432-G-C c.1016C>G p.S339C Missense 8/18 - 2
7-140794434-T-A c.1014A>T p.K338N Missense 8/18 - 1
7-140794434-T-G c.1014A>C p.K338N Missense 8/18 - 2
7-140794436-T-C c.1012A>G p.K338E Missense 8/18 - 2
7-140794437-T-A c.1011A>T p.S337= Synonymous 8/18 - 1
7-140794437-T-C c.1011A>G p.S337= Synonymous 8/18 - 1
7-140794437-T-G c.1011A>C p.S337= Synonymous 8/18 - 1
7-140794437-TG-AC c.1010_1011delinsGT p.S337C Missense 8/18 - 1
7-140794438-G-A c.1010C>T p.S337L Missense 8/18 - 4
7-140794438-G-C c.1010C>G p.S337* Nonsense 8/18 - 1
7-140794438-G-T c.1010C>A p.S337* Nonsense 8/18 - 2
7-140794439-A-G c.1009T>C p.S337P Missense 8/18 - 3
7-140794439-A-T c.1009T>A p.S337T Missense 8/18 - 1
7-140794440-A-G c.1008T>C p.P336= Synonymous 8/18 - 1
7-140794440-AG-TT c.1007_1008delinsAA p.P336Q Missense 8/18 - 1
7-140794441-G-A c.1007C>T p.P336L Missense 8/18 - 5
7-140794441-G-T c.1007C>A p.P336H Missense 8/18 - 1
7-140794442-G-A c.1006C>T p.P336S Missense 8/18 - 2
7-140794444-G-A c.1004C>T p.S335F Missense 8/18 - 1
7-140794444-G-C c.1004C>G p.S335C Missense 8/18 - 1
7-140794444-G-T c.1004C>A p.S335Y Missense 8/18 - 1
7-140794445-A-C c.1003T>G p.S335A Missense 8/18 - 1
7-140794446-C-A c.1002G>T p.P334= Synonymous 8/18 - 1
7-140794446-C-T c.1002G>A p.P334= Synonymous 8/18 - 2
7-140794447-G-A c.1001C>T p.P334L Missense 8/18 - 7
7-140794447-G-C c.1001C>G p.P334R Missense 8/18 - 1
7-140794447-G-T c.1001C>A p.P334Q Missense 8/18 - 1
7-140794448-G-A c.1000C>T p.P334S Missense 8/18 - 3
7-140794449-A-G c.999T>C p.S333= Synonymous 8/18 - 1
7-140794450-C-A c.998G>T p.S333I Missense 8/18 - 1
7-140794450-CT-AA c.997_998delinsTT p.S333F Missense 8/18 - 2
7-140794450-CT-TA c.997_998delinsTA p.S333Y Missense 8/18 - 1
7-140794452-G-A c.996C>T p.T332= Synonymous 8/18 - 1
7-140794452-G-T c.996C>A p.T332= Synonymous 8/18 - 1
7-140794453-G-A c.995C>T p.T332I Missense 8/18 - 5
7-140794454-T-A c.994A>T p.T332S Missense 8/18 - 2
7-140794454-T-C c.994A>G p.T332A Missense 8/18 - 1
7-140794455-G-A c.993C>T p.L331= Synonymous 8/18 - 3
7-140794455-G-C c.993C>G p.L331= Synonymous 8/18 - 1
7-140794455-G-T c.993C>A p.L331= Synonymous 8/18 - 2
7-140794457-G-A c.991C>T p.L331F Missense 8/18 - 4
7-140794458-A-G c.990T>C p.I330= Synonymous 8/18 - 2
7-140794458-A-T c.990T>A p.I330= Synonymous 8/18 - 1
7-140794461-T-A c.987A>T p.Q329H Missense 8/18 - 1
7-140794461-T-C c.987A>G p.Q329= Synonymous 8/18 - 1
7-140794461-T-G c.987A>C p.Q329H Missense 8/18 - 1
7-140794462-T-A c.986A>T p.Q329L Missense 8/18 - 3
7-140794462-T-C c.986A>G p.Q329R Missense 8/18 - 1
7-140794463-G-T c.985C>A p.Q329K Missense 8/18 - 1
7-140794464-G-A c.984C>T p.P328= Synonymous 8/18 - 1
7-140794464-G-T c.984C>A p.P328= Synonymous 8/18 - 1
7-140794465-G-A c.983C>T p.P328L Missense 8/18 - 2
7-140794465-G-T c.983C>A p.P328H Missense 8/18 - 1
7-140794466-G-A c.982C>T p.P328S Missense 8/18 - 2
7-140794466-G-T c.982C>A p.P328T Missense 8/18 - 1
7-140794467-C-A c.981G>T p.G327= Synonymous 8/18 - 1
7-140794509-G-A c.981-42C>T - IntronicSNV - 7/17 1
7-140795077-A-G c.981-610T>C - IntronicSNV - 7/17 2
7-140795635-G-A c.981-1168C>T - IntronicSNV - 7/17 2
7-140795635-G-T c.981-1168C>A - IntronicSNV - 7/17 2
7-140795742-C-T c.981-1275G>A - IntronicSNV - 7/17 2
7-140795773-T-A c.981-1306A>T - IntronicSNV - 7/17 3
7-140795773-T-C c.981-1306A>G - IntronicSNV - 7/17 3
7-140795773-T-G c.981-1306A>C - IntronicSNV - 7/17 3
7-140795776-T-C c.981-1309A>G - IntronicSNV - 7/17 1
7-140795783-A-C c.981-1316T>G - IntronicSNV - 7/17 2
7-140795798-C-T c.981-1331G>A - IntronicSNV - 7/17 2
7-140796403-A-G c.981-1936T>C - IntronicSNV - 7/17 3
7-140796763-T-C c.981-2296A>G - IntronicSNV - 7/17 4
7-140797023-C-A c.981-2556G>T - IntronicSNV - 7/17 2
7-140797427-A-C c.980+2935T>G - IntronicSNV - 7/17 1
7-140797786-A-T c.980+2576T>A - IntronicSNV - 7/17 2
7-140797907-A-G c.980+2455T>C - IntronicSNV - 7/17 1
7-140798216-A-G c.980+2146T>C - IntronicSNV - 7/17 1
7-140798755-G-A c.980+1607C>T - IntronicSNV - 7/17 1
7-140798858-T-C c.980+1504A>G - IntronicSNV - 7/17 2
7-140799000-C-T c.980+1362G>A - IntronicSNV - 7/17 1
7-140799017-T-C c.980+1345A>G - IntronicSNV - 7/17 1
7-140799012-A-AT c.980+1349dup - IntronicInsertion - 7/17 1
7-140799012-AT-A c.980+1349del - IntronicDeletion - 7/17 1
7-140799026-G-T c.980+1336C>A - IntronicSNV - 7/17 1
7-140799307-C-T c.980+1055G>A - IntronicSNV - 7/17 4
7-140799333-C-T c.980+1029G>A - IntronicSNV - 7/17 1
7-140799503-T-C c.980+859A>G - IntronicSNV - 7/17 1
7-140799879-G-T c.980+483C>A - IntronicSNV - 7/17 1
7-140800222-C-T c.980+140G>A - IntronicSNV - 7/17 1
7-140800335-C-T c.980+27G>A - IntronicSNV - 7/17 8
7-140800357-C-A c.980+5G>T - IntronicSNV - 7/17 1
7-140800361-C-A c.980+1G>T - IntronicSNV - 7/17 1
7-140800361-C-T c.980+1G>A - IntronicSNV - 7/17 1
7-140800362-C-A c.980G>T p.G327V Missense 7/18 - 1
7-140800362-C-G c.980G>C p.G327A Missense 7/18 - 1
7-140800362-C-T c.980G>A p.G327E Missense 7/18 - 2
7-140800363-C-A c.979G>T p.G327W Missense 7/18 - 2
7-140800363-C-T c.979G>A p.G327R Missense 7/18 - 1
7-140800365-A-G c.977T>C p.I326T Missense 7/18 - 6
7-140800365-A-T c.977T>A p.I326N Missense 7/18 - 2
7-140800366-T-A c.976A>T p.I326F Missense 7/18 - 1
7-140800366-T-C c.976A>G p.I326V Missense 7/18 - 19
7-140800367-A-G c.975T>C p.S325= Synonymous 7/18 - 1
7-140800368-G-A c.974C>T p.S325F Missense 7/18 - 2
7-140800368-G-C c.974C>G p.S325C Missense 7/18 - 1
7-140800370-G-A c.972C>T p.D324= Synonymous 7/18 - 1
7-140800372-C-A c.970G>T p.D324Y Missense 7/18 - 1
7-140800372-C-G c.970G>C p.D324H Missense 7/18 - 1
7-140800372-C-T c.970G>A p.D324N Missense 7/18 - 2
7-140800373-C-A c.969G>T p.S323= Synonymous 7/18 - 2
7-140800373-C-G c.969G>C p.S323= Synonymous 7/18 - 1
7-140800373-C-T c.969G>A p.S323= Synonymous 7/18 - 4
7-140800374-G-A c.968C>T p.S323L Missense 7/18 - 6
7-140800374-GA-TC c.967_968inv p.S323E Missense 7/18 - 1
7-140800374-G-T c.968C>A p.S323* Nonsense 7/18 - 1
7-140800375-A-C c.967T>G p.S323A Missense 7/18 - 2
7-140800375-A-G c.967T>C p.S323P Missense 7/18 - 2
7-140800375-A-T c.967T>A p.S323T Missense 7/18 - 1
7-140800377-G-A c.965C>T p.A322V Missense 7/18 - 2
7-140800378-C-A c.964G>T p.A322S Missense 7/18 - 2
7-140800378-C-T c.964G>A p.A322T Missense 7/18 - 5
7-140800379-G-A c.963C>T p.P321= Synonymous 7/18 - 3
7-140800379-G-C c.963C>G p.P321= Synonymous 7/18 - 1
7-140800379-G-T c.963C>A p.P321= Synonymous 7/18 - 2
7-140800380-G-A c.962C>T p.P321L Missense 7/18 - 4
7-140800380-GG-AA c.961_962delinsTT p.P321F Missense 7/18 - 1
7-140800378-C-CG c.963dup p.A322Rfs*30 Frameshift 7/18 - 1
7-140800381-G-A c.961C>T p.P321S Missense 7/18 - 3
7-140800382-T-A c.960A>T p.A320= Synonymous 7/18 - 1
7-140800382-T-C c.960A>G p.A320= Synonymous 7/18 - 1
7-140800382-T-G c.960A>C p.A320= Synonymous 7/18 - 1
7-140800383-G-A c.959C>T p.A320V Missense 7/18 - 3
7-140800383-G-C c.959C>G p.A320G Missense 7/18 - 1
7-140800384-C-A c.958G>T p.A320S Missense 7/18 - 3
7-140800384-C-T c.958G>A p.A320T Missense 7/18 - 14
7-140800385-G-A c.957C>T p.S319= Synonymous 7/18 - 5
7-140800385-G-C c.957C>G p.S319= Synonymous 7/18 - 3
7-140800385-G-T c.957C>A p.S319= Synonymous 7/18 - 3
7-140800386-G-A c.956C>T p.S319F Missense 7/18 - 1
7-140800387-A-C c.955T>G p.S319A Missense 7/18 - 1
7-140800387-A-G c.955T>C p.S319P Missense 7/18 - 3
7-140800388-A-G c.954T>C p.P318= Synonymous 7/18 - 1
7-140800389-G-A c.953C>T p.P318L Missense 7/18 - 3
7-140800389-GG-AA c.952_953delinsTT p.P318F Missense 7/18 - 3
7-140800389-G-T c.953C>A p.P318H Missense 7/18 - 1
7-140800390-G-A c.952C>T p.P318S Missense 7/18 - 7
7-140800390-G-C c.952C>G p.P318A Missense 7/18 - 1
7-140800390-G-T c.952C>A p.P318T Missense 7/18 - 1
7-140800391-G-A c.951C>T p.S317= Synonymous 7/18 - 1
7-140800391-G-C c.951C>G p.S317= Synonymous 7/18 - 1
7-140800391-G-T c.951C>A p.S317= Synonymous 7/18 - 1
7-140800392-G-A c.950C>T p.S317F Missense 7/18 - 2
7-140800392-G-C c.950C>G p.S317C Missense 7/18 - 1
7-140800393-A-G c.949T>C p.S317P Missense 7/18 - 4
7-140800394-T-A c.948A>T p.S316= Synonymous 7/18 - 2
7-140800394-T-C c.948A>G p.S316= Synonymous 7/18 - 2
7-140800394-T-G c.948A>C p.S316= Synonymous 7/18 - 2
7-140800394-TG-AA c.947_948delinsTT p.S316F Missense 7/18 - 1
7-140800394-TGA-GTT c.946_948delinsAAC p.S316N Missense 7/18 - 1
7-140800395-G-A c.947C>T p.S316L Missense 7/18 - 3
7-140800395-G-C c.947C>G p.S316* Nonsense 7/18 - 1
7-140800395-G-T c.947C>A p.S316* Nonsense 7/18 - 2
7-140800396-A-C c.946T>G p.S316A Missense 7/18 - 1
7-140800397-TCC-GCT c.943_945delinsAGC p.G315S Missense 7/18 - 2
7-140800398-C-A c.944G>T p.G315V Missense 7/18 - 2
7-140800398-C-G c.944G>C p.G315A Missense 7/18 - 1
7-140800398-C-T c.944G>A p.G315E Missense 7/18 - 1
7-140800399-C-A c.943G>T p.G315* Nonsense 7/18 - 1
7-140800399-C-G c.943G>C p.G315R Missense 7/18 - 1
7-140800399-C-T c.943G>A p.G315R Missense 7/18 - 1
7-140800400-AGA-TTG c.940_942delinsCAA p.S314Q Missense 7/18 - 1
7-140800401-G-A c.941C>T p.S314F Missense 7/18 - 3
7-140800399-CAGATGTTAGGGCAGTCTCTGCTAAGGACGCCTCTTCCTGTGGTATTGGGTGGTGTTCAA-C c.884_942del p.F295Wfs*37 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 7/18 - 1
7-140800402-A-G c.940T>C p.S314P Missense 7/18 - 1
7-140800403-T-A c.939A>T p.T313= Synonymous 7/18 - 1
7-140800403-T-C c.939A>G p.T313= Synonymous 7/18 - 1
7-140800407-A-C c.935T>G p.L312R Missense 7/18 - 1
7-140800407-A-G c.935T>C p.L312P Missense 7/18 - 1
7-140800408-G-T c.934C>A p.L312I Missense 7/18 - 4
7-140800409-G-A c.933C>T p.A311= Synonymous 7/18 - 3
7-140800410-G-A c.932C>T p.A311V Missense 7/18 - 2
7-140800411-C-A c.931G>T p.A311S Missense 7/18 - 2
7-140800411-C-T c.931G>A p.A311T Missense 7/18 - 1
7-140800412-A-G c.930T>C p.T310= Synonymous 7/18 - 1
7-140800413-G-A c.929C>T p.T310I Missense 7/18 - 8
7-140800413-G-C c.929C>G p.T310S Missense 7/18 - 1
7-140800413-G-T c.929C>A p.T310N Missense 7/18 - 1
7-140800414-T-A c.928A>T p.T310S Missense 7/18 - 1
7-140800415-C-A c.927G>T p.E309D Missense 7/18 - 2
7-140800415-C-G c.927G>C p.E309D Missense 7/18 - 1
7-140800416-T-C c.926A>G p.E309G Missense 7/18 - 1
7-140800417-C-A c.925G>T p.E309* Nonsense 7/18 - 13
7-140800417-C-T c.925G>A p.E309K Missense 7/18 - 2
7-140800416-TCTG-T c.923_925del p.A308del InFrameDeletion 7/18 - 1
7-140800419-G-A c.923C>T p.A308V Missense 7/18 - 2
7-140800420-C-A c.922G>T p.A308S Missense 7/18 - 3
7-140800420-C-T c.922G>A p.A308T Missense 7/18 - 3
7-140800421-T-C c.921A>G p.L307= Synonymous 7/18 - 1
7-140800422-AA-GG c.919_920delinsCC p.L307P Missense 7/18 - 1
7-140800422-A-G c.920T>C p.L307S Missense 7/18 - 1
7-140800423-A-C c.919T>G p.L307V Missense 7/18 - 1
7-140800424-G-C c.918C>G p.S306= Synonymous 7/18 - 1
7-140800425-G-A c.917C>T p.S306F Missense 7/18 - 1
7-140800426-A-G c.916T>C p.S306P Missense 7/18 - 1
7-140800426-A-AC c.915dup p.S306Vfs*46 Frameshift 7/18 - 1
7-140800427-C-A c.915G>T p.A305= Synonymous 7/18 - 1
7-140800427-C-T c.915G>A p.A305= Synonymous 7/18 - 3
7-140800428-G-A c.914C>T p.A305V Missense 7/18 - 10
7-140800428-G-C c.914C>G p.A305G Missense 7/18 - 1
7-140800429-C-A c.913G>T p.A305S Missense 7/18 - 8
7-140800430-C-A c.912G>T p.E304D Missense 7/18 - 1
7-140800430-C-T c.912G>A p.E304= Synonymous 7/18 - 1
7-140800431-T-C c.911A>G p.E304G Missense 7/18 - 3
7-140800432-C-A c.910G>T p.E304* Nonsense 7/18 - 2
7-140800432-C-G c.910G>C p.E304Q Missense 7/18 - 1
7-140800432-C-T c.910G>A p.E304K Missense 7/18 - 3
7-140800433-T-C c.909A>G p.E303= Synonymous 7/18 - 1
7-140800434-T-C c.908A>G p.E303G Missense 7/18 - 2
7-140800435-C-A c.907G>T p.E303* Nonsense 7/18 - 2
7-140800435-C-T c.907G>A p.E303K Missense 7/18 - 2
7-140800436-C-A c.906G>T p.Q302H Missense 7/18 - 1
7-140800436-C-G c.906G>C p.Q302H Missense 7/18 - 1
7-140800437-T-A c.905A>T p.Q302L Missense 7/18 - 1
7-140800437-T-C c.905A>G p.Q302R Missense 7/18 - 2
7-140800438-G-A c.904C>T p.Q302* Nonsense 7/18 - 3
7-140800438-G-C c.904C>G p.Q302E Missense 7/18 - 1
7-140800439-T-A c.903A>T p.P301= Synonymous 7/18 - 1
7-140800439-T-C c.903A>G p.P301= Synonymous 7/18 - 2
7-140800439-T-G c.903A>C p.P301= Synonymous 7/18 - 1
7-140800440-G-A c.902C>T p.P301L Missense 7/18 - 7
7-140800440-G-T c.902C>A p.P301Q Missense 7/18 - 1
7-140800439-TG-T c.902del p.P301Hfs*7 Frameshift 7/18 - 1
7-140800441-G-A c.901C>T p.P301S Missense 7/18 - 9
7-140800441-G-C c.901C>G p.P301A Missense 7/18 - 1
7-140800441-G-T c.901C>A p.P301T Missense 7/18 - 1
7-140800442-T-A c.900A>T p.I300= Synonymous 7/18 - 1
7-140800442-TA-GC c.899_900delinsGC p.I300S Missense 7/18 - 1
7-140800442-T-C c.900A>G p.I300M Missense 7/18 - 1
7-140800442-T-G c.900A>C p.I300= Synonymous 7/18 - 1
7-140800443-A-T c.899T>A p.I300K Missense 7/18 - 1
7-140800444-T-C c.898A>G p.I300V Missense 7/18 - 12
7-140800445-TG-AT c.896_897delinsAT p.P299H Missense 7/18 - 1
7-140800446-G-A c.896C>T p.P299L Missense 7/18 - 1
7-140800446-G-T c.896C>A p.P299Q Missense 7/18 - 1
7-140800447-G-T c.895C>A p.P299T Missense 7/18 - 2
7-140800448-G-A c.894C>T p.H298= Synonymous 7/18 - 2
7-140800449-T-A c.893A>T p.H298L Missense 7/18 - 1
7-140800449-T-G c.893A>C p.H298P Missense 7/18 - 1
7-140800450-G-A c.892C>T p.H298Y Missense 7/18 - 4
7-140800450-G-T c.892C>A p.H298N Missense 7/18 - 2
7-140800451-G-A c.891C>T p.H297= Synonymous 7/18 - 1
7-140800452-T-A c.890A>T p.H297L Missense 7/18 - 1
7-140800452-T-C c.890A>G p.H297R Missense 7/18 - 1
7-140800452-T-G c.890A>C p.H297P Missense 7/18 - 1
7-140800453-G-A c.889C>T p.H297Y Missense 7/18 - 4
7-140800454-T-A c.888A>T p.E296D Missense 7/18 - 1
7-140800454-T-G c.888A>C p.E296D Missense 7/18 - 1
7-140800455-T-C c.887A>G p.E296G Missense 7/18 - 2
7-140800456-C-A c.886G>T p.E296* Nonsense 7/18 - 2
7-140800456-C-T c.886G>A p.E296K Missense 7/18 - 6
7-140800458-A-C c.884T>G p.F295C Missense 7/18 - 1
7-140800457-A-C c.885T>G p.F295L Missense 7/18 - 1
7-140800457-A-T c.885T>A p.F295L Missense 7/18 - 1
7-140800459-A-G c.883T>C p.F295L Missense 7/18 - 2
7-140800460-G-A c.882C>T p.F294= Synonymous 7/18 - 2
7-140800461-A-C c.881T>G p.F294C Missense 7/18 - 1
7-140800461-A-G c.881T>C p.F294S Missense 7/18 - 1
7-140800460-G-C c.882C>G p.F294L Missense 7/18 - 9
7-140800460-G-T c.882C>A p.F294L Missense 7/18 - 15
7-140800462-A-G c.880T>C p.F294L Missense 7/18 - 9
7-140800463-C-A c.879G>T p.K293N Missense 7/18 - 3
7-140800463-C-G c.879G>C p.K293N Missense 7/18 - 1
7-140800464-T-A c.878A>T p.K293M Missense 7/18 - 1
7-140800466-G-A c.876C>T p.S292= Synonymous 7/18 - 1
7-140800466-G-C c.876C>G p.S292= Synonymous 7/18 - 1
7-140800466-GG-TT c.875_876delinsAA p.S292* Nonsense 7/18 - 1
7-140800466-G-T c.876C>A p.S292= Synonymous 7/18 - 2
7-140800467-G-A c.875C>T p.S292F Missense 7/18 - 1
7-140800467-G-C c.875C>G p.S292C Missense 7/18 - 1
7-140800467-G-T c.875C>A p.S292Y Missense 7/18 - 1
7-140800468-A-T c.874T>A p.S292T Missense 7/18 - 1
7-140800470-A-G c.872T>C p.V291A Missense 7/18 - 1
7-140800471-C-A c.871G>T p.V291F Missense 7/18 - 1
7-140800471-C-T c.871G>A p.V291I Missense 7/18 - 1
7-140800473-A-G c.869T>C p.F290S Missense 7/18 - 2
7-140800475-C-A c.867G>T p.L289= Synonymous 7/18 - 1
7-140800475-CAG-TT c.865_867delinsAA p.L289Nfs*19 Frameshift 7/18 - 1
7-140800476-AG-GC c.865_866delinsGC p.L289A Missense 7/18 - 1
7-140800477-G-A c.865C>T p.L289= Synonymous 7/18 - 1
7-140800477-G-T c.865C>A p.L289M Missense 7/18 - 1
7-140800478-C-A c.864G>T p.L288F Missense 7/18 - 1
7-140800479-A-C c.863T>G p.L288W Missense 7/18 - 1
7-140800479-A-G c.863T>C p.L288S Missense 7/18 - 1
7-140800478-C-T c.864G>A p.L288= Synonymous 7/18 - 2
7-140800480-A-G c.862T>C p.L288= Synonymous 7/18 - 1
7-140800480-A-T c.862T>A p.L288M Missense 7/18 - 2
7-140800651-T-A c.861-170A>T - IntronicSNV - 6/17 3
7-140800999-G-A c.860+413C>T - IntronicSNV - 6/17 1
7-140801331-C-T c.860+81G>A - IntronicSNV - 6/17 1
7-140801401-G-T c.860+11C>A - IntronicSNV - 6/17 1
7-140801402-G-A c.860+10C>T - IntronicSNV - 6/17 1
7-140801402-G-T c.860+10C>A - IntronicSNV - 6/17 2
7-140801411-C-A c.860+1G>T - IntronicSNV - 6/17 1
7-140801411-C-T c.860+1G>A - IntronicSNV - 6/17 2
7-140801412-T-A c.860A>T p.D287V Missense 6/18 - 2
7-140801412-T-G c.860A>C p.D287A Missense 6/18 - 1
7-140801413-C-A c.859G>T p.D287Y Missense 6/18 - 1
7-140801413-C-G c.859G>C p.D287H Missense 6/18 - 19
7-140801413-C-T c.859G>A p.D287N Missense 6/18 - 3
7-140801414-A-G c.858T>C p.L286= Synonymous 6/18 - 1
7-140801415-A-C c.857T>G p.L286R Missense 6/18 - 1
7-140801415-A-G c.857T>C p.L286P Missense 6/18 - 1
7-140801416-G-A c.856C>T p.L286F Missense 6/18 - 3
7-140801416-G-C c.856C>G p.L286V Missense 6/18 - 5
7-140801417-T-C c.855A>G p.Q285= Synonymous 6/18 - 1
7-140801417-T-G c.855A>C p.Q285H Missense 6/18 - 1
7-140801416-GT-G c.855del p.Q285Hfs*23 Frameshift 6/18 - 1
7-140801418-T-C c.854A>G p.Q285R Missense 6/18 - 2
