RPS6KB2

RPS6KB2 ribosomal protein S6 kinase B2

Annotation transcript: NM_003952.3

601 unique variant annotations were identified in 349 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
11-67196021-C-T c.5C>T p.A2V Missense 1/15 - 1
11-67196022-G-A c.6G>A p.A2= Synonymous 1/15 - 1
11-67196022-G-C c.6G>C p.A2= Synonymous 1/15 - 1
11-67196022-G-T c.6G>T p.A2= Synonymous 1/15 - 1
11-67196022-GGCC-G c.8_10del p.A3del InFrameDeletion 1/15 - 1
11-67196025-C-A c.9C>A p.A3= Synonymous 1/15 - 1
11-67196025-C-G c.9C>G p.A3= Synonymous 1/15 - 1
11-67196025-C-T c.9C>T p.A3= Synonymous 1/15 - 1
11-67196028-G-A c.12G>A p.V4= Synonymous 1/15 - 1
11-67196028-G-C c.12G>C p.V4= Synonymous 1/15 - 1
11-67196028-G-T c.12G>T p.V4= Synonymous 1/15 - 1
11-67196032-G-C c.16G>C p.D6H Missense 1/15 - 1
11-67196039-A-G c.23A>G p.D8G Missense 1/15 - 1
11-67196042-T-A c.26T>A p.L9* Nonsense 1/15 - 1
11-67196046-G-C c.30G>C p.E10D Missense 1/15 - 1
11-67196046-G-T c.30G>T p.E10D Missense 1/15 - 1
11-67196049-G-A c.33G>A p.T11= Synonymous 1/15 - 3
11-67196059-AG-GC c.43_44delinsGC p.S15A Missense 1/15 - 1
11-67196061-C-T c.45C>T p.S15= Synonymous 1/15 - 1
11-67196062-G-A c.46G>A p.E16K Missense 1/15 - 3
11-67196062-G-C c.46G>C p.E16Q Missense 1/15 - 3
11-67196065-G-A c.49G>A p.G17S Missense 1/15 - 2
11-67196068-G-A c.52G>A p.E18K Missense 1/15 - 1
11-67196071-G-A c.55G>A p.G19S Missense 1/15 - 1
11-67196084-T-C c.68T>C p.L23P Missense 1/15 - 1
11-67196086-AGC-GAG c.70_72delinsGAG p.S24E Missense 1/15 - 1
11-67196237-T-C c.78+143T>C - IntronicSNV - 1/14 9
11-67196456-GC-CA c.82_83delinsCA p.A28Q Missense 2/15 - 1
11-67196456-G-T c.82G>T p.A28S Missense 2/15 - 1
11-67196457-C-G c.83C>G p.A28G Missense 2/15 - 1
11-67196463-C-T c.89C>T p.P30L Missense 2/15 - 1
11-67196465-C-T c.91C>T p.L31F Missense 2/15 - 1
11-67196468-GC-AT c.94_95delinsAT p.A32I Missense 2/15 - 1
11-67196469-C-A c.95C>A p.A32D Missense 2/15 - 1
11-67196483-G-A c.109G>A p.A37T Missense 2/15 - 1
11-67196483-G-T c.109G>T p.A37S Missense 2/15 - 1
11-67196486-G-A c.112G>A p.G38S Missense 2/15 - 1
11-67196492-G-C c.118G>C p.E40Q Missense 2/15 - 1
11-67196517-A-T c.119+24A>T - IntronicSNV - 2/14 1
11-67196525-A-C c.119+32A>C - IntronicSNV - 2/14 1
11-67196544-C-G c.120-47C>G - IntronicSNV - 2/14 10
11-67196544-C-T c.120-47C>T - IntronicSNV - 2/14 10
11-67196593-C-A c.122C>A p.P41H Missense 3/15 - 1
11-67196600-A-C c.129A>C p.G43= Synonymous 3/15 - 1
11-67196600-A-G c.129A>G p.G43= Synonymous 3/15 - 1
11-67196600-A-T c.129A>T p.G43= Synonymous 3/15 - 1
11-67196603-C-A c.132C>A p.H44Q Missense 3/15 - 1
11-67196603-C-G c.132C>G p.H44Q Missense 3/15 - 1
11-67196606-T-C c.135T>C p.Y45= Synonymous 3/15 - 1
11-67196610-G-A c.139G>A p.E47K Missense 3/15 - 1
11-67196613-G-C c.142G>C p.V48L Missense 3/15 - 1
11-67196613-G-T c.142G>T p.V48L Missense 3/15 - 1
11-67196618-GCTGA-G c.152_155del p.T51Rfs*4 Frameshift 3/15 - 1
11-67196623-C-T c.152C>T p.T51I Missense 3/15 - 1
11-67196625-G-A c.154G>A p.E52K Missense 3/15 - 1
11-67196625-G-C c.154G>C p.E52Q Missense 3/15 - 1
11-67196627-G-T c.156G>T p.E52D Missense 3/15 - 1
11-67196636-G-A c.165G>A p.V55= Synonymous 3/15 - 2
11-67196636-G-C c.165G>C p.V55= Synonymous 3/15 - 2
11-67196636-G-T c.165G>T p.V55= Synonymous 3/15 - 2
11-67196637-A-T c.166A>T p.N56Y Missense 3/15 - 1
11-67196649-GAG-TGT c.178_180delinsTGT p.E60C Missense 3/15 - 1
11-67196651-G-A c.180G>A p.E60= Synonymous 3/15 - 3
11-67196652-C-T c.181C>T p.R61C Missense 3/15 - 1
11-67196653-G-A c.182G>A p.R61H Missense 3/15 - 2
11-67196654-C-A c.183C>A p.R61= Synonymous 3/15 - 1
11-67196657-C-G c.186C>G p.I62M Missense 3/15 - 1
11-67196658-G-A c.187G>A p.G63R Missense 3/15 - 1
11-67196666-C-T c.195C>T p.H65= Synonymous 3/15 - 1
11-67196667-CT-C c.196del p.C66Afs*33 Frameshift 3/15 - 1
11-67196673-G-T c.202G>T p.E68* Nonsense 3/15 - 1
11-67196674-A-C c.203A>C p.E68A Missense 3/15 - 1
11-67196676-C-T c.205C>T p.L69= Synonymous 3/15 - 1
11-67196678-G-A c.207G>A p.L69= Synonymous 3/15 - 1
11-67196678-G-C c.207G>C p.L69= Synonymous 3/15 - 1
