UVRAG

UVRAG UV radiation resistance associated

Annotation transcript: NM_003369.4

889 unique variant annotations were identified in 387 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
11-75526461-C-A c.9C>A p.A3= Synonymous 1/15 - 1
11-75526461-C-G c.9C>G p.A3= Synonymous 1/15 - 1
11-75526461-C-T c.9C>T p.A3= Synonymous 1/15 - 1
11-75526471-G-T c.19G>T p.V7F Missense 1/15 - 1
11-75526478-G-A c.26G>A p.G9D Missense 1/15 - 1
11-75526481-C-A c.29C>A p.P10H Missense 1/15 - 13
11-75526481-CC-AA c.29_30delinsAA p.P10Q Missense 1/15 - 3
11-75526481-CC-AG c.29_30delinsAG p.P10Q Missense 1/15 - 2
11-75526482-C-A c.30C>A p.P10= Synonymous 1/15 - 6
11-75526482-C-G c.30C>G p.P10= Synonymous 1/15 - 7
11-75526482-C-T c.30C>T p.P10= Synonymous 1/15 - 6
11-75526483-G-A c.31G>A p.V11I Missense 1/15 - 1
11-75526486-C-A c.34C>A p.P12T Missense 1/15 - 1
11-75526486-C-T c.34C>T p.P12S Missense 1/15 - 1
11-75526487-C-A c.35C>A p.P12H Missense 1/15 - 1
11-75526492-C-G c.40C>G p.P14A Missense 1/15 - 1
11-75526498-C-A c.46C>A p.P16T Missense 1/15 - 1
11-75526507-G-A c.55G>A p.A19T Missense 1/15 - 1
11-75526507-G-C c.55G>C p.A19P Missense 1/15 - 1
11-75526507-GCC-TGG c.55_57delinsTGG p.A19W Missense 1/15 - 1
11-75526509-C-A c.57C>A p.A19= Synonymous 1/15 - 1
11-75526509-C-G c.57C>G p.A19= Synonymous 1/15 - 1
11-75526509-C-T c.57C>T p.A19= Synonymous 1/15 - 1
11-75526510-GCT-CAA c.58_60delinsCAA p.A20Q Missense 1/15 - 1
11-75526510-GC-TG c.58_59delinsTG p.A20C Missense 1/15 - 2
11-75526511-C-A c.59C>A p.A20D Missense 1/15 - 2
11-75526513-G-A c.61G>A p.A21T Missense 1/15 - 1
11-75526515-T-A c.63T>A p.A21= Synonymous 1/15 - 2
11-75526515-T-C c.63T>C p.A21= Synonymous 1/15 - 2
11-75526515-T-G c.63T>G p.A21= Synonymous 1/15 - 2
11-75526520-C-A c.68C>A p.P23H Missense 1/15 - 1
11-75526535-C-G c.83C>G p.A28G Missense 1/15 - 1
11-75526537-C-A c.85C>A p.R29= Synonymous 1/15 - 1
11-75526537-CG-AA c.85_86delinsAA p.R29K Missense 1/15 - 1
11-75526539-G-A c.87G>A p.R29= Synonymous 1/15 - 1
11-75526539-G-C c.87G>C p.R29= Synonymous 1/15 - 1
11-75526539-G-T c.87G>T p.R29= Synonymous 1/15 - 1
11-75526540-G-A c.88G>A p.A30T Missense 1/15 - 1
11-75526540-G-C c.88G>C p.A30P Missense 1/15 - 4
11-75526541-CC-AG c.89_90delinsAG p.A30E Missense 1/15 - 1
11-75526541-C-T c.89C>T p.A30V Missense 1/15 - 1
11-75526544-T-G c.92T>G p.L31R Missense 1/15 - 2
11-75526558-C-T c.106C>T p.P36S Missense 1/15 - 1
11-75526559-C-T c.107C>T p.P36L Missense 1/15 - 1
11-75528011-A-G c.117+1442A>G - IntronicSNV - 1/14 1
11-75529373-T-G c.117+2804T>G - IntronicSNV - 1/14 1
11-75529372-GT-G c.117+2813del - IntronicDeletion - 1/14 1
11-75530404-T-G c.117+3835T>G - IntronicSNV - 1/14 1
11-75535107-TA-T c.117+8548del - IntronicDeletion - 1/14 1
11-75539848-A-T c.117+13279A>T - IntronicSNV - 1/14 1
11-75540586-A-G c.117+14017A>G - IntronicSNV - 1/14 5
11-75544015-A-G c.117+17446A>G - IntronicSNV - 1/14 1
11-75544298-T-C c.117+17729T>C - IntronicSNV - 1/14 1
11-75546691-A-C c.118-16237A>C - IntronicSNV - 1/14 5
11-75546691-A-G c.118-16237A>G - IntronicSNV - 1/14 5
11-75550856-T-G c.118-12072T>G - IntronicSNV - 1/14 1
11-75550860-G-T c.118-12068G>T - IntronicSNV - 1/14 1
11-75559015-A-C c.118-3913A>C - IntronicSNV - 1/14 1
11-75559015-A-T c.118-3913A>T - IntronicSNV - 1/14 1
11-75562928-C-T c.118C>T p.R40W Missense 2/15 - 3
11-75562929-G-A c.119G>A p.R40Q Missense 2/15 - 1
11-75562929-GG-AT c.119_120delinsAT p.R40H Missense 2/15 - 1
11-75562932-G-A c.122G>A p.R41H Missense 2/15 - 2
11-75562937-C-T c.127C>T p.R43* Nonsense 2/15 - 5
11-75562938-G-A c.128G>A p.R43Q Missense 2/15 - 7
11-75562951-C-T c.141C>T p.N47= Synonymous 2/15 - 2
11-75562955-GC-CT c.145_146delinsCT p.A49L Missense 2/15 - 1
11-75562960-C-A c.150C>A p.A50= Synonymous 2/15 - 1
11-75562960-C-G c.150C>G p.A50= Synonymous 2/15 - 1
11-75562960-C-T c.150C>T p.A50= Synonymous 2/15 - 1
11-75562961-C-A c.151C>A p.R51= Synonymous 2/15 - 2
11-75562961-CG-GC c.151_152delinsGC p.R51A Missense 2/15 - 1
11-75562962-G-A c.152G>A p.R51Q Missense 2/15 - 1
11-75562964-A-G c.154A>G p.N52D Missense 2/15 - 1
11-75562965-A-G c.155A>G p.N52S Missense 2/15 - 3
11-75562967-A-G c.157A>G p.I53V Missense 2/15 - 3
11-75562968-T-C c.158T>C p.I53T Missense 2/15 - 2
11-75562970-G-A c.160G>A p.V54I Missense 2/15 - 1
11-75562973-AA-GC c.163_164delinsGC p.N55A Missense 2/15 - 1
11-75562977-G-T c.167G>T p.R56I Missense 2/15 - 1
11-75562982-G-C c.172G>C p.G58R Missense 2/15 - 1
11-75562988-C-T c.178C>T p.Q60* Nonsense 2/15 - 3
11-75562989-A-T c.179A>T p.Q60L Missense 2/15 - 1
11-75562992-T-C c.182T>C p.L61P Missense 2/15 - 1
11-75562995-T-G c.185T>G p.L62R Missense 2/15 - 1
11-75562998-A-C c.188A>C p.D63A Missense 2/15 - 1
11-75563004-A-G c.194A>G p.Y65C Missense 2/15 - 1
11-75563004-A-T c.194A>T p.Y65F Missense 2/15 - 1
11-75563010-C-A c.200C>A p.T67K Missense 2/15 - 3
11-75563018-T-C c.208T>C p.L70= Synonymous 2/15 - 1
11-75563018-T-G c.208T>G p.L70V Missense 2/15 - 1
11-75563020-G-A c.210G>A p.L70= Synonymous 2/15 - 1
11-75563021-T-C c.211T>C p.C71R Missense 2/15 - 1
11-75563023-T-C c.213T>C p.C71= Synonymous 2/15 - 1
11-75563025-G-A c.215G>A p.S72N Missense 2/15 - 1
11-75563029-T-A c.219T>A p.T73= Synonymous 2/15 - 1
11-75563029-T-C c.219T>C p.T73= Synonymous 2/15 - 1
11-75563029-T-G c.219T>G p.T73= Synonymous 2/15 - 1
11-75563035-G-C c.225G>C p.K75N Missense 2/15 - 2
11-75563035-G-T c.225G>T p.K75N Missense 2/15 - 1
11-75563036-A-T c.226A>T p.I76L Missense 2/15 - 2
11-75563038-A-C c.228A>C p.I76= Synonymous 2/15 - 1
11-75563038-A-T c.228A>T p.I76= Synonymous 2/15 - 1
11-75563042-AA-GC c.232_233delinsGC p.K78A Missense 2/15 - 1
11-75563045-G-A c.235G>A p.E79K Missense 2/15 - 1
11-75568532-T-C c.236-4259T>C - IntronicSNV - 2/14 1
11-75568543-T-A c.236-4248T>A - IntronicSNV - 2/14 1
11-75568543-T-C c.236-4248T>C - IntronicSNV - 2/14 1
11-75572799-AG-GC c.244_245delinsGC p.R82A Missense 3/15 - 1
11-75572800-G-A c.245G>A p.R82K Missense 3/15 - 2
11-75572802-A-G c.247A>G p.S83G Missense 3/15 - 1
11-75572808-G-A c.253G>A p.V85M Missense 3/15 - 3
