ST3GAL3

ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3

Annotation transcript: NM_006279.5

496 unique variant annotations were identified in 264 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
1-44178070-T-G c.-31+4706T>G - intron_variant - 1/11 3
1-44182244-A-G c.-31+8880A>G - intron_variant - 1/11 1
1-44186812-A-G c.-31+13448A>G - intron_variant - 1/11 2
1-44186812-A-T c.-31+13448A>T - intron_variant - 1/11 2
1-44188465-A-C c.-30-13439A>C - IntronicSNV - 1/11 2
1-44188719-A-G c.-30-13185A>G - IntronicSNV - 1/11 6
1-44190215-G-A c.-30-11689G>A - IntronicSNV - 1/11 1
1-44194216-T-G c.-30-7688T>G - IntronicSNV - 1/11 2
1-44195353-T-C c.-30-6551T>C - IntronicSNV - 1/11 1
1-44197216-C-T c.-30-4688C>T - IntronicSNV - 1/11 1
1-44201936-GG-TT c.3_4delinsTT p.MG1_?2 MultiAAMissense 2/12 - 1
1-44201937-G-T c.4G>T p.G2* Nonsense 2/12 - 1
1-44201940-C-T c.7C>T p.L3F Missense 2/12 - 1
1-44201951-T-C c.18T>C p.F6= Synonymous 2/12 - 1
1-44201955-C-T c.22C>T p.R8C Missense 2/12 - 8
1-44201956-G-A c.23G>A p.R8H Missense 2/12 - 1
1-44201956-GC-AA c.23_24delinsAA p.R8Q Missense 2/12 - 1
1-44201961-C-G c.28C>G p.L10V Missense 2/12 - 1
1-44201970-GC-AA c.37_38delinsAA p.A13N Missense 2/12 - 1
1-44201971-C-A c.38C>A p.A13D Missense 2/12 - 7
1-44201973-C-T c.40C>T p.L14F Missense 2/12 - 1
1-44201980-TC-AA c.47_48delinsAA p.L16Q Missense 2/12 - 1
1-44201984-T-C c.51T>C p.F17= Synonymous 2/12 - 1
1-44201985-C-G c.52C>G p.L18V Missense 2/12 - 1
1-44201985-C-T c.52C>T p.L18= Synonymous 2/12 - 1
1-44201987-G-A c.54G>A p.L18= Synonymous 2/12 - 1
1-44201987-G-C c.54G>C p.L18= Synonymous 2/12 - 1
1-44201987-G-T c.54G>T p.L18= Synonymous 2/12 - 1
1-44201994-G-A c.61G>A p.G21R Missense 2/12 - 1
1-44201995-G-T c.62G>T p.G21V Missense 2/12 - 1
1-44201996-A-G c.63A>G p.G21= Synonymous 2/12 - 1
1-44202010-C-T c.77C>T p.S26F Missense 2/12 - 1
1-44202012-GCG-CAT c.79_81delinsCAT p.A27H Missense 2/12 - 1
1-44202012-GC-TG c.79_80delinsTG p.A27W Missense 2/12 - 1
1-44202014-G-A c.81G>A p.A27= Synonymous 2/12 - 2
1-44202021-C-G c.88C>G p.L30V Missense 2/12 - 2
1-44202021-C-T c.88C>T p.L30= Synonymous 2/12 - 1
1-44202023-A-C c.90A>C p.L30= Synonymous 2/12 - 1
1-44202023-A-G c.90A>G p.L30= Synonymous 2/12 - 1
1-44202023-A-T c.90A>T p.L30= Synonymous 2/12 - 1
1-44202035-G-A c.102G>A p.Q34= Synonymous 2/12 - 1
1-44202040-A-T c.107A>T p.E36V Missense 2/12 - 1
1-44202041-G-A c.108G>A p.E36= Synonymous 2/12 - 1
1-44202042-G-A c.109G>A p.E37K Missense 2/12 - 2
1-44202048-T-C c.115T>C p.S39P Missense 2/12 - 1
1-44202049-C-T c.116C>T p.S39F Missense 2/12 - 1
1-44202050-C-A c.117C>A p.S39= Synonymous 2/12 - 1
1-44202050-C-G c.117C>G p.S39= Synonymous 2/12 - 1
1-44202050-C-T c.117C>T p.S39= Synonymous 2/12 - 1
1-44202052-G-A c.118+1G>A - IntronicSNV - 2/11 1
1-44202061-G-C c.118+10G>C - IntronicSNV - 2/11 2
1-44202062-T-C c.118+11T>C - IntronicSNV - 2/11 1
1-44202067-C-T c.118+16C>T - IntronicSNV - 2/11 1
1-44202087-C-G c.118+36C>G - IntronicSNV - 2/11 1
1-44202087-C-T c.118+36C>T - IntronicSNV - 2/11 1
1-44202090-G-A c.118+39G>A - IntronicSNV - 2/11 1
1-44202090-G-T c.118+39G>T - IntronicSNV - 2/11 1
1-44209075-C-G c.118+7024C>G - IntronicSNV - 2/11 1
1-44209075-C-T c.118+7024C>T - IntronicSNV - 2/11 1
