STN1

STN1 STN1 subunit of CST complex

Annotation transcript: NM_024928.5

389 unique variant annotations were identified in 614 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
10-105638232-T-A c.*4210A>T - 3-UTRSNV 10/10 - 5
10-105638232-T-C c.*4210A>G - 3-UTRSNV 10/10 - 5
10-105639241-A-G c.*3201T>C - 3-UTRSNV 10/10 - 2
10-105639421-G-A c.*3021C>T - 3-UTRSNV 10/10 - 7
10-105639514-T-A c.*2928A>T - 3-UTRSNV 10/10 - 7
10-105639514-T-G c.*2928A>C - 3-UTRSNV 10/10 - 7
10-105639611-T-C c.*2831A>G - 3-UTRSNV 10/10 - 6
10-105639808-C-T c.*2634G>A - 3-UTRSNV 10/10 - 1
10-105640978-C-T c.*1464G>A - 3-UTRSNV 10/10 - 5
10-105642449-G-A c.1100C>T p.A367V Missense 10/10 - 2
10-105642455-T-C c.1094A>G p.Y365C Missense 10/10 - 1
10-105642456-A-T c.1093T>A p.Y365N Missense 10/10 - 1
10-105642458-T-C c.1091A>G p.Y364C Missense 10/10 - 1
10-105642468-T-C c.1081A>G p.M361V Missense 10/10 - 1
10-105642476-A-G c.1073T>C p.V358A Missense 10/10 - 1
10-105642477-C-T c.1072G>A p.V358I Missense 10/10 - 2
10-105642487-C-A c.1062G>T p.Q354H Missense 10/10 - 1
10-105642487-C-G c.1062G>C p.Q354H Missense 10/10 - 2
10-105642505-C-A c.1044G>T p.L348= Synonymous 10/10 - 1
10-105642505-C-G c.1044G>C p.L348= Synonymous 10/10 - 1
10-105642505-C-T c.1044G>A p.L348= Synonymous 10/10 - 1
10-105642507-G-A c.1042C>T p.L348= Synonymous 10/10 - 1
10-105642528-C-T c.1021G>A p.E341K Missense 10/10 - 2
10-105642529-G-A c.1020C>T p.S340= Synonymous 10/10 - 1
10-105642537-C-T c.1012G>A p.G338S Missense 10/10 - 1
10-105642539-G-A c.1010C>T p.P337L Missense 10/10 - 6
10-105642549-TCAGGCGAGCA-T c.990_999del p.C330* Frameshift 10/10 - 1
10-105642555-G-A c.994C>T p.R332C Missense 10/10 - 1
10-105642557-G-T c.992C>A p.A331D Missense 10/10 - 1
10-105642559-A-T c.990T>A p.C330* Nonsense 10/10 - 2
10-105642562-G-A c.987C>T p.A329= Synonymous 10/10 - 1
10-105642562-G-C c.987C>G p.A329= Synonymous 10/10 - 1
10-105642562-G-T c.987C>A p.A329= Synonymous 10/10 - 2
10-105642564-C-G c.985G>C p.A329P Missense 10/10 - 1
10-105642569-A-G c.980T>C p.I327T Missense 10/10 - 1
10-105642572-T-G c.977A>C p.H326P Missense 10/10 - 1
10-105642576-G-T c.973C>A p.L325M Missense 10/10 - 2
10-105642577-G-A c.972C>T p.F324= Synonymous 10/10 - 3
10-105642584-C-T c.965G>A p.C322Y Missense 10/10 - 1
10-105642588-C-T c.961G>A p.G321S Missense 10/10 - 1
10-105642592-C-T c.957G>A p.E319= Synonymous 10/10 - 1
10-105642803-A-C c.950-204T>G - IntronicSNV - 9/9 2
10-105643134-G-A c.950-535C>T - IntronicSNV - 9/9 4
10-105644323-G-C c.950-1724C>G - IntronicSNV - 9/9 1
10-105644473-A-G c.950-1874T>C - IntronicSNV - 9/9 1
10-105644473-A-T c.950-1874T>A - IntronicSNV - 9/9 1