11-75572814-AA-GC c.259_260delinsGC p.K87A Missense 3/15 - 1
11-75572816-G-T c.261G>T p.K87N Missense 3/15 - 1
11-75572894-T-C c.270+69T>C - IntronicSNV - 3/14 3
11-75573047-T-C c.270+222T>C - IntronicSNV - 3/14 1
11-75575777-T-C c.270+2952T>C - IntronicSNV - 3/14 1
11-75575832-A-G c.270+3007A>G - IntronicSNV - 3/14 1
11-75581710-A-T c.270+8885A>T - IntronicSNV - 3/14 1
11-75586032-C-T c.271-4891C>T - IntronicSNV - 3/14 1
11-75590925-T-C c.273T>C p.N91= Synonymous 4/15 - 2
11-75590926-C-T c.274C>T p.P92S Missense 4/15 - 6
11-75590927-C-A c.275C>A p.P92H Missense 4/15 - 1
11-75590931-G-A c.279G>A p.T93= Synonymous 4/15 - 2
11-75590935-C-G c.283C>G p.R95G Missense 4/15 - 1
11-75590935-C-T c.283C>T p.R95* Nonsense 4/15 - 2
11-75590941-C-T c.289C>T p.L97F Missense 4/15 - 1
11-75590944-G-A c.292G>A p.D98N Missense 4/15 - 6
11-75590949-T-C c.297T>C p.F99= Synonymous 4/15 - 1
11-75590951-G-A c.299G>A p.G100E Missense 4/15 - 1
11-75590962-G-C c.310G>C p.D104H Missense 4/15 - 1
11-75590964-C-T c.312C>T p.D104= Synonymous 4/15 - 1
11-75590965-C-T c.313C>T p.R105C Missense 4/15 - 2
11-75590966-G-A c.314G>A p.R105H Missense 4/15 - 7
11-75590966-G-T c.314G>T p.R105L Missense 4/15 - 1
11-75590974-ACA-GAC c.322_324delinsGAC p.T108D Missense 4/15 - 1
11-75590974-A-G c.322A>G p.T108A Missense 4/15 - 1
11-75590977-T-C c.325T>C p.S109P Missense 4/15 - 1
11-75590981-T-C c.329T>C p.V110A Missense 4/15 - 1
11-75590982-G-A c.330G>A p.V110= Synonymous 4/15 - 1
11-75590985-T-A c.333T>A p.S111= Synonymous 4/15 - 3
11-75590985-T-C c.333T>C p.S111= Synonymous 4/15 - 3
11-75590985-T-G c.333T>G p.S111= Synonymous 4/15 - 3
11-75590988-T-C c.336T>C p.C112= Synonymous 4/15 - 1
11-75590991-C-A c.339C>A p.F113L Missense 4/15 - 5
11-75590991-C-T c.339C>T p.F113= Synonymous 4/15 - 1
11-75590992-G-A c.340G>A p.V114M Missense 4/15 - 1
11-75591007-G-T c.355G>T p.G119C Missense 4/15 - 1
11-75591011-G-A c.359G>A p.G120E Missense 4/15 - 2
11-75591013-A-G c.361A>G p.K121E Missense 4/15 - 1
11-75591016-G-A c.364G>A p.E122K Missense 4/15 - 1
11-75591018-G-C c.366G>C p.E122D Missense 4/15 - 1
11-75591018-G-T c.366G>T p.E122D Missense 4/15 - 1
11-75591023-T-G c.371T>G p.I124S Missense 4/15 - 1
11-75591026-A-G c.374A>G p.Y125C Missense 4/15 - 1
11-75591031-C-A c.379C>A p.L127M Missense 4/15 - 1
11-75591034-T-A c.382T>A p.L128M Missense 4/15 - 1
11-75591040-G-T c.388G>T p.E130* Nonsense 4/15 - 1
11-75591044-G-A c.392G>A p.W131* Nonsense 4/15 - 3
11-75591045-G-A c.393G>A p.W131* Nonsense 4/15 - 2
11-75591045-G-T c.393G>T p.W131C Missense 4/15 - 1
11-75591049-G-A c.397G>A p.V133I Missense 4/15 - 1
11-75591053-G-C c.401G>C p.C134S Missense 4/15 - 1
11-75591054-T-G c.402T>G p.C134W Missense 4/15 - 1
11-75591056-T-G c.404T>G p.L135W Missense 4/15 - 1
11-75591076-G-A c.424G>A p.G142S Missense 4/15 - 1
11-75591077-G-A c.425G>A p.G142D Missense 4/15 - 1
11-75591079-C-A c.427C>A p.Q143K Missense 4/15 - 1
11-75591080-A-T c.428A>T p.Q143L Missense 4/15 - 1
11-75591082-C-T c.430C>T p.Q144* Nonsense 4/15 - 4
11-75591162-T-A c.432+78T>A - IntronicSNV - 4/14 1
11-75591250-A-G c.432+166A>G - IntronicSNV - 4/14 1
11-75591251-T-C c.432+167T>C - IntronicSNV - 4/14 1
11-75592428-G-A c.432+1344G>A - IntronicSNV - 4/14 1
11-75594077-C-A c.432+2993C>A - IntronicSNV - 4/14 1
11-75594432-G-A c.432+3348G>A - IntronicSNV - 4/14 1
11-75597814-G-A c.433-2059G>A - IntronicSNV - 4/14 1
11-75599874-T-C c.434T>C p.I145T Missense 5/15 - 1
11-75599883-G-A c.443G>A p.R148Q Missense 5/15 - 7
11-75599888-C-A c.448C>A p.Q150K Missense 5/15 - 1
11-75599898-T-C c.458T>C p.I153T Missense 5/15 - 2
11-75599901-T-C c.461T>C p.I154T Missense 5/15 - 1
11-75599902-T-A c.462T>A p.I154= Synonymous 5/15 - 1
11-75599902-T-C c.462T>C p.I154= Synonymous 5/15 - 1
11-75599903-TTT-AAG c.463_465delinsAAG p.F155K Missense 5/15 - 1
11-75599906-G-A c.466G>A p.G156R Missense 5/15 - 2
11-75599906-G-C c.466G>C p.G156R Missense 5/15 - 2
11-75599907-G-T c.467G>T p.G156V Missense 5/15 - 2
11-75599915-G-A c.475G>A p.D159N Missense 5/15 - 4
11-75599918-G-A c.478G>A p.G160R Missense 5/15 - 1
11-75599919-G-A c.479G>A p.G160E Missense 5/15 - 2
11-75599922-A-G c.482A>G p.Y161C Missense 5/15 - 1
11-75599923-C-T c.483C>T p.Y161= Synonymous 5/15 - 2
11-75599924-T-C c.484T>C p.Y162H Missense 5/15 - 2
11-75599940-A-G c.500A>G p.E167G Missense 5/15 - 2
11-75599946-A-C c.506A>C p.K169T Missense 5/15 - 1
11-75599948-G-T c.507+1G>T - IntronicSNV - 5/14 1
11-75599953-A-G c.507+6A>G - IntronicSNV - 5/14 1
11-75603403-C-A c.507+3456C>A - IntronicSNV - 5/14 1
11-75607379-C-T c.507+7432C>T - IntronicSNV - 5/14 1
11-75610065-C-T c.507+10118C>T - IntronicSNV - 5/14 1
11-75621540-A-C c.508-1458A>C - IntronicSNV - 5/14 1
11-75621540-A-T c.508-1458A>T - IntronicSNV - 5/14 1
11-75622983-G-A c.508-15G>A - IntronicSNV - 5/14 1
11-75622998-G-T c.508G>T p.G170C Missense 6/15 - 2
11-75623005-CA-TT c.515_516delinsTT p.S172F Missense 6/15 - 1
11-75623013-C-G c.523C>G p.Q175E Missense 6/15 - 1
11-75623017-A-G c.527A>G p.K176R Missense 6/15 - 1
11-75623022-ATTC-A c.537_539del p.L180del InFrameDeletion 6/15 - 1
11-75623031-C-T c.541C>T p.Q181* Nonsense 6/15 - 1
11-75623044-A-G c.554A>G p.N185S Missense 6/15 - 1
11-75623048-T-C c.558T>C p.C186= Synonymous 6/15 - 1
11-75623052-C-T c.562C>T p.R188C Missense 6/15 - 1
11-75623053-G-C c.563G>C p.R188P Missense 6/15 - 2
11-75623059-C-T c.569C>T p.S190F Missense 6/15 - 1
11-75623063-C-T c.573C>T p.Y191= Synonymous 6/15 - 2
11-75623064-G-A c.574G>A p.D192N Missense 6/15 - 2
11-75623069-C-A c.579C>A p.V193= Synonymous 6/15 - 1
11-75623069-C-G c.579C>G p.V193= Synonymous 6/15 - 1
11-75623069-C-T c.579C>T p.V193= Synonymous 6/15 - 1
11-75623073-TC-CT c.583_584delinsCT p.S195L Missense 6/15 - 1
11-75623074-C-T c.584C>T p.S195F Missense 6/15 - 4
11-75623076-T-G c.586T>G p.L196V Missense 6/15 - 2
11-75623076-TT-GC c.586_587delinsGC p.L196A Missense 6/15 - 1
11-75623076-TTG-GAC c.586_588delinsGAC p.L196D Missense 6/15 - 1
11-75623080-T-C c.590T>C p.L197P Missense 6/15 - 1
11-75623082-C-T c.592C>T p.R198W Missense 6/15 - 1
