CTSZ

CTSZ cathepsin Z

Annotation transcript: NM_001336.4

302 unique variant annotations were identified in 258 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
20-57570456-C-T c.*248G>A - 3-UTRSNV 6/6 - 7
20-57570568-G-A c.*136C>T - 3-UTRSNV 6/6 - 17
20-57570658-T-A c.*46A>T - 3-UTRSNV 6/6 - 1
20-57570658-T-C c.*46A>G - 3-UTRSNV 6/6 - 1
20-57570658-T-G c.*46A>C - 3-UTRSNV 6/6 - 1
20-57570714-G-A c.902C>T p.P301L Missense 6/6 - 1
20-57570714-G-T c.902C>A p.P301H Missense 6/6 - 2
20-57570715-G-A c.901C>T p.P301S Missense 6/6 - 1
20-57570716-G-T c.900C>A p.D300E Missense 6/6 - 1
20-57570720-C-T c.896G>A p.G299E Missense 6/6 - 1
20-57570728-A-T c.888T>A p.C296* Nonsense 6/6 - 1
20-57570737-CT-TA c.878_879delinsTA p.E293V Missense 6/6 - 1
20-57570739-C-T c.877G>A p.E293K Missense 6/6 - 2
20-57570740-G-A c.876C>T p.I292= Synonymous 6/6 - 1
20-57570749-G-C c.867C>G p.N289K Missense 6/6 - 5
20-57570749-G-T c.867C>A p.N289K Missense 6/6 - 4
20-57570760-C-T c.856G>A p.A286T Missense 6/6 - 9
20-57570761-G-A c.855C>T p.G285= Synonymous 6/6 - 2
20-57570761-G-C c.855C>G p.G285= Synonymous 6/6 - 1
20-57570761-G-T c.855C>A p.G285= Synonymous 6/6 - 1
20-57570764-C-T c.852G>A p.K284= Synonymous 6/6 - 1
20-57570765-T-C c.851A>G p.K284R Missense 6/6 - 1
20-57570773-C-T c.843G>A p.K281= Synonymous 6/6 - 1
20-57570780-G-A c.836C>T p.T279I Missense 6/6 - 3
20-57570790-C-T c.826G>A p.V276M Missense 6/6 - 2
20-57570791-G-A c.825C>T p.I275= Synonymous 6/6 - 1
20-57570794-C-A c.822G>T p.R274S Missense 6/6 - 2
20-57570794-C-T c.822G>A p.R274= Synonymous 6/6 - 1
20-57570797-C-A c.819G>T p.L273= Synonymous 6/6 - 1
20-57570797-C-G c.819G>C p.L273= Synonymous 6/6 - 1
20-57570797-C-T c.819G>A p.L273= Synonymous 6/6 - 2
20-57570799-G-A c.817C>T p.L273= Synonymous 6/6 - 1
20-57570804-C-T c.812G>A p.G271D Missense 6/6 - 1
20-57570804-CCT-C c.810_811del p.G271Lfs*10 Frameshift 6/6 - 1
20-57570812-G-A c.804C>T p.G268= Synonymous 6/6 - 1
20-57570812-G-C c.804C>G p.G268= Synonymous 6/6 - 1
20-57570812-G-T c.804C>A p.G268= Synonymous 6/6 - 1
20-57570813-C-A c.803G>T p.G268V Missense 6/6 - 1
20-57570854-G-A c.802-40C>T - IntronicSNV - 5/5 5
20-57570854-G-T c.802-40C>A - IntronicSNV - 5/5 5
20-57571651-G-GT c.801+42dup - IntronicInsertion - 5/5 1
20-57571687-A-G c.801+7T>C - IntronicSNV - 5/5 1
20-57571689-C-A c.801+5G>T - IntronicSNV - 5/5 1
20-57571698-G-A c.797C>T p.P266L Missense 5/6 - 1
20-57571698-G-T c.797C>A p.P266Q Missense 5/6 - 3
20-57571704-C-T c.791G>A p.G264D Missense 5/6 - 1
20-57571710-G-A c.785C>T p.S262L Missense 5/6 - 1
20-57571724-C-T c.771G>A p.W257* Nonsense 5/6 - 1
20-57571725-C-T c.770G>A p.W257* Nonsense 5/6 - 1
