WDR43

WDR43 WD repeat domain 43

Annotation transcript: NM_015131.3

545 unique variant annotations were identified in 288 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
2-29117566-T-A c.2T>A p.M1? Missense 1/18 - 1
2-29117582-C-T c.18C>T p.G6= Synonymous 1/18 - 1
2-29117596-C-A c.32C>A p.P11H Missense 1/18 - 1
2-29117601-GCC-TGG c.37_39delinsTGG p.A13W Missense 1/18 - 1
2-29117603-C-A c.39C>A p.A13= Synonymous 1/18 - 1
2-29117603-C-G c.39C>G p.A13= Synonymous 1/18 - 1
2-29117603-C-T c.39C>T p.A13= Synonymous 1/18 - 1
2-29117604-C-A c.40C>A p.P14T Missense 1/18 - 1
2-29117607-GC-CG c.43_44delinsCG p.A15R Missense 1/18 - 1
2-29117607-GC-CT c.43_44delinsCT p.A15L Missense 1/18 - 1
2-29117607-GCT-TAA c.43_45delinsTAA p.A15* Nonsense 1/18 - 1
2-29117611-G-C c.47G>C p.G16A Missense 1/18 - 1
2-29117613-G-A c.49G>A p.V17I Missense 1/18 - 1
2-29117619-T-A c.55T>A p.C19S Missense 1/18 - 1
2-29117620-G-C c.56G>C p.C19S Missense 1/18 - 1
2-29117622-G-A c.58G>A p.A20T Missense 1/18 - 1
2-29117622-GC-CA c.58_59delinsCA p.A20H Missense 1/18 - 3
2-29117622-GCC-TGG c.58_60delinsTGG p.A20W Missense 1/18 - 1
2-29117623-C-A c.59C>A p.A20D Missense 1/18 - 2
2-29117630-C-T c.66C>T p.S22= Synonymous 1/18 - 1
2-29117634-C-T c.70C>T p.H24Y Missense 1/18 - 1
2-29117643-GCC-ATG c.79_81delinsATG p.A27M Missense 1/18 - 1
2-29117643-GC-CT c.79_80delinsCT p.A27L Missense 1/18 - 1
2-29117649-T-C c.85T>C p.F29L Missense 1/18 - 1
2-29117651-C-A c.87C>A p.F29L Missense 1/18 - 1
2-29117651-C-G c.87C>G p.F29L Missense 1/18 - 1
2-29117652-GCT-TAA c.88_90delinsTAA p.A30* Nonsense 1/18 - 1
2-29117654-T-A c.90T>A p.A30= Synonymous 1/18 - 2
2-29117654-T-C c.90T>C p.A30= Synonymous 1/18 - 2
2-29117654-T-G c.90T>G p.A30= Synonymous 1/18 - 2
2-29117658-GC-AT c.94_95delinsAT p.A32I Missense 1/18 - 1
2-29117659-C-G c.95C>G p.A32G Missense 1/18 - 1
2-29117659-C-T c.95C>T p.A32V Missense 1/18 - 1
2-29117660-C-A c.96C>A p.A32= Synonymous 1/18 - 2
2-29117660-C-G c.96C>G p.A32= Synonymous 1/18 - 2
2-29117660-C-T c.96C>T p.A32= Synonymous 1/18 - 2
2-29117664-A-G c.100A>G p.T34A Missense 1/18 - 1
2-29117667-G-C c.103G>C p.D35H Missense 1/18 - 1
2-29117679-C-T c.115C>T p.R39* Nonsense 1/18 - 1
2-29117680-G-A c.116G>A p.R39Q Missense 1/18 - 1
2-29117694-G-T c.130G>T p.A44S Missense 1/18 - 2
2-29117707-T-A c.143T>A p.L48Q Missense 1/18 - 1
2-29117707-T-C c.143T>C p.L48P Missense 1/18 - 1
2-29117709-C-T c.145C>T p.H49Y Missense 1/18 - 1
2-29117722-T-C c.158T>C p.V53A Missense 1/18 - 1
2-29117728-C-T c.164C>T p.S55F Missense 1/18 - 1
2-29117731-C-T c.167C>T p.A56V Missense 1/18 - 1
2-29117743-G-A c.179G>A p.G60D Missense 1/18 - 1
2-29117744-T-A c.180T>A p.G60= Synonymous 1/18 - 1
2-29117744-T-C c.180T>C p.G60= Synonymous 1/18 - 1
2-29117744-T-G c.180T>G p.G60= Synonymous 1/18 - 1
2-29117756-T-A c.192T>A p.C64* Nonsense 1/18 - 1
2-29117757-C-T c.193C>T p.L65= Synonymous 1/18 - 1
2-29117759-G-A c.195G>A p.L65= Synonymous 1/18 - 1
2-29117759-G-C c.195G>C p.L65= Synonymous 1/18 - 1
2-29117759-G-T c.195G>T p.L65= Synonymous 1/18 - 1
2-29117764-G-GCAGCCGCGCT c.200_201insCAGCCGCGCT p.W67Cfs*29 Frameshift 1/18 - 1
2-29117769-C-T c.205C>T p.P69S Missense 1/18 - 1
2-29117768-G-GC c.206dup p.A70Sfs*23 Frameshift 1/18 - 1
2-29117773-C-A c.209C>A p.A70E Missense 1/18 - 1
2-29117773-C-T c.209C>T p.A70V Missense 1/18 - 1
2-29117789-G-GGAAA c.225+1_225+2insAAAG - SpliceDonorInsertion - - 1
2-29117789-G-GGAAAGTCCCCAGAGGAAAAAAAAGGAAATCAGAAGCTGTAGGAATGA c.225+1_225+2insAAAGTCCCCAGAGGAAAAAAAAGGAAATCAGAAGCTGTAGGAATGAG - SpliceDonorInsertion - - 1
2-29117789-G-GGAAAGTCCCCAGAGGAAAAAAAGGAAATCAGAAGCT c.225+1_225+2insAAAGTCCCCAGAGGAAAAAAAGGAAATCAGAAGCTG - SpliceDonorInsertion - - 1