11-75623083-G-A c.593G>A p.R198Q Missense 6/15 - 2
11-75625335-C-T c.593+2252C>T - IntronicSNV - 6/14 1
11-75633026-G-A c.593+9943G>A - IntronicSNV - 6/14 1
11-75637567-C-T c.593+14484C>T - IntronicSNV - 6/14 2
11-75650019-T-C c.594-22469T>C - IntronicSNV - 6/14 1
11-75650038-A-G c.594-22450A>G - IntronicSNV - 6/14 1
11-75650920-A-G c.594-21568A>G - IntronicSNV - 6/14 1
11-75660760-C-T c.594-11728C>T - IntronicSNV - 6/14 1
11-75667523-G-A c.594-4965G>A - IntronicSNV - 6/14 1
11-75672499-C-T c.605C>T p.A202V Missense 7/15 - 1
11-75672532-T-C c.638T>C p.V213A Missense 7/15 - 1
11-75672538-A-G c.644A>G p.K215R Missense 7/15 - 1
11-75672543-G-A c.649G>A p.G217R Missense 7/15 - 1
11-75672544-G-A c.650G>A p.G217E Missense 7/15 - 1
11-75672547-A-C c.653A>C p.K218T Missense 7/15 - 6
11-75672550-A-G c.656A>G p.E219G Missense 7/15 - 4
11-75672572-C-A c.678C>A p.L226= Synonymous 7/15 - 1
11-75672572-C-G c.678C>G p.L226= Synonymous 7/15 - 1
11-75672572-C-T c.678C>T p.L226= Synonymous 7/15 - 1
11-75672576-T-G c.682T>G p.S228A Missense 7/15 - 1
11-75672583-G-A c.689G>A p.S230N Missense 7/15 - 1
11-75672583-G-T c.689G>T p.S230I Missense 7/15 - 1
11-75672582-A-C c.688A>C p.S230R Missense 7/15 - 1
11-75672584-C-A c.690C>A p.S230R Missense 7/15 - 1
11-75672584-C-G c.690C>G p.S230R Missense 7/15 - 1
11-75672586-A-G c.692A>G p.N231S Missense 7/15 - 4
11-75672591-CTG-TTT c.697_699delinsTTT p.L233F Missense 7/15 - 1
11-75672910-GA-G c.699+327del - IntronicDeletion - 7/14 1
11-75673186-CT-C c.699+603del - IntronicDeletion - 7/14 1
11-75676369-A-T c.699+3776A>T - IntronicSNV - 7/14 1
11-75677129-G-T c.699+4536G>T - IntronicSNV - 7/14 1
11-75677403-G-A c.699+4810G>A - IntronicSNV - 7/14 1
11-75677403-G-C c.699+4810G>C - IntronicSNV - 7/14 1
11-75679968-T-C c.699+7375T>C - IntronicSNV - 7/14 1
11-75683508-CT-C c.700-10916del - IntronicDeletion - 7/14 1
11-75683895-T-C c.700-10536T>C - IntronicSNV - 7/14 1
11-75684296-A-C c.700-10135A>C - IntronicSNV - 7/14 1
11-75684296-A-T c.700-10135A>T - IntronicSNV - 7/14 1
11-75684869-G-A c.700-9562G>A - IntronicSNV - 7/14 1
11-75685657-G-A c.700-8774G>A - IntronicSNV - 7/14 1
11-75686469-G-C c.700-7962G>C - IntronicSNV - 7/14 1
11-75686584-G-A c.700-7847G>A - IntronicSNV - 7/14 1
11-75686584-G-T c.700-7847G>T - IntronicSNV - 7/14 1
11-75686965-A-G c.700-7466A>G - IntronicSNV - 7/14 1
11-75687360-A-G c.700-7071A>G - IntronicSNV - 7/14 1
11-75687360-A-T c.700-7071A>T - IntronicSNV - 7/14 1
11-75687504-G-A c.700-6927G>A - IntronicSNV - 7/14 1
11-75687531-T-C c.700-6900T>C - IntronicSNV - 7/14 1
11-75687695-A-G c.700-6736A>G - IntronicSNV - 7/14 1
11-75690221-G-C c.700-4210G>C - IntronicSNV - 7/14 1
11-75690221-G-T c.700-4210G>T - IntronicSNV - 7/14 1
11-75691956-T-C c.700-2475T>C - IntronicSNV - 7/14 1
11-75692201-A-G c.700-2230A>G - IntronicSNV - 7/14 1
11-75693733-C-T c.700-698C>T - IntronicSNV - 7/14 1
11-75693885-A-C c.700-546A>C - IntronicSNV - 7/14 1
11-75694037-A-G c.700-394A>G - IntronicSNV - 7/14 1
11-75694278-G-A c.700-153G>A - IntronicSNV - 7/14 1
11-75694431-A-G c.700A>G p.K234E Missense 8/15 - 3
11-75694431-A-T c.700A>T p.K234* Nonsense 8/15 - 1
11-75694438-A-T c.707A>T p.K236I Missense 8/15 - 1
11-75694430-GAA-G c.708_709del p.S237* SpliceAcceptorDeletion 8/15 - 1
11-75694439-A-AT c.708_709insT p.S237* Nonsense 8/15 - 1
11-75694430-GA-G c.709del p.S237Vfs*6 Frameshift 8/15 - 7
11-75694430-G-GA c.709dup p.S237Kfs*2 Frameshift 8/15 - 1
11-75694447-G-A c.716G>A p.C239Y Missense 8/15 - 2
11-75694457-A-T c.726A>T p.L242F Missense 8/15 - 1
11-75694464-TTG-GAC c.733_735delinsGAC p.L245D Missense 8/15 - 1
11-75694465-T-G c.734T>G p.L245W Missense 8/15 - 3
11-75694469-G-T c.738G>T p.V246= Synonymous 8/15 - 1
11-75694476-A-G c.745A>G p.N249D Missense 8/15 - 5
11-75694506-G-A c.775G>A p.G259R Missense 8/15 - 1
11-75694507-G-C c.776G>C p.G259A Missense 8/15 - 1
11-75694509-C-A c.778C>A p.R260= Synonymous 8/15 - 1
11-75694509-C-T c.778C>T p.R260W Missense 8/15 - 1
11-75694511-G-A c.780G>A p.R260= Synonymous 8/15 - 1
11-75694511-G-C c.780G>C p.R260= Synonymous 8/15 - 1
11-75694511-G-T c.780G>T p.R260= Synonymous 8/15 - 1
11-75694514-G-A c.783G>A p.E261= Synonymous 8/15 - 1
11-75694518-G-A c.787G>A p.A263T Missense 8/15 - 2
11-75694518-G-T c.787G>T p.A263S Missense 8/15 - 2
11-75694521-TT-GA c.790_791delinsGA p.L264E Missense 8/15 - 1
11-75694523-A-G c.792A>G p.L264= Synonymous 8/15 - 2
11-75694527-C-T c.796C>T p.H266Y Missense 8/15 - 1
11-75694530-A-G c.799A>G p.K267E Missense 8/15 - 2
11-75694531-A-T c.800A>T p.K267M Missense 8/15 - 1
11-75694535-A-C c.804A>C p.Q268H Missense 8/15 - 1
11-75694535-A-T c.804A>T p.Q268H Missense 8/15 - 1
11-75694549-A-C c.818A>C p.Q273P Missense 8/15 - 6
11-75694558-G-A c.826+1G>A - IntronicSNV - 8/14 1
11-75694563-T-C c.826+6T>C - IntronicSNV - 8/14 1
11-75694637-T-C c.826+80T>C - IntronicSNV - 8/14 1
11-75695533-T-C c.826+976T>C - IntronicSNV - 8/14 1
11-75695542-C-T c.826+985C>T - IntronicSNV - 8/14 1
11-75696514-T-C c.826+1957T>C - IntronicSNV - 8/14 1
11-75697340-T-A c.826+2783T>A - IntronicSNV - 8/14 1
11-75697398-A-G c.826+2841A>G - IntronicSNV - 8/14 1
11-75697645-A-G c.826+3088A>G - IntronicSNV - 8/14 1
11-75697645-A-T c.826+3088A>T - IntronicSNV - 8/14 1
11-75698489-G-A c.826+3932G>A - IntronicSNV - 8/14 1
11-75700114-CT-C c.826+5565del - IntronicDeletion - 8/14 1
11-75700130-G-A c.826+5573G>A - IntronicSNV - 8/14 1
11-75700130-G-C c.826+5573G>C - IntronicSNV - 8/14 1
11-75700130-G-T c.826+5573G>T - IntronicSNV - 8/14 1
11-75702395-A-G c.826+7838A>G - IntronicSNV - 8/14 1
11-75702988-T-G c.826+8431T>G - IntronicSNV - 8/14 1
11-75703327-A-C c.826+8770A>C - IntronicSNV - 8/14 1
11-75703327-A-G c.826+8770A>G - IntronicSNV - 8/14 1
11-75703709-C-T c.826+9152C>T - IntronicSNV - 8/14 1
11-75705591-T-G c.827-9458T>G - IntronicSNV - 8/14 1
11-75706188-A-G c.827-8861A>G - IntronicSNV - 8/14 1
11-75709833-T-C c.827-5216T>C - IntronicSNV - 8/14 1
11-75710207-G-A c.827-4842G>A - IntronicSNV - 8/14 1
11-75710207-G-T c.827-4842G>T - IntronicSNV - 8/14 1
11-75710585-C-T c.827-4464C>T - IntronicSNV - 8/14 1
