PIGL

PIGL phosphatidylinositol glycan anchor biosynthesis class L

Annotation transcript: NM_004278.4

299 unique variant annotations were identified in 182 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
17-16120541-A-G c.1A>G p.M1? Missense 1/7 - 2
17-16120544-G-A c.4G>A p.E2K Missense 1/7 - 4
17-16120546-A-C c.6A>C p.E2D Missense 1/7 - 1
17-16120547-G-A c.7G>A p.A3T Missense 1/7 - 1
17-16120550-A-G c.10A>G p.M4V Missense 1/7 - 1
17-16120556-C-T c.16C>T p.L6F Missense 1/7 - 1
17-16120559-C-A c.19C>A p.L7M Missense 1/7 - 2
17-16120559-C-G c.19C>G p.L7V Missense 1/7 - 1
17-16120559-C-T c.19C>T p.L7= Synonymous 1/7 - 2
17-16120563-G-A c.23G>A p.C8Y Missense 1/7 - 1
17-16120565-G-A c.25G>A p.V9M Missense 1/7 - 1
17-16120568-GC-AT c.28_29delinsAT p.A10M Missense 1/7 - 1
17-16120568-GCG-CAT c.28_30delinsCAT p.A10H Missense 1/7 - 1
17-16120568-GCG-TAT c.28_30delinsTAT p.A10Y Missense 1/7 - 1
17-16120568-GCG-TGT c.28_30delinsTGT p.A10C Missense 1/7 - 1
17-16120568-GCG-TTT c.28_30delinsTTT p.A10F Missense 1/7 - 1
17-16120569-C-A c.29C>A p.A10E Missense 1/7 - 1
17-16120569-C-G c.29C>G p.A10G Missense 1/7 - 2
17-16120569-C-T c.29C>T p.A10V Missense 1/7 - 1
17-16120577-G-A c.37G>A p.V13I Missense 1/7 - 1
17-16120575-CGGTCTTGGCATGG-C c.38_50del p.V13Afs*12 Frameshift 1/7 - 1
17-16120578-T-C c.38T>C p.V13A Missense 1/7 - 3
17-16120579-C-G c.39C>G p.V13= Synonymous 1/7 - 3
17-16120587-G-A c.47G>A p.W16* Nonsense 1/7 - 2
17-16120587-G-C c.47G>C p.W16S Missense 1/7 - 1
17-16120588-G-A c.48G>A p.W16* Nonsense 1/7 - 3
17-16120589-G-A c.49G>A p.G17S Missense 1/7 - 1
17-16120595-C-T c.55C>T p.L19F Missense 1/7 - 5
17-16120599-G-A c.59G>A p.W20* Nonsense 1/7 - 1
17-16120600-G-A c.60G>A p.W20* Nonsense 1/7 - 4
17-16120622-A-G c.82A>G p.M28V Missense 1/7 - 1
17-16120624-G-A c.84G>A p.M28I Missense 1/7 - 3
17-16120627-G-A c.87G>A p.K29= Synonymous 1/7 - 1
17-16120629-G-A c.89G>A p.S30N Missense 1/7 - 2
17-16120640-G-A c.100G>A p.G34R Missense 1/7 - 1
17-16120642-A-C c.102A>C p.G34= Synonymous 1/7 - 1
17-16120642-A-G c.102A>G p.G34= Synonymous 1/7 - 1
17-16120642-A-T c.102A>T p.G34= Synonymous 1/7 - 1
17-16120650-T-A c.110T>A p.L37Q Missense 1/7 - 2
17-16120649-C-T c.109C>T p.L37= Synonymous 1/7 - 1
17-16120651-G-A c.111G>A p.L37= Synonymous 1/7 - 1
17-16120651-G-C c.111G>C p.L37= Synonymous 1/7 - 1
17-16120651-G-T c.111G>T p.L37= Synonymous 1/7 - 1
17-16120652-G-A c.112G>A p.G38R Missense 1/7 - 1
17-16120652-G-C c.112G>C p.G38R Missense 1/7 - 1
17-16120658-G-A c.118G>A p.E40K Missense 1/7 - 4
17-16120670-CTG-ATC c.130_132delinsATC p.L44I Missense 1/7 - 1
