Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-156612157-C-T | c.-9+90C>T | - | intron_variant | - | 1/13 | 1 |
1-156613517-C-A | c.-9+1450C>A | - | intron_variant | - | 1/13 | 1 |
1-156613775-T-C | c.-9+1708T>C | - | intron_variant | - | 1/13 | 1 |
1-156613775-T-G | c.-9+1708T>G | - | intron_variant | - | 1/13 | 1 |
1-156614292-C-G | c.-8-1547C>G | - | IntronicSNV | - | 1/13 | 1 |
1-156614292-C-T | c.-8-1547C>T | - | IntronicSNV | - | 1/13 | 1 |
1-156615087-A-G | c.-8-752A>G | - | IntronicSNV | - | 1/13 | 1 |
1-156615114-A-G | c.-8-725A>G | - | IntronicSNV | - | 1/13 | 2 |
1-156615194-G-A | c.-8-645G>A | - | IntronicSNV | - | 1/13 | 2 |
1-156615851-C-T | c.5C>T | p.A2V | Missense | 2/14 | - | 1 |
1-156615852-C-A | c.6C>A | p.A2= | Synonymous | 2/14 | - | 1 |
1-156615852-C-G | c.6C>G | p.A2= | Synonymous | 2/14 | - | 1 |
1-156615852-C-T | c.6C>T | p.A2= | Synonymous | 2/14 | - | 1 |
1-156615856-CT-TC | c.10_11delinsTC | p.L4S | Missense | 2/14 | - | 1 |
1-156615861-C-T | c.15C>T | p.F5= | Synonymous | 2/14 | - | 2 |
1-156615866-C-A | c.20C>A | p.P7H | Missense | 2/14 | - | 1 |
1-156615871-C-A | c.25C>A | p.L9M | Missense | 2/14 | - | 1 |
1-156615874-GCA-ATG | c.28_30delinsATG | p.A10M | Missense | 2/14 | - | 1 |
1-156615874-GCA-TAT | c.28_30delinsTAT | p.A10Y | Missense | 2/14 | - | 1 |
1-156615874-GCA-TGT | c.28_30delinsTGT | p.A10C | Missense | 2/14 | - | 1 |
1-156615875-C-T | c.29C>T | p.A10V | Missense | 2/14 | - | 1 |
1-156615877-GC-AA | c.31_32delinsAA | p.A11N | Missense | 2/14 | - | 1 |
1-156615877-GC-TG | c.31_32delinsTG | p.A11C | Missense | 2/14 | - | 1 |
1-156615878-C-A | c.32C>A | p.A11D | Missense | 2/14 | - | 1 |
1-156615878-CC-AG | c.32_33delinsAG | p.A11E | Missense | 2/14 | - | 1 |
1-156615879-C-A | c.33C>A | p.A11= | Synonymous | 2/14 | - | 1 |
1-156615879-C-G | c.33C>G | p.A11= | Synonymous | 2/14 | - | 1 |
1-156615879-C-T | c.33C>T | p.A11= | Synonymous | 2/14 | - | 1 |
1-156615885-C-A | c.39C>A | p.V13= | Synonymous | 2/14 | - | 2 |
1-156615885-C-G | c.39C>G | p.V13= | Synonymous | 2/14 | - | 2 |
1-156615885-C-T | c.39C>T | p.V13= | Synonymous | 2/14 | - | 2 |
1-156615886-C-A | c.40C>A | p.L14M | Missense | 2/14 | - | 3 |
1-156615889-GCC-TAA | c.43_45delinsTAA | p.A15* | Nonsense | 2/14 | - | 1 |
1-156615890-C-T | c.44C>T | p.A15V | Missense | 2/14 | - | 1 |
1-156615891-C-A | c.45C>A | p.A15= | Synonymous | 2/14 | - | 1 |
1-156615892-C-A | c.46C>A | p.Q16K | Missense | 2/14 | - | 1 |
1-156615895-GCT-TAA | c.49_51delinsTAA | p.A17* | Nonsense | 2/14 | - | 3 |
1-156615896-C-T | c.50C>T | p.A17V | Missense | 2/14 | - | 1 |
1-156615898-C-G | c.52C>G | p.P18A | Missense | 2/14 | - | 1 |
1-156615899-C-A | c.53C>A | p.P18H | Missense | 2/14 | - | 2 |
1-156615900-T-A | c.54T>A | p.P18= | Synonymous | 2/14 | - | 1 |
1-156615901-GCA-TGG | c.55_57delinsTGG | p.A19W | Missense | 2/14 | - | 1 |
1-156615901-GCA-TTT | c.55_57delinsTTT | p.A19F | Missense | 2/14 | - | 1 |
1-156615902-C-G | c.56C>G | p.A19G | Missense | 2/14 | - | 3 |
1-156615902-C-T | c.56C>T | p.A19V | Missense | 2/14 | - | 1 |
1-156615903-A-C | c.57A>C | p.A19= | Synonymous | 2/14 | - | 1 |
1-156615903-A-G | c.57A>G | p.A19= | Synonymous | 2/14 | - | 1 |
1-156615903-A-T | c.57A>T | p.A19= | Synonymous | 2/14 | - | 1 |
1-156615904-GC-CA | c.58_59delinsCA | p.A20H | Missense | 2/14 | - | 3 |
1-156615904-GC-TT | c.58_59delinsTT | p.A20F | Missense | 2/14 | - | 2 |
1-156615905-C-A | c.59C>A | p.A20D | Missense | 2/14 | - | 2 |
1-156615910-G-T | c.64G>T | p.A22S | Missense | 2/14 | - | 1 |
1-156615917-T-C | c.71T>C | p.V24A | Missense | 2/14 | - | 1 |
1-156615917-T-G | c.71T>G | p.V24G | Missense | 2/14 | - | 1 |
1-156615927-A-C | c.81A>C | p.G27= | Synonymous | 2/14 | - | 1 |
1-156615927-A-G | c.81A>G | p.G27= | Synonymous | 2/14 | - | 1 |
1-156615927-A-T | c.81A>T | p.G27= | Synonymous | 2/14 | - | 1 |
1-156615931-AGC-TGA | c.85_87delinsTGA | p.S29* | Nonsense | 2/14 | - | 1 |
1-156616442-A-C | c.92-151A>C | - | IntronicSNV | - | 2/13 | 1 |
1-156616442-A-G | c.92-151A>G | - | IntronicSNV | - | 2/13 | 1 |
1-156616599-G-A | c.98G>A | p.R33H | Missense | 3/14 | - | 3 |
1-156616600-C-A | c.99C>A | p.R33= | Synonymous | 3/14 | - | 1 |
1-156616600-C-G | c.99C>G | p.R33= | Synonymous | 3/14 | - | 1 |
1-156616600-C-T | c.99C>T | p.R33= | Synonymous | 3/14 | - | 1 |
1-156616602-C-G | c.101C>G | p.A34G | Missense | 3/14 | - | 1 |
1-156616607-C-A | c.106C>A | p.R36S | Missense | 3/14 | - | 1 |
1-156616607-C-T | c.106C>T | p.R36C | Missense | 3/14 | - | 3 |
1-156616608-G-A | c.107G>A | p.R36H | Missense | 3/14 | - | 2 |
1-156616610-G-A | c.109G>A | p.V37M | Missense | 3/14 | - | 2 |
1-156616613-C-T | c.112C>T | p.R38C | Missense | 3/14 | - | 2 |
1-156616614-G-A | c.113G>A | p.R38H | Missense | 3/14 | - | 1 |
1-156616616-A-G | c.115A>G | p.I39V | Missense | 3/14 | - | 1 |
1-156616618-C-A | c.117C>A | p.I39= | Synonymous | 3/14 | - | 1 |
1-156616618-C-T | c.117C>T | p.I39= | Synonymous | 3/14 | - | 2 |
1-156616619-G-A | c.118G>A | p.A40T | Missense | 3/14 | - | 1 |
1-156616621-G-A | c.120G>A | p.A40= | Synonymous | 3/14 | - | 1 |
1-156616621-G-C | c.120G>C | p.A40= | Synonymous | 3/14 | - | 1 |
1-156616621-G-T | c.120G>T | p.A40= | Synonymous | 3/14 | - | 1 |
1-156616629-C-T | c.128C>T | p.A43V | Missense | 3/14 | - | 3 |
1-156616630-G-A | c.129G>A | p.A43= | Synonymous | 3/14 | - | 3 |
1-156616630-G-C | c.129G>C | p.A43= | Synonymous | 3/14 | - | 1 |
1-156616630-G-T | c.129G>T | p.A43= | Synonymous | 3/14 | - | 1 |
1-156616634-C-A | c.133C>A | p.L45M | Missense | 3/14 | - | 1 |
1-156616634-C-T | c.133C>T | p.L45= | Synonymous | 3/14 | - | 1 |
1-156616637-C-A | c.136C>A | p.Q46K | Missense | 3/14 | - | 2 |
1-156616637-C-T | c.136C>T | p.Q46* | Nonsense | 3/14 | - | 2 |
1-156616639-G-A | c.138G>A | p.Q46= | Synonymous | 3/14 | - | 1 |
1-156616643-G-A | c.142G>A | p.V48M | Missense | 3/14 | - | 1 |
1-156616647-T-A | c.146T>A | p.L49H | Missense | 3/14 | - | 1 |
1-156616648-C-A | c.147C>A | p.L49= | Synonymous | 3/14 | - | 1 |
1-156616648-C-G | c.147C>G | p.L49= | Synonymous | 3/14 | - | 1 |
1-156616648-C-T | c.147C>T | p.L49= | Synonymous | 3/14 | - | 1 |
1-156616649-G-A | c.148G>A | p.G50S | Missense | 3/14 | - | 1 |
1-156616651-C-A | c.150C>A | p.G50= | Synonymous | 3/14 | - | 2 |
1-156616651-C-G | c.150C>G | p.G50= | Synonymous | 3/14 | - | 2 |
1-156616651-C-T | c.150C>T | p.G50= | Synonymous | 3/14 | - | 3 |
1-156616655-GCC-CAA | c.154_156delinsCAA | p.A52Q | Missense | 3/14 | - | 1 |
1-156616655-G-T | c.154G>T | p.A52S | Missense | 3/14 | - | 1 |
1-156616661-A-G | c.160A>G | p.T54A | Missense | 3/14 | - | 1 |
1-156616666-C-A | c.165C>A | p.I55= | Synonymous | 3/14 | - | 2 |
1-156616667-C-A | c.166C>A | p.P56T | Missense | 3/14 | - | 1 |
1-156616668-C-T | c.167C>T | p.P56L | Missense | 3/14 | - | 1 |
1-156616671-G-C | c.170G>C | p.C57S | Missense | 3/14 | - | 1 |
1-156616672-C-G | c.171C>G | p.C57W | Missense | 3/14 | - | 1 |
1-156616673-C-A | c.172C>A | p.H58N | Missense | 3/14 | - | 1 |
1-156616673-C-T | c.172C>T | p.H58Y | Missense | 3/14 | - | 1 |
1-156616676-G-T | c.175G>T | p.V59F | Missense | 3/14 | - | 1 |
1-156616680-A-T | c.179A>T | p.H60L | Missense | 3/14 | - | 1 |
1-156616682-T-A | c.181T>A | p.Y61N | Missense | 3/14 | - | 1 |
1-156616689-G-A | c.188G>A | p.R63Q | Missense | 3/14 | - | 1 |
1-156616689-GG-AT | c.188_189delinsAT | p.R63H | Missense | 3/14 | - | 1 |
1-156616692-C-A | c.191C>A | p.P64Q | Missense | 3/14 | - | 1 |
1-156616692-C-G | c.191C>G | p.P64R | Missense | 3/14 | - | 1 |
1-156616692-C-T | c.191C>T | p.P64L | Missense | 3/14 | - | 1 |
1-156616697-C-G | c.196C>G | p.P66A | Missense | 3/14 | - | 1 |
1-156616697-C-T | c.196C>T | p.P66S | Missense | 3/14 | - | 1 |
1-156616698-C-T | c.197C>T | p.P66L | Missense | 3/14 | - | 1 |
1-156616699-G-A | c.198G>A | p.P66= | Synonymous | 3/14 | - | 1 |
1-156616701-G-A | c.200G>A | p.S67N | Missense | 3/14 | - | 1 |
1-156616705-C-T | c.204C>T | p.R68= | Synonymous | 3/14 | - | 2 |
1-156616710-C-G | c.209C>G | p.A70G | Missense | 3/14 | - | 1 |
1-156616720-C-T | c.219C>T | p.G73= | Synonymous | 3/14 | - | 1 |
1-156616722-C-T | c.221C>T | p.S74F | Missense | 3/14 | - | 1 |
1-156616725-C-T | c.224C>T | p.P75L | Missense | 3/14 | - | 5 |
1-156616727-C-T | c.226C>T | p.R76W | Missense | 3/14 | - | 1 |
1-156616738-G-T | c.237G>T | p.W79C | Missense | 3/14 | - | 1 |
1-156616741-T-G | c.240T>G | p.T80= | Synonymous | 3/14 | - | 1 |
1-156616744-C-T | c.243C>T | p.F81= | Synonymous | 3/14 | - | 1 |
1-156616747-G-T | c.246G>T | p.L82= | Synonymous | 3/14 | - | 2 |
1-156616752-G-A | c.251G>A | p.R84Q | Missense | 3/14 | - | 2 |
1-156616754-GGC-TGA | c.253_255delinsTGA | p.G85* | Nonsense | 3/14 | - | 1 |
1-156616751-CG-C | c.254del | p.G85Afs*16 | Frameshift | 3/14 | - | 1 |
1-156616757-C-G | c.256C>G | p.R86G | Missense | 3/14 | - | 1 |
1-156616757-C-T | c.256C>T | p.R86W | Missense | 3/14 | - | 1 |
1-156616758-G-A | c.257G>A | p.R86Q | Missense | 3/14 | - | 1 |
1-156616758-G-C | c.257G>C | p.R86P | Missense | 3/14 | - | 1 |
