PCLO

PCLO piccolo presynaptic cytomatrix protein

Annotation transcript: NM_033026.6

8752 unique variant annotations were identified in 1155 publications

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