SECISBP2

SECISBP2 SECIS binding protein 2

Annotation transcript: NM_024077.5

841 unique variant annotations were identified in 333 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
9-91933445-G-A c.-47G>A - 5-UTRSNV 1/17 - 3
9-91933445-G-C c.-47G>C - 5-UTRSNV 1/17 - 3
9-91933445-G-T c.-47G>T - 5-UTRSNV 1/17 - 3
9-91933470-G-A c.-22G>A - 5-UTRSNV 1/17 - 1
9-91933470-G-C c.-22G>C - 5-UTRSNV 1/17 - 1
9-91933496-C-A c.5C>A p.A2E Missense 1/17 - 1
9-91933498-T-G c.7T>G p.S3A Missense 1/17 - 1
9-91933517-CC-AA c.26_27delinsAA p.P9Q Missense 1/17 - 1
9-91933520-A-C c.29A>C p.E10A Missense 1/17 - 1
9-91933525-G-A c.34G>A p.E12K Missense 1/17 - 2
9-91934568-G-A c.38G>A p.G13D Missense 2/17 - 1
9-91934573-A-G c.43A>G p.K15E Missense 2/17 - 1
9-91934574-A-G c.44A>G p.K15R Missense 2/17 - 2
9-91934575-G-A c.45G>A p.K15= Synonymous 2/17 - 1
9-91934582-G-A c.52G>A p.A18T Missense 2/17 - 1
9-91934582-GCA-TTT c.52_54delinsTTT p.A18F Missense 2/17 - 1
9-91934583-C-T c.53C>T p.A18V Missense 2/17 - 3
9-91934585-G-A c.55G>A p.D19N Missense 2/17 - 1
9-91934588-G-A c.58G>A p.V20I Missense 2/17 - 1
9-91934589-T-C c.59T>C p.V20A Missense 2/17 - 1
9-91934600-G-A c.70G>A p.V24I Missense 2/17 - 1
9-91934604-C-T c.74C>T p.P25L Missense 2/17 - 2
9-91934606-A-G c.76A>G p.R26G Missense 2/17 - 2
9-91934609-T-G c.79T>G p.F27V Missense 2/17 - 1
9-91934608-A-AT c.81dup p.A28Cfs*40 Frameshift 2/17 - 1
9-91934612-GC-CA c.82_83delinsCA p.A28H Missense 2/17 - 1
9-91934612-GCC-AAG c.82_84delinsAAG p.A28K Missense 2/17 - 1
9-91934613-C-T c.83C>T p.A28V Missense 2/17 - 1
9-91934618-CTC-GAG c.88_90inv p.L30E Missense 2/17 - 6
9-91934619-T-A c.89T>A p.L30H Missense 2/17 - 1
9-91934620-C-A c.90C>A p.L30= Synonymous 2/17 - 1
9-91934620-C-G c.90C>G p.L30= Synonymous 2/17 - 1
9-91934620-C-T c.90C>T p.L30= Synonymous 2/17 - 1
9-91934622-A-G c.92A>G p.N31S Missense 2/17 - 7
9-91934624-G-A c.94G>A p.V32M Missense 2/17 - 1
9-91934624-GTG-TTT c.94_96delinsTTT p.V32F Missense 2/17 - 1
9-91934627-G-A c.97G>A p.A33T Missense 2/17 - 1
9-91934630-T-C c.100T>C p.W34R Missense 2/17 - 1
9-91934633-TT-GC c.103_104delinsGC p.L35A Missense 2/17 - 1
9-91934635-A-G c.105A>G p.L35= Synonymous 2/17 - 1
9-91934636-G-C c.106G>C p.E36Q Missense 2/17 - 1
9-91934637-A-G c.107A>G p.E36G Missense 2/17 - 1
9-91934638-G-A c.108G>A p.E36= Synonymous 2/17 - 1
9-91934641-C-A c.111C>A p.S37= Synonymous 2/17 - 1
9-91934641-C-T c.111C>T p.S37= Synonymous 2/17 - 1
9-91934642-T-G c.112T>G p.S38A Missense 2/17 - 1
9-91934644-A-T c.114A>T p.S38= Synonymous 2/17 - 1
9-91934649-CA-AC c.119_120delinsAC p.A40D Missense 2/17 - 1
9-91934652-G-A c.122G>A p.C41Y Missense 2/17 - 1
9-91934657-T-C c.127T>C p.F43L Missense 2/17 - 1
9-91934659-C-T c.129C>T p.F43= Synonymous 2/17 - 1
9-91934667-C-G c.137C>G p.S46C Missense 2/17 - 1
9-91934667-C-T c.137C>T p.S46F Missense 2/17 - 1
9-91934670-C-A c.140C>A p.A47E Missense 2/17 - 1
9-91934670-C-T c.140C>T p.A47V Missense 2/17 - 2
9-91934672-GCC-TAA c.142_144delinsTAA p.A48* Nonsense 2/17 - 1
9-91934673-C-T c.143C>T p.A48V Missense 2/17 - 1
9-91934674-C-A c.144C>A p.A48= Synonymous 2/17 - 1
9-91934675-A-G c.145A>G p.T49A Missense 2/17 - 1
9-91934682-A-G c.152A>G p.Y51C Missense 2/17 - 1
9-91934685-C-T c.155C>T p.P52L Missense 2/17 - 3
9-91934686-G-A c.156G>A p.P52= Synonymous 2/17 - 1
9-91934686-G-C c.156G>C p.P52= Synonymous 2/17 - 1
9-91934686-G-T c.156G>T p.P52= Synonymous 2/17 - 1
9-91934687-T-C c.157T>C p.F53L Missense 2/17 - 1
9-91934688-T-C c.158T>C p.F53S Missense 2/17 - 1
9-91934693-C-T c.163C>T p.Q55* Nonsense 2/17 - 1
9-91934695-G-A c.165G>A p.Q55= Synonymous 2/17 - 1
9-91934698-A-G c.168A>G p.E56= Synonymous 2/17 - 1
9-91934703-C-A c.173C>A p.P58Q Missense 2/17 - 2
9-91934704-A-G c.174A>G p.P58= Synonymous 2/17 - 1
9-91934707-G-C c.177G>C p.V59= Synonymous 2/17 - 1
9-91934711-G-C c.181G>C p.E61Q Missense 2/17 - 1
9-91934775-T-C c.182+63T>C - IntronicSNV - 2/16 1
9-91934787-A-G c.182+75A>G - IntronicSNV - 2/16 4
9-91934787-A-T c.182+75A>T - IntronicSNV - 2/16 1
9-91934812-AGAT-A c.182+106_182+108del - IntronicDeletion - 2/16 1
9-91938504-G-C c.183-1838G>C - IntronicSNV - 2/16 1
9-91939784-A-C c.183-558A>C - IntronicSNV - 2/16 1
9-91940351-A-C c.192A>C p.I64= Synonymous 3/17 - 2
9-91940351-A-T c.192A>T p.I64= Synonymous 3/17 - 2
9-91940355-A-G c.196A>G p.T66A Missense 3/17 - 2
9-91940356-C-T c.197C>T p.T66I Missense 3/17 - 1
9-91940357-T-C c.198T>C p.T66= Synonymous 3/17 - 1
9-91940380-C-T c.221C>T p.S74L Missense 3/17 - 1
9-91940389-C-A c.230C>A p.P77Q Missense 3/17 - 1
9-91940391-C-T c.232C>T p.P78S Missense 3/17 - 1
9-91940394-C-T c.235C>T p.Q79* Nonsense 3/17 - 11
9-91940404-C-T c.245C>T p.S82F Missense 3/17 - 1
9-91940416-C-T c.257C>T p.T86I Missense 3/17 - 1
9-91940424-C-T c.265C>T p.P89S Missense 3/17 - 1
9-91940425-C-T c.266C>T p.P89L Missense 3/17 - 1
9-91940428-A-G c.269A>G p.Y90C Missense 3/17 - 2
9-91940430-G-A c.271G>A p.A91T Missense 3/17 - 2
9-91940430-G-T c.271G>T p.A91S Missense 3/17 - 3
9-91940432-C-A c.273C>A p.A91= Synonymous 3/17 - 1
9-91940432-C-G c.273C>G p.A91= Synonymous 3/17 - 1
9-91940432-C-T c.273C>T p.A91= Synonymous 3/17 - 1
9-91940436-T-A c.277T>A p.S93T Missense 3/17 - 2
9-91940437-C-G c.278C>G p.S93C Missense 3/17 - 2
9-91940437-C-T c.278C>T p.S93F Missense 3/17 - 2
9-91940439-C-A c.280C>A p.P94T Missense 3/17 - 2
9-91940440-C-T c.281C>T p.P94L Missense 3/17 - 3
9-91940440-CT-C c.283del p.Y95Ifs*31 Frameshift 3/17 - 2
9-91940442-TA-AT c.283_284delinsAT p.Y95I Missense 3/17 - 1
9-91940446-C-A c.287C>A p.T96N Missense 3/17 - 2
