ATRIP

ATRIP ATR interacting protein

Annotation transcript: NM_130384.3

546 unique variant annotations were identified in 304 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
3-48488149-C-G c.-101C>G - 5-UTRSNV 1/13 - 1
3-48488149-C-T c.-101C>T - 5-UTRSNV 1/13 - 1
3-48488181-C-G c.-69C>G - 5-UTRSNV 1/13 - 2
3-48488181-C-T c.-69C>T - 5-UTRSNV 1/13 - 2
3-48488192-G-A c.-58G>A - 5-UTRSNV 1/13 - 2
3-48488192-G-C c.-58G>C - 5-UTRSNV 1/13 - 2
3-48488192-G-T c.-58G>T - 5-UTRSNV 1/13 - 2
3-48488252-G-T c.3G>T p.M1? Missense 1/13 - 1
3-48488257-G-T c.8G>T p.G3V Missense 1/13 - 2
3-48488259-A-G c.10A>G p.T4A Missense 1/13 - 1
3-48488272-G-A c.23G>A p.G8D Missense 1/13 - 1
3-48488275-G-A c.26G>A p.S9N Missense 1/13 - 1
3-48488277-A-C c.28A>C p.K10Q Missense 1/13 - 1
3-48488278-A-G c.29A>G p.K10R Missense 1/13 - 1
3-48488281-G-C c.32G>C p.R11T Missense 1/13 - 1
3-48488285-G-A c.36G>A p.R12= Synonymous 1/13 - 1
3-48488286-AG-GC c.37_38delinsGC p.S13A Missense 1/13 - 2
3-48488290-A-G c.41A>G p.E14G Missense 1/13 - 1
3-48488292-CC-TA c.43_44delinsTA p.P15Y Missense 1/13 - 1
3-48488292-C-T c.43C>T p.P15S Missense 1/13 - 2
3-48488296-C-T c.47C>T p.P16L Missense 1/13 - 1
3-48488298-G-A c.49G>A p.A17T Missense 1/13 - 3
3-48488298-GC-CA c.49_50delinsCA p.A17Q Missense 1/13 - 2
3-48488298-GC-CT c.49_50delinsCT p.A17L Missense 1/13 - 3
3-48488298-GCG-AAC c.49_51delinsAAC p.A17N Missense 1/13 - 1
3-48488298-GCG-CAT c.49_51delinsCAT p.A17H Missense 1/13 - 1
3-48488298-GCG-TGT c.49_51delinsTGT p.A17C Missense 1/13 - 1
3-48488298-GC-TA c.49_50delinsTA p.A17* Nonsense 1/13 - 1
3-48488298-G-T c.49G>T p.A17S Missense 1/13 - 1
3-48488304-C-T c.55C>T p.R19C Missense 1/13 - 1
3-48488305-G-T c.56G>T p.R19L Missense 1/13 - 1
3-48488307-C-T c.58C>T p.P20S Missense 1/13 - 1
3-48488310-G-C c.61G>C p.G21R Missense 1/13 - 1
3-48488324-GCACC-G c.75_78del p.T26Gfs*45 Frameshift 1/13 - 1
3-48488327-C-A c.78C>A p.T26= Synonymous 1/13 - 1
3-48488327-C-G c.78C>G p.T26= Synonymous 1/13 - 1
3-48488327-C-T c.78C>T p.T26= Synonymous 1/13 - 1
3-48488331-C-T c.82C>T p.H28Y Missense 1/13 - 1
3-48488332-A-G c.83A>G p.H28R Missense 1/13 - 1
3-48488333-C-G c.84C>G p.H28Q Missense 1/13 - 1
3-48488335-C-CGGTG c.86_87insGGTG p.P30Vfs*18 Frameshift 1/13 - 1
3-48488339-G-A c.90G>A p.P30= Synonymous 1/13 - 1
3-48488339-G-C c.90G>C p.P30= Synonymous 1/13 - 1
3-48488339-G-GT c.90_91insT p.S31* Nonsense 1/13 - 1
3-48488339-G-T c.90G>T p.P30= Synonymous 1/13 - 1
3-48488340-GA-G c.91del p.S31Afs*41 Frameshift 1/13 - 1
3-48488343-A-C c.94A>C p.K32Q Missense 1/13 - 1
3-48488342-CA-C c.95del p.K32Sfs*40 Frameshift 1/13 - 1
3-48488344-A-G c.95A>G p.K32R Missense 1/13 - 1
3-48488356-G-C c.107G>C p.G36A Missense 1/13 - 1
3-48488357-CT-C c.110del p.F37Sfs*35 Frameshift 1/13 - 1
3-48488360-C-T c.111C>T p.F37= Synonymous 1/13 - 1
3-48488362-C-G c.113C>G p.S38C Missense 1/13 - 1
3-48488365-C-A c.116C>A p.A39E Missense 1/13 - 1
3-48488365-C-T c.116C>T p.A39V Missense 1/13 - 1
3-48488370-G-C c.121G>C p.A41P Missense 1/13 - 1
3-48488372-T-A c.123T>A p.A41= Synonymous 1/13 - 1
3-48488372-T-C c.123T>C p.A41= Synonymous 1/13 - 1
3-48488372-T-G c.123T>G p.A41= Synonymous 1/13 - 1
3-48488373-G-A c.124G>A p.A42T Missense 1/13 - 1
3-48488373-GC-TA c.124_125delinsTA p.A42Y Missense 1/13 - 2
3-48488377-CG-AT c.128_129delinsAT p.P43H Missense 1/13 - 1
3-48488380-A-C c.131A>C p.D44A Missense 1/13 - 1
3-48488383-C-A c.134C>A p.P45H Missense 1/13 - 1
3-48488386-A-T c.137A>T p.D46V Missense 1/13 - 1
3-48488400-G-A c.151G>A p.A51T Missense 1/13 - 1
3-48488409-G-T c.160G>T p.D54Y Missense 1/13 - 1
