Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
7-82385575-C-A | c.*2316G>T | - | 3-UTRSNV | 25/25 | - | 3 |
7-82385575-C-T | c.*2316G>A | - | 3-UTRSNV | 25/25 | - | 3 |
7-82385732-G-T | c.*2159C>A | - | 3-UTRSNV | 25/25 | - | 2 |
7-82386082-G-A | c.*1809C>T | - | 3-UTRSNV | 25/25 | - | 2 |
7-82386125-G-A | c.*1766C>T | - | 3-UTRSNV | 25/25 | - | 2 |
7-82386297-T-C | c.*1594A>G | - | 3-UTRSNV | 25/25 | - | 1 |
7-82386473-A-G | c.*1418T>C | - | 3-UTRSNV | 25/25 | - | 2 |
7-82387493-C-T | c.*398G>A | - | 3-UTRSNV | 25/25 | - | 2 |
7-82387871-C-T | c.*20G>A | - | 3-UTRSNV | 25/25 | - | 2 |
7-82387892-C-T | c.15428G>A | p.*5143= | Synonymous | 25/25 | - | 2 |
7-82387895-T-C | c.15425A>G | p.H5142R | Missense | 25/25 | - | 1 |
7-82387897-C-A | c.15423G>T | p.T5141= | Synonymous | 25/25 | - | 1 |
7-82387897-C-G | c.15423G>C | p.T5141= | Synonymous | 25/25 | - | 1 |
7-82387897-C-T | c.15423G>A | p.T5141= | Synonymous | 25/25 | - | 2 |
7-82387898-G-A | c.15422C>T | p.T5141M | Missense | 25/25 | - | 5 |
7-82387899-T-C | c.15421A>G | p.T5141A | Missense | 25/25 | - | 1 |
7-82387900-T-C | c.15420A>G | p.Q5140= | Synonymous | 25/25 | - | 1 |
7-82387901-T-C | c.15419A>G | p.Q5140R | Missense | 25/25 | - | 2 |
7-82387907-G-T | c.15413C>A | p.P5138H | Missense | 25/25 | - | 1 |
7-82387908-G-A | c.15412C>T | p.P5138S | Missense | 25/25 | - | 2 |
7-82387910-C-A | c.15410G>T | p.S5137I | Missense | 25/25 | - | 4 |
7-82387911-T-C | c.15409A>G | p.S5137G | Missense | 25/25 | - | 1 |
7-82387913-A-T | c.15407T>A | p.V5136D | Missense | 25/25 | - | 1 |
7-82387914-C-A | c.15406G>T | p.V5136F | Missense | 25/25 | - | 1 |
7-82387919-A-G | c.15401T>C | p.L5134P | Missense | 25/25 | - | 2 |
7-82387920-G-A | c.15400C>T | p.L5134F | Missense | 25/25 | - | 1 |
7-82387920-G-C | c.15400C>G | p.L5134V | Missense | 25/25 | - | 1 |
7-82387920-G-T | c.15400C>A | p.L5134I | Missense | 25/25 | - | 1 |
7-82387921-T-C | c.15399A>G | p.K5133= | Synonymous | 25/25 | - | 1 |
7-82387923-T-A | c.15397A>T | p.K5133* | Nonsense | 25/25 | - | 4 |
7-82387925-T-G | c.15395A>C | p.H5132P | Missense | 25/25 | - | 4 |
7-82387927-C-A | c.15393G>T | p.W5131C | Missense | 25/25 | - | 4 |
7-82387927-C-G | c.15393G>C | p.W5131C | Missense | 25/25 | - | 6 |
7-82387927-C-T | c.15393G>A | p.W5131* | Nonsense | 25/25 | - | 1 |
7-82387928-C-A | c.15392G>T | p.W5131L | Missense | 25/25 | - | 4 |
7-82387928-C-T | c.15392G>A | p.W5131* | Nonsense | 25/25 | - | 1 |
7-82387933-G-A | c.15387C>T | p.V5129= | Synonymous | 25/25 | - | 2 |
7-82387933-TGAC-T | c.15385_15387del | p.V5129del | InFrameDeletion | 25/25 | - | 1 |
7-82387946-C-G | c.15374G>C | p.R5125T | Missense | 25/25 | - | 2 |
7-82387947-T-A | c.15373A>T | p.R5125* | Nonsense | 25/25 | - | 1 |
7-82387949-A-C | c.15371T>G | p.L5124R | Missense | 25/25 | - | 5 |
7-82387953-C-A | c.15367G>T | p.D5123Y | Missense | 25/25 | - | 2 |
7-82387953-C-T | c.15367G>A | p.D5123N | Missense | 25/25 | - | 2 |
7-82387954-C-A | c.15366G>T | p.V5122= | Synonymous | 25/25 | - | 1 |
7-82387954-C-G | c.15366G>C | p.V5122= | Synonymous | 25/25 | - | 1 |
7-82387954-C-T | c.15366G>A | p.V5122= | Synonymous | 25/25 | - | 1 |
7-82387960-G-A | c.15360C>T | p.D5120= | Synonymous | 25/25 | - | 4 |
7-82387962-C-A | c.15358G>T | p.D5120Y | Missense | 25/25 | - | 1 |
7-82387962-C-T | c.15358G>A | p.D5120N | Missense | 25/25 | - | 1 |
7-82387966-C-T | c.15354G>A | p.W5118* | Nonsense | 25/25 | - | 1 |
7-82387967-C-T | c.15353G>A | p.W5118* | Nonsense | 25/25 | - | 1 |
7-82387970-A-T | c.15350T>A | p.I5117N | Missense | 25/25 | - | 2 |
7-82387975-G-T | c.15345C>A | p.A5115= | Synonymous | 25/25 | - | 2 |
7-82387976-G-A | c.15344C>T | p.A5115V | Missense | 25/25 | - | 1 |
7-82387977-C-A | c.15343G>T | p.A5115S | Missense | 25/25 | - | 3 |
7-82387980-C-T | c.15340G>A | p.E5114K | Missense | 25/25 | - | 3 |
7-82387983-C-A | c.15337G>T | p.G5113C | Missense | 25/25 | - | 2 |
7-82387985-A-T | c.15335T>A | p.I5112N | Missense | 25/25 | - | 1 |
7-82387988-A-C | c.15332T>G | p.L5111W | Missense | 25/25 | - | 1 |
7-82387992-T-G | c.15328A>C | p.T5110P | Missense | 25/25 | - | 3 |
7-82387993-C-A | c.15327G>T | p.K5109N | Missense | 25/25 | - | 2 |
7-82387993-C-G | c.15327G>C | p.K5109N | Missense | 25/25 | - | 1 |
7-82387994-T-C | c.15326A>G | p.K5109R | Missense | 25/25 | - | 1 |
7-82387996-T-A | c.15324A>T | p.K5108N | Missense | 25/25 | - | 4 |
7-82387996-T-C | c.15324A>G | p.K5108= | Synonymous | 25/25 | - | 1 |
7-82387999-C-A | c.15321G>T | p.M5107I | Missense | 25/25 | - | 1 |
7-82387999-C-G | c.15321G>C | p.M5107I | Missense | 25/25 | - | 1 |
7-82387999-C-T | c.15321G>A | p.M5107I | Missense | 25/25 | - | 4 |
7-82388001-T-A | c.15319A>T | p.M5107L | Missense | 25/25 | - | 4 |
7-82388001-T-G | c.15319A>C | p.M5107L | Missense | 25/25 | - | 3 |
7-82388002-A-G | c.15318T>C | p.F5106= | Synonymous | 25/25 | - | 1 |
7-82388005-C-A | c.15315G>T | p.K5105N | Missense | 25/25 | - | 1 |
7-82388007-T-A | c.15313A>T | p.K5105* | Nonsense | 25/25 | - | 1 |
7-82388007-T-C | c.15313A>G | p.K5105E | Missense | 25/25 | - | 1 |
7-82388008-C-T | c.15312G>A | p.G5104= | Synonymous | 25/25 | - | 6 |
7-82388009-C-T | c.15311G>A | p.G5104E | Missense | 25/25 | - | 3 |
7-82388013-C-A | c.15307G>T | p.G5103* | Nonsense | 25/25 | - | 2 |
7-82388016-T-C | c.15304A>G | p.N5102D | Missense | 25/25 | - | 1 |
7-82388018-G-A | c.15302C>T | p.S5101F | Missense | 25/25 | - | 3 |
7-82388019-A-C | c.15301T>G | p.S5101A | Missense | 25/25 | - | 1 |
7-82388020-G-A | c.15300C>T | p.F5100= | Synonymous | 25/25 | - | 3 |
7-82388020-G-T | c.15300C>A | p.F5100L | Missense | 25/25 | - | 1 |
7-82388025-G-C | c.15295C>G | p.L5099V | Missense | 25/25 | - | 1 |
7-82388026-T-C | c.15294A>G | p.L5098= | Synonymous | 25/25 | - | 1 |
7-82388027-A-G | c.15293T>C | p.L5098S | Missense | 25/25 | - | 1 |
7-82388027-A-T | c.15293T>A | p.L5098* | Nonsense | 25/25 | - | 1 |
7-82388028-A-C | c.15292T>G | p.L5098V | Missense | 25/25 | - | 4 |
7-82388714-T-G | c.15289-683A>C | - | IntronicSNV | - | 24/24 | 10 |
7-82389948-G-T | c.15288+7C>A | - | IntronicSNV | - | 24/24 | 1 |
7-82389953-A-G | c.15288+2T>C | - | IntronicSNV | - | 24/24 | 1 |
7-82389960-G-A | c.15283C>T | p.L5095F | Missense | 24/25 | - | 2 |
7-82389961-A-C | c.15282T>G | p.S5094= | Synonymous | 24/25 | - | 1 |
7-82389961-A-G | c.15282T>C | p.S5094= | Synonymous | 24/25 | - | 3 |
7-82389961-A-T | c.15282T>A | p.S5094= | Synonymous | 24/25 | - | 1 |
7-82389965-T-C | c.15278A>G | p.H5093R | Missense | 24/25 | - | 1 |
7-82389966-G-A | c.15277C>T | p.H5093Y | Missense | 24/25 | - | 3 |
7-82389967-T-C | c.15276A>G | p.G5092= | Synonymous | 24/25 | - | 2 |
7-82389969-C-T | c.15274G>A | p.G5092R | Missense | 24/25 | - | 2 |
7-82389972-C-A | c.15271G>T | p.A5091S | Missense | 24/25 | - | 2 |
7-82389974-G-T | c.15269C>A | p.P5090H | Missense | 24/25 | - | 1 |
7-82389975-G-A | c.15268C>T | p.P5090S | Missense | 24/25 | - | 1 |
7-82389975-G-T | c.15268C>A | p.P5090T | Missense | 24/25 | - | 1 |
7-82389976-A-T | c.15267T>A | p.S5089R | Missense | 24/25 | - | 1 |
7-82389977-C-A | c.15266G>T | p.S5089I | Missense | 24/25 | - | 1 |
7-82389978-T-A | c.15265A>T | p.S5089C | Missense | 24/25 | - | 1 |
7-82389978-T-G | c.15265A>C | p.S5089R | Missense | 24/25 | - | 2 |
7-82389980-A-G | c.15263T>C | p.L5088P | Missense | 24/25 | - | 1 |
7-82389981-G-A | c.15262C>T | p.L5088= | Synonymous | 24/25 | - | 2 |
7-82389984-T-C | c.15259A>G | p.S5087G | Missense | 24/25 | - | 2 |
7-82389989-C-A | c.15254G>T | p.R5085L | Missense | 24/25 | - | 2 |
7-82389989-C-T | c.15254G>A | p.R5085Q | Missense | 24/25 | - | 3 |
7-82389990-G-A | c.15253C>T | p.R5085* | Nonsense | 24/25 | - | 12 |
7-82389995-G-T | c.15248C>A | p.T5083N | Missense | 24/25 | - | 1 |
7-82389999-C-T | c.15244G>A | p.E5082K | Missense | 24/25 | - | 1 |
7-82390000-A-G | c.15243T>C | p.N5081= | Synonymous | 24/25 | - | 1 |
7-82390006-C-A | c.15237G>T | p.S5079= | Synonymous | 24/25 | - | 2 |
7-82390006-C-G | c.15237G>C | p.S5079= | Synonymous | 24/25 | - | 2 |
7-82390006-C-T | c.15237G>A | p.S5079= | Synonymous | 24/25 | - | 3 |
7-82390007-G-A | c.15236C>T | p.S5079L | Missense | 24/25 | - | 7 |
7-82390007-G-T | c.15236C>A | p.S5079* | Nonsense | 24/25 | - | 3 |
7-82390013-T-G | c.15230A>C | p.E5077A | Missense | 24/25 | - | 1 |
7-82390014-C-T | c.15229G>A | p.E5077K | Missense | 24/25 | - | 3 |
7-82390016-C-T | c.15227G>A | p.R5076Q | Missense | 24/25 | - | 6 |
7-82390017-G-A | c.15226C>T | p.R5076* | Nonsense | 24/25 | - | 4 |
7-82390020-C-G | c.15223G>C | p.D5075H | Missense | 24/25 | - | 2 |
7-82390020-C-T | c.15223G>A | p.D5075N | Missense | 24/25 | - | 3 |
7-82390022-T-C | c.15221A>G | p.H5074R | Missense | 24/25 | - | 1 |
7-82390025-C-A | c.15218G>T | p.R5073I | Missense | 24/25 | - | 4 |
7-82390031-A-C | c.15212T>G | p.V5071G | Missense | 24/25 | - | 1 |
7-82390032-C-A | c.15211G>T | p.V5071L | Missense | 24/25 | - | 4 |
7-82390032-C-G | c.15211G>C | p.V5071L | Missense | 24/25 | - | 3 |
7-82390035-T-C | c.15208A>G | p.R5070G | Missense | 24/25 | - | 1 |
7-82390037-G-A | c.15206C>T | p.T5069I | Missense | 24/25 | - | 2 |
7-82390040-T-A | c.15203A>T | p.K5068I | Missense | 24/25 | - | 1 |
7-82390042-T-A | c.15201A>T | p.K5067N | Missense | 24/25 | - | 2 |
7-82390042-T-G | c.15201A>C | p.K5067N | Missense | 24/25 | - | 1 |
7-82390043-T-C | c.15200A>G | p.K5067R | Missense | 24/25 | - | 1 |
7-82390037-G-GT | c.15205dup | p.T5069Nfs*7 | Frameshift | 24/25 | - | 1 |
7-82390037-GT-G | c.15205del | p.T5069Qfs*20 | Frameshift | 24/25 | - | 2 |
7-82390045-C-T | c.15198G>A | p.K5066= | Synonymous | 24/25 | - | 4 |
7-82390049-A-T | c.15194T>A | p.I5065N | Missense | 24/25 | - | 1 |
7-82390051-C-T | c.15192G>A | p.V5064= | Synonymous | 24/25 | - | 1 |
7-82390053-C-CT | c.15189_15190insA | p.V5064Sfs*12 | Frameshift | 24/25 | - | 1 |
7-82390053-C-T | c.15190G>A | p.V5064M | Missense | 24/25 | - | 2 |
7-82390052-A-AC | c.15190dup | p.V5064Gfs*12 | Frameshift | 24/25 | - | 2 |
7-82390054-C-T | c.15189G>A | p.K5063= | Synonymous | 24/25 | - | 1 |
7-82390056-T-TA | c.15186_15187insT | p.K5063* | Nonsense | 24/25 | - | 1 |
7-82390054-C-CT | c.15188dup | p.V5064Gfs*12 | Frameshift | 24/25 | - | 2 |
7-82390054-CT-C | c.15188del | p.K5063Rfs*2 | Frameshift | 24/25 | - | 5 |
7-82390062-G-A | c.15181C>T | p.Q5061* | Nonsense | 24/25 | - | 3 |
7-82390062-G-T | c.15181C>A | p.Q5061K | Missense | 24/25 | - | 2 |
7-82390067-G-A | c.15176C>T | p.S5059F | Missense | 24/25 | - | 1 |
7-82390067-G-T | c.15176C>A | p.S5059Y | Missense | 24/25 | - | 3 |
7-82390075-C-A | c.15168G>T | p.M5056I | Missense | 24/25 | - | 1 |
7-82390075-C-T | c.15168G>A | p.M5056I | Missense | 24/25 | - | 4 |
7-82390076-A-G | c.15167T>C | p.M5056T | Missense | 24/25 | - | 1 |
7-82390077-T-A | c.15166A>T | p.M5056L | Missense | 24/25 | - | 1 |
7-82390084-T-C | c.15159A>G | p.I5053M | Missense | 24/25 | - | 1 |
7-82390090-C-A | c.15153G>T | p.V5051= | Synonymous | 24/25 | - | 1 |
7-82390090-C-G | c.15153G>C | p.V5051= | Synonymous | 24/25 | - | 3 |
7-82390090-C-T | c.15153G>A | p.V5051= | Synonymous | 24/25 | - | 2 |
7-82390092-C-T | c.15151G>A | p.V5051M | Missense | 24/25 | - | 2 |
7-82390098-A-C | c.15145T>G | p.L5049V | Missense | 24/25 | - | 1 |
7-82390098-A-T | c.15145T>A | p.L5049I | Missense | 24/25 | - | 3 |
7-82390677-G-T | c.15140C>A | p.P5047Q | Missense | 23/25 | - | 2 |
7-82390684-G-A | c.15133C>T | p.H5045Y | Missense | 23/25 | - | 6 |
7-82390687-C-T | c.15130G>A | p.D5044N | Missense | 23/25 | - | 2 |
7-82390690-G-A | c.15127C>T | p.P5043S | Missense | 23/25 | - | 4 |
7-82390692-G-A | c.15125C>T | p.S5042F | Missense | 23/25 | - | 5 |
7-82390699-A-C | c.15118T>G | p.F5040V | Missense | 23/25 | - | 2 |
7-82390701-T-A | c.15116A>T | p.K5039I | Missense | 23/25 | - | 1 |
7-82390703-G-C | c.15114C>G | p.Y5038* | Nonsense | 23/25 | - | 1 |
7-82390703-G-T | c.15114C>A | p.Y5038* | Nonsense | 23/25 | - | 1 |
7-82390704-T-C | c.15113A>G | p.Y5038C | Missense | 23/25 | - | 1 |
7-82390707-G-T | c.15110C>A | p.T5037K | Missense | 23/25 | - | 1 |
7-82390709-A-G | c.15108T>C | p.I5036= | Synonymous | 23/25 | - | 1 |
7-82390710-A-G | c.15107T>C | p.I5036T | Missense | 23/25 | - | 1 |
7-82390716-C-T | c.15101G>A | p.R5034K | Missense | 23/25 | - | 11 |
7-82390717-T-A | c.15100A>T | p.R5034* | Nonsense | 23/25 | - | 3 |
7-82390725-A-G | c.15092T>C | p.L5031P | Missense | 23/25 | - | 2 |
7-82390726-G-T | c.15091C>A | p.L5031I | Missense | 23/25 | - | 3 |
7-82390728-A-G | c.15089T>C | p.I5030T | Missense | 23/25 | - | 1 |
7-82390732-C-T | c.15085G>A | p.E5029K | Missense | 23/25 | - | 7 |
7-82390736-T-A | c.15081A>T | p.I5027= | Synonymous | 23/25 | - | 1 |
7-82390738-T-A | c.15079A>T | p.I5027L | Missense | 23/25 | - | 1 |
7-82390738-T-C | c.15079A>G | p.I5027V | Missense | 23/25 | - | 1 |
7-82390738-T-G | c.15079A>C | p.I5027L | Missense | 23/25 | - | 1 |
7-82390744-G-T | c.15073C>A | p.Q5025K | Missense | 23/25 | - | 2 |
7-82390749-C-A | c.15068G>T | p.G5023V | Missense | 23/25 | - | 2 |
7-82390750-C-A | c.15067G>T | p.G5023C | Missense | 23/25 | - | 3 |
7-82390752-T-C | c.15065A>G | p.D5022G | Missense | 23/25 | - | 1 |
7-82390753-C-A | c.15064G>T | p.D5022Y | Missense | 23/25 | - | 1 |
7-82390753-C-T | c.15064G>A | p.D5022N | Missense | 23/25 | - | 1 |
7-82390760-C-A | c.15057G>T | p.M5019I | Missense | 23/25 | - | 3 |
7-82390760-C-G | c.15057G>C | p.M5019I | Missense | 23/25 | - | 2 |
7-82390760-C-T | c.15057G>A | p.M5019I | Missense | 23/25 | - | 2 |
7-82390764-T-C | c.15053A>G | p.E5018G | Missense | 23/25 | - | 2 |
7-82390765-C-T | c.15052G>A | p.E5018K | Missense | 23/25 | - | 6 |
7-82390766-C-A | c.15051G>T | p.K5017N | Missense | 23/25 | - | 1 |
7-82390771-T-C | c.15046A>G | p.K5016E | Missense | 23/25 | - | 1 |
7-82390778-A-C | c.15039T>G | p.I5013M | Missense | 23/25 | - | 2 |
7-82390784-G-T | c.15033C>A | p.I5011= | Synonymous | 23/25 | - | 2 |
7-82390789-C-A | c.15028G>T | p.E5010* | Nonsense | 23/25 | - | 1 |
7-82390793-C-T | c.15024G>A | p.M5008I | Missense | 23/25 | - | 2 |
7-82390797-A-C | c.15020T>G | p.V5007G | Missense | 23/25 | - | 1 |
7-82390799-C-T | c.15018G>A | p.Q5006= | Synonymous | 23/25 | - | 1 |
7-82390800-T-C | c.15017A>G | p.Q5006R | Missense | 23/25 | - | 1 |
7-82390803-G-C | c.15014C>G | p.T5005S | Missense | 23/25 | - | 3 |
7-82390804-T-A | c.15013A>T | p.T5005S | Missense | 23/25 | - | 5 |
7-82390804-T-C | c.15013A>G | p.T5005A | Missense | 23/25 | - | 1 |
7-82395241-G-T | c.15008-4432C>A | - | IntronicSNV | - | 22/24 | 1 |
7-82395731-G-A | c.15008-4922C>T | - | IntronicSNV | - | 22/24 | 1 |
7-82402373-C-T | c.15008-11564G>A | - | IntronicSNV | - | 22/24 | 1 |
7-82404405-T-A | c.15008-13596A>T | - | IntronicSNV | - | 22/24 | 1 |
7-82404405-T-C | c.15008-13596A>G | - | IntronicSNV | - | 22/24 | 1 |
7-82406144-C-A | c.15008-15335G>T | - | IntronicSNV | - | 22/24 | 1 |
7-82408950-T-C | c.15008-18141A>G | - | IntronicSNV | - | 22/24 | 1 |
7-82410969-T-C | c.15007+19865A>G | - | IntronicSNV | - | 22/24 | 1 |
7-82413699-T-C | c.15007+17135A>G | - | IntronicSNV | - | 22/24 | 1 |
7-82413699-T-G | c.15007+17135A>C | - | IntronicSNV | - | 22/24 | 1 |
7-82417332-C-T | c.15007+13502G>A | - | IntronicSNV | - | 22/24 | 1 |
7-82421047-G-C | c.15007+9787C>G | - | IntronicSNV | - | 22/24 | 1 |
7-82422322-CT-C | c.15007+8511del | - | IntronicDeletion | - | 22/24 | 1 |
7-82422937-G-A | c.15007+7897C>T | - | IntronicSNV | - | 22/24 | 1 |
7-82423938-G-A | c.15007+6896C>T | - | IntronicSNV | - | 22/24 | 1 |
7-82427673-TA-T | c.15007+3160del | - | IntronicDeletion | - | 22/24 | 1 |
7-82428871-A-G | c.15007+1963T>C | - | IntronicSNV | - | 22/24 | 1 |
7-82428871-A-T | c.15007+1963T>A | - | IntronicSNV | - | 22/24 | 1 |
7-82429621-G-A | c.15007+1213C>T | - | IntronicSNV | - | 22/24 | 1 |
7-82430325-G-A | c.15007+509C>T | - | IntronicSNV | - | 22/24 | 1 |
7-82430654-A-G | c.15007+180T>C | - | IntronicSNV | - | 22/24 | 1 |
7-82430802-G-C | c.15007+32C>G | - | IntronicSNV | - | 22/24 | 1 |
7-82430833-C-A | c.15007+1G>T | - | IntronicSNV | - | 22/24 | 1 |
7-82430837-C-T | c.15004G>A | p.E5002K | Missense | 22/25 | - | 1 |
7-82430839-G-C | c.15002C>G | p.T5001S | Missense | 22/25 | - | 2 |
7-82430840-T-G | c.15001A>C | p.T5001P | Missense | 22/25 | - | 1 |
7-82430842-T-C | c.14999A>G | p.D5000G | Missense | 22/25 | - | 1 |
7-82430850-T-A | c.14991A>T | p.G4997= | Synonymous | 22/25 | - | 1 |
7-82430850-T-C | c.14991A>G | p.G4997= | Synonymous | 22/25 | - | 2 |
7-82430850-T-G | c.14991A>C | p.G4997= | Synonymous | 22/25 | - | 1 |
7-82430852-C-A | c.14989G>T | p.G4997* | Nonsense | 22/25 | - | 1 |
7-82430852-C-T | c.14989G>A | p.G4997R | Missense | 22/25 | - | 1 |
7-82430854-A-G | c.14987T>C | p.V4996A | Missense | 22/25 | - | 2 |
7-82430857-C-T | c.14984G>A | p.G4995E | Missense | 22/25 | - | 1 |
7-82430864-C-A | c.14977G>T | p.G4993W | Missense | 22/25 | - | 1 |
7-82430865-T-A | c.14976A>T | p.P4992= | Synonymous | 22/25 | - | 1 |
7-82430865-T-C | c.14976A>G | p.P4992= | Synonymous | 22/25 | - | 1 |
7-82430865-T-G | c.14976A>C | p.P4992= | Synonymous | 22/25 | - | 1 |
7-82430867-G-T | c.14974C>A | p.P4992T | Missense | 22/25 | - | 1 |
7-82430869-T-A | c.14972A>T | p.Q4991L | Missense | 22/25 | - | 1 |
7-82430869-T-C | c.14972A>G | p.Q4991R | Missense | 22/25 | - | 2 |
7-82430870-G-A | c.14971C>T | p.Q4991* | Nonsense | 22/25 | - | 1 |
7-82430871-T-A | c.14970A>T | p.K4990N | Missense | 22/25 | - | 4 |
7-82430871-T-G | c.14970A>C | p.K4990N | Missense | 22/25 | - | 2 |
7-82430878-G-A | c.14963C>T | p.P4988L | Missense | 22/25 | - | 2 |
7-82430881-T-A | c.14960A>T | p.E4987V | Missense | 22/25 | - | 1 |
7-82430882-C-T | c.14959G>A | p.E4987K | Missense | 22/25 | - | 1 |
7-82430887-C-G | c.14954G>C | p.G4985A | Missense | 22/25 | - | 1 |
7-82430887-C-T | c.14954G>A | p.G4985E | Missense | 22/25 | - | 1 |
7-82430888-C-T | c.14953G>A | p.G4985R | Missense | 22/25 | - | 6 |
7-82430889-A-G | c.14952T>C | p.N4984= | Synonymous | 22/25 | - | 1 |
7-82430889-A-T | c.14952T>A | p.N4984K | Missense | 22/25 | - | 1 |
7-82430892-C-T | c.14949G>A | p.Q4983= | Synonymous | 22/25 | - | 4 |
7-82430893-T-A | c.14948A>T | p.Q4983L | Missense | 22/25 | - | 3 |
7-82430894-G-T | c.14947C>A | p.Q4983K | Missense | 22/25 | - | 1 |
7-82430896-C-T | c.14945G>A | p.G4982E | Missense | 22/25 | - | 3 |
7-82430897-C-G | c.14944G>C | p.G4982R | Missense | 22/25 | - | 2 |
7-82430897-C-T | c.14944G>A | p.G4982R | Missense | 22/25 | - | 3 |
7-82430898-C-T | c.14943G>A | p.M4981I | Missense | 22/25 | - | 4 |
7-82430901-C-T | c.14940G>A | p.K4980= | Synonymous | 22/25 | - | 1 |
7-82430902-T-A | c.14939A>T | p.K4980M | Missense | 22/25 | - | 1 |
7-82430902-T-C | c.14939A>G | p.K4980R | Missense | 22/25 | - | 1 |
7-82430904-C-A | c.14937G>T | p.G4979= | Synonymous | 22/25 | - | 1 |
7-82430904-C-G | c.14937G>C | p.G4979= | Synonymous | 22/25 | - | 1 |
7-82430904-C-T | c.14937G>A | p.G4979= | Synonymous | 22/25 | - | 2 |
7-82430905-C-T | c.14936G>A | p.G4979E | Missense | 22/25 | - | 4 |
7-82430906-C-A | c.14935G>T | p.G4979W | Missense | 22/25 | - | 1 |
7-82432458-A-G | c.14934-1551T>C | - | IntronicSNV | - | 21/24 | 1 |
7-82433535-G-T | c.14933+1469C>A | - | IntronicSNV | - | 21/24 | 1 |
7-82434904-C-G | c.14933+100G>C | - | IntronicSNV | - | 21/24 | 1 |
7-82434950-G-T | c.14933+54C>A | - | IntronicSNV | - | 21/24 | 1 |
7-82435004-A-G | c.14933T>C | p.I4978T | Missense | 21/25 | - | 1 |
7-82435008-T-C | c.14929A>G | p.R4977G | Missense | 21/25 | - | 1 |
7-82435009-C-T | c.14928G>A | p.P4976= | Synonymous | 21/25 | - | 3 |
7-82435011-G-A | c.14926C>T | p.P4976S | Missense | 21/25 | - | 1 |
7-82435014-T-C | c.14923A>G | p.I4975V | Missense | 21/25 | - | 1 |
7-82435016-G-A | c.14921C>T | p.P4974L | Missense | 21/25 | - | 6 |
7-82435016-G-C | c.14921C>G | p.P4974R | Missense | 21/25 | - | 2 |
7-82435017-G-A | c.14920C>T | p.P4974S | Missense | 21/25 | - | 4 |
7-82435019-A-C | c.14918T>G | p.F4973C | Missense | 21/25 | - | 1 |
7-82435023-G-T | c.14914C>A | p.L4972I | Missense | 21/25 | - | 2 |
7-82435028-G-A | c.14909C>T | p.T4970I | Missense | 21/25 | - | 3 |
7-82435030-C-T | c.14907G>A | p.E4969= | Synonymous | 21/25 | - | 2 |
7-82435032-C-T | c.14905G>A | p.E4969K | Missense | 21/25 | - | 1 |
7-82435033-C-A | c.14904G>T | p.G4968= | Synonymous | 21/25 | - | 3 |
7-82435033-C-G | c.14904G>C | p.G4968= | Synonymous | 21/25 | - | 3 |
7-82435033-C-T | c.14904G>A | p.G4968= | Synonymous | 21/25 | - | 21 |
7-82435034-C-A | c.14903G>T | p.G4968V | Missense | 21/25 | - | 1 |
7-82435035-C-A | c.14902G>T | p.G4968W | Missense | 21/25 | - | 1 |
7-82435036-T-A | c.14901A>T | p.A4967= | Synonymous | 21/25 | - | 2 |
7-82435036-T-C | c.14901A>G | p.A4967= | Synonymous | 21/25 | - | 3 |
7-82435036-T-G | c.14901A>C | p.A4967= | Synonymous | 21/25 | - | 2 |
7-82435054-T-G | c.14883A>C | p.E4961D | Missense | 21/25 | - | 1 |
7-82435061-T-A | c.14876A>T | p.D4959V | Missense | 21/25 | - | 1 |
7-82435061-T-C | c.14876A>G | p.D4959G | Missense | 21/25 | - | 1 |
7-82435062-C-T | c.14875G>A | p.D4959N | Missense | 21/25 | - | 1 |
7-82435065-C-T | c.14872G>A | p.V4958M | Missense | 21/25 | - | 2 |
7-82435066-G-A | c.14871C>T | p.S4957= | Synonymous | 21/25 | - | 3 |
7-82435068-T-A | c.14869A>T | p.S4957C | Missense | 21/25 | - | 1 |
7-82435068-T-C | c.14869A>G | p.S4957G | Missense | 21/25 | - | 2 |
7-82435077-T-G | c.14860A>C | p.S4954R | Missense | 21/25 | - | 1 |
7-82435077-T-C | c.14860A>G | p.S4954G | Missense | 21/25 | - | 1 |
7-82435088-C-G | c.14849G>C | p.S4950T | Missense | 21/25 | - | 1 |
7-82435089-T-C | c.14848A>G | p.S4950G | Missense | 21/25 | - | 2 |
7-82435091-C-T | c.14846G>A | p.G4949D | Missense | 21/25 | - | 1 |
7-82435093-C-G | c.14844G>C | p.S4948= | Synonymous | 21/25 | - | 1 |
7-82435093-C-T | c.14844G>A | p.S4948= | Synonymous | 21/25 | - | 4 |
7-82435101-C-A | c.14836G>T | p.G4946C | Missense | 21/25 | - | 1 |
7-82435106-G-A | c.14831C>T | p.S4944F | Missense | 21/25 | - | 1 |
7-82435112-G-A | c.14825C>T | p.S4942F | Missense | 21/25 | - | 1 |
7-82435119-C-T | c.14818G>A | p.E4940K | Missense | 21/25 | - | 2 |
7-82435121-G-A | c.14816C>T | p.A4939V | Missense | 21/25 | - | 2 |
7-82435124-G-T | c.14813C>A | p.P4938H | Missense | 21/25 | - | 2 |
7-82435131-G-A | c.14806C>T | p.H4936Y | Missense | 21/25 | - | 1 |
7-82435135-G-A | c.14802C>T | p.P4934= | Synonymous | 21/25 | - | 1 |
7-82435135-G-C | c.14802C>G | p.P4934= | Synonymous | 21/25 | - | 1 |
7-82435137-G-A | c.14800C>T | p.P4934S | Missense | 21/25 | - | 2 |
7-82435139-G-A | c.14798C>T | p.P4933L | Missense | 21/25 | - | 2 |
7-82435139-G-C | c.14798C>G | p.P4933R | Missense | 21/25 | - | 1 |
7-82435141-C-T | c.14796G>A | p.K4932= | Synonymous | 21/25 | - | 1 |
7-82435142-T-C | c.14795A>G | p.K4932R | Missense | 21/25 | - | 1 |
7-82448100-T-C | c.14791+3711A>G | - | IntronicSNV | - | 20/24 | 1 |
7-82448405-C-T | c.14791+3406G>A | - | IntronicSNV | - | 20/24 | 2 |
7-82449840-G-T | c.14791+1971C>A | - | IntronicSNV | - | 20/24 | 1 |
7-82450035-A-C | c.14791+1776T>G | - | IntronicSNV | - | 20/24 | 10 |
7-82450045-T-C | c.14791+1766A>G | - | IntronicSNV | - | 20/24 | 1 |
7-82450251-C-T | c.14791+1560G>A | - | IntronicSNV | - | 20/24 | 1 |
7-82450287-G-A | c.14791+1524C>T | - | IntronicSNV | - | 20/24 | 1 |
7-82450292-G-A | c.14791+1519C>T | - | IntronicSNV | - | 20/24 | 1 |
7-82450325-T-G | c.14791+1486A>C | - | IntronicSNV | - | 20/24 | 1 |
7-82450364-A-G | c.14791+1447T>C | - | IntronicSNV | - | 20/24 | 2 |
7-82450564-T-C | c.14791+1247A>G | - | IntronicSNV | - | 20/24 | 1 |
7-82451425-G-T | c.14791+386C>A | - | IntronicSNV | - | 20/24 | 1 |
7-82451558-T-C | c.14791+253A>G | - | IntronicSNV | - | 20/24 | 2 |
7-82451558-T-G | c.14791+253A>C | - | IntronicSNV | - | 20/24 | 2 |
7-82451620-T-A | c.14791+191A>T | - | IntronicSNV | - | 20/24 | 1 |
7-82451667-T-C | c.14791+144A>G | - | IntronicSNV | - | 20/24 | 1 |
7-82451669-G-A | c.14791+142C>T | - | IntronicSNV | - | 20/24 | 1 |
7-82451676-C-G | c.14791+135G>C | - | IntronicSNV | - | 20/24 | 1 |
7-82451694-G-T | c.14791+117C>A | - | IntronicSNV | - | 20/24 | 1 |
7-82451698-AG-A | c.14791+112del | - | IntronicDeletion | - | 20/24 | 1 |
7-82451801-C-A | c.14791+10G>T | - | IntronicSNV | - | 20/24 | 2 |
7-82451801-C-T | c.14791+10G>A | - | IntronicSNV | - | 20/24 | 2 |
7-82451802-G-A | c.14791+9C>T | - | IntronicSNV | - | 20/24 | 2 |
7-82451804-C-G | c.14791+7G>C | - | IntronicSNV | - | 20/24 | 1 |
7-82451813-G-A | c.14789C>T | p.P4930L | Missense | 20/25 | - | 1 |
7-82451814-G-A | c.14788C>T | p.P4930S | Missense | 20/25 | - | 1 |
7-82451817-G-A | c.14785C>T | p.Q4929* | Nonsense | 20/25 | - | 1 |
7-82451817-G-T | c.14785C>A | p.Q4929K | Missense | 20/25 | - | 1 |
7-82451822-C-A | c.14780G>T | p.R4927L | Missense | 20/25 | - | 1 |
7-82451822-C-T | c.14780G>A | p.R4927H | Missense | 20/25 | - | 4 |
7-82451823-G-A | c.14779C>T | p.R4927C | Missense | 20/25 | - | 5 |
7-82451832-G-C | c.14770C>G | p.Q4924E | Missense | 20/25 | - | 1 |
7-82451833-C-T | c.14769G>A | p.V4923= | Synonymous | 20/25 | - | 3 |
7-82451836-G-A | c.14766C>T | p.A4922= | Synonymous | 20/25 | - | 2 |
7-82451836-G-C | c.14766C>G | p.A4922= | Synonymous | 20/25 | - | 1 |
7-82451836-G-T | c.14766C>A | p.A4922= | Synonymous | 20/25 | - | 2 |