11-67196678-G-T c.207G>T p.L69= Synonymous 3/15 - 1
11-67196680-T-A c.209T>A p.L70Q Missense 3/15 - 1
11-67196691-G-A c.220G>A p.G74S Missense 3/15 - 1
11-67196697-G-A c.226G>A p.G76R Missense 3/15 - 1
11-67196697-G-C c.226G>C p.G76R Missense 3/15 - 1
11-67196699-G-A c.228G>A p.G76= Synonymous 3/15 - 1
11-67196699-G-C c.228G>C p.G76= Synonymous 3/15 - 1
11-67196699-G-T c.228G>T p.G76= Synonymous 3/15 - 1
11-67196700-G-A c.229G>A p.G77S Missense 3/15 - 1
11-67196701-G-A c.230G>A p.G77D Missense 3/15 - 1
11-67196707-G-A c.236G>A p.G79D Missense 3/15 - 1
11-67196710-A-G c.239A>G p.K80R Missense 3/15 - 1
11-67196712-G-C c.240+1G>C - IntronicSNV - 3/14 1
11-67196713-T-C c.240+2T>C - IntronicSNV - 3/14 1
11-67196721-G-T c.240+10G>T - IntronicSNV - 3/14 1
11-67196933-CAG-C c.241-65_241-64del - IntronicDeletion - 3/14 1
11-67197002-T-G c.245T>G p.F82C Missense 4/15 - 2
11-67197026-C-A c.269C>A p.T90N Missense 4/15 - 1
11-67197026-CC-AG c.269_270delinsAG p.T90K Missense 4/15 - 1
11-67197026-C-T c.269C>T p.T90I Missense 4/15 - 2
11-67197035-G-C c.278G>C p.G93A Missense 4/15 - 2
11-67197046-G-A c.289G>A p.A97T Missense 4/15 - 1
11-67197046-GC-TG c.289_290delinsTG p.A97C Missense 4/15 - 1
11-67197061-A-G c.304A>G p.R102G Missense 4/15 - 1
11-67197074-A-G c.309+8A>G - IntronicSNV - 4/14 1
11-67198840-C-T c.311C>T p.A104V Missense 5/15 - 1
11-67198851-C-T c.322C>T p.R108C Missense 5/15 - 2
11-67198852-G-A c.323G>A p.R108H Missense 5/15 - 1
11-67198852-G-T c.323G>T p.R108L Missense 5/15 - 1
11-67198855-A-G c.326A>G p.N109S Missense 5/15 - 2
11-67198855-A-T c.326A>T p.N109I Missense 5/15 - 1
11-67198860-A-C c.331A>C p.K111Q Missense 5/15 - 1
11-67198860-A-G c.331A>G p.K111E Missense 5/15 - 1
11-67198866-A-T c.337A>T p.T113S Missense 5/15 - 1
11-67198869-G-C c.340G>C p.A114P Missense 5/15 - 1
11-67198879-G-A c.350G>A p.R117Q Missense 5/15 - 1
11-67198879-G-T c.350G>T p.R117L Missense 5/15 - 1
11-67198883-T-C c.354T>C p.A118= Synonymous 5/15 - 1
11-67198884-G-A c.355G>A p.E119K Missense 5/15 - 2
11-67198887-C-G c.358C>G p.R120G Missense 5/15 - 1
11-67198887-CGG-TGT c.358_360delinsTGT p.R120C Missense 5/15 - 1
11-67198887-C-T c.358C>T p.R120W Missense 5/15 - 8
11-67198888-G-T c.359G>T p.R120L Missense 5/15 - 2
11-67198889-G-A c.360G>A p.R120= Synonymous 5/15 - 1
11-67198892-C-T c.363C>T p.N121= Synonymous 5/15 - 1
11-67198896-C-A c.367C>A p.L123I Missense 5/15 - 1
11-67198904-A-C c.375A>C p.S125= Synonymous 5/15 - 1
11-67198904-A-G c.375A>G p.S125= Synonymous 5/15 - 1
11-67198904-A-T c.375A>T p.S125= Synonymous 5/15 - 1
11-67198912-A-T c.383A>T p.H128L Missense 5/15 - 1
11-67198919-T-G c.390T>G p.F130L Missense 5/15 - 1
11-67198923-G-C c.394G>C p.V132L Missense 5/15 - 1
11-67198923-G-T c.394G>T p.V132L Missense 5/15 - 1
11-67198925-G-A c.396G>A p.V132= Synonymous 5/15 - 1
11-67198926-G-A c.397G>A p.E133K Missense 5/15 - 1
11-67198928-A-C c.399A>C p.E133D Missense 5/15 - 1
11-67198928-A-T c.399A>T p.E133D Missense 5/15 - 1
11-67198930-T-C c.401T>C p.L134P Missense 5/15 - 1
11-67198934-C-A c.405C>A p.A135= Synonymous 5/15 - 2
11-67198934-C-G c.405C>G p.A135= Synonymous 5/15 - 1
11-67198934-C-T c.405C>T p.A135= Synonymous 5/15 - 1
11-67198936-A-G c.407A>G p.Y136C Missense 5/15 - 2
11-67198944-C-T c.415C>T p.Q139* Nonsense 5/15 - 2
11-67198945-A-G c.416A>G p.Q139R Missense 5/15 - 1
11-67198951-G-A c.422G>A p.G141D Missense 5/15 - 2
11-67198951-G-T c.422G>T p.G141V Missense 5/15 - 1
11-67198961-C-A c.432C>A p.L144= Synonymous 5/15 - 1
11-67198961-C-G c.432C>G p.L144= Synonymous 5/15 - 1
11-67198961-C-T c.432C>T p.L144= Synonymous 5/15 - 1
11-67198964-C-T c.435C>T p.Y145= Synonymous 5/15 - 1
11-67198966-T-C c.437T>C p.L146P Missense 5/15 - 1
11-67198966-T-G c.437T>G p.L146R Missense 5/15 - 1
11-67198970-C-G c.441C>G p.I147M Missense 5/15 - 1
11-67198972-T-C c.443T>C p.L148P Missense 5/15 - 1
11-67198974-G-C c.445G>C p.E149Q Missense 5/15 - 1
11-67199706-C-A c.458-365C>A - IntronicSNV - 5/14 9
11-67199706-C-G c.458-365C>G - IntronicSNV - 5/14 9
11-67199706-C-T c.458-365C>T - IntronicSNV - 5/14 9