9-91940445-ACCCTTGACT-A c.289_297del p.L97_S99del InFrameDeletion 3/17 - 1
9-91940451-G-A c.292G>A p.D98N Missense 3/17 - 1
9-91940454-TC-CT c.295_296delinsCT p.S99L Missense 3/17 - 1
9-91940454-T-TG c.295_296insG p.S99Cfs*16 Frameshift 3/17 - 1
9-91940456-C-T c.297C>T p.S99= Synonymous 3/17 - 1
9-91940461-A-C c.302A>C p.Q101P Missense 3/17 - 3
9-91940462-G-C c.303G>C p.Q101H Missense 3/17 - 1
9-91940462-G-T c.303G>T p.Q101H Missense 3/17 - 1
9-91940473-C-A c.314C>A p.S105* Nonsense 3/17 - 1
9-91940473-CA-GT c.314_315delinsGT p.S105C Missense 3/17 - 1
9-91940473-C-G c.314C>G p.S105* Nonsense 3/17 - 1
9-91940479-C-T c.320C>T p.P107L Missense 3/17 - 1
9-91940484-T-A c.325T>A p.S109T Missense 3/17 - 3
9-91940486-C-A c.327C>A p.S109= Synonymous 3/17 - 1
9-91940486-C-G c.327C>G p.S109= Synonymous 3/17 - 1
9-91940486-C-T c.327C>T p.S109= Synonymous 3/17 - 1
9-91940487-C-A c.328C>A p.Q110K Missense 3/17 - 1
9-91940487-C-T c.328C>T p.Q110* Nonsense 3/17 - 1
9-91940488-A-G c.329A>G p.Q110R Missense 3/17 - 3
9-91940489-G-C c.330G>C p.Q110H Missense 3/17 - 3
9-91940489-G-T c.330G>T p.Q110H Missense 3/17 - 2
9-91940491-A-G c.332A>G p.Y111C Missense 3/17 - 1
9-91940492-T-C c.333T>C p.Y111= Synonymous 3/17 - 1
9-91940494-T-C c.335T>C p.L112P Missense 3/17 - 1
9-91940496-T-C c.337T>C p.Y113H Missense 3/17 - 1
9-91940500-A-G c.341A>G p.N114S Missense 3/17 - 1
9-91940507-C-T c.348C>T p.P116= Synonymous 3/17 - 2
9-91940512-G-A c.353G>A p.C118Y Missense 3/17 - 1
9-91940517-C-T c.358C>T p.R120* Nonsense 3/17 - 8
9-91940518-G-A c.359G>A p.R120Q Missense 3/17 - 3
9-91940518-G-T c.359G>T p.R120L Missense 3/17 - 1
9-91940520-G-A c.361G>A p.G121S Missense 3/17 - 1
9-91940523-T-G c.364T>G p.F122V Missense 3/17 - 2
9-91940524-T-C c.365T>C p.F122S Missense 3/17 - 1
9-91940529-A-C c.370A>C p.T124P Missense 3/17 - 1
9-91940529-A-G c.370A>G p.T124A Missense 3/17 - 1
9-91940532-G-A c.373G>A p.V125M Missense 3/17 - 1
9-91940535-A-T c.376A>T p.K126* Nonsense 3/17 - 2
9-91940537-G-T c.378G>T p.K126N Missense 3/17 - 1
9-91940541-C-T c.382C>T p.R128* Nonsense 3/17 - 24
9-91940542-G-A c.383G>A p.R128Q Missense 3/17 - 4
9-91940542-G-T c.383G>T p.R128L Missense 3/17 - 4
9-91940543-A-G c.384A>G p.R128= Synonymous 3/17 - 1
9-91940544-A-T c.385A>T p.N129Y Missense 3/17 - 1
9-91940549-G-C c.390G>C p.E130D Missense 3/17 - 1
9-91940549-G-T c.390G>T p.E130D Missense 3/17 - 1
9-91940551-A-G c.392A>G p.N131S Missense 3/17 - 1
9-91940559-C-T c.400C>T p.P134S Missense 3/17 - 1
9-91940566-C-T c.407C>T p.P136L Missense 3/17 - 2
9-91940568-C-A c.409C>A p.Q137K Missense 3/17 - 1
9-91940569-A-G c.410A>G p.Q137R Missense 3/17 - 1
9-91940571-G-A c.412G>A p.E138K Missense 3/17 - 1
9-91940580-G-T c.421G>T p.A141S Missense 3/17 - 1
9-91940581-C-T c.422C>T p.A141V Missense 3/17 - 1
9-91940586-T-C c.427T>C p.F143L Missense 3/17 - 1
9-91940588-T-A c.429T>A p.F143L Missense 3/17 - 1
9-91940588-T-G c.429T>G p.F143L Missense 3/17 - 1
9-91940587-T-C c.428T>C p.F143S Missense 3/17 - 1
9-91940743-A-G c.433-69A>G - IntronicSNV - 3/16 2
9-91940819-CC-TG c.440_441delinsTG p.T147M Missense 4/17 - 1
9-91940823-T-G c.444T>G p.Y148* Nonsense 4/17 - 1
9-91940824-G-A c.445G>A p.D149N Missense 4/17 - 1
9-91940832-A-AT c.453_454insT p.K152* Nonsense 4/17 - 1
9-91940829-G-GA c.457dup p.T153Nfs*3 Frameshift 4/17 - 1
9-91940836-AACG-A c.457_459del p.T153del InFrameDeletion 4/17 - 1
9-91940838-G-A c.459G>A p.T153= Synonymous 4/17 - 3
9-91940838-G-C c.459G>C p.T153= Synonymous 4/17 - 1
9-91940838-G-T c.459G>T p.T153= Synonymous 4/17 - 2
9-91940839-T-G c.460T>G p.Y154D Missense 4/17 - 1
9-91940840-A-G c.461A>G p.Y154C Missense 4/17 - 3
9-91940846-A-G c.467A>G p.Q156R Missense 4/17 - 1
9-91940847-G-A c.468G>A p.Q156= Synonymous 4/17 - 1
9-91940852-A-C c.473A>C p.K158T Missense 4/17 - 1
9-91940854-T-C c.475T>C p.F159L Missense 4/17 - 2
9-91940856-T-A c.477T>A p.F159L Missense 4/17 - 1
9-91940856-T-G c.477T>G p.F159L Missense 4/17 - 1
9-91940861-G-C c.482G>C p.S161T Missense 4/17 - 1
9-91940866-AG-CA c.487_488delinsCA p.R163Q Missense 4/17 - 1
9-91940869-G-A c.490G>A p.A164T Missense 4/17 - 1
9-91940872-G-A c.493G>A p.D165N Missense 4/17 - 1
9-91940872-G-T c.493G>T p.D165Y Missense 4/17 - 2
9-91940876-G-C c.497G>C p.G166A Missense 4/17 - 1
9-91940880-T-A c.501T>A p.T167= Synonymous 4/17 - 1
9-91940880-T-C c.501T>C p.T167= Synonymous 4/17 - 1
9-91940880-T-G c.501T>G p.T167= Synonymous 4/17 - 1
9-91940881-A-C c.502A>C p.I168L Missense 4/17 - 1
9-91940881-A-T c.502A>T p.I168L Missense 4/17 - 1
9-91940885-C-A c.506C>A p.S169* Nonsense 4/17 - 1
9-91940885-C-G c.506C>G p.S169* Nonsense 4/17 - 1
9-91940893-A-G c.514A>G p.I172V Missense 4/17 - 2
9-91940904-T-A c.525T>A p.A175= Synonymous 4/17 - 1
9-91940904-T-C c.525T>C p.A175= Synonymous 4/17 - 1
9-91940904-T-G c.525T>G p.A175= Synonymous 4/17 - 1
9-91940907-A-C c.528A>C p.R176S Missense 4/17 - 1
9-91940912-CA-TT c.533_534delinsTT p.S178F Missense 4/17 - 1
9-91940931-C-T c.552C>T p.Y184= Synonymous 4/17 - 1
9-91940932-G-A c.553G>A p.A185T Missense 4/17 - 2
9-91940937-G-A c.558G>A p.E186= Synonymous 4/17 - 3
9-91940938-A-C c.559A>C p.N187H Missense 4/17 - 1
9-91940939-A-G c.560A>G p.N187S Missense 4/17 - 2
9-91940951-CA-TT c.572_573delinsTT p.S191F Missense 4/17 - 1
9-91940953-G-A c.574G>A p.D192N Missense 4/17 - 1
9-91941019-A-G c.574+66A>G - IntronicSNV - 4/16 1
9-91943569-T-G c.575-6T>G - IntronicSNV - 4/16 1
9-91943577-G-A c.577G>A p.G193S Missense 5/17 - 1
9-91943578-G-A c.578G>A p.G193D Missense 5/17 - 1
9-91943581-A-G c.581A>G p.Y194C Missense 5/17 - 1
