HELLS

HELLS helicase, lymphoid specific

Annotation transcript: NM_018063.5

704 unique variant annotations were identified in 299 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
10-96305601-C-T c.-78C>T - 5-UTRSNV 1/22 - 1
10-96305621-C-T c.-58C>T - 5-UTRSNV 1/22 - 1
10-96305680-T-C c.2T>C p.M1? Missense 1/22 - 2
10-96305683-C-T c.5C>T p.P2L Missense 1/22 - 1
10-96305684-A-C c.6A>C p.P2= Synonymous 1/22 - 1
10-96305691-C-A c.13C>A p.R5= Synonymous 1/22 - 1
10-96305691-C-T c.13C>T p.R5W Missense 1/22 - 1
10-96305693-G-A c.15G>A p.R5= Synonymous 1/22 - 1
10-96305693-G-C c.15G>C p.R5= Synonymous 1/22 - 1
10-96305693-G-T c.15G>T p.R5= Synonymous 1/22 - 1
10-96305692-G-A c.14G>A p.R5Q Missense 1/22 - 1
10-96305697-G-T c.19G>T p.A7S Missense 1/22 - 1
10-96305699-G-T c.21G>T p.A7= Synonymous 1/22 - 1
10-96305701-G-A c.23G>A p.G8D Missense 1/22 - 1
10-96305701-G-T c.23G>T p.G8V Missense 1/22 - 2
10-96305707-G-A c.29G>A p.G10D Missense 1/22 - 1
10-96305709-G-A c.31G>A p.G11S Missense 1/22 - 1
10-96305729-T-C c.31+20T>C - IntronicSNV - 1/21 8
10-96305830-G-A c.31+121G>A - IntronicSNV - 1/21 2
10-96306134-G-A c.32G>A p.G11D Missense 2/22 - 2
10-96306136-TCG-GAC c.34_36delinsGAC p.S12D Missense 2/22 - 1
10-96306136-T-G c.34T>G p.S12A Missense 2/22 - 2
10-96306137-C-T c.35C>T p.S12L Missense 2/22 - 1
10-96306142-GCT-TGG c.40_42delinsTGG p.A14W Missense 2/22 - 1
10-96306142-G-T c.40G>T p.A14S Missense 2/22 - 1
10-96306143-C-A c.41C>A p.A14D Missense 2/22 - 1
10-96306143-CT-AG c.41_42inv p.A14E Missense 2/22 - 1
10-96306148-GCA-TAT c.46_48delinsTAT p.A16Y Missense 2/22 - 4
10-96306148-GC-TA c.46_47delinsTA p.A16* Nonsense 2/22 - 1
10-96306149-CA-AC c.47_48delinsAC p.A16D Missense 2/22 - 1
10-96306149-C-G c.47C>G p.A16G Missense 2/22 - 1
10-96306154-G-A c.52G>A p.V18I Missense 2/22 - 1
10-96306158-A-G c.56A>G p.E19G Missense 2/22 - 2
10-96306159-A-G c.57A>G p.E19= Synonymous 2/22 - 2
10-96306163-C-T c.61C>T p.L21= Synonymous 2/22 - 1
10-96306165-G-A c.63G>A p.L21= Synonymous 2/22 - 1
10-96306165-G-C c.63G>C p.L21= Synonymous 2/22 - 1
10-96306165-G-T c.63G>T p.L21= Synonymous 2/22 - 2
10-96306169-A-T c.67A>T p.T23S Missense 2/22 - 1
10-96306172-G-A c.70G>A p.A24T Missense 2/22 - 1
10-96306172-GCT-TAA c.70_72delinsTAA p.A24* Nonsense 2/22 - 1
10-96306173-C-A c.71C>A p.A24D Missense 2/22 - 2
10-96306176-T-A c.74T>A p.V25E Missense 2/22 - 1
10-96306181-A-T c.79A>T p.T27S Missense 2/22 - 1
10-96306182-C-G c.80C>G p.T27S Missense 2/22 - 2
10-96306183-C-T c.81C>T p.T27= Synonymous 2/22 - 1
10-96306184-C-T c.82C>T p.P28S Missense 2/22 - 1
10-96306185-C-A c.83C>A p.P28Q Missense 2/22 - 1
10-96306187-G-A c.85G>A p.A29T Missense 2/22 - 2
10-96306187-G-C c.85G>C p.A29P Missense 2/22 - 3
10-96306187-GC-AT c.85_86delinsAT p.A29I Missense 2/22 - 2
10-96306187-GCC-ATG c.85_87delinsATG p.A29M Missense 2/22 - 1
10-96306187-GCC-CAA c.85_87delinsCAA p.A29Q Missense 2/22 - 1
10-96306187-GC-CG c.85_86delinsCG p.A29R Missense 2/22 - 2
10-96306187-GC-CT c.85_86delinsCT p.A29L Missense 2/22 - 2
10-96306188-C-A c.86C>A p.A29D Missense 2/22 - 2
10-96306188-CC-AG c.86_87delinsAG p.A29E Missense 2/22 - 1
10-96306188-C-T c.86C>T p.A29V Missense 2/22 - 1
10-96306191-T-A c.89T>A p.M30K Missense 2/22 - 1
10-96306194-T-G c.92T>G p.L31R Missense 2/22 - 1
10-96306199-G-A c.97G>A p.E33K Missense 2/22 - 1
10-96306205-G-T c.103G>T p.E35* Nonsense 2/22 - 1
10-96306210-G-A c.108G>A p.Q36= Synonymous 2/22 - 1
10-96306211-CT-GC c.109_110delinsGC p.L37A Missense 2/22 - 1
10-96306213-T-A c.111T>A p.L37= Synonymous 2/22 - 1
10-96306213-T-C c.111T>C p.L37= Synonymous 2/22 - 1
10-96306213-T-G c.111T>G p.L37= Synonymous 2/22 - 1
10-96306217-G-A c.115G>A p.A39T Missense 2/22 - 1
10-96306218-C-G c.116C>G p.A39G Missense 2/22 - 1
10-96306221-CT-AG c.119_120inv p.A40E Missense 2/22 - 1
10-96306224-G-C c.122G>C p.G41A Missense 2/22 - 1
10-96306224-G-T c.122G>T p.G41V Missense 2/22 - 1
10-96306225-A-C c.123A>C p.G41= Synonymous 2/22 - 1
10-96306226-C-G c.124C>G p.L42V Missense 2/22 - 2
10-96306231-G-A c.129G>A p.E43= Synonymous 2/22 - 1
10-96306233-G-A c.131G>A p.R44K Missense 2/22 - 2
10-96306238-C-T c.136C>T p.R46W Missense 2/22 - 1
10-96306243-G-C c.141G>C p.K47N Missense 2/22 - 1
10-96306243-G-T c.141G>T p.K47N Missense 2/22 - 1
10-96306244-A-G c.142A>G p.M48V Missense 2/22 - 1
10-96306248-T-C c.146T>C p.L49P Missense 2/22 - 1
10-96306253-A-C c.151A>C p.K51Q Missense 2/22 - 3
10-96306250-GA-G c.152del p.K51Rfs*33 Frameshift 2/22 - 1
10-96306257-T-C c.153+2T>C - IntronicSNV - 2/21 1
10-96306265-G-T c.153+10G>T - IntronicSNV - 2/21 1
10-96311739-G-A c.154-2144G>A - IntronicSNV - 2/21 1
10-96311739-G-C c.154-2144G>C - IntronicSNV - 2/21 1
10-96312568-A-C c.154-1315A>C - IntronicSNV - 2/21 1