11-75714911-A-G c.827-138A>G - IntronicSNV - 8/14 1
11-75715051-AG-TA c.829_830delinsTA p.S277Y Missense 9/15 - 1
11-75715052-AG-A c.830del p.S277Mfs*17 Frameshift 9/15 - 1
11-75715061-C-T c.839C>T p.S280L Missense 9/15 - 1
11-75715067-A-C c.845A>C p.E282A Missense 9/15 - 1
11-75715069-C-T c.847C>T p.H283Y Missense 9/15 - 1
11-75715068-GCA-G c.848_849del p.H283Pfs*12 Frameshift 9/15 - 1
11-75715073-T-C c.851T>C p.L284P Missense 9/15 - 4
11-75715074-C-A c.852C>A p.L284= Synonymous 9/15 - 1
11-75715074-C-G c.852C>G p.L284= Synonymous 9/15 - 1
11-75715074-C-T c.852C>T p.L284= Synonymous 9/15 - 1
11-75715074-TC-T c.852del p.K285Nfs*9 Frameshift 9/15 - 1
11-75715078-C-T c.856C>T p.L286F Missense 9/15 - 6
11-75715079-T-G c.857T>G p.L286R Missense 9/15 - 2
11-75715086-C-T c.864C>T p.L288= Synonymous 9/15 - 1
11-75715088-A-G c.866A>G p.Q289R Missense 9/15 - 1
11-75715091-A-G c.869A>G p.K290R Missense 9/15 - 1
11-75715092-G-A c.870G>A p.K290= Synonymous 9/15 - 3
11-75715096-TCC-GAG c.874_876delinsGAG p.S292E Missense 9/15 - 1
11-75715096-T-G c.874T>G p.S292A Missense 9/15 - 1
11-75715099-C-G c.877C>G p.L293V Missense 9/15 - 1
11-75715099-CTA-GAC c.877_879delinsGAC p.L293D Missense 9/15 - 1
11-75715099-CT-GC c.877_878delinsGC p.L293A Missense 9/15 - 1
11-75715102-A-T c.880A>T p.N294Y Missense 9/15 - 1
11-75715105-G-A c.883G>A p.E295K Missense 9/15 - 1
11-75715105-G-T c.883G>T p.E295* Nonsense 9/15 - 2
11-75715111-AGG-TGT c.889_891delinsTGT p.R297C Missense 9/15 - 1
11-75715112-G-C c.890G>C p.R297T Missense 9/15 - 1
11-75715126-G-T c.904G>T p.A302S Missense 9/15 - 1
11-75715133-G-T c.911G>T p.R304I Missense 9/15 - 1
11-75715144-A-G c.911+11A>G - IntronicSNV - 9/14 1
11-75715258-G-A c.911+125G>A - IntronicSNV - 9/14 2
11-75716437-C-T c.911+1304C>T - IntronicSNV - 9/14 1
11-75717629-G-A c.912-949G>A - IntronicSNV - 9/14 1
11-75717729-A-G c.912-849A>G - IntronicSNV - 9/14 1
11-75718218-G-A c.912-360G>A - IntronicSNV - 9/14 1
11-75718581-A-G c.915A>G p.E305= Synonymous 10/15 - 1
11-75718590-G-A c.924G>A p.L308= Synonymous 10/15 - 1
11-75718600-G-T c.934G>T p.A312S Missense 10/15 - 1
11-75718600-TG-T c.934del p.A312Lfs*3 Frameshift 10/15 - 1
11-75718601-C-T c.935C>T p.A312V Missense 10/15 - 1
11-75718603-C-G c.937C>G p.Q313E Missense 10/15 - 1
11-75718610-C-T c.944C>T p.T315I Missense 10/15 - 7
11-75718611-A-C c.945A>C p.T315= Synonymous 10/15 - 1
11-75718611-A-G c.945A>G p.T315= Synonymous 10/15 - 1
11-75718611-A-T c.945A>T p.T315= Synonymous 10/15 - 1
11-75718612-A-G c.946A>G p.I316V Missense 10/15 - 1
11-75718615-C-T c.949C>T p.R317C Missense 10/15 - 8
11-75718619-TG-T c.953del p.C318Sfs*16 Frameshift 10/15 - 1
11-75718624-C-T c.958C>T p.Q320* Nonsense 10/15 - 1
11-75718629-A-G c.963A>G p.L321= Synonymous 10/15 - 1
11-75718633-TC-GA c.967_968inv p.S323D Missense 10/15 - 2
11-75718634-C-G c.968C>G p.S323C Missense 10/15 - 1
11-75718636-G-A c.970G>A p.E324K Missense 10/15 - 3
11-75718639-C-A c.973C>A p.L325I Missense 10/15 - 1
11-75718654-C-G c.988C>G p.P330A Missense 10/15 - 6
11-75718723-C-A c.999+58C>A - IntronicSNV - 10/14 1
11-75719851-A-T c.1000A>T p.N334Y Missense 11/15 - 1
11-75719856-A-G c.1005A>G p.E335= Synonymous 11/15 - 2
11-75719865-T-C c.1014T>C p.D338= Synonymous 11/15 - 1
11-75719872-G-A c.1021G>A p.V341I Missense 11/15 - 1
11-75719875-T-A c.1024T>A p.C342S Missense 11/15 - 1
11-75719876-G-C c.1025G>C p.C342S Missense 11/15 - 1
11-75719876-G-A c.1025G>A p.C342Y Missense 11/15 - 1
11-75719876-G-T c.1025G>T p.C342F Missense 11/15 - 1
11-75719877-C-T c.1026C>T p.C342= Synonymous 11/15 - 2
11-75719880-T-A c.1029T>A p.G343= Synonymous 11/15 - 1
11-75719880-T-C c.1029T>C p.G343= Synonymous 11/15 - 1
11-75719880-T-G c.1029T>G p.G343= Synonymous 11/15 - 1
11-75719886-G-T c.1035G>T p.K345N Missense 11/15 - 1
11-75719893-A-C c.1042A>C p.N348H Missense 11/15 - 1
11-75719904-C-T c.1053C>T p.D351= Synonymous 11/15 - 1
11-75719909-A-G c.1058A>G p.Q353R Missense 11/15 - 1
11-75720240-G-A c.1060+329G>A - IntronicSNV - 11/14 1
11-75721045-G-A c.1060+1134G>A - IntronicSNV - 11/14 1
11-75722128-T-A c.1060+2217T>A - IntronicSNV - 11/14 1
11-75723130-T-C c.1060+3219T>C - IntronicSNV - 11/14 1
11-75723372-AAAAG-A c.1060+3465_1060+3468del - IntronicDeletion - 11/14 1
11-75723654-T-C c.1060+3743T>C - IntronicSNV - 11/14 1
11-75724381-A-T c.1061-3478A>T - IntronicSNV - 11/14 1
11-75725139-C-T c.1061-2720C>T - IntronicSNV - 11/14 1
11-75726788-C-G c.1061-1071C>G - IntronicSNV - 11/14 1
11-75727859-C-T c.1061C>T p.A354V Missense 12/15 - 1
11-75727864-G-A c.1066G>A p.D356N Missense 12/15 - 1
11-75727875-C-A c.1077C>A p.S359R Missense 12/15 - 1
11-75727876-A-G c.1078A>G p.I360V Missense 12/15 - 2
11-75727883-T-C c.1085T>C p.V362A Missense 12/15 - 1
11-75727889-T-C c.1091T>C p.L364P Missense 12/15 - 1
11-75727892-G-T c.1094G>T p.G365V Missense 12/15 - 3
11-75727894-T-C c.1096T>C p.Y366H Missense 12/15 - 1
11-75727895-A-G c.1097A>G p.Y366C Missense 12/15 - 1
11-75727898-C-T c.1100C>T p.T367I Missense 12/15 - 1
11-75727901-C-T c.1103C>T p.A368V Missense 12/15 - 1
11-75727906-C-G c.1108C>G p.L370V Missense 12/15 - 1
11-75727915-A-G c.1117A>G p.M373V Missense 12/15 - 1
11-75727929-C-T c.1131C>T p.F377= Synonymous 12/15 - 6
11-75727943-T-A c.1145T>A p.L382H Missense 12/15 - 1
11-75727948-T-C c.1150T>C p.Y384H Missense 12/15 - 1
11-75727951-CC-TT c.1153_1154delinsTT p.P385F Missense 12/15 - 1
11-75727951-C-T c.1153C>T p.P385S Missense 12/15 - 1
11-75727952-C-A c.1154C>A p.P385H Missense 12/15 - 2
11-75727952-C-T c.1154C>T p.P385L Missense 12/15 - 1
11-75727966-G-T c.1168G>T p.G390W Missense 12/15 - 6
11-75727967-G-C c.1169G>C p.G390A Missense 12/15 - 1
11-75727967-G-T c.1169G>T p.G390V Missense 12/15 - 3
11-75727978-AC-GA c.1180_1181delinsGA p.T394E Missense 12/15 - 1
11-75727978-A-G c.1180A>G p.T394A Missense 12/15 - 1
11-75727980-A-C c.1182A>C p.T394= Synonymous 12/15 - 1
11-75727980-A-G c.1182A>G p.T394= Synonymous 12/15 - 1
11-75727980-A-T c.1182A>T p.T394= Synonymous 12/15 - 1
11-75727982-T-A c.1184T>A p.I395N Missense 12/15 - 1