10-105644636-A-C c.950-2037T>G - IntronicSNV - 9/9 1
10-105644736-T-G c.950-2137A>C - IntronicSNV - 9/9 2
10-105645181-A-G c.950-2582T>C - IntronicSNV - 9/9 3
10-105645622-C-T c.950-3023G>A - IntronicSNV - 9/9 4
10-105645725-A-G c.949+3105T>C - IntronicSNV - 9/9 4
10-105647095-G-A c.949+1735C>T - IntronicSNV - 9/9 6
10-105647140-C-T c.949+1690G>A - IntronicSNV - 9/9 1
10-105647300-A-G c.949+1530T>C - IntronicSNV - 9/9 5
10-105648651-G-C c.949+179C>G - IntronicSNV - 9/9 2
10-105648686-G-A c.949+144C>T - IntronicSNV - 9/9 1
10-105648830-G-A c.949C>T p.H317Y Missense 9/10 - 9
10-105648836-G-A c.943C>T p.P315S Missense 9/10 - 4
10-105648844-C-A c.935G>T p.C312F Missense 9/10 - 1
10-105648845-A-G c.934T>C p.C312R Missense 9/10 - 1
10-105648849-C-T c.930G>A p.Q310= Synonymous 9/10 - 1
10-105648862-C-T c.917G>A p.R306Q Missense 9/10 - 1
10-105648863-G-A c.916C>T p.R306W Missense 9/10 - 1
10-105648867-G-A c.912C>T p.I304= Synonymous 9/10 - 1
10-105648867-G-C c.912C>G p.I304M Missense 9/10 - 4
10-105648868-A-T c.911T>A p.I304N Missense 9/10 - 2
10-105648878-G-A c.901C>T p.H301Y Missense 9/10 - 1
10-105648880-A-G c.899T>C p.L300P Missense 9/10 - 1
10-105648882-G-C c.897C>G p.D299E Missense 9/10 - 1
10-105648882-G-T c.897C>A p.D299E Missense 9/10 - 1
10-105648884-C-CA c.894_895insT p.D299* Nonsense 9/10 - 1
10-105648884-C-T c.895G>A p.D299N Missense 9/10 - 2
10-105648884-C-CT c.894dup p.D299Rfs*58 Frameshift 9/10 - 1
10-105648895-C-A c.884G>T p.R295I Missense 9/10 - 1
10-105648922-G-A c.877-20C>T - IntronicSNV - 8/9 1
10-105649158-G-A c.877-256C>T - IntronicSNV - 8/9 3
10-105649158-G-C c.877-256C>G - IntronicSNV - 8/9 3
10-105649752-C-A c.877-850G>T - IntronicSNV - 8/9 1
10-105649752-C-T c.877-850G>A - IntronicSNV - 8/9 1
10-105650626-G-C c.876+1262C>G - IntronicSNV - 8/9 1
10-105650626-G-T c.876+1262C>A - IntronicSNV - 8/9 1
10-105650782-C-T c.876+1106G>A - IntronicSNV - 8/9 1
10-105650837-T-C c.876+1051A>G - IntronicSNV - 8/9 1
10-105650880-T-A c.876+1008A>T - IntronicSNV - 8/9 1
10-105651386-T-C c.876+502A>G - IntronicSNV - 8/9 1
10-105651416-G-T c.876+472C>A - IntronicSNV - 8/9 1
10-105651657-G-T c.876+231C>A - IntronicSNV - 8/9 1
10-105651891-G-A c.873C>T p.Y291= Synonymous 8/10 - 2
10-105651892-T-C c.872A>G p.Y291C Missense 8/10 - 1
10-105651900-A-C c.864T>G p.D288E Missense 8/10 - 2
10-105651900-A-T c.864T>A p.D288E Missense 8/10 - 2
10-105651908-C-A c.856G>T p.G286C Missense 8/10 - 1
10-105651913-T-C c.851A>G p.D284G Missense 8/10 - 1
10-105651914-C-T c.850G>A p.D284N Missense 8/10 - 1
10-105651921-G-C c.843C>G p.F281L Missense 8/10 - 1
