TM7SF2

TM7SF2 transmembrane 7 superfamily member 2

Annotation transcript: NM_003273.6

367 unique variant annotations were identified in 244 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
11-64879489-T-A c.2T>A p.M1? Missense 1/10 - 1
11-64879498-C-G c.11C>G p.T4S Missense 1/10 - 1
11-64879500-C-T c.13C>T p.Q5* Nonsense 1/10 - 1
11-64879504-GCC-G c.21_22del p.R8Gfs*93 Frameshift 1/10 - 2
11-64879504-GC-G c.22del p.R8Gfs*83 Frameshift 1/10 - 1
11-64879509-C-T c.22C>T p.R8W Missense 1/10 - 1
11-64879516-CG-AT c.29_30delinsAT p.P10H Missense 1/10 - 1
11-64879524-TT-GC c.37_38delinsGC p.F13A Missense 1/10 - 1
11-64879527-G-A c.40G>A p.G14R Missense 1/10 - 1
11-64879527-G-C c.40G>C p.G14R Missense 1/10 - 1
11-64879533-C-T c.46C>T p.P16S Missense 1/10 - 1
11-64879545-G-A c.52+6G>A - IntronicSNV - 1/9 1
11-64879988-C-A c.54C>A p.G18= Synonymous 2/10 - 2
11-64879988-C-G c.54C>G p.G18= Synonymous 2/10 - 1
11-64879988-C-T c.54C>T p.G18= Synonymous 2/10 - 1
11-64879989-G-C c.55G>C p.A19P Missense 2/10 - 2
11-64879989-GCC-ATG c.55_57delinsATG p.A19M Missense 2/10 - 1
11-64879991-C-A c.57C>A p.A19= Synonymous 2/10 - 1
11-64879991-C-G c.57C>G p.A19= Synonymous 2/10 - 1
11-64879991-C-T c.57C>T p.A19= Synonymous 2/10 - 1
11-64879992-GCG-TTT c.58_60delinsTTT p.A20F Missense 2/10 - 2
11-64879993-CG-AC c.59_60delinsAC p.A20D Missense 2/10 - 2
11-64879996-C-T c.62C>T p.A21V Missense 2/10 - 1
11-64879997-T-A c.63T>A p.A21= Synonymous 2/10 - 2
11-64879997-T-C c.63T>C p.A21= Synonymous 2/10 - 2
11-64879997-T-G c.63T>G p.A21= Synonymous 2/10 - 2
11-64880008-T-A c.74T>A p.L25Q Missense 2/10 - 1
11-64880016-GC-CA c.82_83delinsCA p.A28H Missense 2/10 - 1
11-64880016-GCC-AAG c.82_84delinsAAG p.A28K Missense 2/10 - 1
11-64880016-GCC-ATG c.82_84delinsATG p.A28M Missense 2/10 - 1
11-64880016-GC-TG c.82_83delinsTG p.A28C Missense 2/10 - 1
11-64880016-GC-TT c.82_83delinsTT p.A28F Missense 2/10 - 1
11-64880017-CC-AG c.83_84delinsAG p.A28E Missense 2/10 - 1
11-64880017-C-G c.83C>G p.A28G Missense 2/10 - 1
11-64880018-C-A c.84C>A p.A28= Synonymous 2/10 - 1
11-64880018-C-G c.84C>G p.A28= Synonymous 2/10 - 1
11-64880018-C-T c.84C>T p.A28= Synonymous 2/10 - 1
11-64880019-A-G c.85A>G p.T29A Missense 2/10 - 1
11-64880020-CC-GG c.86_87inv p.T29R Missense 2/10 - 1
11-64880023-T-C c.89T>C p.M30T Missense 2/10 - 1
11-64880025-T-C c.91T>C p.F31L Missense 2/10 - 1
11-64880027-C-A c.93C>A p.F31L Missense 2/10 - 1
11-64880027-C-G c.93C>G p.F31L Missense 2/10 - 1
11-64880042-G-A c.108G>A p.A36= Synonymous 2/10 - 1
11-64880042-G-C c.108G>C p.A36= Synonymous 2/10 - 1
11-64880042-G-T c.108G>T p.A36= Synonymous 2/10 - 1
