Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
3-46753608-A-G | c.*128T>C | - | 3-UTRSNV | 6/6 | - | 1 |
3-46753621-A-G | c.*115T>C | - | 3-UTRSNV | 6/6 | - | 4 |
3-46753743-G-A | c.1151C>T | p.A384V | Missense | 6/6 | - | 2 |
3-46753751-G-A | c.1143C>T | p.L381= | Synonymous | 6/6 | - | 2 |
3-46753762-G-A | c.1132C>T | p.P378S | Missense | 6/6 | - | 1 |
3-46753768-G-A | c.1126C>T | p.P376S | Missense | 6/6 | - | 1 |
3-46753778-G-A | c.1116C>T | p.L372= | Synonymous | 6/6 | - | 1 |
3-46753779-AG-CT | c.1114_1115inv | p.L372S | Missense | 6/6 | - | 1 |
3-46753781-C-A | c.1113G>T | p.L371= | Synonymous | 6/6 | - | 2 |
3-46753781-C-G | c.1113G>C | p.L371= | Synonymous | 6/6 | - | 2 |
3-46753781-C-T | c.1113G>A | p.L371= | Synonymous | 6/6 | - | 2 |
3-46753783-G-A | c.1111C>T | p.L371= | Synonymous | 6/6 | - | 2 |
3-46753789-T-A | c.1105A>T | p.R369W | Missense | 6/6 | - | 1 |
3-46753806-G-A | c.1088C>T | p.A363V | Missense | 6/6 | - | 1 |
3-46753806-G-C | c.1088C>G | p.A363G | Missense | 6/6 | - | 1 |
3-46753828-A-C | c.1066T>G | p.C356G | Missense | 6/6 | - | 1 |
3-46753832-C-T | c.1062G>A | p.W354* | Nonsense | 6/6 | - | 1 |
3-46753835-G-C | c.1059C>G | p.I353M | Missense | 6/6 | - | 1 |
3-46753841-G-A | c.1053C>T | p.H351= | Synonymous | 6/6 | - | 1 |
3-46753846-G-A | c.1048C>T | p.Q350* | Nonsense | 6/6 | - | 1 |
3-46753852-A-T | c.1042T>A | p.S348T | Missense | 6/6 | - | 1 |
3-46753858-C-T | c.1036G>A | p.V346I | Missense | 6/6 | - | 1 |
3-46753860-T-C | c.1034A>G | p.Q345R | Missense | 6/6 | - | 1 |
3-46753861-G-A | c.1033C>T | p.Q345* | Nonsense | 6/6 | - | 1 |
3-46753868-G-T | c.1026C>A | p.I342= | Synonymous | 6/6 | - | 1 |
3-46753878-G-A | c.1016C>T | p.A339V | Missense | 6/6 | - | 2 |
3-46753880-C-T | c.1014G>A | p.E338= | Synonymous | 6/6 | - | 4 |
3-46753882-C-T | c.1012G>A | p.E338K | Missense | 6/6 | - | 1 |
3-46753883-G-A | c.1011C>T | p.S337= | Synonymous | 6/6 | - | 1 |
3-46753884-C-A | c.1010G>T | p.S337I | Missense | 6/6 | - | 4 |
3-46753886-C-T | c.1008G>A | p.K336= | Synonymous | 6/6 | - | 1 |
3-46753901-A-C | c.993T>G | p.G331= | Synonymous | 6/6 | - | 1 |
3-46753901-A-G | c.993T>C | p.G331= | Synonymous | 6/6 | - | 2 |
3-46753901-A-T | c.993T>A | p.G331= | Synonymous | 6/6 | - | 1 |
3-46753902-C-T | c.992G>A | p.G331D | Missense | 6/6 | - | 1 |
3-46753903-C-G | c.991G>C | p.G331R | Missense | 6/6 | - | 1 |
3-46753907-G-A | c.987C>T | p.S329= | Synonymous | 6/6 | - | 1 |
3-46753908-C-A | c.986G>T | p.S329I | Missense | 6/6 | - | 1 |
3-46753917-C-T | c.977G>A | p.G326E | Missense | 6/6 | - | 1 |
3-46753929-C-A | c.965G>T | p.W322L | Missense | 6/6 | - | 1 |
3-46753932-G-A | c.962C>T | p.T321M | Missense | 6/6 | - | 2 |
3-46753938-T-A | c.956A>T | p.E319V | Missense | 6/6 | - | 2 |
3-46753939-C-T | c.955G>A | p.E319K | Missense | 6/6 | - | 4 |
