NRAS NRAS proto-oncogene, GTPase

Annotation transcript: NM_002524.5

495 unique variant annotations were identified in 1361 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
1-115248251-T-C c.*2464A>G - 3_prime_UTR_variant 7/7 - 1
1-115249843-G-A c.*872C>T - 3_prime_UTR_variant 7/7 - 2
1-115250755-C-T c.*43+20G>A - IntronicSNV - 6/6 1
1-115251162-C-A c.564G>T p.V188= Synonymous 5/7 - 1
1-115251162-C-G c.564G>C p.V188= Synonymous 5/7 - 1
1-115251162-C-T c.564G>A p.V188= Synonymous 5/7 - 1
1-115251162-TC-T c.564del p.M189Cfs*19 Frameshift 5/7 - 1
1-115251169-C-A c.557G>T p.C186F Missense 5/7 - 2
1-115251169-C-T c.557G>A p.C186Y Missense 5/7 - 1
1-115251169-C-G c.557G>C p.C186S Missense 5/7 - 9
1-115251170-A-T c.556T>A p.C186S Missense 5/7 - 9
1-115251172-G-A c.554C>T p.P185L Missense 5/7 - 1
1-115251172-GG-TT c.553_554delinsAA p.P185K Missense 5/7 - 1
1-115251173-G-A c.553C>T p.P185S Missense 5/7 - 1
1-115251178-CC-GT c.547_548delinsAC p.G183T Missense 5/7 - 1
1-115251179-C-T c.547G>A p.G183R Missense 5/7 - 1
1-115251183-A-G c.543T>C p.C181= Synonymous 5/7 - 1
1-115251184-CA-GC c.541_542delinsGC p.C181A Missense 5/7 - 8
1-115251184-C-G c.542G>C p.C181S Missense 5/7 - 10
1-115251185-A-T c.541T>A p.C181S Missense 5/7 - 10
1-115251188-C-T c.538G>A p.G180S Missense 5/7 - 1
1-115251190-T-A c.536A>T p.Q179L Missense 5/7 - 1
1-115251190-T-C c.536A>G p.Q179R Missense 5/7 - 1
1-115251191-G-A c.535C>T p.Q179* Nonsense 5/7 - 2
1-115251196-C-A c.530G>T p.G177V Missense 5/7 - 1
1-115251197-C-A c.529G>T p.G177W Missense 5/7 - 1
1-115251198-A-C c.528T>G p.D176E Missense 5/7 - 1
1-115251198-A-T c.528T>A p.D176E Missense 5/7 - 1
1-115251217-T-C c.509A>G p.K170R Missense 5/7 - 1
1-115251217-TT-GC c.508_509delinsGC p.K170A Missense 5/7 - 1
1-115251222-C-A c.504G>T p.M168I Missense 5/7 - 1
1-115251222-C-T c.504G>A p.M168I Missense 5/7 - 1
1-115251224-T-A c.502A>T p.M168L Missense 5/7 - 1
1-115251224-T-G c.502A>C p.M168L Missense 5/7 - 1
1-115251225-TC-AT c.500_501delinsAT p.R167H Missense 5/7 - 1
1-115251226-C-T c.500G>A p.R167Q Missense 5/7 - 1
1-115251228-G-A c.498C>T p.Y166= Synonymous 5/7 - 1
1-115251229-T-C c.497A>G p.Y166C Missense 5/7 - 1
1-115251232-TG-T c.493del p.Q165Sfs*4 Frameshift 5/7 - 1
1-115251234-GC-TT c.491_492delinsAA p.R164Q Missense 5/7 - 2
1-115251235-C-T c.491G>A p.R164H Missense 5/7 - 2
1-115251236-G-A c.490C>T p.R164C Missense 5/7 - 2
1-115251238-A-T c.488T>A p.I163K Missense 5/7 - 1
1-115251242-C-A c.484G>T p.E162* Nonsense 5/7 - 1
1-115251244-CT-GC c.481_482delinsGC p.R161A Missense 5/7 - 2
1-115251249-C-A c.477G>T p.L159= Synonymous 5/7 - 2
1-115251249-C-G c.477G>C p.L159= Synonymous 5/7 - 1
1-115251249-C-T c.477G>A p.L159= Synonymous 5/7 - 1
1-115251251-G-A c.475C>T p.L159= Synonymous 5/7 - 1
1-115251259-A-G c.467T>C p.F156S Missense 5/7 - 1
1-115251258-A-C c.468T>G p.F156L Missense 5/7 - 3
1-115251258-A-T c.468T>A p.F156L Missense 5/7 - 3
1-115251260-A-G c.466T>C p.F156L Missense 5/7 - 3
1-115251263-C-T c.463G>A p.A155T Missense 5/7 - 3
1-115251264-A-G c.462T>C p.D154= Synonymous 5/7 - 1
1-115251265-T-C c.461A>G p.D154G Missense 5/7 - 1
1-115251266-C-A c.460G>T p.D154Y Missense 5/7 - 1
1-115251268-T-A c.458A>T p.E153V Missense 5/7 - 1