7-82451837-G-A | c.14765C>T | p.A4922V | Missense | 20/25 | - | 1 |
7-82451844-C-T | c.14758G>A | p.E4920K | Missense | 20/25 | - | 1 |
7-82451845-G-A | c.14757C>T | p.A4919= | Synonymous | 20/25 | - | 4 |
7-82451845-G-C | c.14757C>G | p.A4919= | Synonymous | 20/25 | - | 2 |
7-82451845-G-T | c.14757C>A | p.A4919= | Synonymous | 20/25 | - | 2 |
7-82451849-G-T | c.14753C>A | p.A4918D | Missense | 20/25 | - | 2 |
7-82451858-G-A | c.14744C>T | p.A4915V | Missense | 20/25 | - | 2 |
7-82451858-G-C | c.14744C>G | p.A4915G | Missense | 20/25 | - | 2 |
7-82451858-G-T | c.14744C>A | p.A4915D | Missense | 20/25 | - | 1 |
7-82451859-C-T | c.14743G>A | p.A4915T | Missense | 20/25 | - | 2 |
7-82451862-C-A | c.14740G>T | p.A4914S | Missense | 20/25 | - | 1 |
7-82451862-C-G | c.14740G>C | p.A4914P | Missense | 20/25 | - | 1 |
7-82451862-C-T | c.14740G>A | p.A4914T | Missense | 20/25 | - | 1 |
7-82451863-C-A | c.14739G>T | p.G4913= | Synonymous | 20/25 | - | 2 |
7-82451863-C-G | c.14739G>C | p.G4913= | Synonymous | 20/25 | - | 1 |
7-82451863-C-T | c.14739G>A | p.G4913= | Synonymous | 20/25 | - | 1 |
7-82451865-C-T | c.14737G>A | p.G4913R | Missense | 20/25 | - | 4 |
7-82451867-G-A | c.14735C>T | p.A4912V | Missense | 20/25 | - | 1 |
7-82451868-C-T | c.14734G>A | p.A4912T | Missense | 20/25 | - | 1 |
7-82451873-T-C | c.14729A>G | p.E4910G | Missense | 20/25 | - | 1 |
7-82451874-C-T | c.14728G>A | p.E4910K | Missense | 20/25 | - | 8 |
7-82451875-C-A | c.14727G>T | p.L4909= | Synonymous | 20/25 | - | 1 |
7-82451878-G-T | c.14724C>A | p.H4908Q | Missense | 20/25 | - | 1 |
7-82451879-T-G | c.14723A>C | p.H4908P | Missense | 20/25 | - | 1 |
7-82451880-G-T | c.14722C>A | p.H4908N | Missense | 20/25 | - | 1 |
7-82451883-T-C | c.14719A>G | p.T4907A | Missense | 20/25 | - | 4 |
7-82451883-T-G | c.14719A>C | p.T4907P | Missense | 20/25 | - | 1 |
7-82451885-T-A | c.14717A>T | p.Q4906L | Missense | 20/25 | - | 1 |
7-82451886-G-C | c.14716C>G | p.Q4906E | Missense | 20/25 | - | 3 |
7-82451893-G-A | c.14709C>T | p.S4903= | Synonymous | 20/25 | - | 4 |
7-82451896-G-A | c.14706C>T | p.T4902= | Synonymous | 20/25 | - | 1 |
7-82451896-G-T | c.14706C>A | p.T4902= | Synonymous | 20/25 | - | 2 |
7-82451897-G-A | c.14705C>T | p.T4902I | Missense | 20/25 | - | 1 |
7-82451900-T-C | c.14702A>G | p.K4901R | Missense | 20/25 | - | 8 |
7-82451912-C-T | c.14690G>A | p.R4897H | Missense | 20/25 | - | 3 |
7-82451913-G-A | c.14689C>T | p.R4897C | Missense | 20/25 | - | 1 |
7-82451913-G-C | c.14689C>G | p.R4897G | Missense | 20/25 | - | 1 |
7-82451918-G-C | c.14684C>G | p.P4895R | Missense | 20/25 | - | 1 |
7-82451921-C-T | c.14681G>A | p.G4894E | Missense | 20/25 | - | 6 |
7-82451924-T-G | c.14678A>C | p.H4893P | Missense | 20/25 | - | 1 |
7-82451925-G-A | c.14677C>T | p.H4893Y | Missense | 20/25 | - | 3 |
7-82451929-A-C | c.14673T>G | p.R4891= | Synonymous | 20/25 | - | 1 |
7-82451929-A-G | c.14673T>C | p.R4891= | Synonymous | 20/25 | - | 1 |
7-82451929-A-T | c.14673T>A | p.R4891= | Synonymous | 20/25 | - | 1 |
7-82451930-C-T | c.14672G>A | p.R4891H | Missense | 20/25 | - | 4 |
7-82451931-G-A | c.14671C>T | p.R4891C | Missense | 20/25 | - | 1 |
7-82451931-G-C | c.14671C>G | p.R4891G | Missense | 20/25 | - | 1 |
7-82451934-G-A | c.14668C>T | p.L4890F | Missense | 20/25 | - | 1 |
7-82451938-G-A | c.14664C>T | p.G4888= | Synonymous | 20/25 | - | 3 |
7-82451938-G-C | c.14664C>G | p.G4888= | Synonymous | 20/25 | - | 4 |
7-82451938-G-T | c.14664C>A | p.G4888= | Synonymous | 20/25 | - | 4 |
7-82451940-C-A | c.14662G>T | p.G4888C | Missense | 20/25 | - | 2 |
7-82451940-C-T | c.14662G>A | p.G4888S | Missense | 20/25 | - | 1 |
7-82451944-T-C | c.14658A>G | p.S4886= | Synonymous | 20/25 | - | 3 |
7-82451946-A-G | c.14656T>C | p.S4886P | Missense | 20/25 | - | 1 |
7-82451948-G-A | c.14654C>T | p.S4885L | Missense | 20/25 | - | 3 |
7-82451951-G-A | c.14651C>T | p.S4884L | Missense | 20/25 | - | 2 |
7-82451951-G-C | c.14651C>G | p.S4884* | Nonsense | 20/25 | - | 1 |
7-82451951-G-T | c.14651C>A | p.S4884* | Nonsense | 20/25 | - | 1 |
7-82451955-T-A | c.14647A>T | p.K4883* | Nonsense | 20/25 | - | 1 |
7-82451957-G-C | c.14645C>G | p.S4882* | Nonsense | 20/25 | - | 1 |
7-82451957-G-T | c.14645C>A | p.S4882* | Nonsense | 20/25 | - | 1 |
7-82451958-A-G | c.14644T>C | p.S4882P | Missense | 20/25 | - | 1 |
7-82451963-C-T | c.14639G>A | p.G4880D | Missense | 20/25 | - | 1 |
7-82451966-G-A | c.14636C>T | p.P4879L | Missense | 20/25 | - | 6 |
7-82451972-C-A | c.14630G>T | p.S4877I | Missense | 20/25 | - | 1 |
7-82451976-G-A | c.14626C>T | p.H4876Y | Missense | 20/25 | - | 6 |
7-82451977-G-A | c.14625C>T | p.S4875= | Synonymous | 20/25 | - | 1 |
7-82451978-G-A | c.14624C>T | p.S4875F | Missense | 20/25 | - | 2 |
7-82451983-C-T | c.14619G>A | p.E4873= | Synonymous | 20/25 | - | 1 |
7-82451984-T-A | c.14618A>T | p.E4873V | Missense | 20/25 | - | 1 |
7-82451988-T-C | c.14614A>G | p.I4872V | Missense | 20/25 | - | 1 |
7-82451989-G-A | c.14613C>T | p.T4871= | Synonymous | 20/25 | - | 2 |
7-82451990-G-C | c.14612C>G | p.T4871S | Missense | 20/25 | - | 1 |
7-82451991-T-C | c.14611A>G | p.T4871A | Missense | 20/25 | - | 1 |
7-82451994-G-A | c.14608C>T | p.P4870S | Missense | 20/25 | - | 1 |
7-82451997-C-A | c.14605G>T | p.V4869F | Missense | 20/25 | - | 1 |
7-82451998-C-A | c.14604G>T | p.Q4868H | Missense | 20/25 | - | 1 |
7-82451998-C-G | c.14604G>C | p.Q4868H | Missense | 20/25 | - | 1 |
7-82452001-C-A | c.14601G>T | p.M4867I | Missense | 20/25 | - | 2 |
7-82452001-C-G | c.14601G>C | p.M4867I | Missense | 20/25 | - | 1 |
7-82452001-C-T | c.14601G>A | p.M4867I | Missense | 20/25 | - | 1 |
7-82452003-T-A | c.14599A>T | p.M4867L | Missense | 20/25 | - | 1 |
7-82452042-T-C | c.14597-37A>G | - | IntronicSNV | - | 19/24 | 1 |
7-82453553-C-A | c.14595G>T | p.K4865N | Missense | 19/25 | - | 2 |
7-82453553-C-G | c.14595G>C | p.K4865N | Missense | 19/25 | - | 1 |
7-82453556-T-C | c.14592A>G | p.S4864= | Synonymous | 19/25 | - | 2 |
7-82453560-G-T | c.14588C>A | p.P4863Q | Missense | 19/25 | - | 1 |
7-82453563-T-C | c.14585A>G | p.D4862G | Missense | 19/25 | - | 2 |
7-82453564-C-G | c.14584G>C | p.D4862H | Missense | 19/25 | - | 2 |
7-82453565-CAG-C | c.14582_14583del | p.P4861Rfs*12 | Frameshift | 19/25 | - | 1 |
7-82453567-G-A | c.14581C>T | p.P4861S | Missense | 19/25 | - | 2 |
7-82453568-G-A | c.14580C>T | p.F4860= | Synonymous | 19/25 | - | 3 |
7-82453571-G-A | c.14577C>T | p.I4859= | Synonymous | 19/25 | - | 1 |
7-82453571-G-T | c.14577C>A | p.I4859= | Synonymous | 19/25 | - | 1 |
7-82453572-A-C | c.14576T>G | p.I4859S | Missense | 19/25 | - | 1 |
7-82453572-A-G | c.14576T>C | p.I4859T | Missense | 19/25 | - | 3 |
7-82453581-C-A | c.14567G>T | p.S4856I | Missense | 19/25 | - | 1 |
7-82453586-G-A | c.14562C>T | p.S4854= | Synonymous | 19/25 | - | 1 |
7-82453592-G-A | c.14556C>T | p.I4852= | Synonymous | 19/25 | - | 4 |
7-82453592-G-C | c.14556C>G | p.I4852M | Missense | 19/25 | - | 1 |
7-82453592-G-T | c.14556C>A | p.I4852= | Synonymous | 19/25 | - | 1 |
7-82453599-G-A | c.14549C>T | p.S4850F | Missense | 19/25 | - | 1 |
7-82453602-G-A | c.14546C>T | p.P4849L | Missense | 19/25 | - | 1 |
7-82453604-C-CT | c.14543dup | p.P4849Afs*14 | Frameshift | 19/25 | - | 1 |
7-82453610-G-A | c.14538C>T | p.S4846= | Synonymous | 19/25 | - | 1 |
7-82453611-G-A | c.14537C>T | p.S4846F | Missense | 19/25 | - | 2 |
7-82453613-C-T | c.14535G>A | p.Q4845= | Synonymous | 19/25 | - | 2 |
7-82453614-T-C | c.14534A>G | p.Q4845R | Missense | 19/25 | - | 1 |
7-82453616-C-T | c.14532G>A | p.Q4844= | Synonymous | 19/25 | - | 1 |
7-82453617-T-C | c.14531A>G | p.Q4844R | Missense | 19/25 | - | 1 |
7-82453618-G-T | c.14530C>A | p.Q4844K | Missense | 19/25 | - | 1 |
7-82453627-G-A | c.14521C>T | p.Q4841* | Nonsense | 19/25 | - | 2 |
7-82453631-G-A | c.14517C>T | p.S4839= | Synonymous | 19/25 | - | 5 |
7-82453632-G-A | c.14516C>T | p.S4839F | Missense | 19/25 | - | 5 |
7-82453635-T-C | c.14513A>G | p.H4838R | Missense | 19/25 | - | 3 |
7-82453635-T-G | c.14513A>C | p.H4838P | Missense | 19/25 | - | 1 |
7-82453639-A-G | c.14509T>C | p.S4837P | Missense | 19/25 | - | 1 |
7-82453641-T-G | c.14507A>C | p.K4836T | Missense | 19/25 | - | 1 |
7-82453642-T-C | c.14506A>G | p.K4836E | Missense | 19/25 | - | 1 |
7-82453644-C-T | c.14504G>A | p.G4835D | Missense | 19/25 | - | 2 |
7-82453645-C-T | c.14503G>A | p.G4835S | Missense | 19/25 | - | 1 |
7-82453647-T-A | c.14501A>T | p.H4834L | Missense | 19/25 | - | 1 |
7-82453647-T-G | c.14501A>C | p.H4834P | Missense | 19/25 | - | 1 |
7-82453648-G-A | c.14500C>T | p.H4834Y | Missense | 19/25 | - | 8 |
7-82453651-C-T | c.14497G>A | p.D4833N | Missense | 19/25 | - | 3 |
7-82453652-A-C | c.14496T>G | p.I4832M | Missense | 19/25 | - | 1 |
7-82453655-G-A | c.14493C>T | p.S4831= | Synonymous | 19/25 | - | 1 |
7-82453669-C-T | c.14479G>A | p.E4827K | Missense | 19/25 | - | 2 |
7-82453671-T-G | c.14477A>C | p.K4826T | Missense | 19/25 | - | 1 |
7-82453672-T-C | c.14476A>G | p.K4826E | Missense | 19/25 | - | 2 |
7-82453677-G-A | c.14471C>T | p.P4824L | Missense | 19/25 | - | 4 |
7-82453682-C-T | c.14466G>A | p.W4822* | Nonsense | 19/25 | - | 2 |
7-82453683-C-A | c.14465G>T | p.W4822L | Missense | 19/25 | - | 2 |
7-82453683-C-T | c.14465G>A | p.W4822* | Nonsense | 19/25 | - | 2 |
7-82453686-C-T | c.14462G>A | p.R4821K | Missense | 19/25 | - | 1 |
7-82453699-C-T | c.14449G>A | p.D4817N | Missense | 19/25 | - | 3 |
7-82453702-G-A | c.14446C>T | p.L4816F | Missense | 19/25 | - | 1 |
7-82453706-A-C | c.14442T>G | p.S4814= | Synonymous | 19/25 | - | 1 |
7-82453706-A-G | c.14442T>C | p.S4814= | Synonymous | 19/25 | - | 1 |
7-82453706-A-T | c.14442T>A | p.S4814= | Synonymous | 19/25 | - | 1 |
7-82453708-A-C | c.14440T>G | p.S4814A | Missense | 19/25 | - | 70 |
7-82453711-T-C | c.14437A>G | p.T4813A | Missense | 19/25 | - | 1 |
7-82453712-G-C | c.14436C>G | p.S4812R | Missense | 19/25 | - | 1 |
7-82453713-C-A | c.14435G>T | p.S4812I | Missense | 19/25 | - | 1 |
7-82453716-G-A | c.14432C>T | p.S4811F | Missense | 19/25 | - | 3 |
7-82453722-T-C | c.14426A>G | p.D4809G | Missense | 19/25 | - | 1 |
7-82453723-C-T | c.14425G>A | p.D4809N | Missense | 19/25 | - | 5 |
7-82453730-T-A | c.14418A>T | p.V4806= | Synonymous | 19/25 | - | 1 |
7-82453732-C-A | c.14416G>T | p.V4806L | Missense | 19/25 | - | 1 |
7-82454404-C-G | c.14416-672G>C | - | IntronicSNV | - | 18/24 | 2 |
7-82454404-C-T | c.14416-672G>A | - | IntronicSNV | - | 18/24 | 2 |
7-82455885-AAAGGAAGTCAGAGGCTTACCTCCCC-A | c.14410_14415+19del | - | SpliceDonorDeletion | 18/25 | 18/24 | 1 |
7-82455895-A-G | c.14415+10T>C | - | IntronicSNV | - | 18/24 | 9 |
7-82455904-C-A | c.14415+1G>T | - | IntronicSNV | - | 18/24 | 1 |
7-82455905-C-T | c.14415G>A | p.E4805= | Synonymous | 18/25 | - | 2 |
7-82455907-C-T | c.14413G>A | p.E4805K | Missense | 18/25 | - | 5 |
7-82455909-C-A | c.14411G>T | p.G4804V | Missense | 18/25 | - | 2 |
7-82455909-CC-TA | c.14410_14411delinsTA | p.G4804* | Nonsense | 18/25 | - | 1 |
7-82455909-C-T | c.14411G>A | p.G4804E | Missense | 18/25 | - | 1 |
7-82455910-C-A | c.14410G>T | p.G4804W | Missense | 18/25 | - | 2 |
7-82455911-A-C | c.14409T>G | p.L4803= | Synonymous | 18/25 | - | 1 |
7-82455913-G-A | c.14407C>T | p.L4803F | Missense | 18/25 | - | 5 |
7-82455914-G-A | c.14406C>T | p.F4802= | Synonymous | 18/25 | - | 1 |
7-82455914-G-T | c.14406C>A | p.F4802L | Missense | 18/25 | - | 1 |
7-82455920-G-A | c.14400C>T | p.N4800= | Synonymous | 18/25 | - | 1 |
7-82455920-G-T | c.14400C>A | p.N4800K | Missense | 18/25 | - | 1 |
7-82455921-T-C | c.14399A>G | p.N4800S | Missense | 18/25 | - | 1 |
7-82455923-G-C | c.14397C>G | p.S4799= | Synonymous | 18/25 | - | 1 |
7-82455927-G-A | c.14393C>T | p.S4798L | Missense | 18/25 | - | 2 |
7-82455933-C-T | c.14387G>A | p.R4796K | Missense | 18/25 | - | 1 |
7-82455937-C-T | c.14383G>A | p.D4795N | Missense | 18/25 | - | 2 |
7-82455940-A-G | c.14380T>C | p.Y4794H | Missense | 18/25 | - | 3 |
7-82455943-C-A | c.14377G>T | p.D4793Y | Missense | 18/25 | - | 1 |
7-82455945-C-A | c.14375G>T | p.W4792L | Missense | 18/25 | - | 1 |
7-82455949-C-T | c.14371G>A | p.V4791I | Missense | 18/25 | - | 1 |
7-82455955-C-T | c.14365G>A | p.V4789M | Missense | 18/25 | - | 3 |
7-82455957-T-C | c.14363A>G | p.E4788G | Missense | 18/25 | - | 1 |
7-82455959-C-T | c.14361G>A | p.L4787= | Synonymous | 18/25 | - | 3 |
7-82455963-G-A | c.14357C>T | p.T4786I | Missense | 18/25 | - | 1 |
7-82455970-T-C | c.14350A>G | p.K4784E | Missense | 18/25 | - | 1 |
7-82455971-C-A | c.14349G>T | p.K4783N | Missense | 18/25 | - | 1 |
7-82455971-C-G | c.14349G>C | p.K4783N | Missense | 18/25 | - | 1 |
7-82455974-G-A | c.14346C>T | p.L4782= | Synonymous | 18/25 | - | 1 |
7-82456046-T-G | c.14344-70A>C | - | IntronicSNV | - | 17/24 | 2 |
7-82457190-T-A | c.14342A>T | p.Q4781L | Missense | 17/25 | - | 2 |
7-82457191-G-A | c.14341C>T | p.Q4781* | Nonsense | 17/25 | - | 1 |
7-82457194-C-T | c.14338G>A | p.E4780K | Missense | 17/25 | - | 3 |
7-82457195-C-T | c.14337G>A | p.M4779I | Missense | 17/25 | - | 5 |
7-82457197-T-C | c.14335A>G | p.M4779V | Missense | 17/25 | - | 1 |
7-82457199-G-A | c.14333C>T | p.S4778F | Missense | 17/25 | - | 2 |
7-82457201-A-C | c.14331T>G | p.I4777M | Missense | 17/25 | - | 3 |
7-82457202-A-G | c.14330T>C | p.I4777T | Missense | 17/25 | - | 1 |
7-82457203-T-G | c.14329A>C | p.I4777L | Missense | 17/25 | - | 1 |
7-82457205-C-T | c.14327G>A | p.S4776N | Missense | 17/25 | - | 1 |
7-82457211-T-C | c.14321A>G | p.Y4774C | Missense | 17/25 | - | 1 |
7-82457211-T-G | c.14321A>C | p.Y4774S | Missense | 17/25 | - | 1 |
7-82457212-A-C | c.14320T>G | p.Y4774D | Missense | 17/25 | - | 1 |
7-82457215-T-A | c.14317A>T | p.I4773F | Missense | 17/25 | - | 3 |
7-82457219-T-A | c.14313A>T | p.T4771= | Synonymous | 17/25 | - | 1 |
7-82457219-T-C | c.14313A>G | p.T4771= | Synonymous | 17/25 | - | 1 |
7-82457219-T-G | c.14313A>C | p.T4771= | Synonymous | 17/25 | - | 1 |
7-82457220-G-C | c.14312C>G | p.T4771R | Missense | 17/25 | - | 2 |
7-82457223-T-A | c.14309A>T | p.Q4770L | Missense | 17/25 | - | 1 |
7-82457224-G-A | c.14308C>T | p.Q4770* | Nonsense | 17/25 | - | 2 |
7-82457224-G-T | c.14308C>A | p.Q4770K | Missense | 17/25 | - | 1 |
7-82457228-C-T | c.14304G>A | p.W4768* | Nonsense | 17/25 | - | 4 |
7-82457233-C-G | c.14299G>C | p.E4767Q | Missense | 17/25 | - | 1 |
7-82457233-C-T | c.14299G>A | p.E4767K | Missense | 17/25 | - | 1 |
7-82457235-G-A | c.14297C>T | p.P4766L | Missense | 17/25 | - | 6 |
7-82457236-G-A | c.14296C>T | p.P4766S | Missense | 17/25 | - | 2 |
7-82457236-G-T | c.14296C>A | p.P4766T | Missense | 17/25 | - | 1 |
7-82457246-T-G | c.14286A>C | p.K4762N | Missense | 17/25 | - | 1 |
7-82457251-G-T | c.14281C>A | p.Q4761K | Missense | 17/25 | - | 2 |
7-82457256-T-C | c.14276A>G | p.H4759R | Missense | 17/25 | - | 1 |
7-82457257-G-A | c.14275C>T | p.H4759Y | Missense | 17/25 | - | 1 |
7-82457261-A-G | c.14271T>C | p.T4757= | Synonymous | 17/25 | - | 1 |
7-82457265-C-T | c.14267G>A | p.R4756K | Missense | 17/25 | - | 2 |
7-82457266-T-G | c.14266A>C | p.R4756= | Synonymous | 17/25 | - | 1 |
7-82457269-T-C | c.14263A>G | p.R4755G | Missense | 17/25 | - | 2 |
7-82457271-T-G | c.14261A>C | p.K4754T | Missense | 17/25 | - | 1 |
7-82457494-T-A | c.14250-212A>T | - | IntronicSNV | - | 16/24 | 1 |
7-82462881-C-G | c.14249+2102G>C | - | IntronicSNV | - | 16/24 | 1 |
7-82464992-T-C | c.14240A>G | p.Q4747R | Missense | 16/25 | - | 1 |
7-82464999-C-T | c.14233G>A | p.V4745I | Missense | 16/25 | - | 1 |
7-82465000-C-G | c.14232G>C | p.M4744I | Missense | 16/25 | - | 1 |
7-82465002-T-C | c.14230A>G | p.M4744V | Missense | 16/25 | - | 1 |
7-82465003-G-A | c.14229C>T | p.V4743= | Synonymous | 16/25 | - | 2 |
7-82465003-G-C | c.14229C>G | p.V4743= | Synonymous | 16/25 | - | 1 |
7-82465003-G-T | c.14229C>A | p.V4743= | Synonymous | 16/25 | - | 1 |
7-82467227-T-C | c.14222+307A>G | - | IntronicSNV | - | 15/24 | 1 |
7-82467531-T-C | c.14222+3A>G | - | IntronicSNV | - | 15/24 | 1 |
7-82467534-C-T | c.14222G>A | p.G4741D | Missense | 15/25 | - | 1 |
7-82467535-C-A | c.14221G>T | p.G4741C | Missense | 15/25 | - | 1 |
7-82467535-C-T | c.14221G>A | p.G4741S | Missense | 15/25 | - | 1 |
7-82467539-C-T | c.14217G>A | p.G4739= | Synonymous | 15/25 | - | 1 |
7-82467547-G-T | c.14209C>A | p.L4737I | Missense | 15/25 | - | 2 |
7-82467548-A-G | c.14208T>C | p.L4736= | Synonymous | 15/25 | - | 1 |
7-82467549-A-C | c.14207T>G | p.L4736R | Missense | 15/25 | - | 1 |
7-82467552-T-A | c.14204A>T | p.Y4735F | Missense | 15/25 | - | 1 |
7-82467560-C-A | c.14196G>T | p.V4732= | Synonymous | 15/25 | - | 1 |
7-82467560-C-G | c.14196G>C | p.V4732= | Synonymous | 15/25 | - | 1 |
7-82467560-C-T | c.14196G>A | p.V4732= | Synonymous | 15/25 | - | 1 |
7-82467567-G-A | c.14189C>T | p.P4730L | Missense | 15/25 | - | 1 |
7-82467567-G-T | c.14189C>A | p.P4730H | Missense | 15/25 | - | 1 |
7-82467569-G-T | c.14187C>A | p.D4729E | Missense | 15/25 | - | 1 |
7-82467571-C-T | c.14185G>A | p.D4729N | Missense | 15/25 | - | 6 |
7-82467585-T-A | c.14171A>T | p.N4724I | Missense | 15/25 | - | 3 |
7-82467587-G-T | c.14169C>A | p.D4723E | Missense | 15/25 | - | 1 |
7-82467591-C-T | c.14165G>A | p.R4722Q | Missense | 15/25 | - | 3 |
7-82467598-C-G | c.14158G>C | p.V4720L | Missense | 15/25 | - | 1 |
7-82467601-G-A | c.14155C>T | p.L4719F | Missense | 15/25 | - | 4 |
7-82467606-C-G | c.14150G>C | p.R4717T | Missense | 15/25 | - | 4 |
7-82467614-G-T | c.14142C>A | p.L4714= | Synonymous | 15/25 | - | 1 |
7-82467616-G-A | c.14140C>T | p.L4714F | Missense | 15/25 | - | 1 |
7-82467621-T-C | c.14135A>G | p.H4712R | Missense | 15/25 | - | 1 |
7-82467627-A-C | c.14129T>G | p.I4710R | Missense | 15/25 | - | 2 |
7-82467629-G-A | c.14127C>T | p.L4709= | Synonymous | 15/25 | - | 2 |
7-82467629-G-C | c.14127C>G | p.L4709= | Synonymous | 15/25 | - | 2 |
7-82467629-G-T | c.14127C>A | p.L4709= | Synonymous | 15/25 | - | 3 |
7-82467649-T-C | c.14107A>G | p.N4703D | Missense | 15/25 | - | 2 |
7-82467655-G-A | c.14101C>T | p.Q4701* | Nonsense | 15/25 | - | 2 |
7-82470775-C-A | c.14097G>T | p.Q4699H | Missense | 14/25 | - | 1 |
7-82470775-C-G | c.14097G>C | p.Q4699H | Missense | 14/25 | - | 1 |
7-82470777-G-C | c.14095C>G | p.Q4699E | Missense | 14/25 | - | 1 |
7-82470781-T-A | c.14091A>T | p.E4697D | Missense | 14/25 | - | 1 |
7-82470783-C-G | c.14089G>C | p.E4697Q | Missense | 14/25 | - | 1 |
7-82470783-C-T | c.14089G>A | p.E4697K | Missense | 14/25 | - | 2 |
7-82470789-T-C | c.14083A>G | p.T4695A | Missense | 14/25 | - | 1 |
7-82470789-T-G | c.14083A>C | p.T4695P | Missense | 14/25 | - | 1 |
7-82470791-A-G | c.14081T>C | p.I4694T | Missense | 14/25 | - | 1 |
7-82470795-G-A | c.14077C>T | p.P4693S | Missense | 14/25 | - | 1 |
7-82470803-AC-CT | c.14068_14069delinsAG | p.V4690S | Missense | 14/25 | - | 1 |
7-82470806-A-T | c.14066T>A | p.V4689D | Missense | 14/25 | - | 1 |
7-82470808-C-A | c.14064G>T | p.K4688N | Missense | 14/25 | - | 1 |
7-82470809-T-C | c.14063A>G | p.K4688R | Missense | 14/25 | - | 1 |
7-82470816-C-T | c.14056G>A | p.G4686R | Missense | 14/25 | - | 4 |
7-82470819-C-A | c.14053G>T | p.D4685Y | Missense | 14/25 | - | 1 |
7-82470819-C-T | c.14053G>A | p.D4685N | Missense | 14/25 | - | 3 |
7-82470824-G-C | c.14048C>G | p.P4683R | Missense | 14/25 | - | 1 |
7-82474586-C-A | c.14046+1G>T | - | IntronicSNV | - | 13/24 | 1 |
7-82474586-C-T | c.14046+1G>A | - | IntronicSNV | - | 13/24 | 1 |
7-82474594-C-T | c.14039G>A | p.S4680N | Missense | 13/25 | - | 6 |
7-82474598-C-G | c.14035G>C | p.G4679R | Missense | 13/25 | - | 1 |
7-82474600-T-A | c.14033A>T | p.H4678L | Missense | 13/25 | - | 1 |
7-82474600-T-C | c.14033A>G | p.H4678R | Missense | 13/25 | - | 1 |
7-82474605-C-T | c.14028G>A | p.K4676= | Synonymous | 13/25 | - | 1 |
7-82474611-G-A | c.14022C>T | p.S4674= | Synonymous | 13/25 | - | 1 |
7-82474612-C-T | c.14021G>A | p.S4674N | Missense | 13/25 | - | 3 |
7-82474613-T-A | c.14020A>T | p.S4674C | Missense | 13/25 | - | 2 |
7-82474616-C-T | c.14017G>A | p.V4673M | Missense | 13/25 | - | 1 |
7-82474617-T-A | c.14016A>T | p.S4672= | Synonymous | 13/25 | - | 1 |
7-82474617-T-C | c.14016A>G | p.S4672= | Synonymous | 13/25 | - | 1 |
7-82474617-T-G | c.14016A>C | p.S4672= | Synonymous | 13/25 | - | 1 |
7-82474618-G-A | c.14015C>T | p.S4672L | Missense | 13/25 | - | 1 |
7-82474620-G-A | c.14013C>T | p.P4671= | Synonymous | 13/25 | - | 2 |
7-82474620-G-C | c.14013C>G | p.P4671= | Synonymous | 13/25 | - | 1 |
7-82474620-G-T | c.14013C>A | p.P4671= | Synonymous | 13/25 | - | 1 |
7-82474622-G-A | c.14011C>T | p.P4671S | Missense | 13/25 | - | 1 |
7-82474624-G-A | c.14009C>T | p.S4670F | Missense | 13/25 | - | 4 |
7-82474624-GA-TT | c.14008_14009delinsAA | p.S4670N | Missense | 13/25 | - | 1 |
7-82474624-G-C | c.14009C>G | p.S4670C | Missense | 13/25 | - | 2 |
7-82474625-A-G | c.14008T>C | p.S4670P | Missense | 13/25 | - | 2 |
7-82474625-A-T | c.14008T>A | p.S4670T | Missense | 13/25 | - | 1 |
7-82474627-C-T | c.14006G>A | p.G4669E | Missense | 13/25 | - | 2 |
7-82474628-C-T | c.14005G>A | p.G4669R | Missense | 13/25 | - | 2 |
7-82474630-G-A | c.14003C>T | p.P4668L | Missense | 13/25 | - | 4 |
7-82474630-G-C | c.14003C>G | p.P4668R | Missense | 13/25 | - | 1 |
7-82474635-C-A | c.13998G>T | p.G4666= | Synonymous | 13/25 | - | 2 |
7-82474637-C-A | c.13996G>T | p.G4666W | Missense | 13/25 | - | 1 |
7-82474642-C-A | c.13991G>T | p.S4664I | Missense | 13/25 | - | 4 |
7-82474644-G-A | c.13989C>T | p.P4663= | Synonymous | 13/25 | - | 1 |
7-82474644-G-C | c.13989C>G | p.P4663= | Synonymous | 13/25 | - | 1 |
7-82474644-G-T | c.13989C>A | p.P4663= | Synonymous | 13/25 | - | 1 |
7-82474649-C-A | c.13984G>T | p.V4662F | Missense | 13/25 | - | 2 |
7-82474649-C-T | c.13984G>A | p.V4662I | Missense | 13/25 | - | 2 |
7-82474650-G-A | c.13983C>T | p.S4661= | Synonymous | 13/25 | - | 2 |
7-82474651-G-A | c.13982C>T | p.S4661F | Missense | 13/25 | - | 3 |
7-82474655-T-A | c.13978A>T | p.S4660C | Missense | 13/25 | - | 1 |
7-82474661-C-G | c.13972G>C | p.G4658R | Missense | 13/25 | - | 1 |
7-82474661-C-T | c.13972G>A | p.G4658R | Missense | 13/25 | - | 2 |
7-82474664-C-T | c.13969G>A | p.A4657T | Missense | 13/25 | - | 1 |
7-82474666-G-A | c.13967C>T | p.S4656L | Missense | 13/25 | - | 1 |
7-82474669-G-T | c.13964C>A | p.T4655K | Missense | 13/25 | - | 4 |
7-82474672-G-T | c.13961C>A | p.P4654H | Missense | 13/25 | - | 1 |
7-82474675-C-A | c.13958G>T | p.G4653V | Missense | 13/25 | - | 1 |
7-82474676-C-G | c.13957G>C | p.G4653R | Missense | 13/25 | - | 1 |
7-82474677-T-A | c.13956A>T | p.S4652= | Synonymous | 13/25 | - | 2 |
7-82474678-G-A | c.13955C>T | p.S4652L | Missense | 13/25 | - | 2 |
7-82474682-G-A | c.13951C>T | p.H4651Y | Missense | 13/25 | - | 4 |
7-82474687-T-G | c.13946A>C | p.H4649P | Missense | 13/25 | - | 1 |
7-82474688-G-C | c.13945C>G | p.H4649D | Missense | 13/25 | - | 1 |
7-82474690-G-A | c.13943C>T | p.S4648F | Missense | 13/25 | - | 1 |
7-82474693-CC-TT | c.13939_13940delinsAA | p.G4647K | Missense | 13/25 | - | 2 |
7-82474693-C-T | c.13940G>A | p.G4647E | Missense | 13/25 | - | 7 |
7-82474694-C-A | c.13939G>T | p.G4647* | Nonsense | 13/25 | - | 1 |
7-82474694-C-G | c.13939G>C | p.G4647R | Missense | 13/25 | - | 2 |
7-82474694-C-T | c.13939G>A | p.G4647R | Missense | 13/25 | - | 4 |
7-82474694-C-CTTTTTTTTTT | c.13938_13939insAAAAAAAAAA | p.G4647Kfs*60 | Frameshift | 13/25 | - | 1 |
7-82474699-T-C | c.13934A>G | p.E4645G | Missense | 13/25 | - | 1 |
7-82474700-C-T | c.13933G>A | p.E4645K | Missense | 13/25 | - | 1 |
7-82474700-TCAACAACTGA-T | c.13924_13933del | p.S4642Kfs*29 | Frameshift | 13/25 | - | 1 |
7-82474703-C-T | c.13930G>A | p.V4644I | Missense | 13/25 | - | 3 |
7-82474706-C-T | c.13927G>A | p.V4643I | Missense | 13/25 | - | 1 |
7-82474711-G-A | c.13922C>T | p.S4641L | Missense | 13/25 | - | 1 |
7-82474717-A-C | c.13916T>G | p.V4639G | Missense | 13/25 | - | 1 |
7-82474717-AC-TT | c.13915_13916delinsAA | p.V4639N | Missense | 13/25 | - | 1 |
7-82474717-A-G | c.13916T>C | p.V4639A | Missense | 13/25 | - | 1 |
7-82474722-C-A | c.13911G>T | p.P4637= | Synonymous | 13/25 | - | 2 |
7-82474722-C-G | c.13911G>C | p.P4637= | Synonymous | 13/25 | - | 1 |
7-82474722-C-T | c.13911G>A | p.P4637= | Synonymous | 13/25 | - | 1 |
7-82474723-G-A | c.13910C>T | p.P4637L | Missense | 13/25 | - | 1 |
7-82474724-G-A | c.13909C>T | p.P4637S | Missense | 13/25 | - | 1 |
7-82474726-G-A | c.13907C>T | p.S4636L | Missense | 13/25 | - | 1 |
7-82474737-T-A | c.13896A>T | p.S4632= | Synonymous | 13/25 | - | 2 |
7-82474738-G-A | c.13895C>T | p.S4632L | Missense | 13/25 | - | 1 |
7-82474738-G-C | c.13895C>G | p.S4632* | Nonsense | 13/25 | - | 1 |
7-82474738-G-T | c.13895C>A | p.S4632* | Nonsense | 13/25 | - | 1 |
7-82474742-C-T | c.13891G>A | p.V4631I | Missense | 13/25 | - | 1 |
7-82474743-C-G | c.13890G>C | p.K4630N | Missense | 13/25 | - | 1 |
7-82474748-G-A | c.13885C>T | p.Q4629* | Nonsense | 13/25 | - | 4 |
7-82474751-G-A | c.13882C>T | p.L4628F | Missense | 13/25 | - | 1 |
7-82474754-C-A | c.13879G>T | p.E4627* | Nonsense | 13/25 | - | 1 |
7-82474754-C-T | c.13879G>A | p.E4627K | Missense | 13/25 | - | 2 |
7-82474757-C-T | c.13876G>A | p.A4626T | Missense | 13/25 | - | 2 |