1-156616758-G-T | c.257G>T | p.R86L | Missense | 3/14 | - | 1 |
1-156616762-G-C | c.261G>C | p.E87D | Missense | 3/14 | - | 2 |
1-156616762-G-T | c.261G>T | p.E87D | Missense | 3/14 | - | 3 |
1-156616763-G-T | c.262G>T | p.A88S | Missense | 3/14 | - | 4 |
1-156616764-C-A | c.263C>A | p.A88E | Missense | 3/14 | - | 1 |
1-156616769-G-A | c.268G>A | p.V90M | Missense | 3/14 | - | 1 |
1-156616773-T-C | c.272T>C | p.L91P | Missense | 3/14 | - | 1 |
1-156616780-GCGGGGAGTGCGCGT-G | c.281_294del | p.R94Qfs*40 | Frameshift | 3/14 | - | 1 |
1-156616785-G-A | c.284G>A | p.G95E | Missense | 3/14 | - | 2 |
1-156616786-A-C | c.285A>C | p.G95= | Synonymous | 3/14 | - | 1 |
1-156616786-A-G | c.285A>G | p.G95= | Synonymous | 3/14 | - | 1 |
1-156616786-A-T | c.285A>T | p.G95= | Synonymous | 3/14 | - | 1 |
1-156616788-T-C | c.287T>C | p.V96A | Missense | 3/14 | - | 1 |
1-156616790-CGC-TGG | c.289_291delinsTGG | p.R97W | Missense | 3/14 | - | 1 |
1-156616790-C-T | c.289C>T | p.R97C | Missense | 3/14 | - | 1 |
1-156616791-G-A | c.290G>A | p.R97H | Missense | 3/14 | - | 1 |
1-156616793-G-A | c.292G>A | p.V98I | Missense | 3/14 | - | 1 |
1-156616796-A-G | c.295A>G | p.K99E | Missense | 3/14 | - | 1 |
1-156616798-G-A | c.297G>A | p.K99= | Synonymous | 3/14 | - | 1 |
1-156616801-G-A | c.300G>A | p.V100= | Synonymous | 3/14 | - | 2 |
1-156616805-G-T | c.304G>T | p.E102* | Nonsense | 3/14 | - | 1 |
1-156616807-G-T | c.306G>T | p.E102D | Missense | 3/14 | - | 1 |
1-156616809-C-A | c.308C>A | p.A103D | Missense | 3/14 | - | 1 |
1-156616811-T-C | c.310T>C | p.Y104H | Missense | 3/14 | - | 1 |
1-156616813-C-A | c.312C>A | p.Y104* | Nonsense | 3/14 | - | 2 |
1-156616813-C-G | c.312C>G | p.Y104* | Nonsense | 3/14 | - | 3 |
1-156616814-C-G | c.313C>G | p.R105G | Missense | 3/14 | - | 14 |
1-156616815-G-A | c.314G>A | p.R105Q | Missense | 3/14 | - | 1 |
1-156616819-C-A | c.318C>A | p.F106L | Missense | 3/14 | - | 1 |
1-156616819-C-T | c.318C>T | p.F106= | Synonymous | 3/14 | - | 2 |
1-156616821-G-A | c.320G>A | p.R107H | Missense | 3/14 | - | 6 |
1-156616833-C-T | c.332C>T | p.P111L | Missense | 3/14 | - | 1 |
1-156616836-C-T | c.335C>T | p.A112V | Missense | 3/14 | - | 1 |
1-156616837-G-A | c.336G>A | p.A112= | Synonymous | 3/14 | - | 2 |
1-156616837-G-C | c.336G>C | p.A112= | Synonymous | 3/14 | - | 1 |
1-156616837-G-T | c.336G>T | p.A112= | Synonymous | 3/14 | - | 1 |
1-156616840-C-T | c.339C>T | p.Y113= | Synonymous | 3/14 | - | 1 |
1-156616841-C-T | c.340C>T | p.P114S | Missense | 3/14 | - | 3 |
1-156616845-C-T | c.344C>T | p.A115V | Missense | 3/14 | - | 4 |
1-156616846-G-A | c.345G>A | p.A115= | Synonymous | 3/14 | - | 3 |
1-156616846-G-C | c.345G>C | p.A115= | Synonymous | 3/14 | - | 1 |
1-156616846-G-T | c.345G>T | p.A115= | Synonymous | 3/14 | - | 1 |
1-156616848-C-T | c.347C>T | p.S116L | Missense | 3/14 | - | 1 |
1-156616852-C-A | c.351C>A | p.L117= | Synonymous | 3/14 | - | 2 |
1-156616852-C-G | c.351C>G | p.L117= | Synonymous | 3/14 | - | 1 |
1-156616852-C-T | c.351C>T | p.L117= | Synonymous | 3/14 | - | 1 |
1-156616856-G-A | c.355G>A | p.D119N | Missense | 3/14 | - | 3 |
1-156616859-G-A | c.358G>A | p.V120I | Missense | 3/14 | - | 1 |
1-156616868-G-C | c.367G>C | p.A123P | Missense | 3/14 | - | 2 |
1-156616868-G-T | c.367G>T | p.A123S | Missense | 3/14 | - | 1 |
1-156616869-CG-AC | c.368_369delinsAC | p.A123D | Missense | 3/14 | - | 1 |
1-156616869-C-T | c.368C>T | p.A123V | Missense | 3/14 | - | 1 |
1-156616870-G-A | c.369G>A | p.A123= | Synonymous | 3/14 | - | 3 |
1-156616870-G-C | c.369G>C | p.A123= | Synonymous | 3/14 | - | 2 |
1-156616870-G-T | c.369G>T | p.A123= | Synonymous | 3/14 | - | 2 |
1-156616873-G-A | c.372G>A | p.L124= | Synonymous | 3/14 | - | 2 |
1-156616877-G-A | c.376G>A | p.E126K | Missense | 3/14 | - | 1 |
1-156616877-G-C | c.376G>C | p.E126Q | Missense | 3/14 | - | 1 |
1-156616883-C-T | c.382C>T | p.R128C | Missense | 3/14 | - | 1 |
1-156616884-G-A | c.383G>A | p.R128H | Missense | 3/14 | - | 2 |
1-156616886-C-T | c.385C>T | p.P129S | Missense | 3/14 | - | 1 |
1-156616887-C-T | c.386C>T | p.P129L | Missense | 3/14 | - | 4 |
1-156616891-C-T | c.390C>T | p.N130= | Synonymous | 3/14 | - | 4 |
1-156616896-C-T | c.395C>T | p.S132L | Missense | 3/14 | - | 1 |
1-156616898-G-A | c.397G>A | p.G133S | Missense | 3/14 | - | 1 |
1-156616899-G-T | c.398G>T | p.G133V | Missense | 3/14 | - | 1 |
1-156616902-T-C | c.401T>C | p.I134T | Missense | 3/14 | - | 1 |
1-156616903-C-G | c.402C>G | p.I134M | Missense | 3/14 | - | 1 |
1-156616907-C-T | c.406C>T | p.R136C | Missense | 3/14 | - | 3 |
1-156616916-G-C | c.415G>C | p.V139L | Missense | 3/14 | - | 1 |
1-156616919-C-A | c.418C>A | p.Q140K | Missense | 3/14 | - | 1 |
1-156616919-C-G | c.418C>G | p.Q140E | Missense | 3/14 | - | 1 |
1-156616921-G-T | c.420G>T | p.Q140H | Missense | 3/14 | - | 1 |
1-156616924-C-T | c.423C>T | p.H141= | Synonymous | 3/14 | - | 3 |
1-156616926-G-A | c.425G>A | p.G142D | Missense | 3/14 | - | 1 |
1-156616930-C-A | c.429C>A | p.I143= | Synonymous | 3/14 | - | 3 |
1-156616930-C-T | c.429C>T | p.I143= | Synonymous | 3/14 | - | 4 |
1-156616931-G-A | c.430G>A | p.D144N | Missense | 3/14 | - | 1 |
1-156616931-G-T | c.430G>T | p.D144Y | Missense | 3/14 | - | 1 |
1-156616932-A-G | c.431A>G | p.D144G | Missense | 3/14 | - | 1 |
1-156616934-G-C | c.433G>C | p.D145H | Missense | 3/14 | - | 1 |
1-156616935-A-G | c.434A>G | p.D145G | Missense | 3/14 | - | 1 |
1-156616940-A-T | c.439A>T | p.S147C | Missense | 3/14 | - | 1 |
1-156616942-C-G | c.441C>G | p.S147R | Missense | 3/14 | - | 1 |
1-156616942-C-T | c.441C>T | p.S147= | Synonymous | 3/14 | - | 1 |
1-156616943-G-A | c.442G>A | p.D148N | Missense | 3/14 | - | 3 |
1-156616945-C-T | c.444C>T | p.D148= | Synonymous | 3/14 | - | 1 |
1-156616950-T-A | c.449T>A | p.V150E | Missense | 3/14 | - | 1 |
1-156616950-T-G | c.449T>G | p.V150G | Missense | 3/14 | - | 1 |
1-156616953-A-T | c.452A>T | p.E151V | Missense | 3/14 | - | 1 |
1-156616955-GTC-ATG | c.454_456delinsATG | p.V152M | Missense | 3/14 | - | 1 |
1-156616959-A-G | c.458A>G | p.K153R | Missense | 3/14 | - | 1 |
1-156616961-G-T | c.460G>T | p.V154F | Missense | 3/14 | - | 1 |
1-156616967-G-A | c.466G>A | p.G156R | Missense | 3/14 | - | 1 |
1-156616967-G-C | c.466G>C | p.G156R | Missense | 3/14 | - | 1 |
1-156616967-G-T | c.466G>T | p.G156W | Missense | 3/14 | - | 2 |
1-156617302-G-T | c.469G>T | p.V157F | Missense | 4/14 | - | 1 |
1-156617308-T-A | c.475T>A | p.F159I | Missense | 4/14 | - | 1 |
1-156617315-TA-T | c.482del | p.Y161Sfs*53 | Frameshift | 4/14 | - | 1 |
1-156617317-CGA-TGG | c.484_486delinsTGG | p.R162W | Missense | 4/14 | - | 1 |
1-156617318-G-A | c.485G>A | p.R162Q | Missense | 4/14 | - | 3 |
1-156617321-A-G | c.488A>G | p.E163G | Missense | 4/14 | - | 1 |
1-156617324-G-A | c.491G>A | p.G164D | Missense | 4/14 | - | 1 |
1-156617327-C-T | c.494C>T | p.S165F | Missense | 4/14 | - | 1 |
1-156617329-G-T | c.496G>T | p.A166S | Missense | 4/14 | - | 2 |
1-156617330-C-T | c.497C>T | p.A166V | Missense | 4/14 | - | 1 |
1-156617331-C-A | c.498C>A | p.A166= | Synonymous | 4/14 | - | 2 |
1-156617331-C-G | c.498C>G | p.A166= | Synonymous | 4/14 | - | 2 |
1-156617331-C-T | c.498C>T | p.A166= | Synonymous | 4/14 | - | 3 |
1-156617332-C-T | c.499C>T | p.R167C | Missense | 4/14 | - | 3 |
1-156617333-G-A | c.500G>A | p.R167H | Missense | 4/14 | - | 1 |
1-156617333-GC-AA | c.500_501delinsAA | p.R167Q | Missense | 4/14 | - | 1 |
1-156617345-CC-TT | c.512_513delinsTT | p.S171F | Missense | 4/14 | - | 1 |
1-156617345-C-T | c.512C>T | p.S171F | Missense | 4/14 | - | 3 |
1-156617351-C-T | c.518C>T | p.S173F | Missense | 4/14 | - | 1 |
1-156617352-T-G | c.519T>G | p.S173= | Synonymous | 4/14 | - | 2 |
1-156617353-G-C | c.520G>C | p.G174R | Missense | 4/14 | - | 1 |
1-156617354-G-A | c.521G>A | p.G174E | Missense | 4/14 | - | 1 |
1-156617355-G-A | c.522G>A | p.G174= | Synonymous | 4/14 | - | 2 |
1-156617355-G-C | c.522G>C | p.G174= | Synonymous | 4/14 | - | 1 |
1-156617355-G-T | c.522G>T | p.G174= | Synonymous | 4/14 | - | 1 |
1-156617362-G-A | c.529G>A | p.E177K | Missense | 4/14 | - | 1 |
1-156617369-G-A | c.536G>A | p.C179Y | Missense | 4/14 | - | 1 |
1-156617370-T-G | c.537T>G | p.C179W | Missense | 4/14 | - | 1 |
1-156617372-C-G | c.539C>G | p.A180G | Missense | 4/14 | - | 2 |
1-156617373-C-A | c.540C>A | p.A180= | Synonymous | 4/14 | - | 1 |
1-156617373-C-G | c.540C>G | p.A180= | Synonymous | 4/14 | - | 1 |
1-156617373-C-T | c.540C>T | p.A180= | Synonymous | 4/14 | - | 3 |
1-156617375-G-A | c.542G>A | p.R181H | Missense | 4/14 | - | 1 |
1-156617377-A-G | c.544A>G | p.I182V | Missense | 4/14 | - | 1 |
1-156617378-T-G | c.545T>G | p.I182S | Missense | 4/14 | - | 2 |
1-156617381-G-A | c.548G>A | p.G183E | Missense | 4/14 | - | 1 |
1-156617381-G-C | c.548G>C | p.G183A | Missense | 4/14 | - | 1 |
1-156617384-C-T | c.551C>T | p.A184V | Missense | 4/14 | - | 1 |
1-156617386-C-T | c.553C>T | p.H185Y | Missense | 4/14 | - | 1 |
1-156617387-A-G | c.554A>G | p.H185R | Missense | 4/14 | - | 1 |
1-156617391-C-T | c.558C>T | p.I186= | Synonymous | 4/14 | - | 1 |
