CDR2L

CDR2L cerebellar degeneration related protein 2 like

Annotation transcript: NM_014603.3

382 unique variant annotations were identified in 223 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
17-72983888-A-C c.-251A>C - 5-UTRSNV 1/5 - 6
17-72983888-A-T c.-251A>T - 5-UTRSNV 1/5 - 6
17-72984142-C-A c.4C>A p.R2= Synonymous 1/5 - 1
17-72984144-G-A c.6G>A p.R2= Synonymous 1/5 - 1
17-72984144-G-C c.6G>C p.R2= Synonymous 1/5 - 1
17-72984144-G-T c.6G>T p.R2= Synonymous 1/5 - 1
17-72984155-G-T c.17G>T p.G6V Missense 1/5 - 1
17-72984167-T-A c.29T>A p.F10Y Missense 1/5 - 1
17-72984172-G-A c.34G>A p.A12T Missense 1/5 - 3
17-72984172-GCG-TAT c.34_36delinsTAT p.A12Y Missense 1/5 - 1
17-72984173-CG-AC c.35_36delinsAC p.A12D Missense 1/5 - 1
17-72984175-G-A c.37G>A p.E13K Missense 1/5 - 1
17-72984184-G-A c.46G>A p.E16K Missense 1/5 - 1
17-72984191-G-A c.53G>A p.W18* Nonsense 1/5 - 1
17-72984192-G-A c.54G>A p.W18* Nonsense 1/5 - 1
17-72984192-G-T c.54G>T p.W18C Missense 1/5 - 2
17-72984260-G-A c.79+43G>A - IntronicSNV - 1/4 1
17-72988772-T-C c.79+4555T>C - IntronicSNV - 1/4 1
17-72988906-G-A c.79+4689G>A - IntronicSNV - 1/4 1
17-72989377-C-G c.79+5160C>G - IntronicSNV - 1/4 1
17-72989411-C-T c.79+5194C>T - IntronicSNV - 1/4 1
17-72990447-C-A c.80-5152C>A - IntronicSNV - 1/4 1
17-72990447-C-T c.80-5152C>T - IntronicSNV - 1/4 1
17-72993323-G-A c.80-2276G>A - IntronicSNV - 1/4 1
17-72995377-C-A c.80-222C>A - IntronicSNV - 1/4 4
17-72995377-C-G c.80-222C>G - IntronicSNV - 1/4 4
17-72995412-G-A c.80-187G>A - IntronicSNV - 1/4 2
17-72995412-G-C c.80-187G>C - IntronicSNV - 1/4 2
17-72995412-G-T c.80-187G>T - IntronicSNV - 1/4 2
17-72995418-C-A c.80-181C>A - IntronicSNV - 1/4 1
17-72995420-C-A c.80-179C>A - IntronicSNV - 1/4 2
17-72995420-C-T c.80-179C>T - IntronicSNV - 1/4 2
17-72995420-C-CACAA c.80-178_80-177insCAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACAAA c.80-178_80-177insCAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACAAAA c.80-178_80-177insCAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACAAAAAA c.80-178_80-177insCAAAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACAAAAAAAA c.80-178_80-177insCAAAAAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACAA c.80-178_80-177insCACAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACAAA c.80-178_80-177insCACAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACAAAA c.80-178_80-177insCACAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACAAAAA c.80-178_80-177insCACAAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACAAAAAA c.80-178_80-177insCACAAAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACAA c.80-178_80-177insCACACAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACAAA c.80-178_80-177insCACACAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACAAAA c.80-178_80-177insCACACAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACAAAAA c.80-178_80-177insCACACAAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACAAAAAA c.80-178_80-177insCACACAAAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACAAAAAAA c.80-178_80-177insCACACAAAAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACA c.80-178_80-177insCACACACAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACAA c.80-178_80-177insCACACACAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACAAA c.80-178_80-177insCACACACAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACAAAA c.80-178_80-177insCACACACAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACAAAAAA c.80-178_80-177insCACACACAAAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACACA c.80-178_80-177insCACACACACAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACACAA c.80-178_80-177insCACACACACAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACACAAA c.80-178_80-177insCACACACACAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACACAAAA c.80-178_80-177insCACACACACAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACACACAA c.80-178_80-177insCACACACACACAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACACACAAAA c.80-178_80-177insCACACACACACAAAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACACACACAA c.80-178_80-177insCACACACACACACAAA - IntronicInsertion - 1/4 3
17-72995420-C-CACACACACACACACACAA c.80-178_80-177insCACACACACACACACAAA - IntronicInsertion - 1/4 3
17-72995556-G-A c.80-43G>A - IntronicSNV - 1/4 1
17-72995599-A-T c.80A>T p.D27V Missense 2/5 - 2
17-72995604-C-T c.85C>T p.H29Y Missense 2/5 - 1
17-72995611-CT-AG c.92_93inv p.A31E Missense 2/5 - 1
17-72995614-C-T c.95C>T p.A32V Missense 2/5 - 1
17-72995616-G-C c.97G>C p.E33Q Missense 2/5 - 1
17-72995618-G-C c.99G>C p.E33D Missense 2/5 - 1
17-72995618-G-T c.99G>T p.E33D Missense 2/5 - 1
17-72995637-G-A c.118G>A p.E40K Missense 2/5 - 3
17-72995644-A-C c.125A>C p.N42T Missense 2/5 - 2
17-72995648-G-C c.129G>C p.K43N Missense 2/5 - 1
17-72995648-G-T c.129G>T p.K43N Missense 2/5 - 1
17-72995656-A-AG c.141dup p.S48Vfs*10 Frameshift 2/5 - 1
17-72995665-T-C c.146T>C p.L49P Missense 2/5 - 1
17-72995667-C-T c.148C>T p.Q50* Nonsense 2/5 - 1
17-72995684-C-A c.165C>A p.T55= Synonymous 2/5 - 1
17-72995684-C-G c.165C>G p.T55= Synonymous 2/5 - 1
17-72995684-C-T c.165C>T p.T55= Synonymous 2/5 - 1
17-72995687-T-A c.168T>A p.N56K Missense 2/5 - 1