11-64880043-G-A c.109G>A p.A37T Missense 2/10 - 1
11-64880047-G-A c.113G>A p.R38H Missense 2/10 - 2
11-64880047-G-C c.113G>C p.R38P Missense 2/10 - 1
11-64880050-C-G c.116C>G p.S39W Missense 2/10 - 2
11-64880052-G-A c.118G>A p.G40S Missense 2/10 - 1
11-64880052-GG-AA c.118_119delinsAA p.G40N Missense 2/10 - 1
11-64880056-C-A c.122C>A p.P41H Missense 2/10 - 1
11-64880061-C-T c.127C>T p.R43C Missense 2/10 - 2
11-64880063-C-A c.129C>A p.R43= Synonymous 2/10 - 1
11-64880063-C-G c.129C>G p.R43= Synonymous 2/10 - 1
11-64880063-C-T c.129C>T p.R43= Synonymous 2/10 - 1
11-64880065-T-A c.131T>A p.L44Q Missense 2/10 - 1
11-64880080-C-T c.146C>T p.A49V Missense 2/10 - 1
11-64880083-C-A c.149C>A p.S50Y Missense 2/10 - 1
11-64880084-C-A c.150C>A p.S50= Synonymous 2/10 - 1
11-64880084-C-G c.150C>G p.S50= Synonymous 2/10 - 1
11-64880084-C-T c.150C>T p.S50= Synonymous 2/10 - 1
11-64880090-G-A c.156G>A p.P52= Synonymous 2/10 - 11
11-64880090-G-C c.156G>C p.P52= Synonymous 2/10 - 16
11-64880090-G-T c.156G>T p.P52= Synonymous 2/10 - 16
11-64880095-T-A c.161T>A p.L54Q UnclassifiedSNV 2/10 - 2
11-64880095-T-G c.161T>G p.L54R Missense 2/10 - 1
11-64880097-G-A c.163G>A p.E55K Missense 2/10 - 1
11-64880098-A-G c.164A>G p.E55G Missense 2/10 - 1
11-64880099-G-A c.165G>A p.E55= Synonymous 2/10 - 1
11-64880106-T-A c.172T>A p.W58R Missense 2/10 - 1
11-64880106-T-C c.172T>C p.W58R Missense 2/10 - 1
11-64880116-GG-AT c.182_183delinsAT p.R61H Missense 2/10 - 1
11-64880122-T-C c.188T>C p.L63P Missense 2/10 - 1
11-64880136-G-C c.202G>C p.A68P Missense 2/10 - 1
11-64880154-G-A c.220G>A p.A74T Missense 2/10 - 1
11-64880155-C-T c.221C>T p.A74V Missense 2/10 - 1
11-64880159-G-A c.225G>A p.A75= Synonymous 2/10 - 2
11-64880164-A-G c.230A>G p.Y77C Missense 2/10 - 1
11-64880164-A-T c.230A>T p.Y77F Missense 2/10 - 1
11-64880173-C-T c.239C>T p.P80L Missense 2/10 - 1
11-64880177-G-GCTTTATCTTCTTCCTGCA c.244_245insTTTATCTTCTTCCTGCAC p.L76_A81dup InFrameInsertion 2/10 - 1
11-64880178-C-T c.244C>T p.R82C Missense 2/10 - 1
11-64880179-G-A c.245G>A p.R82H Missense 2/10 - 1
11-64880181-A-C c.247A>C p.K83Q Missense 2/10 - 1
11-64880182-A-T c.248A>T p.K83M Missense 2/10 - 1
11-64880184-G-T c.249+1G>T - IntronicSNV - 2/9 1
11-64880187-GCGGGCCCCGCTCGCGGACGCTCGGGGGAGGGAAGCGAATGGGCTCGGCGAGGGAAAGGA-G c.249+6_250-36del - SpliceAcceptorDeletion - 2/9 1
11-64880216-G-A c.249+33G>A - IntronicSNV - 2/9 1
11-64880283-G-A c.250G>A p.V84M Missense 3/10 - 1
11-64880292-G-T c.259G>T p.G87W Missense 3/10 - 1
11-64880297-G-A c.264G>A p.Q88= Synonymous 3/10 - 1
11-64880307-G-A c.274G>A p.D92N Missense 3/10 - 1
11-64880314-G-A c.281G>A p.S94N Missense 3/10 - 1
11-64880317-G-A c.284G>A p.R95H Missense 3/10 - 1