1-44209517-C-A c.118+7466C>A - IntronicSNV - 2/11 1
1-44209517-C-G c.118+7466C>G - IntronicSNV - 2/11 1
1-44209517-C-T c.118+7466C>T - IntronicSNV - 2/11 1
1-44213482-C-A c.118+11431C>A - IntronicSNV - 2/11 1
1-44214269-A-T c.118+12218A>T - IntronicSNV - 2/11 1
1-44215828-C-A c.118+13777C>A - IntronicSNV - 2/11 1
1-44215828-C-T c.118+13777C>T - IntronicSNV - 2/11 1
1-44215859-A-G c.118+13808A>G - IntronicSNV - 2/11 1
1-44223437-A-T c.118+21386A>T - IntronicSNV - 2/11 1
1-44223886-A-G c.118+21835A>G - IntronicSNV - 2/11 1
1-44229597-G-A c.118+27546G>A - IntronicSNV - 2/11 1
1-44231424-C-G c.119-26349C>G - IntronicSNV - 2/11 1
1-44243283-C-T c.119-14490C>T - IntronicSNV - 2/11 1
1-44246122-C-G c.119-11651C>G - IntronicSNV - 2/11 1
1-44247233-C-A c.119-10540C>A - IntronicSNV - 2/11 1
1-44247233-C-G c.119-10540C>G - IntronicSNV - 2/11 1
1-44248272-T-C c.119-9501T>C - IntronicSNV - 2/11 1
1-44253015-C-T c.119-4758C>T - IntronicSNV - 2/11 3
1-44254280-C-G c.119-3493C>G - IntronicSNV - 2/11 1
1-44254586-G-A c.119-3187G>A - IntronicSNV - 2/11 3
1-44256930-G-A c.119-843G>A - IntronicSNV - 2/11 1
1-44257648-G-C c.119-125G>C - IntronicSNV - 2/11 1
1-44257776-CA-GT c.122_123delinsGT p.S41C Missense 3/12 - 1
1-44257778-G-A c.124G>A p.V42M Missense 3/12 - 1
1-44257784-CT-AG c.130_131inv p.L44S Missense 3/12 - 1
1-44257788-C-T c.134C>T p.S45F Missense 3/12 - 2
1-44257790-T-G c.136T>G p.F46V Missense 3/12 - 1
1-44257797-C-T c.143C>T p.S48F Missense 3/12 - 1
1-44257798-C-CTGTGA c.144_145insTGTGA p.A49Cfs*7 Frameshift 3/12 - 1
1-44257799-G-A c.145G>A p.A49T Missense 3/12 - 1
1-44257799-G-GT c.145_146insT p.A49Vfs*10 Frameshift 3/12 - 1
1-44257799-G-T c.145G>T p.A49S Missense 3/12 - 1
1-44257803-G-T c.149G>T p.G50V Missense 3/12 - 1
1-44257811-C-T c.157C>T p.L53= Synonymous 3/12 - 1
1-44257814-G-C c.160G>C p.G54R Missense 3/12 - 1
1-44257820-G-A c.166G>A p.E56K Missense 3/12 - 2
1-44257962-G-A c.166+142G>A - IntronicSNV - 3/11 1
1-44258024-A-AGT c.166+206_166+207dup - IntronicInsertion - 3/11 1
1-44258040-A-G c.166+220A>G - IntronicSNV - 3/11 1
1-44275689-G-A c.167-4874G>A - IntronicSNV - 3/11 1
1-44275848-T-A c.167-4715T>A - IntronicSNV - 3/11 1
1-44280381-A-T c.167-182A>T - IntronicSNV - 3/11 5
1-44280425-T-G c.167-138T>G - IntronicSNV - 3/11 4
1-44280431-C-T c.167-132C>T - IntronicSNV - 3/11 1
1-44280432-G-A c.167-131G>A - IntronicSNV - 3/11 1
1-44280572-G-A c.176G>A p.R59Q Missense 4/12 - 2
1-44280580-T-G c.184T>G p.F62V Missense 4/12 - 1
1-44280588-G-T c.192G>T p.L64= Synonymous 4/12 - 1
1-44280595-G-A c.199G>A p.D67N Missense 4/12 - 1
1-44280598-T-C c.202T>C p.S68P Missense 4/12 - 1
1-44280602-AA-TG c.206_207delinsTG p.K69M Missense 4/12 - 1
1-44281948-G-A c.209+1343G>A - IntronicSNV - 4/11 1
1-44283497-T-C c.209+2892T>C - IntronicSNV - 4/11 1
1-44283548-C-T c.209+2943C>T - IntronicSNV - 4/11 1
1-44284778-C-T c.209+4173C>T - IntronicSNV - 4/11 3
1-44284859-C-A c.209+4254C>A - IntronicSNV - 4/11 1
1-44284859-C-G c.209+4254C>G - IntronicSNV - 4/11 1
1-44284859-C-T c.209+4254C>T - IntronicSNV - 4/11 1
1-44287148-C-T c.209+6543C>T - IntronicSNV - 4/11 1
1-44288364-C-G c.209+7759C>G - IntronicSNV - 4/11 2
1-44288364-C-T c.209+7759C>T - IntronicSNV - 4/11 2
1-44290407-C-T c.209+9802C>T - IntronicSNV - 4/11 1