7-140801419-G-A c.853C>T p.Q285* Nonsense 6/18 - 1
7-140801419-G-T c.853C>A p.Q285K Missense 6/18 - 1
7-140801420-G-A c.852C>T p.D284= Synonymous 6/18 - 1
7-140801420-G-C c.852C>G p.D284E Missense 6/18 - 1
7-140801420-G-T c.852C>A p.D284E Missense 6/18 - 1
7-140801421-T-C c.851A>G p.D284G Missense 6/18 - 1
7-140801422-C-A c.850G>T p.D284Y Missense 6/18 - 2
7-140801422-C-G c.850G>C p.D284H Missense 6/18 - 1
7-140801422-C-T c.850G>A p.D284N Missense 6/18 - 1
7-140801423-A-G c.849T>C p.Y283= Synonymous 6/18 - 2
7-140801423-A-T c.849T>A p.Y283* Nonsense 6/18 - 1
7-140801423-ATA-CTC c.847_849delinsGAG p.Y283E Missense 6/18 - 1
7-140801424-T-A c.848A>T p.Y283F Missense 6/18 - 1
7-140801424-T-C c.848A>G p.Y283C Missense 6/18 - 2
7-140801425-A-C c.847T>G p.Y283D Missense 6/18 - 1
7-140801425-A-T c.847T>A p.Y283N Missense 6/18 - 1
7-140801426-A-G c.846T>C p.N282= Synonymous 6/18 - 1
7-140801427-TT-GC c.844_845delinsGC p.N282A Missense 6/18 - 1
7-140801429-AA-CT c.842_843delinsAG p.V281E Missense 6/18 - 1
7-140801429-A-C c.843T>G p.V281= Synonymous 6/18 - 1
7-140801429-A-G c.843T>C p.V281= Synonymous 6/18 - 1
7-140801429-A-T c.843T>A p.V281= Synonymous 6/18 - 2
7-140801431-C-A c.841G>T p.V281F Missense 6/18 - 2
7-140801431-C-T c.841G>A p.V281I Missense 6/18 - 3
7-140801431-C-CA c.840dup p.V281Cfs*2 Frameshift 6/18 - 1
7-140801433-C-A c.839G>T p.C280F Missense 6/18 - 1
7-140801433-C-G c.839G>C p.C280S Missense 6/18 - 2
7-140801433-C-T c.839G>A p.C280Y Missense 6/18 - 1
7-140801434-A-T c.838T>A p.C280S Missense 6/18 - 1
7-140801435-C-A c.837G>T p.M279I Missense 6/18 - 4
7-140801435-C-G c.837G>C p.M279I Missense 6/18 - 3
7-140801435-C-T c.837G>A p.M279I Missense 6/18 - 4
7-140801436-A-C c.836T>G p.M279R Missense 6/18 - 1
7-140801436-AT-GC c.835_836delinsGC p.M279A Missense 6/18 - 1
7-140801437-T-A c.835A>T p.M279L Missense 6/18 - 1
7-140801437-T-G c.835A>C p.M279L Missense 6/18 - 1
7-140801438-C-A c.834G>T p.L278= Synonymous 6/18 - 1
7-140801438-C-T c.834G>A p.L278= Synonymous 6/18 - 1
7-140801439-A-C c.833T>G p.L278R Missense 6/18 - 1
7-140801439-A-T c.833T>A p.L278Q Missense 6/18 - 1
7-140801440-G-C c.832C>G p.L278V Missense 6/18 - 1
7-140801441-T-G c.831A>C p.P277= Synonymous 6/18 - 1
7-140801442-G-T c.830C>A p.P277Q Missense 6/18 - 1
7-140801441-TG-T c.830del p.P277Hfs*2 Frameshift 6/18 - 1
7-140801441-T-TG c.830dup p.L278Tfs*5 Frameshift 6/18 - 1
7-140801443-G-A c.829C>T p.P277S Missense 6/18 - 1
7-140801443-G-C c.829C>G p.P277A Missense 6/18 - 4
7-140801443-G-T c.829C>A p.P277T Missense 6/18 - 1
7-140801445-A-T c.827T>A p.V276D Missense 6/18 - 1
7-140801446-C-A c.826G>T p.V276F Missense 6/18 - 2
7-140801446-C-G c.826G>C p.V276L Missense 6/18 - 1
7-140801446-C-T c.826G>A p.V276I Missense 6/18 - 1
7-140801447-T-A c.825A>T p.E275D Missense 6/18 - 1
7-140801447-T-C c.825A>G p.E275= Synonymous 6/18 - 2
7-140801447-T-G c.825A>C p.E275D Missense 6/18 - 1
7-140801448-T-C c.824A>G p.E275G Missense 6/18 - 2
7-140801449-C-A c.823G>T p.E275* Nonsense 6/18 - 2
7-140801449-C-G c.823G>C p.E275Q Missense 6/18 - 1
7-140801449-C-T c.823G>A p.E275K Missense 6/18 - 17
7-140801450-T-A c.822A>T p.T274= Synonymous 6/18 - 1
7-140801450-T-C c.822A>G p.T274= Synonymous 6/18 - 1
7-140801450-T-G c.822A>C p.T274= Synonymous 6/18 - 1
7-140801451-G-T c.821C>A p.T274K Missense 6/18 - 2
7-140801452-T-A c.820A>T p.T274S Missense 6/18 - 1
7-140801452-T-C c.820A>G p.T274A Missense 6/18 - 3
7-140801453-A-G c.819T>C p.S273= Synonymous 6/18 - 1
7-140801454-C-A c.818G>T p.S273I Missense 6/18 - 3
7-140801454-C-T c.818G>A p.S273N Missense 6/18 - 11
7-140801455-T-C c.817A>G p.S273G Missense 6/18 - 2
7-140801455-T-G c.817A>C p.S273R Missense 6/18 - 1
7-140801456-A-G c.816T>C p.C272= Synonymous 6/18 - 3
7-140801457-C-A c.815G>T p.C272F Missense 6/18 - 3
7-140801457-CA-GT c.814_815delinsAC p.C272T Missense 6/18 - 1
7-140801458-A-C c.814T>G p.C272G Missense 6/18 - 2
7-140801458-A-G c.814T>C p.C272R Missense 6/18 - 1
7-140801459-ACG-CCA c.811_813delinsTGG p.R271W Missense 6/18 - 3
7-140801459-ACG-CTT c.811_813delinsAAG p.R271K Missense 6/18 - 1
7-140801459-ACG-TCA c.811_813delinsTGA p.R271* Nonsense 6/18 - 3
7-140801460-C-A c.812G>T p.R271L Missense 6/18 - 1
7-140801460-CG-AA c.811_812delinsTT p.R271F Missense 6/18 - 1
7-140801460-CG-AT c.811_812delinsAT p.R271I Missense 6/18 - 1
7-140801460-C-T c.812G>A p.R271H Missense 6/18 - 11
7-140801460-C-CG c.811dup p.R271Pfs*3 Frameshift 6/18 - 1
7-140801461-G-A c.811C>T p.R271C Missense 6/18 - 5
7-140801461-G-T c.811C>A p.R271S Missense 6/18 - 1
7-140801462-C-A c.810G>T p.Q270H Missense 6/18 - 1
7-140801462-C-T c.810G>A p.Q270= Synonymous 6/18 - 2
7-140801463-T-A c.809A>T p.Q270L Missense 6/18 - 1
7-140801464-G-A c.808C>T p.Q270* Nonsense 6/18 - 2
7-140801464-G-T c.808C>A p.Q270K Missense 6/18 - 1
7-140801463-T-TG c.808dup p.Q270Pfs*4 Frameshift 6/18 - 1
7-140801465-G-A c.807C>T p.H269= Synonymous 6/18 - 1
7-140801466-T-G c.806A>C p.H269P Missense 6/18 - 1
7-140801467-G-A c.805C>T p.H269Y Missense 6/18 - 5
7-140801469-A-G c.803T>C p.F268S Missense 6/18 - 1
7-140801472-TT-GC c.799_800delinsGC p.K267A Missense 6/18 - 1
7-140801470-AT-A c.801del p.K267Nfs*12 Frameshift 6/18 - 1
7-140801473-T-C c.799A>G p.K267E Missense 6/18 - 3
7-140801476-A-C c.796T>G p.Y266D Missense 6/18 - 1
7-140801476-A-T c.796T>A p.Y266N Missense 6/18 - 1
7-140801478-C-A c.794G>T p.G265V Missense 6/18 - 1
7-140801478-C-G c.794G>C p.G265A Missense 6/18 - 1
7-140801478-C-T c.794G>A p.G265D Missense 6/18 - 3
7-140801479-C-A c.793G>T p.G265C Missense 6/18 - 1
7-140801479-C-G c.793G>C p.G265R Missense 6/18 - 5
7-140801479-C-T c.793G>A p.G265S Missense 6/18 - 1
7-140801481-C-A c.791G>T p.C264F Missense 6/18 - 2
7-140801481-C-T c.791G>A p.C264Y Missense 6/18 - 2
7-140801482-A-G c.790T>C p.C264R Missense 6/18 - 2
7-140801482-A-AT c.789dup p.C264Mfs*4 Frameshift 6/18 - 1
7-140801483-TG-CA c.788_789inv p.T263M Missense 6/18 - 1
7-140801484-G-A c.788C>T p.T263I Missense 6/18 - 1
7-140801484-G-C c.788C>G p.T263R Missense 6/18 - 1
7-140801484-G-T c.788C>A p.T263K Missense 6/18 - 1
7-140801485-T-G c.787A>C p.T263P Missense 6/18 - 2
7-140801486-T-A c.786A>T p.Q262H Missense 6/18 - 1
7-140801486-T-G c.786A>C p.Q262H Missense 6/18 - 1
7-140801487-T-C c.785A>G p.Q262R Missense 6/18 - 16
7-140801487-T-G c.785A>C p.Q262P Missense 6/18 - 4
7-140801487-TG-GC c.784_785delinsGC p.Q262A Missense 6/18 - 1
7-140801488-G-A c.784C>T p.Q262* Nonsense 6/18 - 1
7-140801488-G-C c.784C>G p.Q262E Missense 6/18 - 6
7-140801488-G-T c.784C>A p.Q262K Missense 6/18 - 11
7-140801489-A-G c.783T>C p.C261= Synonymous 6/18 - 2
7-140801490-C-A c.782G>T p.C261F Missense 6/18 - 1
7-140801490-C-T c.782G>A p.C261Y Missense 6/18 - 2
7-140801491-A-G c.781T>C p.C261R Missense 6/18 - 1
7-140801492-G-A c.780C>T p.R260= Synonymous 6/18 - 3
7-140801492-GCG-CAT c.778_780delinsATG p.R260M Missense 6/18 - 1
7-140801492-GCG-TCA c.778_780delinsTGA p.R260* Nonsense 6/18 - 2
7-140801492-G-T c.780C>A p.R260= Synonymous 6/18 - 1
7-140801493-C-A c.779G>T p.R260L Missense 6/18 - 1
7-140801493-C-T c.779G>A p.R260H Missense 6/18 - 4
7-140801494-G-A c.778C>T p.R260C Missense 6/18 - 9
7-140801495-G-A c.777C>T p.F259= Synonymous 6/18 - 1
7-140801495-G-C c.777C>G p.F259L Missense 6/18 - 7
7-140801496-A-G c.776T>C p.F259S Missense 6/18 - 3
7-140801496-A-T c.776T>A p.F259Y Missense 6/18 - 1
7-140801495-G-T c.777C>A p.F259L Missense 6/18 - 6
7-140801497-A-G c.775T>C p.F259L Missense 6/18 - 6
7-140801499-C-A c.773G>T p.G258V Missense 6/18 - 13
7-140801500-C-A c.772G>T p.G258C Missense 6/18 - 3
7-140801501-C-A c.771G>T p.Q257H Missense 6/18 - 3
7-140801501-C-G c.771G>C p.Q257H Missense 6/18 - 2
7-140801502-T-C c.770A>G p.Q257R Missense 6/18 - 87
7-140801503-G-A c.769C>T p.Q257* Nonsense 6/18 - 2
7-140801503-G-T c.769C>A p.Q257K Missense 6/18 - 10
7-140801505-A-AC c.766_767insG p.F256Cfs*12 Frameshift 6/18 - 1
7-140801505-A-C c.767T>G p.F256C Missense 6/18 - 1
7-140801504-G-C c.768C>G p.F256L Missense 6/18 - 1
7-140801504-G-T c.768C>A p.F256L Missense 6/18 - 1
7-140801506-A-G c.766T>C p.F256L Missense 6/18 - 1
7-140801507-A-C c.765T>G p.L255= Synonymous 6/18 - 1
7-140801507-A-G c.765T>C p.L255= Synonymous 6/18 - 2
7-140801507-A-T c.765T>A p.L255= Synonymous 6/18 - 1
7-140801508-A-C c.764T>G p.L255R Missense 6/18 - 1
7-140801509-G-A c.763C>T p.L255F Missense 6/18 - 2
7-140801509-G-T c.763C>A p.L255I Missense 6/18 - 3
7-140801510-C-A c.762G>T p.L254= Synonymous 6/18 - 1
7-140801510-C-T c.762G>A p.L254= Synonymous 6/18 - 1
7-140801511-A-T c.761T>A p.L254Q Missense 6/18 - 1
7-140801512-G-A c.760C>T p.L254= Synonymous 6/18 - 1
7-140801513-C-A c.759G>T p.K253N Missense 6/18 - 2
7-140801514-T-C c.758A>G p.K253R Missense 6/18 - 1
7-140801515-T-A c.757A>T p.K253* Nonsense 6/18 - 1
7-140801515-T-C c.757A>G p.K253E Missense 6/18 - 2
7-140801516-TC-AT c.755_756delinsAT p.R252H Missense 6/18 - 1
7-140801516-TCG-CCA c.754_756delinsTGG p.R252W Missense 6/18 - 1
7-140801517-C-A c.755G>T p.R252L Missense 6/18 - 2
7-140801517-C-G c.755G>C p.R252P Missense 6/18 - 5
7-140801517-C-T c.755G>A p.R252Q Missense 6/18 - 6
7-140801516-T-A c.756A>T p.R252= Synonymous 6/18 - 1
7-140801516-T-C c.756A>G p.R252= Synonymous 6/18 - 1
7-140801516-T-G c.756A>C p.R252= Synonymous 6/18 - 1
7-140801518-G-A c.754C>T p.R252* Nonsense 6/18 - 2
7-140801518-G-T c.754C>A p.R252= Synonymous 6/18 - 1
7-140801519-A-G c.753T>C p.C251= Synonymous 6/18 - 2
7-140801520-C-A c.752G>T p.C251F Missense 6/18 - 1
7-140801520-CA-GT c.751_752delinsAC p.C251T Missense 6/18 - 1
7-140801520-C-G c.752G>C p.C251S Missense 6/18 - 1
7-140801520-C-T c.752G>A p.C251Y Missense 6/18 - 2
7-140801521-A-C c.751T>G p.C251G Missense 6/18 - 1
7-140801521-A-G c.751T>C p.C251R Missense 6/18 - 1
7-140801521-A-T c.751T>A p.C251S Missense 6/18 - 1
7-140801523-A-T c.749T>A p.F250Y Missense 6/18 - 1
7-140801525-G-C c.747C>G p.D249E Missense 6/18 - 1
7-140801525-G-T c.747C>A p.D249E Missense 6/18 - 3
7-140801526-T-C c.746A>G p.D249G Missense 6/18 - 1
7-140801526-T-G c.746A>C p.D249A Missense 6/18 - 1
7-140801527-C-A c.745G>T p.D249Y Missense 6/18 - 2
7-140801529-C-A c.743G>T p.C248F Missense 6/18 - 1
7-140801529-C-T c.743G>A p.C248Y Missense 6/18 - 2
7-140801530-A-C c.742T>G p.C248G Missense 6/18 - 1
7-140801530-A-G c.742T>C p.C248R Missense 6/18 - 2
7-140801531-AAA-CTT c.739_741delinsAAG p.F247K Missense 6/18 - 1
7-140801532-A-C c.740T>G p.F247C Missense 6/18 - 5
7-140801532-A-G c.740T>C p.F247S Missense 6/18 - 3
7-140801531-A-C c.741T>G p.F247L Missense 6/18 - 22
7-140801531-A-T c.741T>A p.F247L Missense 6/18 - 12
7-140801533-A-C c.739T>G p.F247V Missense 6/18 - 5
7-140801533-A-G c.739T>C p.F247L Missense 6/18 - 16
7-140801535-G-A c.737C>T p.A246V Missense 6/18 - 1
7-140801535-G-C c.737C>G p.A246G Missense 6/18 - 1
7-140801536-C-A c.736G>T p.A246S Missense 6/18 - 1
7-140801536-C-G c.736G>C p.A246P Missense 6/18 - 30
7-140801536-C-T c.736G>A p.A246T Missense 6/18 - 2
7-140801537-T-A c.735A>T p.L245F Missense 6/18 - 27
7-140801537-T-C c.735A>G p.L245= Synonymous 6/18 - 2
7-140801537-T-G c.735A>C p.L245F Missense 6/18 - 30
7-140801538-A-T c.734T>A p.L245* Nonsense 6/18 - 1
7-140801539-A-C c.733T>G p.L245V Missense 6/18 - 1
7-140801539-A-G c.733T>C p.L245= Synonymous 6/18 - 1
7-140801540-G-A c.732C>T p.T244= Synonymous 6/18 - 1
7-140801540-G-C c.732C>G p.T244= Synonymous 6/18 - 1
7-140801540-G-T c.732C>A p.T244= Synonymous 6/18 - 1
7-140801541-G-A c.731C>T p.T244I Missense 6/18 - 6
7-140801541-G-T c.731C>A p.T244N Missense 6/18 - 1
7-140801542-T-C c.730A>G p.T244A Missense 6/18 - 1
7-140801542-T-G c.730A>C p.T244P Missense 6/18 - 11
7-140801543-TG-T c.729del p.F243Lfs*3 Frameshift 6/18 - 1
7-140801544-A-G c.728T>C p.F243S Missense 6/18 - 1
7-140801549-C-A c.723G>T p.T241= Synonymous 6/18 - 3
7-140801549-C-G c.723G>C p.T241= Synonymous 6/18 - 1
7-140801549-C-T c.723G>A p.T241= Synonymous 6/18 - 4
7-140801550-G-A c.722C>T p.T241M Missense 6/18 - 36
7-140801550-G-C c.722C>G p.T241R Missense 6/18 - 12
7-140801550-G-T c.722C>A p.T241K Missense 6/18 - 3
7-140801551-T-C c.721A>G p.T241A Missense 6/18 - 1
7-140801551-T-G c.721A>C p.T241P Missense 6/18 - 26
7-140801552-T-C c.720A>G p.K240= Synonymous 6/18 - 1
7-140801553-T-C c.719A>G p.K240R Missense 6/18 - 1
7-140801550-GT-G c.721del p.T241Rfs*5 Frameshift 6/18 - 1
7-140801555-TCG-ACA c.715_717delinsTGT p.R239C Missense 6/18 - 1
7-140801555-TCG-CCA c.715_717delinsTGG p.R239W Missense 6/18 - 1
7-140801556-C-A c.716G>T p.R239L Missense 6/18 - 2
7-140801556-CG-TT c.715_716delinsAA p.R239K Missense 6/18 - 1
7-140801556-C-T c.716G>A p.R239Q Missense 6/18 - 9
7-140801555-T-C c.717A>G p.R239= Synonymous 6/18 - 1
7-140801557-G-A c.715C>T p.R239* Nonsense 6/18 - 9
7-140801557-G-C c.715C>G p.R239G Missense 6/18 - 1
7-140801558-T-A c.714A>T p.V238= Synonymous 6/18 - 1
7-140801559-A-G c.713T>C p.V238A Missense 6/18 - 1
7-140801560-C-A c.712G>T p.V238L Missense 6/18 - 1
7-140801560-C-G c.712G>C p.V238L Missense 6/18 - 1
7-140801560-C-T c.712G>A p.V238I Missense 6/18 - 5
7-140801621-C-T c.712-61G>A - IntronicSNV - 5/17 1
7-140802136-G-A c.712-576C>T - IntronicSNV - 5/17 1
7-140802522-T-A c.712-962A>T - IntronicSNV - 5/17 1
7-140802832-G-A c.712-1272C>T - IntronicSNV - 5/17 1
7-140803051-T-C c.712-1491A>G - IntronicSNV - 5/17 1
7-140803681-T-C c.712-2121A>G - IntronicSNV - 5/17 1
7-140804406-T-C c.712-2846A>G - IntronicSNV - 5/17 2
7-140804406-T-G c.712-2846A>C - IntronicSNV - 5/17 2
7-140804406-T-TGGG c.712-2849_712-2847dup - IntronicInsertion - 5/17 1
7-140804406-T-TGG c.712-2848_712-2847dup - IntronicInsertion - 5/17 1
7-140804406-T-TG c.712-2847dup - IntronicInsertion - 5/17 1
7-140804415-T-A c.712-2855A>T - IntronicSNV - 5/17 1
7-140804415-T-G c.712-2855A>C - IntronicSNV - 5/17 1
7-140804769-C-T c.711+3191G>A - IntronicSNV - 5/17 1
7-140804798-A-T c.711+3162T>A - IntronicSNV - 5/17 1
7-140805224-GT-G c.711+2735del - IntronicDeletion - 5/17 1
7-140805271-C-T c.711+2689G>A - IntronicSNV - 5/17 1
7-140805300-T-C c.711+2660A>G - IntronicSNV - 5/17 1
7-140805389-C-T c.711+2571G>A - IntronicSNV - 5/17 1
7-140805545-A-G c.711+2415T>C - IntronicSNV - 5/17 1
7-140805547-C-T c.711+2413G>A - IntronicSNV - 5/17 2
7-140805808-C-T c.711+2152G>A - IntronicSNV - 5/17 1
7-140806053-C-G c.711+1907G>C - IntronicSNV - 5/17 3
7-140806208-C-G c.711+1752G>C - IntronicSNV - 5/17 1
7-140806237-G-C c.711+1723C>G - IntronicSNV - 5/17 1
7-140806237-G-T c.711+1723C>A - IntronicSNV - 5/17 1
7-140806604-T-A c.711+1356A>T - IntronicSNV - 5/17 1
7-140806952-G-A c.711+1008C>T - IntronicSNV - 5/17 1
7-140807183-CCAGA-C c.711+773_711+776del - IntronicDeletion - 5/17 1
7-140807472-T-TA c.711+487dup - IntronicInsertion - 5/17 2
7-140807935-CA-C c.711+24del - IntronicDeletion - 5/17 2
7-140807935-C-CA c.711+24dup - IntronicInsertion - 5/17 1
7-140807945-T-A c.711+15A>T - IntronicSNV - 5/17 1
7-140807949-A-T c.711+11T>A - IntronicSNV - 5/17 1
7-140807959-AC-A c.711+1del - IntronicDeletion - 5/17 1
7-140807959-C-A c.711+1G>T - IntronicSNV - 5/17 2
7-140807959-C-G c.711+1G>C - IntronicSNV - 5/17 1
7-140807960-A-G c.711T>C p.F237= Synonymous 5/18 - 1
7-140807962-A-C c.709T>G p.F237V Missense 5/18 - 1
7-140807962-A-G c.709T>C p.F237L Missense 5/18 - 1
7-140807963-G-A c.708C>T p.N236= Synonymous 5/18 - 1
7-140807963-G-C c.708C>G p.N236K Missense 5/18 - 1
7-140807963-G-T c.708C>A p.N236K Missense 5/18 - 1
7-140807964-T-C c.707A>G p.N236S Missense 5/18 - 3
7-140807963-GT-G c.707del p.N236Tfs*10 Frameshift 5/18 - 1
7-140807965-T-A c.706A>T p.N236Y Missense 5/18 - 2
7-140807966-G-A c.705C>T p.H235= Synonymous 5/18 - 1
7-140807967-T-C c.704A>G p.H235R Missense 5/18 - 1
7-140807968-G-A c.703C>T p.H235Y Missense 5/18 - 6
7-140807968-G-T c.703C>A p.H235N Missense 5/18 - 1
7-140807968-G-GT c.702dup p.H235Tfs*15 Frameshift 5/18 - 1
7-140807969-T-A c.702A>T p.T234= Synonymous 5/18 - 3
7-140807969-T-C c.702A>G p.T234= Synonymous 5/18 - 2
7-140807969-T-G c.702A>C p.T234= Synonymous 5/18 - 2
7-140807969-TGT-ACA c.700_702inv p.T234C Missense 5/18 - 1
7-140807970-G-A c.701C>T p.T234I Missense 5/18 - 1
7-140807970-G-C c.701C>G p.T234R Missense 5/18 - 1
7-140807970-G-T c.701C>A p.T234K Missense 5/18 - 1
7-140807971-T-G c.700A>C p.T234P Missense 5/18 - 1
7-140807972-T-A c.699A>T p.T233= Synonymous 5/18 - 1
7-140807972-T-C c.699A>G p.T233= Synonymous 5/18 - 1
7-140807972-T-G c.699A>C p.T233= Synonymous 5/18 - 1
7-140807973-G-A c.698C>T p.T233I Missense 5/18 - 4
7-140807973-G-GT c.697dup p.T233Nfs*17 Frameshift 5/18 - 2
7-140807974-T-G c.697A>C p.T233P Missense 5/18 - 1
7-140807975-A-C c.696T>G p.L232= Synonymous 5/18 - 1
7-140807975-A-G c.696T>C p.L232= Synonymous 5/18 - 1
7-140807975-A-T c.696T>A p.L232= Synonymous 5/18 - 2
7-140807976-A-C c.695T>G p.L232R Missense 5/18 - 2
7-140807976-A-T c.695T>A p.L232H Missense 5/18 - 1