3-48488411-C-T c.162C>T p.D54= Synonymous 1/13 - 1
3-48488418-G-T c.169G>T p.A57S Missense 1/13 - 1
3-48488420-C-T c.171C>T p.A57= Synonymous 1/13 - 1
3-48488421-G-A c.172G>A p.D58N Missense 1/13 - 1
3-48488421-GAC-AAG c.172_174delinsAAG p.D58K Missense 1/13 - 2
3-48488424-G-T c.175G>T p.D59Y Missense 1/13 - 1
3-48488427-C-G c.178C>G p.L60V Missense 1/13 - 1
3-48488443-C-T c.194C>T p.T65I Missense 1/13 - 1
3-48488451-T-G c.202T>G p.S68A Missense 1/13 - 1
3-48488452-C-A c.203C>A p.S68* Nonsense 1/13 - 1
3-48488454-C-G c.205C>G p.Q69E Missense 1/13 - 1
3-48488458-C-G c.209C>G p.A70G Missense 1/13 - 1
3-48488475-G-A c.226G>A p.A76T Missense 1/13 - 1
3-48488478-GC-TA c.229_230delinsTA p.A77* Nonsense 1/13 - 1
3-48488478-G-T c.229G>T p.A77S Missense 1/13 - 1
3-48488479-C-G c.230C>G p.A77G Missense 1/13 - 1
3-48488481-G-A c.232G>A p.A78T Missense 1/13 - 1
3-48488484-C-T c.235C>T p.R79W Missense 1/13 - 1
3-48488485-GG-AT c.236_237delinsAT p.R79H Missense 1/13 - 1
3-48488491-T-A c.242T>A p.V81E Missense 1/13 - 1
3-48488496-A-C c.247A>C p.S83R Missense 1/13 - 1
3-48488538-A-C c.247+42A>C - IntronicSNV - 1/12 1
3-48488538-A-G c.247+42A>G - IntronicSNV - 1/12 1
3-48488591-G-A c.247+95G>A - IntronicSNV - 1/12 1
3-48489398-A-G c.247+902A>G - IntronicSNV - 1/12 3
3-48491350-G-A c.248-93G>A - IntronicSNV - 1/12 1
3-48491394-A-G c.248-49A>G - IntronicSNV - 1/12 2
3-48491425-T-A c.248-18T>A - IntronicSNV - 1/12 1
3-48491443-G-T c.248G>T p.S83I Missense 2/13 - 1
3-48491449-A-G c.254A>G p.H85R Missense 2/13 - 1
3-48491450-T-A c.255T>A p.H85Q Missense 2/13 - 1
3-48491450-T-G c.255T>G p.H85Q Missense 2/13 - 1
3-48491455-T-C c.260T>C p.V87A Missense 2/13 - 1
3-48491460-A-T c.265A>T p.R89* Nonsense 2/13 - 1
3-48491462-AT-A c.269del p.L90Yfs*2 Frameshift 2/13 - 1
3-48491469-G-T c.274G>T p.D92Y Missense 2/13 - 5
3-48491472-G-A c.277G>A p.G93S Missense 2/13 - 1
3-48491477-G-A c.282G>A p.M94I Missense 2/13 - 1
3-48491477-G-C c.282G>C p.M94I Missense 2/13 - 1
3-48491477-G-T c.282G>T p.M94I Missense 2/13 - 1
3-48491481-A-C c.286A>C p.K96Q Missense 2/13 - 1
3-48491482-A-G c.287A>G p.K96R Missense 2/13 - 1
3-48491483-A-G c.288A>G p.K96= Synonymous 2/13 - 1
3-48491487-C-T c.292C>T p.P98S Missense 2/13 - 1
3-48491488-C-A c.293C>A p.P98H Missense 2/13 - 2
3-48491491-C-T c.296C>T p.S99L Missense 2/13 - 1
3-48491496-A-C c.301A>C p.K101Q Missense 2/13 - 1
3-48491497-A-G c.302A>G p.K101R Missense 2/13 - 1
3-48491502-AG-CA c.307_308delinsCA p.R103Q Missense 2/13 - 1
3-48491529-TT-GG c.334_335delinsGG p.F112G Missense 2/13 - 1
3-48491531-C-T c.336C>T p.F112= Synonymous 2/13 - 3
3-48491532-G-A c.337G>A p.E113K Missense 2/13 - 2
3-48491541-G-C c.346G>C p.V116L Missense 2/13 - 2
3-48491541-G-T c.346G>T p.V116L Missense 2/13 - 3
3-48491548-A-G c.353A>G p.Q118R Missense 2/13 - 1
3-48491562-G-C c.367G>C p.E123Q Missense 2/13 - 1
3-48491562-G-T c.367G>T p.E123* Nonsense 2/13 - 1
3-48491566-T-A c.371T>A p.L124H Missense 2/13 - 1
3-48491568-A-C c.373A>C p.K125Q Missense 2/13 - 4
3-48491569-A-G c.374A>G p.K125R Missense 2/13 - 1
3-48491995-ATT-A c.381+438_381+439del - IntronicDeletion - 2/12 1
3-48491995-A-AT c.381+439dup - IntronicInsertion - 2/12 1
3-48493147-GA-AG c.394_395delinsAG p.E132R Missense 3/13 - 1
3-48493154-A-C c.401A>C p.E134A Missense 3/13 - 1
3-48493159-C-A c.406C>A p.L136I Missense 3/13 - 1
3-48493160-T-A c.407T>A p.L136H Missense 3/13 - 1
3-48493171-G-A c.418G>A p.G140R Missense 3/13 - 1
3-48493174-G-C c.421G>C p.E141Q Missense 3/13 - 2
3-48493178-T-C c.425T>C p.I142T Missense 3/13 - 1
3-48493190-G-A c.437G>A p.R146Q Missense 3/13 - 1
