Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
5-80716328-C-T | c.1105G>A | p.V369M | Missense | 17/17 | - | 1 |
5-80716330-C-T | c.1103G>A | p.S368N | Missense | 17/17 | - | 1 |
5-80723454-C-T | c.1080+950G>A | - | IntronicSNV | - | 16/16 | 1 |
5-80724405-C-T | c.1079G>A | p.S360N | Missense | 16/17 | - | 1 |
5-80724410-A-G | c.1074T>C | p.S358= | Synonymous | 16/17 | - | 1 |
5-80724413-C-G | c.1071G>C | p.Q357H | Missense | 16/17 | - | 2 |
5-80724437-C-G | c.1047G>C | p.G349= | Synonymous | 16/17 | - | 1 |
5-80724451-C-T | c.1033G>A | p.D345N | Missense | 16/17 | - | 1 |
5-80724461-A-C | c.1023T>G | p.T341= | Synonymous | 16/17 | - | 1 |
5-80724461-A-G | c.1023T>C | p.T341= | Synonymous | 16/17 | - | 1 |
5-80724461-A-T | c.1023T>A | p.T341= | Synonymous | 16/17 | - | 1 |
5-80724464-G-A | c.1020C>T | p.G340= | Synonymous | 16/17 | - | 1 |
5-80724464-G-T | c.1020C>A | p.G340= | Synonymous | 16/17 | - | 2 |
5-80724465-C-T | c.1019G>A | p.G340D | Missense | 16/17 | - | 2 |
5-80724479-C-T | c.1005G>A | p.L335= | Synonymous | 16/17 | - | 1 |
5-80724487-T-C | c.997A>G | p.M333V | Missense | 16/17 | - | 2 |
5-80724495-G-A | c.989C>T | p.P330L | Missense | 16/17 | - | 1 |
5-80724496-G-A | c.988C>T | p.P330S | Missense | 16/17 | - | 1 |
5-80724497-A-C | c.987T>G | p.S329= | Synonymous | 16/17 | - | 1 |
5-80724497-A-G | c.987T>C | p.S329= | Synonymous | 16/17 | - | 1 |
5-80724497-A-T | c.987T>A | p.S329= | Synonymous | 16/17 | - | 1 |
5-80733249-C-A | c.981G>T | p.K327N | Missense | 15/17 | - | 2 |
5-80733249-C-G | c.981G>C | p.K327N | Missense | 15/17 | - | 1 |
5-80733253-GA-CG | c.976_977delinsCG | p.S326R | Missense | 15/17 | - | 1 |
5-80733257-T-C | c.973A>G | p.I325V | Missense | 15/17 | - | 3 |
5-80733257-T-G | c.973A>C | p.I325L | Missense | 15/17 | - | 1 |
5-80733264-C-G | c.966G>C | p.M322I | Missense | 15/17 | - | 1 |
5-80735053-GA-G | c.952+1323del | - | IntronicDeletion | - | 14/16 | 1 |
5-80736391-A-T | c.938T>A | p.M313K | Missense | 14/17 | - | 1 |
5-80736393-G-T | c.936C>A | p.H312Q | Missense | 14/17 | - | 1 |
5-80736394-T-C | c.935A>G | p.H312R | Missense | 14/17 | - | 1 |
5-80736423-C-G | c.906G>C | p.M302I | Missense | 14/17 | - | 1 |
5-80736428-G-A | c.901C>T | p.P301S | Missense | 14/17 | - | 2 |
5-80736431-C-T | c.898G>A | p.G300S | Missense | 14/17 | - | 1 |
5-80736439-C-T | c.890G>A | p.G297E | Missense | 14/17 | - | 1 |
5-80736440-C-G | c.889G>C | p.G297R | Missense | 14/17 | - | 1 |
5-80736440-C-T | c.889G>A | p.G297R | Missense | 14/17 | - | 1 |
5-80736444-A-C | c.885T>G | p.G295= | Synonymous | 14/17 | - | 3 |
5-80736444-A-G | c.885T>C | p.G295= | Synonymous | 14/17 | - | 8 |
