KCNJ1

KCNJ1 potassium inwardly rectifying channel subfamily J member 1

Annotation transcript: NM_153766.3

633 unique variant annotations were identified in 321 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
11-128707975-G-C c.*1045C>G - 3-UTRSNV 3/3 - 5
11-128708009-G-A c.*1011C>T - 3-UTRSNV 3/3 - 5
11-128708344-T-C c.*676A>G - 3-UTRSNV 3/3 - 2
11-128708518-C-CTTG c.*499_*501dup - 3-UTRInsertion 3/3 - 1
11-128708519-T-TTTG c.*500_*501insCAA - 3-UTRInsertion 3/3 - 1
11-128708932-C-T c.*88G>A - 3-UTRSNV 3/3 - 1
11-128708947-T-A c.*73A>T - 3-UTRSNV 3/3 - 8
11-128709004-C-T c.*16G>A - 3-UTRSNV 3/3 - 1
11-128709023-C-T c.1116G>A p.M372I Missense 3/3 - 1
11-128709027-T-G c.1112A>C p.K371T Missense 3/3 - 1
11-128709028-T-C c.1111A>G p.K371E Missense 3/3 - 1
11-128709028-T-G c.1111A>C p.K371Q Missense 3/3 - 1
11-128709037-C-T c.1102G>A p.D368N Missense 3/3 - 3
11-128709045-T-C c.1094A>G p.N365S Missense 3/3 - 2
11-128709049-C-T c.1090G>A p.V364I Missense 3/3 - 4
11-128709053-T-A c.1086A>T p.S362= Synonymous 3/3 - 1
11-128709053-T-C c.1086A>G p.S362= Synonymous 3/3 - 1
11-128709053-T-G c.1086A>C p.S362= Synonymous 3/3 - 1
11-128709054-G-A c.1085C>T p.S362L Missense 3/3 - 1
11-128709055-A-G c.1084T>C p.S362P Missense 3/3 - 2
11-128709056-C-A c.1083G>T p.L361F Missense 3/3 - 2
11-128709056-C-G c.1083G>C p.L361F Missense 3/3 - 2
11-128709056-C-T c.1083G>A p.L361= Synonymous 3/3 - 2
11-128709058-A-G c.1081T>C p.L361= Synonymous 3/3 - 1
11-128709063-A-G c.1076T>C p.F359S Missense 3/3 - 1
11-128709062-G-C c.1077C>G p.F359L Missense 3/3 - 1
11-128709062-G-T c.1077C>A p.F359L Missense 3/3 - 1
11-128709064-A-G c.1075T>C p.F359L Missense 3/3 - 1
11-128709071-G-A c.1068C>T p.N356= Synonymous 3/3 - 1
11-128709082-C-T c.1057G>A p.G353S Missense 3/3 - 1
11-128709085-T-C c.1054A>G p.R352G Missense 3/3 - 1
11-128709093-C-T c.1046G>A p.R349K Missense 3/3 - 1
11-128709096-G-A c.1043C>T p.A348V Missense 3/3 - 2
11-128709098-T-C c.1041A>G p.R347= Synonymous 3/3 - 1
11-128709098-TCT-ATG c.1039_1041delinsCAT p.R347H Missense 3/3 - 2
11-128709100-T-A c.1039A>T p.R347* Nonsense 3/3 - 6
11-128709100-T-C c.1039A>G p.R347G Missense 3/3 - 1
11-128709103-C-T c.1036G>A p.V346I Missense 3/3 - 1
11-128709106-C-T c.1033G>A p.D345N Missense 3/3 - 1
11-128709108-T-G c.1031A>C p.K344T Missense 3/3 - 1
11-128709108-TT-GC c.1030_1031delinsGC p.K344A Missense 3/3 - 1
11-128709114-T-G c.1025A>C p.N342T Missense 3/3 - 1
11-128709120-A-C c.1019T>G p.L340R Missense 3/3 - 2
11-128709120-A-G c.1019T>C p.L340P Missense 3/3 - 1
11-128709123-C-A c.1016G>T p.C339F Missense 3/3 - 1
11-128709123-C-T c.1016G>A p.C339Y Missense 3/3 - 1
11-128709126-A-G c.1013T>C p.M338T Missense 3/3 - 19
11-128709127-T-TA c.1011_1012insT p.M338Yfs*5 Frameshift 3/3 - 1
11-128709129-G-T c.1010C>A p.A337D Missense 3/3 - 1
11-128709132-CA-GC c.1006_1007delinsGC p.C336A Missense 3/3 - 1
11-128709132-C-CA c.1006dup p.C336Lfs*7 Frameshift 3/3 - 1
11-128709135-T-TGG c.1003_1004insCC p.H335Pfs*17 Frameshift 3/3 - 1
11-128709139-G-T c.1000C>A p.P334T Missense 3/3 - 1
11-128709140-GGGTC-G c.996_999del p.E332Dfs*18 Frameshift 3/3 - 1
11-128709137-A-AG c.1001dup p.H335Sfs*8 Frameshift 3/3 - 1
11-128709145-C-T c.994G>A p.E332K Missense 3/3 - 3
11-128709147-AC-CA c.991_992delinsTG p.V331W Missense 3/3 - 1
11-128709151-C-A c.988G>T p.E330* Nonsense 3/3 - 1
11-128709154-C-A c.985G>T p.V329L Missense 3/3 - 1
11-128709154-C-G c.985G>C p.V329L Missense 3/3 - 2
11-128709156-G-A c.983C>T p.T328I Missense 3/3 - 2
11-128709164-A-C c.975T>G p.F325L Missense 3/3 - 1
11-128709165-A-C c.974T>G p.F325C Missense 3/3 - 1
11-128709170-A-C c.969T>G p.H323Q Missense 3/3 - 1
11-128709171-T-C c.968A>G p.H323R Missense 3/3 - 2
11-128709171-T-G c.968A>C p.H323P Missense 3/3 - 1
11-128709172-G-A c.967C>T p.H323Y Missense 3/3 - 1
11-128709173-G-C c.966C>G p.F322L Missense 3/3 - 1
11-128709173-G-T c.966C>A p.F322L Missense 3/3 - 1
11-128709175-A-G c.964T>C p.F322L Missense 3/3 - 1
11-128709173-GA-G c.965del p.F322Sfs*29 Frameshift 3/3 - 1
11-128709177-T-C c.962A>G p.D321G Missense 3/3 - 1
11-128709178-TCC-T c.960_961del p.D321Ffs*3 Frameshift 3/3 - 1
11-128709182-CT-C c.957del p.V320Wfs*31 Frameshift 3/3 - 1