1-44290409-G-A c.209+9804G>A - IntronicSNV - 4/11 1
1-44290419-T-C c.209+9814T>C - IntronicSNV - 4/11 1
1-44290423-C-T c.209+9818C>T - IntronicSNV - 4/11 1
1-44290450-T-C c.209+9845T>C - IntronicSNV - 4/11 1
1-44290458-C-A c.209+9853C>A - IntronicSNV - 4/11 1
1-44290458-C-G c.209+9853C>G - IntronicSNV - 4/11 1
1-44290480-T-C c.209+9875T>C - IntronicSNV - 4/11 1
1-44290495-A-C c.209+9890A>C - IntronicSNV - 4/11 1
1-44290495-A-G c.209+9890A>G - IntronicSNV - 4/11 1
1-44290497-C-G c.209+9892C>G - IntronicSNV - 4/11 1
1-44290530-A-G c.209+9925A>G - IntronicSNV - 4/11 19
1-44294411-C-A c.210-9480C>A - IntronicSNV - 4/11 1
1-44296439-C-G c.210-7452C>G - IntronicSNV - 4/11 1
1-44297573-A-C c.210-6318A>C - IntronicSNV - 4/11 1
1-44300249-A-G c.210-3642A>G - IntronicSNV - 4/11 1
1-44300249-A-T c.210-3642A>T - IntronicSNV - 4/11 1
1-44303266-A-G c.210-625A>G - IntronicSNV - 4/11 2
1-44303811-C-A c.210-80C>A - IntronicSNV - 4/11 1
1-44303900-A-G c.219A>G p.E73= Synonymous 5/12 - 2
1-44303901-T-C c.220T>C p.L74= Synonymous 5/12 - 2
1-44303903-A-G c.222A>G p.L74= Synonymous 5/12 - 1
1-44303907-A-C c.226A>C p.T76P Missense 5/12 - 1
1-44303909-C-CA c.230dup p.Y78Vfs*35 Frameshift 5/12 - 1
1-44303915-C-G c.234C>G p.Y78* Nonsense 5/12 - 1
1-44303916-G-A c.235G>A p.A79T Missense 5/12 - 1
1-44303925-T-A c.244T>A p.S82T Missense 5/12 - 1
1-44303925-T-C c.244T>C p.S82P Missense 5/12 - 1
1-44303926-C-T c.245C>T p.S82L Missense 5/12 - 1
1-44303930-G-A c.249G>A p.E83= Synonymous 5/12 - 2
1-44303931-G-A c.250G>A p.G84R Missense 5/12 - 1
1-44303934-G-A c.253G>A p.A85T Missense 5/12 - 2
1-44303938-G-A c.257G>A p.C86Y Missense 5/12 - 1
1-44303941-A-G c.260A>G p.K87R Missense 5/12 - 2
1-44303943-C-T c.262C>T p.P88S Missense 5/12 - 1
1-44303956-C-T c.275C>T p.S92L Missense 5/12 - 1
1-44303958-G-A c.277G>A p.A93T Missense 5/12 - 1
1-44303968-CG-TC c.287_288delinsTC p.T96I Missense 5/12 - 1
1-44303968-C-T c.287C>T p.T96M UnclassifiedSNV 5/12 - 3
1-44303969-G-A c.288G>A p.T96= Synonymous 5/12 - 1
1-44303969-G-C c.288G>C p.T96= Synonymous 5/12 - 1
1-44303969-G-T c.288G>T p.T96= Synonymous 5/12 - 1
1-44303970-G-A c.289G>A p.A97T Missense 5/12 - 1
1-44303971-C-T c.290C>T p.A97V Missense 5/12 - 1
1-44303973-A-G c.292A>G p.I98V Missense 5/12 - 1
1-44303976-T-C c.295T>C p.F99L Missense 5/12 - 1
1-44303978-C-A c.297C>A p.F99L Missense 5/12 - 1
1-44303978-C-G c.297C>G p.F99L Missense 5/12 - 1
1-44303980-C-G c.299C>G p.P100R Missense 5/12 - 1
1-44303980-C-T c.299C>T p.P100L Missense 5/12 - 1
1-44303981-C-A c.300C>A p.P100= Synonymous 5/12 - 1
1-44303982-CG-TA c.301_302delinsTA p.R101* Nonsense 5/12 - 1
1-44303982-C-T c.301C>T p.R101W Missense 5/12 - 4
1-44303983-G-A c.302G>A p.R101Q Missense 5/12 - 1
1-44304016-C-T c.302+33C>T - IntronicSNV - 5/11 1
1-44306120-A-G c.302+2137A>G - IntronicSNV - 5/11 1
1-44306422-C-T c.302+2439C>T - IntronicSNV - 5/11 1
1-44315491-G-C c.302+11508G>C - IntronicSNV - 5/11 1
1-44317545-C-T c.302+13562C>T - IntronicSNV - 5/11 1
1-44319373-G-A c.302+15390G>A - IntronicSNV - 5/11 6
1-44321306-A-C c.302+17323A>C - IntronicSNV - 5/11 1
1-44321306-A-T c.302+17323A>T - IntronicSNV - 5/11 1
1-44323736-T-C c.302+19753T>C - IntronicSNV - 5/11 5
1-44324060-G-A c.302+20077G>A - IntronicSNV - 5/11 3