10-105651921-G-T c.843C>A p.F281L Missense 8/10 - 1
10-105651923-A-G c.841T>C p.F281L Missense 8/10 - 1
10-105651930-TC-T c.833del p.G278Dfs*16 Frameshift 8/10 - 2
10-105651932-C-G c.832G>C p.G278R Missense 8/10 - 1
10-105651932-C-T c.832G>A p.G278R Missense 8/10 - 3
10-105651932-CT-C c.831del p.G278Dfs*16 Frameshift 8/10 - 2
10-105651941-G-A c.823C>T p.Q275* Nonsense 8/10 - 1
10-105651953-T-A c.811A>T p.I271L Missense 8/10 - 1
10-105651953-T-G c.811A>C p.I271L Missense 8/10 - 1
10-105651955-G-A c.809C>T p.A270V Missense 8/10 - 1
10-105651964-A-C c.800T>G p.F267C Missense 8/10 - 2
10-105651967-A-G c.797T>C p.I266T Missense 8/10 - 1
10-105651976-A-C c.788T>G p.I263S Missense 8/10 - 1
10-105651987-AG-CT c.776_777inv p.T259K Missense 8/10 - 1
10-105651996-CT-GA c.767_768delinsTC p.K256I Missense 8/10 - 1
10-105652003-A-C c.761T>G p.F254C Missense 8/10 - 1
10-105652007-T-C c.757A>G p.N253D Missense 8/10 - 1
10-105654164-A-G c.754-2154T>C - IntronicSNV - 7/9 4
10-105654391-T-A c.754-2381A>T - IntronicSNV - 7/9 2
10-105654391-T-G c.754-2381A>C - IntronicSNV - 7/9 2
10-105655228-C-T c.753+2078G>A - IntronicSNV - 7/9 1
10-105656874-G-A c.753+432C>T - IntronicSNV - 7/9 2
10-105657070-C-G c.753+236G>C - IntronicSNV - 7/9 1
10-105657071-G-A c.753+235C>T - IntronicSNV - 7/9 1
10-105657071-G-GA c.753+234dup - IntronicInsertion - 7/9 1
10-105657254-T-C c.753+52A>G - IntronicSNV - 7/9 1
10-105657268-A-G c.753+38T>C - IntronicSNV - 7/9 1
10-105657273-A-G c.753+33T>C - IntronicSNV - 7/9 1
10-105657300-A-G c.753+6T>C - IntronicSNV - 7/9 1
10-105657311-C-T c.748G>A p.D250N Missense 7/10 - 1
10-105657312-G-A c.747C>T p.S249= Synonymous 7/10 - 2
10-105657313-GA-CC c.745_746delinsGG p.S249G Missense 7/10 - 2
10-105657314-A-C c.745T>G p.S249A Missense 7/10 - 1
10-105657315-G-A c.744C>T p.S248= Synonymous 7/10 - 1
10-105657315-G-C c.744C>G p.S248= Synonymous 7/10 - 1
10-105657315-G-T c.744C>A p.S248= Synonymous 7/10 - 1
10-105657316-GA-AT c.742_743delinsAT p.S248I Missense 7/10 - 1
10-105657316-G-C c.743C>G p.S248C Missense 7/10 - 49
10-105657316-G-T c.743C>A p.S248Y Missense 7/10 - 15
10-105657322-C-CT c.736dup p.S246Kfs*10 Frameshift 7/10 - 1
10-105657328-A-G c.731T>C p.I244T Missense 7/10 - 1
10-105657330-C-A c.729G>T p.V243= Synonymous 7/10 - 1
10-105657330-C-G c.729G>C p.V243= Synonymous 7/10 - 1
10-105657330-C-T c.729G>A p.V243= Synonymous 7/10 - 2
10-105657331-A-G c.728T>C p.V243A Missense 7/10 - 1
10-105657335-G-A c.724C>T p.P242S Missense 7/10 - 2
10-105657338-G-A c.721C>T p.Q241* Nonsense 7/10 - 1
10-105657347-G-A c.712C>T p.L238F Missense 7/10 - 6
10-105657352-A-G c.707T>C p.L236P Missense 7/10 - 2