3-48493190-GA-AT c.437_438delinsAT p.R146H Missense 3/13 - 1
3-48493190-G-T c.437G>T p.R146L Missense 3/13 - 2
3-48493192-G-C c.439G>C p.D147H Missense 3/13 - 4
3-48493201-C-T c.448C>T p.H150Y Missense 3/13 - 2
3-48493203-T-A c.450T>A p.H150Q Missense 3/13 - 1
3-48493203-T-G c.450T>G p.H150Q Missense 3/13 - 1
3-48493208-C-T c.455C>T p.T152M Missense 3/13 - 2
3-48493210-G-A c.457G>A p.E153K Missense 3/13 - 1
3-48493214-C-T c.461C>T p.S154F Missense 3/13 - 2
3-48493215-C-A c.462C>A p.S154= Synonymous 3/13 - 1
3-48493215-C-G c.462C>G p.S154= Synonymous 3/13 - 1
3-48493215-C-T c.462C>T p.S154= Synonymous 3/13 - 1
3-48493216-G-A c.463G>A p.V155I Missense 3/13 - 2
3-48493216-G-C c.463G>C p.V155L Missense 3/13 - 1
3-48493216-G-T c.463G>T p.V155F Missense 3/13 - 1
3-48493222-G-C c.469G>C p.E157Q Missense 3/13 - 2
3-48493232-G-A c.479G>A p.R160K Missense 3/13 - 1
3-48493235-G-A c.482G>A p.R161K Missense 3/13 - 4
3-48493252-G-A c.499G>A p.E167K Missense 3/13 - 1
3-48493252-G-T c.499G>T p.E167* Nonsense 3/13 - 1
3-48493256-A-C c.503A>C p.Q168P Missense 3/13 - 1
3-48493262-A-G c.509A>G p.K170R Missense 3/13 - 1
3-48493265-C-T c.512C>T p.T171I Missense 3/13 - 3
3-48493268-A-G c.515A>G p.Q172R Missense 3/13 - 1
3-48493276-A-G c.523A>G p.S175G Missense 3/13 - 1
3-48493282-AA-GC c.529_530delinsGC p.K177A Missense 3/13 - 1
3-48493284-G-A c.531G>A p.K177= Synonymous 3/13 - 1
3-48493285-GGA-G c.532_533del p.E178Kfs*13 Frameshift 3/13 - 1
3-48493296-C-A c.543C>A p.F181L Missense 3/13 - 1
3-48493304-A-G c.551A>G p.K184R Missense 3/13 - 1
3-48494542-C-T c.553-1158C>T - IntronicSNV - 3/12 1
3-48495700-C-T c.553C>T p.L185F Missense 4/13 - 2
3-48495703-C-T c.556C>T p.Q186* Nonsense 4/13 - 1
3-48495709-T-G c.562T>G p.L188V Missense 4/13 - 1
3-48495733-G-A c.586G>A p.D196N Missense 4/13 - 2
3-48495739-G-C c.592G>C p.E198Q Missense 4/13 - 1
3-48495748-G-A c.601G>A p.E201K Missense 4/13 - 1
3-48495754-AGG-CAT c.607_609delinsCAT p.R203H Missense 4/13 - 1
3-48495770-C-T c.623C>T p.T208I Missense 4/13 - 2
3-48495777-A-G c.630A>G p.E210= Synonymous 4/13 - 1
3-48495779-G-A c.632G>A p.R211Q Missense 4/13 - 1
3-48495781-AGC-A c.634_635del p.A212Kfs*2 Frameshift 4/13 - 1
3-48495789-A-T c.642A>T p.K214N Missense 4/13 - 1
3-48495799-C-T c.652C>T p.P218S Missense 4/13 - 3
3-48495802-TC-CT c.655_656delinsCT p.S219L Missense 4/13 - 1
3-48495811-C-T c.664C>T p.H222Y Missense 4/13 - 2
3-48495817-AG-GC c.670_671delinsGC p.S224A Missense 4/13 - 2
3-48495828-G-A c.671+10G>A - IntronicSNV - 4/12 1
3-48496758-G-A c.671+940G>A - IntronicSNV - 4/12 3
3-48496758-G-T c.671+940G>T - IntronicSNV - 4/12 3
3-48497066-AT-A c.671+1258del - IntronicDeletion - 4/12 1
3-48498456-A-T c.672-203A>T - IntronicSNV - 4/12 2
3-48498659-T-C c.672T>C p.S224= Synonymous 5/13 - 1
3-48498661-C-T c.674C>T p.P225L Missense 5/13 - 1
3-48498666-AA-GC c.679_680delinsGC p.K227A Missense 5/13 - 7
3-48498670-A-G c.683A>G p.N228S Missense 5/13 - 1
3-48498675-T-A c.688T>A p.S230T Missense 5/13 - 1
3-48498683-T-C c.696T>C p.V232= Synonymous 5/13 - 1
3-48498688-A-G c.701A>G p.K234R Missense 5/13 - 1
3-48498691-C-T c.704C>T p.P235L Missense 5/13 - 1
3-48498706-C-T c.719C>T p.P240L Missense 5/13 - 3
3-48498711-T-C c.724T>C p.F242L Missense 5/13 - 1
3-48498713-T-A c.726T>A p.F242L Missense 5/13 - 1
3-48498713-T-G c.726T>G p.F242L Missense 5/13 - 1
3-48498715-G-A c.728G>A p.G243E Missense 5/13 - 2
3-48498721-C-G c.734C>G p.T245R Missense 5/13 - 1
3-48498724-C-A c.737C>A p.S246Y Missense 5/13 - 1
3-48498742-C-A c.755C>A p.S252Y Missense 5/13 - 1
3-48498753-A-G c.766A>G p.N256D Missense 5/13 - 1
3-48498755-C-G c.768C>G p.N256K Missense 5/13 - 1
