NRAS

NRAS NRAS proto-oncogene, GTPase

Annotation transcript: NM_002524.5

1422 unique variant annotations were identified in 2199 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
1-115248048-A-G c.*2667T>C - 3_prime_UTR_variant 7/7 - 1
1-115248053-C-T c.*2662G>A - 3_prime_UTR_variant 7/7 - 1
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 - 9
1-115250028-T-C c.*687A>G - 3_prime_UTR_variant 7/7 - 1
1-115250132-A-C c.*583T>G - 3_prime_UTR_variant 7/7 - 1
1-115250132-A-G c.*583T>C - 3_prime_UTR_variant 7/7 - 1
1-115250299-T-A c.*416A>T - 3_prime_UTR_variant 7/7 - 2
1-115250299-T-G c.*416A>C - 3_prime_UTR_variant 7/7 - 2
1-115250369-C-G c.*346G>C - 3_prime_UTR_variant 7/7 - 1
1-115250369-C-T c.*346G>A - 3_prime_UTR_variant 7/7 - 1
1-115251017-G-A c.*4+135C>T - IntronicSNV - 5/6 1
1-115251093-C-T c.*43+20G>A - IntronicSNV - 6/6 1
1-115251157-T-C c.569A>G p.*190= Synonymous 5/7 - 1
1-115251158-A-T c.568T>A p.*190Kext*22 Missense 5/7 - 1
1-115251159-C-A c.567G>T p.M189I Missense 5/7 - 1
1-115251159-C-T c.567G>A p.M189I Missense 5/7 - 2
1-115251160-A-T c.566T>A p.M189K Missense 5/7 - 1
1-115251161-T-C c.565A>G p.M189V Missense 5/7 - 1
1-115251161-T-G c.565A>C p.M189L Missense 5/7 - 1
1-115251162-C-A c.564G>T p.V188= Synonymous 5/7 - 2
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
1-115251163-A-G c.563T>C p.V188A Missense 5/7 - 1
1-115251164-C-A c.562G>T p.V188L Missense 5/7 - 1
1-115251164-C-T c.562G>A p.V188M Missense 5/7 - 3
1-115251165-C-A c.561G>T p.V187= Synonymous 5/7 - 1
1-115251165-C-T c.561G>A p.V187= Synonymous 5/7 - 1
1-115251167-C-A c.559G>T p.V187L Missense 5/7 - 1
1-115251168-A-G c.558T>C p.C186= Synonymous 5/7 - 2
1-115251169-C-A c.557G>T p.C186F Missense 5/7 - 6
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 - 10
1-115251170-A-G c.556T>C p.C186R Missense 5/7 - 1
1-115251170-A-T c.556T>A p.C186S Missense 5/7 - 10
1-115251171-TGG-ACA c.553_555delinsTGT p.P185C Missense 5/7 - 1
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 - 14
1-115251173-G-C c.553C>G p.P185A Missense 5/7 - 1
1-115251174-C-A c.552G>T p.L184F Missense 5/7 - 1
1-115251174-C-T c.552G>A p.L184= Synonymous 5/7 - 1
1-115251175-AA-CT c.550_551delinsAG p.L184R Missense 5/7 - 1
1-115251175-A-C c.551T>G p.L184W Missense 5/7 - 1
1-115251177-T-C c.549A>G p.G183= Synonymous 5/7 - 1
1-115251177-TCC-GCT c.547_549delinsAGC p.G183S Missense 5/7 - 1
1-115251178-C-A c.548G>T p.G183V Missense 5/7 - 1
1-115251178-CC-GT c.547_548delinsAC p.G183T Missense 5/7 - 1
1-115251178-C-G c.548G>C p.G183A Missense 5/7 - 2
1-115251178-C-T c.548G>A p.G183E Missense 5/7 - 2
1-115251179-C-A c.547G>T p.G183* Nonsense 5/7 - 1
1-115251179-C-T c.547G>A p.G183R Missense 5/7 - 2
1-115251180-C-A c.546G>T p.M182I Missense 5/7 - 1
1-115251180-C-T c.546G>A p.M182I Missense 5/7 - 2
1-115251181-A-T c.545T>A p.M182K Missense 5/7 - 1
1-115251182-T-C c.544A>G p.M182V Missense 5/7 - 1
1-115251183-A-G c.543T>C p.C181= Synonymous 5/7 - 1
1-115251184-C-A c.542G>T p.C181F Missense 5/7 - 1
1-115251184-CA-GC c.541_542delinsGC p.C181A Missense 5/7 - 11
1-115251184-CA-GT c.541_542delinsAC p.C181T Missense 5/7 - 1
1-115251184-C-T c.542G>A p.C181Y Missense 5/7 - 1
1-115251184-C-G c.542G>C p.C181S Missense 5/7 - 13
1-115251185-A-G c.541T>C p.C181R Missense 5/7 - 1
1-115251185-A-T c.541T>A p.C181S Missense 5/7 - 13
1-115251186-ACC-TTG c.538_540delinsCAA p.G180Q Missense 5/7 - 1
1-115251187-C-A c.539G>T p.G180V Missense 5/7 - 3
1-115251187-C-T c.539G>A p.G180D Missense 5/7 - 3
1-115251188-C-A c.538G>T p.G180C Missense 5/7 - 3
1-115251188-C-G c.538G>C p.G180R Missense 5/7 - 1
1-115251188-C-T c.538G>A p.G180S Missense 5/7 - 1
1-115251189-C-A c.537G>T p.Q179H Missense 5/7 - 4
1-115251189-C-G c.537G>C p.Q179H Missense 5/7 - 2
1-115251189-C-T c.537G>A p.Q179= Synonymous 5/7 - 1
1-115251190-T-C c.536A>G p.Q179R Missense 5/7 - 3
1-115251191-G-A c.535C>T p.Q179* Nonsense 5/7 - 6
1-115251192-A-C c.534T>G p.T178= Synonymous 5/7 - 1
1-115251192-A-G c.534T>C p.T178= Synonymous 5/7 - 1
1-115251192-A-T c.534T>A p.T178= Synonymous 5/7 - 1
1-115251193-G-A c.533C>T p.T178I Missense 5/7 - 1
1-115251194-T-A c.532A>T p.T178S Missense 5/7 - 1
1-115251194-T-C c.532A>G p.T178A Missense 5/7 - 2
1-115251195-C-A c.531G>T p.G177= Synonymous 5/7 - 1
1-115251196-C-A c.530G>T p.G177V Missense 5/7 - 2
1-115251196-C-T c.530G>A p.G177E Missense 5/7 - 3
1-115251197-C-A c.529G>T p.G177W Missense 5/7 - 2
1-115251197-C-T c.529G>A p.G177R Missense 5/7 - 1
1-115251198-A-C c.528T>G p.D176E Missense 5/7 - 2
1-115251198-A-T c.528T>A p.D176E Missense 5/7 - 2
1-115251199-T-A c.527A>T p.D176V Missense 5/7 - 4
1-115251200-C-A c.526G>T p.D176Y Missense 5/7 - 2
1-115251200-C-T c.526G>A p.D176N Missense 5/7 - 4
1-115251201-A-C c.525T>G p.D175E Missense 5/7 - 1
1-115251201-A-T c.525T>A p.D175E Missense 5/7 - 1
1-115251202-T-C c.524A>G p.D175G Missense 5/7 - 3
1-115251203-C-A c.523G>T p.D175Y Missense 5/7 - 1
1-115251203-C-T c.523G>A p.D175N Missense 5/7 - 12
1-115251204-A-T c.522T>A p.S174R Missense 5/7 - 1
1-115251205-C-A c.521G>T p.S174I Missense 5/7 - 1
1-115251205-C-G c.521G>C p.S174T Missense 5/7 - 2
1-115251205-CT-AA c.520_521delinsTT p.S174F Missense 5/7 - 1
1-115251207-G-A c.519C>T p.S173= Synonymous 5/7 - 1
1-115251207-G-C c.519C>G p.S173R Missense 5/7 - 1
1-115251207-G-T c.519C>A p.S173R Missense 5/7 - 1
1-115251209-T-G c.517A>C p.S173R Missense 5/7 - 1
1-115251208-C-A c.518G>T p.S173I Missense 5/7 - 1
1-115251208-C-T c.518G>A p.S173N Missense 5/7 - 1
1-115251209-T-A c.517A>T p.S173C Missense 5/7 - 1
1-115251210-G-A c.516C>T p.N172= Synonymous 5/7 - 2
1-115251210-G-T c.516C>A p.N172K Missense 5/7 - 1
1-115251211-T-G c.515A>C p.N172T Missense 5/7 - 1
1-115251213-G-T c.513C>A p.L171= Synonymous 5/7 - 2
1-115251217-T-C c.509A>G p.K170R Missense 5/7 - 3
1-115251217-T-G c.509A>C p.K170T Missense 5/7 - 1
1-115251217-TT-GC c.508_509delinsGC p.K170A Missense 5/7 - 1
1-115251218-T-G c.508A>C p.K170Q Missense 5/7 - 1
1-115251219-T-A c.507A>T p.K169N Missense 5/7 - 1
1-115251219-T-G c.507A>C p.K169N Missense 5/7 - 1
1-115251220-T-C c.506A>G p.K169R Missense 5/7 - 1
1-115251221-T-C c.505A>G p.K169E Missense 5/7 - 2
1-115251221-T-TC c.504dup p.K169Efs*7 Frameshift 5/7 - 1
1-115251222-C-A c.504G>T p.M168I Missense 5/7 - 4
1-115251222-C-G c.504G>C p.M168I Missense 5/7 - 3
1-115251222-C-T c.504G>A p.M168I Missense 5/7 - 5
1-115251222-TC-T c.504del p.M168Ifs*21 Frameshift 5/7 - 1
1-115251223-A-T c.503T>A p.M168K 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 - 3
1-115251225-TCG-ACA c.499_501delinsTGT p.R167C Missense 5/7 - 1
1-115251226-C-A c.500G>T p.R167L Missense 5/7 - 3
1-115251226-CG-GT c.499_500delinsAC p.R167T Missense 5/7 - 1
1-115251226-C-T c.500G>A p.R167Q Missense 5/7 - 7
1-115251225-T-A c.501A>T p.R167= Synonymous 5/7 - 1
1-115251225-T-C c.501A>G p.R167= Synonymous 5/7 - 1
1-115251225-T-G c.501A>C p.R167= Synonymous 5/7 - 1
1-115251227-G-A c.499C>T p.R167* Nonsense 5/7 - 8
1-115251227-G-T c.499C>A p.R167= Synonymous 5/7 - 2
1-115251228-G-A c.498C>T p.Y166= Synonymous 5/7 - 2
1-115251228-G-T c.498C>A p.Y166* Nonsense 5/7 - 1
1-115251229-T-C c.497A>G p.Y166C Missense 5/7 - 2
1-115251230-A-T c.496T>A p.Y166N Missense 5/7 - 1
1-115251231-C-A c.495G>T p.Q165H Missense 5/7 - 5
1-115251231-C-G c.495G>C p.Q165H Missense 5/7 - 3
1-115251231-C-T c.495G>A p.Q165= Synonymous 5/7 - 2
1-115251232-T-C c.494A>G p.Q165R Missense 5/7 - 2
1-115251233-G-A c.493C>T p.Q165* Nonsense 5/7 - 1
1-115251233-G-C c.493C>G p.Q165E Missense 5/7 - 2
1-115251232-TG-T c.493del p.Q165Sfs*4 Frameshift 5/7 - 1
1-115251234-G-A c.492C>T p.R164= Synonymous 5/7 - 1
1-115251234-G-C c.492C>G p.R164= Synonymous 5/7 - 1
1-115251234-GC-TT c.491_492delinsAA p.R164Q Missense 5/7 - 2
1-115251234-G-T c.492C>A p.R164= Synonymous 5/7 - 1
1-115251235-C-A c.491G>T p.R164L Missense 5/7 - 1
1-115251235-C-T c.491G>A p.R164H Missense 5/7 - 5
1-115251236-G-A c.490C>T p.R164C Missense 5/7 - 14
1-115251236-G-T c.490C>A p.R164S Missense 5/7 - 1
1-115251237-TA-GT c.488_489delinsAC p.I163N Missense 5/7 - 1
1-115251237-T-C c.489A>G p.I163M Missense 5/7 - 2
1-115251238-A-G c.488T>C p.I163T Missense 5/7 - 1
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 - 7
1-115251243-TCT-CCA c.481_483delinsTGG p.R161W Missense 5/7 - 1
1-115251243-TCT-GTC c.481_483delinsGAC p.R161D Missense 5/7 - 1
1-115251244-C-A c.482G>T p.R161I Missense 5/7 - 1
1-115251244-C-T c.482G>A p.R161K Missense 5/7 - 1
1-115251244-CT-GC c.481_482delinsGC p.R161A Missense 5/7 - 2
1-115251244-CT-TG c.481_482delinsCA p.R161Q Missense 5/7 - 1
1-115251245-T-A c.481A>T p.R161* Nonsense 5/7 - 1
1-115251245-T-C c.481A>G p.R161G Missense 5/7 - 1
1-115251246-TAC-CAT c.478_480delinsATG p.V160M Missense 5/7 - 1
1-115251246-T-C c.480A>G p.V160= Synonymous 5/7 - 1
1-115251248-C-A c.478G>T p.V160L Missense 5/7 - 1
