Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
17-74306830-T-C | c.*793A>G | - | IntergenicSNV | 10/10 | - | 1 |
17-74306830-T-G | c.*793A>C | - | IntergenicSNV | 10/10 | - | 1 |
17-74307506-A-G | c.*117T>C | - | 3-UTRSNV | 10/10 | - | 2 |
17-74307626-G-A | c.1155C>T | p.D385= | Synonymous | 10/10 | - | 4 |
17-74307632-C-A | c.1149G>T | p.V383= | Synonymous | 10/10 | - | 1 |
17-74307632-CAC-GAT | c.1147_1149delinsATC | p.V383I | Missense | 10/10 | - | 1 |
17-74307632-C-G | c.1149G>C | p.V383= | Synonymous | 10/10 | - | 1 |
17-74307632-C-T | c.1149G>A | p.V383= | Synonymous | 10/10 | - | 1 |
17-74307634-C-T | c.1147G>A | p.V383M | Missense | 10/10 | - | 1 |
17-74307644-T-C | c.1137A>G | p.R379= | Synonymous | 10/10 | - | 1 |
17-74307645-C-T | c.1136G>A | p.R379Q | Missense | 10/10 | - | 2 |
17-74307663-G-A | c.1118C>T | p.S373F | Missense | 10/10 | - | 4 |
17-74307666-T-C | c.1115A>G | p.E372G | Missense | 10/10 | - | 1 |
17-74307669-C-A | c.1112G>T | p.G371V | Missense | 10/10 | - | 1 |
17-74307681-C-A | c.1100G>T | p.R367I | Missense | 10/10 | - | 1 |
17-74307685-G-A | c.1096C>T | p.R366W | Missense | 10/10 | - | 5 |
17-74307690-G-A | c.1091C>T | p.A364V | Missense | 10/10 | - | 1 |
17-74307700-G-T | c.1081C>A | p.L361I | Missense | 10/10 | - | 3 |
17-74307703-AT-A | c.1078del | p.I360Ffs*47 | Frameshift | 10/10 | - | 1 |
17-74307704-C-T | c.1077G>A | p.L359= | Synonymous | 10/10 | - | 1 |
17-74307706-A-G | c.1075T>C | p.L359= | Synonymous | 10/10 | - | 1 |
17-74307723-T-C | c.1058A>G | p.K353R | Missense | 10/10 | - | 1 |
17-74307726-A-T | c.1055T>A | p.I352K | Missense | 10/10 | - | 1 |
17-74307727-ATCTTGGG-A | c.1048_1054del | p.P350* | Frameshift | 10/10 | - | 1 |
17-74307728-C-A | c.1053G>T | p.K351N | Missense | 10/10 | - | 1 |
17-74307728-C-G | c.1053G>C | p.K351N | Missense | 10/10 | - | 1 |
17-74307730-T-C | c.1051A>G | p.K351E | Missense | 10/10 | - | 1 |
17-74307733-G-A | c.1048C>T | p.P350S | Missense | 10/10 | - | 4 |
17-74307733-G-T | c.1048C>A | p.P350T | Missense | 10/10 | - | 1 |
17-74307735-C-T | c.1046G>A | p.C349Y | Missense | 10/10 | - | 1 |
17-74307734-ACATTGCAG-A | c.1039_1046del | p.L347Sfs*14 | Frameshift | 10/10 | - | 1 |
17-74307737-T-C | c.1044A>G | p.Q348= | Synonymous | 10/10 | - | 13 |
17-74307740-C-A | c.1041G>T | p.L347= | Synonymous | 10/10 | - | 1 |
17-74307740-C-G | c.1041G>C | p.L347= | Synonymous | 10/10 | - | 1 |
17-74307740-C-T | c.1041G>A | p.L347= | Synonymous | 10/10 | - | 1 |
17-74307742-G-A | c.1039C>T | p.L347= | Synonymous | 10/10 | - | 1 |
17-74307747-T-C | c.1034A>G | p.Q345R | Missense | 10/10 | - | 1 |
17-74307752-C-T | c.1029G>A | p.E343= | Synonymous | 10/10 | - | 1 |
17-74307759-G-A | c.1022C>T | p.P341L | Missense | 10/10 | - | 1 |
17-74307761-G-A | c.1020C>T | p.V340= | Synonymous | 10/10 | - | 2 |
17-74307767-A-G | c.1014T>C | p.N338= | Synonymous | 10/10 | - | 3 |
17-74307771-G-A | c.1010C>T | p.T337M | Missense | 10/10 | - | 1 |