1-115251268-T-G c.458A>C p.E153A Missense 5/7 - 1
1-115251271-A-C c.455T>G p.V152G Missense 5/7 - 1
1-115251274-C-T c.452G>A p.G151D Missense 5/7 - 1
1-115251275-C-A c.451G>T p.G151C Missense 5/7 - 1
1-115252191-T-C c.449A>G p.Q150R Missense 4/7 - 2
1-115252192-G-A c.448C>T p.Q150* Nonsense 4/7 - 1
1-115252194-C-G c.446G>C p.R149T Missense 4/7 - 1
1-115252194-C-T c.446G>A p.R149K Missense 4/7 - 1
1-115252197-G-GC c.442_443insG p.T148Sfs*6 Frameshift 4/7 - 1
1-115252200-T-A c.440A>T p.K147M Missense 4/7 - 1
1-115252202-G-A c.438C>T p.A146= Synonymous 4/7 - 2
1-115252202-G-C c.438C>G p.A146= Synonymous 4/7 - 2
1-115252202-G-T c.438C>A p.A146= Synonymous 4/7 - 2
1-115252203-G-A c.437C>T p.A146V Missense 4/7 - 23
1-115252203-G-T c.437C>A p.A146D Missense 4/7 - 1
1-115252204-C-A c.436G>T p.A146S Missense 4/7 - 1
1-115252204-C-G c.436G>C p.A146P Missense 4/7 - 8
1-115252204-C-T c.436G>A p.A146T Missense 4/7 - 56
1-115252205-T-C c.435A>G p.S145= Synonymous 4/7 - 1
1-115252209-G-A c.431C>T p.T144I Missense 4/7 - 1
1-115252209-G-C c.431C>G p.T144S Missense 4/7 - 1
1-115252210-T-C c.430A>G p.T144A Missense 4/7 - 2
1-115252209-G-GT c.430dup p.T144Nfs*10 Frameshift 4/7 - 1
1-115252213-C-A c.427G>T p.E143* Nonsense 4/7 - 1
1-115252213-C-T c.427G>A p.E143K Missense 4/7 - 1
1-115252215-A-G c.425T>C p.I142T Missense 4/7 - 1
1-115252217-G-C c.423C>G p.F141L Missense 4/7 - 1
1-115252217-G-T c.423C>A p.F141L Missense 4/7 - 1
1-115252219-A-G c.421T>C p.F141L Missense 4/7 - 1
1-115252221-G-A c.419C>T p.P140L Missense 4/7 - 1
1-115252222-G-A c.418C>T p.P140S Missense 4/7 - 1
1-115252224-A-G c.416T>C p.I139T Missense 4/7 - 1
1-115252225-T-G c.415A>C p.I139L Missense 4/7 - 1
1-115252227-C-T c.413G>A p.G138E Missense 4/7 - 2
1-115252228-C-G c.412G>C p.G138R Missense 4/7 - 3
1-115252228-C-T c.412G>A p.G138R Missense 4/7 - 3
1-115252230-T-C c.410A>G p.Y137C Missense 4/7 - 2
1-115252231-A-T c.409T>A p.Y137N Missense 4/7 - 1
1-115252232-A-G c.408T>C p.S136= Synonymous 4/7 - 1
1-115252235-C-A c.405G>T p.K135N Missense 4/7 - 1
1-115252235-C-G c.405G>C p.K135N Missense 4/7 - 1
1-115252236-T-C c.404A>G p.K135R Missense 4/7 - 3
1-115252237-T-TG c.402dup p.K135Qfs*9 Frameshift 4/7 - 1
1-115252239-G-A c.401C>T p.A134V Missense 4/7 - 1
1-115252242-A-T c.398T>A p.L133Q Missense 4/7 - 1
1-115252245-T-C c.395A>G p.E132G Missense 4/7 - 1
1-115252245-TC-GT c.394_395delinsAC p.E132T Missense 4/7 - 1
1-115252245-T-G c.395A>C p.E132A Missense 4/7 - 1
1-115252246-C-T c.394G>A p.E132K Missense 4/7 - 10
1-115252247-G-A c.393C>T p.H131= Synonymous 4/7 - 1
1-115252248-T-C c.392A>G p.H131R Missense 4/7 - 12
1-115252255-G-A c.385C>T p.Q129* Nonsense 4/7 - 1
1-115252255-G-C c.385C>G p.Q129E Missense 4/7 - 2
1-115252260-G-A c.380C>T p.T127I Missense 4/7 - 1
1-115252267-C-G c.373G>C p.V125L Missense 4/7 - 1
1-115252270-T-C c.370A>G p.T124A Missense 4/7 - 1
1-115252271-CCT-ATG c.367_369delinsCAT p.R123H Missense 4/7 - 1
1-115252272-C-T c.368G>A p.R123K Missense 4/7 - 1
1-115252272-CT-GC c.367_368delinsGC p.R123A Missense 4/7 - 1
1-115252273-T-A c.367A>T p.R123W Missense 4/7 - 1
1-115252273-T-C c.367A>G p.R123G Missense 4/7 - 1
1-115252274-TG-AT c.365_366delinsAT p.T122N Missense 4/7 - 1
1-115252276-T-C c.364A>G p.T122A Missense 4/7 - 1
