SELENON

SELENON selenoprotein N

Annotation transcript: NM_020451.3

544 unique variant annotations were identified in 363 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
1-26126722-A-G c.1A>G p.M1? Missense 1/13 - 4
1-26126724-G-A c.3G>A p.M1? Missense 1/13 - 1
1-26126728-C-T c.7C>T p.R3W Missense 1/13 - 1
1-26126729-GG-AT c.8_9delinsAT p.R3H Missense 1/13 - 1
1-26126739-GGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGC-G c.20_74del p.G7Afs*41 Frameshift 1/13 - 1
1-26126741-G-A c.20G>A p.G7D Missense 1/13 - 1
1-26126763-C-T c.42C>T p.P14= Synonymous 1/13 - 1
1-26126770-G-A c.49G>A p.A17T Missense 1/13 - 1
1-26126770-GC-AA c.49_50delinsAA p.A17N Missense 1/13 - 1
1-26126770-GC-TG c.49_50delinsTG p.A17C Missense 1/13 - 1
1-26126770-G-T c.49G>T p.A17S Missense 1/13 - 1
1-26126771-C-A c.50C>A p.A17D Missense 1/13 - 1
1-26126767-CCCG-C c.51_53del p.A18del InFrameDeletion 1/13 - 1
1-26126773-GC-CA c.52_53delinsCA p.A18Q Missense 1/13 - 1
1-26126773-GCG-AAC c.52_54delinsAAC p.A18N Missense 1/13 - 1
1-26126773-GCG-TTT c.52_54delinsTTT p.A18F Missense 1/13 - 1
1-26126785-G-A c.64G>A p.A22T Missense 1/13 - 1
1-26126785-GC-TA c.64_65delinsTA p.A22* Nonsense 1/13 - 1
1-26126789-C-T c.68C>T p.P23L Missense 1/13 - 1
1-26126794-C-G c.73C>G p.R25G Missense 1/13 - 1
1-26126797-C-T c.76C>T p.R26C Missense 1/13 - 1
1-26126806-C-T c.85C>T p.R29C Missense 1/13 - 1
1-26126808-T-A c.87T>A p.R29= Synonymous 1/13 - 1
1-26126808-T-C c.87T>C p.R29= Synonymous 1/13 - 1
1-26126808-T-G c.87T>G p.R29= Synonymous 1/13 - 1
1-26126818-C-T c.97C>T p.L33= Synonymous 1/13 - 1
1-26126821-C-T c.100C>T p.L34F Missense 1/13 - 1
1-26126839-G-A c.118G>A p.A40T Missense 1/13 - 1
1-26126839-GCC-TGG c.118_120delinsTGG p.A40W Missense 1/13 - 1
1-26126845-GC-TA c.124_125delinsTA p.A42Y Missense 1/13 - 1
1-26126851-G-A c.130G>A p.A44T Missense 1/13 - 1
1-26126851-G-T c.130G>T p.A44S Missense 1/13 - 1
1-26126866-T-A c.145T>A p.C49S Missense 1/13 - 1
1-26126867-G-C c.146G>C p.C49S Missense 1/13 - 2
1-26126868-C-T c.147C>T p.C49= Synonymous 1/13 - 1
1-26126875-C-G c.154C>G p.H52D Missense 1/13 - 1
1-26126877-C-A c.156C>A p.H52Q Missense 1/13 - 1
1-26126877-C-G c.156C>G p.H52Q Missense 1/13 - 1
1-26126876-ACGCCGAGGCCCAGGCGGCCGCGCGGCAGGTCCGGG-A c.157_183+8del - SpliceDonorDeletion 1/13 1/12 1
1-26126879-CC-AG c.158_159delinsAG p.A53E Missense 1/13 - 1
1-26126883-G-C c.162G>C p.E54D Missense 1/13 - 1
1-26126883-G-T c.162G>T p.E54D Missense 1/13 - 1
1-26126884-G-A c.163G>A p.A55T Missense 1/13 - 1
1-26126896-G-A c.175G>A p.A59T Missense 1/13 - 1
1-26126896-GC-AA c.175_176delinsAA p.A59K Missense 1/13 - 1
1-26126896-G-T c.175G>T p.A59S Missense 1/13 - 1
1-26127020-G-A c.183+116G>A - IntronicSNV - 1/12 4
1-26127020-G-C c.183+116G>C - IntronicSNV - 1/12 3
1-26127020-G-T c.183+116G>T - IntronicSNV - 1/12 3
1-26127056-G-C c.183+152G>C - IntronicSNV - 1/12 1
1-26127128-A-G c.183+224A>G - IntronicSNV - 1/12 1
1-26127202-T-G c.183+298T>G - IntronicSNV - 1/12 4
1-26127203-T-C c.183+299T>C - IntronicSNV - 1/12 4
1-26127203-T-G c.183+299T>G - IntronicSNV - 1/12 3
1-26127425-G-A c.184-109G>A - IntronicSNV - 1/12 6
1-26127534-G-T c.184G>T p.E62* Nonsense 2/13 - 2
1-26127536-A-G c.186A>G p.E62= Synonymous 2/13 - 1
1-26127537-CTG-TTT c.187_189delinsTTT p.L63F Missense 2/13 - 1
1-26127541-C-A c.191C>A p.A64E Missense 2/13 - 1
1-26127541-C-T c.191C>T p.A64V Missense 2/13 - 1
1-26127557-G-A c.207G>A p.G69= Synonymous 2/13 - 2
1-26127557-G-C c.207G>C p.G69= Synonymous 2/13 - 2
1-26127557-G-T c.207G>T p.G69= Synonymous 2/13 - 3
1-26127564-G-A c.214G>A p.G72S Missense 2/13 - 2
1-26127577-T-C c.227T>C p.F76S Missense 2/13 - 1