20-57571727-G-A c.768C>T p.Y256= Synonymous 5/6 - 1
20-57571730-C-A c.765G>T p.E255D Missense 5/6 - 1
20-57571730-C-G c.765G>C p.E255D Missense 5/6 - 1
20-57571732-C-T c.763G>A p.E255K Missense 5/6 - 1
20-57571743-C-A c.752G>T p.S251I Missense 5/6 - 1
20-57571753-A-C c.742T>G p.W248G Missense 5/6 - 1
20-57571757-AG-CT c.737_738inv p.A246E Missense 5/6 - 1
20-57571762-C-T c.733G>A p.V245M Missense 5/6 - 3
20-57571763-A-C c.732T>G p.S244= Synonymous 5/6 - 17
20-57571763-A-G c.732T>C p.S244= Synonymous 5/6 - 24
20-57571763-A-T c.732T>A p.S244= Synonymous 5/6 - 17
20-57571764-G-A c.731C>T p.S244F Missense 5/6 - 6
20-57571766-AAC-CAT c.727_729delinsATG p.V243M Missense 5/6 - 1
20-57571766-A-C c.729T>G p.V243= Synonymous 5/6 - 1
20-57571766-A-G c.729T>C p.V243= Synonymous 5/6 - 1
20-57571766-A-T c.729T>A p.V243= Synonymous 5/6 - 1
20-57571768-C-T c.727G>A p.V243I Missense 5/6 - 2
20-57571775-G-T c.720C>A p.N240K Missense 5/6 - 1
20-57571777-T-G c.718A>C p.N240H Missense 5/6 - 2
20-57571781-A-G c.714T>C p.Y238= Synonymous 5/6 - 1
20-57571777-TTA-T c.716_717del p.I239Kfs*13 Frameshift 5/6 - 1
20-57571788-G-A c.707C>T p.T236I Missense 5/6 - 1
20-57571799-T-C c.696A>G p.E232= Synonymous 5/6 - 1
20-57571801-C-T c.694G>A p.E232K Missense 5/6 - 1
20-57571808-G-A c.687C>T p.I229= Synonymous 5/6 - 1
20-57571811-G-A c.684C>T p.G228= Synonymous 5/6 - 2
20-57571813-C-G c.682G>C p.G228R Missense 5/6 - 1
20-57571816-C-T c.679G>A p.G227R Missense 5/6 - 2
20-57571818-G-A c.677C>T p.T226I Missense 5/6 - 1
20-57571818-G-C c.677C>G p.T226S Missense 5/6 - 1
20-57571822-A-G c.673T>C p.Y225H Missense 5/6 - 1
20-57571827-G-A c.668C>T p.A223V Missense 5/6 - 1
20-57571827-G-C c.668C>G p.A223G Missense 5/6 - 1
20-57571832-TCT-ACA c.661_663delinsTGT p.R221C Missense 5/6 - 2
20-57571832-TCT-CCA c.661_663delinsTGG p.R221W Missense 5/6 - 2
20-57571833-C-CT c.661dup p.R221Kfs*4 Frameshift 5/6 - 1
20-57571837-C-G c.658G>C p.E220Q Missense 5/6 - 1
20-57571840-T-G c.655A>C p.T219P Missense 5/6 - 1
20-57571843-C-T c.652G>A p.A218T Missense 5/6 - 1
20-57571849-T-C c.646A>G p.I216V Missense 5/6 - 1
20-57571949-C-G c.639-93G>C - IntronicSNV - 4/5 1
20-57571949-C-T c.639-93G>A - IntronicSNV - 4/5 1
20-57572614-T-C c.638+44A>G - IntronicSNV - 4/5 5
20-57572662-T-G c.634A>C p.I212L Missense 4/6 - 1
20-57572667-C-A c.629G>T p.G210V Missense 4/6 - 1
20-57572674-C-T c.622G>A p.A208T Missense 4/6 - 1
20-57572675-A-C c.621T>G p.Y207* Nonsense 4/6 - 5
20-57572675-A-G c.621T>C p.Y207= Synonymous 4/6 - 22
20-57572686-C-T c.610G>A p.A204T Missense 4/6 - 1
20-57572690-C-A c.606G>T p.M202I Missense 4/6 - 1