1-115251248-C-T c.478G>A p.V160I Missense 5/7 - 2
1-115251249-C-A c.477G>T p.L159= Synonymous 5/7 - 3
1-115251249-C-G c.477G>C p.L159= Synonymous 5/7 - 2
1-115251249-C-T c.477G>A p.L159= Synonymous 5/7 - 2
1-115251251-G-A c.475C>T p.L159= Synonymous 5/7 - 3
1-115251253-G-A c.473C>T p.T158I Missense 5/7 - 2
1-115251255-G-A c.471C>T p.Y157= Synonymous 5/7 - 1
1-115251256-T-A c.470A>T p.Y157F Missense 5/7 - 1
1-115251256-T-C c.470A>G p.Y157C Missense 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 - 4
1-115251258-A-T c.468T>A p.F156L Missense 5/7 - 4
1-115251260-A-G c.466T>C p.F156L Missense 5/7 - 4
1-115251256-T-TA c.469dup p.Y157Lfs*19 Frameshift 5/7 - 5
1-115251261-A-G c.465T>C p.A155= Synonymous 5/7 - 1
1-115251262-G-A c.464C>T p.A155V Missense 5/7 - 2
1-115251262-G-T c.464C>A p.A155D Missense 5/7 - 1
1-115251263-C-A c.463G>T p.A155S Missense 5/7 - 2
1-115251263-C-T c.463G>A p.A155T Missense 5/7 - 5
1-115251264-A-C c.462T>G p.D154E Missense 5/7 - 2
1-115251264-A-G c.462T>C p.D154= Synonymous 5/7 - 1
1-115251264-A-T c.462T>A p.D154E Missense 5/7 - 2
1-115251264-ATC-TTG c.460_462delinsCAA p.D154Q Missense 5/7 - 1
1-115251265-T-A c.461A>T p.D154V Missense 5/7 - 1
1-115251265-T-C c.461A>G p.D154G Missense 5/7 - 3
1-115251266-C-A c.460G>T p.D154Y Missense 5/7 - 2
1-115251266-C-G c.460G>C p.D154H Missense 5/7 - 2
1-115251266-C-T c.460G>A p.D154N Missense 5/7 - 3
1-115251264-ATCT-A c.459_461del p.E153del InFrameDeletion 5/7 - 1
1-115251267-T-A c.459A>T p.E153D Missense 5/7 - 1
1-115251267-T-G c.459A>C p.E153D Missense 5/7 - 1
1-115251266-C-CT c.459dup p.D154Rfs*22 Frameshift 5/7 - 1
1-115251268-T-A c.458A>T p.E153V Missense 5/7 - 2
1-115251268-T-C c.458A>G p.E153G Missense 5/7 - 1
1-115251268-T-G c.458A>C p.E153A Missense 5/7 - 4
1-115251269-C-A c.457G>T p.E153* Nonsense 5/7 - 2
1-115251269-C-G c.457G>C p.E153Q Missense 5/7 - 1
1-115251269-C-T c.457G>A p.E153K Missense 5/7 - 7
1-115251269-C-CA c.456dup p.E153* Nonsense 5/7 - 1
1-115251271-A-C c.455T>G p.V152G Missense 5/7 - 3
1-115251271-A-G c.455T>C p.V152A Missense 5/7 - 1
1-115251272-C-A c.454G>T p.V152F Missense 5/7 - 2
1-115251272-C-T c.454G>A p.V152I Missense 5/7 - 3
1-115251273-A-C c.453T>G p.G151= Synonymous 5/7 - 1
1-115251273-A-G c.453T>C p.G151= Synonymous 5/7 - 1
1-115251273-A-T c.453T>A p.G151= Synonymous 5/7 - 1
1-115251274-C-A c.452G>T p.G151V Missense 5/7 - 1
1-115251274-C-T c.452G>A p.G151D Missense 5/7 - 2
1-115251275-C-A c.451G>T p.G151C Missense 5/7 - 3
1-115251275-C-T c.451G>A p.G151S Missense 5/7 - 1
1-115251319-C-T c.451-44G>A - IntronicSNV - 4/6 2
1-115251475-G-A c.451-200C>T - IntronicSNV - 4/6 4
1-115251609-C-T c.451-334G>A - IntronicSNV - 4/6 1
1-115251624-T-C c.451-349A>G - IntronicSNV - 4/6 1
1-115251820-G-A c.450+370C>T - IntronicSNV - 4/6 1
1-115251820-G-C c.450+370C>G - IntronicSNV - 4/6 1
1-115251856-G-A c.450+334C>T - IntronicSNV - 4/6 1
1-115252086-G-GA c.450+103dup - IntronicInsertion - 4/6 1
1-115252094-T-A c.450+96A>T - IntronicSNV - 4/6 1
1-115252096-C-A c.450+94G>T - IntronicSNV - 4/6 1
1-115252104-C-A c.450+86G>T - IntronicSNV - 4/6 1
1-115252108-G-A c.450+82C>T - IntronicSNV - 4/6 1
1-115252109-A-T c.450+81T>A - IntronicSNV - 4/6 1
1-115252111-T-A c.450+79A>T - IntronicSNV - 4/6 1
1-115252121-G-A c.450+69C>T - IntronicSNV - 4/6 1
1-115252123-T-A c.450+67A>T - IntronicSNV - 4/6 1
1-115252172-C-A c.450+18G>T - IntronicSNV - 4/6 1
1-115252172-C-T c.450+18G>A - IntronicSNV - 4/6 1
1-115252181-G-A c.450+9C>T - IntronicSNV - 4/6 1
1-115252185-C-A c.450+5G>T - IntronicSNV - 4/6 1
1-115252189-C-A c.450+1G>T - IntronicSNV - 4/6 1
1-115252190-C-A c.450G>T p.Q150H Missense 4/7 - 1
1-115252191-T-C c.449A>G p.Q150R Missense 4/7 - 2
1-115252191-T-G c.449A>C p.Q150P Missense 4/7 - 1
1-115252192-G-A c.448C>T p.Q150* Nonsense 4/7 - 4
1-115252192-G-C c.448C>G p.Q150E Missense 4/7 - 1
1-115252192-G-T c.448C>A p.Q150K Missense 4/7 - 1
1-115252194-C-A c.446G>T p.R149I Missense 4/7 - 2
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
1-115252196-G-A c.444C>T p.T148= Synonymous 4/7 - 1
1-115252197-G-A c.443C>T p.T148I Missense 4/7 - 2
1-115252197-G-GC c.442_443insG p.T148Sfs*6 Frameshift 4/7 - 1
1-115252197-G-T c.443C>A p.T148N Missense 4/7 - 1
1-115252197-G-GTAGCATTTCT c.442_443insAGAAATGCTA p.T148Kfs*9 Frameshift 4/7 - 1
1-115252198-T-C c.442A>G p.T148A Missense 4/7 - 2
1-115252198-T-G c.442A>C p.T148P Missense 4/7 - 1
1-115252198-T-TC c.441dup p.T148Dfs*6 Frameshift 4/7 - 1
1-115252199-C-A c.441G>T p.K147N Missense 4/7 - 3
1-115252199-C-G c.441G>C p.K147N Missense 4/7 - 2
1-115252199-C-T c.441G>A p.K147= Synonymous 4/7 - 1
1-115252200-T-A c.440A>T p.K147M Missense 4/7 - 3
1-115252200-T-C c.440A>G p.K147R Missense 4/7 - 1
1-115252201-T-C c.439A>G p.K147E Missense 4/7 - 2
1-115252202-G-A c.438C>T p.A146= Synonymous 4/7 - 3
1-115252202-G-C c.438C>G p.A146= Synonymous 4/7 - 3
1-115252202-GG-CT c.437_438delinsAG p.A146E Missense 4/7 - 1
1-115252202-GGC-TTA c.436_438delinsTAA p.A146* Nonsense 4/7 - 2
1-115252202-G-T c.438C>A p.A146= Synonymous 4/7 - 3
1-115252203-G-A c.437C>T p.A146V Missense 4/7 - 49
1-115252203-G-C c.437C>G p.A146G Missense 4/7 - 2
1-115252203-G-T c.437C>A p.A146D Missense 4/7 - 3
1-115252204-C-A c.436G>T p.A146S Missense 4/7 - 5
1-115252204-C-G c.436G>C p.A146P Missense 4/7 - 22
1-115252204-C-T c.436G>A p.A146T Missense 4/7 - 117
1-115252205-T-A c.435A>T p.S145= Synonymous 4/7 - 1
1-115252205-T-C c.435A>G p.S145= Synonymous 4/7 - 3
1-115252205-T-G c.435A>C p.S145= Synonymous 4/7 - 1
1-115252205-TGA-GTT c.433_435delinsAAC p.S145N Missense 4/7 - 1
1-115252206-G-A c.434C>T p.S145L Missense 4/7 - 5
1-115252206-GA-AT c.433_434delinsAT p.S145I Missense 4/7 - 1
1-115252206-G-C c.434C>G p.S145* Nonsense 4/7 - 1
1-115252206-G-T c.434C>A p.S145* Nonsense 4/7 - 2
1-115252207-A-C c.433T>G p.S145A Missense 4/7 - 1
1-115252207-A-G c.433T>C p.S145P Missense 4/7 - 2
1-115252208-G-A c.432C>T p.T144= Synonymous 4/7 - 1
1-115252208-G-C c.432C>G p.T144= Synonymous 4/7 - 1
1-115252208-G-T c.432C>A p.T144= Synonymous 4/7 - 1
1-115252209-G-A c.431C>T p.T144I Missense 4/7 - 3
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 - 3
1-115252211-T-C c.429A>G p.E143= Synonymous 4/7 - 1
1-115252209-G-GT c.430dup p.T144Nfs*10 Frameshift 4/7 - 1
1-115252212-T-C c.428A>G p.E143G Missense 4/7 - 4
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 - 3
1-115252214-A-C c.426T>G p.I142M Missense 4/7 - 2
1-115252214-A-G c.426T>C p.I142= Synonymous 4/7 - 2
1-115252214-A-T c.426T>A p.I142= Synonymous 4/7 - 1
1-115252215-A-G c.425T>C p.I142T Missense 4/7 - 3
1-115252215-A-AT c.424dup p.I142Nfs*2 Frameshift 4/7 - 1
1-115252216-T-C c.424A>G p.I142V Missense 4/7 - 2
1-115252217-G-A c.423C>T p.F141= Synonymous 4/7 - 2
1-115252217-G-T c.423C>A p.F141L Missense 4/7 - 5
1-115252218-A-G c.422T>C p.F141S Missense 4/7 - 2
1-115252218-A-T c.422T>A p.F141Y Missense 4/7 - 1
1-115252217-G-C c.423C>G p.F141L Missense 4/7 - 3
1-115252219-A-G c.421T>C p.F141L Missense 4/7 - 3
1-115252220-T-A c.420A>T p.P140= Synonymous 4/7 - 2
1-115252220-T-C c.420A>G p.P140= Synonymous 4/7 - 3
1-115252220-T-G c.420A>C p.P140= Synonymous 4/7 - 2
1-115252221-G-A c.419C>T p.P140L Missense 4/7 - 3
1-115252222-G-A c.418C>T p.P140S Missense 4/7 - 3
1-115252223-A-G c.417T>C p.I139= Synonymous 4/7 - 1
1-115252223-A-T c.417T>A p.I139= Synonymous 4/7 - 1
1-115252224-A-G c.416T>C p.I139T Missense 4/7 - 6
1-115252225-T-C c.415A>G p.I139V Missense 4/7 - 1
1-115252225-T-G c.415A>C p.I139L Missense 4/7 - 2
1-115252226-C-A c.414G>T p.G138= Synonymous 4/7 - 2
1-115252226-C-G c.414G>C p.G138= Synonymous 4/7 - 1
1-115252226-C-T c.414G>A p.G138= Synonymous 4/7 - 1
1-115252226-TCCCGTA-T c.409_414del p.Y137_G138del InFrameDeletion 4/7 - 1
1-115252227-C-A c.413G>T p.G138V Missense 4/7 - 2
1-115252227-C-T c.413G>A p.G138E Missense 4/7 - 5
1-115252228-C-A c.412G>T p.G138W Missense 4/7 - 2
1-115252228-C-G c.412G>C p.G138R Missense 4/7 - 8
1-115252228-C-T c.412G>A p.G138R Missense 4/7 - 9
1-115252229-G-A c.411C>T p.Y137= Synonymous 4/7 - 4
1-115252229-G-T c.411C>A p.Y137* Nonsense 4/7 - 1
1-115252230-T-C c.410A>G p.Y137C Missense 4/7 - 3
1-115252230-T-G c.410A>C p.Y137S Missense 4/7 - 1
1-115252231-A-C c.409T>G p.Y137D Missense 4/7 - 1
1-115252231-A-G c.409T>C p.Y137H Missense 4/7 - 1
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 - 3
1-115252233-C-A c.407G>T p.S136I Missense 4/7 - 1
1-115252233-C-T c.407G>A p.S136N Missense 4/7 - 1
1-115252234-T-C c.406A>G p.S136G Missense 4/7 - 1
1-115252235-C-A c.405G>T p.K135N Missense 4/7 - 4
1-115252235-C-G c.405G>C p.K135N Missense 4/7 - 2
1-115252235-C-T c.405G>A p.K135= Synonymous 4/7 - 1
1-115252236-T-C c.404A>G p.K135R Missense 4/7 - 5
1-115252237-T-C c.403A>G p.K135E Missense 4/7 - 1
1-115252238-G-A c.402C>T p.A134= Synonymous 4/7 - 1
1-115252238-G-C c.402C>G p.A134= Synonymous 4/7 - 2