17-72995687-T-G c.168T>G p.N56K Missense 2/5 - 1
17-72995691-G-C c.172G>C p.E58Q Missense 2/5 - 1
17-72995708-C-T c.189C>T p.I63= Synonymous 2/5 - 3
17-72995709-G-A c.190G>A p.E64K Missense 2/5 - 1
17-72995709-G-C c.190G>C p.E64Q Missense 2/5 - 1
17-72996471-C-CA c.192+761dup - IntronicInsertion - 2/4 1
17-72997364-T-TAGG c.193-68_193-66dup - IntronicInsertion - 2/4 2
17-72997439-C-G c.196C>G p.L66V Missense 3/5 - 2
17-72997443-C-T c.200C>T p.T67I Missense 3/5 - 1
17-72997448-C-A c.205C>A p.Q69K Missense 3/5 - 1
17-72997458-C-T c.215C>T p.T72M Missense 3/5 - 5
17-72997459-G-A c.216G>A p.T72= Synonymous 3/5 - 1
17-72997459-G-C c.216G>C p.T72= Synonymous 3/5 - 1
17-72997459-G-T c.216G>T p.T72= Synonymous 3/5 - 1
17-72997462-G-A c.219G>A p.L73= Synonymous 3/5 - 1
17-72997464-G-A c.221G>A p.R74Q Missense 3/5 - 3
17-72997467-A-T c.224A>T p.H75L Missense 3/5 - 2
17-72997468-C-T c.225C>T p.H75= Synonymous 3/5 - 1
17-72997469-G-A c.226G>A p.V76M Missense 3/5 - 1
17-72997475-G-A c.232G>A p.E78K Missense 3/5 - 3
17-72997476-A-G c.233A>G p.E78G Missense 3/5 - 1
17-72997484-G-A c.241G>A p.A81T Missense 3/5 - 1
17-72997485-C-T c.242C>T p.A81V Missense 3/5 - 1
17-72997490-GTC-ATG c.247_249delinsATG p.V83M Missense 3/5 - 1
17-72997526-G-A c.283G>A p.E95K Missense 3/5 - 1
17-72997526-G-T c.283G>T p.E95* Nonsense 3/5 - 1
17-72997538-C-T c.295C>T p.H99Y Missense 3/5 - 1
17-72997553-G-C c.310G>C p.E104Q Missense 3/5 - 1
17-72997556-A-G c.313A>G p.S105G Missense 3/5 - 1
17-72997561-GG-TT c.318_319delinsTT p.K106_A107delinsNS MultiAAMissense 3/5 - 1
17-72997562-G-A c.319G>A p.A107T Missense 3/5 - 1
17-72997574-A-C c.331A>C p.K111Q Missense 3/5 - 1
17-72997583-G-T c.340G>T p.G114W Missense 3/5 - 1
17-72997585-G-T c.341+1G>T - IntronicSNV - 3/4 1
17-72997605-T-TG c.341+27dup - IntronicInsertion - 3/4 1
17-72997648-G-A c.341+64G>A - IntronicSNV - 3/4 3
17-72997657-G-A c.341+73G>A - IntronicSNV - 3/4 1
17-72998160-C-A c.343C>A p.L115M Missense 4/5 - 1
17-72998176-A-G c.359A>G p.E120G Missense 4/5 - 1
17-72998178-C-T c.361C>T p.R121C Missense 4/5 - 1
17-72998179-G-A c.362G>A p.R121H Missense 4/5 - 1
17-72998195-G-T c.378G>T p.V126= Synonymous 4/5 - 1
17-72998196-G-A c.379G>A p.E127K Missense 4/5 - 2
17-72998202-C-T c.385C>T p.L129= Synonymous 4/5 - 2
17-72998204-G-A c.387G>A p.L129= Synonymous 4/5 - 1
17-72998204-G-C c.387G>C p.L129= Synonymous 4/5 - 1
17-72998204-G-T c.387G>T p.L129= Synonymous 4/5 - 1
17-72998210-C-A c.393C>A p.A131= Synonymous 4/5 - 1
17-72998210-C-G c.393C>G p.A131= Synonymous 4/5 - 1
17-72998210-C-T c.393C>T p.A131= Synonymous 4/5 - 1
17-72998214-G-C c.397G>C p.V133L Missense 4/5 - 1