11-67200072-T-A c.459T>A p.G153= Synonymous 6/15 - 1
11-67200072-T-C c.459T>C p.G153= Synonymous 6/15 - 1
11-67200072-T-G c.459T>G p.G153= Synonymous 6/15 - 3
11-67200074-GC-AG c.461_462delinsAG p.G154E Missense 6/15 - 1
11-67200076-G-A c.463G>A p.E155K Missense 6/15 - 4
11-67200076-GA-AG c.463_464delinsAG p.E155R Missense 6/15 - 1
11-67200077-A-G c.464A>G p.E155G Missense 6/15 - 2
11-67200079-C-T c.466C>T p.L156F Missense 6/15 - 1
11-67200082-T-C c.469T>C p.F157L Missense 6/15 - 1
11-67200084-C-A c.471C>A p.F157L Missense 6/15 - 1
11-67200084-C-G c.471C>G p.F157L Missense 6/15 - 1
11-67200085-A-G c.472A>G p.T158A Missense 6/15 - 1
11-67200086-CG-TC c.473_474delinsTC p.T158I Missense 6/15 - 1
11-67200086-C-T c.473C>T p.T158M Missense 6/15 - 1
11-67200087-G-A c.474G>A p.T158= Synonymous 6/15 - 2
11-67200087-G-C c.474G>C p.T158= Synonymous 6/15 - 2
11-67200087-G-T c.474G>T p.T158= Synonymous 6/15 - 2
11-67200088-C-T c.475C>T p.H159Y Missense 6/15 - 1
11-67200089-A-T c.476A>T p.H159L Missense 6/15 - 1
11-67200091-CTG-TTT c.478_480delinsTTT p.L160F Missense 6/15 - 1
11-67200096-G-C c.483G>C p.E161D Missense 6/15 - 1
11-67200096-G-T c.483G>T p.E161D Missense 6/15 - 1
11-67200100-G-A c.487G>A p.E163K Missense 6/15 - 1
11-67200103-G-A c.490G>A p.G164S Missense 6/15 - 1
11-67200104-G-A c.491G>A p.G164D Missense 6/15 - 2
11-67200113-T-A c.500T>A p.L167Q Missense 6/15 - 1
11-67200115-G-C c.502G>C p.E168Q Missense 6/15 - 1
11-67200117-A-G c.504A>G p.E168= Synonymous 6/15 - 1
11-67200118-G-T c.505G>T p.D169Y Missense 6/15 - 1
11-67200121-A-G c.508A>G p.T170A Missense 6/15 - 1
11-67200122-C-A c.509C>A p.T170K Missense 6/15 - 2
11-67200122-C-T c.509C>T p.T170M Missense 6/15 - 2
11-67200123-G-A c.510G>A p.T170= Synonymous 6/15 - 2
11-67200123-G-C c.510G>C p.T170= Synonymous 6/15 - 1
11-67200123-G-T c.510G>T p.T170= Synonymous 6/15 - 3
11-67200122-CG-C c.511del p.A171Pfs*40 Frameshift 6/15 - 1
11-67200124-G-A c.511G>A p.A171T Missense 6/15 - 2
11-67200124-G-T c.511G>T p.A171S Missense 6/15 - 1
11-67200208-C-CCTTGCCAACATCTGTTTGTTTTTTTT c.516_517insCTTGCCAACATCTGTTTGTTTTTTTT p.F173Lfs*47 SpliceAcceptorInsertion 7/15 - 1
11-67200208-C-T c.516C>T p.C172= Synonymous 7/15 - 1
11-67200216-T-A c.524T>A p.L175Q Missense 7/15 - 1
11-67200219-C-T c.527C>T p.A176V Missense 7/15 - 1
11-67200221-G-A c.529G>A p.E177K Missense 7/15 - 8
11-67200224-A-G c.532A>G p.I178V Missense 7/15 - 1
11-67200228-C-T c.536C>T p.T179M Missense 7/15 - 2
11-67200235-C-G c.543C>G p.A181= Synonymous 7/15 - 2
11-67200238-G-T c.546G>T p.L182= Synonymous 7/15 - 1
11-67200239-G-T c.547G>T p.G183C Missense 7/15 - 2
11-67200246-T-G c.554T>G p.L185R Missense 7/15 - 1
11-67200247-C-A c.555C>A p.L185= Synonymous 7/15 - 1
11-67200247-C-G c.555C>G p.L185= Synonymous 7/15 - 1
11-67200247-C-T c.555C>T p.L185= Synonymous 7/15 - 1
11-67200248-C-T c.556C>T p.H186Y Missense 7/15 - 1
11-67200251-T-A c.559T>A p.S187T Missense 7/15 - 1
11-67200252-C-T c.560C>T p.S187F Missense 7/15 - 1
11-67200253-C-T c.561C>T p.S187= Synonymous 7/15 - 1
11-67200254-C-T c.562C>T p.Q188* Nonsense 7/15 - 1
11-67200256-G-T c.564G>T p.Q188H Missense 7/15 - 1
11-67200262-C-T c.570C>T p.I190= Synonymous 7/15 - 2
11-67200264-T-C c.572T>C p.I191T Missense 7/15 - 1
11-67200265-C-G c.573C>G p.I191M Missense 7/15 - 2
11-67200269-C-A c.577C>A p.R193= Synonymous 7/15 - 1
11-67200269-C-T c.577C>T p.R193W Missense 7/15 - 4
11-67200270-G-A c.578G>A p.R193Q Missense 7/15 - 1
11-67200275-C-T c.583C>T p.L195F Missense 7/15 - 1
11-67200277-C-G c.585C>G p.L195= Synonymous 7/15 - 1
11-67200279-A-T c.587A>T p.K196M Missense 7/15 - 1
11-67200282-C-T c.590C>T p.P197L Missense 7/15 - 1
11-67200283-C-T c.591C>T p.P197= Synonymous 7/15 - 2
11-67200298-C-G c.606C>G p.L202= Synonymous 7/15 - 2
11-67200298-C-T c.606C>T p.L202= Synonymous 7/15 - 3
11-67200299-AG-TT c.607_608delinsTT p.S203F Missense 7/15 - 2
11-67200301-C-T c.609C>T p.S203= Synonymous 7/15 - 1
11-67200306-A-G c.614A>G p.Q205R Missense 7/15 - 1
11-67200308-G-A c.616G>A p.G206S Missense 7/15 - 1