7-140807978-TGG-AAA c.691_693delinsTTT p.P231F Missense 5/18 - 1
7-140807979-G-A c.692C>T p.P231L Missense 5/18 - 1
7-140807979-G-C c.692C>G p.P231R Missense 5/18 - 1
7-140807979-G-T c.692C>A p.P231Q Missense 5/18 - 1
7-140807980-G-A c.691C>T p.P231S Missense 5/18 - 2
7-140807980-G-T c.691C>A p.P231T Missense 5/18 - 2
7-140807982-A-T c.689T>A p.V230D Missense 5/18 - 1
7-140807983-C-A c.688G>T p.V230F Missense 5/18 - 1
7-140807983-C-T c.688G>A p.V230I Missense 5/18 - 1
7-140807987-C-A c.684G>T p.E228D Missense 5/18 - 1
7-140807987-C-G c.684G>C p.E228D Missense 5/18 - 1
7-140807988-T-A c.683A>T p.E228V Missense 5/18 - 3
7-140807988-T-C c.683A>G p.E228G Missense 5/18 - 1
7-140807989-C-A c.682G>T p.E228* Nonsense 5/18 - 1
7-140807990-C-A c.681G>T p.L227F Missense 5/18 - 1
7-140807990-CAA-ATG c.679_681delinsCAT p.L227H Missense 5/18 - 1
7-140807991-A-G c.680T>C p.L227S Missense 5/18 - 1
7-140807991-A-T c.680T>A p.L227* Nonsense 5/18 - 1
7-140807993-C-A c.678G>T p.V226= Synonymous 5/18 - 4
7-140807993-CAC-GAT c.676_678delinsATC p.V226I Missense 5/18 - 1
7-140807993-C-G c.678G>C p.V226= Synonymous 5/18 - 3
7-140807993-C-T c.678G>A p.V226= Synonymous 5/18 - 4
7-140807995-C-A c.676G>T p.V226L Missense 5/18 - 2
7-140807995-C-G c.676G>C p.V226L Missense 5/18 - 1
7-140807995-C-T c.676G>A p.V226M Missense 5/18 - 6
7-140807996-T-A c.675A>T p.E225D Missense 5/18 - 1
7-140807996-T-G c.675A>C p.E225D Missense 5/18 - 1
7-140807998-C-A c.673G>T p.E225* Nonsense 5/18 - 1
7-140807998-C-T c.673G>A p.E225K Missense 5/18 - 2
7-140807999-C-A c.672G>T p.V224= Synonymous 5/18 - 1
7-140807999-C-T c.672G>A p.V224= Synonymous 5/18 - 1
7-140808000-A-C c.671T>G p.V224G Missense 5/18 - 1
7-140808000-A-G c.671T>C p.V224A Missense 5/18 - 1
7-140808001-C-A c.670G>T p.V224L Missense 5/18 - 3
7-140808001-C-G c.670G>C p.V224L Missense 5/18 - 1
7-140808001-C-T c.670G>A p.V224M Missense 5/18 - 1
7-140808003-T-C c.668A>G p.H223R Missense 5/18 - 1
7-140808003-T-G c.668A>C p.H223P Missense 5/18 - 1
7-140808004-G-A c.667C>T p.H223Y Missense 5/18 - 1
7-140808005-C-A c.666G>T p.L222F Missense 5/18 - 3
7-140808008-T-C c.663A>G p.E221= Synonymous 5/18 - 2
7-140808010-C-A c.661G>T p.E221* Nonsense 5/18 - 2
7-140808010-C-G c.661G>C p.E221Q Missense 5/18 - 2
7-140808010-C-T c.661G>A p.E221K Missense 5/18 - 1
7-140808011-T-C c.660A>G p.E220= Synonymous 5/18 - 2
7-140808012-T-C c.659A>G p.E220G Missense 5/18 - 1
7-140808013-C-A c.658G>T p.E220* Nonsense 5/18 - 1
7-140808013-C-T c.658G>A p.E220K Missense 5/18 - 4
7-140808014-CT-C c.657del p.E220Kfs*26 Frameshift 5/18 - 1
7-140808015-C-A c.656G>T p.G219V Missense 5/18 - 1
7-140808015-C-G c.656G>C p.G219A Missense 5/18 - 3
7-140808016-C-A c.655G>T p.G219* Nonsense 5/18 - 1
7-140808016-C-G c.655G>C p.G219R Missense 5/18 - 1
7-140808016-C-T c.655G>A p.G219R Missense 5/18 - 3
7-140808018-G-C c.653C>G p.T218S Missense 5/18 - 1
7-140808019-T-A c.652A>T p.T218S Missense 5/18 - 1
7-140808019-T-C c.652A>G p.T218A Missense 5/18 - 1
7-140808020-A-C c.651T>G p.L217= Synonymous 5/18 - 2
7-140808020-A-G c.651T>C p.L217= Synonymous 5/18 - 2
7-140808020-A-T c.651T>A p.L217= Synonymous 5/18 - 2
7-140808023-C-A c.648G>T p.W216C Missense 5/18 - 1
7-140808023-C-T c.648G>A p.W216* Nonsense 5/18 - 3
7-140808024-C-A c.647G>T p.W216L Missense 5/18 - 1
7-140808024-C-G c.647G>C p.W216S Missense 5/18 - 1
7-140808024-C-T c.647G>A p.W216* Nonsense 5/18 - 2
7-140808025-A-G c.646T>C p.W216R Missense 5/18 - 3
7-140808025-A-T c.646T>A p.W216R Missense 5/18 - 3
7-140808027-G-A c.644C>T p.S215F Missense 5/18 - 4
7-140808027-GA-AG c.643_644delinsCT p.S215L Missense 5/18 - 1
7-140808027-GA-AT c.643_644delinsAT p.S215I Missense 5/18 - 2
7-140808027-GA-CG c.643_644delinsCG p.S215R Missense 5/18 - 3
7-140808027-GA-TT c.643_644delinsAA p.S215N Missense 5/18 - 1
7-140808027-G-T c.644C>A p.S215Y Missense 5/18 - 1
7-140808028-A-C c.643T>G p.S215A Missense 5/18 - 2
7-140808029-AATATCAGTGTCCCAACCAATTGGT-C c.618_642delinsG p.P207_I214del InFrameDeletion 5/18 - 1
7-140808029-A-C c.642T>G p.I214M Missense 5/18 - 1
7-140808032-A-AT c.638dup p.D213Efs*37 Frameshift 5/18 - 1
7-140808034-C-A c.637G>T p.D213Y Missense 5/18 - 1
7-140808034-C-T c.637G>A p.D213N Missense 5/18 - 5
7-140808035-A-G c.636T>C p.T212= Synonymous 5/18 - 1
7-140808035-A-T c.636T>A p.T212= Synonymous 5/18 - 1
7-140808036-G-A c.635C>T p.T212I Missense 5/18 - 1
7-140808037-T-C c.634A>G p.T212A Missense 5/18 - 2
7-140808038-G-A c.633C>T p.D211= Synonymous 5/18 - 1
7-140808039-T-C c.632A>G p.D211G Missense 5/18 - 13
7-140808040-C-A c.631G>T p.D211Y Missense 5/18 - 3
7-140808040-C-G c.631G>C p.D211H Missense 5/18 - 2
7-140808040-C-T c.631G>A p.D211N Missense 5/18 - 1
7-140808041-C-A c.630G>T p.W210C Missense 5/18 - 2
7-140808041-C-T c.630G>A p.W210* Nonsense 5/18 - 2
7-140808042-C-A c.629G>T p.W210L Missense 5/18 - 4
7-140808042-C-T c.629G>A p.W210* Nonsense 5/18 - 3
7-140808044-ACC-CAT c.625_627delinsATG p.G209M Missense 5/18 - 1
7-140808045-C-A c.626G>T p.G209V Missense 5/18 - 4
7-140808045-CC-GT c.625_626delinsAC p.G209T Missense 5/18 - 1
7-140808045-C-G c.626G>C p.G209A Missense 5/18 - 1
7-140808045-C-T c.626G>A p.G209D Missense 5/18 - 3
7-140808046-C-A c.625G>T p.G209C Missense 5/18 - 1
7-140808046-C-T c.625G>A p.G209S Missense 5/18 - 1
7-140808047-A-C c.624T>G p.I208M Missense 5/18 - 1
7-140808049-T-C c.622A>G p.I208V Missense 5/18 - 10
7-140808051-G-A c.620C>T p.P207L Missense 5/18 - 4
7-140808052-G-A c.619C>T p.P207S Missense 5/18 - 5
7-140808052-G-C c.619C>G p.P207A Missense 5/18 - 1
7-140808052-G-T c.619C>A p.P207T Missense 5/18 - 2
7-140808053-T-A c.618A>T p.K206N Missense 5/18 - 1
7-140808053-T-G c.618A>C p.K206N Missense 5/18 - 2
7-140808054-T-C c.617A>G p.K206R Missense 5/18 - 1
7-140808054-TT-GC c.616_617delinsGC p.K206A Missense 5/18 - 1
7-140808055-T-G c.616A>C p.K206Q Missense 5/18 - 1
7-140808056-C-A c.615G>T p.K205N Missense 5/18 - 4
7-140808056-C-G c.615G>C p.K205N Missense 5/18 - 2
7-140808056-C-T c.615G>A p.K205= Synonymous 5/18 - 1
7-140808057-T-A c.614A>T p.K205M Missense 5/18 - 1
7-140808058-T-G c.613A>C p.K205Q Missense 5/18 - 9
7-140808059-C-A c.612G>T p.E204D Missense 5/18 - 3
7-140808059-C-G c.612G>C p.E204D Missense 5/18 - 2
7-140808059-C-T c.612G>A p.E204= Synonymous 5/18 - 1
7-140808060-CTCT-C c.609_611del p.E204del SpliceAcceptorDeletion 5/18 - 1
7-140808060-T-A c.611A>T p.E204V Missense 5/18 - 4
7-140808060-TC-AG c.610_611delinsCT p.E204L Missense 5/18 - 1
7-140808061-C-A c.610G>T p.E204* Nonsense 5/18 - 11
7-140808061-C-G c.610G>C p.E204Q Missense 5/18 - 3
7-140808061-C-T c.610G>A p.E204K Missense 5/18 - 1
7-140808062-T-C c.609A>G p.G203= Synonymous 5/18 - 1
7-140808137-A-T c.609-75T>A - IntronicSNV - 4/17 7
7-140808381-C-A c.609-319G>T - IntronicSNV - 4/17 1
7-140808467-A-C c.609-405T>G - IntronicSNV - 4/17 2
7-140808467-A-T c.609-405T>A - IntronicSNV - 4/17 2
7-140808887-C-A c.608+5G>T - IntronicSNV - 4/17 1
7-140808891-C-A c.608+1G>T - IntronicSNV - 4/17 2
7-140808891-C-T c.608+1G>A - IntronicSNV - 4/17 1
7-140808892-C-A c.608G>T p.G203V Missense 4/18 - 1
7-140808892-C-G c.608G>C p.G203A Missense 4/18 - 1
7-140808892-C-T c.608G>A p.G203E Missense 4/18 - 3
7-140808893-C-A c.607G>T p.G203* Nonsense 4/18 - 5
7-140808893-C-G c.607G>C p.G203R Missense 4/18 - 2
7-140808893-C-T c.607G>A p.G203R Missense 4/18 - 5
7-140808894-A-C c.606T>G p.D202E Missense 4/18 - 1
7-140808894-A-G c.606T>C p.D202= Synonymous 4/18 - 1
7-140808894-A-T c.606T>A p.D202E Missense 4/18 - 1
7-140808895-T-C c.605A>G p.D202G Missense 4/18 - 5
7-140808896-C-A c.604G>T p.D202Y Missense 4/18 - 1
7-140808896-C-G c.604G>C p.D202H Missense 4/18 - 2
7-140808896-C-T c.604G>A p.D202N Missense 4/18 - 5
7-140808897-C-A c.603G>T p.Q201H Missense 4/18 - 6
7-140808897-C-G c.603G>C p.Q201H Missense 4/18 - 3
7-140808897-C-T c.603G>A p.Q201= Synonymous 4/18 - 3
7-140808898-T-A c.602A>T p.Q201L Missense 4/18 - 1
7-140808898-T-C c.602A>G p.Q201R Missense 4/18 - 3
7-140808898-T-G c.602A>C p.Q201P Missense 4/18 - 1
7-140808899-G-A c.601C>T p.Q201* Nonsense 4/18 - 4
7-140808899-G-T c.601C>A p.Q201K Missense 4/18 - 2
7-140808900-A-C c.600T>G p.I200M Missense 4/18 - 2
7-140808900-A-G c.600T>C p.I200= Synonymous 4/18 - 1
7-140808900-A-T c.600T>A p.I200= Synonymous 4/18 - 1
7-140808901-A-G c.599T>C p.I200T Missense 4/18 - 3
7-140808902-T-C c.598A>G p.I200V Missense 4/18 - 1
7-140808903-T-C c.597A>G p.R199= Synonymous 4/18 - 1
7-140808903-TCT-ATG c.595_597delinsCAT p.R199H Missense 4/18 - 2
7-140808903-TCT-CCA c.595_597delinsTGG p.R199W Missense 4/18 - 1
7-140808905-T-G c.595A>C p.R199= Synonymous 4/18 - 1
7-140808904-C-A c.596G>T p.R199I Missense 4/18 - 2
7-140808904-C-T c.596G>A p.R199K Missense 4/18 - 3
7-140808904-CT-TG c.595_596delinsCA p.R199Q Missense 4/18 - 1
7-140808905-T-A c.595A>T p.R199* Nonsense 4/18 - 1
7-140808905-T-C c.595A>G p.R199G Missense 4/18 - 3
7-140808906-G-A c.594C>T p.Y198= Synonymous 4/18 - 2
7-140808907-T-A c.593A>T p.Y198F Missense 4/18 - 1
7-140808907-T-C c.593A>G p.Y198C Missense 4/18 - 1
7-140808908-A-G c.592T>C p.Y198H Missense 4/18 - 2
7-140808909-AAC-CAT c.589_591delinsATG p.V197M Missense 4/18 - 1
7-140808909-A-C c.591T>G p.V197= Synonymous 4/18 - 1
7-140808909-A-G c.591T>C p.V197= Synonymous 4/18 - 1
7-140808909-A-T c.591T>A p.V197= Synonymous 4/18 - 1
7-140808910-A-C c.590T>G p.V197G Missense 4/18 - 1
7-140808910-A-G c.590T>C p.V197A Missense 4/18 - 1
7-140808911-C-A c.589G>T p.V197F Missense 4/18 - 1
7-140808911-C-G c.589G>C p.V197L Missense 4/18 - 1
7-140808911-C-T c.589G>A p.V197I Missense 4/18 - 3
7-140808913-G-A c.587C>T p.A196V Missense 4/18 - 4
7-140808913-G-T c.587C>A p.A196D Missense 4/18 - 1
7-140808914-C-A c.586G>T p.A196S Missense 4/18 - 2
7-140808914-C-T c.586G>A p.A196T Missense 4/18 - 4
7-140808916-C-A c.584G>T p.C195F Missense 4/18 - 4
7-140808916-C-T c.584G>A p.C195Y Missense 4/18 - 2
7-140808916-C-G c.584G>C p.C195S Missense 4/18 - 1
7-140808917-A-C c.583T>G p.C195G Missense 4/18 - 1
7-140808917-A-G c.583T>C p.C195R Missense 4/18 - 1
7-140808917-A-T c.583T>A p.C195S Missense 4/18 - 1
7-140808918-G-A c.582C>T p.C194= Synonymous 4/18 - 2
7-140808918-G-T c.582C>A p.C194* Nonsense 4/18 - 2
7-140808919-C-A c.581G>T p.C194F Missense 4/18 - 2
7-140808919-CA-GC c.580_581delinsGC p.C194A Missense 4/18 - 1
7-140808919-CA-GT c.580_581delinsAC p.C194T Missense 4/18 - 2
7-140808919-C-T c.581G>A p.C194Y Missense 4/18 - 1
7-140808920-A-C c.580T>G p.C194G Missense 4/18 - 2
7-140808920-A-G c.580T>C p.C194R Missense 4/18 - 1
7-140808921-C-A c.579G>T p.E193D Missense 4/18 - 1
7-140808921-C-T c.579G>A p.E193= Synonymous 4/18 - 2
7-140808922-T-A c.578A>T p.E193V Missense 4/18 - 1
7-140808922-T-C c.578A>G p.E193G Missense 4/18 - 1
7-140808923-C-A c.577G>T p.E193* Nonsense 4/18 - 2
7-140808923-C-T c.577G>A p.E193K Missense 4/18 - 1
7-140808924-T-C c.576A>G p.P192= Synonymous 4/18 - 1
7-140808925-G-A c.575C>T p.P192L Missense 4/18 - 4
7-140808925-G-C c.575C>G p.P192R Missense 4/18 - 3
7-140808925-G-T c.575C>A p.P192Q Missense 4/18 - 2
7-140808926-G-A c.574C>T p.P192S Missense 4/18 - 1
7-140808926-G-T c.574C>A p.P192T Missense 4/18 - 1
7-140808927-G-A c.573C>T p.I191= Synonymous 4/18 - 4
7-140808928-A-T c.572T>A p.I191N Missense 4/18 - 1
7-140808930-T-G c.570A>C p.L190= Synonymous 4/18 - 1
7-140808931-A-G c.569T>C p.L190P Missense 4/18 - 2
7-140808932-G-A c.568C>T p.L190= Synonymous 4/18 - 3
7-140808932-G-T c.568C>A p.L190I Missense 4/18 - 4
7-140808934-C-A c.566G>T p.G189V Missense 4/18 - 1
7-140808934-C-T c.566G>A p.G189D Missense 4/18 - 3
7-140808928-ATTAGACCTCTCATCATCAGTGCTTTCT-A c.545_571del p.K182_L190del InFrameDeletion 4/18 - 1
7-140808935-C-A c.565G>T p.G189C Missense 4/18 - 4
7-140808935-C-G c.565G>C p.G189R Missense 4/18 - 1
7-140808935-C-T c.565G>A p.G189S Missense 4/18 - 1
7-140808936-T-C c.564A>G p.R188= Synonymous 4/18 - 1
7-140808936-TCT-ACA c.562_564delinsTGT p.R188C Missense 4/18 - 2
7-140808936-TCT-ATG c.562_564delinsCAT p.R188H Missense 4/18 - 5
7-140808936-T-G c.564A>C p.R188S Missense 4/18 - 1
7-140808937-C-G c.563G>C p.R188T Missense 4/18 - 1
7-140808937-C-T c.563G>A p.R188K Missense 4/18 - 2
7-140808937-CT-AG c.562_563inv p.R188L Missense 4/18 - 17
7-140808937-CT-GC c.562_563delinsGC p.R188A Missense 4/18 - 1
7-140808937-CT-TG c.562_563delinsCA p.R188Q Missense 4/18 - 1
7-140808938-T-A c.562A>T p.R188* Nonsense 4/18 - 1
7-140808938-T-C c.562A>G p.R188G Missense 4/18 - 3
7-140808939-C-A c.561G>T p.M187I Missense 4/18 - 3
7-140808939-C-G c.561G>C p.M187I Missense 4/18 - 2
7-140808939-C-T c.561G>A p.M187I Missense 4/18 - 2
7-140808941-T-A c.559A>T p.M187L Missense 4/18 - 1
7-140808941-T-C c.559A>G p.M187V Missense 4/18 - 2
7-140808941-T-G c.559A>C p.M187L Missense 4/18 - 1
7-140808942-C-A c.558G>T p.M186I Missense 4/18 - 2
7-140808943-A-T c.557T>A p.M186K Missense 4/18 - 1
7-140808943-AT-CA c.556_557delinsTG p.M186W Missense 4/18 - 1
7-140808943-AT-GC c.556_557delinsGC p.M186A Missense 4/18 - 1
7-140808943-AT-TC c.556_557delinsGA p.M186E Missense 4/18 - 1
7-140808944-T-A c.556A>T p.M186L Missense 4/18 - 1
7-140808945-C-A c.555G>T p.L185= Synonymous 4/18 - 2
7-140808945-C-G c.555G>C p.L185= Synonymous 4/18 - 1
7-140808945-C-T c.555G>A p.L185= Synonymous 4/18 - 2
7-140808947-G-A c.553C>T p.L185= Synonymous 4/18 - 1
7-140808946-A-T c.554T>A p.L185Q Missense 4/18 - 1
7-140808947-G-C c.553C>G p.L185V Missense 4/18 - 1
7-140808947-G-T c.553C>A p.L185M Missense 4/18 - 1
7-140808948-TG-GT c.551_552delinsAC p.A184D Missense 4/18 - 1
7-140808949-G-A c.551C>T p.A184V Missense 4/18 - 3
7-140808950-C-A c.550G>T p.A184S Missense 4/18 - 2
7-140808950-C-T c.550G>A p.A184T Missense 4/18 - 4
7-140808951-T-A c.549A>T p.K183N Missense 4/18 - 1
7-140808951-T-C c.549A>G p.K183= Synonymous 4/18 - 1
7-140808951-T-G c.549A>C p.K183N Missense 4/18 - 1
7-140808951-TTT-ATG c.547_549delinsCAT p.K183H Missense 4/18 - 1
7-140808952-T-C c.548A>G p.K183R Missense 4/18 - 1
7-140808952-TT-GC c.547_548delinsGC p.K183A Missense 4/18 - 1
7-140808953-T-C c.547A>G p.K183E Missense 4/18 - 7
7-140808954-C-A c.546G>T p.K182N Missense 4/18 - 1
7-140808955-T-C c.545A>G p.K182R Missense 4/18 - 1
7-140808956-T-TA c.543_544insT p.K182* Nonsense 4/18 - 1
7-140808954-CT-C c.545del p.K182Rfs*4 Frameshift 4/18 - 1
7-140808957-TAG-AAA c.541_543delinsTTT p.L181F Missense 4/18 - 3
7-140808959-G-T c.541C>A p.L181I Missense 4/18 - 3
7-140808960-A-T c.540T>A p.S180R Missense 4/18 - 1
7-140808961-C-A c.539G>T p.S180I Missense 4/18 - 1
7-140808961-C-G c.539G>C p.S180T Missense 4/18 - 1
7-140808961-C-T c.539G>A p.S180N Missense 4/18 - 2
7-140808961-CT-AA c.538_539delinsTT p.S180F Missense 4/18 - 1
7-140808962-T-C c.538A>G p.S180G Missense 4/18 - 2
7-140808963-G-A c.537C>T p.D179= Synonymous 4/18 - 1
7-140808963-G-C c.537C>G p.D179E Missense 4/18 - 1
7-140808963-G-T c.537C>A p.D179E Missense 4/18 - 4
7-140808964-T-C c.536A>G p.D179G Missense 4/18 - 5
7-140808964-T-G c.536A>C p.D179A Missense 4/18 - 1
7-140808965-C-A c.535G>T p.D179Y Missense 4/18 - 1
7-140808965-C-T c.535G>A p.D179N Missense 4/18 - 4
7-140808966-TCG-ACA c.532_534delinsTGT p.R178C Missense 4/18 - 3
7-140808967-C-A c.533G>T p.R178L Missense 4/18 - 1
7-140808967-C-G c.533G>C p.R178P Missense 4/18 - 1
7-140808967-CG-GC c.532_533delinsGC p.R178A Missense 4/18 - 1
7-140808967-C-T c.533G>A p.R178Q Missense 4/18 - 2
7-140808966-T-A c.534A>T p.R178= Synonymous 4/18 - 2
7-140808966-T-C c.534A>G p.R178= Synonymous 4/18 - 1
7-140808966-T-G c.534A>C p.R178= Synonymous 4/18 - 1
7-140808968-G-A c.532C>T p.R178* Nonsense 4/18 - 10
7-140808968-G-C c.532C>G p.R178G Missense 4/18 - 1
7-140808968-G-T c.532C>A p.R178= Synonymous 4/18 - 1
7-140808967-CG-C c.532del p.R178Efs*4 Frameshift 4/18 - 1
7-140808969-G-A c.531C>T p.V177= Synonymous 4/18 - 1
7-140808969-G-T c.531C>A p.V177= Synonymous 4/18 - 1
7-140808971-C-A c.529G>T p.V177F Missense 4/18 - 1
7-140808971-C-G c.529G>C p.V177L Missense 4/18 - 1
7-140808971-C-T c.529G>A p.V177I Missense 4/18 - 2
7-140808972-T-A c.528A>T p.T176= Synonymous 4/18 - 1
7-140808972-T-C c.528A>G p.T176= Synonymous 4/18 - 1
7-140808972-TG-CA c.527_528inv p.T176M Missense 4/18 - 1
7-140808972-TGT-ACA c.526_528inv p.T176C Missense 4/18 - 1
7-140808973-G-A c.527C>T p.T176I Missense 4/18 - 2
7-140808973-G-T c.527C>A p.T176K Missense 4/18 - 2
7-140808974-T-C c.526A>G p.T176A Missense 4/18 - 2
7-140808975-AAC-CAT c.523_525delinsATG p.V175M Missense 4/18 - 1
7-140808976-A-C c.524T>G p.V175G Missense 4/18 - 2
7-140808977-C-A c.523G>T p.V175F Missense 4/18 - 1
7-140808977-C-T c.523G>A p.V175I Missense 4/18 - 1
7-140808978-T-A c.522A>T p.G174= Synonymous 4/18 - 1
7-140808978-T-C c.522A>G p.G174= Synonymous 4/18 - 1
7-140808978-TCC-ACA c.520_522delinsTGT p.G174C Missense 4/18 - 1