10-105657356-A-T c.703T>A p.L235M Missense 7/10 - 1
10-105657357-A-G c.702T>C p.S234= Synonymous 7/10 - 1
10-105657358-G-A c.701C>T p.S234F Missense 7/10 - 2
10-105657360-C-A c.699G>T p.E233D Missense 7/10 - 1
10-105657363-C-A c.696G>T p.V232= Synonymous 7/10 - 1
10-105657363-C-G c.696G>C p.V232= Synonymous 7/10 - 15
10-105657363-C-T c.696G>A p.V232= Synonymous 7/10 - 13
10-105657364-A-G c.695T>C p.V232A Missense 7/10 - 1
10-105657365-C-A c.694G>T p.V232L Missense 7/10 - 1
10-105657366-C-T c.693G>A p.M231I Missense 7/10 - 3
10-105657373-A-T c.686T>A p.L229Q Missense 7/10 - 1
10-105657377-C-T c.682G>A p.E228K Missense 7/10 - 1
10-105657378-C-T c.681G>A p.Q227= Synonymous 7/10 - 1
10-105657381-C-A c.678G>T p.Q226H Missense 7/10 - 2
10-105657381-C-G c.678G>C p.Q226H Missense 7/10 - 2
10-105657388-A-C c.671T>G p.F224C Missense 7/10 - 5
10-105657388-A-G c.671T>C p.F224S Missense 7/10 - 1
10-105657400-C-G c.659G>C p.R220T Missense 7/10 - 1
10-105657403-TTC-T c.654_655del p.N219Qfs*36 Frameshift 7/10 - 1
10-105657407-C-T c.652G>A p.E218K Missense 7/10 - 1
10-105657412-A-T c.647T>A p.L216H Missense 7/10 - 1
10-105657418-T-C c.641A>G p.E214G Missense 7/10 - 1
10-105657427-T-C c.632A>G p.K211R Missense 7/10 - 1
10-105657440-A-C c.619T>G p.L207V Missense 7/10 - 1
10-105657445-G-A c.614C>T p.T205M Missense 7/10 - 2
10-105657461-C-A c.598G>T p.D200Y Missense 7/10 - 4
10-105657467-C-T c.592G>A p.A198T Missense 7/10 - 2
10-105657473-G-A c.586C>T p.P196S Missense 7/10 - 5
10-105657473-G-T c.586C>A p.P196T Missense 7/10 - 3
10-105657892-T-A c.582-415A>T - IntronicSNV - 6/9 1
10-105657892-T-C c.582-415A>G - IntronicSNV - 6/9 1
10-105658088-C-T c.581+547G>A - IntronicSNV - 6/9 2
10-105658588-G-C c.581+47C>G - IntronicSNV - 6/9 4
10-105658588-G-T c.581+47C>A - IntronicSNV - 6/9 3
10-105658633-A-G c.581+2T>C - IntronicSNV - 6/9 1
10-105658648-C-G c.568G>C p.E190Q Missense 6/10 - 1
10-105658649-T-C c.567A>G p.K189= Synonymous 6/10 - 1
10-105658655-T-G c.561A>C p.L187= Synonymous 6/10 - 1
10-105658658-G-A c.558C>T p.A186= Synonymous 6/10 - 1
10-105658658-G-C c.558C>G p.A186= Synonymous 6/10 - 1
10-105658658-G-T c.558C>A p.A186= Synonymous 6/10 - 1
10-105658661-T-C c.555A>G p.S185= Synonymous 6/10 - 1
10-105658666-T-C c.550A>G p.S184G Missense 6/10 - 1
10-105658669-G-A c.547C>T p.H183Y Missense 6/10 - 1
10-105658674-G-T c.542C>A p.P181H Missense 6/10 - 7
10-105658688-T-C c.528A>G p.K176= Synonymous 6/10 - 1
10-105658693-T-A c.523A>T p.R175W Missense 6/10 - 1
10-105658695-T-C c.521A>G p.Y174C Missense 6/10 - 2
10-105658698-A-T c.518T>A p.I173N Missense 6/10 - 1