1-115252280-C-T c.360G>A p.L120= Synonymous 4/7 - 2
1-115252281-A-C c.359T>G p.L120W Missense 4/7 - 1
1-115252285-C-T c.355G>A p.D119N Missense 4/7 - 1
1-115252287-CA-GT c.352_353delinsAC p.C118T Missense 4/7 - 1
1-115252287-C-T c.353G>A p.C118Y Missense 4/7 - 3
1-115252287-C-G c.353G>C p.C118S Missense 4/7 - 2
1-115252288-A-T c.352T>A p.C118S Missense 4/7 - 2
1-115252289-C-A c.351G>T p.K117N Missense 4/7 - 20
1-115252289-C-G c.351G>C p.K117N Missense 4/7 - 20
1-115252290-T-C c.350A>G p.K117R Missense 4/7 - 3
1-115252290-T-G c.350A>C p.K117T Missense 4/7 - 1
1-115252291-T-C c.349A>G p.K117E Missense 4/7 - 1
1-115252293-T-A c.347A>T p.N116I Missense 4/7 - 1
1-115252294-T-G c.346A>C p.N116H Missense 4/7 - 1
1-115252297-C-A c.343G>T p.G115* Nonsense 4/7 - 1
1-115252295-TC-T c.344del p.G115Efs*46 Frameshift 4/7 - 1
1-115252308-A-T c.332T>A p.M111K Missense 4/7 - 1
1-115252309-T-C c.331A>G p.M111V Missense 4/7 - 2
1-115252310-AGG-TTA c.328_330delinsTAA p.P110* Nonsense 4/7 - 1
1-115252311-G-A c.329C>T p.P110L Missense 4/7 - 1
1-115252311-GG-TA c.328_329delinsTA p.P110Y Missense 4/7 - 1
1-115252312-G-A c.328C>T p.P110S Missense 4/7 - 1
1-115252312-G-C c.328C>G p.P110A Missense 4/7 - 7
1-115252313-TAC-ACA c.325_327delinsTGT p.V109C Missense 4/7 - 1
1-115252317-TC-CA c.322_323delinsTG p.D108C Missense 4/7 - 1
1-115252317-T-G c.323A>C p.D108A Missense 4/7 - 1
1-115252320-T-C c.320A>G p.D107G Missense 4/7 - 1
1-115252322-C-A c.318G>T p.S106= Synonymous 4/7 - 1
1-115252322-C-G c.318G>C p.S106= Synonymous 4/7 - 1
1-115252322-C-T c.318G>A p.S106= Synonymous 4/7 - 1
1-115252323-G-A c.317C>T p.S106L Missense 4/7 - 1
1-115252330-T-A c.310A>T p.K104* Nonsense 4/7 - 1
1-115252333-C-T c.307G>A p.V103I Missense 4/7 - 1
1-115252336-G-A c.304C>T p.R102* Nonsense 4/7 - 2
1-115252343-CTG-AAA c.295_297delinsTTT p.Q99F Missense 4/7 - 1
1-115252344-T-A c.296A>T p.Q99L Missense 4/7 - 2
1-115252345-G-A c.295C>T p.Q99* Nonsense 4/7 - 1
1-115252609-G-A c.291-260C>T - IntronicSNV - 3/6 3
1-115252609-G-C c.291-260C>G - IntronicSNV - 3/6 3
1-115252609-G-T c.291-260C>A - IntronicSNV - 3/6 3
1-115256421-C-G c.290G>C p.R97T Missense 3/7 - 2
1-115256427-A-G c.284T>C p.L95P Missense 3/7 - 2
1-115256427-A-T c.284T>A p.L95H Missense 3/7 - 1
1-115256437-C-A c.274G>T p.D92Y Missense 3/7 - 1
1-115256437-C-T c.274G>A p.D92N Missense 3/7 - 2
1-115256438-C-A c.273G>T p.A91= Synonymous 3/7 - 1
1-115256438-C-G c.273G>C p.A91= Synonymous 3/7 - 1
1-115256438-C-T c.273G>A p.A91= Synonymous 3/7 - 2
1-115256439-G-A c.272C>T p.A91V Missense 3/7 - 2
1-115256441-A-T c.270T>A p.F90L Missense 3/7 - 1
1-115256440-CA-C c.270del p.F90Lfs*14 Frameshift 3/7 - 2
1-115256446-A-C c.265T>G p.S89A Missense 3/7 - 1
1-115256451-C-T c.260G>A p.S87N Missense 3/7 - 1
1-115256451-CT-GC c.259_260delinsGC p.S87A Missense 3/7 - 1
1-115256457-T-C c.254A>G p.N85S Missense 3/7 - 1
1-115256461-T-C c.250A>G p.I84V Missense 3/7 - 1
1-115256462-G-A c.249C>T p.A83= Synonymous 3/7 - 1
1-115256462-G-C c.249C>G p.A83= Synonymous 3/7 - 1
1-115256462-G-T c.249C>A p.A83= Synonymous 3/7 - 1
1-115256463-G-A c.248C>T p.A83V Missense 3/7 - 4
1-115256463-G-C c.248C>G p.A83G Missense 3/7 - 3
1-115256463-GC-CA c.247_248delinsTG p.A83C Missense 3/7 - 1