9-91943589-C-A c.589C>A p.R197= Synonymous 5/17 - 1
9-91943589-C-T c.589C>T p.R197* Nonsense 5/17 - 5
9-91943591-A-C c.591A>C p.R197= Synonymous 5/17 - 1
9-91943591-A-G c.591A>G p.R197= Synonymous 5/17 - 1
9-91943591-A-T c.591A>T p.R197= Synonymous 5/17 - 1
9-91943590-G-A c.590G>A p.R197Q Missense 5/17 - 1
9-91943590-G-C c.590G>C p.R197P Missense 5/17 - 1
9-91943593-C-T c.593C>T p.T198I Missense 5/17 - 1
9-91943595-G-T c.595G>T p.D199Y Missense 5/17 - 4
9-91943597-C-A c.597C>A p.D199E Missense 5/17 - 1
9-91943604-TC-AA c.604_605delinsAA p.S202N Missense 5/17 - 1
9-91943605-C-G c.605C>G p.S202C Missense 5/17 - 1
9-91943605-C-T c.605C>T p.S202F Missense 5/17 - 4
9-91943612-C-G c.612C>G p.I204M Missense 5/17 - 2
9-91943612-C-T c.612C>T p.I204= Synonymous 5/17 - 2
9-91943614-T-TA c.614_615insA p.A206Cfs*10 Frameshift 5/17 - 1
9-91943616-G-A c.616G>A p.A206T Missense 5/17 - 1
9-91943617-C-T c.617C>T p.A206V Missense 5/17 - 1
9-91943617-C-CA c.623dup p.N208Kfs*8 Frameshift 5/17 - 1
9-91943625-G-C c.625G>C p.V209L Missense 5/17 - 1
9-91943628-T-C c.628T>C p.S210P Missense 5/17 - 1
9-91943629-C-A c.629C>A p.S210Y Missense 5/17 - 1
9-91943629-C-T c.629C>T p.S210F Missense 5/17 - 1
9-91943632-C-T c.632C>T p.T211I Missense 5/17 - 1
9-91943638-A-C c.638A>C p.K213T Missense 5/17 - 1
9-91943640-C-T c.640C>T p.P214S Missense 5/17 - 1
9-91943641-C-T c.641C>T p.P214L Missense 5/17 - 1
9-91943646-T-G c.646T>G p.F216V Missense 5/17 - 3
9-91943652-T-C c.652T>C p.F218L Missense 5/17 - 1
9-91943654-T-A c.654T>A p.F218L Missense 5/17 - 1
9-91943654-T-G c.654T>G p.F218L Missense 5/17 - 1
9-91943656-C-G c.656C>G p.T219S Missense 5/17 - 1
9-91943659-C-T c.659C>T p.T220I Missense 5/17 - 1
9-91943666-CT-C c.669del p.P224Lfs*32 Frameshift 5/17 - 5
9-91943669-T-C c.669T>C p.F223= Synonymous 5/17 - 1
9-91943670-C-A c.670C>A p.P224T Missense 5/17 - 1
9-91943673-G-A c.673G>A p.E225K Missense 5/17 - 1
9-91943682-G-A c.682G>A p.G228S Missense 5/17 - 1
9-91943685-G-T c.685G>T p.A229S Missense 5/17 - 1
9-91943690-G-A c.690G>A p.E230= Synonymous 5/17 - 2
9-91943698-T-C c.698T>C p.M233T Missense 5/17 - 1
9-91943699-G-A c.699G>A p.M233I Missense 5/17 - 1
9-91943711-G-GT c.711_712insT p.K238* Nonsense 5/17 - 1
9-91943712-A-G c.712A>G p.K238E Missense 5/17 - 1
9-91943726-G-C c.726G>C p.W242C Missense 5/17 - 2
9-91943726-G-T c.726G>T p.W242C Missense 5/17 - 4
9-91943731-C-T c.731C>T p.P244L Missense 5/17 - 2
9-91943733-G-C c.733G>C p.V245L Missense 5/17 - 1
9-91943739-TC-CT c.739_740delinsCT p.S247L Missense 5/17 - 1
9-91943740-C-G c.740C>G p.S247C Missense 5/17 - 1
9-91943740-C-T c.740C>T p.S247F Missense 5/17 - 1
9-91943740-TC-T c.740del p.S247Lfs*9 Frameshift 5/17 - 1
9-91943751-G-A c.751G>A p.D251N Missense 5/17 - 1
9-91943753-ACATTTC-A c.753_758del p.I252_S253del InFrameDeletion 5/17 - 1
9-91943756-T-C c.756T>C p.I252= Synonymous 5/17 - 1
9-91943758-C-A c.758C>A p.S253Y Missense 5/17 - 2
9-91943755-TTTCTC-T c.760_764del p.L254Kfs*14 Frameshift 5/17 - 1
9-91943763-C-T c.763C>T p.L255= Synonymous 5/17 - 2
9-91943764-T-G c.764T>G p.L255R Missense 5/17 - 1
9-91943766-A-C c.766A>C p.R256= Synonymous 5/17 - 1
9-91943768-A-G c.768A>G p.R256= Synonymous 5/17 - 3
9-91943769-GA-AT c.769_770delinsAT p.E257I Missense 5/17 - 1
9-91943769-G-C c.769G>C p.E257Q Missense 5/17 - 3
9-91943767-GAGAAGT-G c.770_775del p.E257_V258del InFrameDeletion 5/17 - 1
9-91943788-C-T c.788C>T p.A263V Missense 5/17 - 2
9-91943789-A-C c.789A>C p.A263= Synonymous 5/17 - 1
9-91943789-A-G c.789A>G p.A263= Synonymous 5/17 - 1
9-91943789-A-T c.789A>T p.A263= Synonymous 5/17 - 3
9-91943797-C-T c.797C>T p.S266L Missense 5/17 - 1
9-91943797-C-CA c.800dup p.E269* SpliceDonorInsertion 5/17 - 4
9-91943801-G-A c.801G>A p.K267= Synonymous 5/17 - 1
9-91944374-CT-C c.801+582del - IntronicDeletion - 5/16 1
9-91947823-G-A c.802G>A p.G268S Missense 6/17 - 1
9-91947824-G-A c.803G>A p.G268D Missense 6/17 - 1
9-91947825-T-TTAA c.804_805insTAA p.G268_E269ins* InFrameInsertion 6/17 - 1
9-91947829-A-G c.808A>G p.I270V Missense 6/17 - 1
9-91947830-T-G c.809T>G p.I270R Missense 6/17 - 1
9-91947834-G-A c.813G>A p.V271= Synonymous 6/17 - 1
9-91947834-G-C c.813G>C p.V271= Synonymous 6/17 - 1
9-91947834-G-T c.813G>T p.V271= Synonymous 6/17 - 1
9-91947837-G-A c.816G>A p.V272= Synonymous 6/17 - 1
9-91947837-G-C c.816G>C p.V272= Synonymous 6/17 - 1
9-91947837-G-T c.816G>T p.V272= Synonymous 6/17 - 1
9-91947841-A-G c.820A>G p.N274D Missense 6/17 - 1
9-91947837-G-GA c.821dup p.N274Kfs*2 Frameshift 6/17 - 1
9-91947842-A-G c.821A>G p.N274S Missense 6/17 - 1
9-91947846-C-A c.825C>A p.N275K Missense 6/17 - 1
9-91947846-C-T c.825C>T p.N275= Synonymous 6/17 - 1
9-91947847-CC-TA c.826_827delinsTA p.P276* Nonsense 6/17 - 1
9-91947847-C-T c.826C>T p.P276S Missense 6/17 - 1
9-91947848-C-G c.827C>G p.P276R Missense 6/17 - 1
9-91947848-C-T c.827C>T p.P276L Missense 6/17 - 2
9-91947859-G-A c.838G>A p.V280I Missense 6/17 - 2
9-91947860-T-A c.839T>A p.V280E Missense 6/17 - 2
9-91947863-C-T c.842C>T p.T281I Missense 6/17 - 1
9-91947865-G-C c.844G>C p.A282P Missense 6/17 - 1
9-91947873-C-T c.852C>T p.A284= Synonymous 6/17 - 2
9-91947874-G-A c.853G>A p.A285T Missense 6/17 - 3
9-91947885-T-A c.864T>A p.S288= Synonymous 6/17 - 1
9-91947885-T-C c.864T>C p.S288= Synonymous 6/17 - 1
9-91947885-T-G c.864T>G p.S288= Synonymous 6/17 - 1
9-91947891-A-C c.870A>C p.S290= Synonymous 6/17 - 1
9-91947891-A-G c.870A>G p.S290= Synonymous 6/17 - 1
9-91947893-G-A c.872G>A p.C291Y Missense 6/17 - 1
9-91947900-A-C c.879A>C p.R293S Missense 6/17 - 1