5-80736444-A-T | c.885T>A | p.G295= | Synonymous | 14/17 | - | 3 |
5-80736447-C-T | c.882G>A | p.M294I | Missense | 14/17 | - | 1 |
5-80736449-T-C | c.880A>G | p.M294V | Missense | 14/17 | - | 4 |
5-80736452-G-A | c.877C>T | p.P293S | Missense | 14/17 | - | 2 |
5-80736452-G-T | c.877C>A | p.P293T | Missense | 14/17 | - | 2 |
5-80738479-C-A | c.866G>T | p.R289I | Missense | 13/17 | - | 1 |
5-80738484-A-G | c.861T>C | p.P287= | Synonymous | 13/17 | - | 2 |
5-80738485-G-T | c.860C>A | p.P287H | Missense | 13/17 | - | 1 |
5-80738492-G-T | c.853C>A | p.P285T | Missense | 13/17 | - | 2 |
5-80738493-A-C | c.852T>G | p.P284= | Synonymous | 13/17 | - | 2 |
5-80738493-A-G | c.852T>C | p.P284= | Synonymous | 13/17 | - | 2 |
5-80738493-A-T | c.852T>A | p.P284= | Synonymous | 13/17 | - | 2 |
5-80738494-G-A | c.851C>T | p.P284L | Missense | 13/17 | - | 2 |
5-80738501-C-T | c.844G>A | p.A282T | Missense | 13/17 | - | 1 |
5-80738508-TA-T | c.836del | p.L279* | Frameshift | 13/17 | - | 1 |
5-80738526-A-C | c.819T>G | p.G273= | Synonymous | 13/17 | - | 1 |
5-80738526-A-G | c.819T>C | p.G273= | Synonymous | 13/17 | - | 1 |
5-80738526-A-T | c.819T>A | p.G273= | Synonymous | 13/17 | - | 1 |
5-80738532-G-T | c.813C>A | p.N271K | Missense | 13/17 | - | 1 |
5-80738535-G-A | c.810C>T | p.T270= | Synonymous | 13/17 | - | 1 |
5-80738535-G-C | c.810C>G | p.T270= | Synonymous | 13/17 | - | 1 |
5-80738535-G-T | c.810C>A | p.T270= | Synonymous | 13/17 | - | 1 |
5-80738539-G-T | c.806C>A | p.S269* | Nonsense | 13/17 | - | 1 |
5-80742700-C-G | c.789G>C | p.M263I | Missense | 12/17 | - | 1 |
5-80742713-C-A | c.776G>T | p.G259V | Missense | 12/17 | - | 1 |
5-80742714-C-G | c.775G>C | p.G259R | Missense | 12/17 | - | 1 |
5-80742714-C-T | c.775G>A | p.G259R | Missense | 12/17 | - | 1 |
5-80742716-G-A | c.773C>T | p.P258L | Missense | 12/17 | - | 1 |
5-80742717-G-A | c.772C>T | p.P258S | Missense | 12/17 | - | 1 |
5-80742722-C-T | c.767G>A | p.G256E | Missense | 12/17 | - | 1 |
5-80742731-C-T | c.758G>A | p.G253E | Missense | 12/17 | - | 1 |
5-80742733-T-A | c.756A>T | p.P252= | Synonymous | 12/17 | - | 1 |
5-80744625-G-A | c.731C>T | p.S244F | Missense | 11/17 | - | 2 |
5-80756760-TA-T | c.711+113del | - | IntronicDeletion | - | 10/16 | 1 |
5-80756896-G-A | c.689C>T | p.P230L | Missense | 10/17 | - | 1 |
5-80756908-C-T | c.677G>A | p.G226D | Missense | 10/17 | - | 1 |
5-80762787-G-A | c.662+6C>T | - | IntronicSNV | - | 9/16 | 1 |
5-80762794-T-A | c.661A>T | p.M221L | Missense | 9/17 | - | 1 |
5-80762802-C-T | c.653G>A | p.G218E | Missense | 9/17 | - | 1 |
5-80762826-G-C | c.629C>G | p.A210G | Missense | 9/17 | - | 1 |