17-74307771-G-T | c.1010C>A | p.T337K | Missense | 10/10 | - | 1 |
17-74307775-C-A | c.1006G>T | p.V336L | Missense | 10/10 | - | 1 |
17-74307775-C-G | c.1006G>C | p.V336L | Missense | 10/10 | - | 1 |
17-74307778-C-T | c.1003G>A | p.V335M | Missense | 10/10 | - | 2 |
17-74308734-T-C | c.999+217A>G | - | IntronicSNV | - | 9/9 | 2 |
17-74308891-T-G | c.999+60A>C | - | IntronicSNV | - | 9/9 | 2 |
17-74308953-C-T | c.997G>A | p.E333K | Missense | 9/10 | - | 4 |
17-74308954-G-A | c.996C>T | p.D332= | Synonymous | 9/10 | - | 1 |
17-74308956-C-T | c.994G>A | p.D332N | Missense | 9/10 | - | 4 |
17-74308958-A-G | c.992T>C | p.V331A | Missense | 9/10 | - | 3 |
17-74308961-G-A | c.989C>T | p.S330F | Missense | 9/10 | - | 1 |
17-74308961-G-T | c.989C>A | p.S330Y | Missense | 9/10 | - | 1 |
17-74308964-G-A | c.986C>T | p.S329F | Missense | 9/10 | - | 3 |
17-74308964-G-C | c.986C>G | p.S329C | Missense | 9/10 | - | 1 |
17-74308966-C-A | c.984G>T | p.E328D | Missense | 9/10 | - | 1 |
17-74308966-C-G | c.984G>C | p.E328D | Missense | 9/10 | - | 1 |
17-74308973-A-C | c.977T>G | p.I326S | Missense | 9/10 | - | 3 |
17-74308973-A-T | c.977T>A | p.I326N | Missense | 9/10 | - | 1 |
17-74308990-T-A | c.960A>T | p.A320= | Synonymous | 9/10 | - | 1 |
17-74308990-T-C | c.960A>G | p.A320= | Synonymous | 9/10 | - | 1 |
17-74308990-T-G | c.960A>C | p.A320= | Synonymous | 9/10 | - | 1 |
17-74308993-A-C | c.957T>G | p.S319= | Synonymous | 9/10 | - | 1 |
17-74308993-A-G | c.957T>C | p.S319= | Synonymous | 9/10 | - | 1 |
17-74308993-A-T | c.957T>A | p.S319= | Synonymous | 9/10 | - | 1 |
17-74308994-G-C | c.956C>G | p.S319C | Missense | 9/10 | - | 2 |
17-74308998-G-A | c.952C>T | p.L318= | Synonymous | 9/10 | - | 1 |
17-74309011-G-A | c.939C>T | p.A313= | Synonymous | 9/10 | - | 1 |
17-74309014-C-A | c.936G>T | p.M312I | Missense | 9/10 | - | 1 |
17-74309014-C-G | c.936G>C | p.M312I | Missense | 9/10 | - | 1 |
17-74309014-C-T | c.936G>A | p.M312I | Missense | 9/10 | - | 1 |
17-74309023-G-A | c.927C>T | p.I309= | Synonymous | 9/10 | - | 1 |
17-74309023-G-T | c.927C>A | p.I309= | Synonymous | 9/10 | - | 1 |
17-74309032-G-A | c.918C>T | p.A306= | Synonymous | 9/10 | - | 1 |
17-74309037-C-T | c.913G>A | p.G305S | Missense | 9/10 | - | 1 |
17-74309047-C-A | c.903G>T | p.L301= | Synonymous | 9/10 | - | 1 |
17-74309047-C-G | c.903G>C | p.L301= | Synonymous | 9/10 | - | 1 |
17-74309047-C-T | c.903G>A | p.L301= | Synonymous | 9/10 | - | 1 |
17-74309049-G-A | c.901C>T | p.L301= | Synonymous | 9/10 | - | 1 |
17-74309050-G-A | c.900C>T | p.I300= | Synonymous | 9/10 | - | 1 |
17-74309053-C-G | c.897G>C | p.E299D | Missense | 9/10 | - | 1 |
17-74309054-T-C | c.896A>G | p.E299G | Missense | 9/10 | - | 1 |
17-74309059-G-A | c.891C>T | p.A297= | Synonymous | 9/10 | - | 2 |
17-74309071-A-C | c.879T>G | p.S293R | Missense | 9/10 | - | 3 |
17-74309083-G-A | c.867C>T | p.D289= | Synonymous | 9/10 | - | 1 |
