SLC22A11

SLC22A11 solute carrier family 22 member 11

Annotation transcript: NM_018484.4

630 unique variant annotations were identified in 398 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
11-64323474-G-A c.3G>A p.M1? Missense 1/10 - 1
11-64323474-G-T c.3G>T p.M1? Missense 1/10 - 1
11-64323476-C-A c.5C>A p.A2E Missense 1/10 - 4
11-64323476-C-T c.5C>T p.A2V Missense 1/10 - 8
11-64323478-T-C c.7T>C p.F3L Missense 1/10 - 2
11-64323480-C-A c.9C>A p.F3L Missense 1/10 - 1
11-64323480-C-G c.9C>G p.F3L Missense 1/10 - 1
11-64323482-C-T c.11C>T p.S4L Missense 1/10 - 1
11-64323499-GC-TA c.28_29delinsTA p.A10Y Missense 1/10 - 2
11-64323500-CC-AG c.29_30delinsAG p.A10E Missense 1/10 - 2
11-64323500-C-T c.29C>T p.A10V Missense 1/10 - 2
11-64323502-G-A c.31G>A p.G11R Missense 1/10 - 1
11-64323502-G-C c.31G>C p.G11R Missense 1/10 - 1
11-64323505-G-A c.34G>A p.G12S Missense 1/10 - 1
11-64323506-GC-AG c.35_36delinsAG p.G12E Missense 1/10 - 1
11-64323507-C-A c.36C>A p.G12= Synonymous 1/10 - 1
11-64323507-C-G c.36C>G p.G12= Synonymous 1/10 - 1
11-64323507-C-T c.36C>T p.G12= Synonymous 1/10 - 1
11-64323508-G-C c.37G>C p.V13L Missense 1/10 - 2
11-64323508-G-T c.37G>T p.V13L Missense 1/10 - 2
11-64323514-C-G c.43C>G p.L15V Missense 1/10 - 1
11-64323524-C-T c.53C>T p.T18I Missense 1/10 - 1
11-64323529-C-T c.58C>T p.Q20* Nonsense 1/10 - 1
11-64323537-C-G c.66C>G p.L22= Synonymous 1/10 - 1
11-64323543-C-T c.72C>T p.F24= Synonymous 1/10 - 3
11-64323547-C-A c.76C>A p.L26I Missense 1/10 - 1
11-64323551-C-T c.80C>T p.P27L Missense 1/10 - 3
11-64323553-T-A c.82T>A p.C28S Missense 1/10 - 1
11-64323554-G-C c.83G>C p.C28S Missense 1/10 - 1
11-64323554-G-A c.83G>A p.C28Y Missense 1/10 - 1
11-64323556-C-T c.85C>T p.L29F Missense 1/10 - 1
11-64323557-T-C c.86T>C p.L29P Missense 1/10 - 7
11-64323559-A-G c.88A>G p.M30V Missense 1/10 - 1
11-64323560-T-A c.89T>A p.M30K Missense 1/10 - 1
11-64323561-G-A c.90G>A p.M30I Missense 1/10 - 1
11-64323561-G-C c.90G>C p.M30I Missense 1/10 - 1
11-64323561-G-T c.90G>T p.M30I Missense 1/10 - 1
11-64323562-A-G c.91A>G p.I31V Missense 1/10 - 4
11-64323568-TC-CT c.97_98delinsCT p.S33L Missense 1/10 - 1
11-64323570-C-T c.99C>T p.S33= Synonymous 1/10 - 1
11-64323577-C-A c.106C>A p.L36I Missense 1/10 - 2
11-64323577-C-T c.106C>T p.L36F Missense 1/10 - 1
11-64323580-C-T c.109C>T p.L37= Synonymous 1/10 - 1
11-64323582-G-A c.111G>A p.L37= Synonymous 1/10 - 1
11-64323582-G-C c.111G>C p.L37= Synonymous 1/10 - 1
11-64323582-G-T c.111G>T p.L37= Synonymous 1/10 - 1
11-64323583-G-A c.112G>A p.E38K Missense 1/10 - 1
11-64323589-T-C c.118T>C p.F40L Missense 1/10 - 1
11-64323591-C-A c.120C>A p.F40L Missense 1/10 - 1
11-64323591-C-G c.120C>G p.F40L Missense 1/10 - 1
11-64323593-C-G c.122C>G p.S41* Nonsense 1/10 - 1
11-64323593-C-T c.122C>T p.S41L Missense 1/10 - 2
11-64323598-G-A c.127G>A p.A43T Missense 1/10 - 1
11-64323598-G-T c.127G>T p.A43S Missense 1/10 - 1
11-64323607-G-A c.136G>A p.G46S Missense 1/10 - 2
11-64323607-GGC-TGG c.136_138delinsTGG p.G46W Missense 1/10 - 1
11-64323610-C-A c.139C>A p.H47N Missense 1/10 - 1
11-64323612-C-A c.141C>A p.H47Q Missense 1/10 - 1
11-64323612-C-G c.141C>G p.H47Q Missense 1/10 - 1
11-64323613-CGA-TAT c.142_144delinsTAT p.R48Y Missense 1/10 - 3
11-64323613-C-T c.142C>T p.R48* Nonsense 1/10 - 17
11-64323614-G-A c.143G>A p.R48Q Missense 1/10 - 2
11-64323620-G-T c.149G>T p.W50L Missense 1/10 - 1
11-64323630-G-A c.159G>A p.M53I Missense 1/10 - 1
11-64323630-G-C c.159G>C p.M53I Missense 1/10 - 1
11-64323630-G-T c.159G>T p.M53I Missense 1/10 - 1
11-64323631-C-T c.160C>T p.L54= Synonymous 1/10 - 3
11-64323633-G-A c.162G>A p.L54= Synonymous 1/10 - 1
11-64323633-G-C c.162G>C p.L54= Synonymous 1/10 - 1
11-64323633-G-T c.162G>T p.L54= Synonymous 1/10 - 1
11-64323643-T-C c.172T>C p.S58P Missense 1/10 - 1
11-64323647-C-T c.176C>T p.A59V Missense 1/10 - 3
11-64323648-G-A c.177G>A p.A59= Synonymous 1/10 - 1
11-64323648-G-C c.177G>C p.A59= Synonymous 1/10 - 1
11-64323648-G-T c.177G>T p.A59= Synonymous 1/10 - 1
11-64323649-G-A c.178G>A p.V60I Missense 1/10 - 1
11-64323649-G-T c.178G>T p.V60F Missense 1/10 - 1
11-64323656-C-G c.185C>G p.T62R Missense 1/10 - 2