7-140808978-TCC-GCT c.520_522delinsAGC p.G174S Missense 4/18 - 2
7-140808978-T-G c.522A>C p.G174= Synonymous 4/18 - 1
7-140808979-C-T c.521G>A p.G174E Missense 4/18 - 2
7-140808980-C-A c.520G>T p.G174* Nonsense 4/18 - 1
7-140808981-A-G c.519T>C p.C173= Synonymous 4/18 - 1
7-140808982-C-A c.518G>T p.C173F Missense 4/18 - 1
7-140808984-C-A c.516G>T p.R172S Missense 4/18 - 5
7-140808984-CCT-ATG c.514_516delinsCAT p.R172H Missense 4/18 - 105
7-140808984-C-G c.516G>C p.R172S Missense 4/18 - 3
7-140808984-C-T c.516G>A p.R172= Synonymous 4/18 - 1
7-140808986-T-G c.514A>C p.R172= Synonymous 4/18 - 1
7-140808985-C-A c.515G>T p.R172M Missense 4/18 - 5
7-140808985-C-T c.515G>A p.R172K Missense 4/18 - 9
7-140808985-CT-GG c.514_515delinsCC p.R172P Missense 4/18 - 3
7-140808985-CT-TC c.514_515delinsGA p.R172E Missense 4/18 - 1
7-140808986-T-A c.514A>T p.R172W Missense 4/18 - 3
7-140808986-T-C c.514A>G p.R172G Missense 4/18 - 3
7-140808988-G-T c.512C>A p.A171E Missense 4/18 - 4
7-140808989-C-A c.511G>T p.A171S Missense 4/18 - 3
7-140808989-C-T c.511G>A p.A171T Missense 4/18 - 3
7-140808989-C-CA c.510dup p.A171Cfs*43 Frameshift 4/18 - 1
7-140808990-A-G c.510T>C p.P170= Synonymous 4/18 - 2
7-140808990-A-T c.510T>A p.P170= Synonymous 4/18 - 1
7-140808991-G-A c.509C>T p.P170L Missense 4/18 - 3
7-140808991-G-T c.509C>A p.P170H Missense 4/18 - 1
7-140808992-G-A c.508C>T p.P170S Missense 4/18 - 3
7-140808993-T-C c.507A>G p.V169= Synonymous 4/18 - 1
7-140808994-A-G c.506T>C p.V169A Missense 4/18 - 1
7-140809167-T-G c.505-172A>C - IntronicSNV - 3/17 2
7-140809487-C-G c.505-492G>C - IntronicSNV - 3/17 2
7-140809909-T-TCC c.505-915_505-914insGG - IntronicInsertion - 3/17 1
7-140809916-T-C c.505-921A>G - IntronicSNV - 3/17 1
7-140810123-A-G c.505-1128T>C - IntronicSNV - 3/17 1
7-140810891-C-A c.505-1896G>T - IntronicSNV - 3/17 1
7-140811144-C-G c.505-2149G>C - IntronicSNV - 3/17 1
7-140811615-G-T c.505-2620C>A - IntronicSNV - 3/17 1
7-140811625-T-C c.505-2630A>G - IntronicSNV - 3/17 1
7-140811960-G-A c.505-2965C>T - IntronicSNV - 3/17 1
7-140812492-C-T c.505-3497G>A - IntronicSNV - 3/17 1
7-140812861-T-C c.505-3866A>G - IntronicSNV - 3/17 1
7-140813084-A-G c.505-4089T>C - IntronicSNV - 3/17 1
7-140813617-A-C c.505-4622T>G - IntronicSNV - 3/17 1
7-140813617-A-G c.505-4622T>C - IntronicSNV - 3/17 1
7-140813733-G-A c.505-4738C>T - IntronicSNV - 3/17 1
7-140813850-T-C c.505-4855A>G - IntronicSNV - 3/17 1
7-140814331-A-G c.505-5336T>C - IntronicSNV - 3/17 1
7-140814500-A-G c.505-5505T>C - IntronicSNV - 3/17 1
7-140814623-C-T c.505-5628G>A - IntronicSNV - 3/17 1
7-140814830-A-C c.505-5835T>G - IntronicSNV - 3/17 1
7-140814830-A-G c.505-5835T>C - IntronicSNV - 3/17 1
7-140814830-A-T c.505-5835T>A - IntronicSNV - 3/17 1
7-140814975-T-C c.505-5980A>G - IntronicSNV - 3/17 1
7-140815106-C-T c.505-6111G>A - IntronicSNV - 3/17 1
7-140815125-A-G c.505-6130T>C - IntronicSNV - 3/17 1
7-140815125-A-T c.505-6130T>A - IntronicSNV - 3/17 1
7-140815239-G-A c.505-6244C>T - IntronicSNV - 3/17 1
7-140815239-G-T c.505-6244C>A - IntronicSNV - 3/17 1
7-140815599-A-C c.505-6604T>G - IntronicSNV - 3/17 1
7-140815599-A-G c.505-6604T>C - IntronicSNV - 3/17 1
7-140815668-T-C c.505-6673A>G - IntronicSNV - 3/17 1
7-140815688-A-G c.505-6693T>C - IntronicSNV - 3/17 1
7-140815791-C-T c.505-6796G>A - IntronicSNV - 3/17 1
7-140816933-C-A c.505-7938G>T - IntronicSNV - 3/17 1
7-140816933-C-T c.505-7938G>A - IntronicSNV - 3/17 1
7-140817320-G-A c.505-8325C>T - IntronicSNV - 3/17 1
7-140817644-T-C c.505-8649A>G - IntronicSNV - 3/17 1
7-140818128-T-C c.505-9133A>G - IntronicSNV - 3/17 1
7-140818223-A-T c.505-9228T>A - IntronicSNV - 3/17 1
7-140818461-C-T c.505-9466G>A - IntronicSNV - 3/17 1
7-140818557-C-T c.505-9562G>A - IntronicSNV - 3/17 1
7-140819168-C-T c.505-10173G>A - IntronicSNV - 3/17 1
7-140819398-T-C c.505-10403A>G - IntronicSNV - 3/17 1
7-140819439-T-C c.505-10444A>G - IntronicSNV - 3/17 1
7-140820873-C-A c.505-11878G>T - IntronicSNV - 3/17 1
7-140820933-A-G c.505-11938T>C - IntronicSNV - 3/17 1
7-140821264-G-A c.505-12269C>T - IntronicSNV - 3/17 1
7-140821550-C-T c.505-12555G>A - IntronicSNV - 3/17 1
7-140821719-G-A c.505-12724C>T - IntronicSNV - 3/17 1
7-140821741-C-T c.505-12746G>A - IntronicSNV - 3/17 1
7-140821936-T-C c.504+12673A>G - IntronicSNV - 3/17 1
7-140822067-T-C c.504+12542A>G - IntronicSNV - 3/17 1
7-140822262-C-A c.504+12347G>T - IntronicSNV - 3/17 1
7-140822273-A-G c.504+12336T>C - IntronicSNV - 3/17 1
7-140822753-C-A c.504+11856G>T - IntronicSNV - 3/17 1
7-140822753-C-T c.504+11856G>A - IntronicSNV - 3/17 1
7-140822800-G-C c.504+11809C>G - IntronicSNV - 3/17 1
7-140822905-T-C c.504+11704A>G - IntronicSNV - 3/17 1
7-140824889-G-A c.504+9720C>T - IntronicSNV - 3/17 1
7-140825098-C-T c.504+9511G>A - IntronicSNV - 3/17 1
7-140825630-G-T c.504+8979C>A - IntronicSNV - 3/17 1
7-140825698-A-G c.504+8911T>C - IntronicSNV - 3/17 1
7-140825698-A-T c.504+8911T>A - IntronicSNV - 3/17 1
7-140825919-G-A c.504+8690C>T - IntronicSNV - 3/17 3
7-140826011-A-G c.504+8598T>C - IntronicSNV - 3/17 1
7-140826011-A-T c.504+8598T>A - IntronicSNV - 3/17 1
7-140826083-C-G c.504+8526G>C - IntronicSNV - 3/17 2
7-140826083-C-T c.504+8526G>A - IntronicSNV - 3/17 2
7-140826628-C-T c.504+7981G>A - IntronicSNV - 3/17 1
7-140827382-C-T c.504+7227G>A - IntronicSNV - 3/17 1
7-140827540-G-A c.504+7069C>T - IntronicSNV - 3/17 1
7-140827905-T-C c.504+6704A>G - IntronicSNV - 3/17 1
7-140828000-G-A c.504+6609C>T - IntronicSNV - 3/17 1
7-140828425-T-C c.504+6184A>G - IntronicSNV - 3/17 1
7-140828517-A-G c.504+6092T>C - IntronicSNV - 3/17 3
7-140828517-A-T c.504+6092T>A - IntronicSNV - 3/17 3
7-140829310-T-C c.504+5299A>G - IntronicSNV - 3/17 1
7-140829333-A-G c.504+5276T>C - IntronicSNV - 3/17 1
7-140829380-G-T c.504+5229C>A - IntronicSNV - 3/17 1
7-140830030-A-C c.504+4579T>G - IntronicSNV - 3/17 1
7-140830341-C-T c.504+4268G>A - IntronicSNV - 3/17 1
7-140831365-G-A c.504+3244C>T - IntronicSNV - 3/17 1
7-140831700-TA-T c.504+2908del - IntronicDeletion - 3/17 1
7-140832469-G-A c.504+2140C>T - IntronicSNV - 3/17 1
7-140832469-G-C c.504+2140C>G - IntronicSNV - 3/17 1
7-140832547-G-A c.504+2062C>T - IntronicSNV - 3/17 1
7-140832951-G-C c.504+1658C>G - IntronicSNV - 3/17 1
7-140833572-G-C c.504+1037C>G - IntronicSNV - 3/17 1
7-140833842-G-A c.504+767C>T - IntronicSNV - 3/17 1
7-140834467-C-A c.504+142G>T - IntronicSNV - 3/17 3
7-140834467-C-T c.504+142G>A - IntronicSNV - 3/17 6
7-140834513-C-T c.504+96G>A - IntronicSNV - 3/17 1
7-140834599-A-T c.504+10T>A - IntronicSNV - 3/17 1
7-140834607-A-G c.504+2T>C - IntronicSNV - 3/17 2
7-140834608-C-A c.504+1G>T - IntronicSNV - 3/17 1
7-140834608-C-T c.504+1G>A - IntronicSNV - 3/17 2
7-140834609-C-A c.504G>T p.V168= Synonymous 3/18 - 2
7-140834609-C-T c.504G>A p.V168= Synonymous 3/18 - 1
7-140834610-A-T c.503T>A p.V168E Missense 3/18 - 2
7-140834611-C-A c.502G>T p.V168L Missense 3/18 - 5
7-140834611-C-G c.502G>C p.V168L Missense 3/18 - 2
7-140834611-C-T c.502G>A p.V168M Missense 3/18 - 4
7-140834611-C-CT c.501dup p.V168Sfs*46 Frameshift 3/18 - 2
7-140834614-T-C c.499A>G p.T167A Missense 3/18 - 3
7-140834615-C-A c.498G>T p.R166S Missense 3/18 - 1
7-140834615-CCT-ATG c.496_498delinsCAT p.R166H Missense 3/18 - 1
7-140834615-C-T c.498G>A p.R166= Synonymous 3/18 - 1
7-140834617-T-G c.496A>C p.R166= Synonymous 3/18 - 1
7-140834616-C-A c.497G>T p.R166M Missense 3/18 - 1
7-140834616-C-T c.497G>A p.R166K Missense 3/18 - 1
7-140834616-CT-GC c.496_497delinsGC p.R166A Missense 3/18 - 2
7-140834616-CT-TA c.496_497delinsTA p.R166* Nonsense 3/18 - 1
7-140834617-T-A c.496A>T p.R166W Missense 3/18 - 1
7-140834617-T-C c.496A>G p.R166G Missense 3/18 - 2
7-140834618-C-G c.495G>C p.Q165H Missense 3/18 - 1
7-140834618-C-T c.495G>A p.Q165= Synonymous 3/18 - 2
7-140834620-G-C c.493C>G p.Q165E Missense 3/18 - 1
7-140834621-T-C c.492A>G p.K164= Synonymous 3/18 - 1
7-140834622-T-A c.491A>T p.K164I Missense 3/18 - 1
7-140834622-T-C c.491A>G p.K164R Missense 3/18 - 1
7-140834625-T-C c.488A>G p.N163S Missense 3/18 - 1
7-140834626-T-A c.487A>T p.N163Y Missense 3/18 - 1
7-140834626-T-C c.487A>G p.N163D Missense 3/18 - 2
7-140834627-G-T c.486C>A p.P162= Synonymous 3/18 - 1
7-140834628-G-A c.485C>T p.P162L Missense 3/18 - 1
7-140834629-G-A c.484C>T p.P162S Missense 3/18 - 6
7-140834629-G-C c.484C>G p.P162A Missense 3/18 - 1
7-140834630-C-A c.483G>T p.L161= Synonymous 3/18 - 1
7-140834630-CAG-AAA c.481_483delinsTTT p.L161F Missense 3/18 - 1
7-140834630-CAG-GAT c.481_483delinsATC p.L161I Missense 3/18 - 1
7-140834630-C-G c.483G>C p.L161= Synonymous 3/18 - 2
7-140834630-C-T c.483G>A p.L161= Synonymous 3/18 - 2
7-140834632-G-A c.481C>T p.L161= Synonymous 3/18 - 1
7-140834631-A-G c.482T>C p.L161P Missense 3/18 - 1
7-140834632-G-C c.481C>G p.L161V Missense 3/18 - 1
7-140834633-G-A c.480C>T p.F160= Synonymous 3/18 - 2
7-140834634-A-G c.479T>C p.F160S Missense 3/18 - 2
7-140834636-G-A c.477C>T p.V159= Synonymous 3/18 - 2
7-140834636-G-C c.477C>G p.V159= Synonymous 3/18 - 4
7-140834636-G-T c.477C>A p.V159= Synonymous 3/18 - 1
7-140834638-C-A c.475G>T p.V159F Missense 3/18 - 2
7-140834638-C-T c.475G>A p.V159I Missense 3/18 - 1
7-140834639-T-C c.474A>G p.R158= Synonymous 3/18 - 1
7-140834639-TCT-ACA c.472_474delinsTGT p.R158C Missense 3/18 - 3
7-140834639-TCT-ATG c.472_474delinsCAT p.R158H Missense 3/18 - 4
7-140834641-T-G c.472A>C p.R158= Synonymous 3/18 - 1
7-140834640-C-A c.473G>T p.R158I Missense 3/18 - 1
7-140834640-C-T c.473G>A p.R158K Missense 3/18 - 1
7-140834640-CT-AC c.472_473delinsGT p.R158V Missense 3/18 - 1
7-140834640-CT-AG c.472_473inv p.R158L Missense 3/18 - 6
7-140834640-CT-GC c.472_473delinsGC p.R158A Missense 3/18 - 1
7-140834640-CT-TG c.472_473delinsCA p.R158Q Missense 3/18 - 1
7-140834641-T-A c.472A>T p.R158* Nonsense 3/18 - 2
7-140834641-T-C c.472A>G p.R158G Missense 3/18 - 1
7-140834642-AA-CT c.470_471delinsAG p.V157E Missense 3/18 - 1
7-140834643-A-G c.470T>C p.V157A Missense 3/18 - 1
7-140834643-A-T c.470T>A p.V157D Missense 3/18 - 2
7-140834644-C-A c.469G>T p.V157F Missense 3/18 - 10
7-140834644-C-T c.469G>A p.V157I Missense 3/18 - 11
7-140834645-G-A c.468C>T p.I156= Synonymous 3/18 - 5
7-140834645-G-T c.468C>A p.I156= Synonymous 3/18 - 1
7-140834646-A-G c.467T>C p.I156T Missense 3/18 - 2
7-140834647-T-A c.466A>T p.I156F Missense 3/18 - 3
7-140834647-T-C c.466A>G p.I156V Missense 3/18 - 1
7-140834648-A-G c.465T>C p.P155= Synonymous 3/18 - 1
7-140834649-G-T c.464C>A p.P155H Missense 3/18 - 1
7-140834650-G-A c.463C>T p.P155S Missense 3/18 - 3
7-140834651-T-A c.462A>T p.K154N Missense 3/18 - 1
7-140834651-T-G c.462A>C p.K154N Missense 3/18 - 1
7-140834652-T-A c.461A>T p.K154I Missense 3/18 - 1
7-140834654-T-A c.459A>T p.Q153H Missense 3/18 - 1
7-140834654-T-C c.459A>G p.Q153= Synonymous 3/18 - 6
7-140834654-T-G c.459A>C p.Q153H Missense 3/18 - 1
7-140834655-T-C c.458A>G p.Q153R Missense 3/18 - 1
7-140834656-G-A c.457C>T p.Q153* Nonsense 3/18 - 4
7-140834658-G-A c.455C>T p.P152L Missense 3/18 - 3
7-140834658-G-C c.455C>G p.P152R Missense 3/18 - 1
7-140834658-G-T c.455C>A p.P152Q Missense 3/18 - 2
7-140834657-T-TG c.455dup p.Q153Tfs*6 Frameshift 3/18 - 1
7-140834659-G-A c.454C>T p.P152S Missense 3/18 - 5
7-140834660-T-A c.453A>T p.S151= Synonymous 3/18 - 1
7-140834660-TG-AC c.452_453delinsGT p.S151C Missense 3/18 - 1
7-140834660-TGA-GTC c.451_453delinsGAC p.S151D Missense 3/18 - 5
7-140834661-G-A c.452C>T p.S151L Missense 3/18 - 3
7-140834661-GA-TC c.451_452inv p.S151E Missense 3/18 - 1
7-140834661-G-C c.452C>G p.S151* Nonsense 3/18 - 1
7-140834662-A-C c.451T>G p.S151A Missense 3/18 - 5
7-140834663-C-A c.450G>T p.K150N Missense 3/18 - 1
7-140834663-C-T c.450delinsA p.K150K Missense 3/18 - 1
7-140834664-T-C c.449A>G p.K150R Missense 3/18 - 1
7-140834664-T-G c.449A>C p.K150T Missense 3/18 - 1
7-140834665-T-C c.448A>G p.K150E Missense 3/18 - 1
7-140834666-G-A c.447C>T p.P149= Synonymous 3/18 - 1
7-140834666-G-C c.447C>G p.P149= Synonymous 3/18 - 1
7-140834666-G-T c.447C>A p.P149= Synonymous 3/18 - 2
7-140834667-G-A c.446C>T p.P149L Missense 3/18 - 1
7-140834667-G-T c.446C>A p.P149H Missense 3/18 - 2
7-140834668-G-A c.445C>T p.P149S Missense 3/18 - 3
7-140834668-G-T c.445C>A p.P149T Missense 3/18 - 2
7-140834669-G-C c.444C>G p.N148K Missense 3/18 - 1
7-140834669-G-T c.444C>A p.N148K Missense 3/18 - 1
7-140834670-T-C c.443A>G p.N148S Missense 3/18 - 5
7-140834672-G-A c.441C>T p.S147= Synonymous 3/18 - 1
7-140834672-G-T c.441C>A p.S147R Missense 3/18 - 1
7-140834673-C-A c.440G>T p.S147I Missense 3/18 - 2
7-140834673-C-T c.440G>A p.S147N Missense 3/18 - 6
7-140834673-CT-AG c.439_440inv p.S147L Missense 3/18 - 1
7-140834674-T-C c.439A>G p.S147G Missense 3/18 - 4
7-140834675-C-A c.438G>T p.R146= Synonymous 3/18 - 2
7-140834675-CC-AT c.437_438delinsAT p.R146H Missense 3/18 - 1
7-140834675-CCG-ACA c.436_438delinsTGT p.R146C Missense 3/18 - 2
7-140834675-CCG-GCT c.436_438delinsAGC p.R146S Missense 3/18 - 1
7-140834676-C-A c.437G>T p.R146L Missense 3/18 - 5
7-140834676-CG-TA c.436_437delinsTA p.R146* Nonsense 3/18 - 1
7-140834676-C-T c.437G>A p.R146Q Missense 3/18 - 6
7-140834675-C-G c.438G>C p.R146= Synonymous 3/18 - 1
7-140834675-C-T c.438G>A p.R146= Synonymous 3/18 - 1
7-140834677-G-A c.436C>T p.R146W Missense 3/18 - 23
7-140834677-G-C c.436C>G p.R146G Missense 3/18 - 2
7-140834677-G-T c.436C>A p.R146= Synonymous 3/18 - 2
7-140834678-T-A c.435A>T p.A145= Synonymous 3/18 - 1
7-140834678-T-C c.435A>G p.A145= Synonymous 3/18 - 1
7-140834678-T-G c.435A>C p.A145= Synonymous 3/18 - 1
7-140834679-G-A c.434C>T p.A145V Missense 3/18 - 2
7-140834679-G-T c.434C>A p.A145E Missense 3/18 - 2
7-140834680-C-A c.433G>T p.A145S Missense 3/18 - 2
7-140834680-C-T c.433G>A p.A145T Missense 3/18 - 4
7-140834681-C-A c.432G>T p.V144= Synonymous 3/18 - 1
7-140834682-A-ATG c.430_431insCA p.V144Afs*39 Frameshift 3/18 - 1
7-140834682-A-G c.431T>C p.V144A Missense 3/18 - 2
7-140834682-A-T c.431T>A p.V144E Missense 3/18 - 1
7-140834683-C-A c.430G>T p.V144L Missense 3/18 - 2
7-140834684-A-AT c.428dup p.D143Efs*16 Frameshift 3/18 - 1
7-140834685-T-C c.428A>G p.D143G Missense 3/18 - 2
7-140834686-C-A c.427G>T p.D143Y Missense 3/18 - 1
7-140834686-C-G c.427G>C p.D143H Missense 3/18 - 2
7-140834686-C-T c.427G>A p.D143N Missense 3/18 - 3
7-140834687-T-A c.426A>T p.T142= Synonymous 3/18 - 1
7-140834687-T-C c.426A>G p.T142= Synonymous 3/18 - 1
7-140834688-G-A c.425C>T p.T142I Missense 3/18 - 1
7-140834689-T-A c.424A>T p.T142S Missense 3/18 - 1
7-140834689-T-C c.424A>G p.T142A Missense 3/18 - 1
7-140834690-G-A c.423C>T p.P141= Synonymous 3/18 - 2
7-140834690-G-C c.423C>G p.P141= Synonymous 3/18 - 1
7-140834690-G-GT c.422_423insA p.T142Hfs*17 Frameshift 3/18 - 1
7-140834690-G-T c.423C>A p.P141= Synonymous 3/18 - 2
7-140834691-G-A c.422C>T p.P141L Missense 3/18 - 7
7-140834691-G-C c.422C>G p.P141R Missense 3/18 - 2
7-140834691-G-T c.422C>A p.P141H Missense 3/18 - 1
7-140834692-G-A c.421C>T p.P141S Missense 3/18 - 5
7-140834692-G-T c.421C>A p.P141T Missense 3/18 - 2
7-140834694-T-C c.419A>G p.N140S Missense 3/18 - 2
7-140834694-T-G c.419A>C p.N140T Missense 3/18 - 5
7-140834696-TTTG-T c.415_417del p.Q139del InFrameDeletion 3/18 - 1
7-140834697-T-A c.416A>T p.Q139L Missense 3/18 - 1
7-140834697-T-C c.416A>G p.Q139R Missense 3/18 - 1
7-140834698-G-A c.415C>T p.Q139* Nonsense 3/18 - 2
7-140834698-G-C c.415C>G p.Q139E Missense 3/18 - 2
7-140834698-G-T c.415C>A p.Q139K Missense 3/18 - 2
7-140834699-A-T c.414T>A p.F138L Missense 3/18 - 1
7-140834701-A-C c.412T>G p.F138V Missense 3/18 - 1
7-140834702-A-C c.411T>G p.V137= Synonymous 3/18 - 2
7-140834702-A-G c.411T>C p.V137= Synonymous 3/18 - 1
7-140834702-A-T c.411T>A p.V137= Synonymous 3/18 - 1
7-140834698-G-GA c.414dup p.Q139Sfs*20 Frameshift 3/18 - 1
7-140834703-A-C c.410T>G p.V137G Missense 3/18 - 1
7-140834704-C-A c.409G>T p.V137F Missense 3/18 - 2
7-140834704-C-T c.409G>A p.V137I Missense 3/18 - 1
7-140834705-T-A c.408A>T p.S136= Synonymous 3/18 - 2
7-140834705-T-C c.408A>G p.S136= Synonymous 3/18 - 2
7-140834705-T-G c.408A>C p.S136= Synonymous 3/18 - 1
7-140834706-G-A c.407C>T p.S136L Missense 3/18 - 7
7-140834706-GA-TC c.406_407inv p.S136E Missense 3/18 - 1
7-140834706-G-T c.407C>A p.S136* Nonsense 3/18 - 1
7-140834707-A-AG c.405_406insC p.S136Lfs*23 Frameshift 3/18 - 1
7-140834707-A-C c.406T>G p.S136A Missense 3/18 - 4
7-140834707-A-G c.406T>C p.S136P Missense 3/18 - 3
7-140834708-AAG-TTA c.403_405delinsTAA p.L135* Nonsense 3/18 - 1
7-140834708-A-C c.405T>G p.L135= Synonymous 3/18 - 2
7-140834708-A-G c.405T>C p.L135= Synonymous 3/18 - 2
7-140834708-A-T c.405T>A p.L135= Synonymous 3/18 - 2
7-140834710-G-A c.403C>T p.L135F Missense 3/18 - 1
7-140834710-G-C c.403C>G p.L135V Missense 3/18 - 2
7-140834710-G-T c.403C>A p.L135I Missense 3/18 - 1