17-74309084-T-G | c.866A>C | p.D289A | Missense | 9/10 | - | 1 |
17-74309086-A-G | c.864T>C | p.I288= | Synonymous | 9/10 | - | 2 |
17-74309086-A-T | c.864T>A | p.I288= | Synonymous | 9/10 | - | 2 |
17-74309091-T-C | c.859A>G | p.I287V | Missense | 9/10 | - | 1 |
17-74309093-T-C | c.857A>G | p.D286G | Missense | 9/10 | - | 1 |
17-74309425-T-A | c.853-328A>T | - | IntronicSNV | - | 8/9 | 1 |
17-74309425-T-C | c.853-328A>G | - | IntronicSNV | - | 8/9 | 1 |
17-74309904-C-T | c.850G>A | p.V284M | Missense | 8/10 | - | 1 |
17-74309905-G-A | c.849C>T | p.I283= | Synonymous | 8/10 | - | 1 |
17-74309905-G-T | c.849C>A | p.I283= | Synonymous | 8/10 | - | 1 |
17-74309907-T-C | c.847A>G | p.I283V | Missense | 8/10 | - | 1 |
17-74309913-C-T | c.841G>A | p.A281T | Missense | 8/10 | - | 2 |
17-74309914-G-A | c.840C>T | p.I280= | Synonymous | 8/10 | - | 2 |
17-74309918-C-T | c.836G>A | p.R279H | Missense | 8/10 | - | 3 |
17-74309919-G-A | c.835C>T | p.R279C | Missense | 8/10 | - | 1 |
17-74309925-C-T | c.829G>A | p.G277R | Missense | 8/10 | - | 1 |
17-74309931-C-A | c.823G>T | p.D275Y | Missense | 8/10 | - | 1 |
17-74309931-C-T | c.823G>A | p.D275N | Missense | 8/10 | - | 1 |
17-74309935-A-C | c.819T>G | p.V273= | Synonymous | 8/10 | - | 1 |
17-74309935-A-G | c.819T>C | p.V273= | Synonymous | 8/10 | - | 1 |
17-74309935-A-T | c.819T>A | p.V273= | Synonymous | 8/10 | - | 1 |
17-74309942-G-A | c.812C>T | p.T271I | Missense | 8/10 | - | 1 |
17-74309946-T-C | c.808A>G | p.I270V | Missense | 8/10 | - | 1 |
17-74309947-C-T | c.807G>A | p.P269= | Synonymous | 8/10 | - | 1 |
17-74309953-C-T | c.801G>A | p.K267= | Synonymous | 8/10 | - | 3 |
17-74309955-T-A | c.799A>T | p.K267* | Nonsense | 8/10 | - | 1 |
17-74310084-A-C | c.782-112T>G | - | IntronicSNV | - | 7/9 | 2 |
17-74310084-A-T | c.782-112T>A | - | IntronicSNV | - | 7/9 | 2 |
17-74310984-T-C | c.782-1012A>G | - | IntronicSNV | - | 7/9 | 1 |
17-74312273-G-A | c.782-2301C>T | - | IntronicSNV | - | 7/9 | 1 |
17-74315177-G-C | c.782-5205C>G | - | IntronicSNV | - | 7/9 | 1 |
17-74315177-G-T | c.782-5205C>A | - | IntronicSNV | - | 7/9 | 1 |
17-74316434-A-T | c.782-6462T>A | - | IntronicSNV | - | 7/9 | 1 |
17-74321344-C-G | c.781+3454G>C | - | IntronicSNV | - | 7/9 | 1 |
17-74321344-C-T | c.781+3454G>A | - | IntronicSNV | - | 7/9 | 1 |
17-74322480-GAA-G | c.781+2316_781+2317del | - | IntronicDeletion | - | 7/9 | 1 |
17-74324729-C-A | c.781+69G>T | - | IntronicSNV | - | 7/9 | 7 |
17-74324800-G-A | c.779C>T | p.P260L | Missense | 7/10 | - | 1 |
17-74324804-A-C | c.775T>G | p.L259V | Missense | 7/10 | - | 1 |
17-74324814-T-A | c.765A>T | p.P255= | Synonymous | 7/10 | - | 1 |
17-74324819-G-A | c.760C>T | p.H254Y | Missense | 7/10 | - | 2 |
17-74324820-CAC-GAT | c.757_759delinsATC | p.V253I | Missense | 7/10 | - | 1 |
17-74324822-C-T | c.757G>A | p.V253M | Missense | 7/10 | - | 1 |
17-74324824-G-A | c.755C>T | p.T252I | Missense | 7/10 | - | 1 |