1-44336389-G-A c.303-23666G>A - IntronicSNV - 5/11 1
1-44338575-A-C c.303-21480A>C - IntronicSNV - 5/11 3
1-44341619-C-A c.303-18436C>A - IntronicSNV - 5/11 1
1-44342975-C-T c.303-17080C>T - IntronicSNV - 5/11 1
1-44344796-T-C c.303-15259T>C - IntronicSNV - 5/11 6
1-44345292-G-A c.303-14763G>A - IntronicSNV - 5/11 1
1-44345841-G-C c.303-14214G>C - IntronicSNV - 5/11 1
1-44347856-C-T c.303-12199C>T - IntronicSNV - 5/11 1
1-44353237-G-A c.303-6818G>A - IntronicSNV - 5/11 1
1-44357654-C-T c.303-2401C>T - IntronicSNV - 5/11 1
1-44359894-C-G c.303-161C>G - IntronicSNV - 5/11 1
1-44360060-C-T c.308C>T p.S103F Missense 6/12 - 1
1-44360079-C-T c.327C>T p.F109= Synonymous 6/12 - 1
1-44360086-G-C c.334G>C p.D112H Missense 6/12 - 1
1-44360092-T-C c.340T>C p.F114L Missense 6/12 - 1
1-44360094-T-A c.342T>A p.F114L Missense 6/12 - 1
1-44360094-T-G c.342T>G p.F114L Missense 6/12 - 1
1-44360095-C-T c.343C>T p.R115C Missense 6/12 - 1
1-44360096-G-A c.344G>A p.R115H Missense 6/12 - 3
1-44360096-G-T c.344G>T p.R115L Missense 6/12 - 2
1-44360109-A-C c.357A>C p.R119S Missense 6/12 - 1
1-44360110-A-C c.358A>C p.I120L Missense 6/12 - 1
1-44360112-C-G c.360C>G p.I120M Missense 6/12 - 2
1-44360113-C-T c.361C>T p.R121W Missense 6/12 - 2
1-44360121-C-T c.369C>T p.F123= Synonymous 6/12 - 10
1-44360122-G-A c.370G>A p.V124M Missense 6/12 - 2
1-44360127-G-A c.375G>A p.P125= Synonymous 6/12 - 1
1-44360127-G-C c.375G>C p.P125= Synonymous 6/12 - 1
1-44360127-G-T c.375G>T p.P125= Synonymous 6/12 - 1
1-44360130-T-C c.378T>C p.P126= Synonymous 6/12 - 1
1-44360134-G-A c.382G>A p.G128R Missense 6/12 - 1
1-44360134-G-C c.382G>C p.G128R Missense 6/12 - 1
1-44360139-C-T c.387C>T p.I129= Synonymous 6/12 - 1
1-44360143-G-C c.391G>C p.G131R Missense 6/12 - 1
1-44363623-C-G c.398-284C>G - IntronicSNV - 6/11 1
1-44363710-T-A c.398-197T>A - IntronicSNV - 6/11 2
1-44363710-T-C c.398-197T>C - IntronicSNV - 6/11 2
1-44363907-A-G c.398A>G p.D133G Missense 7/12 - 1
1-44363909-A-G c.400A>G p.N134D Missense 7/12 - 1
1-44363909-A-T c.400A>T p.N134Y Missense 7/12 - 1
1-44363910-A-G c.401A>G p.N134S Missense 7/12 - 1
1-44363912-C-G c.403C>G p.L135V Missense 7/12 - 1
1-44363913-T-C c.404T>C p.L135P Missense 7/12 - 1
1-44363914-G-T c.405G>T p.L135= Synonymous 7/12 - 1
1-44363915-A-G c.406A>G p.I136V Missense 7/12 - 1
1-44363930-T-C c.421T>C p.S141P Missense 7/12 - 1
1-44363933-G-T c.424G>T p.V142F Missense 7/12 - 1
1-44363942-G-C c.433G>C p.E145Q UnclassifiedSNV 7/12 - 3
1-44363948-C-T c.439C>T p.R147C Missense 7/12 - 1
1-44363949-G-A c.440G>A p.R147H Missense 7/12 - 1
1-44363949-G-T c.440G>T p.R147L Missense 7/12 - 1
1-44363950-C-G c.441C>G p.R147= Synonymous 7/12 - 1
1-44363950-C-T c.441C>T p.R147= Synonymous 7/12 - 1
1-44363951-C-T c.442C>T p.L148= Synonymous 7/12 - 1
1-44363953-G-A c.444G>A p.L148= Synonymous 7/12 - 2
1-44363953-G-C c.444G>C p.L148= Synonymous 7/12 - 1
1-44363953-G-T c.444G>T p.L148= Synonymous 7/12 - 1
1-44363958-C-T c.449C>T p.P150L Missense 7/12 - 1
1-44363959-T-A c.450T>A p.P150= Synonymous 7/12 - 1
1-44363959-T-C c.450T>C p.P150= Synonymous 7/12 - 1
1-44363959-T-G c.450T>G p.P150= Synonymous 7/12 - 1
1-44363960-G-A c.451G>A p.A151T Missense 7/12 - 1
1-44363961-C-T c.452C>T p.A151V Missense 7/12 - 2