10-96313884-C-A c.155C>A p.A52D Missense 3/22 - 1
10-96313887-G-A c.158G>A p.R53H Missense 3/22 - 3
10-96313887-G-T c.158G>T p.R53L Missense 3/22 - 1
10-96313889-A-G c.160A>G p.M54V Missense 3/22 - 1
10-96313892-TC-CT c.163_164delinsCT p.S55L Missense 3/22 - 1
10-96313897-G-T c.168G>T p.W56C Missense 3/22 - 1
10-96313902-G-A c.173G>A p.R58K Missense 3/22 - 1
10-96313907-T-G c.178T>G p.S60A Missense 3/22 - 1
10-96313908-C-A c.179C>A p.S60* Nonsense 3/22 - 1
10-96313908-C-T c.179C>T p.S60L Missense 3/22 - 1
10-96313909-G-A c.180G>A p.S60= Synonymous 3/22 - 2
10-96313909-G-C c.180G>C p.S60= Synonymous 3/22 - 1
10-96313909-G-T c.180G>T p.S60= Synonymous 3/22 - 1
10-96313911-C-A c.182C>A p.T61K Missense 3/22 - 1
10-96313913-G-A c.184G>A p.E62K Missense 3/22 - 2
10-96313918-T-C c.189T>C p.I63= Synonymous 3/22 - 1
10-96313919-C-T c.190C>T p.R64W Missense 3/22 - 6
10-96313920-G-A c.191G>A p.R64Q Missense 3/22 - 1
10-96313922-T-C c.193T>C p.Y65H Missense 3/22 - 1
10-96313923-A-G c.194A>G p.Y65C Missense 3/22 - 1
10-96313925-C-T c.196C>T p.R66C Missense 3/22 - 1
10-96313927-T-A c.198T>A p.R66= Synonymous 3/22 - 1
10-96313927-T-C c.198T>C p.R66= Synonymous 3/22 - 1
10-96313927-T-G c.198T>G p.R66= Synonymous 3/22 - 1
10-96313928-AG-CA c.199_200delinsCA p.R67Q Missense 3/22 - 1
10-96313940-TT-AG c.211_212delinsAG p.L71R Missense 3/22 - 1
10-96313942-G-A c.213G>A p.L71= Synonymous 3/22 - 1
10-96313946-G-A c.217G>A p.E73K Missense 3/22 - 1
10-96313952-A-G c.223A>G p.S75G Missense 3/22 - 1
10-96313960-A-C c.231A>C p.I77= Synonymous 3/22 - 20
10-96313960-A-G c.231A>G p.I77M Missense 3/22 - 3
10-96313960-A-T c.231A>T p.I77= Synonymous 3/22 - 2
10-96313961-T-G c.232T>G p.Y78D Missense 3/22 - 1
10-96313965-C-T c.236C>T p.S79F Missense 3/22 - 1
10-96313969-A-C c.240A>C p.K80N Missense 3/22 - 1
10-96313969-A-T c.240A>T p.K80N Missense 3/22 - 1
10-96313980-C-T c.251C>T p.T84M Missense 3/22 - 1
10-96313981-G-A c.252G>A p.T84= Synonymous 3/22 - 1
10-96313981-G-C c.252G>C p.T84= Synonymous 3/22 - 1
10-96313981-G-T c.252G>T p.T84= Synonymous 3/22 - 1
10-96313987-G-A c.258G>A p.M86I Missense 3/22 - 1
10-96313987-GG-AA c.258_259delinsAA p.M86_E87delinsIK MultiAAMissense 3/22 - 1
10-96313988-G-A c.259G>A p.E87K Missense 3/22 - 1
10-96313991-C-T c.262C>T p.Q88* Nonsense 3/22 - 1
10-96313999-A-G c.270A>G p.Q90= Synonymous 3/22 - 1
10-96314001-T-C c.272T>C p.L91S Missense 3/22 - 1
10-96314104-G-A c.276+99G>A - IntronicSNV - 3/21 1
10-96314104-G-C c.276+99G>C - IntronicSNV - 3/21 1
10-96316808-G-A c.277-1088G>A - IntronicSNV - 3/21 1
10-96317907-G-C c.288G>C p.K96N Missense 4/22 - 1
10-96317907-G-T c.288G>T p.K96N Missense 4/22 - 1
10-96317911-G-T c.292G>T p.E98* Nonsense 4/22 - 4
10-96317913-A-AT c.294_295insT p.K99* Nonsense 4/22 - 2
10-96317914-A-C c.295A>C p.K99Q Missense 4/22 - 2
10-96317911-GA-G c.297del p.K99Nfs*9 Frameshift 4/22 - 1
10-96317920-G-T c.301G>T p.E101* Nonsense 4/22 - 1
10-96317921-A-G c.302A>G p.E101G Missense 4/22 - 1
10-96317928-A-C c.309A>C p.K103N Missense 4/22 - 1
10-96317928-A-T c.309A>T p.K103N Missense 4/22 - 1
10-96317932-G-A c.313G>A p.E105K Missense 4/22 - 1
10-96317934-G-T c.315G>T p.E105D Missense 4/22 - 1
10-96317936-C-T c.317C>T p.S106F Missense 4/22 - 1
10-96317940-A-C c.321A>C p.L107F Missense 4/22 - 1
10-96317940-A-T c.321A>T p.L107F Missense 4/22 - 1
10-96317951-A-C c.332A>C p.K111T Missense 4/22 - 1
10-96318795-T-G c.333+843T>G - IntronicSNV - 4/21 1
10-96322102-A-G c.334-346A>G - IntronicSNV - 4/21 1
10-96322313-A-G c.334-135A>G - IntronicSNV - 4/21 1
10-96322404-G-A c.334-44G>A - IntronicSNV - 4/21 6
10-96322448-G-A c.334G>A p.G112S Missense 5/22 - 3
10-96322448-G-C c.334G>C p.G112R Missense 5/22 - 1
10-96322452-A-G c.338A>G p.K113R Missense 5/22 - 1
10-96322453-A-G c.339A>G p.K113= Synonymous 5/22 - 1
10-96322454-A-C c.340A>C p.N114H Missense 5/22 - 2
10-96322455-A-T c.341A>T p.N114I Missense 5/22 - 1
10-96322457-T-C c.343T>C p.S115P Missense 5/22 - 2
10-96322460-A-G c.346A>G p.I116V Missense 5/22 - 1
10-96322461-T-A c.347T>A p.I116N Missense 5/22 - 1
10-96322461-T-C c.347T>C p.I116T Missense 5/22 - 1
10-96322466-G-T c.352G>T p.A118S Missense 5/22 - 1
10-96322477-G-C c.363G>C p.E121D Missense 5/22 - 1
10-96322477-G-T c.363G>T p.E121D Missense 5/22 - 1
10-96322486-T-A c.370+2T>A - IntronicSNV - 5/21 3
10-96322520-T-C c.370+36T>C - IntronicSNV - 5/21 1
10-96322555-A-T c.371-14A>T - IntronicSNV - 5/21 1
10-96322571-AT-TA c.373_374delinsTA p.M125* Nonsense 6/22 - 1
10-96322573-G-A c.375G>A p.M125I Missense 6/22 - 1
10-96322573-G-C c.375G>C p.M125I Missense 6/22 - 1
10-96322573-G-T c.375G>T p.M125I Missense 6/22 - 1
10-96322576-GAAA-G c.383_385del p.K128del InFrameDeletion 6/22 - 1
10-96322576-GA-G c.385del p.R129Efs*54 Frameshift 6/22 - 1