1-26127582-TC-T c.234del p.L79Wfs*21 Frameshift 2/13 - 1
1-26127586-TG-T c.238del p.D80Tfs*20 Frameshift 2/13 - 1
1-26127589-A-C c.239A>C p.D80A Missense 2/13 - 1
1-26127589-A-G c.239A>G p.D80G Missense 2/13 - 1
1-26127591-A-G c.241A>G p.T81A Missense 2/13 - 1
1-26127597-G-A c.247G>A p.G83R Missense 2/13 - 2
1-26127597-G-C c.247G>C p.G83R Missense 2/13 - 1
1-26127599-G-A c.249G>A p.G83= Synonymous 2/13 - 2
1-26127603-A-G c.253A>G p.M85V Missense 2/13 - 2
1-26127607-A-G c.257A>G p.Y86C Missense 2/13 - 1
1-26127617-T-A c.267T>A p.P89= Synonymous 2/13 - 1
1-26127617-T-C c.267T>C p.P89= Synonymous 2/13 - 1
1-26127617-T-G c.267T>G p.P89= Synonymous 2/13 - 1
1-26127618-G-A c.268G>A p.E90K Missense 2/13 - 1
1-26127619-A-G c.269A>G p.E90G Missense 2/13 - 1
1-26127622-A-ACTGAT c.272_273insCTGAT p.E91Dfs*2 Frameshift 2/13 - 1
1-26127628-A-G c.278A>G p.K93R Missense 2/13 - 1
1-26127765-G-T c.301+114G>T - IntronicSNV - 2/12 1
1-26128307-C-G c.302-200C>G - IntronicSNV - 2/12 3
1-26128307-C-T c.302-200C>T - IntronicSNV - 2/12 3
1-26128507-G-A c.302G>A p.G101E Missense 3/13 - 1
1-26128512-TG-AC c.307_308delinsAC p.C103T Missense 3/13 - 1
1-26128518-G-T c.313G>T p.V105F Missense 3/13 - 1
1-26128521-A-G c.316A>G p.T106A Missense 3/13 - 2
1-26128523-C-A c.318C>A p.T106= Synonymous 3/13 - 1
1-26128523-C-G c.318C>G p.T106= Synonymous 3/13 - 1
1-26128523-C-T c.318C>T p.T106= Synonymous 3/13 - 1
1-26128527-A-G c.322A>G p.T108A Missense 3/13 - 4
1-26128540-G-GGGA c.336_337insGAG p.W112_C113insE InFrameInsertion 3/13 - 1
1-26128545-A-G c.340A>G p.S114G Missense 3/13 - 1
1-26128548-C-T c.343C>T p.H115Y Missense 3/13 - 1
1-26128552-G-A c.347G>A p.S116N Missense 3/13 - 1
1-26128553-C-T c.348C>T p.S116= Synonymous 3/13 - 1
1-26128567-A-G c.362A>G p.Q121R Missense 3/13 - 1
1-26128568-A-G c.363A>G p.Q121= Synonymous 3/13 - 1
1-26128572-C-T c.367C>T p.P123S Missense 3/13 - 3
1-26128581-A-G c.376A>G p.N126D Missense 3/13 - 1
1-26128587-TC-CG c.382_383delinsCG p.S128R Missense 3/13 - 1
1-26128589-C-T c.384C>T p.S128= Synonymous 3/13 - 1
1-26128594-G-A c.389G>A p.C130Y Missense 3/13 - 1
1-26128595-C-T c.390C>T p.C130= Synonymous 3/13 - 1
1-26128596-C-T c.391C>T p.L131F Missense 3/13 - 2
1-26128598-C-A c.393C>A p.L131= Synonymous 3/13 - 3
1-26128598-C-G c.393C>G p.L131= Synonymous 3/13 - 3
1-26128598-C-T c.393C>T p.L131= Synonymous 3/13 - 3
1-26128599-A-G c.394A>G p.S132G Missense 3/13 - 1
1-26128601-C-T c.396C>T p.S132= Synonymous 3/13 - 1
1-26128602-C-T c.397C>T p.L133F Missense 3/13 - 1
1-26128605-CTGAG-C c.402_403+2del - SpliceDonorDeletion 3/13 3/12 2
1-26129438-G-T c.403+830G>T - IntronicSNV - 3/12 1
1-26129631-C-T c.403+1023C>T - IntronicSNV - 3/12 2
1-26131021-T-C c.404-612T>C - IntronicSNV - 3/12 4
1-26131459-G-A c.404-174G>A - IntronicSNV - 3/12 9
1-26131459-G-C c.404-174G>C - IntronicSNV - 3/12 9
1-26131638-A-G c.409A>G p.T137A Missense 4/13 - 7
1-26131639-C-T c.410C>T p.T137I Missense 4/13 - 1
1-26131641-C-T c.412C>T p.P138S Missense 4/13 - 1
1-26131641-C-CCTCCT c.413_414insTCCTC p.A139Pfs*? Frameshift 4/13 - 1
1-26131642-C-T c.413C>T p.P138L Missense 4/13 - 1
1-26131644-G-A c.415G>A p.A139T Missense 4/13 - 2
1-26131645-C-T c.416C>T p.A139V Missense 4/13 - 1
1-26131647-GGC-G c.418_419del p.A140Qfs*? Frameshift 4/13 - 1
1-26131654-G-A c.425G>A p.C142Y Missense 4/13 - 42
1-26131655-C-T c.426C>T p.C142= Synonymous 4/13 - 2
1-26131656-G-A c.427G>A p.E143K Missense 4/13 - 2
1-26131657-A-C c.428A>C p.E143A Missense 4/13 - 1
1-26131658-GGAGGA-G c.431_435del p.E144Gfs*? Frameshift 4/13 - 1
1-26131674-C-T c.445C>T p.P149S Missense 4/13 - 3
1-26131670-GC-G c.446del p.P149Lfs*? Frameshift 4/13 - 1