1-115252238-G-T c.402C>A p.A134= Synonymous 4/7 - 1
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 - 4
1-115252239-G-T c.401C>A p.A134D Missense 4/7 - 1
1-115252240-C-A c.400G>T p.A134S Missense 4/7 - 1
1-115252240-C-T c.400G>A p.A134T Missense 4/7 - 4
1-115252241-C-A c.399G>T p.L133= Synonymous 4/7 - 3
1-115252241-C-G c.399G>C p.L133= Synonymous 4/7 - 2
1-115252241-C-T c.399G>A p.L133= Synonymous 4/7 - 2
1-115252243-G-A c.397C>T p.L133= Synonymous 4/7 - 3
1-115252242-A-G c.398T>C p.L133P Missense 4/7 - 1
1-115252242-A-T c.398T>A p.L133Q Missense 4/7 - 1
1-115252244-T-C c.396A>G p.E132= Synonymous 4/7 - 2
1-115252245-T-C c.395A>G p.E132G Missense 4/7 - 3
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-A c.394G>T p.E132* Nonsense 4/7 - 3
1-115252246-C-G c.394G>C p.E132Q Missense 4/7 - 2
1-115252246-C-T c.394G>A p.E132K Missense 4/7 - 34
1-115252247-G-A c.393C>T p.H131= Synonymous 4/7 - 4
1-115252248-T-C c.392A>G p.H131R Missense 4/7 - 23
1-115252249-G-A c.391C>T p.H131Y Missense 4/7 - 2
1-115252249-G-T c.391C>A p.H131N Missense 4/7 - 2
1-115252250-G-A c.390C>T p.A130= Synonymous 4/7 - 2
1-115252250-G-C c.390C>G p.A130= Synonymous 4/7 - 2
1-115252250-G-T c.390C>A p.A130= Synonymous 4/7 - 2
1-115252251-G-A c.389C>T p.A130V Missense 4/7 - 3
1-115252251-G-T c.389C>A p.A130D Missense 4/7 - 2
1-115252252-C-A c.388G>T p.A130S Missense 4/7 - 1
1-115252252-C-T c.388G>A p.A130T Missense 4/7 - 3
1-115252253-T-C c.387A>G p.Q129= Synonymous 4/7 - 2
1-115252254-T-A c.386A>T p.Q129L Missense 4/7 - 2
1-115252254-T-C c.386A>G p.Q129R Missense 4/7 - 1
1-115252255-G-A c.385C>T p.Q129* Nonsense 4/7 - 3
1-115252255-G-C c.385C>G p.Q129E Missense 4/7 - 1
1-115252256-T-A c.384A>T p.K128N Missense 4/7 - 1
1-115252256-T-C c.384A>G p.K128= Synonymous 4/7 - 1
1-115252256-T-G c.384A>C p.K128N Missense 4/7 - 1
1-115252257-T-C c.383A>G p.K128R Missense 4/7 - 1
1-115252258-T-C c.382A>G p.K128E Missense 4/7 - 1
1-115252259-T-A c.381A>T p.T127= Synonymous 4/7 - 1
1-115252259-T-C c.381A>G p.T127= Synonymous 4/7 - 1
1-115252259-T-G c.381A>C p.T127= Synonymous 4/7 - 1
1-115252260-G-A c.380C>T p.T127I Missense 4/7 - 3
1-115252261-T-C c.379A>G p.T127A Missense 4/7 - 2
1-115252262-A-G c.378T>C p.D126= Synonymous 4/7 - 3
1-115252263-T-C c.377A>G p.D126G Missense 4/7 - 2
1-115252264-C-A c.376G>T p.D126Y Missense 4/7 - 1
1-115252264-C-T c.376G>A p.D126N Missense 4/7 - 6
1-115252265-A-C c.375T>G p.V125= Synonymous 4/7 - 2
1-115252265-A-G c.375T>C p.V125= Synonymous 4/7 - 2
1-115252265-A-T c.375T>A p.V125= Synonymous 4/7 - 2
1-115252266-A-G c.374T>C p.V125A Missense 4/7 - 2
1-115252267-C-A c.373G>T p.V125F Missense 4/7 - 1
1-115252267-C-G c.373G>C p.V125L Missense 4/7 - 1
1-115252267-C-T c.373G>A p.V125I Missense 4/7 - 1
1-115252268-T-A c.372A>T p.T124= Synonymous 4/7 - 3
1-115252268-T-C c.372A>G p.T124= Synonymous 4/7 - 2
1-115252268-T-G c.372A>C p.T124= Synonymous 4/7 - 2
1-115252268-TG-CA c.371_372inv p.T124M Missense 4/7 - 1
1-115252269-G-A c.371C>T p.T124I Missense 4/7 - 2
1-115252269-G-T c.371C>A p.T124K Missense 4/7 - 1
1-115252270-T-C c.370A>G p.T124A Missense 4/7 - 4
1-115252271-C-A c.369G>T p.R123S Missense 4/7 - 1
1-115252271-CCT-ATG c.367_369delinsCAT p.R123H Missense 4/7 - 2
1-115252271-C-T c.369G>A p.R123= Synonymous 4/7 - 1
1-115252273-T-G c.367A>C p.R123= Synonymous 4/7 - 1
1-115252272-C-A c.368G>T p.R123M Missense 4/7 - 2
1-115252272-C-T c.368G>A p.R123K Missense 4/7 - 2
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 - 3
1-115252274-T-A c.366A>T p.T122= Synonymous 4/7 - 1
1-115252274-T-C c.366A>G p.T122= Synonymous 4/7 - 1
1-115252274-T-G c.366A>C p.T122= Synonymous 4/7 - 2
1-115252274-TG-AT c.365_366delinsAT p.T122N Missense 4/7 - 1
1-115252275-G-A c.365C>T p.T122I Missense 4/7 - 1
1-115252275-G-C c.365C>G p.T122R Missense 4/7 - 1
1-115252275-G-T c.365C>A p.T122K Missense 4/7 - 1
1-115252276-T-A c.364A>T p.T122S Missense 4/7 - 1
1-115252276-T-C c.364A>G p.T122A Missense 4/7 - 4
1-115252277-T-A c.363A>T p.P121= Synonymous 4/7 - 2
1-115252277-T-C c.363A>G p.P121= Synonymous 4/7 - 2
1-115252277-T-G c.363A>C p.P121= Synonymous 4/7 - 2
1-115252278-G-A c.362C>T p.P121L Missense 4/7 - 1
1-115252279-G-A c.361C>T p.P121S Missense 4/7 - 2
1-115252280-C-A c.360G>T p.L120F Missense 4/7 - 1
1-115252280-C-G c.360G>C p.L120F Missense 4/7 - 1
1-115252281-A-C c.359T>G p.L120W Missense 4/7 - 1
1-115252281-A-G c.359T>C p.L120S Missense 4/7 - 1
1-115252280-C-T c.360G>A p.L120= Synonymous 4/7 - 8
1-115252282-A-C c.358T>G p.L120V Missense 4/7 - 1
1-115252282-A-G c.358T>C p.L120= Synonymous 4/7 - 6
1-115252283-A-C c.357T>G p.D119E Missense 4/7 - 1
1-115252283-A-G c.357T>C p.D119= Synonymous 4/7 - 1
1-115252283-A-T c.357T>A p.D119E Missense 4/7 - 1
1-115252284-T-C c.356A>G p.D119G Missense 4/7 - 4
1-115252285-C-A c.355G>T p.D119Y Missense 4/7 - 2
1-115252285-C-T c.355G>A p.D119N Missense 4/7 - 2
1-115252286-A-G c.354T>C p.C118= Synonymous 4/7 - 1
1-115252286-A-T c.354T>A p.C118* Nonsense 4/7 - 2
1-115252287-C-A c.353G>T p.C118F 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 - 6
1-115252287-C-G c.353G>C p.C118S Missense 4/7 - 12
1-115252288-A-G c.352T>C p.C118R Missense 4/7 - 1
1-115252288-A-T c.352T>A p.C118S Missense 4/7 - 12
1-115252289-C-A c.351G>T p.K117N Missense 4/7 - 36
1-115252289-C-G c.351G>C p.K117N Missense 4/7 - 38
1-115252289-C-T c.351G>A p.K117= Synonymous 4/7 - 3
1-115252290-T-A c.350A>T p.K117M Missense 4/7 - 1
1-115252290-T-C c.350A>G p.K117R Missense 4/7 - 11
1-115252290-T-G c.350A>C p.K117T Missense 4/7 - 3
1-115252291-T-A c.349A>T p.K117* Nonsense 4/7 - 1
1-115252291-T-C c.349A>G p.K117E Missense 4/7 - 6
1-115252291-T-G c.349A>C p.K117Q Missense 4/7 - 2
1-115252292-G-A c.348C>T p.N116= Synonymous 4/7 - 1
1-115252292-G-T c.348C>A p.N116K Missense 4/7 - 1
1-115252293-T-C c.347A>G p.N116S Missense 4/7 - 2
1-115252294-T-A c.346A>T p.N116Y Missense 4/7 - 2
1-115252294-T-C c.346A>G p.N116D Missense 4/7 - 1
1-115252294-T-G c.346A>C p.N116H Missense 4/7 - 1
1-115252292-G-GT c.347dup p.N116Kfs*4 Frameshift 4/7 - 1
1-115252295-T-A c.345A>T p.G115= Synonymous 4/7 - 1
1-115252295-T-C c.345A>G p.G115= Synonymous 4/7 - 1
1-115252295-TCC-GCT c.343_345delinsAGC p.G115S Missense 4/7 - 1
1-115252295-T-G c.345A>C p.G115= Synonymous 4/7 - 1
1-115252296-C-A c.344G>T p.G115V Missense 4/7 - 1
1-115252296-C-G c.344G>C p.G115A Missense 4/7 - 1
1-115252296-C-T c.344G>A p.G115E Missense 4/7 - 1
1-115252297-C-A c.343G>T p.G115* Nonsense 4/7 - 1
1-115252297-C-G c.343G>C p.G115R Missense 4/7 - 1
1-115252297-C-T c.343G>A p.G115R Missense 4/7 - 1
1-115252295-TC-T c.344del p.G115Efs*46 Frameshift 4/7 - 1
1-115252298-C-A c.342G>T p.V114= Synonymous 4/7 - 3
1-115252298-CA-GT c.341_342delinsAC p.V114D Missense 4/7 - 1
1-115252298-C-G c.342G>C p.V114= Synonymous 4/7 - 2
1-115252298-C-T c.342G>A p.V114= Synonymous 4/7 - 2
1-115252299-A-C c.341T>G p.V114G Missense 4/7 - 1
1-115252299-A-G c.341T>C p.V114A Missense 4/7 - 1
1-115252299-A-T c.341T>A p.V114E Missense 4/7 - 1
1-115252300-C-A c.340G>T p.V114L Missense 4/7 - 1
1-115252300-C-T c.340G>A p.V114M Missense 4/7 - 3
1-115252301-T-A c.339A>T p.L113= Synonymous 4/7 - 3
1-115252301-T-C c.339A>G p.L113= Synonymous 4/7 - 2
1-115252301-T-G c.339A>C p.L113= Synonymous 4/7 - 2
1-115252303-G-A c.337C>T p.L113= Synonymous 4/7 - 3
1-115252302-A-G c.338T>C p.L113P Missense 4/7 - 1
1-115252302-A-T c.338T>A p.L113Q Missense 4/7 - 1
1-115252303-G-T c.337C>A p.L113I Missense 4/7 - 1
1-115252304-C-A c.336G>T p.V112= Synonymous 4/7 - 2
1-115252304-C-G c.336G>C p.V112= Synonymous 4/7 - 1
1-115252304-C-T c.336G>A p.V112= Synonymous 4/7 - 1
1-115252305-A-G c.335T>C p.V112A Missense 4/7 - 1
1-115252306-C-T c.334G>A p.V112M Missense 4/7 - 5
1-115252307-C-A c.333G>T p.M111I Missense 4/7 - 3
1-115252307-C-G c.333G>C p.M111I Missense 4/7 - 2
1-115252307-C-T c.333G>A p.M111I Missense 4/7 - 2
1-115252308-A-G c.332T>C p.M111T Missense 4/7 - 1
1-115252308-A-T c.332T>A p.M111K Missense 4/7 - 2
1-115252309-T-A c.331A>T p.M111L Missense 4/7 - 1
1-115252309-T-C c.331A>G p.M111V Missense 4/7 - 10
1-115252310-A-C c.330T>G p.P110= Synonymous 4/7 - 1
1-115252310-A-G c.330T>C p.P110= Synonymous 4/7 - 2
1-115252310-AGG-TTA c.328_330delinsTAA p.P110* Nonsense 4/7 - 1
1-115252310-A-T c.330T>A p.P110= Synonymous 4/7 - 1
1-115252311-G-A c.329C>T p.P110L Missense 4/7 - 4
1-115252311-GG-CC c.328_329inv p.P110G Missense 4/7 - 2
1-115252311-GG-TA c.328_329delinsTA p.P110Y Missense 4/7 - 1
1-115252311-GG-TC c.328_329delinsGA p.P110D Missense 4/7 - 5
1-115252312-G-A c.328C>T p.P110S Missense 4/7 - 3
1-115252312-G-C c.328C>G p.P110A Missense 4/7 - 16
1-115252313-T-A c.327A>T p.V109= Synonymous 4/7 - 1
1-115252313-TAC-ACA c.325_327delinsTGT p.V109C Missense 4/7 - 1
1-115252313-T-C c.327A>G p.V109= Synonymous 4/7 - 1
1-115252313-T-G c.327A>C p.V109= Synonymous 4/7 - 1