17-74324824-G-C | c.755C>G | p.T252S | Missense | 7/10 | - | 1 |
17-74324825-T-A | c.754A>T | p.T252S | Missense | 7/10 | - | 1 |
17-74324828-C-T | c.751G>A | p.A251T | Missense | 7/10 | - | 1 |
17-74324843-G-GCCCC | c.735_736insGGGG | p.P246Gfs*42 | Frameshift | 7/10 | - | 1 |
17-74324845-G-A | c.734C>T | p.P245L | Missense | 7/10 | - | 1 |
17-74324847-G-A | c.732C>T | p.S244= | Synonymous | 7/10 | - | 1 |
17-74324847-G-C | c.732C>G | p.S244= | Synonymous | 7/10 | - | 1 |
17-74324847-G-T | c.732C>A | p.S244= | Synonymous | 7/10 | - | 1 |
17-74324848-G-A | c.731C>T | p.S244F | Missense | 7/10 | - | 1 |
17-74324854-C-T | c.725G>A | p.R242H | Missense | 7/10 | - | 1 |
17-74324855-G-A | c.724C>T | p.R242C | Missense | 7/10 | - | 1 |
17-74324864-C-T | c.715G>A | p.D239N | Missense | 7/10 | - | 2 |
17-74324870-C-T | c.709G>A | p.D237N | Missense | 7/10 | - | 1 |
17-74324871-C-A | c.708G>T | p.L236= | Synonymous | 7/10 | - | 1 |
17-74324871-C-G | c.708G>C | p.L236= | Synonymous | 7/10 | - | 1 |
17-74324871-C-T | c.708G>A | p.L236= | Synonymous | 7/10 | - | 1 |
17-74324873-G-A | c.706C>T | p.L236= | Synonymous | 7/10 | - | 1 |
17-74324873-G-C | c.706C>G | p.L236V | Missense | 7/10 | - | 1 |
17-74324876-C-T | c.703G>A | p.E235K | Missense | 7/10 | - | 1 |
17-74324877-C-A | c.702G>T | p.T234= | Synonymous | 7/10 | - | 1 |
17-74324877-C-G | c.702G>C | p.T234= | Synonymous | 7/10 | - | 1 |
17-74324877-C-T | c.702G>A | p.T234= | Synonymous | 7/10 | - | 1 |
17-74324878-G-A | c.701C>T | p.T234M | Missense | 7/10 | - | 1 |
17-74324891-C-T | c.688G>A | p.E230K | Missense | 7/10 | - | 1 |
17-74324893-C-T | c.686G>A | p.G229E | Missense | 7/10 | - | 1 |
17-74324895-G-A | c.684C>T | p.H228= | Synonymous | 7/10 | - | 1 |
17-74324902-A-G | c.677T>C | p.V226A | Missense | 7/10 | - | 1 |
17-74324903-C-T | c.676G>A | p.V226I | Missense | 7/10 | - | 1 |
17-74324907-C-A | c.672G>T | p.L224F | Missense | 7/10 | - | 1 |
17-74324917-C-G | c.662G>C | p.R221P | Missense | 7/10 | - | 1 |
17-74324917-C-T | c.662G>A | p.R221H | Missense | 7/10 | - | 2 |
17-74324918-G-A | c.661C>T | p.R221C | Missense | 7/10 | - | 2 |
17-74324920-A-G | c.659T>C | p.L220P | Missense | 7/10 | - | 2 |
17-74324927-C-T | c.652G>A | p.E218K | Missense | 7/10 | - | 1 |
17-74324934-G-A | c.645C>T | p.S215= | Synonymous | 7/10 | - | 4 |
17-74324934-G-C | c.645C>G | p.S215= | Synonymous | 7/10 | - | 3 |
17-74324934-G-T | c.645C>A | p.S215= | Synonymous | 7/10 | - | 3 |
17-74324943-C-A | c.636G>T | p.R212S | Missense | 7/10 | - | 1 |
17-74324943-C-G | c.636G>C | p.R212S | Missense | 7/10 | - | 2 |
17-74325276-C-T | c.636-333G>A | - | IntronicSNV | - | 6/9 | 1 |
17-74325868-T-C | c.635+256A>G | - | IntronicSNV | - | 6/9 | 1 |
17-74325994-G-A | c.635+130C>T | - | IntronicSNV | - | 6/9 | 1 |
17-74326125-T-A | c.634A>T | p.R212W | Missense | 6/10 | - | 1 |
17-74326133-G-A | c.626C>T | p.A209V | Missense | 6/10 | - | 1 |