11-75727987-G-C c.1189G>C p.D397H Missense 12/15 - 2
11-75727991-A-G c.1193A>G p.N398S Missense 12/15 - 2
11-75727999-GA-AG c.1201_1202delinsAG p.D401S Missense 12/15 - 1
11-75728006-T-G c.1208T>G p.L403R Missense 12/15 - 3
11-75728005-C-T c.1207C>T p.L403= Synonymous 12/15 - 1
11-75728007-G-A c.1209G>A p.L403= Synonymous 12/15 - 1
11-75728007-G-C c.1209G>C p.L403= Synonymous 12/15 - 1
11-75728007-G-T c.1209G>T p.L403= Synonymous 12/15 - 1
11-75728008-A-C c.1210A>C p.T404P Missense 12/15 - 1
11-75728010-G-A c.1212G>A p.T404= Synonymous 12/15 - 2
11-75728010-G-C c.1212G>C p.T404= Synonymous 12/15 - 1
11-75728010-G-T c.1212G>T p.T404= Synonymous 12/15 - 1
11-75728013-A-AT c.1215_1216insT p.K406* Nonsense 12/15 - 1
11-75728023-G-A c.1225G>A p.E409K Missense 12/15 - 1
11-75729443-G-GTT c.1226+1426_1226+1427dup - IntronicInsertion - 12/14 1
11-75729443-G-GT c.1226+1427dup - IntronicInsertion - 12/14 1
11-75729522-C-T c.1226+1498C>T - IntronicSNV - 12/14 1
11-75734721-C-A c.1226+6697C>A - IntronicSNV - 12/14 1
11-75736569-T-A c.1226+8545T>A - IntronicSNV - 12/14 1
11-75738015-GA-G c.1226+10002del - IntronicDeletion - 12/14 1
11-75740314-A-G c.1226+12290A>G - IntronicSNV - 12/14 1
11-75742431-G-A c.1226+14407G>A - IntronicSNV - 12/14 1
11-75742818-A-G c.1226+14794A>G - IntronicSNV - 12/14 1
11-75743469-A-G c.1226+15445A>G - IntronicSNV - 12/14 1
11-75745520-G-A c.1226+17496G>A - IntronicSNV - 12/14 1
11-75747622-AT-A c.1226+19600del - IntronicDeletion - 12/14 1
11-75747778-TA-T c.1226+19765del - IntronicDeletion - 12/14 1
11-75749981-A-C c.1226+21957A>C - IntronicSNV - 12/14 1
11-75749981-A-G c.1226+21957A>G - IntronicSNV - 12/14 1
11-75750497-T-C c.1226+22473T>C - IntronicSNV - 12/14 1
11-75750497-T-G c.1226+22473T>G - IntronicSNV - 12/14 1
11-75750576-C-T c.1226+22552C>T - IntronicSNV - 12/14 1
11-75751086-T-C c.1226+23062T>C - IntronicSNV - 12/14 1
11-75751182-T-G c.1226+23158T>G - IntronicSNV - 12/14 1
11-75755130-C-G c.1227-21624C>G - IntronicSNV - 12/14 1
11-75755130-C-T c.1227-21624C>T - IntronicSNV - 12/14 1
11-75755710-C-T c.1227-21044C>T - IntronicSNV - 12/14 1
11-75756203-C-T c.1227-20551C>T - IntronicSNV - 12/14 1
11-75756469-A-G c.1227-20285A>G - IntronicSNV - 12/14 1
11-75757614-A-G c.1227-19140A>G - IntronicSNV - 12/14 1
11-75757892-G-A c.1227-18862G>A - IntronicSNV - 12/14 1
11-75757968-T-C c.1227-18786T>C - IntronicSNV - 12/14 1
11-75761206-A-G c.1227-15548A>G - IntronicSNV - 12/14 1
11-75761242-T-G c.1227-15512T>G - IntronicSNV - 12/14 1
11-75765549-T-C c.1227-11205T>C - IntronicSNV - 12/14 1
11-75765549-T-G c.1227-11205T>G - IntronicSNV - 12/14 1
11-75768697-G-A c.1227-8057G>A - IntronicSNV - 12/14 1
11-75771341-G-A c.1227-5413G>A - IntronicSNV - 12/14 1
11-75771980-G-A c.1227-4774G>A - IntronicSNV - 12/14 1
11-75771980-G-T c.1227-4774G>T - IntronicSNV - 12/14 1
11-75772341-A-G c.1227-4413A>G - IntronicSNV - 12/14 1
11-75773914-T-G c.1227-2840T>G - IntronicSNV - 12/14 1
11-75775157-A-T c.1227-1597A>T - IntronicSNV - 12/14 1
11-75775988-T-C c.1227-766T>C - IntronicSNV - 12/14 1
11-75776762-T-C c.1235T>C p.L412P Missense 13/15 - 2
11-75776761-C-T c.1234C>T p.L412= Synonymous 13/15 - 1
11-75776764-T-C c.1237T>C p.Y413H Missense 13/15 - 1
11-75776774-G-A c.1247G>A p.G416E Missense 13/15 - 1
11-75776785-T-C c.1258T>C p.L420= Synonymous 13/15 - 1
11-75776787-G-A c.1260G>A p.L420= Synonymous 13/15 - 1
11-75776789-A-C c.1262A>C p.Q421P Missense 13/15 - 1
11-75776800-G-C c.1273G>C p.G425R Missense 13/15 - 3
11-75776803-G-A c.1276G>A p.V426I Missense 13/15 - 1
11-75776809-C-G c.1282C>G p.L428V Missense 13/15 - 1
11-75776812-C-T c.1285C>T p.L429= Synonymous 13/15 - 2
11-75776814-G-A c.1287G>A p.L429= Synonymous 13/15 - 1
11-75776814-G-C c.1287G>C p.L429= Synonymous 13/15 - 1
11-75776814-G-T c.1287G>T p.L429= Synonymous 13/15 - 1
11-75776820-A-AT c.1293_1294insT p.N432* Nonsense 13/15 - 1
11-75776823-T-G c.1296T>G p.N432K Missense 13/15 - 1
11-75776825-T-C c.1298T>C p.I433T Missense 13/15 - 1
11-75776828-C-A c.1301C>A p.A434E Missense 13/15 - 1
11-75776828-C-T c.1301C>T p.A434V Missense 13/15 - 1
11-75776830-C-T c.1303C>T p.Q435* Nonsense 13/15 - 1
11-75776833-G-C c.1305+1G>C - IntronicSNV - 13/14 1
11-75777262-G-A c.1305+430G>A - IntronicSNV - 13/14 1
11-75777284-A-G c.1305+452A>G - IntronicSNV - 13/14 1
11-75777810-A-G c.1305+978A>G - IntronicSNV - 13/14 1
11-75778107-C-T c.1305+1275C>T - IntronicSNV - 13/14 1
11-75778853-TAGAGGGCTCCTCCA-T c.1305+2021_1305+2034del - IntronicDeletion - 13/14 1
11-75779031-G-A c.1305+2199G>A - IntronicSNV - 13/14 1
11-75779031-G-C c.1305+2199G>C - IntronicSNV - 13/14 1
11-75780684-A-C c.1305+3852A>C - IntronicSNV - 13/14 1
11-75784920-A-G c.1305+8088A>G - IntronicSNV - 13/14 1
11-75787409-T-G c.1305+10577T>G - IntronicSNV - 13/14 1
11-75788221-C-T c.1305+11389C>T - IntronicSNV - 13/14 1
11-75789491-G-T c.1305+12659G>T - IntronicSNV - 13/14 1
11-75789499-A-T c.1305+12667A>T - IntronicSNV - 13/14 1
11-75790535-GA-G c.1305+13714del - IntronicDeletion - 13/14 1
11-75792274-T-C c.1305+15442T>C - IntronicSNV - 13/14 1
11-75792959-G-A c.1305+16127G>A - IntronicSNV - 13/14 1
11-75792974-A-C c.1305+16142A>C - IntronicSNV - 13/14 1
11-75793531-C-G c.1305+16699C>G - IntronicSNV - 13/14 1
11-75793531-C-T c.1305+16699C>T - IntronicSNV - 13/14 1
11-75794353-AT-A c.1305+17530del - IntronicDeletion - 13/14 1
11-75795108-G-T c.1305+18276G>T - IntronicSNV - 13/14 1
11-75797088-G-A c.1305+20256G>A - IntronicSNV - 13/14 1
11-75799172-A-C c.1305+22340A>C - IntronicSNV - 13/14 1
11-75799172-A-G c.1305+22340A>G - IntronicSNV - 13/14 1
11-75799411-G-A c.1305+22579G>A - IntronicSNV - 13/14 1
11-75799411-G-T c.1305+22579G>T - IntronicSNV - 13/14 1
11-75803334-G-A c.1306-23634G>A - IntronicSNV - 13/14 1
11-75804094-G-A c.1306-22874G>A - IntronicSNV - 13/14 1
11-75804094-G-T c.1306-22874G>T - IntronicSNV - 13/14 1
11-75805215-T-C c.1306-21753T>C - IntronicSNV - 13/14 1
11-75805297-A-G c.1306-21671A>G - IntronicSNV - 13/14 1
11-75805376-C-G c.1306-21592C>G - IntronicSNV - 13/14 1