10-96322584-G-C c.386G>C p.R129T Missense 6/22 - 1
10-96322587-G-A c.389G>A p.G130E Missense 6/22 - 1
10-96322589-AG-CT c.391_392inv p.R131L Missense 6/22 - 1
10-96322590-G-A c.392G>A p.R131K Missense 6/22 - 1
10-96322593-A-G c.395A>G p.E132G Missense 6/22 - 1
10-96322598-G-A c.400G>A p.E134K Missense 6/22 - 1
10-96322605-A-T c.407A>T p.Y136F Missense 6/22 - 2
10-96322606-C-A c.408C>A p.Y136* Nonsense 6/22 - 1
10-96322608-A-G c.410A>G p.N137S Missense 6/22 - 4
10-96322617-A-G c.419A>G p.E140G Missense 6/22 - 1
10-96322621-C-T c.423C>T p.V141= Synonymous 6/22 - 1
10-96322625-GTC-G c.427_428del p.S143Kfs*9 Frameshift 6/22 - 1
10-96322628-A-T c.430A>T p.K144* Nonsense 6/22 - 1
10-96322631-G-C c.433G>C p.E145Q Missense 6/22 - 1
10-96325677-G-A c.435+3044G>A - IntronicSNV - 6/21 1
10-96325677-G-C c.435+3044G>C - IntronicSNV - 6/21 1
10-96325677-G-T c.435+3044G>T - IntronicSNV - 6/21 1
10-96330998-T-C c.436-147T>C - IntronicSNV - 6/21 1
10-96331146-A-T c.437A>T p.E146V Missense 7/22 - 1
10-96331148-A-G c.439A>G p.I147V Missense 7/22 - 1
10-96331150-T-G c.441T>G p.I147M Missense 7/22 - 1
10-96331156-T-A c.447T>A p.S149= Synonymous 7/22 - 1
10-96331156-T-C c.447T>C p.S149= Synonymous 7/22 - 1
10-96331156-T-G c.447T>G p.S149= Synonymous 7/22 - 1
10-96331165-A-AT c.456_457insT p.K153* Nonsense 7/22 - 2
10-96331168-A-AT c.459_460insT p.N154* Nonsense 7/22 - 2
10-96331162-TA-T c.461del p.N154Ifs*29 Frameshift 7/22 - 2
10-96331171-T-A c.462T>A p.N154K Missense 7/22 - 1
10-96331171-TA-T c.467del p.K156Rfs*27 Frameshift 7/22 - 1
10-96331177-G-C c.468G>C p.K156N Missense 7/22 - 1
10-96331177-G-T c.468G>T p.K156N Missense 7/22 - 2
10-96331239-T-C c.477+53T>C - IntronicSNV - 7/21 1
10-96331266-G-A c.477+80G>A - IntronicSNV - 7/21 1
10-96331272-G-A c.477+86G>A - IntronicSNV - 7/21 1
10-96333724-A-T c.485A>T p.N162I Missense 8/22 - 1
10-96333726-TC-CT c.487_488delinsCT p.S163L Missense 8/22 - 2
10-96333727-C-T c.488C>T p.S163F Missense 8/22 - 1
10-96333729-T-C c.490T>C p.S164P Missense 8/22 - 1
10-96333730-CC-AA c.491_492delinsAA p.S164* Nonsense 8/22 - 1
10-96333732-TC-AT c.493_494delinsAT p.S165I Missense 8/22 - 1
10-96333733-C-T c.494C>T p.S165F Missense 8/22 - 1
10-96333736-C-T c.497C>T p.T166I Missense 8/22 - 1
10-96333741-C-T c.502C>T p.L168F Missense 8/22 - 6
10-96333743-C-T c.504C>T p.L168= Synonymous 8/22 - 1
10-96333753-G-A c.514G>A p.D172N Missense 8/22 - 1
10-96333756-C-G c.517C>G p.L173V Missense 8/22 - 1
10-96333771-G-C c.532G>C p.D178H Missense 8/22 - 1
10-96333774-T-G c.535T>G p.S179A Missense 8/22 - 1
10-96333775-C-T c.536C>T p.S179L Missense 8/22 - 9
10-96333776-G-A c.537G>A p.S179= Synonymous 8/22 - 2
10-96333776-G-C c.537G>C p.S179= Synonymous 8/22 - 2
10-96333776-G-T c.537G>T p.S179= Synonymous 8/22 - 2
10-96333808-C-T c.569C>T p.T190M Missense 8/22 - 1
10-96333829-T-A c.590T>A p.F197Y Missense 8/22 - 1
10-96333830-C-T c.591C>T p.F197= Synonymous 8/22 - 3
10-96333831-T-A c.592T>A p.F198I Missense 8/22 - 1
10-96333831-T-G c.592T>G p.F198V Missense 8/22 - 1
10-96333831-TT-GC c.592_593delinsGC p.F198A Missense 8/22 - 1
10-96333832-T-C c.593T>C p.F198S Missense 8/22 - 1
10-96333830-CT-C c.597del p.F199Lfs*24 Frameshift 8/22 - 1
10-96333840-C-T c.601C>T p.P201S Missense 8/22 - 4
10-96333844-TC-AG c.605_606delinsAG p.V202E Missense 8/22 - 1
10-96333846-CG-TA c.607_608delinsTA p.R203* Nonsense 8/22 - 1
10-96333846-C-T c.607C>T p.R203W Missense 8/22 - 3
10-96333849-A-T c.610A>T p.K204* Nonsense 8/22 - 2
10-96333850-A-G c.611A>G p.K204R Missense 8/22 - 4
10-96333859-G-A c.620G>A p.G207D Missense 8/22 - 1
10-96333866-A-G c.627A>G p.P209= Synonymous 8/22 - 2
10-96333867-G-A c.628G>A p.V210I Missense 8/22 - 1
10-96333870-C-T c.631C>T p.P211S Missense 8/22 - 1
10-96333873-T-G c.634T>G p.F212V Missense 8/22 - 1
10-96333894-A-T c.655A>T p.T219S Missense 8/22 - 2
10-96333895-C-G c.656C>G p.T219S Missense 8/22 - 1
10-96333896-T-A c.657T>A p.T219= Synonymous 8/22 - 3
10-96333896-T-C c.657T>C p.T219= Synonymous 8/22 - 3
10-96333896-T-G c.657T>G p.T219= Synonymous 8/22 - 3
10-96333898-G-A c.659G>A p.G220E Missense 8/22 - 4
10-96333900-G-A c.661G>A p.G221R Missense 8/22 - 1
10-96333900-G-C c.661G>C p.G221R Missense 8/22 - 1
10-96333900-G-T c.661G>T p.G221* Nonsense 8/22 - 2
10-96333901-G-A c.662G>A p.G221E Missense 8/22 - 1
10-96333908-G-A c.669G>A p.M223I Missense 8/22 - 1
10-96333910-G-A c.671G>A p.R224Q Missense 8/22 - 4
10-96333914-G-T c.675G>T p.W225C Missense 8/22 - 1
10-96333921-G-A c.682G>A p.V228I Missense 8/22 - 2
10-96333923-A-G c.684A>G p.V228= Synonymous 8/22 - 1
10-96333924-G-A c.685G>A p.E229K Missense 8/22 - 3
10-96333926-A-C c.687A>C p.E229D Missense 8/22 - 1
10-96333926-A-T c.687A>T p.E229D Missense 8/22 - 1