1-44363970-G-C c.461G>C p.S154T Missense 7/12 - 1
1-44364844-C-G c.466C>G p.R156G Missense 8/12 - 1
1-44364847-TG-AC c.469_470delinsAC p.C157T Missense 8/12 - 1
1-44364850-CG-AC c.472_473delinsAC p.R158T Missense 8/12 - 1
1-44364850-C-T c.472C>T p.R158C Missense 8/12 - 1
1-44364851-G-A c.473G>A p.R158H Missense 8/12 - 2
1-44364853-CGC-TGG c.475_477delinsTGG p.R159W Missense 8/12 - 1
1-44364853-C-T c.475C>T p.R159C Missense 8/12 - 1
1-44364854-G-A c.476G>A p.R159H Missense 8/12 - 1
1-44364855-C-A c.477C>A p.R159= Synonymous 8/12 - 1
1-44364855-C-G c.477C>G p.R159= Synonymous 8/12 - 1
1-44364855-C-T c.477C>T p.R159= Synonymous 8/12 - 2
1-44364858-C-T c.480C>T p.C160C UnclassifiedSNV 8/12 - 1
1-44364861-C-A c.483C>A p.I161= Synonymous 8/12 - 1
1-44364861-C-T c.483C>T p.I161= Synonymous 8/12 - 1
1-44364864-C-T c.486C>T p.I162= Synonymous 8/12 - 1
1-44364865-G-A c.487G>A p.V163M Missense 8/12 - 1
1-44364871-A-G c.493A>G p.N165D Missense 8/12 - 1
1-44364883-C-T c.505C>T p.L169F Missense 8/12 - 1
1-44364884-T-C c.506T>C p.L169P Missense 8/12 - 1
1-44364891-C-G c.513C>G p.N171K Missense 8/12 - 1
1-44364896-C-T c.518C>T p.S173F UnclassifiedSNV 8/12 - 4
1-44364897-T-C c.519T>C p.S173= Synonymous 8/12 - 1
1-44364901-G-A c.523G>A p.G175R Missense 8/12 - 1
1-44364901-G-C c.523G>C p.G175R Missense 8/12 - 1
1-44364901-GGG-TGT c.523_525delinsTGT p.G175C Missense 8/12 - 1
1-44364906-A-C c.528A>C p.S176= Synonymous 8/12 - 2
1-44364906-A-G c.528A>G p.S176= Synonymous 8/12 - 2
1-44364906-A-T c.528A>T p.S176= Synonymous 8/12 - 2
1-44364908-G-A c.530G>A p.R177Q Missense 8/12 - 1
1-44364909-A-T c.531A>T p.R177= Synonymous 8/12 - 1
1-44364913-G-A c.535G>A p.D179N Missense 8/12 - 1
1-44364914-A-G c.536A>G p.D179G Missense 8/12 - 1
1-44364917-A-G c.539A>G p.D180G Missense 8/12 - 3
1-44364921-T-C c.543T>C p.Y181= Synonymous 8/12 - 1
1-44364926-T-C c.548T>C p.I183T Missense 8/12 - 1
1-44364928-G-A c.550G>A p.V184M Missense 8/12 - 1
1-44364940-G-A c.557+5G>A - IntronicSNV - 8/11 1
1-44364980-A-G c.557+45A>G - IntronicSNV - 8/11 1
1-44365224-C-T c.569C>T p.A190V Missense 9/12 - 1
1-44365226-C-T c.571C>T p.P191S Missense 9/12 - 1
1-44365228-A-C c.573A>C p.P191= Synonymous 9/12 - 1
1-44365228-A-G c.573A>G p.P191= Synonymous 9/12 - 1
1-44365228-A-T c.573A>T p.P191= Synonymous 9/12 - 1
1-44365240-T-C c.585T>C p.F195= Synonymous 9/12 - 1
1-44365241-G-A c.586G>A p.E196K Missense 9/12 - 2
1-44365248-A-T c.593A>T p.D198V Missense 9/12 - 1
1-44365249-C-T c.594C>T p.D198= Synonymous 9/12 - 1
1-44365250-G-A c.595G>A p.V199M Missense 9/12 - 1
1-44365250-G-C c.595G>C p.V199L Missense 9/12 - 1
1-44365253-G-T c.598G>T p.G200C Missense 9/12 - 1
1-44365255-C-A c.600C>A p.G200= Synonymous 9/12 - 1
1-44365255-C-G c.600C>G p.G200= Synonymous 9/12 - 1
1-44365255-C-T c.600C>T p.G200= Synonymous 9/12 - 1
1-44365257-G-A c.602G>A p.S201N Missense 9/12 - 1
1-44365256-A-C c.601A>C p.S201R Missense 9/12 - 1
1-44365258-C-A c.603C>A p.S201R Missense 9/12 - 1
1-44365258-C-G c.603C>G p.S201R Missense 9/12 - 1
1-44365263-C-T c.608C>T p.T203M Missense 9/12 - 2
1-44365264-G-A c.609G>A p.T203= Synonymous 9/12 - 1
1-44365272-G-A c.617G>A p.R206H Missense 9/12 - 1
1-44365273-C-T c.618C>T p.R206= Synonymous 9/12 - 1
1-44365276-C-G c.621C>G p.I207M Missense 9/12 - 1