5-80762828-A-G | c.627T>C | p.N209= | Synonymous | 9/17 | - | 2 |
5-80762831-C-T | c.624G>A | p.L208= | Synonymous | 9/17 | - | 1 |
5-80762839-G-A | c.616C>T | p.P206S | Missense | 9/17 | - | 3 |
5-80767645-GT-G | c.570+1873del | - | IntronicDeletion | - | 8/16 | 1 |
5-80769519-C-A | c.570G>T | p.Q190H | Missense | 8/17 | - | 1 |
5-80769523-G-A | c.566C>T | p.P189L | Missense | 8/17 | - | 1 |
5-80769533-G-A | c.556C>T | p.P186S | Missense | 8/17 | - | 1 |
5-80769536-C-T | c.553G>A | p.V185M | Missense | 8/17 | - | 1 |
5-80769541-C-T | c.548G>A | p.G183E | Missense | 8/17 | - | 2 |
5-80769544-C-A | c.545G>T | p.R182I | Missense | 8/17 | - | 1 |
5-80769544-CT-TG | c.544_545delinsCA | p.R182Q | Missense | 8/17 | - | 1 |
5-80769546-T-A | c.543A>T | p.P181= | Synonymous | 8/17 | - | 1 |
5-80769546-T-C | c.543A>G | p.P181= | Synonymous | 8/17 | - | 1 |
5-80769546-T-G | c.543A>C | p.P181= | Synonymous | 8/17 | - | 1 |
5-80769548-G-A | c.541C>T | p.P181S | Missense | 8/17 | - | 1 |
5-80769551-G-A | c.538C>T | p.P180S | Missense | 8/17 | - | 1 |
5-80769553-G-A | c.536C>T | p.T179I | Missense | 8/17 | - | 1 |
5-80769559-C-A | c.530G>T | p.R177I | Missense | 8/17 | - | 3 |
5-80769571-C-A | c.518G>T | p.G173V | Missense | 8/17 | - | 1 |
5-80770316-T-C | c.498A>G | p.Q166= | Synonymous | 7/17 | - | 1 |
5-80770324-G-A | c.490C>T | p.R164* | Nonsense | 7/17 | - | 5 |
5-80770329-G-A | c.485C>T | p.P162L | Missense | 7/17 | - | 2 |
5-80770333-C-A | c.481G>T | p.D161Y | Missense | 7/17 | - | 1 |
5-80770353-G-A | c.461C>T | p.P154L | Missense | 7/17 | - | 1 |
5-80770354-G-C | c.460C>G | p.P154A | Missense | 7/17 | - | 1 |
5-80770354-G-T | c.460C>A | p.P154T | Missense | 7/17 | - | 1 |
5-80770363-C-T | c.451G>A | p.G151R | Missense | 7/17 | - | 1 |
5-80770364-T-C | c.450A>G | p.P150= | Synonymous | 7/17 | - | 1 |
5-80770365-G-A | c.449C>T | p.P150L | Missense | 7/17 | - | 1 |
5-80770368-A-G | c.446T>C | p.V149A | Missense | 7/17 | - | 1 |
5-80770373-T-A | c.441A>T | p.G147= | Synonymous | 7/17 | - | 1 |
5-80770374-C-A | c.440G>T | p.G147V | Missense | 7/17 | - | 1 |
5-80770374-C-T | c.440G>A | p.G147E | Missense | 7/17 | - | 1 |
5-80780546-A-T | c.432+4523T>A | - | IntronicSNV | - | 6/16 | 1 |
5-80785011-G-A | c.432+58C>T | - | IntronicSNV | - | 6/16 | 1 |
5-80785071-G-A | c.430C>T | p.Q144* | Nonsense | 6/17 | - | 7 |
5-80785074-T-C | c.427A>G | p.N143D | Missense | 6/17 | - | 2 |
5-80785076-G-T | c.425C>A | p.P142H | Missense | 6/17 | - | 3 |
5-80785077-G-A | c.424C>T | p.P142S | Missense | 6/17 | - | 1 |
5-80785080-T-C | c.421A>G | p.I141V | Missense | 6/17 | - | 1 |
5-80785084-C-T | c.417G>A | p.L139= | Synonymous | 6/17 | - | 1 |