17-74326137-C-T | c.622G>A | p.D208N | Missense | 6/10 | - | 1 |
17-74326142-G-A | c.617C>T | p.S206F | Missense | 6/10 | - | 5 |
17-74326144-C-T | c.615G>A | p.K205= | Synonymous | 6/10 | - | 1 |
17-74326154-A-G | c.605T>C | p.I202T | Missense | 6/10 | - | 3 |
17-74326166-C-T | c.593G>A | p.R198K | Missense | 6/10 | - | 1 |
17-74326167-T-C | c.592A>G | p.R198G | Missense | 6/10 | - | 1 |
17-74326170-A-G | c.589T>C | p.Y197H | Missense | 6/10 | - | 2 |
17-74326173-T-C | c.586A>G | p.N196D | Missense | 6/10 | - | 1 |
17-74326553-G-A | c.579+79C>T | - | IntronicSNV | - | 5/9 | 9 |
17-74326556-A-T | c.579+76T>A | - | IntronicSNV | - | 5/9 | 9 |
17-74326631-C-T | c.579+1G>A | - | IntronicSNV | - | 5/9 | 1 |
17-74326632-T-C | c.579A>G | p.E193= | Synonymous | 5/10 | - | 1 |
17-74326633-T-C | c.578A>G | p.E193G | Missense | 5/10 | - | 2 |
17-74326634-C-G | c.577G>C | p.E193Q | Missense | 5/10 | - | 2 |
17-74326637-C-T | c.574G>A | p.E192K | Missense | 5/10 | - | 2 |
17-74326641-G-A | c.570C>T | p.I190= | Synonymous | 5/10 | - | 4 |
17-74326644-A-C | c.567T>G | p.Y189* | Nonsense | 5/10 | - | 1 |
17-74326644-A-T | c.567T>A | p.Y189* | Nonsense | 5/10 | - | 1 |
17-74326647-C-T | c.564G>A | p.Q188= | Synonymous | 5/10 | - | 1 |
17-74326656-G-A | c.555C>T | p.F185= | Synonymous | 5/10 | - | 4 |
17-74326660-G-A | c.551C>T | p.P184L | Missense | 5/10 | - | 5 |
17-74326662-T-A | c.549A>T | p.S183= | Synonymous | 5/10 | - | 1 |
17-74326662-T-C | c.549A>G | p.S183= | Synonymous | 5/10 | - | 1 |
17-74326662-T-G | c.549A>C | p.S183= | Synonymous | 5/10 | - | 1 |
17-74326663-G-A | c.548C>T | p.S183L | Missense | 5/10 | - | 3 |
17-74326665-G-A | c.546C>T | p.A182= | Synonymous | 5/10 | - | 1 |
17-74326665-G-C | c.546C>G | p.A182= | Synonymous | 5/10 | - | 1 |
17-74326667-C-A | c.544G>T | p.A182S | Missense | 5/10 | - | 1 |
17-74326678-T-C | c.533A>G | p.D178G | Missense | 5/10 | - | 1 |
17-74326692-G-A | c.519C>T | p.F173= | Synonymous | 5/10 | - | 2 |
17-74326697-A-T | c.514T>A | p.F172I | Missense | 5/10 | - | 1 |
17-74326702-T-G | c.509A>C | p.Q170P | Missense | 5/10 | - | 1 |
17-74326705-A-T | c.506T>A | p.I169K | Missense | 5/10 | - | 1 |
17-74326709-C-T | c.502G>A | p.E168K | Missense | 5/10 | - | 1 |
17-74326710-C-T | c.501G>A | p.K167= | Synonymous | 5/10 | - | 1 |
17-74326714-T-C | c.497A>G | p.Q166R | Missense | 5/10 | - | 1 |
17-74326715-G-A | c.496C>T | p.Q166* | Nonsense | 5/10 | - | 1 |
17-74326725-C-A | c.486G>T | p.M162I | Missense | 5/10 | - | 1 |
17-74326725-C-G | c.486G>C | p.M162I | Missense | 5/10 | - | 1 |
17-74326725-C-T | c.486G>A | p.M162I | Missense | 5/10 | - | 1 |
17-74326726-A-G | c.485T>C | p.M162T | Missense | 5/10 | - | 1 |
17-74326726-ATAG-A | c.482_484del | p.T161del | InFrameDeletion | 5/10 | - | 1 |
17-74326735-A-G | c.476T>C | p.I159T | Missense | 5/10 | - | 1 |
17-74328345-T-C | c.462A>G | p.A154= | Synonymous | 4/10 | - | 1 |