11-67200423-G-A c.617G>A p.G206D Missense 8/15 - 1
11-67200434-C-T c.628C>T p.L210= Synonymous 8/15 - 2
11-67200436-G-A c.630G>A p.L210= Synonymous 8/15 - 1
11-67200436-G-C c.630G>C p.L210= Synonymous 8/15 - 1
11-67200436-G-T c.630G>T p.L210= Synonymous 8/15 - 1
11-67200437-AC-CA c.631_632delinsCA p.T211H Missense 8/15 - 1
11-67200438-C-T c.632C>T p.T211I Missense 8/15 - 1
11-67200439-C-T c.633C>T p.T211= Synonymous 8/15 - 2
11-67200446-G-A c.640G>A p.G214R Missense 8/15 - 1
11-67200451-C-T c.645C>T p.L215= Synonymous 8/15 - 1
11-67200453-G-A c.647G>A p.C216Y Missense 8/15 - 2
11-67200454-C-T c.648C>T p.C216= Synonymous 8/15 - 1
11-67200458-G-A c.652G>A p.E218K Missense 8/15 - 1
11-67200461-T-C c.655T>C p.S219P Missense 8/15 - 1
11-67200464-A-G c.658A>G p.I220V Missense 8/15 - 1
11-67200466-C-A c.660C>A p.I220= Synonymous 8/15 - 1
11-67200466-C-T c.660C>T p.I220= Synonymous 8/15 - 1
11-67200470-G-C c.664G>C p.E222Q Missense 8/15 - 1
11-67200475-C-A c.669C>A p.G223= Synonymous 8/15 - 1
11-67200475-C-G c.669C>G p.G223= Synonymous 8/15 - 1
11-67200475-C-T c.669C>T p.G223= Synonymous 8/15 - 3
11-67200476-G-A c.670G>A p.A224T Missense 8/15 - 2
11-67200478-C-T c.672C>T p.A224= Synonymous 8/15 - 1
11-67200479-G-A c.673G>A p.V225I Missense 8/15 - 3
11-67200479-GTC-ATG c.673_675delinsATG p.V225M Missense 8/15 - 1
11-67200485-C-T c.679C>T p.H227Y Missense 8/15 - 1
11-67200488-ACC-TAA c.682_684delinsTAA p.T228* Nonsense 8/15 - 1
11-67200489-C-A c.683C>A p.T228N Missense 8/15 - 3
11-67200491-T-C c.685T>C p.F229L Missense 8/15 - 1
11-67200496-C-T c.690C>T p.C230= Synonymous 8/15 - 1
11-67200497-G-A c.691G>A p.G231S Missense 8/15 - 1
11-67200498-G-A c.692G>A p.G231D Missense 8/15 - 1
11-67200504-T-C c.698T>C p.I233T Missense 8/15 - 7
11-67200512-A-C c.706A>C p.M236L Missense 8/15 - 1
11-67200512-A-G c.706A>G p.M236V Missense 8/15 - 1
11-67200512-A-T c.706A>T p.M236L Missense 8/15 - 1
11-67200513-T-C c.707T>C p.M236T Missense 8/15 - 1
11-67200518-G-T c.707+5G>T - IntronicSNV - 8/14 1
11-67200521-G-T c.707+8G>T - IntronicSNV - 8/14 1
11-67200599-C-A c.710C>A p.A237D Missense 9/15 - 1
11-67200603-T-G c.714T>G p.P238= Synonymous 9/15 - 2
11-67200616-C-T c.727C>T p.R243C Missense 9/15 - 3
11-67200620-G-T c.731G>T p.S244I Missense 9/15 - 1
11-67200622-G-T c.733G>T p.G245C Missense 9/15 - 1
11-67200625-C-A c.736C>A p.H246N Missense 9/15 - 1
11-67200627-C-T c.738C>T p.H246= Synonymous 9/15 - 1
11-67200631-C-T c.742C>T p.R248W Missense 9/15 - 1
11-67200632-G-T c.743G>T p.R248L Missense 9/15 - 1
11-67200635-C-T c.746C>T p.A249V Missense 9/15 - 2
11-67200636-T-A c.747T>A p.A249= Synonymous 9/15 - 1
11-67200636-T-C c.747T>C p.A249= Synonymous 9/15 - 1
11-67200638-T-C c.749T>C p.V250A Missense 9/15 - 1
11-67200644-G-A c.755G>A p.W252* Nonsense 9/15 - 1
11-67200647-G-A c.758G>A p.W253* Nonsense 9/15 - 1
11-67200648-G-A c.759G>A p.W253* Nonsense 9/15 - 1
11-67200655-G-A c.766G>A p.G256R Missense 9/15 - 2
11-67200655-G-C c.766G>C p.G256R Missense 9/15 - 1
11-67200657-G-A c.768G>A p.G256= Synonymous 9/15 - 2
11-67200657-G-C c.768G>C p.G256= Synonymous 9/15 - 1
11-67200657-G-T c.768G>T p.G256= Synonymous 9/15 - 1
11-67200658-G-A c.769G>A p.A257T Missense 9/15 - 1
11-67200665-T-C c.776T>C p.M259T Missense 9/15 - 1
11-67200666-G-A c.777G>A p.M259I Missense 9/15 - 1
11-67200671-A-G c.782A>G p.D261G Missense 9/15 - 2
11-67200672-C-A c.783C>A p.D261E Missense 9/15 - 1
11-67200687-G-A c.798G>A p.S266= Synonymous 9/15 - 1
11-67200706-G-A c.798+19G>A - IntronicSNV - 9/14 1
11-67200763-G-T c.799-48G>T - IntronicSNV - 9/14 1
11-67200807-C-A c.799-4C>A - IntronicSNV - 9/14 2
11-67200811-C-G c.799C>G p.P267A Missense 10/15 - 1
11-67200812-C-A c.800C>A p.P267Q Missense 10/15 - 4
11-67200812-C-T c.800C>T p.P267L Missense 10/15 - 16
11-67200813-G-A c.801G>A p.P267= Synonymous 10/15 - 1
11-67200813-G-C c.801G>C p.P267= Synonymous 10/15 - 1
11-67200813-G-T c.801G>T p.P267= Synonymous 10/15 - 1
11-67200815-C-T c.803C>T p.P268L Missense 10/15 - 1
11-67200817-T-C c.805T>C p.F269L Missense 10/15 - 1