1-115256464-C-T c.247G>A p.A83T Missense 3/7 - 1
1-115256465-A-T c.246T>A p.F82L Missense 3/7 - 1
1-115256466-A-G c.245T>C p.F82S Missense 3/7 - 1
1-115256470-C-T c.241G>A p.V81I Missense 3/7 - 1
1-115256471-A-G c.240T>C p.C80= Synonymous 3/7 - 1
1-115256473-A-G c.238T>C p.C80R Missense 3/7 - 1
1-115256476-G-T c.235C>A p.L79I Missense 3/7 - 1
1-115256481-C-T c.230G>A p.G77D Missense 3/7 - 1
1-115256482-C-T c.229G>A p.G77S Missense 3/7 - 1
1-115256484-T-C c.227A>G p.E76G Missense 3/7 - 1
1-115256485-C-T c.226G>A p.E76K Missense 3/7 - 5
1-115256486-CGCCTGTCCTCA-C c.215_225del p.M72Rfs*11 Frameshift 3/7 - 1
1-115256487-C-A c.224G>T p.G75V Missense 3/7 - 1
1-115256489-T-C c.222A>G p.T74= Synonymous 3/7 - 1
1-115256490-G-A c.221C>T p.T74I Missense 3/7 - 2
1-115256490-G-C c.221C>G p.T74R Missense 3/7 - 1
1-115256491-T-C c.220A>G p.T74A Missense 3/7 - 2
1-115256495-CAT-ACA c.214_216delinsTGT p.M72C Missense 3/7 - 1
1-115256496-A-G c.215T>C p.M72T Missense 3/7 - 1
1-115256497-T-A c.214A>T p.M72L Missense 3/7 - 1
1-115256497-T-G c.214A>C p.M72L Missense 3/7 - 1
1-115256500-A-C c.211T>G p.Y71D Missense 3/7 - 1
1-115256501-T-A c.210A>T p.Q70H Missense 3/7 - 2
1-115256501-T-G c.210A>C p.Q70H Missense 3/7 - 1
1-115256501-TTGGTCTC-T c.203_209del p.R68Nfs*3 Frameshift 3/7 - 1
1-115256503-G-A c.208C>T p.Q70* Nonsense 3/7 - 1
1-115256504-G-A c.207C>T p.D69= Synonymous 3/7 - 1
1-115256504-G-C c.207C>G p.D69E Missense 3/7 - 1
1-115256504-G-T c.207C>A p.D69E Missense 3/7 - 1
1-115256505-T-C c.206A>G p.D69G Missense 3/7 - 1
1-115256506-C-A c.205G>T p.D69Y Missense 3/7 - 1
1-115256506-C-T c.205G>A p.D69N Missense 3/7 - 2
1-115256507-T-A c.204A>T p.R68S Missense 3/7 - 2
1-115256507-T-C c.204A>G p.R68= Synonymous 3/7 - 1
1-115256507-TC-CA c.203_204delinsTG p.R68M Missense 3/7 - 1
1-115256507-T-G c.204A>C p.R68S Missense 3/7 - 2
1-115256508-C-A c.203G>T p.R68I Missense 3/7 - 1
1-115256508-C-G c.203G>C p.R68T Missense 3/7 - 4
1-115256508-C-T c.203G>A p.R68K Missense 3/7 - 5
1-115256508-CT-TG c.202_203delinsCA p.R68Q Missense 3/7 - 1
1-115256509-T-C c.202A>G p.R68G Missense 3/7 - 1
1-115256510-C-T c.201G>A p.M67I Missense 3/7 - 1
1-115256511-A-G c.200T>C p.M67T Missense 3/7 - 2
1-115256513-G-A c.198C>T p.A66= Synonymous 3/7 - 1
1-115256513-G-C c.198C>G p.A66= Synonymous 3/7 - 1
1-115256513-GG-CT c.197_198delinsAG p.A66E Missense 3/7 - 1
1-115256513-G-T c.198C>A p.A66= Synonymous 3/7 - 1
1-115256514-G-A c.197C>T p.A66V Missense 3/7 - 1
1-115256514-GC-AA c.196_197delinsTT p.A66F Missense 3/7 - 1
1-115256515-C-G c.196G>C p.A66P Missense 3/7 - 2
1-115256515-C-T c.196G>A p.A66T Missense 3/7 - 2
1-115256517-C-T c.194G>A p.S65N Missense 3/7 - 2
1-115256518-T-A c.193A>T p.S65C Missense 3/7 - 2
1-115256518-T-C c.193A>G p.S65G Missense 3/7 - 1
1-115256520-T-C c.191A>G p.Y64C Missense 3/7 - 1
1-115256521-A-C c.190T>G p.Y64D Missense 3/7 - 10
1-115256521-A-T c.190T>A p.Y64N Missense 3/7 - 3
1-115256522-C-T c.189G>A p.E63= Synonymous 3/7 - 1
1-115256523-T-C c.188A>G p.E63G Missense 3/7 - 2
1-115256521-A-ACTCAGGTGCCCTACCATG c.189_190insCATGGTAGGGCACCTGAG p.E63_Y64insHGRAPE InFrameInsertion 3/7 - 1
1-115256524-C-A c.187G>T p.E63* Nonsense 3/7 - 1
1-115256524-C-T c.187G>A p.E63K Missense 3/7 - 27