7-82474759-G-T | c.13874C>A | p.A4625E | Missense | 13/25 | - | 1 |
7-82474760-C-A | c.13873G>T | p.A4625S | Missense | 13/25 | - | 1 |
7-82474760-C-T | c.13873G>A | p.A4625T | Missense | 13/25 | - | 1 |
7-82474764-C-T | c.13869G>A | p.Q4623= | Synonymous | 13/25 | - | 2 |
7-82474765-T-A | c.13868A>T | p.Q4623L | Missense | 13/25 | - | 1 |
7-82474768-T-A | c.13865A>T | p.K4622M | Missense | 13/25 | - | 3 |
7-82474768-T-G | c.13865A>C | p.K4622T | Missense | 13/25 | - | 2 |
7-82474772-G-A | c.13861C>T | p.P4621S | Missense | 13/25 | - | 2 |
7-82474772-G-C | c.13861C>G | p.P4621A | Missense | 13/25 | - | 1 |
7-82474772-G-T | c.13861C>A | p.P4621T | Missense | 13/25 | - | 1 |
7-82474775-C-A | c.13858G>T | p.D4620Y | Missense | 13/25 | - | 1 |
7-82474775-C-T | c.13858G>A | p.D4620N | Missense | 13/25 | - | 7 |
7-82474777-A-G | c.13856T>C | p.V4619A | Missense | 13/25 | - | 2 |
7-82474778-C-T | c.13855G>A | p.V4619I | Missense | 13/25 | - | 4 |
7-82474780-C-T | c.13853G>A | p.G4618E | Missense | 13/25 | - | 2 |
7-82474783-G-T | c.13850C>A | p.P4617Q | Missense | 13/25 | - | 1 |
7-82474784-G-A | c.13849C>T | p.P4617S | Missense | 13/25 | - | 1 |
7-82474784-G-T | c.13849C>A | p.P4617T | Missense | 13/25 | - | 1 |
7-82474786-G-A | c.13847C>T | p.S4616F | Missense | 13/25 | - | 2 |
7-82474787-A-G | c.13846T>C | p.S4616P | Missense | 13/25 | - | 1 |
7-82474791-C-A | c.13842G>T | p.A4614= | Synonymous | 13/25 | - | 4 |
7-82474791-C-G | c.13842G>C | p.A4614= | Synonymous | 13/25 | - | 2 |
7-82474791-C-T | c.13842G>A | p.A4614= | Synonymous | 13/25 | - | 4 |
7-82474793-C-T | c.13840G>A | p.A4614T | Missense | 13/25 | - | 4 |
7-82474794-C-A | c.13839G>T | p.K4613N | Missense | 13/25 | - | 1 |
7-82474794-C-G | c.13839G>C | p.K4613N | Missense | 13/25 | - | 1 |
7-82474800-C-A | c.13833G>T | p.V4611= | Synonymous | 13/25 | - | 1 |
7-82475557-T-A | c.13831+326A>T | - | IntronicSNV | - | 12/24 | 1 |
7-82475707-A-G | c.13831+176T>C | - | IntronicSNV | - | 12/24 | 1 |
7-82475786-TTA-T | c.13831+95_13831+96del | - | IntronicDeletion | - | 12/24 | 3 |
7-82475788-TA-T | c.13831+95del | - | IntronicDeletion | - | 12/24 | 1 |
7-82475886-C-T | c.13828G>A | p.A4610T | Missense | 12/25 | - | 1 |
7-82475898-C-T | c.13816G>A | p.E4606K | Missense | 12/25 | - | 1 |
7-82475901-G-A | c.13813C>T | p.H4605Y | Missense | 12/25 | - | 3 |
7-82475904-G-T | c.13810C>A | p.L4604I | Missense | 12/25 | - | 4 |
7-82475906-T-A | c.13808A>T | p.E4603V | Missense | 12/25 | - | 3 |
7-82475907-C-T | c.13807G>A | p.E4603K | Missense | 12/25 | - | 6 |
7-82475909-A-T | c.13805T>A | p.L4602Q | Missense | 12/25 | - | 1 |
7-82475910-G-A | c.13804C>T | p.L4602= | Synonymous | 12/25 | - | 3 |
7-82475909-AGATGCTGG-A | c.13797_13804del | p.Q4600Gfs*4 | Frameshift | 12/25 | - | 1 |
7-82475912-T-C | c.13802A>G | p.H4601R | Missense | 12/25 | - | 1 |
7-82475918-G-A | c.13796C>T | p.S4599F | Missense | 12/25 | - | 7 |
7-82475919-A-C | c.13795T>G | p.S4599A | Missense | 12/25 | - | 1 |
7-82475925-C-T | c.13789G>A | p.E4597K | Missense | 12/25 | - | 2 |
7-82475930-T-C | c.13784A>G | p.D4595G | Missense | 12/25 | - | 1 |
7-82475932-T-A | c.13782A>T | p.S4594= | Synonymous | 12/25 | - | 1 |
7-82475932-T-C | c.13782A>G | p.S4594= | Synonymous | 12/25 | - | 1 |
7-82475932-T-G | c.13782A>C | p.S4594= | Synonymous | 12/25 | - | 1 |
7-82475933-G-A | c.13781C>T | p.S4594L | Missense | 12/25 | - | 2 |
7-82475938-C-A | c.13776G>T | p.M4592I | Missense | 12/25 | - | 2 |
7-82475938-C-G | c.13776G>C | p.M4592I | Missense | 12/25 | - | 2 |
7-82475938-C-T | c.13776G>A | p.M4592I | Missense | 12/25 | - | 3 |
7-82475942-T-C | c.13772A>G | p.N4591S | Missense | 12/25 | - | 1 |
7-82475944-G-C | c.13770C>G | p.L4590= | Synonymous | 12/25 | - | 1 |
7-82475945-A-G | c.13769T>C | p.L4590P | Missense | 12/25 | - | 1 |
7-82475946-G-T | c.13768C>A | p.L4590I | Missense | 12/25 | - | 1 |
7-82475947-G-A | c.13767C>T | p.D4589= | Synonymous | 12/25 | - | 3 |
7-82476451-TCA-T | c.13763+2_13763+3del | - | IntronicDeletion | 11/25 | 11/24 | 1 |
7-82476456-G-A | c.13762C>T | p.L4588= | Synonymous | 11/25 | - | 1 |
7-82476458-C-CT | c.13759dup | p.R4587Kfs*11 | Frameshift | 11/25 | - | 1 |
7-82476475-T-C | c.13743A>G | p.E4581= | Synonymous | 11/25 | - | 2 |
7-82476479-C-A | c.13739G>T | p.G4580V | Missense | 11/25 | - | 3 |
7-82476479-C-G | c.13739G>C | p.G4580A | Missense | 11/25 | - | 1 |
7-82476482-C-A | c.13736G>T | p.S4579I | Missense | 11/25 | - | 3 |
7-82476488-T-A | c.13730A>T | p.Q4577L | Missense | 11/25 | - | 3 |
7-82476490-A-C | c.13728T>G | p.S4576R | Missense | 11/25 | - | 2 |
7-82476490-A-T | c.13728T>A | p.S4576R | Missense | 11/25 | - | 2 |
7-82476492-T-G | c.13726A>C | p.S4576R | Missense | 11/25 | - | 2 |
7-82476491-C-T | c.13727G>A | p.S4576N | Missense | 11/25 | - | 2 |
7-82476497-A-G | c.13721T>C | p.I4574T | Missense | 11/25 | - | 1 |
7-82476502-C-A | c.13716G>T | p.Q4572H | Missense | 11/25 | - | 1 |
7-82476502-C-G | c.13716G>C | p.Q4572H | Missense | 11/25 | - | 1 |
7-82476503-T-C | c.13715A>G | p.Q4572R | Missense | 11/25 | - | 1 |
7-82476511-T-A | c.13707A>T | p.E4569D | Missense | 11/25 | - | 2 |
7-82476511-T-G | c.13707A>C | p.E4569D | Missense | 11/25 | - | 1 |
7-82476512-T-C | c.13706A>G | p.E4569G | Missense | 11/25 | - | 1 |
7-82476513-C-T | c.13705G>A | p.E4569K | Missense | 11/25 | - | 5 |
7-82476515-T-G | c.13703A>C | p.Y4568S | Missense | 11/25 | - | 2 |
7-82476522-T-G | c.13696A>C | p.K4566Q | Missense | 11/25 | - | 1 |
7-82476529-C-T | c.13689G>A | p.L4563= | Synonymous | 11/25 | - | 2 |
7-82476531-A-G | c.13687T>C | p.L4563= | Synonymous | 11/25 | - | 2 |
7-82476532-G-A | c.13686C>T | p.P4562= | Synonymous | 11/25 | - | 1 |
7-82476532-G-T | c.13686C>A | p.P4562= | Synonymous | 11/25 | - | 1 |
7-82476533-G-A | c.13685C>T | p.P4562L | Missense | 11/25 | - | 6 |
7-82476534-G-A | c.13684C>T | p.P4562S | Missense | 11/25 | - | 4 |
7-82476536-A-C | c.13682T>G | p.I4561S | Missense | 11/25 | - | 1 |
7-82476539-C-T | c.13679G>A | p.G4560E | Missense | 11/25 | - | 4 |
7-82476545-C-T | c.13673G>A | p.W4558* | Nonsense | 11/25 | - | 1 |
7-82476546-A-T | c.13672T>A | p.W4558R | Missense | 11/25 | - | 1 |
7-82476549-C-A | c.13669G>T | p.E4557* | Nonsense | 11/25 | - | 1 |
7-82476556-T-A | c.13662A>T | p.Q4554H | Missense | 11/25 | - | 1 |
7-82476556-T-G | c.13662A>C | p.Q4554H | Missense | 11/25 | - | 1 |
7-82476557-T-C | c.13661A>G | p.Q4554R | Missense | 11/25 | - | 1 |
7-82476562-C-T | c.13656G>A | p.G4552= | Synonymous | 11/25 | - | 3 |
7-82478133-C-T | c.13655-1570G>A | - | IntronicSNV | - | 10/24 | 1 |
7-82478190-G-A | c.13655-1627C>T | - | IntronicSNV | - | 10/24 | 1 |
7-82478307-C-T | c.13655-1744G>A | - | IntronicSNV | - | 10/24 | 1 |
7-82478415-T-G | c.13655-1852A>C | - | IntronicSNV | - | 10/24 | 5 |
7-82479082-T-C | c.13655-2519A>G | - | IntronicSNV | - | 10/24 | 1 |
7-82479722-C-A | c.13655-3159G>T | - | IntronicSNV | - | 10/24 | 2 |
7-82482675-T-A | c.13655-6112A>T | - | IntronicSNV | - | 10/24 | 1 |
7-82482675-T-C | c.13655-6112A>G | - | IntronicSNV | - | 10/24 | 1 |
7-82484743-G-A | c.13655-8180C>T | - | IntronicSNV | - | 10/24 | 1 |
7-82486467-C-G | c.13655-9904G>C | - | IntronicSNV | - | 10/24 | 1 |
7-82486615-A-G | c.13655-10052T>C | - | IntronicSNV | - | 10/24 | 1 |
7-82488512-A-G | c.13655-11949T>C | - | IntronicSNV | - | 10/24 | 1 |
7-82497207-C-T | c.13654+11446G>A | - | IntronicSNV | - | 10/24 | 1 |
7-82497343-T-A | c.13654+11310A>T | - | IntronicSNV | - | 10/24 | 3 |
7-82497480-T-G | c.13654+11173A>C | - | IntronicSNV | - | 10/24 | 1 |
7-82497831-C-T | c.13654+10822G>A | - | IntronicSNV | - | 10/24 | 2 |
7-82501182-TA-T | c.13654+7470del | - | IntronicDeletion | - | 10/24 | 1 |
7-82501290-T-A | c.13654+7363A>T | - | IntronicSNV | - | 10/24 | 1 |
7-82501290-T-G | c.13654+7363A>C | - | IntronicSNV | - | 10/24 | 1 |
7-82502853-T-G | c.13654+5800A>C | - | IntronicSNV | - | 10/24 | 1 |
7-82503409-C-T | c.13654+5244G>A | - | IntronicSNV | - | 10/24 | 1 |
7-82503442-T-A | c.13654+5211A>T | - | IntronicSNV | - | 10/24 | 1 |
7-82503442-T-C | c.13654+5211A>G | - | IntronicSNV | - | 10/24 | 1 |
7-82504270-C-A | c.13654+4383G>T | - | IntronicSNV | - | 10/24 | 1 |
7-82506850-G-A | c.13654+1803C>T | - | IntronicSNV | - | 10/24 | 1 |
7-82506874-G-A | c.13654+1779C>T | - | IntronicSNV | - | 10/24 | 1 |
7-82508502-C-T | c.13654+151G>A | - | IntronicSNV | - | 10/24 | 1 |
7-82508649-T-C | c.13654+4A>G | - | IntronicSNV | - | 10/24 | 1 |
7-82508656-C-T | c.13651G>A | p.E4551K | Missense | 10/25 | - | 2 |
7-82508658-A-G | c.13649T>C | p.M4550T | Missense | 10/25 | - | 2 |
7-82508666-C-T | c.13641G>A | p.G4547= | Synonymous | 10/25 | - | 2 |
7-82508667-C-T | c.13640G>A | p.G4547E | Missense | 10/25 | - | 3 |
7-82508668-C-A | c.13639G>T | p.G4547W | Missense | 10/25 | - | 1 |
7-82508670-G-A | c.13637C>T | p.T4546M | Missense | 10/25 | - | 6 |
7-82508678-C-A | c.13629G>T | p.A4543= | Synonymous | 10/25 | - | 1 |
7-82508678-C-G | c.13629G>C | p.A4543= | Synonymous | 10/25 | - | 1 |
7-82508678-C-T | c.13629G>A | p.A4543= | Synonymous | 10/25 | - | 3 |
7-82508679-G-C | c.13628C>G | p.A4543G | Missense | 10/25 | - | 1 |
7-82508685-C-G | c.13622G>C | p.G4541A | Missense | 10/25 | - | 1 |
7-82508685-C-T | c.13622G>A | p.G4541E | Missense | 10/25 | - | 3 |
7-82508686-C-T | c.13621G>A | p.G4541R | Missense | 10/25 | - | 4 |
7-82508689-C-T | c.13618G>A | p.G4540R | Missense | 10/25 | - | 1 |
7-82508692-G-A | c.13615C>T | p.P4539S | Missense | 10/25 | - | 1 |
7-82508695-G-A | c.13612C>T | p.L4538F | Missense | 10/25 | - | 2 |
7-82508699-C-A | c.13608G>T | p.K4536N | Missense | 10/25 | - | 1 |
7-82508699-C-G | c.13608G>C | p.K4536N | Missense | 10/25 | - | 1 |
7-82508700-T-A | c.13607A>T | p.K4536M | Missense | 10/25 | - | 1 |
7-82508700-T-C | c.13607A>G | p.K4536R | Missense | 10/25 | - | 1 |
7-82508712-G-C | c.13595C>G | p.A4532G | Missense | 10/25 | - | 1 |
7-82508713-C-G | c.13594G>C | p.A4532P | Missense | 10/25 | - | 1 |
7-82508717-A-G | c.13590T>C | p.I4530= | Synonymous | 10/25 | - | 2 |
7-82508717-A-T | c.13590T>A | p.I4530= | Synonymous | 10/25 | - | 1 |
7-82508722-C-A | c.13585G>T | p.E4529* | Nonsense | 10/25 | - | 1 |
7-82508722-C-T | c.13585G>A | p.E4529K | Missense | 10/25 | - | 5 |
7-82508724-C-T | c.13583G>A | p.G4528E | Missense | 10/25 | - | 4 |
7-82508725-C-T | c.13582G>A | p.G4528R | Missense | 10/25 | - | 1 |
7-82508726-A-C | c.13581T>G | p.S4527R | Missense | 10/25 | - | 2 |
7-82508727-C-A | c.13580G>T | p.S4527I | Missense | 10/25 | - | 1 |
7-82508730-T-A | c.13577A>T | p.H4526L | Missense | 10/25 | - | 1 |
7-82508733-C-T | c.13574G>A | p.G4525E | Missense | 10/25 | - | 1 |
7-82508734-C-G | c.13573G>C | p.G4525R | Missense | 10/25 | - | 2 |
7-82508734-C-T | c.13573G>A | p.G4525R | Missense | 10/25 | - | 4 |
7-82508735-C-A | c.13572G>T | p.P4524= | Synonymous | 10/25 | - | 2 |
7-82508735-C-G | c.13572G>C | p.P4524= | Synonymous | 10/25 | - | 1 |
7-82508735-C-T | c.13572G>A | p.P4524= | Synonymous | 10/25 | - | 1 |
7-82508736-G-A | c.13571C>T | p.P4524L | Missense | 10/25 | - | 6 |
7-82508736-G-C | c.13571C>G | p.P4524R | Missense | 10/25 | - | 1 |
7-82508737-G-A | c.13570C>T | p.P4524S | Missense | 10/25 | - | 2 |
7-82508738-G-A | c.13569C>T | p.I4523= | Synonymous | 10/25 | - | 2 |
7-82508738-G-T | c.13569C>A | p.I4523= | Synonymous | 10/25 | - | 1 |
7-82508740-T-G | c.13567A>C | p.I4523L | Missense | 10/25 | - | 1 |
7-82508742-T-A | c.13565A>T | p.E4522V | Missense | 10/25 | - | 2 |
7-82508743-C-G | c.13564G>C | p.E4522Q | Missense | 10/25 | - | 1 |
7-82508743-C-T | c.13564G>A | p.E4522K | Missense | 10/25 | - | 4 |
7-82508748-C-A | c.13559G>T | p.G4520V | Missense | 10/25 | - | 4 |
7-82508752-C-A | c.13555G>T | p.G4519C | Missense | 10/25 | - | 1 |
7-82508759-T-C | c.13548A>G | p.R4516= | Synonymous | 10/25 | - | 2 |
7-82508761-T-G | c.13546A>C | p.R4516= | Synonymous | 10/25 | - | 3 |
7-82508762-A-G | c.13545T>C | p.I4515= | Synonymous | 10/25 | - | 1 |
7-82508762-A-T | c.13545T>A | p.I4515= | Synonymous | 10/25 | - | 1 |
7-82508766-C-T | c.13541G>A | p.G4514E | Missense | 10/25 | - | 2 |
7-82508767-C-T | c.13540G>A | p.G4514R | Missense | 10/25 | - | 1 |
7-82508768-T-A | c.13539A>T | p.L4513F | Missense | 10/25 | - | 1 |
7-82508768-T-G | c.13539A>C | p.L4513F | Missense | 10/25 | - | 1 |
7-82508772-C-T | c.13535G>A | p.G4512E | Missense | 10/25 | - | 1 |
7-82508774-A-C | c.13533T>G | p.N4511K | Missense | 10/25 | - | 1 |
7-82508938-T-C | c.13529-160A>G | - | IntronicSNV | - | 9/24 | 3 |
7-82508939-G-A | c.13529-161C>T | - | IntronicSNV | - | 9/24 | 1 |
7-82509163-T-C | c.13529-385A>G | - | IntronicSNV | - | 9/24 | 1 |
7-82509435-T-A | c.13529-657A>T | - | IntronicSNV | - | 9/24 | 1 |
7-82509435-T-C | c.13529-657A>G | - | IntronicSNV | - | 9/24 | 1 |
7-82514089-C-T | c.13529-5311G>A | - | IntronicSNV | - | 9/24 | 1 |
7-82514138-T-C | c.13529-5360A>G | - | IntronicSNV | - | 9/24 | 1 |
7-82515942-C-T | c.13529-7164G>A | - | IntronicSNV | - | 9/24 | 1 |
7-82516893-T-C | c.13529-8115A>G | - | IntronicSNV | - | 9/24 | 1 |
7-82516932-T-C | c.13529-8154A>G | - | IntronicSNV | - | 9/24 | 1 |
7-82516994-T-C | c.13529-8216A>G | - | IntronicSNV | - | 9/24 | 1 |
7-82523322-TA-T | c.13528+8644del | - | IntronicDeletion | - | 9/24 | 1 |
7-82526337-GA-G | c.13528+5629del | - | IntronicDeletion | - | 9/24 | 1 |
7-82526417-T-C | c.13528+5550A>G | - | IntronicSNV | - | 9/24 | 1 |
7-82531852-A-C | c.13528+115T>G | - | IntronicSNV | - | 9/24 | 1 |
7-82531875-TAA-T | c.13528+90_13528+91del | - | IntronicDeletion | - | 9/24 | 1 |
7-82531904-GCAAAA-G | c.13528+58_13528+62del | - | IntronicDeletion | - | 9/24 | 1 |
7-82531961-C-A | c.13528+6G>T | - | IntronicSNV | - | 9/24 | 1 |
7-82531969-G-A | c.13526C>T | p.S4509L | Missense | 9/25 | - | 4 |
7-82531973-C-T | c.13522G>A | p.V4508I | Missense | 9/25 | - | 2 |
7-82531976-T-A | c.13519A>T | p.T4507S | Missense | 9/25 | - | 1 |
7-82531978-T-C | c.13517A>G | p.H4506R | Missense | 9/25 | - | 1 |
7-82531979-G-A | c.13516C>T | p.H4506Y | Missense | 9/25 | - | 4 |
7-82531981-T-G | c.13514A>C | p.D4505A | Missense | 9/25 | - | 1 |
7-82531982-C-T | c.13513G>A | p.D4505N | Missense | 9/25 | - | 1 |
7-82531983-C-T | c.13512G>A | p.K4504= | Synonymous | 9/25 | - | 2 |
7-82531987-G-A | c.13508C>T | p.S4503L | Missense | 9/25 | - | 4 |
7-82531993-C-T | c.13502G>A | p.R4501K | Missense | 9/25 | - | 1 |
7-82531996-G-A | c.13499C>T | p.T4500I | Missense | 9/25 | - | 1 |
7-82531997-T-C | c.13498A>G | p.T4500A | Missense | 9/25 | - | 1 |
7-82532000-T-C | c.13495A>G | p.I4499V | Missense | 9/25 | - | 4 |
7-82532002-T-A | c.13493A>T | p.K4498I | Missense | 9/25 | - | 2 |
7-82532004-T-C | c.13491A>G | p.I4497M | Missense | 9/25 | - | 1 |
7-82532007-C-A | c.13488G>T | p.R4496S | Missense | 9/25 | - | 4 |
7-82532007-C-G | c.13488G>C | p.R4496S | Missense | 9/25 | - | 2 |
7-82532007-C-T | c.13488G>A | p.R4496= | Synonymous | 9/25 | - | 1 |
7-82532009-T-A | c.13486A>T | p.R4496W | Missense | 9/25 | - | 1 |
7-82532012-C-G | c.13483G>C | p.A4495P | Missense | 9/25 | - | 1 |
7-82532012-C-T | c.13483G>A | p.A4495T | Missense | 9/25 | - | 1 |
7-82532013-G-A | c.13482C>T | p.H4494= | Synonymous | 9/25 | - | 2 |
7-82532014-T-C | c.13481A>G | p.H4494R | Missense | 9/25 | - | 2 |
7-82532015-G-A | c.13480C>T | p.H4494Y | Missense | 9/25 | - | 2 |
7-82532016-A-C | c.13479T>G | p.P4493= | Synonymous | 9/25 | - | 1 |
7-82532016-A-G | c.13479T>C | p.P4493= | Synonymous | 9/25 | - | 3 |
7-82532016-A-T | c.13479T>A | p.P4493= | Synonymous | 9/25 | - | 1 |
7-82532018-G-A | c.13477C>T | p.P4493S | Missense | 9/25 | - | 3 |
7-82532025-G-A | c.13470C>T | p.Y4490= | Synonymous | 9/25 | - | 1 |
7-82532026-T-C | c.13469A>G | p.Y4490C | Missense | 9/25 | - | 1 |
7-82532040-C-G | c.13455G>C | p.G4485= | Synonymous | 9/25 | - | 1 |
7-82532040-C-T | c.13455G>A | p.G4485= | Synonymous | 9/25 | - | 4 |
7-82532042-C-A | c.13453G>T | p.G4485W | Missense | 9/25 | - | 1 |
7-82532046-C-T | c.13449G>A | p.M4483I | Missense | 9/25 | - | 1 |
7-82532051-G-A | c.13444C>T | p.Q4482* | Nonsense | 9/25 | - | 1 |
7-82532054-T-C | c.13441A>G | p.I4481V | Missense | 9/25 | - | 1 |
7-82532056-A-T | c.13439T>A | p.I4480N | Missense | 9/25 | - | 4 |
7-82532057-T-C | c.13438A>G | p.I4480V | Missense | 9/25 | - | 1 |
7-82536512-G-A | c.13437+1681C>T | - | IntronicSNV | - | 8/24 | 1 |
7-82538190-T-A | c.13437+3A>T | - | IntronicSNV | - | 8/24 | 1 |
7-82538196-C-T | c.13434G>A | p.E4478= | Synonymous | 8/25 | - | 1 |
7-82538199-T-C | c.13431A>G | p.Q4477= | Synonymous | 8/25 | - | 1 |
7-82538202-A-G | c.13428T>C | p.H4476= | Synonymous | 8/25 | - | 1 |
7-82538208-A-G | c.13422T>C | p.S4474= | Synonymous | 8/25 | - | 1 |
7-82538209-C-A | c.13421G>T | p.S4474I | Missense | 8/25 | - | 1 |
7-82538210-T-C | c.13420A>G | p.S4474G | Missense | 8/25 | - | 1 |
7-82538211-G-A | c.13419C>T | p.L4473= | Synonymous | 8/25 | - | 1 |
7-82538211-G-C | c.13419C>G | p.L4473= | Synonymous | 8/25 | - | 1 |
7-82538211-G-T | c.13419C>A | p.L4473= | Synonymous | 8/25 | - | 1 |
7-82538215-G-A | c.13415C>T | p.P4472L | Missense | 8/25 | - | 1 |
7-82538215-G-T | c.13415C>A | p.P4472Q | Missense | 8/25 | - | 1 |
7-82538216-G-C | c.13414C>G | p.P4472A | Missense | 8/25 | - | 1 |
7-82538217-T-A | c.13413A>T | p.R4471S | Missense | 8/25 | - | 1 |
7-82538221-G-A | c.13409C>T | p.S4470F | Missense | 8/25 | - | 2 |
7-82538222-A-G | c.13408T>C | p.S4470P | Missense | 8/25 | - | 3 |
7-82538224-T-G | c.13406A>C | p.H4469P | Missense | 8/25 | - | 1 |
7-82538225-G-C | c.13405C>G | p.H4469D | Missense | 8/25 | - | 1 |
7-82538228-C-A | c.13402G>T | p.V4468F | Missense | 8/25 | - | 3 |
7-82538228-C-G | c.13402G>C | p.V4468L | Missense | 8/25 | - | 4 |
7-82538229-C-A | c.13401G>T | p.L4467F | Missense | 8/25 | - | 1 |
7-82538229-C-G | c.13401G>C | p.L4467F | Missense | 8/25 | - | 1 |
7-82538230-A-G | c.13400T>C | p.L4467S | Missense | 8/25 | - | 2 |
7-82538232-T-C | c.13398A>G | p.R4466= | Synonymous | 8/25 | - | 2 |
7-82538234-T-G | c.13396A>C | p.R4466= | Synonymous | 8/25 | - | 2 |
7-82538233-C-G | c.13397G>C | p.R4466T | Missense | 8/25 | - | 1 |
7-82538233-C-T | c.13397G>A | p.R4466K | Missense | 8/25 | - | 5 |
7-82538235-T-A | c.13395A>T | p.E4465D | Missense | 8/25 | - | 2 |
7-82538237-C-T | c.13393G>A | p.E4465K | Missense | 8/25 | - | 2 |
7-82538238-C-A | c.13392G>T | p.P4464= | Synonymous | 8/25 | - | 1 |
7-82538238-C-G | c.13392G>C | p.P4464= | Synonymous | 8/25 | - | 4 |
7-82538238-C-T | c.13392G>A | p.P4464= | Synonymous | 8/25 | - | 2 |
7-82538239-G-A | c.13391C>T | p.P4464L | Missense | 8/25 | - | 1 |
7-82538240-G-A | c.13390C>T | p.P4464S | Missense | 8/25 | - | 3 |
7-82538245-T-C | c.13385A>G | p.K4462R | Missense | 8/25 | - | 4 |
7-82538248-C-T | c.13382G>A | p.R4461Q | Missense | 8/25 | - | 16 |
7-82538247-T-A | c.13383A>T | p.R4461= | Synonymous | 8/25 | - | 2 |
7-82538247-T-C | c.13383A>G | p.R4461= | Synonymous | 8/25 | - | 2 |
7-82538247-T-G | c.13383A>C | p.R4461= | Synonymous | 8/25 | - | 2 |
7-82538249-G-A | c.13381C>T | p.R4461* | Nonsense | 8/25 | - | 1 |
7-82538249-G-T | c.13381C>A | p.R4461= | Synonymous | 8/25 | - | 2 |
7-82538250-G-A | c.13380C>T | p.D4460= | Synonymous | 8/25 | - | 2 |
7-82538250-G-C | c.13380C>G | p.D4460E | Missense | 8/25 | - | 1 |
7-82538250-G-T | c.13380C>A | p.D4460E | Missense | 8/25 | - | 1 |
7-82538253-C-T | c.13377G>A | p.L4459= | Synonymous | 8/25 | - | 3 |
7-82538256-A-C | c.13374T>G | p.G4458= | Synonymous | 8/25 | - | 1 |
7-82538256-A-G | c.13374T>C | p.G4458= | Synonymous | 8/25 | - | 1 |
7-82538256-A-T | c.13374T>A | p.G4458= | Synonymous | 8/25 | - | 1 |
7-82538257-C-T | c.13373G>A | p.G4458D | Missense | 8/25 | - | 1 |
7-82538258-C-A | c.13372G>T | p.G4458C | Missense | 8/25 | - | 1 |
7-82538263-C-T | c.13367G>A | p.G4456E | Missense | 8/25 | - | 2 |
7-82538270-C-T | c.13360G>A | p.E4454K | Missense | 8/25 | - | 5 |
7-82538271-C-A | c.13359G>T | p.L4453F | Missense | 8/25 | - | 5 |
7-82538271-C-G | c.13359G>C | p.L4453F | Missense | 8/25 | - | 3 |
7-82538271-C-T | c.13359G>A | p.L4453= | Synonymous | 8/25 | - | 1 |
7-82538273-A-G | c.13357T>C | p.L4453= | Synonymous | 8/25 | - | 1 |
7-82538275-C-T | c.13355G>A | p.R4452H | Missense | 8/25 | - | 1 |
7-82538276-G-A | c.13354C>T | p.R4452C | Missense | 8/25 | - | 6 |
7-82538278-G-A | c.13352C>T | p.S4451F | Missense | 8/25 | - | 4 |
7-82538279-A-T | c.13351T>A | p.S4451T | Missense | 8/25 | - | 1 |
7-82538280-C-T | c.13350G>A | p.E4450= | Synonymous | 8/25 | - | 1 |
7-82538283-C-T | c.13347G>A | p.R4449= | Synonymous | 8/25 | - | 2 |
7-82538284-C-A | c.13346G>T | p.R4449M | Missense | 8/25 | - | 1 |
7-82538284-C-G | c.13346G>C | p.R4449T | Missense | 8/25 | - | 4 |
7-82538284-C-T | c.13346G>A | p.R4449K | Missense | 8/25 | - | 1 |
7-82538290-T-C | c.13340A>G | p.K4447R | Missense | 8/25 | - | 1 |
7-82538293-T-C | c.13337A>G | p.D4446G | Missense | 8/25 | - | 1 |
7-82538294-C-T | c.13336G>A | p.D4446N | Missense | 8/25 | - | 1 |
7-82538297-A-C | c.13333T>G | p.F4445V | Missense | 8/25 | - | 1 |
7-82538298-C-T | c.13332G>A | p.W4444* | Nonsense | 8/25 | - | 1 |
7-82538299-C-G | c.13331G>C | p.W4444S | Missense | 8/25 | - | 1 |
7-82538303-C-T | c.13327G>A | p.D4443N | Missense | 8/25 | - | 5 |
7-82538305-G-A | c.13325C>T | p.T4442I | Missense | 8/25 | - | 1 |
7-82538306-T-A | c.13324A>T | p.T4442S | Missense | 8/25 | - | 1 |
7-82538309-C-T | c.13321G>A | p.E4441K | Missense | 8/25 | - | 1 |
7-82538312-C-A | c.13318G>T | p.E4440* | Nonsense | 8/25 | - | 1 |
7-82538313-A-C | c.13317T>G | p.R4439= | Synonymous | 8/25 | - | 1 |
7-82538313-A-G | c.13317T>C | p.R4439= | Synonymous | 8/25 | - | 1 |
7-82538313-A-T | c.13317T>A | p.R4439= | Synonymous | 8/25 | - | 1 |
7-82538314-C-A | c.13316G>T | p.R4439L | Missense | 8/25 | - | 1 |
7-82538314-C-T | c.13316G>A | p.R4439H | Missense | 8/25 | - | 8 |
7-82538315-G-A | c.13315C>T | p.R4439C | Missense | 8/25 | - | 2 |
7-82538317-C-T | c.13313G>A | p.R4438H | Missense | 8/25 | - | 3 |
7-82538318-G-A | c.13312C>T | p.R4438C | Missense | 8/25 | - | 2 |
7-82538321-G-A | c.13309C>T | p.L4437= | Synonymous | 8/25 | - | 4 |
7-82538322-A-T | c.13308T>A | p.H4436Q | Missense | 8/25 | - | 1 |
7-82538323-T-C | c.13307A>G | p.H4436R | Missense | 8/25 | - | 3 |
7-82538327-A-G | c.13303T>C | p.Y4435H | Missense | 8/25 | - | 1 |
7-82538424-T-G | c.13301-95A>C | - | IntronicSNV | - | 7/24 | 2 |
7-82538636-A-G | c.13301-307T>C | - | IntronicSNV | - | 7/24 | 1 |
7-82541724-AT-A | c.13300+2277del | - | IntronicDeletion | - | 7/24 | 1 |
7-82542838-AC-A | c.13300+1164del | - | IntronicDeletion | - | 7/24 | 1 |
7-82542869-GA-G | c.13300+1132del | - | IntronicDeletion | - | 7/24 | 1 |
7-82543959-T-C | c.13300+43A>G | - | IntronicSNV | - | 7/24 | 1 |
7-82543966-T-A | c.13300+36A>T | - | IntronicSNV | - | 7/24 | 1 |
7-82543977-C-G | c.13300+25G>C | - | IntronicSNV | - | 7/24 | 1 |
7-82543986-T-A | c.13300+16A>T | - | IntronicSNV | - | 7/24 | 2 |
7-82543986-T-C | c.13300+16A>G | - | IntronicSNV | - | 7/24 | 2 |
7-82543986-T-G | c.13300+16A>C | - | IntronicSNV | - | 7/24 | 2 |
7-82544005-C-G | c.13297G>C | p.E4433Q | Missense | 7/25 | - | 2 |
7-82544011-C-G | c.13291G>C | p.D4431H | Missense | 7/25 | - | 7 |
7-82544018-G-A | c.13284C>T | p.A4428= | Synonymous | 7/25 | - | 1 |
7-82544019-G-A | c.13283C>T | p.A4428V | Missense | 7/25 | - | 4 |
7-82544020-C-A | c.13282G>T | p.A4428S | Missense | 7/25 | - | 4 |
7-82544026-G-A | c.13276C>T | p.Q4426* | Nonsense | 7/25 | - | 1 |
7-82544027-G-A | c.13275C>T | p.F4425= | Synonymous | 7/25 | - | 4 |
7-82544034-T-G | c.13268A>C | p.D4423A | Missense | 7/25 | - | 1 |
7-82544035-C-T | c.13267G>A | p.D4423N | Missense | 7/25 | - | 2 |
7-82544039-G-A | c.13263C>T | p.I4421= | Synonymous | 7/25 | - | 1 |
7-82544039-G-T | c.13263C>A | p.I4421= | Synonymous | 7/25 | - | 1 |
7-82544043-A-C | c.13259T>G | p.F4420C | Missense | 7/25 | - | 2 |
7-82544042-G-C | c.13260C>G | p.F4420L | Missense | 7/25 | - | 1 |
7-82544042-G-T | c.13260C>A | p.F4420L | Missense | 7/25 | - | 1 |
7-82544044-A-G | c.13258T>C | p.F4420L | Missense | 7/25 | - | 1 |
7-82544047-C-T | c.13255G>A | p.A4419T | Missense | 7/25 | - | 2 |
7-82544050-T-C | c.13252A>G | p.I4418V | Missense | 7/25 | - | 1 |
7-82544052-T-C | c.13250A>G | p.D4417G | Missense | 7/25 | - | 1 |
7-82544055-C-A | c.13247G>T | p.R4416L | Missense | 7/25 | - | 1 |
7-82544055-C-T | c.13247G>A | p.R4416H | Missense | 7/25 | - | 1 |
7-82544056-G-A | c.13246C>T | p.R4416C | Missense | 7/25 | - | 2 |
7-82544057-G-A | c.13245C>T | p.D4415= | Synonymous | 7/25 | - | 3 |
7-82544057-G-T | c.13245C>A | p.D4415E | Missense | 7/25 | - | 1 |
7-82544059-C-A | c.13243G>T | p.D4415Y | Missense | 7/25 | - | 2 |
7-82544059-C-T | c.13243G>A | p.D4415N | Missense | 7/25 | - | 1 |
7-82544063-G-A | c.13239C>T | p.G4413= | Synonymous | 7/25 | - | 1 |
7-82544063-G-C | c.13239C>G | p.G4413= | Synonymous | 7/25 | - | 1 |
7-82544063-G-T | c.13239C>A | p.G4413= | Synonymous | 7/25 | - | 1 |
7-82544067-C-T | c.13235G>A | p.R4412Q | Missense | 7/25 | - | 2 |
7-82544068-G-A | c.13234C>T | p.R4412* | Nonsense | 7/25 | - | 2 |
7-82544071-T-C | c.13231A>G | p.T4411A | Missense | 7/25 | - | 3 |
7-82544073-C-A | c.13229G>T | p.R4410L | Missense | 7/25 | - | 2 |
7-82544073-C-T | c.13229G>A | p.R4410Q | Missense | 7/25 | - | 1 |