20-57572691-ATCT-A c.602_604del p.K201del InFrameDeletion 4/6 - 1
20-57572698-C-T c.598G>A p.E200K Missense 4/6 - 1
20-57572699-C-T c.597G>A p.R199= Synonymous 4/6 - 1
20-57572701-T-G c.595A>C p.R199= Synonymous 4/6 - 1
20-57572703-C-T c.593G>A p.G198E Missense 4/6 - 1
20-57572706-GA-CG c.589_590delinsCG p.S197R Missense 4/6 - 1
20-57572706-G-C c.590C>G p.S197C Missense 4/6 - 2
20-57572709-A-G c.587T>C p.L196P Missense 4/6 - 8
20-57572710-G-A c.586C>T p.L196F Missense 4/6 - 2
20-57572716-C-G c.580G>C p.G194R Missense 4/6 - 1
20-57572716-C-T c.580G>A p.G194S Missense 4/6 - 3
20-57572725-C-T c.571G>A p.G191R Missense 4/6 - 4
20-57572729-CCT-ACA c.565_567delinsTGT p.R189C Missense 4/6 - 1
20-57572729-CCT-ATG c.565_567delinsCAT p.R189H Missense 4/6 - 1
20-57572729-C-T c.567G>A p.R189= Synonymous 4/6 - 5
20-57572731-T-G c.565A>C p.R189= Synonymous 4/6 - 1
20-57572730-C-A c.566G>T p.R189M Missense 4/6 - 1
20-57572734-A-G c.562T>C p.W188R Missense 4/6 - 1
20-57572734-A-T c.562T>A p.W188R Missense 4/6 - 1
20-57572739-G-A c.557C>T p.T186I Missense 4/6 - 1
20-57572740-T-G c.556A>C p.T186P Missense 4/6 - 1
20-57572744-G-A c.552C>T p.N184= Synonymous 4/6 - 1
20-57572748-C-T c.548G>A p.R183Q Missense 4/6 - 5
20-57572747-C-A c.549G>T p.R183= Synonymous 4/6 - 1
20-57572747-C-G c.549G>C p.R183= Synonymous 4/6 - 1
20-57572747-C-T c.549G>A p.R183= Synonymous 4/6 - 1
20-57572749-G-A c.547C>T p.R183W Missense 4/6 - 2
20-57572749-G-T c.547C>A p.R183= Synonymous 4/6 - 1
20-57572755-C-A c.541G>T p.A181S Missense 4/6 - 1
20-57572755-C-T c.541G>A p.A181T Missense 4/6 - 1
20-57572757-T-C c.539A>G p.H180R Missense 4/6 - 1
20-57572758-G-A c.538C>T p.H180Y Missense 4/6 - 1
20-57572760-C-T c.536G>A p.C179Y Missense 4/6 - 1
20-57572770-A-C c.526T>G p.F176V Missense 4/6 - 1
20-57572771-T-A c.525A>T p.E175D Missense 4/6 - 1
20-57572771-T-G c.525A>C p.E175D Missense 4/6 - 1
20-57572773-C-A c.523G>T p.E175* Nonsense 4/6 - 2
20-57572773-C-T c.523G>A p.E175K Missense 4/6 - 1
20-57572776-T-C c.520A>G p.N174D Missense 4/6 - 3
20-57572781-G-A c.515C>T p.T172I Missense 4/6 - 1
20-57572785-C-A c.511G>T p.G171W Missense 4/6 - 1
20-57572803-C-T c.493G>A p.D165N Missense 4/6 - 1
20-57572839-G-T c.488-31C>A - IntronicSNV - 3/5 3
20-57574851-A-G c.487+1669T>C - IntronicSNV - 3/5 1
20-57575102-C-A c.487+1418G>T - IntronicSNV - 3/5 1
20-57575102-C-G c.487+1418G>C - IntronicSNV - 3/5 1
20-57575102-C-T c.487+1418G>A - IntronicSNV - 3/5 1
20-57575594-C-T c.487+926G>A - IntronicSNV - 3/5 1
20-57576347-C-A c.487+173G>T - IntronicSNV - 3/5 2
20-57576523-G-A c.484C>T p.Q162* Nonsense 3/6 - 1
20-57576523-G-T c.484C>A p.Q162K Missense 3/6 - 1