3-46753940-C-T | c.954G>A | p.M318I | Missense | 6/6 | - | 4 |
3-46753952-C-T | c.942G>A | p.L314= | Synonymous | 6/6 | - | 1 |
3-46753954-A-G | c.940T>C | p.L314= | Synonymous | 6/6 | - | 1 |
3-46753955-G-A | c.939C>T | p.P313= | Synonymous | 6/6 | - | 1 |
3-46753960-C-G | c.934G>C | p.E312Q | Missense | 6/6 | - | 2 |
3-46753965-G-A | c.929C>T | p.T310I | Missense | 6/6 | - | 1 |
3-46753966-T-C | c.928A>G | p.T310A | Missense | 6/6 | - | 2 |
3-46753967-T-A | c.927A>T | p.L309= | Synonymous | 6/6 | - | 1 |
3-46753967-T-C | c.927A>G | p.L309= | Synonymous | 6/6 | - | 1 |
3-46753967-T-G | c.927A>C | p.L309= | Synonymous | 6/6 | - | 1 |
3-46753969-G-A | c.925C>T | p.L309= | Synonymous | 6/6 | - | 2 |
3-46753970-C-T | c.924G>A | p.E308= | Synonymous | 6/6 | - | 4 |
3-46753976-T-C | c.922-4A>G | - | IntronicSNV | - | 5/5 | 11 |
3-46754286-C-A | c.921+105G>T | - | IntronicSNV | - | 5/5 | 1 |
3-46754397-G-A | c.915C>T | p.F305= | Synonymous | 5/6 | - | 2 |
3-46754405-C-T | c.907G>A | p.E303K | Missense | 5/6 | - | 4 |
3-46754406-C-T | c.906G>A | p.R302= | Synonymous | 5/6 | - | 2 |
3-46754408-T-G | c.904A>C | p.R302= | Synonymous | 5/6 | - | 1 |
3-46754421-C-T | c.891G>A | p.A297= | Synonymous | 5/6 | - | 1 |
3-46754424-CACACATCATCTGGGACTTGATGATCTGAACCAGAGTGGGGATTTTGGTGAAGTTGTGGT-C | c.830_888del | p.Y277Cfs*12 | InFrameDeletion | 5/6 | - | 1 |
3-46754425-C-T | c.887G>A | p.C296Y | Missense | 5/6 | - | 2 |
3-46754437-G-T | c.875C>A | p.S292Y | Missense | 5/6 | - | 1 |
3-46754440-TTGA-T | c.869_871del | p.I290del | InFrameDeletion | 5/6 | - | 1 |
3-46754445-G-A | c.867C>T | p.I289= | Synonymous | 5/6 | - | 1 |
3-46754450-G-T | c.862C>A | p.Q288K | Missense | 5/6 | - | 1 |
3-46754458-G-A | c.854C>T | p.T285I | Missense | 5/6 | - | 1 |
3-46754460-G-A | c.852C>T | p.P284= | Synonymous | 5/6 | - | 1 |
3-46754462-G-A | c.850C>T | p.P284S | Missense | 5/6 | - | 2 |
3-46754465-T-C | c.847A>G | p.I283V | Missense | 5/6 | - | 1 |
3-46754482-T-C | c.830A>G | p.Y277C | Missense | 5/6 | - | 2 |
3-46754489-T-G | c.823A>C | p.N275H | Missense | 5/6 | - | 2 |
3-46754494-C-T | c.818G>A | p.C273Y | Missense | 5/6 | - | 1 |
3-46754496-C-T | c.816G>A | p.E272= | Synonymous | 5/6 | - | 4 |
3-46754500-T-C | c.812A>G | p.K271R | Missense | 5/6 | - | 1 |
3-46754518-A-G | c.794T>C | p.V265A | Missense | 5/6 | - | 1 |
3-46754519-C-T | c.793G>A | p.V265I | Missense | 5/6 | - | 1 |
3-46754523-C-T | c.789G>A | p.K263= | Synonymous | 5/6 | - | 1 |
3-46754528-C-G | c.784G>C | p.E262Q | Missense | 5/6 | - | 1 |
3-46754528-C-T | c.784G>A | p.E262K | Missense | 5/6 | - | 4 |
3-46754531-G-A | c.781C>T | p.Q261* | Nonsense | 5/6 | - | 2 |
3-46754539-C-T | c.773G>A | p.R258Q | Missense | 5/6 | - | 2 |
3-46754538-C-A | c.774G>T | p.R258= | Synonymous | 5/6 | - | 2 |