11-64323668-C-T c.197C>T p.P66L Missense 1/10 - 1
11-64323672-G-T c.201G>T p.K67N Missense 1/10 - 2
11-64323673-G-A c.202G>A p.A68T Missense 1/10 - 1
11-64323676-C-G c.205C>G p.L69V Missense 1/10 - 1
11-64323679-C-T c.208C>T p.L70= Synonymous 1/10 - 1
11-64323681-G-A c.210G>A p.L70= Synonymous 1/10 - 1
11-64323681-G-C c.210G>C p.L70= Synonymous 1/10 - 1
11-64323685-A-G c.214A>G p.I72V Missense 1/10 - 1
11-64323689-C-T c.218C>T p.S73F Missense 1/10 - 2
11-64323693-C-A c.222C>A p.I74= Synonymous 1/10 - 1
11-64323693-C-T c.222C>T p.I74= Synonymous 1/10 - 4
11-64323695-C-T c.224C>T p.P75L Missense 1/10 - 4
11-64323696-G-A c.225G>A p.P75= Synonymous 1/10 - 1
11-64323696-G-C c.225G>C p.P75= Synonymous 1/10 - 1
11-64323696-G-T c.225G>T p.P75= Synonymous 1/10 - 1
11-64323700-G-A c.229G>A p.G77S Missense 1/10 - 1
11-64323707-A-C c.236A>C p.N79T Missense 1/10 - 1
11-64323712-G-T c.241G>T p.G81W Missense 1/10 - 1
11-64323714-G-A c.243G>A p.G81= Synonymous 1/10 - 3
11-64323714-G-C c.243G>C p.G81= Synonymous 1/10 - 3
11-64323714-G-T c.243G>T p.G81= Synonymous 1/10 - 4
11-64323719-A-C c.248A>C p.H83P Missense 1/10 - 2
11-64323727-C-T c.256C>T p.R86C Missense 1/10 - 2
11-64323728-G-A c.257G>A p.R86H Missense 1/10 - 4
11-64323730-C-T c.259C>T p.R87C Missense 1/10 - 1
11-64323731-G-A c.260G>A p.R87H Missense 1/10 - 3
11-64323732-C-T c.261C>T p.R87= Synonymous 1/10 - 1
11-64323733-T-A c.262T>A p.F88I Missense 1/10 - 4
11-64323734-T-C c.263T>C p.F88S Missense 1/10 - 1
11-64323735-C-T c.264C>T p.F88= Synonymous 1/10 - 2
11-64323736-C-T c.265C>T p.R89C Missense 1/10 - 6
11-64323737-G-A c.266G>A p.R89H Missense 1/10 - 1
11-64323751-C-T c.280C>T p.Q94* Nonsense 1/10 - 1
11-64323754-C-T c.283C>T p.L95F Missense 1/10 - 4
11-64323758-T-C c.287T>C p.L96S Missense 1/10 - 1
11-64323758-T-G c.287T>G p.L96W Missense 1/10 - 2
11-64323763-C-T c.292C>T p.P98S Missense 1/10 - 1
11-64323767-A-G c.296A>G p.N99S Missense 1/10 - 1
11-64323768-T-A c.297T>A p.N99K Missense 1/10 - 1
11-64323769-G-A c.298G>A p.A100T Missense 1/10 - 2
11-64323770-C-T c.299C>T p.A100V Missense 1/10 - 1
11-64323773-C-T c.302C>T p.T101M Missense 1/10 - 1
11-64323776-C-A c.305C>A p.A102D Missense 1/10 - 1
11-64323783-C-A c.312C>A p.S104R Missense 1/10 - 1
11-64323783-C-T c.312C>T p.S104= Synonymous 1/10 - 2
11-64323784-T-A c.313T>A p.W105R Missense 1/10 - 1
11-64323790-G-A c.319G>A p.E107K Missense 1/10 - 3
11-64323790-G-T c.319G>T p.E107* Nonsense 1/10 - 1
11-64323797-A-G c.326A>G p.D109G Missense 1/10 - 2
11-64323798-C-T c.327C>T p.D109= Synonymous 1/10 - 1
11-64323800-C-T c.329C>T p.T110M Missense 1/10 - 1
11-64323801-G-T c.330G>T p.T110= Synonymous 1/10 - 1
11-64323802-G-A c.331G>A p.E111K Missense 1/10 - 2
11-64323806-C-A c.335C>A p.P112Q Missense 1/10 - 1
11-64323806-C-T c.335C>T p.P112L Missense 1/10 - 2
11-64323807-G-A c.336G>A p.P112= Synonymous 1/10 - 1
11-64323812-T-A c.341T>A p.V114E Missense 1/10 - 1
11-64323812-T-C c.341T>C p.V114A Missense 1/10 - 2
11-64323813-G-T c.342G>T p.V114= Synonymous 1/10 - 1
11-64323816-C-G c.345C>G p.D115E Missense 1/10 - 1
11-64323816-C-T c.345C>T p.D115= Synonymous 1/10 - 1
11-64323817-G-A c.346G>A p.G116S Missense 1/10 - 1
11-64323818-G-A c.347G>A p.G116D Missense 1/10 - 2
11-64323821-G-C c.350G>C p.W117S Missense 1/10 - 1
11-64323826-T-A c.355T>A p.Y119N Missense 1/10 - 1
11-64323830-A-G c.359A>G p.D120G Missense 1/10 - 1
11-64323832-C-T c.361C>T p.R121C Missense 1/10 - 2
11-64323833-G-A c.362G>A p.R121H Missense 1/10 - 1
11-64323838-G-A c.367G>A p.V123I Missense 1/10 - 1
11-64323838-G-T c.367G>T p.V123F Missense 1/10 - 1
11-64323845-CC-TG c.374_375delinsTG p.T125M Missense 1/10 - 1
11-64323848-C-G c.377C>G p.S126C Missense 1/10 - 2
11-64323855-C-A c.384C>A p.I128= Synonymous 1/10 - 1
11-64323855-C-T c.384C>T p.I128= Synonymous 1/10 - 1
11-64323861-C-T c.390C>T p.A130= Synonymous 1/10 - 1
11-64323864-G-A c.393G>A p.K131= Synonymous 1/10 - 4
11-64323877-C-A c.393+13C>A - IntronicSNV - 1/9 1
11-64323877-C-G c.393+13C>G - IntronicSNV - 1/9 1
11-64324120-G-A c.393+256G>A - IntronicSNV - 1/9 1
11-64324120-G-C c.393+256G>C - IntronicSNV - 1/9 1