1-26131675-C-T c.446C>T p.P149L Missense 4/13 - 1
1-26131683-A-C c.454A>C p.S152R Missense 4/13 - 1
1-26131685-C-A c.456C>A p.S152R Missense 4/13 - 1
1-26131685-C-G c.456C>G p.S152R Missense 4/13 - 2
1-26131685-C-T c.456C>T p.S152= Synonymous 4/13 - 1
1-26131693-C-T c.464C>T p.T155M Missense 4/13 - 1
1-26131694-G-A c.465G>A p.T155= Synonymous 4/13 - 1
1-26131694-G-C c.465G>C p.T155= Synonymous 4/13 - 1
1-26131694-G-T c.465G>T p.T155= Synonymous 4/13 - 1
1-26131696-T-C c.467T>C p.L156P Missense 4/13 - 1
1-26131697-C-A c.468C>A p.L156= Synonymous 4/13 - 1
1-26131697-C-G c.468C>G p.L156= Synonymous 4/13 - 1
1-26131697-C-T c.468C>T p.L156= Synonymous 4/13 - 1
1-26131704-G-A c.475G>A p.E159K Missense 4/13 - 2
1-26131710-CG-AT c.481_482delinsAT p.R161I Missense 4/13 - 1
1-26131710-C-T c.481C>T p.R161* Nonsense 4/13 - 1
1-26131716-C-A c.487C>A p.Q163K Missense 4/13 - 1
1-26131716-C-T c.487C>T p.Q163* Nonsense 4/13 - 1
1-26131718-G-A c.489G>A p.Q163= Synonymous 4/13 - 1
1-26131719-C-T c.490C>T p.P164S Missense 4/13 - 1
1-26131722-C-T c.493C>T p.L165= Synonymous 4/13 - 3
1-26131725-C-T c.496C>T p.L166F Missense 4/13 - 1
1-26131728-C-A c.499C>A p.P167T Missense 4/13 - 1
1-26131730-G-A c.501G>A p.P167= Synonymous 4/13 - 3
1-26131734-A-C c.505A>C p.T169P Missense 4/13 - 1
1-26131750-A-G c.521A>G p.K174R Missense 4/13 - 1
1-26131760-C-T c.531C>T p.F177= Synonymous 4/13 - 3
1-26131761-C-T c.532C>T p.L178= Synonymous 4/13 - 1
1-26133099-A-G c.537+1333A>G - IntronicSNV - 4/12 2
1-26134926-C-A c.538-145C>A - IntronicSNV - 4/12 6
1-26134926-C-G c.538-145C>G - IntronicSNV - 4/12 6
1-26135067-C-G c.538-4C>G - IntronicSNV - 4/12 1
1-26135075-C-T c.542C>T p.S181F Missense 5/13 - 1
1-26135076-C-A c.543C>A p.S181= Synonymous 5/13 - 1
1-26135076-C-G c.543C>G p.S181= Synonymous 5/13 - 1
1-26135076-C-T c.543C>T p.S181= Synonymous 5/13 - 1
1-26135078-GC-AA c.545_546delinsAA p.R182Q Missense 5/13 - 1
1-26135082-C-T c.549C>T p.L183= Synonymous 5/13 - 3
1-26135083-G-C c.550G>C p.A184P Missense 5/13 - 1
1-26135086-C-T c.553C>T p.L185= Synonymous 5/13 - 1
1-26135088-G-A c.555G>A p.L185= Synonymous 5/13 - 1
1-26135088-G-C c.555G>C p.L185= Synonymous 5/13 - 1
1-26135088-G-T c.555G>T p.L185= Synonymous 5/13 - 2
1-26135090-C-T c.557C>T p.S186F Missense 5/13 - 2
1-26135091-C-T c.558C>T p.S186= Synonymous 5/13 - 1
1-26135092-G-T c.559G>T p.G187C Missense 5/13 - 2
1-26135093-G-C c.560G>C p.G187A Missense 5/13 - 1
1-26135095-C-T c.562C>T p.L188F Missense 5/13 - 1
1-26135098-C-T c.565C>T p.R189* Nonsense 5/13 - 2
1-26135101-A-G c.568A>G p.N190D Missense 5/13 - 1
1-26135103-C-T c.570C>T p.N190= Synonymous 5/13 - 1
1-26135105-G-T c.572G>T p.W191L Missense 5/13 - 1
1-26135106-G-T c.573G>T p.W191C Missense 5/13 - 1
1-26135110-G-A c.577G>A p.A193T Missense 5/13 - 1
1-26135113-G-C c.580G>C p.A194P Missense 5/13 - 1
1-26135114-C-T c.581C>T p.A194V Missense 5/13 - 1
1-26135116-G-A c.583G>A p.A195T Missense 5/13 - 6
1-26135118-C-A c.585C>A p.A195= Synonymous 5/13 - 1
1-26135118-C-G c.585C>G p.A195= Synonymous 5/13 - 1
1-26135118-C-T c.585C>T p.A195= Synonymous 5/13 - 1
1-26135125-A-G c.592A>G p.S198G Missense 5/13 - 1
1-26135125-A-C c.592A>C p.S198R Missense 5/13 - 1
1-26135127-T-A c.594T>A p.S198R Missense 5/13 - 1
1-26135127-T-G c.594T>G p.S198R Missense 5/13 - 1
1-26135128-G-A c.595G>A p.A199T Missense 5/13 - 1
1-26135131-G-A c.598G>A p.V200M Missense 5/13 - 1
1-26135139-C-T c.606C>T p.A202= Synonymous 5/13 - 1
1-26135144-G-A c.611G>A p.R204H Missense 5/13 - 3
1-26135157-C-T c.624C>T p.P208= Synonymous 5/13 - 1
1-26135160-C-T c.627C>T p.F209= Synonymous 5/13 - 3