1-156617392-G-A | c.559G>A | p.A187T | Missense | 4/14 | - | 1 |
1-156617398-C-A | c.565C>A | p.P189T | Missense | 4/14 | - | 1 |
1-156617398-CC-AA | c.565_566delinsAA | p.P189K | Missense | 4/14 | - | 1 |
1-156617400-G-A | c.567G>A | p.P189= | Synonymous | 4/14 | - | 4 |
1-156617401-G-A | c.568G>A | p.E190K | Missense | 4/14 | - | 1 |
1-156617403-G-T | c.570G>T | p.E190D | Missense | 4/14 | - | 1 |
1-156617404-C-T | c.571C>T | p.Q191* | Nonsense | 4/14 | - | 2 |
1-156617413-G-A | c.580G>A | p.A194T | Missense | 4/14 | - | 2 |
1-156617414-C-A | c.581C>A | p.A194D | Missense | 4/14 | - | 1 |
1-156617414-CC-GA | c.581_582delinsGA | p.A194G | Missense | 4/14 | - | 1 |
1-156617414-C-G | c.581C>G | p.A194G | Missense | 4/14 | - | 3 |
1-156617414-C-T | c.581C>T | p.A194V | Missense | 4/14 | - | 2 |
1-156617415-C-T | c.582C>T | p.A194= | Synonymous | 4/14 | - | 1 |
1-156617416-G-A | c.583G>A | p.A195T | Missense | 4/14 | - | 5 |
1-156617417-C-T | c.584C>T | p.A195V | Missense | 4/14 | - | 1 |
1-156617421-C-T | c.588C>T | p.Y196= | Synonymous | 4/14 | - | 2 |
1-156617423-T-A | c.590T>A | p.L197H | Missense | 4/14 | - | 4 |
1-156617426-G-A | c.593G>A | p.G198E | Missense | 4/14 | - | 3 |
1-156617431-T-A | c.598T>A | p.Y200N | Missense | 4/14 | - | 2 |
1-156617441-G-A | c.608G>A | p.C203Y | Missense | 4/14 | - | 1 |
1-156617443-G-C | c.610G>C | p.D204H | Missense | 4/14 | - | 2 |
1-156617446-G-A | c.613G>A | p.A205T | Missense | 4/14 | - | 1 |
1-156617450-G-A | c.617G>A | p.G206D | Missense | 4/14 | - | 3 |
1-156617450-G-T | c.617G>T | p.G206V | Missense | 4/14 | - | 4 |
1-156617455-C-T | c.622C>T | p.L208= | Synonymous | 4/14 | - | 1 |
1-156617458-T-A | c.625T>A | p.S209T | Missense | 4/14 | - | 2 |
1-156617459-C-A | c.626C>A | p.S209* | Nonsense | 4/14 | - | 1 |
1-156617459-C-T | c.626C>T | p.S209L | Missense | 4/14 | - | 1 |
1-156617460-G-A | c.627G>A | p.S209= | Synonymous | 4/14 | - | 1 |
1-156617469-C-A | c.636C>A | p.T212= | Synonymous | 4/14 | - | 2 |
1-156617469-C-G | c.636C>G | p.T212= | Synonymous | 4/14 | - | 2 |
1-156617469-C-T | c.636C>T | p.T212= | Synonymous | 4/14 | - | 2 |
1-156617471-T-C | c.638T>C | p.V213A | Missense | 4/14 | - | 1 |
1-156617473-A-G | c.640A>G | p.R214G | Missense | 4/14 | - | 1 |
1-156617473-A-T | c.640A>T | p.R214W | Missense | 4/14 | - | 1 |
1-156617496-G-C | c.641+22G>C | - | IntronicSNV | - | 4/13 | 1 |
1-156617776-T-C | c.643T>C | p.Y215H | Missense | 5/14 | - | 1 |
1-156617781-C-A | c.648C>A | p.P216= | Synonymous | 5/14 | - | 1 |
1-156617781-C-G | c.648C>G | p.P216= | Synonymous | 5/14 | - | 1 |
1-156617781-C-T | c.648C>T | p.P216= | Synonymous | 5/14 | - | 1 |
1-156617790-C-A | c.657C>A | p.T219= | Synonymous | 5/14 | - | 1 |
1-156617794-C-A | c.661C>A | p.R221= | Synonymous | 5/14 | - | 2 |
1-156617796-A-C | c.663A>C | p.R221= | Synonymous | 5/14 | - | 2 |
1-156617796-A-G | c.663A>G | p.R221= | Synonymous | 5/14 | - | 3 |
1-156617796-A-T | c.663A>T | p.R221= | Synonymous | 5/14 | - | 2 |
1-156617798-GAGGCCTGT-G | c.665_672del | p.E222Vfs*20 | Frameshift | 5/14 | - | 1 |
1-156617802-C-A | c.669C>A | p.A223= | Synonymous | 5/14 | - | 1 |
1-156617802-C-G | c.669C>G | p.A223= | Synonymous | 5/14 | - | 2 |
1-156617802-C-T | c.669C>T | p.A223= | Synonymous | 5/14 | - | 1 |
1-156617806-T-C | c.673T>C | p.Y225H | Missense | 5/14 | - | 2 |
1-156617807-TACG-T | c.674_676del | p.Y225_G226delins* | MultiAAMissense | 5/14 | - | 1 |
1-156617808-C-T | c.675C>T | p.Y225= | Synonymous | 5/14 | - | 1 |
1-156617809-G-A | c.676G>A | p.G226R | Missense | 5/14 | - | 4 |
1-156617809-G-C | c.676G>C | p.G226R | Missense | 5/14 | - | 4 |
1-156617809-GG-AA | c.676_677delinsAA | p.G226K | Missense | 5/14 | - | 1 |
1-156617810-G-A | c.677G>A | p.G226E | Missense | 5/14 | - | 3 |
1-156617812-G-A | c.679G>A | p.D227N | Missense | 5/14 | - | 3 |
1-156617822-G-A | c.689G>A | p.G230D | Missense | 5/14 | - | 2 |
1-156617822-G-T | c.689G>T | p.G230V | Missense | 5/14 | - | 1 |
1-156617828-C-T | c.695C>T | p.P232L | Missense | 5/14 | - | 1 |
1-156617829-C-T | c.696C>T | p.P232= | Synonymous | 5/14 | - | 2 |
1-156617830-G-T | c.697G>T | p.G233W | Missense | 5/14 | - | 3 |
1-156617836-C-T | c.703C>T | p.R235W | Missense | 5/14 | - | 4 |
1-156617837-G-A | c.704G>A | p.R235Q | Missense | 5/14 | - | 7 |
1-156617840-A-C | c.707A>C | p.N236T | Missense | 5/14 | - | 1 |
1-156617840-A-G | c.707A>G | p.N236S | Missense | 5/14 | - | 1 |
1-156617840-A-T | c.707A>T | p.N236I | Missense | 5/14 | - | 1 |
1-156617858-C-T | c.725C>T | p.P242L | Missense | 5/14 | - | 1 |
1-156617860-G-T | c.727G>T | p.D243Y | Missense | 5/14 | - | 6 |
1-156617866-C-T | c.733C>T | p.L245F | Missense | 5/14 | - | 1 |
1-156617868-C-A | c.735C>A | p.L245= | Synonymous | 5/14 | - | 1 |
1-156617869-T-C | c.736T>C | p.Y246H | Missense | 5/14 | - | 1 |
1-156617872-G-C | c.739G>C | p.D247H | Missense | 5/14 | - | 3 |
1-156617878-T-G | c.745T>G | p.Y249D | Missense | 5/14 | - | 1 |
1-156617881-T-C | c.748T>C | p.C250R | Missense | 5/14 | - | 4 |
1-156617881-TG-AC | c.748_749delinsAC | p.C250T | Missense | 5/14 | - | 2 |
1-156617885-A-G | c.752A>G | p.Y251C | Missense | 5/14 | - | 2 |
1-156617893-G-C | c.760G>C | p.D254H | Missense | 5/14 | - | 1 |
1-156617896-C-T | c.763C>T | p.L255= | Synonymous | 5/14 | - | 1 |
1-156617897-T-C | c.764T>C | p.L255P | Missense | 5/14 | - | 1 |
1-156617968-G-A | c.769+66G>A | - | IntronicSNV | - | 5/13 | 7 |
1-156618360-G-C | c.770G>C | p.G257A | Missense | 6/14 | - | 2 |
1-156618362-G-C | c.772G>C | p.E258Q | Missense | 6/14 | - | 3 |
1-156618362-G-T | c.772G>T | p.E258* | Nonsense | 6/14 | - | 1 |
1-156618366-T-G | c.776T>G | p.L259R | Missense | 6/14 | - | 2 |
1-156618367-G-T | c.777G>T | p.L259= | Synonymous | 6/14 | - | 2 |
1-156618372-T-A | c.782T>A | p.L261Q | Missense | 6/14 | - | 1 |
1-156618373-G-A | c.783G>A | p.L261= | Synonymous | 6/14 | - | 1 |
1-156618374-G-T | c.784G>T | p.G262C | Missense | 6/14 | - | 3 |
1-156618380-C-T | c.790C>T | p.P264S | Missense | 6/14 | - | 2 |
1-156618381-C-A | c.791C>A | p.P264H | Missense | 6/14 | - | 1 |
1-156618384-C-A | c.794C>A | p.P265Q | Missense | 6/14 | - | 1 |
1-156618386-G-C | c.796G>C | p.E266Q | Missense | 6/14 | - | 1 |
1-156618389-A-G | c.799A>G | p.K267E | Missense | 6/14 | - | 1 |
1-156618391-G-A | c.801G>A | p.K267= | Synonymous | 6/14 | - | 2 |
1-156618393-T-A | c.803T>A | p.L268Q | Missense | 6/14 | - | 1 |
1-156618396-C-A | c.806C>A | p.T269K | Missense | 6/14 | - | 1 |
1-156618396-C-T | c.806C>T | p.T269I | Missense | 6/14 | - | 1 |
1-156618399-T-A | c.809T>A | p.L270* | Nonsense | 6/14 | - | 1 |
1-156618404-G-A | c.814G>A | p.E272K | Missense | 6/14 | - | 3 |
1-156618406-A-C | c.816A>C | p.E272D | Missense | 6/14 | - | 2 |
1-156618407-G-A | c.817G>A | p.A273T | Missense | 6/14 | - | 3 |
1-156618410-C-T | c.820C>T | p.R274W | Missense | 6/14 | - | 2 |
1-156618411-G-A | c.821G>A | p.R274Q | Missense | 6/14 | - | 3 |
1-156618414-C-T | c.824C>T | p.A275V | Missense | 6/14 | - | 5 |
1-156618415-G-A | c.825G>A | p.A275= | Synonymous | 6/14 | - | 3 |
1-156618415-G-C | c.825G>C | p.A275= | Synonymous | 6/14 | - | 1 |
1-156618415-G-T | c.825G>T | p.A275= | Synonymous | 6/14 | - | 1 |
1-156618424-G-A | c.834G>A | p.Q278= | Synonymous | 6/14 | - | 2 |
1-156618425-G-A | c.835G>A | p.E279K | Missense | 6/14 | - | 6 |
1-156618428-C-T | c.838C>T | p.R280W | Missense | 6/14 | - | 5 |
1-156618429-G-A | c.839G>A | p.R280Q | Missense | 6/14 | - | 1 |
1-156618432-G-A | c.842G>A | p.G281D | Missense | 6/14 | - | 1 |
1-156618434-G-A | c.844G>A | p.A282T | Missense | 6/14 | - | 1 |
1-156618441-T-C | c.851T>C | p.I284T | Missense | 6/14 | - | 1 |
1-156618443-G-A | c.853G>A | p.A285T | Missense | 6/14 | - | 1 |
1-156618444-C-T | c.854C>T | p.A285V | Missense | 6/14 | - | 1 |
1-156618448-C-G | c.858C>G | p.T286= | Synonymous | 6/14 | - | 2 |
1-156618451-G-A | c.861G>A | p.T287= | Synonymous | 6/14 | - | 2 |
1-156618451-G-C | c.861G>C | p.T287= | Synonymous | 6/14 | - | 1 |
1-156618451-G-T | c.861G>T | p.T287= | Synonymous | 6/14 | - | 1 |
1-156618452-G-A | c.862G>A | p.G288S | Missense | 6/14 | - | 1 |
1-156618453-G-A | c.863G>A | p.G288D | Missense | 6/14 | - | 3 |
1-156618458-C-T | c.868C>T | p.L290= | Synonymous | 6/14 | - | 1 |
1-156618471-G-A | c.881G>A | p.W294* | Nonsense | 6/14 | - | 1 |
1-156618475-T-A | c.885T>A | p.D295E | Missense | 6/14 | - | 1 |
1-156618475-T-G | c.885T>G | p.D295E | Missense | 6/14 | - | 2 |
1-156618480-G-A | c.890G>A | p.G297D | Missense | 6/14 | - | 1 |
1-156618485-G-A | c.895G>A | p.D299N | Missense | 6/14 | - | 1 |
1-156618489-A-G | c.899A>G | p.H300R | Missense | 6/14 | - | 1 |
1-156618494-A-G | c.904A>G | p.S302G | Missense | 6/14 | - | 1 |
1-156618495-G-T | c.905G>T | p.S302I | Missense | 6/14 | - | 1 |
1-156618497-C-T | c.907C>T | p.P303S | Missense | 6/14 | - | 1 |
1-156618499-A-C | c.909A>C | p.P303= | Synonymous | 6/14 | - | 3 |
1-156618499-A-G | c.909A>G | p.P303= | Synonymous | 6/14 | - | 3 |
1-156618499-A-T | c.909A>T | p.P303= | Synonymous | 6/14 | - | 3 |
1-156618501-G-A | c.911G>A | p.G304E | Missense | 6/14 | - | 1 |