11-64325069-G-C c.393+1205G>C - IntronicSNV - 1/9 2
11-64326608-G-A c.395G>A p.W132* Nonsense 2/10 - 1
11-64326609-G-A c.396G>A p.W132* Nonsense 2/10 - 1
11-64326609-G-T c.396G>T p.W132C Missense 2/10 - 1
11-64326610-G-A c.397G>A p.D133N Missense 2/10 - 1
11-64326610-G-T c.397G>T p.D133Y Missense 2/10 - 1
11-64326617-T-C c.404T>C p.V135A Missense 2/10 - 1
11-64326618-G-A c.405G>A p.V135= Synonymous 2/10 - 2
11-64326627-C-T c.414C>T p.S138= Synonymous 2/10 - 1
11-64326628-C-G c.415C>G p.Q139E Missense 2/10 - 1
11-64326630-G-A c.417G>A p.Q139= Synonymous 2/10 - 2
11-64326639-G-A c.426G>A p.K142= Synonymous 2/10 - 2
11-64326639-G-T c.426G>T p.K142N Missense 2/10 - 1
11-64326640-C-T c.427C>T p.P143S Missense 2/10 - 2
11-64326642-C-A c.429C>A p.P143= Synonymous 2/10 - 1
11-64326642-C-G c.429C>G p.P143= Synonymous 2/10 - 1
11-64326642-C-T c.429C>T p.P143= Synonymous 2/10 - 1
11-64326646-A-C c.433A>C p.S145R Missense 2/10 - 1
11-64326648-C-A c.435C>A p.S145R Missense 2/10 - 1
11-64326648-C-G c.435C>G p.S145R Missense 2/10 - 1
11-64326651-G-C c.438G>C p.Q146H Missense 2/10 - 1
11-64326659-T-G c.446T>G p.F149C Missense 2/10 - 1
11-64326664-T-C c.451T>C p.S151P Missense 2/10 - 1
11-64326666-C-A c.453C>A p.S151= Synonymous 2/10 - 1
11-64326666-C-G c.453C>G p.S151= Synonymous 2/10 - 1
11-64326666-C-T c.453C>T p.S151= Synonymous 2/10 - 1
11-64326669-G-A c.456G>A p.G152= Synonymous 2/10 - 1
11-64326669-G-C c.456G>C p.G152= Synonymous 2/10 - 1
11-64326669-G-T c.456G>T p.G152= Synonymous 2/10 - 1
11-64326672-C-A c.459C>A p.I153= Synonymous 2/10 - 1
11-64326672-C-T c.459C>T p.I153= Synonymous 2/10 - 1
11-64326675-G-A c.462G>A p.L154= Synonymous 2/10 - 1
11-64326676-G-A c.463G>A p.V155M Missense 2/10 - 5
11-64326677-T-G c.464T>G p.V155G Missense 2/10 - 8
11-64326680-G-A c.467G>A p.G156D Missense 2/10 - 2
11-64326681-C-T c.468C>T p.G156= Synonymous 2/10 - 3
11-64326684-C-A c.471C>A p.S157= Synonymous 2/10 - 1
11-64326684-C-G c.471C>G p.S157= Synonymous 2/10 - 1
11-64326684-C-T c.471C>T p.S157= Synonymous 2/10 - 3
11-64326690-C-A c.477C>A p.I159= Synonymous 2/10 - 1
11-64326690-C-T c.477C>T p.I159= Synonymous 2/10 - 1
11-64326693-G-GC c.480_481insC p.G161Rfs*126 Frameshift 2/10 - 1
11-64326694-G-A c.481G>A p.G161S Missense 2/10 - 2
11-64326696-C-A c.483C>A p.G161= Synonymous 2/10 - 3
11-64326696-C-G c.483C>G p.G161= Synonymous 2/10 - 2
11-64326696-C-T c.483C>T p.G161= Synonymous 2/10 - 1
11-64326703-T-C c.490T>C p.S164P Missense 2/10 - 5
11-64326709-C-T c.496C>T p.R166W Missense 2/10 - 2
11-64326710-G-A c.497G>A p.R166Q Missense 2/10 - 2
11-64326795-A-G c.497+85A>G - IntronicSNV - 2/9 4
11-64327597-C-T c.497+887C>T - IntronicSNV - 2/9 1
11-64327710-T-C c.497+1000T>C - IntronicSNV - 2/9 2
11-64327844-A-G c.497+1134A>G - IntronicSNV - 2/9 2
11-64329481-G-A c.503G>A p.G168E Missense 3/10 - 1
11-64329483-AG-CT c.505_506inv p.R169L Missense 3/10 - 1
11-64329484-G-A c.506G>A p.R169K Missense 3/10 - 1
11-64329490-C-T c.512C>T p.P171L Missense 3/10 - 1
11-64329499-G-C c.521G>C p.S174T Missense 3/10 - 1
11-64329505-G-T c.527G>T p.C176F Missense 3/10 - 1
11-64329510-C-T c.532C>T p.L178= Synonymous 3/10 - 1
11-64329512-G-A c.534G>A p.L178= Synonymous 3/10 - 1
11-64329512-G-C c.534G>C p.L178= Synonymous 3/10 - 1
11-64329512-G-T c.534G>T p.L178= Synonymous 3/10 - 1
11-64329515-G-A c.537G>A p.Q179= Synonymous 3/10 - 2
11-64329516-T-G c.538T>G p.L180V Missense 3/10 - 1
11-64329520-CC-TT c.542_543delinsTT p.A181V Missense 3/10 - 1
11-64329520-C-T c.542C>T p.A181V Missense 3/10 - 3
11-64329521-C-A c.543C>A p.A181= Synonymous 3/10 - 1
11-64329521-C-G c.543C>G p.A181= Synonymous 3/10 - 1
11-64329521-C-T c.543C>T p.A181= Synonymous 3/10 - 1
11-64329522-G-C c.544G>C p.V182L Missense 3/10 - 1
11-64329525-G-A c.547G>A p.A183T Missense 3/10 - 1
11-64329527-G-A c.549G>A p.A183= Synonymous 3/10 - 1
11-64329528-G-A c.550G>A p.G184S Missense 3/10 - 1
11-64329536-C-T c.558C>T p.S186= Synonymous 3/10 - 1
11-64329538-C-A c.560C>A p.T187N Missense 3/10 - 1
11-64329538-C-T c.560C>T p.T187I Missense 3/10 - 1
11-64329544-T-C c.566T>C p.F189S Missense 3/10 - 2
11-64329546-G-A c.568G>A p.A190T Missense 3/10 - 6