2-29117789-G-GGAAAGTCCCCAGAGGAAAAAAAGGAAATCAGAAGCTGTAGGAATGA c.225+1_225+2insAAAGTCCCCAGAGGAAAAAAAGGAAATCAGAAGCTGTAGGAATGAG - SpliceDonorInsertion - - 1
2-29117800-C-T c.225+11C>T - IntronicSNV - 1/17 1
2-29117921-C-T c.225+132C>T - IntronicSNV - 1/17 1
2-29118060-G-A c.225+271G>A - IntronicSNV - 1/17 1
2-29118258-T-G c.225+469T>G - IntronicSNV - 1/17 1
2-29119585-A-T c.225+1796A>T - IntronicSNV - 1/17 5
2-29119688-T-C c.225+1899T>C - IntronicSNV - 1/17 1
2-29119930-C-G c.225+2141C>G - IntronicSNV - 1/17 1
2-29119930-C-T c.225+2141C>T - IntronicSNV - 1/17 1
2-29120030-G-A c.225+2241G>A - IntronicSNV - 1/17 1
2-29120116-A-G c.225+2327A>G - IntronicSNV - 1/17 1
2-29120116-A-T c.225+2327A>T - IntronicSNV - 1/17 1
2-29120733-C-T c.225+2944C>T - IntronicSNV - 1/17 8
2-29121562-A-G c.226-3291A>G - IntronicSNV - 1/17 1
2-29122001-G-T c.226-2852G>T - IntronicSNV - 1/17 1
2-29124858-T-C c.231T>C p.S77= Synonymous 2/18 - 2
2-29124860-C-T c.233C>T p.P78L Missense 2/18 - 3
2-29124868-A-G c.241A>G p.K81E Missense 2/18 - 2
2-29124867-G-GA c.247dup p.R83Kfs*10 Frameshift 2/18 - 1
2-29124879-A-G c.252A>G p.K84= Synonymous 2/18 - 1
2-29124883-G-C c.256G>C p.E86Q Missense 2/18 - 1
2-29124888-T-A c.261T>A p.A87= Synonymous 2/18 - 1
2-29124888-T-C c.261T>C p.A87= Synonymous 2/18 - 2
2-29124888-T-G c.261T>G p.A87= Synonymous 2/18 - 1
2-29124889-G-A c.262G>A p.V88I Missense 2/18 - 1
2-29124891-A-C c.264A>C p.V88= Synonymous 2/18 - 1
2-29124891-A-G c.264A>G p.V88= Synonymous 2/18 - 1
2-29124891-A-T c.264A>T p.V88= Synonymous 2/18 - 1
2-29124908-C-T c.281C>T p.T94I Missense 2/18 - 1
2-29124916-T-C c.289T>C p.L97= Synonymous 2/18 - 1
2-29124918-G-A c.291G>A p.L97= Synonymous 2/18 - 1
2-29124926-G-A c.299G>A p.G100D Missense 2/18 - 1
2-29124928-A-G c.301A>G p.T101A Missense 2/18 - 1
2-29124960-A-G c.333A>G p.T111= Synonymous 2/18 - 1
2-29124961-G-A c.334G>A p.V112I Missense 2/18 - 1
2-29124961-G-C c.334G>C p.V112L Missense 2/18 - 1
2-29124973-T-G c.346T>G p.L116V Missense 2/18 - 1
2-29124976-C-T c.349C>T p.H117Y Missense 2/18 - 4
2-29124978-C-A c.351C>A p.H117Q Missense 2/18 - 1
2-29124978-C-G c.351C>G p.H117Q Missense 2/18 - 1
2-29124983-A-C c.356A>C p.K119T Missense 2/18 - 2
2-29124985-T-C c.358T>C p.L120= Synonymous 2/18 - 1
2-29124987-A-G c.360A>G p.L120= Synonymous 2/18 - 1
2-29125054-A-G c.363+64A>G - IntronicSNV - 2/17 1
2-29125054-A-T c.363+64A>T - IntronicSNV - 2/17 1
2-29125053-TA-T c.363+73del - IntronicDeletion - 2/17 2
2-29129316-T-A c.364-10T>A - IntronicSNV - 2/17 1
2-29129326-A-C c.364A>C p.S122R Missense 3/18 - 1
2-29129328-T-A c.366T>A p.S122R Missense 3/18 - 1
2-29129328-T-G c.366T>G p.S122R Missense 3/18 - 3
2-29129334-A-G c.372A>G p.G124= Synonymous 3/18 - 1
2-29129344-A-G c.382A>G p.R128G Missense 3/18 - 1
2-29129345-G-A c.383G>A p.R128K Missense 3/18 - 1
2-29129353-T-A c.391T>A p.C131S Missense 3/18 - 1
2-29129354-G-C c.392G>C p.C131S Missense 3/18 - 1
2-29129356-AT-GG c.394_395delinsGG p.I132G Missense 3/18 - 1
2-29129371-G-A c.409G>A p.D137N Missense 3/18 - 1
2-29129371-G-T c.409G>T p.D137Y Missense 3/18 - 1
2-29129373-C-A c.411C>A p.D137E Missense 3/18 - 1
2-29129373-C-G c.411C>G p.D137E Missense 3/18 - 1
2-29129382-T-G c.420T>G p.C140W Missense 3/18 - 1
2-29129394-T-C c.432T>C p.C144= Synonymous 3/18 - 1
2-29129398-G-T c.436G>T p.D146Y Missense 3/18 - 1
2-29129401-G-A c.439G>A p.D147N Missense 3/18 - 1
2-29129412-T-G c.450T>G p.I150M Missense 3/18 - 1
2-29129417-A-G c.455A>G p.E152G Missense 3/18 - 1
2-29129418-A-G c.456A>G p.E152= Synonymous 3/18 - 18
2-29129424-C-CAA c.462_463insAA p.V155Kfs*7 Frameshift 3/18 - 1
2-29129425-G-A c.463G>A p.V155I Missense 3/18 - 1
2-29129425-G-T c.463G>T p.V155L Missense 3/18 - 1