11-128709183-C-T c.956G>A p.R319Q Missense 3/3 - 2
11-128709184-G-A c.955C>T p.R319* Nonsense 3/3 - 3
11-128709184-G-GA c.954_955insT p.R319Sfs*6 Frameshift 3/3 - 1
11-128709186-T-TGG c.952_953insCC p.Y318Sfs*34 Frameshift 3/3 - 1
11-128709189-T-C c.950A>G p.K317R Missense 3/3 - 1
11-128709190-T-A c.949A>T p.K317* Nonsense 3/3 - 1
11-128709190-T-C c.949A>G p.K317E Missense 3/3 - 2
11-128709191-C-A c.948G>T p.G316= Synonymous 3/3 - 1
11-128709191-C-G c.948G>C p.G316= Synonymous 3/3 - 1
11-128709191-C-T c.948G>A p.G316= Synonymous 3/3 - 1
11-128709195-T-C c.944A>G p.E315G Missense 3/3 - 3
11-128709195-T-G c.944A>C p.E315A Missense 3/3 - 1
11-128709196-C-T c.943G>A p.E315K Missense 3/3 - 1
11-128709197-C-A c.942G>T p.K314N Missense 3/3 - 1
11-128709197-C-G c.942G>C p.K314N Missense 3/3 - 1
11-128709198-T-C c.941A>G p.K314R Missense 3/3 - 1
11-128709201-G-A c.938C>T p.T313I Missense 3/3 - 4
11-128709206-GGA-CTC c.931_933delinsGAG p.S311E Missense 3/3 - 1
11-128709207-G-A c.932C>T p.S311F Missense 3/3 - 1
11-128709207-G-T c.932C>A p.S311Y Missense 3/3 - 1
11-128709209-T-A c.930A>T p.V310= Synonymous 3/3 - 1
11-128709209-T-C c.930A>G p.V310= Synonymous 3/3 - 1
11-128709209-T-G c.930A>C p.V310= Synonymous 3/3 - 1
11-128709211-C-A c.928G>T p.V310L Missense 3/3 - 1
11-128709211-C-G c.928G>C p.V310L Missense 3/3 - 1
11-128709211-C-T c.928G>A p.V310I Missense 3/3 - 2
11-128709212-T-A c.927A>T p.I309= Synonymous 3/3 - 1
11-128709212-T-G c.927A>C p.I309= Synonymous 3/3 - 1
11-128709215-G-A c.924C>T p.P308= Synonymous 3/3 - 1
11-128709215-G-T c.924C>A p.P308= Synonymous 3/3 - 1
11-128709216-GG-CA c.922_923delinsTG p.P308C Missense 3/3 - 1
11-128709217-G-A c.922C>T p.P308S Missense 3/3 - 2
11-128709219-G-T c.920C>A p.A307D Missense 3/3 - 1
11-128709220-C-A c.919G>T p.A307S Missense 3/3 - 2
11-128709220-C-T c.919G>A p.A307T Missense 3/3 - 2
11-128709221-A-C c.918T>G p.F306L Missense 3/3 - 1
11-128709224-A-G c.915T>C p.R305= Synonymous 3/3 - 1
11-128709225-C-G c.914G>C p.R305P Missense 3/3 - 1
11-128709225-C-T c.914G>A p.R305H Missense 3/3 - 1
11-128709226-G-A c.913C>T p.R305C Missense 3/3 - 3
11-128709226-G-C c.913C>G p.R305G Missense 3/3 - 1
11-128709230-G-A c.909C>T p.G303= Synonymous 3/3 - 1
11-128709232-C-T c.907G>A p.G303S Missense 3/3 - 2
11-128709237-A-G c.902T>C p.L301P Missense 3/3 - 1
11-128709240-A-C c.899T>G p.V300G Missense 3/3 - 2
11-128709242-C-A c.897G>T p.E299D Missense 3/3 - 4
11-128709242-C-G c.897G>C p.E299D Missense 3/3 - 2
11-128709244-C-T c.895G>A p.E299K Missense 3/3 - 1
11-128709246-T-C c.893A>G p.E298G Missense 3/3 - 1
11-128709250-G-A c.889C>T p.P297S Missense 3/3 - 1
11-128709251-GAC-CCA c.886_888delinsTGG p.V296W Missense 3/3 - 1
11-128709252-AC-TT c.886_887delinsAA p.V296N Missense 3/3 - 1
11-128709254-A-C c.885T>G p.Y295* Nonsense 3/3 - 1
11-128709254-A-T c.885T>A p.Y295* Nonsense 3/3 - 1
11-128709255-T-C c.884A>G p.Y295C Missense 3/3 - 1
11-128709255-T-G c.884A>C p.Y295S Missense 3/3 - 1
11-128709259-A-C c.880T>G p.S294A Missense 3/3 - 1
11-128709261-G-A c.878C>T p.T293I Missense 3/3 - 2
11-128709262-T-A c.877A>T p.T293S Missense 3/3 - 1
11-128709262-T-C c.877A>G p.T293A Missense 3/3 - 1
11-128709264-C-A c.875G>T p.R292L Missense 3/3 - 1
11-128709264-C-T c.875G>A p.R292Q Missense 3/3 - 7
11-128709265-G-A c.874C>T p.R292W Missense 3/3 - 3
11-128709265-G-C c.874C>G p.R292G Missense 3/3 - 1
11-128709273-CA-AC c.865_866delinsGT p.C289V Missense 3/3 - 1
11-128709273-CA-GT c.865_866delinsAC p.C289T Missense 3/3 - 1
11-128709273-C-T c.866G>A p.C289Y Missense 3/3 - 2
11-128709275-G-A c.864C>T p.T288= Synonymous 3/3 - 1
11-128709275-G-C c.864C>G p.T288= Synonymous 3/3 - 1
11-128709275-G-T c.864C>A p.T288= Synonymous 3/3 - 1
11-128709277-T-C c.862A>G p.T288A Missense 3/3 - 1
11-128709285-G-T c.854C>A p.T285N Missense 3/3 - 1
11-128709286-T-C c.853A>G p.T285A Missense 3/3 - 1
11-128709289-A-G c.850T>C p.S284P Missense 3/3 - 1
11-128709291-TC-CA c.847_848delinsTG p.E283W Missense 3/3 - 1
11-128709292-C-G c.847G>C p.E283Q Missense 3/3 - 1
11-128709292-C-T c.847G>A p.E283K Missense 3/3 - 2
11-128709301-C-T c.838G>A p.G280S Missense 3/3 - 2
11-128709308-A-C c.831T>G p.F277L Missense 3/3 - 1
11-128709308-A-T c.831T>A p.F277L Missense 3/3 - 1