17-72998214-G-T c.397G>T p.V133L Missense 4/5 - 1
17-72998217-G-C c.400G>C p.E134Q Missense 4/5 - 1
17-72998222-A-G c.405A>G p.Q135= Synonymous 4/5 - 1
17-72998226-AGA-CAT c.409_411delinsCAT p.R137H Missense 4/5 - 1
17-72998244-C-T c.427C>T p.R143* Nonsense 4/5 - 2
17-72998247-G-A c.430G>A p.V144M Missense 4/5 - 1
17-72998253-C-A c.436C>A p.R146= Synonymous 4/5 - 3
17-72998255-G-A c.438G>A p.R146= Synonymous 4/5 - 3
17-72998255-G-C c.438G>C p.R146= Synonymous 4/5 - 3
17-72998255-G-T c.438G>T p.R146= Synonymous 4/5 - 3
17-72998254-G-A c.437G>A p.R146Q Missense 4/5 - 2
17-72998256-G-A c.439G>A p.E147K Missense 4/5 - 3
17-72998258-G-A c.441G>A p.E147= Synonymous 4/5 - 1
17-72998267-A-G c.450A>G p.E150= Synonymous 4/5 - 2
17-72998268-C-G c.451C>G p.R151G Missense 4/5 - 1
17-72998268-C-T c.451C>T p.R151C Missense 4/5 - 4
17-72998269-G-A c.452G>A p.R151H Missense 4/5 - 3
17-72998272-G-T c.455G>T p.R152M Missense 4/5 - 1
17-72998277-A-C c.460A>C p.T154P Missense 4/5 - 3
17-72998278-C-T c.461C>T p.T154I Missense 4/5 - 3
17-72998279-C-A c.462C>A p.T154= Synonymous 4/5 - 1
17-72998279-C-G c.462C>G p.T154= Synonymous 4/5 - 1
17-72998279-C-T c.462C>T p.T154= Synonymous 4/5 - 1
17-72998288-C-A c.471C>A p.T157= Synonymous 4/5 - 1
17-72998288-C-G c.471C>G p.T157= Synonymous 4/5 - 1
17-72998288-C-T c.471C>T p.T157= Synonymous 4/5 - 1
17-72998291-C-T c.474C>T p.F158= Synonymous 4/5 - 1
17-72998300-TC-T c.483del p.K162Rfs*45 Frameshift 4/5 - 1
17-72998312-C-T c.495C>T p.C165= Synonymous 4/5 - 1
17-72998314-C-T c.497C>T p.T166I Missense 4/5 - 1
17-72998317-G-A c.500G>A p.S167N Missense 4/5 - 3
17-72998322-C-G c.505C>G p.R169G Missense 4/5 - 1
17-72998329-T-G c.506+6T>G - IntronicSNV - 4/4 1
17-72999280-G-A c.509G>A p.C170Y Missense 5/5 - 1
17-72999294-C-T c.523C>T p.R175C Missense 5/5 - 2
17-72999297-CTA-ATG c.526_528delinsATG p.L176M Missense 5/5 - 1
17-72999304-G-T c.533G>T p.S178I Missense 5/5 - 1
17-72999308-C-A c.537C>A p.S179= Synonymous 5/5 - 1
17-72999308-C-G c.537C>G p.S179= Synonymous 5/5 - 1
17-72999308-C-T c.537C>T p.S179= Synonymous 5/5 - 1
17-72999309-CT-C c.538del p.S180Pfs*27 Frameshift 5/5 - 1
17-72999310-C-T c.539C>T p.S180F Missense 5/5 - 3
17-72999311-C-T c.540C>T p.S180= Synonymous 5/5 - 1
17-72999322-G-A c.551G>A p.G184D Missense 5/5 - 1
17-72999325-C-T c.554C>T p.P185L Missense 5/5 - 1
17-72999342-G-A c.571G>A p.E191K Missense 5/5 - 1
17-72999351-C-T c.580C>T p.R194W Missense 5/5 - 2
17-72999354-C-T c.583C>T p.L195= Synonymous 5/5 - 1
17-72999356-G-A c.585G>A p.L195= Synonymous 5/5 - 1
17-72999356-G-C c.585G>C p.L195= Synonymous 5/5 - 1
17-72999356-G-T c.585G>T p.L195= Synonymous 5/5 - 1