1-115256525-T-C c.186A>G p.E62= Synonymous 3/7 - 2
1-115256525-TTC-CTTATG c.184_186delinsCATAAG p.E62delinsHK MultiAAMissense 3/7 - 1
1-115256527-C-A c.184G>T p.E62* Nonsense 3/7 - 2
1-115256527-C-G c.184G>C p.E62Q Missense 3/7 - 1
1-115256527-C-T c.184G>A p.E62K Missense 3/7 - 6
1-115256527-TC-T c.184del p.E62Kfs*6 Frameshift 3/7 - 1
1-115256528-T-A c.183A>T p.Q61H Missense 3/7 - 264
1-115256528-T-C c.183A>G p.Q61= Synonymous 3/7 - 8
1-115256528-T-G c.183A>C p.Q61H Missense 3/7 - 243
1-115256528-TT-CA c.182_183delinsTG p.Q61L Missense 3/7 - 1
1-115256528-TT-CC c.182_183delinsGG p.Q61R Missense 3/7 - 1
1-115256528-TTG-CCA c.181_183delinsTGG p.Q61W Missense 3/7 - 1
1-115256528-TTG-GTC c.181_183delinsGAC p.Q61D Missense 3/7 - 1
1-115256528-TTG-GTT c.181_183delinsAAC p.Q61N Missense 3/7 - 1
1-115256529-T-A c.182A>T p.Q61L Missense 3/7 - 476
1-115256529-T-C c.182A>G p.Q61R Missense 3/7 - 995
1-115256529-T-G c.182A>C p.Q61P Missense 3/7 - 41
1-115256529-TG-AC c.181_182delinsGT p.Q61V Missense 3/7 - 3
1-115256529-TG-AT c.181_182delinsAT p.Q61I Missense 3/7 - 1
1-115256529-TG-CT c.181_182delinsAG p.Q61R Missense 3/7 - 1
1-115256529-TG-GA c.181_182delinsTC p.Q61S Missense 3/7 - 1
1-115256529-TG-GC c.181_182delinsGC p.Q61A Missense 3/7 - 4
1-115256529-TG-GT c.181_182delinsAC p.Q61T Missense 3/7 - 1
1-115256530-G-A c.181C>T p.Q61* Nonsense 3/7 - 10
1-115256530-G-C c.181C>G p.Q61E Missense 3/7 - 27
1-115256530-G-T c.181C>A p.Q61K Missense 3/7 - 1093
1-115256531-T-A c.180A>T p.G60= Synonymous 3/7 - 2
1-115256531-TC-GT c.179_180delinsAC p.G60D Missense 3/7 - 1
1-115256532-C-A c.179G>T p.G60V Missense 3/7 - 6
1-115256532-C-T c.179G>A p.G60E Missense 3/7 - 38
1-115256533-C-G c.178G>C p.G60R Missense 3/7 - 8
1-115256533-C-T c.178G>A p.G60R Missense 3/7 - 12
1-115256532-CCAG-C c.176_178del p.A59del InFrameDeletion 3/7 - 1
1-115256534-AG-CT c.176_177inv p.A59E Missense 3/7 - 3
1-115256534-AGC-TTA c.175_177delinsTAA p.A59* Nonsense 3/7 - 2
1-115256535-G-A c.176C>T p.A59V Missense 3/7 - 2
1-115256535-G-C c.176C>G p.A59G Missense 3/7 - 6
1-115256535-GC-CA c.175_176delinsTG p.A59C Missense 3/7 - 1
1-115256535-G-T c.176C>A p.A59D Missense 3/7 - 13
1-115256534-AGCT-A c.174_176del p.A59del InFrameDeletion 3/7 - 1
1-115256536-C-A c.175G>T p.A59S Missense 3/7 - 1
1-115256536-C-T c.175G>A p.A59T Missense 3/7 - 41
1-115256538-G-A c.173C>T p.T58I Missense 3/7 - 11
1-115256538-G-C c.173C>G p.T58R Missense 3/7 - 1
1-115256539-T-C c.172A>G p.T58A Missense 3/7 - 4
1-115256540-A-C c.171T>G p.D57E Missense 3/7 - 2
1-115256540-A-T c.171T>A p.D57E Missense 3/7 - 2
1-115256541-T-A c.170A>T p.D57V Missense 3/7 - 1
1-115256541-T-G c.170A>C p.D57A Missense 3/7 - 1
1-115256542-C-G c.169G>C p.D57H Missense 3/7 - 1
1-115256542-C-T c.169G>A p.D57N Missense 3/7 - 2
1-115256545-G-A c.166C>T p.L56= Synonymous 3/7 - 1
1-115256547-A-G c.164T>C p.I55T Missense 3/7 - 1
1-115256550-T-C c.161A>G p.D54G Missense 3/7 - 1
1-115256551-C-A c.160G>T p.D54Y Missense 3/7 - 1
1-115256551-C-T c.160G>A p.D54N Missense 3/7 - 2
1-115256553-A-G c.158T>C p.L53S Missense 3/7 - 1
1-115256554-A-G c.157T>C p.L53= Synonymous 3/7 - 1
1-115256556-A-C c.155T>G p.L52W Missense 3/7 - 1
1-115256556-A-G c.155T>C p.L52S Missense 3/7 - 1