1-26135162-T-C c.629T>C p.L210P Missense 5/13 - 1
1-26135163-T-A c.630T>A p.L210= Synonymous 5/13 - 2
1-26135163-T-C c.630T>C p.L210= Synonymous 5/13 - 1
1-26135163-T-G c.630T>G p.L210= Synonymous 5/13 - 1
1-26135164-C-T c.631C>T p.P211S Missense 5/13 - 2
1-26135166-C-T c.633C>T p.P211= Synonymous 5/13 - 2
1-26135167-C-T c.634C>T p.P212S Missense 5/13 - 1
1-26135163-TC-T c.635del p.P212Rfs*? Frameshift 5/13 - 1
1-26135163-T-TC c.635dup p.P213Afs*? Frameshift 5/13 - 1
1-26135168-C-G c.635C>G p.P212R Missense 5/13 - 1
1-26135190-G-C c.657G>C p.E219D Missense 5/13 - 1
1-26135190-G-T c.657G>T p.E219D Missense 5/13 - 3
1-26135200-A-C c.667A>C p.I223L Missense 5/13 - 1
1-26135205-C-T c.672C>T p.I224= Synonymous 5/13 - 1
1-26135210-G-A c.677G>A p.S226N Missense 5/13 - 1
1-26135209-A-C c.676A>C p.S226R Missense 5/13 - 1
1-26135211-T-A c.678T>A p.S226R Missense 5/13 - 1
1-26135211-T-G c.678T>G p.S226R Missense 5/13 - 1
1-26135212-G-A c.679G>A p.E227K Missense 5/13 - 1
1-26135236-C-G c.703C>G p.L235V Missense 5/13 - 1
1-26135239-T-A c.706T>A p.S236T Missense 5/13 - 1
1-26135241-C-T c.708C>T p.S236= Synonymous 5/13 - 1
1-26135244-C-CA c.713dup p.N238Kfs*? Frameshift 5/13 - 8
1-26135249-G-A c.716G>A p.R239H Missense 5/13 - 2
1-26135249-GC-AA c.716_717delinsAA p.R239Q Missense 5/13 - 1
1-26135257-C-G c.724C>G p.P242A Missense 5/13 - 1
1-26135257-C-T c.724C>T p.P242S Missense 5/13 - 1
1-26135261-C-T c.728C>T p.P243L Missense 5/13 - 1
1-26135262-G-A c.729G>A p.P243= Synonymous 5/13 - 2
1-26135263-C-T c.730C>T p.P244S Missense 5/13 - 2
1-26135272-GGC-TGG c.739_741delinsTGG p.G247W Missense 5/13 - 1
1-26135319-C-T c.747+39C>T - IntronicSNV - 5/12 1
1-26135528-C-T c.759C>T p.H253= Synonymous 6/13 - 1
1-26135529-CG-TA c.760_761delinsTA p.R254* Nonsense 6/13 - 1
1-26135530-G-A c.761G>A p.R254Q Missense 6/13 - 3
1-26135539-G-A c.770G>A p.S257N Missense 6/13 - 4
1-26135542-T-C c.773T>C p.M258T Missense 6/13 - 1
1-26135548-A-T c.779A>T p.H260L Missense 6/13 - 1
1-26135549-C-A c.780C>A p.H260Q Missense 6/13 - 1
1-26135549-C-G c.780C>G p.H260Q Missense 6/13 - 1
1-26135550-C-T c.781C>T p.P261S Missense 6/13 - 1
1-26135553-C-T c.784C>T p.R262W Missense 6/13 - 1
1-26135554-G-C c.785G>C p.R262P Missense 6/13 - 1
1-26135562-G-C c.793G>C p.V265L Missense 6/13 - 1
1-26135562-G-T c.793G>T p.V265L Missense 6/13 - 1
1-26135566-A-G c.797A>G p.K266R Missense 6/13 - 1
1-26135569-C-T c.800C>T p.T267I Missense 6/13 - 2
1-26135570-C-G c.801C>G p.T267= Synonymous 6/13 - 2
1-26135571-C-T c.802C>T p.R268C Missense 6/13 - 6
1-26135579-C-T c.810C>T p.A270= Synonymous 6/13 - 1
1-26135580-C-T c.811C>T p.P271S Missense 6/13 - 2
1-26135581-C-T c.812C>T p.P271L Missense 6/13 - 1
1-26135583-C-T c.814C>T p.Q272* Nonsense 6/13 - 1
1-26135586-G-A c.817G>A p.G273R Missense 6/13 - 2
1-26135586-G-C c.817G>C p.G273R Missense 6/13 - 1
1-26135587-G-A c.818G>A p.G273E Missense 6/13 - 3
1-26135589-G-A c.820G>A p.A274T Missense 6/13 - 1
1-26135592-G-A c.823G>A p.V275M Missense 6/13 - 1
1-26135600-C-T c.831C>T p.C277= Synonymous 6/13 - 1
1-26135601-C-T c.832C>T p.L278= Synonymous 6/13 - 1
1-26135603-G-A c.834G>A p.L278= Synonymous 6/13 - 1
1-26135603-G-C c.834G>C p.L278= Synonymous 6/13 - 1
1-26135603-G-T c.834G>T p.L278= Synonymous 6/13 - 1
1-26135607-G-A c.838G>A p.A280T Missense 6/13 - 1
1-26135609-C-T c.840C>T p.A280= Synonymous 6/13 - 1
1-26135621-C-T c.852C>T p.F284= Synonymous 6/13 - 1
1-26135627-C-G c.858C>G p.Y286* Nonsense 6/13 - 1
1-26135639-C-T c.870C>T p.F290= Synonymous 6/13 - 2
1-26135641-G-A c.872G>A p.R291Q Missense 6/13 - 1
1-26135642-G-A c.872+1G>A - IntronicSNV - 6/12 1
1-26135643-T-C c.872+2T>C - IntronicSNV - 6/12 1