5-80785086-A-G | c.415T>C | p.L139= | Synonymous | 6/17 | - | 2 |
5-80785088-G-A | c.413C>T | p.P138L | Missense | 6/17 | - | 1 |
5-80785088-G-C | c.413C>G | p.P138R | Missense | 6/17 | - | 1 |
5-80785090-G-T | c.411C>A | p.P137= | Synonymous | 6/17 | - | 1 |
5-80785093-C-A | c.408G>T | p.R136S | Missense | 6/17 | - | 1 |
5-80785093-C-G | c.408G>C | p.R136S | Missense | 6/17 | - | 2 |
5-80785112-C-A | c.389G>T | p.R130L | Missense | 6/17 | - | 2 |
5-80785127-G-A | c.374C>T | p.P125L | Missense | 6/17 | - | 1 |
5-80808765-A-T | c.372+682T>A | - | IntronicSNV | - | 5/16 | 1 |
5-80809449-G-A | c.370C>T | p.Q124* | Nonsense | 5/17 | - | 1 |
5-80809451-A-T | c.368T>A | p.F123Y | Missense | 5/17 | - | 1 |
5-80809459-T-A | c.360A>T | p.P120= | Synonymous | 5/17 | - | 2 |
5-80809459-T-C | c.360A>G | p.P120= | Synonymous | 5/17 | - | 1 |
5-80809459-T-G | c.360A>C | p.P120= | Synonymous | 5/17 | - | 1 |
5-80809462-T-G | c.357A>C | p.P119= | Synonymous | 5/17 | - | 1 |
5-80809482-T-C | c.337A>G | p.M113V | Missense | 5/17 | - | 1 |
5-80809491-C-T | c.328G>A | p.G110R | Missense | 5/17 | - | 1 |
5-80809493-G-A | c.326C>T | p.P109L | Missense | 5/17 | - | 3 |
5-80809501-G-A | c.318C>T | p.N106= | Synonymous | 5/17 | - | 1 |
5-80809506-C-A | c.313G>T | p.G105* | Nonsense | 5/17 | - | 1 |
5-80809509-G-T | c.310C>A | p.L104I | Missense | 5/17 | - | 1 |
5-80809515-G-A | c.304C>T | p.P102S | Missense | 5/17 | - | 1 |
5-80809517-C-G | c.302G>C | p.S101T | Missense | 5/17 | - | 1 |
5-80809517-C-T | c.302G>A | p.S101N | Missense | 5/17 | - | 1 |
5-80809521-G-A | c.298C>T | p.P100S | Missense | 5/17 | - | 1 |
5-80809524-C-T | c.295G>A | p.A99T | Missense | 5/17 | - | 1 |
5-80809533-C-T | c.286G>A | p.A96T | Missense | 5/17 | - | 1 |
5-80855232-G-A | c.283-45696C>T | - | IntronicSNV | - | 4/16 | 1 |
5-80860870-G-A | c.282+50422C>T | - | IntronicSNV | - | 4/16 | 1 |
5-80894660-C-T | c.282+16632G>A | - | IntronicSNV | - | 4/16 | 1 |
5-80904443-A-T | c.282+6849T>A | - | IntronicSNV | - | 4/16 | 1 |
5-80909112-G-A | c.282+2180C>T | - | IntronicSNV | - | 4/16 | 1 |
5-80911233-G-C | c.282+59C>G | - | IntronicSNV | - | 4/16 | 1 |
5-80911291-C-T | c.282+1G>A | - | IntronicSNV | - | 4/16 | 1 |
5-80911292-G-A | c.282C>T | p.Y94= | Synonymous | 4/17 | - | 4 |
5-80911297-C-A | c.277G>T | p.D93Y | Missense | 4/17 | - | 1 |
5-80911305-G-T | c.269C>A | p.A90D | Missense | 4/17 | - | 1 |
5-80911317-C-A | c.257G>T | p.S86I | Missense | 4/17 | - | 3 |
5-80911320-G-C | c.254C>G | p.S85* | Nonsense | 4/17 | - | 1 |
5-80911320-G-T | c.254C>A | p.S85* | Nonsense | 4/17 | - | 1 |
5-80911325-T-C | c.249A>G | p.E83= | Synonymous | 4/17 | - | 2 |
