Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
19-37342146-T-G | c.-122+276T>G | - | intron_variant | - | 1/2 | 1 |
19-37346644-G-A | c.-47+3838G>A | - | intron_variant | - | 2/2 | 1 |
19-37353791-C-T | c.-47+10985C>T | - | intron_variant | - | 2/2 | 1 |
19-37355436-A-T | c.-46-12251A>T | - | IntronicSNV | - | 2/2 | 1 |
19-37367132-A-G | c.-46-555A>G | - | IntronicSNV | - | 2/2 | 1 |
19-37367734-T-G | c.2T>G | p.M1? | Missense | 3/3 | - | 1 |
19-37367735-G-T | c.3G>T | p.M1? | Missense | 3/3 | - | 1 |
19-37367738-A-T | c.6A>T | p.E2D | Missense | 3/3 | - | 1 |
19-37367736-GA-G | c.8del | p.N3Tfs*36 | Frameshift | 3/3 | - | 2 |
19-37367746-C-T | c.14C>T | p.T5I | Missense | 3/3 | - | 1 |
19-37367749-A-C | c.17A>C | p.K6T | Missense | 3/3 | - | 1 |
19-37367757-A-AT | c.27dup | p.E10* | Nonsense | 3/3 | - | 1 |
19-37367764-G-T | c.32G>T | p.C11F | Missense | 3/3 | - | 3 |
19-37367766-T-C | c.34T>C | p.S12P | Missense | 3/3 | - | 1 |
19-37367781-G-C | c.49G>C | p.D17H | Missense | 3/3 | - | 1 |
19-37367781-G-T | c.49G>T | p.D17Y | Missense | 3/3 | - | 2 |
19-37367788-A-G | c.56A>G | p.E19G | Missense | 3/3 | - | 6 |
19-37367788-A-T | c.56A>T | p.E19V | Missense | 3/3 | - | 2 |
19-37367789-A-C | c.57A>C | p.E19D | Missense | 3/3 | - | 1 |
19-37367789-A-T | c.57A>T | p.E19D | Missense | 3/3 | - | 2 |
19-37367791-G-T | c.59G>T | p.C20F | Missense | 3/3 | - | 2 |
19-37367798-C-T | c.66C>T | p.N22= | Synonymous | 3/3 | - | 2 |
19-37367799-C-T | c.67C>T | p.Q23* | Nonsense | 3/3 | - | 1 |
19-37367802-T-C | c.70T>C | p.F24L | Missense | 3/3 | - | 1 |
19-37367807-G-C | c.75G>C | p.E25D | Missense | 3/3 | - | 1 |
19-37367808-A-G | c.76A>G | p.R26G | Missense | 3/3 | - | 1 |
19-37367821-C-T | c.89C>T | p.S30F | Missense | 3/3 | - | 1 |
19-37367823-C-T | c.91C>T | p.Q31* | Nonsense | 3/3 | - | 1 |
19-37367825-G-A | c.93G>A | p.Q31= | Synonymous | 3/3 | - | 1 |
19-37367829-G-A | c.97G>A | p.G33R | Missense | 3/3 | - | 1 |
19-37367829-G-C | c.97G>C | p.G33R | Missense | 3/3 | - | 1 |
19-37367830-G-A | c.98G>A | p.G33E | Missense | 3/3 | - | 1 |
19-37367833-A-G | c.101A>G | p.H34R | Missense | 3/3 | - | 3 |
19-37367838-AG-CT | c.106_107inv | p.S36L | Missense | 3/3 | - | 1 |
19-37367846-G-T | c.114G>T | p.M38I | Missense | 3/3 | - | 4 |
19-37367850-T-G | c.118T>G | p.F40V | Missense | 3/3 | - | 1 |
19-37367862-G-A | c.130G>A | p.D44N | Missense | 3/3 | - | 2 |
19-37367862-G-T | c.130G>T | p.D44Y | Missense | 3/3 | - | 2 |
19-37367868-C-A | c.136C>A | p.P46T | Missense | 3/3 | - | 1 |
19-37367870-C-A | c.138C>A | p.P46= | Synonymous | 3/3 | - | 1 |
19-37367870-C-G | c.138C>G | p.P46= | Synonymous | 3/3 | - | 1 |
19-37367870-C-T | c.138C>T | p.P46= | Synonymous | 3/3 | - | 1 |
19-37367871-AC-GA | c.139_140delinsGA | p.T47D | Missense | 3/3 | - | 1 |
19-37367872-C-T | c.140C>T | p.T47I | Missense | 3/3 | - | 1 |
19-37367878-G-C | c.146G>C | p.S49T | Missense | 3/3 | - | 2 |
19-37367888-T-C | c.156T>C | p.H52= | Synonymous | 3/3 | - | 1 |
19-37367892-AGA-CAT | c.160_162delinsCAT | p.R54H | Missense | 3/3 | - | 1 |
19-37367893-G-A | c.161G>A | p.R54K | Missense | 3/3 | - | 1 |
19-37367893-G-T | c.161G>T | p.R54I | Missense | 3/3 | - | 7 |
19-37367894-A-C | c.162A>C | p.R54S | Missense | 3/3 | - | 1 |
19-37367894-A-T | c.162A>T | p.R54S | Missense | 3/3 | - | 1 |
19-37367897-T-G | c.165T>G | p.I55M | Missense | 3/3 | - | 1 |
19-37367899-A-C | c.167A>C | p.H56P | Missense | 3/3 | - | 1 |
19-37367904-G-C | c.172G>C | p.D58H | Missense | 3/3 | - | 1 |
19-37367907-G-A | c.175G>A | p.E59K | Missense | 3/3 | - | 5 |
19-37367912-A-G | c.180A>G | p.K60= | Synonymous | 3/3 | - | 2 |
19-37367913-C-T | c.181C>T | p.L61F | Missense | 3/3 | - | 1 |
19-37367916-C-T | c.184C>T | p.L62F | Missense | 3/3 | - | 6 |
19-37367926-A-T | c.194A>T | p.K65M | Missense | 3/3 | - | 1 |
19-37367930-A-T | c.198A>T | p.E66D | Missense | 3/3 | - | 1 |
19-37367932-G-T | c.200G>T | p.C67F | Missense | 3/3 | - | 1 |
19-37367939-G-T | c.207G>T | p.K69N | Missense | 3/3 | - | 1 |
19-37367940-G-A | c.208G>A | p.D70N | Missense | 3/3 | - | 1 |
19-37367945-T-G | c.213T>G | p.F71L | Missense | 3/3 | - | 1 |
19-37367946-AG-TA | c.214_215delinsTA | p.S72Y | Missense | 3/3 | - | 1 |
19-37367947-G-C | c.215G>C | p.S72T | Missense | 3/3 | - | 1 |
19-37367948-T-C | c.216T>C | p.S72= | Synonymous | 3/3 | - | 1 |