10-105658700-A-G c.516T>C p.T172= Synonymous 6/10 - 1
10-105658701-G-A c.515C>T p.T172I Missense 6/10 - 1
10-105658702-T-C c.514A>G p.T172A Missense 6/10 - 1
10-105658707-AG-TA c.508_509delinsTA p.L170* Nonsense 6/10 - 1
10-105658711-C-T c.505G>A p.E169K Missense 6/10 - 2
10-105658712-A-G c.504T>C p.L168= Synonymous 6/10 - 1
10-105658716-AT-GC c.499_500delinsGC p.M167A Missense 6/10 - 1
10-105658720-T-C c.496A>G p.R166G Missense 6/10 - 2
10-105658722-G-C c.494C>G p.A165G Missense 6/10 - 1
10-105658725-AT-GC c.490_491delinsGC p.I164A Missense 6/10 - 1
10-105658729-G-A c.487C>T p.Q163* Nonsense 6/10 - 1
10-105658729-G-C c.487C>G p.Q163E Missense 6/10 - 3
10-105658734-T-A c.482A>T p.N161I Missense 6/10 - 1
10-105658744-G-A c.472C>T p.P158S Missense 6/10 - 1
10-105658747-C-A c.469G>T p.D157Y Missense 6/10 - 8
10-105658747-C-T c.469G>A p.D157N Missense 6/10 - 2
10-105658748-G-A c.468C>T p.D156= Synonymous 6/10 - 2
10-105659369-C-T c.457+451G>A - IntronicSNV - 5/9 1
10-105659788-C-T c.457+32G>A - IntronicSNV - 5/9 1
10-105659808-T-C c.457+12A>G - IntronicSNV - 5/9 1
10-105659823-A-T c.454T>A p.Y152N Missense 5/10 - 1
10-105659824-A-C c.453T>G p.T151= Synonymous 5/10 - 1
10-105659824-A-G c.453T>C p.T151= Synonymous 5/10 - 1
10-105659824-A-T c.453T>A p.T151= Synonymous 5/10 - 1
10-105659826-T-A c.451A>T p.T151S Missense 5/10 - 28
10-105659826-T-C c.451A>G p.T151A Missense 5/10 - 64
10-105659827-G-A c.450C>T p.T150= Synonymous 5/10 - 2
10-105659827-G-C c.450C>G p.T150= Synonymous 5/10 - 2
10-105659827-G-T c.450C>A p.T150= Synonymous 5/10 - 2
10-105659828-G-T c.449C>A p.T150N Missense 5/10 - 1
10-105659829-T-C c.448A>G p.T150A Missense 5/10 - 1
10-105659832-C-A c.445G>T p.A149S Missense 5/10 - 1
10-105659842-TCG-CCA c.433_435delinsTGG p.R145W Missense 5/10 - 1
10-105659845-C-T c.432G>A p.E144= Synonymous 5/10 - 1
10-105659852-CT-TG c.424_425delinsCA p.R142Q Missense 5/10 - 1
10-105659854-G-A c.423C>T p.Y141= Synonymous 5/10 - 1
10-105659855-T-A c.422A>T p.Y141F Missense 5/10 - 1
10-105659855-TA-GC c.421_422delinsGC p.Y141A Missense 5/10 - 3
10-105659858-G-T c.419C>A p.T140K Missense 5/10 - 1
10-105659861-C-A c.416G>T p.R139L Missense 5/10 - 2
10-105659861-C-T c.416G>A p.R139H Missense 5/10 - 4
10-105659866-A-G c.411T>C p.S137= Synonymous 5/10 - 1
10-105659867-C-T c.410G>A p.S137N Missense 5/10 - 1
10-105659870-C-T c.407G>A p.G136D Missense 5/10 - 1
10-105659871-C-T c.406G>A p.G136S Missense 5/10 - 1
10-105659872-TCT-CCA c.403_405delinsTGG p.R135W Missense 5/10 - 1
10-105659873-C-G c.404G>C p.R135T Missense 5/10 - 7
10-105659879-C-T c.398G>A p.R133Q Missense 5/10 - 1
10-105659880-G-A c.397C>T p.R133* Nonsense 5/10 - 1