2-29129433-A-C c.471A>C p.T157= Synonymous 3/18 - 1
2-29129433-A-G c.471A>G p.T157= Synonymous 3/18 - 2
2-29129433-A-T c.471A>T p.T157= Synonymous 3/18 - 1
2-29129447-G-A c.485G>A p.C162Y Missense 3/18 - 1
2-29129682-T-G c.485+235T>G - IntronicSNV - 3/17 1
2-29133121-G-T c.486-2335G>T - IntronicSNV - 3/17 1
2-29133600-C-T c.486-1856C>T - IntronicSNV - 3/17 1
2-29134743-A-G c.486-713A>G - IntronicSNV - 3/17 1
2-29135466-GG-TA c.496_497delinsTA p.G166Y Missense 4/18 - 1
2-29135467-G-A c.497G>A p.G166D Missense 4/18 - 1
2-29135467-G-T c.497G>T p.G166V Missense 4/18 - 1
2-29135468-C-A c.498C>A p.G166= Synonymous 4/18 - 23
2-29135468-C-G c.498C>G p.G166= Synonymous 4/18 - 24
2-29135468-C-T c.498C>T p.G166= Synonymous 4/18 - 23
2-29135473-A-G c.503A>G p.N168S Missense 4/18 - 2
2-29135475-AG-CT c.505_506inv p.S169L Missense 4/18 - 1
2-29135488-C-T c.518C>T p.S173F Missense 4/18 - 2
2-29135492-A-G c.522A>G p.L174= Synonymous 4/18 - 1
2-29135494-G-A c.524G>A p.C175Y Missense 4/18 - 1
2-29135495-T-C c.525T>C p.C175= Synonymous 4/18 - 2
2-29135504-A-C c.534A>C p.P178= Synonymous 4/18 - 2
2-29135504-A-G c.534A>G p.P178= Synonymous 4/18 - 2
2-29135504-A-T c.534A>T p.P178= Synonymous 4/18 - 2
2-29135514-A-G c.544A>G p.M182V Missense 4/18 - 2
2-29135524-C-T c.554C>T p.S185L Missense 4/18 - 1
2-29135529-G-A c.559G>A p.G187S Missense 4/18 - 1
2-29135533-G-A c.563G>A p.R188Q Missense 4/18 - 9
2-29135533-G-C c.563G>C p.R188P Missense 4/18 - 1
2-29135535-A-G c.565A>G p.T189A Missense 4/18 - 1
2-29135551-T-G c.581T>G p.V194G Missense 4/18 - 2
2-29135558-G-A c.588G>A p.E196= Synonymous 4/18 - 1
2-29135559-A-G c.589A>G p.T197A Missense 4/18 - 1
2-29135560-C-T c.590C>T p.T197I Missense 4/18 - 1
2-29135567-A-AAGACGCTATGTATTGATTTTCTGTTGTGGAAGATGAG c.597_598insAGACGCTATGTATTGATTTTCTGTTGTGGAAGATGAG p.V200Rfs*12 Frameshift 4/18 - 1
2-29135576-G-GCATTTCACA c.606_606+1insCATTTCACA p.H203_T205dup SpliceDonorInsertion - - 1
2-29135582-C-T c.606+6C>T - IntronicSNV - 4/17 1
2-29135790-A-G c.606+214A>G - IntronicSNV - 4/17 1
2-29135887-C-T c.606+311C>T - IntronicSNV - 4/17 1
2-29136217-C-G c.606+641C>G - IntronicSNV - 4/17 1
2-29136272-T-C c.607-663T>C - IntronicSNV - 4/17 1
2-29136435-A-G c.607-500A>G - IntronicSNV - 4/17 1
2-29136489-G-C c.607-446G>C - IntronicSNV - 4/17 6
2-29136489-G-T c.607-446G>T - IntronicSNV - 4/17 6
2-29136561-C-T c.607-374C>T - IntronicSNV - 4/17 1
2-29136562-G-A c.607-373G>A - IntronicSNV - 4/17 2
2-29136623-T-A c.607-312T>A - IntronicSNV - 4/17 5
2-29136623-T-C c.607-312T>C - IntronicSNV - 4/17 5
2-29136653-T-C c.607-282T>C - IntronicSNV - 4/17 4
2-29136685-C-T c.607-250C>T - IntronicSNV - 4/17 4
2-29136774-A-G c.607-161A>G - IntronicSNV - 4/17 1
2-29136944-GGA-AGC c.616_618delinsAGC p.G206S Missense 5/18 - 1
2-29136944-GGA-TGT c.616_618delinsTGT p.G206C Missense 5/18 - 1
2-29136945-G-T c.617G>T p.G206V Missense 5/18 - 2
2-29136947-C-T c.619C>T p.H207Y Missense 5/18 - 1
2-29136954-C-T c.626C>T p.T209M Missense 5/18 - 3
2-29136955-G-A c.627G>A p.T209= Synonymous 5/18 - 3
2-29136955-G-C c.627G>C p.T209= Synonymous 5/18 - 2
2-29136955-G-T c.627G>T p.T209= Synonymous 5/18 - 2
2-29136957-C-A c.629C>A p.P210Q Missense 5/18 - 1
2-29136957-C-G c.629C>G p.P210R Missense 5/18 - 1
2-29136957-C-T c.629C>T p.P210L Missense 5/18 - 1
2-29136959-G-A c.631G>A p.V211I Missense 5/18 - 2
2-29136963-C-T c.635C>T p.S212L Missense 5/18 - 2
2-29136968-CTG-TTT c.640_642delinsTTT p.L214F Missense 5/18 - 1
2-29136971-A-G c.643A>G p.M215V Missense 5/18 - 1
2-29136976-C-T c.648C>T p.F216= Synonymous 5/18 - 1
2-29136993-C-T c.665C>T p.P222L Missense 5/18 - 2
2-29137000-G-T c.672G>T p.E224D Missense 5/18 - 1