9-91949308-A-G c.881-129A>G - IntronicSNV - 6/16 1
9-91949308-A-T c.881-129A>T - IntronicSNV - 6/16 1
9-91949444-T-A c.888T>A p.S296= Synonymous 7/17 - 1
9-91949444-T-C c.888T>C p.S296= Synonymous 7/17 - 1
9-91949444-T-G c.888T>G p.S296= Synonymous 7/17 - 1
9-91949450-A-C c.894A>C p.T298= Synonymous 7/17 - 1
9-91949450-A-G c.894A>G p.T298= Synonymous 7/17 - 1
9-91949450-A-T c.894A>T p.T298= Synonymous 7/17 - 1
9-91949453-A-G c.897A>G p.P299= Synonymous 7/17 - 1
9-91949454-A-G c.898A>G p.M300V Missense 7/17 - 1
9-91949455-T-A c.899T>A p.M300K Missense 7/17 - 1
9-91949466-G-A c.910G>A p.V304I Missense 7/17 - 1
9-91949466-TG-T c.910del p.V304Ffs*19 Frameshift 7/17 - 1
9-91949467-T-G c.911T>G p.V304G Missense 7/17 - 1
9-91949469-C-T c.913C>T p.R305* Nonsense 7/17 - 2
9-91949472-C-A c.916C>A p.Q306K Missense 7/17 - 1
9-91949472-C-G c.916C>G p.Q306E Missense 7/17 - 2
9-91949475-A-G c.919A>G p.T307A Missense 7/17 - 1
9-91949479-T-C c.923T>C p.L308S Missense 7/17 - 1
9-91949484-A-G c.928A>G p.T310A Missense 7/17 - 1
9-91949488-A-T c.932A>T p.E311V Missense 7/17 - 1
9-91949501-C-T c.945C>T p.A315= Synonymous 7/17 - 1
9-91949502-C-T c.946C>T p.P316S Missense 7/17 - 1
9-91949506-A-G c.950A>G p.K317R Missense 7/17 - 1
9-91949508-A-G c.952A>G p.N318D Missense 7/17 - 1
9-91949504-TA-T c.953del p.N318Mfs*5 Frameshift 7/17 - 1
9-91949509-A-ATATT c.954_955insATTT p.V319Ifs*18 Frameshift 7/17 - 1
9-91949513-T-G c.957T>G p.V319= Synonymous 7/17 - 1
9-91949518-C-A c.962C>A p.S321Y Missense 7/17 - 2
9-91949520-A-C c.964A>C p.M322L Missense 7/17 - 1
9-91949520-A-G c.964A>G p.M322V Missense 7/17 - 1
9-91949521-T-C c.965T>C p.M322T Missense 7/17 - 1
9-91949523-ATAAACT-A c.972_977del p.N324_L325del InFrameDeletion 7/17 - 1
9-91949532-A-G c.976A>G p.K326E Missense 7/17 - 2
9-91949533-A-G c.977A>G p.K326R Missense 7/17 - 2
9-91949535-A-G c.979A>G p.T327A Missense 7/17 - 3
9-91949536-C-T c.980C>T p.T327I Missense 7/17 - 1
9-91949545-C-T c.989C>T p.S330L Missense 7/17 - 2
9-91949551-C-T c.995C>T p.A332V Missense 7/17 - 3
9-91949555-T-A c.999T>A p.D333E Missense 7/17 - 1
9-91949555-T-C c.999T>C p.D333= Synonymous 7/17 - 1
9-91949555-T-G c.999T>G p.D333E Missense 7/17 - 1
9-91949556-C-T c.1000C>T p.P334S Missense 7/17 - 1
9-91949559-A-G c.1003A>G p.K335E Missense 7/17 - 1
9-91949565-G-T c.1009G>T p.V337F Missense 7/17 - 1
9-91949568-A-G c.1012A>G p.S338G Missense 7/17 - 1
9-91949568-AGT-TGA c.1012_1014delinsTGA p.S338* Nonsense 7/17 - 1
9-91949574-C-A c.1018C>A p.P340T Missense 7/17 - 1
9-91949576-A-C c.1020A>C p.P340= Synonymous 7/17 - 1
9-91949576-A-G c.1020A>G p.P340= Synonymous 7/17 - 1
9-91949576-A-T c.1020A>T p.P340= Synonymous 7/17 - 1
9-91949581-C-A c.1025C>A p.S342Y Missense 7/17 - 1
9-91949587-C-T c.1031C>T p.A344V Missense 7/17 - 1
9-91949589-T-G c.1033T>G p.L345V Missense 7/17 - 2
9-91949591-A-G c.1035A>G p.L345= Synonymous 7/17 - 1
9-91949593-C-T c.1037C>T p.S346F Missense 7/17 - 3
9-91949596-C-T c.1040C>T p.S347L Missense 7/17 - 2
9-91949597-G-A c.1041G>A p.S347= Synonymous 7/17 - 1
9-91949597-G-C c.1041G>C p.S347= Synonymous 7/17 - 1
9-91949601-C-A c.1045C>A p.P349T Missense 7/17 - 1
9-91949601-C-T c.1045C>T p.P349S Missense 7/17 - 6
9-91949602-C-T c.1046C>T p.P349L Missense 7/17 - 4
9-91949605-C-T c.1049C>T p.S350F Missense 7/17 - 1
9-91949608-A-G c.1052A>G p.Y351C Missense 7/17 - 1
9-91949609-C-CA c.1055dup p.N352Kfs*14 Frameshift 7/17 - 1
9-91949625-A-G c.1069A>G p.I357V Missense 7/17 - 1
9-91949628-A-G c.1072A>G p.I358V Missense 7/17 - 1
9-91949634-C-G c.1078C>G p.P360A Missense 7/17 - 1
9-91949637-A-C c.1081A>C p.T361P Missense 7/17 - 1
9-91949643-A-G c.1087A>G p.K363E Missense 7/17 - 1
9-91949645-G-A c.1089G>A p.K363= Synonymous 7/17 - 1
9-91951297-CT-C c.1089+1662del - IntronicDeletion - 7/16 1
9-91953252-T-C c.1090-121T>C - IntronicSNV - 7/16 1
9-91953323-C-G c.1090-50C>G - IntronicSNV - 7/16 2
9-91953323-C-T c.1090-50C>T - IntronicSNV - 7/16 2
9-91953376-A-T c.1093A>T p.K365* Nonsense 8/17 - 1
9-91953379-G-A c.1096G>A p.A366T Missense 8/17 - 1
9-91953384-A-C c.1101A>C p.S367= Synonymous 8/17 - 1
9-91953384-A-G c.1101A>G p.S367= Synonymous 8/17 - 1
9-91953384-CA-C c.1101del p.Q368Kfs*28 Frameshift 8/17 - 1
9-91953390-T-A c.1107T>A p.G369= Synonymous 8/17 - 1
9-91953390-T-C c.1107T>C p.G369= Synonymous 8/17 - 1
9-91953390-T-G c.1107T>G p.G369= Synonymous 8/17 - 2
9-91953394-G-T c.1111G>T p.D371Y Missense 8/17 - 1
9-91953395-A-T c.1112A>T p.D371V Missense 8/17 - 1
9-91953397-CTT-ATG c.1114_1116delinsATG p.L372M Missense 8/17 - 1
9-91953400-G-A c.1117G>A p.E373K Missense 8/17 - 1
9-91953402-A-C c.1119A>C p.E373D Missense 8/17 - 2
9-91953402-A-T c.1119A>T p.E373D Missense 8/17 - 3
9-91953403-C-A c.1120C>A p.Q374K Missense 8/17 - 1
9-91953403-C-T c.1120C>T p.Q374* Nonsense 8/17 - 1
9-91953406-A-C c.1123A>C p.N375H Missense 8/17 - 1
9-91953416-C-G c.1133C>G p.S378* Nonsense 8/17 - 1
9-91953416-C-T c.1133C>T p.S378L Missense 8/17 - 2
9-91953417-A-T c.1134A>T p.S378= Synonymous 8/17 - 1
9-91953423-G-A c.1140G>A p.K380= Synonymous 8/17 - 1
9-91953429-G-A c.1146G>A p.K382= Synonymous 8/17 - 2
9-91953429-G-GT c.1146_1147insT p.K383* Nonsense 8/17 - 1
9-91953435-G-C c.1152G>C p.K384N Missense 8/17 - 1
9-91953435-G-T c.1152G>T p.K384N Missense 8/17 - 2
9-91953446-C-G c.1163C>G p.S388C Missense 8/17 - 1
9-91953446-C-T c.1163C>T p.S388F Missense 8/17 - 2
9-91953452-C-T c.1169C>T p.S390L Missense 8/17 - 1
9-91953453-A-AT c.1170_1171insT p.K391* Nonsense 8/17 - 1
9-91953455-A-T c.1172A>T p.K391I Missense 8/17 - 1