10-105659881-G-A c.396C>T p.I132= Synonymous 5/10 - 1
10-105659884-C-A c.393G>T p.T131= Synonymous 5/10 - 1
10-105659884-C-G c.393G>C p.T131= Synonymous 5/10 - 1
10-105659884-C-T c.393G>A p.T131= Synonymous 5/10 - 1
10-105659885-G-A c.392C>T p.T131M Missense 5/10 - 3
10-105659889-C-T c.388G>A p.D130N Missense 5/10 - 6
10-105659892-C-G c.385G>C p.G129R Missense 5/10 - 1
10-105659892-C-T c.385G>A p.G129R Missense 5/10 - 1
10-105659895-T-A c.382A>T p.I128F Missense 5/10 - 1
10-105659896-C-T c.381G>A p.E127= Synonymous 5/10 - 1
10-105659916-C-T c.361G>A p.E121K Missense 5/10 - 4
10-105659917-A-G c.360T>C p.I120= Synonymous 5/10 - 1
10-105659917-A-T c.360T>A p.I120= Synonymous 5/10 - 1
10-105659925-C-A c.352G>T p.E118* Nonsense 5/10 - 1
10-105659928-GTAGCTTCT-G c.341_348del p.K114Tfs*5 Frameshift 5/10 - 1
10-105659933-T-C c.344A>G p.K115R Missense 5/10 - 1
10-105659937-T-C c.340A>G p.K114E Missense 5/10 - 1
10-105659944-TGA-GTC c.331_333delinsGAC p.S111D Missense 5/10 - 1
10-105659945-GA-TC c.331_332inv p.S111E Missense 5/10 - 1
10-105659946-A-C c.331T>G p.S111A Missense 5/10 - 2
10-105659954-CT-AA c.322_323delinsTT p.S108F Missense 5/10 - 1
10-105659958-G-A c.319C>T p.L107F Missense 5/10 - 1
10-105659972-C-G c.305G>C p.S102T Missense 5/10 - 1
10-105659972-C-T c.305G>A p.S102N Missense 5/10 - 1
10-105659979-C-A c.298G>T p.A100S Missense 5/10 - 1
10-105659979-C-T c.298G>A p.A100T Missense 5/10 - 1
10-105659988-T-C c.296-7A>G - IntronicSNV - 4/9 1
10-105661315-C-A c.296-1334G>T - IntronicSNV - 4/9 11
10-105661315-C-T c.296-1334G>A - IntronicSNV - 4/9 11
10-105664847-A-G c.295+2T>C - IntronicSNV - 4/9 1
10-105664852-A-C c.292T>G p.S98A Missense 4/10 - 1
10-105664854-A-G c.290T>C p.V97A Missense 4/10 - 2
10-105664857-G-A c.287C>T p.S96F Missense 4/10 - 2
10-105664857-GA-AC c.286_287delinsGT p.S96V Missense 4/10 - 4
10-105664858-A-C c.286T>G p.S96A Missense 4/10 - 2
10-105664860-T-C c.284A>G p.E95G Missense 4/10 - 9
10-105664864-T-C c.280A>G p.T94A Missense 4/10 - 2
10-105664878-CA-GC c.265_266delinsGC p.W89A Missense 4/10 - 3
10-105664878-C-T c.266G>A p.W89* Nonsense 4/10 - 1
10-105664881-C-T c.263G>A p.C88Y Missense 4/10 - 1
10-105664887-C-A c.257G>T p.C86F Missense 4/10 - 1
10-105664889-G-A c.255C>T p.N85= Synonymous 4/10 - 1
10-105664892-T-A c.252A>T p.I84= Synonymous 4/10 - 1
10-105664892-T-G c.252A>C p.I84= Synonymous 4/10 - 1
10-105664893-A-T c.251T>A p.I84K Missense 4/10 - 1
10-105664894-T-A c.250A>T p.I84L Missense 4/10 - 1
10-105664894-T-G c.250A>C p.I84L Missense 4/10 - 1
10-105664901-A-T c.243T>A p.T81= Synonymous 4/10 - 1