3-46754538-C-G | c.774G>C | p.R258= | Synonymous | 5/6 | - | 2 |
3-46754538-C-T | c.774G>A | p.R258= | Synonymous | 5/6 | - | 2 |
3-46754540-G-A | c.772C>T | p.R258W | Missense | 5/6 | - | 2 |
3-46754540-G-T | c.772C>A | p.R258= | Synonymous | 5/6 | - | 2 |
3-46754544-C-T | c.768G>A | p.Q256= | Synonymous | 5/6 | - | 2 |
3-46754546-G-A | c.766C>T | p.Q256* | Nonsense | 5/6 | - | 2 |
3-46754550-C-T | c.762G>A | p.W254* | Nonsense | 5/6 | - | 3 |
3-46754551-C-T | c.761G>A | p.W254* | Nonsense | 5/6 | - | 2 |
3-46754555-T-C | c.757A>G | p.M253V | Missense | 5/6 | - | 2 |
3-46754737-A-G | c.755-180T>C | - | IntronicSNV | - | 4/5 | 1 |
3-46755720-A-G | c.742T>C | p.S248P | Missense | 4/6 | - | 4 |
3-46755734-G-A | c.728C>T | p.T243M | Missense | 4/6 | - | 1 |
3-46755735-T-A | c.727A>T | p.T243S | Missense | 4/6 | - | 1 |
3-46755745-GCG-CCA | c.715_717delinsTGG | p.R239W | Missense | 4/6 | - | 2 |
3-46755746-C-T | c.716G>A | p.R239H | Missense | 4/6 | - | 1 |
3-46755747-G-A | c.715C>T | p.R239C | Missense | 4/6 | - | 2 |
3-46755757-C-A | c.705G>T | p.K235N | Missense | 4/6 | - | 3 |
3-46755757-C-G | c.705G>C | p.K235N | Missense | 4/6 | - | 2 |
3-46755758-T-C | c.704A>G | p.K235R | Missense | 4/6 | - | 1 |
3-46755760-C-T | c.702G>A | p.L234= | Synonymous | 4/6 | - | 1 |
3-46755769-G-A | c.693C>T | p.D231= | Synonymous | 4/6 | - | 3 |
3-46755771-C-T | c.691G>A | p.D231N | Missense | 4/6 | - | 3 |
3-46755772-C-G | c.690G>C | p.T230= | Synonymous | 4/6 | - | 1 |
3-46755772-C-T | c.690G>A | p.T230= | Synonymous | 4/6 | - | 1 |
3-46755773-G-A | c.689C>T | p.T230M | Missense | 4/6 | - | 7 |
3-46755777-C-A | c.685G>T | p.G229C | Missense | 4/6 | - | 1 |
3-46755779-G-A | c.683C>T | p.P228L | Missense | 4/6 | - | 1 |
3-46755780-G-A | c.682C>T | p.P228S | Missense | 4/6 | - | 1 |
3-46755791-G-A | c.671C>T | p.P224L | Missense | 4/6 | - | 1 |
3-46755795-G-C | c.667C>G | p.R223G | Missense | 4/6 | - | 1 |
3-46755799-G-C | c.663C>G | p.Y221* | Nonsense | 4/6 | - | 1 |
3-46755806-C-A | c.656G>T | p.S219I | Missense | 4/6 | - | 1 |
3-46755818-T-A | c.644A>T | p.E215V | Missense | 4/6 | - | 1 |
3-46755820-C-T | c.642G>A | p.Q214= | Synonymous | 4/6 | - | 1 |
3-46755823-C-A | c.639G>T | p.K213N | Missense | 4/6 | - | 1 |
3-46755823-C-G | c.639G>C | p.K213N | Missense | 4/6 | - | 1 |
3-46755823-C-T | c.639G>A | p.K213= | Synonymous | 4/6 | - | 1 |
3-46755831-T-C | c.631A>G | p.K211E | Missense | 4/6 | - | 2 |
3-46755832-G-C | c.630C>G | p.L210= | Synonymous | 4/6 | - | 1 |
3-46755837-G-A | c.625C>T | p.L209F | Missense | 4/6 | - | 1 |
3-46755839-C-G | c.623G>C | p.G208A | Missense | 4/6 | - | 1 |
3-46755845-T-TC | c.616dup | p.D206Gfs*46 | Frameshift | 4/6 | - | 1 |
3-46755846-C-T | c.616G>A | p.D206N | Missense | 4/6 | - | 2 |
3-46755847-G-A | c.615C>T | p.N205= | Synonymous | 4/6 | - | 2 |