20-57576527-C-A c.480G>T p.K160N Missense 3/6 - 1
20-57576527-C-G c.480G>C p.K160N Missense 3/6 - 1
20-57576542-G-A c.465C>T p.N155= Synonymous 3/6 - 1
20-57576551-C-A c.456G>T p.E152D Missense 3/6 - 1
20-57576551-C-G c.456G>C p.E152D Missense 3/6 - 1
20-57576559-G-A c.448C>T p.P150S Missense 3/6 - 1
20-57576564-C-A c.443G>T p.G148V Missense 3/6 - 1
20-57576564-C-T c.443G>A p.G148D Missense 3/6 - 1
20-57576578-G-A c.429C>T p.Y143= Synonymous 3/6 - 1
20-57576578-G-C c.429C>G p.Y143* Nonsense 3/6 - 1
20-57576578-G-T c.429C>A p.Y143* Nonsense 3/6 - 2
20-57576583-C-T c.424G>A p.D142N Missense 3/6 - 1
20-57576589-C-T c.418G>A p.V140M Missense 3/6 - 4
20-57576590-G-A c.417C>T p.S139= Synonymous 3/6 - 1
20-57576599-A-G c.408T>C p.N136= Synonymous 3/6 - 1
20-57576606-C-G c.401G>C p.G134A Missense 3/6 - 1
20-57576610-C-T c.397G>A p.E133K Missense 3/6 - 1
20-57576612-C-A c.395G>T p.C132F Missense 3/6 - 2
20-57576621-G-A c.386C>T p.A129V Missense 3/6 - 4
20-57576621-GC-CG c.385_386delinsCG p.A129R Missense 3/6 - 1
20-57576621-G-T c.386C>A p.A129D Missense 3/6 - 1
20-57576622-C-T c.385G>A p.A129T Missense 3/6 - 1
20-57576623-G-A c.384C>T p.N128= Synonymous 3/6 - 1
20-57576628-C-G c.379G>C p.G127R Missense 3/6 - 1
20-57576630-C-T c.377G>A p.C126Y Missense 3/6 - 1
20-57576634-C-T c.373G>A p.D125N Missense 3/6 - 1
20-57576639-A-G c.368T>C p.V123A Missense 3/6 - 1
20-57576645-T-A c.362A>T p.Q121L Missense 3/6 - 4
20-57576646-G-A c.361C>T p.Q121* Nonsense 3/6 - 1
20-57576649-C-T c.358G>A p.V120M Missense 3/6 - 1
20-57576650-G-A c.357C>T p.S119= Synonymous 3/6 - 1
20-57576651-G-A c.356C>T p.S119F Missense 3/6 - 2
20-57576652-A-G c.355T>C p.S119P Missense 3/6 - 2
20-57576653-C-A c.354G>T p.L118= Synonymous 3/6 - 1
20-57576653-C-G c.354G>C p.L118= Synonymous 3/6 - 2
20-57576653-C-T c.354G>A p.L118= Synonymous 3/6 - 1
20-57576655-G-A c.352C>T p.L118= Synonymous 3/6 - 1
20-57576660-G-A c.347C>T p.T116I Missense 3/6 - 2
20-57576663-G-A c.344C>T p.S115F Missense 3/6 - 1
20-57576668-C-A c.339G>T p.W113C Missense 3/6 - 1
20-57576668-C-G c.339G>C p.W113C Missense 3/6 - 1
20-57576671-C-A c.336G>T p.A112= Synonymous 3/6 - 1
20-57576671-C-G c.336G>C p.A112= Synonymous 3/6 - 1
20-57576671-C-T c.336G>A p.A112= Synonymous 3/6 - 1
20-57576672-G-A c.335C>T p.A112V Missense 3/6 - 9
20-57576673-C-T c.334G>A p.A112T Missense 3/6 - 2
20-57576685-T-G c.322A>C p.K108Q Missense 3/6 - 1
20-57576690-T-C c.317A>G p.N106S Missense 3/6 - 1
20-57576694-T-C c.313A>G p.I105V Missense 3/6 - 1
20-57576696-C-T c.311G>A p.R104Q Missense 3/6 - 1
20-57576697-G-A c.310C>T p.R104W Missense 3/6 - 3
20-57576697-G-C c.310C>G p.R104G Missense 3/6 - 1