10-96333933-G-C c.694G>C p.E232Q Missense 8/22 - 1
10-96333943-G-T c.704G>T p.R235M Missense 8/22 - 1
10-96334311-A-G c.706A>G p.M236V Missense 9/22 - 1
10-96334331-T-A c.726T>A p.I242= Synonymous 9/22 - 1
10-96334331-T-C c.726T>C p.I242= Synonymous 9/22 - 1
10-96334336-G-A c.731G>A p.G244D Missense 9/22 - 1
10-96334336-G-C c.731G>C p.G244A Missense 9/22 - 1
10-96334344-G-A c.739G>A p.A247T Missense 9/22 - 3
10-96334345-C-T c.740C>T p.A247V Missense 9/22 - 1
10-96334352-A-C c.747A>C p.E249D Missense 9/22 - 1
10-96334352-A-G c.747A>G p.E249= Synonymous 9/22 - 1
10-96334352-A-T c.747A>T p.E249D Missense 9/22 - 1
10-96334353-A-G c.748A>G p.M250V Missense 9/22 - 1
10-96334356-G-A c.751G>A p.G251R Missense 9/22 - 1
10-96334356-G-C c.751G>C p.G251R Missense 9/22 - 1
10-96334360-T-G c.755T>G p.L252W Missense 9/22 - 1
10-96334363-GT-AG c.758_759delinsAG p.G253E Missense 9/22 - 1
10-96334366-A-G c.761A>G p.K254R Missense 9/22 - 1
10-96334370-A-C c.765A>C p.T255= Synonymous 9/22 - 2
10-96334370-A-G c.765A>G p.T255= Synonymous 9/22 - 2
10-96334370-A-T c.765A>T p.T255= Synonymous 9/22 - 2
10-96334376-G-A c.771G>A p.Q257= Synonymous 9/22 - 2
10-96334387-C-T c.782C>T p.T261I Missense 9/22 - 2
10-96334392-G-A c.787G>A p.A263T Missense 9/22 - 1
10-96334407-AGA-TGT c.802_804delinsTGT p.R268C Missense 9/22 - 1
10-96334417-C-A c.812C>A p.P271Q Missense 9/22 - 1
10-96334418-A-C c.813A>C p.P271= Synonymous 9/22 - 1
10-96334418-A-G c.813A>G p.P271= Synonymous 9/22 - 1
10-96334418-A-T c.813A>T p.P271= Synonymous 9/22 - 1
10-96334424-T-C c.819T>C p.P273= Synonymous 9/22 - 1
10-96334426-T-A c.821T>A p.F274Y Missense 9/22 - 1
10-96334429-T-C c.824T>C p.L275P Missense 9/22 - 2
10-96334431-G-A c.826G>A p.V276I Missense 9/22 - 1
10-96334435-G-A c.830G>A p.C277Y Missense 9/22 - 1
10-96334455-C-T c.850C>T p.P284S Missense 9/22 - 1
10-96334467-G-A c.862G>A p.A288T Missense 9/22 - 1
10-96334468-C-G c.863C>G p.A288G Missense 9/22 - 1
10-96334470-G-A c.865G>A p.E289K Missense 9/22 - 1
10-96334476-A-G c.871A>G p.K291E Missense 9/22 - 2
10-96334479-AGA-TGT c.874_876delinsTGT p.R292C Missense 9/22 - 1
10-96334485-A-G c.880A>G p.T294A Missense 9/22 - 1
10-96334492-A-G c.887A>G p.D296G Missense 9/22 - 1
10-96334578-T-C c.888+85T>C - IntronicSNV - 9/21 6
10-96336427-A-C c.897A>C p.T299= Synonymous 10/22 - 1
10-96336427-A-G c.897A>G p.T299= Synonymous 10/22 - 1
10-96336427-A-T c.897A>T p.T299= Synonymous 10/22 - 1
10-96336429-T-C c.899T>C p.M300T Missense 10/22 - 1
10-96336437-C-A c.907C>A p.H303N Missense 10/22 - 1
10-96336437-C-T c.907C>T p.H303Y Missense 10/22 - 1
10-96336440-G-T c.910G>T p.G304* Nonsense 10/22 - 1
10-96336441-G-A c.911G>A p.G304E Missense 10/22 - 1
10-96336443-A-C c.913A>C p.T305P Missense 10/22 - 1
10-96336443-A-G c.913A>G p.T305A Missense 10/22 - 1
10-96336446-C-T c.916C>T p.Q306* Nonsense 10/22 - 1
10-96336447-A-T c.917A>T p.Q306L Missense 10/22 - 1
10-96336450-A-G c.920A>G p.E307G Missense 10/22 - 1
10-96336455-C-T c.925C>T p.R309C Missense 10/22 - 1
10-96336456-G-A c.926G>A p.R309H Missense 10/22 - 5
10-96336459-A-C c.929A>C p.Q310P Missense 10/22 - 1
10-96336480-A-T c.950A>T p.Y317F Missense 10/22 - 1
10-96336485-C-A c.955C>A p.R319= Synonymous 10/22 - 1
10-96336485-C-T c.955C>T p.R319W Missense 10/22 - 4
10-96336487-G-A c.957G>A p.R319= Synonymous 10/22 - 1
10-96336487-G-C c.957G>C p.R319= Synonymous 10/22 - 1
10-96336487-G-T c.957G>T p.R319= Synonymous 10/22 - 1
10-96336486-G-A c.956G>A p.R319Q Missense 10/22 - 1
10-96336502-G-C c.972G>C p.Q324H Missense 10/22 - 2
10-96336502-G-T c.972G>T p.Q324H Missense 10/22 - 2
10-96336511-T-G c.981T>G p.P327= Synonymous 10/22 - 1
10-96336518-A-G c.988A>G p.I330V Missense 10/22 - 2
10-96336522-C-T c.992C>T p.T331M Missense 10/22 - 2
10-96336523-G-A c.993G>A p.T331= Synonymous 10/22 - 3
10-96336523-G-C c.993G>C p.T331= Synonymous 10/22 - 1
10-96336523-G-T c.993G>T p.T331= Synonymous 10/22 - 1
10-96336537-C-G c.1007C>G p.A336G Missense 10/22 - 1
10-96336539-A-T c.1009A>T p.M337L Missense 10/22 - 1
10-96336549-G-A c.1019G>A p.R340Q Missense 10/22 - 1
10-96336553-T-C c.1023T>C p.N341= Synonymous 10/22 - 1
10-96336554-G-A c.1024G>A p.A342T Missense 10/22 - 1
10-96336555-C-T c.1025C>T p.A342V Missense 10/22 - 4
10-96336557-T-C c.1027T>C p.L343= Synonymous 10/22 - 1
10-96336559-A-G c.1029A>G p.L343= Synonymous 10/22 - 1
10-96336655-A-AT c.1032+102dup - IntronicInsertion - 10/21 2
10-96336698-C-T c.1032+136C>T - IntronicSNV - 10/21 1
10-96336832-A-G c.1032+270A>G - IntronicSNV - 10/21 2
10-96336928-G-C c.1032+366G>C - IntronicSNV - 10/21 1
10-96337028-T-C c.1032+466T>C - IntronicSNV - 10/21 1
10-96341093-G-A c.1043G>A p.W348* Nonsense 11/22 - 1
10-96341110-G-A c.1060G>A p.D354N Missense 11/22 - 1
10-96341120-A-G c.1070A>G p.H357R Missense 11/22 - 1
