TNFRSF11A

TNFRSF11A TNF receptor superfamily member 11a

Annotation transcript: NM_003839.4

860 unique variant annotations were identified in 754 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
18-59992547-G-A c.-39G>A - 5-UTRSNV 1/10 - 4
18-59992577-T-C c.-9T>C - 5-UTRSNV 1/10 - 6
18-59992587-T-A c.2T>A p.M1? Missense 1/10 - 1
18-59992589-G-A c.4G>A p.A2T Missense 1/10 - 1
18-59992590-C-T c.5C>T p.A2V Missense 1/10 - 1
18-59992591-C-G c.6C>G p.A2= Synonymous 1/10 - 3
18-59992601-C-T c.16C>T p.R6W Missense 1/10 - 1
18-59992604-C-G c.19C>G p.R7G Missense 1/10 - 1
18-59992604-GCGGCGCCGCCCGC-G c.19_31del p.R7Cfs*172 Frameshift 1/10 - 1
18-59992605-GG-AT c.20_21delinsAT p.R7H Missense 1/10 - 1
18-59992609-C-A c.24C>A p.R8= Synonymous 1/10 - 1
18-59992609-C-G c.24C>G p.R8= Synonymous 1/10 - 1
18-59992609-C-T c.24C>T p.R8= Synonymous 1/10 - 1
18-59992613-C-T c.28C>T p.P10S Missense 1/10 - 1
18-59992614-C-T c.29C>T p.P10L Missense 1/10 - 3
18-59992617-T-A c.32T>A p.L11Q Missense 1/10 - 1
18-59992619-TTC-AAG c.34_36delinsAAG p.F12K Missense 1/10 - 7
18-59992619-TTC-GAG c.34_36delinsGAG p.F12E Missense 1/10 - 1
18-59992621-C-T c.36C>T p.F12= Synonymous 1/10 - 1
18-59992622-GC-CT c.37_38delinsCT p.A13L Missense 1/10 - 1
18-59992623-CG-AC c.38_39delinsAC p.A13D Missense 1/10 - 1
18-59992624-G-A c.39G>A p.A13= Synonymous 1/10 - 1
18-59992624-G-C c.39G>C p.A13= Synonymous 1/10 - 1
18-59992624-G-T c.39G>T p.A13= Synonymous 1/10 - 1
18-59992637-TG-CA c.52_53inv p.C18H Missense 1/10 - 1
18-59992640-G-C c.55G>C p.A19P Missense 1/10 - 1
18-59992640-GCG-TTT c.55_57delinsTTT p.A19F Missense 1/10 - 3
18-59992641-C-G c.56C>G p.A19G Missense 1/10 - 1
18-59992642-G-A c.57G>A p.A19= Synonymous 1/10 - 2
18-59992642-G-C c.57G>C p.A19= Synonymous 1/10 - 2
18-59992642-G-T c.57G>T p.A19= Synonymous 1/10 - 2
18-59992650-C-T c.65C>T p.A22V Missense 1/10 - 1
18-59992658-CA-GC c.73_74delinsGC p.Q25A Missense 1/10 - 1
18-59992665-G-A c.75+5G>A - IntronicSNV - 1/9 1
18-59992737-G-A c.75+77G>A - IntronicSNV - 1/9 1
18-59992737-G-C c.75+77G>C - IntronicSNV - 1/9 1
18-59993453-T-A c.75+793T>A - IntronicSNV - 1/9 1
18-59997434-T-C c.75+4774T>C - IntronicSNV - 1/9 1
18-59997639-G-A c.75+4979G>A - IntronicSNV - 1/9 2
18-59997684-A-G c.75+5024A>G - IntronicSNV - 1/9 5
18-59998026-GA-G c.75+5375del - IntronicDeletion - 1/9 1
18-59999573-G-A c.75+6913G>A - IntronicSNV - 1/9 3
18-59999957-CT-C c.75+7307del - IntronicDeletion - 1/9 1
18-60000379-A-G c.75+7719A>G - IntronicSNV - 1/9 4
18-60000477-T-C c.75+7817T>C - IntronicSNV - 1/9 3
18-60000757-A-G c.75+8097A>G - IntronicSNV - 1/9 2
18-60001153-G-A c.75+8493G>A - IntronicSNV - 1/9 1
18-60001692-G-A c.75+9032G>A - IntronicSNV - 1/9 1
18-60002874-C-G c.75+10214C>G - IntronicSNV - 1/9 1
18-60002874-C-T c.75+10214C>T - IntronicSNV - 1/9 1
18-60003297-C-T c.75+10637C>T - IntronicSNV - 1/9 1
18-60003644-C-A c.75+10984C>A - IntronicSNV - 1/9 3
18-60003644-C-T c.75+10984C>T - IntronicSNV - 1/9 3
18-60004253-A-C c.76-11148A>C - IntronicSNV - 1/9 2
18-60004253-A-G c.76-11148A>G - IntronicSNV - 1/9 2
18-60004253-A-T c.76-11148A>T - IntronicSNV - 1/9 2
18-60005046-A-C c.76-10355A>C - IntronicSNV - 1/9 3
18-60005046-A-T c.76-10355A>T - IntronicSNV - 1/9 3
18-60006143-G-A c.76-9258G>A - IntronicSNV - 1/9 1
18-60006978-C-G c.76-8423C>G - IntronicSNV - 1/9 15
18-60008436-C-A c.76-6965C>A - IntronicSNV - 1/9 1
18-60009634-C-A c.76-5767C>A - IntronicSNV - 1/9 1
18-60009814-C-T c.76-5587C>T - IntronicSNV - 1/9 9
18-60010448-A-C c.76-4953A>C - IntronicSNV - 1/9 2
18-60010448-A-T c.76-4953A>T - IntronicSNV - 1/9 2
18-60011615-T-C c.76-3786T>C - IntronicSNV - 1/9 2
18-60013640-G-A c.76-1761G>A - IntronicSNV - 1/9 5
18-60014463-T-A c.76-938T>A - IntronicSNV - 1/9 1
18-60014463-T-C c.76-938T>C - IntronicSNV - 1/9 1
18-60015207-G-A c.76-194G>A - IntronicSNV - 1/9 1
18-60015207-G-C c.76-194G>C - IntronicSNV - 1/9 1
18-60015402-TG-AC c.77_78delinsAC p.V26D Missense 2/10 - 1
18-60015404-GCT-AAG c.79_81delinsAAG p.A27K Missense 2/10 - 1
18-60015404-G-T c.79G>T p.A27S Missense 2/10 - 1
18-60015405-C-G c.80C>G p.A27G Missense 2/10 - 1
18-60015406-T-A c.81T>A p.A27= Synonymous 2/10 - 1
18-60015406-T-C c.81T>C p.A27= Synonymous 2/10 - 1
18-60015406-T-G c.81T>G p.A27= Synonymous 2/10 - 1
18-60015409-G-A c.84G>A p.L28= Synonymous 2/10 - 3
18-60015411-A-C c.86A>C p.Q29P Missense 2/10 - 1
18-60015412-G-A c.87G>A p.Q29= Synonymous 2/10 - 1
18-60015412-G-C c.87G>C p.Q29H Missense 2/10 - 1
18-60015412-G-T c.87G>T p.Q29H Missense 2/10 - 1
18-60015413-A-C c.88A>C p.I30L Missense 2/10 - 4
18-60015414-T-C c.89T>C p.I30T Missense 2/10 - 1
18-60015416-G-A c.91G>A p.A31T Missense 2/10 - 1
18-60015416-G-T c.91G>T p.A31S Missense 2/10 - 1
18-60015419-C-T c.94C>T p.P32S Missense 2/10 - 1
18-60015422-C-T c.97C>T p.P33S Missense 2/10 - 2
18-60015423-C-G c.98C>G p.P33R Missense 2/10 - 1
18-60015425-TG-AC c.100_101delinsAC p.C34T Missense 2/10 - 1
18-60015426-G-A c.101G>A p.C34Y Missense 2/10 - 3
18-60015429-C-G c.104C>G p.T35S Missense 2/10 - 1
18-60015431-AG-GC c.106_107delinsGC p.S36A Missense 2/10 - 1
18-60015432-G-A c.107G>A p.S36N Missense 2/10 - 1
18-60015434-G-A c.109G>A p.E37K Missense 2/10 - 1
18-60015436-G-C c.111G>C p.E37D Missense 2/10 - 1
18-60015436-G-T c.111G>T p.E37D Missense 2/10 - 2
18-60015449-CA-AG c.124_125delinsAG p.H42S Missense 2/10 - 1
18-60015456-GA-AC c.131_132delinsAC p.G44D Missense 2/10 - 1
18-60015457-A-G c.132A>G p.G44= Synonymous 2/10 - 1
18-60015459-G-A c.134G>A p.R45Q Missense 2/10 - 1
18-60015459-G-T c.134G>T p.R45L Missense 2/10 - 1
18-60015461-T-A c.136T>A p.C46S Missense 2/10 - 1
18-60015461-TG-GC c.136_137delinsGC p.C46A Missense 2/10 - 1
18-60015462-G-C c.137G>C p.C46S Missense 2/10 - 1