9-91953458-A-G c.1175A>G p.Y392C Missense 8/17 - 1
9-91953464-T-C c.1181T>C p.V394A Missense 8/17 - 1
9-91953465-C-T c.1182C>T p.V394= Synonymous 8/17 - 1
9-91953470-C-T c.1187C>T p.T396I Missense 8/17 - 1
9-91953490-A-T c.1207A>T p.I403F Missense 8/17 - 1
9-91953516-C-G c.1212+21C>G - IntronicSNV - 8/16 1
9-91953516-C-T c.1212+21C>T - IntronicSNV - 8/16 1
9-91953524-G-A c.1212+29G>A - IntronicSNV - 8/16 1
9-91953672-T-A c.1212+177T>A - IntronicSNV - 8/16 1
9-91953672-T-C c.1212+177T>C - IntronicSNV - 8/16 1
9-91954655-C-T c.1213-124C>T - IntronicSNV - 8/16 1
9-91954745-A-G c.1213-34A>G - IntronicSNV - 8/16 1
9-91954784-C-T c.1218C>T p.A406= Synonymous 9/17 - 2
9-91954794-C-T c.1228C>T p.P410S Missense 9/17 - 7
9-91954795-C-A c.1229C>A p.P410H Missense 9/17 - 1
9-91954797-A-C c.1231A>C p.N411H Missense 9/17 - 1
9-91954798-A-G c.1232A>G p.N411S Missense 9/17 - 3
9-91954798-A-T c.1232A>T p.N411I Missense 9/17 - 1
9-91954810-C-T c.1244C>T p.A415V Missense 9/17 - 1
9-91954815-G-A c.1249G>A p.E417K Missense 9/17 - 1
9-91954819-G-T c.1253G>T p.R418I Missense 9/17 - 1
9-91954822-G-A c.1256G>A p.R419K Missense 9/17 - 1
9-91954828-G-A c.1262G>A p.R421K Missense 9/17 - 2
9-91954831-T-C c.1265T>C p.I422T Missense 9/17 - 1
9-91954833-G-A c.1267G>A p.E423K Missense 9/17 - 1
9-91954833-G-C c.1267G>C p.E423Q Missense 9/17 - 1
9-91954835-G-A c.1269G>A p.E423= Synonymous 9/17 - 2
9-91954840-C-T c.1274C>T p.P425L Missense 9/17 - 1
9-91954841-G-A c.1275G>A p.P425= Synonymous 9/17 - 1
9-91954841-G-GA c.1278dup p.F427Ifs*4 Frameshift 9/17 - 1
9-91954848-C-G c.1282C>G p.Q428E Missense 9/17 - 9
9-91954848-C-T c.1282C>T p.Q428* Nonsense 9/17 - 2
9-91954850-A-C c.1284A>C p.Q428H Missense 9/17 - 1
9-91954850-A-T c.1284A>T p.Q428H Missense 9/17 - 1
9-91954851-T-C c.1285T>C p.S429P Missense 9/17 - 1
9-91954856-G-A c.1290G>A p.K430= Synonymous 9/17 - 1
9-91954857-C-T c.1291C>T p.Q431* Nonsense 9/17 - 1
9-91954861-A-C c.1295A>C p.Q432P Missense 9/17 - 1
9-91956271-A-T c.1312A>T p.K438* Nonsense 10/17 - 13
9-91956280-G-A c.1321G>A p.V441I Missense 10/17 - 1
9-91956281-T-C c.1322T>C p.V441A Missense 10/17 - 2
9-91956290-G-A c.1331G>A p.S444N Missense 10/17 - 1
9-91956301-G-A c.1342G>A p.V448M Missense 10/17 - 1
9-91956301-G-C c.1342G>C p.V448L Missense 10/17 - 1
9-91956301-G-T c.1342G>T p.V448L Missense 10/17 - 1
9-91956304-C-T c.1345C>T p.Q449* Nonsense 10/17 - 1
9-91956306-G-C c.1347G>C p.Q449H Missense 10/17 - 1
9-91956318-G-A c.1359G>A p.G453= Synonymous 10/17 - 1
9-91956314-T-TG c.1361dup p.M455Hfs*105 Frameshift 10/17 - 2
9-91956322-A-G c.1363A>G p.M455V Missense 10/17 - 1
9-91956323-T-C c.1364T>C p.M455T Missense 10/17 - 1
9-91956326-T-C c.1367T>C p.L456P Missense 10/17 - 1
9-91956329-CA-TG c.1370_1371inv p.T457M Missense 10/17 - 1
9-91956329-C-T c.1370C>T p.T457I Missense 10/17 - 1
9-91956332-C-T c.1373C>T p.A458V Missense 10/17 - 3
9-91956334-C-T c.1375C>T p.L459= Synonymous 10/17 - 1
9-91956336-G-A c.1377G>A p.L459= Synonymous 10/17 - 1
9-91956336-G-C c.1377G>C p.L459= Synonymous 10/17 - 1
9-91956336-G-T c.1377G>T p.L459= Synonymous 10/17 - 1
9-91956340-A-G c.1381A>G p.K461E Missense 10/17 - 1
9-91956342-G-C c.1383G>C p.K461N Missense 10/17 - 1
9-91956347-A-G c.1388A>G p.Q463R Missense 10/17 - 5
9-91956350-A-G c.1391A>G p.H464R Missense 10/17 - 1
9-91956351-C-T c.1392C>T p.H464= Synonymous 10/17 - 2
9-91956356-A-T c.1397A>T p.Q466L Missense 10/17 - 1
9-91956359-A-C c.1400A>C p.H467P Missense 10/17 - 1
9-91956371-C-T c.1412C>T p.S471F Missense 10/17 - 2
9-91956375-C-T c.1416C>T p.S472= Synonymous 10/17 - 1
9-91956376-A-C c.1417A>C p.K473Q Missense 10/17 - 1
9-91956379-C-T c.1420C>T p.P474S Missense 10/17 - 1
9-91956380-C-T c.1421C>T p.P474L Missense 10/17 - 1
9-91956382-G-A c.1423G>A p.V475M Missense 10/17 - 1
9-91956391-T-C c.1432T>C p.S478P Missense 10/17 - 1
9-91956392-C-G c.1433C>G p.S478* Nonsense 10/17 - 1
9-91956393-A-C c.1434A>C p.S478= Synonymous 10/17 - 1
9-91956460-C-T c.1435+66C>T - IntronicSNV - 10/16 1
9-91960623-G-C c.1436-1174G>C - IntronicSNV - 10/16 1
9-91961797-T-G c.1436T>G p.V479G Missense 11/17 - 1
9-91961809-C-T c.1448C>T p.P483L Missense 11/17 - 1
9-91961814-C-A c.1453C>A p.L485I Missense 11/17 - 1
9-91961818-C-T c.1457C>T p.S486F Missense 11/17 - 4
9-91961822-A-G c.1461A>G p.K487= Synonymous 11/17 - 1
9-91961823-G-T c.1462G>T p.E488* Nonsense 11/17 - 1
9-91961830-C-T c.1469C>T p.A490V Missense 11/17 - 2
9-91961836-G-T c.1475G>T p.G492V Missense 11/17 - 1
9-91961840-G-C c.1479G>C p.E493D Missense 11/17 - 2
9-91961840-G-T c.1479G>T p.E493D Missense 11/17 - 1
9-91961842-G-C c.1481G>C p.R494T Missense 11/17 - 1
9-91961844-GGC-TGA c.1483_1485delinsTGA p.G495* Nonsense 11/17 - 1
9-91961848-G-A c.1487G>A p.R496H Missense 11/17 - 1
9-91961848-G-T c.1487G>T p.R496L Missense 11/17 - 1
9-91961850-C-A c.1489C>A p.R497S Missense 11/17 - 1
9-91961850-C-T c.1489C>T p.R497C Missense 11/17 - 2
9-91961851-G-T c.1490G>T p.R497L Missense 11/17 - 1
9-91961852-C-A c.1491C>A p.R497= Synonymous 11/17 - 2
9-91961852-C-G c.1491C>G p.R497= Synonymous 11/17 - 2
9-91961852-C-T c.1491C>T p.R497= Synonymous 11/17 - 2
9-91961856-A-C c.1495A>C p.S499R Missense 11/17 - 4
9-91961856-A-G c.1495A>G p.S499G Missense 11/17 - 1
9-91961857-G-A c.1496G>A p.S499N Missense 11/17 - 1
9-91961858-T-A c.1497T>A p.S499R Missense 11/17 - 2
9-91961858-T-G c.1497T>G p.S499R Missense 11/17 - 2
9-91961862-A-G c.1501A>G p.M501V Missense 11/17 - 1
9-91961867-G-C c.1506G>C p.K502N Missense 11/17 - 1
9-91961867-G-T c.1506G>T p.K502N Missense 11/17 - 1