11-67200819-C-A c.807C>A p.F269L Missense 10/15 - 7
11-67200819-C-T c.807C>T p.F269= Synonymous 10/15 - 22
11-67200820-A-G c.808A>G p.T270A Missense 10/15 - 1
11-67200822-C-A c.810C>A p.T270= Synonymous 10/15 - 1
11-67200822-C-G c.810C>G p.T270= Synonymous 10/15 - 1
11-67200822-C-T c.810C>T p.T270= Synonymous 10/15 - 3
11-67200823-G-A c.811G>A p.A271T Missense 10/15 - 2
11-67200823-G-T c.811G>T p.A271S Missense 10/15 - 2
11-67200824-C-A c.812C>A p.A271E Missense 10/15 - 1
11-67200824-C-T c.812C>T p.A271V Missense 10/15 - 1
11-67200826-G-A c.814G>A p.E272K Missense 10/15 - 1
11-67200828-G-A c.816G>A p.E272= Synonymous 10/15 - 1
11-67200832-C-T c.820C>T p.R274W Missense 10/15 - 3
11-67200833-G-A c.821G>A p.R274Q Missense 10/15 - 4
11-67200837-G-A c.825G>A p.K275= Synonymous 10/15 - 1
11-67200841-A-C c.829A>C p.T277P Missense 10/15 - 1
11-67200847-G-A c.835G>A p.D279N Missense 10/15 - 5
11-67200852-G-C c.840G>C p.K280N Missense 10/15 - 2
11-67200852-G-T c.840G>T p.K280N Missense 10/15 - 2
11-67200855-C-A c.843C>A p.I281= Synonymous 10/15 - 2
11-67200855-C-T c.843C>T p.I281= Synonymous 10/15 - 5
11-67200858-C-CT c.846_847insT p.R283* Nonsense 10/15 - 1
11-67200859-A-G c.847A>G p.R283G Missense 10/15 - 1
11-67200863-G-T c.851G>T p.G284V Missense 10/15 - 1
11-67200867-G-A c.855G>A p.K285= Synonymous 10/15 - 2
11-67200871-G-C c.859G>C p.A287P Missense 10/15 - 1
11-67200875-T-C c.863T>C p.L288P Missense 10/15 - 1
11-67200877-C-A c.865C>A p.P289T Missense 10/15 - 1
11-67200877-C-T c.865C>T p.P289S Missense 10/15 - 2
11-67200878-C-T c.866C>T p.P289L Missense 10/15 - 1
11-67200880-C-T c.868C>T p.P290S Missense 10/15 - 1
11-67200876-G-GC c.870dup p.Y291Lfs*31 Frameshift 10/15 - 1
11-67200883-CT-C c.871del p.Y291Tfs*14 Frameshift 10/15 - 1
11-67200884-A-T c.872A>T p.Y291F Missense 10/15 - 1
11-67200890-C-T c.878C>T p.T293I Missense 10/15 - 1
11-67200898-G-A c.886G>A p.A296T Missense 10/15 - 1
11-67200899-C-T c.887C>T p.A296V Missense 10/15 - 1
11-67200902-G-A c.890G>A p.R297Q Missense 10/15 - 1
11-67200904-G-A c.892G>A p.D298N Missense 10/15 - 1
11-67200905-A-T c.893A>T p.D298V Missense 10/15 - 1
11-67200919-G-T c.906+1G>T - IntronicSNV - 10/14 2
11-67200964-C-T c.906+46C>T - IntronicSNV - 10/14 1
11-67201008-C-T c.906+90C>T - IntronicSNV - 10/14 6
11-67201453-C-G c.907-13C>G - IntronicSNV - 10/14 1
11-67201467-T-A c.908T>A p.F303Y Missense 11/15 - 1
11-67201473-A-G c.914A>G p.K305R Missense 11/15 - 1
11-67201475-C-T c.916C>T p.R306W Missense 11/15 - 3
11-67201476-G-A c.917G>A p.R306Q Missense 11/15 - 1
11-67201476-G-T c.917G>T p.R306L Missense 11/15 - 1
11-67201479-A-G c.920A>G p.N307S Missense 11/15 - 4
11-67201481-C-A c.922C>A p.P308T Missense 11/15 - 1
11-67201482-C-T c.923C>T p.P308L Missense 11/15 - 3
11-67201487-C-A c.928C>A p.Q310K Missense 11/15 - 1
11-67201490-C-T c.931C>T p.R311W Missense 11/15 - 3
11-67201491-G-A c.932G>A p.R311Q Missense 11/15 - 1
11-67201498-G-T c.939G>T p.G313= Synonymous 11/15 - 1
11-67201500-GT-AG c.941_942delinsAG p.G314E Missense 11/15 - 1
11-67201508-G-A c.949G>A p.G317R Missense 11/15 - 1
11-67201508-G-C c.949G>C p.G317R Missense 11/15 - 1
11-67201508-GG-AC c.949_950delinsAC p.G317T Missense 11/15 - 1
11-67201509-G-T c.950G>T p.G317V Missense 11/15 - 1
11-67201511-G-C c.952G>C p.D318H Missense 11/15 - 1
11-67201515-C-T c.956C>T p.A319V Missense 11/15 - 1
11-67201517-G-T c.958G>T p.A320S Missense 11/15 - 1
11-67201518-C-T c.959C>T p.A320V Missense 11/15 - 1
11-67201521-A-G c.962A>G p.D321G Missense 11/15 - 2
11-67201523-G-A c.964G>A p.V322M Missense 11/15 - 1
11-67201523-GTG-ATC c.964_966delinsATC p.V322I Missense 11/15 - 1
11-67201547-C-A c.969+19C>A - IntronicSNV - 11/14 1
11-67201615-C-T c.970-54C>T - IntronicSNV - 11/14 2
11-67201678-T-C c.979T>C p.F327L Missense 12/15 - 6
11-67201680-T-A c.981T>A p.F327L Missense 12/15 - 1
11-67201680-T-G c.981T>G p.F327L Missense 12/15 - 1
11-67201681-T-C c.982T>C p.F328L Missense 12/15 - 1
11-67201683-C-T c.984C>T p.F328= Synonymous 12/15 - 1
11-67201684-C-T c.985C>T p.R329W Missense 12/15 - 2