5-80911333-T-C | c.241A>G | p.T81A | Missense | 4/17 | - | 1 |
5-80911339-G-A | c.235C>T | p.R79C | Missense | 4/17 | - | 1 |
5-80911344-T-C | c.230A>G | p.E77G | Missense | 4/17 | - | 1 |
5-80911345-C-T | c.229G>A | p.E77K | Missense | 4/17 | - | 1 |
5-80911353-G-A | c.221C>T | p.A74V | Missense | 4/17 | - | 1 |
5-80911354-C-A | c.220G>T | p.A74S | Missense | 4/17 | - | 1 |
5-80911359-TA-GC | c.214_215delinsGC | p.Y72A | Missense | 4/17 | - | 1 |
5-80911360-A-C | c.214T>G | p.Y72D | Missense | 4/17 | - | 1 |
5-80911363-G-A | c.211C>T | p.L71F | Missense | 4/17 | - | 1 |
5-80911366-C-A | c.208G>T | p.D70Y | Missense | 4/17 | - | 1 |
5-80911371-AA-TC | c.202_203delinsGA | p.F68D | Missense | 4/17 | - | 1 |
5-80911371-A-C | c.203T>G | p.F68C | Missense | 4/17 | - | 1 |
5-80911373-T-A | c.201A>T | p.V67= | Synonymous | 4/17 | - | 1 |
5-80911373-T-C | c.201A>G | p.V67= | Synonymous | 4/17 | - | 1 |
5-80911373-T-G | c.201A>C | p.V67= | Synonymous | 4/17 | - | 1 |
5-80927298-A-G | c.197+5078T>C | - | IntronicSNV | - | 3/16 | 1 |
5-80932376-C-T | c.197G>A | p.C66Y | Missense | 3/17 | - | 3 |
5-80932405-T-A | c.168A>T | p.E56D | Missense | 3/17 | - | 1 |
5-80932405-T-G | c.168A>C | p.E56D | Missense | 3/17 | - | 1 |
5-80932406-T-G | c.167A>C | p.E56A | Missense | 3/17 | - | 1 |
5-80932407-C-A | c.166G>T | p.E56* | Nonsense | 3/17 | - | 1 |
5-80932408-C-A | c.165G>T | p.G55= | Synonymous | 3/17 | - | 1 |
5-80932408-C-G | c.165G>C | p.G55= | Synonymous | 3/17 | - | 1 |
5-80932408-C-T | c.165G>A | p.G55= | Synonymous | 3/17 | - | 1 |
5-80932406-T-TC | c.166dup | p.E56Gfs*25 | Frameshift | 3/17 | - | 1 |
5-80932411-C-A | c.162G>T | p.L54F | Missense | 3/17 | - | 1 |
5-80932418-A-T | c.155T>A | p.I52N | Missense | 3/17 | - | 1 |
5-80932420-TG-T | c.153del | p.N51Kfs*54 | Frameshift | 3/17 | - | 2 |
5-80932421-T-G | c.152A>C | p.N51T | Missense | 3/17 | - | 1 |
5-80932422-T-A | c.151A>T | p.N51Y | Missense | 3/17 | - | 1 |
5-80932422-T-TA | c.150_151insT | p.N51* | Nonsense | 3/17 | - | 1 |
5-80932423-T-G | c.150A>C | p.K50N | Missense | 3/17 | - | 1 |
5-80932420-GT-G | c.152del | p.N51Tfs*54 | Frameshift | 3/17 | - | 8 |
5-80932433-C-A | c.140G>T | p.R47I | Missense | 3/17 | - | 1 |
5-80946096-A-C | c.125T>G | p.F42C | Missense | 2/17 | - | 1 |
5-80946105-G-T | c.116C>A | p.A39D | Missense | 2/17 | - | 1 |
5-80946108-G-T | c.113C>A | p.S38* | Nonsense | 2/17 | - | 1 |
5-80946121-C-G | c.100G>C | p.G34R | Missense | 2/17 | - | 1 |
5-80946121-C-T | c.100G>A | p.G34R | Missense | 2/17 | - | 1 |
5-80946127-G-A | c.94C>T | p.H32Y | Missense | 2/17 | - | 1 |
5-80946133-G-C | c.88C>G | p.L30V | Missense | 2/17 | - | 1 |