1-115252314-A-C c.326T>G p.V109G Missense 4/7 - 2
1-115252314-A-G c.326T>C p.V109A Missense 4/7 - 1
1-115252314-A-T c.326T>A p.V109E Missense 4/7 - 1
1-115252315-C-A c.325G>T p.V109L Missense 4/7 - 3
1-115252315-C-G c.325G>C p.V109L Missense 4/7 - 2
1-115252315-C-T c.325G>A p.V109I Missense 4/7 - 3
1-115252316-A-G c.324T>C p.D108= Synonymous 4/7 - 1
1-115252317-T-C c.323A>G p.D108G Missense 4/7 - 2
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
1-115252318-C-A c.322G>T p.D108Y Missense 4/7 - 1
1-115252318-C-T c.322G>A p.D108N Missense 4/7 - 5
1-115252319-A-G c.321T>C p.D107= Synonymous 4/7 - 1
1-115252320-T-C c.320A>G p.D107G Missense 4/7 - 3
1-115252321-C-G c.319G>C p.D107H Missense 4/7 - 1
1-115252321-C-T c.319G>A p.D107N Missense 4/7 - 3
1-115252322-C-A c.318G>T p.S106= Synonymous 4/7 - 3
1-115252322-C-G c.318G>C p.S106= Synonymous 4/7 - 2
1-115252322-CGA-GTC c.316_318delinsGAC p.S106D Missense 4/7 - 1
1-115252322-C-T c.318G>A p.S106= Synonymous 4/7 - 3
1-115252323-G-A c.317C>T p.S106L Missense 4/7 - 14
1-115252323-G-T c.317C>A p.S106* Nonsense 4/7 - 1
1-115252324-A-C c.316T>G p.S106A Missense 4/7 - 1
1-115252324-A-G c.316T>C p.S106P Missense 4/7 - 2
1-115252324-A-T c.316T>A p.S106T Missense 4/7 - 1
1-115252325-G-A c.315C>T p.D105= Synonymous 4/7 - 1
1-115252325-G-T c.315C>A p.D105E Missense 4/7 - 1
1-115252326-T-C c.314A>G p.D105G Missense 4/7 - 1
1-115252327-C-A c.313G>T p.D105Y Missense 4/7 - 2
1-115252327-C-G c.313G>C p.D105H Missense 4/7 - 1
1-115252327-C-T c.313G>A p.D105N Missense 4/7 - 4
1-115252328-T-A c.312A>T p.K104N Missense 4/7 - 2
1-115252328-T-C c.312A>G p.K104= Synonymous 4/7 - 1
1-115252328-T-G c.312A>C p.K104N Missense 4/7 - 1
1-115252330-T-A c.310A>T p.K104* Nonsense 4/7 - 1
1-115252330-T-C c.310A>G p.K104E Missense 4/7 - 1
1-115252332-A-G c.308T>C p.V103A Missense 4/7 - 2
1-115252332-A-T c.308T>A p.V103E Missense 4/7 - 1
1-115252333-C-T c.307G>A p.V103I Missense 4/7 - 2
1-115252334-TCG-CCA c.304_306delinsTGG p.R102W Missense 4/7 - 1
1-115252335-C-A c.305G>T p.R102L Missense 4/7 - 2
1-115252335-C-G c.305G>C p.R102P Missense 4/7 - 1
1-115252335-C-T c.305G>A p.R102Q Missense 4/7 - 3
1-115252334-T-A c.306A>T p.R102= Synonymous 4/7 - 2
1-115252334-T-C c.306A>G p.R102= Synonymous 4/7 - 1
1-115252334-T-G c.306A>C p.R102= Synonymous 4/7 - 1
1-115252336-G-A c.304C>T p.R102* Nonsense 4/7 - 11
1-115252336-G-T c.304C>A p.R102= Synonymous 4/7 - 2
1-115252337-C-A c.303G>T p.K101N Missense 4/7 - 1
1-115252338-T-C c.302A>G p.K101R Missense 4/7 - 1
1-115252338-T-G c.302A>C p.K101T Missense 4/7 - 1
1-115252339-T-A c.301A>T p.K101* Nonsense 4/7 - 1
1-115252341-A-T c.299T>A p.I100N Missense 4/7 - 1
1-115252342-AT-A c.298del p.I100Lfs*4 Frameshift 4/7 - 1
1-115252342-T-A c.298A>T p.I100F Missense 4/7 - 1
1-115252343-C-A c.297G>T p.Q99H Missense 4/7 - 3
1-115252343-C-G c.297G>C p.Q99H Missense 4/7 - 2
1-115252343-C-T c.297G>A p.Q99= Synonymous 4/7 - 1
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 - 5
1-115252345-G-A c.295C>T p.Q99* Nonsense 4/7 - 4
1-115252345-G-T c.295C>A p.Q99K Missense 4/7 - 1
1-115252346-C-A c.294G>T p.E98D Missense 4/7 - 1
1-115252346-C-T c.294G>A p.E98= Synonymous 4/7 - 1
1-115252349-C-T c.291G>A p.R97= Synonymous 4/7 - 1
1-115252357-C-T c.291-8G>A - IntronicSNV - 3/6 1
1-115252358-G-A c.291-9C>T - IntronicSNV - 3/6 1
1-115252430-A-C c.291-81T>G - IntronicSNV - 3/6 1
1-115252609-G-A c.291-260C>T - IntronicSNV - 3/6 5
1-115252609-G-C c.291-260C>G - IntronicSNV - 3/6 5
1-115252609-G-T c.291-260C>A - IntronicSNV - 3/6 5
1-115252689-A-G c.291-340T>C - IntronicSNV - 3/6 1
1-115252726-C-A c.291-377G>T - IntronicSNV - 3/6 1
1-115252726-C-T c.291-377G>A - IntronicSNV - 3/6 1
1-115253148-A-G c.291-799T>C - IntronicSNV - 3/6 1
1-115253256-G-A c.291-907C>T - IntronicSNV - 3/6 1
1-115254022-C-T c.291-1673G>A - IntronicSNV - 3/6 2
1-115254027-C-A c.291-1678G>T - IntronicSNV - 3/6 1
1-115254027-C-T c.291-1678G>A - IntronicSNV - 3/6 1
1-115254028-G-A c.291-1679C>T - IntronicSNV - 3/6 3
1-115254028-G-T c.291-1679C>A - IntronicSNV - 3/6 3
1-115254407-G-A c.290+2014C>T - IntronicSNV - 3/6 1
1-115254407-G-T c.290+2014C>A - IntronicSNV - 3/6 1
1-115254528-A-G c.290+1893T>C - IntronicSNV - 3/6 1
1-115254575-A-C c.290+1846T>G - IntronicSNV - 3/6 1
1-115255282-T-C c.290+1139A>G - IntronicSNV - 3/6 1
1-115255717-T-C c.290+704A>G - IntronicSNV - 3/6 1
1-115256036-T-C c.290+385A>G - IntronicSNV - 3/6 1
1-115256049-C-T c.290+372G>A - IntronicSNV - 3/6 1
1-115256048-GCA-G c.290+371_290+372del - IntronicDeletion - 3/6 1
1-115256053-GAC-G c.290+366_290+367del - IntronicDeletion - 3/6 1
1-115256059-C-A c.290+362G>T - IntronicSNV - 3/6 1
1-115256064-T-C c.290+357A>G - IntronicSNV - 3/6 1
1-115256357-C-T c.290+64G>A - IntronicSNV - 3/6 1
1-115256362-C-T c.290+59G>A - IntronicSNV - 3/6 1
1-115256373-T-C c.290+48A>G - IntronicSNV - 3/6 1
1-115256414-C-T c.290+7G>A - IntronicSNV - 3/6 1
1-115256416-A-C c.290+5T>G - IntronicSNV - 3/6 1
1-115256420-C-A c.290+1G>T - IntronicSNV - 3/6 1
1-115256421-C-A c.290G>T p.R97M Missense 3/7 - 5
1-115256421-C-G c.290G>C p.R97T Missense 3/7 - 3
1-115256422-T-C c.289A>G p.R97G Missense 3/7 - 1
1-115256423-G-A c.288C>T p.Y96= Synonymous 3/7 - 2
1-115256424-T-C c.287A>G p.Y96C Missense 3/7 - 2
1-115256424-T-G c.287A>C p.Y96S Missense 3/7 - 1
1-115256425-A-T c.286T>A p.Y96N Missense 3/7 - 1
1-115256426-G-A c.285C>T p.L95= Synonymous 3/7 - 1
1-115256426-G-C c.285C>G p.L95= Synonymous 3/7 - 1
1-115256426-G-T c.285C>A p.L95= Synonymous 3/7 - 2
1-115256427-A-G c.284T>C p.L95P Missense 3/7 - 4
1-115256427-A-T c.284T>A p.L95H Missense 3/7 - 1
1-115256428-G-T c.283C>A p.L95I Missense 3/7 - 1
1-115256429-G-T c.282C>A p.N94K Missense 3/7 - 1
1-115256431-T-A c.280A>T p.N94Y Missense 3/7 - 1
1-115256433-A-G c.278T>C p.I93T Missense 3/7 - 1
1-115256437-C-A c.274G>T p.D92Y Missense 3/7 - 3
1-115256437-C-G c.274G>C p.D92H Missense 3/7 - 1
1-115256437-C-T c.274G>A p.D92N Missense 3/7 - 18
1-115256438-C-A c.273G>T p.A91= Synonymous 3/7 - 3
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 - 5
1-115256439-G-A c.272C>T p.A91V Missense 3/7 - 13
1-115256439-GC-TG c.271_272delinsCA p.A91Q Missense 3/7 - 1
1-115256439-GC-TT c.271_272delinsAA p.A91K Missense 3/7 - 1
1-115256440-C-A c.271G>T p.A91S Missense 3/7 - 1
1-115256441-A-G c.270T>C p.F90= Synonymous 3/7 - 1
1-115256442-A-T c.269T>A p.F90Y Missense 3/7 - 1
1-115256440-CA-C c.270del p.F90Lfs*14 Frameshift 3/7 - 3
1-115256441-A-C c.270T>G p.F90L Missense 3/7 - 1
1-115256441-A-T c.270T>A p.F90L Missense 3/7 - 2
1-115256443-A-G c.268T>C p.F90L Missense 3/7 - 1
1-115256445-G-A c.266C>T p.S89L Missense 3/7 - 2
1-115256445-G-C c.266C>G p.S89* Nonsense 3/7 - 1
1-115256445-G-T c.266C>A p.S89* Nonsense 3/7 - 3
1-115256446-A-C c.265T>G p.S89A Missense 3/7 - 4
1-115256446-A-T c.265T>A p.S89T Missense 3/7 - 2
1-115256447-C-A c.264G>T p.K88N Missense 3/7 - 1
1-115256447-C-T c.264G>A p.K88= Synonymous 3/7 - 1
1-115256448-T-A c.263A>T p.K88M Missense 3/7 - 1
1-115256449-T-C c.262A>G p.K88E Missense 3/7 - 1
1-115256451-C-A c.260G>T p.S87I Missense 3/7 - 3
1-115256451-C-T c.260G>A p.S87N Missense 3/7 - 9
1-115256451-CT-AG c.259_260inv p.S87L Missense 3/7 - 1
1-115256451-CT-GC c.259_260delinsGC p.S87A Missense 3/7 - 1
1-115256452-CT-C c.259del p.S87Afs*17 Frameshift 3/7 - 1
1-115256452-T-A c.259A>T p.S87C Missense 3/7 - 1
1-115256452-T-C c.259A>G p.S87G Missense 3/7 - 1
1-115256453-A-T c.258T>A p.N86K Missense 3/7 - 1
1-115256454-T-A c.257A>T p.N86I Missense 3/7 - 1
1-115256454-T-C c.257A>G p.N86S Missense 3/7 - 3
1-115256455-T-G c.256A>C p.N86H Missense 3/7 - 1
1-115256456-A-T c.255T>A p.N85K Missense 3/7 - 1
1-115256457-T-C c.254A>G p.N85S Missense 3/7 - 5
1-115256458-T-A c.253A>T p.N85Y Missense 3/7 - 1
1-115256458-T-C c.253A>G p.N85D Missense 3/7 - 2
1-115256458-T-G c.253A>C p.N85H Missense 3/7 - 1
1-115256459-G-A c.252C>T p.I84= Synonymous 3/7 - 1
1-115256459-G-C c.252C>G p.I84M Missense 3/7 - 2
1-115256459-G-T c.252C>A p.I84= Synonymous 3/7 - 1
1-115256460-A-G c.251T>C p.I84T Missense 3/7 - 1
1-115256461-T-C c.250A>G p.I84V Missense 3/7 - 6
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-GGC-CCA c.247_249delinsTGG p.A83W Missense 3/7 - 1
1-115256462-GGC-TTA c.247_249delinsTAA p.A83* Nonsense 3/7 - 1
1-115256462-G-T c.249C>A p.A83= Synonymous 3/7 - 3
1-115256461-TG-T c.249del p.I84Sfs*20 Frameshift 3/7 - 1
1-115256463-G-A c.248C>T p.A83V Missense 3/7 - 7
1-115256463-G-C c.248C>G p.A83G Missense 3/7 - 6
1-115256463-GC-CA c.247_248delinsTG p.A83C Missense 3/7 - 1
1-115256463-GC-TA c.247_248delinsTA p.A83Y Missense 3/7 - 1
1-115256463-G-T c.248C>A p.A83D Missense 3/7 - 1
1-115256464-C-A c.247G>T p.A83S Missense 3/7 - 2
1-115256464-C-G c.247G>C p.A83P Missense 3/7 - 2
1-115256464-C-T c.247G>A p.A83T Missense 3/7 - 4
1-115256464-GCA-G c.246_247del p.A83Hfs*3 Frameshift 3/7 - 1