7-82544074-G-A | c.13228C>T | p.R4410W | Missense | 7/25 | - | 1 |
7-82544076-G-C | c.13226C>G | p.S4409* | Nonsense | 7/25 | - | 1 |
7-82544076-G-T | c.13226C>A | p.S4409* | Nonsense | 7/25 | - | 1 |
7-82544080-C-A | c.13222G>T | p.E4408* | Nonsense | 7/25 | - | 1 |
7-82544080-C-G | c.13222G>C | p.E4408Q | Missense | 7/25 | - | 1 |
7-82544081-T-A | c.13221A>T | p.E4407D | Missense | 7/25 | - | 1 |
7-82544081-T-G | c.13221A>C | p.E4407D | Missense | 7/25 | - | 1 |
7-82544083-C-T | c.13219G>A | p.E4407K | Missense | 7/25 | - | 5 |
7-82544084-C-A | c.13218G>T | p.R4406S | Missense | 7/25 | - | 1 |
7-82544084-C-G | c.13218G>C | p.R4406S | Missense | 7/25 | - | 1 |
7-82544087-C-A | c.13215G>T | p.M4405I | Missense | 7/25 | - | 1 |
7-82544087-C-G | c.13215G>C | p.M4405I | Missense | 7/25 | - | 1 |
7-82544087-C-T | c.13215G>A | p.M4405I | Missense | 7/25 | - | 1 |
7-82544088-A-G | c.13214T>C | p.M4405T | Missense | 7/25 | - | 1 |
7-82544089-T-A | c.13213A>T | p.M4405L | Missense | 7/25 | - | 2 |
7-82544089-T-C | c.13213A>G | p.M4405V | Missense | 7/25 | - | 1 |
7-82544089-T-G | c.13213A>C | p.M4405L | Missense | 7/25 | - | 2 |
7-82544094-T-G | c.13208A>C | p.Q4403P | Missense | 7/25 | - | 1 |
7-82544095-G-T | c.13207C>A | p.Q4403K | Missense | 7/25 | - | 1 |
7-82544106-G-A | c.13196C>T | p.P4399L | Missense | 7/25 | - | 1 |
7-82544107-G-A | c.13195C>T | p.P4399S | Missense | 7/25 | - | 4 |
7-82544111-T-A | c.13191A>T | p.S4397= | Synonymous | 7/25 | - | 1 |
7-82544111-T-C | c.13191A>G | p.S4397= | Synonymous | 7/25 | - | 1 |
7-82544111-T-G | c.13191A>C | p.S4397= | Synonymous | 7/25 | - | 1 |
7-82544117-G-A | c.13185C>T | p.S4395= | Synonymous | 7/25 | - | 1 |
7-82544118-C-T | c.13184G>A | p.S4395N | Missense | 7/25 | - | 1 |
7-82544121-G-A | c.13181C>T | p.S4394L | Missense | 7/25 | - | 2 |
7-82544124-C-T | c.13178G>A | p.G4393E | Missense | 7/25 | - | 7 |
7-82544134-C-T | c.13168G>A | p.D4390N | Missense | 7/25 | - | 5 |
7-82544135-C-A | c.13167G>T | p.R4389S | Missense | 7/25 | - | 2 |
7-82544135-C-G | c.13167G>C | p.R4389S | Missense | 7/25 | - | 1 |
7-82544135-C-T | c.13167G>A | p.R4389= | Synonymous | 7/25 | - | 4 |
7-82544136-C-A | c.13166G>T | p.R4389M | Missense | 7/25 | - | 2 |
7-82544143-C-G | c.13159G>C | p.D4387H | Missense | 7/25 | - | 1 |
7-82544154-G-A | c.13148C>T | p.P4383L | Missense | 7/25 | - | 2 |
7-82544157-G-A | c.13145C>T | p.P4382L | Missense | 7/25 | - | 2 |
7-82544161-G-T | c.13141C>A | p.L4381M | Missense | 7/25 | - | 1 |
7-82544166-C-A | c.13136G>T | p.G4379V | Missense | 7/25 | - | 2 |
7-82544167-C-T | c.13135G>A | p.G4379R | Missense | 7/25 | - | 1 |
7-82544169-G-T | c.13133C>A | p.A4378D | Missense | 7/25 | - | 1 |
7-82544170-C-A | c.13132G>T | p.A4378S | Missense | 7/25 | - | 5 |
7-82544170-C-T | c.13132G>A | p.A4378T | Missense | 7/25 | - | 1 |
7-82544172-G-T | c.13130C>A | p.A4377E | Missense | 7/25 | - | 1 |
7-82544173-C-T | c.13129G>A | p.A4377T | Missense | 7/25 | - | 7 |
7-82544175-G-A | c.13127C>T | p.A4376V | Missense | 7/25 | - | 1 |
7-82544178-CT-TG | c.13123_13124delinsCA | p.R4375Q | Missense | 7/25 | - | 1 |
7-82544181-G-A | c.13121C>T | p.A4374V | Missense | 7/25 | - | 2 |
7-82544182-C-T | c.13120G>A | p.A4374T | Missense | 7/25 | - | 1 |
7-82544184-A-G | c.13118T>C | p.M4373T | Missense | 7/25 | - | 1 |
7-82544186-TCC-GCT | c.13114_13116delinsAGC | p.G4372S | Missense | 7/25 | - | 1 |
7-82544188-C-T | c.13114G>A | p.G4372R | Missense | 7/25 | - | 1 |
7-82544189-C-A | c.13113G>T | p.M4371I | Missense | 7/25 | - | 2 |
7-82544189-C-G | c.13113G>C | p.M4371I | Missense | 7/25 | - | 2 |
7-82544189-C-T | c.13113G>A | p.M4371I | Missense | 7/25 | - | 3 |
7-82544191-T-A | c.13111A>T | p.M4371L | Missense | 7/25 | - | 3 |
7-82544191-T-C | c.13111A>G | p.M4371V | Missense | 7/25 | - | 2 |
7-82544191-T-G | c.13111A>C | p.M4371L | Missense | 7/25 | - | 2 |
7-82544198-G-A | c.13104C>T | p.G4368= | Synonymous | 7/25 | - | 4 |
7-82544198-G-C | c.13104C>G | p.G4368= | Synonymous | 7/25 | - | 2 |
7-82544198-G-T | c.13104C>A | p.G4368= | Synonymous | 7/25 | - | 3 |
7-82544199-C-A | c.13103G>T | p.G4368V | Missense | 7/25 | - | 1 |
7-82544200-C-T | c.13102G>A | p.G4368S | Missense | 7/25 | - | 2 |
7-82544203-C-A | c.13099G>T | p.V4367F | Missense | 7/25 | - | 3 |
7-82544205-G-A | c.13097C>T | p.P4366L | Missense | 7/25 | - | 2 |
7-82544206-G-A | c.13096C>T | p.P4366S | Missense | 7/25 | - | 2 |
7-82544212-G-A | c.13090C>T | p.L4364F | Missense | 7/25 | - | 1 |
7-82544214-G-A | c.13088C>T | p.P4363L | Missense | 7/25 | - | 2 |
7-82544221-C-T | c.13081G>A | p.E4361K | Missense | 7/25 | - | 5 |
7-82544225-T-G | c.13077A>C | p.E4359D | Missense | 7/25 | - | 1 |
7-82544227-C-T | c.13075G>A | p.E4359K | Missense | 7/25 | - | 5 |
7-82544228-A-T | c.13074T>A | p.S4358= | Synonymous | 7/25 | - | 1 |
7-82544229-G-C | c.13073C>G | p.S4358C | Missense | 7/25 | - | 1 |
7-82544229-G-T | c.13073C>A | p.S4358Y | Missense | 7/25 | - | 1 |
7-82544230-A-C | c.13072T>G | p.S4358A | Missense | 7/25 | - | 2 |
7-82544234-C-A | c.13068G>T | p.Q4356H | Missense | 7/25 | - | 1 |
7-82544234-C-G | c.13068G>C | p.Q4356H | Missense | 7/25 | - | 1 |
7-82544234-C-T | c.13068G>A | p.Q4356= | Synonymous | 7/25 | - | 2 |
7-82544239-C-T | c.13063G>A | p.A4355T | Missense | 7/25 | - | 2 |
7-82544242-C-A | c.13060G>T | p.V4354L | Missense | 7/25 | - | 2 |
7-82544242-C-G | c.13060G>C | p.V4354L | Missense | 7/25 | - | 1 |
7-82544248-G-A | c.13054C>T | p.P4352S | Missense | 7/25 | - | 2 |
7-82544248-G-T | c.13054C>A | p.P4352T | Missense | 7/25 | - | 1 |
7-82544253-C-A | c.13049G>T | p.R4350I | Missense | 7/25 | - | 3 |
7-82544256-C-T | c.13046G>A | p.G4349E | Missense | 7/25 | - | 2 |
7-82544259-C-T | c.13043G>A | p.R4348K | Missense | 7/25 | - | 1 |
7-82544261-A-G | c.13041T>C | p.S4347= | Synonymous | 7/25 | - | 1 |
7-82544262-C-T | c.13040G>A | p.S4347N | Missense | 7/25 | - | 1 |
7-82544263-T-C | c.13039A>G | p.S4347G | Missense | 7/25 | - | 1 |
7-82544266-G-T | c.13036C>A | p.Q4346K | Missense | 7/25 | - | 2 |
7-82544268-C-T | c.13034G>A | p.S4345N | Missense | 7/25 | - | 1 |
7-82544276-C-G | c.13026G>C | p.L4342F | Missense | 7/25 | - | 1 |
7-82544282-G-A | c.13020C>T | p.T4340= | Synonymous | 7/25 | - | 2 |
7-82544282-G-C | c.13020C>G | p.T4340= | Synonymous | 7/25 | - | 1 |
7-82544282-G-T | c.13020C>A | p.T4340= | Synonymous | 7/25 | - | 1 |
7-82544283-G-A | c.13019C>T | p.T4340I | Missense | 7/25 | - | 4 |
7-82544283-G-C | c.13019C>G | p.T4340S | Missense | 7/25 | - | 2 |
7-82544283-G-T | c.13019C>A | p.T4340N | Missense | 7/25 | - | 1 |
7-82544284-T-A | c.13018A>T | p.T4340S | Missense | 7/25 | - | 1 |
7-82544285-C-A | c.13017G>T | p.P4339= | Synonymous | 7/25 | - | 1 |
7-82544285-C-G | c.13017G>C | p.P4339= | Synonymous | 7/25 | - | 1 |
7-82544285-C-T | c.13017G>A | p.P4339= | Synonymous | 7/25 | - | 1 |
7-82544286-G-A | c.13016C>T | p.P4339L | Missense | 7/25 | - | 1 |
7-82544288-C-A | c.13014G>T | p.K4338N | Missense | 7/25 | - | 1 |
7-82544292-G-A | c.13010C>T | p.T4337I | Missense | 7/25 | - | 1 |
7-82544293-T-G | c.13009A>C | p.T4337P | Missense | 7/25 | - | 3 |
7-82544295-C-A | c.13007G>T | p.R4336I | Missense | 7/25 | - | 1 |
7-82544296-CT-C | c.13006del | p.R4336Efs*70 | Frameshift | 7/25 | - | 2 |
7-82544296-TG-T | c.13005del | p.R4336Efs*70 | Frameshift | 7/25 | - | 1 |
7-82544298-G-A | c.13004C>T | p.A4335V | Missense | 7/25 | - | 1 |
7-82544299-C-G | c.13003G>C | p.A4335P | Missense | 7/25 | - | 2 |
7-82544301-G-C | c.13001C>G | p.S4334C | Missense | 7/25 | - | 1 |
7-82544303-G-A | c.12999C>T | p.S4333= | Synonymous | 7/25 | - | 2 |
7-82544304-G-T | c.12998C>A | p.S4333Y | Missense | 7/25 | - | 1 |
7-82544307-G-A | c.12995C>T | p.S4332L | Missense | 7/25 | - | 3 |
7-82544313-T-C | c.12989A>G | p.H4330R | Missense | 7/25 | - | 1 |
7-82544315-A-G | c.12987T>C | p.S4329= | Synonymous | 7/25 | - | 3 |
7-82544316-C-T | c.12986G>A | p.S4329N | Missense | 7/25 | - | 1 |
7-82544317-T-A | c.12985A>T | p.S4329C | Missense | 7/25 | - | 1 |
7-82544322-G-A | c.12980C>T | p.S4327F | Missense | 7/25 | - | 2 |
7-82544323-A-T | c.12979T>A | p.S4327T | Missense | 7/25 | - | 1 |
7-82544325-A-G | c.12977T>C | p.V4326A | Missense | 7/25 | - | 1 |
7-82544328-T-C | c.12974A>G | p.D4325G | Missense | 7/25 | - | 1 |
7-82544332-G-A | c.12970C>T | p.L4324= | Synonymous | 7/25 | - | 1 |
7-82544334-G-A | c.12968C>T | p.A4323V | Missense | 7/25 | - | 1 |
7-82544336-T-C | c.12966A>G | p.E4322= | Synonymous | 7/25 | - | 4 |
7-82544336-T-G | c.12966A>C | p.E4322D | Missense | 7/25 | - | 1 |
7-82544338-C-T | c.12964G>A | p.E4322K | Missense | 7/25 | - | 1 |
7-82544341-C-T | c.12961G>A | p.A4321T | Missense | 7/25 | - | 6 |
7-82544354-C-A | c.12948G>T | p.L4316= | Synonymous | 7/25 | - | 1 |
7-82544354-C-G | c.12948G>C | p.L4316= | Synonymous | 7/25 | - | 1 |
7-82544354-C-T | c.12948G>A | p.L4316= | Synonymous | 7/25 | - | 3 |
7-82544356-G-A | c.12946C>T | p.L4316= | Synonymous | 7/25 | - | 1 |
7-82544357-T-C | c.12945A>G | p.R4315= | Synonymous | 7/25 | - | 1 |
7-82544359-T-G | c.12943A>C | p.R4315= | Synonymous | 7/25 | - | 1 |
7-82544358-C-G | c.12944G>C | p.R4315T | Missense | 7/25 | - | 1 |
7-82544361-TA-T | c.12941del | p.L4314Qfs*3 | Frameshift | 7/25 | - | 1 |
7-82544363-G-A | c.12939C>T | p.S4313= | Synonymous | 7/25 | - | 1 |
7-82544363-G-T | c.12939C>A | p.S4313= | Synonymous | 7/25 | - | 1 |
7-82544364-G-A | c.12938C>T | p.S4313F | Missense | 7/25 | - | 1 |
7-82544364-G-T | c.12938C>A | p.S4313Y | Missense | 7/25 | - | 1 |
7-82544367-G-A | c.12935C>T | p.S4312F | Missense | 7/25 | - | 2 |
7-82544369-G-A | c.12933C>T | p.S4311= | Synonymous | 7/25 | - | 6 |
7-82544373-G-T | c.12929C>A | p.S4310Y | Missense | 7/25 | - | 1 |
7-82544376-G-A | c.12926C>T | p.S4309F | Missense | 7/25 | - | 1 |
7-82544378-A-C | c.12924T>G | p.D4308E | Missense | 7/25 | - | 1 |
7-82544378-A-T | c.12924T>A | p.D4308E | Missense | 7/25 | - | 2 |
7-82544380-C-A | c.12922G>T | p.D4308Y | Missense | 7/25 | - | 1 |
7-82544380-C-T | c.12922G>A | p.D4308N | Missense | 7/25 | - | 5 |
7-82544381-CCT-ACA | c.12919_12921delinsTGT | p.R4307C | Missense | 7/25 | - | 1 |
7-82544381-C-T | c.12921G>A | p.R4307= | Synonymous | 7/25 | - | 3 |
7-82544383-T-G | c.12919A>C | p.R4307= | Synonymous | 7/25 | - | 1 |
7-82544379-TC-T | c.12922del | p.D4308Ifs*7 | Frameshift | 7/25 | - | 1 |
7-82544384-T-C | c.12918A>G | p.K4306= | Synonymous | 7/25 | - | 1 |
7-82544386-T-C | c.12916A>G | p.K4306E | Missense | 7/25 | - | 1 |
7-82544398-C-T | c.12904G>A | p.D4302N | Missense | 7/25 | - | 3 |
7-82544400-A-C | c.12902T>G | p.L4301R | Missense | 7/25 | - | 1 |
7-82544404-C-T | c.12898G>A | p.G4300R | Missense | 7/25 | - | 2 |
7-82544406-T-G | c.12896A>C | p.Y4299S | Missense | 7/25 | - | 1 |
7-82544408-G-A | c.12894C>T | p.V4298= | Synonymous | 7/25 | - | 3 |
7-82544412-G-A | c.12890C>T | p.S4297F | Missense | 7/25 | - | 1 |
7-82544419-G-A | c.12883C>T | p.P4295S | Missense | 7/25 | - | 1 |
7-82544420-T-C | c.12882A>G | p.R4294= | Synonymous | 7/25 | - | 1 |
7-82544422-T-G | c.12880A>C | p.R4294= | Synonymous | 7/25 | - | 1 |
7-82544421-C-G | c.12881G>C | p.R4294T | Missense | 7/25 | - | 1 |
7-82544423-G-A | c.12879C>T | p.S4293= | Synonymous | 7/25 | - | 2 |
7-82544423-G-C | c.12879C>G | p.S4293= | Synonymous | 7/25 | - | 1 |
7-82544423-G-T | c.12879C>A | p.S4293= | Synonymous | 7/25 | - | 1 |
7-82544424-G-A | c.12878C>T | p.S4293F | Missense | 7/25 | - | 1 |
7-82544424-G-C | c.12878C>G | p.S4293C | Missense | 7/25 | - | 1 |
7-82544427-G-A | c.12875C>T | p.S4292F | Missense | 7/25 | - | 4 |
7-82544428-A-T | c.12874T>A | p.S4292T | Missense | 7/25 | - | 1 |
7-82544432-T-C | c.12870A>G | p.R4290= | Synonymous | 7/25 | - | 1 |
7-82544434-T-G | c.12868A>C | p.R4290= | Synonymous | 7/25 | - | 1 |
7-82544436-G-T | c.12866C>A | p.S4289Y | Missense | 7/25 | - | 1 |
7-82544437-A-C | c.12865T>G | p.S4289A | Missense | 7/25 | - | 1 |
7-82544439-C-T | c.12863G>A | p.R4288K | Missense | 7/25 | - | 1 |
7-82544439-CT-TG | c.12862_12863delinsCA | p.R4288Q | Missense | 7/25 | - | 1 |
7-82544444-G-A | c.12858C>T | p.G4286= | Synonymous | 7/25 | - | 1 |
7-82544444-G-C | c.12858C>G | p.G4286= | Synonymous | 7/25 | - | 1 |
7-82544446-C-T | c.12856G>A | p.G4286S | Missense | 7/25 | - | 1 |
7-82544449-T-A | c.12853A>T | p.S4285C | Missense | 7/25 | - | 2 |
7-82544451-C-T | c.12851G>A | p.S4284N | Missense | 7/25 | - | 1 |
7-82544452-T-G | c.12850A>C | p.S4284R | Missense | 7/25 | - | 1 |
7-82544466-G-A | c.12836C>T | p.A4279V | Missense | 7/25 | - | 2 |
7-82544479-G-A | c.12823C>T | p.L4275= | Synonymous | 7/25 | - | 1 |
7-82544482-C-T | c.12820G>A | p.A4274T | Missense | 7/25 | - | 1 |
7-82544485-A-G | c.12817T>C | p.S4273P | Missense | 7/25 | - | 1 |
7-82544487-C-A | c.12815G>T | p.R4272L | Missense | 7/25 | - | 1 |
7-82544487-C-T | c.12815G>A | p.R4272H | Missense | 7/25 | - | 2 |
7-82544488-G-A | c.12814C>T | p.R4272C | Missense | 7/25 | - | 5 |
7-82544489-T-A | c.12813A>T | p.I4271= | Synonymous | 7/25 | - | 1 |
7-82544492-G-A | c.12810C>T | p.T4270= | Synonymous | 7/25 | - | 3 |
7-82544493-G-A | c.12809C>T | p.T4270I | Missense | 7/25 | - | 1 |
7-82544494-T-C | c.12808A>G | p.T4270A | Missense | 7/25 | - | 1 |
7-82544499-C-G | c.12803G>C | p.G4268A | Missense | 7/25 | - | 2 |
7-82544499-C-T | c.12803G>A | p.G4268E | Missense | 7/25 | - | 7 |
7-82544500-C-A | c.12802G>T | p.G4268* | Nonsense | 7/25 | - | 1 |
7-82544500-C-T | c.12802G>A | p.G4268R | Missense | 7/25 | - | 1 |
7-82544502-A-G | c.12800T>C | p.L4267S | Missense | 7/25 | - | 4 |
7-82544505-G-A | c.12797C>T | p.T4266I | Missense | 7/25 | - | 1 |
7-82544508-C-G | c.12794G>C | p.G4265A | Missense | 7/25 | - | 2 |
7-82544508-C-T | c.12794G>A | p.G4265D | Missense | 7/25 | - | 1 |
7-82544510-C-A | c.12792G>T | p.L4264= | Synonymous | 7/25 | - | 1 |
7-82544510-C-T | c.12792G>A | p.L4264= | Synonymous | 7/25 | - | 1 |
7-82544511-A-T | c.12791T>A | p.L4264Q | Missense | 7/25 | - | 1 |
7-82544513-T-A | c.12789A>T | p.G4263= | Synonymous | 7/25 | - | 1 |
7-82544513-T-C | c.12789A>G | p.G4263= | Synonymous | 7/25 | - | 1 |
7-82544513-T-G | c.12789A>C | p.G4263= | Synonymous | 7/25 | - | 1 |
7-82544514-C-A | c.12788G>T | p.G4263V | Missense | 7/25 | - | 1 |
7-82544515-C-G | c.12787G>C | p.G4263R | Missense | 7/25 | - | 2 |
7-82544515-C-T | c.12787G>A | p.G4263R | Missense | 7/25 | - | 2 |
7-82544517-G-A | c.12785C>T | p.T4262I | Missense | 7/25 | - | 1 |
7-82544520-C-T | c.12782G>A | p.G4261D | Missense | 7/25 | - | 1 |
7-82544521-C-A | c.12781G>T | p.G4261C | Missense | 7/25 | - | 2 |
7-82544521-C-T | c.12781G>A | p.G4261S | Missense | 7/25 | - | 1 |
7-82544523-A-C | c.12779T>G | p.L4260R | Missense | 7/25 | - | 1 |
7-82544523-A-G | c.12779T>C | p.L4260P | Missense | 7/25 | - | 3 |
7-82544526-G-A | c.12776C>T | p.S4259F | Missense | 7/25 | - | 2 |
7-82544526-G-T | c.12776C>A | p.S4259Y | Missense | 7/25 | - | 3 |
7-82544527-A-T | c.12775T>A | p.S4259T | Missense | 7/25 | - | 1 |
7-82544529-G-T | c.12773C>A | p.S4258Y | Missense | 7/25 | - | 1 |
7-82544530-A-G | c.12772T>C | p.S4258P | Missense | 7/25 | - | 1 |
7-82544532-C-T | c.12770G>A | p.G4257E | Missense | 7/25 | - | 6 |
7-82544534-C-A | c.12768G>T | p.M4256I | Missense | 7/25 | - | 1 |
7-82544534-C-G | c.12768G>C | p.M4256I | Missense | 7/25 | - | 1 |
7-82544534-C-T | c.12768G>A | p.M4256I | Missense | 7/25 | - | 3 |
7-82544535-A-G | c.12767T>C | p.M4256T | Missense | 7/25 | - | 1 |
7-82544538-A-C | c.12764T>G | p.F4255C | Missense | 7/25 | - | 2 |
7-82544539-A-AT | c.12762dup | p.F4255Ifs*24 | Frameshift | 7/25 | - | 1 |
7-82544545-G-T | c.12757C>A | p.Q4253K | Missense | 7/25 | - | 1 |
7-82544548-G-T | c.12754C>A | p.Q4252K | Missense | 7/25 | - | 2 |
7-82544551-C-A | c.12751G>T | p.D4251Y | Missense | 7/25 | - | 1 |
7-82544551-C-T | c.12751G>A | p.D4251N | Missense | 7/25 | - | 6 |
7-82544553-GT-CC | c.12748_12749delinsGG | p.T4250G | Missense | 7/25 | - | 1 |
7-82544554-T-C | c.12748A>G | p.T4250A | Missense | 7/25 | - | 1 |
7-82544556-A-AT | c.12745dup | p.I4249Nfs*30 | Frameshift | 7/25 | - | 1 |
7-82544559-T-A | c.12743A>T | p.N4248I | Missense | 7/25 | - | 4 |
7-82544559-T-G | c.12743A>C | p.N4248T | Missense | 7/25 | - | 1 |
7-82544562-T-C | c.12740A>G | p.K4247R | Missense | 7/25 | - | 1 |
7-82544563-T-C | c.12739A>G | p.K4247E | Missense | 7/25 | - | 1 |
7-82544558-A-AT | c.12743dup | p.N4248Kfs*31 | Frameshift | 7/25 | - | 4 |
7-82544565-C-T | c.12737G>A | p.R4246K | Missense | 7/25 | - | 3 |
7-82544565-CT-TG | c.12736_12737delinsCA | p.R4246Q | Missense | 7/25 | - | 1 |
7-82544566-T-C | c.12736A>G | p.R4246G | Missense | 7/25 | - | 1 |
7-82544569-G-A | c.12733C>T | p.L4245F | Missense | 7/25 | - | 2 |
7-82544570-G-T | c.12732C>A | p.G4244= | Synonymous | 7/25 | - | 1 |
7-82544571-C-G | c.12731G>C | p.G4244A | Missense | 7/25 | - | 1 |
7-82544571-C-T | c.12731G>A | p.G4244D | Missense | 7/25 | - | 1 |
7-82544572-C-T | c.12730G>A | p.G4244S | Missense | 7/25 | - | 1 |
7-82544573-A-C | c.12729T>G | p.F4243L | Missense | 7/25 | - | 1 |
7-82544576-A-T | c.12726T>A | p.T4242= | Synonymous | 7/25 | - | 1 |
7-82544579-G-A | c.12723C>T | p.I4241= | Synonymous | 7/25 | - | 3 |
7-82544579-G-T | c.12723C>A | p.I4241= | Synonymous | 7/25 | - | 1 |
7-82544582-G-A | c.12720C>T | p.D4240= | Synonymous | 7/25 | - | 1 |
7-82544584-C-A | c.12718G>T | p.D4240Y | Missense | 7/25 | - | 1 |
7-82544584-C-T | c.12718G>A | p.D4240N | Missense | 7/25 | - | 1 |
7-82544590-G-A | c.12712C>T | p.Q4238* | Nonsense | 7/25 | - | 2 |
7-82544592-A-G | c.12710T>C | p.L4237P | Missense | 7/25 | - | 1 |
7-82544594-G-A | c.12708C>T | p.L4236= | Synonymous | 7/25 | - | 3 |
7-82544596-G-A | c.12706C>T | p.L4236F | Missense | 7/25 | - | 1 |
7-82544597-C-A | c.12705G>T | p.R4235S | Missense | 7/25 | - | 1 |
7-82544597-C-G | c.12705G>C | p.R4235S | Missense | 7/25 | - | 1 |
7-82544601-G-A | c.12701C>T | p.A4234V | Missense | 7/25 | - | 1 |
7-82544602-C-A | c.12700G>T | p.A4234S | Missense | 7/25 | - | 1 |
7-82544602-C-G | c.12700G>C | p.A4234P | Missense | 7/25 | - | 3 |
7-82544602-C-T | c.12700G>A | p.A4234T | Missense | 7/25 | - | 1 |
7-82544603-C-T | c.12699G>A | p.R4233= | Synonymous | 7/25 | - | 3 |
7-82544604-C-T | c.12698G>A | p.R4233K | Missense | 7/25 | - | 3 |
7-82544609-G-A | c.12693C>T | p.S4231= | Synonymous | 7/25 | - | 1 |
7-82544609-G-C | c.12693C>G | p.S4231= | Synonymous | 7/25 | - | 1 |
7-82544609-G-T | c.12693C>A | p.S4231= | Synonymous | 7/25 | - | 1 |
7-82544610-G-A | c.12692C>T | p.S4231F | Missense | 7/25 | - | 13 |
7-82544612-A-C | c.12690T>G | p.I4230M | Missense | 7/25 | - | 1 |
7-82544613-A-T | c.12689T>A | p.I4230N | Missense | 7/25 | - | 2 |
7-82544614-T-C | c.12688A>G | p.I4230V | Missense | 7/25 | - | 1 |
7-82544616-C-G | c.12686G>C | p.G4229A | Missense | 7/25 | - | 1 |
7-82544619-C-T | c.12683G>A | p.G4228D | Missense | 7/25 | - | 2 |
7-82544625-G-C | c.12677C>G | p.S4226C | Missense | 7/25 | - | 1 |
7-82544626-A-G | c.12676T>C | p.S4226P | Missense | 7/25 | - | 1 |
7-82544628-G-A | c.12674C>T | p.S4225L | Missense | 7/25 | - | 4 |
7-82544631-G-A | c.12671C>T | p.T4224I | Missense | 7/25 | - | 1 |
7-82544631-G-T | c.12671C>A | p.T4224N | Missense | 7/25 | - | 1 |
7-82544634-C-A | c.12668G>T | p.S4223I | Missense | 7/25 | - | 1 |
7-82544634-C-T | c.12668G>A | p.S4223N | Missense | 7/25 | - | 2 |
7-82544646-T-C | c.12656A>G | p.Y4219C | Missense | 7/25 | - | 1 |
7-82544651-T-G | c.12651A>C | p.S4217= | Synonymous | 7/25 | - | 1 |
7-82544652-G-A | c.12650C>T | p.S4217L | Missense | 7/25 | - | 1 |
7-82544653-A-C | c.12649T>G | p.S4217A | Missense | 7/25 | - | 1 |
7-82544655-T-G | c.12647A>C | p.Y4216S | Missense | 7/25 | - | 1 |
7-82544657-A-T | c.12645T>A | p.D4215E | Missense | 7/25 | - | 1 |
7-82544659-C-A | c.12643G>T | p.D4215Y | Missense | 7/25 | - | 2 |
7-82544661-G-A | c.12641C>T | p.P4214L | Missense | 7/25 | - | 3 |
7-82544662-G-A | c.12640C>T | p.P4214S | Missense | 7/25 | - | 2 |
7-82544665-C-G | c.12637G>C | p.E4213Q | Missense | 7/25 | - | 2 |
7-82544668-G-C | c.12634C>G | p.L4212V | Missense | 7/25 | - | 1 |
7-82544668-G-T | c.12634C>A | p.L4212I | Missense | 7/25 | - | 1 |
7-82544669-G-C | c.12633C>G | p.D4211E | Missense | 7/25 | - | 1 |
7-82544671-C-T | c.12631G>A | p.D4211N | Missense | 7/25 | - | 2 |
7-82544673-C-G | c.12629G>C | p.R4210T | Missense | 7/25 | - | 4 |
7-82544673-C-T | c.12629G>A | p.R4210K | Missense | 7/25 | - | 1 |
7-82544674-T-C | c.12628A>G | p.R4210G | Missense | 7/25 | - | 1 |
7-82544682-T-G | c.12620A>C | p.Q4207P | Missense | 7/25 | - | 1 |
7-82544683-G-A | c.12619C>T | p.Q4207* | Nonsense | 7/25 | - | 2 |
7-82544685-A-C | c.12617T>G | p.I4206S | Missense | 7/25 | - | 1 |
7-82544685-A-G | c.12617T>C | p.I4206T | Missense | 7/25 | - | 3 |
7-82544688-G-A | c.12614C>T | p.P4205L | Missense | 7/25 | - | 1 |
7-82544691-G-A | c.12611C>T | p.S4204L | Missense | 7/25 | - | 6 |
7-82544693-A-C | c.12609T>G | p.F4203L | Missense | 7/25 | - | 2 |
7-82544693-A-T | c.12609T>A | p.F4203L | Missense | 7/25 | - | 2 |
7-82544695-A-G | c.12607T>C | p.F4203L | Missense | 7/25 | - | 2 |
7-82544696-T-A | c.12606A>T | p.K4202N | Missense | 7/25 | - | 4 |
7-82544696-T-G | c.12606A>C | p.K4202N | Missense | 7/25 | - | 7 |
7-82544697-T-A | c.12605A>T | p.K4202I | Missense | 7/25 | - | 1 |
7-82544697-T-C | c.12605A>G | p.K4202R | Missense | 7/25 | - | 1 |
7-82544697-T-G | c.12605A>C | p.K4202T | Missense | 7/25 | - | 1 |
7-82544698-T-G | c.12604A>C | p.K4202Q | Missense | 7/25 | - | 1 |
7-82544699-T-A | c.12603A>T | p.S4201= | Synonymous | 7/25 | - | 1 |
7-82544700-TG-T | c.12602del | p.S4201* | Frameshift | 7/25 | - | 2 |
7-82544701-A-T | c.12601T>A | p.S4201T | Missense | 7/25 | - | 1 |
7-82544704-T-C | c.12598A>G | p.M4200V | Missense | 7/25 | - | 1 |
7-82544705-T-C | c.12597A>G | p.K4199= | Synonymous | 7/25 | - | 1 |
7-82544709-G-A | c.12593C>T | p.P4198L | Missense | 7/25 | - | 3 |
7-82544709-G-T | c.12593C>A | p.P4198H | Missense | 7/25 | - | 3 |
7-82544712-T-A | c.12590A>T | p.D4197V | Missense | 7/25 | - | 1 |
7-82544714-A-T | c.12588T>A | p.I4196= | Synonymous | 7/25 | - | 1 |
7-82544719-G-A | c.12583C>T | p.L4195= | Synonymous | 7/25 | - | 5 |
7-82544719-G-T | c.12583C>A | p.L4195I | Missense | 7/25 | - | 2 |
7-82544721-G-A | c.12581C>T | p.S4194L | Missense | 7/25 | - | 2 |
7-82544722-A-C | c.12580T>G | p.S4194A | Missense | 7/25 | - | 1 |
7-82544723-T-A | c.12579A>T | p.K4193N | Missense | 7/25 | - | 1 |
7-82544725-T-G | c.12577A>C | p.K4193Q | Missense | 7/25 | - | 1 |
7-82544726-C-T | c.12576G>A | p.K4192= | Synonymous | 7/25 | - | 1 |
7-82544727-T-C | c.12575A>G | p.K4192R | Missense | 7/25 | - | 1 |
7-82544727-T-G | c.12575A>C | p.K4192T | Missense | 7/25 | - | 4 |
7-82544730-T-A | c.12572A>T | p.H4191L | Missense | 7/25 | - | 1 |
7-82544730-T-C | c.12572A>G | p.H4191R | Missense | 7/25 | - | 1 |
7-82544731-G-A | c.12571C>T | p.H4191Y | Missense | 7/25 | - | 1 |
7-82544733-T-C | c.12569A>G | p.K4190R | Missense | 7/25 | - | 1 |
7-82544734-T-A | c.12568A>T | p.K4190* | Nonsense | 7/25 | - | 1 |
7-82544736-G-C | c.12566C>G | p.S4189* | Nonsense | 7/25 | - | 1 |
7-82544738-C-A | c.12564G>T | p.Q4188H | Missense | 7/25 | - | 1 |
7-82544738-C-G | c.12564G>C | p.Q4188H | Missense | 7/25 | - | 1 |
7-82544741-C-T | c.12561G>A | p.K4187= | Synonymous | 7/25 | - | 2 |
7-82544746-G-C | c.12556C>G | p.Q4186E | Missense | 7/25 | - | 1 |
7-82544746-G-T | c.12556C>A | p.Q4186K | Missense | 7/25 | - | 1 |
7-82544754-A-C | c.12548T>G | p.I4183R | Missense | 7/25 | - | 1 |
7-82544757-G-A | c.12545C>T | p.A4182V | Missense | 7/25 | - | 5 |
7-82544761-C-A | c.12541G>T | p.A4181S | Missense | 7/25 | - | 3 |
7-82544770-G-A | c.12532C>T | p.Q4178* | Nonsense | 7/25 | - | 1 |
7-82544772-T-A | c.12530A>T | p.K4177I | Missense | 7/25 | - | 1 |
7-82544776-C-T | c.12526G>A | p.A4176T | Missense | 7/25 | - | 1 |
7-82544778-TG-T | c.12524del | p.A4175Efs*21 | Frameshift | 7/25 | - | 1 |
7-82544779-CT-C | c.12522del | p.A4175Qfs*21 | Frameshift | 7/25 | - | 1 |
7-82544782-G-C | c.12520C>G | p.Q4174E | Missense | 7/25 | - | 1 |
7-82544782-GT-G | c.12519del | p.K4173Nfs*23 | Frameshift | 7/25 | - | 1 |
7-82544788-C-T | c.12514G>A | p.E4172K | Missense | 7/25 | - | 4 |
7-82544795-G-C | c.12507C>G | p.L4169= | Synonymous | 7/25 | - | 1 |
7-82544798-T-G | c.12504A>C | p.R4168S | Missense | 7/25 | - | 1 |
7-82544803-T-C | c.12499A>G | p.S4167G | Missense | 7/25 | - | 1 |
7-82544808-C-T | c.12494G>A | p.S4165N | Missense | 7/25 | - | 4 |
7-82544814-T-G | c.12488A>C | p.K4163T | Missense | 7/25 | - | 1 |
7-82544816-C-A | c.12486G>T | p.E4162D | Missense | 7/25 | - | 4 |
7-82544816-C-G | c.12486G>C | p.E4162D | Missense | 7/25 | - | 2 |
7-82544818-C-A | c.12484G>T | p.E4162* | Nonsense | 7/25 | - | 1 |
7-82544818-C-T | c.12484G>A | p.E4162K | Missense | 7/25 | - | 1 |
7-82544824-T-TA | c.12477_12478insT | p.K4160* | Nonsense | 7/25 | - | 1 |
7-82544827-G-A | c.12475C>T | p.P4159S | Missense | 7/25 | - | 6 |
7-82544834-T-A | c.12468A>T | p.R4156S | Missense | 7/25 | - | 1 |
7-82544834-T-G | c.12468A>C | p.R4156S | Missense | 7/25 | - | 1 |
7-82544835-C-A | c.12467G>T | p.R4156I | Missense | 7/25 | - | 1 |
7-82544835-C-T | c.12467G>A | p.R4156K | Missense | 7/25 | - | 2 |