3-48498757-T-C c.770T>C p.M257T Missense 5/13 - 1
3-48498762-C-A c.775C>A p.L259I Missense 5/13 - 2
3-48498769-A-C c.782A>C p.H261P Missense 5/13 - 3
3-48498771-C-T c.784C>T p.P262S Missense 5/13 - 3
3-48498774-T-A c.787T>A p.C263S Missense 5/13 - 1
3-48498774-T-C c.787T>C p.C263R Missense 5/13 - 1
3-48498775-G-C c.788G>C p.C263S Missense 5/13 - 1
3-48498781-C-T c.794C>T p.T265M Missense 5/13 - 2
3-48498807-GG-TA c.820_821delinsTA p.G274Y Missense 5/13 - 1
3-48498813-G-A c.826G>A p.E276K Missense 5/13 - 1
3-48500286-G-A c.830-472G>A - IntronicSNV - 5/12 3
3-48500760-AG-GC c.832_833delinsGC p.S278A Missense 6/13 - 1
3-48500762-T-C c.834T>C p.S278= Synonymous 6/13 - 1
3-48500764-A-G c.836A>G p.K279R Missense 6/13 - 1
3-48500766-C-G c.838C>G p.P280A Missense 6/13 - 1
3-48500779-G-A c.851G>A p.R284K Missense 6/13 - 1
3-48500794-A-G c.866A>G p.K289R Missense 6/13 - 1
3-48500796-C-T c.868C>T p.Q290* Nonsense 6/13 - 2
3-48500816-C-T c.888C>T p.S296= Synonymous 6/13 - 1
3-48500817-T-G c.889T>G p.F297V Missense 6/13 - 1
3-48500819-T-C c.891T>C p.F297= Synonymous 6/13 - 3
3-48500820-G-A c.892G>A p.V298I Missense 6/13 - 1
3-48500825-C-T c.897C>T p.D299= Synonymous 6/13 - 1
3-48500832-AG-CA c.904_905delinsCA p.R302Q Missense 6/13 - 1
3-48500834-A-C c.906A>C p.R302S Missense 6/13 - 1
3-48500834-A-T c.906A>T p.R302S Missense 6/13 - 1
3-48500840-A-C c.912A>C p.R304S Missense 6/13 - 1
3-48500841-ATC-A c.913_914del p.S305Kfs*30 Frameshift 6/13 - 1
3-48500842-C-G c.914C>G p.S305* Nonsense 6/13 - 1
3-48500841-TCAAA-T c.916_919del p.N306Lfs*6 Frameshift 6/13 - 1
3-48500849-T-A c.921T>A p.T307= Synonymous 6/13 - 1
3-48500849-T-C c.921T>C p.T307= Synonymous 6/13 - 1
3-48500849-T-G c.921T>G p.T307= Synonymous 6/13 - 1
3-48500850-C-A c.922C>A p.Q308K Missense 6/13 - 1
3-48500850-CA-GC c.922_923delinsGC p.Q308A Missense 6/13 - 1
3-48500850-C-T c.922C>T p.Q308* Nonsense 6/13 - 2
3-48500853-G-A c.925G>A p.G309S Missense 6/13 - 1
3-48501135-C-G c.926-51C>G - IntronicSNV - 6/12 1
3-48501135-C-T c.926-51C>T - IntronicSNV - 6/12 1
3-48501189-C-T c.929C>T p.S310F Missense 7/13 - 4
3-48501204-T-C c.944T>C p.L315P Missense 7/13 - 1
3-48501206-C-T c.946C>T p.L316F Missense 7/13 - 1
3-48501207-T-G c.947T>G p.L316R Missense 7/13 - 1
3-48501226-C-T c.966C>T p.I322= Synonymous 7/13 - 1
3-48501228-C-T c.968C>T p.P323L Missense 7/13 - 1
3-48501230-G-A c.970G>A p.G324R Missense 7/13 - 1
3-48501231-G-A c.971G>A p.G324E Missense 7/13 - 1
3-48501234-C-T c.974C>T p.S325L Missense 7/13 - 2
3-48501237-C-G c.977C>G p.S326C Missense 7/13 - 1
3-48501245-C-T c.985C>T p.L329F Missense 7/13 - 1
3-48501249-G-C c.989G>C p.C330S Missense 7/13 - 1
3-48501258-T-A c.998T>A p.L333Q Missense 7/13 - 1
3-48501272-G-T c.1012G>T p.E338* Nonsense 7/13 - 3
3-48501274-G-A c.1014G>A p.E338= Synonymous 7/13 - 1
3-48501278-C-T c.1018C>T p.P340S Missense 7/13 - 1
3-48501279-C-T c.1019C>T p.P340L Missense 7/13 - 2
3-48501285-G-T c.1025G>T p.G342V Missense 7/13 - 1
3-48501287-A-C c.1027A>C p.T343P Missense 7/13 - 1
3-48501290-C-G c.1030C>G p.P344A Missense 7/13 - 1
3-48501287-ACC-A c.1032_1033del p.L345Afs*22 Frameshift 7/13 - 2
3-48501292-C-T c.1032C>T p.P344= Synonymous 7/13 - 1
3-48501287-AC-A c.1033del p.L345Cfs*31 Frameshift 7/13 - 5
3-48501302-C-T c.1042C>T p.P348S Missense 7/13 - 1
3-48501311-G-C c.1051G>C p.G351R Missense 7/13 - 1
3-48501519-G-A c.1066G>A p.G356R Missense 8/13 - 2
3-48501519-G-C c.1066G>C p.G356R Missense 8/13 - 1
3-48501529-G-A c.1076G>A p.G359D Missense 8/13 - 1
3-48501530-C-T c.1077C>T p.G359= Synonymous 8/13 - 2
3-48501534-A-G c.1081A>G p.R361G Missense 8/13 - 1