3-46755851-G-A | c.611C>T | p.A204V | Missense | 4/6 | - | 1 |
3-46755852-C-G | c.610G>C | p.A204P | Missense | 4/6 | - | 1 |
3-46755854-T-C | c.608A>G | p.Q203R | Missense | 4/6 | - | 1 |
3-46755858-C-T | c.604G>A | p.G202S | Missense | 4/6 | - | 1 |
3-46755868-C-A | c.594G>T | p.W198C | Missense | 4/6 | - | 1 |
3-46755870-A-G | c.592T>C | p.W198R | Missense | 4/6 | - | 1 |
3-46755870-A-T | c.592T>A | p.W198R | Missense | 4/6 | - | 1 |
3-46755871-G-A | c.591C>T | p.F197= | Synonymous | 4/6 | - | 1 |
3-46755871-G-C | c.591C>G | p.F197L | Missense | 4/6 | - | 2 |
3-46755871-G-T | c.591C>A | p.F197L | Missense | 4/6 | - | 2 |
3-46755873-A-G | c.589T>C | p.F197L | Missense | 4/6 | - | 2 |
3-46755875-C-T | c.587G>A | p.R196Q | Missense | 4/6 | - | 1 |
3-46755876-G-A | c.586C>T | p.R196W | Missense | 4/6 | - | 1 |
3-46755880-G-A | c.582C>T | p.A194= | Synonymous | 4/6 | - | 1 |
3-46755884-C-T | c.578G>A | p.R193Q | Missense | 4/6 | - | 2 |
3-46755885-G-A | c.577C>T | p.R193W | Missense | 4/6 | - | 2 |
3-46755886-G-A | c.576C>T | p.Y192= | Synonymous | 4/6 | - | 1 |
3-46755888-A-G | c.574T>C | p.Y192H | Missense | 4/6 | - | 1 |
3-46755891-T-A | c.571A>T | p.R191W | Missense | 4/6 | - | 1 |
3-46755893-C-A | c.569G>T | p.S190I | Missense | 4/6 | - | 1 |
3-46755894-T-C | c.568A>G | p.S190G | Missense | 4/6 | - | 1 |
3-46755897-G-T | c.565C>A | p.H189N | Missense | 4/6 | - | 1 |
3-46755907-C-T | c.555G>A | p.Q185= | Synonymous | 4/6 | - | 2 |
3-46755917-G-A | c.545C>T | p.P182L | Missense | 4/6 | - | 3 |
3-46755917-G-T | c.545C>A | p.P182Q | Missense | 4/6 | - | 1 |
3-46755924-C-T | c.538G>A | p.D180N | Missense | 4/6 | - | 1 |
3-46755926-G-A | c.536C>T | p.S179F | Missense | 4/6 | - | 1 |
3-46755930-C-A | c.532G>T | p.A178S | Missense | 4/6 | - | 1 |
3-46755930-C-T | c.532G>A | p.A178T | Missense | 4/6 | - | 1 |
3-46755931-G-A | c.531C>T | p.T177= | Synonymous | 4/6 | - | 1 |
3-46755934-C-G | c.528G>C | p.Q176H | Missense | 4/6 | - | 1 |
3-46755937-C-A | c.525G>T | p.T175= | Synonymous | 4/6 | - | 9 |
3-46755937-C-G | c.525G>C | p.T175= | Synonymous | 4/6 | - | 2 |
3-46755937-C-T | c.525G>A | p.T175= | Synonymous | 4/6 | - | 10 |
3-46755938-G-A | c.524C>T | p.T175M | Missense | 4/6 | - | 2 |
3-46755943-C-A | c.519G>T | p.Q173H | Missense | 4/6 | - | 1 |
3-46755943-C-G | c.519G>C | p.Q173H | Missense | 4/6 | - | 1 |
3-46755943-TC-T | c.519del | p.M174* | Frameshift | 4/6 | - | 1 |
3-46755952-C-T | c.510G>A | p.W170* | Nonsense | 4/6 | - | 1 |
3-46755953-C-T | c.509G>A | p.W170* | Nonsense | 4/6 | - | 1 |
3-46755955-C-T | c.507G>A | p.P169= | Synonymous | 4/6 | - | 1 |
3-46755956-G-A | c.506C>T | p.P169L | Missense | 4/6 | - | 1 |
3-46755957-G-A | c.505C>T | p.P169S | Missense | 4/6 | - | 2 |
3-46755962-C-G | c.500G>C | p.G167A | Missense | 4/6 | - | 1 |