11-128709310-A-G c.829T>C p.F277L Missense 3/3 - 1
11-128709314-CAC-GAT c.823_825delinsATC p.V275I Missense 3/3 - 1
11-128709315-A-C c.824T>G p.V275G Missense 3/3 - 1
11-128709315-A-T c.824T>A p.V275E Missense 3/3 - 1
11-128709316-C-A c.823G>T p.V275L Missense 3/3 - 1
11-128709316-C-G c.823G>C p.V275L Missense 3/3 - 1
11-128709321-T-G c.818A>C p.E273A Missense 3/3 - 1
11-128709322-C-T c.817G>A p.E273K Missense 3/3 - 1
11-128709327-T-A c.812A>T p.D271V Missense 3/3 - 1
11-128709328-C-T c.811G>A p.D271N Missense 3/3 - 1
11-128709330-T-C c.809A>G p.Q270R Missense 3/3 - 1
11-128709331-G-A c.808C>T p.Q270* Nonsense 3/3 - 3
11-128709331-G-T c.808C>A p.Q270K Missense 3/3 - 2
11-128709335-G-A c.804C>T p.L268= Synonymous 3/3 - 2
11-128709340-G-A c.799C>T p.L267F Missense 3/3 - 2
11-128709340-G-C c.799C>G p.L267V Missense 3/3 - 1
11-128709341-G-A c.798C>T p.T266= Synonymous 3/3 - 1
11-128709341-GG-CA c.797_798delinsTG p.T266M Missense 3/3 - 1
11-128709341-GG-CT c.797_798delinsAG p.T266K Missense 3/3 - 1
11-128709342-G-T c.797C>A p.T266N Missense 3/3 - 1
11-128709343-T-C c.796A>G p.T266A Missense 3/3 - 1
11-128709344-C-A c.795G>T p.E265D Missense 3/3 - 1
11-128709344-C-G c.795G>C p.E265D Missense 3/3 - 1
11-128709346-C-G c.793G>C p.E265Q Missense 3/3 - 1
11-128709348-G-A c.791C>T p.A264V Missense 3/3 - 4
11-128709349-C-T c.790G>A p.A264T Missense 3/3 - 1
11-128709355-T-C c.784A>G p.M262V Missense 3/3 - 1
11-128709356-G-A c.783C>T p.H261= Synonymous 3/3 - 4
11-128709361-A-T c.778T>A p.F260I Missense 3/3 - 1
11-128709363-A-G c.776T>C p.F259S Missense 3/3 - 1
11-128709362-GA-G c.776del p.F259Sfs*16 Frameshift 3/3 - 1
11-128709368-G-C c.771C>G p.S257R Missense 3/3 - 1
11-128709368-G-T c.771C>A p.S257R Missense 3/3 - 1
11-128709370-T-G c.769A>C p.S257R Missense 3/3 - 1
11-128709373-T-C c.766A>G p.N256D Missense 3/3 - 1
11-128709374-G-T c.765C>A p.H255Q Missense 3/3 - 1
11-128709374-GTG-CTC c.763_765delinsGAG p.H255E Missense 3/3 - 1
11-128709377-A-C c.762T>G p.D254E Missense 3/3 - 1
11-128709377-A-T c.762T>A p.D254E Missense 3/3 - 1
11-128709378-T-C c.761A>G p.D254G Missense 3/3 - 1
11-128709379-C-G c.760G>C p.D254H Missense 3/3 - 1
11-128709381-A-G c.758T>C p.I253T Missense 3/3 - 1
11-128709381-AT-CA c.757_758delinsTG p.I253C Missense 3/3 - 1
11-128709382-T-A c.757A>T p.I253F Missense 3/3 - 2
11-128709382-T-C c.757A>G p.I253V Missense 3/3 - 2
11-128709383-G-A c.756C>T p.V252= Synonymous 3/3 - 1
11-128709383-G-C c.756C>G p.V252= Synonymous 3/3 - 1
11-128709383-G-T c.756C>A p.V252= Synonymous 3/3 - 2
11-128709384-A-G c.755T>C p.V252A Missense 3/3 - 1
11-128709385-C-G c.754G>C p.V252L Missense 3/3 - 1
11-128709385-C-T c.754G>A p.V252I Missense 3/3 - 2
11-128709388-G-A c.751C>T p.H251Y Missense 3/3 - 5
11-128709389-G-A c.750C>T p.Y250= Synonymous 3/3 - 1
11-128709394-T-C c.745A>G p.I249V Missense 3/3 - 1
11-128709403-G-A c.736C>T p.P246S Missense 3/3 - 1
11-128709404-G-A c.735C>T p.S245= Synonymous 3/3 - 2
11-128709404-G-C c.735C>G p.S245= Synonymous 3/3 - 1
11-128709404-G-T c.735C>A p.S245= Synonymous 3/3 - 1
11-128709406-A-G c.733T>C p.S245P Missense 3/3 - 1
11-128709417-AA-GG c.721_722delinsCC p.L241P Missense 3/3 - 1
11-128709424-C-G c.715G>C p.E239Q Missense 3/3 - 1
11-128709424-C-T c.715G>A p.E239K Missense 3/3 - 4
11-128709429-C-G c.710G>C p.G237A Missense 3/3 - 1
11-128709429-C-T c.710G>A p.G237E Missense 3/3 - 2
11-128709430-C-T c.709G>A p.G237R Missense 3/3 - 1
11-128709435-T-C c.704A>G p.D235G Missense 3/3 - 2
11-128709436-C-G c.703G>C p.D235H Missense 3/3 - 1
11-128709437-AAC-CCA c.700_702delinsTGG p.V234W Missense 3/3 - 1
11-128709438-A-G c.701T>C p.V234A Missense 3/3 - 1
11-128709444-A-C c.695T>G p.F232C Missense 3/3 - 1
11-128709446-G-A c.693C>T p.N231= Synonymous 3/3 - 1
11-128709447-T-C c.692A>G p.N231S Missense 3/3 - 2
11-128709448-T-C c.691A>G p.N231D Missense 3/3 - 1
11-128709451-T-C c.688A>G p.I230V Missense 3/3 - 1
11-128709458-C-A c.681G>T p.Q227H Missense 3/3 - 1
11-128709458-C-T c.681G>A p.Q227= Synonymous 3/3 - 1
11-128709461-G-T c.678C>A p.D226E Missense 3/3 - 1
11-128709464-C-T c.675G>A p.L225= Synonymous 3/3 - 1
11-128709474-G-A c.665C>T p.T222I Missense 3/3 - 2
11-128709475-T-G c.664A>C p.T222P Missense 3/3 - 1