1-115256555-C-T c.156G>A p.L52= Synonymous 3/7 - 1
1-115256557-A-C c.154T>G p.L52V Missense 3/7 - 1
1-115256557-A-G c.154T>C p.L52= Synonymous 3/7 - 2
1-115256558-A-G c.153T>C p.C51= Synonymous 3/7 - 1
1-115256559-C-T c.152G>A p.C51Y Missense 3/7 - 1
1-115256562-G-A c.149C>T p.T50I Missense 3/7 - 22
1-115256563-T-C c.148A>G p.T50A Missense 3/7 - 1
1-115256563-T-G c.148A>C p.T50P Missense 3/7 - 1
1-115256564-T-G c.147A>C p.E49D Missense 3/7 - 1
1-115256565-T-G c.146A>C p.E49A Missense 3/7 - 1
1-115256566-C-A c.145G>T p.E49* Nonsense 3/7 - 1
1-115256566-C-T c.145G>A p.E49K Missense 3/7 - 4
1-115256567-ACC-TCA c.142_144delinsTGA p.G48* Nonsense 3/7 - 1
1-115256567-A-G c.144T>C p.G48= Synonymous 3/7 - 1
1-115256568-C-A c.143G>T p.G48V Missense 3/7 - 1
1-115256569-C-G c.142G>C p.G48R Missense 3/7 - 1
1-115256569-C-T c.142G>A p.G48S Missense 3/7 - 1
1-115256571-T-G c.140A>C p.D47A Missense 3/7 - 3
1-115256572-C-G c.139G>C p.D47H Missense 3/7 - 1
1-115256572-C-T c.139G>A p.D47N Missense 3/7 - 1
1-115256573-T-C c.138A>G p.I46M Missense 3/7 - 2
1-115256577-A-G c.134T>C p.V45A Missense 3/7 - 2
1-115256581-C-T c.130G>A p.V44M Missense 3/7 - 1
1-115256588-T-A c.123A>T p.R41S Missense 3/7 - 1
1-115256591-G-C c.120C>G p.Y40* Nonsense 3/7 - 1
1-115256591-G-T c.120C>A p.Y40* Nonsense 3/7 - 2
1-115256592-T-A c.119A>T p.Y40F Missense 3/7 - 1
1-115256592-TA-GC c.118_119delinsGC p.Y40A Missense 3/7 - 1
1-115256592-T-C c.119A>G p.Y40C Missense 3/7 - 3
1-115256592-T-G c.119A>C p.Y40S Missense 3/7 - 1
1-115256595-G-A c.116C>T p.S39F Missense 3/7 - 2
1-115256596-A-G c.115T>C p.S39P Missense 3/7 - 2
1-115256598-T-G c.113A>C p.D38A Missense 3/7 - 5
1-115256599-C-G c.112G>C p.D38H Missense 3/7 - 1
1-115256599-C-T c.112G>A p.D38N Missense 3/7 - 1
1-115256621-G-A c.112-22C>T - IntronicSNV - 2/6 1
1-115256618-A-AG c.112-20dup - IntronicInsertion - 2/6 1
1-115256632-G-A c.112-33C>T - IntronicSNV - 2/6 1
1-115256634-G-A c.112-35C>T - IntronicSNV - 2/6 1
1-115256634-G-C c.112-35C>G - IntronicSNV - 2/6 1
1-115256634-G-T c.112-35C>A - IntronicSNV - 2/6 1
1-115256635-G-A c.112-36C>T - IntronicSNV - 2/6 1
1-115256669-G-A c.112-70C>T - IntronicSNV - 2/6 1
1-115258648-A-G c.111+23T>C - IntronicSNV - 2/6 1
1-115258660-C-T c.111+11G>A - IntronicSNV - 2/6 1
1-115258663-G-A c.111+8C>T - IntronicSNV - 2/6 1
1-115258669-A-G c.111+2T>C - IntronicSNV - 2/6 2
1-115258672-T-C c.110A>G p.E37G Missense 2/7 - 5
1-115258672-T-G c.110A>C p.E37A Missense 2/7 - 1
1-115258673-C-A c.109G>T p.E37* Nonsense 2/7 - 1
1-115258673-C-T c.109G>A p.E37K Missense 2/7 - 1
1-115258675-A-C c.107T>G p.I36R Missense 2/7 - 1
1-115258676-T-C c.106A>G p.I36V Missense 2/7 - 1
1-115258677-G-A c.105C>T p.T35= Synonymous 2/7 - 1
1-115258677-G-C c.105C>G p.T35= Synonymous 2/7 - 1
1-115258677-G-T c.105C>A p.T35= Synonymous 2/7 - 1
1-115258678-G-A c.104C>T p.T35I Missense 2/7 - 1
1-115258678-G-C c.104C>G p.T35S Missense 2/7 - 4
1-115258679-T-A c.103A>T p.T35S Missense 2/7 - 4
1-115258679-T-C c.103A>G p.T35A Missense 2/7 - 1
1-115258681-G-A c.101C>T p.P34L Missense 2/7 - 3
1-115258681-GG-CC c.100_101inv p.P34G Missense 2/7 - 1
1-115258682-G-T c.100C>A p.P34T Missense 2/7 - 1
1-115258683-A-C c.99T>G p.D33E Missense 2/7 - 2