18-60015464-TG-CC c.139_140delinsCC p.C47P Missense 2/10 - 1
18-60015473-TG-CC c.148_149delinsCC p.C50P Missense 2/10 - 1
18-60015474-G-A c.149G>A p.C50Y Missense 2/10 - 5
18-60015475-T-C c.150T>C p.C50= Synonymous 2/10 - 7
18-60015476-G-A c.151G>A p.E51K Missense 2/10 - 1
18-60015478-A-T c.153A>T p.E51D Missense 2/10 - 2
18-60015480-C-T c.155C>T p.P52L Missense 2/10 - 1
18-60015482-G-A c.157G>A p.G53R Missense 2/10 - 3
18-60015482-G-C c.157G>C p.G53R Missense 2/10 - 7
18-60015542-T-C c.157+60T>C - IntronicSNV - 2/9 2
18-60015750-G-A c.157+268G>A - IntronicSNV - 2/9 4
18-60015750-G-T c.157+268G>T - IntronicSNV - 2/9 3
18-60015935-G-A c.157+453G>A - IntronicSNV - 2/9 1
18-60016233-G-A c.157+751G>A - IntronicSNV - 2/9 5
18-60016875-T-C c.158-170T>C - IntronicSNV - 2/9 2
18-60017049-G-C c.162G>C p.K54N Missense 3/10 - 1
18-60017049-G-T c.162G>T p.K54N Missense 3/10 - 1
18-60017051-A-G c.164A>G p.Y55C Missense 3/10 - 2
18-60017055-G-A c.168G>A p.M56I Missense 3/10 - 2
18-60017055-G-C c.168G>C p.M56I Missense 3/10 - 1
18-60017055-G-T c.168G>T p.M56I Missense 3/10 - 1
18-60017057-C-T c.170C>T p.S57F Missense 3/10 - 1
18-60017060-C-A c.173C>A p.S58Y Missense 3/10 - 2
18-60017063-A-G c.176A>G p.K59R Missense 3/10 - 1
18-60017069-C-T c.182C>T p.T61I Missense 3/10 - 1
18-60017069-CT-AG c.182_183inv p.T61K Missense 3/10 - 1
18-60017074-A-G c.187A>G p.T63A Missense 3/10 - 1
18-60017078-C-T c.191C>T p.S64F Missense 3/10 - 1
18-60017081-A-C c.194A>C p.D65A Missense 3/10 - 1
18-60017089-T-C c.202T>C p.C68R Missense 3/10 - 1
18-60017090-G-A c.203G>A p.C68Y Missense 3/10 - 1
18-60017093-T-C c.206T>C p.L69P Missense 3/10 - 1
18-60017098-T-G c.211T>G p.C71G Missense 3/10 - 1
18-60017100-T-A c.213T>A p.C71* Nonsense 3/10 - 1
18-60017101-G-A c.214G>A p.G72S Missense 3/10 - 8
18-60017101-G-T c.214G>T p.G72C Missense 3/10 - 1
18-60017106-G-A c.219G>A p.P73= Synonymous 3/10 - 5
18-60017106-G-C c.219G>C p.P73= Synonymous 3/10 - 4
18-60017106-G-T c.219G>T p.P73= Synonymous 3/10 - 4
18-60017107-G-A c.220G>A p.D74N Missense 3/10 - 5
18-60017110-G-A c.223G>A p.E75K Missense 3/10 - 6
18-60017110-G-C c.223G>C p.E75Q Missense 3/10 - 1
18-60017114-A-T c.227A>T p.Y76F Missense 3/10 - 1
18-60017119-G-C c.232G>C p.D78H Missense 3/10 - 1
18-60017120-A-T c.233A>T p.D78V Missense 3/10 - 1
18-60017128-AA-GC c.241_242delinsGC p.N81A Missense 3/10 - 1
18-60017128-A-C c.241A>C p.N81H Missense 3/10 - 1
18-60017131-G-A c.244G>A p.E82K Missense 3/10 - 1
18-60017134-G-T c.247G>T p.E83* Nonsense 3/10 - 2
18-60017136-A-C c.249A>C p.E83D Missense 3/10 - 1
18-60017137-G-A c.250G>A p.D84N Missense 3/10 - 1
18-60017141-A-G c.254A>G p.K85R Missense 3/10 - 1
18-60017144-G-A c.257G>A p.C86Y Missense 3/10 - 1
18-60017149-C-A c.262C>A p.L88M Missense 3/10 - 1
18-60017153-A-G c.266A>G p.H89R Missense 3/10 - 2
18-60017155-A-G c.268A>G p.K90E Missense 3/10 - 1
18-60017161-TG-GC c.274_275delinsGC p.C92A Missense 3/10 - 1
18-60017162-G-A c.275G>A p.C92Y Missense 3/10 - 2
18-60017164-G-C c.277G>C p.D93H Missense 3/10 - 1
18-60017165-A-C c.278A>C p.D93A Missense 3/10 - 1
18-60017167-A-G c.280A>G p.T94A Missense 3/10 - 2
18-60017340-A-G c.283+170A>G - IntronicSNV - 3/9 1
18-60017534-T-A c.283+364T>A - IntronicSNV - 3/9 1
18-60018206-A-T c.283+1036A>T - IntronicSNV - 3/9 7
18-60019291-A-G c.283+2121A>G - IntronicSNV - 3/9 1
18-60019850-T-G c.284-1774T>G - IntronicSNV - 3/9 2
18-60021504-T-A c.284-120T>A - IntronicSNV - 3/9 14
18-60021504-T-G c.284-120T>G - IntronicSNV - 3/9 14
18-60021619-C-A c.284-5C>A - IntronicSNV - 3/9 1
18-60021619-C-T c.284-5C>T - IntronicSNV - 3/9 1
18-60021628-G-A c.288G>A p.K96= Synonymous 4/10 - 2
18-60021629-GC-TT c.289_290delinsTT p.A97F Missense 4/10 - 1
18-60021630-C-T c.290C>T p.A97V Missense 4/10 - 1
18-60021638-G-T c.298G>T p.A100S Missense 4/10 - 5
18-60021641-G-A c.301G>A p.V101M Missense 4/10 - 3
18-60021649-C-T c.309C>T p.A103= Synonymous 4/10 - 1
18-60021651-G-A c.311G>A p.G104D Missense 4/10 - 1
18-60021660-C-T c.320C>T p.T107M Missense 4/10 - 2
18-60021665-C-A c.325C>A p.P109T Missense 4/10 - 1
18-60021665-C-T c.325C>T p.P109S Missense 4/10 - 2
18-60021667-C-A c.327C>A p.P109= Synonymous 4/10 - 1
18-60021667-C-G c.327C>G p.P109= Synonymous 4/10 - 2
18-60021667-C-T c.327C>T p.P109= Synonymous 4/10 - 3
18-60021662-A-AC c.328dup p.R110Pfs*52 Frameshift 4/10 - 3
18-60021668-C-T c.328C>T p.R110W Missense 4/10 - 1
18-60021669-G-A c.329G>A p.R110Q Missense 4/10 - 1
18-60021677-G-A c.337G>A p.A113T Missense 4/10 - 3
18-60021677-G-T c.337G>T p.A113S Missense 4/10 - 2
18-60021678-C-T c.338C>T p.A113V Missense 4/10 - 1
18-60021682-C-T c.342C>T p.C114= Synonymous 4/10 - 1
18-60021684-C-T c.344C>T p.T115M Missense 4/10 - 1
18-60021685-G-A c.345G>A p.T115= Synonymous 4/10 - 2
18-60021685-G-C c.345G>C p.T115= Synonymous 4/10 - 2
18-60021685-G-T c.345G>T p.T115= Synonymous 4/10 - 2
18-60021686-G-A c.346G>A p.A116T Missense 4/10 - 1
18-60021686-G-T c.346G>T p.A116S Missense 4/10 - 1
18-60021693-A-G c.353A>G p.Y118C Missense 4/10 - 1
18-60021695-C-T c.355C>T p.H119Y Missense 4/10 - 1
18-60021700-G-A c.360G>A p.W120* Nonsense 4/10 - 3
18-60021709-C-T c.369C>T p.D123= Synonymous 4/10 - 1
18-60021712-C-A c.372C>A p.C124* Nonsense 4/10 - 2
18-60021712-C-T c.372C>T p.C124= Synonymous 4/10 - 1
18-60021718-C-T c.378C>T p.C126= Synonymous 4/10 - 1
18-60021719-TG-GC c.379_380delinsGC p.C127A Missense 4/10 - 1
18-60021720-G-A c.380G>A p.C127Y Missense 4/10 - 1
18-60021720-G-T c.380G>T p.C127F Missense 4/10 - 1
18-60021722-CGC-TGA c.382_384delinsTGA p.R128* Nonsense 4/10 - 1
18-60021722-C-T c.382C>T p.R128C Missense 4/10 - 3
18-60021723-G-A c.383G>A p.R128H Missense 4/10 - 1
18-60021725-C-T c.385C>T p.R129C Missense 4/10 - 6
18-60021726-G-C c.386G>C p.R129P Missense 4/10 - 1