17-72999368-G-A c.597G>A p.V199= Synonymous 5/5 - 1
17-72999373-C-A c.602C>A p.A201E Missense 5/5 - 1
17-72999373-C-T c.602C>T p.A201V Missense 5/5 - 1
17-72999377-G-GC c.607dup p.R203Pfs*82 Frameshift 5/5 - 1
17-72999378-C-T c.607C>T p.R203C Missense 5/5 - 4
17-72999379-G-C c.608G>C p.R203P Missense 5/5 - 1
17-72999380-C-A c.609C>A p.R203= Synonymous 5/5 - 1
17-72999382-C-T c.611C>T p.S204F Missense 5/5 - 1
17-72999384-CCAGG-C c.613_616del p.Q205* Frameshift 5/5 - 1
17-72999390-AGC-TGA c.619_621delinsTGA p.S207* Nonsense 5/5 - 1
17-72999390-GA-G c.619del p.S207Afs*51 Frameshift 5/5 - 1
17-72999392-C-CT c.621_622insT p.Q208Sfs*77 Frameshift 5/5 - 1
17-72999394-A-ACCTG c.623_624insCCTG p.Q208Hfs*78 Frameshift 5/5 - 1
17-72999399-CG-C c.630del p.Q211Sfs*47 Frameshift 5/5 - 1
17-72999401-G-A c.630G>A p.R210= Synonymous 5/5 - 2
17-72999411-G-A c.640G>A p.E214K Missense 5/5 - 2
17-72999414-CG-AA c.643_644delinsAA p.R215K Missense 5/5 - 1
17-72999414-C-T c.643C>T p.R215W Missense 5/5 - 2
17-72999420-G-A c.649G>A p.E217K Missense 5/5 - 1
17-72999423-C-A c.652C>A p.R218S Missense 5/5 - 1
17-72999424-G-A c.653G>A p.R218H Missense 5/5 - 1
17-72999430-A-G c.659A>G p.Y220C Missense 5/5 - 1
17-72999433-C-T c.662C>T p.T221I Missense 5/5 - 1
17-72999435-G-A c.664G>A p.A222T Missense 5/5 - 1
17-72999441-C-T c.670C>T p.L224= Synonymous 5/5 - 2
17-72999443-G-A c.672G>A p.L224= Synonymous 5/5 - 1
17-72999443-G-C c.672G>C p.L224= Synonymous 5/5 - 1
17-72999443-G-T c.672G>T p.L224= Synonymous 5/5 - 1
17-72999452-C-A c.681C>A p.Y227* Nonsense 5/5 - 1
17-72999452-C-G c.681C>G p.Y227* Nonsense 5/5 - 1
17-72999465-CGC-TGG c.694_696delinsTGG p.R232W Missense 5/5 - 1
17-72999465-C-T c.694C>T p.R232C Missense 5/5 - 1
17-72999466-G-A c.695G>A p.R232H Missense 5/5 - 2
17-72999466-GC-AA c.695_696delinsAA p.R232Q Missense 5/5 - 1
17-72999471-CTG-TTT c.700_702delinsTTT p.L234F Missense 5/5 - 1
17-72999472-T-A c.701T>A p.L234Q Missense 5/5 - 1
17-72999476-C-T c.705C>T p.C235= Synonymous 5/5 - 1
17-72999477-G-T c.706G>T p.E236* Nonsense 5/5 - 1
17-72999495-C-A c.724C>A p.L242M Missense 5/5 - 1
17-72999495-C-T c.724C>T p.L242= Synonymous 5/5 - 2
17-72999497-G-A c.726G>A p.L242= Synonymous 5/5 - 2
17-72999497-G-C c.726G>C p.L242= Synonymous 5/5 - 2
17-72999497-G-T c.726G>T p.L242= Synonymous 5/5 - 2
17-72999513-G-A c.742G>A p.E248K Missense 5/5 - 3
17-72999528-G-A c.757G>A p.E253K Missense 5/5 - 1
17-72999537-C-T c.766C>T p.Q256* Nonsense 5/5 - 1
17-72999543-A-C c.772A>C p.K258Q Missense 5/5 - 1
17-72999555-A-G c.784A>G p.T262A Missense 5/5 - 1
17-72999561-CTA-ATG c.790_792delinsATG p.L264M Missense 5/5 - 1