11-75805724-A-G c.1306-21244A>G - IntronicSNV - 13/14 1
11-75806720-C-T c.1306-20248C>T - IntronicSNV - 13/14 1
11-75807488-C-T c.1306-19480C>T - IntronicSNV - 13/14 1
11-75809913-T-C c.1306-17055T>C - IntronicSNV - 13/14 1
11-75812236-G-A c.1306-14732G>A - IntronicSNV - 13/14 1
11-75812451-A-G c.1306-14517A>G - IntronicSNV - 13/14 1
11-75812451-A-T c.1306-14517A>T - IntronicSNV - 13/14 1
11-75813928-T-C c.1306-13040T>C - IntronicSNV - 13/14 1
11-75814559-T-C c.1306-12409T>C - IntronicSNV - 13/14 1
11-75815499-T-C c.1306-11469T>C - IntronicSNV - 13/14 1
11-75816161-C-G c.1306-10807C>G - IntronicSNV - 13/14 1
11-75816237-A-G c.1306-10731A>G - IntronicSNV - 13/14 1
11-75816237-A-T c.1306-10731A>T - IntronicSNV - 13/14 1
11-75816638-C-A c.1306-10330C>A - IntronicSNV - 13/14 1
11-75817236-T-C c.1306-9732T>C - IntronicSNV - 13/14 1
11-75817444-C-G c.1306-9524C>G - IntronicSNV - 13/14 1
11-75818792-A-G c.1306-8176A>G - IntronicSNV - 13/14 1
11-75818792-A-T c.1306-8176A>T - IntronicSNV - 13/14 1
11-75818794-G-A c.1306-8174G>A - IntronicSNV - 13/14 1
11-75818794-G-T c.1306-8174G>T - IntronicSNV - 13/14 1
11-75819304-T-A c.1306-7664T>A - IntronicSNV - 13/14 1
11-75819483-G-A c.1306-7485G>A - IntronicSNV - 13/14 1
11-75819518-A-T c.1306-7450A>T - IntronicSNV - 13/14 1
11-75820507-G-A c.1306-6461G>A - IntronicSNV - 13/14 1
11-75820609-T-C c.1306-6359T>C - IntronicSNV - 13/14 1
11-75820969-T-C c.1306-5999T>C - IntronicSNV - 13/14 1
11-75821067-G-A c.1306-5901G>A - IntronicSNV - 13/14 1
11-75821675-C-T c.1306-5293C>T - IntronicSNV - 13/14 1
11-75822071-C-T c.1306-4897C>T - IntronicSNV - 13/14 1
11-75822594-G-A c.1306-4374G>A - IntronicSNV - 13/14 1
11-75822924-G-A c.1306-4044G>A - IntronicSNV - 13/14 1
11-75824048-A-G c.1306-2920A>G - IntronicSNV - 13/14 1
11-75825518-T-C c.1306-1450T>C - IntronicSNV - 13/14 1
11-75825673-A-G c.1306-1295A>G - IntronicSNV - 13/14 1
11-75826174-C-T c.1306-794C>T - IntronicSNV - 13/14 1
11-75826970-A-G c.1308A>G p.L436= Synonymous 14/15 - 1
11-75826972-G-A c.1310G>A p.R437K Missense 14/15 - 2
11-75826981-A-G c.1319A>G p.H440R Missense 14/15 - 1
11-75826986-C-T c.1324C>T p.L442= Synonymous 14/15 - 1
11-75826988-A-C c.1326A>C p.L442= Synonymous 14/15 - 1
11-75826988-A-G c.1326A>G p.L442= Synonymous 14/15 - 2
11-75826988-A-T c.1326A>T p.L442= Synonymous 14/15 - 1
11-75826989-G-C c.1327G>C p.G443R Missense 14/15 - 1
11-75826991-G-A c.1329G>A p.G443= Synonymous 14/15 - 1
11-75826992-A-T c.1330A>T p.T444S Missense 14/15 - 1
11-75826993-C-G c.1331C>G p.T444S Missense 14/15 - 1
11-75826993-C-T c.1331C>T p.T444I Missense 14/15 - 1
11-75826995-C-A c.1333C>A p.P445T Missense 14/15 - 1
11-75827004-C-T c.1342C>T p.R448W Missense 14/15 - 2
11-75827005-G-A c.1343G>A p.R448Q Missense 14/15 - 1
11-75827012-C-T c.1350C>T p.T450= Synonymous 14/15 - 1
11-75827018-C-CA c.1358dup p.N453Kfs*15 Frameshift 14/15 - 1
11-75827023-T-C c.1361T>C p.L454P Missense 14/15 - 1
11-75827029-A-G c.1367A>G p.N456S Missense 14/15 - 1
11-75827033-C-T c.1371C>T p.F457= Synonymous 14/15 - 1
11-75827034-A-G c.1372A>G p.M458V Missense 14/15 - 1
11-75827035-T-C c.1373T>C p.M458T Missense 14/15 - 1
11-75827038-A-G c.1376A>G p.E459G Missense 14/15 - 1
11-75827050-T-C c.1388T>C p.M463T Missense 14/15 - 2
11-75828053-G-A c.1397+994G>A - IntronicSNV - 14/14 1
11-75828683-G-A c.1397+1624G>A - IntronicSNV - 14/14 1
11-75828828-A-G c.1397+1769A>G - IntronicSNV - 14/14 1
11-75829424-G-A c.1397+2365G>A - IntronicSNV - 14/14 1
11-75831013-G-C c.1397+3954G>C - IntronicSNV - 14/14 1
11-75831526-G-C c.1397+4467G>C - IntronicSNV - 14/14 1
11-75831739-T-C c.1397+4680T>C - IntronicSNV - 14/14 1
11-75831931-TA-T c.1397+4879del - IntronicDeletion - 14/14 1
11-75832480-T-C c.1397+5421T>C - IntronicSNV - 14/14 1
11-75832872-T-A c.1397+5813T>A - IntronicSNV - 14/14 1
11-75832872-T-C c.1397+5813T>C - IntronicSNV - 14/14 1
11-75832922-G-A c.1397+5863G>A - IntronicSNV - 14/14 1
11-75832922-G-T c.1397+5863G>T - IntronicSNV - 14/14 1
11-75833657-G-A c.1397+6598G>A - IntronicSNV - 14/14 1
11-75833657-G-C c.1397+6598G>C - IntronicSNV - 14/14 1
11-75833980-A-G c.1397+6921A>G - IntronicSNV - 14/14 1
11-75834642-T-C c.1397+7583T>C - IntronicSNV - 14/14 1
11-75834679-A-G c.1397+7620A>G - IntronicSNV - 14/14 1
11-75835303-A-G c.1397+8244A>G - IntronicSNV - 14/14 1
11-75835383-C-A c.1397+8324C>A - IntronicSNV - 14/14 1
11-75835383-C-T c.1397+8324C>T - IntronicSNV - 14/14 1
11-75835638-A-G c.1397+8579A>G - IntronicSNV - 14/14 1
11-75835703-G-A c.1397+8644G>A - IntronicSNV - 14/14 1
11-75837024-C-G c.1397+9965C>G - IntronicSNV - 14/14 1
11-75837024-C-T c.1397+9965C>T - IntronicSNV - 14/14 1
11-75837120-G-A c.1397+10061G>A - IntronicSNV - 14/14 1
11-75837275-A-G c.1397+10216A>G - IntronicSNV - 14/14 1
11-75837276-T-C c.1397+10217T>C - IntronicSNV - 14/14 1
11-75837929-T-A c.1397+10870T>A - IntronicSNV - 14/14 1
11-75838025-A-G c.1397+10966A>G - IntronicSNV - 14/14 1
11-75838563-T-C c.1397+11504T>C - IntronicSNV - 14/14 1
11-75838727-G-A c.1397+11668G>A - IntronicSNV - 14/14 1
11-75840057-A-G c.1398-11698A>G - IntronicSNV - 14/14 1
11-75841399-T-G c.1398-10356T>G - IntronicSNV - 14/14 1
11-75841999-C-G c.1398-9756C>G - IntronicSNV - 14/14 1
11-75841999-C-T c.1398-9756C>T - IntronicSNV - 14/14 1
11-75845343-T-C c.1398-6412T>C - IntronicSNV - 14/14 1
11-75845343-T-G c.1398-6412T>G - IntronicSNV - 14/14 1
11-75845650-C-G c.1398-6105C>G - IntronicSNV - 14/14 1
11-75845650-C-T c.1398-6105C>T - IntronicSNV - 14/14 1
11-75845913-G-A c.1398-5842G>A - IntronicSNV - 14/14 1
11-75846699-A-C c.1398-5056A>C - IntronicSNV - 14/14 1
11-75848346-A-G c.1398-3409A>G - IntronicSNV - 14/14 3
11-75849410-T-G c.1398-2345T>G - IntronicSNV - 14/14 1
11-75849557-C-A c.1398-2198C>A - IntronicSNV - 14/14 1
11-75851766-ACAC-A c.1411_1413del p.T471del InFrameDeletion 15/15 - 1
11-75851773-C-A c.1416C>A p.S472= Synonymous 15/15 - 1
11-75851773-C-G c.1416C>G p.S472= Synonymous 15/15 - 1
11-75851773-C-T c.1416C>T p.S472= Synonymous 15/15 - 1
11-75851776-T-A c.1419T>A p.S473R Missense 15/15 - 1
11-75851778-GC-G c.1421del p.A474Efs*17 Frameshift 15/15 - 1