1-156618504-G-C | c.914G>C | p.W305S | Missense | 6/14 | - | 1 |
1-156618505-G-T | c.915G>T | p.W305C | Missense | 6/14 | - | 1 |
1-156618506-CT-TA | c.916_917delinsTA | p.L306* | Nonsense | 6/14 | - | 1 |
1-156618506-GC-G | c.916del | p.L306* | Frameshift | 6/14 | - | 1 |
1-156618507-T-A | c.917T>A | p.L306Q | Missense | 6/14 | - | 1 |
1-156618509-G-A | c.919G>A | p.A307T | Missense | 6/14 | - | 1 |
1-156618515-G-A | c.925G>A | p.G309S | Missense | 6/14 | - | 1 |
1-156618515-G-T | c.925G>T | p.G309C | Missense | 6/14 | - | 1 |
1-156618524-C-A | c.934C>A | p.R312S | Missense | 6/14 | - | 1 |
1-156618524-C-T | c.934C>T | p.R312C | Missense | 6/14 | - | 1 |
1-156618525-G-A | c.935G>A | p.R312H | Missense | 6/14 | - | 2 |
1-156618531-C-A | c.941C>A | p.P314H | Missense | 6/14 | - | 1 |
1-156618536-G-A | c.946G>A | p.V316I | Missense | 6/14 | - | 3 |
1-156618537-T-G | c.947T>G | p.V316G | Missense | 6/14 | - | 1 |
1-156618544-C-T | c.954C>T | p.P318= | Synonymous | 6/14 | - | 1 |
1-156618548-C-CA | c.959dup | p.R321Afs*24 | Frameshift | 6/14 | - | 1 |
1-156618550-G-C | c.960G>C | p.Q320H | Missense | 6/14 | - | 1 |
1-156618551-C-T | c.961C>T | p.R321C | Missense | 6/14 | - | 2 |
1-156618552-G-A | c.962G>A | p.R321H | Missense | 6/14 | - | 3 |
1-156618565-C-A | c.975C>A | p.G325= | Synonymous | 6/14 | - | 2 |
1-156618565-C-G | c.975C>G | p.G325= | Synonymous | 6/14 | - | 2 |
1-156618565-C-T | c.975C>T | p.G325= | Synonymous | 6/14 | - | 2 |
1-156618577-C-T | c.987C>T | p.V329= | Synonymous | 6/14 | - | 1 |
1-156618580-G-A | c.990G>A | p.K330= | Synonymous | 6/14 | - | 1 |
1-156618580-G-C | c.990G>C | p.K330N | Missense | 6/14 | - | 3 |
1-156618580-G-T | c.990G>T | p.K330N | Missense | 6/14 | - | 1 |
1-156618584-C-G | c.994C>G | p.L332V | Missense | 6/14 | - | 1 |
1-156618592-C-T | c.1002C>T | p.L334= | Synonymous | 6/14 | - | 1 |
1-156618593-T-C | c.1003T>C | p.F335L | Missense | 6/14 | - | 1 |
1-156618595-C-A | c.1005C>A | p.F335L | Missense | 6/14 | - | 1 |
1-156618595-C-G | c.1005C>G | p.F335L | Missense | 6/14 | - | 1 |
1-156618595-C-T | c.1005C>T | p.F335= | Synonymous | 6/14 | - | 1 |
1-156618597-C-T | c.1007C>T | p.P336L | Missense | 6/14 | - | 1 |
1-156618606-C-T | c.1016C>T | p.T339I | Missense | 6/14 | - | 2 |
1-156618609-G-T | c.1019G>T | p.G340V | Missense | 6/14 | - | 1 |
1-156618614-C-T | c.1024C>T | p.P342S | Missense | 6/14 | - | 3 |
1-156618617-A-G | c.1027A>G | p.N343D | Missense | 6/14 | - | 1 |
1-156618621-A-C | c.1031A>C | p.K344T | Missense | 6/14 | - | 1 |
1-156618623-C-G | c.1033C>G | p.H345D | Missense | 6/14 | - | 1 |
1-156618623-C-T | c.1033C>T | p.H345Y | Missense | 6/14 | - | 5 |
1-156618627-G-T | c.1037G>T | p.S346I | Missense | 6/14 | - | 1 |
1-156618628-C-T | c.1038C>T | p.S346= | Synonymous | 6/14 | - | 1 |
1-156618629-C-A | c.1039C>A | p.R347S | Missense | 6/14 | - | 1 |
1-156618629-C-T | c.1039C>T | p.R347C | Missense | 6/14 | - | 2 |
1-156618630-G-A | c.1040G>A | p.R347H | Missense | 6/14 | - | 7 |
1-156618637-C-T | c.1047C>T | p.N349= | Synonymous | 6/14 | - | 2 |
1-156618638-G-A | c.1048G>A | p.V350I | Missense | 6/14 | - | 1 |
1-156618640-C-A | c.1050C>A | p.V350= | Synonymous | 6/14 | - | 3 |
1-156618640-C-G | c.1050C>G | p.V350= | Synonymous | 6/14 | - | 3 |
1-156618640-C-T | c.1050C>T | p.V350= | Synonymous | 6/14 | - | 3 |
1-156618649-C-T | c.1059C>T | p.F353= | Synonymous | 6/14 | - | 1 |
1-156618650-C-T | c.1060C>T | p.R354* | Nonsense | 6/14 | - | 1 |
1-156618653-G-T | c.1063G>T | p.D355Y | Missense | 6/14 | - | 1 |
1-156618679-G-A | c.1063+26G>A | - | IntronicSNV | - | 6/13 | 1 |
1-156618768-T-G | c.1063+115T>G | - | IntronicSNV | - | 6/13 | 7 |
1-156619624-GT-G | c.1063+975del | - | IntronicDeletion | - | 6/13 | 1 |
1-156621250-TC-AG | c.1066_1067delinsAG | p.S356R | Missense | 7/14 | - | 1 |
1-156621251-C-T | c.1067C>T | p.S356L | Missense | 7/14 | - | 3 |
1-156621252-G-A | c.1068G>A | p.S356= | Synonymous | 7/14 | - | 2 |
1-156621252-G-C | c.1068G>C | p.S356= | Synonymous | 7/14 | - | 2 |
1-156621252-G-T | c.1068G>T | p.S356= | Synonymous | 7/14 | - | 2 |
1-156621253-G-A | c.1069G>A | p.A357T | Missense | 7/14 | - | 1 |
1-156621258-G-C | c.1074G>C | p.Q358H | Missense | 7/14 | - | 1 |
1-156621258-G-T | c.1074G>T | p.Q358H | Missense | 7/14 | - | 1 |
1-156621263-C-G | c.1079C>G | p.S360C | Missense | 7/14 | - | 1 |
1-156621263-C-T | c.1079C>T | p.S360F | Missense | 7/14 | - | 3 |
1-156621265-G-A | c.1081G>A | p.A361T | Missense | 7/14 | - | 2 |
1-156621281-C-G | c.1097C>G | p.S366C | Missense | 7/14 | - | 1 |
1-156621282-C-A | c.1098C>A | p.S366= | Synonymous | 7/14 | - | 3 |
1-156621284-A-C | c.1100A>C | p.N367T | Missense | 7/14 | - | 1 |
1-156621286-C-A | c.1102C>A | p.P368T | Missense | 7/14 | - | 1 |
1-156621286-C-T | c.1102C>T | p.P368S | Missense | 7/14 | - | 4 |
1-156621289-G-A | c.1105G>A | p.A369T | Missense | 7/14 | - | 1 |
1-156621290-C-G | c.1106C>G | p.A369G | Missense | 7/14 | - | 3 |
1-156621292-T-A | c.1108T>A | p.S370T | Missense | 7/14 | - | 1 |
1-156621293-C-T | c.1109C>T | p.S370F | Missense | 7/14 | - | 1 |
1-156621276-GGCCTCCAACCCA-G | c.1110_1121del | p.N371_S374del | InFrameDeletion | 7/14 | - | 1 |
1-156621297-C-T | c.1113C>T | p.N371= | Synonymous | 7/14 | - | 1 |
1-156621298-C-T | c.1114C>T | p.P372S | Missense | 7/14 | - | 1 |
1-156621305-C-T | c.1121C>T | p.S374F | Missense | 7/14 | - | 2 |
1-156621307-G-C | c.1123G>C | p.D375H | Missense | 7/14 | - | 1 |
1-156621310-G-T | c.1126G>T | p.G376* | Nonsense | 7/14 | - | 1 |
1-156621313-C-T | c.1129C>T | p.L377= | Synonymous | 7/14 | - | 1 |
1-156621318-G-T | c.1134G>T | p.E378D | Missense | 7/14 | - | 1 |
1-156621319-G-A | c.1135G>A | p.A379T | Missense | 7/14 | - | 1 |
1-156621324-C-A | c.1140C>A | p.I380= | Synonymous | 7/14 | - | 4 |
1-156621324-C-T | c.1140C>T | p.I380= | Synonymous | 7/14 | - | 6 |
1-156621325-G-A | c.1141G>A | p.V381I | Missense | 7/14 | - | 1 |
1-156621332-T-G | c.1148T>G | p.V383G | Missense | 7/14 | - | 1 |
1-156621337-G-A | c.1153G>A | p.E385K | Missense | 7/14 | - | 1 |
1-156621338-A-T | c.1154A>T | p.E385V | Missense | 7/14 | - | 1 |
1-156621339-GA-TT | c.1155_1156delinsTT | p.E385_T386delinsDS | MultiAAMissense | 7/14 | - | 1 |
1-156621342-C-T | c.1158C>T | p.T386= | Synonymous | 7/14 | - | 1 |
1-156621345-G-C | c.1161G>C | p.L387= | Synonymous | 7/14 | - | 1 |
1-156621346-G-A | c.1162G>A | p.E388K | Missense | 7/14 | - | 1 |
1-156621352-C-T | c.1168C>T | p.L390= | Synonymous | 7/14 | - | 1 |
1-156621354-G-A | c.1170G>A | p.L390= | Synonymous | 7/14 | - | 1 |
1-156621354-G-C | c.1170G>C | p.L390= | Synonymous | 7/14 | - | 1 |
1-156621354-G-T | c.1170G>T | p.L390= | Synonymous | 7/14 | - | 2 |
1-156621358-C-T | c.1174C>T | p.L392= | Synonymous | 7/14 | - | 1 |
1-156621374-C-A | c.1190C>A | p.T397K | Missense | 7/14 | - | 1 |
1-156621374-C-T | c.1190C>T | p.T397I | Missense | 7/14 | - | 2 |
1-156621381-T-C | c.1197T>C | p.S399= | Synonymous | 7/14 | - | 1 |
1-156621382-G-A | c.1198G>A | p.E400K | Missense | 7/14 | - | 1 |
1-156621383-A-G | c.1199A>G | p.E400G | Missense | 7/14 | - | 1 |
1-156621386-C-T | c.1202C>T | p.S401F | Missense | 7/14 | - | 2 |
1-156621388-C-T | c.1204C>T | p.R402C | Missense | 7/14 | - | 1 |
1-156621399-C-G | c.1215C>G | p.I405M | Missense | 7/14 | - | 2 |
1-156621399-C-T | c.1215C>T | p.I405= | Synonymous | 7/14 | - | 3 |
1-156621404-CC-TT | c.1220_1221delinsTT | p.S407F | Missense | 7/14 | - | 1 |
1-156621404-C-T | c.1220C>T | p.S407F | Missense | 7/14 | - | 5 |
1-156621405-C-A | c.1221C>A | p.S407= | Synonymous | 7/14 | - | 1 |
1-156621405-C-G | c.1221C>G | p.S407= | Synonymous | 7/14 | - | 1 |
1-156621405-C-T | c.1221C>T | p.S407= | Synonymous | 7/14 | - | 3 |
1-156621409-C-T | c.1225C>T | p.P409S | Missense | 7/14 | - | 2 |
1-156621410-C-T | c.1226C>T | p.P409L | Missense | 7/14 | - | 2 |
1-156621414-C-G | c.1230C>G | p.I410M | Missense | 7/14 | - | 1 |
1-156621416-T-G | c.1232T>G | p.M411R | Missense | 7/14 | - | 1 |
1-156621423-C-T | c.1239C>T | p.D413= | Synonymous | 7/14 | - | 3 |
1-156621424-G-A | c.1240G>A | p.G414R | Missense | 7/14 | - | 1 |
1-156621424-G-T | c.1240G>T | p.G414* | Nonsense | 7/14 | - | 2 |
1-156621425-G-A | c.1241G>A | p.G414E | Missense | 7/14 | - | 1 |
1-156621425-G-T | c.1241G>T | p.G414V | Missense | 7/14 | - | 2 |
1-156621427-G-A | c.1243G>A | p.G415R | Missense | 7/14 | - | 1 |
1-156621427-G-C | c.1243G>C | p.G415R | Missense | 7/14 | - | 1 |
1-156621427-G-T | c.1243G>T | p.G415* | Nonsense | 7/14 | - | 1 |
1-156621430-G-T | c.1246G>T | p.G416C | Missense | 7/14 | - | 1 |
1-156621437-G-A | c.1253G>A | p.S418N | Missense | 7/14 | - | 1 |
1-156621440-C-A | c.1256C>A | p.S419Y | Missense | 7/14 | - | 1 |
1-156621440-C-G | c.1256C>G | p.S419C | Missense | 7/14 | - | 4 |
1-156621440-C-T | c.1256C>T | p.S419F | Missense | 7/14 | - | 1 |
1-156621450-A-C | c.1266A>C | p.E422D | Missense | 7/14 | - | 1 |
1-156621450-A-T | c.1266A>T | p.E422D | Missense | 7/14 | - | 1 |
1-156621456-A-T | c.1272A>T | p.P424= | Synonymous | 7/14 | - | 2 |