3-46755962-C-T | c.500G>A | p.G167E | Missense | 4/6 | - | 1 |
3-46755967-CCT-ACA | c.493_495delinsTGT | p.R165C | Missense | 4/6 | - | 1 |
3-46755971-A-G | c.491T>C | p.V164A | Missense | 4/6 | - | 1 |
3-46755975-A-G | c.487T>C | p.S163P | Missense | 4/6 | - | 7 |
3-46755984-C-T | c.478G>A | p.V160I | Missense | 4/6 | - | 1 |
3-46755988-ACG-CCA | c.472_474delinsTGG | p.R158W | Missense | 4/6 | - | 1 |
3-46755988-AC-TT | c.473_474delinsAA | p.R158Q | Missense | 4/6 | - | 1 |
3-46756848-G-A | c.470+177C>T | - | IntronicSNV | - | 3/5 | 1 |
3-46756945-A-T | c.470+80T>A | - | IntronicSNV | - | 3/5 | 2 |
3-46755991-C-T | c.471G>A | p.W157* | Nonsense | 4/6 | - | 1 |
3-46757025-C-T | c.470G>A | p.W157* | Nonsense | 3/6 | - | 1 |
3-46757026-A-G | c.469T>C | p.W157R | Missense | 3/6 | - | 1 |
3-46757027-G-A | c.468C>T | p.I156= | Synonymous | 3/6 | - | 1 |
3-46757027-G-T | c.468C>A | p.I156= | Synonymous | 3/6 | - | 2 |
3-46757030-C-T | c.465G>A | p.L155= | Synonymous | 3/6 | - | 1 |
3-46757040-G-A | c.455C>T | p.A152V | Missense | 3/6 | - | 2 |
3-46757051-CAC-AAA | c.442_444delinsTTT | p.V148F | Missense | 3/6 | - | 1 |
3-46757057-C-T | c.438G>A | p.Q146= | Synonymous | 3/6 | - | 1 |
3-46757060-G-A | c.435C>T | p.S145= | Synonymous | 3/6 | - | 1 |
3-46757060-G-C | c.435C>G | p.S145= | Synonymous | 3/6 | - | 1 |
3-46757060-G-T | c.435C>A | p.S145= | Synonymous | 3/6 | - | 1 |
3-46757064-G-C | c.431C>G | p.A144G | Missense | 3/6 | - | 1 |
3-46757066-A-G | c.429T>C | p.I143= | Synonymous | 3/6 | - | 1 |
3-46757066-A-T | c.429T>A | p.I143= | Synonymous | 3/6 | - | 1 |
3-46757072-G-A | c.423C>T | p.T141= | Synonymous | 3/6 | - | 1 |
3-46757072-G-C | c.423C>G | p.T141= | Synonymous | 3/6 | - | 1 |
3-46757072-G-T | c.423C>A | p.T141= | Synonymous | 3/6 | - | 1 |
3-46757073-G-A | c.422C>T | p.T141I | Missense | 3/6 | - | 1 |
3-46757076-C-T | c.419G>A | p.G140D | Missense | 3/6 | - | 1 |
3-46757077-C-A | c.418G>T | p.G140C | Missense | 3/6 | - | 1 |
3-46757077-C-G | c.418G>C | p.G140R | Missense | 3/6 | - | 1 |
3-46757080-C-A | c.415G>T | p.A139S | Missense | 3/6 | - | 1 |
3-46757084-G-A | c.411C>T | p.I137= | Synonymous | 3/6 | - | 1 |
3-46757084-G-T | c.411C>A | p.I137= | Synonymous | 3/6 | - | 2 |
3-46757103-C-T | c.392G>A | p.R131Q | Missense | 3/6 | - | 1 |
3-46757107-C-A | c.388G>T | p.V130L | Missense | 3/6 | - | 2 |
3-46757107-C-G | c.388G>C | p.V130L | Missense | 3/6 | - | 1 |
3-46757108-G-A | c.387C>T | p.S129= | Synonymous | 3/6 | - | 3 |
3-46757109-CT-AA | c.385_386delinsTT | p.S129F | Missense | 3/6 | - | 1 |
3-46757110-T-G | c.385A>C | p.S129R | Missense | 3/6 | - | 1 |
3-46757111-G-A | c.384C>T | p.V128= | Synonymous | 3/6 | - | 1 |
3-46757117-C-T | c.378G>A | p.W126* | Nonsense | 3/6 | - | 4 |
3-46757118-C-T | c.377G>A | p.W126* | Nonsense | 3/6 | - | 2 |