17-74328351-C-T | c.456G>A | p.A152= | Synonymous | 4/10 | - | 1 |
17-74328352-G-A | c.455C>T | p.A152V | Missense | 4/10 | - | 2 |
17-74328353-C-A | c.454G>T | p.A152S | Missense | 4/10 | - | 1 |
17-74328358-A-G | c.449T>C | p.M150T | Missense | 4/10 | - | 1 |
17-74328366-TAG-AAA | c.439_441delinsTTT | p.L147F | Missense | 4/10 | - | 1 |
17-74328378-CAC-GAT | c.427_429delinsATC | p.V143I | Missense | 4/10 | - | 1 |
17-74328385-G-A | c.422C>T | p.S141F | Missense | 4/10 | - | 6 |
17-74328389-C-T | c.418G>A | p.G140S | Missense | 4/10 | - | 1 |
17-74328391-C-T | c.416G>A | p.R139K | Missense | 4/10 | - | 5 |
17-74328396-CCT-ATG | c.409_411delinsCAT | p.R137H | Missense | 4/10 | - | 1 |
17-74328397-C-A | c.410G>T | p.R137M | Missense | 4/10 | - | 2 |
17-74328401-T-A | c.406A>T | p.M136L | Missense | 4/10 | - | 1 |
17-74328401-T-G | c.406A>C | p.M136L | Missense | 4/10 | - | 1 |
17-74328402-C-T | c.405G>A | p.K135= | Synonymous | 4/10 | - | 1 |
17-74328409-T-G | c.398A>C | p.Q133P | Missense | 4/10 | - | 1 |
17-74328411-C-T | c.396G>A | p.K132= | Synonymous | 4/10 | - | 2 |
17-74328414-G-A | c.393C>T | p.S131= | Synonymous | 4/10 | - | 2 |
17-74328420-G-A | c.387C>T | p.P129= | Synonymous | 4/10 | - | 1 |
17-74328421-G-A | c.386C>T | p.P129L | Missense | 4/10 | - | 1 |
17-74328423-G-A | c.384C>T | p.F128= | Synonymous | 4/10 | - | 1 |
17-74328427-T-G | c.380A>C | p.Y127S | Missense | 4/10 | - | 2 |
17-74328430-G-A | c.377C>T | p.P126L | Missense | 4/10 | - | 4 |
17-74328431-G-A | c.376C>T | p.P126S | Missense | 4/10 | - | 2 |
17-74328431-G-T | c.376C>A | p.P126T | Missense | 4/10 | - | 1 |
17-74328433-A-G | c.374T>C | p.I125T | Missense | 4/10 | - | 1 |
17-74328435-G-A | c.372C>T | p.V124= | Synonymous | 4/10 | - | 2 |
17-74328435-G-C | c.372C>G | p.V124= | Synonymous | 4/10 | - | 1 |
17-74328435-G-T | c.372C>A | p.V124= | Synonymous | 4/10 | - | 1 |
17-74328440-C-A | c.367G>T | p.G123W | Missense | 4/10 | - | 1 |
17-74328443-T-G | c.364A>C | p.I122L | Missense | 4/10 | - | 1 |
17-74328445-A-G | c.362T>C | p.I121T | Missense | 4/10 | - | 3 |
17-74328450-C-T | c.357G>A | p.R119= | Synonymous | 4/10 | - | 1 |
17-74328457-C-G | c.350G>C | p.C117S | Missense | 4/10 | - | 1 |
17-74328468-C-A | c.339G>T | p.L113= | Synonymous | 4/10 | - | 1 |
17-74328468-C-G | c.339G>C | p.L113= | Synonymous | 4/10 | - | 1 |
17-74328468-C-T | c.339G>A | p.L113= | Synonymous | 4/10 | - | 2 |
17-74328470-G-A | c.337C>T | p.L113= | Synonymous | 4/10 | - | 1 |
17-74328471-T-A | c.336A>T | p.A112= | Synonymous | 4/10 | - | 2 |
17-74328471-T-C | c.336A>G | p.A112= | Synonymous | 4/10 | - | 2 |
17-74328471-T-G | c.336A>C | p.A112= | Synonymous | 4/10 | - | 2 |
17-74328472-G-A | c.335C>T | p.A112V | Missense | 4/10 | - | 1 |
17-74328481-A-G | c.326T>C | p.M109T | Missense | 4/10 | - | 1 |
17-74328482-T-C | c.325A>G | p.M109V | Missense | 4/10 | - | 1 |
17-74328483-G-A | c.324C>T | p.I108= | Synonymous | 4/10 | - | 3 |