2-29137010-T-C c.682T>C p.F228L Missense 5/18 - 1
2-29137012-T-A c.684T>A p.F228L Missense 5/18 - 1
2-29137012-T-G c.684T>G p.F228L Missense 5/18 - 1
2-29137013-G-T c.685G>T p.D229Y Missense 5/18 - 1
2-29137017-G-A c.689G>A p.G230E Missense 5/18 - 1
2-29137017-G-C c.689G>C p.G230A Missense 5/18 - 1
2-29137025-G-A c.697G>A p.G233S Missense 5/18 - 2
2-29137029-T-A c.701T>A p.L234H Missense 5/18 - 1
2-29137031-T-C c.703T>C p.Y235H Missense 5/18 - 2
2-29137034-T-C c.706T>C p.F236L Missense 5/18 - 2
2-29137036-C-A c.708C>A p.F236L Missense 5/18 - 2
2-29137036-C-G c.708C>G p.F236L Missense 5/18 - 2
2-29137043-G-A c.715G>A p.G239R Missense 5/18 - 1
2-29137043-G-C c.715G>C p.G239R Missense 5/18 - 1
2-29137055-G-C c.727G>C p.D243H Missense 5/18 - 2
2-29137057-C-T c.729C>T p.D243= Synonymous 5/18 - 3
2-29137059-G-A c.731G>A p.R244Q Missense 5/18 - 1
2-29137072-C-A c.744C>A p.V248= Synonymous 5/18 - 1
2-29137072-C-G c.744C>G p.V248= Synonymous 5/18 - 1
2-29137072-C-T c.744C>T p.V248= Synonymous 5/18 - 1
2-29137076-T-C c.746+2T>C - IntronicSNV - 5/17 1
2-29137076-T-G c.746+2T>G - IntronicSNV - 5/17 1
2-29137278-G-C c.746+204G>C - IntronicSNV - 5/17 2
2-29137309-C-T c.746+235C>T - IntronicSNV - 5/17 1
2-29137567-C-T c.746+493C>T - IntronicSNV - 5/17 1
2-29140627-T-C c.747-132T>C - IntronicSNV - 5/17 1
2-29140711-G-A c.747-48G>A - IntronicSNV - 5/17 7
2-29140761-A-G c.749A>G p.Q250R Missense 6/18 - 1
2-29140767-G-A c.755G>A p.R252Q Missense 6/18 - 1
2-29140770-C-T c.758C>T p.S253L Missense 6/18 - 3
2-29140776-A-G c.764A>G p.N255S Missense 6/18 - 1
2-29140783-A-C c.771A>C p.E257D Missense 6/18 - 3
2-29140783-A-T c.771A>T p.E257D Missense 6/18 - 2
2-29140790-G-A c.778G>A p.A260T Missense 6/18 - 1
2-29140790-G-T c.778G>T p.A260S Missense 6/18 - 1
2-29140814-G-A c.802G>A p.D268N Missense 6/18 - 1
2-29140847-G-C c.835G>C p.E279Q Missense 6/18 - 2
2-29140882-G-A c.849+21G>A - IntronicSNV - 6/17 1
2-29144234-G-A c.850-1551G>A - IntronicSNV - 6/17 1
2-29144234-G-T c.850-1551G>T - IntronicSNV - 6/17 1
2-29144611-C-T c.850-1174C>T - IntronicSNV - 6/17 1
2-29145680-T-TTC c.850-105_850-104insTC - IntronicInsertion - 6/17 2
2-29145681-C-T c.850-104C>T - IntronicSNV - 6/17 1
2-29145725-G-T c.850-60G>T - IntronicSNV - 6/17 6
2-29145785-CC-TT c.850_851delinsTT p.P284F Missense 7/18 - 1
2-29145785-C-T c.850C>T p.P284S Missense 7/18 - 1
2-29145786-C-T c.851C>T p.P284L Missense 7/18 - 1
2-29145792-A-G c.857A>G p.K286R Missense 7/18 - 1
2-29145792-A-T c.857A>T p.K286M Missense 7/18 - 1
2-29145797-G-A c.862G>A p.A288T Missense 7/18 - 5
2-29145797-G-T c.862G>T p.A288S Missense 7/18 - 1
2-29145798-C-A c.863C>A p.A288D Missense 7/18 - 1
2-29145807-G-T c.872G>T p.C291F Missense 7/18 - 1
2-29145813-A-G c.878A>G p.D293G Missense 7/18 - 1
2-29145816-G-C c.881G>C p.G294A Missense 7/18 - 1
2-29145817-T-A c.882T>A p.G294= Synonymous 7/18 - 1
2-29145817-T-C c.882T>C p.G294= Synonymous 7/18 - 1
2-29145817-T-G c.882T>G p.G294= Synonymous 7/18 - 1
2-29145821-G-A c.886G>A p.V296I Missense 7/18 - 1
2-29145839-A-G c.904A>G p.I302V Missense 7/18 - 1
2-29145841-A-C c.906A>C p.I302= Synonymous 7/18 - 1
2-29145841-A-T c.906A>T p.I302= Synonymous 7/18 - 1
2-29145842-TTA-ATG c.907_909delinsATG p.L303M Missense 7/18 - 1
2-29145848-G-A c.913G>A p.G305R Missense 7/18 - 1
2-29145848-G-C c.913G>C p.G305R Missense 7/18 - 1
2-29145855-T-C c.914+6T>C - IntronicSNV - 7/17 1
2-29146094-T-C c.914+245T>C - IntronicSNV - 7/17 1
2-29147851-C-T c.918C>T p.Y306= Synonymous 8/18 - 1
2-29147859-A-C c.926A>C p.K309T Missense 8/18 - 1
2-29147862-C-A c.929C>A p.P310H Missense 8/18 - 1
2-29147891-G-A c.958G>A p.A320T Missense 8/18 - 1
2-29147892-C-T c.959C>T p.A320V Missense 8/18 - 1