7-82544838-T-C | c.12464A>G | p.Y4155C | Missense | 7/25 | - | 2 |
7-82544840-G-A | c.12462C>T | p.S4154= | Synonymous | 7/25 | - | 2 |
7-82544840-G-T | c.12462C>A | p.S4154R | Missense | 7/25 | - | 1 |
7-82544842-T-A | c.12460A>T | p.S4154C | Missense | 7/25 | - | 2 |
7-82544844-G-A | c.12458C>T | p.T4153I | Missense | 7/25 | - | 1 |
7-82544845-T-C | c.12457A>G | p.T4153A | Missense | 7/25 | - | 1 |
7-82544848-C-G | c.12454G>C | p.D4152H | Missense | 7/25 | - | 3 |
7-82544848-C-T | c.12454G>A | p.D4152N | Missense | 7/25 | - | 4 |
7-82544849-A-C | c.12453T>G | p.A4151= | Synonymous | 7/25 | - | 2 |
7-82544851-C-T | c.12451G>A | p.A4151T | Missense | 7/25 | - | 1 |
7-82544860-A-G | c.12442T>C | p.Y4148H | Missense | 7/25 | - | 2 |
7-82544863-G-A | c.12439C>T | p.H4147Y | Missense | 7/25 | - | 3 |
7-82544863-G-C | c.12439C>G | p.H4147D | Missense | 7/25 | - | 1 |
7-82544864-A-T | c.12438T>A | p.S4146= | Synonymous | 7/25 | - | 1 |
7-82544867-A-G | c.12435T>C | p.L4145= | Synonymous | 7/25 | - | 1 |
7-82544868-A-G | c.12434T>C | p.L4145P | Missense | 7/25 | - | 1 |
7-82544868-A-T | c.12434T>A | p.L4145H | Missense | 7/25 | - | 1 |
7-82544869-G-T | c.12433C>A | p.L4145I | Missense | 7/25 | - | 1 |
7-82544871-C-A | c.12431G>T | p.G4144V | Missense | 7/25 | - | 1 |
7-82544872-C-A | c.12430G>T | p.G4144C | Missense | 7/25 | - | 1 |
7-82544875-C-A | c.12427G>T | p.A4143S | Missense | 7/25 | - | 1 |
7-82544881-G-A | c.12421C>T | p.H4141Y | Missense | 7/25 | - | 1 |
7-82544884-C-T | c.12418G>A | p.D4140N | Missense | 7/25 | - | 3 |
7-82544889-C-A | c.12413G>T | p.S4138I | Missense | 7/25 | - | 1 |
7-82544891-C-A | c.12411G>T | p.E4137D | Missense | 7/25 | - | 2 |
7-82544891-C-G | c.12411G>C | p.E4137D | Missense | 7/25 | - | 1 |
7-82544895-G-T | c.12407C>A | p.T4136K | Missense | 7/25 | - | 1 |
7-82544896-T-A | c.12406A>T | p.T4136S | Missense | 7/25 | - | 1 |
7-82544898-C-T | c.12404G>A | p.G4135E | Missense | 7/25 | - | 5 |
7-82544899-C-T | c.12403G>A | p.G4135R | Missense | 7/25 | - | 2 |
7-82544901-C-G | c.12401G>C | p.R4134T | Missense | 7/25 | - | 1 |
7-82544904-C-T | c.12398G>A | p.R4133H | Missense | 7/25 | - | 6 |
7-82544905-G-A | c.12397C>T | p.R4133C | Missense | 7/25 | - | 16 |
7-82544906-A-C | c.12396T>G | p.F4132L | Missense | 7/25 | - | 1 |
7-82544906-A-T | c.12396T>A | p.F4132L | Missense | 7/25 | - | 1 |
7-82544908-A-G | c.12394T>C | p.F4132L | Missense | 7/25 | - | 1 |
7-82544911-C-T | c.12391G>A | p.E4131K | Missense | 7/25 | - | 2 |
7-82544912-C-T | c.12390G>A | p.Q4130= | Synonymous | 7/25 | - | 1 |
7-82544913-T-A | c.12389A>T | p.Q4130L | Missense | 7/25 | - | 1 |
7-82544919-A-T | c.12383T>A | p.I4128N | Missense | 7/25 | - | 1 |
7-82544921-C-G | c.12381G>C | p.Q4127H | Missense | 7/25 | - | 1 |
7-82544921-C-T | c.12381G>A | p.Q4127= | Synonymous | 7/25 | - | 2 |
7-82544925-T-C | c.12377A>G | p.H4126R | Missense | 7/25 | - | 1 |
7-82544931-A-T | c.12371T>A | p.L4124Q | Missense | 7/25 | - | 1 |
7-82544932-G-C | c.12370C>G | p.L4124V | Missense | 7/25 | - | 1 |
7-82544935-G-T | c.12367C>A | p.L4123I | Missense | 7/25 | - | 1 |
7-82544942-C-A | c.12360G>T | p.E4120D | Missense | 7/25 | - | 1 |
7-82544944-C-T | c.12358G>A | p.E4120K | Missense | 7/25 | - | 13 |
7-82544945-G-A | c.12357C>T | p.Y4119= | Synonymous | 7/25 | - | 5 |
7-82544949-G-T | c.12353C>A | p.P4118H | Missense | 7/25 | - | 1 |
7-82544950-G-A | c.12352C>T | p.P4118S | Missense | 7/25 | - | 5 |
7-82544953-C-G | c.12349G>C | p.D4117H | Missense | 7/25 | - | 3 |
7-82544953-C-T | c.12349G>A | p.D4117N | Missense | 7/25 | - | 2 |
7-82544958-A-C | c.12344T>G | p.M4115R | Missense | 7/25 | - | 1 |
7-82544962-G-C | c.12340C>G | p.P4114A | Missense | 7/25 | - | 1 |
7-82544968-C-T | c.12334G>A | p.E4112K | Missense | 7/25 | - | 7 |
7-82544970-T-A | c.12332A>T | p.E4111V | Missense | 7/25 | - | 1 |
7-82544971-C-T | c.12331G>A | p.E4111K | Missense | 7/25 | - | 5 |
7-82544972-C-T | c.12330G>A | p.A4110= | Synonymous | 7/25 | - | 1 |
7-82544973-G-A | c.12329C>T | p.A4110V | Missense | 7/25 | - | 4 |
7-82544978-C-T | c.12324G>A | p.V4108= | Synonymous | 7/25 | - | 1 |
7-82544983-A-T | c.12319T>A | p.Y4107N | Missense | 7/25 | - | 1 |
7-82544985-C-G | c.12317G>C | p.S4106T | Missense | 7/25 | - | 1 |
7-82544987-A-G | c.12315T>C | p.H4105= | Synonymous | 7/25 | - | 19 |
7-82544988-T-C | c.12314A>G | p.H4105R | Missense | 7/25 | - | 1 |
7-82544991-AA-GG | c.12310_12311delinsCC | p.L4104P | Missense | 7/25 | - | 1 |
7-82544991-A-G | c.12311T>C | p.L4104S | Missense | 7/25 | - | 1 |
7-82544994-C-G | c.12308G>C | p.R4103T | Missense | 7/25 | - | 2 |
7-82544999-G-A | c.12303C>T | p.S4101= | Synonymous | 7/25 | - | 1 |
7-82545000-G-A | c.12302C>T | p.S4101F | Missense | 7/25 | - | 7 |
7-82545001-A-G | c.12301T>C | p.S4101P | Missense | 7/25 | - | 1 |
7-82545009-A-G | c.12293T>C | p.L4098S | Missense | 7/25 | - | 1 |
7-82545019-G-A | c.12283C>T | p.L4095= | Synonymous | 7/25 | - | 2 |
7-82545020-G-A | c.12282C>T | p.F4094= | Synonymous | 7/25 | - | 5 |
7-82545021-A-T | c.12281T>A | p.F4094Y | Missense | 7/25 | - | 3 |
7-82545023-A-C | c.12279T>G | p.D4093E | Missense | 7/25 | - | 2 |
7-82545023-A-T | c.12279T>A | p.D4093E | Missense | 7/25 | - | 2 |
7-82545027-G-A | c.12275C>T | p.T4092I | Missense | 7/25 | - | 2 |
7-82545027-G-C | c.12275C>G | p.T4092R | Missense | 7/25 | - | 1 |
7-82545028-T-C | c.12274A>G | p.T4092A | Missense | 7/25 | - | 1 |
7-82545028-T-G | c.12274A>C | p.T4092P | Missense | 7/25 | - | 2 |
7-82545034-C-G | c.12268G>C | p.E4090Q | Missense | 7/25 | - | 4 |
7-82545039-G-C | c.12263C>G | p.S4088C | Missense | 7/25 | - | 1 |
7-82545041-C-T | c.12261G>A | p.R4087= | Synonymous | 7/25 | - | 1 |
7-82545042-C-T | c.12260G>A | p.R4087Q | Missense | 7/25 | - | 1 |
7-82545043-G-A | c.12259C>T | p.R4087W | Missense | 7/25 | - | 1 |
7-82545044-G-C | c.12258C>G | p.R4086= | Synonymous | 7/25 | - | 1 |
7-82545045-C-A | c.12257G>T | p.R4086L | Missense | 7/25 | - | 1 |
7-82545045-C-G | c.12257G>C | p.R4086P | Missense | 7/25 | - | 1 |
7-82545045-C-T | c.12257G>A | p.R4086H | Missense | 7/25 | - | 1 |
7-82545046-G-A | c.12256C>T | p.R4086C | Missense | 7/25 | - | 1 |
7-82545052-C-T | c.12250G>A | p.E4084K | Missense | 7/25 | - | 2 |
7-82545060-C-T | c.12242G>A | p.R4081Q | Missense | 7/25 | - | 1 |
7-82545061-G-A | c.12241C>T | p.R4081* | Nonsense | 7/25 | - | 4 |
7-82545065-G-A | c.12237C>T | p.L4079= | Synonymous | 7/25 | - | 3 |
7-82545069-C-T | c.12233G>A | p.R4078H | Missense | 7/25 | - | 7 |
7-82545070-G-A | c.12232C>T | p.R4078C | Missense | 7/25 | - | 2 |
7-82545071-G-A | c.12231C>T | p.D4077= | Synonymous | 7/25 | - | 1 |
7-82545071-G-T | c.12231C>A | p.D4077E | Missense | 7/25 | - | 1 |
7-82545085-G-A | c.12217C>T | p.L4073= | Synonymous | 7/25 | - | 2 |
7-82545089-C-A | c.12213G>T | p.K4071N | Missense | 7/25 | - | 1 |
7-82545089-C-G | c.12213G>C | p.K4071N | Missense | 7/25 | - | 1 |
7-82545096-T-C | c.12206A>G | p.H4069R | Missense | 7/25 | - | 1 |
7-82545097-G-T | c.12205C>A | p.H4069N | Missense | 7/25 | - | 1 |
7-82545104-A-C | c.12198T>G | p.F4066L | Missense | 7/25 | - | 1 |
7-82545104-A-T | c.12198T>A | p.F4066L | Missense | 7/25 | - | 1 |
7-82545106-A-G | c.12196T>C | p.F4066L | Missense | 7/25 | - | 1 |
7-82545109-C-T | c.12193G>A | p.A4065T | Missense | 7/25 | - | 1 |
7-82545110-G-A | c.12192C>T | p.T4064= | Synonymous | 7/25 | - | 1 |
7-82545110-G-C | c.12192C>G | p.T4064= | Synonymous | 7/25 | - | 1 |
7-82545110-G-T | c.12192C>A | p.T4064= | Synonymous | 7/25 | - | 1 |
7-82545114-C-G | c.12188G>C | p.S4063T | Missense | 7/25 | - | 1 |
7-82545121-C-G | c.12181G>C | p.A4061P | Missense | 7/25 | - | 1 |
7-82545122-C-A | c.12180G>T | p.A4060= | Synonymous | 7/25 | - | 2 |
7-82545122-C-G | c.12180G>C | p.A4060= | Synonymous | 7/25 | - | 1 |
7-82545122-C-T | c.12180G>A | p.A4060= | Synonymous | 7/25 | - | 1 |
7-82545123-G-A | c.12179C>T | p.A4060V | Missense | 7/25 | - | 2 |
7-82545123-G-T | c.12179C>A | p.A4060E | Missense | 7/25 | - | 1 |
7-82545124-C-T | c.12178G>A | p.A4060T | Missense | 7/25 | - | 4 |
7-82545128-T-A | c.12174A>T | p.G4058= | Synonymous | 7/25 | - | 1 |
7-82545128-T-C | c.12174A>G | p.G4058= | Synonymous | 7/25 | - | 1 |
7-82545128-T-G | c.12174A>C | p.G4058= | Synonymous | 7/25 | - | 1 |
7-82545129-C-T | c.12173G>A | p.G4058E | Missense | 7/25 | - | 2 |
7-82545138-A-G | c.12164T>C | p.I4055T | Missense | 7/25 | - | 1 |
7-82545139-T-A | c.12163A>T | p.I4055F | Missense | 7/25 | - | 1 |
7-82545144-C-T | c.12158G>A | p.G4053E | Missense | 7/25 | - | 2 |
7-82545147-A-G | c.12155T>C | p.I4052T | Missense | 7/25 | - | 1 |
7-82545147-A-T | c.12155T>A | p.I4052N | Missense | 7/25 | - | 1 |
7-82545148-T-C | c.12154A>G | p.I4052V | Missense | 7/25 | - | 3 |
7-82545149-G-A | c.12153C>T | p.D4051= | Synonymous | 7/25 | - | 1 |
7-82545151-C-T | c.12151G>A | p.D4051N | Missense | 7/25 | - | 2 |
7-82545152-G-A | c.12150C>T | p.D4050= | Synonymous | 7/25 | - | 3 |
7-82545152-G-T | c.12150C>A | p.D4050E | Missense | 7/25 | - | 2 |
7-82545156-A-G | c.12146T>C | p.I4049T | Missense | 7/25 | - | 1 |
7-82545160-G-T | c.12142C>A | p.L4048I | Missense | 7/25 | - | 1 |
7-82545161-G-A | c.12141C>T | p.V4047= | Synonymous | 7/25 | - | 1 |
7-82545171-C-T | c.12131G>A | p.R4044Q | Missense | 7/25 | - | 18 |
7-82545172-G-A | c.12130C>T | p.R4044* | Nonsense | 7/25 | - | 5 |
7-82545174-G-A | c.12128C>T | p.P4043L | Missense | 7/25 | - | 2 |
7-82545175-G-A | c.12127C>T | p.P4043S | Missense | 7/25 | - | 1 |
7-82545175-G-T | c.12127C>A | p.P4043T | Missense | 7/25 | - | 1 |
7-82545177-G-A | c.12125C>T | p.T4042I | Missense | 7/25 | - | 1 |
7-82545181-G-A | c.12121C>T | p.H4041Y | Missense | 7/25 | - | 1 |
7-82545184-G-A | c.12118C>T | p.H4040Y | Missense | 7/25 | - | 1 |
7-82545184-G-T | c.12118C>A | p.H4040N | Missense | 7/25 | - | 1 |
7-82545187-C-G | c.12115G>C | p.D4039H | Missense | 7/25 | - | 2 |
7-82545187-C-T | c.12115G>A | p.D4039N | Missense | 7/25 | - | 4 |
7-82545192-T-G | c.12110A>C | p.D4037A | Missense | 7/25 | - | 1 |
7-82545193-C-T | c.12109G>A | p.D4037N | Missense | 7/25 | - | 3 |
7-82545198-T-C | c.12104A>G | p.Y4035C | Missense | 7/25 | - | 5 |
7-82545200-G-T | c.12102C>A | p.F4034L | Missense | 7/25 | - | 2 |
7-82545200-G-C | c.12102C>G | p.F4034L | Missense | 7/25 | - | 1 |
7-82545202-A-G | c.12100T>C | p.F4034L | Missense | 7/25 | - | 1 |
7-82545204-G-A | c.12098C>T | p.S4033F | Missense | 7/25 | - | 3 |
7-82545207-T-C | c.12095A>G | p.D4032G | Missense | 7/25 | - | 1 |
7-82545208-C-A | c.12094G>T | p.D4032Y | Missense | 7/25 | - | 1 |
7-82545213-G-A | c.12089C>T | p.S4030F | Missense | 7/25 | - | 1 |
7-82545215-T-C | c.12087A>G | p.I4029M | Missense | 7/25 | - | 1 |
7-82545219-C-T | c.12083G>A | p.S4028N | Missense | 7/25 | - | 1 |
7-82545222-G-A | c.12080C>T | p.S4027L | Missense | 7/25 | - | 1 |
7-82545222-G-C | c.12080C>G | p.S4027* | Nonsense | 7/25 | - | 1 |
7-82545222-G-T | c.12080C>A | p.S4027* | Nonsense | 7/25 | - | 1 |
7-82545225-TA-T | c.12077del | p.I4026Nfs*23 | Frameshift | 7/25 | - | 1 |
7-82545228-G-A | c.12074C>T | p.P4025L | Missense | 7/25 | - | 1 |
7-82545229-G-C | c.12073C>G | p.P4025A | Missense | 7/25 | - | 1 |
7-82545234-C-T | c.12068G>A | p.S4023N | Missense | 7/25 | - | 1 |
7-82545235-T-C | c.12067A>G | p.S4023G | Missense | 7/25 | - | 1 |
7-82545239-C-A | c.12063G>T | p.M4021I | Missense | 7/25 | - | 1 |
7-82545242-G-A | c.12060C>T | p.S4020= | Synonymous | 7/25 | - | 1 |
7-82545243-C-A | c.12059G>T | p.S4020I | Missense | 7/25 | - | 4 |
7-82545244-T-C | c.12058A>G | p.S4020G | Missense | 7/25 | - | 3 |
7-82545245-A-G | c.12057T>C | p.S4019= | Synonymous | 7/25 | - | 1 |
7-82545246-C-G | c.12056G>C | p.S4019T | Missense | 7/25 | - | 1 |
7-82545246-C-T | c.12056G>A | p.S4019N | Missense | 7/25 | - | 1 |
7-82545247-T-C | c.12055A>G | p.S4019G | Missense | 7/25 | - | 1 |
7-82545247-T-G | c.12055A>C | p.S4019R | Missense | 7/25 | - | 1 |
7-82545249-C-A | c.12053G>T | p.R4018I | Missense | 7/25 | - | 1 |
7-82545252-T-A | c.12050A>T | p.E4017V | Missense | 7/25 | - | 3 |
7-82545253-C-T | c.12049G>A | p.E4017K | Missense | 7/25 | - | 6 |
7-82545256-C-T | c.12046G>A | p.E4016K | Missense | 7/25 | - | 1 |
7-82545258-AA-GG | c.12043_12044delinsCC | p.L4015P | Missense | 7/25 | - | 1 |
7-82545262-C-T | c.12040G>A | p.G4014S | Missense | 7/25 | - | 1 |
7-82545263-T-C | c.12039A>G | p.I4013M | Missense | 7/25 | - | 1 |
7-82545273-T-C | c.12029A>G | p.D4010G | Missense | 7/25 | - | 2 |
7-82545274-C-A | c.12028G>T | p.D4010Y | Missense | 7/25 | - | 2 |
7-82545274-C-T | c.12028G>A | p.D4010N | Missense | 7/25 | - | 1 |
7-82545277-A-T | c.12025T>A | p.L4009I | Missense | 7/25 | - | 1 |
7-82545280-T-G | c.12022A>C | p.S4008R | Missense | 7/25 | - | 1 |
7-82545288-T-G | c.12014A>C | p.K4005T | Missense | 7/25 | - | 2 |
7-82545290-ACT-TCA | c.12010_12012delinsTGA | p.S4004* | Nonsense | 7/25 | - | 1 |
7-82545293-A-C | c.12009T>G | p.G4003= | Synonymous | 7/25 | - | 1 |
7-82545294-C-A | c.12008G>T | p.G4003V | Missense | 7/25 | - | 1 |
7-82545296-A-C | c.12006T>G | p.L4002= | Synonymous | 7/25 | - | 1 |
7-82545296-A-G | c.12006T>C | p.L4002= | Synonymous | 7/25 | - | 2 |
7-82545296-A-T | c.12006T>A | p.L4002= | Synonymous | 7/25 | - | 1 |
7-82545298-G-A | c.12004C>T | p.L4002F | Missense | 7/25 | - | 1 |
7-82545303-G-A | c.11999C>T | p.S4000F | Missense | 7/25 | - | 4 |
7-82545309-G-A | c.11993C>T | p.A3998V | Missense | 7/25 | - | 2 |
7-82545310-C-A | c.11992G>T | p.A3998S | Missense | 7/25 | - | 3 |
7-82545312-A-C | c.11990T>G | p.F3997C | Missense | 7/25 | - | 1 |
7-82545312-A-T | c.11990T>A | p.F3997Y | Missense | 7/25 | - | 1 |
7-82545311-A-C | c.11991T>G | p.F3997L | Missense | 7/25 | - | 1 |
7-82545317-G-T | c.11985C>A | p.N3995K | Missense | 7/25 | - | 1 |
7-82545321-T-A | c.11981A>T | p.D3994V | Missense | 7/25 | - | 1 |
7-82545322-C-G | c.11980G>C | p.D3994H | Missense | 7/25 | - | 1 |
7-82545322-C-T | c.11980G>A | p.D3994N | Missense | 7/25 | - | 4 |
7-82545323-C-A | c.11979G>T | p.T3993= | Synonymous | 7/25 | - | 1 |
7-82545323-C-G | c.11979G>C | p.T3993= | Synonymous | 7/25 | - | 1 |
7-82545323-C-T | c.11979G>A | p.T3993= | Synonymous | 7/25 | - | 3 |
7-82545324-G-A | c.11978C>T | p.T3993M | Missense | 7/25 | - | 1 |
7-82545327-G-A | c.11975C>T | p.S3992F | Missense | 7/25 | - | 2 |
7-82545327-G-T | c.11975C>A | p.S3992Y | Missense | 7/25 | - | 1 |
7-82545331-C-A | c.11971G>T | p.V3991F | Missense | 7/25 | - | 3 |
7-82545336-G-A | c.11966C>T | p.A3989V | Missense | 7/25 | - | 1 |
7-82545336-G-T | c.11966C>A | p.A3989E | Missense | 7/25 | - | 1 |
7-82545337-C-T | c.11965G>A | p.A3989T | Missense | 7/25 | - | 2 |
7-82545341-C-T | c.11961G>A | p.M3987I | Missense | 7/25 | - | 1 |
7-82545342-A-G | c.11960T>C | p.M3987T | Missense | 7/25 | - | 1 |
7-82545343-AT-A | c.11959del | p.M3987* | Frameshift | 7/25 | - | 1 |
7-82545343-T-TTA | c.11958_11959insTA | p.M3987* | Nonsense | 7/25 | - | 1 |
7-82545343-TA-T | c.11958del | p.M3987* | Frameshift | 7/25 | - | 1 |
7-82545346-G-A | c.11956C>T | p.L3986F | Missense | 7/25 | - | 4 |
7-82545347-G-A | c.11955C>T | p.P3985= | Synonymous | 7/25 | - | 1 |
7-82545348-G-A | c.11954C>T | p.P3985L | Missense | 7/25 | - | 2 |
7-82545348-G-T | c.11954C>A | p.P3985H | Missense | 7/25 | - | 1 |
7-82545349-G-T | c.11953C>A | p.P3985T | Missense | 7/25 | - | 1 |
7-82545352-G-A | c.11950C>T | p.Q3984* | Nonsense | 7/25 | - | 1 |
7-82545353-G-A | c.11949C>T | p.N3983= | Synonymous | 7/25 | - | 1 |
7-82545357-C-A | c.11945G>T | p.R3982L | Missense | 7/25 | - | 1 |
7-82545357-C-T | c.11945G>A | p.R3982H | Missense | 7/25 | - | 5 |
7-82545358-G-A | c.11944C>T | p.R3982C | Missense | 7/25 | - | 7 |
7-82545362-C-T | c.11940G>A | p.V3980= | Synonymous | 7/25 | - | 2 |
7-82545364-C-T | c.11938G>A | p.V3980M | Missense | 7/25 | - | 1 |
7-82545366-T-G | c.11936A>C | p.E3979A | Missense | 7/25 | - | 2 |
7-82545367-C-T | c.11935G>A | p.E3979K | Missense | 7/25 | - | 3 |
7-82545368-A-G | c.11934T>C | p.Y3978= | Synonymous | 7/25 | - | 1 |
7-82545375-G-A | c.11927C>T | p.S3976L | Missense | 7/25 | - | 4 |
7-82545377-G-A | c.11925C>T | p.T3975= | Synonymous | 7/25 | - | 1 |
7-82545380-T-A | c.11922A>T | p.I3974= | Synonymous | 7/25 | - | 1 |
7-82545390-T-C | c.11912A>G | p.E3971G | Missense | 7/25 | - | 1 |
7-82545391-C-T | c.11911G>A | p.E3971K | Missense | 7/25 | - | 1 |
7-82545392-C-G | c.11910G>C | p.L3970F | Missense | 7/25 | - | 1 |
7-82545392-C-T | c.11910G>A | p.L3970= | Synonymous | 7/25 | - | 1 |
7-82545399-A-T | c.11903T>A | p.L3968* | Nonsense | 7/25 | - | 1 |
7-82545405-G-C | c.11897C>G | p.T3966S | Missense | 7/25 | - | 1 |
7-82545406-T-A | c.11896A>T | p.T3966S | Missense | 7/25 | - | 1 |
7-82545411-C-A | c.11891G>T | p.R3964L | Missense | 7/25 | - | 1 |
7-82545411-C-G | c.11891G>C | p.R3964P | Missense | 7/25 | - | 1 |
7-82545411-C-T | c.11891G>A | p.R3964Q | Missense | 7/25 | - | 1 |
7-82545412-G-A | c.11890C>T | p.R3964W | Missense | 7/25 | - | 4 |
7-82545413-T-A | c.11889A>T | p.P3963= | Synonymous | 7/25 | - | 1 |
7-82545413-T-C | c.11889A>G | p.P3963= | Synonymous | 7/25 | - | 1 |
7-82545413-T-G | c.11889A>C | p.P3963= | Synonymous | 7/25 | - | 1 |
7-82545418-T-C | c.11884A>G | p.K3962E | Missense | 7/25 | - | 1 |
7-82545420-T-C | c.11882A>G | p.Q3961R | Missense | 7/25 | - | 1 |
7-82545423-T-C | c.11879A>G | p.Q3960R | Missense | 7/25 | - | 1 |
7-82545425-T-C | c.11877A>G | p.I3959M | Missense | 7/25 | - | 4 |
7-82545426-A-G | c.11876T>C | p.I3959T | Missense | 7/25 | - | 1 |
7-82545428-C-A | c.11874G>T | p.V3958= | Synonymous | 7/25 | - | 3 |
7-82545428-C-G | c.11874G>C | p.V3958= | Synonymous | 7/25 | - | 3 |
7-82545428-C-T | c.11874G>A | p.V3958= | Synonymous | 7/25 | - | 3 |
7-82545430-C-T | c.11872G>A | p.V3958M | Missense | 7/25 | - | 1 |
7-82545431-C-G | c.11871G>C | p.M3957I | Missense | 7/25 | - | 1 |
7-82545432-A-G | c.11870T>C | p.M3957T | Missense | 7/25 | - | 1 |
7-82545434-C-T | c.11868G>A | p.M3956I | Missense | 7/25 | - | 1 |
7-82545439-G-A | c.11863C>T | p.Q3955* | Nonsense | 7/25 | - | 1 |
7-82545449-C-T | c.11853G>A | p.Q3951= | Synonymous | 7/25 | - | 4 |
7-82545451-G-A | c.11851C>T | p.Q3951* | Nonsense | 7/25 | - | 1 |
7-82545460-G-A | c.11842C>T | p.P3948S | Missense | 7/25 | - | 1 |
7-82545460-G-T | c.11842C>A | p.P3948T | Missense | 7/25 | - | 2 |
7-82545466-G-T | c.11836C>A | p.P3946T | Missense | 7/25 | - | 4 |
7-82545469-T-G | c.11833A>C | p.T3945P | Missense | 7/25 | - | 1 |
7-82545471-G-A | c.11831C>T | p.P3944L | Missense | 7/25 | - | 2 |
7-82545474-G-A | c.11828C>T | p.T3943I | Missense | 7/25 | - | 1 |
7-82545477-G-T | c.11825C>A | p.P3942H | Missense | 7/25 | - | 1 |
7-82545481-G-A | c.11821C>T | p.Q3941* | Nonsense | 7/25 | - | 2 |
7-82545481-G-C | c.11821C>G | p.Q3941E | Missense | 7/25 | - | 1 |
7-82545481-G-T | c.11821C>A | p.Q3941K | Missense | 7/25 | - | 1 |
7-82545485-T-C | c.11817A>G | p.Q3939= | Synonymous | 7/25 | - | 2 |
7-82545487-G-A | c.11815C>T | p.Q3939* | Nonsense | 7/25 | - | 2 |
7-82545504-G-GT | c.11797dup | p.T3933Nfs*47 | Frameshift | 7/25 | - | 1 |
7-82545508-C-A | c.11794G>T | p.A3932S | Missense | 7/25 | - | 1 |
7-82545510-A-T | c.11792T>A | p.V3931E | Missense | 7/25 | - | 4 |
7-82545516-T-A | c.11786A>T | p.Q3929L | Missense | 7/25 | - | 1 |
7-82545517-G-A | c.11785C>T | p.Q3929* | Nonsense | 7/25 | - | 2 |
7-82545518-G-A | c.11784C>T | p.F3928= | Synonymous | 7/25 | - | 1 |
7-82545522-G-A | c.11780C>T | p.T3927I | Missense | 7/25 | - | 1 |
7-82545523-T-C | c.11779A>G | p.T3927A | Missense | 7/25 | - | 4 |
7-82545527-C-T | c.11775G>A | p.Q3925= | Synonymous | 7/25 | - | 1 |
7-82545529-G-A | c.11773C>T | p.Q3925* | Nonsense | 7/25 | - | 1 |
7-82545535-G-A | c.11767C>T | p.Q3923* | Nonsense | 7/25 | - | 1 |
7-82545538-A-G | c.11764T>C | p.Y3922H | Missense | 7/25 | - | 1 |
7-82545540-G-T | c.11762C>A | p.P3921H | Missense | 7/25 | - | 2 |
7-82545541-G-A | c.11761C>T | p.P3921S | Missense | 7/25 | - | 1 |
7-82545542-T-G | c.11760A>C | p.S3920= | Synonymous | 7/25 | - | 1 |
7-82545542-TG-AA | c.11759_11760delinsTT | p.S3920F | Missense | 7/25 | - | 1 |
7-82545543-G-A | c.11759C>T | p.S3920L | Missense | 7/25 | - | 6 |
7-82545543-G-C | c.11759C>G | p.S3920* | Nonsense | 7/25 | - | 1 |
7-82545543-G-T | c.11759C>A | p.S3920* | Nonsense | 7/25 | - | 1 |
7-82545548-T-A | c.11754A>T | p.Q3918H | Missense | 7/25 | - | 4 |
7-82545548-T-C | c.11754A>G | p.Q3918= | Synonymous | 7/25 | - | 2 |
7-82545548-T-G | c.11754A>C | p.Q3918H | Missense | 7/25 | - | 4 |
7-82545552-T-G | c.11750A>C | p.Q3917P | Missense | 7/25 | - | 1 |
7-82545553-G-T | c.11749C>A | p.Q3917K | Missense | 7/25 | - | 3 |
7-82545563-A-C | c.11739T>G | p.T3913= | Synonymous | 7/25 | - | 3 |
7-82545563-A-G | c.11739T>C | p.T3913= | Synonymous | 7/25 | - | 1 |
7-82545563-A-T | c.11739T>A | p.T3913= | Synonymous | 7/25 | - | 1 |
7-82545565-T-A | c.11737A>T | p.T3913S | Missense | 7/25 | - | 1 |
7-82545566-T-A | c.11736A>T | p.Q3912H | Missense | 7/25 | - | 1 |
7-82545566-T-G | c.11736A>C | p.Q3912H | Missense | 7/25 | - | 3 |
7-82545568-G-A | c.11734C>T | p.Q3912* | Nonsense | 7/25 | - | 1 |
7-82545583-A-G | c.11719T>C | p.S3907P | Missense | 7/25 | - | 2 |
7-82545585-T-C | c.11717A>G | p.Q3906R | Missense | 7/25 | - | 1 |
7-82545586-G-T | c.11716C>A | p.Q3906K | Missense | 7/25 | - | 2 |
7-82545587-T-A | c.11715A>T | p.Q3905H | Missense | 7/25 | - | 1 |
7-82545587-T-C | c.11715A>G | p.Q3905= | Synonymous | 7/25 | - | 1 |
7-82545591-G-A | c.11711C>T | p.T3904I | Missense | 7/25 | - | 1 |
7-82545598-A-G | c.11704T>C | p.S3902P | Missense | 7/25 | - | 2 |
7-82545602-G-T | c.11700C>A | p.P3900= | Synonymous | 7/25 | - | 1 |
7-82545603-G-A | c.11699C>T | p.P3900L | Missense | 7/25 | - | 1 |
7-82545604-G-A | c.11698C>T | p.P3900S | Missense | 7/25 | - | 4 |
7-82545608-T-G | c.11694A>C | p.Q3898H | Missense | 7/25 | - | 1 |
7-82545611-G-A | c.11691C>T | p.T3897= | Synonymous | 7/25 | - | 1 |
7-82545612-G-C | c.11690C>G | p.T3897S | Missense | 7/25 | - | 1 |
7-82545613-T-A | c.11689A>T | p.T3897S | Missense | 7/25 | - | 2 |
7-82545615-G-A | c.11687C>T | p.P3896L | Missense | 7/25 | - | 1 |
7-82545616-G-A | c.11686C>T | p.P3896S | Missense | 7/25 | - | 5 |
7-82545618-A-G | c.11684T>C | p.L3895P | Missense | 7/25 | - | 1 |
7-82545621-G-A | c.11681C>T | p.A3894V | Missense | 7/25 | - | 1 |
7-82545622-C-T | c.11680G>A | p.A3894T | Missense | 7/25 | - | 1 |
7-82545623-A-T | c.11679T>A | p.P3893= | Synonymous | 7/25 | - | 1 |
7-82545625-G-T | c.11677C>A | p.P3893T | Missense | 7/25 | - | 1 |
7-82545626-G-A | c.11676C>T | p.S3892= | Synonymous | 7/25 | - | 1 |
7-82545627-G-A | c.11675C>T | p.S3892F | Missense | 7/25 | - | 5 |
7-82545627-G-T | c.11675C>A | p.S3892Y | Missense | 7/25 | - | 1 |
7-82545629-A-C | c.11673T>G | p.S3891= | Synonymous | 7/25 | - | 1 |
7-82545629-A-G | c.11673T>C | p.S3891= | Synonymous | 7/25 | - | 1 |
7-82545629-A-T | c.11673T>A | p.S3891= | Synonymous | 7/25 | - | 1 |
7-82545631-A-G | c.11671T>C | p.S3891P | Missense | 7/25 | - | 1 |
7-82545632-G-A | c.11670C>T | p.Y3890= | Synonymous | 7/25 | - | 2 |
7-82545635-C-G | c.11667G>C | p.Q3889H | Missense | 7/25 | - | 1 |
7-82545637-G-T | c.11665C>A | p.Q3889K | Missense | 7/25 | - | 1 |
7-82545647-G-A | c.11655C>T | p.Y3885= | Synonymous | 7/25 | - | 1 |
7-82545647-G-C | c.11655C>G | p.Y3885* | Nonsense | 7/25 | - | 1 |
7-82545647-G-T | c.11655C>A | p.Y3885* | Nonsense | 7/25 | - | 1 |
7-82545648-T-C | c.11654A>G | p.Y3885C | Missense | 7/25 | - | 1 |
7-82545650-A-C | c.11652T>G | p.P3884= | Synonymous | 7/25 | - | 2 |
7-82545650-A-G | c.11652T>C | p.P3884= | Synonymous | 7/25 | - | 2 |
7-82545650-A-T | c.11652T>A | p.P3884= | Synonymous | 7/25 | - | 4 |
7-82545652-G-T | c.11650C>A | p.P3884T | Missense | 7/25 | - | 3 |
7-82545657-G-A | c.11645C>T | p.T3882I | Missense | 7/25 | - | 1 |
7-82545657-G-C | c.11645C>G | p.T3882R | Missense | 7/25 | - | 1 |
7-82545660-G-A | c.11642C>T | p.P3881L | Missense | 7/25 | - | 1 |
7-82545660-G-C | c.11642C>G | p.P3881R | Missense | 7/25 | - | 5 |
7-82545663-G-T | c.11639C>A | p.P3880H | Missense | 7/25 | - | 2 |
7-82545664-G-A | c.11638C>T | p.P3880S | Missense | 7/25 | - | 2 |
7-82545666-A-C | c.11636T>G | p.V3879G | Missense | 7/25 | - | 1 |
7-82545668-T-A | c.11634A>T | p.L3878= | Synonymous | 7/25 | - | 1 |
7-82545668-T-C | c.11634A>G | p.L3878= | Synonymous | 7/25 | - | 1 |
7-82545668-T-G | c.11634A>C | p.L3878= | Synonymous | 7/25 | - | 1 |
7-82545670-G-A | c.11632C>T | p.L3878= | Synonymous | 7/25 | - | 1 |
7-82545669-A-G | c.11633T>C | p.L3878P | Missense | 7/25 | - | 1 |
7-82545669-A-T | c.11633T>A | p.L3878Q | Missense | 7/25 | - | 1 |
7-82545670-G-C | c.11632C>G | p.L3878V | Missense | 7/25 | - | 1 |
7-82545671-T-A | c.11631A>T | p.Q3877H | Missense | 7/25 | - | 1 |
7-82545671-T-C | c.11631A>G | p.Q3877= | Synonymous | 7/25 | - | 1 |
7-82545671-T-G | c.11631A>C | p.Q3877H | Missense | 7/25 | - | 2 |
7-82545672-T-G | c.11630A>C | p.Q3877P | Missense | 7/25 | - | 1 |
7-82545673-G-A | c.11629C>T | p.Q3877* | Nonsense | 7/25 | - | 1 |
7-82545675-G-A | c.11627C>T | p.S3876F | Missense | 7/25 | - | 1 |
7-82545676-A-C | c.11626T>G | p.S3876A | Missense | 7/25 | - | 2 |
7-82545677-T-A | c.11625A>T | p.E3875D | Missense | 7/25 | - | 1 |