1-44365278-C-A c.623C>A p.T208N Missense 9/12 - 1
1-44365284-C-A c.629C>A p.P210H Missense 9/12 - 3
1-44365284-C-T c.629C>T p.P210L Missense 9/12 - 1
1-44365286-G-A c.631G>A p.E211K Missense 9/12 - 1
1-44365291-C-A c.636C>A p.G212= Synonymous 9/12 - 1
1-44365293-C-T c.638C>T p.A213V Missense 9/12 - 3
1-44365302-GG-AT c.647_648delinsAT p.R216H Missense 9/12 - 1
1-44365304-C-T c.649C>T p.P217S Missense 9/12 - 1
1-44365306-T-A c.651T>A p.P217= Synonymous 9/12 - 1
1-44365306-T-C c.651T>C p.P217= Synonymous 9/12 - 1
1-44365306-T-G c.651T>G p.P217= Synonymous 9/12 - 1
1-44365307-G-A c.652G>A p.E218K Missense 9/12 - 1
1-44365307-G-C c.652G>C p.E218Q Missense 9/12 - 1
1-44365310-C-G c.655C>G p.Q219E Missense 9/12 - 1
1-44365312-G-A c.657G>A p.Q219= Synonymous 9/12 - 1
1-44365315-C-A c.660C>A p.Y220* Nonsense 9/12 - 1
1-44365315-C-T c.660C>T p.Y220= Synonymous 9/12 - 2
1-44365316-G-A c.661G>A p.E221K Missense 9/12 - 1
1-44365320-G-A c.665G>A p.R222H Missense 9/12 - 1
1-44365321-C-A c.666C>A p.R222= Synonymous 9/12 - 1
1-44365321-C-G c.666C>G p.R222= Synonymous 9/12 - 1
1-44365321-C-T c.666C>T p.R222= Synonymous 9/12 - 1
1-44365322-G-A c.667G>A p.D223N Missense 9/12 - 1
1-44365323-A-G c.668A>G p.D223G Missense 9/12 - 1
1-44365326-C-A c.671C>A p.S224Y UnclassifiedSNV 9/12 - 3
1-44365339-C-A c.684C>A p.L228= Synonymous 9/12 - 1
1-44365339-C-G c.684C>G p.L228= Synonymous 9/12 - 1
1-44365339-C-T c.684C>T p.L228= Synonymous 9/12 - 3
1-44365340-G-A c.685G>A p.A229T Missense 9/12 - 1
1-44365341-C-T c.686C>T p.A229V Missense 9/12 - 1
1-44365342-C-T c.687C>T p.A229= Synonymous 9/12 - 2
1-44365345-C-G c.690C>G p.G230= Synonymous 9/12 - 1
1-44365346-T-A c.691T>A p.F231I Missense 9/12 - 1
1-44365348-C-T c.693C>T p.F231= Synonymous 9/12 - 1
1-44365350-A-G c.695A>G p.K232R Missense 9/12 - 1
1-44365360-C-A c.705C>A p.D235E Missense 9/12 - 1
1-44365360-C-G c.705C>G p.D235E Missense 9/12 - 1
1-44365365-A-G c.710A>G p.K237R Missense 9/12 - 1
1-44365370-T-C c.715T>C p.L239= Synonymous 9/12 - 1
1-44365372-G-A c.717G>A p.L239= Synonymous 9/12 - 1
1-44365381-C-T c.726C>T p.I242= Synonymous 9/12 - 1
1-44365386-A-C c.731A>C p.Y244S Missense 9/12 - 1
1-44365391-G-A c.736G>A p.E246K Missense 9/12 - 2
1-44365457-A-G c.744+58A>G - IntronicSNV - 9/11 5
1-44365529-G-A c.744+130G>A - IntronicSNV - 9/11 6
1-44366341-A-G c.744+942A>G - IntronicSNV - 9/11 1
1-44366617-C-T c.744+1218C>T - IntronicSNV - 9/11 1
1-44366671-C-T c.744+1272C>T - IntronicSNV - 9/11 1
1-44366673-C-G c.744+1274C>G - IntronicSNV - 9/11 1
1-44369009-C-T c.744+3610C>T - IntronicSNV - 9/11 1
1-44369444-G-A c.744+4045G>A - IntronicSNV - 9/11 1
1-44370467-C-T c.744+5068C>T - IntronicSNV - 9/11 2
1-44371441-T-C c.744+6042T>C - IntronicSNV - 9/11 3
1-44373409-A-G c.744+8010A>G - IntronicSNV - 9/11 1
1-44378612-G-T c.745-7464G>T - IntronicSNV - 9/11 1
1-44381847-T-C c.745-4229T>C - IntronicSNV - 9/11 1
1-44386079-G-C c.748G>C p.A250P Missense 10/12 - 2
1-44386083-C-T c.752C>T p.S251L Missense 10/12 - 1
1-44386089-G-C c.758G>C p.G253A Missense 10/12 - 2
1-44386093-C-T c.762C>T p.F254= Synonymous 10/12 - 2
1-44386100-TC-CT c.769_770delinsCT p.S257L Missense 10/12 - 1
1-44386102-T-C c.771T>C p.S257= Synonymous 10/12 - 1