7-140834712-G-A c.401C>T p.S134F Missense 3/18 - 5
7-140834712-GA-CG c.400_401delinsCG p.S134R Missense 3/18 - 1
7-140834712-GA-TC c.400_401inv p.S134D Missense 3/18 - 1
7-140834712-GA-TT c.400_401delinsAA p.S134N Missense 3/18 - 1
7-140834712-G-C c.401C>G p.S134C Missense 3/18 - 1
7-140834713-A-G c.400T>C p.S134P Missense 3/18 - 2
7-140834714-T-A c.399A>T p.S133= Synonymous 3/18 - 1
7-140834714-T-C c.399A>G p.S133= Synonymous 3/18 - 2
7-140834714-TG-AA c.398_399delinsTT p.S133F Missense 3/18 - 1
7-140834715-G-A c.398C>T p.S133L Missense 3/18 - 2
7-140834715-GA-CC c.397_398delinsGG p.S133G Missense 3/18 - 1
7-140834716-A-C c.397T>G p.S133A Missense 3/18 - 1
7-140834716-A-G c.397T>C p.S133P Missense 3/18 - 1
7-140834717-A-C c.396T>G p.P132= Synonymous 3/18 - 1
7-140834717-A-G c.396T>C p.P132= Synonymous 3/18 - 1
7-140834717-AGG-CTC c.394_396delinsGAG p.P132E Missense 3/18 - 1
7-140834717-A-T c.396T>A p.P132= Synonymous 3/18 - 3
7-140834718-G-A c.395C>T p.P132L Missense 3/18 - 3
7-140834718-G-C c.395C>G p.P132R Missense 3/18 - 1
7-140834718-G-T c.395C>A p.P132H Missense 3/18 - 1
7-140834719-G-A c.394C>T p.P132S Missense 3/18 - 2
7-140834720-T-A c.393A>T p.L131= Synonymous 3/18 - 4
7-140834720-T-C c.393A>G p.L131= Synonymous 3/18 - 6
7-140834720-T-G c.393A>C p.L131= Synonymous 3/18 - 3
7-140834722-G-A c.391C>T p.L131= Synonymous 3/18 - 4
7-140834721-A-G c.392T>C p.L131P Missense 3/18 - 2
7-140834721-A-T c.392T>A p.L131Q Missense 3/18 - 1
7-140834721-A-AG c.391dup p.L131Pfs*28 Frameshift 3/18 - 1
7-140834722-G-GCTTC c.390_391insGAAG p.L131Efs*29 Frameshift 3/18 - 1
7-140834723-C-A c.390G>T p.V130= Synonymous 3/18 - 1
7-140834723-GCACTGAAAGGCT-G c.379_390del p.S127_V130del InFrameDeletion 3/18 - 1
7-140834725-C-A c.388G>T p.V130L Missense 3/18 - 1
7-140834725-C-T c.388G>A p.V130M Missense 3/18 - 2
7-140834726-CTGA-C c.385_387del p.S129del InFrameDeletion 3/18 - 1
7-140834726-T-A c.387A>T p.S129= Synonymous 3/18 - 1
7-140834726-T-C c.387A>G p.S129= Synonymous 3/18 - 1
7-140834726-TG-AA c.386_387delinsTT p.S129F Missense 3/18 - 1
7-140834727-G-A c.386C>T p.S129L Missense 3/18 - 10
7-140834728-A-C c.385T>G p.S129A Missense 3/18 - 1
7-140834729-A-C c.384T>G p.L128= Synonymous 3/18 - 1
7-140834729-A-G c.384T>C p.L128= Synonymous 3/18 - 1
7-140834729-A-T c.384T>A p.L128= Synonymous 3/18 - 1
7-140834730-A-G c.383T>C p.L128P Missense 3/18 - 1
7-140834730-A-T c.383T>A p.L128H Missense 3/18 - 1
7-140834731-G-T c.382C>A p.L128I Missense 3/18 - 1
7-140834730-AG-A c.382del p.L128Ffs*54 Frameshift 3/18 - 1
7-140834732-G-T c.381C>A p.S127R Missense 3/18 - 2
7-140834733-C-A c.380G>T p.S127I Missense 3/18 - 1
7-140834733-C-G c.380G>C p.S127T Missense 3/18 - 2
7-140834733-CT-AA c.379_380delinsTT p.S127F Missense 3/18 - 1
7-140834733-CT-AG c.379_380inv p.S127L Missense 3/18 - 2
7-140834733-CT-GC c.379_380delinsGC p.S127A Missense 3/18 - 7
7-140834733-CT-GG c.379_380delinsCC p.S127P Missense 3/18 - 2
7-140834733-CT-TA c.379_380delinsTA p.S127Y Missense 3/18 - 1
7-140834734-T-A c.379A>T p.S127C Missense 3/18 - 2
7-140834734-T-C c.379A>G p.S127G Missense 3/18 - 3
7-140834735-A-T c.378T>A p.S126= Synonymous 3/18 - 1
7-140834736-G-A c.377C>T p.S126F Missense 3/18 - 3
7-140834736-GA-AG c.376_377delinsCT p.S126L Missense 3/18 - 1
7-140834736-G-C c.377C>G p.S126C Missense 3/18 - 1
7-140834737-A-T c.376T>A p.S126T Missense 3/18 - 1
7-140834738-A-C c.375T>G p.S125= Synonymous 3/18 - 4
7-140834738-A-G c.375T>C p.S125= Synonymous 3/18 - 2
7-140834738-A-T c.375T>A p.S125= Synonymous 3/18 - 1
7-140834739-G-A c.374C>T p.S125F Missense 3/18 - 3
7-140834739-GA-AG c.373_374delinsCT p.S125L Missense 3/18 - 7
7-140834739-GA-CC c.373_374delinsGG p.S125G Missense 3/18 - 1
7-140834739-GA-CG c.373_374delinsCG p.S125R Missense 3/18 - 1
7-140834740-A-C c.373T>G p.S125A Missense 3/18 - 1
7-140834741-G-A c.372C>T p.S124= Synonymous 3/18 - 1
7-140834740-A-AG c.372dup p.S125Lfs*3 Frameshift 3/18 - 1
7-140834742-G-A c.371C>T p.S124F Missense 3/18 - 5
7-140834742-GA-TC c.370_371inv p.S124D Missense 3/18 - 1
7-140834742-GA-TT c.370_371delinsAA p.S124N Missense 3/18 - 2
7-140834742-G-C c.371C>G p.S124C Missense 3/18 - 1
7-140834743-A-C c.370T>G p.S124A Missense 3/18 - 2
7-140834744-A-G c.369T>C p.S123= Synonymous 3/18 - 4
7-140834745-G-A c.368C>T p.S123F Missense 3/18 - 4
7-140834747-A-G c.366T>C p.S122= Synonymous 3/18 - 3
7-140834748-G-A c.365C>T p.S122F Missense 3/18 - 5
7-140834748-GA-AG c.364_365delinsCT p.S122L Missense 3/18 - 1
7-140834748-G-T c.365C>A p.S122Y Missense 3/18 - 3
7-140834750-T-C c.363A>G p.T121= Synonymous 3/18 - 1
7-140834751-G-A c.362C>T p.T121I Missense 3/18 - 4
7-140834751-G-T c.362C>A p.T121K Missense 3/18 - 1
7-140834752-T-A c.361A>T p.T121S Missense 3/18 - 1
7-140834752-T-C c.361A>G p.T121A Missense 3/18 - 2
7-140834754-A-C c.359T>G p.V120G Missense 3/18 - 1
7-140834754-A-G c.359T>C p.V120A Missense 3/18 - 1
7-140834755-C-A c.358G>T p.V120F Missense 3/18 - 2
7-140834755-C-G c.358G>C p.V120L Missense 3/18 - 1
7-140834755-C-T c.358G>A p.V120I Missense 3/18 - 8
7-140834756-G-A c.357C>T p.T119= Synonymous 3/18 - 4
7-140834756-G-C c.357C>G p.T119= Synonymous 3/18 - 1
7-140834756-GG-CA c.356_357delinsTG p.T119M Missense 3/18 - 1
7-140834756-G-T c.357C>A p.T119= Synonymous 3/18 - 1
7-140834757-G-A c.356C>T p.T119I Missense 3/18 - 2
7-140834757-G-C c.356C>G p.T119S Missense 3/18 - 24
7-140834758-T-A c.355A>T p.T119S Missense 3/18 - 17
7-140834758-T-C c.355A>G p.T119A Missense 3/18 - 1
7-140834759-A-G c.354T>C p.D118= Synonymous 3/18 - 3
7-140834760-T-C c.353A>G p.D118G Missense 3/18 - 1
7-140834761-C-A c.352G>T p.D118Y Missense 3/18 - 4
7-140834761-C-G c.352G>C p.D118H Missense 3/18 - 1
7-140834762-C-A c.351G>T p.M117I Missense 3/18 - 6
7-140834762-C-G c.351G>C p.M117I Missense 3/18 - 5
7-140834762-C-T c.351G>A p.M117I Missense 3/18 - 2
7-140834763-A-C c.350T>G p.M117R Missense 3/18 - 1
7-140834763-A-G c.350T>C p.M117T Missense 3/18 - 1
7-140834763-A-T c.350T>A p.M117K Missense 3/18 - 1
7-140834763-CATTGA-C c.346_350del p.S116Gfs*10 Frameshift 3/18 - 1
7-140834764-T-A c.349A>T p.M117L Missense 3/18 - 3
7-140834764-T-G c.349A>C p.M117L Missense 3/18 - 3
7-140834765-TG-AA c.347_348delinsTT p.S116F Missense 3/18 - 1
7-140834765-TG-AC c.347_348delinsGT p.S116C Missense 3/18 - 1
7-140834765-TGA-GTT c.346_348delinsAAC p.S116N Missense 3/18 - 1
7-140834766-G-A c.347C>T p.S116L Missense 3/18 - 2
7-140834767-A-G c.346T>C p.S116P Missense 3/18 - 3
7-140834768-T-A c.345A>T p.A115= Synonymous 3/18 - 4
7-140834768-T-C c.345A>G p.A115= Synonymous 3/18 - 4
7-140834768-T-G c.345A>C p.A115= Synonymous 3/18 - 3
7-140834769-G-A c.344C>T p.A115V Missense 3/18 - 5
7-140834770-C-A c.343G>T p.A115S Missense 3/18 - 1
7-140834770-C-T c.343G>A p.A115T Missense 3/18 - 6
7-140834771-A-G c.342T>C p.S114= Synonymous 3/18 - 1
7-140834772-G-A c.341C>T p.S114F Missense 3/18 - 6
7-140834772-GA-TT c.340_341delinsAA p.S114N Missense 3/18 - 1
7-140834773-A-T c.340T>A p.S114T Missense 3/18 - 1
7-140834774-G-C c.339C>G p.S113R Missense 3/18 - 3
7-140834774-GCT-CTC c.337_339delinsGAG p.S113E Missense 3/18 - 1
7-140834774-G-T c.339C>A p.S113R Missense 3/18 - 1
7-140834776-T-G c.337A>C p.S113R Missense 3/18 - 1
7-140834772-GAGCTAGAAAC-G c.331_340del p.V111Lfs*68 Frameshift 3/18 - 1
7-140834774-G-GCGA c.338_339insTCG p.S113_S114insR InFrameInsertion 3/18 - 1
7-140834775-C-A c.338G>T p.S113I Missense 3/18 - 12
7-140834775-C-T c.338G>A p.S113N Missense 3/18 - 7
7-140834776-T-A c.337A>T p.S113C Missense 3/18 - 2
7-140834776-T-C c.337A>G p.S113G Missense 3/18 - 1
7-140834777-AGA-CTC c.334_336delinsGAG p.S112E Missense 3/18 - 1
7-140834778-G-C c.335C>G p.S112C Missense 3/18 - 4
7-140834778-G-T c.335C>A p.S112Y Missense 3/18 - 1
7-140834779-A-C c.334T>G p.S112A Missense 3/18 - 4
7-140834779-A-T c.334T>A p.S112T Missense 3/18 - 3
7-140834780-AAC-CAT c.331_333delinsATG p.V111M Missense 3/18 - 1
7-140834780-AA-CT c.332_333delinsAG p.V111E Missense 3/18 - 1
7-140834781-A-C c.332T>G p.V111G Missense 3/18 - 1
7-140834781-AC-CA c.331_332delinsTG p.V111C Missense 3/18 - 3
7-140834782-C-A c.331G>T p.V111F Missense 3/18 - 3
7-140834782-C-G c.331G>C p.V111L Missense 3/18 - 1
7-140834782-C-T c.331G>A p.V111I Missense 3/18 - 1
7-140834783-A-G c.330T>C p.S110= Synonymous 3/18 - 1
7-140834783-A-T c.330T>A p.S110= Synonymous 3/18 - 1
7-140834782-CAGA-C c.328_330del p.S110del InFrameDeletion 3/18 - 1
7-140834784-G-A c.329C>T p.S110F Missense 3/18 - 4
7-140834784-G-C c.329C>G p.S110C Missense 3/18 - 1
7-140834785-A-G c.328T>C p.S110P Missense 3/18 - 1
7-140834786-A-G c.327T>C p.F109= Synonymous 3/18 - 1
7-140834787-AA-GC c.325_326delinsGC p.F109A Missense 3/18 - 1
7-140834787-A-G c.326T>C p.F109S Missense 3/18 - 1
7-140834786-A-C c.327T>G p.F109L Missense 3/18 - 1
7-140834786-A-T c.327T>A p.F109L Missense 3/18 - 1
7-140834788-A-C c.325T>G p.F109V Missense 3/18 - 2
7-140834788-A-G c.325T>C p.F109L Missense 3/18 - 1
7-140834788-A-T c.325T>A p.F109I Missense 3/18 - 4
7-140834790-T-C c.323A>G p.D108G Missense 3/18 - 2
7-140834791-C-A c.322G>T p.D108Y Missense 3/18 - 3
7-140834791-C-T c.322G>A p.D108N Missense 3/18 - 2
7-140834792-AG-CA c.320_321delinsTG p.T107M Missense 3/18 - 1
7-140834793-AG-A c.320del p.T107Mfs*75 Frameshift 3/18 - 1
7-140834793-G-T c.320C>A p.T107N Missense 3/18 - 1
7-140834795-TCC-GCT c.316_318delinsAGC p.G106S Missense 3/18 - 2
7-140834796-C-A c.317G>T p.G106V Missense 3/18 - 7
7-140834796-C-G c.317G>C p.G106A Missense 3/18 - 1
7-140834796-C-T c.317G>A p.G106E Missense 3/18 - 2
7-140834797-C-A c.316G>T p.G106* Nonsense 3/18 - 3
7-140834797-C-G c.316G>C p.G106R Missense 3/18 - 5
7-140834797-C-T c.316G>A p.G106R Missense 3/18 - 10
7-140834798-G-A c.315C>T p.N105= Synonymous 3/18 - 5
7-140834798-G-C c.315C>G p.N105K Missense 3/18 - 1
7-140834799-T-C c.314A>G p.N105S Missense 3/18 - 2
7-140834800-T-A c.313A>T p.N105Y Missense 3/18 - 1
7-140834801-C-A c.312G>T p.G104= Synonymous 3/18 - 1
7-140834801-CCC-GCT c.310_312delinsAGC p.G104S Missense 3/18 - 1
7-140834801-C-T c.312G>A p.G104= Synonymous 3/18 - 3
7-140834802-C-A c.311G>T p.G104V Missense 3/18 - 1
7-140834802-C-T c.311G>A p.G104E Missense 3/18 - 3
7-140834803-C-A c.310G>T p.G104W Missense 3/18 - 4
7-140834803-C-G c.310G>C p.G104R Missense 3/18 - 3
7-140834803-C-T c.310G>A p.G104R Missense 3/18 - 4
7-140834804-C-A c.309G>T p.L103= Synonymous 3/18 - 1
7-140834806-G-A c.307C>T p.L103= Synonymous 3/18 - 2
7-140834805-A-G c.308T>C p.L103P Missense 3/18 - 1
7-140834805-A-T c.308T>A p.L103Q Missense 3/18 - 1
7-140834806-AG-A c.307del p.L103Wfs*79 Frameshift 3/18 - 1
7-140834807-A-C c.306T>G p.S102= Synonymous 3/18 - 3
7-140834807-A-G c.306T>C p.S102= Synonymous 3/18 - 1
7-140834807-A-T c.306T>A p.S102= Synonymous 3/18 - 1
7-140834808-G-A c.305C>T p.S102F Missense 3/18 - 7
7-140834808-GA-CG c.304_305delinsCG p.S102R Missense 3/18 - 1
7-140834808-GA-TT c.304_305delinsAA p.S102N Missense 3/18 - 1
7-140834808-G-C c.305C>G p.S102C Missense 3/18 - 1
7-140834808-G-T c.305C>A p.S102Y Missense 3/18 - 6
7-140834812-C-A c.301G>T p.E101* Nonsense 3/18 - 3
7-140834812-C-T c.301G>A p.E101K Missense 3/18 - 2
7-140834813-C-A c.300G>T p.L100F Missense 3/18 - 1
7-140834813-C-T c.300G>A p.L100= Synonymous 3/18 - 2
7-140834816-T-A c.297A>T p.L99F Missense 3/18 - 1
7-140834816-T-G c.297A>C p.L99F Missense 3/18 - 1
7-140834816-T-C c.297A>G p.L99= Synonymous 3/18 - 1
7-140834818-A-G c.295T>C p.L99= Synonymous 3/18 - 1
7-140834819-C-A c.294G>T p.Q98H Missense 3/18 - 1
7-140834819-C-G c.294G>C p.Q98H Missense 3/18 - 1
7-140834820-T-A c.293A>T p.Q98L Missense 3/18 - 1
7-140834821-G-C c.292C>G p.Q98E Missense 3/18 - 1
7-140834821-GT-G c.291del p.Q97Hfs*85 Frameshift 3/18 - 1
7-140834823-T-G c.290A>C p.Q97P Missense 3/18 - 1
7-140834824-G-T c.289C>A p.Q97K Missense 3/18 - 1
7-140834825-T-TCCAAG c.287_288insCTTGG p.E96Dfs*88 Frameshift 3/18 - 1
7-140834826-T-G c.287A>C p.E96A Missense 3/18 - 1
7-140834827-C-A c.286G>T p.E96* Nonsense 3/18 - 1
7-140834827-C-T c.286G>A p.E96K Missense 3/18 - 1
7-140834828-T-A c.285A>T p.R95S Missense 3/18 - 1
7-140834828-TCT-ATG c.283_285delinsCAT p.R95H Missense 3/18 - 1
7-140834828-TCT-CCA c.283_285delinsTGG p.R95W Missense 3/18 - 2
7-140834828-T-G c.285A>C p.R95S Missense 3/18 - 1
7-140834829-C-A c.284G>T p.R95I Missense 3/18 - 3
7-140834829-C-G c.284G>C p.R95T Missense 3/18 - 7
7-140834830-T-A c.283A>T p.R95* Nonsense 3/18 - 2
7-140834830-T-C c.283A>G p.R95G Missense 3/18 - 2
7-140834832-T-A c.281A>T p.Q94L Missense 3/18 - 1
7-140834833-G-A c.280C>T p.Q94* Nonsense 3/18 - 1
7-140834833-G-C c.280C>G p.Q94E Missense 3/18 - 2
7-140834833-G-T c.280C>A p.Q94K Missense 3/18 - 4
7-140834833-TGTTGG-T c.276_280del p.Q93Kfs*14 Frameshift 3/18 - 1
7-140834834-T-A c.279A>T p.Q93H Missense 3/18 - 1
7-140834834-T-G c.279A>C p.Q93H Missense 3/18 - 2
7-140834836-G-A c.277C>T p.Q93* Nonsense 3/18 - 2
7-140834836-G-T c.277C>A p.Q93K Missense 3/18 - 1
7-140834837-G-A c.276C>T p.L92= Synonymous 3/18 - 1
7-140834837-G-T c.276C>A p.L92= Synonymous 3/18 - 1
7-140834838-A-C c.275T>G p.L92R Missense 3/18 - 1
7-140834838-A-G c.275T>C p.L92P Missense 3/18 - 2
7-140834839-AG-A c.274del p.L92Sfs*90 Frameshift 3/18 - 1
7-140834839-G-A c.274C>T p.L92F Missense 3/18 - 2
7-140834839-G-C c.274C>G p.L92V Missense 3/18 - 1
7-140834840-TGC-AAA c.271_273delinsTTT p.A91F Missense 3/18 - 1
7-140834840-TGC-ACA c.271_273delinsTGT p.A91C Missense 3/18 - 2
7-140834840-TGC-ATA c.271_273delinsTAT p.A91Y Missense 3/18 - 1
7-140834840-TGC-CCA c.271_273delinsTGG p.A91W Missense 3/18 - 1
7-140834840-TGC-GTT c.271_273delinsAAC p.A91N Missense 3/18 - 1
7-140834840-TG-GT c.272_273delinsAC p.A91D Missense 3/18 - 2
7-140834841-G-A c.272C>T p.A91V Missense 3/18 - 8
7-140834841-GC-TG c.271_272delinsCA p.A91Q Missense 3/18 - 2
7-140834841-GC-TT c.271_272delinsAA p.A91K Missense 3/18 - 1
7-140834841-G-T c.272C>A p.A91E Missense 3/18 - 4
7-140834842-C-A c.271G>T p.A91S Missense 3/18 - 4
7-140834842-C-T c.271G>A p.A91T Missense 3/18 - 3
7-140834844-T-A c.269A>T p.D90V Missense 3/18 - 1
7-140834844-T-G c.269A>C p.D90A Missense 3/18 - 2
7-140834845-C-A c.268G>T p.D90Y Missense 3/18 - 1
7-140834845-C-G c.268G>C p.D90H Missense 3/18 - 4
7-140834845-C-T c.268G>A p.D90N Missense 3/18 - 3
7-140834846-T-A c.267A>T p.L89= Synonymous 3/18 - 2
7-140834846-TAG-AAA c.265_267delinsTTT p.L89F Missense 3/18 - 2
7-140834846-T-C c.267A>G p.L89= Synonymous 3/18 - 4
7-140834846-T-G c.267A>C p.L89= Synonymous 3/18 - 1
7-140834848-G-A c.265C>T p.L89= Synonymous 3/18 - 2
7-140834847-A-T c.266T>A p.L89Q Missense 3/18 - 1
7-140834849-C-A c.264G>T p.K88N Missense 3/18 - 3
7-140834849-C-G c.264G>C p.K88N Missense 3/18 - 2
7-140834850-T-A c.263A>T p.K88M Missense 3/18 - 1
7-140834851-T-A c.262A>T p.K88* Nonsense 3/18 - 1
7-140834851-T-C c.262A>G p.K88E Missense 3/18 - 1
7-140834852-G-A c.261C>T p.S87= Synonymous 3/18 - 1
7-140834853-C-A c.260G>T p.S87I Missense 3/18 - 1
7-140834853-C-T c.260G>A p.S87N Missense 3/18 - 3
7-140834853-CT-AA c.259_260delinsTT p.S87F Missense 3/18 - 1
7-140834853-CT-GG c.259_260delinsCC p.S87P Missense 3/18 - 1
7-140834854-T-A c.259A>T p.S87C Missense 3/18 - 1
7-140834854-T-C c.259A>G p.S87G Missense 3/18 - 2
7-140834855-G-A c.258C>T p.T86= Synonymous 3/18 - 3
7-140834855-G-C c.258C>G p.T86= Synonymous 3/18 - 2
7-140834855-GG-CA c.257_258delinsTG p.T86M Missense 3/18 - 1
7-140834855-G-T c.258C>A p.T86= Synonymous 3/18 - 2
7-140834856-G-A c.257C>T p.T86I Missense 3/18 - 1
7-140834856-GT-CA c.256_257delinsTG p.T86C Missense 3/18 - 1
7-140834857-T-A c.256A>T p.T86S Missense 3/18 - 1
7-140834857-T-C c.256A>G p.T86A Missense 3/18 - 1
7-140834858-G-A c.255C>T p.Y85= Synonymous 3/18 - 1
7-140834858-G-C c.255C>G p.Y85* Nonsense 3/18 - 1
7-140834858-G-T c.255C>A p.Y85* Nonsense 3/18 - 1
7-140834859-T-A c.254A>T p.Y85F Missense 3/18 - 1
7-140834859-T-C c.254A>G p.Y85C Missense 3/18 - 1
7-140834861-T-C c.252A>G p.E84= Synonymous 3/18 - 1
7-140834861-TTC-ACA c.250_252delinsTGT p.E84C Missense 3/18 - 2
7-140834862-T-G c.251A>C p.E84A Missense 3/18 - 1
7-140834863-C-A c.250G>T p.E84* Nonsense 3/18 - 1
7-140834863-C-T c.250G>A p.E84K Missense 3/18 - 1
7-140834864-T-A c.249A>T p.E83D Missense 3/18 - 2
7-140834864-T-C c.249A>G p.E83= Synonymous 3/18 - 2
7-140834864-T-G c.249A>C p.E83D Missense 3/18 - 1
7-140834864-TTC-AAA c.247_249delinsTTT p.E83F Missense 3/18 - 1
7-140834864-TTC-ACA c.247_249delinsTGT p.E83C Missense 3/18 - 1
7-140834865-T-C c.248A>G p.E83G Missense 3/18 - 1
7-140834866-C-A c.247G>T p.E83* Nonsense 3/18 - 2
7-140834866-C-G c.247G>C p.E83Q Missense 3/18 - 1
7-140834867-A-C c.246T>G p.Y82* Nonsense 3/18 - 1
7-140834868-T-C c.245A>G p.Y82C Missense 3/18 - 2
7-140834869-A-G c.244T>C p.Y82H Missense 3/18 - 4