17-16120681-A-C c.141A>C p.I47= Synonymous 1/7 - 1
17-16120682-G-C c.142G>C p.A48P Missense 1/7 - 3
17-16120684-G-A c.144G>A p.A48= Synonymous 1/7 - 1
17-16120684-G-C c.144G>C p.A48= Synonymous 1/7 - 1
17-16120684-G-T c.144G>T p.A48= Synonymous 1/7 - 1
17-16120686-A-C c.146A>C p.H49P Missense 1/7 - 1
17-16120688-C-T c.148C>T p.P50S Missense 1/7 - 1
17-16120689-C-G c.149C>G p.P50R Missense 1/7 - 1
17-16120700-G-A c.160G>A p.A54T Missense 1/7 - 2
17-16120701-C-A c.161C>A p.A54D Missense 1/7 - 2
17-16120701-C-T c.161C>T p.A54V Missense 1/7 - 2
17-16120703-A-C c.163A>C p.M55L Missense 1/7 - 1
17-16120703-A-T c.163A>T p.M55L Missense 1/7 - 1
17-16120709-T-A c.169T>A p.F57I Missense 1/7 - 1
17-16120710-T-C c.170T>C p.F57S Missense 1/7 - 1
17-16120713-C-T c.173C>T p.A58V Missense 1/7 - 1
17-16120714-T-A c.174T>A p.A58= Synonymous 1/7 - 1
17-16120714-T-C c.174T>C p.A58= Synonymous 1/7 - 1
17-16120714-T-G c.174T>G p.A58= Synonymous 1/7 - 1
17-16120719-C-T c.179C>T p.T60I Missense 1/7 - 1
17-16120725-T-C c.185T>C p.L62P Missense 1/7 - 1
17-16120731-T-C c.191T>C p.L64S Missense 1/7 - 1
17-16120734-C-T c.194C>T p.A65V Missense 1/7 - 1
17-16120751-G-C c.211G>C p.V71L Missense 1/7 - 1
17-16120751-G-T c.211G>T p.V71L Missense 1/7 - 1
17-16120753-G-A c.213G>A p.V71= Synonymous 1/7 - 2
17-16120753-G-C c.213G>C p.V71= Synonymous 1/7 - 2
17-16120753-G-T c.213G>T p.V71= Synonymous 1/7 - 2
17-16120757-C-A c.217C>A p.L73M Missense 1/7 - 1
17-16120770-C-A c.230C>A p.S77Y Missense 1/7 - 1
17-16120772-GCA-TTT c.232_234delinsTTT p.A78F Missense 1/7 - 1
17-16120772-G-T c.232G>T p.A78S Missense 1/7 - 1
17-16122380-T-TTTC c.235+1607_235+1608insCTT - IntronicInsertion - 1/6 1
17-16137285-G-C c.236G>C p.G79A Missense 2/7 - 1
17-16137287-A-G c.238A>G p.N80D Missense 2/7 - 1
17-16137292-C-A c.243C>A p.Y81* Nonsense 2/7 - 2
17-16137292-C-G c.243C>G p.Y81* Nonsense 2/7 - 1
17-16137299-C-T c.250C>T p.Q84* Nonsense 2/7 - 4
17-16137300-CAAG-C c.251_253del p.Q84_G85delinsR MultiAAMissense 2/7 - 2
17-16137302-GGA-G c.258_259del p.E86Dfs*3 Frameshift 2/7 - 1
17-16137309-C-T c.260C>T p.T87I Missense 2/7 - 1
17-16137311-C-G c.262C>G p.R88G Missense 2/7 - 1
17-16137311-CGT-TGG c.262_264delinsTGG p.R88W Missense 2/7 - 1
17-16137311-C-T c.262C>T p.R88C Missense 2/7 - 3
17-16137312-G-A c.263G>A p.R88H Missense 2/7 - 2
17-16137323-AC-A c.274del p.L92Ffs*15 Frameshift 2/7 - 2
17-16137323-C-G c.274C>G p.L92V Missense 2/7 - 1
17-16137324-T-C c.275T>C p.L92P Missense 2/7 - 1
17-16137326-T-C c.277T>C p.L93= Synonymous 2/7 - 1
17-16137328-G-A c.279G>A p.L93= Synonymous 2/7 - 1
17-16137338-G-T c.289G>T p.D97Y Missense 2/7 - 1