18-60021732-C-A c.392C>A p.T131N Missense 4/10 - 1
18-60021733-C-T c.393C>T p.T131= Synonymous 4/10 - 1
18-60021734-G-A c.394G>A p.E132K Missense 4/10 - 3
18-60021738-G-A c.398G>A p.C133Y Missense 4/10 - 1
18-60021739-C-T c.399C>T p.C133= Synonymous 4/10 - 1
18-60021740-G-A c.400G>A p.A134T Missense 4/10 - 1
18-60021741-C-T c.401C>T p.A134V Missense 4/10 - 1
18-60021744-C-T c.404C>T p.P135L Missense 4/10 - 1
18-60021745-G-A c.405G>A p.P135= Synonymous 4/10 - 2
18-60021749-CT-TC c.409_410delinsTC p.L137S Missense 4/10 - 1
18-60021749-C-T c.409C>T p.L137= Synonymous 4/10 - 1
18-60021751-G-A c.411G>A p.L137= Synonymous 4/10 - 1
18-60021751-G-C c.411G>C p.L137= Synonymous 4/10 - 1
18-60021751-G-T c.411G>T p.L137= Synonymous 4/10 - 1
18-60021752-G-T c.412G>T p.G138C Missense 4/10 - 1
18-60021750-TGGGCGCCCAGCACCCGTGTAC-T c.414_427+7del - SpliceDonorDeletion 4/10 4/9 1
18-60021755-G-A c.415G>A p.A139T Missense 4/10 - 2
18-60021755-G-C c.415G>C p.A139P Missense 4/10 - 1
18-60021757-C-T c.417C>T p.A139= Synonymous 4/10 - 2
18-60021758-C-A c.418C>A p.Q140K Missense 4/10 - 1
18-60021759-A-C c.419A>C p.Q140P Missense 4/10 - 1
18-60021761-C-A c.421C>A p.H141N Missense 4/10 - 1
18-60021761-C-T c.421C>T p.H141Y Missense 4/10 - 31
18-60021763-C-T c.423C>T p.H141= Synonymous 4/10 - 2
18-60021764-C-T c.424C>T p.P142S Missense 4/10 - 2
18-60021765-C-A c.425C>A p.P142Q Missense 4/10 - 1
18-60021765-C-T c.425C>T p.P142L Missense 4/10 - 1
18-60021766-G-A c.426G>A p.P142= Synonymous 4/10 - 3
18-60021766-G-C c.426G>C p.P142= Synonymous 4/10 - 2
18-60021766-G-T c.426G>T p.P142= Synonymous 4/10 - 2
18-60021767-T-C c.427T>C p.L143= Synonymous 4/10 - 1
18-60023282-G-A c.427+1515G>A - IntronicSNV - 4/9 1
18-60023794-G-A c.428-1687G>A - IntronicSNV - 4/9 3
18-60024065-T-A c.428-1416T>A - IntronicSNV - 4/9 1
18-60024435-A-G c.428-1046A>G - IntronicSNV - 4/9 2
18-60025375-C-T c.428-106C>T - IntronicSNV - 4/9 3
18-60025459-T-G c.428-22T>G - IntronicSNV - 4/9 1
18-60025481-T-A c.428T>A p.L143* Nonsense 5/10 - 1
18-60025486-C-G c.433C>G p.L145V Missense 5/10 - 1
18-60025488-C-A c.435C>A p.L145= Synonymous 5/10 - 1
18-60025488-C-G c.435C>G p.L145= Synonymous 5/10 - 1
18-60025488-C-T c.435C>T p.L145= Synonymous 5/10 - 1
18-60025489-A-G c.436A>G p.N146D Missense 5/10 - 1
18-60025491-C-A c.438C>A p.N146K Missense 5/10 - 1
18-60025491-C-G c.438C>G p.N146K Missense 5/10 - 1
18-60025496-A-T c.443A>T p.D148V Missense 5/10 - 1
18-60025498-ACA-TGT c.445_447inv p.T149C Missense 5/10 - 3
18-60025498-A-G c.445A>G p.T149A Missense 5/10 - 1
18-60025495-GAC-G c.446_447del p.T149Sfs*12 Frameshift 5/10 - 1
18-60025502-T-C c.449T>C p.V150A Missense 5/10 - 1
18-60025508-A-G c.455A>G p.K152R Missense 5/10 - 1
18-60025514-G-A c.461G>A p.C154Y Missense 5/10 - 3
18-60025514-G-T c.461G>T p.C154F Missense 5/10 - 2
18-60025516-C-T c.463C>T p.L155F Missense 5/10 - 3
18-60025516-CT-GG c.463_464delinsGG p.L155G Missense 5/10 - 1
18-60025519-G-A c.466G>A p.A156T Missense 5/10 - 2
18-60025519-G-T c.466G>T p.A156S Missense 5/10 - 1
18-60025522-G-A c.469G>A p.G157S Missense 5/10 - 1
18-60025526-A-T c.473A>T p.Y158F Missense 5/10 - 1
18-60025532-C-T c.479C>T p.S160F Missense 5/10 - 1
18-60025534-G-T c.481G>T p.D161Y Missense 5/10 - 2
18-60025535-A-T c.482A>T p.D161V Missense 5/10 - 1
18-60025538-C-A c.485C>A p.A162D Missense 5/10 - 1
18-60025540-T-C c.487T>C p.F163L Missense 5/10 - 1
18-60025543-T-C c.490T>C p.S164P Missense 5/10 - 1
18-60025544-C-T c.491C>T p.S164F Missense 5/10 - 1
18-60025545-C-A c.492C>A p.S164= Synonymous 5/10 - 1
18-60025545-C-G c.492C>G p.S164= Synonymous 5/10 - 1
18-60025545-C-T c.492C>T p.S164= Synonymous 5/10 - 1
18-60025549-A-T c.496A>T p.T166S Missense 5/10 - 1
18-60025550-C-T c.497C>T p.T166M Missense 5/10 - 6
18-60025552-G-A c.499G>A p.D167N Missense 5/10 - 1
18-60025561-A-G c.508A>G p.R170G Missense 5/10 - 8
18-60025568-G-A c.515G>A p.W172* Nonsense 5/10 - 1
18-60025569-G-T c.516G>T p.W172C Missense 5/10 - 1
18-60025570-A-G c.517A>G p.T173A Missense 5/10 - 1
18-60025571-C-T c.518C>T p.T173I Missense 5/10 - 4
18-60025570-AC-A c.519del p.N174Tfs*9 Frameshift 5/10 - 1
18-60025572-CA-C c.521del p.N174Tfs*9 Frameshift 5/10 - 1
18-60025809-T-C c.521+235T>C - IntronicSNV - 5/9 1
18-60026732-C-T c.522-456C>T - IntronicSNV - 5/9 1
18-60026926-C-T c.522-262C>T - IntronicSNV - 5/9 1
18-60026931-G-C c.522-257G>C - IntronicSNV - 5/9 1
18-60026931-G-T c.522-257G>T - IntronicSNV - 5/9 1
18-60027005-T-A c.522-183T>A - IntronicSNV - 5/9 6
18-60027078-G-A c.522-110G>A - IntronicSNV - 5/9 1
18-60027149-T-A c.522-39T>A - IntronicSNV - 5/9 11
18-60027171-C-G c.522-17C>G - IntronicSNV - 5/9 15
18-60027171-C-T c.522-17C>T - IntronicSNV - 5/9 15
18-60027189-T-C c.523T>C p.C175R Missense 6/10 - 8
18-60027191-T-C c.525T>C p.C175= Synonymous 6/10 - 2
18-60027196-T-G c.530T>G p.F177C Missense 6/10 - 1
18-60027205-A-G c.539A>G p.K180R Missense 6/10 - 3
18-60027209-A-C c.543A>C p.R181S Missense 6/10 - 1
18-60027209-A-T c.543A>T p.R181S Missense 6/10 - 2
18-60027210-G-A c.544G>A p.V182I Missense 6/10 - 1
18-60027211-T-C c.545T>C p.V182A Missense 6/10 - 4
18-60027214-A-G c.548A>G p.E183G Missense 6/10 - 1
18-60027215-A-G c.549A>G p.E183= Synonymous 6/10 - 1
18-60027216-C-T c.550C>T p.H184Y Missense 6/10 - 1
18-60027217-A-G c.551A>G p.H184R Missense 6/10 - 1
18-60027225-A-G c.559A>G p.T187A Missense 6/10 - 3
18-60027226-AC-A c.560del p.T187Kfs*28 Frameshift 6/10 - 1
18-60027228-G-A c.562G>A p.E188K Missense 6/10 - 4
18-60027230-G-C c.564G>C p.E188D Missense 6/10 - 1
18-60027230-G-T c.564G>T p.E188D Missense 6/10 - 1
18-60027231-AA-GC c.565_566delinsGC p.K189A Missense 6/10 - 1
18-60027232-A-C c.566A>C p.K189T Missense 6/10 - 1
18-60027236-C-T c.570C>T p.S190= Synonymous 6/10 - 3