7-140834869-A-T c.244T>A p.Y82N Missense 3/18 - 2
7-140834870-G-A c.243C>T p.A81= Synonymous 3/18 - 1
7-140834870-G-C c.243C>G p.A81= Synonymous 3/18 - 1
7-140834870-GGC-CAT c.241_243delinsATG p.A81M Missense 3/18 - 1
7-140834870-GGC-CTT c.241_243delinsAAG p.A81K Missense 3/18 - 1
7-140834870-GG-CT c.242_243delinsAG p.A81E Missense 3/18 - 3
7-140834870-G-T c.243C>A p.A81= Synonymous 3/18 - 2
7-140834871-G-A c.242C>T p.A81V Missense 3/18 - 2
7-140834871-GC-AA c.241_242delinsTT p.A81F Missense 3/18 - 1
7-140834871-GC-CA c.241_242delinsTG p.A81C Missense 3/18 - 3
7-140834872-C-A c.241G>T p.A81S Missense 3/18 - 1
7-140834872-C-T c.241G>A p.A81T Missense 3/18 - 2
7-140835264-A-C c.241-392T>G - IntronicSNV - 2/17 1
7-140835264-A-G c.241-392T>C - IntronicSNV - 2/17 1
7-140835483-C-T c.241-611G>A - IntronicSNV - 2/17 1
7-140835964-A-C c.241-1092T>G - IntronicSNV - 2/17 1
7-140836521-G-GT c.241-1650_241-1649insA - IntronicInsertion - 2/17 1
7-140836744-T-G c.241-1872A>C - IntronicSNV - 2/17 1
7-140836939-A-C c.241-2067T>G - IntronicSNV - 2/17 2
7-140837857-T-C c.241-2985A>G - IntronicSNV - 2/17 1
7-140838208-C-G c.241-3336G>C - IntronicSNV - 2/17 1
7-140838208-C-T c.241-3336G>A - IntronicSNV - 2/17 1
7-140838327-C-T c.241-3455G>A - IntronicSNV - 2/17 1
7-140839191-T-C c.241-4319A>G - IntronicSNV - 2/17 2
7-140839292-T-C c.241-4420A>G - IntronicSNV - 2/17 1
7-140839427-C-T c.241-4555G>A - IntronicSNV - 2/17 1
7-140839636-G-A c.241-4764C>T - IntronicSNV - 2/17 1
7-140839865-A-G c.241-4993T>C - IntronicSNV - 2/17 1
7-140840158-T-C c.241-5286A>G - IntronicSNV - 2/17 1
7-140840160-T-A c.241-5288A>T - IntronicSNV - 2/17 1
7-140840172-T-C c.241-5300A>G - IntronicSNV - 2/17 1
7-140840241-A-G c.241-5369T>C - IntronicSNV - 2/17 1
7-140840296-T-C c.241-5424A>G - IntronicSNV - 2/17 1
7-140841510-T-A c.241-6638A>T - IntronicSNV - 2/17 1
7-140842909-G-A c.240+7202C>T - IntronicSNV - 2/17 1
7-140842909-G-C c.240+7202C>G - IntronicSNV - 2/17 1
7-140842917-G-A c.240+7194C>T - IntronicSNV - 2/17 1
7-140842959-G-A c.240+7152C>T - IntronicSNV - 2/17 1
7-140843329-C-T c.240+6782G>A - IntronicSNV - 2/17 1
7-140844245-TA-T c.240+5865del - IntronicDeletion - 2/17 1
7-140844365-T-C c.240+5746A>G - IntronicSNV - 2/17 4
7-140844507-C-A c.240+5604G>T - IntronicSNV - 2/17 1
7-140844604-C-T c.240+5507G>A - IntronicSNV - 2/17 1
7-140844647-T-C c.240+5464A>G - IntronicSNV - 2/17 1
7-140844779-A-G c.240+5332T>C - IntronicSNV - 2/17 1
7-140846011-A-G c.240+4100T>C - IntronicSNV - 2/17 1
7-140846011-A-T c.240+4100T>A - IntronicSNV - 2/17 1
7-140846165-C-T c.240+3946G>A - IntronicSNV - 2/17 1
7-140846699-A-T c.240+3412T>A - IntronicSNV - 2/17 1
7-140846893-C-T c.240+3218G>A - IntronicSNV - 2/17 1
7-140846901-A-G c.240+3210T>C - IntronicSNV - 2/17 1
7-140847309-A-G c.240+2802T>C - IntronicSNV - 2/17 1
7-140847356-G-A c.240+2755C>T - IntronicSNV - 2/17 1
7-140847584-A-G c.240+2527T>C - IntronicSNV - 2/17 1
7-140847584-A-T c.240+2527T>A - IntronicSNV - 2/17 1
7-140847587-A-G c.240+2524T>C - IntronicSNV - 2/17 1
7-140847865-T-C c.240+2246A>G - IntronicSNV - 2/17 1
7-140847986-A-C c.240+2125T>G - IntronicSNV - 2/17 2
7-140849637-C-G c.240+474G>C - IntronicSNV - 2/17 1
7-140849997-C-T c.240+114G>A - IntronicSNV - 2/17 1
7-140850039-T-C c.240+72A>G - IntronicSNV - 2/17 1
7-140850064-A-AT c.240+46dup - IntronicInsertion - 2/17 1
7-140850093-T-A c.240+18A>T - IntronicSNV - 2/17 1
7-140850108-T-C c.240+3A>G - IntronicSNV - 2/17 1
7-140850110-C-A c.240+1G>T - IntronicSNV - 2/17 1
7-140850110-C-T c.240+1G>A - IntronicSNV - 2/17 1
7-140850111-C-A c.240G>T p.E80D Missense 2/18 - 5
7-140850111-C-G c.240G>C p.E80D Missense 2/18 - 2
7-140850111-CTC-AAA c.238_240delinsTTT p.E80F Missense 2/18 - 1
7-140850112-T-C c.239A>G p.E80G Missense 2/18 - 3
7-140850112-T-G c.239A>C p.E80A Missense 2/18 - 1
7-140850113-C-A c.238G>T p.E80* Nonsense 2/18 - 1
7-140850113-C-G c.238G>C p.E80Q Missense 2/18 - 2
7-140850113-C-T c.238G>A p.E80K Missense 2/18 - 1
7-140850115-A-G c.236T>C p.L79P Missense 2/18 - 1
7-140850115-A-T c.236T>A p.L79Q Missense 2/18 - 1
7-140850116-G-C c.235C>G p.L79V Missense 2/18 - 2
7-140850116-G-T c.235C>A p.L79M Missense 2/18 - 2
7-140850117-A-C c.234T>G p.Y78* Nonsense 2/18 - 2
7-140850117-A-T c.234T>A p.Y78* Nonsense 2/18 - 2
7-140850118-T-A c.233A>T p.Y78F Missense 2/18 - 1
7-140850119-A-G c.232T>C p.Y78H Missense 2/18 - 1
7-140850120-T-C c.231A>G p.I77M Missense 2/18 - 1
7-140850122-T-A c.229A>T p.I77L Missense 2/18 - 2
7-140850122-T-C c.229A>G p.I77V Missense 2/18 - 1
7-140850124-G-A c.227C>T p.S76L Missense 2/18 - 3
7-140850124-G-C c.227C>G p.S76* Nonsense 2/18 - 2
7-140850124-G-T c.227C>A p.S76* Nonsense 2/18 - 3
7-140850125-A-C c.226T>G p.S76A Missense 2/18 - 1
7-140850125-A-G c.226T>C p.S76P Missense 2/18 - 5
7-140850125-A-T c.226T>A p.S76T Missense 2/18 - 1
7-140850127-G-A c.224C>T p.P75L Missense 2/18 - 8
7-140850127-G-C c.224C>G p.P75R Missense 2/18 - 1
7-140850127-G-T c.224C>A p.P75Q Missense 2/18 - 1
7-140850128-G-A c.223C>T p.P75S Missense 2/18 - 4
7-140850128-G-T c.223C>A p.P75T Missense 2/18 - 1
7-140850130-G-A c.221C>T p.P74L Missense 2/18 - 3
7-140850131-G-A c.220C>T p.P74S Missense 2/18 - 7
7-140850131-G-C c.220C>G p.P74A Missense 2/18 - 3
7-140850131-G-T c.220C>A p.P74T Missense 2/18 - 1
7-140850133-T-C c.218A>G p.N73S Missense 2/18 - 1
7-140850134-T-C c.217A>G p.N73D Missense 2/18 - 1
7-140850135-A-C c.216T>G p.H72Q Missense 2/18 - 1
7-140850135-A-T c.216T>A p.H72Q Missense 2/18 - 1
7-140850136-T-C c.215A>G p.H72R Missense 2/18 - 2
7-140850137-G-A c.214C>T p.H72Y Missense 2/18 - 1
7-140850138-C-A c.213G>T p.E71D Missense 2/18 - 2
7-140850138-C-G c.213G>C p.E71D Missense 2/18 - 1
7-140850138-C-T c.213G>A p.E71= Synonymous 2/18 - 1
7-140850139-T-C c.212A>G p.E71G Missense 2/18 - 2
7-140850140-C-A c.211G>T p.E71* Nonsense 2/18 - 1
7-140850140-C-G c.211G>C p.E71Q Missense 2/18 - 2
7-140850140-C-T c.211G>A p.E71K Missense 2/18 - 3
7-140850141-C-A c.210G>T p.G70= Synonymous 2/18 - 4
7-140850141-C-G c.210G>C p.G70= Synonymous 2/18 - 1
7-140850141-C-T c.210G>A p.G70= Synonymous 2/18 - 1
7-140850142-C-A c.209G>T p.G70V Missense 2/18 - 1
7-140850142-C-T c.209G>A p.G70E Missense 2/18 - 1
7-140850143-C-A c.208G>T p.G70W Missense 2/18 - 1
7-140850144-ACC-CCA c.205_207delinsTGG p.G69W Missense 2/18 - 1
7-140850144-A-T c.207T>A p.G69= Synonymous 2/18 - 1
7-140850141-CCCA-C c.207_209del p.G70del InFrameDeletion 2/18 - 1
7-140850145-C-A c.206G>T p.G69V Missense 2/18 - 2
7-140850145-C-G c.206G>C p.G69A Missense 2/18 - 1
7-140850146-C-A c.205G>T p.G69C Missense 2/18 - 3
7-140850146-C-T c.205G>A p.G69S Missense 2/18 - 4
7-140850147-AA-TT c.203_204inv p.F68* Nonsense 2/18 - 1
7-140850148-A-C c.203T>G p.F68C Missense 2/18 - 2
7-140850150-ATTT-A c.199_201del p.K67del InFrameDeletion 2/18 - 1
7-140850150-T-A c.201A>T p.K67N Missense 2/18 - 1
7-140850150-T-G c.201A>C p.K67N Missense 2/18 - 1
7-140850153-G-C c.198C>G p.D66E Missense 2/18 - 2
7-140850153-G-T c.198C>A p.D66E Missense 2/18 - 3
7-140850154-T-A c.197A>T p.D66V Missense 2/18 - 1
7-140850154-T-C c.197A>G p.D66G Missense 2/18 - 1
7-140850154-T-G c.197A>C p.D66A Missense 2/18 - 1
7-140850155-C-A c.196G>T p.D66Y Missense 2/18 - 1
7-140850156-C-A c.195G>T p.L65F Missense 2/18 - 1
7-140850157-AA-GG c.193_194delinsCC p.L65P Missense 2/18 - 1
7-140850157-A-G c.194T>C p.L65S Missense 2/18 - 1
7-140850158-A-G c.193T>C p.L65= Synonymous 2/18 - 2
7-140850158-A-T c.193T>A p.L65M Missense 2/18 - 1
7-140850159-T-A c.192A>T p.L64= Synonymous 2/18 - 1
7-140850159-T-C c.192A>G p.L64= Synonymous 2/18 - 1
7-140850159-T-G c.192A>C p.L64= Synonymous 2/18 - 1
7-140850161-G-A c.190C>T p.L64= Synonymous 2/18 - 3
7-140850160-A-G c.191T>C p.L64P Missense 2/18 - 2
7-140850161-G-T c.190C>A p.L64I Missense 2/18 - 11
7-140850162-G-A c.189C>T p.A63= Synonymous 2/18 - 1
7-140850162-G-C c.189C>G p.A63= Synonymous 2/18 - 1
7-140850162-GGC-CCA c.187_189delinsTGG p.A63W Missense 2/18 - 1
7-140850162-GG-CT c.188_189delinsAG p.A63E Missense 2/18 - 1
7-140850162-G-T c.189C>A p.A63= Synonymous 2/18 - 1
7-140850163-G-A c.188C>T p.A63V Missense 2/18 - 5
7-140850163-G-C c.188C>G p.A63G Missense 2/18 - 1
7-140850163-GC-AA c.187_188delinsTT p.A63F Missense 2/18 - 1
7-140850163-GC-TA c.187_188delinsTA p.A63Y Missense 2/18 - 3
7-140850163-G-T c.188C>A p.A63D Missense 2/18 - 3
7-140850164-C-A c.187G>T p.A63S Missense 2/18 - 1
7-140850164-C-G c.187G>C p.A63P Missense 2/18 - 2
7-140850164-C-T c.187G>A p.A63T Missense 2/18 - 1
7-140850163-GCCT-G c.185_187del p.E62del InFrameDeletion 2/18 - 2
7-140850165-C-A c.186G>T p.E62D Missense 2/18 - 6
7-140850165-CCTCTATATGTTCCTG-C c.172_186del p.Q58_E62del InFrameDeletion 2/18 - 1
7-140850165-C-G c.186G>C p.E62D Missense 2/18 - 3
7-140850165-CTC-ACA c.184_186delinsTGT p.E62C Missense 2/18 - 1
7-140850166-T-A c.185A>T p.E62V Missense 2/18 - 1
7-140850166-T-C c.185A>G p.E62G Missense 2/18 - 2
7-140850167-C-A c.184G>T p.E62* Nonsense 2/18 - 4
7-140850167-C-G c.184G>C p.E62Q Missense 2/18 - 1
7-140850167-C-T c.184G>A p.E62K Missense 2/18 - 2
7-140850168-T-A c.183A>T p.I61= Synonymous 2/18 - 15
7-140850168-T-G c.183A>C p.I61= Synonymous 2/18 - 9
7-140850169-A-G c.182T>C p.I61T Missense 2/18 - 2
7-140850169-A-T c.182T>A p.I61K Missense 2/18 - 3
7-140850169-AT-GC c.181_182delinsGC p.I61A Missense 2/18 - 1
7-140850169-TATA-T c.180_182del p.H60_I61delinsQ MultiAAMissense 2/18 - 1
7-140850170-T-A c.181A>T p.I61L Missense 2/18 - 1
7-140850170-T-C c.181A>G p.I61V Missense 2/18 - 3
7-140850170-T-G c.181A>C p.I61L Missense 2/18 - 1
7-140850171-A-G c.180T>C p.H60= Synonymous 2/18 - 1
7-140850172-T-A c.179A>T p.H60L Missense 2/18 - 1
7-140850172-T-C c.179A>G p.H60R Missense 2/18 - 1
7-140850172-TG-CA c.178_179inv p.H60C Missense 2/18 - 1
7-140850172-TG-GC c.178_179delinsGC p.H60A Missense 2/18 - 2
7-140850173-G-T c.178C>A p.H60N Missense 2/18 - 2
7-140850174-T-C c.177A>G p.E59= Synonymous 2/18 - 1
7-140850174-TTC-ACA c.175_177delinsTGT p.E59C Missense 2/18 - 1
7-140850174-TTC-GTT c.175_177delinsAAC p.E59N Missense 2/18 - 1
7-140850175-TC-AT c.175_176delinsAT p.E59I Missense 2/18 - 1
7-140850175-TC-GT c.175_176delinsAC p.E59T Missense 2/18 - 1
7-140850176-C-A c.175G>T p.E59* Nonsense 2/18 - 2
7-140850176-C-T c.175G>A p.E59K Missense 2/18 - 4
7-140850177-C-A c.174G>T p.Q58H Missense 2/18 - 1
7-140850177-C-G c.174G>C p.Q58H Missense 2/18 - 1
7-140850177-C-T c.174G>A p.Q58= Synonymous 2/18 - 1
7-140850178-T-A c.173A>T p.Q58L Missense 2/18 - 10
7-140850178-T-C c.173A>G p.Q58R Missense 2/18 - 1
7-140850178-T-G c.173A>C p.Q58P Missense 2/18 - 2
7-140850179-G-A c.172C>T p.Q58* Nonsense 2/18 - 3
7-140850179-G-T c.172C>A p.Q58K Missense 2/18 - 2
7-140850181-G-A c.170C>T p.T57I Missense 2/18 - 3
7-140850181-G-C c.170C>G p.T57R Missense 2/18 - 1
7-140850181-G-GT c.169dup p.T57Nfs*17 Frameshift 2/18 - 1
7-140850182-T-A c.169A>T p.T57S Missense 2/18 - 2
7-140850182-T-C c.169A>G p.T57A Missense 2/18 - 1
7-140850182-T-G c.169A>C p.T57P Missense 2/18 - 1
7-140850183-C-A c.168G>T p.L56F Missense 2/18 - 1
7-140850183-C-T c.168G>A p.L56= Synonymous 2/18 - 2
7-140850184-AA-GG c.166_167delinsCC p.L56P Missense 2/18 - 1
7-140850184-A-T c.167T>A p.L56* Nonsense 2/18 - 1
7-140850185-A-T c.166T>A p.L56M Missense 2/18 - 1
7-140850186-C-T c.165G>A p.K55= Synonymous 2/18 - 1
7-140850186-CT-GA c.164_165delinsTC p.K55I Missense 2/18 - 1
7-140850186-CT-C c.164del p.K55Sfs*2 Frameshift 2/18 - 1
7-140850188-T-A c.163A>T p.K55* Nonsense 2/18 - 1
7-140850188-T-C c.163A>G p.K55E Missense 2/18 - 1
7-140850188-T-G c.163A>C p.K55Q Missense 2/18 - 2
7-140850189-AA-CT c.161_162delinsAG p.I54K Missense 2/18 - 1
7-140850189-AAT-CTC c.160_162delinsGAG p.I54E Missense 2/18 - 1
7-140850189-AAT-TTG c.160_162delinsCAA p.I54Q Missense 2/18 - 1
7-140850190-A-C c.161T>G p.I54S Missense 2/18 - 1
7-140850190-A-G c.161T>C p.I54T Missense 2/18 - 1
7-140850190-A-T c.161T>A p.I54N Missense 2/18 - 1
7-140850190-AT-CC c.160_161delinsGG p.I54G Missense 2/18 - 1
7-140850190-AT-GG c.160_161delinsCC p.I54P Missense 2/18 - 1
7-140850190-AT-TA c.160_161delinsTA p.I54Y Missense 2/18 - 1
7-140850190-AT-TC c.160_161delinsGA p.I54D Missense 2/18 - 1
7-140850190-AT-TG c.160_161delinsCA p.I54H Missense 2/18 - 1
7-140850191-T-C c.160A>G p.I54V Missense 2/18 - 1
7-140850192-C-A c.159G>T p.M53I Missense 2/18 - 2
7-140850192-CAT-GTC c.157_159delinsGAC p.M53D Missense 2/18 - 1
7-140850192-C-G c.159G>C p.M53I Missense 2/18 - 2
7-140850192-C-T c.159G>A p.M53I Missense 2/18 - 1
7-140850193-A-G c.158T>C p.M53T Missense 2/18 - 1
7-140850195-T-C c.156A>G p.Q52= Synonymous 2/18 - 1
7-140850197-G-A c.154C>T p.Q52* Nonsense 2/18 - 2
7-140850197-G-T c.154C>A p.Q52K Missense 2/18 - 1
7-140850198-T-A c.153A>T p.K51N Missense 2/18 - 1
7-140850198-T-C c.153A>G p.K51= Synonymous 2/18 - 1
7-140850198-T-G c.153A>C p.K51N Missense 2/18 - 1
7-140850199-T-C c.152A>G p.K51R Missense 2/18 - 1
7-140850199-TT-GC c.151_152delinsGC p.K51A Missense 2/18 - 3
7-140850200-T-C c.151A>G p.K51E Missense 2/18 - 2
7-140850201-G-A c.150C>T p.I50= Synonymous 2/18 - 6
7-140850201-G-T c.150C>A p.I50= Synonymous 2/18 - 5
7-140850204-A-G c.147T>C p.N49= Synonymous 2/18 - 1
7-140850204-A-T c.147T>A p.N49K Missense 2/18 - 1
7-140850205-T-A c.146A>T p.N49I Missense 2/18 - 7
7-140850205-T-C c.146A>G p.N49S Missense 2/18 - 1
7-140850207-C-A c.144G>T p.W48C Missense 2/18 - 1
7-140850207-C-G c.144G>C p.W48C Missense 2/18 - 1
7-140850207-C-T c.144G>A p.W48* Nonsense 2/18 - 6
7-140850208-C-A c.143G>T p.W48L Missense 2/18 - 1
7-140850208-C-T c.143G>A p.W48* Nonsense 2/18 - 3
7-140850209-A-G c.142T>C p.W48R Missense 2/18 - 1
7-140850210-C-A c.141G>T p.V47= Synonymous 2/18 - 1
7-140850210-CAC-AAA c.139_141delinsTTT p.V47F Missense 2/18 - 1
7-140850210-C-T c.141G>A p.V47= Synonymous 2/18 - 1
7-140850211-A-C c.140T>G p.V47G Missense 2/18 - 1
7-140850211-A-G c.140T>C p.V47A Missense 2/18 - 1
7-140850212-C-A c.139G>T p.V47L Missense 2/18 - 2
7-140850212-C-G c.139G>C p.V47L Missense 2/18 - 1
7-140850212-C-T c.139G>A p.V47M Missense 2/18 - 2
7-140851272-G-A c.139-1060C>T - IntronicSNV - 1/17 1
7-140852286-C-T c.139-2074G>A - IntronicSNV - 1/17 1
7-140852376-A-C c.139-2164T>G - IntronicSNV - 1/17 1
7-140852376-A-G c.139-2164T>C - IntronicSNV - 1/17 1
7-140852651-C-CA c.139-2440dup - IntronicInsertion - 1/17 1
7-140853180-G-A c.139-2968C>T - IntronicSNV - 1/17 1
7-140853180-G-C c.139-2968C>G - IntronicSNV - 1/17 1
7-140853180-G-T c.139-2968C>A - IntronicSNV - 1/17 1
7-140853316-G-A c.139-3104C>T - IntronicSNV - 1/17 1
7-140853334-G-A c.139-3122C>T - IntronicSNV - 1/17 1
7-140853358-T-G c.139-3146A>C - IntronicSNV - 1/17 1
7-140853966-A-G c.139-3754T>C - IntronicSNV - 1/17 1
7-140853966-A-T c.139-3754T>A - IntronicSNV - 1/17 1
7-140854560-T-C c.139-4348A>G - IntronicSNV - 1/17 1
7-140856367-C-T c.139-6155G>A - IntronicSNV - 1/17 3
7-140856507-C-T c.139-6295G>A - IntronicSNV - 1/17 1
7-140856757-C-A c.139-6545G>T - IntronicSNV - 1/17 3
7-140857338-T-C c.139-7126A>G - IntronicSNV - 1/17 1
7-140857412-G-A c.139-7200C>T - IntronicSNV - 1/17 1
7-140857554-G-A c.139-7342C>T - IntronicSNV - 1/17 1
7-140858427-T-G c.139-8215A>C - IntronicSNV - 1/17 1
7-140858940-G-C c.139-8728C>G - IntronicSNV - 1/17 3
7-140859269-C-A c.139-9057G>T - IntronicSNV - 1/17 1
7-140859524-T-C c.139-9312A>G - IntronicSNV - 1/17 1
7-140860002-T-C c.139-9790A>G - IntronicSNV - 1/17 1
7-140860218-C-T c.139-10006G>A - IntronicSNV - 1/17 2
7-140860223-T-A c.139-10011A>T - IntronicSNV - 1/17 2
7-140860223-T-C c.139-10011A>G - IntronicSNV - 1/17 2
7-140860507-C-G c.139-10295G>C - IntronicSNV - 1/17 1
7-140860507-C-T c.139-10295G>A - IntronicSNV - 1/17 1
7-140861022-A-C c.139-10810T>G - IntronicSNV - 1/17 1
7-140861435-T-C c.139-11223A>G - IntronicSNV - 1/17 1
7-140861486-G-A c.139-11274C>T - IntronicSNV - 1/17 1
7-140861486-G-T c.139-11274C>A - IntronicSNV - 1/17 1
7-140863143-G-A c.139-12931C>T - IntronicSNV - 1/17 1
7-140863716-T-C c.139-13504A>G - IntronicSNV - 1/17 1
7-140863972-G-A c.139-13760C>T - IntronicSNV - 1/17 1
7-140864101-C-A c.139-13889G>T - IntronicSNV - 1/17 1
7-140864101-C-T c.139-13889G>A - IntronicSNV - 1/17 1
7-140865418-T-C c.139-15206A>G - IntronicSNV - 1/17 1
7-140866346-T-C c.139-16134A>G - IntronicSNV - 1/17 1
7-140866443-G-A c.139-16231C>T - IntronicSNV - 1/17 1
7-140867652-G-A c.139-17440C>T - IntronicSNV - 1/17 1
7-140869352-A-G c.139-19140T>C - IntronicSNV - 1/17 1
7-140869869-G-C c.139-19657C>G - IntronicSNV - 1/17 1
7-140869876-A-G c.139-19664T>C - IntronicSNV - 1/17 1
7-140870345-C-T c.139-20133G>A - IntronicSNV - 1/17 1
7-140871024-G-A c.139-20812C>T - IntronicSNV - 1/17 1
7-140871546-G-A c.139-21334C>T - IntronicSNV - 1/17 1
7-140871592-G-C c.139-21380C>G - IntronicSNV - 1/17 1
7-140872278-T-C c.139-22066A>G - IntronicSNV - 1/17 1