17-16137341-G-A c.292G>A p.V98I Missense 2/7 - 1
17-16137346-G-A c.297G>A p.L99= Synonymous 2/7 - 1
17-16137346-G-C c.297G>C p.L99F Missense 2/7 - 1
17-16137360-C-G c.311C>G p.S104C Missense 2/7 - 2
17-16137365-G-C c.316G>C p.V106L Missense 2/7 - 1
17-16137365-G-T c.316G>T p.V106L Missense 2/7 - 1
17-16137371-A-C c.322A>C p.I108L Missense 2/7 - 1
17-16137377-G-A c.328G>A p.D110N Missense 2/7 - 1
17-16137382-C-A c.333C>A p.N111K Missense 2/7 - 1
17-16137382-C-G c.333C>G p.N111K Missense 2/7 - 1
17-16137384-G-A c.335G>A p.R112K Missense 2/7 - 5
17-16137384-G-C c.335G>C p.R112T Missense 2/7 - 1
17-16137436-A-G c.335+52A>G - IntronicSNV - 2/6 1
17-16137436-A-T c.335+52A>T - IntronicSNV - 2/6 1
17-16140588-A-C c.335+3204A>C - IntronicSNV - 2/6 1
17-16140619-G-A c.335+3235G>A - IntronicSNV - 2/6 1
17-16142317-G-A c.335+4933G>A - IntronicSNV - 2/6 1
17-16142317-G-C c.335+4933G>C - IntronicSNV - 2/6 1
17-16147821-C-T c.335+10437C>T - IntronicSNV - 2/6 1
17-16148280-T-C c.335+10896T>C - IntronicSNV - 2/6 1
17-16149119-C-T c.335+11735C>T - IntronicSNV - 2/6 1
17-16149134-A-T c.335+11750A>T - IntronicSNV - 2/6 1
17-16158774-A-C c.335+21390A>C - IntronicSNV - 2/6 1
17-16160414-CA-C c.335+23038del - IntronicDeletion - 2/6 1
17-16162672-C-A c.335+25288C>A - IntronicSNV - 2/6 1
17-16163432-G-A c.335+26048G>A - IntronicSNV - 2/6 1
17-16166809-T-A c.335+29425T>A - IntronicSNV - 2/6 1
17-16166809-T-G c.335+29425T>G - IntronicSNV - 2/6 1
17-16166808-GT-G c.335+29433del - IntronicDeletion - 2/6 1
17-16175025-T-C c.336-28177T>C - IntronicSNV - 2/6 1
17-16184629-T-G c.336-18573T>G - IntronicSNV - 2/6 1
17-16185122-A-G c.336-18080A>G - IntronicSNV - 2/6 1
17-16185248-T-G c.336-17954T>G - IntronicSNV - 2/6 3
17-16185278-C-A c.336-17924C>A - IntronicSNV - 2/6 1
17-16186100-G-A c.336-17102G>A - IntronicSNV - 2/6 1
17-16196275-T-C c.336-6927T>C - IntronicSNV - 2/6 1
17-16203091-A-AC c.336-108dup - IntronicInsertion - 2/6 2
17-16137383-A-C c.334A>C p.R112= Synonymous 2/7 - 1
17-16203202-G-A c.336G>A p.R112= Synonymous 3/7 - 1
17-16203203-G-A c.337G>A p.D113N Missense 3/7 - 1
17-16203203-G-T c.337G>T p.D113Y Missense 3/7 - 2
17-16203205-ATTTCCCAG-A c.339_346del p.D113Efs*2 Frameshift 3/7 - 1
17-16203209-C-T c.343C>T p.P115S Missense 3/7 - 1
17-16203212-G-A c.346G>A p.D116N Missense 3/7 - 1
17-16203231-G-A c.365G>A p.W122* Nonsense 3/7 - 1
17-16203232-G-A c.366G>A p.W122* Nonsense 3/7 - 1
17-16203238-A-AT c.372_373insT p.E125* Nonsense 3/7 - 1
17-16203239-G-C c.373G>C p.E125Q Missense 3/7 - 1
17-16203243-A-G c.377A>G p.H126R Missense 3/7 - 1