19-37367952-G-C | c.220G>C | p.V74L | Missense | 3/3 | - | 1 |
19-37367952-G-T | c.220G>T | p.V74L | Missense | 3/3 | - | 1 |
19-37367954-A-C | c.222A>C | p.V74= | Synonymous | 3/3 | - | 1 |
19-37367954-A-G | c.222A>G | p.V74= | Synonymous | 3/3 | - | 2 |
19-37367954-A-T | c.222A>T | p.V74= | Synonymous | 3/3 | - | 1 |
19-37367964-G-A | c.232G>A | p.V78I | Missense | 3/3 | - | 1 |
19-37367967-C-A | c.235C>A | p.R79= | Synonymous | 3/3 | - | 2 |
19-37367967-C-T | c.235C>T | p.R79* | Nonsense | 3/3 | - | 3 |
19-37367969-A-C | c.237A>C | p.R79= | Synonymous | 3/3 | - | 1 |
19-37367969-A-G | c.237A>G | p.R79= | Synonymous | 3/3 | - | 1 |
19-37367969-A-T | c.237A>T | p.R79= | Synonymous | 3/3 | - | 1 |
19-37367968-G-A | c.236G>A | p.R79Q | Missense | 3/3 | - | 3 |
19-37367968-G-T | c.236G>T | p.R79L | Missense | 3/3 | - | 1 |
19-37367974-A-G | c.242A>G | p.Q81R | Missense | 3/3 | - | 3 |
19-37367976-C-A | c.244C>A | p.R82= | Synonymous | 3/3 | - | 2 |
19-37367976-C-T | c.244C>T | p.R82* | Nonsense | 3/3 | - | 3 |
19-37367978-A-C | c.246A>C | p.R82= | Synonymous | 3/3 | - | 1 |
19-37367978-A-G | c.246A>G | p.R82= | Synonymous | 3/3 | - | 1 |
19-37367978-A-T | c.246A>T | p.R82= | Synonymous | 3/3 | - | 1 |
19-37367977-G-A | c.245G>A | p.R82Q | Missense | 3/3 | - | 7 |
19-37367977-G-C | c.245G>C | p.R82P | Missense | 3/3 | - | 1 |
19-37367980-T-C | c.248T>C | p.I83T | Missense | 3/3 | - | 1 |
19-37367982-C-T | c.250C>T | p.H84Y | Missense | 3/3 | - | 1 |
19-37367984-T-C | c.252T>C | p.H84= | Synonymous | 3/3 | - | 1 |
19-37367985-A-G | c.253A>G | p.T85A | Missense | 3/3 | - | 3 |
19-37367987-T-A | c.255T>A | p.T85= | Synonymous | 3/3 | - | 1 |
19-37367988-G-A | c.256G>A | p.G86S | Missense | 3/3 | - | 5 |
19-37367989-G-T | c.257G>T | p.G86V | Missense | 3/3 | - | 1 |
19-37367997-C-T | c.265C>T | p.P89S | Missense | 3/3 | - | 1 |
19-37367998-C-A | c.266C>A | p.P89H | Missense | 3/3 | - | 2 |
19-37367998-C-G | c.266C>G | p.P89R | Missense | 3/3 | - | 1 |
19-37368000-T-C | c.268T>C | p.Y90H | Missense | 3/3 | - | 1 |
19-37368003-G-T | c.271G>T | p.E91* | Nonsense | 3/3 | - | 1 |
19-37368008-C-T | c.276C>T | p.C92= | Synonymous | 3/3 | - | 1 |
19-37368012-G-T | c.280G>T | p.E94* | Nonsense | 3/3 | - | 1 |
19-37368023-G-C | c.291G>C | p.K97N | Missense | 3/3 | - | 1 |
19-37368023-G-T | c.291G>T | p.K97N | Missense | 3/3 | - | 1 |
19-37368025-C-T | c.293C>T | p.A98V | Missense | 3/3 | - | 1 |
19-37368026-C-A | c.294C>A | p.A98= | Synonymous | 3/3 | - | 2 |
19-37368026-C-G | c.294C>G | p.A98= | Synonymous | 3/3 | - | 1 |
19-37368026-C-T | c.294C>T | p.A98= | Synonymous | 3/3 | - | 1 |
19-37368030-G-A | c.298G>A | p.G100S | Missense | 3/3 | - | 1 |
19-37368034-G-A | c.302G>A | p.S101N | Missense | 3/3 | - | 1 |
19-37368036-G-A | c.304G>A | p.G102S | Missense | 3/3 | - | 1 |
19-37368042-A-C | c.310A>C | p.N104H | Missense | 3/3 | - | 1 |
19-37368044-C-T | c.312C>T | p.N104= | Synonymous | 3/3 | - | 1 |
19-37368045-C-A | c.313C>A | p.L105I | Missense | 3/3 | - | 1 |
19-37368046-T-A | c.314T>A | p.L105H | Missense | 3/3 | - | 1 |
19-37368055-A-T | c.323A>T | p.H108L | Missense | 3/3 | - | 5 |
19-37368059-A-G | c.327A>G | p.Q109= | Synonymous | 3/3 | - | 2 |
19-37368060-A-G | c.328A>G | p.R110G | Missense | 3/3 | - | 1 |
19-37368061-G-T | c.329G>T | p.R110I | Missense | 3/3 | - | 6 |
19-37368064-T-A | c.332T>A | p.I111N | Missense | 3/3 | - | 3 |
19-37368066-C-A | c.334C>A | p.H112N | Missense | 3/3 | - | 1 |
19-37368066-C-T | c.334C>T | p.H112Y | Missense | 3/3 | - | 4 |
19-37368068-T-C | c.336T>C | p.H112= | Synonymous | 3/3 | - | 1 |
19-37368074-T-A | c.342T>A | p.G114= | Synonymous | 3/3 | - | 1 |
19-37368076-A-G | c.344A>G | p.E115G | Missense | 3/3 | - | 1 |
19-37368077-G-C | c.345G>C | p.E115D | Missense | 3/3 | - | 1 |
19-37368077-G-T | c.345G>T | p.E115D | Missense | 3/3 | - | 1 |
19-37368078-A-T | c.346A>T | p.K116* | Nonsense | 3/3 | - | 1 |
19-37368085-T-A | c.353T>A | p.F118Y | Missense | 3/3 | - | 1 |
19-37368087-G-A | c.355G>A | p.E119K | Missense | 3/3 | - | 2 |
19-37368091-G-A | c.359G>A | p.C120Y | Missense | 3/3 | - | 1 |
19-37368094-A-G | c.362A>G | p.K121R | Missense | 3/3 | - | 3 |
19-37368096-G-A | c.364G>A | p.E122K | Missense | 3/3 | - | 1 |
19-37368100-G-A | c.368G>A | p.C123Y | Missense | 3/3 | - | 1 |
19-37368103-G-A | c.371G>A | p.G124E | Missense | 3/3 | - | 1 |