10-96341130-G-C c.1080G>C p.K360N Missense 11/22 - 1
10-96341134-A-G c.1084A>G p.M362V UnclassifiedSNV 11/22 - 3
10-96341142-C-T c.1092C>T p.C364= Synonymous 11/22 - 1
10-96341143-C-T c.1093C>T p.R365C Missense 11/22 - 1
10-96341144-G-A c.1094G>A p.R365H Missense 11/22 - 1
10-96341144-GT-AA c.1094_1095delinsAA p.R365Q Missense 11/22 - 1
10-96341145-T-A c.1095T>A p.R365= Synonymous 11/22 - 1
10-96341145-T-C c.1095T>C p.R365= Synonymous 11/22 - 2
10-96341145-T-G c.1095T>G p.R365= Synonymous 11/22 - 2
10-96341151-C-G c.1101C>G p.I367M Missense 11/22 - 1
10-96341154-G-A c.1104G>A p.R368= Synonymous 11/22 - 1
10-96341155-G-A c.1105G>A p.E369K Missense 11/22 - 1
10-96341155-G-C c.1105G>C p.E369Q Missense 11/22 - 1
10-96341160-A-C c.1110A>C p.L370F Missense 11/22 - 1
10-96341164-C-T c.1114C>T p.R372* Nonsense 11/22 - 3
10-96341165-G-T c.1115G>T p.R372L Missense 11/22 - 2
10-96341166-A-G c.1116A>G p.R372= Synonymous 11/22 - 2
10-96341173-G-T c.1123G>T p.A375S Missense 11/22 - 1
10-96341186-T-G c.1136T>G p.L379R Missense 11/22 - 1
10-96341198-G-A c.1148G>A p.G383D Missense 11/22 - 1
10-96341209-C-A c.1159C>A p.Q387K Missense 11/22 - 1
10-96341222-C-A c.1172C>A p.S391* Nonsense 11/22 - 1
10-96341222-C-G c.1172C>G p.S391* Nonsense 11/22 - 3
10-96341230-T-C c.1180T>C p.W394R Missense 11/22 - 2
10-96341233-T-C c.1183T>C p.S395P Missense 11/22 - 1
10-96341236-T-C c.1186T>C p.L396= Synonymous 11/22 - 1
10-96341237-T-A c.1187T>A p.L396* Nonsense 11/22 - 1
10-96341242-A-G c.1192A>G p.N398D Missense 11/22 - 1
10-96341244-C-A c.1194C>A p.N398K Missense 11/22 - 1
10-96341244-C-G c.1194C>G p.N398K Missense 11/22 - 1
10-96341244-C-T c.1194C>T p.N398= Synonymous 11/22 - 1
10-96341245-T-G c.1195T>G p.F399V Missense 11/22 - 1
10-96341246-T-C c.1196T>C p.F399S Missense 11/22 - 1
10-96341249-T-G c.1199T>G p.L400W Missense 11/22 - 1
10-96341255-C-A c.1205C>A p.P402Q Missense 11/22 - 1
10-96341265-T-C c.1215T>C p.F405= Synonymous 11/22 - 3
10-96341274-G-A c.1224G>A p.L408= Synonymous 11/22 - 1
10-96341279-G-T c.1229G>T p.S410I Missense 11/22 - 1
10-96341328-T-TA c.1229+50dup - IntronicInsertion - 11/21 1
10-96341336-A-C c.1229+57A>C - IntronicSNV - 11/21 6
10-96341336-A-T c.1229+57A>T - IntronicSNV - 11/21 3
10-96342207-C-G c.1230-513C>G - IntronicSNV - 11/21 1
10-96342726-G-A c.1236G>A p.E412= Synonymous 12/22 - 1
10-96342729-T-A c.1239T>A p.S413= Synonymous 12/22 - 2
10-96342729-T-C c.1239T>C p.S413= Synonymous 12/22 - 2
10-96342729-T-G c.1239T>G p.S413= Synonymous 12/22 - 2
10-96342742-A-T c.1252A>T p.T418S Missense 12/22 - 1
10-96342747-T-G c.1257T>G p.S419R Missense 12/22 - 1
10-96342748-C-A c.1258C>A p.L420I Missense 12/22 - 1
10-96342748-C-G c.1258C>G p.L420V Missense 12/22 - 3
10-96342748-C-T c.1258C>T p.L420F Missense 12/22 - 1
10-96342754-G-C c.1264G>C p.E422Q Missense 12/22 - 1
10-96342763-G-A c.1273G>A p.E425K Missense 12/22 - 1
10-96342766-G-T c.1276G>T p.D426Y Missense 12/22 - 1
10-96342787-G-A c.1297G>A p.E433K Missense 12/22 - 2
10-96342799-T-G c.1309T>G p.L437V Missense 12/22 - 1
10-96342805-A-G c.1315A>G p.M439V Missense 12/22 - 1
10-96342807-G-A c.1317G>A p.M439I Missense 12/22 - 1
10-96342807-G-C c.1317G>C p.M439I Missense 12/22 - 1
10-96342807-G-T c.1317G>T p.M439I Missense 12/22 - 1
10-96342814-C-T c.1324C>T p.Q442* Nonsense 12/22 - 1
10-96343623-T-C c.1326+807T>C - IntronicSNV - 12/21 2
10-96343729-C-T c.1326+913C>T - IntronicSNV - 12/21 1
10-96343790-T-C c.1326+974T>C - IntronicSNV - 12/21 1
10-96343868-C-T c.1326+1052C>T - IntronicSNV - 12/21 1
10-96348000-C-T c.1341C>T p.F447= Synonymous 13/22 - 1
10-96348014-T-G c.1355T>G p.L452R Missense 13/22 - 1
10-96348034-G-T c.1375G>T p.E459* Nonsense 13/22 - 1
10-96348038-T-C c.1379T>C p.V460A Missense 13/22 - 2
10-96348044-C-T c.1385C>T p.P462L Missense 13/22 - 2
10-96348047-A-G c.1388A>G p.K463R Missense 13/22 - 1
10-96348049-C-T c.1390C>T p.R464* Nonsense 13/22 - 1
10-96348061-G-A c.1402G>A p.V468I Missense 13/22 - 1
10-96348061-GT-G c.1405del p.Y469Mfs*16 Frameshift 13/22 - 2
10-96348070-C-T c.1411C>T p.P471S Missense 13/22 - 1
10-96348073-C-G c.1414C>G p.L472V Missense 13/22 - 1
10-96348076-T-A c.1417T>A p.S473T Missense 13/22 - 1
10-96348082-A-C c.1423A>C p.K475Q Missense 13/22 - 1
10-96348100-A-G c.1441A>G p.T481A Missense 13/22 - 1
10-96348103-G-A c.1444G>A p.A482T Missense 13/22 - 3
10-96348104-C-T c.1445C>T p.A482V Missense 13/22 - 1
10-96348109-G-C c.1450G>C p.V484L Missense 13/22 - 1
10-96348109-G-T c.1450G>T p.V484L Missense 13/22 - 1
10-96348112-A-G c.1453A>G p.N485D Missense 13/22 - 1
10-96348116-G-A c.1457G>A p.R486H Missense 13/22 - 1
10-96348121-A-G c.1462A>G p.I488V Missense 13/22 - 1
10-96348124-G-A c.1465G>A p.A489T Missense 13/22 - 2