10-105664906-T-C c.238A>G p.S80G Missense 4/10 - 1
10-105664911-T-G c.233A>C p.D78A Missense 4/10 - 3
10-105666745-G-A c.230-1831C>T - IntronicSNV - 3/9 1
10-105667552-G-T c.230-2638C>A - IntronicSNV - 3/9 2
10-105668043-A-AG c.229+2241dup - IntronicInsertion - 3/9 1
10-105668172-C-G c.229+2113G>C - IntronicSNV - 3/9 1
10-105668172-C-T c.229+2113G>A - IntronicSNV - 3/9 1
10-105668179-C-CTT c.229+2104_229+2105dup - IntronicInsertion - 3/9 1
10-105668843-G-A c.229+1442C>T - IntronicSNV - 3/9 5
10-105669125-T-A c.229+1160A>T - IntronicSNV - 3/9 1
10-105669622-T-A c.229+663A>T - IntronicSNV - 3/9 6
10-105669622-T-C c.229+663A>G - IntronicSNV - 3/9 6
10-105670296-T-C c.218A>G p.Y73C Missense 3/10 - 1
10-105670297-A-G c.217T>C p.Y73H Missense 3/10 - 1
10-105670297-A-T c.217T>A p.Y73N Missense 3/10 - 1
10-105670298-G-A c.216C>T p.F72= Synonymous 3/10 - 1
10-105670298-G-C c.216C>G p.F72L Missense 3/10 - 1
10-105670298-G-T c.216C>A p.F72L Missense 3/10 - 1
10-105670300-A-G c.214T>C p.F72L Missense 3/10 - 1
10-105670304-CA-C c.210del p.D70Efs*15 Frameshift 3/10 - 1
10-105670304-ATC-A c.208_209del p.D70Cfs*9 Frameshift 3/10 - 1
10-105670312-C-A c.202G>T p.E68* Nonsense 3/10 - 3
10-105670313-TCT-ATG c.199_201delinsCAT p.R67H Missense 3/10 - 1
10-105670314-CT-TG c.199_200delinsCA p.R67Q Missense 3/10 - 1
10-105670320-C-G c.194G>C p.G65A Missense 3/10 - 4
10-105670327-C-A c.187G>T p.V63F Missense 3/10 - 1
10-105670330-T-C c.184A>G p.T62A Missense 3/10 - 1
10-105670345-C-T c.169G>A p.V57I Missense 3/10 - 1
10-105670352-T-C c.162A>G p.I54M Missense 3/10 - 1
10-105670355-T-A c.159A>T p.P53= Synonymous 3/10 - 1
10-105670355-T-C c.159A>G p.P53= Synonymous 3/10 - 1
10-105670355-T-G c.159A>C p.P53= Synonymous 3/10 - 1
10-105670355-TGG-AAA c.157_159delinsTTT p.P53F Missense 3/10 - 2
10-105670357-G-A c.157C>T p.P53S Missense 3/10 - 1
10-105670361-T-C c.153A>G p.G51= Synonymous 3/10 - 1
10-105670362-C-A c.152G>T p.G51V Missense 3/10 - 1
10-105670365-T-C c.149A>G p.N50S Missense 3/10 - 1
10-105670370-C-T c.144G>A p.L48= Synonymous 3/10 - 3
10-105670372-A-G c.142T>C p.L48= Synonymous 3/10 - 1
10-105670380-C-T c.134G>A p.G45D Missense 3/10 - 1
10-105670503-A-G c.134-123T>C - IntronicSNV - 2/9 3
10-105670702-C-T c.134-322G>A - IntronicSNV - 2/9 2
10-105670849-A-T c.134-469T>A - IntronicSNV - 2/9 1
10-105671109-T-C c.134-729A>G - IntronicSNV - 2/9 3
10-105671109-T-G c.134-729A>C - IntronicSNV - 2/9 3
10-105671132-A-G c.134-752T>C - IntronicSNV - 2/9 1
10-105671132-A-T c.134-752T>A - IntronicSNV - 2/9 1
10-105671527-T-C c.134-1147A>G - IntronicSNV - 2/9 2
10-105671804-T-C c.134-1424A>G - IntronicSNV - 2/9 1