1-156621457-G-T | c.1273G>T | p.A425S | Missense | 7/14 | - | 1 |
1-156621460-G-A | c.1276G>A | p.E426K | Missense | 7/14 | - | 5 |
1-156621466-C-T | c.1282C>T | p.P428S | Missense | 7/14 | - | 2 |
1-156621469-A-G | c.1285A>G | p.R429G | Missense | 7/14 | - | 1 |
1-156621471-G-A | c.1287G>A | p.R429= | Synonymous | 7/14 | - | 2 |
1-156621472-A-G | c.1288A>G | p.T430A | Missense | 7/14 | - | 1 |
1-156621473-C-A | c.1289C>A | p.T430K | Missense | 7/14 | - | 1 |
1-156621473-C-T | c.1289C>T | p.T430M | Missense | 7/14 | - | 1 |
1-156621474-G-A | c.1290G>A | p.T430= | Synonymous | 7/14 | - | 3 |
1-156621474-G-C | c.1290G>C | p.T430= | Synonymous | 7/14 | - | 1 |
1-156621474-G-T | c.1290G>T | p.T430= | Synonymous | 7/14 | - | 1 |
1-156621478-C-A | c.1294C>A | p.L432I | Missense | 7/14 | - | 3 |
1-156621488-C-T | c.1297+7C>T | - | IntronicSNV | - | 7/13 | 1 |
1-156621532-G-A | c.1297+51G>A | - | IntronicSNV | - | 7/13 | 1 |
1-156621690-G-GC | c.1297+210dup | - | IntronicInsertion | - | 7/13 | 1 |
1-156622041-A-C | c.1299A>C | p.E433D | Missense | 8/14 | - | 1 |
1-156622041-A-T | c.1299A>T | p.E433D | Missense | 8/14 | - | 2 |
1-156622042-T-C | c.1300T>C | p.F434L | Missense | 8/14 | - | 1 |
1-156622044-T-A | c.1302T>A | p.F434L | Missense | 8/14 | - | 1 |
1-156622044-T-G | c.1302T>G | p.F434L | Missense | 8/14 | - | 1 |
1-156622044-T-C | c.1302T>C | p.F434= | Synonymous | 8/14 | - | 1 |
1-156622046-A-G | c.1304A>G | p.E435G | Missense | 8/14 | - | 1 |
1-156622052-A-C | c.1310A>C | p.Q437P | Missense | 8/14 | - | 1 |
1-156622055-C-G | c.1313C>G | p.S438C | Missense | 8/14 | - | 1 |
1-156622057-A-C | c.1315A>C | p.M439L | Missense | 8/14 | - | 1 |
1-156622057-A-T | c.1315A>T | p.M439L | Missense | 8/14 | - | 1 |
1-156622058-T-A | c.1316T>A | p.M439K | Missense | 8/14 | - | 1 |
1-156622059-G-A | c.1317G>A | p.M439I | Missense | 8/14 | - | 1 |
1-156622059-G-C | c.1317G>C | p.M439I | Missense | 8/14 | - | 1 |
1-156622059-G-T | c.1317G>T | p.M439I | Missense | 8/14 | - | 1 |
1-156622063-C-T | c.1321C>T | p.P441S | Missense | 8/14 | - | 1 |
1-156622064-C-G | c.1322C>G | p.P441R | Missense | 8/14 | - | 1 |
1-156622064-C-T | c.1322C>T | p.P441L | Missense | 8/14 | - | 1 |
1-156622070-C-A | c.1328C>A | p.T443K | Missense | 8/14 | - | 4 |
1-156622071-G-A | c.1329G>A | p.T443= | Synonymous | 8/14 | - | 1 |
1-156622071-G-C | c.1329G>C | p.T443= | Synonymous | 8/14 | - | 1 |
1-156622071-G-T | c.1329G>T | p.T443= | Synonymous | 8/14 | - | 1 |
1-156622075-T-C | c.1333T>C | p.F445L | Missense | 8/14 | - | 1 |
1-156622078-TC-AG | c.1336_1337delinsAG | p.S446R | Missense | 8/14 | - | 1 |
1-156622079-CA-GT | c.1337_1338delinsGT | p.S446C | Missense | 8/14 | - | 1 |
1-156622081-G-A | c.1339G>A | p.E447K | Missense | 8/14 | - | 2 |
1-156622102-G-A | c.1360G>A | p.E454K | Missense | 8/14 | - | 4 |
1-156622105-G-A | c.1363G>A | p.E455K | Missense | 8/14 | - | 2 |
1-156622106-A-G | c.1364A>G | p.E455G | Missense | 8/14 | - | 1 |
1-156622107-A-C | c.1365A>C | p.E455D | Missense | 8/14 | - | 1 |
1-156622108-G-A | c.1366G>A | p.E456K | Missense | 8/14 | - | 1 |
1-156622108-G-T | c.1366G>T | p.E456* | Nonsense | 8/14 | - | 1 |
1-156622115-A-T | c.1373A>T | p.K458I | Missense | 8/14 | - | 1 |
1-156622123-G-T | c.1381G>T | p.D461Y | Missense | 8/14 | - | 1 |
1-156622125-T-A | c.1383T>A | p.D461E | Missense | 8/14 | - | 1 |
1-156622125-T-G | c.1383T>G | p.D461E | Missense | 8/14 | - | 1 |
1-156622129-G-T | c.1387G>T | p.E463* | Nonsense | 8/14 | - | 1 |
1-156622135-A-C | c.1393A>C | p.K465Q | Missense | 8/14 | - | 1 |
1-156622135-A-T | c.1393A>T | p.K465* | Nonsense | 8/14 | - | 1 |
1-156622136-A-C | c.1394A>C | p.K465T | Missense | 8/14 | - | 1 |
1-156622140-G-C | c.1398G>C | p.E466D | Missense | 8/14 | - | 3 |
1-156622140-G-T | c.1398G>T | p.E466D | Missense | 8/14 | - | 2 |
1-156622144-G-A | c.1402G>A | p.E468K | Missense | 8/14 | - | 1 |
1-156622146-A-G | c.1404A>G | p.E468= | Synonymous | 8/14 | - | 1 |
1-156622147-G-C | c.1405G>C | p.E469Q | Missense | 8/14 | - | 1 |
1-156622156-G-A | c.1414G>A | p.E472K | Missense | 8/14 | - | 1 |
1-156622156-G-T | c.1414G>T | p.E472* | Nonsense | 8/14 | - | 1 |
1-156622159-G-T | c.1417G>T | p.E473* | Nonsense | 8/14 | - | 1 |
1-156622172-A-C | c.1430A>C | p.E477A | Missense | 8/14 | - | 2 |
1-156622177-CTG-TTT | c.1435_1437delinsTTT | p.L479F | Missense | 8/14 | - | 1 |
1-156622179-G-C | c.1437G>C | p.L479= | Synonymous | 8/14 | - | 1 |
1-156622189-C-T | c.1447C>T | p.P483S | Missense | 8/14 | - | 1 |
1-156622193-G-T | c.1451G>T | p.S484I | Missense | 8/14 | - | 1 |
1-156622194-C-T | c.1452C>T | p.S484= | Synonymous | 8/14 | - | 1 |
1-156622195-G-A | c.1453G>A | p.E485K | Missense | 8/14 | - | 2 |
1-156622202-G-T | c.1460G>T | p.S487I | Missense | 8/14 | - | 1 |
1-156622204-A-T | c.1462A>T | p.S488C | Missense | 8/14 | - | 1 |
1-156622208-C-T | c.1466C>T | p.P489L | Missense | 8/14 | - | 1 |
1-156622209-G-A | c.1467G>A | p.P489= | Synonymous | 8/14 | - | 1 |
1-156622209-G-C | c.1467G>C | p.P489= | Synonymous | 8/14 | - | 1 |
1-156622209-G-T | c.1467G>T | p.P489= | Synonymous | 8/14 | - | 1 |
1-156622210-G-A | c.1468G>A | p.G490S | Missense | 8/14 | - | 2 |
1-156622222-T-C | c.1480T>C | p.S494P | Missense | 8/14 | - | 1 |
1-156622223-C-T | c.1481C>T | p.S494F | Missense | 8/14 | - | 1 |
1-156622224-T-A | c.1482T>A | p.S494= | Synonymous | 8/14 | - | 2 |
1-156622220-CCT-C | c.1484_1485del | p.L495Pfs*3 | Frameshift | 8/14 | - | 1 |
1-156622230-C-A | c.1488C>A | p.P496= | Synonymous | 8/14 | - | 1 |
1-156622230-C-G | c.1488C>G | p.P496= | Synonymous | 8/14 | - | 2 |
1-156622230-C-T | c.1488C>T | p.P496= | Synonymous | 8/14 | - | 1 |
1-156622232-C-A | c.1490C>A | p.T497N | Missense | 8/14 | - | 1 |
1-156622234-G-A | c.1492G>A | p.E498K | Missense | 8/14 | - | 3 |
1-156622239-A-C | c.1497A>C | p.P499= | Synonymous | 8/14 | - | 1 |
1-156622239-A-G | c.1497A>G | p.P499= | Synonymous | 8/14 | - | 1 |
1-156622239-A-T | c.1497A>T | p.P499= | Synonymous | 8/14 | - | 1 |
1-156622246-C-T | c.1504C>T | p.Q502* | Nonsense | 8/14 | - | 3 |
1-156622251-G-A | c.1509G>A | p.E503= | Synonymous | 8/14 | - | 1 |
1-156622252-G-A | c.1510G>A | p.E504K | Missense | 8/14 | - | 34 |
1-156622252-G-C | c.1510G>C | p.E504Q | Missense | 8/14 | - | 9 |
1-156622252-G-T | c.1510G>T | p.E504* | Nonsense | 8/14 | - | 9 |
1-156622256-C-A | c.1514C>A | p.S505* | Nonsense | 8/14 | - | 1 |
1-156622256-C-G | c.1514C>G | p.S505* | Nonsense | 8/14 | - | 1 |
1-156622262-C-T | c.1520C>T | p.S507F | Missense | 8/14 | - | 2 |
1-156622268-C-T | c.1526C>T | p.A509V | Missense | 8/14 | - | 1 |
1-156622274-C-G | c.1532C>G | p.A511G | Missense | 8/14 | - | 2 |
1-156622280-C-T | c.1538C>T | p.A513V | Missense | 8/14 | - | 1 |
1-156622285-C-G | c.1543C>G | p.L515V | Missense | 8/14 | - | 1 |
1-156622285-C-T | c.1543C>T | p.L515= | Synonymous | 8/14 | - | 1 |
1-156622287-G-A | c.1545G>A | p.L515= | Synonymous | 8/14 | - | 1 |
1-156622287-G-C | c.1545G>C | p.L515= | Synonymous | 8/14 | - | 1 |
1-156622287-G-T | c.1545G>T | p.L515= | Synonymous | 8/14 | - | 1 |
1-156622288-C-T | c.1546C>T | p.Q516* | Nonsense | 8/14 | - | 1 |
1-156622303-C-T | c.1561C>T | p.P521S | Missense | 8/14 | - | 8 |
1-156622305-A-C | c.1563A>C | p.P521= | Synonymous | 8/14 | - | 1 |
1-156622305-A-G | c.1563A>G | p.P521= | Synonymous | 8/14 | - | 1 |
1-156622305-A-T | c.1563A>T | p.P521= | Synonymous | 8/14 | - | 3 |
1-156622306-C-T | c.1564C>T | p.L522F | Missense | 8/14 | - | 1 |
1-156622316-G-A | c.1574G>A | p.G525E | Missense | 8/14 | - | 2 |
1-156622339-C-T | c.1597C>T | p.P533S | Missense | 8/14 | - | 1 |
1-156622342-AG-CA | c.1600_1601delinsCA | p.R534Q | Missense | 8/14 | - | 1 |
1-156622342-A-T | c.1600A>T | p.R534W | Missense | 8/14 | - | 2 |
1-156622344-G-T | c.1602G>T | p.R534S | Missense | 8/14 | - | 1 |
1-156622345-GTC-ATG | c.1603_1605delinsATG | p.V535M | Missense | 8/14 | - | 1 |
1-156622347-C-A | c.1605C>A | p.V535= | Synonymous | 8/14 | - | 1 |
1-156622347-C-G | c.1605C>G | p.V535= | Synonymous | 8/14 | - | 1 |
1-156622354-C-G | c.1612C>G | p.P538A | Missense | 8/14 | - | 2 |
1-156622370-T-G | c.1628T>G | p.L543R | Missense | 8/14 | - | 1 |
1-156622378-C-T | c.1636C>T | p.P546S | Missense | 8/14 | - | 1 |
1-156622381-A-T | c.1639A>T | p.R547W | Missense | 8/14 | - | 1 |
1-156622382-G-A | c.1640G>A | p.R547K | Missense | 8/14 | - | 1 |
1-156622383-G-A | c.1641G>A | p.R547= | Synonymous | 8/14 | - | 1 |
1-156622384-G-A | c.1642G>A | p.E548K | Missense | 8/14 | - | 1 |
1-156622386-G-A | c.1644G>A | p.E548= | Synonymous | 8/14 | - | 1 |
1-156622393-C-T | c.1651C>T | p.L551= | Synonymous | 8/14 | - | 2 |
1-156622395-A-G | c.1653A>G | p.L551= | Synonymous | 8/14 | - | 1 |
1-156622402-C-G | c.1660C>G | p.P554A | Missense | 8/14 | - | 1 |
1-156622402-C-T | c.1660C>T | p.P554S | Missense | 8/14 | - | 2 |
1-156622404-A-G | c.1662A>G | p.P554= | Synonymous | 8/14 | - | 1 |
1-156622406-C-T | c.1664C>T | p.S555L | Missense | 8/14 | - | 1 |
1-156622408-C-G | c.1666C>G | p.P556A | Missense | 8/14 | - | 1 |
1-156622415-C-T | c.1673C>T | p.T558I | Missense | 8/14 | - | 1 |