19-37368114-G-A | c.382G>A | p.G128S | Missense | 3/3 | - | 1 |
19-37368114-G-C | c.382G>C | p.G128R | Missense | 3/3 | - | 2 |
19-37368114-G-T | c.382G>T | p.G128C | Missense | 3/3 | - | 1 |
19-37368123-T-A | c.391T>A | p.S131T | Missense | 3/3 | - | 1 |
19-37368124-C-A | c.392C>A | p.S131* | Nonsense | 3/3 | - | 1 |
19-37368124-C-G | c.392C>G | p.S131* | Nonsense | 3/3 | - | 1 |
19-37368132-A-G | c.400A>G | p.T134A | Missense | 3/3 | - | 1 |
19-37368133-C-T | c.401C>T | p.T134I | Missense | 3/3 | - | 5 |
19-37368135-C-G | c.403C>G | p.H135D | Missense | 3/3 | - | 1 |
19-37368135-C-T | c.403C>T | p.H135Y | Missense | 3/3 | - | 7 |
19-37368138-C-T | c.406C>T | p.H136Y | Missense | 3/3 | - | 1 |
19-37368139-A-G | c.407A>G | p.H136R | Missense | 3/3 | - | 1 |
19-37368145-G-T | c.413G>T | p.R138I | Missense | 3/3 | - | 1 |
19-37368144-A-C | c.412A>C | p.R138= | Synonymous | 3/3 | - | 1 |
19-37368146-A-G | c.414A>G | p.R138= | Synonymous | 3/3 | - | 1 |
19-37368151-A-G | c.419A>G | p.H140R | Missense | 3/3 | - | 1 |
19-37368151-A-T | c.419A>T | p.H140L | Missense | 3/3 | - | 1 |
19-37368157-G-A | c.425G>A | p.G142D | Missense | 3/3 | - | 1 |
19-37368162-A-G | c.430A>G | p.K144E | Missense | 3/3 | - | 2 |
19-37368166-C-CT | c.434_435insT | p.Y146Lfs*2 | Frameshift | 3/3 | - | 1 |
19-37368168-T-TA | c.437dup | p.Y146* | Nonsense | 3/3 | - | 1 |
19-37368169-A-G | c.437A>G | p.Y146C | Missense | 3/3 | - | 3 |
19-37368169-TA-T | c.437del | p.Y146Lfs*60 | Frameshift | 3/3 | - | 1 |
19-37368186-G-A | c.454G>A | p.G152R | Missense | 3/3 | - | 1 |
19-37368187-G-T | c.455G>T | p.G152V | Missense | 3/3 | - | 2 |
19-37368191-A-C | c.459A>C | p.K153N | Missense | 3/3 | - | 1 |
19-37368191-A-T | c.459A>T | p.K153N | Missense | 3/3 | - | 3 |
19-37368198-AG-TT | c.466_467delinsTT | p.S156F | Missense | 3/3 | - | 1 |
19-37368198-AGT-TGA | c.466_468delinsTGA | p.S156* | Nonsense | 3/3 | - | 1 |
19-37368199-G-C | c.467G>C | p.S156T | Missense | 3/3 | - | 1 |
19-37368202-T-G | c.470T>G | p.F157C | Missense | 3/3 | - | 1 |
19-37368205-G-T | c.473G>T | p.G158V | Missense | 3/3 | - | 1 |
19-37368211-G-T | c.479G>T | p.G160V | Missense | 3/3 | - | 1 |
19-37368219-C-A | c.487C>A | p.R163= | Synonymous | 3/3 | - | 2 |
19-37368219-C-T | c.487C>T | p.R163* | Nonsense | 3/3 | - | 3 |
19-37368221-A-C | c.489A>C | p.R163= | Synonymous | 3/3 | - | 1 |
19-37368221-A-G | c.489A>G | p.R163= | Synonymous | 3/3 | - | 1 |
19-37368221-A-T | c.489A>T | p.R163= | Synonymous | 3/3 | - | 1 |
19-37368220-G-A | c.488G>A | p.R163Q | Missense | 3/3 | - | 2 |
19-37368220-G-T | c.488G>T | p.R163L | Missense | 3/3 | - | 1 |
19-37368227-G-C | c.495G>C | p.Q165H | Missense | 3/3 | - | 1 |
19-37368230-C-A | c.498C>A | p.I166= | Synonymous | 3/3 | - | 4 |
19-37368230-C-T | c.498C>T | p.I166= | Synonymous | 3/3 | - | 4 |
19-37368234-C-T | c.502C>T | p.H168Y | Missense | 3/3 | - | 1 |
19-37368236-C-G | c.504C>G | p.H168Q | Missense | 3/3 | - | 1 |
19-37368238-G-A | c.506G>A | p.S169N | Missense | 3/3 | - | 2 |
19-37368243-G-T | c.511G>T | p.E171* | Nonsense | 3/3 | - | 1 |
19-37368250-C-T | c.518C>T | p.P173L | Missense | 3/3 | - | 1 |
19-37368251-T-A | c.519T>A | p.P173= | Synonymous | 3/3 | - | 2 |
19-37368251-T-C | c.519T>C | p.P173= | Synonymous | 3/3 | - | 1 |
19-37368251-T-G | c.519T>G | p.P173= | Synonymous | 3/3 | - | 1 |
19-37368254-T-G | c.522T>G | p.Y174* | Nonsense | 3/3 | - | 1 |
19-37368259-G-A | c.527G>A | p.C176Y | Missense | 3/3 | - | 1 |
19-37368268-G-A | c.536G>A | p.C179Y | Missense | 3/3 | - | 1 |
19-37368272-G-A | c.540G>A | p.G180= | Synonymous | 3/3 | - | 1 |
19-37368274-A-C | c.542A>C | p.K181T | Missense | 3/3 | - | 1 |
19-37368278-C-A | c.546C>A | p.S182= | Synonymous | 3/3 | - | 1 |
19-37368278-C-G | c.546C>G | p.S182= | Synonymous | 3/3 | - | 1 |
19-37368278-C-T | c.546C>T | p.S182= | Synonymous | 3/3 | - | 1 |
19-37368294-G-A | c.562G>A | p.A188T | Missense | 3/3 | - | 3 |
19-37368295-C-T | c.563C>T | p.A188V | Missense | 3/3 | - | 2 |
19-37368297-C-T | c.565C>T | p.L189F | Missense | 3/3 | - | 2 |
19-37368301-T-C | c.569T>C | p.I190T | Missense | 3/3 | - | 1 |
19-37368303-CG-AA | c.571_572delinsAA | p.R191K | Missense | 3/3 | - | 1 |
19-37368303-C-T | c.571C>T | p.R191W | Missense | 3/3 | - | 1 |
19-37368305-G-A | c.573G>A | p.R191= | Synonymous | 3/3 | - | 1 |
19-37368305-G-T | c.573G>T | p.R191= | Synonymous | 3/3 | - | 2 |