2-29147897-C-A c.964C>A p.P322T Missense 8/18 - 1
2-29147901-G-T c.968G>T p.G323V Missense 8/18 - 1
2-29147922-C-T c.989C>T p.P330L Missense 8/18 - 1
2-29147923-A-T c.990A>T p.P330= Synonymous 8/18 - 1
2-29147932-C-T c.999C>T p.I333= Synonymous 8/18 - 3
2-29147934-C-A c.1001C>A p.P334H Missense 8/18 - 1
2-29147934-C-G c.1001C>G p.P334R Missense 8/18 - 1
2-29147940-T-TA c.1008dup p.A337Sfs*24 Frameshift 8/18 - 1
2-29147960-G-A c.1027G>A p.D343N Missense 8/18 - 1
2-29147962-C-T c.1029C>T p.D343= Synonymous 8/18 - 1
2-29147966-A-G c.1033A>G p.M345V Missense 8/18 - 1
2-29147967-T-A c.1034T>A p.M345K Missense 8/18 - 1
2-29147991-G-A c.1058G>A p.S353N Missense 8/18 - 1
2-29147994-G-T c.1061G>T p.W354L Missense 8/18 - 2
2-29147997-T-C c.1064T>C p.F355S Missense 8/18 - 1
2-29147999-C-T c.1066C>T p.Q356* Nonsense 8/18 - 1
2-29148001-G-C c.1068G>C p.Q356H Missense 8/18 - 1
2-29148001-G-T c.1068G>T p.Q356H Missense 8/18 - 1
2-29148007-T-A c.1074T>A p.T358= Synonymous 8/18 - 1
2-29148007-T-C c.1074T>C p.T358= Synonymous 8/18 - 1
2-29148007-T-G c.1074T>G p.T358= Synonymous 8/18 - 1
2-29148008-A-G c.1075A>G p.I359V Missense 8/18 - 3
2-29148009-T-C c.1076T>C p.I359T Missense 8/18 - 1
2-29148015-G-A c.1082G>A p.R361Q Missense 8/18 - 1
2-29148315-C-G c.1086+296C>G - IntronicSNV - 8/17 1
2-29149050-A-C c.1087-284A>C - IntronicSNV - 8/17 2
2-29149051-C-T c.1087-283C>T - IntronicSNV - 8/17 1
2-29149343-TC-AA c.1096_1097delinsAA p.S366N Missense 9/18 - 1
2-29149344-C-T c.1097C>T p.S366F Missense 9/18 - 2
2-29149346-A-G c.1099A>G p.R367G Missense 9/18 - 1
2-29149347-G-T c.1100G>T p.R367I Missense 9/18 - 1
2-29149349-G-A c.1102G>A p.E368K Missense 9/18 - 2
2-29149355-C-T c.1108C>T p.H370Y Missense 9/18 - 2
2-29149361-T-C c.1114T>C p.C372R Missense 9/18 - 1
2-29149362-G-A c.1115G>A p.C372Y Missense 9/18 - 2
2-29149363-T-C c.1116T>C p.C372= Synonymous 9/18 - 1
2-29149379-T-C c.1132T>C p.S378P Missense 9/18 - 1
2-29149394-C-T c.1147C>T p.P383S Missense 9/18 - 1
2-29149396-C-A c.1149C>A p.P383= Synonymous 9/18 - 1
2-29149396-C-G c.1149C>G p.P383= Synonymous 9/18 - 1
2-29149396-C-T c.1149C>T p.P383= Synonymous 9/18 - 1
2-29149399-A-T c.1152A>T p.K384N Missense 9/18 - 1
2-29149418-A-G c.1171A>G p.K391E Missense 9/18 - 2
2-29149948-C-T c.1174-487C>T - IntronicSNV - 9/17 1
2-29149960-G-A c.1174-475G>A - IntronicSNV - 9/17 1
2-29150435-G-C c.1174G>C p.V392L Missense 10/18 - 1
2-29150435-G-T c.1174G>T p.V392L Missense 10/18 - 1
2-29150443-A-C c.1182A>C p.T394= Synonymous 10/18 - 1
2-29150443-A-G c.1182A>G p.T394= Synonymous 10/18 - 1
2-29150443-A-T c.1182A>T p.T394= Synonymous 10/18 - 1
2-29150445-CA-AT c.1184_1185delinsAT p.P395H Missense 10/18 - 1
2-29150452-G-A c.1191G>A p.M397I Missense 10/18 - 1
2-29150452-G-C c.1191G>C p.M397I Missense 10/18 - 1
2-29150452-G-T c.1191G>T p.M397I Missense 10/18 - 1
2-29150456-T-C c.1195T>C p.S399P Missense 10/18 - 1
2-29150457-C-G c.1196C>G p.S399C Missense 10/18 - 1
2-29150462-G-A c.1201G>A p.A401T Missense 10/18 - 1
2-29150465-A-G c.1204A>G p.K402E Missense 10/18 - 3
2-29150471-C-A c.1210C>A p.L404M Missense 10/18 - 2
2-29150471-C-T c.1210C>T p.L404= Synonymous 10/18 - 1
2-29150487-C-G c.1226C>G p.P409R Missense 10/18 - 1
2-29150496-A-G c.1235A>G p.H412R Missense 10/18 - 2
2-29150498-G-T c.1237G>T p.A413S Missense 10/18 - 1
2-29150501-G-C c.1240G>C p.A414P Missense 10/18 - 1
2-29150502-C-T c.1241C>T p.A414V Missense 10/18 - 1
2-29150504-A-G c.1243A>G p.I415V Missense 10/18 - 2
2-29150507-A-G c.1246A>G p.K416E Missense 10/18 - 1
2-29150511-C-T c.1250C>T p.P417L Missense 10/18 - 1
2-29150513-G-A c.1252G>A p.A418T Missense 10/18 - 1
2-29150518-T-A c.1257T>A p.P419= Synonymous 10/18 - 1