11-128709481-C-G c.658G>C p.G220R Missense 3/3 - 1
11-128709481-C-T c.658G>A p.G220R Missense 3/3 - 1
11-128709487-G-A c.652C>T p.P218S Missense 3/3 - 1
11-128709488-A-C c.651T>G p.T217= Synonymous 3/3 - 1
11-128709488-A-G c.651T>C p.T217= Synonymous 3/3 - 1
11-128709488-A-T c.651T>A p.T217= Synonymous 3/3 - 1
11-128709492-A-G c.647T>C p.V216A Missense 3/3 - 1
11-128709498-G-A c.641C>T p.T214I Missense 3/3 - 1
11-128709500-C-T c.639G>A p.K213= Synonymous 3/3 - 1
11-128709503-C-A c.636G>T p.L212= Synonymous 3/3 - 1
11-128709505-G-A c.634C>T p.L212= Synonymous 3/3 - 1
11-128709507-A-C c.632T>G p.L211R Missense 3/3 - 2
11-128709508-G-A c.631C>T p.L211F Missense 3/3 - 1
11-128709513-C-A c.626G>T p.G209V Missense 3/3 - 1
11-128709513-C-T c.626G>A p.G209E Missense 3/3 - 1
11-128709518-A-C c.621T>G p.I207M Missense 3/3 - 2
11-128709529-C-T c.610G>A p.G204S Missense 3/3 - 1
11-128709537-A-C c.602T>G p.L201R Missense 3/3 - 1
11-128709538-G-A c.601C>T p.L201F Missense 3/3 - 5
11-128709539-G-C c.600C>G p.S200R Missense 3/3 - 2
11-128709540-C-T c.599G>A p.S200N Missense 3/3 - 1
11-128709545-C-A c.594G>T p.R198S Missense 3/3 - 1
11-128709550-G-A c.589C>T p.L197F Missense 3/3 - 1
11-128709552-T-C c.587A>G p.N196S Missense 3/3 - 1
11-128709553-T-C c.586A>G p.N196D Missense 3/3 - 1
11-128709555-G-A c.584C>T p.A195V Missense 3/3 - 2
11-128709555-G-C c.584C>G p.A195G Missense 3/3 - 1
11-128709556-C-A c.583G>T p.A195S Missense 3/3 - 1
11-128709556-C-G c.583G>C p.A195P Missense 3/3 - 1
11-128709558-A-G c.581T>C p.V194A Missense 3/3 - 1
11-128709561-C-G c.578G>C p.R193P Missense 3/3 - 4
11-128709561-C-T c.578G>A p.R193Q Missense 3/3 - 1
11-128709562-G-A c.577C>T p.R193* Nonsense 3/3 - 6
11-128709565-T-A c.574A>T p.I192F Missense 3/3 - 1
11-128709571-G-A c.568C>T p.L190F Missense 3/3 - 4
11-128709571-G-T c.568C>A p.L190I Missense 3/3 - 1
11-128709572-G-A c.567C>T p.C189= Synonymous 3/3 - 2
11-128709573-CA-GT c.565_566delinsAC p.C189T Missense 3/3 - 1
11-128709573-C-G c.566G>C p.C189S Missense 3/3 - 2
11-128709574-A-T c.565T>A p.C189S Missense 3/3 - 2
11-128709577-G-A c.562C>T p.L188F Missense 3/3 - 1
11-128709577-G-T c.562C>A p.L188I Missense 3/3 - 1
11-128709578-C-A c.561G>T p.K187N Missense 3/3 - 1
11-128709578-C-G c.561G>C p.K187N Missense 3/3 - 1
11-128709578-C-T c.561G>A p.K187= Synonymous 3/3 - 1
11-128709579-T-C c.560A>G p.K187R Missense 3/3 - 1
11-128709583-C-A c.556G>T p.G186W Missense 3/3 - 1
11-128709583-C-T c.556G>A p.G186R Missense 3/3 - 1
11-128709584-TC-GT c.554_555delinsAC p.G185D Missense 3/3 - 1
11-128709585-CC-GT c.553_554delinsAC p.G185T Missense 3/3 - 1
11-128709586-C-G c.553G>C p.G185R Missense 3/3 - 1
11-128709586-C-T c.553G>A p.G185R Missense 3/3 - 1
11-128709587-CCG-GCT c.550_552delinsAGC p.R184S Missense 3/3 - 1
11-128709588-C-G c.551G>C p.R184P Missense 3/3 - 1
11-128709588-C-T c.551G>A p.R184Q Missense 3/3 - 1
11-128709589-G-A c.550C>T p.R184W Missense 3/3 - 1
11-128709589-G-C c.550C>G p.R184G Missense 3/3 - 1
11-128709592-T-C c.547A>G p.K183E Missense 3/3 - 2
11-128709602-T-A c.537A>T p.A179= Synonymous 3/3 - 1
11-128709602-T-C c.537A>G p.A179= Synonymous 3/3 - 1
11-128709602-T-G c.537A>C p.A179= Synonymous 3/3 - 1
11-128709603-G-A c.536C>T p.A179V Missense 3/3 - 1
11-128709604-C-T c.535G>A p.A179T Missense 3/3 - 1
11-128709605-G-A c.534C>T p.N178= Synonymous 3/3 - 1
11-128709611-G-T c.528C>A p.S176R Missense 3/3 - 1
11-128709612-C-T c.527G>A p.S176N Missense 3/3 - 1
11-128709617-CGT-GTC c.520_522delinsGAC p.T174D Missense 3/3 - 1
11-128709617-C-T c.522G>A p.T174= Synonymous 3/3 - 1
11-128709618-G-A c.521C>T p.T174M Missense 3/3 - 6
11-128709618-G-T c.521C>A p.T174K Missense 3/3 - 1
11-128709622-T-A c.517A>T p.I173F Missense 3/3 - 1
11-128709622-T-C c.517A>G p.I173V Missense 3/3 - 1
11-128709626-C-A c.513G>T p.K171N Missense 3/3 - 1
11-128709626-C-G c.513G>C p.K171N Missense 3/3 - 1
11-128709628-T-A c.511A>T p.K171* Nonsense 3/3 - 2
11-128709633-C-T c.506G>A p.R169H Missense 3/3 - 4
11-128709634-G-A c.505C>T p.R169C Missense 3/3 - 3
11-128709634-G-T c.505C>A p.R169S Missense 3/3 - 2
11-128709641-G-A c.498C>T p.P166= Synonymous 3/3 - 2
11-128709641-G-C c.498C>G p.P166= Synonymous 3/3 - 1
11-128709641-G-T c.498C>A p.P166= Synonymous 3/3 - 1