19-37368309-C-T | c.577C>T | p.H193Y | Missense | 3/3 | - | 1 |
19-37368313-G-T | c.581G>T | p.R194I | Missense | 3/3 | - | 1 |
19-37368312-A-C | c.580A>C | p.R194= | Synonymous | 3/3 | - | 1 |
19-37368314-A-G | c.582A>G | p.R194= | Synonymous | 3/3 | - | 1 |
19-37368319-A-G | c.587A>G | p.H196R | Missense | 3/3 | - | 1 |
19-37368322-C-A | c.590C>A | p.T197K | Missense | 3/3 | - | 2 |
19-37368324-G-T | c.592G>T | p.G198C | Missense | 3/3 | - | 4 |
19-37368325-G-C | c.593G>C | p.G198A | Missense | 3/3 | - | 1 |
19-37368328-A-G | c.596A>G | p.E199G | Missense | 3/3 | - | 1 |
19-37368330-A-G | c.598A>G | p.K200E | Missense | 3/3 | - | 1 |
19-37368333-C-A | c.601C>A | p.P201T | Missense | 3/3 | - | 2 |
19-37368336-T-G | c.604T>G | p.Y202D | Missense | 3/3 | - | 1 |
19-37368337-A-G | c.605A>G | p.Y202C | Missense | 3/3 | - | 2 |
19-37368339-G-A | c.607G>A | p.E203K | Missense | 3/3 | - | 1 |
19-37368342-T-A | c.610T>A | p.C204S | Missense | 3/3 | - | 1 |
19-37368343-G-C | c.611G>C | p.C204S | Missense | 3/3 | - | 1 |
19-37368345-A-G | c.613A>G | p.I205V | Missense | 3/3 | - | 3 |
19-37368351-T-C | c.619T>C | p.C207R | Missense | 3/3 | - | 1 |
19-37368353-TG-T | c.623del | p.G208Vfs*183 | Frameshift | 3/3 | - | 1 |
19-37368355-G-A | c.623G>A | p.G208D | Missense | 3/3 | - | 1 |
19-37368360-G-T | c.628G>T | p.A210S | Missense | 3/3 | - | 1 |
19-37368373-G-A | c.641G>A | p.G214D | Missense | 3/3 | - | 5 |
19-37368376-C-T | c.644C>T | p.S215L | Missense | 3/3 | - | 1 |
19-37368378-A-C | c.646A>C | p.N216H | Missense | 3/3 | - | 1 |
19-37368381-C-T | c.649C>T | p.L217F | Missense | 3/3 | - | 3 |
19-37368393-C-T | c.661C>T | p.R221W | Missense | 3/3 | - | 10 |
19-37368394-G-C | c.662G>C | p.R221P | Missense | 3/3 | - | 1 |
19-37368396-C-T | c.664C>T | p.R222W | Missense | 3/3 | - | 2 |
19-37368397-G-A | c.665G>A | p.R222Q | Missense | 3/3 | - | 1 |
19-37368399-A-C | c.667A>C | p.I223L | Missense | 3/3 | - | 1 |
19-37368399-A-G | c.667A>G | p.I223V | Missense | 3/3 | - | 1 |
19-37368402-C-T | c.670C>T | p.H224Y | Missense | 3/3 | - | 7 |
19-37368406-CT-AG | c.674_675inv | p.T225K | Missense | 3/3 | - | 1 |
19-37368413-G-C | c.681G>C | p.E227D | Missense | 3/3 | - | 7 |
19-37368413-G-T | c.681G>T | p.E227D | Missense | 3/3 | - | 5 |
19-37368416-A-C | c.684A>C | p.K228N | Missense | 3/3 | - | 4 |
19-37368416-A-T | c.684A>T | p.K228N | Missense | 3/3 | - | 1 |
19-37368417-C-T | c.685C>T | p.P229S | Missense | 3/3 | - | 1 |
19-37368419-T-A | c.687T>A | p.P229= | Synonymous | 3/3 | - | 2 |
19-37368419-T-C | c.687T>C | p.P229= | Synonymous | 3/3 | - | 2 |
19-37368419-T-G | c.687T>G | p.P229= | Synonymous | 3/3 | - | 2 |
19-37368427-G-A | c.695G>A | p.C232Y | Missense | 3/3 | - | 1 |
19-37368432-G-C | c.700G>C | p.A234P | Missense | 3/3 | - | 1 |
19-37368433-C-A | c.701C>A | p.A234E | Missense | 3/3 | - | 2 |
19-37368433-C-G | c.701C>G | p.A234G | Missense | 3/3 | - | 1 |
19-37368435-T-A | c.703T>A | p.C235S | Missense | 3/3 | - | 2 |
19-37368436-G-C | c.704G>C | p.C235S | Missense | 3/3 | - | 3 |
19-37368438-G-A | c.706G>A | p.G236R | Missense | 3/3 | - | 1 |
19-37368445-C-T | c.713C>T | p.A238V | Missense | 3/3 | - | 2 |
19-37368451-G-T | c.719G>T | p.S240I | Missense | 3/3 | - | 2 |
19-37368454-G-T | c.722G>T | p.S241I | Missense | 3/3 | - | 1 |
19-37368455-T-A | c.723T>A | p.S241R | Missense | 3/3 | - | 1 |
19-37368457-G-C | c.725G>C | p.G242A | Missense | 3/3 | - | 1 |
19-37368458-T-G | c.726T>G | p.G242= | Synonymous | 3/3 | - | 1 |
19-37368459-T-A | c.727T>A | p.S243T | Missense | 3/3 | - | 1 |
19-37368460-C-A | c.728C>A | p.S243* | Nonsense | 3/3 | - | 2 |
19-37368460-C-T | c.728C>T | p.S243L | Missense | 3/3 | - | 1 |
19-37368471-C-T | c.739C>T | p.R247W | Missense | 3/3 | - | 4 |
19-37368472-G-A | c.740G>A | p.R247Q | Missense | 3/3 | - | 3 |
19-37368481-G-A | c.749G>A | p.R250K | Missense | 3/3 | - | 1 |
19-37368481-G-T | c.749G>T | p.R250I | Missense | 3/3 | - | 1 |
19-37368482-A-G | c.750A>G | p.R250= | Synonymous | 3/3 | - | 1 |
19-37368485-T-G | c.753T>G | p.I251M | Missense | 3/3 | - | 2 |
19-37368486-C-T | c.754C>T | p.H252Y | Missense | 3/3 | - | 2 |
19-37368487-A-G | c.755A>G | p.H252R | Missense | 3/3 | - | 1 |
19-37368491-C-A | c.759C>A | p.T253= | Synonymous | 3/3 | - | 1 |
19-37368491-C-G | c.759C>G | p.T253= | Synonymous | 3/3 | - | 1 |
19-37368491-C-T | c.759C>T | p.T253= | Synonymous | 3/3 | - | 1 |