17-74328489-CAA-GAT | c.316_318delinsATC | p.L106I | Missense | 4/10 | - | 1 |
17-74328490-A-C | c.317T>G | p.L106W | Missense | 4/10 | - | 1 |
17-74328492-C-A | c.315G>T | p.E105D | Missense | 4/10 | - | 1 |
17-74328494-C-A | c.313G>T | p.E105* | Nonsense | 4/10 | - | 2 |
17-74328498-C-T | c.309G>A | p.V103= | Synonymous | 4/10 | - | 1 |
17-74328502-G-A | c.305C>T | p.A102V | Missense | 4/10 | - | 1 |
17-74328576-C-G | c.291-60G>C | - | IntronicSNV | - | 3/9 | 7 |
17-74328686-T-C | c.291-170A>G | - | IntronicSNV | - | 3/9 | 5 |
17-74328704-T-C | c.291-188A>G | - | IntronicSNV | - | 3/9 | 4 |
17-74336545-T-C | c.290+4207A>G | - | IntronicSNV | - | 3/9 | 2 |
17-74338471-C-T | c.290+2281G>A | - | IntronicSNV | - | 3/9 | 1 |
17-74340752-C-G | c.290G>C | p.R97T | Missense | 3/10 | - | 1 |
17-74340755-G-A | c.287C>T | p.P96L | Missense | 3/10 | - | 2 |
17-74340756-G-A | c.286C>T | p.P96S | Missense | 3/10 | - | 1 |
17-74340771-T-C | c.271A>G | p.I91V | Missense | 3/10 | - | 1 |
17-74340772-G-A | c.270C>T | p.F90= | Synonymous | 3/10 | - | 1 |
17-74340787-AC-TT | c.254_255delinsAA | p.R85Q | Missense | 3/10 | - | 1 |
17-74340789-G-A | c.253C>T | p.R85C | Missense | 3/10 | - | 3 |
17-74340790-A-C | c.252T>G | p.V84= | Synonymous | 3/10 | - | 1 |
17-74340790-A-G | c.252T>C | p.V84= | Synonymous | 3/10 | - | 1 |
17-74340790-A-T | c.252T>A | p.V84= | Synonymous | 3/10 | - | 1 |
17-74340794-G-A | c.248C>T | p.S83F | Missense | 3/10 | - | 2 |
17-74340808-A-C | c.234T>G | p.V78= | Synonymous | 3/10 | - | 1 |
17-74340808-A-G | c.234T>C | p.V78= | Synonymous | 3/10 | - | 1 |
17-74340808-A-T | c.234T>A | p.V78= | Synonymous | 3/10 | - | 1 |
17-74340809-A-T | c.233T>A | p.V78D | Missense | 3/10 | - | 1 |
17-74340810-C-T | c.232G>A | p.V78I | Missense | 3/10 | - | 1 |
17-74340813-T-C | c.229A>G | p.R77G | Missense | 3/10 | - | 1 |
17-74340815-G-A | c.227C>T | p.T76I | Missense | 3/10 | - | 1 |
17-74344427-G-A | c.223+183C>T | - | IntronicSNV | - | 2/9 | 1 |
17-74344578-A-C | c.223+32T>G | - | IntronicSNV | - | 2/9 | 1 |
17-74344583-T-A | c.223+27A>T | - | IntronicSNV | - | 2/9 | 1 |
17-74344610-C-G | c.223G>C | p.E75Q | Missense | 2/10 | - | 1 |
17-74344617-G-A | c.216C>T | p.T72= | Synonymous | 2/10 | - | 1 |
17-74344617-G-C | c.216C>G | p.T72= | Synonymous | 2/10 | - | 1 |
17-74344617-G-T | c.216C>A | p.T72= | Synonymous | 2/10 | - | 1 |
17-74344618-G-A | c.215C>T | p.T72I | Missense | 2/10 | - | 1 |
17-74344622-C-T | c.211G>A | p.E71K | Missense | 2/10 | - | 1 |
17-74344629-TAC-AAA | c.202_204delinsTTT | p.V68F | Missense | 2/10 | - | 1 |
17-74344631-C-T | c.202G>A | p.V68I | Missense | 2/10 | - | 6 |
17-74344633-A-G | c.200T>C | p.V67A | Missense | 2/10 | - | 1 |
17-74344641-C-T | c.192G>A | p.G64= | Synonymous | 2/10 | - | 1 |
17-74344656-AAG-CCA | c.175_177delinsTGG | p.L59W | Missense | 2/10 | - | 1 |
17-74344656-AAG-CTC | c.175_177delinsGAG | p.L59E | Missense | 2/10 | - | 1 |