10-96348125-CA-C c.1469del p.N490Tfs*13 Frameshift 13/22 - 1
10-96348130-A-G c.1471A>G p.M491V Missense 13/22 - 1
10-96348137-G-A c.1478G>A p.G493E Missense 13/22 - 1
10-96348146-A-G c.1487A>G p.E496G Missense 13/22 - 1
10-96348153-G-A c.1488+6G>A - IntronicSNV - 13/21 1
10-96348153-G-T c.1488+6G>T - IntronicSNV - 13/21 1
10-96348161-G-A c.1488+14G>A - IntronicSNV - 13/21 1
10-96348161-G-T c.1488+14G>T - IntronicSNV - 13/21 1
10-96348210-T-C c.1488+63T>C - IntronicSNV - 13/21 1
10-96348254-G-A c.1488+107G>A - IntronicSNV - 13/21 2
10-96348334-C-T c.1488+187C>T - IntronicSNV - 13/21 2
10-96348919-A-T c.1488+772A>T - IntronicSNV - 13/21 1
10-96350175-A-C c.1494A>C p.E498D Missense 14/22 - 1
10-96350175-A-T c.1494A>T p.E498D Missense 14/22 - 1
10-96350187-A-C c.1506A>C p.L502F Missense 14/22 - 1
10-96350187-A-T c.1506A>T p.L502F Missense 14/22 - 2
10-96350188-AG-GA c.1507_1508delinsGA p.S503D Missense 14/22 - 1
10-96350188-AG-GC c.1507_1508delinsGC p.S503A Missense 14/22 - 1
10-96350188-AGT-GAG c.1507_1509delinsGAG p.S503E Missense 14/22 - 1
10-96350191-C-T c.1510C>T p.P504S Missense 14/22 - 5
10-96350194-A-G c.1513A>G p.T505A Missense 14/22 - 2
10-96350200-CG-GC c.1519_1520delinsGC p.R507A Missense 14/22 - 1
10-96350202-A-G c.1521A>G p.R507= Synonymous 14/22 - 1
10-96350203-C-T c.1522C>T p.P508S Missense 14/22 - 1
10-96350206-A-C c.1525A>C p.K509Q Missense 14/22 - 1
10-96350209-C-T c.1528C>T p.R510* Nonsense 14/22 - 4
10-96350210-G-T c.1529G>T p.R510L Missense 14/22 - 2
10-96350212-C-A c.1531C>A p.R511= Synonymous 14/22 - 1
10-96350213-G-A c.1532G>A p.R511Q Missense 14/22 - 2
10-96350215-A-G c.1534A>G p.T512A Missense 14/22 - 1
10-96350219-GA-G c.1542del p.K514Nfs*3 Frameshift 14/22 - 2
10-96350225-CA-C c.1546del p.I516* Frameshift 14/22 - 1
10-96350229-A-G c.1548A>G p.I516M Missense 14/22 - 1
10-96350230-A-C c.1549A>C p.N517H Missense 14/22 - 3
10-96350237-G-C c.1556G>C p.S519T Missense 14/22 - 1
10-96350240-A-C c.1559A>C p.K520T Missense 14/22 - 1
10-96350247-T-A c.1566T>A p.D522E Missense 14/22 - 1
10-96350248-G-T c.1567G>T p.D523Y Missense 14/22 - 1
10-96350253-C-T c.1572C>T p.F524= Synonymous 14/22 - 3
10-96350255-C-G c.1574C>G p.P525R Missense 14/22 - 1
10-96350255-C-T c.1574C>T p.P525L Missense 14/22 - 1
10-96350260-G-T c.1579G>T p.E527* Nonsense 14/22 - 1
10-96350261-A-C c.1580A>C p.E527A Missense 14/22 - 2
10-96350274-G-C c.1593G>C p.L531= Synonymous 14/22 - 1
10-96350289-G-A c.1608G>A p.Q536= Synonymous 14/22 - 2
10-96350290-C-G c.1609C>G p.P537A Missense 14/22 - 1
10-96350292-A-C c.1611A>C p.P537= Synonymous 14/22 - 1
10-96350292-A-G c.1611A>G p.P537= Synonymous 14/22 - 1
10-96350292-A-T c.1611A>T p.P537= Synonymous 14/22 - 1
10-96350297-T-C c.1616T>C p.V539A Missense 14/22 - 1
10-96350297-T-G c.1616T>G p.V539G Missense 14/22 - 1
10-96350301-C-T c.1620C>T p.D540= Synonymous 14/22 - 1
10-96350302-CG-GC c.1621_1622delinsGC p.R541A Missense 14/22 - 1
10-96350306-A-G c.1625A>G p.E542G Missense 14/22 - 1
10-96350308-A-T c.1627A>T p.R543* Nonsense 14/22 - 1
10-96350396-G-A c.1630G>A p.A544T Missense 15/22 - 1
10-96350399-GTT-ATG c.1633_1635delinsATG p.V545M Missense 15/22 - 1
10-96350414-A-C c.1648A>C p.I550L Missense 15/22 - 1
10-96350416-C-G c.1650C>G p.I550M Missense 15/22 - 1
10-96350416-C-T c.1650C>T p.I550= Synonymous 15/22 - 1
10-96350417-C-T c.1651C>T p.P551S Missense 15/22 - 1
10-96350418-C-T c.1652C>T p.P551L Missense 15/22 - 1
10-96350426-TC-CT c.1660_1661delinsCT p.S554L Missense 15/22 - 1
10-96350461-G-A c.1695G>A p.M565I Missense 15/22 - 1
10-96350466-T-C c.1700T>C p.L567P Missense 15/22 - 1
10-96350468-C-T c.1702C>T p.R568C Missense 15/22 - 3
10-96350472-A-G c.1706A>G p.K569R Missense 15/22 - 1
10-96350477-T-C c.1711T>C p.C571R Missense 15/22 - 1
10-96350483-C-T c.1717C>T p.H573Y Missense 15/22 - 1
10-96350507-A-G c.1741A>G p.I581V Missense 15/22 - 1
10-96350513-C-G c.1747C>G p.P583A Missense 15/22 - 1
10-96350515-T-A c.1749T>A p.P583= Synonymous 15/22 - 1
10-96350515-T-C c.1749T>C p.P583= Synonymous 15/22 - 1
10-96350515-T-G c.1749T>G p.P583= Synonymous 15/22 - 1
10-96350525-G-T c.1759G>T p.E587* Nonsense 15/22 - 1
10-96350527-A-G c.1761A>G p.E587= Synonymous 15/22 - 1
10-96351988-C-T c.1770C>T p.I590= Synonymous 16/22 - 1
10-96351989-G-A c.1771G>A p.D591N Missense 16/22 - 2
10-96351995-G-C c.1777G>C p.E593Q Missense 16/22 - 1
10-96351997-A-G c.1779A>G p.E593= Synonymous 16/22 - 1
10-96351999-T-C c.1781T>C p.L594S Missense 16/22 - 1
10-96352000-G-T c.1782G>T p.L594F Missense 16/22 - 1
10-96352001-G-T c.1783G>T p.V595L Missense 16/22 - 1
10-96352004-A-G c.1786A>G p.T596A Missense 16/22 - 1
10-96352007-A-C c.1789A>C p.N597H Missense 16/22 - 1
10-96352007-A-G c.1789A>G p.N597D Missense 16/22 - 2
10-96352011-C-T c.1793C>T p.S598F Missense 16/22 - 1