11-67201685-G-A c.986G>A p.R329Q Missense 12/15 - 1
11-67201685-G-T c.986G>T p.R329L Missense 12/15 - 1
11-67201688-A-C c.989A>C p.H330P Missense 12/15 - 1
11-67201690-A-G c.991A>G p.M331V Missense 12/15 - 2
11-67201692-G-A c.993G>A p.M331I Missense 12/15 - 1
11-67201692-G-C c.993G>C p.M331I Missense 12/15 - 1
11-67201692-G-T c.993G>T p.M331I Missense 12/15 - 2
11-67201701-C-T c.1002C>T p.D334= Synonymous 12/15 - 2
11-67201702-G-A c.1003G>A p.D335N Missense 12/15 - 2
11-67201712-C-T c.1013C>T p.A338V Missense 12/15 - 2
11-67201714-T-A c.1015T>A p.W339R Missense 12/15 - 1
11-67201714-T-C c.1015T>C p.W339R Missense 12/15 - 1
11-67201717-C-T c.1018C>T p.R340C Missense 12/15 - 2
11-67201718-G-A c.1019G>A p.R340H Missense 12/15 - 4
11-67201720-GTG-ATC c.1021_1023delinsATC p.V341I Missense 12/15 - 1
11-67201722-G-A c.1023G>A p.V341= Synonymous 12/15 - 2
11-67201722-G-C c.1023G>C p.V341= Synonymous 12/15 - 1
11-67201722-G-T c.1023G>T p.V341= Synonymous 12/15 - 1
11-67201730-C-T c.1031C>T p.P344L Missense 12/15 - 1
11-67201731-T-C c.1032T>C p.P344= Synonymous 12/15 - 1
11-67201733-T-C c.1034T>C p.F345S Missense 12/15 - 1
11-67201734-C-T c.1035C>T p.F345= Synonymous 12/15 - 1
11-67201738-C-T c.1039C>T p.P347S Missense 12/15 - 2
11-67201739-C-A c.1040C>A p.P347H Missense 12/15 - 1
11-67201739-C-T c.1040C>T p.P347L Missense 12/15 - 1
11-67201742-G-A c.1043G>A p.C348Y Missense 12/15 - 1
11-67201775-C-G c.1047+29C>G - IntronicSNV - 12/14 1
11-67201775-C-T c.1047+29C>T - IntronicSNV - 12/14 1
11-67201780-G-T c.1047+34G>T - IntronicSNV - 12/14 1
11-67201781-C-T c.1047+35C>T - IntronicSNV - 12/14 1
11-67201840-G-C c.1048-8G>C - IntronicSNV - 12/14 1
11-67201840-G-T c.1048-8G>T - IntronicSNV - 12/14 1
11-67201844-ACAG-A c.1048_1050del p.Q350del InFrameDeletion 13/15 - 1
11-67201849-A-G c.1049A>G p.Q350R Missense 13/15 - 1
11-67201850-G-A c.1050G>A p.Q350= Synonymous 13/15 - 1
11-67201863-G-A c.1063G>A p.V355M Missense 13/15 - 1
11-67201863-GTG-ATC c.1063_1065delinsATC p.V355I Missense 13/15 - 1
11-67201866-A-G c.1066A>G p.S356G Missense 13/15 - 2
11-67201868-C-T c.1068C>T p.S356= Synonymous 13/15 - 1
11-67201870-A-T c.1070A>T p.Q357L Missense 13/15 - 1
11-67201873-T-C c.1073T>C p.F358S Missense 13/15 - 1
11-67201878-TACC-T c.1078_1080del p.T360del InFrameDeletion 13/15 - 1
11-67201878-TA-T c.1078del p.T360Pfs*134 Frameshift 13/15 - 1
11-67201881-C-T c.1081C>T p.R361C Missense 13/15 - 2
11-67201886-C-T c.1086C>T p.F362= Synonymous 13/15 - 1
11-67201890-C-T c.1090C>T p.R364W Missense 13/15 - 6
11-67201891-G-A c.1091G>A p.R364Q Missense 13/15 - 1
11-67201893-C-T c.1093C>T p.Q365* Nonsense 13/15 - 3
11-67201897-C-A c.1097C>A p.T366K Missense 13/15 - 1
11-67201897-C-T c.1097C>T p.T366M Missense 13/15 - 3
11-67201898-G-A c.1098G>A p.T366= Synonymous 13/15 - 2
11-67201898-G-C c.1098G>C p.T366= Synonymous 13/15 - 1
11-67201898-G-T c.1098G>T p.T366= Synonymous 13/15 - 1
11-67201900-C-T c.1100C>T p.P367L Missense 13/15 - 2
11-67201901-G-A c.1101G>A p.P367= Synonymous 13/15 - 1
11-67201902-G-A c.1102G>A p.V368M Missense 13/15 - 2
11-67201902-G-C c.1102G>C p.V368L Missense 13/15 - 2
11-67201906-A-G c.1106A>G p.D369G Missense 13/15 - 1
11-67201908-AGT-TGA c.1108_1110delinsTGA p.S370* Nonsense 13/15 - 1
11-67201910-T-C c.1110T>C p.S370= Synonymous 13/15 - 1
11-67201914-G-T c.1114G>T p.D372Y Missense 13/15 - 1
11-67201918-A-G c.1118A>G p.D373G Missense 13/15 - 1
11-67201923-G-C c.1123G>C p.A375P Missense 13/15 - 1
11-67201923-G-T c.1123G>T p.A375S Missense 13/15 - 2
11-67201924-C-T c.1124C>T p.A375V Missense 13/15 - 1
11-67201928-C-G c.1128C>G p.L376= Synonymous 13/15 - 1
11-67201933-A-C c.1133A>C p.E378A Missense 13/15 - 1
11-67201934-G-C c.1134G>C p.E378D Missense 13/15 - 1
11-67201934-G-T c.1134G>T p.E378D Missense 13/15 - 1
11-67201935-A-T c.1135A>T p.S379C Missense 13/15 - 1
11-67201938-G-A c.1138G>A p.A380T Missense 13/15 - 2
11-67201939-C-T c.1139C>T p.A380V Missense 13/15 - 2
11-67201943-C-T c.1143C>T p.N381= Synonymous 13/15 - 1
11-67201948-C-G c.1148C>G p.A383G Missense 13/15 - 1