18-60027237-G-A c.571G>A p.D191N Missense 6/10 - 4
18-60027240-G-A c.574G>A p.A192T Missense 6/10 - 2
18-60027241-C-T c.575C>T p.A192V Missense 6/10 - 74
18-60027242-G-T c.576G>T p.A192= Synonymous 6/10 - 1
18-60027247-G-A c.581G>A p.C194Y Missense 6/10 - 1
18-60027248-C-A c.582C>A p.C194* Nonsense 6/10 - 1
18-60027262-C-T c.596C>T p.P199L Missense 6/10 - 1
18-60027267-AGA-CAT c.601_603delinsCAT p.R201H Missense 6/10 - 2
18-60027267-AGA-TGT c.601_603delinsTGT p.R201C Missense 6/10 - 5
18-60027274-C-T c.608C>T p.P203L Missense 6/10 - 1
18-60027276-C-A c.610C>A p.P204T Missense 6/10 - 1
18-60027279-A-C c.613A>C p.N205H Missense 6/10 - 2
18-60027283-G-T c.616+1G>T - IntronicSNV - 6/9 1
18-60027285-A-G c.616+3A>G - IntronicSNV - 6/9 2
18-60027361-G-A c.616+79G>A - IntronicSNV - 6/9 9
18-60027448-G-A c.616+166G>A - IntronicSNV - 6/9 4
18-60027448-G-T c.616+166G>T - IntronicSNV - 6/9 3
18-60028008-A-G c.616+726A>G - IntronicSNV - 6/9 2
18-60028008-A-T c.616+726A>T - IntronicSNV - 6/9 2
18-60028128-G-A c.617-785G>A - IntronicSNV - 6/9 2
18-60028244-A-G c.617-669A>G - IntronicSNV - 6/9 3
18-60028586-A-G c.617-327A>G - IntronicSNV - 6/9 1
18-60028655-A-C c.617-258A>C - IntronicSNV - 6/9 7
18-60028655-A-G c.617-258A>G - IntronicSNV - 6/9 7
18-60028655-A-T c.617-258A>T - IntronicSNV - 6/9 7
18-60028668-G-A c.617-245G>A - IntronicSNV - 6/9 1
18-60028762-G-A c.617-151G>A - IntronicSNV - 6/9 2
18-60028821-G-T c.617-92G>T - IntronicSNV - 6/9 6
18-60028858-C-T c.617-55C>T - IntronicSNV - 6/9 3
18-60028885-C-G c.617-28C>G - IntronicSNV - 6/9 1
18-60028921-G-A c.625G>A p.V209I Missense 7/10 - 1
18-60028924-T-C c.628T>C p.Y210H Missense 7/10 - 1
18-60028927-T-C c.631T>C p.L211= Synonymous 7/10 - 1
18-60028929-G-A c.633G>A p.L211L UnclassifiedSNV 7/10 - 2
18-60028933-G-A c.637G>A p.G213S Missense 7/10 - 2
18-60028941-A-G c.645A>G p.I215M Missense 7/10 - 1
18-60028957-G-A c.661G>A p.A221T Missense 7/10 - 4
18-60028958-C-T c.662C>T p.A221V Missense 7/10 - 4
18-60028959-G-A c.663G>A p.A221= Synonymous 7/10 - 2
18-60028959-G-C c.663G>C p.A221= Synonymous 7/10 - 2
18-60028959-G-T c.663G>T p.A221= Synonymous 7/10 - 2
18-60028961-C-T c.665C>T p.S222F Missense 7/10 - 2
18-60028966-G-A c.670G>A p.A224T Missense 7/10 - 1
18-60028968-C-A c.672C>A p.A224= Synonymous 7/10 - 1
18-60028968-C-G c.672C>G p.A224= Synonymous 7/10 - 1
18-60028968-C-T c.672C>T p.A224= Synonymous 7/10 - 2
18-60028971-G-A c.675G>A p.L225= Synonymous 7/10 - 1
18-60028980-C-T c.684C>T p.A228= Synonymous 7/10 - 1
18-60028982-T-C c.686T>C p.I229T Missense 7/10 - 1
18-60028991-GC-AG c.695_696delinsAG p.G232E Missense 7/10 - 2
18-60028991-G-T c.695G>T p.G232V Missense 7/10 - 3
18-60028993-G-A c.697G>A p.V233I Missense 7/10 - 4
18-60029000-A-G c.704A>G p.Y235C Missense 7/10 - 1
18-60029000-A-T c.704A>T p.Y235F Missense 7/10 - 2
18-60029002-AGG-CAT c.706_708delinsCAT p.R236H Missense 7/10 - 1
18-60029003-G-T c.707G>T p.R236M Missense 7/10 - 1
18-60029004-G-A c.708G>A p.R236= Synonymous 7/10 - 4
18-60029004-G-C c.708G>C p.R236S Missense 7/10 - 1
18-60029004-G-T c.708G>T p.R236S Missense 7/10 - 1
18-60029007-A-AT c.711_712insT p.K238* Nonsense 7/10 - 1
18-60029004-GA-G c.714del p.A241Hfs*17 Frameshift 7/10 - 2
18-60029004-G-GA c.714dup p.G239Rfs*7 Frameshift 7/10 - 1
18-60029011-GGG-AGC c.715_717delinsAGC p.G239S Missense 7/10 - 1
18-60029014-A-G c.718A>G p.K240E Missense 7/10 - 6
18-60029017-G-A c.721G>A p.A241T Missense 7/10 - 1
18-60029020-C-T c.724C>T p.L242F Missense 7/10 - 2
18-60029026-G-A c.730G>A p.A244T Missense 7/10 - 1
18-60029026-G-T c.730G>T p.A244S Missense 7/10 - 5
18-60029122-A-G c.730+96A>G - IntronicSNV - 7/9 2
18-60029122-A-T c.730+96A>T - IntronicSNV - 7/9 2
18-60029217-T-C c.730+191T>C - IntronicSNV - 7/9 5
18-60029238-G-C c.730+212G>C - IntronicSNV - 7/9 7
18-60029281-A-G c.730+255A>G - IntronicSNV - 7/9 1
18-60029292-G-A c.730+266G>A - IntronicSNV - 7/9 1
18-60031039-T-G c.730+2013T>G - IntronicSNV - 7/9 1
18-60031599-C-T c.731-2342C>T - IntronicSNV - 7/9 1
18-60031763-T-C c.731-2178T>C - IntronicSNV - 7/9 6
18-60031904-A-G c.731-2037A>G - IntronicSNV - 7/9 3
18-60032891-A-G c.731-1050A>G - IntronicSNV - 7/9 1
18-60032949-G-A c.731-992G>A - IntronicSNV - 7/9 10
18-60033941-C-T c.731C>T p.A244V Missense 8/10 - 1
18-60033943-A-C c.733A>C p.N245H Missense 8/10 - 1
18-60033950-G-A c.740G>A p.W247* Nonsense 8/10 - 2
18-60033951-G-A c.741G>A p.W247* Nonsense 8/10 - 3
18-60033952-C-T c.742C>T p.H248Y Missense 8/10 - 3
18-60033952-GC-G c.742del p.H248Tfs*10 Frameshift 8/10 - 1
18-60033953-A-G c.743A>G p.H248R Missense 8/10 - 1
18-60033956-G-A c.746G>A p.W249* Nonsense 8/10 - 1
18-60033968-C-T c.758C>T p.A253V Missense 8/10 - 2
18-60033969-T-A c.759T>A p.A253= Synonymous 8/10 - 2
18-60033969-T-C c.759T>C p.A253= Synonymous 8/10 - 2
18-60033969-T-G c.759T>G p.A253= Synonymous 8/10 - 2
18-60033971-G-T c.761G>T p.C254F Missense 8/10 - 1
18-60033973-G-T c.763G>T p.G255C Missense 8/10 - 1
18-60033975-C-A c.765C>A p.G255= Synonymous 8/10 - 1
18-60033975-C-G c.765C>G p.G255= Synonymous 8/10 - 1
18-60033975-C-T c.765C>T p.G255= Synonymous 8/10 - 2
18-60033977-G-A c.767G>A p.R256H Missense 8/10 - 4
18-60033977-G-C c.767G>C p.R256P Missense 8/10 - 1
18-60034083-C-T c.783+90C>T - IntronicSNV - 8/9 1
18-60034075-AC-A c.783+91del - IntronicDeletion - 8/9 1
18-60034085-A-C c.783+92A>C - IntronicSNV - 8/9 1
18-60034276-C-T c.783+283C>T - IntronicSNV - 8/9 1
18-60034542-AT-A c.783+557del - IntronicDeletion - 8/9 1
18-60035934-G-A c.784G>A p.E262K Missense 9/10 - 2
18-60035934-G-T c.784G>T p.E262* Nonsense 9/10 - 2
18-60035929-GGCAGGAGTCCTCAGGTGACAGTTGTGTCAGTACACACACGGCAAACTTTGGTCA-G c.785_838del p.E262_Q279del InFrameDeletion 9/10 - 1