9-91961870-C-A c.1509C>A p.T503= Synonymous 11/17 - 1
9-91961870-C-G c.1509C>G p.T503= Synonymous 11/17 - 1
9-91961870-C-T c.1509C>T p.T503= Synonymous 11/17 - 1
9-91961871-C-T c.1510C>T p.P504S Missense 11/17 - 1
9-91961868-AC-A c.1511del p.P504Rfs*11 Frameshift 11/17 - 1
9-91961891-C-A c.1530C>A p.S510= Synonymous 11/17 - 1
9-91961891-C-G c.1530C>G p.S510= Synonymous 11/17 - 1
9-91961891-C-T c.1530C>T p.S510= Synonymous 11/17 - 1
9-91961895-G-A c.1534G>A p.A512T Missense 11/17 - 1
9-91961898-C-T c.1537C>T p.P513S Missense 11/17 - 4
9-91961899-C-CA c.1539dup p.L514Tfs*46 Frameshift 11/17 - 1
9-91961901-C-G c.1540C>G p.L514V Missense 11/17 - 1
9-91961904-A-G c.1543A>G p.M515V Missense 11/17 - 1
9-91961904-AT-CA c.1543_1544delinsCA p.M515Q Missense 11/17 - 1
9-91961906-G-A c.1545G>A p.M515I Missense 11/17 - 1
9-91961906-G-C c.1545G>C p.M515I Missense 11/17 - 1
9-91961906-G-T c.1545G>T p.M515I Missense 11/17 - 1
9-91961911-A-C c.1550A>C p.K517T Missense 11/17 - 1
9-91961927-G-C c.1566G>C p.E522D Missense 11/17 - 1
9-91961928-A-C c.1567A>C p.I523L Missense 11/17 - 1
9-91961930-C-A c.1569C>A p.I523= Synonymous 11/17 - 1
9-91961930-C-T c.1569C>T p.I523= Synonymous 11/17 - 1
9-91961932-C-T c.1571C>T p.P524L Missense 11/17 - 1
9-91961936-G-A c.1575G>A p.K525= Synonymous 11/17 - 2
9-91961938-C-A c.1577C>A p.A526D Missense 11/17 - 1
9-91961938-C-T c.1577C>T p.A526V Missense 11/17 - 1
9-91961941-A-G c.1580A>G p.K527R Missense 11/17 - 1
9-91961942-G-A c.1581G>A p.K527= Synonymous 11/17 - 1
9-91961949-A-G c.1588A>G p.T530A Missense 11/17 - 3
9-91961949-A-T c.1588A>T p.T530S Missense 11/17 - 1
9-91961950-CC-GG c.1589_1590inv p.T530R Missense 11/17 - 1
9-91961953-C-A c.1592C>A p.S531* Nonsense 11/17 - 1
9-91961953-C-G c.1592C>G p.S531* Nonsense 11/17 - 1
9-91961953-C-T c.1592C>T p.S531L Missense 11/17 - 1
9-91961957-G-A c.1596G>A p.L532= Synonymous 11/17 - 1
9-91961960-G-A c.1599G>A p.K533= Synonymous 11/17 - 1
9-91961960-G-T c.1599G>T p.K533N Missense 11/17 - 1
9-91962057-C-T c.1602+94C>T - IntronicSNV - 11/16 1
9-91962998-T-C c.1607T>C p.I536T Missense 12/17 - 1
9-91963003-A-G c.1612A>G p.K538E Missense 12/17 - 1
9-91963008-A-T c.1617A>T p.E539D Missense 12/17 - 1
9-91963009-C-T c.1618C>T p.R540W Missense 12/17 - 2
9-91963010-G-A c.1619G>A p.R540Q Missense 12/17 - 20
9-91963013-A-G c.1622A>G p.Q541R Missense 12/17 - 1
9-91963015-G-A c.1624G>A p.E542K Missense 12/17 - 1
9-91963018-AG-CA c.1627_1628delinsCA p.R543Q Missense 12/17 - 3
9-91963024-C-T c.1633C>T p.Q545* Nonsense 12/17 - 1
9-91963027-C-T c.1636C>T p.R546C Missense 12/17 - 2
9-91963028-G-A c.1637G>A p.R546H Missense 12/17 - 2
9-91963037-A-G c.1646A>G p.E549G Missense 12/17 - 1
9-91963039-A-T c.1648A>T p.N550Y Missense 12/17 - 1
9-91963041-T-A c.1650T>A p.N550K Missense 12/17 - 1
9-91963041-T-C c.1650T>C p.N550= Synonymous 12/17 - 1
9-91963041-T-G c.1650T>G p.N550K Missense 12/17 - 1
9-91963047-G-A c.1656G>A p.V552= Synonymous 12/17 - 2
9-91963047-G-C c.1656G>C p.V552= Synonymous 12/17 - 2
9-91963047-G-T c.1656G>T p.V552= Synonymous 12/17 - 1
9-91963055-C-T c.1664C>T p.A555V Missense 12/17 - 1
9-91963062-C-A c.1671C>A p.T557= Synonymous 12/17 - 1
9-91963062-C-G c.1671C>G p.T557= Synonymous 12/17 - 1
9-91963062-C-T c.1671C>T p.T557= Synonymous 12/17 - 1
9-91963071-C-T c.1680C>T p.D560= Synonymous 12/17 - 1
9-91963077-A-G c.1686A>G p.Q562= Synonymous 12/17 - 1
9-91963078-G-C c.1687G>C p.D563H Missense 12/17 - 1
9-91963081-G-T c.1690G>T p.G564* Nonsense 12/17 - 1
9-91963089-T-A c.1698T>A p.S566R Missense 12/17 - 1
9-91963090-G-T c.1699G>T p.G567C Missense 12/17 - 1
9-91963091-G-A c.1700G>A p.G567D Missense 12/17 - 2
9-91963100-A-G c.1709A>G p.D570G Missense 12/17 - 1
9-91963102-C-T c.1711C>T p.Q571* Nonsense 12/17 - 2
9-91963108-C-T c.1717C>T p.P573S Missense 12/17 - 2
9-91963111-G-A c.1720G>A p.E574K Missense 12/17 - 6
9-91963120-G-A c.1729G>A p.E577K Missense 12/17 - 1
9-91963130-G-A c.1738+1G>A - IntronicSNV - 12/16 1
9-91963480-G-A c.1738+351G>A - IntronicSNV - 12/16 1
9-91964691-G-A c.1739G>A p.G580E Missense 13/17 - 1
9-91964696-G-A c.1744G>A p.E582K Missense 13/17 - 2
9-91964704-G-A c.1752G>A p.M584I Missense 13/17 - 2
9-91964705-G-A c.1753G>A p.D585N Missense 13/17 - 1
9-91964707-C-T c.1755C>T p.D585= Synonymous 13/17 - 4
9-91964708-CG-C c.1756del p.E586Nfs*2 Frameshift 13/17 - 1
9-91964708-G-A c.1756G>A p.E586K Missense 13/17 - 2
9-91964718-C-T c.1766C>T p.S589F Missense 13/17 - 1
9-91964727-C-T c.1775C>T p.S592L Missense 13/17 - 2
9-91964729-G-A c.1777G>A p.V593I Missense 13/17 - 1
9-91964732-G-C c.1780G>C p.E594Q Missense 13/17 - 1
9-91964736-A-G c.1784A>G p.D595G Missense 13/17 - 1
9-91964738-A-G c.1786A>G p.K596E Missense 13/17 - 1
9-91964746-A-T c.1794A>T p.E598D Missense 13/17 - 1
9-91964747-G-C c.1795G>C p.E599Q Missense 13/17 - 1
9-91964756-G-A c.1804G>A p.G602S Missense 13/17 - 2
9-91964773-G-A c.1821G>A p.R607= Synonymous 13/17 - 3
9-91964774-G-A c.1822G>A p.D608N Missense 13/17 - 2
9-91964774-G-T c.1822G>T p.D608Y Missense 13/17 - 1
9-91964775-A-G c.1823A>G p.D608G Missense 13/17 - 1
9-91964776-C-A c.1824C>A p.D608E Missense 13/17 - 3
9-91964776-C-G c.1824C>G p.D608E Missense 13/17 - 4
9-91964783-G-A c.1831G>A p.A611T Missense 13/17 - 1
9-91964784-C-T c.1832C>T p.A611V Missense 13/17 - 1
9-91964790-A-G c.1838A>G p.H613R Missense 13/17 - 1
9-91964795-G-C c.1843G>C p.A615P Missense 13/17 - 1
9-91964795-G-T c.1843G>T p.A615S Missense 13/17 - 1
9-91964798-C-G c.1846C>G p.P616A Missense 13/17 - 3
9-91964798-C-T c.1846C>T p.P616S Missense 13/17 - 1