19-37368492-G-T | c.760G>T | p.G254C | Missense | 3/3 | - | 3 |
19-37368495-G-A | c.763G>A | p.E255K | Missense | 3/3 | - | 1 |
19-37368495-G-C | c.763G>C | p.E255Q | Missense | 3/3 | - | 1 |
19-37368496-A-T | c.764A>T | p.E255V | Missense | 3/3 | - | 5 |
19-37368501-CC-TT | c.769_770delinsTT | p.P257L | Missense | 3/3 | - | 1 |
19-37368501-C-T | c.769C>T | p.P257S | Missense | 3/3 | - | 1 |
19-37368502-C-T | c.770C>T | p.P257L | Missense | 3/3 | - | 4 |
19-37368503-A-C | c.771A>C | p.P257= | Synonymous | 3/3 | - | 1 |
19-37368503-A-G | c.771A>G | p.P257= | Synonymous | 3/3 | - | 2 |
19-37368503-A-T | c.771A>T | p.P257= | Synonymous | 3/3 | - | 1 |
19-37368505-A-T | c.773A>T | p.Y258F | Missense | 3/3 | - | 1 |
19-37368507-A-G | c.775A>G | p.I259V | Missense | 3/3 | - | 1 |
19-37368509-A-C | c.777A>C | p.I259= | Synonymous | 3/3 | - | 1 |
19-37368509-A-G | c.777A>G | p.I259M | Missense | 3/3 | - | 2 |
19-37368509-A-T | c.777A>T | p.I259= | Synonymous | 3/3 | - | 1 |
19-37368516-G-A | c.784G>A | p.E262K | Missense | 3/3 | - | 1 |
19-37368517-A-G | c.785A>G | p.E262G | Missense | 3/3 | - | 2 |
19-37368520-G-A | c.788G>A | p.C263Y | Missense | 3/3 | - | 1 |
19-37368522-G-A | c.790G>A | p.G264S | Missense | 3/3 | - | 1 |
19-37368521-TG-T | c.791del | p.G264Vfs*127 | Frameshift | 3/3 | - | 1 |
19-37368528-G-A | c.796G>A | p.A266T | Missense | 3/3 | - | 1 |
19-37368534-A-G | c.802A>G | p.S268G | Missense | 3/3 | - | 1 |
19-37368535-G-C | c.803G>C | p.S268T | Missense | 3/3 | - | 11 |
19-37368541-G-A | c.809G>A | p.G270E | Missense | 3/3 | - | 1 |
19-37368553-C-T | c.821C>T | p.T274I | Missense | 3/3 | - | 1 |
19-37368556-G-A | c.824G>A | p.R275Q | Missense | 3/3 | - | 4 |
19-37368565-G-T | c.833G>T | p.R278I | Missense | 3/3 | - | 4 |
19-37368571-A-G | c.839A>G | p.H280R | Missense | 3/3 | - | 1 |
19-37368578-T-C | c.846T>C | p.G282= | Synonymous | 3/3 | - | 1 |
19-37368579-G-A | c.847G>A | p.E283K | Missense | 3/3 | - | 1 |
19-37368585-CC-TT | c.853_854delinsTT | p.P285F | Missense | 3/3 | - | 3 |
19-37368585-C-T | c.853C>T | p.P285S | Missense | 3/3 | - | 1 |
19-37368586-C-T | c.854C>T | p.P285L | Missense | 3/3 | - | 1 |
19-37368587-T-A | c.855T>A | p.P285= | Synonymous | 3/3 | - | 1 |
19-37368587-T-C | c.855T>C | p.P285= | Synonymous | 3/3 | - | 1 |
19-37368587-T-G | c.855T>G | p.P285= | Synonymous | 3/3 | - | 1 |
19-37368588-T-C | c.856T>C | p.Y286H | Missense | 3/3 | - | 1 |
19-37368592-T-A | c.860T>A | p.V287E | Missense | 3/3 | - | 4 |
19-37368592-T-C | c.860T>C | p.V287A | Missense | 3/3 | - | 3 |
19-37368592-T-G | c.860T>G | p.V287G | Missense | 3/3 | - | 1 |
19-37368601-A-G | c.869A>G | p.E290G | Missense | 3/3 | - | 1 |
19-37368612-G-T | c.880G>T | p.A294S | Missense | 3/3 | - | 1 |
19-37368616-T-G | c.884T>G | p.F295C | Missense | 3/3 | - | 2 |
19-37368623-TG-T | c.893del | p.G298Afs*93 | Frameshift | 3/3 | - | 1 |
19-37368625-G-T | c.893G>T | p.G298V | Missense | 3/3 | - | 1 |
19-37368628-C-T | c.896C>T | p.S299L | Missense | 3/3 | - | 1 |
19-37368633-C-A | c.901C>A | p.L301I | Missense | 3/3 | - | 2 |
19-37368634-T-C | c.902T>C | p.L301P | Missense | 3/3 | - | 1 |
19-37368636-A-G | c.904A>G | p.T302A | Missense | 3/3 | - | 3 |
19-37368639-C-A | c.907C>A | p.Q303K | Missense | 3/3 | - | 3 |
19-37368639-C-T | c.907C>T | p.Q303* | Nonsense | 3/3 | - | 1 |
19-37368641-G-A | c.909G>A | p.Q303= | Synonymous | 3/3 | - | 1 |
19-37368645-C-A | c.913C>A | p.Q305K | Missense | 3/3 | - | 1 |
19-37368648-A-G | c.916A>G | p.R306G | Missense | 3/3 | - | 4 |
19-37368649-G-T | c.917G>T | p.R306I | Missense | 3/3 | - | 3 |
19-37368654-C-A | c.922C>A | p.H308N | Missense | 3/3 | - | 1 |
19-37368654-C-T | c.922C>T | p.H308Y | Missense | 3/3 | - | 1 |
19-37368656-C-T | c.924C>T | p.H308= | Synonymous | 3/3 | - | 1 |
19-37368661-G-T | c.929G>T | p.G310V | Missense | 3/3 | - | 1 |
19-37368662-T-A | c.930T>A | p.G310= | Synonymous | 3/3 | - | 2 |
19-37368662-T-C | c.930T>C | p.G310= | Synonymous | 3/3 | - | 3 |
19-37368662-T-G | c.930T>G | p.G310= | Synonymous | 3/3 | - | 2 |
19-37368668-A-G | c.936A>G | p.K312= | Synonymous | 3/3 | - | 2 |
19-37368673-A-G | c.941A>G | p.Y314C | Missense | 3/3 | - | 2 |
19-37368673-A-AT | c.942dup | p.E315* | Nonsense | 3/3 | - | 1 |
19-37368675-G-A | c.943G>A | p.E315K | Missense | 3/3 | - | 1 |