11-75851783-C-T c.1426C>T p.P476S Missense 15/15 - 1
11-75851788-T-A c.1431T>A p.V477= Synonymous 15/15 - 1
11-75851789-C-T c.1432C>T p.P478S Missense 15/15 - 1
11-75851794-G-C c.1437G>C p.K479N Missense 15/15 - 1
11-75851794-G-T c.1437G>T p.K479N Missense 15/15 - 1
11-75851797-A-C c.1440A>C p.R480S Missense 15/15 - 1
11-75851797-A-T c.1440A>T p.R480S Missense 15/15 - 1
11-75851801-A-G c.1444A>G p.S482G Missense 15/15 - 1
11-75851806-C-T c.1449C>T p.S483= Synonymous 15/15 - 3
11-75851814-G-T c.1457G>T p.G486V Missense 15/15 - 6
11-75851822-G-T c.1465G>T p.D489Y Missense 15/15 - 1
11-75851825-GTA-ATG c.1468_1470delinsATG p.V490M Missense 15/15 - 1
11-75851826-T-A c.1469T>A p.V490E Missense 15/15 - 1
11-75851827-A-C c.1470A>C p.V490= Synonymous 15/15 - 1
11-75851827-A-G c.1470A>G p.V490= Synonymous 15/15 - 1
11-75851827-A-T c.1470A>T p.V490= Synonymous 15/15 - 1
11-75851840-G-A c.1483G>A p.G495R Missense 15/15 - 2
11-75851840-G-C c.1483G>C p.G495R Missense 15/15 - 2
11-75851840-GG-AA c.1483_1484delinsAA p.G495K Missense 15/15 - 1
11-75851840-G-T c.1483G>T p.G495W Missense 15/15 - 1
11-75851841-G-A c.1484G>A p.G495E Missense 15/15 - 2
11-75851849-TCA-GAC c.1492_1494delinsGAC p.S498D Missense 15/15 - 1
11-75851849-T-G c.1492T>G p.S498A Missense 15/15 - 1
11-75851852-C-A c.1495C>A p.P499T Missense 15/15 - 1
11-75851854-A-G c.1497A>G p.P499= Synonymous 15/15 - 1
11-75851867-C-T c.1510C>T p.R504* Nonsense 15/15 - 2
11-75851868-G-A c.1511G>A p.R504Q Missense 15/15 - 2
11-75851873-C-T c.1516C>T p.R506W Missense 15/15 - 2
11-75851876-G-A c.1519G>A p.A507T Missense 15/15 - 1
11-75851877-C-T c.1520C>T p.A507V Missense 15/15 - 1
11-75851885-G-A c.1528G>A p.E510K Missense 15/15 - 5
11-75851894-AG-CC c.1537_1538delinsCC p.R513P Missense 15/15 - 2
11-75851895-G-C c.1538G>C p.R513T Missense 15/15 - 1
11-75851907-A-G c.1550A>G p.K517R Missense 15/15 - 1
11-75851909-A-G c.1552A>G p.T518A Missense 15/15 - 1
11-75851916-C-A c.1559C>A p.P520H Missense 15/15 - 1
11-75851918-CC-TT c.1561_1562delinsTT p.P521F Missense 15/15 - 1
11-75851921-AG-GA c.1564_1565delinsGA p.S522D Missense 15/15 - 1
11-75851921-AG-GC c.1564_1565delinsGC p.S522A Missense 15/15 - 1
11-75851921-AGT-GAG c.1564_1566delinsGAG p.S522E Missense 15/15 - 1
11-75851924-TA-GC c.1567_1568delinsGC p.Y523A Missense 15/15 - 1
11-75851926-C-G c.1569C>G p.Y523* Nonsense 15/15 - 1
11-75851928-A-G c.1571A>G p.N524S Missense 15/15 - 1
11-75851931-C-T c.1574C>T p.S525L Missense 15/15 - 1
11-75851932-A-T c.1575A>T p.S525= Synonymous 15/15 - 1
11-75851937-T-C c.1580T>C p.L527S Missense 15/15 - 1
11-75851946-C-T c.1589C>T p.P530L Missense 15/15 - 1
11-75851948-G-C c.1591G>C p.V531L Missense 15/15 - 1
11-75851948-G-T c.1591G>T p.V531L Missense 15/15 - 1
11-75851955-CC-TG c.1598_1599delinsTG p.T533M Missense 15/15 - 1
11-75851956-C-A c.1599C>A p.T533= Synonymous 15/15 - 1
11-75851956-C-G c.1599C>G p.T533= Synonymous 15/15 - 1
11-75851956-C-T c.1599C>T p.T533= Synonymous 15/15 - 3
11-75851957-G-A c.1600G>A p.V534I Missense 15/15 - 2
11-75851957-G-T c.1600G>T p.V534F Missense 15/15 - 2
11-75851957-GTC-ATG c.1600_1602delinsATG p.V534M Missense 15/15 - 1
11-75851960-CC-TA c.1603_1604delinsTA p.P535Y Missense 15/15 - 1
11-75851960-C-T c.1603C>T p.P535S Missense 15/15 - 2
11-75851965-C-T c.1608C>T p.S536= Synonymous 15/15 - 1
11-75851967-T-A c.1610T>A p.M537K Missense 15/15 - 2
11-75851971-A-T c.1614A>T p.G538= Synonymous 15/15 - 1
11-75851976-C-T c.1619C>T p.T540I Missense 15/15 - 1
11-75851977-C-A c.1620C>A p.T540= Synonymous 15/15 - 1
11-75851977-C-G c.1620C>G p.T540= Synonymous 15/15 - 1
11-75851977-C-T c.1620C>T p.T540= Synonymous 15/15 - 3
11-75851978-G-A c.1621G>A p.E541K Missense 15/15 - 2
11-75851986-G-T c.1629G>T p.K543N Missense 15/15 - 1
11-75851995-T-A c.1638T>A p.S546= Synonymous 15/15 - 1
11-75851995-T-C c.1638T>C p.S546= Synonymous 15/15 - 1
11-75851995-T-G c.1638T>G p.S546= Synonymous 15/15 - 3
11-75851999-T-C c.1642T>C p.S548P Missense 15/15 - 1
11-75852000-C-G c.1643C>G p.S548C Missense 15/15 - 6
11-75852005-T-G c.1648T>G p.S550A Missense 15/15 - 1
11-75852006-C-G c.1649C>G p.S550C Missense 15/15 - 1
11-75852007-C-T c.1650C>T p.S550= Synonymous 15/15 - 1
11-75852010-G-T c.1653G>T p.L551F Missense 15/15 - 2
11-75852015-C-A c.1658C>A p.T553N Missense 15/15 - 1
11-75852018-C-T c.1661C>T p.S554F Missense 15/15 - 2
11-75852019-C-T c.1662C>T p.S554= Synonymous 15/15 - 2
11-75852028-C-G c.1671C>G p.F557L Missense 15/15 - 1
11-75852028-C-T c.1671C>T p.F557= Synonymous 15/15 - 1
11-75852032-A-T c.1675A>T p.K559* Nonsense 15/15 - 1
11-75852033-A-G c.1676A>G p.K559R Missense 15/15 - 1
11-75852039-A-G c.1682A>G p.N561S Missense 15/15 - 1
11-75852040-C-A c.1683C>A p.N561K Missense 15/15 - 4
11-75852040-C-G c.1683C>G p.N561K Missense 15/15 - 3
11-75852040-C-T c.1683C>T p.N561= Synonymous 15/15 - 1
11-75852042-A-G c.1685A>G p.K562R Missense 15/15 - 1
11-75852050-G-A c.1693G>A p.G565R Missense 15/15 - 1
11-75852053-G-A c.1696G>A p.E566K Missense 15/15 - 2
11-75852056-G-T c.1699G>T p.D567Y Missense 15/15 - 5
11-75852059-CTA-ATG c.1702_1704delinsATG p.L568M Missense 15/15 - 1
11-75852062-G-C c.1705G>C p.V569L Missense 15/15 - 1
11-75852066-GC-AG c.1709_1710delinsAG p.G570E Missense 15/15 - 2
11-75852068-AG-GC c.1711_1712delinsGC p.S571A Missense 15/15 - 1
11-75852070-C-G c.1713C>G p.S571R Missense 15/15 - 2
11-75852073-A-C c.1716A>C p.L572F Missense 15/15 - 2
11-75852073-A-T c.1716A>T p.L572F Missense 15/15 - 2
11-75852082-C-T c.1725C>T p.G575= Synonymous 15/15 - 1
11-75852085-C-T c.1728C>T p.H576= Synonymous 15/15 - 2
11-75852086-G-A c.1729G>A p.A577T Missense 15/15 - 1
11-75852088-G-A c.1731G>A p.A577= Synonymous 15/15 - 2
11-75852088-G-C c.1731G>C p.A577= Synonymous 15/15 - 1
11-75852088-G-T c.1731G>T p.A577= Synonymous 15/15 - 1
11-75852092-G-A c.1735G>A p.V579M Missense 15/15 - 1
11-75852096-A-G c.1739A>G p.H580R Missense 15/15 - 2
11-75852097-C-A c.1740C>A p.H580Q Missense 15/15 - 1
11-75852097-C-T c.1740C>T p.H580= Synonymous 15/15 - 1
