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