19-37368684-G-A | c.952G>A | p.E318K | Missense | 3/3 | - | 1 |
19-37368687-T-A | c.955T>A | p.C319S | Missense | 3/3 | - | 4 |
19-37368691-A-T | c.959A>T | p.E320V | Missense | 3/3 | - | 1 |
19-37368692-G-C | c.960G>C | p.E320D | Missense | 3/3 | - | 2 |
19-37368692-G-T | c.960G>T | p.E320D | Missense | 3/3 | - | 1 |
19-37368693-A-G | c.961A>G | p.K321E | Missense | 3/3 | - | 1 |
19-37368694-A-G | c.962A>G | p.K321R | Missense | 3/3 | - | 4 |
19-37368696-G-A | c.964G>A | p.A322T | Missense | 3/3 | - | 1 |
19-37368697-C-T | c.965C>T | p.A322V | Missense | 3/3 | - | 1 |
19-37368698-C-A | c.966C>A | p.A322= | Synonymous | 3/3 | - | 1 |
19-37368698-C-G | c.966C>G | p.A322= | Synonymous | 3/3 | - | 1 |
19-37368698-C-T | c.966C>T | p.A322= | Synonymous | 3/3 | - | 3 |
19-37368703-G-A | c.971G>A | p.R324K | Missense | 3/3 | - | 1 |
19-37368703-G-T | c.971G>T | p.R324I | Missense | 3/3 | - | 2 |
19-37368704-A-C | c.972A>C | p.R324S | Missense | 3/3 | - | 1 |
19-37368705-A-C | c.973A>C | p.S325R | Missense | 3/3 | - | 1 |
19-37368707-T-A | c.975T>A | p.S325R | Missense | 3/3 | - | 1 |
19-37368707-T-G | c.975T>G | p.S325R | Missense | 3/3 | - | 1 |
19-37368708-G-A | c.976G>A | p.G326S | Missense | 3/3 | - | 1 |
19-37368713-AAAACTT-A | c.983_988del | p.K328_L329del | InFrameDeletion | 3/3 | - | 1 |
19-37368718-T-G | c.986T>G | p.L329R | Missense | 3/3 | - | 1 |
19-37368723-C-A | c.991C>A | p.Q331K | Missense | 3/3 | - | 2 |
19-37368732-A-C | c.1000A>C | p.R334= | Synonymous | 3/3 | - | 3 |
19-37368733-G-T | c.1001G>T | p.R334I | Missense | 3/3 | - | 3 |
19-37368734-A-G | c.1002A>G | p.R334= | Synonymous | 3/3 | - | 1 |
19-37368737-G-A | c.1005G>A | p.M335I | Missense | 3/3 | - | 1 |
19-37368737-G-C | c.1005G>C | p.M335I | Missense | 3/3 | - | 1 |
19-37368737-G-T | c.1005G>T | p.M335I | Missense | 3/3 | - | 2 |
19-37368742-C-G | c.1010C>G | p.T337S | Missense | 3/3 | - | 1 |
19-37368751-A-G | c.1019A>G | p.K340R | Missense | 3/3 | - | 3 |
19-37368754-C-T | c.1022C>T | p.P341L | Missense | 3/3 | - | 1 |
19-37368764-T-G | c.1032T>G | p.C344W | Missense | 3/3 | - | 1 |
19-37368767-G-C | c.1035G>C | p.K345N | Missense | 3/3 | - | 2 |
19-37368767-G-T | c.1035G>T | p.K345N | Missense | 3/3 | - | 2 |
19-37368768-G-A | c.1036G>A | p.E346K | Missense | 3/3 | - | 1 |
19-37368779-G-A | c.1047G>A | p.K349= | Synonymous | 3/3 | - | 2 |
19-37368781-C-T | c.1049C>T | p.T350I | Missense | 3/3 | - | 1 |
19-37368786-A-C | c.1054A>C | p.S352R | Missense | 3/3 | - | 5 |
19-37368787-G-C | c.1055G>C | p.S352T | Missense | 3/3 | - | 1 |
19-37368788-T-A | c.1056T>A | p.S352R | Missense | 3/3 | - | 2 |
19-37368788-T-G | c.1056T>G | p.S352R | Missense | 3/3 | - | 2 |
19-37368790-G-C | c.1058G>C | p.S353T | Missense | 3/3 | - | 1 |
19-37368791-GT-G | c.1059del | p.S353Rfs*38 | Frameshift | 3/3 | - | 1 |
19-37368796-CA-GT | c.1064_1065delinsGT | p.S355C | Missense | 3/3 | - | 1 |
19-37368803-T-C | c.1071T>C | p.L357= | Synonymous | 3/3 | - | 1 |
19-37368806-T-C | c.1074T>C | p.T358= | Synonymous | 3/3 | - | 1 |
19-37368808-A-G | c.1076A>G | p.Q359R | Missense | 3/3 | - | 1 |
19-37368813-C-T | c.1081C>T | p.H361Y | Missense | 3/3 | - | 1 |
19-37368815-C-A | c.1083C>A | p.H361Q | Missense | 3/3 | - | 2 |
19-37368815-C-G | c.1083C>G | p.H361Q | Missense | 3/3 | - | 2 |
19-37368817-G-T | c.1085G>T | p.R362I | Missense | 3/3 | - | 2 |
19-37368819-A-C | c.1087A>C | p.I363L | Missense | 3/3 | - | 2 |
19-37368821-T-G | c.1089T>G | p.I363M | Missense | 3/3 | - | 1 |
19-37368822-C-T | c.1090C>T | p.H364Y | Missense | 3/3 | - | 1 |
19-37368825-A-G | c.1093A>G | p.T365A | Missense | 3/3 | - | 1 |
19-37368826-C-T | c.1094C>T | p.T365I | Missense | 3/3 | - | 1 |
19-37368831-G-T | c.1099G>T | p.E367* | Nonsense | 3/3 | - | 1 |
19-37368837-C-T | c.1105C>T | p.P369S | Missense | 3/3 | - | 1 |
19-37368841-A-G | c.1109A>G | p.Y370C | Missense | 3/3 | - | 1 |
19-37368843-G-A | c.1111G>A | p.E371K | Missense | 3/3 | - | 1 |
19-37368854-A-C | c.1122A>C | p.E374D | Missense | 3/3 | - | 1 |
19-37368854-A-T | c.1122A>T | p.E374D | Missense | 3/3 | - | 1 |
19-37368856-G-T | c.1124G>T | p.C375F | Missense | 3/3 | - | 1 |
19-37368858-G-T | c.1126G>T | p.G376W | Missense | 3/3 | - | 2 |
19-37368864-G-T | c.1132G>T | p.A378S | Missense | 3/3 | - | 3 |
19-37368866-C-A | c.1134C>A | p.A378= | Synonymous | 3/3 | - | 1 |
19-37368866-C-G | c.1134C>G | p.A378= | Synonymous | 3/3 | - | 1 |