11-64329549-C-T c.571C>T p.P191S Missense 3/10 - 3
11-64329552-A-C c.574A>C p.T192P Missense 3/10 - 3
11-64329557-C-T c.579C>T p.F193= Synonymous 3/10 - 2
11-64329558-G-A c.580G>A p.V194I Missense 3/10 - 8
11-64329560-C-A c.582C>A p.V194= Synonymous 3/10 - 1
11-64329560-C-G c.582C>G p.V194= Synonymous 3/10 - 1
11-64329560-C-T c.582C>T p.V194= Synonymous 3/10 - 1
11-64329569-C-T c.591C>T p.C197= Synonymous 3/10 - 2
11-64329570-G-A c.592G>A p.G198S Missense 3/10 - 4
11-64329570-G-T c.592G>T p.G198C Missense 3/10 - 4
11-64329571-G-A c.593G>A p.G198D Missense 3/10 - 1
11-64329571-G-T c.593G>T p.G198V Missense 3/10 - 1
11-64329572-C-A c.594C>A p.G198= Synonymous 3/10 - 1
11-64329572-C-G c.594C>G p.G198= Synonymous 3/10 - 2
11-64329572-C-T c.594C>T p.G198= Synonymous 3/10 - 1
11-64329573-C-A c.595C>A p.L199M Missense 3/10 - 3
11-64329576-C-A c.598C>A p.R200= Synonymous 3/10 - 1
11-64329576-C-T c.598C>T p.R200W Missense 3/10 - 5
11-64329578-G-A c.600G>A p.R200= Synonymous 3/10 - 1
11-64329578-G-C c.600G>C p.R200= Synonymous 3/10 - 1
11-64329578-G-T c.600G>T p.R200= Synonymous 3/10 - 1
11-64329577-G-A c.599G>A p.R200Q Missense 3/10 - 8
11-64329581-C-T c.603C>T p.F201= Synonymous 3/10 - 2
11-64329582-G-A c.604G>A p.V202M Missense 3/10 - 1
11-64329588-G-A c.610G>A p.A204T Missense 3/10 - 2
11-64329590-T-C c.612T>C p.A204= Synonymous 3/10 - 3
11-64329590-T-G c.612T>G p.A204= Synonymous 3/10 - 3
11-64329594-G-T c.616G>T p.G206W Missense 3/10 - 1
11-64329596-G-A c.618G>A p.G206= Synonymous 3/10 - 2
11-64329596-G-C c.618G>C p.G206= Synonymous 3/10 - 1
11-64329596-G-T c.618G>T p.G206= Synonymous 3/10 - 1
11-64329601-C-T c.623C>T p.A208V Missense 3/10 - 1
11-64329602-C-A c.624C>A p.A208= Synonymous 3/10 - 1
11-64329602-C-G c.624C>G p.A208= Synonymous 3/10 - 1
11-64329602-C-T c.624C>T p.A208= Synonymous 3/10 - 2
11-64329603-G-A c.625G>A p.G209S Missense 3/10 - 9
11-64329603-G-T c.625G>T p.G209C Missense 3/10 - 1
11-64329606-A-G c.628A>G p.I210V Missense 3/10 - 1
11-64329614-G-A c.636G>A p.L212= Synonymous 3/10 - 2
11-64329619-C-T c.641C>T p.S214L Missense 3/10 - 5
11-64329625-C-G c.647C>G p.T216R Missense 3/10 - 1
11-64329661-TG-T c.652+36del - IntronicDeletion - 3/9 1
11-64329742-T-A c.656T>A p.V219E Missense 4/10 - 1
11-64329752-C-T c.666C>T p.T222= Synonymous 4/10 - 1
11-64329756-A-C c.670A>C p.T224P Missense 4/10 - 1
11-64329756-A-G c.670A>G p.T224A Missense 4/10 - 1
11-64329761-C-T c.675C>T p.S225= Synonymous 4/10 - 1
11-64329764-G-A c.678G>A p.R226= Synonymous 4/10 - 4
11-64329764-G-C c.678G>C p.R226S Missense 4/10 - 1
11-64329764-G-T c.678G>T p.R226S Missense 4/10 - 2
11-64329765-A-G c.679A>G p.R227G Missense 4/10 - 3
11-64329765-A-C c.679A>C p.R227= Synonymous 4/10 - 1
11-64329767-G-A c.681G>A p.R227= Synonymous 4/10 - 1
11-64329769-C-T c.683C>T p.A228V Missense 4/10 - 3
11-64329771-G-A c.685G>A p.V229I Missense 4/10 - 2
11-64329771-G-T c.685G>T p.V229F Missense 4/10 - 2
11-64329780-A-G c.694A>G p.T232A Missense 4/10 - 2
11-64329781-C-A c.695C>A p.T232K Missense 4/10 - 1
11-64329781-C-T c.695C>T p.T232M Missense 4/10 - 4
11-64329782-G-A c.696G>A p.T232= Synonymous 4/10 - 1
11-64329782-G-C c.696G>C p.T232= Synonymous 4/10 - 1
11-64329782-G-T c.696G>T p.T232= Synonymous 4/10 - 4
11-64329786-G-A c.700G>A p.V234M Missense 4/10 - 1
11-64329795-G-A c.709G>A p.A237T Missense 4/10 - 3
11-64329803-C-A c.717C>A p.S239R Missense 4/10 - 1
11-64329803-C-T c.717C>T p.S239= Synonymous 4/10 - 1
11-64329804-G-T c.718G>T p.A240S Missense 4/10 - 1
11-64329805-C-T c.719C>T p.A240V Missense 4/10 - 1
11-64329807-G-T c.721G>T p.G241C Missense 4/10 - 1
11-64329816-G-A c.730G>A p.A244T Missense 4/10 - 1
11-64329817-C-T c.731C>T p.A244V Missense 4/10 - 3
11-64329818-G-A c.732G>A p.A244= Synonymous 4/10 - 3
11-64329818-G-C c.732G>C p.A244= Synonymous 4/10 - 1
11-64329818-G-T c.732G>T p.A244= Synonymous 4/10 - 2
11-64329820-T-A c.734T>A p.L245Q Missense 4/10 - 1
11-64329822-G-C c.736G>C p.G246R Missense 4/10 - 1
11-64329823-G-A c.737G>A p.G246D Missense 4/10 - 2
11-64329824-C-A c.738C>A p.G246= Synonymous 4/10 - 1
11-64329824-C-G c.738C>G p.G246= Synonymous 4/10 - 1