5-80946139-C-T | c.82G>A | p.E28K | Missense | 2/17 | - | 2 |
5-80946140-A-C | c.81T>G | p.Y27* | Nonsense | 2/17 | - | 2 |
5-80946140-A-T | c.81T>A | p.Y27* | Nonsense | 2/17 | - | 1 |
5-80946141-T-C | c.80A>G | p.Y27C | Missense | 2/17 | - | 1 |
5-80946144-A-G | c.77T>C | p.V26A | Missense | 2/17 | - | 1 |
5-80946145-C-T | c.76G>A | p.V26I | Missense | 2/17 | - | 5 |
5-80946149-G-C | c.72C>G | p.L24= | Synonymous | 2/17 | - | 1 |
5-80946152-T-A | c.69A>T | p.A23= | Synonymous | 2/17 | - | 1 |
5-80946152-T-C | c.69A>G | p.A23= | Synonymous | 2/17 | - | 1 |
5-80946152-T-G | c.69A>C | p.A23= | Synonymous | 2/17 | - | 1 |
5-80946158-C-G | c.63G>C | p.K21N | Missense | 2/17 | - | 1 |
5-81000888-GT-G | c.62+45911del | - | IntronicDeletion | - | 1/16 | 1 |
5-81005609-A-T | c.62+41191T>A | - | IntronicSNV | - | 1/16 | 1 |
5-81005945-G-C | c.62+40855C>G | - | IntronicSNV | - | 1/16 | 1 |
5-81007512-TA-T | c.62+39287del | - | IntronicDeletion | - | 1/16 | 1 |
5-81010749-AT-A | c.62+36050del | - | IntronicDeletion | - | 1/16 | 1 |
5-81024765-C-T | c.62+22035G>A | - | IntronicSNV | - | 1/16 | 1 |
5-81027134-TA-T | c.62+19665del | - | IntronicDeletion | - | 1/16 | 1 |
5-81044862-T-C | c.62+1938A>G | - | IntronicSNV | - | 1/16 | 1 |
5-81045495-A-G | c.62+1305T>C | - | IntronicSNV | - | 1/16 | 1 |
5-81046058-G-C | c.62+742C>G | - | IntronicSNV | - | 1/16 | 1 |
5-81046064-G-C | c.62+736C>G | - | IntronicSNV | - | 1/16 | 1 |
5-81046070-G-C | c.62+730C>G | - | IntronicSNV | - | 1/16 | 1 |
5-81046803-T-C | c.59A>G | p.E20G | Missense | 1/17 | - | 3 |
5-81046806-C-T | c.56G>A | p.R19Q | Missense | 1/17 | - | 1 |
5-81046808-G-A | c.54C>T | p.A18= | Synonymous | 1/17 | - | 2 |
5-81046808-G-C | c.54C>G | p.A18= | Synonymous | 1/17 | - | 1 |
5-81046808-G-T | c.54C>A | p.A18= | Synonymous | 1/17 | - | 1 |
5-81046813-G-A | c.49C>T | p.Q17* | Nonsense | 1/17 | - | 1 |
5-81046815-C-T | c.47G>A | p.S16N | Missense | 1/17 | - | 1 |
5-81046816-T-A | c.46A>T | p.S16C | Missense | 1/17 | - | 1 |
5-81046824-GG-TT | c.37_38delinsAA | p.P13K | Missense | 1/17 | - | 1 |
5-81046826-GAC-CAT | c.34_36delinsATG | p.V12M | Missense | 1/17 | - | 1 |
5-81046829-G-A | c.33C>T | p.A11= | Synonymous | 1/17 | - | 3 |
5-81046829-G-C | c.33C>G | p.A11= | Synonymous | 1/17 | - | 3 |
5-81046829-GG-CT | c.32_33delinsAG | p.A11E | Missense | 1/17 | - | 1 |
5-81046829-G-T | c.33C>A | p.A11= | Synonymous | 1/17 | - | 2 |
5-81046842-C-T | c.20G>A | p.S7N | Missense | 1/17 | - | 1 |
5-81046845-T-C | c.17A>G | p.K6R | Missense | 1/17 | - | 1 |
5-81046848-C-T | c.14G>A | p.G5D | Missense | 1/17 | - | 1 |
5-81046855-C-T | c.7G>A | p.G3S | Missense | 1/17 | - | 1 |