11-128709643-G-A c.496C>T p.P166S Missense 3/3 - 2
11-128709644-CCT-ACA c.493_495delinsTGT p.R165C Missense 3/3 - 1
11-128709645-C-T c.494G>A p.R165K Missense 3/3 - 1
11-128709648-GA-AG c.490_491delinsCT p.S164L Missense 3/3 - 1
11-128709648-G-C c.491C>G p.S164C Missense 3/3 - 1
11-128709649-A-C c.490T>G p.S164A Missense 3/3 - 1
11-128709650-G-C c.489C>G p.I163M Missense 3/3 - 3
11-128709657-G-A c.482C>T p.A161V Missense 3/3 - 1
11-128709657-GC-CA c.481_482delinsTG p.A161C Missense 3/3 - 1
11-128709658-C-T c.481G>A p.A161T Missense 3/3 - 1
11-128709659-T-A c.480A>T p.L160F Missense 3/3 - 1
11-128709659-TAA-CAT c.478_480delinsATG p.L160M Missense 3/3 - 2
11-128709659-T-G c.480A>C p.L160F Missense 3/3 - 1
11-128709660-AA-CC c.478_479delinsGG p.L160G Missense 3/3 - 3
11-128709660-AA-GC c.478_479delinsGC p.L160A Missense 3/3 - 1
11-128709660-AA-GT c.478_479delinsAC p.L160T Missense 3/3 - 1
11-128709660-A-G c.479T>C p.L160S Missense 3/3 - 1
11-128709661-A-C c.478T>G p.L160V Missense 3/3 - 1
11-128709662-G-A c.477C>T p.I159= Synonymous 3/3 - 1
11-128709664-T-C c.475A>G p.I159V Missense 3/3 - 1
11-128709665-G-A c.474C>T p.A158= Synonymous 3/3 - 1
11-128709665-G-C c.474C>G p.A158= Synonymous 3/3 - 1
11-128709665-G-T c.474C>A p.A158= Synonymous 3/3 - 1
11-128709666-GC-AG c.472_473delinsCT p.A158L Missense 3/3 - 1
11-128709667-C-A c.472G>T p.A158S Missense 3/3 - 1
11-128709667-C-T c.472G>A p.A158T Missense 3/3 - 2
11-128709668-CC-GT c.470_471delinsAC p.G157D Missense 3/3 - 1
11-128709668-C-G c.471G>C p.G157= Synonymous 3/3 - 1
11-128709669-C-G c.470G>C p.G157A Missense 3/3 - 1
11-128709669-C-T c.470G>A p.G157E Missense 3/3 - 1
11-128709672-C-G c.467G>C p.C156S Missense 3/3 - 1
11-128709673-A-T c.466T>A p.C156S Missense 3/3 - 1
11-128709674-C-A c.465G>T p.M155I Missense 3/3 - 1
11-128709674-C-G c.465G>C p.M155I Missense 3/3 - 1
11-128709674-C-T c.465G>A p.M155I Missense 3/3 - 1
11-128709677-G-A c.462C>T p.F154= Synonymous 3/3 - 2
11-128709685-T-A c.454A>T p.N152Y Missense 3/3 - 1
11-128709685-T-C c.454A>G p.N152D Missense 3/3 - 3
11-128709685-T-G c.454A>C p.N152H Missense 3/3 - 1
11-128709688-T-C c.451A>G p.I151V Missense 3/3 - 1
11-128709694-C-G c.445G>C p.V149L Missense 3/3 - 1
11-128709696-C-A c.443G>T p.G148V Missense 3/3 - 2
11-128709696-CC-GG c.442_443inv p.G148P Missense 3/3 - 1
11-128709696-C-G c.443G>C p.G148A Missense 3/3 - 1
11-128709696-C-T c.443G>A p.G148E Missense 3/3 - 3
11-128709698-A-C c.441T>G p.L147= Synonymous 3/3 - 2
11-128709698-A-G c.441T>C p.L147= Synonymous 3/3 - 2
11-128709698-A-T c.441T>A p.L147= Synonymous 3/3 - 2
11-128709699-A-G c.440T>C p.L147P Missense 3/3 - 1
11-128709700-G-A c.439C>T p.L147F Missense 3/3 - 1
11-128709702-A-G c.437T>C p.I146T Missense 3/3 - 1
11-128709710-A-G c.429T>C p.F143= Synonymous 3/3 - 1
11-128709718-G-A c.421C>T p.L141F Missense 3/3 - 1
11-128709720-AG-GC c.418_419delinsGC p.L140A Missense 3/3 - 1
11-128709726-AT-TC c.412_413delinsGA p.I138D Missense 3/3 - 1
11-128709727-T-A c.412A>T p.I138F Missense 3/3 - 1
11-128709730-C-T c.409G>A p.A137T Missense 3/3 - 5
11-128709740-C-G c.399G>C p.Q133H Missense 3/3 - 1
11-128709742-G-A c.397C>T p.Q133* Nonsense 3/3 - 1
11-128709742-G-C c.397C>G p.Q133E Missense 3/3 - 2
11-128709743-T-A c.396A>T p.E132D Missense 3/3 - 1
11-128709743-T-G c.396A>C p.E132D Missense 3/3 - 1
11-128709743-TTC-GTT c.394_396delinsAAC p.E132N Missense 3/3 - 1
11-128709744-TC-AG c.394_395delinsCT p.E132L Missense 3/3 - 1
11-128709745-C-G c.394G>C p.E132Q Missense 3/3 - 4
11-128709745-C-T c.394G>A p.E132K Missense 3/3 - 1
11-128709750-A-G c.389T>C p.V130A Missense 3/3 - 1
11-128709751-C-T c.388G>A p.V130M Missense 3/3 - 3
11-128709755-C-A c.384G>T p.R128S Missense 3/3 - 1
11-128709755-CCT-ATA c.382_384delinsTAT p.R128Y Missense 3/3 - 3
11-128709756-C-A c.383G>T p.R128M Missense 3/3 - 1
11-128709756-C-T c.383G>A p.R128K Missense 3/3 - 1
11-128709756-CT-TC c.382_383delinsGA p.R128E Missense 3/3 - 1
11-128709758-G-A c.381C>T p.F127= Synonymous 3/3 - 1
11-128709758-GA-CC c.380_381delinsGG p.F127W Missense 3/3 - 1
11-128709759-AA-TC c.379_380delinsGA p.F127D Missense 3/3 - 1
11-128709759-A-T c.380T>A p.F127Y Missense 3/3 - 1
11-128709760-A-C c.379T>G p.F127V Missense 3/3 - 1