9-91964799-C-T c.1847C>T p.P616L Missense 13/17 - 3
9-91964802-A-G c.1850A>G p.N617S Missense 13/17 - 1
9-91964804-C-A c.1852C>A p.H618N Missense 13/17 - 1
9-91964813-T-C c.1861T>C p.F621L Missense 13/17 - 2
9-91964815-C-A c.1863C>A p.F621L Missense 13/17 - 2
9-91964815-C-G c.1863C>G p.F621L Missense 13/17 - 2
9-91964815-C-T c.1863C>T p.F621= Synonymous 13/17 - 3
9-91964819-A-G c.1867A>G p.K623E Missense 13/17 - 2
9-91964826-A-G c.1874A>G p.H625R Missense 13/17 - 1
9-91964826-A-T c.1874A>T p.H625L Missense 13/17 - 1
9-91964827-C-A c.1875C>A p.H625Q Missense 13/17 - 1
9-91964827-C-G c.1875C>G p.H625Q Missense 13/17 - 1
9-91964829-G-T c.1877G>T p.S626I Missense 13/17 - 1
9-91964831-C-A c.1879C>A p.R627S Missense 13/17 - 1
9-91964831-CG-AT c.1879_1880delinsAT p.R627I Missense 13/17 - 1
9-91964832-G-A c.1880G>A p.R627H Missense 13/17 - 2
9-91964835-G-T c.1883G>T p.R628I Missense 13/17 - 1
9-91964836-A-C c.1884A>C p.R628S Missense 13/17 - 1
9-91964836-A-T c.1884A>T p.R628S Missense 13/17 - 1
9-91964842-G-C c.1890G>C p.R630S Missense 13/17 - 1
9-91964842-G-T c.1890G>T p.R630S Missense 13/17 - 1
9-91964843-G-A c.1891G>A p.D631N Missense 13/17 - 1
9-91965560-A-G c.1906A>G p.M636V Missense 14/17 - 1
9-91965562-G-A c.1908G>A p.M636I Missense 14/17 - 1
9-91965563-C-T c.1909C>T p.L637F Missense 14/17 - 1
9-91965567-G-A c.1913G>A p.S638N Missense 14/17 - 1
9-91965577-G-A c.1923G>A p.V641= Synonymous 14/17 - 2
9-91965577-G-C c.1923G>C p.V641= Synonymous 14/17 - 1
9-91965577-G-T c.1923G>T p.V641= Synonymous 14/17 - 1
9-91965579-A-C c.1925A>C p.D642A Missense 14/17 - 1
9-91965585-G-A c.1931G>A p.C644Y Missense 14/17 - 1
9-91965585-G-T c.1931G>T p.C644F Missense 14/17 - 1
9-91965592-C-A c.1938C>A p.T646= Synonymous 14/17 - 2
9-91965593-G-A c.1939G>A p.D647N Missense 14/17 - 1
9-91965612-T-C c.1958T>C p.V653A Missense 14/17 - 3
9-91965615-G-A c.1961G>A p.R654H Missense 14/17 - 3
9-91965615-G-T c.1961G>T p.R654L Missense 14/17 - 1
9-91965617-T-C c.1963T>C p.F655L Missense 14/17 - 1
9-91965619-C-A c.1965C>A p.F655L Missense 14/17 - 1
9-91965619-C-G c.1965C>G p.F655L Missense 14/17 - 1
9-91965621-A-G c.1967A>G p.Q656R Missense 14/17 - 2
9-91965626-C-T c.1972C>T p.R658C Missense 14/17 - 1
9-91965631-G-A c.1977G>A p.M659I Missense 14/17 - 1
9-91965631-G-C c.1977G>C p.M659I Missense 14/17 - 1
9-91965631-G-T c.1977G>T p.M659I Missense 14/17 - 1
9-91965632-T-A c.1978T>A p.Y660N Missense 14/17 - 1
9-91965637-G-C c.1983G>C p.Q661H Missense 14/17 - 1
9-91965642-A-C c.1988A>C p.D663A Missense 14/17 - 1
9-91965644-C-A c.1990C>A p.P664T Missense 14/17 - 1
9-91965653-G-A c.1999G>A p.A667T Missense 14/17 - 1
9-91965658-G-T c.2004G>T p.K668N Missense 14/17 - 1
9-91965659-A-T c.2005A>T p.T669S Missense 14/17 - 1
9-91965660-C-T c.2006C>T p.T669I Missense 14/17 - 1
9-91965664-A-G c.2010A>G p.K670= Synonymous 14/17 - 1
9-91965665-C-T c.2011C>T p.R671C Missense 14/17 - 1
9-91965666-G-A c.2012G>A p.R671H Missense 14/17 - 1
9-91965668-C-T c.2014C>T p.R672* Nonsense 14/17 - 2
9-91965669-G-A c.2015G>A p.R672Q Missense 14/17 - 1
9-91965675-T-C c.2021T>C p.V674A Missense 14/17 - 1
9-91965681-G-C c.2027G>C p.G676A Missense 14/17 - 1
9-91965686-A-G c.2032A>G p.R678G Missense 14/17 - 1
9-91965688-G-T c.2034G>T p.R678S Missense 14/17 - 1
9-91965691-G-C c.2037G>C p.E679D Missense 14/17 - 2
9-91965691-G-T c.2037G>T p.E679D Missense 14/17 - 4
9-91965695-C-T c.2041C>T p.L681F Missense 14/17 - 1
9-91965697-C-CT c.2043_2044insT p.K682* Nonsense 14/17 - 1
9-91965696-TCAAACAC-T c.2044_2050del p.K682* Frameshift 14/17 - 1
9-91965696-TCAAA-T c.2045_2048del p.K682Tfs*2 Frameshift 14/17 - 1
9-91965699-A-C c.2045A>C p.K682T Missense 14/17 - 1
9-91965697-CAAACACCTGAAGCTCAAA-C c.2048_2065del p.H683_K688del InFrameDeletion 14/17 - 1
9-91965712-C-CT c.2058_2059insT p.K687* Nonsense 14/17 - 3
9-91965725-T-A c.2071T>A p.C691S Missense 14/17 - 1
9-91965725-T-C c.2071T>C p.C691R Missense 14/17 - 12
9-91965726-G-C c.2072G>C p.C691S Missense 14/17 - 1
9-91965728-G-A c.2074G>A p.V692I Missense 14/17 - 1
9-91965733-T-A c.2079T>A p.I693= Synonymous 14/17 - 1
9-91965733-T-C c.2079T>C p.I693= Synonymous 14/17 - 1
9-91965738-C-A c.2084C>A p.S695Y Missense 14/17 - 1
9-91965740-C-T c.2086C>T p.P696S Missense 14/17 - 1
9-91965749-G-A c.2095G>A p.E699K Missense 14/17 - 1
9-91965758-C-T c.2104C>T p.Q702* Nonsense 14/17 - 1
9-91965760-G-C c.2106G>C p.Q702H Missense 14/17 - 2
9-91965760-G-T c.2106G>T p.Q702H Missense 14/17 - 2
9-91965762-C-T c.2108C>T p.S703L Missense 14/17 - 1
9-91965767-G-A c.2113G>A p.G705S Missense 14/17 - 1
9-91972328-G-T c.2116G>T p.G706W Missense 15/17 - 1
9-91972331-C-G c.2119C>G p.L707V Missense 15/17 - 1
9-91972334-G-A c.2122G>A p.D708N Missense 15/17 - 2
9-91972337-G-A c.2125G>A p.D709N Missense 15/17 - 1
9-91972347-A-T c.2135A>T p.H712L Missense 15/17 - 1
9-91972350-C-T c.2138C>T p.T713I Missense 15/17 - 3
9-91972354-T-G c.2142T>G p.I714M Missense 15/17 - 2
9-91972355-A-T c.2143A>T p.I715F Missense 15/17 - 1
9-91972357-T-G c.2145T>G p.I715M Missense 15/17 - 1
9-91972358-G-A c.2146G>A p.D716N Missense 15/17 - 1
9-91972374-A-G c.2162A>G p.Q721R Missense 15/17 - 1
9-91972378-C-A c.2166C>A p.N722K Missense 15/17 - 2
9-91972378-C-G c.2166C>G p.N722K Missense 15/17 - 1
9-91972382-C-A c.2170C>A p.P724T Missense 15/17 - 1
9-91972388-G-A c.2176G>A p.V726M Missense 15/17 - 1
9-91972389-T-A c.2177T>A p.V726E Missense 15/17 - 1
9-91972390-GT-G c.2181del p.F727Lfs*12 Frameshift 15/17 - 1
9-91972394-G-A c.2182G>A p.A728T Missense 15/17 - 3
9-91972401-A-T c.2189A>T p.N730I Missense 15/17 - 1