3-46757125-A-C | c.370T>G | p.W124G | Missense | 3/6 | - | 1 |
3-46757127-C-A | c.368G>T | p.R123L | Missense | 3/6 | - | 1 |
3-46757126-C-A | c.369G>T | p.R123= | Synonymous | 3/6 | - | 1 |
3-46757126-C-G | c.369G>C | p.R123= | Synonymous | 3/6 | - | 1 |
3-46757126-C-T | c.369G>A | p.R123= | Synonymous | 3/6 | - | 1 |
3-46757128-G-C | c.367C>G | p.R123G | Missense | 3/6 | - | 1 |
3-46757128-G-T | c.367C>A | p.R123= | Synonymous | 3/6 | - | 1 |
3-46757130-C-T | c.365G>A | p.R122Q | Missense | 3/6 | - | 2 |
3-46757139-G-A | c.356C>T | p.A119V | Missense | 3/6 | - | 4 |
3-46757143-C-T | c.352G>A | p.E118K | Missense | 3/6 | - | 1 |
3-46757146-G-A | c.349C>T | p.P117S | Missense | 3/6 | - | 3 |
3-46757153-G-T | c.342C>A | p.L114= | Synonymous | 3/6 | - | 2 |
3-46757161-G-A | c.334C>T | p.P112S | Missense | 3/6 | - | 1 |
3-46757164-C-T | c.331G>A | p.D111N | Missense | 3/6 | - | 3 |
3-46757170-C-T | c.325G>A | p.E109K | Missense | 3/6 | - | 2 |
3-46757175-G-A | c.320C>T | p.S107F | Missense | 3/6 | - | 1 |
3-46757186-G-A | c.309C>T | p.S103= | Synonymous | 3/6 | - | 1 |
3-46758837-G-A | c.307+90C>T | - | IntronicSNV | - | 2/5 | 1 |
3-46758903-G-A | c.307+24C>T | - | IntronicSNV | - | 2/5 | 1 |
3-46758903-G-C | c.307+24C>G | - | IntronicSNV | - | 2/5 | 1 |
3-46758929-C-T | c.305G>A | p.R102H | Missense | 2/6 | - | 2 |
3-46758935-G-T | c.299C>A | p.P100Q | Missense | 2/6 | - | 6 |
3-46758937-G-C | c.297C>G | p.D99E | Missense | 2/6 | - | 1 |
3-46758937-G-T | c.297C>A | p.D99E | Missense | 2/6 | - | 1 |
3-46758939-C-T | c.295G>A | p.D99N | Missense | 2/6 | - | 1 |
3-46758940-G-A | c.294C>T | p.V98= | Synonymous | 2/6 | - | 1 |
3-46758940-G-C | c.294C>G | p.V98= | Synonymous | 2/6 | - | 1 |
3-46758940-G-T | c.294C>A | p.V98= | Synonymous | 2/6 | - | 1 |
3-46758942-C-T | c.292G>A | p.V98I | Missense | 2/6 | - | 3 |
3-46758957-C-A | c.277G>T | p.V93F | Missense | 2/6 | - | 1 |
3-46758961-G-A | c.273C>T | p.F91= | Synonymous | 2/6 | - | 4 |
3-46758962-A-C | c.272T>G | p.F91C | Missense | 2/6 | - | 2 |
3-46758961-G-C | c.273C>G | p.F91L | Missense | 2/6 | - | 2 |
3-46758961-G-T | c.273C>A | p.F91L | Missense | 2/6 | - | 2 |
3-46758963-A-G | c.271T>C | p.F91L | Missense | 2/6 | - | 2 |
3-46758967-GG-CT | c.266_267delinsAG | p.T89K | Missense | 2/6 | - | 1 |
3-46758973-C-T | c.261G>A | p.M87I | Missense | 2/6 | - | 1 |
3-46758976-G-A | c.258C>T | p.T86= | Synonymous | 2/6 | - | 1 |
3-46758976-G-C | c.258C>G | p.T86= | Synonymous | 2/6 | - | 1 |
3-46758976-G-T | c.258C>A | p.T86= | Synonymous | 2/6 | - | 1 |
3-46758977-G-T | c.257C>A | p.T86N | Missense | 2/6 | - | 1 |
3-46758982-C-A | c.252G>T | p.S84= | Synonymous | 2/6 | - | 1 |
3-46758982-C-G | c.252G>C | p.S84= | Synonymous | 2/6 | - | 1 |
3-46758982-C-T | c.252G>A | p.S84= | Synonymous | 2/6 | - | 1 |