3-48501534-A-T c.1081A>T p.R361W Missense 8/13 - 1
3-48501555-G-C c.1102G>C p.G368R Missense 8/13 - 1
3-48501563-T-C c.1110T>C p.F370= Synonymous 8/13 - 1
3-48501565-C-T c.1112C>T p.S371F Missense 8/13 - 4
3-48501566-C-A c.1113C>A p.S371= Synonymous 8/13 - 1
3-48501566-C-G c.1113C>G p.S371= Synonymous 8/13 - 1
3-48501566-C-T c.1113C>T p.S371= Synonymous 8/13 - 1
3-48501570-T-C c.1117T>C p.S373P Missense 8/13 - 1
3-48501570-TCA-GAC c.1117_1119delinsGAC p.S373D Missense 8/13 - 1
3-48501570-T-G c.1117T>G p.S373A Missense 8/13 - 2
3-48501572-A-C c.1119A>C p.S373= Synonymous 8/13 - 1
3-48501572-A-G c.1119A>G p.S373= Synonymous 8/13 - 1
3-48501572-A-T c.1119A>T p.S373= Synonymous 8/13 - 1
3-48501578-G-A c.1125G>A p.L375= Synonymous 8/13 - 4
3-48501583-A-T c.1130A>T p.E377V Missense 8/13 - 1
3-48501592-A-T c.1139A>T p.N380I Missense 8/13 - 1
3-48501605-CT-C c.1152del p.G385Dfs*2 Frameshift 8/13 - 1
3-48501605-CTGGA-C c.1152_1155del p.G385* Frameshift 8/13 - 1
3-48501607-G-C c.1154G>C p.G385A Missense 8/13 - 5
3-48501625-G-A c.1172G>A p.R391Q Missense 8/13 - 1
3-48501639-C-T c.1186C>T p.R396C Missense 8/13 - 2
3-48501640-G-A c.1187G>A p.R396H Missense 8/13 - 3
3-48501641-T-A c.1188T>A p.R396= Synonymous 8/13 - 1
3-48501641-T-C c.1188T>C p.R396= Synonymous 8/13 - 1
3-48501641-T-G c.1188T>G p.R396= Synonymous 8/13 - 2
3-48501642-G-A c.1189G>A p.D397N Missense 8/13 - 5
3-48501652-C-T c.1199C>T p.P400L Missense 8/13 - 2
3-48501657-G-A c.1204G>A p.E402K Missense 8/13 - 1
3-48501657-G-C c.1204G>C p.E402Q Missense 8/13 - 1
3-48501658-A-G c.1205A>G p.E402G Missense 8/13 - 1
3-48501673-C-T c.1220C>T p.A407V Missense 8/13 - 1
3-48501689-G-C c.1236G>C p.Q412H Missense 8/13 - 1
3-48501689-G-T c.1236G>T p.Q412H Missense 8/13 - 1
3-48501694-C-A c.1241C>A p.P414H Missense 8/13 - 2
3-48501704-G-GAGCTTCCTGGAAGCAAATTCCTTTCTGGCCCTGGC c.1251_1252insAGCTTCCTGGAAGCAAATTCCTTTCTGGCCCTGGC p.H418Sfs*51 Frameshift 8/13 - 1
3-48501706-A-G c.1253A>G p.H418R Missense 8/13 - 4
3-48501710-C-T c.1257C>T p.F419= Synonymous 8/13 - 2
3-48501720-G-A c.1267G>A p.V423I Missense 8/13 - 3
3-48501721-GT-G c.1268del p.V423Dfs*34 Frameshift 8/13 - 1
3-48501726-T-C c.1273T>C p.F425L Missense 8/13 - 1
3-48501728-C-A c.1275C>A p.F425L Missense 8/13 - 1
3-48501728-C-G c.1275C>G p.F425L Missense 8/13 - 1
3-48501736-G-A c.1283G>A p.G428D Missense 8/13 - 1
3-48501748-A-T c.1295A>T p.Q432L Missense 8/13 - 2
3-48501749-G-A c.1296G>A p.Q432= Synonymous 8/13 - 1
3-48501751-C-T c.1298C>T p.A433V Missense 8/13 - 1
3-48501756-C-A c.1303C>A p.Q435K Missense 8/13 - 1
3-48501760-A-G c.1307A>G p.D436G Missense 8/13 - 1
3-48501762-T-C c.1309T>C p.L437= Synonymous 8/13 - 1
3-48501765-G-C c.1312G>C p.A438P Missense 8/13 - 3
3-48501766-C-T c.1313C>T p.A438V Missense 8/13 - 1
3-48501776-G-A c.1323G>A p.K441= Synonymous 8/13 - 1
3-48501783-G-A c.1330G>A p.G444R Missense 8/13 - 2
3-48501797-C-A c.1344C>A p.D448E Missense 8/13 - 1
3-48501797-C-G c.1344C>G p.D448E Missense 8/13 - 1
3-48501799-C-T c.1346C>T p.S449L Missense 8/13 - 1
3-48501802-C-T c.1349C>T p.P450L Missense 8/13 - 4
3-48501811-C-G c.1358C>G p.S453C Missense 8/13 - 1
3-48501811-C-T c.1358C>T p.S453F Missense 8/13 - 2
3-48501814-C-G c.1361C>G p.S454C Missense 8/13 - 1
3-48501815-C-A c.1362C>A p.S454= Synonymous 8/13 - 1
3-48501815-C-G c.1362C>G p.S454= Synonymous 8/13 - 1
3-48501815-C-T c.1362C>T p.S454= Synonymous 8/13 - 1
3-48501818-C-T c.1365C>T p.C455= Synonymous 8/13 - 2
3-48501819-G-A c.1366G>A p.V456M Missense 8/13 - 1
3-48501828-G-T c.1375G>T p.G459W Missense 8/13 - 1
3-48501829-G-T c.1376G>T p.G459V Missense 8/13 - 1