10-96352014-G-C c.1796G>C p.G599A Missense 16/22 - 1
10-96352015-G-A c.1797G>A p.G599= Synonymous 16/22 - 1
10-96352015-G-C c.1797G>C p.G599= Synonymous 16/22 - 1
10-96352015-G-T c.1797G>T p.G599= Synonymous 16/22 - 1
10-96352035-G-A c.1817G>A p.R606Q Missense 16/22 - 1
10-96352037-A-G c.1819A>G p.M607V Missense 16/22 - 1
10-96352044-C-T c.1826C>T p.P609L Missense 16/22 - 1
10-96352050-T-A c.1832T>A p.L611Q Missense 16/22 - 1
10-96352050-TA-T c.1840del p.R614Efs*11 Frameshift 16/22 - 6
10-96352050-T-TA c.1840dup p.R614Kfs*33 Frameshift 16/22 - 2
10-96352058-AGA-TGT c.1840_1842delinsTGT p.R614C Missense 16/22 - 1
10-96352059-G-A c.1841G>A p.R614K Missense 16/22 - 1
10-96352062-G-A c.1844G>A p.G615D Missense 16/22 - 1
10-96352063-T-G c.1845T>G p.G615= Synonymous 16/22 - 3
10-96352065-A-G c.1847A>G p.H616R Missense 16/22 - 1
10-96352069-G-A c.1851G>A p.K617= Synonymous 16/22 - 1
10-96352155-C-A c.1855C>A p.L619M Missense 17/22 - 1
10-96352158-C-CT c.1864dup p.S622Ffs*25 Frameshift 17/22 - 1
10-96352164-T-G c.1864T>G p.S622A Missense 17/22 - 1
10-96352185-G-A c.1885G>A p.D629N Missense 17/22 - 1
10-96352186-A-G c.1886A>G p.D629G Missense 17/22 - 1
10-96352192-T-C c.1892T>C p.L631S Missense 17/22 - 2
10-96352194-A-G c.1894A>G p.M632V Missense 17/22 - 1
10-96352224-T-C c.1924T>C p.F642L Missense 17/22 - 1
10-96352226-C-A c.1926C>A p.F642L Missense 17/22 - 1
10-96352226-C-G c.1926C>G p.F642L Missense 17/22 - 1
10-96352226-C-T c.1926C>T p.F642= Synonymous 17/22 - 1
10-96352231-G-T c.1931G>T p.R644M Missense 17/22 - 2
10-96352234-T-A c.1934T>A p.L645H Missense 17/22 - 1
10-96352241-G-A c.1941G>A p.G647= Synonymous 17/22 - 3
10-96352241-G-C c.1941G>C p.G647= Synonymous 17/22 - 2
10-96352241-G-T c.1941G>T p.G647= Synonymous 17/22 - 2
10-96352255-TC-T c.1955del p.S652* Frameshift 17/22 - 1
10-96352257-G-A c.1957G>A p.E653K Missense 17/22 - 1
10-96352262-A-AT c.1962_1963insT p.E655* Nonsense 17/22 - 1
10-96352263-G-A c.1963G>A p.E655K Missense 17/22 - 1
10-96352265-A-G c.1965A>G p.E655= Synonymous 17/22 - 3
10-96352268-A-AT c.1968_1969insT p.N657* Nonsense 17/22 - 1
10-96352263-GA-G c.1970del p.N657Tfs*15 Frameshift 17/22 - 1
10-96352263-G-GA c.1970dup p.N657Kfs*26 SpliceDonorInsertion 17/22 - 1
10-96352271-C-T c.1971C>T p.N657= Synonymous 17/22 - 1
10-96352272-G-A c.1971+1G>A - IntronicSNV - 17/21 1
10-96352282-T-G c.1971+11T>G - IntronicSNV - 17/21 1
10-96353201-G-A c.1972-55G>A - IntronicSNV - 17/21 5
10-96353262-CA-C c.1978del p.S660Afs*12 Frameshift 18/22 - 1
10-96353264-C-T c.1980C>T p.S660= Synonymous 18/22 - 1
10-96353265-T-C c.1981T>C p.F661L Missense 18/22 - 1
10-96353267-C-A c.1983C>A p.F661L Missense 18/22 - 1
10-96353267-C-G c.1983C>G p.F661L Missense 18/22 - 1
10-96353268-A-C c.1984A>C p.N662H Missense 18/22 - 1
10-96353272-C-T c.1988C>T p.T663M Missense 18/22 - 1
10-96353273-G-A c.1989G>A p.T663= Synonymous 18/22 - 1
10-96353273-G-T c.1989G>T p.T663= Synonymous 18/22 - 1
10-96353277-C-G c.1993C>G p.P665A Missense 18/22 - 1
10-96353283-G-C c.1999G>C p.V667L Missense 18/22 - 1
10-96353283-G-T c.1999G>T p.V667L Missense 18/22 - 1
10-96353283-GTG-ATC c.1999_2001delinsATC p.V667I Missense 18/22 - 1
10-96353285-G-GT c.2004dup p.I669Yfs*14 Frameshift 18/22 - 1
10-96353289-A-G c.2005A>G p.I669V Missense 18/22 - 1
10-96353307-C-T c.2023C>T p.R675* Nonsense 18/22 - 1
10-96353308-G-A c.2024G>A p.R675Q Missense 18/22 - 1
10-96353311-C-T c.2027C>T p.A676V Missense 18/22 - 1
10-96353314-G-C c.2030G>C p.G677A Missense 18/22 - 1
10-96353325-A-G c.2041A>G p.I681V Missense 18/22 - 1
10-96353340-G-A c.2056G>A p.A686T Missense 18/22 - 1
10-96353345-T-C c.2061T>C p.D687= Synonymous 18/22 - 1
10-96353349-G-A c.2065G>A p.V689I Missense 18/22 - 1
10-96353362-A-T c.2078A>T p.D693V Missense 18/22 - 1
10-96353422-ATT-A c.2088+64_2088+65del - IntronicDeletion - 18/21 1
10-96353422-AT-A c.2088+65del - IntronicDeletion - 18/21 2
10-96353497-G-A c.2088+125G>A - IntronicSNV - 18/21 1
10-96354284-G-A c.2089-168G>A - IntronicSNV - 18/21 1
10-96354459-A-G c.2096A>G p.Q699R Missense 19/22 - 4
10-96354462-C-T c.2099C>T p.S700L Missense 19/22 - 2
10-96354463-G-A c.2100G>A p.S700= Synonymous 19/22 - 5
10-96354463-G-C c.2100G>C p.S700= Synonymous 19/22 - 2
10-96354463-G-T c.2100G>T p.S700= Synonymous 19/22 - 3
10-96354464-G-A c.2101G>A p.D701N Missense 19/22 - 1
10-96354465-A-T c.2102A>T p.D701V Missense 19/22 - 2
10-96354472-G-A c.2109G>A p.Q703= Synonymous 19/22 - 1
10-96354481-T-C c.2118T>C p.D706= Synonymous 19/22 - 1
10-96354485-TG-AC c.2122_2123delinsAC p.C708T Missense 19/22 - 1
10-96354490-T-C c.2127T>C p.H709= Synonymous 19/22 - 1
10-96354506-A-G c.2143A>G p.K715E Missense 19/22 - 1
10-96354508-G-A c.2145G>A p.K715= Synonymous 19/22 - 1