1-115256465-A-C c.246T>G p.F82L Missense 3/7 - 1
1-115256465-A-T c.246T>A p.F82L Missense 3/7 - 1
1-115256466-A-C c.245T>G p.F82C Missense 3/7 - 3
1-115256466-A-G c.245T>C p.F82S Missense 3/7 - 1
1-115256464-C-CA c.246dup p.A83Cfs*4 Frameshift 3/7 - 1
1-115256467-A-T c.244T>A p.F82I Missense 3/7 - 1
1-115256468-T-A c.243A>T p.V81= Synonymous 3/7 - 1
1-115256468-T-C c.243A>G p.V81= Synonymous 3/7 - 1
1-115256468-T-G c.243A>C p.V81= Synonymous 3/7 - 1
1-115256469-A-C c.242T>G p.V81G Missense 3/7 - 1
1-115256469-A-G c.242T>C p.V81A Missense 3/7 - 1
1-115256470-C-A c.241G>T p.V81L Missense 3/7 - 1
1-115256470-C-T c.241G>A p.V81I Missense 3/7 - 1
1-115256471-A-C c.240T>G p.C80W Missense 3/7 - 1
1-115256471-A-G c.240T>C p.C80= Synonymous 3/7 - 1
1-115256472-C-A c.239G>T p.C80F Missense 3/7 - 2
1-115256472-C-T c.239G>A p.C80Y Missense 3/7 - 1
1-115256473-A-AAAAACCCTCACCTGTCCTCATATATTG c.237_238insCAATATATGAGGACAGGTGAGGGTTTT p.L79_C80insQYMRTGEGF InFrameInsertion 3/7 - 1
1-115256473-A-G c.238T>C p.C80R Missense 3/7 - 1
1-115256473-A-T c.238T>A p.C80S Missense 3/7 - 1
1-115256474-G-A c.237C>T p.L79= Synonymous 3/7 - 1
1-115256474-G-C c.237C>G p.L79= Synonymous 3/7 - 1
1-115256474-G-T c.237C>A p.L79= Synonymous 3/7 - 2
1-115256475-A-G c.236T>C p.L79P Missense 3/7 - 1
1-115256476-G-A c.235C>T p.L79F Missense 3/7 - 2
1-115256476-G-T c.235C>A p.L79I Missense 3/7 - 2
1-115256478-A-G c.233T>C p.F78S Missense 3/7 - 1
1-115256477-G-C c.234C>G p.F78L Missense 3/7 - 2
1-115256477-G-T c.234C>A p.F78L Missense 3/7 - 3
1-115256479-A-G c.232T>C p.F78L Missense 3/7 - 3
1-115256480-AG-A c.231del p.F78Sfs*26 Frameshift 3/7 - 1
1-115256480-G-C c.231C>G p.G77= Synonymous 3/7 - 1
1-115256481-C-A c.230G>T p.G77V Missense 3/7 - 1
1-115256481-C-T c.230G>A p.G77D Missense 3/7 - 2
1-115256482-C-A c.229G>T p.G77C Missense 3/7 - 1
1-115256482-C-T c.229G>A p.G77S Missense 3/7 - 2
1-115256483-T-A c.228A>T p.E76D Missense 3/7 - 1
1-115256483-T-C c.228A>G p.E76= Synonymous 3/7 - 2
1-115256483-T-G c.228A>C p.E76D Missense 3/7 - 1
1-115256484-T-C c.227A>G p.E76G Missense 3/7 - 2
1-115256484-T-G c.227A>C p.E76A Missense 3/7 - 1
1-115256485-C-A c.226G>T p.E76* Nonsense 3/7 - 2
1-115256485-C-G c.226G>C p.E76Q Missense 3/7 - 1
1-115256485-C-T c.226G>A p.E76K Missense 3/7 - 15
1-115256486-CGCCTGTCCTCA-C c.215_225del p.M72Rfs*11 Frameshift 3/7 - 1
1-115256486-G-A c.225C>T p.G75= Synonymous 3/7 - 8
1-115256486-G-C c.225C>G p.G75= Synonymous 3/7 - 3
1-115256486-GC-CT c.224_225delinsAG p.G75E Missense 3/7 - 1
1-115256486-G-T c.225C>A p.G75= Synonymous 3/7 - 3
1-115256487-C-A c.224G>T p.G75V Missense 3/7 - 2
1-115256486-G-GC c.224dup p.E76Rfs*11 Frameshift 3/7 - 1
1-115256488-C-A c.223G>T p.G75C Missense 3/7 - 2
1-115256488-C-T c.223G>A p.G75S Missense 3/7 - 2
1-115256489-T-A c.222A>T p.T74= Synonymous 3/7 - 1
1-115256489-T-C c.222A>G p.T74= Synonymous 3/7 - 2
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-A c.220A>T p.T74S Missense 3/7 - 8
1-115256491-T-C c.220A>G p.T74A Missense 3/7 - 4
1-115256491-T-G c.220A>C p.T74P Missense 3/7 - 1
1-115256492-C-A c.219G>T p.R73S Missense 3/7 - 1
1-115256492-C-T c.219G>A p.R73= Synonymous 3/7 - 1
1-115256494-T-G c.217A>C p.R73= Synonymous 3/7 - 1
1-115256491-TC-T c.219del p.T74Qfs*30 Frameshift 3/7 - 1
1-115256491-T-TC c.219dup p.T74Dfs*13 Frameshift 3/7 - 1
1-115256493-C-A c.218G>T p.R73M Missense 3/7 - 2
1-115256493-C-T c.218G>A p.R73K Missense 3/7 - 2
1-115256493-CT-TG c.217_218delinsCA p.R73Q Missense 3/7 - 1
1-115256494-T-A c.217A>T p.R73W Missense 3/7 - 1
1-115256494-T-C c.217A>G p.R73G Missense 3/7 - 3
1-115256495-C-A c.216G>T p.M72I Missense 3/7 - 10
1-115256495-CAT-ACA c.214_216delinsTGT p.M72C Missense 3/7 - 1
1-115256495-C-G c.216G>C p.M72I Missense 3/7 - 10
1-115256495-C-T c.216G>A p.M72I Missense 3/7 - 11
1-115256496-A-AC c.214_215insG p.M72Sfs*15 Frameshift 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-C c.214A>G p.M72V Missense 3/7 - 2
1-115256497-T-G c.214A>C p.M72L Missense 3/7 - 1
1-115256498-G-A c.213C>T p.Y71= Synonymous 3/7 - 1
1-115256499-T-C c.212A>G p.Y71C Missense 3/7 - 4
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-C c.210A>G p.Q70= Synonymous 3/7 - 2
1-115256501-T-G c.210A>C p.Q70H Missense 3/7 - 1
1-115256502-T-G c.209A>C p.Q70P Missense 3/7 - 1
1-115256503-G-A c.208C>T p.Q70* Nonsense 3/7 - 6
1-115256503-G-C c.208C>G p.Q70E Missense 3/7 - 1
1-115256503-G-T c.208C>A p.Q70K Missense 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 - 3
1-115256504-G-T c.207C>A p.D69E Missense 3/7 - 5
1-115256505-T-C c.206A>G p.D69G Missense 3/7 - 4
1-115256505-T-G c.206A>C p.D69A Missense 3/7 - 1
1-115256505-T-TC c.205dup p.D69Gfs*18 Frameshift 3/7 - 1
1-115256506-C-A c.205G>T p.D69Y Missense 3/7 - 4
1-115256506-C-G c.205G>C p.D69H Missense 3/7 - 2
1-115256506-C-T c.205G>A p.D69N Missense 3/7 - 5
1-115256507-T-A c.204A>T p.R68S Missense 3/7 - 4
1-115256507-T-C c.204A>G p.R68= Synonymous 3/7 - 5
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 - 4
1-115256509-T-G c.202A>C p.R68= Synonymous 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 - 21
1-115256508-C-T c.203G>A p.R68K Missense 3/7 - 7
1-115256508-CT-TG c.202_203delinsCA p.R68Q Missense 3/7 - 1
1-115256509-T-A c.202A>T p.R68* Nonsense 3/7 - 1
1-115256509-T-C c.202A>G p.R68G Missense 3/7 - 5
1-115256510-C-A c.201G>T p.M67I Missense 3/7 - 2
1-115256510-C-G c.201G>C p.M67I Missense 3/7 - 1
1-115256510-C-T c.201G>A p.M67I Missense 3/7 - 4
1-115256511-A-G c.200T>C p.M67T Missense 3/7 - 4
1-115256512-T-C c.199A>G p.M67V Missense 3/7 - 1
1-115256512-T-G c.199A>C p.M67L Missense 3/7 - 1
1-115256513-G-A c.198C>T p.A66= Synonymous 3/7 - 4
1-115256513-G-C c.198C>G p.A66= Synonymous 3/7 - 3
1-115256513-GGC-CTT c.196_198delinsAAG p.A66K Missense 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 - 3
1-115256512-TG-T c.198del p.M67* Frameshift 3/7 - 1
1-115256514-G-A c.197C>T p.A66V Missense 3/7 - 8
1-115256514-GC-AA c.196_197delinsTT p.A66F Missense 3/7 - 1
1-115256515-C-A c.196G>T p.A66S Missense 3/7 - 3
1-115256515-C-G c.196G>C p.A66P Missense 3/7 - 4
1-115256515-C-T c.196G>A p.A66T Missense 3/7 - 4
1-115256516-A-C c.195T>G p.S65R Missense 3/7 - 2
1-115256516-A-G c.195T>C p.S65= Synonymous 3/7 - 2
1-115256516-A-T c.195T>A p.S65R Missense 3/7 - 1
1-115256518-T-G c.193A>C p.S65R Missense 3/7 - 1
1-115256517-C-A c.194G>T p.S65I Missense 3/7 - 1
1-115256517-C-G c.194G>C p.S65T Missense 3/7 - 2
1-115256517-C-T c.194G>A p.S65N Missense 3/7 - 7
1-115256518-T-A c.193A>T p.S65C Missense 3/7 - 8
1-115256518-T-C c.193A>G p.S65G Missense 3/7 - 4
1-115256519-G-A c.192C>T p.Y64= Synonymous 3/7 - 3
1-115256519-G-T c.192C>A p.Y64* Nonsense 3/7 - 1
1-115256520-T-A c.191A>T p.Y64F Missense 3/7 - 1
1-115256520-T-C c.191A>G p.Y64C Missense 3/7 - 3
1-115256520-T-G c.191A>C p.Y64S Missense 3/7 - 1
1-115256520-T-TAGGCCAGGCCCGGCACTG c.190_191insCAGTGCCGGGCCTGGCCT p.E63_Y64insSVPGLA InFrameInsertion 3/7 - 1
1-115256521-A-C c.190T>G p.Y64D Missense 3/7 - 33
1-115256521-A-G c.190T>C p.Y64H Missense 3/7 - 3
1-115256521-A-T c.190T>A p.Y64N Missense 3/7 - 15
1-115256522-C-A c.189G>T p.E63D Missense 3/7 - 3
1-115256522-C-G c.189G>C p.E63D Missense 3/7 - 1
1-115256522-C-T c.189G>A p.E63= Synonymous 3/7 - 2
1-115256523-T-A c.188A>T p.E63V Missense 3/7 - 1
1-115256523-T-C c.188A>G p.E63G Missense 3/7 - 4
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 - 2
1-115256524-C-CGGAGGGA c.186_187insTCCCTCC p.E63Sfs*26 Frameshift 3/7 - 1
1-115256524-C-G c.187G>C p.E63Q Missense 3/7 - 2
1-115256524-C-T c.187G>A p.E63K Missense 3/7 - 36
1-115256525-T-C c.186A>G p.E62= Synonymous 3/7 - 3
1-115256525-TTC-CTTATG c.184_186delinsCATAAG p.E62delinsHK MultiAAMissense 3/7 - 1
1-115256525-TTC-GTCAAG c.184_186delinsCTTGAC p.E62delinsLD MultiAAMissense 3/7 - 1
1-115256526-T-C c.185A>G p.E62G Missense 3/7 - 2
1-115256526-T-TCC c.184_185insGG p.E62Gfs*7 Frameshift 3/7 - 1
1-115256527-C-A c.184G>T p.E62* Nonsense 3/7 - 3
1-115256527-C-G c.184G>C p.E62Q Missense 3/7 - 4
1-115256527-C-T c.184G>A p.E62K Missense 3/7 - 22
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 - 431
1-115256528-T-C c.183A>G p.Q61= Synonymous 3/7 - 25
1-115256528-T-G c.183A>C p.Q61H Missense 3/7 - 411
1-115256528-TT-CA c.182_183delinsTG p.Q61L Missense 3/7 - 2
1-115256528-TT-CC c.182_183delinsGG p.Q61R Missense 3/7 - 2
1-115256528-TTG-AAA c.181_183delinsTTT p.Q61F Missense 3/7 - 1
1-115256528-TTG-ACA c.181_183delinsTGT p.Q61C Missense 3/7 - 1
1-115256528-TTG-ATA c.181_183delinsTAT p.Q61Y Missense 3/7 - 1
1-115256528-TT-GC c.182_183delinsGC p.Q61R Missense 3/7 - 1
1-115256528-TTG-CAT c.181_183delinsATG p.Q61M 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
1-115256527-C-CT c.183dup p.E62Rfs*25 Frameshift 3/7 - 1
1-115256527-CT-C c.183del p.E62Kfs*6 Frameshift 3/7 - 1