1-26135741-C-G c.872+100C>G - IntronicSNV - 6/12 1
1-26135913-T-A c.873-261T>A - IntronicSNV - 6/12 4
1-26135913-T-C c.873-261T>C - IntronicSNV - 6/12 4
1-26136179-A-G c.878A>G p.H293R Missense 7/13 - 1
1-26136181-G-A c.880G>A p.A294T Missense 7/13 - 1
1-26136181-G-C c.880G>C p.A294P Missense 7/13 - 1
1-26136184-G-A c.883G>A p.E295K Missense 7/13 - 7
1-26136187-T-C c.886T>C p.F296L Missense 7/13 - 4
1-26136189-C-A c.888C>A p.F296L Missense 7/13 - 2
1-26136189-C-G c.888C>G p.F296L Missense 7/13 - 2
1-26136191-A-G c.890A>G p.Q297R Missense 7/13 - 1
1-26136194-T-C c.893T>C p.L298P Missense 7/13 - 1
1-26136199-G-T c.898G>T p.E300* Nonsense 7/13 - 1
1-26136203-C-T c.902C>T p.P301L Missense 7/13 - 1
1-26136204-G-A c.903G>A p.P301= Synonymous 7/13 - 1
1-26136204-G-C c.903G>C p.P301= Synonymous 7/13 - 1
1-26136204-G-T c.903G>T p.P301= Synonymous 7/13 - 1
1-26136205-C-T c.904C>T p.P302S Missense 7/13 - 1
1-26136208-G-A c.907G>A p.D303N Missense 7/13 - 1
1-26136217-T-C c.916T>C p.F306L Missense 7/13 - 1
1-26136219-T-A c.918T>A p.F306L Missense 7/13 - 1
1-26136218-T-C c.917T>C p.F306S Missense 7/13 - 1
1-26136219-T-G c.918T>G p.F306L Missense 7/13 - 2
1-26136235-C-G c.934C>G p.Q312E Missense 7/13 - 1
1-26136236-A-G c.935A>G p.Q312R Missense 7/13 - 4
1-26136241-A-G c.940A>G p.T314A Missense 7/13 - 1
1-26136243-C-A c.942C>A p.T314= Synonymous 7/13 - 1
1-26136243-C-G c.942C>G p.T314= Synonymous 7/13 - 1
1-26136243-C-T c.942C>T p.T314= Synonymous 7/13 - 1
1-26136244-G-A c.943G>A p.G315S Missense 7/13 - 20
1-26136244-G-C c.943G>C p.G315R Missense 7/13 - 3
1-26136247-C-T c.946C>T p.H316Y Missense 7/13 - 1
1-26136263-AAG-A c.964_965del p.D322Rfs*? Frameshift 7/13 - 1
1-26136267-C-T c.966C>T p.D322= Synonymous 7/13 - 2
1-26136276-C-T c.975C>T p.H325= Synonymous 7/13 - 2
1-26136280-C-T c.979C>T p.R327C Missense 7/13 - 1
1-26136281-G-A c.980G>A p.R327H Missense 7/13 - 3
1-26136282-C-T c.981C>T p.R327= Synonymous 7/13 - 4
1-26136285-C-T c.984C>T p.D328= Synonymous 7/13 - 1
1-26136290-G-A c.989G>A p.R330Q Missense 7/13 - 1
1-26136291-GCT-G c.993_994del p.F332Rfs*? Frameshift 7/13 - 1
1-26136297-C-T c.996C>T p.F332= Synonymous 7/13 - 1
1-26136296-TCGTG-T c.997_1000del p.V333Pfs*? Frameshift 7/13 - 3
1-26136452-A-C c.1010+141A>C - IntronicSNV - 7/12 4
1-26136452-A-G c.1010+141A>G - IntronicSNV - 7/12 2
1-26137817-G-A c.1011-128G>A - IntronicSNV - 7/12 2
1-26137817-G-T c.1011-128G>T - IntronicSNV - 7/12 2
1-26137842-T-A c.1011-103T>A - IntronicSNV - 7/12 1
1-26137953-A-G c.1019A>G p.N340S Missense 8/13 - 1
1-26137953-A-T c.1019A>T p.N340I Missense 8/13 - 2
1-26137960-C-A c.1026C>A p.D342E Missense 8/13 - 1
1-26137960-C-G c.1026C>G p.D342E Missense 8/13 - 1
1-26137964-G-A c.1030G>A p.E344K Missense 8/13 - 2
1-26137975-C-T c.1041C>T p.Y347= Synonymous 8/13 - 1
1-26137979-G-T c.1045G>T p.A349S Missense 8/13 - 2
1-26137983-G-A c.1049G>A p.S350N Missense 8/13 - 1
1-26137985-G-C c.1051G>C p.E351Q Missense 8/13 - 1
1-26137991-A-C c.1057A>C p.S353R Missense 8/13 - 1
1-26137993-C-A c.1059C>A p.S353R Missense 8/13 - 1
1-26137993-C-G c.1059C>G p.S353R Missense 8/13 - 1
1-26138002-G-C c.1068G>C p.E356D Missense 8/13 - 1
1-26138002-G-T c.1068G>T p.E356D Missense 8/13 - 1
1-26138003-GTG-ATC c.1069_1071delinsATC p.V357I Missense 8/13 - 1
1-26138011-C-T c.1077C>T p.I359= Synonymous 8/13 - 3
1-26138012-G-A c.1078G>A p.G360S Missense 8/13 - 1
1-26138017-C-T c.1083C>T p.Y361= Synonymous 8/13 - 2
1-26138019-T-C c.1085T>C p.I362T Missense 8/13 - 1
1-26138020-A-AGGTTATATC c.1086_1087insGGTTATATC p.G360_I362dup InFrameInsertion 8/13 - 1
1-26138023-C-G c.1089C>G p.P363= Synonymous 8/13 - 1