7-82545677-T-G | c.11625A>C | p.E3875D | Missense | 7/25 | - | 2 |
7-82545679-C-T | c.11623G>A | p.E3875K | Missense | 7/25 | - | 3 |
7-82545686-G-A | c.11616C>T | p.T3872= | Synonymous | 7/25 | - | 3 |
7-82545686-GG-CA | c.11615_11616delinsTG | p.T3872M | Missense | 7/25 | - | 1 |
7-82545688-T-G | c.11614A>C | p.T3872P | Missense | 7/25 | - | 1 |
7-82545691-G-A | c.11611C>T | p.Q3871* | Nonsense | 7/25 | - | 1 |
7-82545693-G-T | c.11609C>A | p.P3870Q | Missense | 7/25 | - | 1 |
7-82545696-G-C | c.11606C>G | p.P3869R | Missense | 7/25 | - | 1 |
7-82545704-C-T | c.11598G>A | p.Q3866= | Synonymous | 7/25 | - | 4 |
7-82545706-G-A | c.11596C>T | p.Q3866* | Nonsense | 7/25 | - | 2 |
7-82545707-G-C | c.11595C>G | p.S3865R | Missense | 7/25 | - | 1 |
7-82545708-C-T | c.11594G>A | p.S3865N | Missense | 7/25 | - | 1 |
7-82545710-G-A | c.11592C>T | p.F3864= | Synonymous | 7/25 | - | 4 |
7-82545713-T-A | c.11589A>T | p.E3863D | Missense | 7/25 | - | 3 |
7-82545713-T-G | c.11589A>C | p.E3863D | Missense | 7/25 | - | 1 |
7-82545715-C-T | c.11587G>A | p.E3863K | Missense | 7/25 | - | 3 |
7-82545716-A-G | c.11586T>C | p.T3862= | Synonymous | 7/25 | - | 3 |
7-82545717-G-A | c.11585C>T | p.T3862I | Missense | 7/25 | - | 2 |
7-82545721-G-A | c.11581C>T | p.Q3861* | Nonsense | 7/25 | - | 1 |
7-82545721-G-T | c.11581C>A | p.Q3861K | Missense | 7/25 | - | 1 |
7-82545723-G-A | c.11579C>T | p.P3860L | Missense | 7/25 | - | 2 |
7-82545732-C-G | c.11570G>C | p.R3857T | Missense | 7/25 | - | 2 |
7-82545732-C-T | c.11570G>A | p.R3857K | Missense | 7/25 | - | 6 |
7-82545733-T-C | c.11569A>G | p.R3857G | Missense | 7/25 | - | 2 |
7-82545733-T-G | c.11569A>C | p.R3857= | Synonymous | 7/25 | - | 2 |
7-82545735-G-C | c.11567C>G | p.P3856R | Missense | 7/25 | - | 1 |
7-82545735-G-T | c.11567C>A | p.P3856Q | Missense | 7/25 | - | 1 |
7-82545738-C-T | c.11564G>A | p.R3855Q | Missense | 7/25 | - | 2 |
7-82545739-G-A | c.11563C>T | p.R3855* | Nonsense | 7/25 | - | 2 |
7-82545739-G-C | c.11563C>G | p.R3855G | Missense | 7/25 | - | 2 |
7-82545747-C-A | c.11555G>T | p.G3852V | Missense | 7/25 | - | 2 |
7-82545750-T-A | c.11552A>T | p.H3851L | Missense | 7/25 | - | 1 |
7-82545752-C-T | c.11550G>A | p.Q3850= | Synonymous | 7/25 | - | 3 |
7-82545755-A-G | c.11547T>C | p.S3849= | Synonymous | 7/25 | - | 2 |
7-82545755-A-T | c.11547T>A | p.S3849R | Missense | 7/25 | - | 1 |
7-82545756-C-T | c.11546G>A | p.S3849N | Missense | 7/25 | - | 2 |
7-82545760-C-G | c.11542G>C | p.E3848Q | Missense | 7/25 | - | 1 |
7-82545765-C-G | c.11537G>C | p.R3846P | Missense | 7/25 | - | 3 |
7-82545765-C-T | c.11537G>A | p.R3846Q | Missense | 7/25 | - | 6 |
7-82545766-G-A | c.11536C>T | p.R3846* | Nonsense | 7/25 | - | 1 |
7-82545766-G-T | c.11536C>A | p.R3846= | Synonymous | 7/25 | - | 1 |
7-82545767-G-A | c.11535C>T | p.T3845= | Synonymous | 7/25 | - | 2 |
7-82545769-T-G | c.11533A>C | p.T3845P | Missense | 7/25 | - | 1 |
7-82545771-G-A | c.11531C>T | p.P3844L | Missense | 7/25 | - | 1 |
7-82545773-TCT-ATG | c.11527_11529delinsCAT | p.R3843H | Missense | 7/25 | - | 1 |
7-82545774-C-A | c.11528G>T | p.R3843I | Missense | 7/25 | - | 2 |
7-82545774-C-T | c.11528G>A | p.R3843K | Missense | 7/25 | - | 1 |
7-82545775-T-G | c.11527A>C | p.R3843= | Synonymous | 7/25 | - | 2 |
7-82545775-T-TACCTACCCA | c.11526_11527insTGGGTAGGT | p.T3842_R3843insWVG | InFrameInsertion | 7/25 | - | 1 |
7-82545784-T-G | c.11518A>C | p.S3840R | Missense | 7/25 | - | 1 |
7-82545783-C-T | c.11519G>A | p.S3840N | Missense | 7/25 | - | 1 |
7-82545788-T-C | c.11514A>G | p.E3838= | Synonymous | 7/25 | - | 1 |
7-82545788-T-G | c.11514A>C | p.E3838D | Missense | 7/25 | - | 1 |
7-82545790-C-T | c.11512G>A | p.E3838K | Missense | 7/25 | - | 1 |
7-82545792-C-T | c.11510G>A | p.S3837N | Missense | 7/25 | - | 2 |
7-82545794-G-A | c.11508C>T | p.D3836= | Synonymous | 7/25 | - | 1 |
7-82545798-G-A | c.11504C>T | p.S3835F | Missense | 7/25 | - | 1 |
7-82545802-T-C | c.11500A>G | p.M3834V | Missense | 7/25 | - | 1 |
7-82545804-T-A | c.11498A>T | p.Y3833F | Missense | 7/25 | - | 1 |
7-82545809-A-G | c.11493T>C | p.R3831= | Synonymous | 7/25 | - | 2 |
7-82545810-C-T | c.11492G>A | p.R3831H | Missense | 7/25 | - | 1 |
7-82545811-G-A | c.11491C>T | p.R3831C | Missense | 7/25 | - | 13 |
7-82545811-G-T | c.11491C>A | p.R3831S | Missense | 7/25 | - | 1 |
7-82545813-T-C | c.11489A>G | p.D3830G | Missense | 7/25 | - | 1 |
7-82545814-C-T | c.11488G>A | p.D3830N | Missense | 7/25 | - | 5 |
7-82545815-C-T | c.11487G>A | p.E3829= | Synonymous | 7/25 | - | 3 |
7-82545817-C-T | c.11485G>A | p.E3829K | Missense | 7/25 | - | 2 |
7-82545820-C-G | c.11482G>C | p.A3828P | Missense | 7/25 | - | 1 |
7-82545822-A-T | c.11480T>A | p.V3827E | Missense | 7/25 | - | 1 |
7-82545825-C-T | c.11477G>A | p.G3826E | Missense | 7/25 | - | 4 |
7-82545826-C-A | c.11476G>T | p.G3826* | Nonsense | 7/25 | - | 1 |
7-82545826-C-G | c.11476G>C | p.G3826R | Missense | 7/25 | - | 1 |
7-82545826-C-T | c.11476G>A | p.G3826R | Missense | 7/25 | - | 1 |
7-82545832-G-A | c.11470C>T | p.L3824F | Missense | 7/25 | - | 2 |
7-82545838-C-T | c.11464G>A | p.A3822T | Missense | 7/25 | - | 1 |
7-82545840-C-T | c.11462G>A | p.R3821Q | Missense | 7/25 | - | 3 |
7-82545843-T-A | c.11459A>T | p.E3820V | Missense | 7/25 | - | 1 |
7-82545844-C-T | c.11458G>A | p.E3820K | Missense | 7/25 | - | 3 |
7-82545846-C-T | c.11456G>A | p.R3819K | Missense | 7/25 | - | 1 |
7-82545849-T-G | c.11453A>C | p.K3818T | Missense | 7/25 | - | 6 |
7-82545855-C-T | c.11447G>A | p.R3816K | Missense | 7/25 | - | 2 |
7-82545859-C-T | c.11443G>A | p.E3815K | Missense | 7/25 | - | 1 |
7-82545860-C-A | c.11442G>T | p.K3814N | Missense | 7/25 | - | 1 |
7-82545860-C-T | c.11442G>A | p.K3814= | Synonymous | 7/25 | - | 3 |
7-82545869-G-A | c.11433C>T | p.A3811= | Synonymous | 7/25 | - | 1 |
7-82545874-C-G | c.11428G>C | p.E3810Q | Missense | 7/25 | - | 2 |
7-82545878-C-A | c.11424G>T | p.R3808S | Missense | 7/25 | - | 4 |
7-82545878-C-G | c.11424G>C | p.R3808S | Missense | 7/25 | - | 3 |
7-82545878-C-T | c.11424G>A | p.R3808= | Synonymous | 7/25 | - | 2 |
7-82545880-T-G | c.11422A>C | p.R3808= | Synonymous | 7/25 | - | 1 |
7-82545880-T-A | c.11422A>T | p.R3808W | Missense | 7/25 | - | 1 |
7-82545881-C-T | c.11421G>A | p.R3807= | Synonymous | 7/25 | - | 1 |
7-82545891-C-T | c.11411G>A | p.G3804E | Missense | 7/25 | - | 1 |
7-82545892-C-G | c.11410G>C | p.G3804R | Missense | 7/25 | - | 1 |
7-82545892-C-T | c.11410G>A | p.G3804R | Missense | 7/25 | - | 3 |
7-82545893-C-T | c.11409G>A | p.M3803I | Missense | 7/25 | - | 2 |
7-82545898-C-G | c.11404G>C | p.E3802Q | Missense | 7/25 | - | 1 |
7-82545898-C-T | c.11404G>A | p.E3802K | Missense | 7/25 | - | 8 |
7-82545900-AG-GA | c.11401_11402delinsTC | p.L3801S | Missense | 7/25 | - | 1 |
7-82545901-G-A | c.11401C>T | p.L3801= | Synonymous | 7/25 | - | 2 |
7-82545901-G-T | c.11401C>A | p.L3801M | Missense | 7/25 | - | 1 |
7-82545902-G-A | c.11400C>T | p.Y3800= | Synonymous | 7/25 | - | 3 |
7-82545902-G-C | c.11400C>G | p.Y3800* | Nonsense | 7/25 | - | 1 |
7-82545902-G-T | c.11400C>A | p.Y3800* | Nonsense | 7/25 | - | 2 |
7-82545904-A-C | c.11398T>G | p.Y3800D | Missense | 7/25 | - | 2 |
7-82545905-T-A | c.11397A>T | p.R3799= | Synonymous | 7/25 | - | 4 |
7-82545905-T-C | c.11397A>G | p.R3799= | Synonymous | 7/25 | - | 1 |
7-82545906-C-T | c.11396G>A | p.R3799Q | Missense | 7/25 | - | 5 |
7-82545907-G-A | c.11395C>T | p.R3799* | Nonsense | 7/25 | - | 4 |
7-82545916-C-A | c.11386G>T | p.A3796S | Missense | 7/25 | - | 1 |
7-82545923-C-A | c.11379G>T | p.E3793D | Missense | 7/25 | - | 1 |
7-82545923-C-G | c.11379G>C | p.E3793D | Missense | 7/25 | - | 1 |
7-82545923-C-T | c.11379G>A | p.E3793= | Synonymous | 7/25 | - | 2 |
7-82545925-C-T | c.11377G>A | p.E3793K | Missense | 7/25 | - | 3 |
7-82545927-T-C | c.11375A>G | p.K3792R | Missense | 7/25 | - | 1 |
7-82545927-T-G | c.11375A>C | p.K3792T | Missense | 7/25 | - | 1 |
7-82545928-T-C | c.11374A>G | p.K3792E | Missense | 7/25 | - | 1 |
7-82545934-C-A | c.11368G>T | p.E3790* | Nonsense | 7/25 | - | 1 |
7-82545938-A-C | c.11364T>G | p.D3788E | Missense | 7/25 | - | 1 |
7-82545938-A-T | c.11364T>A | p.D3788E | Missense | 7/25 | - | 2 |
7-82545940-C-A | c.11362G>T | p.D3788Y | Missense | 7/25 | - | 1 |
7-82545940-C-G | c.11362G>C | p.D3788H | Missense | 7/25 | - | 2 |
7-82545940-C-T | c.11362G>A | p.D3788N | Missense | 7/25 | - | 1 |
7-82545945-T-G | c.11357A>C | p.E3786A | Missense | 7/25 | - | 2 |
7-82545949-C-T | c.11353G>A | p.A3785T | Missense | 7/25 | - | 1 |
7-82545955-T-A | c.11347A>T | p.K3783* | Nonsense | 7/25 | - | 1 |
7-82545960-C-T | c.11342G>A | p.R3781Q | Missense | 7/25 | - | 8 |
7-82545961-G-A | c.11341C>T | p.R3781* | Nonsense | 7/25 | - | 7 |
7-82545964-G-A | c.11338C>T | p.L3780F | Missense | 7/25 | - | 1 |
7-82545969-G-A | c.11333C>T | p.A3778V | Missense | 7/25 | - | 2 |
7-82545970-C-T | c.11332G>A | p.A3778T | Missense | 7/25 | - | 1 |
7-82545974-C-G | c.11328G>C | p.E3776D | Missense | 7/25 | - | 1 |
7-82545976-C-CAG | c.11325_11326insCT | p.E3776Lfs*39 | Frameshift | 7/25 | - | 2 |
7-82545976-C-T | c.11326G>A | p.E3776K | Missense | 7/25 | - | 2 |
7-82545977-C-T | c.11325G>A | p.R3775= | Synonymous | 7/25 | - | 1 |
7-82545978-C-T | c.11324G>A | p.R3775K | Missense | 7/25 | - | 2 |
7-82545982-C-T | c.11320G>A | p.E3774K | Missense | 7/25 | - | 7 |
7-82545988-G-C | c.11314C>G | p.L3772V | Missense | 7/25 | - | 1 |
7-82545994-G-A | c.11308C>T | p.L3770F | Missense | 7/25 | - | 1 |
7-82545996-T-A | c.11306A>T | p.E3769V | Missense | 7/25 | - | 2 |
7-82545996-T-C | c.11306A>G | p.E3769G | Missense | 7/25 | - | 1 |
7-82545999-TC-T | c.11303del | p.R3768Kfs*46 | Frameshift | 7/25 | - | 1 |
7-82546002-T-A | c.11300A>T | p.D3767V | Missense | 7/25 | - | 1 |
7-82546002-T-C | c.11300A>G | p.D3767G | Missense | 7/25 | - | 1 |
7-82546003-C-T | c.11299G>A | p.D3767N | Missense | 7/25 | - | 2 |
7-82546004-T-C | c.11298A>G | p.I3766M | Missense | 7/25 | - | 1 |
7-82546006-T-A | c.11296A>T | p.I3766L | Missense | 7/25 | - | 1 |
7-82546006-T-G | c.11296A>C | p.I3766L | Missense | 7/25 | - | 2 |
7-82546012-G-A | c.11290C>T | p.Q3764* | Nonsense | 7/25 | - | 6 |
7-82546013-G-A | c.11289C>T | p.L3763= | Synonymous | 7/25 | - | 2 |
7-82546015-G-A | c.11287C>T | p.L3763F | Missense | 7/25 | - | 2 |
7-82546017-A-G | c.11285T>C | p.I3762T | Missense | 7/25 | - | 1 |
7-82546021-T-G | c.11281A>C | p.K3761Q | Missense | 7/25 | - | 2 |
7-82546024-C-A | c.11278G>T | p.A3760S | Missense | 7/25 | - | 1 |
7-82546026-C-T | c.11276G>A | p.R3759Q | Missense | 7/25 | - | 7 |
7-82546027-G-A | c.11275C>T | p.R3759* | Nonsense | 7/25 | - | 1 |
7-82546027-G-T | c.11275C>A | p.R3759= | Synonymous | 7/25 | - | 1 |
7-82546033-T-C | c.11269A>G | p.M3757V | Missense | 7/25 | - | 3 |
7-82546039-T-A | c.11263A>T | p.N3755Y | Missense | 7/25 | - | 1 |
7-82546040-G-A | c.11262C>T | p.T3754= | Synonymous | 7/25 | - | 1 |
7-82546040-G-C | c.11262C>G | p.T3754= | Synonymous | 7/25 | - | 1 |
7-82546040-G-T | c.11262C>A | p.T3754= | Synonymous | 7/25 | - | 1 |
7-82546041-G-A | c.11261C>T | p.T3754I | Missense | 7/25 | - | 2 |
7-82546041-GT-G | c.11260del | p.T3754Pfs*13 | Frameshift | 7/25 | - | 1 |
7-82546044-C-T | c.11258G>A | p.R3753K | Missense | 7/25 | - | 1 |
7-82546045-T-A | c.11257A>T | p.R3753* | Nonsense | 7/25 | - | 1 |
7-82546047-C-G | c.11255G>C | p.C3752S | Missense | 7/25 | - | 1 |
7-82546048-A-T | c.11254T>A | p.C3752S | Missense | 7/25 | - | 3 |
7-82546052-CCT-ATG | c.11248_11250delinsCAT | p.R3750H | Missense | 7/25 | - | 1 |
7-82546052-C-T | c.11250G>A | p.R3750= | Synonymous | 7/25 | - | 3 |
7-82546054-T-G | c.11248A>C | p.R3750= | Synonymous | 7/25 | - | 1 |
7-82546053-C-T | c.11249G>A | p.R3750K | Missense | 7/25 | - | 1 |
7-82546056-C-T | c.11246G>A | p.R3749K | Missense | 7/25 | - | 2 |
7-82546058-C-A | c.11244G>T | p.R3748S | Missense | 7/25 | - | 3 |
7-82546058-C-G | c.11244G>C | p.R3748S | Missense | 7/25 | - | 2 |
7-82546060-T-A | c.11242A>T | p.R3748W | Missense | 7/25 | - | 1 |
7-82546062-G-A | c.11240C>T | p.S3747F | Missense | 7/25 | - | 6 |
7-82546065-A-C | c.11237T>G | p.V3746G | Missense | 7/25 | - | 1 |
7-82546065-A-G | c.11237T>C | p.V3746A | Missense | 7/25 | - | 2 |
7-82546068-G-T | c.11234C>A | p.T3745K | Missense | 7/25 | - | 3 |
7-82546070-G-A | c.11232C>T | p.G3744= | Synonymous | 7/25 | - | 1 |
7-82546072-C-A | c.11230G>T | p.G3744C | Missense | 7/25 | - | 1 |
7-82546072-C-T | c.11230G>A | p.G3744S | Missense | 7/25 | - | 1 |
7-82546073-C-A | c.11229G>T | p.M3743I | Missense | 7/25 | - | 1 |
7-82546075-T-A | c.11227A>T | p.M3743L | Missense | 7/25 | - | 1 |
7-82546075-T-C | c.11227A>G | p.M3743V | Missense | 7/25 | - | 1 |
7-82546075-T-G | c.11227A>C | p.M3743L | Missense | 7/25 | - | 1 |
7-82546077-G-C | c.11225C>G | p.T3742R | Missense | 7/25 | - | 1 |
7-82546079-G-C | c.11223C>G | p.S3741R | Missense | 7/25 | - | 1 |
7-82546079-G-T | c.11223C>A | p.S3741R | Missense | 7/25 | - | 2 |
7-82546081-T-G | c.11221A>C | p.S3741R | Missense | 7/25 | - | 1 |
7-82546080-C-T | c.11222G>A | p.S3741N | Missense | 7/25 | - | 2 |
7-82546081-T-C | c.11221A>G | p.S3741G | Missense | 7/25 | - | 3 |
7-82546082-G-A | c.11220C>T | p.F3740= | Synonymous | 7/25 | - | 1 |
7-82546089-G-T | c.11213C>A | p.S3738Y | Missense | 7/25 | - | 1 |
7-82546091-T-A | c.11211A>T | p.Q3737H | Missense | 7/25 | - | 5 |
7-82546091-T-G | c.11211A>C | p.Q3737H | Missense | 7/25 | - | 1 |
7-82546095-G-C | c.11207C>G | p.T3736S | Missense | 7/25 | - | 1 |
7-82546096-T-A | c.11206A>T | p.T3736S | Missense | 7/25 | - | 1 |
7-82546098-C-T | c.11204G>A | p.G3735E | Missense | 7/25 | - | 1 |
7-82546099-C-A | c.11203G>T | p.G3735* | Nonsense | 7/25 | - | 1 |
7-82546104-G-A | c.11198C>T | p.S3733F | Missense | 7/25 | - | 10 |
7-82546104-G-T | c.11198C>A | p.S3733Y | Missense | 7/25 | - | 3 |
7-82546105-A-G | c.11197T>C | p.S3733P | Missense | 7/25 | - | 1 |
7-82546111-C-A | c.11191G>T | p.E3731* | Nonsense | 7/25 | - | 2 |
7-82546111-C-T | c.11191G>A | p.E3731K | Missense | 7/25 | - | 2 |
7-82546114-C-G | c.11188G>C | p.E3730Q | Missense | 7/25 | - | 2 |
7-82546117-G-A | c.11185C>T | p.P3729S | Missense | 7/25 | - | 4 |
7-82546122-G-A | c.11180C>T | p.P3727L | Missense | 7/25 | - | 3 |
7-82546123-G-A | c.11179C>T | p.P3727S | Missense | 7/25 | - | 6 |
7-82546130-C-A | c.11172G>T | p.L3724= | Synonymous | 7/25 | - | 1 |
7-82546130-C-G | c.11172G>C | p.L3724= | Synonymous | 7/25 | - | 1 |
7-82546130-C-T | c.11172G>A | p.L3724= | Synonymous | 7/25 | - | 1 |
7-82546132-G-A | c.11170C>T | p.L3724= | Synonymous | 7/25 | - | 1 |
7-82546131-A-T | c.11171T>A | p.L3724Q | Missense | 7/25 | - | 1 |
7-82546137-C-A | c.11165G>T | p.R3722I | Missense | 7/25 | - | 1 |
7-82546138-T-C | c.11164A>G | p.R3722G | Missense | 7/25 | - | 1 |
7-82546143-A-C | c.11159T>G | p.V3720G | Missense | 7/25 | - | 5 |
7-82546144-C-T | c.11158G>A | p.V3720I | Missense | 7/25 | - | 5 |
7-82546146-T-G | c.11156A>C | p.K3719T | Missense | 7/25 | - | 2 |
7-82546144-C-CT | c.11157dup | p.V3720Sfs*2 | Frameshift | 7/25 | - | 4 |
7-82546153-G-A | c.11149C>T | p.Q3717* | Nonsense | 7/25 | - | 1 |
7-82546153-G-C | c.11149C>G | p.Q3717E | Missense | 7/25 | - | 1 |
7-82546155-G-T | c.11147C>A | p.A3716D | Missense | 7/25 | - | 1 |
7-82546159-C-A | c.11143G>T | p.G3715* | Nonsense | 7/25 | - | 1 |
7-82546170-A-G | c.11132T>C | p.M3711T | Missense | 7/25 | - | 2 |
7-82546171-T-C | c.11131A>G | p.M3711V | Missense | 7/25 | - | 1 |
7-82546172-G-A | c.11130C>T | p.T3710= | Synonymous | 7/25 | - | 4 |
7-82546174-T-C | c.11128A>G | p.T3710A | Missense | 7/25 | - | 1 |
7-82546178-AG-TT | c.11123_11124delinsAA | p.S3708* | Nonsense | 7/25 | - | 1 |
7-82546182-C-G | c.11120G>C | p.G3707A | Missense | 7/25 | - | 1 |
7-82546282-C-A | c.11113-93G>T | - | IntronicSNV | - | 6/24 | 2 |
7-82548121-G-A | c.11113-1932C>T | - | IntronicSNV | - | 6/24 | 1 |
7-82555669-A-T | c.11113-9480T>A | - | IntronicSNV | - | 6/24 | 1 |
7-82557161-T-C | c.11113-10972A>G | - | IntronicSNV | - | 6/24 | 2 |
7-82557228-G-A | c.11113-11039C>T | - | IntronicSNV | - | 6/24 | 1 |
7-82561324-T-C | c.11113-15135A>G | - | IntronicSNV | - | 6/24 | 3 |
7-82562340-G-A | c.11113-16151C>T | - | IntronicSNV | - | 6/24 | 1 |
7-82563111-A-G | c.11112+15681T>C | - | IntronicSNV | - | 6/24 | 2 |
7-82563482-G-C | c.11112+15310C>G | - | IntronicSNV | - | 6/24 | 1 |
7-82563516-C-G | c.11112+15276G>C | - | IntronicSNV | - | 6/24 | 3 |
7-82568978-G-T | c.11112+9814C>A | - | IntronicSNV | - | 6/24 | 1 |
7-82569657-G-A | c.11112+9135C>T | - | IntronicSNV | - | 6/24 | 1 |
7-82573098-T-C | c.11112+5694A>G | - | IntronicSNV | - | 6/24 | 1 |
7-82578791-C-A | c.11112+1G>T | - | IntronicSNV | - | 6/24 | 1 |
7-82578791-C-G | c.11112+1G>C | - | IntronicSNV | - | 6/24 | 1 |
7-82578791-C-T | c.11112+1G>A | - | IntronicSNV | - | 6/24 | 1 |
7-82578792-C-A | c.11112G>T | p.T3704= | Synonymous | 6/25 | - | 1 |
7-82578793-G-A | c.11111C>T | p.T3704M | Missense | 6/25 | - | 13 |
7-82578797-A-G | c.11107T>C | p.Y3703H | Missense | 6/25 | - | 1 |
7-82578799-C-A | c.11105G>T | p.G3702V | Missense | 6/25 | - | 1 |
7-82578799-C-T | c.11105G>A | p.G3702D | Missense | 6/25 | - | 3 |
7-82578800-C-T | c.11104G>A | p.G3702S | Missense | 6/25 | - | 1 |
7-82578801-C-G | c.11103G>C | p.E3701D | Missense | 6/25 | - | 1 |
7-82578801-C-T | c.11103G>A | p.E3701= | Synonymous | 6/25 | - | 1 |
7-82578803-C-A | c.11101G>T | p.E3701* | Nonsense | 6/25 | - | 1 |
7-82578803-C-T | c.11101G>A | p.E3701K | Missense | 6/25 | - | 7 |
7-82578804-G-A | c.11100C>T | p.T3700= | Synonymous | 6/25 | - | 1 |
7-82578806-T-C | c.11098A>G | p.T3700A | Missense | 6/25 | - | 2 |
7-82578809-A-G | c.11095T>C | p.Y3699H | Missense | 6/25 | - | 2 |
7-82578812-G-A | c.11092C>T | p.Q3698* | Nonsense | 6/25 | - | 2 |
7-82578814-A-T | c.11090T>A | p.F3697Y | Missense | 6/25 | - | 1 |
7-82578820-G-A | c.11084C>T | p.A3695V | Missense | 6/25 | - | 4 |
7-82578821-C-T | c.11083G>A | p.A3695T | Missense | 6/25 | - | 1 |
7-82578822-C-A | c.11082G>T | p.R3694S | Missense | 6/25 | - | 2 |
7-82578822-C-G | c.11082G>C | p.R3694S | Missense | 6/25 | - | 1 |
7-82578822-C-T | c.11082G>A | p.R3694= | Synonymous | 6/25 | - | 1 |
7-82578824-T-G | c.11080A>C | p.R3694= | Synonymous | 6/25 | - | 1 |
7-82578826-G-A | c.11078C>T | p.S3693F | Missense | 6/25 | - | 3 |
7-82578828-A-C | c.11076T>G | p.S3692R | Missense | 6/25 | - | 4 |
7-82578828-A-T | c.11076T>A | p.S3692R | Missense | 6/25 | - | 4 |
7-82578830-T-G | c.11074A>C | p.S3692R | Missense | 6/25 | - | 8 |
7-82578833-C-T | c.11071G>A | p.E3691K | Missense | 6/25 | - | 13 |
7-82578834-G-A | c.11070C>T | p.D3690= | Synonymous | 6/25 | - | 1 |
7-82578839-C-T | c.11065G>A | p.A3689T | Missense | 6/25 | - | 1 |
7-82578843-T-G | c.11061A>C | p.P3687= | Synonymous | 6/25 | - | 1 |
7-82578845-G-A | c.11059C>T | p.P3687S | Missense | 6/25 | - | 1 |
7-82578855-C-T | c.11049G>A | p.K3683= | Synonymous | 6/25 | - | 2 |
7-82578856-T-C | c.11048A>G | p.K3683R | Missense | 6/25 | - | 2 |
7-82578856-T-G | c.11048A>C | p.K3683T | Missense | 6/25 | - | 1 |
7-82578863-C-G | c.11041G>C | p.D3681H | Missense | 6/25 | - | 2 |
7-82578863-C-T | c.11041G>A | p.D3681N | Missense | 6/25 | - | 3 |
7-82578866-A-T | c.11038T>A | p.S3680T | Missense | 6/25 | - | 1 |
7-82578867-C-A | c.11037G>T | p.M3679I | Missense | 6/25 | - | 1 |
7-82578872-A-T | c.11032T>A | p.S3678T | Missense | 6/25 | - | 1 |
7-82578874-C-T | c.11030G>A | p.R3677H | Missense | 6/25 | - | 4 |
7-82578875-G-A | c.11029C>T | p.R3677C | Missense | 6/25 | - | 3 |
7-82578878-G-A | c.11026C>T | p.Q3676* | Nonsense | 6/25 | - | 1 |
7-82578878-G-C | c.11026C>G | p.Q3676E | Missense | 6/25 | - | 1 |
7-82578880-A-G | c.11024T>C | p.M3675T | Missense | 6/25 | - | 1 |
7-82578881-T-C | c.11023A>G | p.M3675V | Missense | 6/25 | - | 1 |
7-82578882-C-T | c.11022G>A | p.M3674I | Missense | 6/25 | - | 1 |
7-82578883-A-G | c.11021T>C | p.M3674T | Missense | 6/25 | - | 1 |
7-82578885-C-T | c.11019G>A | p.K3673= | Synonymous | 6/25 | - | 1 |
7-82578892-G-A | c.11012C>T | p.T3671I | Missense | 6/25 | - | 1 |
7-82578892-G-C | c.11012C>G | p.T3671R | Missense | 6/25 | - | 1 |
7-82578893-T-C | c.11011A>G | p.T3671A | Missense | 6/25 | - | 1 |
7-82578894-C-T | c.11010G>A | p.K3670= | Synonymous | 6/25 | - | 1 |
7-82578899-G-A | c.11005C>T | p.P3669S | Missense | 6/25 | - | 1 |
7-82578904-G-A | c.11000C>T | p.A3667V | Missense | 6/25 | - | 2 |
7-82578905-C-A | c.10999G>T | p.A3667S | Missense | 6/25 | - | 1 |
7-82578909-G-A | c.10995C>T | p.P3665= | Synonymous | 6/25 | - | 4 |
7-82578909-G-C | c.10995C>G | p.P3665= | Synonymous | 6/25 | - | 1 |
7-82578909-G-T | c.10995C>A | p.P3665= | Synonymous | 6/25 | - | 1 |
7-82578911-G-A | c.10993C>T | p.P3665S | Missense | 6/25 | - | 3 |
7-82578913-AC-TT | c.10990_10991delinsAA | p.V3664N | Missense | 6/25 | - | 2 |
7-82578913-A-G | c.10991T>C | p.V3664A | Missense | 6/25 | - | 1 |
7-82578913-A-T | c.10991T>A | p.V3664D | Missense | 6/25 | - | 1 |
7-82578914-C-A | c.10990delinsT | p.V3664F | Missense | 6/25 | - | 1 |
7-82578914-C-T | c.10990G>A | p.V3664I | Missense | 6/25 | - | 2 |
7-82578917-T-C | c.10987A>G | p.K3663E | Missense | 6/25 | - | 1 |
7-82578924-A-G | c.10980T>C | p.D3660= | Synonymous | 6/25 | - | 1 |
7-82578926-C-T | c.10978G>A | p.D3660N | Missense | 6/25 | - | 4 |
7-82578936-T-A | c.10968A>T | p.V3656= | Synonymous | 6/25 | - | 1 |
7-82578938-C-A | c.10966G>T | p.V3656L | Missense | 6/25 | - | 1 |
7-82578939-T-A | c.10965A>T | p.K3655N | Missense | 6/25 | - | 3 |
7-82578939-T-G | c.10965A>C | p.K3655N | Missense | 6/25 | - | 2 |
7-82578940-T-G | c.10964A>C | p.K3655T | Missense | 6/25 | - | 1 |
7-82578941-T-C | c.10963A>G | p.K3655E | Missense | 6/25 | - | 1 |
7-82578942-C-T | c.10962G>A | p.Q3654= | Synonymous | 6/25 | - | 1 |
7-82578944-G-A | c.10960C>T | p.Q3654* | Nonsense | 6/25 | - | 1 |
7-82578946-G-A | c.10958C>T | p.P3653L | Missense | 6/25 | - | 5 |
7-82578947-G-A | c.10957C>T | p.P3653S | Missense | 6/25 | - | 1 |
7-82578948-A-G | c.10956T>C | p.S3652= | Synonymous | 6/25 | - | 1 |
7-82578948-A-T | c.10956T>A | p.S3652R | Missense | 6/25 | - | 1 |
7-82578950-T-C | c.10954A>G | p.S3652G | Missense | 6/25 | - | 2 |
7-82578953-T-C | c.10951A>G | p.I3651V | Missense | 6/25 | - | 1 |
7-82578954-A-G | c.10950T>C | p.D3650= | Synonymous | 6/25 | - | 1 |
7-82578956-C-G | c.10948G>C | p.D3650H | Missense | 6/25 | - | 3 |
7-82578956-C-T | c.10948G>A | p.D3650N | Missense | 6/25 | - | 8 |
7-82578962-G-A | c.10942C>T | p.P3648S | Missense | 6/25 | - | 5 |
7-82578963-G-A | c.10941C>T | p.L3647= | Synonymous | 6/25 | - | 3 |
7-82578963-G-C | c.10941C>G | p.L3647= | Synonymous | 6/25 | - | 1 |
7-82578963-G-T | c.10941C>A | p.L3647= | Synonymous | 6/25 | - | 1 |
7-82578968-G-T | c.10936C>A | p.P3646T | Missense | 6/25 | - | 1 |
7-82578973-T-C | c.10931A>G | p.E3644G | Missense | 6/25 | - | 1 |
7-82578974-C-T | c.10930G>A | p.E3644K | Missense | 6/25 | - | 8 |
7-82578977-A-C | c.10927T>G | p.Y3643D | Missense | 6/25 | - | 1 |
7-82578977-A-G | c.10927T>C | p.Y3643H | Missense | 6/25 | - | 3 |
7-82578979-G-A | c.10925C>T | p.P3642L | Missense | 6/25 | - | 1 |
7-82578980-G-A | c.10924C>T | p.P3642S | Missense | 6/25 | - | 1 |
7-82578982-A-T | c.10922T>A | p.V3641E | Missense | 6/25 | - | 1 |
7-82578983-C-A | c.10921G>T | p.V3641L | Missense | 6/25 | - | 1 |
7-82578986-A-G | c.10918T>C | p.F3640L | Missense | 6/25 | - | 1 |
7-82578992-A-G | c.10912T>C | p.S3638P | Missense | 6/25 | - | 2 |
7-82578994-T-A | c.10910A>T | p.E3637V | Missense | 6/25 | - | 1 |
7-82579001-C-T | c.10903G>A | p.A3635T | Missense | 6/25 | - | 2 |
7-82579002-T-G | c.10902A>C | p.K3634N | Missense | 6/25 | - | 1 |
7-82579003-T-C | c.10901A>G | p.K3634R | Missense | 6/25 | - | 2 |
7-82579004-T-G | c.10900A>C | p.K3634Q | Missense | 6/25 | - | 1 |
7-82579009-G-A | c.10895C>T | p.P3632L | Missense | 6/25 | - | 1 |
7-82579010-G-C | c.10894C>G | p.P3632A | Missense | 6/25 | - | 1 |
7-82579010-G-T | c.10894C>A | p.P3632T | Missense | 6/25 | - | 2 |
7-82579012-G-A | c.10892C>T | p.S3631L | Missense | 6/25 | - | 5 |
7-82579018-G-A | c.10886C>T | p.P3629L | Missense | 6/25 | - | 2 |
7-82579019-G-T | c.10885C>A | p.P3629T | Missense | 6/25 | - | 1 |
7-82579024-A-G | c.10880T>C | p.I3627T | Missense | 6/25 | - | 2 |
7-82579027-G-A | c.10877C>T | p.P3626L | Missense | 6/25 | - | 4 |
7-82579028-G-A | c.10876C>T | p.P3626S | Missense | 6/25 | - | 5 |
7-82579037-G-A | c.10867C>T | p.L3623F | Missense | 6/25 | - | 8 |
7-82579038-G-A | c.10866C>T | p.V3622= | Synonymous | 6/25 | - | 4 |
7-82579038-G-C | c.10866C>G | p.V3622= | Synonymous | 6/25 | - | 1 |
7-82579040-AC-A | c.10864del | p.V3622Sfs*15 | Frameshift | 6/25 | - | 1 |
7-82579040-C-T | c.10864G>A | p.V3622I | Missense | 6/25 | - | 2 |
7-82579045-G-A | c.10859C>T | p.P3620L | Missense | 6/25 | - | 1 |
7-82579047-G-A | c.10857C>T | p.S3619= | Synonymous | 6/25 | - | 1 |
7-82579043-T-TG | c.10860dup | p.K3621Qfs*24 | Frameshift | 6/25 | - | 1 |
7-82579048-G-A | c.10856C>T | p.S3619F | Missense | 6/25 | - | 6 |
7-82579053-G-A | c.10851C>T | p.P3617= | Synonymous | 6/25 | - | 1 |
7-82579053-G-C | c.10851C>G | p.P3617= | Synonymous | 6/25 | - | 1 |
7-82579053-G-T | c.10851C>A | p.P3617= | Synonymous | 6/25 | - | 1 |