11-67201949-C-G c.1149C>G p.A383= Synonymous 13/15 - 1
11-67201953-C-A c.1153C>A p.L385M Missense 13/15 - 1
11-67201960-G-A c.1155+5G>A - IntronicSNV - 13/14 1
11-67202044-G-A c.1156-9G>A - IntronicSNV - 13/14 9
11-67202044-G-C c.1156-9G>C - IntronicSNV - 13/14 9
11-67202053-G-A c.1156G>A p.G386S Missense 14/15 - 1
11-67202059-AC-GA c.1162_1163delinsGA p.T388E Missense 14/15 - 1
11-67202059-AC-TA c.1162_1163delinsTA p.T388* Nonsense 14/15 - 1
11-67202065-G-A c.1168G>A p.V390M Missense 14/15 - 2
11-67202068-G-A c.1171G>A p.A391T Missense 14/15 - 1
11-67202069-C-T c.1172C>T p.A391V Missense 14/15 - 3
11-67202073-G-A c.1176G>A p.P392= Synonymous 14/15 - 3
11-67202073-G-C c.1176G>C p.P392= Synonymous 14/15 - 2
11-67202073-G-T c.1176G>T p.P392= Synonymous 14/15 - 1
11-67202074-T-C c.1177T>C p.S393P Missense 14/15 - 1
11-67202076-T-A c.1179T>A p.S393= Synonymous 14/15 - 1
11-67202076-T-C c.1179T>C p.S393= Synonymous 14/15 - 1
11-67202076-T-G c.1179T>G p.S393= Synonymous 14/15 - 1
11-67202083-G-A c.1186G>A p.D396N Missense 14/15 - 1
11-67202086-A-T c.1189A>T p.S397C Missense 14/15 - 1
11-67202091-C-A c.1194C>A p.I398= Synonymous 14/15 - 1
11-67202092-AAGG-A c.1199_1201del p.E400del InFrameDeletion 14/15 - 1
11-67202098-G-A c.1201G>A p.G401S Missense 14/15 - 2
11-67202100-C-A c.1203C>A p.G401= Synonymous 14/15 - 1
11-67202100-C-G c.1203C>G p.G401= Synonymous 14/15 - 1
11-67202100-C-T c.1203C>T p.G401= Synonymous 14/15 - 1
11-67202103-C-G c.1206C>G p.F402L Missense 14/15 - 1
11-67202103-C-T c.1206C>T p.F402= Synonymous 14/15 - 1
11-67202106-C-A c.1209C>A p.S403= Synonymous 14/15 - 1
11-67202106-C-G c.1209C>G p.S403= Synonymous 14/15 - 1
11-67202106-C-T c.1209C>T p.S403= Synonymous 14/15 - 1
11-67202119-C-T c.1222C>T p.L408= Synonymous 14/15 - 1
11-67202122-CGC-AAG c.1225_1227delinsAAG p.R409K Missense 14/15 - 1
11-67202126-CA-TT c.1229_1230delinsTT p.S410F Missense 14/15 - 1
11-67202126-C-G c.1229C>G p.S410* Nonsense 14/15 - 1
11-67202126-C-T c.1229C>T p.S410L Missense 14/15 - 1
11-67202131-A-C c.1234A>C p.R412= Synonymous 14/15 - 1
11-67202133-G-A c.1236G>A p.R412= Synonymous 14/15 - 1
11-67202134-C-T c.1237C>T p.R413C Missense 14/15 - 3
11-67202135-G-A c.1238G>A p.R413H Missense 14/15 - 2
11-67202135-GC-AA c.1238_1239delinsAA p.R413Q Missense 14/15 - 1
11-67202143-AG-GA c.1246_1247delinsGA p.S416D Missense 14/15 - 1
11-67202150-C-T c.1253C>T p.P418L UnclassifiedSNV 14/15 - 2
11-67202152-C-T c.1255C>T p.R419W Missense 14/15 - 2
11-67202156-C-T c.1259C>T p.A420V Missense 14/15 - 32
11-67202157-C-A c.1260C>A p.A420= Synonymous 14/15 - 1
11-67202157-C-G c.1260C>G p.A420= Synonymous 14/15 - 1
11-67202157-C-T c.1260C>T p.A420= Synonymous 14/15 - 1
11-67202460-C-CA c.1269_1270insA p.P424Tfs*8 SpliceAcceptorInsertion 15/15 - 1
11-67202460-C-CG c.1269_1270insG p.P424Afs*8 SpliceAcceptorInsertion 15/15 - 1
11-67202460-C-CT c.1269_1270insT p.P424Sfs*8 SpliceAcceptorInsertion 15/15 - 1
11-67202460-C-T c.1269C>T p.S423= Synonymous 15/15 - 1
11-67202462-C-T c.1271C>T p.P424L Missense 15/15 - 2
11-67202459-GC-G c.1273del p.L425Sfs*69 Frameshift 15/15 - 3
11-67202472-C-A c.1281C>A p.F427L Missense 15/15 - 1
11-67202476-C-T c.1285C>T p.P429S Missense 15/15 - 3
11-67202473-TC-T c.1286del p.P429Lfs*65 Frameshift 15/15 - 1
11-67202477-CT-C c.1290del p.F430Lfs*64 Frameshift 15/15 - 1
11-67202484-G-A c.1293G>A p.E431= Synonymous 15/15 - 1
11-67202491-C-T c.1300C>T p.R434W Missense 15/15 - 3
11-67202493-G-C c.1302G>C p.R434= Synonymous 15/15 - 2
11-67202495-CC-AA c.1304_1305delinsAA p.P435Q Missense 15/15 - 1
11-67202493-GC-G c.1305del p.S436Afs*58 Frameshift 15/15 - 1
11-67202501-C-A c.1310C>A p.P437H Missense 15/15 - 1
11-67202498-GC-G c.1311del p.S438Afs*56 Frameshift 15/15 - 1
11-67202502-C-A c.1311C>A p.P437= Synonymous 15/15 - 3
11-67202502-C-G c.1311C>G p.P437= Synonymous 15/15 - 2
11-67202502-C-T c.1311C>T p.P437= Synonymous 15/15 - 3
11-67202504-G-A c.1313G>A p.S438N Missense 15/15 - 1
11-67202504-G-C c.1313G>C p.S438T Missense 15/15 - 1
11-67202504-G-T c.1313G>T p.S438I Missense 15/15 - 1