1-115256527-CTTG-C c.181_183del p.Q61del InFrameDeletion 3/7 - 1
1-115256529-T-A c.182A>T p.Q61L Missense 3/7 - 682
1-115256529-T-C c.182A>G p.Q61R Missense 3/7 - 1253
1-115256529-T-G c.182A>C p.Q61P Missense 3/7 - 114
1-115256529-TG-AC c.181_182delinsGT p.Q61V Missense 3/7 - 7
1-115256529-TG-AT c.181_182delinsAT p.Q61I Missense 3/7 - 2
1-115256529-TG-CT c.181_182delinsAG p.Q61R Missense 3/7 - 2
1-115256529-TG-GA c.181_182delinsTC p.Q61S Missense 3/7 - 2
1-115256529-TG-GC c.181_182delinsGC p.Q61A Missense 3/7 - 6
1-115256529-TG-GT c.181_182delinsAC p.Q61T Missense 3/7 - 4
1-115256529-T-TGACCTGCTGTGTCAA c.181_182insTTGACACAGCAGGTC p.L56_G60dup InFrameInsertion 3/7 - 1
1-115256530-G-A c.181C>T p.Q61* Nonsense 3/7 - 45
1-115256530-G-C c.181C>G p.Q61E Missense 3/7 - 77
1-115256530-G-T c.181C>A p.Q61K Missense 3/7 - 1386
1-115256531-T-A c.180A>T p.G60= Synonymous 3/7 - 6
1-115256531-T-C c.180A>G p.G60= Synonymous 3/7 - 6
1-115256531-TC-GT c.179_180delinsAC p.G60D Missense 3/7 - 1
1-115256531-T-G c.180A>C p.G60= Synonymous 3/7 - 3
1-115256532-C-A c.179G>T p.G60V Missense 3/7 - 16
1-115256532-CC-AT c.178_179delinsAT p.G60I Missense 3/7 - 1
1-115256532-C-G c.179G>C p.G60A Missense 3/7 - 5
1-115256532-C-T c.179G>A p.G60E Missense 3/7 - 66
1-115256533-C-A c.178G>T p.G60* Nonsense 3/7 - 2
1-115256533-C-G c.178G>C p.G60R Missense 3/7 - 18
1-115256533-C-T c.178G>A p.G60R Missense 3/7 - 23
1-115256532-CCAG-C c.176_178del p.A59del InFrameDeletion 3/7 - 1
1-115256534-A-C c.177T>G p.A59= Synonymous 3/7 - 1
1-115256534-A-G c.177T>C p.A59= Synonymous 3/7 - 1
1-115256534-AGC-CTT c.175_177delinsAAG p.A59K Missense 3/7 - 2
1-115256534-AG-CT c.176_177inv p.A59E Missense 3/7 - 6
1-115256534-AGC-TTA c.175_177delinsTAA p.A59* Nonsense 3/7 - 3
1-115256534-A-T c.177T>A p.A59= Synonymous 3/7 - 3
1-115256534-CA-C c.177del p.G60Dfs*8 Frameshift 3/7 - 1
1-115256535-G-A c.176C>T p.A59V Missense 3/7 - 7
1-115256535-G-C c.176C>G p.A59G Missense 3/7 - 19
1-115256535-GC-AA c.175_176delinsTT p.A59F Missense 3/7 - 1
1-115256535-GC-CA c.175_176delinsTG p.A59C Missense 3/7 - 1
1-115256535-GC-CG c.175_176delinsCG p.A59R Missense 3/7 - 1
1-115256535-GC-TG c.175_176delinsCA p.A59H Missense 3/7 - 1
1-115256535-G-T c.176C>A p.A59D Missense 3/7 - 33
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 - 3
1-115256536-C-T c.175G>A p.A59T Missense 3/7 - 80
1-115256537-T-A c.174A>T p.T58= Synonymous 3/7 - 3
1-115256537-T-C c.174A>G p.T58= Synonymous 3/7 - 8
1-115256537-T-G c.174A>C p.T58= Synonymous 3/7 - 3
1-115256537-TG-GT c.173_174delinsAC p.T58N Missense 3/7 - 1
1-115256537-T-TG c.173dup p.A59Sfs*28 Frameshift 3/7 - 1
1-115256538-G-A c.173C>T p.T58I Missense 3/7 - 21
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 - 9
1-115256540-A-C c.171T>G p.D57E Missense 3/7 - 3
1-115256540-A-G c.171T>C p.D57= Synonymous 3/7 - 1
1-115256540-A-T c.171T>A p.D57E Missense 3/7 - 5
1-115256541-T-A c.170A>T p.D57V Missense 3/7 - 6
1-115256541-T-C c.170A>G p.D57G Missense 3/7 - 1
1-115256541-TCC-CA c.168_170delinsTG p.D57Vfs*11 Frameshift 3/7 - 1
1-115256541-T-G c.170A>C p.D57A Missense 3/7 - 8
1-115256542-C-A c.169G>T p.D57Y 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 - 7
1-115256543-C-A c.168G>T p.L56= Synonymous 3/7 - 2
1-115256543-C-G c.168G>C p.L56= Synonymous 3/7 - 1
1-115256543-C-T c.168G>A p.L56= Synonymous 3/7 - 1
1-115256545-G-A c.166C>T p.L56= Synonymous 3/7 - 3
1-115256544-A-G c.167T>C p.L56P Missense 3/7 - 1
1-115256544-A-T c.167T>A p.L56Q Missense 3/7 - 2
1-115256545-G-GA c.165_166insT p.L56Sfs*31 Frameshift 3/7 - 1
1-115256545-G-T c.166C>A p.L56M Missense 3/7 - 1
1-115256546-T-C c.165A>G p.I55M Missense 3/7 - 1
1-115256546-T-G c.165A>C p.I55= Synonymous 3/7 - 1
1-115256547-A-C c.164T>G p.I55R Missense 3/7 - 2
1-115256547-A-T c.164T>A p.I55K Missense 3/7 - 1
1-115256548-T-C c.163A>G p.I55V Missense 3/7 - 4
1-115256549-G-A c.162C>T p.D54= Synonymous 3/7 - 1
1-115256549-G-GT c.161dup p.D54Efs*33 Frameshift 3/7 - 1
1-115256550-T-C c.161A>G p.D54G Missense 3/7 - 3
1-115256551-C-A c.160G>T p.D54Y Missense 3/7 - 8
1-115256551-C-T c.160G>A p.D54N Missense 3/7 - 4
1-115256552-C-A c.159G>T p.L53F Missense 3/7 - 3
1-115256553-A-G c.158T>C p.L53S Missense 3/7 - 1
1-115256552-C-T c.159G>A p.L53= Synonymous 3/7 - 3
1-115256554-A-G c.157T>C p.L53= Synonymous 3/7 - 3
1-115256555-C-A c.156G>T p.L52F Missense 3/7 - 1
1-115256556-AA-CT c.154_155delinsAG p.L52R Missense 3/7 - 1
1-115256556-A-C c.155T>G p.L52W Missense 3/7 - 6
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 - 2
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 - 3
1-115256558-A-G c.153T>C p.C51= Synonymous 3/7 - 2
1-115256558-A-T c.153T>A p.C51* Nonsense 3/7 - 1
1-115256559-C-A c.152G>T p.C51F Missense 3/7 - 1
1-115256559-C-T c.152G>A p.C51Y Missense 3/7 - 3
1-115256560-A-G c.151T>C p.C51R Missense 3/7 - 3
1-115256560-A-T c.151T>A p.C51S Missense 3/7 - 1
1-115256561-G-A c.150C>T p.T50= Synonymous 3/7 - 2
1-115256561-G-C c.150C>G p.T50= Synonymous 3/7 - 1
1-115256561-G-T c.150C>A p.T50= Synonymous 3/7 - 1
1-115256562-G-A c.149C>T p.T50I Missense 3/7 - 47
1-115256562-G-C c.149C>G p.T50S Missense 3/7 - 2
1-115256562-G-T c.149C>A p.T50N Missense 3/7 - 2
1-115256562-GT-CA c.148_149delinsTG p.T50C Missense 3/7 - 1
1-115256563-T-A c.148A>T p.T50S Missense 3/7 - 2
1-115256563-T-C c.148A>G p.T50A Missense 3/7 - 3
1-115256563-T-G c.148A>C p.T50P Missense 3/7 - 2
1-115256564-T-C c.147A>G p.E49= Synonymous 3/7 - 1
1-115256564-T-G c.147A>C p.E49D Missense 3/7 - 1
1-115256562-G-GT c.148dup p.T50Nfs*37 Frameshift 3/7 - 1
1-115256565-T-C c.146A>G p.E49G Missense 3/7 - 1
1-115256565-T-G c.146A>C p.E49A Missense 3/7 - 2
1-115256566-C-A c.145G>T p.E49* Nonsense 3/7 - 2
1-115256566-C-G c.145G>C p.E49Q Missense 3/7 - 1
1-115256566-C-T c.145G>A p.E49K Missense 3/7 - 18
1-115256567-A-C c.144T>G p.G48= Synonymous 3/7 - 1
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 - 2
1-115256567-A-T c.144T>A p.G48= Synonymous 3/7 - 1
1-115256565-TCAC-T c.143_145del p.G48del InFrameDeletion 3/7 - 2
1-115256568-C-A c.143G>T p.G48V Missense 3/7 - 3
1-115256568-C-G c.143G>C p.G48A Missense 3/7 - 2
1-115256568-C-T c.143G>A p.G48D Missense 3/7 - 4
1-115256569-C-A c.142G>T p.G48C Missense 3/7 - 2
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 - 3
1-115256570-A-G c.141T>C p.D47= Synonymous 3/7 - 1
1-115256570-A-T c.141T>A p.D47E Missense 3/7 - 1
1-115256571-T-C c.140A>G p.D47G Missense 3/7 - 1
1-115256571-T-G c.140A>C p.D47A Missense 3/7 - 4
1-115256572-C-A c.139G>T p.D47Y Missense 3/7 - 2
1-115256572-C-G c.139G>C p.D47H Missense 3/7 - 2
1-115256572-C-T c.139G>A p.D47N Missense 3/7 - 2
1-115256573-TAT-AAA c.136_138delinsTTT p.I46F Missense 3/7 - 1
1-115256573-T-C c.138A>G p.I46M Missense 3/7 - 4
1-115256574-A-AT c.136dup p.I46Nfs*4 Frameshift 3/7 - 1
1-115256575-T-A c.136A>T p.I46L Missense 3/7 - 1
1-115256575-T-C c.136A>G p.I46V Missense 3/7 - 1
1-115256576-A-C c.135T>G p.V45= Synonymous 3/7 - 1
1-115256576-A-G c.135T>C p.V45= Synonymous 3/7 - 1
1-115256576-A-T c.135T>A p.V45= Synonymous 3/7 - 1
1-115256577-A-C c.134T>G p.V45G Missense 3/7 - 1
1-115256577-A-G c.134T>C p.V45A Missense 3/7 - 4
1-115256578-C-A c.133G>T p.V45F Missense 3/7 - 1
1-115256578-C-T c.133G>A p.V45I Missense 3/7 - 2
1-115256579-C-A c.132G>T p.V44= Synonymous 3/7 - 5
1-115256579-C-G c.132G>C p.V44= Synonymous 3/7 - 2
1-115256579-C-T c.132G>A p.V44= Synonymous 3/7 - 4
1-115256580-A-C c.131T>G p.V44G Missense 3/7 - 1
1-115256580-A-G c.131T>C p.V44A Missense 3/7 - 1
1-115256580-A-T c.131T>A p.V44E Missense 3/7 - 1
1-115256581-C-A c.130G>T p.V44L Missense 3/7 - 1
1-115256581-C-G c.130G>C p.V44L Missense 3/7 - 1
1-115256581-C-T c.130G>A p.V44M Missense 3/7 - 4
1-115256582-T-A c.129A>T p.Q43H Missense 3/7 - 3
1-115256582-T-C c.129A>G p.Q43= Synonymous 3/7 - 2
1-115256582-T-G c.129A>C p.Q43H Missense 3/7 - 4
1-115256583-T-C c.128A>G p.Q43R Missense 3/7 - 1
1-115256583-T-G c.128A>C p.Q43P Missense 3/7 - 2
1-115256583-T-TA c.127_128insT p.Q43Lfs*7 Frameshift 3/7 - 1
1-115256584-G-A c.127C>T p.Q43* Nonsense 3/7 - 3
1-115256584-G-T c.127C>A p.Q43K Missense 3/7 - 1
1-115256584-TG-T c.127del p.Q43Kfs*4 Frameshift 3/7 - 1
1-115256585-T-C c.126A>G p.K42= Synonymous 3/7 - 1
1-115256584-GTTT-G c.124_126del p.K42del InFrameDeletion 3/7 - 1
1-115256586-T-C c.125A>G p.K42R Missense 3/7 - 2
1-115256584-GTT-G c.125_126del p.K42Tfs*7 Frameshift 3/7 - 1
1-115256587-T-A c.124A>T p.K42* Nonsense 3/7 - 1
1-115256587-T-C c.124A>G p.K42E Missense 3/7 - 2
1-115256584-G-GT c.126dup p.Q43Tfs*7 Frameshift 3/7 - 1
1-115256584-GT-G c.126del p.K42Nfs*5 Frameshift 3/7 - 1
1-115256588-T-A c.123A>T p.R41S Missense 3/7 - 2
1-115256588-T-G c.123A>C p.R41S Missense 3/7 - 1
1-115256590-T-G c.121A>C p.R41= Synonymous 3/7 - 2
1-115256589-C-A c.122G>T p.R41I Missense 3/7 - 2
1-115256589-C-T c.122G>A p.R41K Missense 3/7 - 3