1-26138024-C-T c.1090C>T p.Q364* Nonsense 8/13 - 1
1-26138027-G-A c.1092+1G>A - IntronicSNV - 8/12 1
1-26138027-G-T c.1092+1G>T - IntronicSNV - 8/12 1
1-26138032-C-G c.1092+6C>G - IntronicSNV - 8/12 2
1-26138042-G-C c.1092+16G>C - IntronicSNV - 8/12 1
1-26138136-C-A c.1093-46C>A - IntronicSNV - 8/12 11
1-26138185-G-T c.1096G>T p.E366* Nonsense 9/13 - 1
1-26138196-C-T c.1107C>T p.A369= Synonymous 9/13 - 1
1-26138201-G-A c.1112G>A p.G371D Missense 9/13 - 1
1-26138203-C-A c.1114C>A p.P372T Missense 9/13 - 1
1-26138213-C-T c.1124C>T p.P375L Missense 9/13 - 1
1-26138237-G-A c.1148G>A p.G383D Missense 9/13 - 1
1-26138239-A-G c.1150A>G p.S384G Missense 9/13 - 1
1-26138240-G-A c.1151G>A p.S384N Missense 9/13 - 1
1-26138247-C-T c.1158C>T p.I386= Synonymous 9/13 - 1
1-26138248-G-A c.1159G>A p.D387N Missense 9/13 - 3
1-26138251-A-G c.1162A>G p.S388G Missense 9/13 - 3
1-26138252-G-A c.1163G>A p.S388N Missense 9/13 - 1
1-26138253-C-T c.1164C>T p.S388= Synonymous 9/13 - 1
1-26138254-C-T c.1165C>T p.H389Y Missense 9/13 - 1
1-26138256-C-T c.1167C>T p.H389= Synonymous 9/13 - 2
1-26138257-CTG-ATC c.1168_1170delinsATC p.L390I Missense 9/13 - 3
1-26138261-C-T c.1172C>T p.P391L Missense 9/13 - 1
1-26138262-T-A c.1173T>A p.P391= Synonymous 9/13 - 27
1-26138262-T-C c.1173T>C p.P391= Synonymous 9/13 - 29
1-26138262-T-G c.1173T>G p.P391= Synonymous 9/13 - 27
1-26138265-CA-C c.1176del p.E394Sfs*? Frameshift 9/13 - 1
1-26138268-G-C c.1179G>C p.G393= Synonymous 9/13 - 1
1-26138272-C-A c.1183C>A p.P395T Missense 9/13 - 1
1-26138273-C-T c.1184C>T p.P395L Missense 9/13 - 1
1-26138278-C-T c.1189C>T p.Q397* Nonsense 9/13 - 1
1-26138279-A-G c.1190A>G p.Q397R Missense 9/13 - 1
1-26138289-T-A c.1200T>A p.F400L Missense 9/13 - 1
1-26138295-G-GCCCCACAGCAGGA c.1206_1207insCCCCACAGCAGGA p.I403Pfs*? Frameshift 9/13 - 1
1-26138296-A-ATGAGTGCACCAGCTTGTTCTCAGCCTTGGC c.1208_1209insGAGTGCACCAGCTTGTTCTCAGCCTTGGCT p.I403delinsMSAPACSQPWL MultiAAMissense 9/13 - 1
1-26138297-T-TC c.1209dup p.K404Qfs*? Frameshift 9/13 - 1
1-26138300-AG-TC c.1211_1212delinsTC p.K404I Missense 9/13 - 1
1-26138304-G-A c.1215G>A p.W405* Nonsense 9/13 - 1
1-26138305-C-A c.1216C>A p.Q406K Missense 9/13 - 1
1-26138312-A-T c.1223A>T p.E408V Missense 9/13 - 1
1-26138320-T-C c.1231T>C p.W411R Missense 9/13 - 1
1-26138325-G-A c.1236G>A p.E412= Synonymous 9/13 - 1
1-26138326-G-A c.1237G>A p.E413K Missense 9/13 - 1
1-26138332-G-T c.1243G>T p.A415S Missense 9/13 - 1
1-26138345-A-G c.1256A>G p.E419G Missense 9/13 - 2
1-26138352-C-T c.1263C>T p.A421= Synonymous 9/13 - 1
1-26138357-A-G c.1268A>G p.Y423C Missense 9/13 - 1
1-26138361-C-A c.1272C>A p.P424= Synonymous 9/13 - 1
1-26138451-A-G c.1281+81A>G - IntronicSNV - 9/12 5
1-26138451-A-T c.1281+81A>T - IntronicSNV - 9/12 3
1-26139063-C-A c.1282-115C>A - IntronicSNV - 9/12 1
1-26139063-C-T c.1282-115C>T - IntronicSNV - 9/12 1
1-26139137-C-T c.1282-41C>T - IntronicSNV - 9/12 10
1-26139165-G-A c.1282-13G>A - IntronicSNV - 9/12 1
1-26139165-G-C c.1282-13G>C - IntronicSNV - 9/12 1
1-26139179-TCTC-T c.1286_1288del p.S429del InFrameDeletion 10/13 - 1
1-26139189-TG-T c.1293del p.L431Ffs*? Frameshift 10/13 - 1
1-26139191-C-T c.1295C>T p.P432L Missense 10/13 - 1
1-26139198-T-A c.1302T>A p.T434= Synonymous 10/13 - 3
1-26139198-T-C c.1302T>C p.T434= Synonymous 10/13 - 1
1-26139198-T-G c.1302T>G p.T434= Synonymous 10/13 - 1
1-26139199-G-A c.1303G>A p.E435K Missense 10/13 - 1
1-26139202-G-A c.1306G>A p.A436T Missense 10/13 - 1
1-26139204-C-CCCCCACAGCAGGA c.1308_1309insCCCCACAGCAGGA p.F437Pfs*? Frameshift 10/13 - 1
1-26139205-T-TTGAGTGCACCAGCTTGTTCTCAGCCTTGGC c.1310_1311insGAGTGCACCAGCTTGTTCTCAGCCTTGGCT p.F437delinsLSAPACSQPWL MultiAAMissense 10/13 - 1