17-16203244-C-T c.378C>T p.H126= Synonymous 3/7 - 1
17-16203245-G-A c.379G>A p.V127M Missense 3/7 - 4
17-16203248-G-A c.382G>A p.A128T Missense 3/7 - 2
17-16203251-A-G c.385A>G p.R129G Missense 3/7 - 4
17-16203255-T-C c.389T>C p.V130A Missense 3/7 - 1
17-16203255-T-G c.389T>G p.V130G Missense 3/7 - 4
17-16203257-C-A c.391C>A p.L131I Missense 3/7 - 1
17-16203257-C-G c.391C>G p.L131V Missense 3/7 - 1
17-16203263-C-T c.397C>T p.Q133* Nonsense 3/7 - 1
17-16203269-A-G c.403A>G p.I135V Missense 3/7 - 1
17-16203288-A-G c.422A>G p.N141S Missense 3/7 - 1
17-16203289-AT-A c.423del p.L142Wfs*3 Frameshift 3/7 - 1
17-16203290-C-A c.424C>A p.L142M Missense 3/7 - 7
17-16203297-G-A c.426+5G>A - IntronicSNV - 3/6 1
17-16210944-G-A c.427-5917G>A - IntronicSNV - 3/6 1
17-16216861-G-A c.427G>A p.V143M Missense 4/7 - 1
17-16216870-T-C c.436T>C p.F146L Missense 4/7 - 1
17-16216872-C-A c.438C>A p.F146L Missense 4/7 - 1
17-16216872-C-G c.438C>G p.F146L Missense 4/7 - 1
17-16216880-G-C c.446G>C p.G149A Missense 4/7 - 1
17-16216878-AG-A c.449del p.G150Efs*2 Frameshift 4/7 - 1
17-16216883-G-T c.449G>T p.G150V Missense 4/7 - 1
17-16216884-A-G c.450A>G p.G150= Synonymous 4/7 - 1
17-16216892-G-A c.458G>A p.G153D Missense 4/7 - 1
17-16216893-C-A c.459C>A p.G153= Synonymous 4/7 - 1
17-16216893-C-G c.459C>G p.G153= Synonymous 4/7 - 1
17-16216893-C-T c.459C>T p.G153= Synonymous 4/7 - 1
17-16216896-C-A c.462C>A p.H154Q Missense 4/7 - 1
17-16216896-C-G c.462C>G p.H154Q Missense 4/7 - 1
17-16216898-G-A c.464G>A p.S155N Missense 4/7 - 1
17-16216901-A-G c.467A>G p.N156S Missense 4/7 - 1
17-16216906-A-T c.472A>T p.I158F Missense 4/7 - 1
17-16216921-G-A c.487G>A p.A163T Missense 4/7 - 1
17-16216922-C-T c.488C>T p.A163V Missense 4/7 - 1
17-16216926-G-A c.492G>A p.V164= Synonymous 4/7 - 1
17-16216926-G-C c.492G>C p.V164= Synonymous 4/7 - 1
17-16216926-G-T c.492G>T p.V164= Synonymous 4/7 - 1
17-16216988-G-C c.494+60G>C - IntronicSNV - 4/6 4
17-16216988-G-T c.494+60G>T - IntronicSNV - 4/6 3
17-16218155-G-T c.494+1227G>T - IntronicSNV - 4/6 1
17-16218686-C-A c.495-1309C>A - IntronicSNV - 4/6 1
17-16218686-C-G c.495-1309C>G - IntronicSNV - 4/6 1
17-16219792-C-T c.495-203C>T - IntronicSNV - 4/6 2
17-16219996-G-A c.496G>A p.A166T Missense 5/7 - 3
17-16219997-C-A c.497C>A p.A166D Missense 5/7 - 1
17-16219997-C-T c.497C>T p.A166V Missense 5/7 - 1
17-16220000-T-C c.500T>C p.L167P Missense 5/7 - 15
17-16220003-A-G c.503A>G p.H168R Missense 5/7 - 1
17-16220006-C-T c.506C>T p.S169L Missense 5/7 - 1
17-16220021-C-T c.521C>T p.P174L Missense 5/7 - 4
17-16220024-A-C c.524A>C p.K175T Missense 5/7 - 2