20-57576697-G-T c.310C>A p.R104= Synonymous 3/6 - 1
20-57577567-A-C c.308-868T>G - IntronicSNV - 2/5 1
20-57577567-A-G c.308-868T>C - IntronicSNV - 2/5 1
20-57578508-T-C c.308-1809A>G - IntronicSNV - 2/5 4
20-57578614-A-G c.308-1915T>C - IntronicSNV - 2/5 1
20-57579950-A-G c.307+1427T>C - IntronicSNV - 2/5 1
20-57579998-G-A c.307+1379C>T - IntronicSNV - 2/5 1
20-57580068-T-A c.307+1309A>T - IntronicSNV - 2/5 1
20-57580068-T-C c.307+1309A>G - IntronicSNV - 2/5 1
20-57581379-G-A c.305C>T p.A102V Missense 2/6 - 1
20-57581391-GT-CC c.292_293delinsGG p.T98G Missense 2/6 - 1
20-57581394-C-A c.290G>T p.S97I Missense 2/6 - 1
20-57581398-C-A c.286G>T p.A96S Missense 2/6 - 1
20-57581398-C-T c.286G>A p.A96T Missense 2/6 - 4
20-57581399-G-A c.285C>T p.H95= Synonymous 2/6 - 2
20-57581409-C-G c.275G>C p.C92S Missense 2/6 - 1
20-57581410-A-T c.274T>A p.C92S Missense 2/6 - 1
20-57581415-C-G c.269G>C p.G90A Missense 2/6 - 1
20-57581417-G-A c.267C>T p.C89= Synonymous 2/6 - 1
20-57581430-A-G c.254T>C p.I85T Missense 2/6 - 1
20-57581435-C-A c.249G>T p.Q83H Missense 2/6 - 2
20-57581435-C-G c.249G>C p.Q83H Missense 2/6 - 2
20-57581436-T-C c.248A>G p.Q83R Missense 2/6 - 1
20-57581438-G-A c.246C>T p.N82= Synonymous 2/6 - 2
20-57581442-CG-C c.241del p.R81Gfs*122 Frameshift 2/6 - 1
20-57581445-G-C c.239C>G p.T80S Missense 2/6 - 1
20-57581446-T-A c.238A>T p.T80S Missense 2/6 - 1
20-57581450-G-A c.234C>T p.S78= Synonymous 2/6 - 1
20-57581453-G-C c.231C>G p.A77= Synonymous 2/6 - 3
20-57581454-G-GC c.229dup p.A77Gfs*52 Frameshift 2/6 - 1
20-57581457-T-A c.227A>T p.Y76F Missense 2/6 - 1
20-57581463-A-G c.221T>C p.V74A Missense 2/6 - 1
20-57581470-C-G c.214G>C p.D72H Missense 2/6 - 1
20-57581478-C-T c.206G>A p.R69H Missense 2/6 - 1
20-57581482-A-G c.202T>C p.W68R Missense 2/6 - 1
20-57581482-A-T c.202T>A p.W68R Missense 2/6 - 2
20-57581485-C-T c.199G>A p.D67N Missense 2/6 - 1
20-57581487-C-T c.197G>A p.W66* Nonsense 2/6 - 4
20-57581492-C-T c.192G>A p.K64= Synonymous 2/6 - 1
20-57581500-G-A c.184C>T p.L62= Synonymous 2/6 - 1
20-57581505-G-C c.179C>G p.A60G Missense 2/6 - 1
20-57581509-G-C c.175C>G p.P59A Missense 2/6 - 1
20-57581510-G-A c.174C>T p.S58= Synonymous 2/6 - 1
20-57581510-G-C c.174C>G p.S58= Synonymous 2/6 - 1
20-57581510-G-T c.174C>A p.S58= Synonymous 2/6 - 1
20-57581516-G-C c.168C>G p.Y56* Nonsense 2/6 - 1
20-57581516-G-T c.168C>A p.Y56* Nonsense 2/6 - 1
20-57581517-T-C c.167A>G p.Y56C Missense 2/6 - 1
20-57581518-A-C c.166T>G p.Y56D Missense 2/6 - 1
20-57581519-C-T c.165G>A p.E55= Synonymous 2/6 - 1
20-57581528-CC-AT c.155_156delinsAT p.R52H Missense 2/6 - 1
20-57581530-G-A c.154C>T p.R52W Missense 2/6 - 2