17-72999572-G-A c.801G>A p.P267= Synonymous 5/5 - 1
17-72999572-G-C c.801G>C p.P267= Synonymous 5/5 - 1
17-72999572-G-T c.801G>T p.P267= Synonymous 5/5 - 1
17-72999576-G-T c.805G>T p.D269Y Missense 5/5 - 1
17-72999591-G-C c.820G>C p.A274P Missense 5/5 - 1
17-72999600-G-A c.829G>A p.A277T Missense 5/5 - 1
17-72999604-C-T c.833C>T p.P278L Missense 5/5 - 1
17-72999605-C-T c.834C>T p.P278= Synonymous 5/5 - 1
17-72999610-C-T c.839C>T p.T280M Missense 5/5 - 1
17-72999621-G-A c.850G>A p.E284K Missense 5/5 - 1
17-72999629-C-T c.858C>T p.D286= Synonymous 5/5 - 1
17-72999630-G-A c.859G>A p.D287N Missense 5/5 - 1
17-72999632-T-C c.861T>C p.D287= Synonymous 5/5 - 1
17-72999640-C-T c.869C>T p.P290L Missense 5/5 - 1
17-72999642-G-A c.871G>A p.G291S Missense 5/5 - 2
17-72999645-C-T c.874C>T p.R292C Missense 5/5 - 1
17-72999654-G-A c.883G>A p.D295N Missense 5/5 - 2
17-72999663-G-A c.892G>A p.A298T Missense 5/5 - 1
17-72999664-C-G c.893C>G p.A298G Missense 5/5 - 1
17-72999669-G-A c.898G>A p.D300N Missense 5/5 - 1
17-72999671-C-A c.900C>A p.D300E Missense 5/5 - 7
17-72999671-C-G c.900C>G p.D300E Missense 5/5 - 3
17-72999671-C-T c.900C>T p.D300= Synonymous 5/5 - 1
17-72999672-G-T c.901G>T p.G301W Missense 5/5 - 2
17-72999673-G-A c.902G>A p.G301E Missense 5/5 - 1
17-72999674-G-A c.903G>A p.G301= Synonymous 5/5 - 1
17-72999674-G-C c.903G>C p.G301= Synonymous 5/5 - 1
17-72999674-G-T c.903G>T p.G301= Synonymous 5/5 - 1
17-72999675-G-T c.904G>T p.V302F Missense 5/5 - 1
17-72999678-TC-CT c.907_908delinsCT p.S303L Missense 5/5 - 1
17-72999679-C-T c.908C>T p.S303F Missense 5/5 - 1
17-72999684-C-A c.913C>A p.P305T Missense 5/5 - 1
17-72999691-CCTCTCCAGGCCACGTGGTGCG-C c.922_942del p.S308_R314del InFrameDeletion 5/5 - 1
17-72999696-C-A c.925C>A p.P309T Missense 5/5 - 1
17-72999708-G-A c.937G>A p.V313M Missense 5/5 - 1
17-72999711-CGC-ATG c.940_942delinsATG p.R314M Missense 5/5 - 1
17-72999712-G-A c.941G>A p.R314H Missense 5/5 - 1
17-72999717-A-C c.946A>C p.S316R Missense 5/5 - 1
17-72999719-C-A c.948C>A p.S316R Missense 5/5 - 1
17-72999719-C-G c.948C>G p.S316R Missense 5/5 - 1
17-72999722-C-A c.951C>A p.C317* Nonsense 5/5 - 1
17-72999725-C-T c.954C>T p.S318= Synonymous 5/5 - 2
17-72999746-C-A c.975C>A p.I325= Synonymous 5/5 - 1
17-72999750-G-A c.979G>A p.A327T Missense 5/5 - 1
17-72999756-G-A c.985G>A p.D329N Missense 5/5 - 1
17-72999759-C-T c.988C>T p.P330S Missense 5/5 - 1
17-72999767-C-T c.996C>T p.S332= Synonymous 5/5 - 1
17-72999773-C-T c.1002C>T p.H334= Synonymous 5/5 - 13
17-72999775-C-T c.1004C>T p.A335V Missense 5/5 - 1
17-72999776-G-A c.1005G>A p.A335= Synonymous 5/5 - 1