2-29150518-T-C c.1257T>C p.P419= Synonymous 10/18 - 1
2-29150518-T-G c.1257T>G p.P419= Synonymous 10/18 - 1
2-29150519-C-T c.1258C>T p.P420S Missense 10/18 - 2
2-29150520-C-G c.1259C>G p.P420R Missense 10/18 - 1
2-29150524-A-C c.1263A>C p.Q421H Missense 10/18 - 1
2-29150524-A-T c.1263A>T p.Q421H Missense 10/18 - 1
2-29150527-C-T c.1266C>T p.T422= Synonymous 10/18 - 2
2-29150540-AGC-TGA c.1279_1281delinsTGA p.S427* Nonsense 10/18 - 1
2-29150540-AG-TA c.1279_1280delinsTA p.S427Y Missense 10/18 - 1
2-29150540-AG-TT c.1279_1280delinsTT p.S427F Missense 10/18 - 1
2-29150547-G-A c.1286G>A p.R429K Missense 10/18 - 1
2-29150554-A-G c.1293A>G p.S431= Synonymous 10/18 - 1
2-29150556-G-T c.1295G>T p.G432V Missense 10/18 - 1
2-29150558-GGA-AGC c.1297_1299delinsAGC p.G433S Missense 10/18 - 1
2-29150561-A-C c.1300A>C p.N434H Missense 10/18 - 1
2-29150636-G-A c.1305+70G>A - IntronicSNV - 10/17 1
2-29151035-C-T c.1305+469C>T - IntronicSNV - 10/17 1
2-29151714-A-AT c.1306-724dup - IntronicInsertion - 10/17 1
2-29152376-A-T c.1306-69A>T - IntronicSNV - 10/17 1
2-29152384-T-A c.1306-61T>A - IntronicSNV - 10/17 1
2-29152384-T-G c.1306-61T>G - IntronicSNV - 10/17 1
2-29152454-G-C c.1315G>C p.E439Q Missense 11/18 - 4
2-29152456-A-G c.1317A>G p.E439= Synonymous 11/18 - 19
2-29152456-A-T c.1317A>T p.E439D Missense 11/18 - 2
2-29152460-C-T c.1321C>T p.R441C Missense 11/18 - 1
2-29152461-G-A c.1322G>A p.R441H Missense 11/18 - 3
2-29152468-A-T c.1329A>T p.G443= Synonymous 11/18 - 2
2-29152472-A-G c.1333A>G p.M445V Missense 11/18 - 1
2-29152487-ACACAAAAAAGGAAAGGAAGACCTCCAGACGAAT-A c.1348_1380del p.H450_N460del InFrameDeletion 11/18 - 1
2-29152503-A-G c.1364A>G p.E455G Missense 11/18 - 1
2-29152508-C-G c.1369C>G p.L457V Missense 11/18 - 1
2-29152513-G-C c.1374G>C p.Q458H Missense 11/18 - 1
2-29152513-G-T c.1374G>T p.Q458H Missense 11/18 - 1
2-29152514-A-G c.1375A>G p.T459A Missense 11/18 - 1
2-29152515-C-T c.1376C>T p.T459M Missense 11/18 - 8
2-29152516-G-A c.1377G>A p.T459= Synonymous 11/18 - 3
2-29152516-G-C c.1377G>C p.T459= Synonymous 11/18 - 2
2-29152516-G-T c.1377G>T p.T459= Synonymous 11/18 - 2
2-29152518-A-G c.1379A>G p.N460S Missense 11/18 - 1
2-29152529-G-T c.1390G>T p.V464F Missense 11/18 - 2
2-29152532-C-T c.1393C>T p.L465F Missense 11/18 - 1
2-29152541-C-G c.1402C>G p.Q468E Missense 11/18 - 1
2-29152545-G-C c.1406G>C p.G469A Missense 11/18 - 1
2-29152558-C-T c.1419C>T p.N473= Synonymous 11/18 - 2
2-29152559-G-A c.1420G>A p.D474N Missense 11/18 - 4
2-29152564-T-C c.1425T>C p.F475= Synonymous 11/18 - 1
2-29152565-G-A c.1426G>A p.E476K Missense 11/18 - 1
2-29152571-C-T c.1432C>T p.L478= Synonymous 11/18 - 1
2-29152574-A-G c.1435A>G p.N479D Missense 11/18 - 1
2-29152705-T-C c.1437+129T>C - IntronicSNV - 11/17 1
2-29152798-C-T c.1437+222C>T - IntronicSNV - 11/17 1
2-29158389-A-G c.1440A>G p.K480= Synonymous 12/18 - 1
2-29158393-C-T c.1444C>T p.L482F Missense 12/18 - 2
2-29158395-T-A c.1446T>A p.L482= Synonymous 12/18 - 1
2-29158395-T-C c.1446T>C p.L482= Synonymous 12/18 - 1
2-29158395-T-G c.1446T>G p.L482= Synonymous 12/18 - 1
2-29158396-C-G c.1447C>G p.Q483E Missense 12/18 - 2
2-29158398-A-G c.1449A>G p.Q483= Synonymous 12/18 - 1
2-29158399-A-G c.1450A>G p.T484A Missense 12/18 - 1
2-29158401-T-A c.1452T>A p.T484= Synonymous 12/18 - 1
2-29158414-C-T c.1465C>T p.L489F Missense 12/18 - 1
2-29158416-T-C c.1467T>C p.L489= Synonymous 12/18 - 1
2-29158417-A-C c.1468A>C p.I490L Missense 12/18 - 1
2-29158417-A-T c.1468A>T p.I490L Missense 12/18 - 1
2-29158419-A-G c.1470A>G p.I490M Missense 12/18 - 1
2-29158422-G-C c.1473G>C p.K491N Missense 12/18 - 1
2-29158422-G-T c.1473G>T p.K491N Missense 12/18 - 1
2-29158431-A-C c.1482A>C p.V494= Synonymous 12/18 - 1