11-64329824-C-T c.738C>T p.G246= Synonymous 4/10 - 4
11-64329825-G-A c.739G>A p.G247S Missense 4/10 - 1
11-64329825-G-C c.739G>C p.G247R Missense 4/10 - 1
11-64329825-G-T c.739G>T p.G247C Missense 4/10 - 2
11-64329831-G-A c.745G>A p.A249T Missense 4/10 - 3
11-64329832-C-T c.746C>T p.A249V Missense 4/10 - 1
11-64329834-T-TTA c.749_750insAT p.F250Lfs*23 Frameshift 4/10 - 1
11-64329840-C-A c.754C>A p.L252M Missense 4/10 - 1
11-64329843-C-T c.757C>T p.R253W Missense 4/10 - 1
11-64329844-G-A c.758G>A p.R253Q Missense 4/10 - 1
11-64329845-G-A c.759G>A p.R253= Synonymous 4/10 - 1
11-64329845-G-T c.759G>T p.R253= Synonymous 4/10 - 1
11-64329846-G-A c.760G>A p.D254N Missense 4/10 - 5
11-64329854-G-C c.768G>C p.R256S Missense 4/10 - 1
11-64329854-G-T c.768G>T p.R256S Missense 4/10 - 5
11-64329867-G-C c.781G>C p.A261P Missense 4/10 - 1
11-64329873-T-G c.787T>G p.S263A Missense 4/10 - 1
11-64329874-C-A c.788C>A p.S263* Nonsense 4/10 - 1
11-64329874-C-G c.788C>G p.S263* Nonsense 4/10 - 1
11-64329879-C-A c.793C>A p.P265T Missense 4/10 - 1
11-64329892-T-A c.806T>A p.I269N Missense 4/10 - 1
11-64329892-T-C c.806T>C p.I269T Missense 4/10 - 2
11-64329893-C-A c.807C>A p.I269= Synonymous 4/10 - 1
11-64329893-C-T c.807C>T p.I269= Synonymous 4/10 - 1
11-64329894-T-C c.808T>C p.S270P Missense 4/10 - 3
11-64329895-C-T c.809C>T p.S270F Missense 4/10 - 4
11-64329896-C-A c.810C>A p.S270= Synonymous 4/10 - 1
11-64329896-C-G c.810C>G p.S270= Synonymous 4/10 - 1
11-64329896-C-T c.810C>T p.S270= Synonymous 4/10 - 1
11-64329903-T-A c.817T>A p.S273T Missense 4/10 - 1
11-64329903-T-C c.817T>C p.S273P Missense 4/10 - 1
11-64329907-G-T c.821G>T p.W274L Missense 4/10 - 1
11-64330324-A-C c.821+417A>C - IntronicSNV - 4/9 1
11-64330324-A-G c.821+417A>G - IntronicSNV - 4/9 1
11-64330324-A-T c.821+417A>T - IntronicSNV - 4/9 1
11-64331462-A-G c.822-318A>G - IntronicSNV - 4/9 30
11-64331462-A-T c.822-318A>T - IntronicSNV - 4/9 30
11-64331568-G-A c.822-212G>A - IntronicSNV - 4/9 2
11-64331568-G-T c.822-212G>T - IntronicSNV - 4/9 2
11-64331677-A-G c.822-103A>G - IntronicSNV - 4/9 1
11-64331725-C-T c.822-55C>T - IntronicSNV - 4/9 1
11-64331785-T-C c.827T>C p.L276P Missense 5/10 - 1
11-64331785-T-G c.827T>G p.L276R Missense 5/10 - 1
11-64331790-G-A c.832G>A p.E278K Missense 5/10 - 7
11-64331793-T-A c.835T>A p.S279T Missense 5/10 - 2
11-64331794-C-T c.836C>T p.S279F Missense 5/10 - 2
11-64331795-C-T c.837C>T p.S279= Synonymous 5/10 - 1
11-64331796-G-A c.838G>A p.A280T Missense 5/10 - 1
11-64331799-CG-AA c.841_842delinsAA p.R281K Missense 5/10 - 1
11-64331799-C-T c.841C>T p.R281W Missense 5/10 - 4
11-64331800-G-A c.842G>A p.R281Q Missense 5/10 - 3
11-64331800-G-T c.842G>T p.R281L Missense 5/10 - 1
11-64331808-A-T c.850A>T p.I284F Missense 5/10 - 1
11-64331815-A-T c.857A>T p.K286M Missense 5/10 - 6
11-64331817-G-T c.859G>T p.G287C Missense 5/10 - 4
11-64331818-G-A c.860G>A p.G287D Missense 5/10 - 2
11-64331818-G-C c.860G>C p.G287A Missense 5/10 - 1
11-64331822-A-T c.864A>T p.K288N Missense 5/10 - 2
11-64331823-C-T c.865C>T p.P289S Missense 5/10 - 1
11-64331829-C-A c.871C>A p.Q291K Missense 5/10 - 1
11-64331830-A-G c.872A>G p.Q291R Missense 5/10 - 1
11-64331836-T-C c.878T>C p.L293P Missense 5/10 - 1
11-64331838-C-T c.880C>T p.Q294* Nonsense 5/10 - 2
11-64331839-A-G c.881A>G p.Q294R Missense 5/10 - 1
11-64331840-G-T c.882G>T p.Q294H Missense 5/10 - 1
11-64331844-C-G c.886C>G p.L296V Missense 5/10 - 1
11-64331852-G-T c.894G>T p.K298N Missense 5/10 - 1
11-64331854-T-G c.896T>G p.V299G Missense 5/10 - 1
11-64331857-C-T c.899C>T p.A300V Missense 5/10 - 2
11-64331869-G-T c.911G>T p.G304V Missense 5/10 - 2
11-64331877-G-A c.919G>A p.E307K Missense 5/10 - 1
11-64331882-C-A c.924C>A p.A308= Synonymous 5/10 - 1
11-64331882-C-G c.924C>G p.A308= Synonymous 5/10 - 1
11-64331882-C-T c.924C>T p.A308= Synonymous 5/10 - 1
11-64331885-G-C c.927G>C p.K309N Missense 5/10 - 1
11-64331885-G-T c.927G>T p.K309N Missense 5/10 - 2
11-64331893-C-T c.935C>T p.T312I Missense 5/10 - 1
11-64331896-T-C c.938T>C p.I313T Missense 5/10 - 1
11-64331905-G-T c.942+5G>T - IntronicSNV - 5/9 1
11-64332700-A-C c.949A>C p.M317L Missense 6/10 - 3