17-16220026-G-A c.526G>A p.G176R Missense 5/7 - 3
17-16220026-G-C c.526G>C p.G176R Missense 5/7 - 1
17-16220036-G-A c.526+10G>A - IntronicSNV - 5/6 1
17-16220036-G-C c.526+10G>C - IntronicSNV - 5/6 1
17-16220083-T-C c.526+57T>C - IntronicSNV - 5/6 1
17-16220110-G-C c.526+84G>C - IntronicSNV - 5/6 1
17-16221096-T-A c.534T>A p.S178= Synonymous 6/7 - 2
17-16221096-T-C c.534T>C p.S178= Synonymous 6/7 - 2
17-16221096-T-G c.534T>G p.S178= Synonymous 6/7 - 2
17-16221099-G-A c.537G>A p.V179= Synonymous 6/7 - 1
17-16221102-C-T c.540C>T p.L180= Synonymous 6/7 - 1
17-16221104-C-T c.542C>T p.T181M Missense 6/7 - 1
17-16221109-C-T c.547C>T p.Q183* Nonsense 6/7 - 4
17-16221115-G-A c.553G>A p.V185M Missense 6/7 - 1
17-16221115-G-C c.553G>C p.V185L Missense 6/7 - 1
17-16221120-T-C c.558T>C p.N186= Synonymous 6/7 - 1
17-16221124-C-T c.562C>T p.L188= Synonymous 6/7 - 1
17-16221126-G-A c.564G>A p.L188= Synonymous 6/7 - 1
17-16221126-G-C c.564G>C p.L188= Synonymous 6/7 - 1
17-16221126-G-T c.564G>T p.L188= Synonymous 6/7 - 1
17-16221127-C-G c.565C>G p.R189G Missense 6/7 - 2
17-16221128-CGCA-C c.566_568del p.R189_K190delinsQ MultiAAMissense 6/7 - 1
17-16221128-G-A c.566G>A p.R189H Missense 6/7 - 2
17-16221129-C-A c.567C>A p.R189= Synonymous 6/7 - 1
17-16221135-C-T c.573C>T p.Y191= Synonymous 6/7 - 1
17-16221137-T-A c.575T>A p.I192N Missense 6/7 - 1
17-16221148-G-T c.586G>T p.D196Y Missense 6/7 - 1
17-16221149-A-G c.587A>G p.D196G Missense 6/7 - 1
17-16221151-C-T c.589C>T p.L197= Synonymous 6/7 - 1
17-16221154-C-T c.592C>T p.P198S Missense 6/7 - 2
17-16221155-C-T c.593C>T p.P198L Missense 6/7 - 2
17-16221169-C-A c.607C>A p.H203N Missense 6/7 - 2
17-16221169-CATACGCAGGATGTCCTCTTCGTGCTCAACAGCAAAG-C c.609_644del p.H203_E215delinsQ MultiAAMissense 6/7 - 1
17-16221172-A-G c.610A>G p.T204A Missense 6/7 - 1
17-16221172-A-T c.610A>T p.T204S Missense 6/7 - 1
17-16221173-C-A c.611C>A p.T204K Missense 6/7 - 1
17-16221183-C-A c.621C>A p.V207= Synonymous 6/7 - 1
17-16221183-C-G c.621C>G p.V207= Synonymous 6/7 - 1
17-16221183-C-T c.621C>T p.V207= Synonymous 6/7 - 2
17-16221189-C-T c.627C>T p.F209= Synonymous 6/7 - 4
17-16221190-G-A c.628G>A p.V210M Missense 6/7 - 3
17-16221190-G-C c.628G>C p.V210L Missense 6/7 - 1
17-16221191-T-C c.629T>C p.V210A Missense 6/7 - 1
17-16221195-C-A c.633C>A p.L211= Synonymous 6/7 - 2
17-16221195-C-G c.633C>G p.L211= Synonymous 6/7 - 2
17-16221195-C-T c.633C>T p.L211= Synonymous 6/7 - 3
17-16221196-A-G c.634A>G p.N212D Missense 6/7 - 1
17-16221198-C-A c.636C>A p.N212K Missense 6/7 - 2
17-16221204-A-G c.642A>G p.K214= Synonymous 6/7 - 1
17-16221205-G-C c.643G>C p.E215Q Missense 6/7 - 3