3-48501834-G-C c.1381G>C p.E461Q Missense 8/13 - 5
3-48501837-A-G c.1384A>G p.T462A Missense 8/13 - 2
3-48501843-C-T c.1390C>T p.P464S Missense 8/13 - 1
3-48501844-C-A c.1391C>A p.P464H Missense 8/13 - 1
3-48501844-C-T c.1391C>T p.P464L Missense 8/13 - 2
3-48501846-G-A c.1393G>A p.E465K Missense 8/13 - 2
3-48501848-G-A c.1395G>A p.E465= Synonymous 8/13 - 1
3-48501855-G-A c.1402G>A p.V468M Missense 8/13 - 1
3-48501859-G-A c.1406G>A p.C469Y Missense 8/13 - 1
3-48501865-T-A c.1412T>A p.L471Q Missense 8/13 - 2
3-48501867-G-A c.1414G>A p.E472K Missense 8/13 - 1
3-48501879-G-A c.1426G>A p.V476M Missense 8/13 - 1
3-48501879-GTG-ATC c.1426_1428delinsATC p.V476I Missense 8/13 - 1
3-48501884-T-A c.1431T>A p.T477= Synonymous 8/13 - 1
3-48501884-T-C c.1431T>C p.T477= Synonymous 8/13 - 1
3-48501884-T-G c.1431T>G p.T477= Synonymous 8/13 - 1
3-48501896-T-A c.1443T>A p.I481= Synonymous 8/13 - 1
3-48501896-T-C c.1443T>C p.I481= Synonymous 8/13 - 1
3-48501897-C-A c.1444C>A p.L482I Missense 8/13 - 2
3-48501904-A-G c.1451A>G p.H484R Missense 8/13 - 1
3-48501907-T-A c.1454T>A p.L485Q Missense 8/13 - 1
3-48501913-G-A c.1460G>A p.C487Y Missense 8/13 - 4
3-48501929-C-T c.1476C>T p.V492= Synonymous 8/13 - 3
3-48501930-G-A c.1477G>A p.V493I Missense 8/13 - 1
3-48501936-C-T c.1483C>T p.L495= Synonymous 8/13 - 2
3-48501938-A-C c.1485A>C p.L495= Synonymous 8/13 - 2
3-48501938-A-G c.1485A>G p.L495= Synonymous 8/13 - 3
3-48501938-A-T c.1485A>T p.L495= Synonymous 8/13 - 2
3-48501939-T-A c.1486T>A p.L496I Missense 8/13 - 1
3-48501955-G-A c.1502G>A p.G501E Missense 8/13 - 1
3-48501964-C-T c.1511C>T p.S504F Missense 8/13 - 1
3-48501967-C-A c.1514C>A p.A505D Missense 8/13 - 1
3-48501973-G-A c.1520G>A p.G507E Missense 8/13 - 1
3-48501974-G-A c.1521G>A p.G507= Synonymous 8/13 - 2
3-48501974-G-C c.1521G>C p.G507= Synonymous 8/13 - 1
3-48501974-G-T c.1521G>T p.G507= Synonymous 8/13 - 1
3-48501978-GGA-TGG c.1525_1527delinsTGG p.G509W Missense 8/13 - 1
3-48501989-C-T c.1536C>T p.S512= Synonymous 8/13 - 1
3-48502000-G-T c.1547G>T p.R516M Missense 8/13 - 1
3-48502007-T-C c.1554T>C p.S518= Synonymous 8/13 - 1
3-48502008-GA-CG c.1555_1556delinsCG p.D519R Missense 8/13 - 1
3-48502012-G-A c.1559G>A p.G520E Missense 8/13 - 1
3-48502013-A-C c.1560A>C p.G520= Synonymous 8/13 - 1
3-48502013-A-G c.1560A>G p.G520= Synonymous 8/13 - 3
3-48502013-A-T c.1560A>T p.G520= Synonymous 8/13 - 1
3-48502019-G-A c.1566G>A p.M522I Missense 8/13 - 1
3-48502021-C-A c.1568C>A p.T523N Missense 8/13 - 2
3-48502037-G-A c.1584G>A p.G528= Synonymous 8/13 - 1
3-48502032-AG-A c.1585del p.V529Lfs*11 Frameshift 8/13 - 1
3-48502043-T-A c.1590T>A p.A530= Synonymous 8/13 - 2
3-48502043-T-C c.1590T>C p.A530= Synonymous 8/13 - 3
3-48502043-T-G c.1590T>G p.A530= Synonymous 8/13 - 2
3-48502063-C-G c.1610C>G p.P537R Missense 8/13 - 2
3-48502064-A-C c.1611A>C p.P537= Synonymous 8/13 - 1
3-48502064-A-G c.1611A>G p.P537= Synonymous 8/13 - 1
3-48502064-A-T c.1611A>T p.P537= Synonymous 8/13 - 1
3-48502074-ATGC-A c.1623_1625del p.M541_L542delinsI MultiAAMissense 8/13 - 1
3-48502076-G-A c.1623G>A p.M541I Missense 8/13 - 1
3-48502077-C-T c.1624C>T p.L542F Missense 8/13 - 2
3-48502091-G-C c.1638G>C p.L546F Missense 8/13 - 1
3-48502091-G-T c.1638G>T p.L546F Missense 8/13 - 1
3-48502095-T-C c.1642T>C p.F548L Missense 8/13 - 1
3-48502097-C-A c.1644C>A p.F548L Missense 8/13 - 1
3-48502097-C-G c.1644C>G p.F548L Missense 8/13 - 1
3-48502116-C-G c.1663C>G p.H555D Missense 8/13 - 1
3-48502138-C-T c.1685C>T p.T562I Missense 8/13 - 1
3-48502144-G-A c.1691G>A p.C564Y Missense 8/13 - 1
3-48502146-C-T c.1693C>T p.L565F Missense 8/13 - 1