1-115258683-A-G c.99T>C p.D33= Synonymous 2/7 - 2
1-115258683-A-T c.99T>A p.D33E Missense 2/7 - 1
1-115258685-C-G c.97G>C p.D33H Missense 2/7 - 1
1-115258685-C-T c.97G>A p.D33N Missense 2/7 - 1
1-115258686-A-C c.96T>G p.Y32* Nonsense 2/7 - 1
1-115258686-A-G c.96T>C p.Y32= Synonymous 2/7 - 1
1-115258686-A-T c.96T>A p.Y32* Nonsense 2/7 - 1
1-115258687-T-C c.95A>G p.Y32C Missense 2/7 - 1
1-115258688-A-G c.94T>C p.Y32H Missense 2/7 - 1
1-115258689-T-A c.93A>T p.E31D Missense 2/7 - 1
1-115258689-T-C c.93A>G p.E31= Synonymous 2/7 - 1
1-115258689-T-G c.93A>C p.E31D Missense 2/7 - 1
1-115258690-T-A c.92A>T p.E31V Missense 2/7 - 1
1-115258690-T-G c.92A>C p.E31A Missense 2/7 - 1
1-115258691-C-T c.91G>A p.E31K Missense 2/7 - 1
1-115258696-A-G c.86T>C p.V29A Missense 2/7 - 1
1-115258697-C-A c.85G>T p.V29L Missense 2/7 - 1
1-115258698-AAA-CTC c.82_84delinsGAG p.F28E Missense 2/7 - 1
1-115258698-A-G c.84T>C p.F28= Synonymous 2/7 - 1
1-115258699-A-G c.83T>C p.F28S Missense 2/7 - 1
1-115258698-A-C c.84T>G p.F28L Missense 2/7 - 1
1-115258698-A-T c.84T>A p.F28L Missense 2/7 - 1
1-115258700-A-G c.82T>C p.F28L Missense 2/7 - 1
1-115258701-G-A c.81C>T p.H27= Synonymous 2/7 - 2
1-115258703-G-T c.79C>A p.H27N Missense 2/7 - 1
1-115258704-G-A c.78C>T p.N26= Synonymous 2/7 - 1
1-115258705-T-C c.77A>G p.N26S Missense 2/7 - 1
1-115258711-A-T c.71T>A p.I24N Missense 2/7 - 11
1-115258713-T-C c.69A>G p.L23= Synonymous 2/7 - 1
1-115258717-T-A c.65A>T p.Q22L Missense 2/7 - 1
1-115258718-G-A c.64C>T p.Q22* Nonsense 2/7 - 1
1-115258718-G-C c.64C>G p.Q22E Missense 2/7 - 1
1-115258718-G-T c.64C>A p.Q22K Missense 2/7 - 6
1-115258722-T-C c.60A>G p.T20= Synonymous 2/7 - 1
1-115258724-T-C c.58A>G p.T20A Missense 2/7 - 1
1-115258725-C-A c.57G>T p.L19= Synonymous 2/7 - 1
1-115258725-CAG-AAA c.55_57delinsTTT p.L19F Missense 2/7 - 1
1-115258725-C-G c.57G>C p.L19= Synonymous 2/7 - 1
1-115258725-C-T c.57G>A p.L19= Synonymous 2/7 - 1
1-115258727-G-A c.55C>T p.L19= Synonymous 2/7 - 1
1-115258726-A-G c.56T>C p.L19P Missense 2/7 - 1
1-115258728-T-A c.54A>T p.A18= Synonymous 2/7 - 1
1-115258728-T-C c.54A>G p.A18= Synonymous 2/7 - 1
1-115258728-T-G c.54A>C p.A18= Synonymous 2/7 - 1
1-115258728-TGC-AAA c.52_54delinsTTT p.A18F Missense 2/7 - 1
1-115258729-G-A c.53C>T p.A18V Missense 2/7 - 1
1-115258730-C-G c.52G>C p.A18P Missense 2/7 - 1
1-115258730-C-T c.52G>A p.A18T Missense 2/7 - 22
1-115258732-C-A c.50G>T p.S17I Missense 2/7 - 1
1-115258732-C-T c.50G>A p.S17N Missense 2/7 - 7
1-115258732-CT-GC c.49_50delinsGC p.S17A Missense 2/7 - 7
1-115258732-CT-TC c.49_50delinsGA p.S17D Missense 2/7 - 1
1-115258733-T-A c.49A>T p.S17C Missense 2/7 - 3
1-115258733-T-C c.49A>G p.S17G Missense 2/7 - 3
1-115258734-T-A c.48A>T p.K16N Missense 2/7 - 1
1-115258734-T-G c.48A>C p.K16N Missense 2/7 - 1
1-115258732-CT-C c.49del p.S17Afs*3 Frameshift 2/7 - 1
1-115258736-T-C c.46A>G p.K16E Missense 2/7 - 1
1-115258736-T-G c.46A>C p.K16Q Missense 2/7 - 1
1-115258737-CCC-GCT c.43_45delinsAGC p.G15S Missense 2/7 - 1
1-115258737-CC-GT c.44_45delinsAC p.G15D Missense 2/7 - 3
1-115258737-TCCCAAC-T c.40_45del p.V14_G15del InFrameDeletion 2/7 - 1
1-115258738-C-G c.44G>C p.G15A Missense 2/7 - 1
1-115258738-C-T c.44G>A p.G15E Missense 2/7 - 1