17-72999776-G-C c.1005G>C p.A335= Synonymous 5/5 - 1
17-72999776-G-T c.1005G>T p.A335= Synonymous 5/5 - 1
17-72999795-G-A c.1024G>A p.A342T Missense 5/5 - 5
17-72999796-C-T c.1025C>T p.A342V Missense 5/5 - 1
17-72999797-C-CT c.1026_1027insT p.N343* Nonsense 5/5 - 1
17-72999803-C-T c.1032C>T p.S344= Synonymous 5/5 - 2
17-72999806-G-A c.1035G>A p.V345= Synonymous 5/5 - 2
17-72999807-C-T c.1036C>T p.R346C Missense 5/5 - 1
17-72999808-G-A c.1037G>A p.R346H Missense 5/5 - 1
17-72999811-A-G c.1040A>G p.K347R Missense 5/5 - 1
17-72999813-C-G c.1042C>G p.R348G Missense 5/5 - 1
17-72999813-CGG-TGT c.1042_1044delinsTGT p.R348C Missense 5/5 - 1
17-72999813-C-T c.1042C>T p.R348W Missense 5/5 - 2
17-72999814-G-A c.1043G>A p.R348Q Missense 5/5 - 1
17-72999822-T-A c.1051T>A p.S351T Missense 5/5 - 2
17-72999839-G-A c.1068G>A p.V356= Synonymous 5/5 - 1
17-72999839-G-C c.1068G>C p.V356= Synonymous 5/5 - 1
17-72999839-G-T c.1068G>T p.V356= Synonymous 5/5 - 1
17-72999843-G-T c.1072G>T p.E358* Nonsense 5/5 - 1
17-72999856-C-T c.1085C>T p.A362V Missense 5/5 - 1
17-72999867-A-C c.1096A>C p.K366Q Missense 5/5 - 1
17-72999869-G-A c.1098G>A p.K366= Synonymous 5/5 - 1
17-72999872-C-T c.1101C>T p.Y367= Synonymous 5/5 - 1
17-72999873-G-A c.1102G>A p.E368K Missense 5/5 - 3
17-72999879-C-T c.1108C>T p.L370= Synonymous 5/5 - 1
17-72999881-G-A c.1110G>A p.L370= Synonymous 5/5 - 2
17-72999881-G-C c.1110G>C p.L370= Synonymous 5/5 - 1
17-72999881-G-T c.1110G>T p.L370= Synonymous 5/5 - 1
17-72999890-G-A c.1119G>A p.K373= Synonymous 5/5 - 1
17-72999894-C-T c.1123C>T p.R375W Missense 5/5 - 3
17-72999895-G-C c.1124G>C p.R375P Missense 5/5 - 2
17-72999905-G-T c.1134G>T p.G378= Synonymous 5/5 - 1
17-72999909-G-A c.1138G>A p.G380R Missense 5/5 - 5
17-72999909-G-C c.1138G>C p.G380R Missense 5/5 - 2
17-72999912-G-A c.1141G>A p.V381M Missense 5/5 - 1
17-72999922-C-G c.1151C>G p.A384G Missense 5/5 - 1
17-72999924-G-C c.1153G>C p.G385R Missense 5/5 - 4
17-72999937-C-T c.1166C>T p.S389L Missense 5/5 - 2
17-72999938-G-A c.1167G>A p.S389= Synonymous 5/5 - 1
17-72999938-G-C c.1167G>C p.S389= Synonymous 5/5 - 1
17-72999938-G-T c.1167G>T p.S389= Synonymous 5/5 - 1
17-72999940-G-A c.1169G>A p.R390H Missense 5/5 - 1
17-72999943-C-T c.1172C>T p.P391L Missense 5/5 - 2
17-72999950-C-A c.1179C>A p.S393= Synonymous 5/5 - 1
17-72999950-C-G c.1179C>G p.S393= Synonymous 5/5 - 1
17-72999950-C-T c.1179C>T p.S393= Synonymous 5/5 - 1
17-72999951-C-T c.1180C>T p.R394W Missense 5/5 - 2
17-72999952-G-A c.1181G>A p.R394Q Missense 5/5 - 1
17-72999957-A-C c.1186A>C p.S396R Missense 5/5 - 1
17-72999961-C-T c.1190C>T p.S397L Missense 5/5 - 3