18-60035938-C-G c.788C>G p.S263C Missense 9/10 - 1
18-60035940-TCA-GAC c.790_792delinsGAC p.S264D Missense 9/10 - 1
18-60035940-T-G c.790T>G p.S264A Missense 9/10 - 1
18-60035945-T-A c.795T>A p.G265= Synonymous 9/10 - 1
18-60035945-T-C c.795T>C p.G265= Synonymous 9/10 - 1
18-60035945-T-G c.795T>G p.G265= Synonymous 9/10 - 1
18-60035946-G-A c.796G>A p.D266N Missense 9/10 - 1
18-60035948-C-A c.798C>A p.D266E Missense 9/10 - 1
18-60035948-C-G c.798C>G p.D266E Missense 9/10 - 1
18-60035948-C-T c.798C>T p.D266= Synonymous 9/10 - 1
18-60035949-AGT-GAG c.799_801delinsGAG p.S267E Missense 9/10 - 1
18-60035949-A-C c.799A>C p.S267R Missense 9/10 - 1
18-60035955-G-T c.805G>T p.V269F Missense 9/10 - 1
18-60035961-A-G c.811A>G p.T271A Missense 9/10 - 1
18-60035962-C-T c.812C>T p.T271I Missense 9/10 - 1
18-60035967-ACG-GAC c.817_819delinsGAC p.T273D Missense 9/10 - 1
18-60035970-G-A c.820G>A p.A274T Missense 9/10 - 2
18-60035979-G-A c.829G>A p.G277S Missense 9/10 - 1
18-60035981-T-A c.831T>A p.G277= Synonymous 9/10 - 1
18-60035981-T-C c.831T>C p.G277= Synonymous 9/10 - 1
18-60035981-T-G c.831T>G p.G277= Synonymous 9/10 - 1
18-60035987-G-C c.837G>C p.Q279H Missense 9/10 - 1
18-60035987-G-T c.837G>T p.Q279H Missense 9/10 - 1
18-60035988-G-T c.838G>T p.G280* Nonsense 9/10 - 4
18-60035989-G-GAGGCC c.841_842insGCCAG p.A281Gfs*10 Frameshift 9/10 - 1
18-60035995-G-A c.845G>A p.C282Y Missense 9/10 - 1
18-60035999-A-G c.849A>G p.E283= Synonymous 9/10 - 1
18-60036000-G-A c.850G>A p.G284S Missense 9/10 - 1
18-60036001-G-C c.851G>C p.G284A Missense 9/10 - 1
18-60036015-A-T c.865A>T p.T289S Missense 9/10 - 1
18-60036018-C-T c.868C>T p.L290= Synonymous 9/10 - 1
18-60036021-G-A c.871G>A p.E291K Missense 9/10 - 1
18-60036024-G-A c.874G>A p.E292K Missense 9/10 - 2
18-60036026-G-A c.876G>A p.E292= Synonymous 9/10 - 1
18-60036029-G-A c.879G>A p.K293= Synonymous 9/10 - 4
18-60036029-G-C c.879G>C p.K293N Missense 9/10 - 1
18-60036029-G-T c.879G>T p.K293N Missense 9/10 - 1
18-60036031-C-A c.881C>A p.T294K Missense 9/10 - 1
18-60036033-T-C c.883T>C p.F295L Missense 9/10 - 1
18-60036036-C-T c.886C>T p.P296S Missense 9/10 - 5
18-60036037-C-T c.887C>T p.P296L Missense 9/10 - 1
18-60036038-A-C c.888A>C p.P296= Synonymous 9/10 - 1
18-60036038-A-G c.888A>G p.P296= Synonymous 9/10 - 1
18-60036038-A-T c.888A>T p.P296= Synonymous 9/10 - 1
18-60036041-A-G c.891A>G p.E297= Synonymous 9/10 - 3
18-60036045-A-G c.895A>G p.M299V Missense 9/10 - 2
18-60036046-T-C c.896T>C p.M299T Missense 9/10 - 2
18-60036057-GAT-AAG c.907_909delinsAAG p.D303K Missense 9/10 - 1
18-60036057-G-T c.907G>T p.D303Y Missense 9/10 - 2
18-60036058-A-C c.908A>C p.D303A Missense 9/10 - 1
18-60036059-T-C c.909T>C p.D303= Synonymous 9/10 - 2
18-60036067-G-A c.917G>A p.G306D Missense 9/10 - 2
18-60036067-GT-AG c.917_918delinsAG p.G306E Missense 9/10 - 1
18-60036076-A-G c.926A>G p.Q309R Missense 9/10 - 1
18-60036082-C-T c.932C>T p.T311I Missense 9/10 - 2
18-60036083-A-G c.933A>G p.T311= Synonymous 9/10 - 37
18-60036083-A-T c.933A>T p.T311= Synonymous 9/10 - 19
18-60036084-T-G c.934T>G p.C312G Missense 9/10 - 1
18-60036088-T-C c.938T>C p.V313A Missense 9/10 - 1
18-60036089-A-C c.939A>C p.V313= Synonymous 9/10 - 1
18-60036089-A-G c.939A>G p.V313= Synonymous 9/10 - 1
18-60036089-A-T c.939A>T p.V313= Synonymous 9/10 - 1
18-60036091-G-A c.941G>A p.G314E Missense 9/10 - 2
18-60036096-G-A c.946G>A p.G316S Missense 9/10 - 1
18-60036097-G-A c.947G>A p.G316D Missense 9/10 - 1
18-60036100-C-T c.950C>T p.P317L Missense 9/10 - 3
18-60036102-T-C c.952T>C p.Y318H Missense 9/10 - 1
18-60036103-A-T c.953A>T p.Y318F Missense 9/10 - 1
18-60036104-C-T c.954C>T p.Y318= Synonymous 9/10 - 2
18-60036105-G-A c.955G>A p.A319T Missense 9/10 - 7
18-60036106-C-T c.956C>T p.A319V Missense 9/10 - 1
18-60036110-A-T c.960A>T p.Q320H Missense 9/10 - 5
18-60036114-G-A c.964G>A p.E322K Missense 9/10 - 5
18-60036117-G-A c.967G>A p.D323N Missense 9/10 - 2
18-60036121-C-G c.971C>G p.A324G Missense 9/10 - 1
18-60036132-T-G c.982T>G p.S328A Missense 9/10 - 1
18-60036135-TT-CC c.985_986delinsCC p.L329P Missense 9/10 - 1
18-60036139-T-C c.989T>C p.V330A Missense 9/10 - 2
18-60036150-G-A c.1000G>A p.E334K Missense 9/10 - 6
18-60036158-G-A c.1008G>A p.E336= Synonymous 9/10 - 1
18-60036159-G-A c.1009G>A p.E337K Missense 9/10 - 2
18-60036162-G-A c.1012G>A p.D338N Missense 9/10 - 1
18-60036165-A-T c.1015A>T p.S339C Missense 9/10 - 1
18-60036168-T-A c.1018T>A p.F340I Missense 9/10 - 1
18-60036170-C-T c.1020C>T p.F340= Synonymous 9/10 - 1
18-60036174-C-T c.1024C>T p.Q342* Nonsense 9/10 - 1
18-60036175-A-G c.1025A>G p.Q342R Missense 9/10 - 1
18-60036181-C-A c.1031C>A p.P344H Missense 9/10 - 3
18-60036183-A-G c.1033A>G p.T345A Missense 9/10 - 1
18-60036184-CA-TG c.1034_1035inv p.T345M Missense 9/10 - 1
18-60036184-C-T c.1034C>T p.T345I Missense 9/10 - 1
18-60036186-G-T c.1036G>T p.E346* Nonsense 9/10 - 3
18-60036187-A-G c.1037A>G p.E346G Missense 9/10 - 1
18-60036196-A-G c.1046A>G p.Y349C Missense 9/10 - 2
18-60036200-G-A c.1050G>A p.M350I Missense 9/10 - 2
18-60036200-G-C c.1050G>C p.M350I Missense 9/10 - 1
18-60036200-G-T c.1050G>T p.M350I Missense 9/10 - 1
18-60036203-C-A c.1053C>A p.D351E Missense 9/10 - 1
18-60036203-C-G c.1053C>G p.D351E Missense 9/10 - 1
18-60036204-A-T c.1054A>T p.R352W Missense 9/10 - 1
18-60036206-G-C c.1056G>C p.R352S Missense 9/10 - 1
18-60036206-G-T c.1056G>T p.R352S Missense 9/10 - 1
18-60036208-CC-AA c.1058_1059delinsAA p.P353Q Missense 9/10 - 1
18-60036211-C-G c.1061C>G p.S354C Missense 9/10 - 2
18-60036217-C-T c.1067C>T p.P356L Missense 9/10 - 1
18-60036220-C-T c.1070C>T p.T357I Missense 9/10 - 1
18-60036221-A-C c.1071A>C p.T357= Synonymous 9/10 - 1
18-60036221-A-G c.1071A>G p.T357= Synonymous 9/10 - 1