9-91972403-C-A c.2191C>A p.R731S Missense 15/17 - 2
9-91972403-C-T c.2191C>T p.R731C Missense 15/17 - 5
9-91972404-G-A c.2192G>A p.R731H Missense 15/17 - 4
9-91972406-A-G c.2194A>G p.K732E Missense 15/17 - 2
9-91972409-G-A c.2197G>A p.A733T Missense 15/17 - 1
9-91972416-G-A c.2204G>A p.G735E Missense 15/17 - 2
9-91972416-G-C c.2204G>C p.G735A Missense 15/17 - 1
9-91972418-C-T c.2206C>T p.R736C Missense 15/17 - 1
9-91972419-G-A c.2207G>A p.R736H Missense 15/17 - 2
9-91972421-A-C c.2209A>C p.S737R Missense 15/17 - 1
9-91972436-G-T c.2224G>T p.V742F Missense 15/17 - 1
9-91972447-T-C c.2235T>C p.S745= Synonymous 15/17 - 2
9-91972449-T-C c.2237T>C p.V746A Missense 15/17 - 1
9-91972450-G-A c.2238G>A p.V746= Synonymous 15/17 - 1
9-91972450-G-C c.2238G>C p.V746= Synonymous 15/17 - 1
9-91972450-G-T c.2238G>T p.V746= Synonymous 15/17 - 1
9-91972451-G-C c.2239G>C p.V747L Missense 15/17 - 2
9-91972451-G-T c.2239G>T p.V747L Missense 15/17 - 1
9-91972469-G-C c.2257G>C p.D753H Missense 15/17 - 1
9-91972471-T-C c.2259T>C p.D753= Synonymous 15/17 - 2
9-91972473-G-T c.2261G>T p.G754V Missense 15/17 - 1
9-91972476-C-T c.2264C>T p.A755V Missense 15/17 - 1
9-91972478-C-T c.2266C>T p.Q756* Nonsense 15/17 - 1
9-91972480-G-A c.2268G>A p.Q756= Synonymous 15/17 - 1
9-91972480-G-C c.2268G>C p.Q756H Missense 15/17 - 2
9-91972480-G-T c.2268G>T p.Q756H Missense 15/17 - 2
9-91972929-A-G c.2284A>G p.M762V Missense 16/17 - 1
9-91972939-T-C c.2294T>C p.L765P Missense 16/17 - 1
9-91972943-A-C c.2298A>C p.T766= Synonymous 16/17 - 1
9-91972943-A-G c.2298A>G p.T766= Synonymous 16/17 - 1
9-91972943-A-T c.2298A>T p.T766= Synonymous 16/17 - 1
9-91972948-C-T c.2303C>T p.A768V Missense 16/17 - 3
9-91972953-C-T c.2308C>T p.R770* Nonsense 16/17 - 7
9-91972954-G-A c.2309G>A p.R770Q Missense 16/17 - 1
9-91972960-C-T c.2315C>T p.A772V Missense 16/17 - 1
9-91972971-A-G c.2326A>G p.M776V Missense 16/17 - 1
9-91972974-C-A c.2329C>A p.L777M Missense 16/17 - 1
9-91972977-G-C c.2332G>C p.E778Q Missense 16/17 - 1
9-91972979-G-A c.2334G>A p.E778= Synonymous 16/17 - 1
9-91972989-C-A c.2344C>A p.Q782K Missense 16/17 - 1
9-91972989-C-T c.2344C>T p.Q782* Nonsense 16/17 - 5
9-91972991-G-A c.2346G>A p.Q782= Synonymous 16/17 - 1
9-91972996-T-A c.2351T>A p.L784Q Missense 16/17 - 1
9-91973000-G-A c.2355G>A p.V785= Synonymous 16/17 - 1
9-91973001-G-A c.2356G>A p.G786R Missense 16/17 - 1
9-91973007-C-T c.2362C>T p.P788S Missense 16/17 - 1
9-91973008-C-A c.2363C>A p.P788H Missense 16/17 - 1
9-91973011-G-T c.2366G>T p.R789M Missense 16/17 - 1
9-91973016-C-G c.2371C>G p.Q791E Missense 16/17 - 1
9-91973022-C-T c.2377C>T p.P793S Missense 16/17 - 2
9-91973023-C-A c.2378C>A p.P793H Missense 16/17 - 1
9-91973025-C-T c.2380C>T p.P794S Missense 16/17 - 3
9-91973026-C-A c.2381C>A p.P794H Missense 16/17 - 1
9-91973030-C-A c.2385C>A p.S795R Missense 16/17 - 1
9-91973035-C-A c.2390C>A p.P797H Missense 16/17 - 1
9-91973040-C-G c.2395C>G p.Q799E Missense 16/17 - 1
9-91973042-G-T c.2397G>T p.Q799H Missense 16/17 - 1
9-91973048-C-A c.2403C>A p.P801= Synonymous 16/17 - 1
9-91973048-C-G c.2403C>G p.P801= Synonymous 16/17 - 1
9-91973048-C-T c.2403C>T p.P801= Synonymous 16/17 - 1
9-91973051-C-T c.2406C>T p.S802= Synonymous 16/17 - 3
9-91973053-G-A c.2408G>A p.C803Y Missense 16/17 - 1
9-91973065-A-G c.2420A>G p.D807G Missense 16/17 - 1
9-91973069-C-T c.2424C>T p.G808= Synonymous 16/17 - 2
9-91973070-C-T c.2425C>T p.P809S Missense 16/17 - 1
9-91973071-C-A c.2426C>A p.P809H Missense 16/17 - 1
9-91973071-C-T c.2426C>T p.P809L Missense 16/17 - 2
9-91973079-C-T c.2434C>T p.L812= Synonymous 16/17 - 1
9-91973081-G-A c.2436G>A p.L812= Synonymous 16/17 - 3
9-91973081-G-C c.2436G>C p.L812= Synonymous 16/17 - 1
9-91973081-G-T c.2436G>T p.L812= Synonymous 16/17 - 1
9-91973084-A-G c.2439A>G p.K813= Synonymous 16/17 - 2
9-91973085-G-A c.2440G>A p.E814K Missense 16/17 - 2
9-91973085-G-T c.2440G>T p.E814* Nonsense 16/17 - 1
9-91973099-A-G c.2454A>G p.P818= Synonymous 16/17 - 2
9-91973107-G-T c.2461+1G>T - IntronicSNV - 16/16 2
9-91973111-G-A c.2461+5G>A - IntronicSNV - 16/16 1
9-91973636-T-C c.2462T>C p.I821T Missense 17/17 - 1
9-91973638-G-A c.2464G>A p.E822K Missense 17/17 - 2
9-91973642-T-A c.2468T>A p.I823N Missense 17/17 - 1
9-91973643-C-G c.2469C>G p.I823M Missense 17/17 - 1
9-91973647-A-C c.2473A>C p.K825Q Missense 17/17 - 1
9-91973647-A-G c.2473A>G p.K825E Missense 17/17 - 1
9-91973650-A-G c.2476A>G p.K826E Missense 17/17 - 1
9-91973653-C-T c.2479C>T p.H827Y Missense 17/17 - 1
9-91973668-A-G c.2494A>G p.S832G Missense 17/17 - 2
9-91973672-G-C c.2498G>C p.G833A Missense 17/17 - 2
9-91973680-C-A c.2506C>A p.L836M Missense 17/17 - 1
9-91973682-G-T c.2508G>T p.L836= Synonymous 17/17 - 1
9-91973689-G-A c.2515G>A p.E839K Missense 17/17 - 4
9-91973691-A-C c.2517A>C p.E839D Missense 17/17 - 1
9-91973696-C-T c.2522C>T p.S841F Missense 17/17 - 1
9-91973698-T-G c.2524T>G p.L842V Missense 17/17 - 2
9-91973699-T-G c.2525T>G p.L842W Missense 17/17 - 1
9-91973716-C-G c.2542C>G p.Q848E Missense 17/17 - 1
9-91973716-C-T c.2542C>T p.Q848* Nonsense 17/17 - 1
9-91973719-A-G c.2545A>G p.M849V Missense 17/17 - 1
9-91973721-G-A c.2547G>A p.M849I Missense 17/17 - 2
9-91973721-G-C c.2547G>C p.M849I Missense 17/17 - 2
9-91973721-G-T c.2547G>T p.M849I Missense 17/17 - 2
9-91973724-G-A c.2550G>A p.M850I Missense 17/17 - 1
9-91973724-G-C c.2550G>C p.M850I Missense 17/17 - 1
9-91973724-G-T c.2550G>T p.M850I Missense 17/17 - 1
9-91973729-T-C c.2555T>C p.L852S Missense 17/17 - 1
9-91973734-T-G c.2560T>G p.L854V Missense 17/17 - 1