11-64880322-C-T c.289C>T p.R97C Missense 3/10 - 1
11-64880335-A-C c.302A>C p.N101T Missense 3/10 - 1
11-64880338-GGTGCCTAGGGGACGGGCCCTCGCGCTGGAGTTAAGCGGCCGGGGGTGGAGCTCCAGGCC-G c.304+1_304+59del - SpliceDonorDeletion - 3/9 1
11-64880344-AG-A c.304+11del - IntronicDeletion - 3/9 1
11-64880355-C-T c.304+18C>T - IntronicSNV - 3/9 1
11-64880542-G-A c.305-150G>A - IntronicSNV - 3/9 2
11-64880697-C-G c.310C>G p.Q104E Missense 4/10 - 1
11-64880704-T-C c.317T>C p.L106P Missense 4/10 - 1
11-64880710-T-C c.323T>C p.L108P Missense 4/10 - 2
11-64880716-C-T c.329C>T p.A110V Missense 4/10 - 1
11-64880727-G-A c.340G>A p.G114R Missense 4/10 - 1
11-64880727-G-C c.340G>C p.G114R Missense 4/10 - 1
11-64880743-C-T c.356C>T p.A119V Missense 4/10 - 12
11-64880758-G-A c.371G>A p.G124E Missense 4/10 - 1
11-64880758-G-T c.371G>T p.G124V Missense 4/10 - 1
11-64880764-T-C c.377T>C p.L126P Missense 4/10 - 1
11-64880767-C-T c.380C>T p.P127L Missense 4/10 - 4
11-64880769-G-A c.382G>A p.E128K Missense 4/10 - 1
11-64880772-A-C c.385A>C p.M129L Missense 4/10 - 1
11-64880772-A-T c.385A>T p.M129L Missense 4/10 - 1
11-64880777-C-T c.390C>T p.L130= Synonymous 4/10 - 1
11-64880795-C-T c.408C>T p.V136= Synonymous 4/10 - 1
11-64880796-G-A c.409G>A p.A137T Missense 4/10 - 1
11-64880797-C-T c.410C>T p.A137V Missense 4/10 - 1
11-64880801-C-A c.414C>A p.T138= Synonymous 4/10 - 1
11-64880801-C-G c.414C>G p.T138= Synonymous 4/10 - 1
11-64880801-C-T c.414C>T p.T138= Synonymous 4/10 - 2
11-64880805-A-G c.418A>G p.T140A Missense 4/10 - 1
11-64880808-G-A c.421G>A p.A141T Missense 4/10 - 2
11-64880809-C-T c.422C>T p.A141V Missense 4/10 - 9
11-64880823-C-T c.436C>T p.L146F Missense 4/10 - 1
11-64880836-T-C c.449T>C p.M150T Missense 4/10 - 1
11-64880837-G-A c.450G>A p.M150I Missense 4/10 - 2
11-64880837-G-C c.450G>C p.M150I Missense 4/10 - 2
11-64880837-G-T c.450G>T p.M150I Missense 4/10 - 2
11-64880842-C-G c.455C>G p.A152G Missense 4/10 - 1
11-64880844-C-A c.457C>A p.Q153K Missense 4/10 - 1
11-64880846-G-C c.459G>C p.Q153H Missense 4/10 - 1
11-64880846-G-T c.459G>T p.Q153H Missense 4/10 - 1
11-64880856-G-A c.469G>A p.V157I Missense 4/10 - 2
11-64880856-G-T c.469G>T p.V157F Missense 4/10 - 1
11-64880860-C-T c.473C>T p.S158L Missense 4/10 - 2
11-64880868-G-C c.481G>C p.A161P Missense 4/10 - 3
11-64880868-G-T c.481G>T p.A161S Missense 4/10 - 1
11-64880871-C-T c.484C>T p.P162S Missense 4/10 - 3
11-64880874-G-A c.487G>A p.G163R Missense 4/10 - 1
11-64880874-G-C c.487G>C p.G163R Missense 4/10 - 1
11-64880878-G-A c.491G>A p.G164E Missense 4/10 - 2
11-64880873-TG-T c.492del p.N165Tfs*45 Frameshift 4/10 - 2