3-46758985-G-A | c.249C>T | p.P83= | Synonymous | 2/6 | - | 2 |
3-46758985-G-C | c.249C>G | p.P83= | Synonymous | 2/6 | - | 2 |
3-46758985-G-T | c.249C>A | p.P83= | Synonymous | 2/6 | - | 2 |
3-46758986-G-A | c.248C>T | p.P83L | Missense | 2/6 | - | 1 |
3-46758991-TGT-GTC | c.241_243delinsGAC | p.T81D | Missense | 2/6 | - | 1 |
3-46758995-T-A | c.239A>T | p.Q80L | Missense | 2/6 | - | 1 |
3-46758999-T-C | c.235A>G | p.T79A | Missense | 2/6 | - | 1 |
3-46759002-T-C | c.232A>G | p.T78A | Missense | 2/6 | - | 1 |
3-46759004-G-A | c.230C>T | p.P77L | Missense | 2/6 | - | 4 |
3-46759009-C-T | c.225G>A | p.Q75= | Synonymous | 2/6 | - | 2 |
3-46759010-T-G | c.224A>C | p.Q75P | Missense | 2/6 | - | 19 |
3-46759017-G-A | c.217C>T | p.L73F | Missense | 2/6 | - | 1 |
3-46759022-C-T | c.212G>A | p.R71H | Missense | 2/6 | - | 5 |
3-46759023-G-A | c.211C>T | p.R71C | Missense | 2/6 | - | 2 |
3-46759024-AGG-TTA | c.208_210delinsTAA | p.P70* | Nonsense | 2/6 | - | 1 |
3-46759028-C-T | c.206G>A | p.R69Q | Missense | 2/6 | - | 2 |
3-46759037-G-A | c.197C>T | p.P66L | Missense | 2/6 | - | 3 |
3-46759047-C-A | c.187G>T | p.A63S | Missense | 2/6 | - | 1 |
3-46759047-C-T | c.187G>A | p.A63T | Missense | 2/6 | - | 1 |
3-46759052-G-A | c.182C>T | p.P61L | Missense | 2/6 | - | 1 |
3-46759054-GAC-CAT | c.178_180delinsATG | p.V60M | Missense | 2/6 | - | 1 |
3-46759065-C-T | c.169G>A | p.V57I | Missense | 2/6 | - | 1 |
3-46759066-G-A | c.168C>T | p.S56= | Synonymous | 2/6 | - | 1 |
3-46759069-C-T | c.165G>A | p.Q55= | Synonymous | 2/6 | - | 1 |
3-46759073-T-C | c.161A>G | p.D54G | Missense | 2/6 | - | 1 |
3-46759076-G-A | c.158C>T | p.A53V | Missense | 2/6 | - | 1 |
3-46759077-C-T | c.157G>A | p.A53T | Missense | 2/6 | - | 2 |
3-46759087-A-C | c.147T>G | p.T49= | Synonymous | 2/6 | - | 2 |
3-46759087-A-G | c.147T>C | p.T49= | Synonymous | 2/6 | - | 1 |
3-46759087-A-T | c.147T>A | p.T49= | Synonymous | 2/6 | - | 1 |
3-46759091-G-A | c.143C>T | p.S48F | Missense | 2/6 | - | 2 |
3-46759096-C-A | c.138G>T | p.A46= | Synonymous | 2/6 | - | 2 |
3-46759096-C-G | c.138G>C | p.A46= | Synonymous | 2/6 | - | 2 |
3-46759096-C-T | c.138G>A | p.A46= | Synonymous | 2/6 | - | 3 |
3-46759097-GC-CA | c.136_137delinsTG | p.A46W | Missense | 2/6 | - | 1 |
3-46759102-C-T | c.132G>A | p.P44= | Synonymous | 2/6 | - | 2 |
3-46759103-G-A | c.131C>T | p.P44L | Missense | 2/6 | - | 6 |
3-46759106-G-T | c.128C>A | p.A43D | Missense | 2/6 | - | 1 |
3-46759107-C-T | c.127G>A | p.A43T | Missense | 2/6 | - | 1 |
3-46759110-C-T | c.124G>A | p.E42K | Missense | 2/6 | - | 2 |
3-46759116-C-A | c.118G>T | p.A40S | Missense | 2/6 | - | 1 |
3-46759116-C-T | c.118G>A | p.A40T | Missense | 2/6 | - | 7 |
3-46759117-G-A | c.117C>T | p.G39= | Synonymous | 2/6 | - | 1 |
3-46759117-G-C | c.117C>G | p.G39= | Synonymous | 2/6 | - | 1 |