3-48502155-T-C c.1702T>C p.L568= Synonymous 8/13 - 2
3-48502157-G-A c.1704G>A p.L568= Synonymous 8/13 - 1
3-48502169-C-G c.1716C>G p.A572= Synonymous 8/13 - 1
3-48502170-G-A c.1717G>A p.E573K Missense 8/13 - 3
3-48502184-T-C c.1731T>C p.C577= Synonymous 8/13 - 1
3-48502197-A-G c.1744A>G p.R582G Missense 8/13 - 2
3-48503076-GT-G c.1745+887del - IntronicDeletion - 8/12 1
3-48505169-C-T c.1771C>T p.P591S Missense 9/13 - 1
3-48505170-C-T c.1772C>T p.P591L Missense 9/13 - 1
3-48505176-G-A c.1778G>A p.C593Y Missense 9/13 - 1
3-48505192-AC-A c.1798del p.L600Cfs*93 Frameshift 9/13 - 1
3-48505203-G-T c.1805G>T p.S602I Missense 9/13 - 1
3-48505205-G-A c.1807G>A p.V603M Missense 9/13 - 1
3-48505225-C-T c.1827C>T p.L609= Synonymous 9/13 - 2
3-48505226-C-T c.1828C>T p.L610F Missense 9/13 - 1
3-48505230-C-G c.1832C>G p.S611C Missense 9/13 - 1
3-48505232-C-T c.1834C>T p.L612= Synonymous 9/13 - 1
3-48505233-T-A c.1835T>A p.L612Q Missense 9/13 - 1
3-48505240-G-A c.1842G>A p.A614= Synonymous 9/13 - 1
3-48505242-A-G c.1844A>G p.D615G Missense 9/13 - 3
3-48505243-C-G c.1845C>G p.D615E Missense 9/13 - 1
3-48505262-C-T c.1864C>T p.Q622* Nonsense 9/13 - 4
3-48505268-CT-C c.1870del p.C624Vfs*69 Frameshift 9/13 - 1
3-48505268-T-G c.1870T>G p.C624G Missense 9/13 - 1
3-48505270-T-C c.1872T>C p.C624= Synonymous 9/13 - 1
3-48505278-C-A c.1880C>A p.S627* Nonsense 9/13 - 1
3-48505278-C-G c.1880C>G p.S627* Nonsense 9/13 - 1
3-48505278-C-T c.1880C>T p.S627L Missense 9/13 - 1
3-48505302-A-G c.1882+22A>G - IntronicSNV - 9/12 7
3-48505338-G-A c.1882+58G>A - IntronicSNV - 9/12 1
3-48505443-G-A c.1886G>A p.G629D Missense 10/13 - 2
3-48505444-C-A c.1887C>A p.G629= Synonymous 10/13 - 1
3-48505444-C-G c.1887C>G p.G629= Synonymous 10/13 - 1
3-48505444-C-T c.1887C>T p.G629= Synonymous 10/13 - 1
3-48505448-C-T c.1891C>T p.L631F Missense 10/13 - 2
3-48505456-G-A c.1899G>A p.L633= Synonymous 10/13 - 1
3-48505450-CCTG-C c.1903_1905del p.L635del InFrameDeletion 10/13 - 1
3-48505469-T-C c.1912T>C p.Y638H Missense 10/13 - 1
3-48505481-C-T c.1924C>T p.R642W Missense 10/13 - 1
3-48505496-G-A c.1939G>A p.A647T Missense 10/13 - 1
3-48505496-GC-AA c.1939_1940delinsAA p.A647N Missense 10/13 - 1
3-48505520-C-T c.1963C>T p.L655= Synonymous 10/13 - 1
3-48505831-T-G c.1975-150T>G - IntronicSNV - 10/12 2
3-48505924-C-T c.1975-57C>T - IntronicSNV - 10/12 1
3-48505964-C-A c.1975-17C>A - IntronicSNV - 10/12 13
3-48505984-G-T c.1978G>T p.V660L Missense 11/13 - 1
3-48506008-G-A c.2002G>A p.V668M Missense 11/13 - 1
3-48506010-G-C c.2004G>C p.V668= Synonymous 11/13 - 1
3-48506018-C-T c.2012C>T p.P671L Missense 11/13 - 2
3-48506022-G-C c.2016G>C p.L672F Missense 11/13 - 1
3-48506022-G-T c.2016G>T p.L672F Missense 11/13 - 1
3-48506024-C-T c.2018C>T p.P673L Missense 11/13 - 1
3-48506045-G-A c.2039G>A p.C680Y Missense 11/13 - 1
3-48506045-G-T c.2039G>T p.C680F Missense 11/13 - 1
3-48506050-T-A c.2044T>A p.C682S Missense 11/13 - 1
3-48506051-G-C c.2045G>C p.C682S Missense 11/13 - 1
3-48506056-G-A c.2050G>A p.V684M Missense 11/13 - 1
3-48506218-C-A c.2056-12C>A - IntronicSNV - 11/12 1
3-48506222-T-C c.2056-8T>C - IntronicSNV - 11/12 1
3-48506239-G-A c.2065G>A p.A689T Missense 12/13 - 1
3-48506240-C-T c.2066C>T p.A689V Missense 12/13 - 1
3-48506246-C-T c.2072C>T p.T691M Missense 12/13 - 1
3-48506262-A-C c.2088A>C p.R696S Missense 12/13 - 1
3-48506262-A-T c.2088A>T p.R696S Missense 12/13 - 1
3-48506279-G-A c.2105G>A p.R702Q Missense 12/13 - 8
3-48506281-A-T c.2107A>T p.R703W Missense 12/13 - 1
3-48506283-G-A c.2109G>A p.R703= Synonymous 12/13 - 3
3-48506284-G-C c.2110G>C p.A704P Missense 12/13 - 1