11-128709768-C-CA c.370_371insT p.G124Vfs*73 Frameshift 3/3 - 1
11-128709768-C-G c.371G>C p.G124A Missense 3/3 - 1
11-128709770-A-G c.369T>C p.I123= Synonymous 3/3 - 1
11-128709773-G-A c.366C>T p.T122= Synonymous 3/3 - 1
11-128709776-C-A c.363G>T p.V121= Synonymous 3/3 - 1
11-128709776-CAC-GTT c.361_363delinsAAC p.V121N Missense 3/3 - 1
11-128709776-C-G c.363G>C p.V121= Synonymous 3/3 - 1
11-128709776-C-T c.363G>A p.V121= Synonymous 3/3 - 1
11-128709777-AC-GA c.361_362delinsTC p.V121S Missense 3/3 - 1
11-128709777-AC-GT c.361_362inv p.V121T Missense 3/3 - 3
11-128709777-AC-TG c.361_362delinsCA p.V121Q Missense 3/3 - 1
11-128709783-G-A c.356C>T p.T119I Missense 3/3 - 2
11-128709791-A-C c.348T>G p.S116= Synonymous 3/3 - 1
11-128709791-A-G c.348T>C p.S116= Synonymous 3/3 - 1
11-128709791-A-T c.348T>A p.S116= Synonymous 3/3 - 1
11-128709792-G-C c.347C>G p.S116C Missense 3/3 - 1
11-128709793-A-G c.346T>C p.S116P Missense 3/3 - 1
11-128709796-A-C c.343T>G p.F115V Missense 3/3 - 1
11-128709796-A-G c.343T>C p.F115L Missense 3/3 - 1
11-128709799-G-A c.340C>T p.L114= Synonymous 3/3 - 2
11-128709800-A-C c.339T>G p.F113L Missense 3/3 - 2
11-128709800-A-T c.339T>A p.F113L Missense 3/3 - 2
11-128709802-A-G c.337T>C p.F113L Missense 3/3 - 3
11-128709802-A-T c.337T>A p.F113I Missense 3/3 - 1
11-128709810-G-A c.329C>T p.T110I Missense 3/3 - 2
11-128709810-GT-CA c.328_329delinsTG p.T110C Missense 3/3 - 1
11-128709813-A-G c.326T>C p.L109S Missense 3/3 - 1
11-128709812-C-T c.327G>A p.L109= Synonymous 3/3 - 2
11-128709814-A-G c.325T>C p.L109= Synonymous 3/3 - 2
11-128709817-C-T c.322G>A p.G108S Missense 3/3 - 2
11-128709819-T-A c.320A>T p.N107I Missense 3/3 - 1
11-128709824-A-T c.315T>A p.N105K Missense 3/3 - 1
11-128709824-ATT-CTC c.313_315delinsGAG p.N105E Missense 3/3 - 1
11-128709828-TC-GA c.310_311inv p.E104S Missense 3/3 - 3
11-128709828-T-G c.311A>C p.E104A Missense 3/3 - 1
11-128709830-C-A c.309G>T p.V103= Synonymous 3/3 - 1
11-128709830-CAC-ACA c.307_309delinsTGT p.V103C Missense 3/3 - 1
11-128709830-C-G c.309G>C p.V103= Synonymous 3/3 - 1
11-128709830-C-T c.309G>A p.V103= Synonymous 3/3 - 2
11-128709834-C-A c.305G>T p.C102F Missense 3/3 - 1
11-128709834-CA-GC c.304_305delinsGC p.C102A Missense 3/3 - 1
11-128709836-G-A c.303C>T p.P101= Synonymous 3/3 - 1
11-128709838-G-A c.301C>T p.P101S Missense 3/3 - 1
11-128709839-A-C c.300T>G p.T100= Synonymous 3/3 - 1
11-128709839-A-G c.300T>C p.T100= Synonymous 3/3 - 1
11-128709839-A-T c.300T>A p.T100= Synonymous 3/3 - 1
11-128709840-G-A c.299C>T p.T100I Missense 3/3 - 2
11-128709844-G-T c.295C>A p.H99N Missense 3/3 - 1
11-128709848-G-A c.291C>T p.A97= Synonymous 3/3 - 3
11-128709849-G-C c.290C>G p.A97G Missense 3/3 - 1
11-128709850-C-A c.289G>T p.A97S Missense 3/3 - 1
11-128709861-A-G c.278T>C p.F93S Missense 3/3 - 1
11-128709862-A-C c.277T>G p.F93V Missense 3/3 - 1
11-128709864-T-G c.275A>C p.E92A Missense 3/3 - 3
11-128709865-C-T c.274G>A p.E92K Missense 3/3 - 2
11-128709866-C-A c.273G>T p.P91= Synonymous 3/3 - 2
11-128709866-C-G c.273G>C p.P91= Synonymous 3/3 - 2
11-128709866-C-T c.273G>A p.P91= Synonymous 3/3 - 3
11-128709867-G-A c.272C>T p.P91L Missense 3/3 - 3
11-128709867-G-T c.272C>A p.P91Q Missense 3/3 - 4
11-128709869-G-A c.270C>T p.L90= Synonymous 3/3 - 1
11-128709872-G-A c.267C>T p.D89= Synonymous 3/3 - 2
11-128709872-G-C c.267C>G p.D89E Missense 3/3 - 1
11-128709872-G-T c.267C>A p.D89E Missense 3/3 - 1
11-128709874-C-G c.265G>C p.D89H Missense 3/3 - 1
11-128709874-C-T c.265G>A p.D89N Missense 3/3 - 2
11-128709877-T-C c.262A>G p.K88E Missense 3/3 - 1
11-128709879-T-C c.260A>G p.H87R Missense 3/3 - 2
11-128709883-T-C c.256A>G p.I86V Missense 3/3 - 1
11-128709887-C-A c.252G>T p.A84= Synonymous 3/3 - 1
11-128709887-C-G c.252G>C p.A84= Synonymous 3/3 - 1
11-128709887-C-T c.252G>A p.A84= Synonymous 3/3 - 1
11-128709888-G-A c.251C>T p.A84V Missense 3/3 - 1
11-128709892-C-T c.247G>A p.V83I Missense 3/3 - 1
11-128709893-TGC-AAA c.244_246delinsTTT p.A82F Missense 3/3 - 1
11-128709897-T-C c.242A>G p.Y81C Missense 3/3 - 1
11-128709899-C-A c.240G>T p.W80C Missense 3/3 - 1
11-128709899-C-G c.240G>C p.W80C Missense 3/3 - 1
11-128709901-A-G c.238T>C p.W80R Missense 3/3 - 1