1-115256589-C-CT c.121dup p.R41Kfs*9 Frameshift 3/7 - 1
1-115256590-T-C c.121A>G p.R41G Missense 3/7 - 2
1-115256591-G-A c.120C>T p.Y40= Synonymous 3/7 - 1
1-115256591-G-C c.120C>G p.Y40* Nonsense 3/7 - 3
1-115256591-G-T c.120C>A p.Y40* Nonsense 3/7 - 5
1-115256592-T-A c.119A>T p.Y40F Missense 3/7 - 3
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 - 6
1-115256592-T-G c.119A>C p.Y40S Missense 3/7 - 1
1-115256594-A-C c.117T>G p.S39= Synonymous 3/7 - 1
1-115256594-A-G c.117T>C p.S39= Synonymous 3/7 - 1
1-115256594-A-T c.117T>A p.S39= Synonymous 3/7 - 1
1-115256595-G-A c.116C>T p.S39F Missense 3/7 - 5
1-115256595-GA-AG c.115_116delinsCT p.S39L Missense 3/7 - 1
1-115256595-G-T c.116C>A p.S39Y Missense 3/7 - 2
1-115256596-A-G c.115T>C p.S39P Missense 3/7 - 4
1-115256595-GA-G c.115del p.S39Lfs*8 Frameshift 3/7 - 1
1-115256597-A-C c.114T>G p.D38E Missense 3/7 - 1
1-115256597-A-G c.114T>C p.D38= Synonymous 3/7 - 1
1-115256597-A-T c.114T>A p.D38E Missense 3/7 - 1
1-115256598-T-A c.113A>T p.D38V Missense 3/7 - 1
1-115256598-T-G c.113A>C p.D38A Missense 3/7 - 7
1-115256599-C-A c.112G>T p.D38Y Missense 3/7 - 1
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 - 4
1-115256605-G-C c.112-6C>G - IntronicSNV - 2/6 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 12
1-115257363-A-G c.112-764T>C - IntronicSNV - 2/6 3
1-115257521-C-A c.112-922G>T - IntronicSNV - 2/6 1
1-115257521-C-T c.112-922G>A - IntronicSNV - 2/6 1
1-115257791-G-A c.111+880C>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 2
1-115258666-C-A c.111+5G>T - IntronicSNV - 2/6 1
1-115258666-C-T c.111+5G>A - IntronicSNV - 2/6 1
1-115258669-A-G c.111+2T>C - IntronicSNV - 2/6 3
1-115258670-C-A c.111+1G>T - IntronicSNV - 2/6 1
1-115258671-C-A c.111G>T p.E37D Missense 2/7 - 3
1-115258671-C-G c.111G>C p.E37D Missense 2/7 - 1
1-115258671-C-T c.111G>A p.E37= Synonymous 2/7 - 1
1-115258672-T-C c.110A>G p.E37G Missense 2/7 - 7
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 - 4
1-115258674-T-A c.108A>T p.I36= Synonymous 2/7 - 1
1-115258674-T-C c.108A>G p.I36M Missense 2/7 - 1
1-115258675-A-C c.107T>G p.I36R Missense 2/7 - 1
1-115258675-A-G c.107T>C p.I36T Missense 2/7 - 1
1-115258676-T-C c.106A>G p.I36V Missense 2/7 - 3
1-115258677-G-A c.105C>T p.T35= Synonymous 2/7 - 3
1-115258677-G-C c.105C>G p.T35= Synonymous 2/7 - 2
1-115258677-GG-CA c.104_105delinsTG p.T35M Missense 2/7 - 1
1-115258677-G-T c.105C>A p.T35= Synonymous 2/7 - 5
1-115258678-G-A c.104C>T p.T35I Missense 2/7 - 3
1-115258678-G-C c.104C>G p.T35S Missense 2/7 - 4
1-115258678-G-T c.104C>A p.T35N Missense 2/7 - 1
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 - 5
1-115258680-G-A c.102C>T p.P34= Synonymous 2/7 - 1
1-115258680-G-C c.102C>G p.P34= Synonymous 2/7 - 1
1-115258680-G-T c.102C>A p.P34= Synonymous 2/7 - 1
1-115258681-G-A c.101C>T p.P34L Missense 2/7 - 24
1-115258681-G-C c.101C>G p.P34R Missense 2/7 - 3
1-115258681-GG-CC c.100_101inv p.P34G Missense 2/7 - 2
1-115258681-GG-TT c.100_101delinsAA p.P34N Missense 2/7 - 1
1-115258681-G-T c.101C>A p.P34H Missense 2/7 - 3
1-115258679-TG-T c.102del p.T35Pfs*2 Frameshift 2/7 - 2
1-115258682-G-A c.100C>T p.P34S Missense 2/7 - 2
1-115258682-G-T c.100C>A p.P34T Missense 2/7 - 3
1-115258683-A-C c.99T>G p.D33E Missense 2/7 - 5
1-115258683-A-G c.99T>C p.D33= Synonymous 2/7 - 4
1-115258683-A-T c.99T>A p.D33E Missense 2/7 - 4
1-115258684-T-C c.98A>G p.D33G Missense 2/7 - 3
1-115258685-C-A c.97G>T p.D33Y Missense 2/7 - 2
1-115258685-C-G c.97G>C p.D33H Missense 2/7 - 8
1-115258685-C-T c.97G>A p.D33N Missense 2/7 - 5
1-115258686-A-C c.96T>G p.Y32* Nonsense 2/7 - 3
1-115258686-A-G c.96T>C p.Y32= Synonymous 2/7 - 2
1-115258686-A-T c.96T>A p.Y32* Nonsense 2/7 - 3
1-115258687-T-A c.95A>T p.Y32F Missense 2/7 - 1
1-115258687-TA-GG c.94_95delinsCC p.Y32P Missense 2/7 - 1
1-115258687-T-C c.95A>G p.Y32C Missense 2/7 - 3
1-115258688-A-C c.94T>G p.Y32D 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 - 4
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-C c.92A>G p.E31G Missense 2/7 - 2
1-115258690-T-G c.92A>C p.E31A Missense 2/7 - 1
1-115258691-C-A c.91G>T p.E31* Nonsense 2/7 - 4
1-115258691-C-G c.91G>C p.E31Q Missense 2/7 - 1
1-115258691-C-T c.91G>A p.E31K Missense 2/7 - 5
1-115258692-A-G c.90T>C p.D30= Synonymous 2/7 - 1
1-115258692-A-T c.90T>A p.D30E Missense 2/7 - 1
1-115258693-T-C c.89A>G p.D30G Missense 2/7 - 1
1-115258694-C-A c.88G>T p.D30Y Missense 2/7 - 2
1-115258694-C-T c.88G>A p.D30N Missense 2/7 - 3
1-115258695-TAC-CAT c.85_87delinsATG p.V29M Missense 2/7 - 1
1-115258695-T-C c.87A>G p.V29= Synonymous 2/7 - 4
1-115258696-A-G c.86T>C p.V29A Missense 2/7 - 2
1-115258697-C-A c.85G>T p.V29L Missense 2/7 - 4
1-115258697-C-G c.85G>C p.V29L Missense 2/7 - 2
1-115258697-C-T c.85G>A p.V29I Missense 2/7 - 2
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 - 2
1-115258699-A-G c.83T>C p.F28S Missense 2/7 - 3
1-115258698-A-C c.84T>G p.F28L Missense 2/7 - 3
1-115258698-A-T c.84T>A p.F28L Missense 2/7 - 2
1-115258700-A-G c.82T>C p.F28L Missense 2/7 - 2
1-115258701-G-A c.81C>T p.H27= Synonymous 2/7 - 3
1-115258702-T-C c.80A>G p.H27R Missense 2/7 - 1
1-115258703-G-A c.79C>T p.H27Y Missense 2/7 - 1
1-115258703-G-C c.79C>G p.H27D Missense 2/7 - 1
1-115258703-G-T c.79C>A p.H27N Missense 2/7 - 3
1-115258704-G-A c.78C>T p.N26= Synonymous 2/7 - 2
1-115258705-T-C c.77A>G p.N26S Missense 2/7 - 4
1-115258706-T-C c.76A>G p.N26D Missense 2/7 - 2
1-115258707-C-A c.75G>T p.Q25H Missense 2/7 - 2
1-115258707-C-T c.75G>A p.Q25= Synonymous 2/7 - 2
1-115258708-T-C c.74A>G p.Q25R Missense 2/7 - 1
1-115258709-G-A c.73C>T p.Q25* Nonsense 2/7 - 2
1-115258709-G-T c.73C>A p.Q25K Missense 2/7 - 1
1-115258710-G-A c.72C>T p.I24= Synonymous 2/7 - 1
1-115258710-G-T c.72C>A p.I24= Synonymous 2/7 - 3
1-115258711-A-G c.71T>C p.I24T Missense 2/7 - 1
1-115258711-A-T c.71T>A p.I24N Missense 2/7 - 18
1-115258712-T-C c.70A>G p.I24V Missense 2/7 - 1
1-115258712-T-G c.70A>C p.I24L Missense 2/7 - 2
1-115258713-T-A c.69A>T p.L23= Synonymous 2/7 - 2
1-115258713-TAG-AAA c.67_69delinsTTT p.L23F Missense 2/7 - 1
1-115258713-T-C c.69A>G p.L23= Synonymous 2/7 - 2
1-115258713-T-G c.69A>C p.L23= Synonymous 2/7 - 1
1-115258715-G-A c.67C>T p.L23= Synonymous 2/7 - 1
1-115258714-A-G c.68T>C p.L23P Missense 2/7 - 3
1-115258714-AG-GC c.67_68delinsGC p.L23A Missense 2/7 - 1
1-115258714-AG-TA c.67_68delinsTA p.L23* Nonsense 2/7 - 1
1-115258714-AGCT-A c.65_67del p.Q22del InFrameDeletion 2/7 - 1
1-115258716-C-A c.66G>T p.Q22H Missense 2/7 - 2
1-115258716-C-G c.66G>C p.Q22H Missense 2/7 - 1
1-115258716-C-T c.66G>A p.Q22= Synonymous 2/7 - 3
1-115258717-T-A c.65A>T p.Q22L Missense 2/7 - 2
1-115258717-T-C c.65A>G p.Q22R Missense 2/7 - 4
1-115258717-T-G c.65A>C p.Q22P Missense 2/7 - 1
1-115258717-TG-AC c.64_65delinsGT p.Q22V Missense 2/7 - 1
1-115258718-G-A c.64C>T p.Q22* Nonsense 2/7 - 3
1-115258718-G-C c.64C>G p.Q22E Missense 2/7 - 3
1-115258718-G-T c.64C>A p.Q22K Missense 2/7 - 23
1-115258719-G-A c.63C>T p.I21= Synonymous 2/7 - 1
1-115258719-G-C c.63C>G p.I21M Missense 2/7 - 2
1-115258719-G-T c.63C>A p.I21= Synonymous 2/7 - 2
1-115258720-A-G c.62T>C p.I21T Missense 2/7 - 4
1-115258720-A-T c.62T>A p.I21N Missense 2/7 - 1
1-115258721-T-C c.61A>G p.I21V Missense 2/7 - 2
1-115258720-AT-A c.61del p.I21Sfs*3 Frameshift 2/7 - 1
1-115258720-ATTG-A c.59_61del p.T20del InFrameDeletion 2/7 - 1
1-115258722-T-A c.60A>T p.T20= Synonymous 2/7 - 1
1-115258722-T-C c.60A>G p.T20= Synonymous 2/7 - 3
1-115258722-T-G c.60A>C p.T20= Synonymous 2/7 - 1
1-115258721-TTG-T c.59_60del p.T20Nfs*11 Frameshift 2/7 - 2
1-115258723-G-A c.59C>T p.T20I Missense 2/7 - 2
1-115258724-T-A c.58A>T p.T20S Missense 2/7 - 1
1-115258724-T-C c.58A>G p.T20A Missense 2/7 - 4
1-115258725-C-A c.57G>T p.L19= Synonymous 2/7 - 4
1-115258725-CAG-AAA c.55_57delinsTTT p.L19F Missense 2/7 - 5
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 - 2
1-115258727-G-A c.55C>T p.L19= Synonymous 2/7 - 5
1-115258726-A-G c.56T>C p.L19P Missense 2/7 - 3
1-115258726-A-T c.56T>A p.L19Q Missense 2/7 - 1
1-115258728-T-A c.54A>T p.A18= Synonymous 2/7 - 2
1-115258728-T-C c.54A>G p.A18= Synonymous 2/7 - 2
1-115258728-T-G c.54A>C p.A18= Synonymous 2/7 - 5
1-115258728-TGC-AAA c.52_54delinsTTT p.A18F Missense 2/7 - 6
1-115258728-TGC-ATA c.52_54delinsTAT p.A18Y Missense 2/7 - 2
1-115258728-TGC-ATG c.52_54delinsCAT p.A18H Missense 2/7 - 1
1-115258728-TGC-CAT c.52_54delinsATG p.A18M Missense 2/7 - 1
1-115258728-TGC-GTT c.52_54delinsAAC p.A18N Missense 2/7 - 1
1-115258729-G-A c.53C>T p.A18V Missense 2/7 - 7
1-115258729-G-C c.53C>G p.A18G Missense 2/7 - 1
1-115258729-GC-AT c.52_53delinsAT p.A18I Missense 2/7 - 1
1-115258729-GC-CT c.52_53delinsAG p.A18R Missense 2/7 - 1
1-115258729-GC-TG c.52_53delinsCA p.A18Q Missense 2/7 - 2
1-115258729-GC-TT c.52_53delinsAA p.A18K Missense 2/7 - 1