18-60036221-A-T c.1071A>T p.T357= Synonymous 9/10 - 1
18-60036227-G-A c.1077G>A p.Q359= Synonymous 9/10 - 2
18-60036234-T-C c.1084T>C p.F362L Missense 9/10 - 1
18-60036236-C-A c.1086C>A p.F362L Missense 9/10 - 1
18-60036236-C-G c.1086C>G p.F362L Missense 9/10 - 1
18-60036236-C-T c.1086C>T p.F362= Synonymous 9/10 - 2
18-60036247-C-T c.1097C>T p.P366L Missense 9/10 - 1
18-60036248-T-C c.1098T>C p.P366= Synonymous 9/10 - 2
18-60036254-C-A c.1104C>A p.S368R Missense 9/10 - 1
18-60036259-C-T c.1109C>T p.S370F Missense 9/10 - 2
18-60036260-C-A c.1110C>A p.S370= Synonymous 9/10 - 1
18-60036260-C-G c.1110C>G p.S370= Synonymous 9/10 - 1
18-60036260-C-T c.1110C>T p.S370= Synonymous 9/10 - 1
18-60036262-C-A c.1112C>A p.T371K Missense 9/10 - 1
18-60036262-C-T c.1112C>T p.T371I Missense 9/10 - 1
18-60036263-A-C c.1113A>C p.T371= Synonymous 9/10 - 1
18-60036263-A-G c.1113A>G p.T371= Synonymous 9/10 - 1
18-60036263-A-T c.1113A>T p.T371= Synonymous 9/10 - 1
18-60036265-C-A c.1115C>A p.P372H Missense 9/10 - 2
18-60036266-T-C c.1116T>C p.P372= Synonymous 9/10 - 1
18-60036267-C-A c.1117C>A p.P373T Missense 9/10 - 2
18-60036267-C-T c.1117C>T p.P373S Missense 9/10 - 1
18-60036274-C-A c.1124C>A p.S375Y Missense 9/10 - 1
18-60036280-C-T c.1130C>T p.P377L Missense 9/10 - 1
18-60036288-G-T c.1138G>T p.V380L Missense 9/10 - 1
18-60036291-G-T c.1141G>T p.G381W Missense 9/10 - 3
18-60036293-G-A c.1143G>A p.G381= Synonymous 9/10 - 5
18-60036293-G-C c.1143G>C p.G381= Synonymous 9/10 - 1
18-60036293-G-T c.1143G>T p.G381= Synonymous 9/10 - 1
18-60036294-G-T c.1144G>T p.E382* Nonsense 9/10 - 1
18-60036306-TT-GC c.1156_1157delinsGC p.L386A Missense 9/10 - 1
18-60036315-T-A c.1165T>A p.C389S Missense 9/10 - 1
18-60036316-G-C c.1166G>C p.C389S Missense 9/10 - 1
18-60036324-G-A c.1174G>A p.G392R Missense 9/10 - 1
18-60036324-G-T c.1174G>T p.G392W Missense 9/10 - 1
18-60036326-G-A c.1176G>A p.G392= Synonymous 9/10 - 1
18-60036327-ACA-TGT c.1177_1179inv p.T393C Missense 9/10 - 1
18-60036335-C-G c.1185C>G p.S395R Missense 9/10 - 1
18-60036337-C-T c.1187C>T p.T396I Missense 9/10 - 3
18-60036342-G-A c.1192G>A p.G398S Missense 9/10 - 1
18-60036340-TG-T c.1193del p.G398Vfs*128 Frameshift 9/10 - 1
18-60036343-G-A c.1193G>A p.G398D Missense 9/10 - 1
18-60036345-T-C c.1195T>C p.S399P Missense 9/10 - 1
18-60036346-C-A c.1196C>A p.S399* Nonsense 9/10 - 2
18-60036346-C-G c.1196C>G p.S399* Nonsense 9/10 - 5
18-60036354-T-C c.1204T>C p.C402R Missense 9/10 - 1
18-60036357-A-C c.1207A>C p.N403H Missense 9/10 - 1
18-60036360-TG-AC c.1210_1211delinsAC p.C404T Missense 9/10 - 1
18-60036363-A-C c.1213A>C p.T405P Missense 9/10 - 1
18-60036364-C-T c.1214C>T p.T405I Missense 9/10 - 1
18-60036366-G-A c.1216G>A p.E406K Missense 9/10 - 1
18-60036372-C-G c.1222C>G p.L408V Missense 9/10 - 1
18-60036373-T-C c.1223T>C p.L408P Missense 9/10 - 1
18-60036381-A-G c.1231A>G p.T411A Missense 9/10 - 1
18-60036384-G-T c.1234G>T p.D412Y Missense 9/10 - 1
18-60036386-T-C c.1236T>C p.D412= Synonymous 9/10 - 1
18-60036388-G-A c.1238G>A p.W413* Nonsense 9/10 - 1
18-60036389-G-A c.1239G>A p.W413* Nonsense 9/10 - 1
18-60036389-G-C c.1239G>C p.W413C Missense 9/10 - 3
18-60036389-G-T c.1239G>T p.W413C Missense 9/10 - 5
18-60036391-C-G c.1241C>G p.T414S Missense 9/10 - 1
18-60036394-C-A c.1244C>A p.P415H Missense 9/10 - 1
18-60036396-CA-C c.1246del p.M416Cfs*110 Frameshift 9/10 - 3
18-60036400-C-T c.1250C>T p.S417F Missense 9/10 - 1
18-60036409-A-C c.1259A>C p.N420T Missense 9/10 - 1
18-60036412-A-G c.1262A>G p.Y421C Missense 9/10 - 2
18-60036428-G-A c.1278G>A p.V426= Synonymous 9/10 - 1
18-60036428-G-C c.1278G>C p.V426= Synonymous 9/10 - 1
18-60036428-G-T c.1278G>T p.V426= Synonymous 9/10 - 1
18-60036429-G-A c.1279G>A p.D427N Missense 9/10 - 7
18-60036430-A-G c.1280A>G p.D427G Missense 9/10 - 1
18-60036437-C-A c.1287C>A p.G429= Synonymous 9/10 - 1
18-60036437-C-G c.1287C>G p.G429= Synonymous 9/10 - 1
18-60036437-C-T c.1287C>T p.G429= Synonymous 9/10 - 2
18-60036442-G-T c.1292G>T p.C431F Missense 9/10 - 1
18-60036443-C-A c.1293C>A p.C431* Nonsense 9/10 - 5
18-60036445-C-T c.1295C>T p.P432L Missense 9/10 - 5
18-60036449-C-T c.1299C>T p.H433= Synonymous 9/10 - 1
18-60036451-G-A c.1301G>A p.W434* Nonsense 9/10 - 3
18-60036459-A-G c.1309A>G p.S437G Missense 9/10 - 1
18-60036460-G-A c.1310G>A p.S437N Missense 9/10 - 1
18-60036460-G-T c.1310G>T p.S437I Missense 9/10 - 1
18-60036462-C-T c.1312C>T p.P438S Missense 9/10 - 2
18-60036468-C-A c.1318C>A p.P440T Missense 9/10 - 1
18-60036469-C-T c.1319C>T p.P440L Missense 9/10 - 1
18-60036475-G-A c.1325G>A p.W442* Nonsense 9/10 - 1
18-60036476-G-A c.1326G>A p.W442* Nonsense 9/10 - 1
18-60036483-G-T c.1333G>T p.V445F Missense 9/10 - 1
18-60036491-A-G c.1341A>G p.T447= Synonymous 9/10 - 1
18-60036493-G-A c.1343G>A p.G448D Missense 9/10 - 1
18-60036493-G-T c.1343G>T p.G448V Missense 9/10 - 1
18-60036496-G-A c.1346G>A p.C449Y Missense 9/10 - 1
18-60036497-C-G c.1347C>G p.C449W Missense 9/10 - 1
18-60036498-C-T c.1348C>T p.R450W Missense 9/10 - 3
18-60036499-G-A c.1349G>A p.R450Q Missense 9/10 - 1
18-60036499-G-C c.1349G>C p.R450P Missense 9/10 - 1
18-60036499-G-T c.1349G>T p.R450L Missense 9/10 - 1
18-60036500-G-A c.1350G>A p.R450= Synonymous 9/10 - 1
18-60036504-C-T c.1354C>T p.P452S Missense 9/10 - 3
18-60036505-C-T c.1355C>T p.P452L Missense 9/10 - 1
18-60036507-C-G c.1357C>G p.P453A Missense 9/10 - 1
18-60036509-T-C c.1359T>C p.P453= Synonymous 9/10 - 1
18-60036512-G-GT c.1362_1363insT p.E455* Nonsense 9/10 - 1
18-60036514-A-T c.1364A>T p.E455V Missense 9/10 - 5
18-60036516-G-A c.1366G>A p.D456N Missense 9/10 - 1
18-60036520-G-A c.1370G>A p.C457Y Missense 9/10 - 1
18-60036518-CTG-C c.1371_1372del p.C457* Frameshift 9/10 - 1
18-60036521-T-G c.1371T>G p.C457W Missense 9/10 - 1