17-74344656-AA-TT | c.176_177inv | p.L59Q | Missense | 2/10 | - | 1 |
17-74344657-A-C | c.176T>G | p.L59R | Missense | 2/10 | - | 1 |
17-74344657-A-T | c.176T>A | p.L59H | Missense | 2/10 | - | 1 |
17-74344658-G-C | c.175C>G | p.L59V | Missense | 2/10 | - | 1 |
17-74344660-C-T | c.173G>A | p.R58H | Missense | 2/10 | - | 1 |
17-74344661-G-A | c.172C>T | p.R58C | Missense | 2/10 | - | 1 |
17-74349515-G-A | c.170+100C>T | - | IntronicSNV | - | 1/9 | 1 |
17-74349586-C-A | c.170+29G>T | - | IntronicSNV | - | 1/9 | 1 |
17-74349586-C-T | c.170+29G>A | - | IntronicSNV | - | 1/9 | 1 |
17-74349607-C-G | c.170+8G>C | - | IntronicSNV | - | 1/9 | 1 |
17-74349607-C-T | c.170+8G>A | - | IntronicSNV | - | 1/9 | 1 |
17-74349648-G-A | c.137C>T | p.A46V | Missense | 1/10 | - | 2 |
17-74349649-C-T | c.136G>A | p.A46T | Missense | 1/10 | - | 1 |
17-74349660-GC-TA | c.124_125delinsTA | p.A42Y | Missense | 1/10 | - | 1 |
17-74349662-C-T | c.123G>A | p.S41= | Synonymous | 1/10 | - | 1 |
17-74349665-G-C | c.120C>G | p.F40L | Missense | 1/10 | - | 1 |
17-74349668-G-A | c.117C>T | p.V39= | Synonymous | 1/10 | - | 1 |
17-74349668-G-C | c.117C>G | p.V39= | Synonymous | 1/10 | - | 1 |
17-74349668-G-T | c.117C>A | p.V39= | Synonymous | 1/10 | - | 1 |
17-74349676-A-C | c.109T>G | p.Y37D | Missense | 1/10 | - | 1 |
17-74349680-G-A | c.105C>T | p.T35= | Synonymous | 1/10 | - | 1 |
17-74349680-G-C | c.105C>G | p.T35= | Synonymous | 1/10 | - | 1 |
17-74349680-G-T | c.105C>A | p.T35= | Synonymous | 1/10 | - | 1 |
17-74349685-G-T | c.100C>A | p.R34S | Missense | 1/10 | - | 1 |
17-74349688-C-T | c.97G>A | p.A33T | Missense | 1/10 | - | 1 |
17-74349690-G-A | c.95C>T | p.A32V | Missense | 1/10 | - | 1 |
17-74349690-GC-TT | c.94_95delinsAA | p.A32N | Missense | 1/10 | - | 1 |
17-74349698-GGC-CAT | c.85_87delinsATG | p.A29M | Missense | 1/10 | - | 1 |
17-74349698-GG-CT | c.86_87delinsAG | p.A29E | Missense | 1/10 | - | 1 |
17-74349699-G-A | c.86C>T | p.A29V | Missense | 1/10 | - | 2 |
17-74349699-GC-AG | c.85_86delinsCT | p.A29L | Missense | 1/10 | - | 2 |
17-74349699-GC-AT | c.85_86delinsAT | p.A29I | Missense | 1/10 | - | 1 |
17-74349699-GC-CA | c.85_86delinsTG | p.A29C | Missense | 1/10 | - | 2 |
17-74349699-GC-TT | c.85_86delinsAA | p.A29N | Missense | 1/10 | - | 1 |
17-74349699-G-T | c.86C>A | p.A29D | Missense | 1/10 | - | 3 |
17-74349708-G-A | c.77C>T | p.P26L | Missense | 1/10 | - | 1 |
17-74349720-G-C | c.65C>G | p.A22G | Missense | 1/10 | - | 1 |
17-74349725-CGG-C | c.58_59del | p.P20Afs*42 | Frameshift | 1/10 | - | 1 |
17-74349729-A-G | c.56T>C | p.V19A | Missense | 1/10 | - | 1 |
17-74349738-GC-TA | c.46_47delinsTA | p.A16Y | Missense | 1/10 | - | 1 |
17-74349744-GA-TT | c.40_41delinsAA | p.S14N | Missense | 1/10 | - | 1 |
17-74349749-G-A | c.36C>T | p.S12= | Synonymous | 1/10 | - | 1 |
17-74349752-G-A | c.33C>T | p.P11= | Synonymous | 1/10 | - | 1 |
17-74349834-T-G | c.-50A>C | - | 5-UTRSNV | 1/10 | - | 1 |