1-44386104-TG-AC c.773_774delinsAC p.V258D Missense 10/12 - 1
1-44386107-C-T c.776C>T p.A259V Missense 10/12 - 1
1-44386109-A-G c.778A>G p.T260A Missense 10/12 - 1
1-44386110-C-T c.779C>T p.T260I Missense 10/12 - 1
1-44386112-C-T c.781C>T p.R261* Nonsense 10/12 - 1
1-44386118-C-T c.787C>T p.P263S Missense 10/12 - 1
1-44386124-G-T c.793G>T p.E265* Nonsense 10/12 - 1
1-44386127-C-T c.796C>T p.P266S Missense 10/12 - 1
1-44386128-C-T c.797C>T p.P266L Missense 10/12 - 1
1-44386129-C-T c.798C>T p.P266= Synonymous 10/12 - 1
1-44386130-C-T c.799C>T p.P267S Missense 10/12 - 1
1-44386136-A-T c.805A>T p.I269F Missense 10/12 - 1
1-44386140-G-A c.809G>A p.R270Q Missense 10/12 - 1
1-44386147-C-A c.816C>A p.L272= Synonymous 10/12 - 1
1-44386147-C-G c.816C>G p.L272= Synonymous 10/12 - 1
1-44386147-C-T c.816C>T p.L272= Synonymous 10/12 - 1
1-44386151-C-T c.820C>T p.P274S Missense 10/12 - 1
1-44386159-C-T c.828C>T p.F276= Synonymous 10/12 - 2
1-44386165-G-C c.834G>C p.Q278H Missense 10/12 - 2
1-44386165-G-T c.834G>T p.Q278H Missense 10/12 - 2
1-44386169-G-A c.838G>A p.A280T Missense 10/12 - 1
1-44386172-G-A c.841G>A p.A281T Missense 10/12 - 2
1-44386172-G-T c.841G>T p.A281S Missense 10/12 - 2
1-44386174-C-T c.843C>T p.A281= Synonymous 10/12 - 1
1-44386177-C-T c.846C>T p.F282= Synonymous 10/12 - 1
1-44386181-C-T c.850C>T p.L284F Missense 10/12 - 1
1-44386187-G-A c.856G>A p.G286S Missense 10/12 - 1
1-44386195-C-T c.864C>T p.P288= Synonymous 10/12 - 1
1-44386198-C-T c.867C>T p.F289= Synonymous 10/12 - 1
1-44386208-C-A c.877C>A p.L293I Missense 10/12 - 1
1-44386213-G-T c.882G>T p.M294I Missense 10/12 - 1
1-44386216-C-A c.885C>A p.G295= Synonymous 10/12 - 1
1-44386216-C-G c.885C>G p.G295= Synonymous 10/12 - 1
1-44386216-C-T c.885C>T p.G295= Synonymous 10/12 - 1
1-44386217-C-T c.886C>T p.R296W Missense 10/12 - 2
1-44386218-G-A c.887G>A p.R296Q Missense 10/12 - 3
1-44386218-G-C c.887G>C p.R296P Missense 10/12 - 2
1-44386219-G-A c.888G>A p.R296= Synonymous 10/12 - 1
1-44386220-G-A c.889G>A p.G297R Missense 10/12 - 1
1-44386220-G-T c.889G>T p.G297W Missense 10/12 - 2
1-44386221-G-A c.890G>A p.G297E Missense 10/12 - 1
1-44386221-G-C c.890G>C p.G297A Missense 10/12 - 1
1-44386217-C-CG c.891+1dup - SpliceDonorInsertion - 10/11 1
1-44386217-CG-C c.891+1del - IntronicDeletion - 10/11 1
1-44386305-C-G c.891+83C>G - IntronicSNV - 10/11 5
1-44386305-C-T c.891+83C>T - IntronicSNV - 10/11 7
1-44386456-C-T c.894C>T p.N298= Synonymous 11/12 - 1
1-44386459-C-A c.897C>A p.I299= Synonymous 11/12 - 1
1-44386459-C-T c.897C>T p.I299= Synonymous 11/12 - 2
1-44386475-GTG-ATC c.913_915delinsATC p.V305I Missense 11/12 - 1
1-44386476-T-C c.914T>C p.V305A Missense 11/12 - 1
1-44386485-C-T c.923C>T p.T308I Missense 11/12 - 1
1-44386498-C-T c.936C>T p.H312= Synonymous 11/12 - 1
1-44386499-G-A c.937G>A p.G313S Missense 11/12 - 1
1-44386507-C-A c.945C>A p.D315E Missense 11/12 - 1
1-44386508-G-A c.946G>A p.E316K Missense 11/12 - 1
1-44386509-A-G c.947A>G p.E316G Missense 11/12 - 1
1-44386512-T-G c.950T>G p.V317G Missense 11/12 - 1
1-44386517-G-A c.955G>A p.V319I Missense 11/12 - 1
1-44386520-G-A c.958G>A p.A320T Missense 11/12 - 1
1-44386520-G-C c.958G>C p.A320P Missense 11/12 - 6
1-44386521-C-T c.959C>T p.A320V Missense 11/12 - 1