17-72999962-G-C c.1191G>C p.S397= Synonymous 5/5 - 1
17-72999967-G-C c.1196G>C p.R399T Missense 5/5 - 1
17-72999971-C-A c.1200C>A p.D400E Missense 5/5 - 1
17-72999971-C-G c.1200C>G p.D400E Missense 5/5 - 3
17-72999973-T-G c.1202T>G p.L401R Missense 5/5 - 1
17-72999975-C-T c.1204C>T p.R402C Missense 5/5 - 3
17-72999977-C-T c.1206C>T p.R402= Synonymous 5/5 - 2
17-72999981-G-T c.1210G>T p.G404C Missense 5/5 - 1
17-72999983-T-G c.1212T>G p.G404= Synonymous 5/5 - 1
17-72999987-G-C c.1216G>C p.E406Q Missense 5/5 - 1
17-72999989-G-A c.1218G>A p.E406= Synonymous 5/5 - 1
17-72999999-G-T c.1228G>T p.E410* Nonsense 5/5 - 2
17-73000002-G-A c.1231G>A p.V411I Missense 5/5 - 1
17-73000012-G-T c.1241G>T p.G414V Missense 5/5 - 1
17-73000021-G-T c.1250G>T p.S417I Missense 5/5 - 1
17-73000026-AG-TT c.1255_1256delinsTT p.S419F Missense 5/5 - 1
17-73000034-C-A c.1263C>A p.H421Q Missense 5/5 - 2
17-73000034-C-G c.1263C>G p.H421Q Missense 5/5 - 1
17-73000035-G-A c.1264G>A p.V422M Missense 5/5 - 1
17-73000040-G-C c.1269G>C p.E423D Missense 5/5 - 2
17-73000040-G-T c.1269G>T p.E423D Missense 5/5 - 4
17-73000041-G-A c.1270G>A p.A424T Missense 5/5 - 1
17-73000053-C-T c.1282C>T p.R428W Missense 5/5 - 12
17-73000060-A-G c.1289A>G p.E430G Missense 5/5 - 1
17-73000061-A-G c.1290A>G p.E430= Synonymous 5/5 - 18
17-73000074-G-A c.1303G>A p.E435K Missense 5/5 - 3
17-73000078-A-G c.1307A>G p.Y436C Missense 5/5 - 1
17-73000079-C-T c.1308C>T p.Y436= Synonymous 5/5 - 1
17-73000083-G-A c.1312G>A p.A438T Missense 5/5 - 1
17-73000084-C-T c.1313C>T p.A438V Missense 5/5 - 2
17-73000085-G-A c.1314G>A p.A438= Synonymous 5/5 - 1
17-73000085-G-C c.1314G>C p.A438= Synonymous 5/5 - 1
17-73000085-G-T c.1314G>T p.A438= Synonymous 5/5 - 1
17-73000091-C-T c.1320C>T p.F440= Synonymous 5/5 - 3
17-73000103-C-T c.1332C>T p.F444= Synonymous 5/5 - 2
17-73000105-C-T c.1334C>T p.S445F Missense 5/5 - 1
17-73000112-C-A c.1341C>A p.I447= Synonymous 5/5 - 1
17-73000112-C-T c.1341C>T p.I447= Synonymous 5/5 - 2
17-73000121-C-T c.1350C>T p.T450= Synonymous 5/5 - 1
17-73000123-A-T c.1352A>T p.K451M Missense 5/5 - 1
17-73000126-C-A c.1355C>A p.A452D Missense 5/5 - 2
17-73000133-C-A c.1362C>A p.I454= Synonymous 5/5 - 1
17-73000133-C-T c.1362C>T p.I454= Synonymous 5/5 - 2
17-73000136-C-T c.1365C>T p.N455= Synonymous 5/5 - 2
17-73000137-G-A c.1366G>A p.A456T Missense 5/5 - 1
17-73000154-G-A c.1383G>A p.T461= Synonymous 5/5 - 1
17-73000154-G-T c.1383G>T p.T461= Synonymous 5/5 - 1
17-73000156-A-G c.1385A>G p.H462R Missense 5/5 - 2
17-73000193-C-T c.*24C>T - 3-UTRSNV 5/5 - 1
17-73000204-A-G c.*35A>G - 3-UTRSNV 5/5 - 1
17-73000359-C-G c.*190C>G - 3-UTRSNV 5/5 - 1