11-75852099-C-T c.1742C>T p.P581L Missense 15/15 - 2
11-75852100-T-C c.1743T>C p.P581= Synonymous 15/15 - 2
11-75852113-G-A c.1756G>A p.G586R Missense 15/15 - 1
11-75852111-AAGG-A c.1757_1759del p.G586del InFrameDeletion 15/15 - 2
11-75852116-G-T c.1759G>T p.E587* Nonsense 15/15 - 4
11-75852124-C-G c.1767C>G p.L589= Synonymous 15/15 - 1
11-75852124-C-T c.1767C>T p.L589= Synonymous 15/15 - 2
11-75852126-C-T c.1769C>T p.S590F Missense 15/15 - 1
11-75852128-G-A c.1771G>A p.G591R Missense 15/15 - 3
11-75852128-G-C c.1771G>C p.G591R Missense 15/15 - 1
11-75852134-C-T c.1777C>T p.R593W Missense 15/15 - 1
11-75852134-CG-C c.1780del p.A594Pfs*56 Frameshift 15/15 - 1
11-75852137-G-A c.1780G>A p.A594T Missense 15/15 - 1
11-75852138-C-T c.1781C>T p.A594V Missense 15/15 - 1
11-75852149-G-T c.1792G>T p.G598C Missense 15/15 - 4
11-75852155-C-T c.1798C>T p.L600F Missense 15/15 - 1
11-75852161-C-T c.1804C>T p.P602S Missense 15/15 - 1
11-75852166-C-T c.1809C>T p.S603= Synonymous 15/15 - 1
11-75852175-C-A c.1818C>A p.A606= Synonymous 15/15 - 1
11-75852175-C-G c.1818C>G p.A606= Synonymous 15/15 - 1
11-75852175-C-T c.1818C>T p.A606= Synonymous 15/15 - 2
11-75852176-G-A c.1819G>A p.G607R Missense 15/15 - 1
11-75852177-G-A c.1820G>A p.G607E Missense 15/15 - 2
11-75852178-G-A c.1821G>A p.G607= Synonymous 15/15 - 3
11-75852178-G-C c.1821G>C p.G607= Synonymous 15/15 - 1
11-75852178-G-T c.1821G>T p.G607= Synonymous 15/15 - 1
11-75852179-T-C c.1822T>C p.S608P Missense 15/15 - 1
11-75852180-C-T c.1823C>T p.S608F Missense 15/15 - 5
11-75852182-G-A c.1825G>A p.A609T Missense 15/15 - 2
11-75852182-G-T c.1825G>T p.A609S Missense 15/15 - 1
11-75852184-C-G c.1827C>G p.A609= Synonymous 15/15 - 1
11-75852185-A-G c.1828A>G p.S610G Missense 15/15 - 2
11-75852191-C-T c.1834C>T p.Q612* Nonsense 15/15 - 1
11-75852198-C-T c.1841C>T p.P614L Missense 15/15 - 1
11-75852200-GGC-TGA c.1843_1845delinsTGA p.G615* Nonsense 15/15 - 1
11-75852203-G-A c.1846G>A p.E616K Missense 15/15 - 2
11-75852209-C-T c.1852C>T p.H618Y Missense 15/15 - 1
11-75852211-C-T c.1854C>T p.H618= Synonymous 15/15 - 1
11-75852212-C-A c.1855C>A p.P619T Missense 15/15 - 1
11-75852213-C-T c.1856C>T p.P619L Missense 15/15 - 3
11-75852215-G-A c.1858G>A p.V620I Missense 15/15 - 5
11-75852227-G-C c.1870G>C p.E624Q Missense 15/15 - 1
11-75852240-C-T c.1883C>T p.T628I Missense 15/15 - 1
11-75852245-G-T c.1888G>T p.E630* Nonsense 15/15 - 1
11-75852250-A-C c.1893A>C p.Q631H Missense 15/15 - 1
11-75852250-A-T c.1893A>T p.Q631H Missense 15/15 - 1
11-75852254-G-A c.1897G>A p.E633K Missense 15/15 - 3
11-75852265-C-A c.1908C>A p.I636= Synonymous 15/15 - 3
11-75852269-C-A c.1912C>A p.L638M Missense 15/15 - 1
11-75852269-GC-G c.1912del p.L638Wfs*12 Frameshift 15/15 - 1
11-75852269-C-T c.1912C>T p.L638= Synonymous 15/15 - 1
11-75852271-G-A c.1914G>A p.L638= Synonymous 15/15 - 1
11-75852271-G-C c.1914G>C p.L638= Synonymous 15/15 - 1
11-75852271-G-T c.1914G>T p.L638= Synonymous 15/15 - 1
11-75852275-G-A c.1918G>A p.A640T Missense 15/15 - 1
11-75852279-C-T c.1922C>T p.T641I Missense 15/15 - 2
11-75852281-G-T c.1924G>T p.G642C Missense 15/15 - 1
11-75852286-C-T c.1929C>T p.F643= Synonymous 15/15 - 2
11-75852287-G-A c.1930G>A p.A644T Missense 15/15 - 2
11-75852292-A-C c.1935A>C p.S645= Synonymous 15/15 - 1
11-75852292-A-G c.1935A>G p.S645= Synonymous 15/15 - 1
11-75852292-A-T c.1935A>T p.S645= Synonymous 15/15 - 3
11-75852293-G-C c.1936G>C p.G646R Missense 15/15 - 3
11-75852303-T-A c.1946T>A p.L649Q Missense 15/15 - 3
11-75852318-G-A c.1961G>A p.C654Y Missense 15/15 - 1
11-75852324-C-T c.1967C>T p.P656L Missense 15/15 - 1
11-75852331-C-T c.1974C>T p.D658= Synonymous 15/15 - 1
11-75852336-C-A c.1979C>A p.A660D Missense 15/15 - 3
11-75852336-C-G c.1979C>G p.A660G Missense 15/15 - 1
11-75852345-T-G c.1988T>G p.V663G Missense 15/15 - 1
11-75852345-T-TA c.1989dup p.E664Rfs*3 Frameshift 15/15 - 1
11-75852349-G-C c.1992G>C p.E664D Missense 15/15 - 2
11-75852349-G-T c.1992G>T p.E664D Missense 15/15 - 1
11-75852356-G-A c.1999G>A p.E667K Missense 15/15 - 6
11-75852369-G-A c.2012G>A p.G671E Missense 15/15 - 5
11-75852369-G-T c.2012G>T p.G671V Missense 15/15 - 1
11-75852371-G-T c.2014G>T p.E672* Nonsense 15/15 - 2
11-75852377-G-A c.2020G>A p.E674K Missense 15/15 - 1
11-75852386-T-C c.2029T>C p.S677P Missense 15/15 - 1
11-75852387-C-T c.2030C>T p.S677F Missense 15/15 - 1
11-75852389-C-T c.2032C>T p.R678* Nonsense 15/15 - 1
11-75852390-G-A c.2033G>A p.R678Q Missense 15/15 - 2
11-75852394-G-A c.2037G>A p.R679= Synonymous 15/15 - 1
11-75852402-C-G c.2045C>G p.A682G Missense 15/15 - 1
11-75852402-C-T c.2045C>T p.A682V Missense 15/15 - 1
11-75852416-G-A c.2059G>A p.V687I Missense 15/15 - 1
11-75852417-T-A c.2060T>A p.V687E Missense 15/15 - 1
11-75852418-A-G c.2061A>G p.V687= Synonymous 15/15 - 1
11-75852423-G-A c.2066G>A p.S689N Missense 15/15 - 1
11-75852428-C-T c.2071C>T p.R691C Missense 15/15 - 6
11-75852430-C-A c.2073C>A p.R691= Synonymous 15/15 - 1
11-75852430-C-G c.2073C>G p.R691= Synonymous 15/15 - 1
11-75852430-C-T c.2073C>T p.R691= Synonymous 15/15 - 1
11-75852431-C-A c.2074C>A p.R692= Synonymous 15/15 - 2
11-75852431-C-T c.2074C>T p.R692W Missense 15/15 - 1
11-75852433-G-A c.2076G>A p.R692= Synonymous 15/15 - 1
11-75852433-G-C c.2076G>C p.R692= Synonymous 15/15 - 1
11-75852433-G-T c.2076G>T p.R692= Synonymous 15/15 - 1
11-75852432-G-T c.2075G>T p.R692L Missense 15/15 - 1
11-75852435-C-T c.2078C>T p.P693L Missense 15/15 - 1
11-75852436-G-A c.2079G>A p.P693= Synonymous 15/15 - 2
11-75852437-C-T c.2080C>T p.R694C Missense 15/15 - 2
11-75852438-G-A c.2081G>A p.R694H Missense 15/15 - 1
11-75852442-G-C c.2085G>C p.R695S Missense 15/15 - 1
11-75852448-C-A c.2091C>A p.S697= Synonymous 15/15 - 1
11-75852448-C-G c.2091C>G p.S697= Synonymous 15/15 - 9
11-75852448-C-T c.2091C>T p.S697= Synonymous 15/15 - 11
11-75852449-G-A c.2092G>A p.D698N Missense 15/15 - 6
11-75852456-G-T c.2099G>T p.*700Lext*18 Missense 15/15 - 2
11-75852968-G-A c.*511G>A - 3-UTRSNV 15/15 - 1
11-75853013-T-C c.*556T>C - 3-UTRSNV 15/15 - 2
11-75853425-T-C c.*968T>C - 3-UTRSNV 15/15 - 1