11-64332700-A-T c.949A>T p.M317L Missense 6/10 - 2
11-64332703-T-C c.952T>C p.S318P Missense 6/10 - 1
11-64332705-C-A c.954C>A p.S318= Synonymous 6/10 - 1
11-64332705-C-G c.954C>G p.S318= Synonymous 6/10 - 1
11-64332705-C-T c.954C>T p.S318= Synonymous 6/10 - 1
11-64332708-C-T c.957C>T p.S319= Synonymous 6/10 - 1
11-64332709-G-A c.958G>A p.V320M Missense 6/10 - 1
11-64332709-G-C c.958G>C p.V320L Missense 6/10 - 1
11-64332709-G-T c.958G>T p.V320L Missense 6/10 - 1
11-64332715-G-A c.964G>A p.E322K Missense 6/10 - 3
11-64332718-G-A c.967G>A p.E323K Missense 6/10 - 3
11-64332728-C-T c.977C>T p.S326F Missense 6/10 - 1
11-64332730-G-T c.979G>T p.A327S Missense 6/10 - 1
11-64332740-C-G c.989C>G p.P330R Missense 6/10 - 3
11-64332752-T-C c.1001T>C p.L334P Missense 6/10 - 1
11-64332766-G-A c.1015G>A p.V339M Missense 6/10 - 1
11-64332766-G-C c.1015G>C p.V339L Missense 6/10 - 1
11-64332769-C-A c.1018C>A p.P340T Missense 6/10 - 1
11-64332769-CC-TT c.1018_1019delinsTT p.P340F Missense 6/10 - 1
11-64332769-C-G c.1018C>G p.P340A Missense 6/10 - 1
11-64332769-C-T c.1018C>T p.P340S Missense 6/10 - 1
11-64332772-G-A c.1021G>A p.V341M Missense 6/10 - 1
11-64332779-G-A c.1028G>A p.R343H Missense 6/10 - 1
11-64332779-G-T c.1028G>T p.R343L Missense 6/10 - 5
11-64332784-A-C c.1033A>C p.R345= Synonymous 6/10 - 1
11-64332786-G-A c.1035G>A p.R345= Synonymous 6/10 - 1
11-64332792-C-T c.1041C>T p.C347= Synonymous 6/10 - 1
11-64332793-G-A c.1042G>A p.A348T Missense 6/10 - 1
11-64332805-G-T c.1054G>T p.V352L Missense 6/10 - 1
11-64332862-A-C c.1058+53A>C - IntronicSNV - 6/9 3
11-64333056-A-G c.1058+247A>G - IntronicSNV - 6/9 1
11-64333119-C-T c.1058+310C>T - IntronicSNV - 6/9 3
11-64333296-A-G c.1058+487A>G - IntronicSNV - 6/9 12
11-64334114-C-T c.1059-957C>T - IntronicSNV - 6/9 44
11-64334968-G-A c.1059-103G>A - IntronicSNV - 6/9 1
11-64335072-T-C c.1060T>C p.F354L Missense 7/10 - 2
11-64335074-C-A c.1062C>A p.F354L Missense 7/10 - 2
11-64335074-C-G c.1062C>G p.F354L Missense 7/10 - 2
11-64335081-T-C c.1069T>C p.L357= Synonymous 7/10 - 1
11-64335082-T-G c.1070T>G p.L357W Missense 7/10 - 1
11-64335083-G-A c.1071G>A p.L357= Synonymous 7/10 - 3
11-64335083-G-C c.1071G>C p.L357F Missense 7/10 - 1
11-64335102-G-T c.1090G>T p.V364F Missense 7/10 - 1
11-64335107-C-T c.1095C>T p.F365= Synonymous 7/10 - 2
11-64335108-G-A c.1096G>A p.D366N Missense 7/10 - 1
11-64335111-C-A c.1099C>A p.L367M Missense 7/10 - 3
11-64335111-C-T c.1099C>T p.L367= Synonymous 7/10 - 1
11-64335116-G-T c.1104G>T p.Q368H Missense 7/10 - 1
11-64335123-G-A c.1111G>A p.G371S Missense 7/10 - 2
11-64335126-CGT-TGG c.1114_1116delinsTGG p.R372W Missense 7/10 - 1
11-64335126-C-T c.1114C>T p.R372C Missense 7/10 - 5
11-64335127-G-A c.1115G>A p.R372H Missense 7/10 - 3
11-64335132-A-G c.1120A>G p.I374V Missense 7/10 - 1
11-64335145-A-C c.1133A>C p.Q378P Missense 7/10 - 1
11-64335147-G-A c.1135G>A p.A379T Missense 7/10 - 1
11-64335156-G-A c.1144G>A p.G382R Missense 7/10 - 1
11-64335161-C-T c.1149C>T p.A383= Synonymous 7/10 - 1
11-64335165-G-T c.1153G>T p.D385Y Missense 7/10 - 3
11-64335170-C-T c.1158C>T p.F386= Synonymous 7/10 - 1
11-64335177-C-G c.1165C>G p.R389G Missense 7/10 - 1
11-64335177-C-T c.1165C>T p.R389W Missense 7/10 - 4
11-64335178-G-A c.1166G>A p.R389Q Missense 7/10 - 1
11-64335178-G-T c.1166G>T p.R389L Missense 7/10 - 2
11-64335186-A-T c.1174A>T p.T392S Missense 7/10 - 1
11-64335187-C-G c.1175C>G p.T392S Missense 7/10 - 1
11-64335187-C-T c.1175C>T p.T392I Missense 7/10 - 4
11-64335190-C-T c.1178C>T p.A393V Missense 7/10 - 1
11-64335194-C-T c.1182C>T p.L394= Synonymous 7/10 - 1
11-64335198-C-T c.1186C>T p.L396F Missense 7/10 - 1
11-64335206-C-T c.1194C>T p.F398= Synonymous 7/10 - 1
11-64335207-C-A c.1195C>A p.L399I Missense 7/10 - 1
11-64335213-C-A c.1201C>A p.R401S Missense 7/10 - 1
11-64335213-C-T c.1201C>T p.R401C Missense 7/10 - 1
11-64335214-G-A c.1202G>A p.R401H Missense 7/10 - 2
11-64335222-A-G c.1210A>G p.I404V Missense 7/10 - 1
11-64335222-CATCCAGG-C c.1210_1216del p.I404Rfs*12 Frameshift 7/10 - 1
11-64335224-C-G c.1212C>G p.I404M Missense 7/10 - 1
11-64335225-C-T c.1213C>T p.Q405* Nonsense 7/10 - 1
11-64335231-G-A c.1219G>A p.G407S Missense 7/10 - 1