1-156622417-CTG-TTT | c.1675_1677delinsTTT | p.L559F | Missense | 8/14 | - | 1 |
1-156622421-T-A | c.1679T>A | p.V560D | Missense | 8/14 | - | 1 |
1-156622435-G-C | c.1693G>C | p.V565L | Missense | 8/14 | - | 1 |
1-156622437-G-A | c.1695G>A | p.V565= | Synonymous | 8/14 | - | 1 |
1-156622439-GG-AC | c.1697_1698delinsAC | p.G566D | Missense | 8/14 | - | 1 |
1-156622440-G-A | c.1698G>A | p.G566= | Synonymous | 8/14 | - | 1 |
1-156622441-G-C | c.1699G>C | p.E567Q | Missense | 8/14 | - | 1 |
1-156622442-A-G | c.1700A>G | p.E567G | Missense | 8/14 | - | 1 |
1-156622453-G-A | c.1711G>A | p.G571S | Missense | 8/14 | - | 1 |
1-156622456-C-T | c.1714C>T | p.P572S | Missense | 8/14 | - | 1 |
1-156622462-C-T | c.1720C>T | p.L574= | Synonymous | 8/14 | - | 3 |
1-156622464-A-C | c.1722A>C | p.L574= | Synonymous | 8/14 | - | 2 |
1-156622464-A-G | c.1722A>G | p.L574= | Synonymous | 8/14 | - | 2 |
1-156622464-A-T | c.1722A>T | p.L574= | Synonymous | 8/14 | - | 2 |
1-156622466-C-A | c.1724C>A | p.S575Y | Missense | 8/14 | - | 1 |
1-156622468-GG-TA | c.1726_1727delinsTA | p.G576* | Nonsense | 8/14 | - | 1 |
1-156622473-C-T | c.1731C>T | p.V577= | Synonymous | 8/14 | - | 2 |
1-156622474-C-T | c.1732C>T | p.P578S | Missense | 8/14 | - | 2 |
1-156622477-CGA-TGT | c.1735_1737delinsTGT | p.R579C | Missense | 8/14 | - | 1 |
1-156622477-C-T | c.1735C>T | p.R579* | Nonsense | 8/14 | - | 1 |
1-156622478-G-A | c.1736G>A | p.R579Q | Missense | 8/14 | - | 4 |
1-156622486-A-T | c.1744A>T | p.S582C | Missense | 8/14 | - | 1 |
1-156622489-G-A | c.1747G>A | p.E583K | Missense | 8/14 | - | 1 |
1-156622495-A-G | c.1753A>G | p.T585A | Missense | 8/14 | - | 2 |
1-156622497-A-C | c.1755A>C | p.T585= | Synonymous | 8/14 | - | 1 |
1-156622497-A-G | c.1755A>G | p.T585= | Synonymous | 8/14 | - | 1 |
1-156622497-A-T | c.1755A>T | p.T585= | Synonymous | 8/14 | - | 1 |
1-156622498-G-T | c.1756G>T | p.G586* | Nonsense | 8/14 | - | 1 |
1-156622499-G-A | c.1757G>A | p.G586E | Missense | 8/14 | - | 3 |
1-156622502-G-A | c.1760G>A | p.S587N | Missense | 8/14 | - | 1 |
1-156622510-G-A | c.1768G>A | p.G590S | Missense | 8/14 | - | 2 |
1-156622513-G-T | c.1771G>T | p.A591S | Missense | 8/14 | - | 1 |
1-156622514-C-A | c.1772C>A | p.A591D | Missense | 8/14 | - | 3 |
1-156622514-C-T | c.1772C>T | p.A591V | Missense | 8/14 | - | 1 |
1-156622516-CC-TT | c.1774_1775delinsTT | p.P592F | Missense | 8/14 | - | 3 |
1-156622516-C-T | c.1774C>T | p.P592S | Missense | 8/14 | - | 1 |
1-156622517-C-A | c.1775C>A | p.P592H | Missense | 8/14 | - | 1 |
1-156622517-C-T | c.1775C>T | p.P592L | Missense | 8/14 | - | 2 |
1-156622522-C-T | c.1780C>T | p.L594= | Synonymous | 8/14 | - | 4 |
1-156622524-G-A | c.1782G>A | p.L594= | Synonymous | 8/14 | - | 1 |
1-156622524-G-C | c.1782G>C | p.L594= | Synonymous | 8/14 | - | 1 |
1-156622524-G-T | c.1782G>T | p.L594= | Synonymous | 8/14 | - | 1 |
1-156622525-C-A | c.1783C>A | p.L595I | Missense | 8/14 | - | 5 |
1-156622528-C-T | c.1786C>T | p.P596S | Missense | 8/14 | - | 2 |
1-156622537-C-A | c.1795C>A | p.R599= | Synonymous | 8/14 | - | 1 |
1-156622539-G-A | c.1797G>A | p.R599= | Synonymous | 8/14 | - | 1 |
1-156622539-G-C | c.1797G>C | p.R599= | Synonymous | 8/14 | - | 1 |
1-156622539-G-T | c.1797G>T | p.R599= | Synonymous | 8/14 | - | 1 |
1-156622538-G-A | c.1796G>A | p.R599Q | Missense | 8/14 | - | 1 |
1-156622538-G-T | c.1796G>T | p.R599L | Missense | 8/14 | - | 2 |
1-156622540-G-T | c.1798G>T | p.A600S | Missense | 8/14 | - | 7 |
1-156622541-C-G | c.1799C>G | p.A600G | Missense | 8/14 | - | 1 |
1-156622541-C-T | c.1799C>T | p.A600V | Missense | 8/14 | - | 2 |
1-156622544-C-G | c.1802C>G | p.P601R | Missense | 8/14 | - | 1 |
1-156622544-C-T | c.1802C>T | p.P601L | Missense | 8/14 | - | 1 |
1-156622549-G-T | c.1807G>T | p.G603C | Missense | 8/14 | - | 6 |
1-156622555-A-G | c.1813A>G | p.R605G | Missense | 8/14 | - | 2 |
1-156622556-G-A | c.1814G>A | p.R605K | Missense | 8/14 | - | 1 |
1-156622556-G-C | c.1814G>C | p.R605T | Missense | 8/14 | - | 1 |
1-156622555-A-C | c.1813A>C | p.R605= | Synonymous | 8/14 | - | 1 |
1-156622557-G-A | c.1815G>A | p.R605= | Synonymous | 8/14 | - | 2 |
1-156622558-G-A | c.1816G>A | p.E606K | Missense | 8/14 | - | 2 |
1-156622560-G-A | c.1818G>A | p.E606= | Synonymous | 8/14 | - | 1 |
1-156622561-C-T | c.1819C>T | p.L607= | Synonymous | 8/14 | - | 1 |
1-156622567-G-A | c.1825G>A | p.A609T | Missense | 8/14 | - | 1 |
1-156622570-C-A | c.1828C>A | p.P610T | Missense | 8/14 | - | 1 |
1-156622570-CC-TT | c.1828_1829delinsTT | p.P610F | Missense | 8/14 | - | 3 |
1-156622573-TC-CT | c.1831_1832delinsCT | p.S611L | Missense | 8/14 | - | 1 |
1-156622574-C-A | c.1832C>A | p.S611Y | Missense | 8/14 | - | 1 |
1-156622576-G-A | c.1834G>A | p.E612K | Missense | 8/14 | - | 2 |
1-156622582-A-G | c.1840A>G | p.N614D | Missense | 8/14 | - | 3 |
1-156622586-C-T | c.1844C>T | p.S615F | Missense | 8/14 | - | 3 |
1-156622591-AGA-CAT | c.1849_1851delinsCAT | p.R617H | Missense | 8/14 | - | 1 |
1-156622596-T-A | c.1854T>A | p.T618= | Synonymous | 8/14 | - | 1 |
1-156622596-T-C | c.1854T>C | p.T618= | Synonymous | 8/14 | - | 1 |
1-156622596-T-G | c.1854T>G | p.T618= | Synonymous | 8/14 | - | 1 |
1-156622598-C-T | c.1856C>T | p.A619V | Missense | 8/14 | - | 1 |
1-156622600-C-A | c.1858C>A | p.P620T | Missense | 8/14 | - | 6 |
1-156622606-G-A | c.1864G>A | p.G622R | Missense | 8/14 | - | 1 |
1-156622606-G-C | c.1864G>C | p.G622R | Missense | 8/14 | - | 1 |
1-156622610-C-A | c.1868C>A | p.T623N | Missense | 8/14 | - | 1 |
1-156622610-C-T | c.1868C>T | p.T623I | Missense | 8/14 | - | 1 |
1-156622617-G-A | c.1875G>A | p.V625= | Synonymous | 8/14 | - | 1 |
1-156622618-C-T | c.1876C>T | p.Q626* | Nonsense | 8/14 | - | 1 |
1-156622636-C-A | c.1894C>A | p.P632T | Missense | 8/14 | - | 2 |
1-156622640-C-T | c.1898C>T | p.T633I | Missense | 8/14 | - | 1 |
1-156622641-T-A | c.1899T>A | p.T633= | Synonymous | 8/14 | - | 1 |
1-156622641-T-C | c.1899T>C | p.T633= | Synonymous | 8/14 | - | 1 |
1-156622641-T-G | c.1899T>G | p.T633= | Synonymous | 8/14 | - | 1 |
1-156622648-G-A | c.1906G>A | p.A636T | Missense | 8/14 | - | 2 |
1-156622648-G-T | c.1906G>T | p.A636S | Missense | 8/14 | - | 1 |
1-156622650-C-T | c.1908C>T | p.A636= | Synonymous | 8/14 | - | 1 |
1-156622654-C-T | c.1912C>T | p.R638* | Nonsense | 8/14 | - | 2 |
1-156622655-G-A | c.1913G>A | p.R638Q | Missense | 8/14 | - | 1 |
1-156622655-G-T | c.1913G>T | p.R638L | Missense | 8/14 | - | 1 |
1-156622657-G-T | c.1915G>T | p.G639C | Missense | 8/14 | - | 1 |
1-156622658-G-A | c.1916G>A | p.G639D | Missense | 8/14 | - | 1 |
1-156622658-G-T | c.1916G>T | p.G639V | Missense | 8/14 | - | 2 |
1-156622659-T-A | c.1917T>A | p.G639= | Synonymous | 8/14 | - | 1 |
1-156622659-T-C | c.1917T>C | p.G639= | Synonymous | 8/14 | - | 2 |
1-156622659-T-G | c.1917T>G | p.G639= | Synonymous | 8/14 | - | 1 |
1-156622663-G-C | c.1921G>C | p.V641L | Missense | 8/14 | - | 1 |
1-156622663-G-T | c.1921G>T | p.V641L | Missense | 8/14 | - | 1 |
1-156622664-T-A | c.1922T>A | p.V641E | Missense | 8/14 | - | 3 |
1-156622668-C-A | c.1926C>A | p.A642= | Synonymous | 8/14 | - | 1 |
1-156622668-C-G | c.1926C>G | p.A642= | Synonymous | 8/14 | - | 1 |
1-156622668-C-T | c.1926C>T | p.A642= | Synonymous | 8/14 | - | 1 |
1-156622672-G-C | c.1930G>C | p.V644L | Missense | 8/14 | - | 1 |
1-156622675-C-G | c.1933C>G | p.P645A | Missense | 8/14 | - | 1 |
1-156622676-C-A | c.1934C>A | p.P645H | Missense | 8/14 | - | 1 |
1-156622673-TC-T | c.1935del | p.A646Hfs*210 | Frameshift | 8/14 | - | 1 |
1-156622677-C-A | c.1935C>A | p.P645= | Synonymous | 8/14 | - | 2 |
1-156622677-C-G | c.1935C>G | p.P645= | Synonymous | 8/14 | - | 1 |
1-156622677-C-T | c.1935C>T | p.P645= | Synonymous | 8/14 | - | 1 |
1-156622678-G-A | c.1936G>A | p.A646T | Missense | 8/14 | - | 3 |
1-156622678-G-C | c.1936G>C | p.A646P | Missense | 8/14 | - | 1 |
1-156622679-C-G | c.1937C>G | p.A646G | Missense | 8/14 | - | 1 |
1-156622682-C-T | c.1940C>T | p.S647L | Missense | 8/14 | - | 1 |
1-156622701-C-A | c.1942+17C>A | - | IntronicSNV | - | 8/13 | 1 |
1-156622705-A-G | c.1942+21A>G | - | IntronicSNV | - | 8/13 | 1 |
1-156622710-C-T | c.1942+26C>T | - | IntronicSNV | - | 8/13 | 1 |
1-156622711-C-A | c.1942+27C>A | - | IntronicSNV | - | 8/13 | 1 |
1-156622715-C-T | c.1942+31C>T | - | IntronicSNV | - | 8/13 | 1 |
1-156622732-T-G | c.1942+48T>G | - | IntronicSNV | - | 8/13 | 1 |
1-156622787-C-G | c.1942+103C>G | - | IntronicSNV | - | 8/13 | 1 |
1-156622882-C-A | c.1942+198C>A | - | IntronicSNV | - | 8/13 | 2 |
1-156622882-C-T | c.1942+198C>T | - | IntronicSNV | - | 8/13 | 1 |
1-156626050-G-A | c.1943-24G>A | - | IntronicSNV | - | 8/13 | 1 |
1-156626050-G-C | c.1943-24G>C | - | IntronicSNV | - | 8/13 | 1 |
1-156626074-G-T | c.1943G>T | p.G648V | Missense | 9/14 | - | 1 |
1-156626082-G-A | c.1951G>A | p.V651I | Missense | 9/14 | - | 2 |
1-156626090-C-T | c.1959C>T | p.S653= | Synonymous | 9/14 | - | 2 |
1-156626091-CC-TT | c.1960_1961delinsTT | p.P654F | Missense | 9/14 | - | 1 |
1-156626091-C-T | c.1960C>T | p.P654S | Missense | 9/14 | - | 1 |