1-115258739-C-A c.43G>T p.G15W Missense 2/7 - 1
1-115258739-C-G c.43G>C p.G15R Missense 2/7 - 1
1-115258739-C-T c.43G>A p.G15R Missense 2/7 - 1
1-115258741-A-G c.41T>C p.V14A Missense 2/7 - 1
1-115258742-C-T c.40G>A p.V14I Missense 2/7 - 7
1-115258743-A-C c.39T>G p.G13= Synonymous 2/7 - 3
1-115258743-ACC-TCA c.37_39delinsTGA p.G13* Nonsense 2/7 - 4
1-115258743-A-G c.39T>C p.G13= Synonymous 2/7 - 5
1-115258743-A-T c.39T>A p.G13= Synonymous 2/7 - 3
1-115258744-C-A c.38G>T p.G13V Missense 2/7 - 109
1-115258744-CC-AG c.37_38delinsCT p.G13L Missense 2/7 - 1
1-115258744-CC-AT c.37_38delinsAT p.G13I Missense 2/7 - 1
1-115258744-CC-TA c.37_38delinsTA p.G13Y Missense 2/7 - 1
1-115258744-CC-TT c.37_38delinsAA p.G13N Missense 2/7 - 1
1-115258744-C-G c.38G>C p.G13A Missense 2/7 - 29
1-115258744-C-T c.38G>A p.G13D Missense 2/7 - 252
1-115258745-C-A c.37G>T p.G13C Missense 2/7 - 68
1-115258745-C-G c.37G>C p.G13R Missense 2/7 - 216
1-115258745-C-T c.37G>A p.G13S Missense 2/7 - 27
1-115258746-A-C c.36T>G p.G12= Synonymous 2/7 - 2
1-115258746-ACC-CCA c.34_36delinsTGG p.G12W Missense 2/7 - 1
1-115258746-ACC-GTCCCT c.34_36delinsAGGGAC p.G12delinsRD MultiAAMissense 2/7 - 1
1-115258746-AC-CT c.35_36delinsAG p.G12E Missense 2/7 - 3
1-115258746-ACC-TCA c.34_36delinsTGA p.G12* Nonsense 2/7 - 3
1-115258746-A-G c.36T>C p.G12= Synonymous 2/7 - 3
1-115258746-A-T c.36T>A p.G12= Synonymous 2/7 - 1
1-115258747-C-A c.35G>T p.G12V Missense 2/7 - 251
1-115258747-CC-AA c.34_35delinsTT p.G12F Missense 2/7 - 1
1-115258747-CC-AT c.34_35delinsAT p.G12I Missense 2/7 - 1
1-115258747-CC-GG c.34_35inv p.G12P Missense 2/7 - 3
1-115258747-CC-GT c.34_35delinsAC p.G12T Missense 2/7 - 1
1-115258747-CC-TT c.34_35delinsAA p.G12N Missense 2/7 - 8
1-115258747-C-G c.35G>C p.G12A Missense 2/7 - 102
1-115258747-C-T c.35G>A p.G12D Missense 2/7 - 580
1-115258748-C-A c.34G>T p.G12C Missense 2/7 - 172
1-115258748-C-G c.34G>C p.G12R Missense 2/7 - 80
1-115258748-C-T c.34G>A p.G12S Missense 2/7 - 186
1-115258749-T-A c.33A>T p.A11= Synonymous 2/7 - 1
1-115258749-T-C c.33A>G p.A11= Synonymous 2/7 - 1
1-115258749-T-G c.33A>C p.A11= Synonymous 2/7 - 1
1-115258750-G-A c.32C>T p.A11V Missense 2/7 - 4
1-115258750-G-T c.32C>A p.A11E Missense 2/7 - 1
1-115258751-C-T c.31G>A p.A11T Missense 2/7 - 5
1-115258752-TC-GT c.29_30delinsAC p.G10D Missense 2/7 - 2
1-115258753-C-T c.29G>A p.G10E Missense 2/7 - 4
1-115258754-C-A c.28G>T p.G10* Nonsense 2/7 - 1
1-115258754-C-G c.28G>C p.G10R Missense 2/7 - 1
1-115258754-C-T c.28G>A p.G10R Missense 2/7 - 1
1-115258763-C-T c.19G>A p.V7M Missense 2/7 - 1
1-115258764-C-A c.18G>T p.L6= Synonymous 2/7 - 1
1-115258764-C-G c.18G>C p.L6= Synonymous 2/7 - 1
1-115258764-C-T c.18G>A p.L6= Synonymous 2/7 - 1
1-115258766-G-A c.16C>T p.L6= Synonymous 2/7 - 1
1-115258765-CAGT-C c.15_17del p.L6del InFrameDeletion 2/7 - 1
1-115258766-G-C c.16C>G p.L6V Missense 2/7 - 1
1-115258771-T-A c.11A>T p.Y4F Missense 2/7 - 1
1-115258775-C-G c.7G>C p.E3Q Missense 2/7 - 1
1-115258776-A-C c.6T>G p.T2= Synonymous 2/7 - 4
1-115258776-A-G c.6T>C p.T2= Synonymous 2/7 - 4
1-115258776-A-T c.6T>A p.T2= Synonymous 2/7 - 4
1-115259311-T-A c.-50A>T - 5_prime_UTR_variant 1/7 - 1
1-115259311-T-C c.-50A>G - 5_prime_UTR_variant 1/7 - 1