7-140872310-A-C c.139-22098T>G - IntronicSNV - 1/17 1
7-140872310-A-G c.139-22098T>C - IntronicSNV - 1/17 1
7-140872383-T-A c.139-22171A>T - IntronicSNV - 1/17 1
7-140872745-T-C c.139-22533A>G - IntronicSNV - 1/17 1
7-140872816-T-C c.139-22604A>G - IntronicSNV - 1/17 1
7-140873397-A-C c.139-23185T>G - IntronicSNV - 1/17 1
7-140873397-A-T c.139-23185T>A - IntronicSNV - 1/17 1
7-140873582-A-T c.139-23370T>A - IntronicSNV - 1/17 1
7-140873685-C-T c.139-23473G>A - IntronicSNV - 1/17 1
7-140873695-G-A c.139-23483C>T - IntronicSNV - 1/17 1
7-140874098-A-T c.139-23886T>A - IntronicSNV - 1/17 1
7-140874735-T-C c.139-24523A>G - IntronicSNV - 1/17 1
7-140875122-C-A c.139-24910G>T - IntronicSNV - 1/17 1
7-140875568-G-A c.139-25356C>T - IntronicSNV - 1/17 1
7-140875568-G-C c.139-25356C>G - IntronicSNV - 1/17 1
7-140876349-A-G c.139-26137T>C - IntronicSNV - 1/17 2
7-140876800-A-AT c.139-26589dup - IntronicInsertion - 1/17 1
7-140878270-C-A c.139-28058G>T - IntronicSNV - 1/17 1
7-140878808-A-G c.139-28596T>C - IntronicSNV - 1/17 1
7-140879293-T-G c.139-29081A>C - IntronicSNV - 1/17 1
7-140879683-C-T c.139-29471G>A - IntronicSNV - 1/17 1
7-140879738-T-C c.139-29526A>G - IntronicSNV - 1/17 1
7-140880025-C-A c.139-29813G>T - IntronicSNV - 1/17 1
7-140880076-C-T c.139-29864G>A - IntronicSNV - 1/17 1
7-140880442-G-GA c.139-30231dup - IntronicInsertion - 1/17 1
7-140882566-T-C c.139-32354A>G - IntronicSNV - 1/17 1
7-140882823-C-T c.139-32611G>A - IntronicSNV - 1/17 1
7-140883054-C-T c.139-32842G>A - IntronicSNV - 1/17 1
7-140883297-A-G c.139-33085T>C - IntronicSNV - 1/17 1
7-140883783-C-T c.139-33571G>A - IntronicSNV - 1/17 1
7-140884208-A-T c.139-33996T>A - IntronicSNV - 1/17 1
7-140884217-A-T c.139-34005T>A - IntronicSNV - 1/17 1
7-140884462-T-C c.139-34250A>G - IntronicSNV - 1/17 1
7-140884462-T-G c.139-34250A>C - IntronicSNV - 1/17 1
7-140884638-T-C c.139-34426A>G - IntronicSNV - 1/17 1
7-140884641-G-A c.139-34429C>T - IntronicSNV - 1/17 1
7-140884678-G-C c.139-34466C>G - IntronicSNV - 1/17 1
7-140885326-A-T c.139-35114T>A - IntronicSNV - 1/17 1
7-140885327-T-A c.139-35115A>T - IntronicSNV - 1/17 1
7-140885327-T-G c.139-35115A>C - IntronicSNV - 1/17 1
7-140886071-A-C c.139-35859T>G - IntronicSNV - 1/17 1
7-140886071-A-G c.139-35859T>C - IntronicSNV - 1/17 1
7-140886761-C-T c.139-36549G>A - IntronicSNV - 1/17 1
7-140887095-C-T c.139-36883G>A - IntronicSNV - 1/17 1
7-140887099-C-G c.139-36887G>C - IntronicSNV - 1/17 1
7-140887127-T-C c.139-36915A>G - IntronicSNV - 1/17 1
7-140887369-C-T c.139-37157G>A - IntronicSNV - 1/17 1
7-140887833-C-T c.138+36733G>A - IntronicSNV - 1/17 1
7-140888114-C-A c.138+36452G>T - IntronicSNV - 1/17 1
7-140888162-T-C c.138+36404A>G - IntronicSNV - 1/17 1
7-140888584-A-C c.138+35982T>G - IntronicSNV - 1/17 1
7-140888805-A-G c.138+35761T>C - IntronicSNV - 1/17 1
7-140889408-C-T c.138+35158G>A - IntronicSNV - 1/17 1
7-140889439-A-C c.138+35127T>G - IntronicSNV - 1/17 1
7-140889767-C-A c.138+34799G>T - IntronicSNV - 1/17 1
7-140889860-G-A c.138+34706C>T - IntronicSNV - 1/17 1
7-140890491-AT-A c.138+34074del - IntronicDeletion - 1/17 1
7-140891487-C-T c.138+33079G>A - IntronicSNV - 1/17 1
7-140891768-T-A c.138+32798A>T - IntronicSNV - 1/17 1
7-140892237-G-C c.138+32329C>G - IntronicSNV - 1/17 1
7-140892352-A-G c.138+32214T>C - IntronicSNV - 1/17 1
7-140892352-A-T c.138+32214T>A - IntronicSNV - 1/17 1
7-140892427-T-C c.138+32139A>G - IntronicSNV - 1/17 2
7-140892427-T-G c.138+32139A>C - IntronicSNV - 1/17 2
7-140892457-A-G c.138+32109T>C - IntronicSNV - 1/17 1
7-140892659-G-C c.138+31907C>G - IntronicSNV - 1/17 1
7-140893800-T-C c.138+30766A>G - IntronicSNV - 1/17 1
7-140894289-A-C c.138+30277T>G - IntronicSNV - 1/17 1
7-140895216-A-G c.138+29350T>C - IntronicSNV - 1/17 1
7-140896169-T-TGG c.138+28395_138+28396dup - IntronicInsertion - 1/17 1
7-140896177-G-A c.138+28389C>T - IntronicSNV - 1/17 1
7-140896554-T-C c.138+28012A>G - IntronicSNV - 1/17 1
7-140896557-T-C c.138+28009A>G - IntronicSNV - 1/17 1
7-140897101-T-C c.138+27465A>G - IntronicSNV - 1/17 1
7-140897429-C-A c.138+27137G>T - IntronicSNV - 1/17 1
7-140897527-T-C c.138+27039A>G - IntronicSNV - 1/17 1
7-140897639-C-T c.138+26927G>A - IntronicSNV - 1/17 1
7-140897651-C-G c.138+26915G>C - IntronicSNV - 1/17 1
7-140897651-C-T c.138+26915G>A - IntronicSNV - 1/17 1
7-140897716-G-C c.138+26850C>G - IntronicSNV - 1/17 1
7-140897716-G-T c.138+26850C>A - IntronicSNV - 1/17 1
7-140897768-G-A c.138+26798C>T - IntronicSNV - 1/17 1
7-140897976-A-G c.138+26590T>C - IntronicSNV - 1/17 1
7-140898224-A-G c.138+26342T>C - IntronicSNV - 1/17 1
7-140898612-T-A c.138+25954A>T - IntronicSNV - 1/17 1
7-140900334-T-C c.138+24232A>G - IntronicSNV - 1/17 1
7-140901197-T-C c.138+23369A>G - IntronicSNV - 1/17 1
7-140901239-T-C c.138+23327A>G - IntronicSNV - 1/17 1
7-140901267-C-T c.138+23299G>A - IntronicSNV - 1/17 1
7-140901638-G-C c.138+22928C>G - IntronicSNV - 1/17 1
7-140901638-G-T c.138+22928C>A - IntronicSNV - 1/17 1
7-140901647-C-A c.138+22919G>T - IntronicSNV - 1/17 1
7-140902043-C-T c.138+22523G>A - IntronicSNV - 1/17 1
7-140902047-T-C c.138+22519A>G - IntronicSNV - 1/17 1
7-140902259-C-T c.138+22307G>A - IntronicSNV - 1/17 1
7-140902260-G-A c.138+22306C>T - IntronicSNV - 1/17 1
7-140902293-G-A c.138+22273C>T - IntronicSNV - 1/17 1
7-140902578-G-A c.138+21988C>T - IntronicSNV - 1/17 1
7-140902799-C-A c.138+21767G>T - IntronicSNV - 1/17 1
7-140903529-G-T c.138+21037C>A - IntronicSNV - 1/17 1
7-140903575-C-T c.138+20991G>A - IntronicSNV - 1/17 1
7-140903852-A-G c.138+20714T>C - IntronicSNV - 1/17 1
7-140904196-T-C c.138+20370A>G - IntronicSNV - 1/17 1
7-140904241-T-C c.138+20325A>G - IntronicSNV - 1/17 1
7-140904241-T-G c.138+20325A>C - IntronicSNV - 1/17 1
7-140904297-C-G c.138+20269G>C - IntronicSNV - 1/17 1
7-140904754-A-G c.138+19812T>C - IntronicSNV - 1/17 1
7-140904754-A-T c.138+19812T>A - IntronicSNV - 1/17 1
7-140904860-G-A c.138+19706C>T - IntronicSNV - 1/17 1
7-140904945-C-CAT c.138+19619_138+19620dup - IntronicInsertion - 1/17 1
7-140905073-T-C c.138+19493A>G - IntronicSNV - 1/17 1
7-140905267-C-T c.138+19299G>A - IntronicSNV - 1/17 1
7-140906887-T-C c.138+17679A>G - IntronicSNV - 1/17 1
7-140907125-A-G c.138+17441T>C - IntronicSNV - 1/17 1
7-140907250-A-C c.138+17316T>G - IntronicSNV - 1/17 1
7-140907325-G-A c.138+17241C>T - IntronicSNV - 1/17 1
7-140907325-G-C c.138+17241C>G - IntronicSNV - 1/17 1
7-140907496-C-T c.138+17070G>A - IntronicSNV - 1/17 1
7-140907507-G-A c.138+17059C>T - IntronicSNV - 1/17 1
7-140907507-G-C c.138+17059C>G - IntronicSNV - 1/17 1
7-140907507-G-T c.138+17059C>A - IntronicSNV - 1/17 1
7-140907508-G-A c.138+17058C>T - IntronicSNV - 1/17 1
7-140907841-T-G c.138+16725A>C - IntronicSNV - 1/17 1
7-140908431-T-A c.138+16135A>T - IntronicSNV - 1/17 1
7-140908676-C-A c.138+15890G>T - IntronicSNV - 1/17 1
7-140908994-T-C c.138+15572A>G - IntronicSNV - 1/17 2
7-140909413-C-A c.138+15153G>T - IntronicSNV - 1/17 1
7-140909413-C-T c.138+15153G>A - IntronicSNV - 1/17 1
7-140909803-G-A c.138+14763C>T - IntronicSNV - 1/17 1
7-140909842-C-A c.138+14724G>T - IntronicSNV - 1/17 1
7-140909845-C-A c.138+14721G>T - IntronicSNV - 1/17 1
7-140909890-C-G c.138+14676G>C - IntronicSNV - 1/17 1
7-140909890-C-T c.138+14676G>A - IntronicSNV - 1/17 1
7-140909896-T-C c.138+14670A>G - IntronicSNV - 1/17 1
7-140910295-T-A c.138+14271A>T - IntronicSNV - 1/17 1
7-140910473-T-C c.138+14093A>G - IntronicSNV - 1/17 1
7-140910681-CT-C c.138+13884del - IntronicDeletion - 1/17 1
7-140910797-C-T c.138+13769G>A - IntronicSNV - 1/17 2
7-140911155-T-C c.138+13411A>G - IntronicSNV - 1/17 1
7-140911896-T-G c.138+12670A>C - IntronicSNV - 1/17 1
7-140912045-C-T c.138+12521G>A - IntronicSNV - 1/17 1
7-140912363-A-G c.138+12203T>C - IntronicSNV - 1/17 6
7-140912363-A-T c.138+12203T>A - IntronicSNV - 1/17 6
7-140913024-T-C c.138+11542A>G - IntronicSNV - 1/17 1
7-140914119-C-T c.138+10447G>A - IntronicSNV - 1/17 1
7-140914152-G-T c.138+10414C>A - IntronicSNV - 1/17 1
7-140914412-A-G c.138+10154T>C - IntronicSNV - 1/17 2
7-140914412-A-T c.138+10154T>A - IntronicSNV - 1/17 2
7-140914587-A-T c.138+9979T>A - IntronicSNV - 1/17 2
7-140914777-T-C c.138+9789A>G - IntronicSNV - 1/17 1
7-140914855-T-C c.138+9711A>G - IntronicSNV - 1/17 1
7-140914855-T-G c.138+9711A>C - IntronicSNV - 1/17 1
7-140915030-T-A c.138+9536A>T - IntronicSNV - 1/17 2
7-140915030-T-C c.138+9536A>G - IntronicSNV - 1/17 2
7-140915121-C-A c.138+9445G>T - IntronicSNV - 1/17 1
7-140915406-C-A c.138+9160G>T - IntronicSNV - 1/17 1
7-140916166-C-T c.138+8400G>A - IntronicSNV - 1/17 1
7-140916260-G-C c.138+8306C>G - IntronicSNV - 1/17 1
7-140916283-A-G c.138+8283T>C - IntronicSNV - 1/17 1
7-140916317-T-C c.138+8249A>G - IntronicSNV - 1/17 1
7-140916748-C-T c.138+7818G>A - IntronicSNV - 1/17 1
7-140916876-A-G c.138+7690T>C - IntronicSNV - 1/17 1
7-140917842-T-C c.138+6724A>G - IntronicSNV - 1/17 1
7-140917965-G-A c.138+6601C>T - IntronicSNV - 1/17 1
7-140918129-A-C c.138+6437T>G - IntronicSNV - 1/17 1
7-140918129-A-G c.138+6437T>C - IntronicSNV - 1/17 1
7-140918213-G-A c.138+6353C>T - IntronicSNV - 1/17 1
7-140918680-A-T c.138+5886T>A - IntronicSNV - 1/17 1
7-140918875-C-T c.138+5691G>A - IntronicSNV - 1/17 1
7-140918906-G-A c.138+5660C>T - IntronicSNV - 1/17 1
7-140918912-G-T c.138+5654C>A - IntronicSNV - 1/17 1
7-140918978-A-C c.138+5588T>G - IntronicSNV - 1/17 1
7-140919277-C-G c.138+5289G>C - IntronicSNV - 1/17 1
7-140919277-C-T c.138+5289G>A - IntronicSNV - 1/17 1
7-140919407-G-A c.138+5159C>T - IntronicSNV - 1/17 1
7-140919517-A-C c.138+5049T>G - IntronicSNV - 1/17 1
7-140919517-A-G c.138+5049T>C - IntronicSNV - 1/17 1
7-140919517-A-T c.138+5049T>A - IntronicSNV - 1/17 1
7-140919610-G-T c.138+4956C>A - IntronicSNV - 1/17 1
7-140919688-C-G c.138+4878G>C - IntronicSNV - 1/17 1
7-140919688-C-T c.138+4878G>A - IntronicSNV - 1/17 1
7-140919841-G-T c.138+4725C>A - IntronicSNV - 1/17 1
7-140919857-G-T c.138+4709C>A - IntronicSNV - 1/17 1
7-140920191-A-T c.138+4375T>A - IntronicSNV - 1/17 1
7-140921520-A-C c.138+3046T>G - IntronicSNV - 1/17 1
7-140921520-A-G c.138+3046T>C - IntronicSNV - 1/17 1
7-140921605-A-G c.138+2961T>C - IntronicSNV - 1/17 1
7-140922555-T-C c.138+2011A>G - IntronicSNV - 1/17 1
7-140922562-T-C c.138+2004A>G - IntronicSNV - 1/17 1
7-140922620-A-G c.138+1946T>C - IntronicSNV - 1/17 1
7-140922721-A-G c.138+1845T>C - IntronicSNV - 1/17 1
7-140923252-T-C c.138+1314A>G - IntronicSNV - 1/17 1
7-140923278-CAA-C c.138+1286_138+1287del - IntronicDeletion - 1/17 1
7-140923486-G-A c.138+1080C>T - IntronicSNV - 1/17 1
7-140923912-G-C c.138+654C>G - IntronicSNV - 1/17 1
7-140923912-G-T c.138+654C>A - IntronicSNV - 1/17 1
7-140924340-G-C c.138+226C>G - IntronicSNV - 1/17 1
7-140924509-AC-A c.138+56del - IntronicDeletion - 1/17 1
7-140924530-G-C c.138+36C>G - IntronicSNV - 1/17 1
7-140924556-C-A c.138+10G>T - IntronicSNV - 1/17 1
7-140924565-C-A c.138+1G>T - IntronicSNV - 1/17 2
7-140924565-C-T c.138+1G>A - IntronicSNV - 1/17 2
7-140924566-C-A c.138G>T p.E46D Missense 1/18 - 3
7-140924566-C-G c.138G>C p.E46D Missense 1/18 - 2
7-140924566-C-T c.138G>A p.E46= Synonymous 1/18 - 1
7-140924566-CTC-AAA c.136_138delinsTTT p.E46F Missense 1/18 - 1
7-140924568-C-T c.136G>A p.E46K Missense 1/18 - 4
7-140924569-C-A c.135G>T p.E45D Missense 1/18 - 3
7-140924569-C-G c.135G>C p.E45D Missense 1/18 - 3
7-140924569-C-T c.135G>A p.E45= Synonymous 1/18 - 2
7-140924570-T-A c.134A>T p.E45V Missense 1/18 - 1
7-140924570-T-C c.134A>G p.E45G Missense 1/18 - 1
7-140924571-C-A c.133G>T p.E45* Nonsense 1/18 - 1
7-140924571-C-T c.133G>A p.E45K Missense 1/18 - 2
7-140924572-C-A c.132G>T p.P44= Synonymous 1/18 - 2
7-140924572-CG-AT c.131_132delinsAT p.P44H Missense 1/18 - 1
7-140924572-C-T c.132G>A p.P44= Synonymous 1/18 - 1
7-140924573-G-A c.131C>T p.P44L Missense 1/18 - 10
7-140924573-G-T c.131C>A p.P44Q Missense 1/18 - 1
7-140924574-G-A c.130C>T p.P44S Missense 1/18 - 3
7-140924574-G-C c.130C>G p.P44A Missense 1/18 - 1
7-140924574-G-T c.130C>A p.P44T Missense 1/18 - 1
7-140924578-G-A c.126C>T p.A42= Synonymous 1/18 - 3
7-140924578-G-C c.126C>G p.A42= Synonymous 1/18 - 3
7-140924578-GGC-CCA c.124_126delinsTGG p.A42W Missense 1/18 - 2
7-140924578-GGC-CTT c.124_126delinsAAG p.A42K Missense 1/18 - 12
7-140924578-GG-CT c.125_126delinsAG p.A42E Missense 1/18 - 5
7-140924578-GGC-TTA c.124_126delinsTAA p.A42* Nonsense 1/18 - 2
7-140924578-GGC-TTG c.124_126delinsCAA p.A42Q Missense 1/18 - 1
7-140924578-G-T c.126C>A p.A42= Synonymous 1/18 - 3
7-140924579-G-A c.125C>T p.A42V Missense 1/18 - 2
7-140924579-GC-AA c.124_125delinsTT p.A42F Missense 1/18 - 2
7-140924579-GC-AG c.124_125delinsCT p.A42L Missense 1/18 - 13
7-140924579-GC-CA c.124_125delinsTG p.A42C Missense 1/18 - 3
7-140924579-GC-CG c.124_125delinsCG p.A42R Missense 1/18 - 2
7-140924579-GC-TA c.124_125delinsTA p.A42Y Missense 1/18 - 10
7-140924579-GC-TG c.124_125delinsCA p.A42H Missense 1/18 - 8
7-140924579-G-T c.125C>A p.A42D Missense 1/18 - 3
7-140924580-C-A c.124G>T p.A42S Missense 1/18 - 10
7-140924580-C-T c.124G>A p.A42T Missense 1/18 - 4
7-140924581-A-T c.123T>A p.P41= Synonymous 1/18 - 1
7-140924582-G-A c.122C>T p.P41L Missense 1/18 - 3
7-140924583-G-T c.121C>A p.P41T Missense 1/18 - 1
7-140924584-G-C c.120C>G p.D40E Missense 1/18 - 1
7-140924584-G-T c.120C>A p.D40E Missense 1/18 - 1
7-140924585-T-C c.119A>G p.D40G Missense 1/18 - 1
7-140924585-TC-AA c.118_119delinsTT p.D40F Missense 1/18 - 1
7-140924585-T-G c.119A>C p.D40A Missense 1/18 - 1
7-140924586-C-A c.118G>T p.D40Y Missense 1/18 - 3
7-140924586-C-G c.118G>C p.D40H Missense 1/18 - 1
7-140924586-C-T c.118G>A p.D40N Missense 1/18 - 1
7-140924587-C-A c.117G>T p.A39= Synonymous 1/18 - 3
7-140924587-C-G c.117G>C p.A39= Synonymous 1/18 - 2
7-140924587-CGC-AAA c.115_117delinsTTT p.A39F Missense 1/18 - 2
7-140924587-CGC-ACA c.115_117delinsTGT p.A39C Missense 1/18 - 2
7-140924587-CGC-GAT c.115_117delinsATC p.A39I Missense 1/18 - 4
7-140924587-CGC-GTT c.115_117delinsAAC p.A39N Missense 1/18 - 5
7-140924587-CG-GT c.116_117delinsAC p.A39D Missense 1/18 - 3
7-140924587-C-T c.117G>A p.A39= Synonymous 1/18 - 3
7-140924588-G-A c.116C>T p.A39V Missense 1/18 - 3
7-140924588-GC-AG c.115_116delinsCT p.A39L Missense 1/18 - 5
7-140924588-GC-AT c.115_116delinsAT p.A39M Missense 1/18 - 12
7-140924588-GC-CT c.115_116delinsAG p.A39R Missense 1/18 - 8
7-140924588-GC-TT c.115_116delinsAA p.A39K Missense 1/18 - 11
7-140924589-C-A c.115G>T p.A39S Missense 1/18 - 13
7-140924589-C-G c.115G>C p.A39P Missense 1/18 - 13
7-140924589-C-T c.115G>A p.A39T Missense 1/18 - 12
7-140924590-A-C c.114T>G p.A38= Synonymous 1/18 - 1
7-140924590-A-G c.114T>C p.A38= Synonymous 1/18 - 1
7-140924590-A-T c.114T>A p.A38= Synonymous 1/18 - 1
7-140924591-G-A c.113C>T p.A38V Missense 1/18 - 1
7-140924591-G-C c.113C>G p.A38G Missense 1/18 - 4
7-140924591-GC-AA c.112_113delinsTT p.A38F Missense 1/18 - 4
7-140924591-GC-CA c.112_113delinsTG p.A38C Missense 1/18 - 4
7-140924591-G-T c.113C>A p.A38D Missense 1/18 - 2
7-140924592-C-A c.112G>T p.A38S Missense 1/18 - 1
7-140924592-C-T c.112G>A p.A38T Missense 1/18 - 3
7-140924593-C-A c.111G>T p.S37= Synonymous 1/18 - 2
7-140924593-CG-AA c.110_111delinsTT p.S37F Missense 1/18 - 8
7-140924593-CG-AC c.110_111delinsGT p.S37C Missense 1/18 - 4
7-140924593-CGA-GTT c.109_111delinsAAC p.S37N Missense 1/18 - 1
7-140924593-CG-AT c.110_111delinsAT p.S37Y Missense 1/18 - 3
7-140924593-C-T c.111G>A p.S37= Synonymous 1/18 - 3
7-140924594-G-A c.110C>T p.S37L Missense 1/18 - 8
7-140924594-GA-AC c.109_110delinsGT p.S37V Missense 1/18 - 1
7-140924594-G-C c.110C>G p.S37W Missense 1/18 - 3
7-140924594-G-T c.110C>A p.S37* Nonsense 1/18 - 4
7-140924595-A-C c.109T>G p.S37A Missense 1/18 - 6
7-140924595-A-G c.109T>C p.S37P Missense 1/18 - 3
7-140924595-A-T c.109T>A p.S37T Missense 1/18 - 1
7-140924596-A-G c.108T>C p.S36= Synonymous 1/18 - 1
7-140924597-G-A c.107C>T p.S36F Missense 1/18 - 3
7-140924597-GA-AG c.106_107delinsCT p.S36L Missense 1/18 - 2
7-140924597-GA-TT c.106_107delinsAA p.S36N Missense 1/18 - 1
7-140924598-A-C c.106T>G p.S36A Missense 1/18 - 3
7-140924599-AGGC-A c.103_105del p.A35del InFrameDeletion 1/18 - 1
7-140924599-G-C c.105C>G p.A35= Synonymous 1/18 - 1
7-140924599-GGC-CTT c.103_105delinsAAG p.A35K Missense 1/18 - 1
7-140924599-GG-CT c.104_105delinsAG p.A35E Missense 1/18 - 2
7-140924600-G-A c.104C>T p.A35V Missense 1/18 - 2
7-140924600-GC-AA c.103_104delinsTT p.A35F Missense 1/18 - 2
7-140924600-GC-CA c.103_104delinsTG p.A35C Missense 1/18 - 4
7-140924600-G-T c.104C>A p.A35D Missense 1/18 - 2
7-140924601-C-A c.103G>T p.A35S Missense 1/18 - 1
7-140924601-C-T c.103G>A p.A35T Missense 1/18 - 2
7-140924602-C-A c.102G>T p.A34= Synonymous 1/18 - 5
7-140924602-C-G c.102G>C p.A34= Synonymous 1/18 - 4