3-46759117-G-T | c.117C>A | p.G39= | Synonymous | 2/6 | - | 1 |
3-46759173-G-A | c.106+36C>T | - | IntronicSNV | - | 1/5 | 1 |
3-46759218-T-A | c.97A>T | p.R33W | Missense | 1/6 | - | 1 |
3-46759218-T-TAAG | c.96_97insCTT | p.L32dup | InFrameInsertion | 1/6 | - | 2 |
3-46759219-C-A | c.96G>T | p.L32= | Synonymous | 1/6 | - | 2 |
3-46759219-C-G | c.96G>C | p.L32= | Synonymous | 1/6 | - | 2 |
3-46759219-C-T | c.96G>A | p.L32= | Synonymous | 1/6 | - | 2 |
3-46759221-G-A | c.94C>T | p.L32= | Synonymous | 1/6 | - | 3 |
3-46759222-C-T | c.93G>A | p.L31= | Synonymous | 1/6 | - | 1 |
3-46759226-A-AGAC | c.88_89insGTC | p.L29_L30insR | InFrameInsertion | 1/6 | - | 1 |
3-46759227-G-GAGC | c.87_88insGCT | p.L29_L30insA | InFrameInsertion | 1/6 | - | 3 |
3-46759230-G-A | c.85C>T | p.L29F | Missense | 1/6 | - | 1 |
3-46759231-C-A | c.84G>T | p.L28= | Synonymous | 1/6 | - | 1 |
3-46759231-C-G | c.84G>C | p.L28= | Synonymous | 1/6 | - | 1 |
3-46759231-C-T | c.84G>A | p.L28= | Synonymous | 1/6 | - | 2 |
3-46759233-G-A | c.82C>T | p.L28= | Synonymous | 1/6 | - | 1 |
3-46759238-AG-GA | c.76_77delinsTC | p.L26S | Missense | 1/6 | - | 1 |
3-46759240-C-AAGA | c.75delinsTCTT | p.L32dup | MultiAAMissense | 1/6 | - | 1 |
3-46759243-G-C | c.72C>G | p.A24= | Synonymous | 1/6 | - | 1 |
3-46759249-G-A | c.66C>T | p.A22= | Synonymous | 1/6 | - | 2 |
3-46759249-G-C | c.66C>G | p.A22= | Synonymous | 1/6 | - | 1 |
3-46759249-G-T | c.66C>A | p.A22= | Synonymous | 1/6 | - | 1 |
3-46759251-C-T | c.64G>A | p.A22T | Missense | 1/6 | - | 4 |
3-46759256-G-A | c.59C>T | p.S20F | Missense | 1/6 | - | 2 |
3-46759257-A-AG | c.57dup | p.S20Lfs*32 | Frameshift | 1/6 | - | 1 |
3-46759257-AG-A | c.57del | p.S20Pfs*13 | Frameshift | 1/6 | - | 1 |
3-46759262-GC-CG | c.52_53delinsCG | p.A18R | Missense | 1/6 | - | 1 |
3-46759262-GC-TA | c.52_53delinsTA | p.A18Y | Missense | 1/6 | - | 1 |
3-46759263-C-G | c.52G>C | p.A18P | Missense | 1/6 | - | 1 |
3-46759263-C-T | c.52G>A | p.A18T | Missense | 1/6 | - | 1 |
3-46759267-C-A | c.48G>T | p.T16= | Synonymous | 1/6 | - | 2 |
3-46759267-C-T | c.48G>A | p.T16= | Synonymous | 1/6 | - | 2 |
3-46759271-C-T | c.44G>A | p.R15Q | Missense | 1/6 | - | 1 |
3-46759275-G-A | c.40C>T | p.P14S | Missense | 1/6 | - | 1 |
3-46759276-G-A | c.39C>T | p.R13= | Synonymous | 1/6 | - | 2 |
3-46759283-C-T | c.32G>A | p.G11E | Missense | 1/6 | - | 2 |
3-46759285-G-A | c.30C>T | p.R10= | Synonymous | 1/6 | - | 2 |
3-46759285-G-C | c.30C>G | p.R10= | Synonymous | 1/6 | - | 1 |
3-46759285-G-T | c.30C>A | p.R10= | Synonymous | 1/6 | - | 1 |
3-46759286-C-T | c.29G>A | p.R10H | Missense | 1/6 | - | 1 |
3-46759287-G-A | c.28C>T | p.R10C | Missense | 1/6 | - | 1 |
3-46759293-C-T | c.22G>A | p.V8I | Missense | 1/6 | - | 2 |
3-46759313-A-G | c.2T>C | p.M1? | Missense | 1/6 | - | 1 |