10-96354517-T-G c.2154T>G p.V718= Synonymous 19/22 - 1
10-96354518-G-A c.2155G>A p.V719I Missense 19/22 - 1
10-96354525-G-A c.2162G>A p.R721H Missense 19/22 - 2
10-96354526-C-T c.2163C>T p.R721= Synonymous 19/22 - 3
10-96354536-G-A c.2173G>A p.A725T Missense 19/22 - 1
10-96354539-A-G c.2176A>G p.N726D Missense 19/22 - 1
10-96354545-A-G c.2182A>G p.I728V Missense 19/22 - 2
10-96354548-G-A c.2185G>A p.D729N Missense 19/22 - 3
10-96354552-CA-C c.2189del p.Q730Rfs*16 Frameshift 19/22 - 1
10-96354566-A-G c.2203A>G p.R735G Missense 19/22 - 1
10-96354570-C-A c.2207C>A p.A736E Missense 19/22 - 3
10-96354570-C-T c.2207C>T p.A736V Missense 19/22 - 2
10-96354572-G-A c.2209G>A p.A737T Missense 19/22 - 2
10-96354585-A-T c.2222A>T p.K741I Missense 19/22 - 1
10-96354587-C-G c.2224C>G p.L742V Missense 19/22 - 1
10-96354587-C-T c.2224C>T p.L742= Synonymous 19/22 - 1
10-96354591-A-G c.2228A>G p.E743G Missense 19/22 - 2
10-96354626-T-C c.2248+15T>C - IntronicSNV - 19/21 1
10-96354769-G-A c.2248+158G>A - IntronicSNV - 19/21 1
10-96354848-G-A c.2248+237G>A - IntronicSNV - 19/21 1
10-96356571-A-T c.2249-46A>T - IntronicSNV - 19/21 4
10-96356618-T-C c.2250T>C p.N750= Synonymous 20/22 - 1
10-96356619-C-G c.2251C>G p.H751D Missense 20/22 - 1
10-96356619-C-T c.2251C>T p.H751Y Missense 20/22 - 1
10-96356623-T-C c.2255T>C p.F752S Missense 20/22 - 1
10-96356633-T-A c.2265T>A p.G755= Synonymous 20/22 - 1
10-96356633-T-C c.2265T>C p.G755= Synonymous 20/22 - 1
10-96356633-T-G c.2265T>G p.G755= Synonymous 20/22 - 1
10-96356634-C-T c.2266C>T p.Q756* Nonsense 20/22 - 1
10-96356647-ATCTG-A c.2283_2286del p.S762Rfs*4 Frameshift 20/22 - 2
10-96356651-G-A c.2283G>A p.L761= Synonymous 20/22 - 1
10-96356661-T-G c.2293T>G p.F765V Missense 20/22 - 1
10-96356672-T-C c.2304T>C p.P768= Synonymous 20/22 - 1
10-96356685-G-T c.2317G>T p.E773* Nonsense 20/22 - 1
10-96356698-C-G c.2330C>G p.S777C Missense 20/22 - 1
10-96356703-G-C c.2335G>C p.D779H Missense 20/22 - 1
10-96356800-A-G c.2354A>G p.K785R Missense 21/22 - 1
10-96356801-A-G c.2355A>G p.K785= Synonymous 21/22 - 1
10-96356811-G-T c.2365G>T p.E789* Nonsense 21/22 - 1
10-96356812-A-G c.2366A>G p.E789G Missense 21/22 - 1
10-96356816-G-A c.2370G>A p.K790= Synonymous 21/22 - 1
10-96356816-G-T c.2370G>T p.K790N Missense 21/22 - 1
10-96356820-A-G c.2374A>G p.I792V Missense 21/22 - 2
10-96356822-T-A c.2376T>A p.I792= Synonymous 21/22 - 1
10-96356822-T-C c.2376T>C p.I792= Synonymous 21/22 - 1
10-96356824-G-C c.2378G>C p.S793T Missense 21/22 - 1
10-96356837-A-C c.2391A>C p.L797= Synonymous 21/22 - 1
10-96356838-G-A c.2392G>A p.E798K Missense 21/22 - 3
10-96356841-TT-CC c.2395_2396delinsCC p.L799P Missense 21/22 - 1
10-96356843-G-C c.2397G>C p.L799F Missense 21/22 - 1
10-96356843-G-T c.2397G>T p.L799F Missense 21/22 - 1
10-96356839-AGTT-A c.2400_2402del p.L801del InFrameDeletion 21/22 - 3
10-96356847-GTTA-G c.2401_2403del p.L801del InFrameDeletion 21/22 - 3
10-96356854-G-A c.2408G>A p.R803Q Missense 21/22 - 4
10-96356866-T-G c.2420T>G p.I807S Missense 21/22 - 1
10-96356881-CT-C c.2422+21del - IntronicDeletion - 21/21 1
10-96356902-G-A c.2422+34G>A - IntronicSNV - 21/21 1
10-96357022-A-G c.2422+154A>G - IntronicSNV - 21/21 3
10-96359362-C-G c.2423-1923C>G - IntronicSNV - 21/21 1
10-96361293-A-T c.2431A>T p.N811Y Missense 22/22 - 1
10-96361294-A-G c.2432A>G p.N811S Missense 22/22 - 1
10-96361296-G-A c.2434G>A p.A812T Missense 22/22 - 2
10-96361300-C-A c.2438C>A p.S813* Nonsense 22/22 - 1
10-96361300-C-G c.2438C>G p.S813* Nonsense 22/22 - 1
10-96361300-C-T c.2438C>T p.S813L Missense 22/22 - 1
10-96361308-A-T c.2446A>T p.I816F Missense 22/22 - 1
10-96361309-T-A c.2447T>A p.I816N Missense 22/22 - 1
10-96361316-G-T c.2454G>T p.E818D Missense 22/22 - 1
10-96361321-T-A c.2459T>A p.M820K Missense 22/22 - 1
10-96361323-G-A c.2461G>A p.G821R Missense 22/22 - 1
10-96361328-A-G c.2466A>G p.I822M Missense 22/22 - 2
10-96361331-C-T c.2469C>T p.F823= Synonymous 22/22 - 1
10-96361341-G-T c.2479G>T p.E827* Nonsense 22/22 - 2
10-96361344-A-C c.2482A>C p.N828H Missense 22/22 - 1
10-96361347-TC-AT c.2485_2486delinsAT p.S829I Missense 22/22 - 1
10-96361354-A-T c.2492A>T p.D831V Missense 22/22 - 1
10-96361355-T-G c.2493T>G p.D831E Missense 22/22 - 1
10-96361358-C-A c.2496C>A p.S832= Synonymous 22/22 - 1
10-96361358-C-G c.2496C>G p.S832= Synonymous 22/22 - 1
10-96361358-C-T c.2496C>T p.S832= Synonymous 22/22 - 1
10-96361362-C-A c.2500C>A p.P834T Missense 22/22 - 1
10-96361363-C-T c.2501C>T p.P834L Missense 22/22 - 1
10-96361365-G-T c.2503G>T p.E835* Nonsense 22/22 - 1
10-96361370-T-C c.2508T>C p.C836= Synonymous 22/22 - 1
10-96361378-A-T c.2516A>T p.*839Lext*6 Missense 22/22 - 1
10-96361776-C-G c.*397C>G - 3-UTRSNV 22/22 - 2
10-96361776-C-T c.*397C>T - 3-UTRSNV 22/22 - 2