17-16221211-G-A c.649G>A p.A217T Missense 6/7 - 1
17-16221212-C-T c.650C>T p.A217V Missense 6/7 - 2
17-16221214-C-G c.652C>G p.Q218E Missense 6/7 - 2
17-16221214-C-T c.652C>T p.Q218* Nonsense 6/7 - 7
17-16221220-A-C c.658A>C p.K220Q Missense 6/7 - 3
17-16221222-G-T c.660G>T p.K220N Missense 6/7 - 2
17-16221271-A-ACC c.660+52_660+53dup - IntronicInsertion - 6/6 6
17-16221271-A-AC c.660+53dup - IntronicInsertion - 6/6 7
17-16221319-T-C c.660+97T>C - IntronicSNV - 6/6 4
17-16229117-G-A c.664G>A p.A222T Missense 7/7 - 3
17-16229117-G-T c.664G>T p.A222S Missense 7/7 - 1
17-16229122-G-A c.669G>A p.M223I Missense 7/7 - 1
17-16229125-C-T c.672C>T p.S224= Synonymous 7/7 - 1
17-16229129-C-T c.676C>T p.H226Y Missense 7/7 - 1
17-16229130-A-G c.677A>G p.H226R Missense 7/7 - 1
17-16229132-C-T c.679C>T p.R227C Missense 7/7 - 3
17-16229133-G-A c.680G>A p.R227H Missense 7/7 - 3
17-16229133-G-T c.680G>T p.R227L Missense 7/7 - 2
17-16229135-AG-CT c.682_683inv p.S228L Missense 7/7 - 1
17-16229141-C-G c.688C>G p.L230V Missense 7/7 - 1
17-16229143-C-T c.690C>T p.L230= Synonymous 7/7 - 1
17-16229144-C-G c.691C>G p.L231V Missense 7/7 - 1
17-16229147-T-C c.694T>C p.W232R Missense 7/7 - 1
17-16229149-G-C c.696G>C p.W232C Missense 7/7 - 1
17-16229149-G-T c.696G>T p.W232C Missense 7/7 - 1
17-16229153-C-T c.700C>T p.R234C Missense 7/7 - 1
17-16229154-G-A c.701G>A p.R234H Missense 7/7 - 1
17-16229154-G-T c.701G>T p.R234L Missense 7/7 - 1
17-16229156-C-G c.703C>G p.R235G Missense 7/7 - 1
17-16229156-C-T c.703C>T p.R235C Missense 7/7 - 1
17-16229157-G-A c.704G>A p.R235H Missense 7/7 - 2
17-16229160-T-C c.707T>C p.L236P Missense 7/7 - 1
17-16229165-A-C c.712A>C p.I238L Missense 7/7 - 1
17-16229165-A-G c.712A>G p.I238V Missense 7/7 - 1
17-16229169-T-A c.716T>A p.I239N Missense 7/7 - 3
17-16229170-C-T c.717C>T p.I239= Synonymous 7/7 - 1
17-16229177-C-T c.724C>T p.R242W Missense 7/7 - 3
17-16229178-G-A c.725G>A p.R242Q Missense 7/7 - 3
17-16229178-G-C c.725G>C p.R242P Missense 7/7 - 1
17-16229180-T-A c.727T>A p.Y243N Missense 7/7 - 1
17-16229182-C-T c.729C>T p.Y243= Synonymous 7/7 - 1
17-16229183-A-C c.730A>C p.M244L Missense 7/7 - 1
17-16229183-A-T c.730A>T p.M244L Missense 7/7 - 1
17-16229185-G-A c.732G>A p.M244I Missense 7/7 - 1
17-16229185-G-C c.732G>C p.M244I Missense 7/7 - 1
17-16229185-G-T c.732G>T p.M244I Missense 7/7 - 1
17-16229187-G-A c.734G>A p.R245K Missense 7/7 - 1
17-16229194-C-A c.741C>A p.N247K Missense 7/7 - 1
17-16229232-A-G c.*20A>G - 3-UTRSNV 7/7 - 13
17-16229298-A-G c.*86A>G - 3-UTRSNV 7/7 - 5
17-16229466-T-C c.*254T>C - 3-UTRSNV 7/7 - 1