11-64335231-G-C c.1219G>C p.G407R Missense 7/10 - 1
11-64335236-C-T c.1224C>T p.S408= Synonymous 7/10 - 1
11-64335240-G-T c.1228G>T p.A410S Missense 7/10 - 1
11-64335250-G-C c.1238G>C p.G413A Missense 7/10 - 1
11-64335254-C-A c.1242C>A p.L414= Synonymous 7/10 - 2
11-64335254-C-G c.1242C>G p.L414= Synonymous 7/10 - 2
11-64335254-C-T c.1242C>T p.L414= Synonymous 7/10 - 2
11-64335255-G-A c.1243G>A p.A415T Missense 7/10 - 1
11-64335256-C-T c.1244C>T p.A415V Missense 7/10 - 1
11-64335266-C-A c.1254C>A p.A418= Synonymous 7/10 - 1
11-64335278-G-A c.1266G>A p.V422= Synonymous 7/10 - 1
11-64335278-G-T c.1266G>T p.V422= Synonymous 7/10 - 1
11-64335285-G-T c.1273G>T p.D425Y Missense 7/10 - 1
11-64335951-C-T c.1274-191C>T - IntronicSNV - 7/9 1
11-64336151-C-T c.1283C>T p.T428I Missense 8/10 - 1
11-64336156-C-T c.1288C>T p.R430C Missense 8/10 - 3
11-64336157-G-A c.1289G>A p.R430H Missense 8/10 - 2
11-64336157-G-T c.1289G>T p.R430L Missense 8/10 - 3
11-64336164-C-A c.1296C>A p.V432= Synonymous 8/10 - 1
11-64336164-C-T c.1296C>T p.V432= Synonymous 8/10 - 2
11-64336175-T-A c.1307T>A p.L436Q Missense 8/10 - 1
11-64336177-G-A c.1309G>A p.G437R Missense 8/10 - 1
11-64336177-G-C c.1309G>C p.G437R Missense 8/10 - 1
11-64336177-G-T c.1309G>T p.G437* Nonsense 8/10 - 1
11-64336179-A-C c.1311A>C p.G437= Synonymous 8/10 - 3
11-64336183-G-A c.1315G>A p.G439R Missense 8/10 - 4
11-64336183-G-C c.1315G>C p.G439R Missense 8/10 - 2
11-64336187-G-A c.1319G>A p.C440Y Missense 8/10 - 1
11-64336192-G-C c.1324G>C p.G442R Missense 8/10 - 2
11-64336193-G-A c.1325G>A p.G442E Missense 8/10 - 1
11-64336195-A-C c.1327A>C p.I443L Missense 8/10 - 1
11-64336195-A-T c.1327A>T p.I443L Missense 8/10 - 1
11-64336196-T-A c.1328T>A p.I443K Missense 8/10 - 1
11-64336208-G-A c.1340G>A p.C447Y Missense 8/10 - 1
11-64336208-G-T c.1340G>T p.C447F Missense 8/10 - 1
11-64336209-C-A c.1341C>A p.C447* Nonsense 8/10 - 2
11-64336213-A-G c.1345A>G p.T449A Missense 8/10 - 1
11-64336220-A-G c.1352A>G p.Y451C Missense 8/10 - 1
11-64336226-C-A c.1358C>A p.A453D Missense 8/10 - 2
11-64336230-A-C c.1362A>C p.E454D Missense 8/10 - 1
11-64336230-A-T c.1362A>T p.E454D Missense 8/10 - 1
11-64336241-C-T c.1373C>T p.T458M Missense 8/10 - 1
11-64336250-G-A c.1382G>A p.R461Q Missense 8/10 - 2
11-64336250-G-C c.1382G>C p.R461P Missense 8/10 - 1
11-64336258-G-T c.1382+8G>T - IntronicSNV - 8/9 1
11-64336315-G-GT c.1382+65_1382+66insT - IntronicInsertion - 8/9 1
11-64337132-C-T c.1391C>T p.A464V Missense 9/10 - 1
11-64337134-G-A c.1393G>A p.D465N Missense 9/10 - 1
11-64337136-T-C c.1395T>C p.D465= Synonymous 9/10 - 1
11-64337144-T-C c.1403T>C p.L468P Missense 9/10 - 1
11-64337144-T-G c.1403T>G p.L468R Missense 9/10 - 4
11-64337147-A-G c.1406A>G p.H469R Missense 9/10 - 1
11-64337158-C-A c.1417C>A p.R473= Synonymous 9/10 - 1
11-64337158-C-T c.1417C>T p.R473W Missense 9/10 - 3
11-64337159-G-A c.1418G>A p.R473Q Missense 9/10 - 2
11-64337159-G-T c.1418G>T p.R473L Missense 9/10 - 3
11-64337164-G-A c.1423G>A p.G475R Missense 9/10 - 2
11-64337164-G-C c.1423G>C p.G475R Missense 9/10 - 2
11-64337166-G-A c.1425G>A p.G475= Synonymous 9/10 - 2
11-64337166-G-C c.1425G>C p.G475= Synonymous 9/10 - 1
11-64337166-G-T c.1425G>T p.G475= Synonymous 9/10 - 1
11-64337172-G-A c.1431G>A p.M477I Missense 9/10 - 1
11-64337172-G-C c.1431G>C p.M477I Missense 9/10 - 1
11-64337172-G-T c.1431G>T p.M477I Missense 9/10 - 1
11-64337176-G-A c.1435G>A p.G479S Missense 9/10 - 2
11-64337177-G-A c.1436G>A p.G479D Missense 9/10 - 1
11-64337182-C-T c.1441C>T p.L481= Synonymous 9/10 - 1
11-64337184-G-A c.1443G>A p.L481= Synonymous 9/10 - 1
11-64337184-G-C c.1443G>C p.L481= Synonymous 9/10 - 1
11-64337184-G-T c.1443G>T p.L481= Synonymous 9/10 - 1
11-64337187-C-T c.1446C>T p.I482= Synonymous 9/10 - 2
11-64337188-C-T c.1447C>T p.L483= Synonymous 9/10 - 4
11-64337190-G-A c.1449G>A p.L483= Synonymous 9/10 - 2
11-64337190-G-C c.1449G>C p.L483= Synonymous 9/10 - 3
11-64337190-G-T c.1449G>T p.L483= Synonymous 9/10 - 2
11-64337192-T-G c.1451T>G p.M484R Missense 9/10 - 1
11-64337196-C-A c.1455C>A p.S485R Missense 9/10 - 1
11-64337198-G-A c.1457G>A p.R486H Missense 9/10 - 4