7-82579054-G-T | c.10850C>A | p.P3617H | Missense | 6/25 | - | 1 |
7-82579056-T-A | c.10848A>T | p.P3616= | Synonymous | 6/25 | - | 1 |
7-82579056-T-C | c.10848A>G | p.P3616= | Synonymous | 6/25 | - | 1 |
7-82579056-T-G | c.10848A>C | p.P3616= | Synonymous | 6/25 | - | 1 |
7-82579057-G-A | c.10847C>T | p.P3616L | Missense | 6/25 | - | 1 |
7-82579057-G-T | c.10847C>A | p.P3616Q | Missense | 6/25 | - | 1 |
7-82579058-G-A | c.10846C>T | p.P3616S | Missense | 6/25 | - | 2 |
7-82579058-G-T | c.10846C>A | p.P3616T | Missense | 6/25 | - | 3 |
7-82579059-G-A | c.10845C>T | p.S3615= | Synonymous | 6/25 | - | 1 |
7-82579059-G-C | c.10845C>G | p.S3615= | Synonymous | 6/25 | - | 1 |
7-82579059-G-T | c.10845C>A | p.S3615= | Synonymous | 6/25 | - | 1 |
7-82579060-G-A | c.10844C>T | p.S3615F | Missense | 6/25 | - | 6 |
7-82579062-AG-A | c.10841del | p.P3614Lfs*23 | Frameshift | 6/25 | - | 1 |
7-82579064-G-A | c.10840C>T | p.P3614S | Missense | 6/25 | - | 3 |
7-82579066-G-A | c.10838C>T | p.A3613V | Missense | 6/25 | - | 4 |
7-82579067-C-A | c.10837G>T | p.A3613S | Missense | 6/25 | - | 1 |
7-82579073-G-T | c.10831C>A | p.Q3611K | Missense | 6/25 | - | 1 |
7-82579076-C-A | c.10828G>T | p.V3610L | Missense | 6/25 | - | 1 |
7-82579076-C-G | c.10828G>C | p.V3610L | Missense | 6/25 | - | 1 |
7-82579076-C-T | c.10828G>A | p.V3610I | Missense | 6/25 | - | 4 |
7-82579080-G-A | c.10824C>T | p.S3608= | Synonymous | 6/25 | - | 4 |
7-82579081-G-A | c.10823C>T | p.S3608F | Missense | 6/25 | - | 1 |
7-82579081-G-T | c.10823C>A | p.S3608Y | Missense | 6/25 | - | 4 |
7-82579082-A-G | c.10822T>C | p.S3608P | Missense | 6/25 | - | 1 |
7-82579086-T-A | c.10818A>T | p.A3606= | Synonymous | 6/25 | - | 1 |
7-82579087-G-T | c.10817C>A | p.A3606E | Missense | 6/25 | - | 1 |
7-82579088-C-A | c.10816G>T | p.A3606S | Missense | 6/25 | - | 1 |
7-82579090-C-T | c.10814G>A | p.R3605Q | Missense | 6/25 | - | 1 |
7-82579091-G-A | c.10813C>T | p.R3605W | Missense | 6/25 | - | 2 |
7-82579094-G-A | c.10810C>T | p.L3604F | Missense | 6/25 | - | 1 |
7-82579099-G-T | c.10805C>A | p.S3602Y | Missense | 6/25 | - | 1 |
7-82579102-G-C | c.10802C>G | p.S3601* | Nonsense | 6/25 | - | 1 |
7-82579102-G-T | c.10802C>A | p.S3601* | Nonsense | 6/25 | - | 2 |
7-82579105-T-A | c.10799A>T | p.Y3600F | Missense | 6/25 | - | 2 |
7-82579108-C-A | c.10796G>T | p.G3599V | Missense | 6/25 | - | 1 |
7-82579110-A-G | c.10794T>C | p.I3598= | Synonymous | 6/25 | - | 2 |
7-82579110-A-T | c.10794T>A | p.I3598= | Synonymous | 6/25 | - | 3 |
7-82579112-T-A | c.10792A>T | p.I3598F | Missense | 6/25 | - | 1 |
7-82579113-C-A | c.10791G>T | p.E3597D | Missense | 6/25 | - | 2 |
7-82579113-C-G | c.10791G>C | p.E3597D | Missense | 6/25 | - | 1 |
7-82579113-C-T | c.10791G>A | p.E3597= | Synonymous | 6/25 | - | 1 |
7-82579120-G-T | c.10784C>A | p.P3595H | Missense | 6/25 | - | 2 |
7-82579119-AG-A | c.10784del | p.P3595Lfs*2 | Frameshift | 6/25 | - | 1 |
7-82579124-T-C | c.10780A>G | p.T3594A | Missense | 6/25 | - | 1 |
7-82579126-G-T | c.10778C>A | p.P3593Q | Missense | 6/25 | - | 2 |
7-82579128-G-A | c.10776C>T | p.R3592= | Synonymous | 6/25 | - | 3 |
7-82579128-G-C | c.10776C>G | p.R3592= | Synonymous | 6/25 | - | 3 |
7-82579128-G-T | c.10776C>A | p.R3592= | Synonymous | 6/25 | - | 3 |
7-82579129-C-T | c.10775G>A | p.R3592H | Missense | 6/25 | - | 2 |
7-82579130-G-A | c.10774C>T | p.R3592C | Missense | 6/25 | - | 3 |
7-82579134-C-T | c.10770G>A | p.K3590= | Synonymous | 6/25 | - | 3 |
7-82579135-T-G | c.10769A>C | p.K3590T | Missense | 6/25 | - | 1 |
7-82579137-G-C | c.10767C>G | p.D3589E | Missense | 6/25 | - | 1 |
7-82579138-T-A | c.10766A>T | p.D3589V | Missense | 6/25 | - | 4 |
7-82579145-G-A | c.10759C>T | p.P3587S | Missense | 6/25 | - | 1 |
7-82579145-G-T | c.10759C>A | p.P3587T | Missense | 6/25 | - | 1 |
7-82579146-T-A | c.10758A>T | p.P3586= | Synonymous | 6/25 | - | 1 |
7-82579146-T-C | c.10758A>G | p.P3586= | Synonymous | 6/25 | - | 1 |
7-82579146-T-G | c.10758A>C | p.P3586= | Synonymous | 6/25 | - | 1 |
7-82579147-G-A | c.10757C>T | p.P3586L | Missense | 6/25 | - | 3 |
7-82579148-G-A | c.10756C>T | p.P3586S | Missense | 6/25 | - | 4 |
7-82579150-G-A | c.10754C>T | p.S3585F | Missense | 6/25 | - | 3 |
7-82579156-G-A | c.10748C>T | p.A3583V | Missense | 6/25 | - | 1 |
7-82579157-C-A | c.10747G>T | p.A3583S | Missense | 6/25 | - | 1 |
7-82579157-C-T | c.10747G>A | p.A3583T | Missense | 6/25 | - | 1 |
7-82579158-A-G | c.10746T>C | p.S3582= | Synonymous | 6/25 | - | 1 |
7-82579160-T-C | c.10744A>G | p.S3582G | Missense | 6/25 | - | 1 |
7-82579161-C-A | c.10743G>T | p.L3581= | Synonymous | 6/25 | - | 2 |
7-82579161-C-G | c.10743G>C | p.L3581= | Synonymous | 6/25 | - | 7 |
7-82579161-C-T | c.10743G>A | p.L3581= | Synonymous | 6/25 | - | 4 |
7-82579162-A-T | c.10742T>A | p.L3581Q | Missense | 6/25 | - | 1 |
7-82579163-G-A | c.10741C>T | p.L3581= | Synonymous | 6/25 | - | 4 |
7-82579163-G-T | c.10741C>A | p.L3581M | Missense | 6/25 | - | 1 |
7-82579168-T-G | c.10736A>C | p.Q3579P | Missense | 6/25 | - | 1 |
7-82579169-G-A | c.10735C>T | p.Q3579* | Nonsense | 6/25 | - | 1 |
7-82579169-G-T | c.10735C>A | p.Q3579K | Missense | 6/25 | - | 1 |
7-82579174-C-T | c.10730G>A | p.S3577N | Missense | 6/25 | - | 1 |
7-82579179-T-A | c.10725A>T | p.T3575= | Synonymous | 6/25 | - | 1 |
7-82579179-T-C | c.10725A>G | p.T3575= | Synonymous | 6/25 | - | 1 |
7-82579179-T-G | c.10725A>C | p.T3575= | Synonymous | 6/25 | - | 1 |
7-82579181-T-A | c.10723A>T | p.T3575S | Missense | 6/25 | - | 1 |
7-82579181-T-C | c.10723A>G | p.T3575A | Missense | 6/25 | - | 2 |
7-82579181-T-G | c.10723A>C | p.T3575P | Missense | 6/25 | - | 1 |
7-82579183-T-C | c.10721A>G | p.D3574G | Missense | 6/25 | - | 3 |
7-82579186-G-A | c.10718C>T | p.S3573L | Missense | 6/25 | - | 6 |
7-82579187-A-G | c.10717T>C | p.S3573P | Missense | 6/25 | - | 1 |
7-82579190-C-A | c.10714G>T | p.D3572Y | Missense | 6/25 | - | 2 |
7-82579190-C-T | c.10714G>A | p.D3572N | Missense | 6/25 | - | 2 |
7-82579192-G-A | c.10712C>T | p.A3571V | Missense | 6/25 | - | 3 |
7-82579193-C-T | c.10711G>A | p.A3571T | Missense | 6/25 | - | 2 |
7-82579195-T-C | c.10709A>G | p.E3570G | Missense | 6/25 | - | 1 |
7-82579196-C-T | c.10708G>A | p.E3570K | Missense | 6/25 | - | 2 |
7-82579207-C-T | c.10697G>A | p.G3566E | Missense | 6/25 | - | 1 |
7-82579208-C-G | c.10696G>C | p.G3566R | Missense | 6/25 | - | 1 |
7-82579210-A-G | c.10694T>C | p.L3565S | Missense | 6/25 | - | 1 |
7-82579211-A-G | c.10693T>C | p.L3565= | Synonymous | 6/25 | - | 1 |
7-82579213-C-T | c.10691G>A | p.S3564N | Missense | 6/25 | - | 1 |
7-82579215-G-A | c.10689C>T | p.G3563= | Synonymous | 6/25 | - | 1 |
7-82579216-C-T | c.10688G>A | p.G3563D | Missense | 6/25 | - | 1 |
7-82579217-C-T | c.10687G>A | p.G3563S | Missense | 6/25 | - | 6 |
7-82579218-C-G | c.10686G>C | p.G3562= | Synonymous | 6/25 | - | 1 |
7-82579219-C-T | c.10685G>A | p.G3562E | Missense | 6/25 | - | 1 |
7-82579220-C-T | c.10684G>A | p.G3562R | Missense | 6/25 | - | 4 |
7-82579223-T-A | c.10681A>T | p.K3561* | Nonsense | 6/25 | - | 1 |
7-82579225-T-C | c.10679A>G | p.Y3560C | Missense | 6/25 | - | 1 |
7-82579225-T-G | c.10679A>C | p.Y3560S | Missense | 6/25 | - | 1 |
7-82579230-C-A | c.10674G>T | p.K3558N | Missense | 6/25 | - | 1 |
7-82579230-C-G | c.10674G>C | p.K3558N | Missense | 6/25 | - | 1 |
7-82579230-C-T | c.10674G>A | p.K3558= | Synonymous | 6/25 | - | 1 |
7-82579233-T-A | c.10671A>T | p.E3557D | Missense | 6/25 | - | 1 |
7-82579233-T-G | c.10671A>C | p.E3557D | Missense | 6/25 | - | 1 |
7-82579235-C-G | c.10669G>C | p.E3557Q | Missense | 6/25 | - | 1 |
7-82579235-C-T | c.10669G>A | p.E3557K | Missense | 6/25 | - | 1 |
7-82579238-G-C | c.10666C>G | p.P3556A | Missense | 6/25 | - | 1 |
7-82579239-T-C | c.10665A>G | p.A3555= | Synonymous | 6/25 | - | 1 |
7-82579241-C-T | c.10663G>A | p.A3555T | Missense | 6/25 | - | 1 |
7-82579245-A-C | c.10659T>G | p.I3553M | Missense | 6/25 | - | 1 |
7-82579247-T-C | c.10657A>G | p.I3553V | Missense | 6/25 | - | 2 |
7-82579247-T-G | c.10657A>C | p.I3553L | Missense | 6/25 | - | 1 |
7-82579249-T-G | c.10655A>C | p.H3552P | Missense | 6/25 | - | 1 |
7-82579250-G-A | c.10654C>T | p.H3552Y | Missense | 6/25 | - | 1 |
7-82579250-G-C | c.10654C>G | p.H3552D | Missense | 6/25 | - | 1 |
7-82579252-T-C | c.10652A>G | p.K3551R | Missense | 6/25 | - | 1 |
7-82579250-GT-G | c.10653del | p.K3551Nfs*15 | Frameshift | 6/25 | - | 1 |
7-82579253-TA-T | c.10650del | p.K3551Nfs*15 | Frameshift | 6/25 | - | 2 |
7-82579256-T-C | c.10648A>G | p.I3550V | Missense | 6/25 | - | 1 |
7-82579262-C-A | c.10642G>T | p.E3548* | Nonsense | 6/25 | - | 1 |
7-82579263-T-C | c.10641A>G | p.V3547= | Synonymous | 6/25 | - | 4 |
7-82579270-G-A | c.10634C>T | p.A3545V | Missense | 6/25 | - | 1 |
7-82579270-G-C | c.10634C>G | p.A3545G | Missense | 6/25 | - | 1 |
7-82579271-C-A | c.10633G>T | p.A3545S | Missense | 6/25 | - | 1 |
7-82579271-C-T | c.10633G>A | p.A3545T | Missense | 6/25 | - | 2 |
7-82579274-C-G | c.10630G>C | p.D3544H | Missense | 6/25 | - | 1 |
7-82579274-C-T | c.10630G>A | p.D3544N | Missense | 6/25 | - | 1 |
7-82579278-T-C | c.10626A>G | p.R3542= | Synonymous | 6/25 | - | 1 |
7-82579279-C-T | c.10625G>A | p.R3542Q | Missense | 6/25 | - | 3 |
7-82579280-G-A | c.10624C>T | p.R3542* | Nonsense | 6/25 | - | 1 |
7-82579280-G-C | c.10624C>G | p.R3542G | Missense | 6/25 | - | 2 |
7-82579280-G-T | c.10624C>A | p.R3542= | Synonymous | 6/25 | - | 1 |
7-82579283-C-T | c.10621G>A | p.A3541T | Missense | 6/25 | - | 2 |
7-82579284-CC-AT | c.10619_10620delinsAT | p.R3540H | Missense | 6/25 | - | 1 |
7-82579284-C-T | c.10620G>A | p.R3540= | Synonymous | 6/25 | - | 1 |
7-82579285-C-T | c.10619G>A | p.R3540Q | Missense | 6/25 | - | 2 |
7-82579286-G-A | c.10618C>T | p.R3540W | Missense | 6/25 | - | 2 |
7-82579294-G-A | c.10610C>T | p.P3537L | Missense | 6/25 | - | 1 |
7-82579297-G-A | c.10607C>T | p.T3536I | Missense | 6/25 | - | 1 |
7-82579299-T-A | c.10605A>T | p.R3535S | Missense | 6/25 | - | 1 |
7-82579299-T-G | c.10605A>C | p.R3535S | Missense | 6/25 | - | 1 |
7-82579300-C-T | c.10604G>A | p.R3535K | Missense | 6/25 | - | 4 |
7-82579301-T-C | c.10603A>G | p.R3535G | Missense | 6/25 | - | 1 |
7-82579302-T-C | c.10602A>G | p.I3534M | Missense | 6/25 | - | 1 |
7-82579304-T-C | c.10600A>G | p.I3534V | Missense | 6/25 | - | 2 |
7-82579309-C-A | c.10595G>T | p.G3532V | Missense | 6/25 | - | 2 |
7-82579309-C-T | c.10595G>A | p.G3532E | Missense | 6/25 | - | 3 |
7-82579310-C-G | c.10594G>C | p.G3532R | Missense | 6/25 | - | 1 |
7-82579310-C-T | c.10594G>A | p.G3532R | Missense | 6/25 | - | 1 |
7-82579313-C-A | c.10591G>T | p.V3531F | Missense | 6/25 | - | 2 |
7-82579315-G-A | c.10589C>T | p.P3530L | Missense | 6/25 | - | 2 |
7-82579315-G-C | c.10589C>G | p.P3530R | Missense | 6/25 | - | 1 |
7-82579315-G-T | c.10589C>A | p.P3530Q | Missense | 6/25 | - | 1 |
7-82579317-T-C | c.10587A>G | p.E3529= | Synonymous | 6/25 | - | 1 |
7-82579319-C-A | c.10585G>T | p.E3529* | Nonsense | 6/25 | - | 1 |
7-82579325-G-A | c.10579C>T | p.Q3527* | Nonsense | 6/25 | - | 1 |
7-82579327-A-G | c.10577T>C | p.V3526A | Missense | 6/25 | - | 1 |
7-82579331-A-T | c.10573T>A | p.S3525T | Missense | 6/25 | - | 1 |
7-82579334-T-A | c.10570A>T | p.I3524L | Missense | 6/25 | - | 1 |
7-82579335-C-A | c.10569G>T | p.E3523D | Missense | 6/25 | - | 1 |
7-82579335-TCTC-T | c.10567_10569del | p.E3523del | InFrameDeletion | 6/25 | - | 1 |
7-82579337-C-G | c.10567G>C | p.E3523Q | Missense | 6/25 | - | 1 |
7-82579337-C-T | c.10567G>A | p.E3523K | Missense | 6/25 | - | 3 |
7-82579339-G-A | c.10565C>T | p.A3522V | Missense | 6/25 | - | 1 |
7-82579340-C-T | c.10564G>A | p.A3522T | Missense | 6/25 | - | 1 |
7-82579345-G-A | c.10559C>T | p.T3520M | Missense | 6/25 | - | 2 |
7-82579345-G-C | c.10559C>G | p.T3520R | Missense | 6/25 | - | 1 |
7-82579349-G-A | c.10555C>T | p.Q3519* | Nonsense | 6/25 | - | 2 |
7-82579352-C-G | c.10552G>C | p.V3518L | Missense | 6/25 | - | 1 |
7-82579356-T-C | c.10548A>G | p.I3516M | Missense | 6/25 | - | 2 |
7-82579358-T-C | c.10546A>G | p.I3516V | Missense | 6/25 | - | 2 |
7-82579359-G-A | c.10545C>T | p.S3515= | Synonymous | 6/25 | - | 1 |
7-82579366-A-C | c.10538T>G | p.V3513G | Missense | 6/25 | - | 1 |
7-82579375-A-G | c.10529T>C | p.L3510P | Missense | 6/25 | - | 2 |
7-82579376-G-A | c.10528C>T | p.L3510F | Missense | 6/25 | - | 2 |
7-82579376-G-T | c.10528C>A | p.L3510I | Missense | 6/25 | - | 1 |
7-82579380-T-A | c.10524A>T | p.K3508N | Missense | 6/25 | - | 1 |
7-82579380-T-G | c.10524A>C | p.K3508N | Missense | 6/25 | - | 1 |
7-82579381-T-C | c.10523A>G | p.K3508R | Missense | 6/25 | - | 1 |
7-82579382-T-C | c.10522A>G | p.K3508E | Missense | 6/25 | - | 4 |
7-82579384-G-C | c.10520C>G | p.T3507S | Missense | 6/25 | - | 1 |
7-82579385-T-A | c.10519A>T | p.T3507S | Missense | 6/25 | - | 2 |
7-82579385-T-G | c.10519A>C | p.T3507P | Missense | 6/25 | - | 1 |
7-82579390-T-A | c.10514A>T | p.D3505V | Missense | 6/25 | - | 1 |
7-82579405-C-A | c.10499G>T | p.S3500I | Missense | 6/25 | - | 1 |
7-82579412-C-A | c.10492G>T | p.G3498C | Missense | 6/25 | - | 1 |
7-82579413-A-C | c.10491T>G | p.Y3497* | Nonsense | 6/25 | - | 1 |
7-82579413-A-T | c.10491T>A | p.Y3497* | Nonsense | 6/25 | - | 1 |
7-82579415-A-G | c.10489T>C | p.Y3497H | Missense | 6/25 | - | 1 |
7-82579418-T-C | c.10486A>G | p.K3496E | Missense | 6/25 | - | 1 |
7-82579419-C-T | c.10485G>A | p.G3495= | Synonymous | 6/25 | - | 3 |
7-82579420-C-G | c.10484G>C | p.G3495A | Missense | 6/25 | - | 1 |
7-82579424-C-T | c.10480G>A | p.V3494I | Missense | 6/25 | - | 1 |
7-82579425-ACG-CCA | c.10477_10479delinsTGG | p.R3493W | Missense | 6/25 | - | 2 |
7-82579426-C-T | c.10478G>A | p.R3493H | Missense | 6/25 | - | 1 |
7-82579427-G-A | c.10477C>T | p.R3493C | Missense | 6/25 | - | 5 |
7-82579427-G-T | c.10477C>A | p.R3493S | Missense | 6/25 | - | 3 |
7-82579434-C-T | c.10470G>A | p.R3490= | Synonymous | 6/25 | - | 3 |
7-82579437-C-T | c.10467G>A | p.R3489= | Synonymous | 6/25 | - | 1 |
7-82579441-G-A | c.10463C>T | p.S3488L | Missense | 6/25 | - | 1 |
7-82579447-G-T | c.10457C>A | p.T3486N | Missense | 6/25 | - | 1 |
7-82579451-G-T | c.10453C>A | p.P3485T | Missense | 6/25 | - | 1 |
7-82579452-C-A | c.10452G>T | p.M3484I | Missense | 6/25 | - | 2 |
7-82579452-C-G | c.10452G>C | p.M3484I | Missense | 6/25 | - | 2 |
7-82579452-C-T | c.10452G>A | p.M3484I | Missense | 6/25 | - | 2 |
7-82579454-T-C | c.10450A>G | p.M3484V | Missense | 6/25 | - | 1 |
7-82579455-A-C | c.10449T>G | p.D3483E | Missense | 6/25 | - | 3 |
7-82579457-C-T | c.10447G>A | p.D3483N | Missense | 6/25 | - | 3 |
7-82579454-TATCCCACTCATCCTG-T | c.10435_10449del | p.Q3479_D3483del | InFrameDeletion | 6/25 | - | 1 |
7-82579458-C-A | c.10446G>T | p.W3482C | Missense | 6/25 | - | 2 |
7-82579458-C-T | c.10446G>A | p.W3482* | Nonsense | 6/25 | - | 3 |
7-82579459-C-T | c.10445G>A | p.W3482* | Nonsense | 6/25 | - | 2 |
7-82579466-C-T | c.10438G>A | p.D3480N | Missense | 6/25 | - | 4 |
7-82579467-C-T | c.10437G>A | p.Q3479= | Synonymous | 6/25 | - | 2 |
7-82579471-T-C | c.10433A>G | p.D3478G | Missense | 6/25 | - | 1 |
7-82579473-T-G | c.10431A>C | p.E3477D | Missense | 6/25 | - | 1 |
7-82579481-C-T | c.10423G>A | p.D3475N | Missense | 6/25 | - | 1 |
7-82579490-C-T | c.10414G>A | p.V3472I | Missense | 6/25 | - | 4 |
7-82579491-G-A | c.10413C>T | p.S3471= | Synonymous | 6/25 | - | 1 |
7-82579491-G-C | c.10413C>G | p.S3471R | Missense | 6/25 | - | 1 |
7-82579491-G-T | c.10413C>A | p.S3471R | Missense | 6/25 | - | 1 |
7-82579493-T-G | c.10411A>C | p.S3471R | Missense | 6/25 | - | 1 |
7-82579499-C-T | c.10405G>A | p.D3469N | Missense | 6/25 | - | 2 |
7-82579500-C-T | c.10404G>A | p.V3468= | Synonymous | 6/25 | - | 3 |
7-82579502-C-G | c.10402G>C | p.V3468L | Missense | 6/25 | - | 2 |
7-82579499-CCA-C | c.10403_10404del | p.V3468Gfs*7 | Frameshift | 6/25 | - | 1 |
7-82579504-C-A | c.10400G>T | p.S3467I | Missense | 6/25 | - | 1 |
7-82579506-C-G | c.10398G>C | p.K3466N | Missense | 6/25 | - | 1 |
7-82579509-T-A | c.10395A>T | p.K3465N | Missense | 6/25 | - | 1 |
7-82579509-T-C | c.10395A>G | p.K3465= | Synonymous | 6/25 | - | 1 |
7-82579509-T-G | c.10395A>C | p.K3465N | Missense | 6/25 | - | 1 |
7-82579510-T-C | c.10394A>G | p.K3465R | Missense | 6/25 | - | 1 |
7-82579512-A-C | c.10392T>G | p.T3464= | Synonymous | 6/25 | - | 1 |
7-82579512-A-G | c.10392T>C | p.T3464= | Synonymous | 6/25 | - | 1 |
7-82579512-A-T | c.10392T>A | p.T3464= | Synonymous | 6/25 | - | 1 |
7-82579518-C-T | c.10386G>A | p.R3462= | Synonymous | 6/25 | - | 4 |
7-82579520-T-C | c.10384A>G | p.R3462G | Missense | 6/25 | - | 1 |
7-82579521-T-C | c.10383A>G | p.R3461= | Synonymous | 6/25 | - | 1 |
7-82579522-C-T | c.10382G>A | p.R3461K | Missense | 6/25 | - | 4 |
7-82579524-C-G | c.10380G>C | p.R3460S | Missense | 6/25 | - | 1 |
7-82579528-C-T | c.10376G>A | p.S3459N | Missense | 6/25 | - | 1 |
7-82579529-T-A | c.10375A>T | p.S3459C | Missense | 6/25 | - | 1 |
7-82579536-G-C | c.10368C>G | p.S3456R | Missense | 6/25 | - | 3 |
7-82579536-G-T | c.10368C>A | p.S3456R | Missense | 6/25 | - | 2 |
7-82579538-T-G | c.10366A>C | p.S3456R | Missense | 6/25 | - | 2 |
7-82579539-C-A | c.10365G>T | p.R3455= | Synonymous | 6/25 | - | 1 |
7-82579540-C-T | c.10364G>A | p.R3455Q | Missense | 6/25 | - | 2 |
7-82579541-G-A | c.10363C>T | p.R3455W | Missense | 6/25 | - | 6 |
7-82579543-T-A | c.10361A>T | p.D3454V | Missense | 6/25 | - | 1 |
7-82579544-C-G | c.10360G>C | p.D3454H | Missense | 6/25 | - | 1 |
7-82579553-C-A | c.10351G>T | p.D3451Y | Missense | 6/25 | - | 1 |
7-82579556-C-T | c.10348G>A | p.E3450K | Missense | 6/25 | - | 6 |
7-82579557-G-A | c.10347C>T | p.D3449= | Synonymous | 6/25 | - | 2 |
7-82579557-G-T | c.10347C>A | p.D3449E | Missense | 6/25 | - | 1 |
7-82579558-T-A | c.10346A>T | p.D3449V | Missense | 6/25 | - | 1 |
7-82579559-C-T | c.10345G>A | p.D3449N | Missense | 6/25 | - | 2 |
7-82579557-GTCA-G | c.10344_10346del | p.D3449del | InFrameDeletion | 6/25 | - | 1 |
7-82579559-C-CA | c.10344dup | p.D3449* | Nonsense | 6/25 | - | 1 |
7-82579563-C-A | c.10341G>T | p.T3447= | Synonymous | 6/25 | - | 4 |
7-82579563-C-G | c.10341G>C | p.T3447= | Synonymous | 6/25 | - | 2 |
7-82579563-C-T | c.10341G>A | p.T3447= | Synonymous | 6/25 | - | 3 |
7-82579564-G-A | c.10340C>T | p.T3447M | Missense | 6/25 | - | 9 |
7-82579565-T-C | c.10339A>G | p.T3447A | Missense | 6/25 | - | 1 |
7-82579567-T-C | c.10337A>G | p.Q3446R | Missense | 6/25 | - | 2 |
7-82579569-T-A | c.10335A>T | p.V3445= | Synonymous | 6/25 | - | 2 |
7-82579569-T-C | c.10335A>G | p.V3445= | Synonymous | 6/25 | - | 3 |
7-82579569-T-G | c.10335A>C | p.V3445= | Synonymous | 6/25 | - | 2 |
7-82579574-C-T | c.10330G>A | p.G3444S | Missense | 6/25 | - | 1 |
7-82579576-C-G | c.10328G>C | p.S3443T | Missense | 6/25 | - | 1 |
7-82579580-C-A | c.10324G>T | p.D3442Y | Missense | 6/25 | - | 1 |
7-82579581-C-A | c.10323G>T | p.V3441= | Synonymous | 6/25 | - | 1 |
7-82579581-C-G | c.10323G>C | p.V3441= | Synonymous | 6/25 | - | 1 |
7-82579581-C-T | c.10323G>A | p.V3441= | Synonymous | 6/25 | - | 2 |
7-82579582-A-C | c.10322T>G | p.V3441G | Missense | 6/25 | - | 1 |
7-82579591-T-C | c.10313A>G | p.K3438R | Missense | 6/25 | - | 1 |
7-82579592-T-C | c.10312A>G | p.K3438E | Missense | 6/25 | - | 2 |
7-82579597-C-T | c.10307G>A | p.S3436N | Missense | 6/25 | - | 2 |
7-82579600-C-T | c.10304G>A | p.R3435Q | Missense | 6/25 | - | 12 |
7-82579601-G-A | c.10303C>T | p.R3435* | Nonsense | 6/25 | - | 1 |
7-82579600-CG-C | c.10303del | p.R3435Efs*6 | Frameshift | 6/25 | - | 1 |
7-82579604-G-A | c.10300C>T | p.P3434S | Missense | 6/25 | - | 1 |
7-82579607-C-T | c.10297G>A | p.D3433N | Missense | 6/25 | - | 1 |
7-82579610-C-T | c.10294G>A | p.D3432N | Missense | 6/25 | - | 2 |
7-82579615-A-C | c.10289T>G | p.M3430R | Missense | 6/25 | - | 1 |
7-82579616-T-C | c.10288A>G | p.M3430V | Missense | 6/25 | - | 2 |
7-82579619-T-A | c.10285A>T | p.N3429Y | Missense | 6/25 | - | 1 |
7-82579619-T-C | c.10285A>G | p.N3429D | Missense | 6/25 | - | 1 |
7-82579622-C-T | c.10282G>A | p.E3428K | Missense | 6/25 | - | 2 |
7-82579624-C-T | c.10280G>A | p.G3427E | Missense | 6/25 | - | 4 |
7-82579625-C-G | c.10279G>C | p.G3427R | Missense | 6/25 | - | 1 |
7-82579625-C-T | c.10279G>A | p.G3427R | Missense | 6/25 | - | 1 |
7-82579626-C-A | c.10278G>T | p.M3426I | Missense | 6/25 | - | 2 |
7-82579636-T-C | c.10268A>G | p.Y3423C | Missense | 6/25 | - | 1 |
7-82579646-G-A | c.10258C>T | p.R3420* | Nonsense | 6/25 | - | 1 |
7-82579647-G-A | c.10257C>T | p.V3419= | Synonymous | 6/25 | - | 2 |
7-82579649-C-A | c.10255G>T | p.V3419F | Missense | 6/25 | - | 1 |
7-82579655-C-A | c.10249G>T | p.A3417S | Missense | 6/25 | - | 1 |
7-82579655-C-T | c.10249G>A | p.A3417T | Missense | 6/25 | - | 2 |
7-82579657-C-G | c.10247G>C | p.G3416A | Missense | 6/25 | - | 1 |
7-82579658-C-T | c.10246G>A | p.G3416R | Missense | 6/25 | - | 1 |
7-82579666-C-A | c.10238G>T | p.R3413I | Missense | 6/25 | - | 2 |
7-82579667-CT-C | c.10237del | p.R3413Efs*18 | Frameshift | 6/25 | - | 1 |
7-82579668-C-T | c.10236G>A | p.K3412= | Synonymous | 6/25 | - | 6 |
7-82579668-CT-GA | c.10235_10236delinsTC | p.K3412I | Missense | 6/25 | - | 1 |
7-82579669-T-A | c.10235A>T | p.K3412M | Missense | 6/25 | - | 1 |
7-82579670-T-C | c.10234A>G | p.K3412E | Missense | 6/25 | - | 4 |
7-82579672-T-A | c.10232A>T | p.K3411I | Missense | 6/25 | - | 2 |
7-82579673-T-C | c.10231A>G | p.K3411E | Missense | 6/25 | - | 1 |
7-82579673-T-G | c.10231A>C | p.K3411Q | Missense | 6/25 | - | 1 |
7-82579675-G-T | c.10229C>A | p.P3410H | Missense | 6/25 | - | 1 |
7-82579676-G-A | c.10228C>T | p.P3410S | Missense | 6/25 | - | 1 |
7-82579677-T-C | c.10227A>G | p.Q3409= | Synonymous | 6/25 | - | 1 |
7-82579683-T-C | c.10221A>G | p.E3407= | Synonymous | 6/25 | - | 1 |
7-82579679-GT-G | c.10224del | p.K3408Nfs*23 | Frameshift | 6/25 | - | 1 |
7-82579685-C-T | c.10219G>A | p.E3407K | Missense | 6/25 | - | 12 |
7-82579686-C-T | c.10218G>A | p.E3406= | Synonymous | 6/25 | - | 1 |
7-82579688-C-A | c.10216G>T | p.E3406* | Nonsense | 6/25 | - | 2 |
7-82579688-C-T | c.10216G>A | p.E3406K | Missense | 6/25 | - | 2 |
7-82579692-C-T | c.10212G>A | p.V3404= | Synonymous | 6/25 | - | 1 |
7-82579701-A-G | c.10203T>C | p.D3401= | Synonymous | 6/25 | - | 1 |
7-82579706-T-A | c.10198A>T | p.T3400S | Missense | 6/25 | - | 1 |
7-82579709-G-C | c.10195C>G | p.L3399V | Missense | 6/25 | - | 1 |
7-82579714-A-T | c.10190T>A | p.I3397K | Missense | 6/25 | - | 1 |
7-82579715-T-C | c.10189A>G | p.I3397V | Missense | 6/25 | - | 1 |
7-82579718-C-T | c.10186G>A | p.E3396K | Missense | 6/25 | - | 1 |
7-82579720-G-A | c.10184C>T | p.S3395L | Missense | 6/25 | - | 1 |
7-82579726-G-C | c.10178C>G | p.T3393S | Missense | 6/25 | - | 1 |
7-82579727-T-C | c.10177A>G | p.T3393A | Missense | 6/25 | - | 1 |
7-82579728-G-A | c.10176C>T | p.S3392= | Synonymous | 6/25 | - | 1 |
7-82579729-C-T | c.10175G>A | p.S3392N | Missense | 6/25 | - | 1 |
7-82579734-G-A | c.10170C>T | p.I3390= | Synonymous | 6/25 | - | 4 |
7-82579737-A-G | c.10167T>C | p.G3389= | Synonymous | 6/25 | - | 1 |
7-82579738-C-G | c.10166G>C | p.G3389A | Missense | 6/25 | - | 1 |
7-82579742-G-T | c.10162C>A | p.P3388T | Missense | 6/25 | - | 1 |
7-82579752-G-C | c.10152C>G | p.Y3384* | Nonsense | 6/25 | - | 1 |
7-82579755-C-A | c.10149G>T | p.Q3383H | Missense | 6/25 | - | 1 |
7-82579755-C-G | c.10149G>C | p.Q3383H | Missense | 6/25 | - | 1 |
7-82579758-A-C | c.10146T>G | p.T3382= | Synonymous | 6/25 | - | 1 |
7-82579759-G-A | c.10145C>T | p.T3382I | Missense | 6/25 | - | 2 |
7-82579760-T-C | c.10144A>G | p.T3382A | Missense | 6/25 | - | 1 |
7-82579762-A-C | c.10142T>G | p.V3381G | Missense | 6/25 | - | 1 |
7-82579763-C-T | c.10141G>A | p.V3381I | Missense | 6/25 | - | 1 |
7-82579765-C-A | c.10139G>T | p.G3380V | Missense | 6/25 | - | 6 |
7-82579766-C-A | c.10138G>T | p.G3380C | Missense | 6/25 | - | 3 |
7-82579775-G-A | c.10129C>T | p.Q3377* | Nonsense | 6/25 | - | 3 |
7-82579776-A-G | c.10128T>C | p.V3376= | Synonymous | 6/25 | - | 1 |
7-82579778-C-T | c.10126G>A | p.V3376I | Missense | 6/25 | - | 1 |
7-82579779-G-A | c.10125C>T | p.T3375= | Synonymous | 6/25 | - | 5 |
7-82579779-G-C | c.10125C>G | p.T3375= | Synonymous | 6/25 | - | 2 |
7-82579779-G-T | c.10125C>A | p.T3375= | Synonymous | 6/25 | - | 2 |
7-82579780-G-A | c.10124C>T | p.T3375I | Missense | 6/25 | - | 1 |
7-82579780-G-C | c.10124C>G | p.T3375S | Missense | 6/25 | - | 1 |
7-82579784-A-G | c.10120T>C | p.Y3374H | Missense | 6/25 | - | 4 |
7-82579785-C-A | c.10119G>T | p.W3373C | Missense | 6/25 | - | 2 |
7-82579785-C-G | c.10119G>C | p.W3373C | Missense | 6/25 | - | 1 |
7-82579785-C-T | c.10119G>A | p.W3373* | Nonsense | 6/25 | - | 2 |
7-82579786-C-A | c.10118G>T | p.W3373L | Missense | 6/25 | - | 2 |
7-82579786-C-T | c.10118G>A | p.W3373* | Nonsense | 6/25 | - | 1 |
7-82579790-C-A | c.10114G>T | p.G3372* | Nonsense | 6/25 | - | 1 |
7-82579795-C-T | c.10109G>A | p.S3370N | Missense | 6/25 | - | 2 |
7-82579796-T-A | c.10108A>T | p.S3370C | Missense | 6/25 | - | 1 |
7-82579804-A-G | c.10100T>C | p.I3367T | Missense | 6/25 | - | 1 |
7-82579810-A-G | c.10094T>C | p.I3365T | Missense | 6/25 | - | 1 |
7-82579811-T-C | c.10093A>G | p.I3365V | Missense | 6/25 | - | 1 |