1-26139207-C-T c.1311C>T p.F437= Synonymous 10/13 - 2
1-26139211-C-T c.1315C>T p.R439* Nonsense 10/13 - 4
1-26139212-G-A c.1316G>A p.R439Q Missense 10/13 - 3
1-26139212-G-T c.1316G>T p.R439L Missense 10/13 - 1
1-26139216-C-T c.1320C>T p.A440= Synonymous 10/13 - 1
1-26139220-G-A c.1324G>A p.A442T Missense 10/13 - 1
1-26139223-G-T c.1327G>T p.E443* Nonsense 10/13 - 1
1-26139225-GAAC-G c.1332_1334del p.N444del InFrameDeletion 10/13 - 2
1-26139233-T-C c.1337T>C p.L446P Missense 10/13 - 1
1-26139235-G-A c.1339G>A p.V447M Missense 10/13 - 2
1-26139240-C-T c.1344C>T p.H448= Synonymous 10/13 - 1
1-26139254-G-C c.1358G>C p.W453S Missense 10/13 - 6
1-26139255-G-C c.1359G>C p.W453C Missense 10/13 - 1
1-26139257-G-A c.1361G>A p.G454E Missense 10/13 - 1
1-26139253-T-TG c.1363dup p.A455Gfs*? Frameshift 10/13 - 2
1-26139265-G-A c.1369G>A p.D457N Missense 10/13 - 1
1-26139270-C-G c.1374C>G p.D458E Missense 10/13 - 1
1-26139275-C-T c.1379C>T p.S460F Missense 10/13 - 5
1-26139280-T-A c.1384T>A p.Sec462R Missense 10/13 - 1
1-26139280-T-C c.1384T>C p.Sec462R Missense 10/13 - 3
1-26139282-A-G c.1386A>G p.Sec462W Missense 10/13 - 1
1-26139283-G-T c.1387G>T p.G463C Missense 10/13 - 1
1-26139392-A-G c.1387+109A>G - IntronicSNV - 10/12 6
1-26139444-G-A c.1387+161G>A - IntronicSNV - 10/12 6
1-26139879-C-G c.1388-493C>G - IntronicSNV - 10/12 6
1-26139919-C-T c.1388-453C>T - IntronicSNV - 10/12 5
1-26140372-G-T c.1388G>T p.G463V Missense 11/13 - 4
1-26140380-C-T c.1396C>T p.R466W Missense 11/13 - 3
1-26140381-G-A c.1397G>A p.R466Q Missense 11/13 - 17
1-26140385-T-A c.1401T>A p.T467= Synonymous 11/13 - 1
1-26140385-T-C c.1401T>C p.T467= Synonymous 11/13 - 1
1-26140385-T-G c.1401T>G p.T467= Synonymous 11/13 - 1
1-26140386-C-G c.1402C>G p.L468V Missense 11/13 - 1
1-26140386-C-T c.1402C>T p.L468F Missense 11/13 - 1
1-26140388-C-A c.1404C>A p.L468= Synonymous 11/13 - 1
1-26140389-CGG-TGT c.1405_1407delinsTGT p.R469C Missense 11/13 - 1
1-26140389-C-T c.1405C>T p.R469W Missense 11/13 - 5
1-26140390-G-A c.1406G>A p.R469Q Missense 11/13 - 6
1-26140390-G-T c.1406G>T p.R469L Missense 11/13 - 1
1-26140406-A-G c.1422A>G p.E474= Synonymous 11/13 - 1
1-26140408-G-A c.1424G>A p.S475N Missense 11/13 - 1
1-26140411-C-T c.1427C>T p.S476L Missense 11/13 - 2
1-26140414-C-A c.1430C>A p.P477H Missense 11/13 - 2
1-26140424-C-A c.1440C>A p.T480= Synonymous 11/13 - 1
1-26140424-C-G c.1440C>G p.T480= Synonymous 11/13 - 1
1-26140424-C-T c.1440C>T p.T480= Synonymous 11/13 - 1
1-26140430-TC-T c.1446del p.N483Tfs*? Frameshift 11/13 - 3
1-26140435-A-C c.1451A>C p.E484A Missense 11/13 - 1
1-26140436-G-A c.1452G>A p.E484= Synonymous 11/13 - 1
1-26140437-A-G c.1453A>G p.S485G Missense 11/13 - 1
1-26140439-C-T c.1455C>T p.S485= Synonymous 11/13 - 1
1-26140443-A-G c.1459A>G p.I487V Missense 11/13 - 2
1-26140445-C-T c.1461C>T p.I487= Synonymous 11/13 - 1
1-26140456-C-G c.1472C>G p.S491C Missense 11/13 - 1
1-26140457-C-T c.1473C>T p.S491= Synonymous 11/13 - 2
1-26140467-G-C c.1483G>C p.E495Q Missense 11/13 - 1
1-26140468-A-C c.1484A>C p.E495A Missense 11/13 - 1
1-26140573-C-A c.1506C>A p.N502K Missense 12/13 - 49
1-26140573-C-G c.1506C>G p.N502K Missense 12/13 - 10
1-26140573-C-T c.1506C>T p.N502= Synonymous 12/13 - 2
1-26140592-C-T c.1525C>T p.Q509* Nonsense 12/13 - 2
1-26140619-A-T c.1552A>T p.K518* Nonsense 12/13 - 1
1-26140628-T-C c.1561T>C p.F521L Missense 12/13 - 1
1-26140631-C-T c.1564C>T p.P522S Missense 12/13 - 1
1-26140633-C-T c.1566C>T p.P522= Synonymous 12/13 - 1
1-26140634-G-A c.1567G>A p.V523M Missense 12/13 - 1
1-26140641-T-C c.1574T>C p.M525T Missense 12/13 - 1