10-105672842-G-A c.134-2462C>T - IntronicSNV - 2/9 28
10-105674854-A-G c.133+2366T>C - IntronicSNV - 2/9 5
10-105674854-A-T c.133+2366T>A - IntronicSNV - 2/9 5
10-105675605-C-T c.133+1615G>A - IntronicSNV - 2/9 1
10-105675946-T-C c.133+1274A>G - IntronicSNV - 2/9 41
10-105676465-C-A c.133+755G>T - IntronicSNV - 2/9 79
10-105676465-C-G c.133+755G>C - IntronicSNV - 2/9 79
10-105677017-A-C c.133+203T>G - IntronicSNV - 2/9 2
10-105677017-A-T c.133+203T>A - IntronicSNV - 2/9 2
10-105677226-C-A c.127G>T p.V43L Missense 2/10 - 1
10-105677232-G-T c.121C>A p.R41S Missense 2/10 - 1
10-105677245-G-C c.108C>G p.D36E Missense 2/10 - 1
10-105677245-G-T c.108C>A p.D36E Missense 2/10 - 2
10-105677249-A-C c.104T>G p.L35R Missense 2/10 - 1
10-105677249-AG-GC c.103_104delinsGC p.L35A Missense 2/10 - 1
10-105677256-C-T c.97G>A p.D33N Missense 2/10 - 2
10-105677267-A-T c.86T>A p.L29H Missense 2/10 - 1
10-105677270-TT-GC c.82_83delinsGC p.K28A Missense 2/10 - 1
10-105677271-T-C c.82A>G p.K28E Missense 2/10 - 1
10-105677272-TGC-CAT c.79_81delinsATG p.A27M Missense 2/10 - 1
10-105677273-G-GTT c.79_80insAA p.A27Efs*12 Frameshift 2/10 - 1
10-105677275-A-C c.78T>G p.F26L Missense 2/10 - 1
10-105677275-A-T c.78T>A p.F26L Missense 2/10 - 1
10-105677277-A-G c.76T>C p.F26L Missense 2/10 - 1
10-105677278-GGC-TTG c.73_75delinsCAA p.A25Q Missense 2/10 - 1
10-105677279-G-A c.74C>T p.A25V Missense 2/10 - 1
10-105677279-G-T c.74C>A p.A25D Missense 2/10 - 1
10-105677282-A-G c.71T>C p.L24P Missense 2/10 - 1
10-105677283-G-C c.70C>G p.L24V Missense 2/10 - 2
10-105677289-C-T c.64G>A p.V22M Missense 2/10 - 1
10-105677293-A-C c.60T>G p.D20E Missense 2/10 - 1
10-105677294-TC-GT c.58_59delinsAC p.D20T Missense 2/10 - 1
10-105677308-G-C c.45C>G p.L15= Synonymous 2/10 - 1
10-105677312-G-A c.41C>T p.S14F Missense 2/10 - 2
10-105677312-GA-AG c.40_41delinsCT p.S14L Missense 2/10 - 1
10-105677312-G-C c.41C>G p.S14C Missense 2/10 - 1
10-105677312-G-T c.41C>A p.S14Y Missense 2/10 - 1
10-105677316-G-C c.37C>G p.P13A Missense 2/10 - 2
10-105677321-T-C c.32A>G p.E11G Missense 2/10 - 2
10-105677325-C-T c.28G>A p.E10K Missense 2/10 - 4
10-105677328-C-A c.25G>T p.E9* Nonsense 2/10 - 3
10-105677333-C-A c.20G>T p.R7L Missense 2/10 - 1
10-105677344-A-C c.9T>G p.P3= Synonymous 2/10 - 1
10-105677344-A-G c.9T>C p.P3= Synonymous 2/10 - 1
10-105677344-A-T c.9T>A p.P3= Synonymous 2/10 - 1
10-105677347-C-T c.6G>A p.Q2= Synonymous 2/10 - 1
10-105677911-C-A c.-116G>T - IntronicSNV 1/10 - 3
10-105677911-C-T c.-116G>A - IntronicSNV 1/10 - 3
10-105677920-G-C c.-125C>G - IntronicSNV 1/10 - 1
10-105677897-A-C c.-102T>G - 5_prime_UTR_variant 1/10 - 39