7-82579814-C-T | c.10090G>A | p.A3364T | Missense | 6/25 | - | 2 |
7-82579822-G-A | c.10082C>T | p.A3361V | Missense | 6/25 | - | 5 |
7-82579824-T-A | c.10080A>T | p.S3360= | Synonymous | 6/25 | - | 1 |
7-82579824-T-C | c.10080A>G | p.S3360= | Synonymous | 6/25 | - | 1 |
7-82579824-T-G | c.10080A>C | p.S3360= | Synonymous | 6/25 | - | 1 |
7-82579825-G-A | c.10079C>T | p.S3360L | Missense | 6/25 | - | 2 |
7-82579826-A-G | c.10078T>C | p.S3360P | Missense | 6/25 | - | 1 |
7-82579828-G-C | c.10076C>G | p.A3359G | Missense | 6/25 | - | 1 |
7-82579834-G-T | c.10070C>A | p.T3357N | Missense | 6/25 | - | 2 |
7-82579836-G-A | c.10068C>T | p.T3356= | Synonymous | 6/25 | - | 1 |
7-82579837-G-A | c.10067C>T | p.T3356I | Missense | 6/25 | - | 2 |
7-82579838-T-C | c.10066A>G | p.T3356A | Missense | 6/25 | - | 1 |
7-82579840-G-A | c.10064C>T | p.A3355V | Missense | 6/25 | - | 1 |
7-82579844-C-A | c.10060G>T | p.D3354Y | Missense | 6/25 | - | 1 |
7-82579846-T-C | c.10058A>G | p.E3353G | Missense | 6/25 | - | 1 |
7-82579847-C-T | c.10057G>A | p.E3353K | Missense | 6/25 | - | 4 |
7-82579853-C-G | c.10051G>C | p.A3351P | Missense | 6/25 | - | 1 |
7-82579864-C-A | c.10040G>T | p.S3347I | Missense | 6/25 | - | 1 |
7-82579870-T-G | c.10034A>C | p.E3345A | Missense | 6/25 | - | 1 |
7-82579871-C-T | c.10033G>A | p.E3345K | Missense | 6/25 | - | 3 |
7-82579876-G-A | c.10028C>T | p.A3343V | Missense | 6/25 | - | 1 |
7-82579883-A-G | c.10021T>C | p.Y3341H | Missense | 6/25 | - | 1 |
7-82579885-T-C | c.10019A>G | p.Q3340R | Missense | 6/25 | - | 1 |
7-82579888-C-T | c.10016G>A | p.G3339D | Missense | 6/25 | - | 1 |
7-82579889-C-A | c.10015G>T | p.G3339C | Missense | 6/25 | - | 2 |
7-82579889-C-G | c.10015G>C | p.G3339R | Missense | 6/25 | - | 3 |
7-82579892-C-T | c.10012G>A | p.E3338K | Missense | 6/25 | - | 1 |
7-82579897-A-C | c.10007T>G | p.I3336S | Missense | 6/25 | - | 1 |
7-82579900-G-A | c.10004C>T | p.A3335V | Missense | 6/25 | - | 3 |
7-82579905-C-T | c.9999G>A | p.E3333= | Synonymous | 6/25 | - | 1 |
7-82579907-C-A | c.9997G>T | p.E3333* | Nonsense | 6/25 | - | 6 |
7-82579907-C-G | c.9997G>C | p.E3333Q | Missense | 6/25 | - | 1 |
7-82579907-C-T | c.9997G>A | p.E3333K | Missense | 6/25 | - | 2 |
7-82579916-T-C | c.9988A>G | p.T3330A | Missense | 6/25 | - | 1 |
7-82579916-T-G | c.9988A>C | p.T3330P | Missense | 6/25 | - | 1 |
7-82579928-C-T | c.9976G>A | p.A3326T | Missense | 6/25 | - | 1 |
7-82579931-T-A | c.9973A>T | p.T3325S | Missense | 6/25 | - | 2 |
7-82579932-T-A | c.9972A>T | p.G3324= | Synonymous | 6/25 | - | 1 |
7-82579932-T-C | c.9972A>G | p.G3324= | Synonymous | 6/25 | - | 1 |
7-82579932-T-G | c.9972A>C | p.G3324= | Synonymous | 6/25 | - | 1 |
7-82579933-C-T | c.9971G>A | p.G3324E | Missense | 6/25 | - | 1 |
7-82579936-G-A | c.9968C>T | p.S3323F | Missense | 6/25 | - | 1 |
7-82579936-G-T | c.9968C>A | p.S3323Y | Missense | 6/25 | - | 1 |
7-82579939-G-T | c.9965C>A | p.P3322H | Missense | 6/25 | - | 4 |
7-82579941-G-A | c.9963C>T | p.D3321= | Synonymous | 6/25 | - | 1 |
7-82579954-T-A | c.9950A>T | p.Q3317L | Missense | 6/25 | - | 1 |
7-82579959-G-T | c.9945C>A | p.I3315= | Synonymous | 6/25 | - | 1 |
7-82579960-A-C | c.9944T>G | p.I3315S | Missense | 6/25 | - | 1 |
7-82579962-C-T | c.9942G>A | p.Q3314= | Synonymous | 6/25 | - | 2 |
7-82579963-CT-C | c.9941del | p.Q3314Rfs*78 | Frameshift | 6/25 | - | 1 |
7-82579964-G-T | c.9940C>A | p.Q3314K | Missense | 6/25 | - | 1 |
7-82579967-G-A | c.9937C>T | p.R3313W | Missense | 6/25 | - | 14 |
7-82579970-T-A | c.9934A>T | p.I3312F | Missense | 6/25 | - | 4 |
7-82579971-C-G | c.9933G>C | p.K3311N | Missense | 6/25 | - | 1 |
7-82579971-C-T | c.9933G>A | p.K3311= | Synonymous | 6/25 | - | 1 |
7-82579972-T-A | c.9932A>T | p.K3311M | Missense | 6/25 | - | 1 |
7-82579972-T-C | c.9932A>G | p.K3311R | Missense | 6/25 | - | 2 |
7-82579972-T-G | c.9932A>C | p.K3311T | Missense | 6/25 | - | 4 |
7-82579977-C-A | c.9927G>T | p.E3309D | Missense | 6/25 | - | 1 |
7-82579977-C-G | c.9927G>C | p.E3309D | Missense | 6/25 | - | 1 |
7-82579979-C-T | c.9925G>A | p.E3309K | Missense | 6/25 | - | 5 |
7-82579982-C-A | c.9922G>T | p.E3308* | Nonsense | 6/25 | - | 1 |
7-82579983-C-A | c.9921G>T | p.L3307= | Synonymous | 6/25 | - | 2 |
7-82579984-A-G | c.9920T>C | p.L3307P | Missense | 6/25 | - | 3 |
7-82579985-G-A | c.9919C>T | p.L3307= | Synonymous | 6/25 | - | 1 |
7-82579989-C-T | c.9915G>A | p.Q3305= | Synonymous | 6/25 | - | 1 |
7-82579994-G-A | c.9910C>T | p.H3304Y | Missense | 6/25 | - | 2 |
7-82579996-A-T | c.9908T>A | p.L3303H | Missense | 6/25 | - | 1 |
7-82579998-C-G | c.9906G>C | p.Q3302H | Missense | 6/25 | - | 1 |
7-82579998-C-T | c.9906G>A | p.Q3302= | Synonymous | 6/25 | - | 1 |
7-82580002-T-C | c.9902A>G | p.Q3301R | Missense | 6/25 | - | 1 |
7-82580004-T-A | c.9900A>T | p.Q3300H | Missense | 6/25 | - | 1 |
7-82580006-G-A | c.9898C>T | p.Q3300* | Nonsense | 6/25 | - | 4 |
7-82580009-G-A | c.9895C>T | p.L3299= | Synonymous | 6/25 | - | 1 |
7-82580016-G-A | c.9888C>T | p.I3296= | Synonymous | 6/25 | - | 1 |
7-82580021-G-A | c.9883C>T | p.Q3295* | Nonsense | 6/25 | - | 1 |
7-82580023-T-A | c.9881A>T | p.E3294V | Missense | 6/25 | - | 1 |
7-82580024-C-G | c.9880G>C | p.E3294Q | Missense | 6/25 | - | 1 |
7-82580027-G-A | c.9877C>T | p.L3293F | Missense | 6/25 | - | 1 |
7-82580028-C-A | c.9876G>T | p.Q3292H | Missense | 6/25 | - | 1 |
7-82580028-C-G | c.9876G>C | p.Q3292H | Missense | 6/25 | - | 1 |
7-82580028-C-T | c.9876G>A | p.Q3292= | Synonymous | 6/25 | - | 1 |
7-82580038-T-C | c.9866A>G | p.Q3289R | Missense | 6/25 | - | 1 |
7-82580039-G-A | c.9865C>T | p.Q3289* | Nonsense | 6/25 | - | 2 |
7-82580040-C-T | c.9864G>A | p.Q3288= | Synonymous | 6/25 | - | 1 |
7-82580041-T-C | c.9863A>G | p.Q3288R | Missense | 6/25 | - | 1 |
7-82580042-G-A | c.9862C>T | p.Q3288* | Nonsense | 6/25 | - | 1 |
7-82580042-G-C | c.9862C>G | p.Q3288E | Missense | 6/25 | - | 1 |
7-82580045-C-G | c.9859G>C | p.A3287P | Missense | 6/25 | - | 1 |
7-82580048-A-G | c.9856T>C | p.L3286= | Synonymous | 6/25 | - | 1 |
7-82580049-C-A | c.9855G>T | p.T3285= | Synonymous | 6/25 | - | 2 |
7-82580049-C-G | c.9855G>C | p.T3285= | Synonymous | 6/25 | - | 1 |
7-82580049-C-T | c.9855G>A | p.T3285= | Synonymous | 6/25 | - | 1 |
7-82580050-G-A | c.9854C>T | p.T3285M | Missense | 6/25 | - | 1 |
7-82580054-C-T | c.9850G>A | p.E3284K | Missense | 6/25 | - | 7 |
7-82580055-C-A | c.9849G>T | p.Q3283H | Missense | 6/25 | - | 4 |
7-82580055-C-G | c.9849G>C | p.Q3283H | Missense | 6/25 | - | 2 |
7-82580057-G-C | c.9847C>G | p.Q3283E | Missense | 6/25 | - | 3 |
7-82580058-C-T | c.9846G>A | p.R3282= | Synonymous | 6/25 | - | 1 |
7-82580057-GC-G | c.9846del | p.R3282Sfs*5 | Frameshift | 6/25 | - | 1 |
7-82580059-C-A | c.9845G>T | p.R3282M | Missense | 6/25 | - | 1 |
7-82580059-CT-TA | c.9844_9845delinsTA | p.R3282* | Nonsense | 6/25 | - | 1 |
7-82580060-T-A | c.9844A>T | p.R3282W | Missense | 6/25 | - | 2 |
7-82580064-C-A | c.9840G>T | p.M3280I | Missense | 6/25 | - | 2 |
7-82580064-C-G | c.9840G>C | p.M3280I | Missense | 6/25 | - | 4 |
7-82580064-C-T | c.9840G>A | p.M3280I | Missense | 6/25 | - | 4 |
7-82580066-T-A | c.9838A>T | p.M3280L | Missense | 6/25 | - | 1 |
7-82580066-T-C | c.9838A>G | p.M3280V | Missense | 6/25 | - | 1 |
7-82580073-G-A | c.9831C>T | p.A3277= | Synonymous | 6/25 | - | 1 |
7-82580073-G-C | c.9831C>G | p.A3277= | Synonymous | 6/25 | - | 1 |
7-82580073-G-T | c.9831C>A | p.A3277= | Synonymous | 6/25 | - | 1 |
7-82580075-C-T | c.9829G>A | p.A3277T | Missense | 6/25 | - | 1 |
7-82580079-C-G | c.9825G>C | p.R3275= | Synonymous | 6/25 | - | 1 |
7-82580080-C-G | c.9824G>C | p.R3275P | Missense | 6/25 | - | 1 |
7-82580080-C-T | c.9824G>A | p.R3275Q | Missense | 6/25 | - | 1 |
7-82580081-G-A | c.9823C>T | p.R3275W | Missense | 6/25 | - | 1 |
7-82580084-C-T | c.9820G>A | p.E3274K | Missense | 6/25 | - | 2 |
7-82580085-T-G | c.9819A>C | p.E3273D | Missense | 6/25 | - | 2 |
7-82580090-C-T | c.9814G>A | p.E3272K | Missense | 6/25 | - | 2 |
7-82580096-G-T | c.9808C>A | p.Q3270K | Missense | 6/25 | - | 1 |
7-82580097-A-C | c.9807T>G | p.F3269L | Missense | 6/25 | - | 1 |
7-82580102-G-A | c.9802C>T | p.L3268F | Missense | 6/25 | - | 1 |
7-82580105-G-A | c.9799C>T | p.L3267F | Missense | 6/25 | - | 1 |
7-82580105-G-T | c.9799C>A | p.L3267I | Missense | 6/25 | - | 2 |
7-82580108-G-T | c.9796C>A | p.H3266N | Missense | 6/25 | - | 1 |
7-82580109-T-C | c.9795A>G | p.Q3265= | Synonymous | 6/25 | - | 1 |
7-82580109-T-G | c.9795A>C | p.Q3265H | Missense | 6/25 | - | 1 |
7-82580112-C-T | c.9792G>A | p.K3264= | Synonymous | 6/25 | - | 2 |
7-82580115-C-A | c.9789G>T | p.M3263I | Missense | 6/25 | - | 2 |
7-82580115-C-G | c.9789G>C | p.M3263I | Missense | 6/25 | - | 1 |
7-82580115-C-T | c.9789G>A | p.M3263I | Missense | 6/25 | - | 6 |
7-82580119-G-A | c.9785C>T | p.S3262F | Missense | 6/25 | - | 1 |
7-82580119-G-T | c.9785C>A | p.S3262Y | Missense | 6/25 | - | 1 |
7-82580130-C-T | c.9774G>A | p.E3258= | Synonymous | 6/25 | - | 2 |
7-82580131-T-A | c.9773A>T | p.E3258V | Missense | 6/25 | - | 1 |
7-82580131-T-C | c.9773A>G | p.E3258G | Missense | 6/25 | - | 4 |
7-82580133-C-T | c.9771G>A | p.L3257= | Synonymous | 6/25 | - | 1 |
7-82580135-A-AT | c.9768_9769insA | p.L3257Ifs*38 | Frameshift | 6/25 | - | 1 |
7-82580135-A-G | c.9769T>C | p.L3257= | Synonymous | 6/25 | - | 3 |
7-82580136-C-A | c.9768G>T | p.K3256N | Missense | 6/25 | - | 1 |
7-82580137-T-TG | c.9766_9767insC | p.K3256Tfs*39 | Frameshift | 6/25 | - | 1 |
7-82580144-G-A | c.9760C>T | p.Q3254* | Nonsense | 6/25 | - | 1 |
7-82580146-A-G | c.9758T>C | p.V3253A | Missense | 6/25 | - | 3 |
7-82580150-T-C | c.9754A>G | p.M3252V | Missense | 6/25 | - | 1 |
7-82580151-G-A | c.9753C>T | p.I3251= | Synonymous | 6/25 | - | 3 |
7-82580151-G-T | c.9753C>A | p.I3251= | Synonymous | 6/25 | - | 1 |
7-82580153-T-C | c.9751A>G | p.I3251V | Missense | 6/25 | - | 1 |
7-82580154-C-A | c.9750G>T | p.K3250N | Missense | 6/25 | - | 1 |
7-82580154-C-G | c.9750G>C | p.K3250N | Missense | 6/25 | - | 5 |
7-82580158-T-C | c.9746A>G | p.E3249G | Missense | 6/25 | - | 1 |
7-82580159-C-T | c.9745G>A | p.E3249K | Missense | 6/25 | - | 3 |
7-82580161-T-C | c.9743A>G | p.Q3248R | Missense | 6/25 | - | 1 |
7-82580165-C-T | c.9739G>A | p.E3247K | Missense | 6/25 | - | 1 |
7-82580167-C-A | c.9737G>T | p.R3246L | Missense | 6/25 | - | 2 |
7-82580167-C-T | c.9737G>A | p.R3246Q | Missense | 6/25 | - | 10 |
7-82580168-G-A | c.9736C>T | p.R3246* | Nonsense | 6/25 | - | 6 |
7-82580169-G-A | c.9735C>T | p.F3245= | Synonymous | 6/25 | - | 4 |
7-82580171-A-C | c.9733T>G | p.F3245V | Missense | 6/25 | - | 1 |
7-82580173-C-T | c.9731G>A | p.R3244K | Missense | 6/25 | - | 2 |
7-82580177-G-A | c.9727C>T | p.Q3243* | Nonsense | 6/25 | - | 3 |
7-82580181-T-C | c.9723A>G | p.E3241= | Synonymous | 6/25 | - | 1 |
7-82580183-C-A | c.9721G>T | p.E3241* | Nonsense | 6/25 | - | 1 |
7-82580183-C-G | c.9721G>C | p.E3241Q | Missense | 6/25 | - | 1 |
7-82580183-C-T | c.9721G>A | p.E3241K | Missense | 6/25 | - | 6 |
7-82580184-C-T | c.9720G>A | p.Q3240= | Synonymous | 6/25 | - | 3 |
7-82580187-ACG-CTT | c.9715_9717delinsAAG | p.R3239K | Missense | 6/25 | - | 1 |
7-82580187-A-G | c.9717T>C | p.R3239= | Synonymous | 6/25 | - | 2 |
7-82580188-C-T | c.9716G>A | p.R3239H | Missense | 6/25 | - | 6 |
7-82580189-G-A | c.9715C>T | p.R3239C | Missense | 6/25 | - | 3 |
7-82580189-GT-G | c.9714del | p.E3238Dfs*26 | Frameshift | 6/25 | - | 1 |
7-82580192-C-CA | c.9711_9712insT | p.E3238* | Nonsense | 6/25 | - | 2 |
7-82580192-C-T | c.9712G>A | p.E3238K | Missense | 6/25 | - | 3 |
7-82580193-C-T | c.9711G>A | p.W3237* | Nonsense | 6/25 | - | 3 |
7-82580191-TC-T | c.9712del | p.E3238Nfs*26 | Frameshift | 6/25 | - | 1 |
7-82580196-C-T | c.9708G>A | p.E3236= | Synonymous | 6/25 | - | 1 |
7-82580198-C-G | c.9706G>C | p.E3236Q | Missense | 6/25 | - | 2 |
7-82580198-C-T | c.9706G>A | p.E3236K | Missense | 6/25 | - | 1 |
7-82580199-C-T | c.9705G>A | p.L3235= | Synonymous | 6/25 | - | 1 |
7-82580201-A-G | c.9703T>C | p.L3235= | Synonymous | 6/25 | - | 2 |
7-82580204-C-A | c.9700G>T | p.E3234* | Nonsense | 6/25 | - | 1 |
7-82580204-C-T | c.9700G>A | p.E3234K | Missense | 6/25 | - | 2 |
7-82580205-C-T | c.9699G>A | p.E3233= | Synonymous | 6/25 | - | 1 |
7-82580206-T-A | c.9698A>T | p.E3233V | Missense | 6/25 | - | 1 |
7-82580207-C-A | c.9697G>T | p.E3233* | Nonsense | 6/25 | - | 2 |
7-82580207-C-T | c.9697G>A | p.E3233K | Missense | 6/25 | - | 3 |
7-82580214-G-A | c.9690C>T | p.R3230= | Synonymous | 6/25 | - | 4 |
7-82580216-G-A | c.9688C>T | p.R3230C | Missense | 6/25 | - | 2 |
7-82580216-G-T | c.9688C>A | p.R3230S | Missense | 6/25 | - | 2 |
7-82580217-C-T | c.9687G>A | p.Q3229= | Synonymous | 6/25 | - | 1 |
7-82580223-C-A | c.9681G>T | p.K3227N | Missense | 6/25 | - | 1 |
7-82580224-T-C | c.9680A>G | p.K3227R | Missense | 6/25 | - | 1 |
7-82580225-T-G | c.9679A>C | p.K3227Q | Missense | 6/25 | - | 1 |
7-82580228-T-G | c.9676A>C | p.I3226L | Missense | 6/25 | - | 2 |
7-82580229-T-A | c.9675A>T | p.K3225N | Missense | 6/25 | - | 4 |
7-82580229-T-G | c.9675A>C | p.K3225N | Missense | 6/25 | - | 1 |
7-82580230-T-G | c.9674A>C | p.K3225T | Missense | 6/25 | - | 3 |
7-82580231-T-C | c.9673A>G | p.K3225E | Missense | 6/25 | - | 1 |
7-82580232-C-T | c.9672G>A | p.E3224= | Synonymous | 6/25 | - | 4 |
7-82580234-C-T | c.9670G>A | p.E3224K | Missense | 6/25 | - | 4 |
7-82580240-C-G | c.9664G>C | p.E3222Q | Missense | 6/25 | - | 2 |
7-82580240-C-T | c.9664G>A | p.E3222K | Missense | 6/25 | - | 5 |
7-82580241-C-A | c.9663G>T | p.L3221= | Synonymous | 6/25 | - | 1 |
7-82580241-C-G | c.9663G>C | p.L3221= | Synonymous | 6/25 | - | 1 |
7-82580241-C-T | c.9663G>A | p.L3221= | Synonymous | 6/25 | - | 2 |
7-82580243-G-A | c.9661C>T | p.L3221= | Synonymous | 6/25 | - | 1 |
7-82580244-G-A | c.9660C>T | p.L3220= | Synonymous | 6/25 | - | 2 |
7-82580245-A-C | c.9659T>G | p.L3220R | Missense | 6/25 | - | 1 |
7-82580246-G-A | c.9658C>T | p.L3220F | Missense | 6/25 | - | 1 |
7-82580251-C-T | c.9653G>A | p.R3218H | Missense | 6/25 | - | 6 |
7-82580252-G-A | c.9652C>T | p.R3218C | Missense | 6/25 | - | 4 |
7-82580253-C-T | c.9651G>A | p.E3217= | Synonymous | 6/25 | - | 1 |
7-82580255-C-T | c.9649G>A | p.E3217K | Missense | 6/25 | - | 2 |
7-82580256-C-T | c.9648G>A | p.L3216= | Synonymous | 6/25 | - | 2 |
7-82580258-A-C | c.9646T>G | p.L3216V | Missense | 6/25 | - | 4 |
7-82580258-A-G | c.9646T>C | p.L3216= | Synonymous | 6/25 | - | 1 |
7-82580261-C-A | c.9643G>T | p.D3215Y | Missense | 6/25 | - | 1 |
7-82580261-C-G | c.9643G>C | p.D3215H | Missense | 6/25 | - | 3 |
7-82580261-C-T | c.9643G>A | p.D3215N | Missense | 6/25 | - | 3 |
7-82580265-C-A | c.9639G>T | p.Q3213H | Missense | 6/25 | - | 1 |
7-82580265-C-G | c.9639G>C | p.Q3213H | Missense | 6/25 | - | 1 |
7-82580267-G-C | c.9637C>G | p.Q3213E | Missense | 6/25 | - | 1 |
7-82580271-C-T | c.9633G>A | p.Q3211= | Synonymous | 6/25 | - | 1 |
7-82580275-T-A | c.9629A>T | p.Q3210L | Missense | 6/25 | - | 2 |
7-82580282-C-A | c.9622G>T | p.D3208Y | Missense | 6/25 | - | 3 |
7-82580283-T-A | c.9621A>T | p.E3207D | Missense | 6/25 | - | 1 |
7-82580285-C-T | c.9619G>A | p.E3207K | Missense | 6/25 | - | 1 |
7-82580288-C-A | c.9616G>T | p.E3206* | Nonsense | 6/25 | - | 1 |
7-82580290-G-C | c.9614C>G | p.P3205R | Missense | 6/25 | - | 1 |
7-82580292-G-A | c.9612C>T | p.V3204= | Synonymous | 6/25 | - | 2 |
7-82580293-A-T | c.9611T>A | p.V3204D | Missense | 6/25 | - | 3 |
7-82580294-C-T | c.9610G>A | p.V3204I | Missense | 6/25 | - | 1 |
7-82580305-G-C | c.9599C>G | p.A3200G | Missense | 6/25 | - | 1 |
7-82580312-C-T | c.9592G>A | p.E3198K | Missense | 6/25 | - | 6 |
7-82580313-A-C | c.9591T>G | p.D3197E | Missense | 6/25 | - | 2 |
7-82580313-A-T | c.9591T>A | p.D3197E | Missense | 6/25 | - | 5 |
7-82580314-T-C | c.9590A>G | p.D3197G | Missense | 6/25 | - | 1 |
7-82580315-C-T | c.9589G>A | p.D3197N | Missense | 6/25 | - | 2 |
7-82580317-C-T | c.9587G>A | p.G3196E | Missense | 6/25 | - | 7 |
7-82580318-C-A | c.9586G>T | p.G3196* | Nonsense | 6/25 | - | 2 |
7-82580325-T-C | c.9579A>G | p.E3193= | Synonymous | 6/25 | - | 1 |
7-82580326-T-C | c.9578A>G | p.E3193G | Missense | 6/25 | - | 1 |
7-82580327-C-T | c.9577G>A | p.E3193K | Missense | 6/25 | - | 2 |
7-82580330-G-A | c.9574C>T | p.P3192S | Missense | 6/25 | - | 5 |
7-82580333-A-T | c.9571T>A | p.F3191I | Missense | 6/25 | - | 1 |
7-82580336-C-A | c.9568G>T | p.V3190L | Missense | 6/25 | - | 1 |
7-82580336-C-G | c.9568G>C | p.V3190L | Missense | 6/25 | - | 2 |
7-82580339-C-A | c.9565G>T | p.E3189* | Nonsense | 6/25 | - | 1 |
7-82580339-C-T | c.9565G>A | p.E3189K | Missense | 6/25 | - | 3 |
7-82580340-G-A | c.9564C>T | p.S3188= | Synonymous | 6/25 | - | 1 |
7-82580340-G-C | c.9564C>G | p.S3188= | Synonymous | 6/25 | - | 1 |
7-82580340-G-T | c.9564C>A | p.S3188= | Synonymous | 6/25 | - | 1 |
7-82580341-G-A | c.9563C>T | p.S3188F | Missense | 6/25 | - | 2 |
7-82580341-G-C | c.9563C>G | p.S3188C | Missense | 6/25 | - | 2 |
7-82580345-C-T | c.9559G>A | p.A3187T | Missense | 6/25 | - | 2 |
7-82580347-TG-T | c.9557del | p.T3186Kfs*17 | Frameshift | 6/25 | - | 1 |
7-82580348-T-A | c.9556A>T | p.T3186S | Missense | 6/25 | - | 1 |
7-82580350-G-A | c.9554C>T | p.T3185I | Missense | 6/25 | - | 1 |
7-82580352-T-C | c.9552A>G | p.L3184= | Synonymous | 6/25 | - | 1 |
7-82580354-A-G | c.9550T>C | p.L3184= | Synonymous | 6/25 | - | 1 |
7-82580354-A-T | c.9550T>A | p.L3184I | Missense | 6/25 | - | 2 |
7-82580355-A-G | c.9549T>C | p.T3183= | Synonymous | 6/25 | - | 1 |
7-82580357-T-C | c.9547A>G | p.T3183A | Missense | 6/25 | - | 1 |
7-82580360-G-A | c.9544C>T | p.P3182S | Missense | 6/25 | - | 4 |
7-82580361-A-G | c.9543T>C | p.V3181= | Synonymous | 6/25 | - | 1 |
7-82580363-C-A | c.9541G>T | p.V3181F | Missense | 6/25 | - | 1 |
7-82580365-G-A | c.9539C>T | p.S3180F | Missense | 6/25 | - | 2 |
7-82580365-G-C | c.9539C>G | p.S3180C | Missense | 6/25 | - | 1 |
7-82580365-G-T | c.9539C>A | p.S3180Y | Missense | 6/25 | - | 1 |
7-82580369-C-G | c.9535G>C | p.D3179H | Missense | 6/25 | - | 5 |
7-82580369-C-T | c.9535G>A | p.D3179N | Missense | 6/25 | - | 1 |
7-82580373-C-A | c.9531G>T | p.T3177= | Synonymous | 6/25 | - | 3 |
7-82580373-C-G | c.9531G>C | p.T3177= | Synonymous | 6/25 | - | 1 |
7-82580373-C-T | c.9531G>A | p.T3177= | Synonymous | 6/25 | - | 6 |
7-82580374-G-A | c.9530C>T | p.T3177M | Missense | 6/25 | - | 5 |
7-82580380-G-A | c.9524C>T | p.A3175V | Missense | 6/25 | - | 1 |
7-82580385-A-C | c.9519T>G | p.L3173= | Synonymous | 6/25 | - | 2 |
7-82580385-A-G | c.9519T>C | p.L3173= | Synonymous | 6/25 | - | 2 |
7-82580389-G-A | c.9515C>T | p.S3172F | Missense | 6/25 | - | 5 |
7-82580393-C-T | c.9511G>A | p.E3171K | Missense | 6/25 | - | 2 |
7-82580394-C-A | c.9510G>T | p.M3170I | Missense | 6/25 | - | 1 |
7-82580398-G-T | c.9506C>A | p.T3169N | Missense | 6/25 | - | 1 |
7-82580399-T-A | c.9505A>T | p.T3169S | Missense | 6/25 | - | 1 |
7-82580403-A-C | c.9501T>G | p.T3167= | Synonymous | 6/25 | - | 1 |
7-82580414-T-G | c.9490A>C | p.S3164R | Missense | 6/25 | - | 1 |
7-82580425-T-A | c.9479A>T | p.D3160V | Missense | 6/25 | - | 2 |
7-82580426-C-G | c.9478G>C | p.D3160H | Missense | 6/25 | - | 2 |
7-82580426-C-T | c.9478G>A | p.D3160N | Missense | 6/25 | - | 1 |
7-82580429-T-C | c.9475A>G | p.I3159V | Missense | 6/25 | - | 3 |
7-82580440-G-A | c.9464C>T | p.A3155V | Missense | 6/25 | - | 1 |
7-82580441-C-A | c.9463G>T | p.A3155S | Missense | 6/25 | - | 1 |
7-82580443-A-C | c.9461T>G | p.I3154S | Missense | 6/25 | - | 3 |
7-82580447-C-G | c.9457G>C | p.D3153H | Missense | 6/25 | - | 1 |
7-82580447-C-T | c.9457G>A | p.D3153N | Missense | 6/25 | - | 1 |
7-82580448-C-A | c.9456G>T | p.T3152= | Synonymous | 6/25 | - | 3 |
7-82580448-C-G | c.9456G>C | p.T3152= | Synonymous | 6/25 | - | 1 |
7-82580448-C-T | c.9456G>A | p.T3152= | Synonymous | 6/25 | - | 4 |
7-82580449-G-A | c.9455C>T | p.T3152M | Missense | 6/25 | - | 3 |
7-82580453-C-T | c.9451G>A | p.E3151K | Missense | 6/25 | - | 4 |
7-82580459-C-A | c.9445G>T | p.A3149S | Missense | 6/25 | - | 1 |
7-82580459-C-T | c.9445G>A | p.A3149T | Missense | 6/25 | - | 3 |
7-82580461-C-T | c.9443G>A | p.G3148D | Missense | 6/25 | - | 3 |
7-82580462-C-T | c.9442G>A | p.G3148S | Missense | 6/25 | - | 4 |
7-82580469-T-A | c.9435A>T | p.I3145= | Synonymous | 6/25 | - | 1 |
7-82580470-A-T | c.9434T>A | p.I3145K | Missense | 6/25 | - | 1 |
7-82580472-A-C | c.9432T>G | p.F3144L | Missense | 6/25 | - | 1 |
7-82580472-A-T | c.9432T>A | p.F3144L | Missense | 6/25 | - | 1 |
7-82580474-A-G | c.9430T>C | p.F3144L | Missense | 6/25 | - | 1 |
7-82580478-T-C | c.9426A>G | p.S3142= | Synonymous | 6/25 | - | 1 |
7-82580479-G-A | c.9425C>T | p.S3142L | Missense | 6/25 | - | 4 |
7-82580482-C-G | c.9422G>C | p.R3141T | Missense | 6/25 | - | 1 |
7-82580482-C-T | c.9422G>A | p.R3141K | Missense | 6/25 | - | 3 |
7-82580483-T-A | c.9421A>T | p.R3141* | Nonsense | 6/25 | - | 1 |
7-82580486-G-A | c.9418C>T | p.P3140S | Missense | 6/25 | - | 1 |
7-82580486-G-C | c.9418C>G | p.P3140A | Missense | 6/25 | - | 1 |
7-82580493-C-T | c.9411G>A | p.Q3137= | Synonymous | 6/25 | - | 1 |
7-82580501-G-A | c.9403C>T | p.H3135Y | Missense | 6/25 | - | 1 |
7-82580503-T-C | c.9401A>G | p.H3134R | Missense | 6/25 | - | 1 |
7-82580504-G-A | c.9400C>T | p.H3134Y | Missense | 6/25 | - | 1 |
7-82580505-C-A | c.9399G>T | p.M3133I | Missense | 6/25 | - | 1 |
7-82580505-C-G | c.9399G>C | p.M3133I | Missense | 6/25 | - | 1 |
7-82580505-C-T | c.9399G>A | p.M3133I | Missense | 6/25 | - | 1 |
7-82580508-G-T | c.9396C>A | p.A3132= | Synonymous | 6/25 | - | 2 |
7-82580514-T-A | c.9390A>T | p.L3130F | Missense | 6/25 | - | 1 |
7-82580514-T-G | c.9390A>C | p.L3130F | Missense | 6/25 | - | 2 |
7-82580517-T-A | c.9387A>T | p.S3129= | Synonymous | 6/25 | - | 2 |
7-82580517-T-C | c.9387A>G | p.S3129= | Synonymous | 6/25 | - | 3 |
7-82580517-T-G | c.9387A>C | p.S3129= | Synonymous | 6/25 | - | 5 |
7-82580518-G-A | c.9386C>T | p.S3129L | Missense | 6/25 | - | 6 |
7-82580523-C-A | c.9381G>T | p.V3127= | Synonymous | 6/25 | - | 3 |
7-82580523-C-G | c.9381G>C | p.V3127= | Synonymous | 6/25 | - | 2 |
7-82580523-C-T | c.9381G>A | p.V3127= | Synonymous | 6/25 | - | 2 |
7-82580525-C-T | c.9379G>A | p.V3127M | Missense | 6/25 | - | 1 |
7-82580527-G-C | c.9377C>G | p.A3126G | Missense | 6/25 | - | 1 |
7-82580528-C-T | c.9376G>A | p.A3126T | Missense | 6/25 | - | 1 |
7-82580533-AG-A | c.9371del | p.A3124Vfs*4 | Frameshift | 6/25 | - | 1 |
7-82580534-C-G | c.9370G>C | p.A3124P | Missense | 6/25 | - | 1 |
7-82580534-C-T | c.9370G>A | p.A3124T | Missense | 6/25 | - | 3 |
7-82580533-GC-G | c.9370del | p.A3124Lfs*4 | Frameshift | 6/25 | - | 1 |
7-82580535-C-T | c.9369G>A | p.T3123= | Synonymous | 6/25 | - | 4 |
7-82580536-G-A | c.9368C>T | p.T3123M | Missense | 6/25 | - | 1 |
7-82580538-A-G | c.9366T>C | p.H3122= | Synonymous | 6/25 | - | 1 |
7-82580540-G-A | c.9364C>T | p.H3122Y | Missense | 6/25 | - | 7 |
7-82580543-T-C | c.9361A>G | p.I3121V | Missense | 6/25 | - | 1 |
7-82580545-C-T | c.9359G>A | p.G3120D | Missense | 6/25 | - | 1 |
7-82580554-T-C | c.9350A>G | p.D3117G | Missense | 6/25 | - | 1 |
7-82580555-C-T | c.9349G>A | p.D3117N | Missense | 6/25 | - | 6 |
7-82580556-C-T | c.9348G>A | p.R3116= | Synonymous | 6/25 | - | 4 |
7-82580557-C-T | c.9347G>A | p.R3116K | Missense | 6/25 | - | 2 |
7-82580559-C-T | c.9345G>A | p.V3115= | Synonymous | 6/25 | - | 3 |
7-82580561-C-A | c.9343G>T | p.V3115L | Missense | 6/25 | - | 1 |
7-82580561-C-G | c.9343G>C | p.V3115L | Missense | 6/25 | - | 1 |
7-82580561-C-T | c.9343G>A | p.V3115M | Missense | 6/25 | - | 3 |
7-82580566-G-C | c.9338C>G | p.T3113S | Missense | 6/25 | - | 1 |
7-82580567-T-A | c.9337A>T | p.T3113S | Missense | 6/25 | - | 2 |
7-82580567-T-C | c.9337A>G | p.T3113A | Missense | 6/25 | - | 1 |
7-82580569-C-T | c.9335G>A | p.S3112N | Missense | 6/25 | - | 1 |
7-82580571-G-A | c.9333C>T | p.F3111= | Synonymous | 6/25 | - | 4 |
7-82580571-GA-G | c.9332del | p.F3111Sfs*5 | Frameshift | 6/25 | - | 1 |
7-82580577-G-A | c.9327C>T | p.S3109= | Synonymous | 6/25 | - | 4 |
7-82580577-G-C | c.9327C>G | p.S3109= | Synonymous | 6/25 | - | 1 |
7-82580577-G-T | c.9327C>A | p.S3109= | Synonymous | 6/25 | - | 1 |
7-82580581-C-A | c.9323G>T | p.G3108V | Missense | 6/25 | - | 1 |
7-82580581-C-G | c.9323G>C | p.G3108A | Missense | 6/25 | - | 1 |
7-82580585-G-A | c.9319C>T | p.P3107S | Missense | 6/25 | - | 1 |
7-82580589-T-A | c.9315A>T | p.T3105= | Synonymous | 6/25 | - | 1 |
7-82580608-GA-AG | c.9295_9296delinsCT | p.S3099L | Missense | 6/25 | - | 1 |
7-82580613-T-G | c.9291A>C | p.T3097= | Synonymous | 6/25 | - | 1 |
7-82580614-G-A | c.9290C>T | p.T3097I | Missense | 6/25 | - | 1 |
7-82580617-G-A | c.9287C>T | p.P3096L | Missense | 6/25 | - | 2 |
7-82580618-G-C | c.9286C>G | p.P3096A | Missense | 6/25 | - | 1 |
7-82580619-A-C | c.9285T>G | p.T3095= | Synonymous | 6/25 | - | 1 |
7-82580619-A-G | c.9285T>C | p.T3095= | Synonymous | 6/25 | - | 1 |
7-82580619-A-T | c.9285T>A | p.T3095= | Synonymous | 6/25 | - | 1 |
7-82580620-G-A | c.9284C>T | p.T3095I | Missense | 6/25 | - | 1 |
7-82580620-G-C | c.9284C>G | p.T3095S | Missense | 6/25 | - | 1 |
7-82580621-T-A | c.9283A>T | p.T3095S | Missense | 6/25 | - | 1 |