1-26140641-T-G c.1574T>G p.M525R Missense 12/13 - 4
1-26140648-C-A c.1581C>A p.I527= Synonymous 12/13 - 1
1-26140648-C-T c.1581C>T p.I527= Synonymous 12/13 - 1
1-26140659-A-G c.1592A>G p.N531S Missense 12/13 - 1
1-26140660-ATGG-A c.1593_1595del p.G532del InFrameDeletion 12/13 - 1
1-26140662-G-A c.1595G>A p.G532D Missense 12/13 - 1
1-26140663-C-T c.1596C>T p.G532= Synonymous 12/13 - 1
1-26140664-A-T c.1597A>T p.T533S Missense 12/13 - 1
1-26140665-CC-TG c.1598_1599delinsTG p.T533M Missense 12/13 - 1
1-26140665-C-G c.1598C>G p.T533S Missense 12/13 - 1
1-26140667-G-A c.1600G>A p.V534M Missense 12/13 - 1
1-26140701-C-A c.1602+32C>A - IntronicSNV - 12/12 1
1-26141617-A-G c.1603-422A>G - IntronicSNV - 12/12 1
1-26141617-A-T c.1603-422A>T - IntronicSNV - 12/12 1
1-26141803-G-A c.1603-236G>A - IntronicSNV - 12/12 1
1-26141803-G-T c.1603-236G>T - IntronicSNV - 12/12 1
1-26141974-G-C c.1603-65G>C - IntronicSNV - 12/12 1
1-26142048-A-G c.1612A>G p.I538V Missense 13/13 - 1
1-26142052-A-G c.1616A>G p.N539S Missense 13/13 - 1
1-26142057-A-G c.1621A>G p.N541D Missense 13/13 - 1
1-26142063-T-C c.1627T>C p.F543L Missense 13/13 - 1
1-26142065-C-A c.1629C>A p.F543L Missense 13/13 - 1
1-26142065-C-G c.1629C>G p.F543L Missense 13/13 - 2
1-26142068-G-C c.1632G>C p.L544F Missense 13/13 - 1
1-26142068-G-T c.1632G>T p.L544F Missense 13/13 - 1
1-26142074-C-T c.1638C>T p.I546= Synonymous 13/13 - 1
1-26142074-C-CA c.1639dup p.T547Nfs*? Frameshift 13/13 - 1
1-26142079-C-T c.1643C>T p.S548F Missense 13/13 - 1
1-26142081-G-A c.1645G>A p.V549M Missense 13/13 - 8
1-26142089-C-A c.1653C>A p.P551= Synonymous 13/13 - 1
1-26142089-C-G c.1653C>G p.P551= Synonymous 13/13 - 1
1-26142089-C-T c.1653C>T p.P551= Synonymous 13/13 - 1
1-26142090-G-A c.1654G>A p.E552K Missense 13/13 - 1
1-26142090-G-T c.1654G>T p.E552* Nonsense 13/13 - 1
1-26142098-C-T c.1662C>T p.I554= Synonymous 13/13 - 1
1-26142099-G-A c.1663G>A p.E555K Missense 13/13 - 1
1-26142102-A-G c.1666A>G p.S556G Missense 13/13 - 1
1-26142108-C-T c.1672C>T p.L558F Missense 13/13 - 1
1-26142114-AG-CC c.1678_1679delinsCC p.S560P Missense 13/13 - 1
1-26142124-C-T c.1688C>T p.S563F Missense 13/13 - 1
1-26142135-G-T c.1699G>T p.D567Y Missense 13/13 - 1
1-26142141-GTC-G c.1705_1706del p.S569Hfs*? Frameshift 13/13 - 1
1-26142145-C-T c.1709C>T p.T570M Missense 13/13 - 2
1-26142147-G-A c.1711G>A p.A571T Missense 13/13 - 3
1-26142156-A-C c.1720A>C p.M574L Missense 13/13 - 2
1-26142156-A-T c.1720A>T p.M574L Missense 13/13 - 2
1-26142159-C-T c.1723C>T p.Q575* Nonsense 13/13 - 1
1-26142165-C-T c.1729C>T p.L577= Synonymous 13/13 - 1
1-26142167-G-A c.1731G>A p.L577= Synonymous 13/13 - 1
1-26142167-G-C c.1731G>C p.L577= Synonymous 13/13 - 1
1-26142167-G-T c.1731G>T p.L577= Synonymous 13/13 - 1
1-26142171-G-A c.1735G>A p.E579K Missense 13/13 - 1
1-26142171-G-C c.1735G>C p.E579Q Missense 13/13 - 1
1-26142173-G-A c.1737G>A p.E579= Synonymous 13/13 - 1
1-26142181-G-A c.1745G>A p.R582Q Missense 13/13 - 1
1-26142184-G-A c.1748G>A p.R583H Missense 13/13 - 1
1-26142194-C-T c.1758C>T p.P586= Synonymous 13/13 - 1
1-26142205-C-T c.1769C>T p.P590L Missense 13/13 - 1
1-26142208-A-G c.1772A>G p.*591Wext*? Missense 13/13 - 1
1-26142253-G-T c.*44G>T - 3-UTRSNV 13/13 - 1
1-26142888-C-T c.*679C>T - 3-UTRSNV 13/13 - 1
1-26143705-T-TTTTTG c.*1499_*1500insTGTTT - 3-UTRInsertion 13/13 - 1
1-26143821-T-C c.*1612T>C - 3-UTRSNV 13/13 - 5
1-26143931-T-C c.*1722T>C - 3-UTRSNV 13/13 - 5
1-26144521-T-A c.*2312T>A - 3-UTRSNV 13/13 - 1
1-26144521-T-C c.*2312T>C - 3-UTRSNV 13/13 - 1
1-26144545-A-T c.*2336A>T - 3-UTRSNV 13/13 - 2
1-26144674-G-A c.*2465G>A - 3-UTRSNV 13/13 - 6