11-64337198-G-T c.1457G>T p.R486L Missense 9/10 - 2
11-64337200-C-T c.1459C>T p.Q487* Nonsense 9/10 - 1
11-64337208-G-A c.1467G>A p.L489= Synonymous 9/10 - 1
11-64337210-C-T c.1469C>T p.P490L Missense 9/10 - 1
11-64337212-C-G c.1471C>G p.L491V Missense 9/10 - 2
11-64337215-C-T c.1474C>T p.L492= Synonymous 9/10 - 2
11-64337217-G-A c.1476G>A p.L492= Synonymous 9/10 - 2
11-64337217-G-C c.1476G>C p.L492= Synonymous 9/10 - 2
11-64337217-G-T c.1476G>T p.L492= Synonymous 9/10 - 2
11-64337219-C-T c.1478C>T p.P493L Missense 9/10 - 1
11-64337224-C-G c.1483C>G p.L495V Missense 9/10 - 1
11-64337227-C-G c.1486C>G p.L496V Missense 9/10 - 2
11-64337227-C-T c.1486C>T p.L496F Missense 9/10 - 1
11-64337234-G-A c.1493G>A p.G498D Missense 9/10 - 1
11-64337235-C-T c.1494C>T p.G498= Synonymous 9/10 - 2
11-64337243-C-G c.1502C>G p.S501C Missense 9/10 - 1
11-64337243-C-T c.1502C>T p.S501F Missense 9/10 - 2
11-64337248-G-GA c.1507_1508insA p.A503Dfs*20 Frameshift 9/10 - 1
11-64337259-G-A c.1518G>A p.L506= Synonymous 9/10 - 1
11-64337261-T-A c.1520T>A p.V507D Missense 9/10 - 1
11-64337261-T-C c.1520T>C p.V507A Missense 9/10 - 1
11-64337274-C-T c.1533C>T p.F511= Synonymous 9/10 - 1
11-64337275-C-T c.1534C>T p.L512F Missense 9/10 - 4
11-64337277-C-T c.1536C>T p.L512= Synonymous 9/10 - 3
11-64337279-C-T c.1538C>T p.P513L Missense 9/10 - 4
11-64337280-G-A c.1539G>A p.P513= Synonymous 9/10 - 2
11-64337280-G-C c.1539G>C p.P513= Synonymous 9/10 - 1
11-64337280-G-T c.1539G>T p.P513= Synonymous 9/10 - 1
11-64337292-A-C c.1551A>C p.G517= Synonymous 9/10 - 1
11-64337292-A-G c.1551A>G p.G517= Synonymous 9/10 - 1
11-64337292-A-T c.1551A>T p.G517= Synonymous 9/10 - 1
11-64337296-C-A c.1555C>A p.P519T Missense 9/10 - 1
11-64337297-C-T c.1556C>T p.P519L Missense 9/10 - 1
11-64337298-G-A c.1557G>A p.P519= Synonymous 9/10 - 5
11-64337298-G-C c.1557G>C p.P519= Synonymous 9/10 - 1
11-64337298-G-T c.1557G>T p.P519= Synonymous 9/10 - 2
11-64337302-C-T c.1561C>T p.P521S Missense 9/10 - 2
11-64337304-T-A c.1563T>A p.P521= Synonymous 9/10 - 1
11-64337309-C-A c.1568C>A p.T523N Missense 9/10 - 1
11-64337309-C-G c.1568C>G p.T523S Missense 9/10 - 1
11-64337310-T-A c.1569T>A p.T523= Synonymous 9/10 - 1
11-64337310-T-C c.1569T>C p.T523= Synonymous 9/10 - 1
11-64337310-T-G c.1569T>G p.T523= Synonymous 9/10 - 1
11-64337313-C-A c.1572C>A p.I524= Synonymous 9/10 - 1
11-64337313-C-T c.1572C>T p.I524= Synonymous 9/10 - 1
11-64337320-C-A c.1579C>A p.L527M Missense 9/10 - 3
11-64337324-A-C c.1583A>C p.E528A Missense 9/10 - 1
11-64337327-G-A c.1586G>A p.S529N Missense 9/10 - 1
11-64337331-G-C c.1589+1G>C - IntronicSNV - 9/9 1
11-64337330-AGT-A c.1589+2_1589+3del - IntronicDeletion - 9/9 1
11-64338228-A-G c.1590-223A>G - IntronicSNV - 9/9 2
11-64338228-A-T c.1590-223A>T - IntronicSNV - 9/9 2
11-64338350-T-C c.1590-101T>C - IntronicSNV - 9/9 1
11-64338451-G-A c.1590G>A p.Q530= Synonymous 10/10 - 2
11-64338452-A-G c.1591A>G p.K531E Missense 10/10 - 1
11-64338456-C-T c.1595C>T p.S532L Missense 10/10 - 7
11-64338458-A-G c.1597A>G p.T533A Missense 10/10 - 1
11-64338459-C-G c.1598C>G p.T533R Missense 10/10 - 1
11-64338471-G-A c.1610G>A p.G537D Missense 10/10 - 3
11-64338476-C-A c.1615C>A p.R539= Synonymous 10/10 - 2
11-64338476-C-T c.1615C>T p.R539W Missense 10/10 - 1
11-64338477-G-A c.1616G>A p.R539Q Missense 10/10 - 2
11-64338482-G-C c.1621G>C p.E541Q Missense 10/10 - 2
11-64338484-G-A c.1623G>A p.E541= Synonymous 10/10 - 2
11-64338485-G-A c.1624G>A p.A542T Missense 10/10 - 1
11-64338485-G-T c.1624G>T p.A542S Missense 10/10 - 1
11-64338486-C-T c.1625C>T p.A542V Missense 10/10 - 2
11-64338488-G-A c.1627G>A p.V543I Missense 10/10 - 2
11-64338488-G-T c.1627G>T p.V543F Missense 10/10 - 1
11-64338495-T-C c.1634T>C p.V545A Missense 10/10 - 2
11-64338497-G-A c.1636G>A p.E546K Missense 10/10 - 3
11-64338507-C-T c.1646C>T p.S549L Missense 10/10 - 3
11-64338508-G-A c.1647G>A p.S549= Synonymous 10/10 - 5
11-64338508-G-C c.1647G>C p.S549= Synonymous 10/10 - 2
11-64338508-G-T c.1647G>T p.S549= Synonymous 10/10 - 2
11-64338514-G-T c.1653G>T p.*551Yext*89 Missense 10/10 - 1
11-64338586-G-A c.*72G>A - 3-UTRSNV 10/10 - 1