3-48506289-G-A c.2115G>A p.G705= Synonymous 12/13 - 1
3-48506291-G-A c.2117G>A p.G706E Missense 12/13 - 1
3-48506294-C-T c.2120C>T p.P707L Missense 12/13 - 1
3-48506296-C-A c.2122C>A p.P708T Missense 12/13 - 2
3-48506304-C-G c.2130C>G p.T710= Synonymous 12/13 - 2
3-48506304-C-T c.2130C>T p.T710= Synonymous 12/13 - 2
3-48506305-G-A c.2131G>A p.D711N Missense 12/13 - 3
3-48506317-C-T c.2143C>T p.R715W Missense 12/13 - 1
3-48506318-G-A c.2144G>A p.R715Q Missense 12/13 - 2
3-48506324-T-A c.2150T>A p.V717E Missense 12/13 - 2
3-48506328-C-A c.2154C>A p.R718= Synonymous 12/13 - 1
3-48506328-C-G c.2154C>G p.R718= Synonymous 12/13 - 1
3-48506328-C-T c.2154C>T p.R718= Synonymous 12/13 - 1
3-48506335-C-T c.2161C>T p.R721W Missense 12/13 - 4
3-48506337-G-A c.2163G>A p.R721= Synonymous 12/13 - 1
3-48506343-G-A c.2169G>A p.T723= Synonymous 12/13 - 1
3-48506343-G-C c.2169G>C p.T723= Synonymous 12/13 - 1
3-48506343-G-T c.2169G>T p.T723= Synonymous 12/13 - 1
3-48506346-G-A c.2172G>A p.V724= Synonymous 12/13 - 1
3-48506357-A-G c.2183A>G p.H728R Missense 12/13 - 2
3-48506358-C-T c.2184C>T p.H728= Synonymous 12/13 - 2
3-48506359-G-A c.2185G>A p.G729S Missense 12/13 - 1
3-48506379-G-A c.2205G>A p.K735= Synonymous 12/13 - 1
3-48506389-A-C c.2215A>C p.M739L Missense 12/13 - 1
3-48506389-A-T c.2215A>T p.M739L Missense 12/13 - 5
3-48506390-TG-CAGTA c.2216_2217delinsCAGTA p.M739delinsTV MultiAAMissense 12/13 - 1
3-48506401-G-A c.2227G>A p.E743K Missense 12/13 - 2
3-48506401-G-T c.2227G>T p.E743* Nonsense 12/13 - 2
3-48506405-T-G c.2231T>G p.V744G Missense 12/13 - 2
3-48506406-C-T c.2232C>T p.V744= Synonymous 12/13 - 1
3-48506410-C-G c.2236C>G p.H746D Missense 12/13 - 1
3-48506419-G-A c.2245G>A p.D749N Missense 12/13 - 2
3-48506424-G-A c.2250G>A p.Q750= Synonymous 12/13 - 1
3-48506433-G-A c.2259G>A p.P753= Synonymous 12/13 - 1
3-48506448-C-A c.2274C>A p.L758= Synonymous 12/13 - 1
3-48506448-C-G c.2274C>G p.L758= Synonymous 12/13 - 1
3-48506448-C-T c.2274C>T p.L758= Synonymous 12/13 - 2
3-48506452-C-T c.2278C>T p.R760* Nonsense 12/13 - 2
3-48506453-G-A c.2279G>A p.R760Q Missense 12/13 - 1
3-48506458-C-T c.2284C>T p.L762F Missense 12/13 - 1
3-48506470-A-G c.2296A>G p.T766A Missense 12/13 - 1
3-48506471-C-T c.2297C>T p.T766M Missense 12/13 - 5
3-48506476-T-G c.2302T>G p.C768G Missense 12/13 - 1
3-48506482-G-A c.2308G>A p.E770K Missense 12/13 - 1
3-48506888-G-A c.2311G>A p.A771T Missense 13/13 - 1
3-48506889-C-T c.2312C>T p.A771V Missense 13/13 - 1
3-48506892-C-A c.2315C>A p.A772D Missense 13/13 - 1
3-48506900-G-A c.2323G>A p.D775N Missense 13/13 - 1
3-48506900-G-T c.2323G>T p.D775Y Missense 13/13 - 2
3-48506910-C-T c.2333C>T p.A778V Missense 13/13 - 3
3-48506914-G-A c.2337G>A p.A779= Synonymous 13/13 - 1
3-48506914-G-C c.2337G>C p.A779= Synonymous 13/13 - 1
3-48506914-G-T c.2337G>T p.A779= Synonymous 13/13 - 1
3-48506918-A-T c.2341A>T p.T781S Missense 13/13 - 1
3-48506919-C-G c.2342C>G p.T781S Missense 13/13 - 1
3-48506920-C-A c.2343C>A p.T781= Synonymous 13/13 - 1
3-48506920-C-G c.2343C>G p.T781= Synonymous 13/13 - 1
3-48506920-C-T c.2343C>T p.T781= Synonymous 13/13 - 1
3-48506925-T-C c.2348T>C p.V783A Missense 13/13 - 3
3-48506933-C-G c.2356C>G p.P786A Missense 13/13 - 2
3-48506934-C-T c.2357C>T p.P786L Missense 13/13 - 3
3-48506936-G-A c.2359G>A p.E787K Missense 13/13 - 1
3-48506952-G-A c.2375G>A p.*792= Synonymous 13/13 - 1
3-48507165-C-A c.*212C>A - IntergenicSNV 13/13 - 2
3-48507165-C-T c.*212C>T - IntergenicSNV 13/13 - 2
3-48507182-A-G c.*229A>G - IntergenicSNV 13/13 - 1
3-48507575-G-A c.*622G>A - IntergenicSNV 13/13 - 1