1-115258730-C-A c.52G>T p.A18S Missense 2/7 - 3
1-115258730-C-G c.52G>C p.A18P Missense 2/7 - 8
1-115258730-C-T c.52G>A p.A18T Missense 2/7 - 56
1-115258731-CGCT-C c.49_51del p.S17del InFrameDeletion 2/7 - 1
1-115258731-G-A c.51C>T p.S17= Synonymous 2/7 - 3
1-115258731-G-C c.51C>G p.S17R Missense 2/7 - 1
1-115258731-G-T c.51C>A p.S17R Missense 2/7 - 2
1-115258733-T-G c.49A>C p.S17R Missense 2/7 - 1
1-115258732-C-A c.50G>T p.S17I Missense 2/7 - 3
1-115258732-C-G c.50G>C p.S17T Missense 2/7 - 1
1-115258732-C-T c.50G>A p.S17N Missense 2/7 - 16
1-115258732-CT-AG c.49_50inv p.S17L Missense 2/7 - 1
1-115258732-CT-GC c.49_50delinsGC p.S17A Missense 2/7 - 8
1-115258732-CT-TC c.49_50delinsGA p.S17D Missense 2/7 - 2
1-115258733-T-A c.49A>T p.S17C Missense 2/7 - 4
1-115258733-T-C c.49A>G p.S17G Missense 2/7 - 9
1-115258734-T-A c.48A>T p.K16N Missense 2/7 - 4
1-115258734-T-C c.48A>G p.K16= Synonymous 2/7 - 1
1-115258734-T-G c.48A>C p.K16N Missense 2/7 - 4
1-115258735-T-C c.47A>G p.K16R Missense 2/7 - 1
1-115258735-TT-GC c.46_47delinsGC p.K16A Missense 2/7 - 1
1-115258732-CT-C c.49del p.S17Afs*3 Frameshift 2/7 - 2
1-115258736-T-C c.46A>G p.K16E Missense 2/7 - 3
1-115258736-T-G c.46A>C p.K16Q Missense 2/7 - 1
1-115258737-C-A c.45G>T p.G15= Synonymous 2/7 - 2
1-115258737-CCC-GCT c.43_45delinsAGC p.G15S Missense 2/7 - 2
1-115258737-CC-GT c.44_45delinsAC p.G15D Missense 2/7 - 4
1-115258737-C-G c.45G>C p.G15= Synonymous 2/7 - 2
1-115258737-C-T c.45G>A p.G15= Synonymous 2/7 - 2
1-115258737-TCCCAAC-T c.40_45del p.V14_G15del InFrameDeletion 2/7 - 1
1-115258738-C-A c.44G>T p.G15V Missense 2/7 - 1
1-115258738-C-G c.44G>C p.G15A Missense 2/7 - 4
1-115258738-C-T c.44G>A p.G15E Missense 2/7 - 5
1-115258739-C-A c.43G>T p.G15W Missense 2/7 - 2
1-115258739-C-G c.43G>C p.G15R Missense 2/7 - 3
1-115258739-C-T c.43G>A p.G15R Missense 2/7 - 4
1-115258740-AAC-CAT c.40_42delinsATG p.V14M Missense 2/7 - 1
1-115258740-A-C c.42T>G p.V14= Synonymous 2/7 - 1
1-115258740-A-G c.42T>C p.V14= Synonymous 2/7 - 1
1-115258740-A-T c.42T>A p.V14= Synonymous 2/7 - 2
1-115258737-CCCAACA-C c.39_44del p.V14_G15del InFrameDeletion 2/7 - 1
1-115258741-A-C c.41T>G p.V14G Missense 2/7 - 4
1-115258741-A-G c.41T>C p.V14A Missense 2/7 - 5
1-115258742-C-A c.40G>T p.V14F Missense 2/7 - 1
1-115258742-C-T c.40G>A p.V14I Missense 2/7 - 12
1-115258743-A-C c.39T>G p.G13= Synonymous 2/7 - 7
1-115258743-AC-CT c.38_39delinsAG p.G13E Missense 2/7 - 2
1-115258743-ACC-TCA c.37_39delinsTGA p.G13* Nonsense 2/7 - 8
1-115258743-A-G c.39T>C p.G13= Synonymous 2/7 - 10
1-115258743-A-T c.39T>A p.G13= Synonymous 2/7 - 7
1-115258744-C-A c.38G>T p.G13V Missense 2/7 - 201
1-115258744-CC-AA c.37_38delinsTT p.G13F Missense 2/7 - 1
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 - 9
1-115258744-CC-TT c.37_38delinsAA p.G13N Missense 2/7 - 9
1-115258744-C-G c.38G>C p.G13A Missense 2/7 - 71
1-115258744-C-T c.38G>A p.G13D Missense 2/7 - 430
1-115258745-C-A c.37G>T p.G13C Missense 2/7 - 150
1-115258745-C-G c.37G>C p.G13R Missense 2/7 - 364
1-115258745-C-T c.37G>A p.G13S Missense 2/7 - 64
1-115258741-ACAC-A c.38_40del p.G13del InFrameDeletion 2/7 - 1
1-115258746-A-C c.36T>G p.G12= Synonymous 2/7 - 7
1-115258746-ACC-CAT c.34_36delinsATG p.G12M Missense 2/7 - 1
1-115258746-ACC-CCA c.34_36delinsTGG p.G12W Missense 2/7 - 5
1-115258746-ACC-CTT c.34_36delinsAAG p.G12K 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 - 9
1-115258746-ACC-TCA c.34_36delinsTGA p.G12* Nonsense 2/7 - 6
1-115258746-ACC-TTG c.34_36delinsCAA p.G12Q Missense 2/7 - 1
1-115258746-A-G c.36T>C p.G12= Synonymous 2/7 - 7
1-115258746-A-T c.36T>A p.G12= Synonymous 2/7 - 5
1-115258747-ACC-A c.34_35del p.G12Wfs*19 Frameshift 2/7 - 1
1-115258747-C-A c.35G>T p.G12V Missense 2/7 - 387
1-115258747-CC-AA c.34_35delinsTT p.G12F Missense 2/7 - 7
1-115258747-CC-AG c.34_35delinsCT p.G12L Missense 2/7 - 3
1-115258747-CC-AT c.34_35delinsAT p.G12I Missense 2/7 - 3
1-115258747-CC-GG c.34_35inv p.G12P Missense 2/7 - 11
1-115258747-CC-GT c.34_35delinsAC p.G12T Missense 2/7 - 5
1-115258747-CC-TA c.34_35delinsTA p.G12Y Missense 2/7 - 8
1-115258747-CC-TG c.34_35delinsCA p.G12H Missense 2/7 - 1
1-115258747-CC-TT c.34_35delinsAA p.G12N Missense 2/7 - 18
1-115258747-C-G c.35G>C p.G12A Missense 2/7 - 235
1-115258747-C-T c.35G>A p.G12D Missense 2/7 - 817
1-115258746-A-AC c.35dup p.G13Wfs*19 Frameshift 2/7 - 1
1-115258748-C-A c.34G>T p.G12C Missense 2/7 - 316
1-115258748-C-G c.34G>C p.G12R Missense 2/7 - 180
1-115258748-C-T c.34G>A p.G12S Missense 2/7 - 347
1-115258749-T-A c.33A>T p.A11= Synonymous 2/7 - 7
1-115258749-T-C c.33A>G p.A11= Synonymous 2/7 - 6
1-115258749-T-G c.33A>C p.A11= Synonymous 2/7 - 6
1-115258749-TGC-AAA c.31_33delinsTTT p.A11F Missense 2/7 - 1
1-115258749-TGC-ACA c.31_33delinsTGT p.A11C Missense 2/7 - 2
1-115258749-TGC-ATA c.31_33delinsTAT p.A11Y Missense 2/7 - 1
1-115258749-TGC-CAT c.31_33delinsATG p.A11M Missense 2/7 - 1
1-115258749-TGC-GTT c.31_33delinsAAC p.A11N Missense 2/7 - 3
1-115258749-TG-GT c.32_33delinsAC p.A11D Missense 2/7 - 1
1-115258750-G-A c.32C>T p.A11V Missense 2/7 - 7
1-115258750-G-C c.32C>G p.A11G Missense 2/7 - 1
1-115258750-GC-CT c.31_32delinsAG p.A11R Missense 2/7 - 1
1-115258750-GC-TA c.31_32delinsTA p.A11* Nonsense 2/7 - 1
1-115258750-G-T c.32C>A p.A11E Missense 2/7 - 4
1-115258751-C-A c.31G>T p.A11S Missense 2/7 - 1
1-115258751-C-T c.31G>A p.A11T Missense 2/7 - 13
1-115258752-TCC-ACA c.28_30delinsTGT p.G10C Missense 2/7 - 2
1-115258752-TC-GT c.29_30delinsAC p.G10D Missense 2/7 - 2
1-115258753-C-A c.29G>T p.G10V Missense 2/7 - 2
1-115258753-CC-GT c.28_29delinsAC p.G10T Missense 2/7 - 1
1-115258753-C-G c.29G>C p.G10A Missense 2/7 - 2
1-115258753-C-T c.29G>A p.G10E Missense 2/7 - 11
1-115258754-C-A c.28G>T p.G10* Nonsense 2/7 - 4
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 - 3
1-115258755-A-G c.27T>C p.V9= Synonymous 2/7 - 1
1-115258756-A-C c.26T>G p.V9G Missense 2/7 - 1
1-115258757-C-A c.25G>T p.V9F Missense 2/7 - 1
1-115258757-C-T c.25G>A p.V9I Missense 2/7 - 1
1-115258758-C-A c.24G>T p.V8= Synonymous 2/7 - 1
1-115258759-A-C c.23T>G p.V8G Missense 2/7 - 1
1-115258759-A-G c.23T>C p.V8A Missense 2/7 - 1
1-115258759-A-T c.23T>A p.V8E Missense 2/7 - 1
1-115258760-C-A c.22G>T p.V8L Missense 2/7 - 1
1-115258760-C-T c.22G>A p.V8M Missense 2/7 - 1
1-115258761-C-A c.21G>T p.V7= Synonymous 2/7 - 2
1-115258761-C-G c.21G>C p.V7= Synonymous 2/7 - 1
1-115258761-C-T c.21G>A p.V7= Synonymous 2/7 - 1
1-115258762-A-C c.20T>G p.V7G Missense 2/7 - 1
1-115258763-C-A c.19G>T p.V7L 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 - 6
1-115258764-C-G c.18G>C p.L6= Synonymous 2/7 - 4
1-115258764-C-T c.18G>A p.L6= Synonymous 2/7 - 4
1-115258766-G-A c.16C>T p.L6= Synonymous 2/7 - 6
1-115258765-A-T c.17T>A p.L6Q Missense 2/7 - 1
1-115258765-A-AGG c.16_17insCC p.L6Pfs*15 Frameshift 2/7 - 1
1-115258766-G-C c.16C>G p.L6V Missense 2/7 - 1
1-115258766-G-T c.16C>A p.L6M Missense 2/7 - 2
1-115258767-T-A c.15A>T p.K5N Missense 2/7 - 1
1-115258767-T-C c.15A>G p.K5= Synonymous 2/7 - 2
1-115258767-T-G c.15A>C p.K5N Missense 2/7 - 1
1-115258768-T-C c.14A>G p.K5R Missense 2/7 - 2
1-115258768-T-G c.14A>C p.K5T Missense 2/7 - 1
1-115258766-G-GT c.15dup p.L6Tfs*26 Frameshift 2/7 - 1
1-115258766-GT-G c.15del p.K5Nfs*15 Frameshift 2/7 - 2
1-115258769-T-C c.13A>G p.K5E Missense 2/7 - 1
1-115258769-T-TA c.12_13insT p.K5* Nonsense 2/7 - 1
1-115258770-G-A c.12C>T p.Y4= Synonymous 2/7 - 1
1-115258770-G-T c.12C>A p.Y4* Nonsense 2/7 - 1
1-115258771-T-A c.11A>T p.Y4F Missense 2/7 - 3
1-115258771-T-C c.11A>G p.Y4C Missense 2/7 - 3
1-115258772-A-C c.10T>G p.Y4D Missense 2/7 - 2
1-115258772-A-G c.10T>C p.Y4H Missense 2/7 - 1
1-115258772-A-T c.10T>A p.Y4N Missense 2/7 - 2
1-115258773-C-A c.9G>T p.E3D Missense 2/7 - 2
1-115258773-C-T c.9G>A p.E3= Synonymous 2/7 - 1
1-115258774-T-C c.8A>G p.E3G Missense 2/7 - 2
1-115258774-T-G c.8A>C p.E3A Missense 2/7 - 2
1-115258775-C-A c.7G>T p.E3* Nonsense 2/7 - 3
1-115258775-C-G c.7G>C p.E3Q Missense 2/7 - 3
1-115258775-C-T c.7G>A p.E3K Missense 2/7 - 3
1-115258776-A-C c.6T>G p.T2= Synonymous 2/7 - 5
1-115258776-A-G c.6T>C p.T2= Synonymous 2/7 - 5
1-115258776-A-T c.6T>A p.T2= Synonymous 2/7 - 6
1-115258777-G-C c.5C>G p.T2S Missense 2/7 - 1
1-115258777-G-T c.5C>A p.T2N Missense 2/7 - 2
1-115258778-T-C c.4A>G p.T2A Missense 2/7 - 4
1-115258779-C-A c.3G>T p.M1? Missense 2/7 - 3
1-115258780-A-C c.2T>G p.M1? Missense 2/7 - 1
1-115258780-A-T c.2T>A p.M1? Missense 2/7 - 1
1-115258781-T-C c.1A>G p.M1? Missense 2/7 - 2
1-115259084-G-A c.-18+195C>T - intron_variant - 1/6 1
1-115259123-T-A c.-18+156A>T - intron_variant - 1/6 1
1-115259123-T-C c.-18+156A>G - intron_variant - 1/6 1
1-115259123-T-G c.-18+156A>C - intron_variant - 1/6 1
1-115259217-T-G c.-18+62A>C - intron_variant - 1/6 1
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