7-140924602-CGC-GAT c.100_102delinsATC p.A34I Missense 1/18 - 1
7-140924602-CG-GT c.101_102delinsAC p.A34D Missense 1/18 - 2
7-140924602-C-T c.102G>A p.A34= Synonymous 1/18 - 5
7-140924603-G-A c.101C>T p.A34V Missense 1/18 - 1
7-140924603-GC-AG c.100_101delinsCT p.A34L Missense 1/18 - 1
7-140924603-GC-TG c.100_101delinsCA p.A34Q Missense 1/18 - 1
7-140924603-G-T c.101C>A p.A34E Missense 1/18 - 2
7-140924603-G-GCTGCAC c.100_101insGTGCAG p.G32_A33dup InFrameInsertion 1/18 - 1
7-140924604-C-A c.100G>T p.A34S Missense 1/18 - 2
7-140924604-C-T c.100G>A p.A34T Missense 1/18 - 3
7-140924602-CGCGGCGCCGGCGCCGGCGCCG-C c.81_101del p.G28_A34del InFrameDeletion 1/18 - 1
7-140924605-G-A c.99C>T p.A33= Synonymous 1/18 - 3
7-140924605-G-C c.99C>G p.A33= Synonymous 1/18 - 2
7-140924605-GGC-CTT c.97_99delinsAAG p.A33K Missense 1/18 - 2
7-140924605-GG-CT c.98_99delinsAG p.A33E Missense 1/18 - 4
7-140924605-GGC-TTG c.97_99delinsCAA p.A33Q Missense 1/18 - 3
7-140924605-G-T c.99C>A p.A33= Synonymous 1/18 - 2
7-140924602-CGCG-C c.99_101del p.A35del InFrameDeletion 1/18 - 3
7-140924606-G-A c.98C>T p.A33V Missense 1/18 - 4
7-140924606-G-C c.98C>G p.A33G Missense 1/18 - 1
7-140924606-GC-AA c.97_98delinsTT p.A33F Missense 1/18 - 2
7-140924606-GC-CA c.97_98delinsTG p.A33C Missense 1/18 - 1
7-140924606-GC-CG c.97_98delinsCG p.A33R Missense 1/18 - 4
7-140924606-GC-TT c.97_98delinsAA p.A33N Missense 1/18 - 1
7-140924606-G-T c.98C>A p.A33D Missense 1/18 - 2
7-140924607-C-A c.97G>T p.A33S Missense 1/18 - 2
7-140924607-C-G c.97G>C p.A33P Missense 1/18 - 1
7-140924607-C-T c.97G>A p.A33T Missense 1/18 - 3
7-140924608-G-A c.96C>T p.G32= Synonymous 1/18 - 1
7-140924610-C-A c.94G>T p.G32C Missense 1/18 - 3
7-140924610-C-G c.94G>C p.G32R Missense 1/18 - 3
7-140924610-C-T c.94G>A p.G32S Missense 1/18 - 1
7-140924607-CGCCGGCGCCGGCGCCG-C c.81_96del p.G28Pfs*21 Frameshift 1/18 - 2
7-140924611-G-A c.93C>T p.A31= Synonymous 1/18 - 2
7-140924611-G-C c.93C>G p.A31= Synonymous 1/18 - 1
7-140924611-GG-CT c.92_93delinsAG p.A31E Missense 1/18 - 1
7-140924611-GGC-TTA c.91_93delinsTAA p.A31* Nonsense 1/18 - 1
7-140924611-G-T c.93C>A p.A31= Synonymous 1/18 - 1
7-140924612-G-A c.92C>T p.A31V Missense 1/18 - 2
7-140924612-G-C c.92C>G p.A31G Missense 1/18 - 3
7-140924612-GC-AA c.91_92delinsTT p.A31F Missense 1/18 - 3
7-140924612-GC-AG c.91_92delinsCT p.A31L Missense 1/18 - 4
7-140924612-GC-CA c.91_92delinsTG p.A31C Missense 1/18 - 2
7-140924612-GC-CG c.91_92delinsCG p.A31R Missense 1/18 - 1
7-140924612-GC-TT c.91_92delinsAA p.A31N Missense 1/18 - 2
7-140924612-G-T c.92C>A p.A31D Missense 1/18 - 1
7-140924613-C-A c.91G>T p.A31S Missense 1/18 - 3
7-140924613-C-T c.91G>A p.A31T Missense 1/18 - 4
7-140924603-GCGGCGCCGGCGC-G c.89_100del p.G30_A33del InFrameDeletion 1/18 - 7
7-140924614-G-A c.90C>T p.G30= Synonymous 1/18 - 2
7-140924614-G-C c.90C>G p.G30= Synonymous 1/18 - 1
7-140924614-GC-CT c.89_90delinsAG p.G30E Missense 1/18 - 2
7-140924614-G-T c.90C>A p.G30= Synonymous 1/18 - 1
7-140924615-CC-GG c.88_89inv p.G30P Missense 1/18 - 1
7-140924615-CC-TT c.88_89delinsAA p.G30N Missense 1/18 - 1
7-140924615-C-G c.89G>C p.G30A Missense 1/18 - 2
7-140924615-C-T c.89G>A p.G30D Missense 1/18 - 6
7-140924614-GC-G c.89del p.G30Afs*24 Frameshift 1/18 - 1
7-140924616-C-G c.88G>C p.G30R Missense 1/18 - 1
7-140924617-G-A c.87C>T p.A29= Synonymous 1/18 - 19
7-140924617-G-C c.87C>G p.A29= Synonymous 1/18 - 16
7-140924617-GGC-CAT c.85_87delinsATG p.A29M Missense 1/18 - 14
7-140924617-GGC-CCA c.85_87delinsTGG p.A29W Missense 1/18 - 15
7-140924617-GG-CT c.86_87delinsAG p.A29E Missense 1/18 - 16
7-140924617-GGC-TTA c.85_87delinsTAA p.A29* Nonsense 1/18 - 7
7-140924617-GGC-TTG c.85_87delinsCAA p.A29Q Missense 1/18 - 11
7-140924617-G-T c.87C>A p.A29= Synonymous 1/18 - 16
7-140924616-CG-C c.87del p.G30Afs*24 Frameshift 1/18 - 1
7-140924618-G-A c.86C>T p.A29V Missense 1/18 - 10
7-140924618-G-C c.86C>G p.A29G Missense 1/18 - 9
7-140924618-GC-AA c.85_86delinsTT p.A29F Missense 1/18 - 1
7-140924618-GC-AG c.85_86delinsCT p.A29L Missense 1/18 - 10
7-140924618-GC-AT c.85_86delinsAT p.A29I Missense 1/18 - 4
7-140924618-GC-CA c.85_86delinsTG p.A29C Missense 1/18 - 16
7-140924618-GC-CG c.85_86delinsCG p.A29R Missense 1/18 - 11
7-140924618-GC-TA c.85_86delinsTA p.A29Y Missense 1/18 - 1
7-140924618-GC-TG c.85_86delinsCA p.A29H Missense 1/18 - 16
7-140924618-GC-TT c.85_86delinsAA p.A29N Missense 1/18 - 13
7-140924618-G-T c.86C>A p.A29D Missense 1/18 - 12
7-140924619-C-A c.85G>T p.A29S Missense 1/18 - 10
7-140924619-C-G c.85G>C p.A29P Missense 1/18 - 15
7-140924619-C-T c.85G>A p.A29T Missense 1/18 - 17
7-140924603-GCGGCGC-G c.95_100del p.G32_A33del InFrameDeletion 1/18 - 6
7-140924620-G-A c.84C>T p.G28= Synonymous 1/18 - 1
7-140924620-G-C c.84C>G p.G28= Synonymous 1/18 - 2
7-140924621-C-A c.83G>T p.G28V Missense 1/18 - 3
7-140924621-CC-GT c.82_83delinsAC p.G28T Missense 1/18 - 1
7-140924621-C-G c.83G>C p.G28A Missense 1/18 - 2
7-140924622-C-A c.82G>T p.G28C Missense 1/18 - 1
7-140924622-C-G c.82G>C p.G28R Missense 1/18 - 1
7-140924622-C-T c.82G>A p.G28S Missense 1/18 - 1
7-140924623-G-A c.81C>T p.A27= Synonymous 1/18 - 6
7-140924623-G-C c.81C>G p.A27= Synonymous 1/18 - 4
7-140924623-GGC-CAT c.79_81delinsATG p.A27M Missense 1/18 - 3
7-140924623-GGC-CTT c.79_81delinsAAG p.A27K Missense 1/18 - 4
7-140924623-GG-CT c.80_81delinsAG p.A27E Missense 1/18 - 2
7-140924623-GGC-TTG c.79_81delinsCAA p.A27Q Missense 1/18 - 3
7-140924623-G-T c.81C>A p.A27= Synonymous 1/18 - 6
7-140924624-G-A c.80C>T p.A27V Missense 1/18 - 6
7-140924624-G-C c.80C>G p.A27G Missense 1/18 - 3
7-140924624-GC-AA c.79_80delinsTT p.A27F Missense 1/18 - 3
7-140924624-GC-AG c.79_80delinsCT p.A27L Missense 1/18 - 11
7-140924624-GC-AT c.79_80delinsAT p.A27I Missense 1/18 - 3
7-140924624-GC-CA c.79_80delinsTG p.A27C Missense 1/18 - 1
7-140924624-GC-CG c.79_80delinsCG p.A27R Missense 1/18 - 1
7-140924624-GC-TG c.79_80delinsCA p.A27H Missense 1/18 - 1
7-140924624-GC-TT c.79_80delinsAA p.A27N Missense 1/18 - 3
7-140924624-G-GGTA c.79_80insTAC p.A27delinsVP MultiAAMissense 1/18 - 1
7-140924624-G-T c.80C>A p.A27D Missense 1/18 - 13
7-140924625-C-A c.79G>T p.A27S Missense 1/18 - 1
7-140924625-C-G c.79G>C p.A27P Missense 1/18 - 2
7-140924625-C-T c.79G>A p.A27T Missense 1/18 - 7
7-140924625-C-CCAA c.78_79insTTG p.E26_A27insL InFrameInsertion 1/18 - 1
7-140924626-C-A c.78G>T p.E26D Missense 1/18 - 15
7-140924626-C-G c.78G>C p.E26D Missense 1/18 - 8
7-140924627-T-C c.77A>G p.E26G Missense 1/18 - 1
7-140924627-T-G c.77A>C p.E26A Missense 1/18 - 1
7-140924628-C-G c.76G>C p.E26Q Missense 1/18 - 1
7-140924628-C-T c.76G>A p.E26K Missense 1/18 - 3
7-140924628-TC-T c.76del p.E26Rfs*28 Frameshift 1/18 - 1
7-140924629-G-A c.75C>T p.P25= Synonymous 1/18 - 2
7-140924629-G-C c.75C>G p.P25= Synonymous 1/18 - 1
7-140924629-G-T c.75C>A p.P25= Synonymous 1/18 - 1
7-140924630-G-A c.74C>T p.P25L Missense 1/18 - 3
7-140924630-G-T c.74C>A p.P25H Missense 1/18 - 1
7-140924631-G-C c.73C>G p.P25A Missense 1/18 - 1
7-140924631-G-T c.73C>A p.P25T Missense 1/18 - 2
7-140924632-C-A c.72G>T p.E24D Missense 1/18 - 4
7-140924632-C-G c.72G>C p.E24D Missense 1/18 - 5
7-140924632-C-T c.72G>A p.E24= Synonymous 1/18 - 2
7-140924633-TC-GA c.70_71inv p.E24S Missense 1/18 - 2
7-140924635-C-T c.69G>A p.M23I Missense 1/18 - 1
7-140924636-A-G c.68T>C p.M23T Missense 1/18 - 1
7-140924638-G-C c.66C>G p.D22E Missense 1/18 - 1
7-140924638-G-T c.66C>A p.D22E Missense 1/18 - 1
7-140924638-GTC-CAT c.64_66delinsATG p.D22M Missense 1/18 - 1
7-140924638-GTC-TTA c.64_66delinsTAA p.D22* Nonsense 1/18 - 1
7-140924639-T-C c.65A>G p.D22G Missense 1/18 - 5
7-140924640-C-A c.64G>T p.D22Y Missense 1/18 - 2
7-140924640-C-G c.64G>C p.D22H Missense 1/18 - 3
7-140924640-C-T c.64G>A p.D22N Missense 1/18 - 52
7-140924641-C-A c.63G>T p.G21= Synonymous 1/18 - 1
7-140924641-CCC-ACA c.61_63delinsTGT p.G21C Missense 1/18 - 2
7-140924641-CC-GT c.62_63delinsAC p.G21D Missense 1/18 - 3
7-140924642-C-A c.62G>T p.G21V Missense 1/18 - 2
7-140924642-CC-GT c.61_62delinsAC p.G21T Missense 1/18 - 1
7-140924642-C-T c.62G>A p.G21E Missense 1/18 - 2
7-140924643-C-G c.61G>C p.G21R Missense 1/18 - 2
7-140924643-C-T c.61G>A p.G21R Missense 1/18 - 4
7-140924642-CCGTTGAACAGAG-C c.50_61del p.A17_N20del InFrameDeletion 1/18 - 1
7-140924644-G-A c.60C>T p.N20= Synonymous 1/18 - 1
7-140924645-T-C c.59A>G p.N20S Missense 1/18 - 1
7-140924645-TT-GC c.58_59delinsGC p.N20A Missense 1/18 - 1
7-140924647-G-A c.57C>T p.F19= Synonymous 1/18 - 3
7-140924647-G-C c.57C>G p.F19L Missense 1/18 - 1
7-140924648-AA-TC c.55_56delinsGA p.F19D Missense 1/18 - 1
7-140924649-A-G c.55T>C p.F19L Missense 1/18 - 1
7-140924650-C-A c.54G>T p.L18= Synonymous 1/18 - 1
7-140924650-CAG-AAA c.52_54delinsTTT p.L18F Missense 1/18 - 1
7-140924650-CAG-GAT c.52_54delinsATC p.L18I Missense 1/18 - 1
7-140924651-A-G c.53T>C p.L18P Missense 1/18 - 1
7-140924652-G-A c.52C>T p.L18= Synonymous 1/18 - 1
7-140924652-G-C c.52C>G p.L18V Missense 1/18 - 1
7-140924650-CAG-C c.52_53del p.L18Vfs*37 Frameshift 1/18 - 1
7-140924653-A-C c.51T>G p.A17= Synonymous 1/18 - 3
7-140924653-A-G c.51T>C p.A17= Synonymous 1/18 - 3
7-140924653-AGC-CAT c.49_51delinsATG p.A17M Missense 1/18 - 1
7-140924653-AGC-CCA c.49_51delinsTGG p.A17W Missense 1/18 - 2
7-140924653-AGC-CTT c.49_51delinsAAG p.A17K Missense 1/18 - 1
7-140924653-AGC-TTA c.49_51delinsTAA p.A17* Nonsense 1/18 - 8
7-140924653-AGC-TTG c.49_51delinsCAA p.A17Q Missense 1/18 - 3
7-140924653-A-T c.51T>A p.A17= Synonymous 1/18 - 3
7-140924654-G-A c.50C>T p.A17V Missense 1/18 - 6
7-140924654-G-C c.50C>G p.A17G Missense 1/18 - 3
7-140924654-GC-AA c.49_50delinsTT p.A17F Missense 1/18 - 2
7-140924654-GC-CA c.49_50delinsTG p.A17C Missense 1/18 - 1
7-140924654-GC-TA c.49_50delinsTA p.A17Y Missense 1/18 - 14
7-140924654-GC-TG c.49_50delinsCA p.A17H Missense 1/18 - 1
7-140924654-G-T c.50C>A p.A17D Missense 1/18 - 6
7-140924655-C-A c.49G>T p.A17S Missense 1/18 - 4
7-140924655-C-T c.49G>A p.A17T Missense 1/18 - 9
7-140924656-C-A c.48G>T p.Q16H Missense 1/18 - 3
7-140924656-C-G c.48G>C p.Q16H Missense 1/18 - 1
7-140924657-T-A c.47A>T p.Q16L Missense 1/18 - 4
7-140924657-T-C c.47A>G p.Q16R Missense 1/18 - 9
7-140924658-G-C c.46C>G p.Q16E Missense 1/18 - 1
7-140924658-G-T c.46C>A p.Q16K Missense 1/18 - 2
7-140924659-GC-CT c.44_45delinsAG p.G15E Missense 1/18 - 1
7-140924660-C-A c.44G>T p.G15V Missense 1/18 - 6
7-140924660-C-G c.44G>C p.G15A Missense 1/18 - 3
7-140924660-C-T c.44G>A p.G15D Missense 1/18 - 4
7-140924659-GCCCGGCTC-G c.37_44del p.E13Pfs*40 Frameshift 1/18 - 1
7-140924661-C-A c.43G>T p.G15C Missense 1/18 - 2
7-140924661-C-G c.43G>C p.G15R Missense 1/18 - 1
7-140924661-C-T c.43G>A p.G15S Missense 1/18 - 4
7-140924662-C-A c.42G>T p.P14= Synonymous 1/18 - 1
7-140924662-CGG-ACA c.40_42delinsTGT p.P14C Missense 1/18 - 1
7-140924662-CGG-GTC c.40_42delinsGAC p.P14D Missense 1/18 - 1
7-140924663-G-A c.41C>T p.P14L Missense 1/18 - 3
7-140924663-G-C c.41C>G p.P14R Missense 1/18 - 1
7-140924664-G-A c.40C>T p.P14S Missense 1/18 - 2
7-140924664-G-C c.40C>G p.P14A Missense 1/18 - 3
7-140924664-G-T c.40C>A p.P14T Missense 1/18 - 2
7-140924665-C-A c.39G>T p.E13D Missense 1/18 - 1
7-140924665-CTC-AAA c.37_39delinsTTT p.E13F Missense 1/18 - 5
7-140924665-CTC-ACA c.37_39delinsTGT p.E13C Missense 1/18 - 2
7-140924665-CTC-ATA c.37_39delinsTAT p.E13Y Missense 1/18 - 1
7-140924666-T-C c.38A>G p.E13G Missense 1/18 - 1
7-140924666-TC-CT c.37_38delinsAG p.E13R Missense 1/18 - 1
7-140924667-C-A c.37G>T p.E13* Nonsense 1/18 - 6
7-140924667-C-G c.37G>C p.E13Q Missense 1/18 - 7
7-140924667-C-T c.37G>A p.E13K Missense 1/18 - 7
7-140924663-GGCTCCGCGCCGCCACCACCGCCACC-G c.16_40del p.G6Rfs*40 Frameshift 1/18 - 1
7-140924668-C-A c.36G>T p.A12= Synonymous 1/18 - 5
7-140924668-C-G c.36G>C p.A12= Synonymous 1/18 - 3
7-140924668-CGC-AAA c.34_36delinsTTT p.A12F Missense 1/18 - 3
7-140924668-CGC-ATA c.34_36delinsTAT p.A12Y Missense 1/18 - 1
7-140924668-CGC-ATG c.34_36delinsCAT p.A12H Missense 1/18 - 2
7-140924668-CGC-GTT c.34_36delinsAAC p.A12N Missense 1/18 - 1
7-140924668-CG-GT c.35_36delinsAC p.A12D Missense 1/18 - 1
7-140924668-C-T c.36G>A p.A12= Synonymous 1/18 - 4
7-140924669-G-A c.35C>T p.A12V Missense 1/18 - 6
7-140924669-G-C c.35C>G p.A12G Missense 1/18 - 1
7-140924669-GC-AG c.34_35delinsCT p.A12L Missense 1/18 - 3
7-140924669-GC-AT c.34_35delinsAT p.A12M Missense 1/18 - 1
7-140924669-GC-TA c.34_35delinsTA p.A12* Nonsense 1/18 - 2
7-140924669-GC-TG c.34_35delinsCA p.A12Q Missense 1/18 - 2
7-140924669-GC-TT c.34_35delinsAA p.A12K Missense 1/18 - 2
7-140924669-G-T c.35C>A p.A12E Missense 1/18 - 6
7-140924670-C-A c.34G>T p.A12S Missense 1/18 - 22
7-140924670-C-G c.34G>C p.A12P Missense 1/18 - 22
7-140924670-C-T c.34G>A p.A12T Missense 1/18 - 16
7-140924671-G-A c.33C>T p.G11= Synonymous 1/18 - 1
7-140924671-GC-CT c.32_33delinsAG p.G11E Missense 1/18 - 1
7-140924671-G-T c.33C>A p.G11= Synonymous 1/18 - 1
7-140924672-C-A c.32G>T p.G11V Missense 1/18 - 2
7-140924672-C-G c.32G>C p.G11A Missense 1/18 - 1
7-140924672-C-T c.32G>A p.G11D Missense 1/18 - 1
7-140924672-GCCGCCACCACCGCCACCGCTCAGC-G c.9_32del p.L4_G11del InFrameDeletion 1/18 - 1
7-140924673-C-A c.31G>T p.G11C Missense 1/18 - 2
7-140924673-C-G c.31G>C p.G11R Missense 1/18 - 1
7-140924673-C-T c.31G>A p.G11S Missense 1/18 - 1
7-140924674-G-A c.30C>T p.G10= Synonymous 1/18 - 1
7-140924674-GC-CT c.29_30delinsAG p.G10E Missense 1/18 - 1
7-140924675-C-A c.29G>T p.G10V Missense 1/18 - 2
7-140924675-C-T c.29G>A p.G10D Missense 1/18 - 2
7-140924674-GC-G c.29del p.G10Afs*44 Frameshift 1/18 - 1
7-140924676-C-A c.28G>T p.G10C Missense 1/18 - 2
7-140924676-C-G c.28G>C p.G10R Missense 1/18 - 1
7-140924676-C-T c.28G>A p.G10S Missense 1/18 - 1
7-140924677-A-G c.27T>C p.G9= Synonymous 1/18 - 1
7-140924677-A-T c.27T>A p.G9= Synonymous 1/18 - 1
7-140924678-C-A c.26G>T p.G9V Missense 1/18 - 2
7-140924678-C-G c.26G>C p.G9A Missense 1/18 - 2
7-140924678-C-T c.26G>A p.G9D Missense 1/18 - 2
7-140924679-C-A c.25G>T p.G9C Missense 1/18 - 2
7-140924679-C-T c.25G>A p.G9S Missense 1/18 - 2
7-140924680-A-C c.24T>G p.G8= Synonymous 1/18 - 1
7-140924680-A-G c.24T>C p.G8= Synonymous 1/18 - 1
7-140924680-A-T c.24T>A p.G8= Synonymous 1/18 - 1
7-140924681-C-A c.23G>T p.G8V Missense 1/18 - 1
7-140924682-C-A c.22G>T p.G8C Missense 1/18 - 2
7-140924682-C-G c.22G>C p.G8R Missense 1/18 - 1
7-140924682-C-T c.22G>A p.G8S Missense 1/18 - 2
7-140924683-G-A c.21C>T p.G7= Synonymous 1/18 - 3
7-140924683-G-C c.21C>G p.G7= Synonymous 1/18 - 3
7-140924683-G-T c.21C>A p.G7= Synonymous 1/18 - 1
7-140924684-C-A c.20G>T p.G7V Missense 1/18 - 1
7-140924684-C-T c.20G>A p.G7D Missense 1/18 - 1
7-140924685-C-A c.19G>T p.G7C Missense 1/18 - 1
7-140924685-C-G c.19G>C p.G7R Missense 1/18 - 2
7-140924685-C-T c.19G>A p.G7S Missense 1/18 - 2
7-140924686-A-C c.18T>G p.G6= Synonymous 1/18 - 2
7-140924686-AC-CT c.17_18delinsAG p.G6E Missense 1/18 - 1
7-140924686-A-G c.18T>C p.G6= Synonymous 1/18 - 2
7-140924686-A-T c.18T>A p.G6= Synonymous 1/18 - 2
7-140924687-C-G c.17G>C p.G6A Missense 1/18 - 1
7-140924688-C-A c.16G>T p.G6C Missense 1/18 - 1
7-140924688-C-G c.16G>C p.G6R Missense 1/18 - 1
7-140924688-C-T c.16G>A p.G6S Missense 1/18 - 2
7-140924689-G-A c.15C>T p.S5= Synonymous 1/18 - 1
7-140924689-G-C c.15C>G p.S5R Missense 1/18 - 1
7-140924689-G-T c.15C>A p.S5R Missense 1/18 - 2
7-140924690-C-A c.14G>T p.S5I Missense 1/18 - 1
7-140924690-C-T c.14G>A p.S5N Missense 1/18 - 1
7-140924691-T-C c.13A>G p.S5G Missense 1/18 - 1
7-140924692-C-A c.12G>T p.L4= Synonymous 1/18 - 3
7-140924692-C-G c.12G>C p.L4= Synonymous 1/18 - 2
7-140924692-C-T c.12G>A p.L4= Synonymous 1/18 - 2
7-140924694-G-A c.10C>T p.L4= Synonymous 1/18 - 2
7-140924694-G-C c.10C>G p.L4V Missense 1/18 - 1
7-140924694-G-T c.10C>A p.L4M Missense 1/18 - 1
7-140924695-C-A c.9G>T p.A3= Synonymous 1/18 - 2
7-140924695-C-G c.9G>C p.A3= Synonymous 1/18 - 1
7-140924695-C-T c.9G>A p.A3= Synonymous 1/18 - 2
7-140924696-G-A c.8C>T p.A3V Missense 1/18 - 1
7-140924697-C-T c.7G>A p.A3T Missense 1/18 - 1
7-140924696-GC-G c.7del p.A3Rfs*2 Frameshift 1/18 - 1
7-140924698-C-A c.6G>T p.A2= Synonymous 1/18 - 2
7-140924698-C-G c.6G>C p.A2= Synonymous 1/18 - 1
7-140924698-C-T c.6G>A p.A2= Synonymous 1/18 - 1
7-140924699-G-A c.5C>T p.A2V Missense 1/18 - 2
7-140924699-G-T c.5C>A p.A2E Missense 1/18 - 1
7-140924700-C-T c.4G>A p.A2T Missense 1/18 - 1
7-140924701-C-T c.3G>A p.M1? Missense 1/18 - 2
7-140924702-A-G c.2T>C p.M1? Missense 1/18 - 3
7-140924708-T-A c.-5A>T - 5-UTRSNV 1/18 - 3
7-140924708-T-C c.-5A>G - 5-UTRSNV 1/18 - 3
7-140924710-A-G c.-7T>C - 5-UTRSNV 1/18 - 1
7-140924721-G-C c.-18C>G - 5-UTRSNV 1/18 - 1
7-140924722-G-A c.-19C>T - 5-UTRSNV 1/18 - 1
7-140924740-C-T c.-37G>A - 5-UTRSNV 1/18 - 1