11-67202505-C-T c.1314C>T p.S438= Synonymous 15/15 - 1
11-67202510-C-A c.1319C>A p.P440Q Missense 15/15 - 1
11-67202510-C-G c.1319C>G p.P440R Missense 15/15 - 1
11-67202510-C-T c.1319C>T p.P440L Missense 15/15 - 9
11-67202511-G-A c.1320G>A p.P440= Synonymous 15/15 - 1
11-67202514-G-A c.1323G>A p.E441= Synonymous 15/15 - 1
11-67202516-CC-AA c.1325_1326delinsAA p.P442Q Missense 15/15 - 1
11-67202516-C-T c.1325C>T p.P442L Missense 15/15 - 1
11-67202519-C-T c.1328C>T p.T443M Missense 15/15 - 4
11-67202520-G-A c.1329G>A p.T443= Synonymous 15/15 - 1
11-67202523-G-A c.1332G>A p.E444= Synonymous 15/15 - 1
11-67202525-T-C c.1334T>C p.L445P Missense 15/15 - 1
11-67202528-C-T c.1337C>T p.P446L Missense 15/15 - 1
11-67202530-C-G c.1339C>G p.L447V Missense 15/15 - 8
11-67202531-T-C c.1340T>C p.L447P Missense 15/15 - 1
11-67202534-C-T c.1343C>T p.P448L Missense 15/15 - 1
11-67202536-C-G c.1345C>G p.P449A Missense 15/15 - 4
11-67202542-C-G c.1351C>G p.L451V Missense 15/15 - 1
11-67202543-T-C c.1352T>C p.L451P Missense 15/15 - 1
11-67202545-C-A c.1354C>A p.P452T Missense 15/15 - 1
11-67202545-C-T c.1354C>T p.P452S Missense 15/15 - 1
11-67202546-C-T c.1355C>T p.P452L Missense 15/15 - 1
11-67202549-C-A c.1358C>A p.P453Q Missense 15/15 - 1
11-67202549-C-T c.1358C>T p.P453L Missense 15/15 - 1
11-67202550-G-A c.1359G>A p.P453= Synonymous 15/15 - 2
11-67202552-C-T c.1361C>T p.P454L Missense 15/15 - 3
11-67202553-G-A c.1362G>A p.P454= Synonymous 15/15 - 3
11-67202553-G-C c.1362G>C p.P454= Synonymous 15/15 - 1
11-67202553-G-T c.1362G>T p.P454= Synonymous 15/15 - 4
11-67202555-C-T c.1364C>T p.P455L Missense 15/15 - 1
11-67202556-G-A c.1365G>A p.P455= Synonymous 15/15 - 2
11-67202556-G-C c.1365G>C p.P455= Synonymous 15/15 - 1
11-67202556-G-T c.1365G>T p.P455= Synonymous 15/15 - 1
11-67202559-C-A c.1368C>A p.P456= Synonymous 15/15 - 1
11-67202561-C-T c.1370C>T p.S457L Missense 15/15 - 1
11-67202562-G-A c.1371G>A p.S457= Synonymous 15/15 - 2
11-67202562-G-C c.1371G>C p.S457= Synonymous 15/15 - 1
11-67202562-G-T c.1371G>T p.S457= Synonymous 15/15 - 1
11-67202563-AC-A c.1374del p.T459Pfs*35 Frameshift 15/15 - 1
11-67202569-G-A c.1378G>A p.A460T Missense 15/15 - 5
11-67202569-G-T c.1378G>T p.A460S Missense 15/15 - 1
11-67202573-C-G c.1382C>G p.P461R Missense 15/15 - 1
11-67202573-C-T c.1382C>T p.P461L Missense 15/15 - 2
11-67202578-C-A c.1387C>A p.P463T Missense 15/15 - 1
11-67202578-C-T c.1387C>T p.P463S Missense 15/15 - 1
11-67202583-C-A c.1392C>A p.I464= Synonymous 15/15 - 1
11-67202583-C-T c.1392C>T p.I464= Synonymous 15/15 - 1
11-67202585-G-A c.1394G>A p.R465H Missense 15/15 - 4
11-67202589-C-T c.1398C>T p.P466= Synonymous 15/15 - 1
11-67202590-C-T c.1399C>T p.P467S Missense 15/15 - 3
11-67202591-C-A c.1400C>A p.P467H Missense 15/15 - 3
11-67202592-C-A c.1401C>A p.P467= Synonymous 15/15 - 1
11-67202592-C-G c.1401C>G p.P467= Synonymous 15/15 - 1
11-67202592-C-T c.1401C>T p.P467= Synonymous 15/15 - 2
11-67202593-T-C c.1402T>C p.S468P Missense 15/15 - 3
11-67202594-C-A c.1403C>A p.S468* Nonsense 15/15 - 2
11-67202594-C-G c.1403C>G p.S468* Nonsense 15/15 - 3
11-67202604-G-A c.1413G>A p.K471= Synonymous 15/15 - 1
11-67202610-C-A c.1419C>A p.S473= Synonymous 15/15 - 1
11-67202610-C-G c.1419C>G p.S473= Synonymous 15/15 - 1
11-67202610-C-T c.1419C>T p.S473= Synonymous 15/15 - 1
11-67202611-A-G c.1420A>G p.K474E Missense 15/15 - 1
11-67202612-A-T c.1421A>T p.K474M Missense 15/15 - 1
11-67202614-A-G c.1423A>G p.R475G Missense 15/15 - 1
11-67202620-C-G c.1429C>G p.R477G Missense 15/15 - 1
11-67202620-C-T c.1429C>T p.R477C Missense 15/15 - 1
11-67202621-G-A c.1430G>A p.R477H Missense 15/15 - 1
11-67202621-GT-AA c.1430_1431delinsAA p.R477Q Missense 15/15 - 1
11-67202627-G-A c.1436G>A p.R479H Missense 15/15 - 3
11-67202630-C-A c.1439C>A p.P480Q Missense 15/15 - 2
11-67202635-C-A c.1444C>A p.R482S Missense 15/15 - 1
11-67202635-C-T c.1444C>T p.R482C Missense 15/15 - 2
11-67202826-G-A c.*186G>A - 3-UTRSNV 15/15 - 6
11-67202826-G-T c.*186G>T - 3-UTRSNV 15/15 - 6
11-67202847-G-A c.*207G>A - 3-UTRSNV 15/15 - 1