11-64880873-T-TG c.492dup p.N165Efs*29 Frameshift 4/10 - 1
11-64880879-G-T c.492G>T p.G164= Synonymous 4/10 - 1
11-64880879-GA-G c.494del p.N165Tfs*45 Frameshift 4/10 - 2
11-64880881-A-C c.494A>C p.N165T Missense 4/10 - 1
11-64880883-T-G c.496T>G p.S166A Missense 4/10 - 1
11-64880886-G-T c.499G>T p.G167C Missense 4/10 - 1
11-64880888-GTGAGAGGGGTCCTGGGGTGGAGACGGAGGCAGATTGGGGCGTCTGCCTGTACATTCACT-G c.499+2_500-17del - SpliceAcceptorDeletion - 4/9 1
11-64880891-G-C c.499+5G>C - IntronicSNV - 4/9 1
11-64880969-C-T c.506C>T p.P169L Missense 5/10 - 2
11-64880976-C-G c.513C>G p.Y171* Nonsense 5/10 - 1
11-64880977-G-A c.514G>A p.D172N Missense 5/10 - 2
11-64880977-G-T c.514G>T p.D172Y Missense 5/10 - 1
11-64880979-C-CT c.522dup p.L175Sfs*19 Frameshift 5/10 - 4
11-64880993-G-A c.530G>A p.R177Q Missense 5/10 - 1
11-64880993-GA-AT c.530_531delinsAT p.R177H Missense 5/10 - 2
11-64880993-G-C c.530G>C p.R177P Missense 5/10 - 2
11-64881005-C-A c.542C>A p.P181H Missense 5/10 - 2
11-64881008-G-A c.545G>A p.R182H Missense 5/10 - 1
11-64881016-T-C c.553T>C p.F185L Missense 5/10 - 1
11-64881018-C-A c.555C>A p.F185L Missense 5/10 - 1
11-64881018-C-G c.555C>G p.F185L Missense 5/10 - 1
11-64881024-C-T c.561C>T p.D187= Synonymous 5/10 - 1
11-64881027-C-G c.564C>G p.F188L Missense 5/10 - 1
11-64881036-C-T c.573C>T p.F191= Synonymous 5/10 - 2
11-64881039-T-C c.576T>C p.C192= Synonymous 5/10 - 1
11-64881043-C-T c.580C>T p.L194= Synonymous 5/10 - 1
11-64881045-G-A c.582G>A p.L194= Synonymous 5/10 - 1
11-64881045-G-C c.582G>C p.L194= Synonymous 5/10 - 1
11-64881045-G-T c.582G>T p.L194= Synonymous 5/10 - 1
11-64881046-C-T c.583C>T p.R195* Nonsense 5/10 - 1
11-64881052-G-A c.589G>A p.G197S Missense 5/10 - 1
11-64881054-C-A c.591C>A p.G197= Synonymous 5/10 - 1
11-64881054-C-G c.591C>G p.G197= Synonymous 5/10 - 1
11-64881054-C-T c.591C>T p.G197= Synonymous 5/10 - 1
11-64881055-C-T c.592C>T p.L198F Missense 5/10 - 1
11-64881060-C-G c.597C>G p.I199M Missense 5/10 - 1
11-64881060-C-T c.597C>T p.I199= Synonymous 5/10 - 1
11-64881061-G-C c.598G>C p.G200R Missense 5/10 - 4
11-64881784-A-AC c.604-400dup - IntronicInsertion - 5/9 1
11-64881784-A-ACC c.604-400_604-399insCC - IntronicInsertion - 5/9 1
11-64882163-T-C c.604-22T>C - IntronicSNV - 5/9 3
11-64882195-A-G c.614A>G p.N205S Missense 6/10 - 3
11-64882201-C-A c.620C>A p.A207D Missense 6/10 - 1
11-64882202-C-T c.621C>T p.A207= Synonymous 6/10 - 1
11-64882206-T-C c.625T>C p.L209= Synonymous 6/10 - 3
11-64882208-G-A c.627G>A p.L209= Synonymous 6/10 - 6
11-64882211-G-A c.630G>A p.M210I Missense 6/10 - 1
11-64882211-G-C c.630G>C p.M210I Missense 6/10 - 1
11-64882211-G-T c.630G>T p.M210I Missense 6/10 - 1