11-128709906-A-G c.233T>C p.L78P Missense 3/3 - 1
11-128709909-CC-GT c.229_230delinsAC p.G77T Missense 3/3 - 1
11-128709909-C-T c.230G>A p.G77D Missense 3/3 - 1
11-128709910-C-G c.229G>C p.G77R Missense 3/3 - 3
11-128709910-C-T c.229G>A p.G77S Missense 3/3 - 1
11-128709915-A-G c.224T>C p.F75S Missense 3/3 - 1
11-128709914-G-C c.225C>G p.F75L Missense 3/3 - 2
11-128709914-G-T c.225C>A p.F75L Missense 3/3 - 1
11-128709916-A-G c.223T>C p.F75L Missense 3/3 - 1
11-128709917-AAA-CTC c.220_222delinsGAG p.F74E Missense 3/3 - 1
11-128709918-A-G c.221T>C p.F74S Missense 3/3 - 1
11-128709924-C-G c.215G>C p.S72T Missense 3/3 - 1
11-128709926-C-A c.213G>T p.G71= Synonymous 3/3 - 1
11-128709926-C-G c.213G>C p.G71= Synonymous 3/3 - 1
11-128709926-C-T c.213G>A p.G71= Synonymous 3/3 - 1
11-128709928-C-G c.211G>C p.G71R Missense 3/3 - 2
11-128709928-C-T c.211G>A p.G71R Missense 3/3 - 1
11-128709929-C-A c.210G>T p.L70F Missense 3/3 - 1
11-128709929-C-G c.210G>C p.L70F Missense 3/3 - 1
11-128709929-C-T c.210G>A p.L70= Synonymous 3/3 - 1
11-128709931-A-G c.208T>C p.L70= Synonymous 3/3 - 1
11-128709932-GA-G c.206del p.F69Sfs*15 Frameshift 3/3 - 1
11-128709937-C-A c.202G>T p.A68S Missense 3/3 - 1
11-128709940-T-C c.199A>G p.T67A Missense 3/3 - 5
11-128709942-A-G c.197T>C p.I66T Missense 3/3 - 1
11-128709942-A-T c.197T>A p.I66N Missense 3/3 - 5
11-128709946-A-T c.193T>A p.F65I Missense 3/3 - 5
11-128709953-C-A c.186G>T p.M62I Missense 3/3 - 1
11-128709956-TT-CA c.182_183delinsTG p.K61M Missense 3/3 - 9
11-128709958-T-C c.181A>G p.K61E Missense 3/3 - 1
11-128709959-G-C c.180C>G p.Y60* Nonsense 3/3 - 1
11-128709960-T-TCC c.178_179insGG p.Y60Wfs*4 Frameshift 3/3 - 1
11-128709962-T-A c.177A>T p.R59S Missense 3/3 - 1
11-128709962-T-G c.177A>C p.R59S Missense 3/3 - 1
11-128709964-T-C c.175A>G p.R59G Missense 3/3 - 1
11-128709968-CTT-ACA c.169_171delinsTGT p.K57C Missense 3/3 - 1
11-128709976-C-G c.163G>C p.D55H Missense 3/3 - 1
11-128709976-C-T c.163G>A p.D55N Missense 3/3 - 1
11-128709978-A-C c.161T>G p.L54R Missense 3/3 - 1
11-128709981-A-C c.158T>G p.V53G Missense 3/3 - 1
11-128709981-A-T c.158T>A p.V53E Missense 3/3 - 1
11-128709982-C-T c.157G>A p.V53I Missense 3/3 - 2
11-128709984-G-A c.155C>T p.T52M Missense 3/3 - 3
11-128709989-C-T c.150G>A p.W50* Nonsense 3/3 - 1
11-128709997-C-G c.142G>C p.D48H Missense 3/3 - 1
11-128709997-C-T c.142G>A p.D48N Missense 3/3 - 1
11-128710000-C-T c.139G>A p.V47M Missense 3/3 - 1
11-128710004-G-C c.135C>G p.F45L Missense 3/3 - 2
11-128710004-G-T c.135C>A p.F45L Missense 3/3 - 2
11-128710006-A-G c.133T>C p.F45L Missense 3/3 - 2
11-128710008-A-G c.131T>C p.I44T Missense 3/3 - 1
11-128710008-AT-GC c.130_131delinsGC p.I44A Missense 3/3 - 1
11-128710011-AA-GC c.127_128delinsGC p.F43A Missense 3/3 - 1
11-128710014-C-T c.125G>A p.R42K Missense 3/3 - 1
11-128710017-G-A c.122C>T p.S41L Missense 3/3 - 2
11-128710022-T-A c.117A>T p.A39= Synonymous 3/3 - 1
11-128710022-T-C c.117A>G p.A39= Synonymous 3/3 - 1
11-128710022-T-G c.117A>C p.A39= Synonymous 3/3 - 1
11-128710023-G-C c.116C>G p.A39G Missense 3/3 - 1
11-128710027-C-A c.112G>T p.E38* Nonsense 3/3 - 1
11-128710027-C-G c.112G>C p.E38Q Missense 3/3 - 1
11-128710028-C-T c.111G>A p.V37= Synonymous 3/3 - 1
11-128710029-A-G c.110T>C p.V37A Missense 3/3 - 1
11-128710040-TTC-ACA c.97_99delinsTGT p.E33C Missense 3/3 - 1
11-128710042-C-A c.97G>T p.E33* Nonsense 3/3 - 1
11-128710042-C-T c.97G>A p.E33K Missense 3/3 - 1
11-128710044-A-G c.95T>C p.I32T Missense 3/3 - 1
11-128710045-T-TA c.93_94insT p.I32Yfs*24 Frameshift 3/3 - 1
11-128710046-G-A c.93C>T p.N31= Synonymous 3/3 - 1
11-128710050-CA-AC c.88_89delinsGT p.C30V Missense 3/3 - 1
11-128710050-C-T c.89G>A p.C30Y Missense 3/3 - 5
11-128710051-A-G c.88T>C p.C30R Missense 3/3 - 1
11-128710052-CCT-ACA c.85_87delinsTGT p.R29C Missense 3/3 - 1
11-128710052-CCT-ATG c.85_87delinsCAT p.R29H Missense 3/3 - 1
11-128710053-C-T c.86G>A p.R29K Missense 3/3 - 1
11-128710056-C-G c.83G>C p.G28A Missense 3/3 - 4
11-128710056-C-T c.83G>A p.G28E Missense 3/3 - 2
11-128710060-C-T c.79G>A p.D27N Missense 3/3 - 1
11-128710061-T-A c.78A>T p.K26N Missense 3/3 - 1
11-128710061-T-G c.78A>C p.K26N Missense 3/3 - 1
11-128710062-T-C c.77A>G p.K26R Missense 3/3 - 1