19-37368866-C-T | c.1134C>T | p.A378= | Synonymous | 3/3 | - | 1 |
19-37368870-G-A | c.1138G>A | p.G380S | Missense | 3/3 | - | 2 |
19-37368870-G-T | c.1138G>T | p.G380C | Missense | 3/3 | - | 1 |
19-37368870-TGGTAGTGGCTCAAAACTTATCCAACACCAGCTAATCCATACTGGTGAAAGACCCTATGA-T | c.1138_1196del | p.G380Mfs*2 | InFrameDeletion | 3/3 | - | 1 |
19-37368872-T-A | c.1140T>A | p.G380= | Synonymous | 3/3 | - | 1 |
19-37368872-T-C | c.1140T>C | p.G380= | Synonymous | 3/3 | - | 1 |
19-37368872-T-G | c.1140T>G | p.G380= | Synonymous | 3/3 | - | 1 |
19-37368873-A-G | c.1141A>G | p.S381G | Missense | 3/3 | - | 1 |
19-37368873-AG-TT | c.1141_1142delinsTT | p.S381F | Missense | 3/3 | - | 1 |
19-37368874-G-T | c.1142G>T | p.S381I | Missense | 3/3 | - | 1 |
19-37368884-A-C | c.1152A>C | p.K384N | Missense | 3/3 | - | 1 |
19-37368884-A-T | c.1152A>T | p.K384N | Missense | 3/3 | - | 1 |
19-37368886-T-C | c.1154T>C | p.L385P | Missense | 3/3 | - | 1 |
19-37368886-T-G | c.1154T>G | p.L385R | Missense | 3/3 | - | 1 |
19-37368887-T-A | c.1155T>A | p.L385= | Synonymous | 3/3 | - | 4 |
19-37368887-T-C | c.1155T>C | p.L385= | Synonymous | 3/3 | - | 2 |
19-37368887-T-G | c.1155T>G | p.L385= | Synonymous | 3/3 | - | 2 |
19-37368889-T-C | c.1157T>C | p.I386T | Missense | 3/3 | - | 7 |
19-37368890-C-G | c.1158C>G | p.I386M | Missense | 3/3 | - | 1 |
19-37368890-C-T | c.1158C>T | p.I386= | Synonymous | 3/3 | - | 2 |
19-37368892-A-G | c.1160A>G | p.Q387R | Missense | 3/3 | - | 1 |
19-37368894-C-T | c.1162C>T | p.H388Y | Missense | 3/3 | - | 2 |
19-37368896-C-G | c.1164C>G | p.H388Q | Missense | 3/3 | - | 1 |
19-37368906-C-T | c.1174C>T | p.H392Y | Missense | 3/3 | - | 2 |
19-37368908-T-A | c.1176T>A | p.H392Q | Missense | 3/3 | - | 1 |
19-37368908-T-G | c.1176T>G | p.H392Q | Missense | 3/3 | - | 1 |
19-37368909-A-T | c.1177A>T | p.T393S | Missense | 3/3 | - | 1 |
19-37368910-C-G | c.1178C>G | p.T393S | Missense | 3/3 | - | 1 |
19-37368919-G-T | c.1187G>T | p.R396I | Missense | 3/3 | - | 4 |
19-37368922-C-T | c.1190C>T | p.P397L | Missense | 3/3 | - | 3 |
19-37368923-C-T | c.1191C>T | p.P397= | Synonymous | 3/3 | - | 1 |
19-37368926-T-C | c.1194T>C | p.Y398= | Synonymous | 3/3 | - | 1 |
19-37368927-G-A | c.1195G>A | p.E399K | Missense | 3/3 | - | 1 |
19-37368931-G-A | c.1199G>A | p.C400Y | Missense | 3/3 | - | 1 |
19-37368932-T-A | c.1200T>A | p.C400* | Nonsense | 3/3 | - | 1 |
19-37368934-A-G | c.1202A>G | p.K401R | Missense | 3/3 | - | 3 |
19-37368936-G-C | c.1204G>C | p.E402Q | Missense | 3/3 | - | 6 |
19-37368938-A-C | c.1206A>C | p.E402D | Missense | 3/3 | - | 1 |
19-37368938-A-T | c.1206A>T | p.E402D | Missense | 3/3 | - | 1 |
19-37368939-T-A | c.1207T>A | p.C403S | Missense | 3/3 | - | 1 |
19-37368940-G-C | c.1208G>C | p.C403S | Missense | 3/3 | - | 3 |
19-37368942-G-A | c.1210G>A | p.G404R | Missense | 3/3 | - | 1 |
19-37368942-G-C | c.1210G>C | p.G404R | Missense | 3/3 | - | 1 |
19-37368945-AAG-TGT | c.1213_1215delinsTGT | p.K405C | Missense | 3/3 | - | 1 |
19-37368947-G-T | c.1215G>T | p.K405N | Missense | 3/3 | - | 1 |
19-37368948-T-G | c.1216T>G | p.S406A | Missense | 3/3 | - | 2 |
19-37368949-C-T | c.1217C>T | p.S406F | Missense | 3/3 | - | 1 |
19-37368950-C-A | c.1218C>A | p.S406= | Synonymous | 3/3 | - | 4 |
19-37368950-C-G | c.1218C>G | p.S406= | Synonymous | 3/3 | - | 2 |
19-37368950-C-T | c.1218C>T | p.S406= | Synonymous | 3/3 | - | 2 |
19-37368975-C-T | c.1243C>T | p.R415W | Missense | 3/3 | - | 1 |
19-37368977-G-A | c.1245G>A | p.R415= | Synonymous | 3/3 | - | 1 |
19-37368979-A-T | c.1247A>T | p.H416L | Missense | 3/3 | - | 3 |
19-37368980-C-T | c.1248C>T | p.H416= | Synonymous | 3/3 | - | 2 |
19-37368985-G-T | c.1253G>T | p.R418I | Missense | 3/3 | - | 2 |
19-37368992-C-T | c.1260C>T | p.H420= | Synonymous | 3/3 | - | 1 |
19-37368999-G-A | c.1267G>A | p.E423K | Missense | 3/3 | - | 1 |
19-37369000-A-G | c.1268A>G | p.E423G | Missense | 3/3 | - | 4 |
19-37369004-A-C | c.1272A>C | p.K424N | Missense | 3/3 | - | 2 |
19-37369004-A-T | c.1272A>T | p.K424N | Missense | 3/3 | - | 1 |
19-37369006-C-A | c.1274C>A | p.P425H | Missense | 3/3 | - | 1 |
19-37369006-C-T | c.1274C>T | p.P425L | Missense | 3/3 | - | 1 |
19-37369018-A-G | c.1286A>G | p.K429R | Missense | 3/3 | - | 2 |
19-37369030-A-C | c.1298A>C | p.K433T | Missense | 3/3 | - | 1 |
19-37369031-G-C | c.1299G>C | p.K433N | Missense | 3/3 | - | 1 |