11-64882210-TGAA-T c.631_633del p.K211del InFrameDeletion 6/10 - 1
11-64882215-G-A c.634G>A p.E212K Missense 6/10 - 1
11-64882223-G-C c.642G>C p.E214D Missense 6/10 - 1
11-64882223-G-T c.642G>T p.E214D Missense 6/10 - 1
11-64882227-C-T c.646C>T p.R216* Nonsense 6/10 - 1
11-64882228-G-A c.647G>A p.R216Q Missense 6/10 - 3
11-64882239-T-C c.658T>C p.S220P Missense 6/10 - 2
11-64882244-G-T c.663G>T p.L221= Synonymous 6/10 - 1
11-64882246-C-A c.665C>A p.A222D Missense 6/10 - 1
11-64882246-C-G c.665C>G p.A222G Missense 6/10 - 1
11-64882249-T-C c.668T>C p.M223T Missense 6/10 - 1
11-64882258-T-G c.677T>G p.V226G Missense 6/10 - 2
11-64882275-C-T c.694C>T p.L232F Missense 6/10 - 4
11-64882277-C-A c.696C>A p.L232= Synonymous 6/10 - 1
11-64882277-C-G c.696C>G p.L232= Synonymous 6/10 - 2
11-64882277-C-T c.696C>T p.L232= Synonymous 6/10 - 1
11-64882278-T-A c.697T>A p.Y233N Missense 6/10 - 1
11-64882279-A-T c.698A>T p.Y233F Missense 6/10 - 1
11-64882280-C-T c.699C>T p.Y233= Synonymous 6/10 - 2
11-64882281-G-A c.700G>A p.V234M Missense 6/10 - 2
11-64882284-G-A c.703G>A p.G235S Missense 6/10 - 1
11-64882291-C-T c.710C>T p.A237V Missense 6/10 - 1
11-64882292-C-T c.711C>T p.A237= Synonymous 6/10 - 2
11-64882295-C-A c.714C>A p.L238= Synonymous 6/10 - 1
11-64882295-C-G c.714C>G p.L238= Synonymous 6/10 - 1
11-64882295-C-T c.714C>T p.L238= Synonymous 6/10 - 1
11-64882385-G-A c.724G>A p.E242K Missense 7/10 - 2
11-64882390-C-A c.729C>A p.A243= Synonymous 7/10 - 2
11-64882390-C-G c.729C>G p.A243= Synonymous 7/10 - 2
11-64882390-C-T c.729C>T p.A243= Synonymous 7/10 - 2
11-64882391-G-A c.730G>A p.V244I Missense 7/10 - 2
11-64882402-C-A c.741C>A p.T247= Synonymous 7/10 - 1
11-64882402-C-G c.741C>G p.T247= Synonymous 7/10 - 1
11-64882402-C-T c.741C>T p.T247= Synonymous 7/10 - 2
11-64882410-T-A c.749T>A p.I250N Missense 7/10 - 1
11-64882416-CAT-C c.755_756del p.H252Rfs*68 Frameshift 7/10 - 1
11-64882420-C-T c.759C>T p.D253= Synonymous 7/10 - 6
11-64882421-G-A c.760G>A p.G254R Missense 7/10 - 4
11-64882421-G-C c.760G>C p.G254R Missense 7/10 - 2
11-64882421-G-T c.760G>T p.G254W Missense 7/10 - 2
11-64882431-T-A c.770T>A p.F257Y Missense 7/10 - 1
11-64882440-C-T c.779C>T p.A260V Missense 7/10 - 2
11-64882441-G-A c.780G>A p.A260= Synonymous 7/10 - 2
11-64882441-G-C c.780G>C p.A260= Synonymous 7/10 - 2
11-64882441-G-T c.780G>T p.A260= Synonymous 7/10 - 2
11-64882447-G-A c.786G>A p.G262= Synonymous 7/10 - 2
11-64882447-G-C c.786G>C p.G262= Synonymous 7/10 - 2
11-64882447-G-T c.786G>T p.G262= Synonymous 7/10 - 2
11-64882459-G-A c.798G>A p.W266* Nonsense 7/10 - 1
11-64882464-C-T c.803C>T p.P268L Missense 7/10 - 1
11-64882470-C-T c.809C>T p.T270I Missense 7/10 - 2