1-44386535-G-T c.973G>T p.D325Y Missense 11/12 - 1
1-44386543-C-T c.981C>T p.S327= Synonymous 11/12 - 1
1-44386553-G-A c.991G>A p.A331T Missense 11/12 - 2
1-44386556-C-T c.994C>T p.P332S Missense 11/12 - 2
1-44386562-C-CA c.1001dup p.H334Qfs*4 Frameshift 11/12 - 1
1-44386574-AC-TG c.1012_1013delinsTG p.T338C Missense 11/12 - 1
1-44386575-C-T c.1013C>T p.T338I Missense 11/12 - 1
1-44386576-C-G c.1014C>G p.T338= Synonymous 11/12 - 1
1-44386576-C-T c.1014C>T p.T338= Synonymous 11/12 - 1
1-44386577-G-A c.1015G>A p.V339I Missense 11/12 - 1
1-44386580-C-G c.1018C>G p.R340G Missense 11/12 - 1
1-44386580-C-T c.1018C>T p.R340C Missense 11/12 - 4
1-44386581-G-C c.1019G>C p.R340P Missense 11/12 - 1
1-44386589-G-A c.1027G>A p.A343T Missense 11/12 - 1
1-44386590-C-T c.1028C>T p.A343V Missense 11/12 - 1
1-44386591-C-A c.1029C>A p.A343= Synonymous 11/12 - 1
1-44386591-C-G c.1029C>G p.A343= Synonymous 11/12 - 1
1-44386591-C-T c.1029C>T p.A343= Synonymous 11/12 - 1
1-44386595-A-G c.1033A>G p.K345E Missense 11/12 - 1
1-44386615-A-G c.1038+15A>G - IntronicSNV - 11/11 10
1-44386615-A-T c.1038+15A>T - IntronicSNV - 11/11 9
1-44386642-G-A c.1038+42G>A - IntronicSNV - 11/11 5
1-44386642-G-C c.1038+42G>C - IntronicSNV - 11/11 5
1-44386642-G-T c.1038+42G>T - IntronicSNV - 11/11 5
1-44387228-T-G c.1038+628T>G - IntronicSNV - 11/11 1
1-44390392-C-G c.1038+3792C>G - IntronicSNV - 11/11 1
1-44390392-C-T c.1038+3792C>T - IntronicSNV - 11/11 1
1-44395516-C-A c.1039-288C>A - IntronicSNV - 11/11 2
1-44395786-C-T c.1039-18C>T - IntronicSNV - 11/11 9
1-44395811-C-T c.1046C>T p.T349M Missense 12/12 - 1
1-44395815-C-T c.1050C>T p.H350= Synonymous 12/12 - 1
1-44395821-C-T c.1056C>T p.I352= Synonymous 12/12 - 2
1-44395822-C-T c.1057C>T p.Q353* Nonsense 12/12 - 3
1-44395824-G-A c.1059G>A p.Q353= Synonymous 12/12 - 2
1-44395825-C-T c.1060C>T p.R354* Nonsense 12/12 - 1
1-44395826-G-A c.1061G>A p.R354Q Missense 12/12 - 2
1-44395826-G-T c.1061G>T p.R354L Missense 12/12 - 1
1-44395828-G-A c.1063G>A p.E355K Missense 12/12 - 1
1-44395833-A-G c.1068A>G p.K356= Synonymous 12/12 - 1
1-44395835-A-T c.1070A>T p.E357V Missense 12/12 - 1
1-44395836-G-C c.1071G>C p.E357D Missense 12/12 - 1
1-44395836-G-T c.1071G>T p.E357D Missense 12/12 - 1
1-44395840-C-T c.1075C>T p.L359= Synonymous 12/12 - 1
1-44395843-C-T c.1078C>T p.R360W Missense 12/12 - 1
1-44395844-G-A c.1079G>A p.R360Q Missense 12/12 - 1
1-44395846-A-G c.1081A>G p.K361E Missense 12/12 - 1
1-44395862-G-C c.1097G>C p.R366P Missense 12/12 - 1
1-44395863-C-G c.1098C>G p.R366= Synonymous 12/12 - 1
1-44395863-C-T c.1098C>T p.R366= Synonymous 12/12 - 2
1-44395864-G-A c.1099G>A p.V367I Missense 12/12 - 3
1-44395869-C-A c.1104C>A p.I368= Synonymous 12/12 - 1
1-44395869-C-T c.1104C>T p.I368= Synonymous 12/12 - 3
1-44395870-A-G c.1105A>G p.T369A Missense 12/12 - 1
1-44395870-A-T c.1105A>T p.T369S Missense 12/12 - 1
1-44395873-G-A c.1108G>A p.D370N Missense 12/12 - 1
1-44395873-G-C c.1108G>C p.D370H Missense 12/12 - 1
1-44395873-G-T c.1108G>T p.D370Y Missense 12/12 - 5
1-44395877-T-G c.1112T>G p.L371R Missense 12/12 - 1
1-44396196-A-G c.*303A>G - 3-UTRSNV 12/12 - 1
1-44396215-T-C c.*322T>C - 3-UTRSNV 12/12 - 3
1-44396646-C-G c.*753C>G - 3-UTRSNV 12/12 - 2
1-44396790-G-A c.*897G>A - 3-UTRSNV 12/12 - 2