11-128710064-G-A c.75C>T p.S25= Synonymous 3/3 - 1
11-128710064-G-C c.75C>G p.S25= Synonymous 3/3 - 1
11-128710064-G-T c.75C>A p.S25= Synonymous 3/3 - 1
11-128710065-GA-AT c.73_74delinsAT p.S25I Missense 3/3 - 1
11-128710065-GA-CG c.73_74delinsCG p.S25R Missense 3/3 - 1
11-128710067-G-A c.72C>T p.V24= Synonymous 3/3 - 2
11-128710069-C-G c.70G>C p.V24L Missense 3/3 - 1
11-128710074-C-A c.65G>T p.R22M Missense 3/3 - 1
11-128710076-T-A c.63A>T p.A21= Synonymous 3/3 - 1
11-128710076-T-C c.63A>G p.A21= Synonymous 3/3 - 1
11-128710076-T-G c.63A>C p.A21= Synonymous 3/3 - 2
11-128710080-C-T c.59G>A p.R20K Missense 3/3 - 2
11-128710083-T-C c.56A>G p.Q19R Missense 3/3 - 1
11-128710085-C-T c.54G>A p.R18= Synonymous 3/3 - 1
11-128710086-C-T c.53G>A p.R18Q Missense 3/3 - 1
11-128710087-G-T c.52C>A p.R18= Synonymous 3/3 - 1
11-128710089-G-A c.50C>T p.S17F Missense 3/3 - 1
11-128710090-A-T c.49T>A p.S17T Missense 3/3 - 1
11-128710098-AA-GC c.40_41delinsGC p.F14A Missense 3/3 - 1
11-128710101-A-C c.38T>G p.F13C Missense 3/3 - 1
11-128710103-GCG-CTT c.34_36delinsAAG p.R12K Missense 3/3 - 1
11-128710104-C-A c.35G>T p.R12L Missense 3/3 - 1
11-128710104-CG-GC c.34_35delinsGC p.R12A Missense 3/3 - 1
11-128710104-C-T c.35G>A p.R12H Missense 3/3 - 2
11-128710107-G-A c.32C>T p.T11I Missense 3/3 - 1
11-128710108-T-C c.31A>G p.T11A Missense 3/3 - 1
11-128710111-C-T c.28G>A p.V10I Missense 3/3 - 3
11-128710112-G-A c.27C>T p.V9= Synonymous 3/3 - 1
11-128710115-C-T c.24G>A p.W8* Nonsense 3/3 - 1
11-128710116-C-T c.23G>A p.W8* Nonsense 3/3 - 1
11-128710122-CG-TT c.16_17delinsAA p.R6K Missense 3/3 - 1
11-128710121-C-A c.18G>T p.R6= Synonymous 3/3 - 1
11-128710121-C-G c.18G>C p.R6= Synonymous 3/3 - 1
11-128710121-C-T c.18G>A p.R6= Synonymous 3/3 - 1
11-128710123-G-A c.16C>T p.R6W Missense 3/3 - 1
11-128710123-G-T c.16C>A p.R6= Synonymous 3/3 - 1
11-128710133-G-C c.6C>G p.F2L Missense 3/3 - 2
11-128710133-G-T c.6C>A p.F2L Missense 3/3 - 1
11-128710135-A-G c.4T>C p.F2L Missense 3/3 - 1
11-128710136-C-T c.3G>A p.M1? Missense 3/3 - 1
11-128710147-T-C c.-9A>G - 5-UTRSNV 3/3 - 1
11-128710153-C-A c.-15G>T - 5-UTRSNV 3/3 - 1
11-128710153-C-T c.-15G>A - 5-UTRSNV 3/3 - 1
11-128710156-T-C c.-18A>G - 5-UTRSNV 3/3 - 1
11-128710240-C-T c.-21-81G>A - IntronicSNV - 2/2 1
11-128711037-C-T c.-21-878G>A - IntronicSNV - 2/2 3
11-128712281-G-A c.-21-2122C>T - IntronicSNV - 2/2 1
11-128712282-T-C c.-21-2123A>G - IntronicSNV - 2/2 1
11-128712297-G-A c.-21-2138C>T - IntronicSNV - 2/2 1
11-128712348-G-A c.-21-2189C>T - IntronicSNV - 2/2 1
11-128712348-G-T c.-21-2189C>A - IntronicSNV - 2/2 1
11-128712475-C-T c.-21-2316G>A - IntronicSNV - 2/2 1
11-128712606-A-G c.-21-2447T>C - IntronicSNV - 2/2 1
11-128712606-A-T c.-21-2447T>A - IntronicSNV - 2/2 1
11-128712781-G-A c.-21-2622C>T - IntronicSNV - 2/2 2
11-128713844-C-A c.-21-3685G>T - IntronicSNV - 2/2 1
11-128725419-T-G c.-191-4634A>C - IntronicSNV - 1/2 1
11-128717518-T-C c.-22+3098A>G - intron_variant - 2/2 1
11-128720431-A-G c.-22+185T>C - intron_variant - 2/2 1
11-128725977-G-A c.-191-5192C>T - intron_variant - 1/2 1
11-128725977-G-T c.-191-5192C>A - intron_variant - 1/2 1
11-128726594-A-G c.-191-5809T>C - intron_variant - 1/2 2
11-128727001-T-C c.-191-6216A>G - intron_variant - 1/2 1
11-128728067-T-A c.-191-7282A>T - intron_variant - 1/2 1
11-128728067-T-G c.-191-7282A>C - intron_variant - 1/2 1
11-128729544-G-A c.-192+7524C>T - intron_variant - 1/2 3
11-128729845-A-C c.-192+7223T>G - intron_variant - 1/2 1
11-128730876-G-C c.-192+6192C>G - intron_variant - 1/2 2
11-128730955-A-C c.-192+6113T>G - intron_variant - 1/2 3
11-128732961-G-T c.-192+4107C>A - intron_variant - 1/2 3
11-128733314-C-A c.-192+3754G>T - intron_variant - 1/2 1
11-128734669-C-A c.-192+2399G>T - intron_variant - 1/2 2
11-128734669-C-G c.-192+2399G>C - intron_variant - 1/2 2
11-128734669-C-T c.-192+2399G>A - intron_variant - 1/2 2
11-128735396-G-A c.-192+1672C>T - intron_variant - 1/2 1
11-128735666-T-C c.-192+1402A>G - intron_variant - 1/2 2
11-128736280-C-A c.-192+788G>T - intron_variant - 1/2 1
11-128737154-C-T c.-278G>A - 5_prime_UTR_variant 1/3 - 2
11-128737188-A-G c.-312T>C - 5_prime_UTR_variant 1/3 - 4
11-128737188-A-T c.-312T>A - 5_prime_UTR_variant 1/3 - 4