1-156626092-C-T | c.1961C>T | p.P654L | Missense | 9/14 | - | 1 |
1-156626094-T-A | c.1963T>A | p.C655S | Missense | 9/14 | - | 1 |
1-156626095-G-C | c.1964G>C | p.C655S | Missense | 9/14 | - | 1 |
1-156626096-C-A | c.1965C>A | p.C655* | Nonsense | 9/14 | - | 1 |
1-156626098-A-G | c.1967A>G | p.H656R | Missense | 9/14 | - | 1 |
1-156626103-G-A | c.1972G>A | p.G658S | Missense | 9/14 | - | 2 |
1-156626104-G-T | c.1973G>T | p.G658V | Missense | 9/14 | - | 1 |
1-156626107-G-A | c.1976G>A | p.G659E | Missense | 9/14 | - | 1 |
1-156626113-G-T | c.1982G>T | p.C661F | Missense | 9/14 | - | 1 |
1-156626124-G-A | c.1993G>A | p.E665K | Missense | 9/14 | - | 3 |
1-156626124-G-T | c.1993G>T | p.E665* | Nonsense | 9/14 | - | 3 |
1-156626126-G-A | c.1995G>A | p.E665= | Synonymous | 9/14 | - | 4 |
1-156626130-G-A | c.1999G>A | p.G667R | Missense | 9/14 | - | 1 |
1-156626130-GG-AA | c.1999_2000delinsAA | p.G667K | Missense | 9/14 | - | 1 |
1-156626130-G-T | c.1999G>T | p.G667W | Missense | 9/14 | - | 1 |
1-156626131-G-A | c.2000G>A | p.G667E | Missense | 9/14 | - | 1 |
1-156626131-G-T | c.2000G>T | p.G667V | Missense | 9/14 | - | 4 |
1-156626133-G-A | c.2002G>A | p.V668I | Missense | 9/14 | - | 1 |
1-156626135-C-T | c.2004C>T | p.V668= | Synonymous | 9/14 | - | 1 |
1-156626136-C-T | c.2005C>T | p.R669C | Missense | 9/14 | - | 5 |
1-156626137-G-T | c.2006G>T | p.R669L | Missense | 9/14 | - | 1 |
1-156626140-G-T | c.2009G>T | p.C670F | Missense | 9/14 | - | 1 |
1-156626143-T-C | c.2012T>C | p.L671P | Missense | 9/14 | - | 1 |
1-156626149-T-G | c.2018T>G | p.L673R | Missense | 9/14 | - | 1 |
1-156626158-A-C | c.2027A>C | p.Y676S | Missense | 9/14 | - | 1 |
1-156626159-T-C | c.2028T>C | p.Y676= | Synonymous | 9/14 | - | 2 |
1-156626160-G-T | c.2029G>T | p.G677W | Missense | 9/14 | - | 1 |
1-156626161-G-A | c.2030G>A | p.G677E | Missense | 9/14 | - | 2 |
1-156626161-G-T | c.2030G>T | p.G677V | Missense | 9/14 | - | 1 |
1-156626162-G-T | c.2031G>T | p.G677= | Synonymous | 9/14 | - | 1 |
1-156626159-TG-T | c.2035del | p.D679Tfs*177 | Frameshift | 9/14 | - | 2 |
1-156626159-T-TG | c.2035dup | p.D679Gfs*89 | Frameshift | 9/14 | - | 4 |
1-156626166-G-A | c.2035G>A | p.D679N | Missense | 9/14 | - | 2 |
1-156626169-C-A | c.2038C>A | p.L680M | Missense | 9/14 | - | 1 |
1-156626175-G-T | c.2044G>T | p.D682Y | Missense | 9/14 | - | 6 |
1-156626178-G-A | c.2047G>A | p.V683I | Missense | 9/14 | - | 1 |
1-156626180-T-A | c.2049T>A | p.V683= | Synonymous | 9/14 | - | 2 |
1-156626180-T-C | c.2049T>C | p.V683= | Synonymous | 9/14 | - | 2 |
1-156626180-T-G | c.2049T>G | p.V683= | Synonymous | 9/14 | - | 2 |
1-156626211-G-C | c.2050+30G>C | - | IntronicSNV | - | 9/13 | 1 |
1-156626340-C-G | c.2050+159C>G | - | IntronicSNV | - | 9/13 | 2 |
1-156626358-C-A | c.2050+177C>A | - | IntronicSNV | - | 9/13 | 6 |
1-156626358-C-G | c.2050+177C>G | - | IntronicSNV | - | 9/13 | 4 |
1-156626738-T-G | c.2059T>G | p.F687V | Missense | 10/14 | - | 2 |
1-156626746-C-T | c.2067C>T | p.N689= | Synonymous | 10/14 | - | 1 |
1-156626758-C-T | c.2079C>T | p.D693= | Synonymous | 10/14 | - | 1 |
1-156626768-GGC-TGG | c.2089_2091delinsTGG | p.G697W | Missense | 10/14 | - | 1 |
1-156626771-G-A | c.2092G>A | p.A698T | Missense | 10/14 | - | 2 |
1-156626780-A-G | c.2101A>G | p.K701E | Missense | 10/14 | - | 1 |
1-156626781-A-G | c.2102A>G | p.K701R | Missense | 10/14 | - | 1 |
1-156626789-T-C | c.2110T>C | p.S704P | Missense | 10/14 | - | 2 |
1-156626790-C-A | c.2111C>A | p.S704Y | Missense | 10/14 | - | 1 |
1-156626796-G-A | c.2117G>A | p.R706Q | Missense | 10/14 | - | 1 |
1-156626796-G-T | c.2117G>T | p.R706L | Missense | 10/14 | - | 7 |
1-156626809-G-A | c.2130G>A | p.E710= | Synonymous | 10/14 | - | 3 |
1-156626811-A-G | c.2132A>G | p.E711G | Missense | 10/14 | - | 1 |
1-156626828-C-G | c.2149C>G | p.R717G | Missense | 10/14 | - | 3 |
1-156626828-C-T | c.2149C>T | p.R717W | Missense | 10/14 | - | 1 |
1-156626834-T-A | c.2155T>A | p.Y719N | Missense | 10/14 | - | 1 |
1-156626837-G-C | c.2158G>C | p.G720R | Missense | 10/14 | - | 3 |
1-156626840-G-A | c.2161G>A | p.A721T | Missense | 10/14 | - | 1 |
1-156626841-C-T | c.2162C>T | p.A721V | Missense | 10/14 | - | 1 |
1-156626842-G-A | c.2163G>A | p.A721= | Synonymous | 10/14 | - | 1 |
1-156626842-G-C | c.2163G>C | p.A721= | Synonymous | 10/14 | - | 1 |
1-156626842-G-T | c.2163G>T | p.A721= | Synonymous | 10/14 | - | 1 |
1-156626843-C-T | c.2164C>T | p.H722Y | Missense | 10/14 | - | 4 |
1-156626846-C-A | c.2167C>A | p.L723M | Missense | 10/14 | - | 2 |
1-156626846-C-G | c.2167C>G | p.L723V | Missense | 10/14 | - | 3 |
1-156626853-G-C | c.2174G>C | p.S725T | Missense | 10/14 | - | 1 |
1-156626862-C-A | c.2183C>A | p.T728K | Missense | 10/14 | - | 2 |
1-156626862-C-T | c.2183C>T | p.T728I | Missense | 10/14 | - | 1 |
1-156626863-A-C | c.2184A>C | p.T728= | Synonymous | 10/14 | - | 1 |
1-156626867-G-A | c.2188G>A | p.E730K | Missense | 10/14 | - | 1 |
1-156626869-G-A | c.2190G>A | p.E730= | Synonymous | 10/14 | - | 1 |
1-156626875-G-T | c.2196G>T | p.Q732H | Missense | 10/14 | - | 1 |
1-156626878-C-T | c.2199C>T | p.D733= | Synonymous | 10/14 | - | 1 |
1-156626879-TTCA-T | c.2204_2206del | p.I735del | InFrameDeletion | 10/14 | - | 1 |
1-156626883-T-G | c.2204T>G | p.I735S | Missense | 10/14 | - | 3 |
1-156626908-G-T | c.2209+20G>T | - | IntronicSNV | - | 10/13 | 1 |
1-156626920-T-A | c.2209+32T>A | - | IntronicSNV | - | 10/13 | 6 |
1-156626920-T-C | c.2209+32T>C | - | IntronicSNV | - | 10/13 | 9 |
1-156627069-A-AG | c.2209+182dup | - | IntronicInsertion | - | 10/13 | 1 |
1-156627469-CGG-ATC | c.2212_2214delinsATC | p.R738I | Missense | 11/14 | - | 1 |
1-156627469-C-T | c.2212C>T | p.R738W | Missense | 11/14 | - | 1 |
1-156627475-C-A | c.2218C>A | p.R740= | Synonymous | 11/14 | - | 2 |
1-156627477-G-A | c.2220G>A | p.R740= | Synonymous | 11/14 | - | 2 |
1-156627477-G-C | c.2220G>C | p.R740= | Synonymous | 11/14 | - | 2 |
1-156627477-G-T | c.2220G>T | p.R740= | Synonymous | 11/14 | - | 2 |
1-156627483-C-T | c.2226C>T | p.Y742= | Synonymous | 11/14 | - | 1 |
1-156627493-G-A | c.2236G>A | p.G746R | Missense | 11/14 | - | 3 |
1-156627493-G-C | c.2236G>C | p.G746R | Missense | 11/14 | - | 2 |
1-156627498-C-A | c.2241C>A | p.L747= | Synonymous | 11/14 | - | 1 |
1-156627498-C-G | c.2241C>G | p.L747= | Synonymous | 11/14 | - | 1 |
1-156627498-C-T | c.2241C>T | p.L747= | Synonymous | 11/14 | - | 1 |
1-156627501-C-A | c.2244C>A | p.N748K | Missense | 11/14 | - | 2 |
1-156627501-C-G | c.2244C>G | p.N748K | Missense | 11/14 | - | 2 |
1-156627504-C-A | c.2247C>A | p.D749E | Missense | 11/14 | - | 2 |
1-156627504-C-CT | c.2247_2248insT | p.R750* | Nonsense | 11/14 | - | 1 |
1-156627504-C-G | c.2247C>G | p.D749E | Missense | 11/14 | - | 1 |
1-156627509-C-T | c.2252C>T | p.T751I | Missense | 11/14 | - | 1 |
1-156627508-AC-A | c.2253del | p.I752Sfs*104 | Frameshift | 11/14 | - | 1 |
1-156627510-C-A | c.2253C>A | p.T751= | Synonymous | 11/14 | - | 1 |
1-156627510-C-G | c.2253C>G | p.T751= | Synonymous | 11/14 | - | 1 |
1-156627510-C-T | c.2253C>T | p.T751= | Synonymous | 11/14 | - | 2 |
1-156627511-CA-C | c.2254del | p.I752Sfs*104 | Frameshift | 11/14 | - | 1 |
1-156627534-G-A | c.2277G>A | p.S759= | Synonymous | 11/14 | - | 2 |
1-156627534-G-C | c.2277G>C | p.S759= | Synonymous | 11/14 | - | 3 |
1-156627534-G-T | c.2277G>T | p.S759= | Synonymous | 11/14 | - | 2 |
1-156627538-G-A | c.2281G>A | p.G761S | Missense | 11/14 | - | 2 |
1-156627538-G-C | c.2281G>C | p.G761R | Missense | 11/14 | - | 1 |
1-156627539-G-T | c.2282G>T | p.G761V | Missense | 11/14 | - | 1 |
1-156627544-C-T | c.2287C>T | p.P763S | Missense | 11/14 | - | 1 |
1-156627545-C-T | c.2288C>T | p.P763L | Missense | 11/14 | - | 2 |
1-156627573-G-A | c.2292+24G>A | - | IntronicSNV | - | 11/13 | 1 |
1-156627906-T-C | c.2293-13T>C | - | IntronicSNV | - | 11/13 | 2 |
1-156627928-A-G | c.2302A>G | p.N768D | Missense | 12/14 | - | 1 |
1-156627930-C-G | c.2304C>G | p.N768K | Missense | 12/14 | - | 1 |
1-156627941-G-T | c.2315G>T | p.G772V | Missense | 12/14 | - | 1 |
1-156627943-C-T | c.2317C>T | p.Q773* | Nonsense | 12/14 | - | 1 |
1-156627946-C-T | c.2320C>T | p.P774S | Missense | 12/14 | - | 3 |
1-156627949-G-C | c.2323G>C | p.D775H | Missense | 12/14 | - | 1 |
1-156627951-C-A | c.2325C>A | p.D775E | Missense | 12/14 | - | 5 |
1-156627951-C-G | c.2325C>G | p.D775E | Missense | 12/14 | - | 1 |
1-156627952-A-G | c.2326A>G | p.S776G | Missense | 12/14 | - | 1 |
1-156627954-C-T | c.2328C>T | p.S776= | Synonymous | 12/14 | - | 1 |
1-156627972-G-C | c.2346G>C | p.E782D | Missense | 12/14 | - | 1 |
1-156627972-G-T | c.2346G>T | p.E782D | Missense | 12/14 | - | 1 |
1-156627975-C-T | c.2349C>T | p.N783= | Synonymous | 12/14 | - | 1 |
1-156627979-G-C | c.2353G>C | p.V785L | Missense | 12/14 | - | 1 |
1-156627988-G-C | c.2362G>C | p.V788L | Missense | 12/14 | - | 1 |
1-156627988-G-T | c.2362G>T | p.V788L | Missense | 12/14 | - | 1 |
1-156627996-T-C | c.2370T>C | p.H790= | Synonymous | 12/14 | - | 10 |