20-57581531-G-T c.153C>A p.P51= Synonymous 2/6 - 1
20-57581532-G-A c.152C>T p.P51L Missense 2/6 - 3
20-57581533-G-C c.151C>G p.P51A Missense 2/6 - 1
20-57581539-T-C c.145A>G p.T49A Missense 2/6 - 1
20-57581541-C-G c.144-1G>C - IntronicSNV - 1/5 1
20-57582041-C-G c.143G>C p.S48T Missense 1/6 - 1
20-57582041-CT-GC c.142_143delinsGC p.S48A Missense 1/6 - 1
20-57582053-GG-TC c.130_131delinsGA p.P44E Missense 1/6 - 1
20-57582056-G-T c.128C>A p.A43D Missense 1/6 - 1
20-57582065-T-A c.119A>T p.D40V Missense 1/6 - 1
20-57582065-TC-AG c.118_119delinsCT p.D40L Missense 1/6 - 1
20-57582066-C-CA c.117_118insT p.D40* Nonsense 1/6 - 1
20-57582066-C-G c.118G>C p.D40H Missense 1/6 - 1
20-57582070-CC-AT c.113_114delinsAT p.R38H Missense 1/6 - 1
20-57582070-CCG-ACA c.112_114delinsTGT p.R38C Missense 1/6 - 1
20-57582073-C-G c.111G>C p.L37= Synonymous 1/6 - 1
20-57582075-G-C c.109C>G p.L37V Missense 1/6 - 1
20-57582078-G-A c.106C>T p.P36S Missense 1/6 - 2
20-57582079-CC-AT c.104_105delinsAT p.R35H Missense 1/6 - 1
20-57582080-C-T c.104G>A p.R35Q Missense 1/6 - 1
20-57582081-G-A c.103C>T p.R35W Missense 1/6 - 1
20-57582082-G-C c.102C>G p.Y34* Nonsense 1/6 - 1
20-57582086-CA-GC c.97_98delinsGC p.C33A Missense 1/6 - 1
20-57582094-T-A c.90A>T p.G30= Synonymous 1/6 - 1
20-57582094-T-C c.90A>G p.G30= Synonymous 1/6 - 1
20-57582094-T-G c.90A>C p.G30= Synonymous 1/6 - 1
20-57582114-C-A c.70G>T p.G24C Missense 1/6 - 1
20-57582121-C-A c.63G>T p.A21= Synonymous 1/6 - 2
20-57582121-C-G c.63G>C p.A21= Synonymous 1/6 - 2
20-57582121-C-T c.63G>A p.A21= Synonymous 1/6 - 2
20-57582122-G-C c.62C>G p.A21G Missense 1/6 - 1
20-57582124-CGC-AAA c.58_60delinsTTT p.A20F Missense 1/6 - 2
20-57582124-CG-GT c.59_60delinsAC p.A20D Missense 1/6 - 2
20-57582131-GC-TT c.52_53delinsAA p.A18K Missense 1/6 - 1
20-57582132-C-T c.52G>A p.A18T Missense 1/6 - 1
20-57582135-G-C c.49C>G p.L17V Missense 1/6 - 1
20-57582150-GA-G c.33del p.L12Cfs*191 Frameshift 1/6 - 1
20-57582158-C-G c.26G>C p.R9P Missense 1/6 - 1
20-57582158-CG-TT c.25_26delinsAA p.R9K Missense 1/6 - 1
20-57582173-C-A c.11G>T p.R4L Missense 1/6 - 1
20-57582279-T-TCGGCCC c.-102_-97dup - 5-UTRInsertion 1/6 - 1
20-57582279-T-TCGGCCCCGGCCCCGGCCTCGGCCC c.-97_-96insGGGCCGAGGCCGGGGCCGGGGCCG - 5-UTRInsertion 1/6 - 1
20-57582285-C-A c.-102G>T - 5-UTRSNV 1/6 - 1
20-57582285-C-CCGGCCCCGGCCT c.-103_-102insAGGCCGGGGCCG - 5-UTRInsertion 1/6 - 5
20-57582285-C-CCGGCCT c.-103_-102insAGGCCG - 5-UTRInsertion 1/6 - 5
20-57582285-C-CGGCCCCGGCCT c.-103_-102insAGGCCGGGGCC - 5-UTRInsertion 1/6 - 5
20-57582285-C-CGGCCT c.-103_-102insAGGCC - 5-UTRInsertion 1/6 - 5
20-57582285-C-T c.-102G>A - 5-UTRSNV 1/6 - 1