11-64882477-C-T c.816C>T p.S272= Synonymous 7/10 - 1
11-64882482-A-C c.821A>C p.Q274P Missense 7/10 - 1
11-64882499-C-T c.838C>T p.H280Y Missense 7/10 - 1
11-64882504-C-T c.843C>T p.H281= Synonymous 7/10 - 1
11-64882506-C-T c.845C>T p.P282L Missense 7/10 - 10
11-64882511-C-A c.850C>A p.P284T Missense 7/10 - 1
11-64882511-CC-AA c.850_851delinsAA p.P284N Missense 7/10 - 2
11-64882512-C-A c.851C>A p.P284H Missense 7/10 - 1
11-64882523-C-T c.862C>T p.P288S Missense 7/10 - 1
11-64882532-TC-CT c.871_872delinsCT p.S291L Missense 7/10 - 1
11-64882533-C-T c.872C>T p.S291F Missense 7/10 - 3
11-64882545-T-A c.884T>A p.L295H Missense 7/10 - 1
11-64882555-T-A c.892+2T>A - IntronicSNV - 7/9 1
11-64882788-A-G c.895A>G p.T299A Missense 8/10 - 1
11-64882789-C-T c.896C>T p.T299I Missense 8/10 - 31
11-64882790-T-A c.897T>A p.T299= Synonymous 8/10 - 2
11-64882790-T-C c.897T>C p.T299= Synonymous 8/10 - 2
11-64882790-T-G c.897T>G p.T299= Synonymous 8/10 - 2
11-64882800-A-G c.907A>G p.I303V Missense 8/10 - 1
11-64882806-C-T c.913C>T p.R305C Missense 8/10 - 1
11-64882807-G-A c.914G>A p.R305H Missense 8/10 - 2
11-64882807-G-T c.914G>T p.R305L Missense 8/10 - 1
11-64882808-T-A c.915T>A p.R305= Synonymous 8/10 - 1
11-64882808-T-C c.915T>C p.R305= Synonymous 8/10 - 1
11-64882808-T-G c.915T>G p.R305= Synonymous 8/10 - 1
11-64882809-G-A c.916G>A p.G306R Missense 8/10 - 1
11-64882810-G-A c.917G>A p.G306E Missense 8/10 - 1
11-64882811-G-A c.918G>A p.G306= Synonymous 8/10 - 1
11-64882813-C-T c.920C>T p.A307V Missense 8/10 - 1
11-64882814-G-A c.921G>A p.A307= Synonymous 8/10 - 5
11-64882814-G-C c.921G>C p.A307= Synonymous 8/10 - 3
11-64882814-G-T c.921G>T p.A307= Synonymous 8/10 - 2
11-64882826-A-G c.933A>G p.K311= Synonymous 8/10 - 1
11-64882831-CT-C c.941del p.F314Sfs*154 Frameshift 8/10 - 1
11-64882836-C-A c.943C>A p.R315= Synonymous 8/10 - 2
11-64882836-C-T c.943C>T p.R315* Nonsense 8/10 - 5
11-64882838-A-T c.945A>T p.R315= Synonymous 8/10 - 1
11-64882837-G-A c.944G>A p.R315Q Missense 8/10 - 2
11-64882838-A-G c.945A>G p.R315= Synonymous 8/10 - 1
11-64882845-C-A c.952C>A p.P318T Missense 8/10 - 1
11-64882848-TC-CG c.955_956delinsCG p.S319R Missense 8/10 - 1
11-64882859-A-C c.966A>C p.R322S Missense 8/10 - 1
11-64882862-G-A c.969G>A p.V323= Synonymous 8/10 - 1
11-64882862-G-C c.969G>C p.V323= Synonymous 8/10 - 1
11-64882862-G-T c.969G>T p.V323= Synonymous 8/10 - 1
11-64882868-T-G c.973+2T>G - IntronicSNV - 8/9 1
11-64882953-G-C c.979G>C p.E327Q Missense 9/10 - 1
11-64882954-GAGACCATCTCTACAGCCACAGGGCGGAAACTGCTGGTGTCTGGGTGGTGGGGTATGGTC-G c.980_1038del p.E327Afs*41 UnclassifiedDeletion 9/10 - 1