1-156628011-G-A | c.2385G>A | p.W795* | Nonsense | 12/14 | - | 1 |
1-156628015-G-T | c.2389G>T | p.D797Y | Missense | 12/14 | - | 1 |
1-156628017-C-T | c.2391C>T | p.D797= | Synonymous | 12/14 | - | 1 |
1-156628020-G-A | c.2394G>A | p.V798= | Synonymous | 12/14 | - | 1 |
1-156628020-G-C | c.2394G>C | p.V798= | Synonymous | 12/14 | - | 1 |
1-156628020-G-T | c.2394G>T | p.V798= | Synonymous | 12/14 | - | 1 |
1-156628023-C-A | c.2397C>A | p.P799= | Synonymous | 12/14 | - | 1 |
1-156628023-C-G | c.2397C>G | p.P799= | Synonymous | 12/14 | - | 1 |
1-156628023-C-T | c.2397C>T | p.P799= | Synonymous | 12/14 | - | 1 |
1-156628028-A-T | c.2402A>T | p.N801I | Missense | 12/14 | - | 2 |
1-156628030-T-C | c.2404T>C | p.Y802H | Missense | 12/14 | - | 1 |
1-156628035-C-T | c.2409C>T | p.H803= | Synonymous | 12/14 | - | 1 |
1-156628038-G-A | c.2412G>A | p.L804= | Synonymous | 12/14 | - | 1 |
1-156628039-TC-CT | c.2413_2414delinsCT | p.S805L | Missense | 12/14 | - | 1 |
1-156628045-A-T | c.2419A>T | p.T807S | Missense | 12/14 | - | 1 |
1-156628052-A-T | c.2426A>T | p.K809M | Missense | 12/14 | - | 1 |
1-156628055-T-C | c.2429T>C | p.M810T | Missense | 12/14 | - | 1 |
1-156628057-G-A | c.2431G>A | p.G811R | Missense | 12/14 | - | 1 |
1-156628057-G-C | c.2431G>C | p.G811R | Missense | 12/14 | - | 1 |
1-156628058-G-A | c.2432G>A | p.G811E | Missense | 12/14 | - | 1 |
1-156628058-G-C | c.2432G>C | p.G811A | Missense | 12/14 | - | 1 |
1-156628089-A-G | c.2437+26A>G | - | IntronicSNV | - | 12/13 | 1 |
1-156628252-G-A | c.2438-83G>A | - | IntronicSNV | - | 12/13 | 2 |
1-156628338-C-G | c.2441C>G | p.S814C | Missense | 13/14 | - | 1 |
1-156628339-C-A | c.2442C>A | p.S814= | Synonymous | 13/14 | - | 1 |
1-156628339-C-G | c.2442C>G | p.S814= | Synonymous | 13/14 | - | 1 |
1-156628339-C-T | c.2442C>T | p.S814= | Synonymous | 13/14 | - | 1 |
1-156628345-G-C | c.2448G>C | p.G816= | Synonymous | 13/14 | - | 1 |
1-156628347-C-T | c.2450C>T | p.P817L | Missense | 13/14 | - | 3 |
1-156628348-G-A | c.2451G>A | p.P817= | Synonymous | 13/14 | - | 1 |
1-156628353-C-T | c.2456C>T | p.P819L | Missense | 13/14 | - | 1 |
1-156628354-G-A | c.2457G>A | p.P819= | Synonymous | 13/14 | - | 2 |
1-156628354-G-C | c.2457G>C | p.P819= | Synonymous | 13/14 | - | 2 |
1-156628354-G-T | c.2457G>T | p.P819= | Synonymous | 13/14 | - | 2 |
1-156628356-A-C | c.2459A>C | p.E820A | Missense | 13/14 | - | 1 |
1-156628358-C-A | c.2461C>A | p.L821M | Missense | 13/14 | - | 1 |
1-156628359-T-A | c.2462T>A | p.L821Q | Missense | 13/14 | - | 2 |
1-156628360-G-A | c.2463G>A | p.L821= | Synonymous | 13/14 | - | 1 |
1-156628362-C-A | c.2465C>A | p.P822H | Missense | 13/14 | - | 1 |
1-156628364-C-T | c.2467C>T | p.L823= | Synonymous | 13/14 | - | 1 |
1-156628366-G-A | c.2469G>A | p.L823= | Synonymous | 13/14 | - | 1 |
1-156628366-G-C | c.2469G>C | p.L823= | Synonymous | 13/14 | - | 1 |
1-156628366-G-T | c.2469G>T | p.L823= | Synonymous | 13/14 | - | 1 |
1-156628368-C-G | c.2471C>G | p.A824G | Missense | 13/14 | - | 1 |
1-156628370-C-A | c.2473C>A | p.Q825K | Missense | 13/14 | - | 1 |
1-156628370-C-T | c.2473C>T | p.Q825* | Nonsense | 13/14 | - | 1 |
1-156628379-G-A | c.2482G>A | p.G828S | Missense | 13/14 | - | 1 |
1-156628380-GC-AG | c.2483_2484delinsAG | p.G828E | Missense | 13/14 | - | 1 |
1-156628383-G-A | c.2486G>A | p.R829H | Missense | 13/14 | - | 1 |
1-156628383-G-T | c.2486G>T | p.R829L | Missense | 13/14 | - | 2 |
1-156628389-G-A | c.2492G>A | p.R831Q | Missense | 13/14 | - | 1 |
1-156628394-C-T | c.2497C>T | p.R833C | Missense | 13/14 | - | 1 |
1-156628395-G-A | c.2498G>A | p.R833H | Missense | 13/14 | - | 2 |
1-156628396-CTA-C | c.2501_2502del | p.Y834* | Frameshift | 13/14 | - | 1 |
1-156628397-T-TA | c.2501dup | p.Y834* | Nonsense | 13/14 | - | 1 |
1-156628400-G-A | c.2503G>A | p.E835K | Missense | 13/14 | - | 1 |
1-156628410-C-T | c.2513C>T | p.T838I | Missense | 13/14 | - | 2 |
1-156628415-C-T | c.2518C>T | p.L840F | Missense | 13/14 | - | 4 |
1-156628417-T-A | c.2520T>A | p.L840= | Synonymous | 13/14 | - | 1 |
1-156628417-T-C | c.2520T>C | p.L840= | Synonymous | 13/14 | - | 1 |
1-156628417-T-G | c.2520T>G | p.L840= | Synonymous | 13/14 | - | 1 |
1-156628418-C-T | c.2521C>T | p.R841C | Missense | 13/14 | - | 3 |
1-156628419-G-A | c.2522G>A | p.R841H | Missense | 13/14 | - | 1 |
1-156628419-G-T | c.2522G>T | p.R841L | Missense | 13/14 | - | 1 |
1-156628423-C-T | c.2526C>T | p.Y842= | Synonymous | 13/14 | - | 1 |
1-156628425-G-A | c.2528G>A | p.R843Q | Missense | 13/14 | - | 1 |
1-156628429-C-T | c.2532C>T | p.C844= | Synonymous | 13/14 | - | 1 |
1-156628431-G-A | c.2534G>A | p.R845Q | Missense | 13/14 | - | 1 |
1-156628431-G-C | c.2534G>C | p.R845P | Missense | 13/14 | - | 5 |
1-156628441-G-T | c.2544G>T | p.L848= | Synonymous | 13/14 | - | 1 |
1-156628448-C-A | c.2551C>A | p.R851S | Missense | 13/14 | - | 1 |
1-156628449-G-A | c.2552G>A | p.R851H | Missense | 13/14 | - | 7 |
1-156628454-C-A | c.2557C>A | p.L853M | Missense | 13/14 | - | 1 |
1-156628459-G-A | c.2562G>A | p.P854= | Synonymous | 13/14 | - | 1 |
1-156628463-A-T | c.2566A>T | p.I856F | Missense | 13/14 | - | 1 |
1-156628465-C-A | c.2568C>A | p.I856= | Synonymous | 13/14 | - | 2 |
1-156628465-C-T | c.2568C>T | p.I856= | Synonymous | 13/14 | - | 1 |
1-156628466-C-A | c.2569C>A | p.R857= | Synonymous | 13/14 | - | 2 |
1-156628466-C-T | c.2569C>T | p.R857* | Nonsense | 13/14 | - | 3 |
1-156628467-G-A | c.2570G>A | p.R857Q | Missense | 13/14 | - | 1 |
1-156628471-C-T | c.2574C>T | p.C858= | Synonymous | 13/14 | - | 1 |
1-156628472-C-T | c.2575C>T | p.Q859* | Nonsense | 13/14 | - | 1 |
1-156628473-A-T | c.2576A>T | p.Q859L | Missense | 13/14 | - | 2 |
1-156628474-A-G | c.2577A>G | p.Q859= | Synonymous | 13/14 | - | 1 |
1-156628480-C-T | c.2583C>T | p.N861= | Synonymous | 13/14 | - | 1 |
1-156628481-G-A | c.2584G>A | p.G862S | Missense | 13/14 | - | 1 |
1-156628497-C-G | c.2600C>G | p.P867R | Missense | 13/14 | - | 1 |
1-156628493-G-GC | c.2602dup | p.Q868Pfs*142 | Frameshift | 13/14 | - | 1 |
1-156628500-CA-C | c.2603del | p.Q868Rfs*34 | Frameshift | 13/14 | - | 1 |
1-156628501-G-T | c.2604G>T | p.Q868H | Missense | 13/14 | - | 2 |
1-156628504-C-G | c.2607C>G | p.I869M | Missense | 13/14 | - | 1 |
1-156628504-C-T | c.2607C>T | p.I869= | Synonymous | 13/14 | - | 3 |
1-156628511-G-C | c.2614G>C | p.V872L | Missense | 13/14 | - | 2 |
1-156628511-G-T | c.2614G>T | p.V872L | Missense | 13/14 | - | 1 |
1-156628514-C-A | c.2617C>A | p.P873T | Missense | 13/14 | - | 5 |
1-156628516-CAGA-C | c.2623_2625del | p.R875del | InFrameDeletion | 13/14 | - | 1 |
1-156628521-G-A | c.2624G>A | p.R875K | Missense | 13/14 | - | 4 |
1-156628524-C-T | c.2627C>T | p.P876L | Missense | 13/14 | - | 3 |
1-156628717-C-A | c.2629-102C>A | - | IntronicSNV | - | 13/13 | 9 |
1-156628820-C-A | c.2630C>A | p.A877D | Missense | 14/14 | - | 2 |
1-156628822-C-A | c.2632C>A | p.R878= | Synonymous | 14/14 | - | 1 |
1-156628823-G-A | c.2633G>A | p.R878Q | Missense | 14/14 | - | 1 |
1-156628842-G-A | c.2652G>A | p.E884= | Synonymous | 14/14 | - | 4 |
1-156628843-G-A | c.2653G>A | p.D885N | Missense | 14/14 | - | 4 |
1-156628843-G-C | c.2653G>C | p.D885H | Missense | 14/14 | - | 4 |
1-156628856-G-A | c.2666G>A | p.R889H | Missense | 14/14 | - | 1 |
1-156628861-G-A | c.2671G>A | p.G891R | Missense | 14/14 | - | 2 |
1-156628861-G-C | c.2671G>C | p.G891R | Missense | 14/14 | - | 1 |
1-156628861-G-T | c.2671G>T | p.G891W | Missense | 14/14 | - | 1 |
1-156628862-G-A | c.2672G>A | p.G891E | Missense | 14/14 | - | 3 |
1-156628872-G-A | c.2682G>A | p.L894= | Synonymous | 14/14 | - | 1 |
1-156628873-G-A | c.2683G>A | p.G895R | Missense | 14/14 | - | 1 |
1-156628876-C-A | c.2686C>A | p.R896S | Missense | 14/14 | - | 5 |
1-156628880-G-A | c.2690G>A | p.W897* | Nonsense | 14/14 | - | 1 |
1-156628880-G-T | c.2690G>T | p.W897L | Missense | 14/14 | - | 1 |
1-156628883-A-C | c.2693A>C | p.K898T | Missense | 14/14 | - | 2 |
1-156628885-G-A | c.2695G>A | p.A899T | Missense | 14/14 | - | 1 |
1-156628886-C-T | c.2696C>T | p.A899V | Missense | 14/14 | - | 1 |
1-156628887-G-A | c.2697G>A | p.A899= | Synonymous | 14/14 | - | 2 |
1-156628887-G-C | c.2697G>C | p.A899= | Synonymous | 14/14 | - | 1 |
1-156628887-G-T | c.2697G>T | p.A899= | Synonymous | 14/14 | - | 1 |
1-156628894-GATC-G | c.2704_2706del | p.I902del | InFrameDeletion | 14/14 | - | 1 |
1-156628897-C-G | c.2707C>G | p.P903A | Missense | 14/14 | - | 1 |
1-156628897-C-T | c.2707C>T | p.P903S | Missense | 14/14 | - | 1 |
1-156628900-C-A | c.2710C>A | p.P904T | Missense | 14/14 | - | 1 |
1-156628900-C-G | c.2710C>G | p.P904A | Missense | 14/14 | - | 1 |
1-156628900-C-T | c.2710C>T | p.P904S | Missense | 14/14 | - | 1 |
1-156628903-T-C | c.2713T>C | p.S905P | Missense | 14/14 | - | 1 |
1-156628904-C-T | c.2714C>T | p.S905F | Missense | 14/14 | - | 1 |
1-156628909-C-A | c.2719C>A | p.P907T | Missense | 14/14 | - | 2 |
1-156628915-C-A | c.2725C>A | p.P909T | Missense | 14/14 | - | 1 |
1-156628918-G-T | c.2728G>T | p.G910C | Missense | 14/14 | - | 1 |
1-156629037-A-G | c.*111A>G | - | 3-UTRSNV | 14/14 | - | 11 |