18-60036526-C-CCACGAGGGGTTCACAGT c.1377_1378insACGAGGGGTTCACAGTC p.L460Tfs*72 Frameshift 9/10 - 1
18-60036528-C-T c.1378C>T p.L460F Missense 9/10 - 3
18-60036531-G-A c.1381G>A p.V461M Missense 9/10 - 3
18-60036534-G-T c.1384G>T p.G462C Missense 9/10 - 1
18-60036538-C-G c.1388C>G p.S463C Missense 9/10 - 1
18-60036538-C-T c.1388C>T p.S463F Missense 9/10 - 3
18-60036539-C-T c.1389C>T p.S463= Synonymous 9/10 - 2
18-60036543-A-G c.1393A>G p.K465E Missense 9/10 - 1
18-60036546-C-T c.1396C>T p.R466C Missense 9/10 - 1
18-60036547-G-A c.1397G>A p.R466H Missense 9/10 - 1
18-60036549-G-T c.1399G>T p.G467* Nonsense 9/10 - 4
18-60036552-C-T c.1402C>T p.P468S Missense 9/10 - 3
18-60036557-G-C c.1407G>C p.L469F Missense 9/10 - 1
18-60036557-G-T c.1407G>T p.L469F Missense 9/10 - 1
18-60036560-C-T c.1410C>T p.P470= Synonymous 9/10 - 2
18-60036563-G-T c.1413G>T p.Q471H Missense 9/10 - 1
18-60036564-TG-GC c.1414_1415delinsGC p.C472A Missense 9/10 - 1
18-60036565-G-T c.1415G>T p.C472F Missense 9/10 - 2
18-60036567-G-A c.1417G>A p.A473T Missense 9/10 - 3
18-60036569-C-A c.1419C>A p.A473= Synonymous 9/10 - 1
18-60036569-C-G c.1419C>G p.A473= Synonymous 9/10 - 1
18-60036569-C-T c.1419C>T p.A473= Synonymous 9/10 - 1
18-60036585-C-G c.1435C>G p.P479A Missense 9/10 - 1
18-60036585-C-T c.1435C>T p.P479S Missense 9/10 - 2
18-60036586-C-G c.1436C>G p.P479R Missense 9/10 - 1
18-60036586-C-T c.1436C>T p.P479L Missense 9/10 - 1
18-60036587-C-A c.1437C>A p.P479= Synonymous 9/10 - 1
18-60036589-C-T c.1439C>T p.P480L Missense 9/10 - 1
18-60036591-G-A c.1441G>A p.E481K Missense 9/10 - 3
18-60036594-G-T c.1444G>T p.E482* Nonsense 9/10 - 1
18-60036590-TGAA-T c.1448_1450del p.E483del InFrameDeletion 9/10 - 1
18-60036601-C-T c.1451C>T p.A484V Missense 9/10 - 1
18-60036604-G-A c.1454G>A p.S485N Missense 9/10 - 1
18-60036610-CG-AC c.1460_1461delinsAC p.T487N Missense 9/10 - 1
18-60036610-C-T c.1460C>T p.T487M Missense 9/10 - 1
18-60036611-G-A c.1461G>A p.T487= Synonymous 9/10 - 1
18-60036612-G-T c.1462G>T p.E488* Nonsense 9/10 - 1
18-60036614-G-T c.1464G>T p.E488D Missense 9/10 - 1
18-60036628-C-A c.1478C>A p.P493H Missense 9/10 - 1
18-60036630-G-A c.1480G>A p.E494K Missense 9/10 - 2
18-60036642-G-T c.1492G>T p.D498Y Missense 9/10 - 1
18-60036643-A-G c.1493A>G p.D498G Missense 9/10 - 1
18-60036647-G-A c.1497G>A p.G499= Synonymous 9/10 - 1
18-60036647-G-C c.1497G>C p.G499= Synonymous 9/10 - 1
18-60036647-G-T c.1497G>T p.G499= Synonymous 9/10 - 1
18-60036648-A-T c.1498A>T p.R500W Missense 9/10 - 1
18-60036649-G-A c.1499G>A p.R500K Missense 9/10 - 4
18-60036649-GG-AA c.1499_1500delinsAA p.R500K Missense 9/10 - 1
18-60036648-A-C c.1498A>C p.R500= Synonymous 9/10 - 1
18-60036650-G-A c.1500G>A p.R500= Synonymous 9/10 - 2
18-60036651-C-T c.1501C>T p.L501F Missense 9/10 - 1
18-60036657-AG-CC c.1507_1508delinsCC p.S503P Missense 9/10 - 1
18-60036657-AG-GC c.1507_1508delinsGC p.S503A Missense 9/10 - 1
18-60036663-G-A c.1513G>A p.A505T Missense 9/10 - 1
18-60036664-C-T c.1514C>T p.A505V Missense 9/10 - 6
18-60036666-A-G c.1516A>G p.R506G Missense 9/10 - 1
18-60036668-G-C c.1518G>C p.R506S Missense 9/10 - 2
18-60036668-G-T c.1518G>T p.R506S Missense 9/10 - 2
18-60036669-G-A c.1519G>A p.A507T Missense 9/10 - 11
18-60036673-G-T c.1523G>T p.G508V Missense 9/10 - 2
18-60036678-G-A c.1528G>A p.G510R Missense 9/10 - 2
18-60036678-G-C c.1528G>C p.G510R Missense 9/10 - 1
18-60036678-G-T c.1528G>T p.G510W Missense 9/10 - 1
18-60036679-G-T c.1529G>T p.G510V Missense 9/10 - 1
18-60036681-T-G c.1531T>G p.S511A Missense 9/10 - 1
18-60036685-G-A c.1535G>A p.G512E Missense 9/10 - 2
18-60036685-G-C c.1535G>C p.G512A Missense 9/10 - 1
18-60036692-C-T c.1542C>T p.S514= Synonymous 9/10 - 4
18-60036699-G-A c.1549G>A p.G517S Missense 9/10 - 1
18-60036706-C-G c.1556C>G p.S519C Missense 9/10 - 1
18-60036706-C-T c.1556C>T p.S519F Missense 9/10 - 1
18-60036708-C-G c.1558C>G p.P520A Missense 9/10 - 1
18-60036711-G-A c.1561G>A p.A521T Missense 9/10 - 1
18-60036712-C-G c.1562C>G p.A521G Missense 9/10 - 1
18-60037800-G-T c.1567+1083G>T - IntronicSNV - 9/9 3
18-60038609-C-G c.1567+1892C>G - IntronicSNV - 9/9 1
18-60038989-G-A c.1567+2272G>A - IntronicSNV - 9/9 1
18-60038989-G-T c.1567+2272G>T - IntronicSNV - 9/9 1
18-60039309-T-G c.1567+2592T>G - IntronicSNV - 9/9 5
18-60040161-T-C c.1567+3444T>C - IntronicSNV - 9/9 2
18-60042719-TG-T c.1567+6005del - IntronicDeletion - 9/9 1
18-60042817-C-T c.1567+6100C>T - IntronicSNV - 9/9 4
18-60043729-G-A c.1567+7012G>A - IntronicSNV - 9/9 1
18-60044668-T-C c.1568-7316T>C - IntronicSNV - 9/9 2
18-60047489-G-A c.1568-4495G>A - IntronicSNV - 9/9 1
18-60048394-A-G c.1568-3590A>G - IntronicSNV - 9/9 3
18-60050054-A-T c.1568-1930A>T - IntronicSNV - 9/9 1
18-60050641-G-A c.1568-1343G>A - IntronicSNV - 9/9 1
18-60051199-C-A c.1568-785C>A - IntronicSNV - 9/9 11
18-60051199-C-G c.1568-785C>G - IntronicSNV - 9/9 11
18-60051199-C-T c.1568-785C>T - IntronicSNV - 9/9 11
18-60051585-A-C c.1568-399A>C - IntronicSNV - 9/9 1
18-60051585-A-T c.1568-399A>T - IntronicSNV - 9/9 1
18-60051888-G-A c.1568-96G>A - IntronicSNV - 9/9 1
18-60051941-C-A c.1568-43C>A - IntronicSNV - 9/9 4
18-60051941-C-G c.1568-43C>G - IntronicSNV - 9/9 4
18-60051941-C-T c.1568-43C>T - IntronicSNV - 9/9 4
18-60051942-G-T c.1568-42G>T - IntronicSNV - 9/9 3
18-60051984-G-A c.1568G>A p.G523E Missense 10/10 - 1
18-60051984-G-T c.1568G>T p.G523V Missense 10/10 - 2
18-60051996-G-A c.1580G>A p.G527E Missense 10/10 - 1
18-60051996-G-C c.1580G>C p.G527A Missense 10/10 - 1
18-60052000-C-T c.1584C>T p.N528= Synonymous 10/10 - 3
18-60052007-T-G c.1591T>G p.S531A Missense 10/10 - 1
18-60052017-T-C c.1601T>C p.I534T Missense 10/10 - 1
18-60052020-C-T c.1604C>T p.S535F Missense 10/10 - 2