2-29158441-C-T c.1492C>T p.P498S Missense 12/18 - 1
2-29158443-C-A c.1494C>A p.P498= Synonymous 12/18 - 1
2-29158443-C-G c.1494C>G p.P498= Synonymous 12/18 - 1
2-29158443-C-T c.1494C>T p.P498= Synonymous 12/18 - 1
2-29158456-A-G c.1507A>G p.I503V Missense 12/18 - 1
2-29158460-C-T c.1511C>T p.P504L Missense 12/18 - 4
2-29158468-C-CAAGAGCTTACA c.1524_1524+1insCTTACAAAGAG p.R512Sfs*15 SpliceDonorInsertion 12/18 - 1
2-29158476-A-T c.1524+3A>T - IntronicSNV - 12/17 1
2-29158609-TAGACA-T c.1524+138_1524+142del - IntronicDeletion - 12/17 1
2-29158611-GACAA-G c.1524+140_1524+143del - IntronicDeletion - 12/17 1
2-29158613-CAAAAAA-C c.1524+156_1524+161del - IntronicDeletion - 12/17 1
2-29158613-CAAAAA-C c.1524+157_1524+161del - IntronicDeletion - 12/17 1
2-29159796-G-C c.1533G>C p.K511N Missense 13/18 - 1
2-29159796-G-T c.1533G>T p.K511N Missense 13/18 - 1
2-29159798-G-GAATGTACAATTTATGTGAAGAGTGTTTGTTTTT c.1535_1536insAATGTACAATTTATGTGAAGAGTGTTTGTTTTT p.R512_L513insMYNLCEECLFL InFrameInsertion 13/18 - 1
2-29159807-G-A c.1544G>A p.G515E Missense 13/18 - 1
2-29159812-C-A c.1549C>A p.P517T Missense 13/18 - 1
2-29159814-T-C c.1551T>C p.P517= Synonymous 13/18 - 2
2-29159817-T-C c.1554T>C p.N518= Synonymous 13/18 - 1
2-29160421-T-A c.1557-376T>A - IntronicSNV - 13/17 1
2-29160799-C-T c.1559C>T p.A520V Missense 14/18 - 1
2-29160827-T-C c.1587T>C p.C529= Synonymous 14/18 - 1
2-29160855-T-C c.1615T>C p.S539P Missense 14/18 - 1
2-29160856-C-T c.1616C>T p.S539F Missense 14/18 - 1
2-29160859-CG-TC c.1619_1620delinsTC p.T540I Missense 14/18 - 1
2-29160859-C-T c.1619C>T p.T540M Missense 14/18 - 1
2-29160860-G-T c.1620G>T p.T540= Synonymous 14/18 - 1
2-29161010-G-A c.1620+150G>A - IntronicSNV - 14/17 3
2-29161010-G-C c.1620+150G>C - IntronicSNV - 14/17 2
2-29161827-G-A c.1620+967G>A - IntronicSNV - 14/17 1
2-29161833-C-G c.1620+973C>G - IntronicSNV - 14/17 1
2-29161841-G-A c.1620+981G>A - IntronicSNV - 14/17 1
2-29161995-G-A c.1620+1135G>A - IntronicSNV - 14/17 1
2-29162904-G-A c.1621-1423G>A - IntronicSNV - 14/17 1
2-29162904-G-C c.1621-1423G>C - IntronicSNV - 14/17 1
2-29162904-G-T c.1621-1423G>T - IntronicSNV - 14/17 1
2-29164022-G-T c.1621-305G>T - IntronicSNV - 14/17 1
2-29164333-G-C c.1627G>C p.D543H Missense 15/18 - 3
2-29164351-G-T c.1645G>T p.G549W Missense 15/18 - 2
2-29164359-C-A c.1653C>A p.L551= Synonymous 15/18 - 1
2-29164359-C-G c.1653C>G p.L551= Synonymous 15/18 - 1
2-29164359-C-T c.1653C>T p.L551= Synonymous 15/18 - 1
2-29164364-A-T c.1658A>T p.Q553L Missense 15/18 - 3
2-29164371-G-A c.1665G>A p.M555I Missense 15/18 - 1
2-29164371-G-C c.1665G>C p.M555I Missense 15/18 - 1
2-29164371-G-T c.1665G>T p.M555I Missense 15/18 - 1
2-29164387-A-C c.1681A>C p.T561P Missense 15/18 - 1
2-29164387-A-G c.1681A>G p.T561A Missense 15/18 - 2
2-29164391-T-C c.1685T>C p.F562S Missense 15/18 - 1
2-29164393-C-T c.1687C>T p.Q563* Nonsense 15/18 - 1
2-29164401-T-A c.1695T>A p.L565= Synonymous 15/18 - 1
2-29164401-T-C c.1695T>C p.L565= Synonymous 15/18 - 1
2-29164401-T-G c.1695T>G p.L565= Synonymous 15/18 - 1
2-29164408-C-T c.1702C>T p.L568F Missense 15/18 - 4
2-29164417-A-C c.1711A>C p.K571Q Missense 15/18 - 1
2-29165181-A-G c.1738A>G p.T580A Missense 16/18 - 1
2-29165184-G-A c.1741G>A p.A581T Missense 16/18 - 1
2-29165188-C-A c.1745C>A p.S582* Nonsense 16/18 - 1
2-29165188-C-G c.1745C>G p.S582* Nonsense 16/18 - 1
2-29165192-G-C c.1749G>C p.E583D Missense 16/18 - 1
2-29165192-G-T c.1749G>T p.E583D Missense 16/18 - 2
2-29165205-G-A c.1762G>A p.A588T Missense 16/18 - 1
2-29165213-C-A c.1770C>A p.S590= Synonymous 16/18 - 1
2-29165213-C-G c.1770C>G p.S590= Synonymous 16/18 - 1
2-29165213-C-T c.1770C>T p.S590= Synonymous 16/18 - 1