19-37369031-G-T | c.1299G>T | p.K433N | Missense | 3/3 | - | 1 |
19-37369042-G-T | c.1310G>T | p.S437I | Missense | 3/3 | - | 2 |
19-37369044-G-A | c.1312G>A | p.G438S | Missense | 3/3 | - | 1 |
19-37369046-C-A | c.1314C>A | p.G438= | Synonymous | 3/3 | - | 1 |
19-37369046-C-G | c.1314C>G | p.G438= | Synonymous | 3/3 | - | 1 |
19-37369046-C-T | c.1314C>T | p.G438= | Synonymous | 3/3 | - | 1 |
19-37369047-T-A | c.1315T>A | p.S439T | Missense | 3/3 | - | 1 |
19-37369048-C-T | c.1316C>T | p.S439L | Missense | 3/3 | - | 2 |
19-37369055-T-A | c.1323T>A | p.L441= | Synonymous | 3/3 | - | 1 |
19-37369055-T-C | c.1323T>C | p.L441= | Synonymous | 3/3 | - | 1 |
19-37369055-T-G | c.1323T>G | p.L441= | Synonymous | 3/3 | - | 1 |
19-37369057-C-A | c.1325C>A | p.T442N | Missense | 3/3 | - | 2 |
19-37369058-T-A | c.1326T>A | p.T442= | Synonymous | 3/3 | - | 1 |
19-37369058-T-C | c.1326T>C | p.T442= | Synonymous | 3/3 | - | 1 |
19-37369058-T-G | c.1326T>G | p.T442= | Synonymous | 3/3 | - | 1 |
19-37369059-C-G | c.1327C>G | p.Q443E | Missense | 3/3 | - | 2 |
19-37369059-C-T | c.1327C>T | p.Q443* | Nonsense | 3/3 | - | 1 |
19-37369062-C-T | c.1330C>T | p.H444Y | Missense | 3/3 | - | 1 |
19-37369066-A-C | c.1334A>C | p.Q445P | Missense | 3/3 | - | 3 |
19-37369066-A-T | c.1334A>T | p.Q445L | Missense | 3/3 | - | 2 |
19-37369067-G-C | c.1335G>C | p.Q445H | Missense | 3/3 | - | 1 |
19-37369068-A-T | c.1336A>T | p.R446* | Nonsense | 3/3 | - | 1 |
19-37369069-G-A | c.1337G>A | p.R446K | Missense | 3/3 | - | 2 |
19-37369076-T-A | c.1344T>A | p.H448Q | Missense | 3/3 | - | 1 |
19-37369076-T-G | c.1344T>G | p.H448Q | Missense | 3/3 | - | 1 |
19-37369083-G-C | c.1351G>C | p.E451Q | Missense | 3/3 | - | 1 |
19-37369085-G-C | c.1353G>C | p.E451D | Missense | 3/3 | - | 1 |
19-37369088-A-C | c.1356A>C | p.K452N | Missense | 3/3 | - | 2 |
19-37369088-A-T | c.1356A>T | p.K452N | Missense | 3/3 | - | 1 |
19-37369090-T-G | c.1358T>G | p.L453R | Missense | 3/3 | - | 6 |
19-37369097-A-C | c.1365A>C | p.E455D | Missense | 3/3 | - | 1 |
19-37369097-A-T | c.1365A>T | p.E455D | Missense | 3/3 | - | 1 |
19-37369099-G-A | c.1367G>A | p.C456Y | Missense | 3/3 | - | 1 |
19-37369101-A-G | c.1369A>G | p.K457E | Missense | 3/3 | - | 1 |
19-37369101-A-T | c.1369A>T | p.K457* | Nonsense | 3/3 | - | 1 |
19-37369103-G-C | c.1371G>C | p.K457N | Missense | 3/3 | - | 1 |
19-37369103-G-T | c.1371G>T | p.K457N | Missense | 3/3 | - | 1 |
19-37369104-A-G | c.1372A>G | p.N458D | Missense | 3/3 | - | 1 |
19-37369108-G-T | c.1376G>T | p.C459F | Missense | 3/3 | - | 4 |
19-37369109-T-G | c.1377T>G | p.C459W | Missense | 3/3 | - | 1 |
19-37369112-G-A | c.1380G>A | p.G460= | Synonymous | 3/3 | - | 1 |
19-37369113-A-G | c.1381A>G | p.K461E | Missense | 3/3 | - | 2 |
19-37369115-G-A | c.1383G>A | p.K461= | Synonymous | 3/3 | - | 2 |
19-37369124-G-A | c.1392G>A | p.G464= | Synonymous | 3/3 | - | 1 |
19-37369125-A-G | c.1393A>G | p.R465G | Missense | 3/3 | - | 1 |
19-37369125-AGG-CAT | c.1393_1395delinsCAT | p.R465H | Missense | 3/3 | - | 1 |
19-37369126-G-A | c.1394G>A | p.R465K | Missense | 3/3 | - | 1 |
19-37369132-C-T | c.1400C>T | p.S467L | Missense | 3/3 | - | 2 |
19-37369155-A-G | c.1423A>G | p.S475G | Missense | 3/3 | - | 1 |
19-37369160-T-A | c.1428T>A | p.H476Q | Missense | 3/3 | - | 2 |
19-37369160-T-G | c.1428T>G | p.H476Q | Missense | 3/3 | - | 2 |
19-37369165-G-A | c.1433G>A | p.G478D | Missense | 3/3 | - | 1 |
19-37369166-T-A | c.1434T>A | p.G478= | Synonymous | 3/3 | - | 1 |
19-37369166-T-C | c.1434T>C | p.G478= | Synonymous | 3/3 | - | 1 |
19-37369166-T-G | c.1434T>G | p.G478= | Synonymous | 3/3 | - | 1 |
19-37369171-A-C | c.1439A>C | p.K480T | Missense | 3/3 | - | 1 |
19-37369172-A-G | c.1440A>G | p.K480= | Synonymous | 3/3 | - | 2 |
19-37369175-C-A | c.1443C>A | p.L481= | Synonymous | 3/3 | - | 1 |
19-37369175-C-G | c.1443C>G | p.L481= | Synonymous | 3/3 | - | 1 |
19-37369175-C-T | c.1443C>T | p.L481= | Synonymous | 3/3 | - | 1 |
19-37369177-G-A | c.1445G>A | p.C482Y | Missense | 3/3 | - | 1 |
19-37369178-C-A | c.1446C>A | p.C482* | Nonsense | 3/3 | - | 4 |
19-37369178-C-T | c.1446C>T | p.C482= | Synonymous | 3/3 | - | 3 |
19-37369179-G-A | c.1447G>A | p.E483K | Missense | 3/3 | - | 6 |
19-37369179-G-C | c.1447G>C | p.E483Q | Missense | 3/3 | - | 1 |
19-37369924-G-A | c.*725G>A | - | 3-UTRSNV | 3/3 | - | 2 |