18-60052022-AG-GC c.1606_1607delinsGC p.S536A Missense 10/10 - 1
18-60052024-C-A c.1608C>A p.S536R Missense 10/10 - 1
18-60052024-C-T c.1608C>T p.S536= Synonymous 10/10 - 1
18-60052025-GGG-TGT c.1609_1611delinsTGT p.G537C Missense 10/10 - 1
18-60052028-CAG-TTT c.1612_1614delinsTTT p.Q538F Missense 10/10 - 1
18-60052033-G-A c.1617G>A p.V539= Synonymous 10/10 - 1
18-60052033-G-C c.1617G>C p.V539= Synonymous 10/10 - 1
18-60052033-G-T c.1617G>T p.V539= Synonymous 10/10 - 1
18-60052034-A-C c.1618A>C p.M540L Missense 10/10 - 4
18-60052034-A-G c.1618A>G p.M540V Missense 10/10 - 3
18-60052034-A-T c.1618A>T p.M540L Missense 10/10 - 1
18-60052038-A-G c.1622A>G p.N541S Missense 10/10 - 1
18-60052042-C-A c.1626C>A p.F542L Missense 10/10 - 1
18-60052041-T-A c.1625T>A p.F542Y Missense 10/10 - 4
18-60052048-C-A c.1632C>A p.G544= Synonymous 10/10 - 2
18-60052048-C-G c.1632C>G p.G544= Synonymous 10/10 - 2
18-60052048-C-T c.1632C>T p.G544= Synonymous 10/10 - 3
18-60052049-G-C c.1633G>C p.D545H Missense 10/10 - 1
18-60052054-C-A c.1638C>A p.I546= Synonymous 10/10 - 1
18-60052054-C-T c.1638C>T p.I546= Synonymous 10/10 - 1
18-60052057-C-A c.1641C>A p.I547= Synonymous 10/10 - 1
18-60052057-C-T c.1641C>T p.I547= Synonymous 10/10 - 2
18-60052058-G-T c.1642G>T p.V548L Missense 10/10 - 1
18-60052061-G-C c.1645G>C p.V549L Missense 10/10 - 1
18-60052066-C-T c.1650C>T p.Y550= Synonymous 10/10 - 2
18-60052067-G-A c.1651G>A p.V551I Missense 10/10 - 1
18-60052076-A-G c.1660A>G p.T554A Missense 10/10 - 2
18-60052080-TC-T c.1664del p.S555Cfs*121 Frameshift 10/10 - 2
18-60052084-G-A c.1668G>A p.Q556= Synonymous 10/10 - 1
18-60052085-G-A c.1669G>A p.E557K Missense 10/10 - 4
18-60052089-G-A c.1673G>A p.G558D Missense 10/10 - 1
18-60052089-G-T c.1673G>T p.G558V Missense 10/10 - 1
18-60052091-G-A c.1675G>A p.A559T Missense 10/10 - 1
18-60052091-G-T c.1675G>T p.A559S Missense 10/10 - 1
18-60052092-C-T c.1676C>T p.A559V Missense 10/10 - 1
18-60052093-G-A c.1677G>A p.A559= Synonymous 10/10 - 1
18-60052093-G-C c.1677G>C p.A559= Synonymous 10/10 - 1
18-60052098-C-A c.1682C>A p.A561E Missense 10/10 - 1
18-60052098-C-T c.1682C>T p.A561V Missense 10/10 - 1
18-60052103-G-A c.1687G>A p.A563T Missense 10/10 - 2
18-60052109-C-T c.1693C>T p.P565S Missense 10/10 - 1
18-60052110-C-G c.1694C>G p.P565R Missense 10/10 - 1
18-60052112-A-C c.1696A>C p.M566L Missense 10/10 - 1
18-60052112-A-G c.1696A>G p.M566V Missense 10/10 - 1
18-60052112-A-T c.1696A>T p.M566L Missense 10/10 - 1
18-60052114-G-A c.1698G>A p.M566I Missense 10/10 - 1
18-60052115-G-A c.1699G>A p.G567S Missense 10/10 - 4
18-60052118-CGC-TGA c.1702_1704delinsTGA p.R568* Nonsense 10/10 - 2
18-60052118-C-T c.1702C>T p.R568C Missense 10/10 - 1
18-60052119-G-A c.1703G>A p.R568H Missense 10/10 - 2
18-60052121-C-T c.1705C>T p.P569S Missense 10/10 - 1
18-60052122-C-G c.1706C>G p.P569R Missense 10/10 - 1
18-60052122-C-T c.1706C>T p.P569L Missense 10/10 - 1
18-60052127-C-A c.1711C>A p.Q571K Missense 10/10 - 1
18-60052147-C-A c.1731C>A p.R577= Synonymous 10/10 - 1
18-60052147-C-G c.1731C>G p.R577= Synonymous 10/10 - 1
18-60052147-C-T c.1731C>T p.R577= Synonymous 10/10 - 1
18-60052149-G-A c.1733G>A p.R578Q Missense 10/10 - 2
18-60052150-A-G c.1734A>G p.R578= Synonymous 10/10 - 2
18-60052155-C-G c.1739C>G p.S580C Missense 10/10 - 2
18-60052156-C-A c.1740C>A p.S580= Synonymous 10/10 - 1
18-60052162-G-A c.1746G>A p.A582= Synonymous 10/10 - 1
18-60052162-G-C c.1746G>C p.A582= Synonymous 10/10 - 1
18-60052162-G-T c.1746G>T p.A582= Synonymous 10/10 - 1
18-60052167-A-G c.1751A>G p.N584S Missense 10/10 - 2
18-60052170-G-T c.1754G>T p.G585V Missense 10/10 - 1
18-60052172-C-T c.1756C>T p.P586S Missense 10/10 - 1
18-60052173-C-T c.1757C>T p.P586L Missense 10/10 - 1
18-60052175-C-T c.1759C>T p.R587C Missense 10/10 - 4
18-60052180-C-T c.1764C>T p.F588= Synonymous 10/10 - 1
18-60052182-C-T c.1766C>T p.P589L Missense 10/10 - 1
18-60052184-G-A c.1768G>A p.D590N Missense 10/10 - 1
18-60052186-C-A c.1770C>A p.D590E Missense 10/10 - 1
18-60052190-T-G c.1774T>G p.C592G Missense 10/10 - 1
18-60052190-TG-GC c.1774_1775delinsGC p.C592A Missense 10/10 - 1
18-60052192-C-T c.1776C>T p.C592= Synonymous 10/10 - 1
18-60052194-G-C c.1778G>C p.G593A Missense 10/10 - 1
18-60052196-G-A c.1780G>A p.G594S Missense 10/10 - 2
18-60052201-C-T c.1785C>T p.P595= Synonymous 10/10 - 1
18-60052202-G-A c.1786G>A p.E596K Missense 10/10 - 3
18-60052205-G-A c.1789G>A p.G597R Missense 10/10 - 1
18-60052209-T-C c.1793T>C p.L598P Missense 10/10 - 1
18-60052212-G-A c.1796G>A p.R599Q Missense 10/10 - 1
18-60052218-C-A c.1802C>A p.P601Q Missense 10/10 - 1
18-60052220-G-C c.1804G>C p.E602Q Missense 10/10 - 1
18-60052221-A-G c.1805A>G p.E602G Missense 10/10 - 1
18-60052232-AGGCCGGTGCAGGAGCAAGGCG-A c.1819_1839del p.P607_G613del InFrameDeletion 10/10 - 1
18-60052236-C-T c.1820C>T p.P607L Missense 10/10 - 1
18-60052237-G-C c.1821G>C p.P607= Synonymous 10/10 - 1
18-60052238-G-A c.1822G>A p.V608M Missense 10/10 - 1
18-60052242-A-G c.1826A>G p.Q609R Missense 10/10 - 1
18-60052244-G-A c.1828G>A p.E610K Missense 10/10 - 1
18-60052251-G-A c.1835G>A p.G612D Missense 10/10 - 1
18-60052256-G-T c.1840G>T p.A614S Missense 10/10 - 1
18-60052263-C-T c.1847C>T p.A616V Missense 10/10 - 1
18-60052392-T-C c.*125T>C - 3-UTRSNV 10/10 - 1
18-60052393-C-T c.*126C>T - 3-UTRSNV 10/10 - 1
18-60054440-A-T c.*2173A>T - 3-UTRSNV 10/10 - 2
18-60054757-A-G c.*2490A>G - 3-UTRSNV 10/10 - 1
18-60054857-A-C c.*2590A>C - 3-UTRSNV 10/10 - 40
18-60054857-A-T c.*2590A>T - 3-UTRSNV 10/10 - 40
18-60056729-A-C c.*4462A>C - IntergenicSNV 10/10 - 1
18-60056729-A-G c.*4462A>G - IntergenicSNV 10/10 - 1
18-60057341-T-A c.*5074T>A - IntergenicSNV 10/10 - 1
18-60057341-T-G c.*5074T>G - IntergenicSNV 10/10 - 1