2-29165214-C-T c.1771C>T p.P591S Missense 16/18 - 2
2-29165226-G-A c.1783G>A p.A595T Missense 16/18 - 1
2-29165233-T-C c.1790T>C p.L597S Missense 16/18 - 1
2-29165242-A-G c.1799A>G p.E600G Missense 16/18 - 1
2-29165469-AT-A c.1804+232del - IntronicDeletion - 16/17 1
2-29165479-T-C c.1804+232T>C - IntronicSNV - 16/17 1
2-29165480-C-T c.1804+233C>T - IntronicSNV - 16/17 1
2-29165485-C-T c.1804+238C>T - IntronicSNV - 16/17 1
2-29167678-C-T c.1805-1638C>T - IntronicSNV - 16/17 1
2-29168848-A-G c.1805-468A>G - IntronicSNV - 16/17 1
2-29169194-A-G c.1805-122A>G - IntronicSNV - 16/17 4
2-29169330-G-A c.1819G>A p.E607K Missense 17/18 - 3
2-29169331-A-T c.1820A>T p.E607V Missense 17/18 - 1
2-29169337-A-G c.1826A>G p.D609G Missense 17/18 - 1
2-29169340-A-T c.1829A>T p.D610V Missense 17/18 - 2
2-29169351-G-A c.1840G>A p.D614N Missense 17/18 - 1
2-29169407-C-T c.1854+42C>T - IntronicSNV - 17/17 1
2-29169485-A-G c.1874A>G p.E625G Missense 18/18 - 1
2-29169490-G-A c.1879G>A p.E627K Missense 18/18 - 1
2-29169516-C-T c.1905C>T p.D635= Synonymous 18/18 - 1
2-29169523-G-A c.1912G>A p.E638K Missense 18/18 - 1
2-29169526-G-A c.1915G>A p.E639K Missense 18/18 - 1
2-29169531-T-A c.1920T>A p.D640E Missense 18/18 - 1
2-29169531-T-G c.1920T>G p.D640E Missense 18/18 - 1
2-29169540-C-A c.1929C>A p.A643= Synonymous 18/18 - 2
2-29169540-C-G c.1929C>G p.A643= Synonymous 18/18 - 2
2-29169540-C-T c.1929C>T p.A643= Synonymous 18/18 - 2
2-29169550-G-T c.1939G>T p.D647Y Missense 18/18 - 1
2-29169559-A-C c.1948A>C p.N650H Missense 18/18 - 1
2-29169559-A-T c.1948A>T p.N650Y Missense 18/18 - 1
2-29169564-C-T c.1953C>T p.G651= Synonymous 18/18 - 1
2-29169565-G-A c.1954G>A p.E652K Missense 18/18 - 4
2-29169564-CGAG-C c.1956_1958del p.E652del InFrameDeletion 18/18 - 1
2-29169570-C-T c.1959C>T p.D653= Synonymous 18/18 - 1
2-29169571-AGA-TGG c.1960_1962delinsTGG p.R654W Missense 18/18 - 1
2-29169571-A-C c.1960A>C p.R654= Synonymous 18/18 - 1
2-29169573-A-G c.1962A>G p.R654= Synonymous 18/18 - 1
2-29169578-C-A c.1967C>A p.T656K Missense 18/18 - 1
2-29169578-C-G c.1967C>G p.T656R Missense 18/18 - 1
2-29169578-C-T c.1967C>T p.T656I Missense 18/18 - 1
2-29169579-A-C c.1968A>C p.T656= Synonymous 18/18 - 1
2-29169579-A-G c.1968A>G p.T656= Synonymous 18/18 - 1
2-29169579-A-T c.1968A>T p.T656= Synonymous 18/18 - 1
2-29169587-A-G c.1976A>G p.E659G Missense 18/18 - 1
2-29169590-A-G c.1979A>G p.K660R Missense 18/18 - 1
2-29169592-G-T c.1981G>T p.E661* Nonsense 18/18 - 3
2-29169592-GAATT-G c.1984_1987del p.L662Mfs*6 Frameshift 18/18 - 1
2-29169598-A-C c.1987A>C p.N663H Missense 18/18 - 1
2-29169602-G-A c.1991G>A p.G664E Missense 18/18 - 1
2-29169604-G-A c.1993G>A p.D665N Missense 18/18 - 2
2-29169605-A-G c.1994A>G p.D665G Missense 18/18 - 2
2-29169607-T-C c.1996T>C p.S666P Missense 18/18 - 2
2-29169609-T-G c.1998T>G p.S666= Synonymous 18/18 - 1
2-29169612-T-A c.2001T>A p.D667E Missense 18/18 - 6
2-29169612-T-C c.2001T>C p.D667= Synonymous 18/18 - 20
2-29169624-A-ATTT c.2013_2014insTTT p.E671_N672insF InFrameInsertion 18/18 - 3
2-29169625-A-ACTTTTAGAAAT c.2014_2015insCTTTTAGAAAT p.N672Tfs*75 Frameshift 18/18 - 1
2-29169626-A-C c.2015A>C p.N672T Missense 18/18 - 1
2-29169627-T-C c.2016T>C p.N672= Synonymous 18/18 - 1
2-29169628-G-A c.2017G>A p.E673K Missense 18/18 - 2
2-29169628-G-T c.2017G>T p.E673* Nonsense 18/18 - 1
2-29169630-A-G c.2019A>G p.E673= Synonymous 18/18 - 1
2-29169637-G-A c.2026G>A p.E676K Missense 18/18 - 2
2-29169830-A-G c.*185A>G - 3-UTRSNV 18/18 - 1
2-29169917-A-G c.*272A>G - 3-UTRSNV 18/18 - 1
2-29170623-G-T c.*978G>T - 3-UTRSNV 18/18 - 2
2-29170676-G-C c.*1031G>C - 3-UTRSNV 18/18 - 2
2-29170676-G-T c.*1031G>T - 3-UTRSNV 18/18 - 2