11-64882964-CT-C c.990del p.T331Qfs*137 Frameshift 9/10 - 1
11-64882966-C-T c.992C>T p.T331I Missense 9/10 - 1
11-64882969-C-T c.995C>T p.A332V Missense 9/10 - 1
11-64882974-G-A c.1000G>A p.G334R Missense 9/10 - 2
11-64882976-G-A c.1002G>A p.G334= Synonymous 9/10 - 1
11-64882976-G-C c.1002G>C p.G334= Synonymous 9/10 - 1
11-64882976-G-T c.1002G>T p.G334= Synonymous 9/10 - 1
11-64882977-C-A c.1003C>A p.R335= Synonymous 9/10 - 1
11-64882979-G-C c.1005G>C p.R335= Synonymous 9/10 - 1
11-64882979-G-T c.1005G>T p.R335= Synonymous 9/10 - 1
11-64882979-G-A c.1005G>A p.R335= Synonymous 9/10 - 2
11-64883000-G-C c.1026G>C p.W342C Missense 9/10 - 1
11-64883001-TG-GC c.1027_1028delinsGC p.W343A Missense 9/10 - 1
11-64883013-C-T c.1039C>T p.R347C Missense 9/10 - 1
11-64883014-G-A c.1040G>A p.R347H Missense 9/10 - 1
11-64883016-C-T c.1042C>T p.H348Y Missense 9/10 - 1
11-64883021-C-T c.1047C>T p.P349= Synonymous 9/10 - 1
11-64883032-G-C c.1058G>C p.G353A Missense 9/10 - 1
11-64883034-G-A c.1060G>A p.D354N Missense 9/10 - 1
11-64883036-C-A c.1062C>A p.D354E Missense 9/10 - 1
11-64883036-C-G c.1062C>G p.D354E Missense 9/10 - 1
11-64883036-C-T c.1062C>T p.D354= Synonymous 9/10 - 3
11-64883039-C-T c.1065C>T p.L355= Synonymous 9/10 - 1
11-64883059-C-T c.1085C>T p.S362F Missense 9/10 - 1
11-64883064-C-T c.1090C>T p.P364S Missense 9/10 - 1
11-64883065-C-G c.1091C>G p.P364R Missense 9/10 - 1
11-64883066-C-A c.1092C>A p.P364= Synonymous 9/10 - 1
11-64883066-C-G c.1092C>G p.P364= Synonymous 9/10 - 1
11-64883066-C-T c.1092C>T p.P364= Synonymous 9/10 - 1
11-64883069-C-T c.1095C>T p.C365= Synonymous 9/10 - 1
11-64883070-G-A c.1096G>A p.G366R Missense 9/10 - 1
11-64883217-TGCCAACCTAGTACCGTGTGCTTTGCTGCAGACCCTGGCGCTTTTGCTGCTGAGCCCCGA-T c.1096+147_1097-90del - IntronicDeletion - 9/9 1
11-64883373-C-T c.1105C>T p.H369Y Missense 10/10 - 1
11-64883375-C-T c.1107C>T p.H369= Synonymous 10/10 - 1
11-64883379-C-T c.1111C>T p.L371= Synonymous 10/10 - 4
11-64883381-G-A c.1113G>A p.L371= Synonymous 10/10 - 3
11-64883381-G-C c.1113G>C p.L371= Synonymous 10/10 - 3
11-64883381-G-T c.1113G>T p.L371= Synonymous 10/10 - 3
11-64883388-T-C c.1120T>C p.F374L Missense 10/10 - 1
11-64883390-C-A c.1122C>A p.F374L Missense 10/10 - 1
11-64883390-C-G c.1122C>G p.F374L Missense 10/10 - 1
11-64883390-C-T c.1122C>T p.F374= Synonymous 10/10 - 1
11-64883401-A-C c.1133A>C p.Y378S Missense 10/10 - 1
11-64883406-A-C c.1138A>C p.T380P Missense 10/10 - 1
11-64883409-G-A c.1141G>A p.A381T Missense 10/10 - 3
11-64883410-C-T c.1142C>T p.A381V Missense 10/10 - 1
11-64883418-G-A c.1150G>A p.V384M Missense 10/10 - 5
11-64883423-C-T c.1155C>T p.H385= Synonymous 10/10 - 1
11-64883424-CG-GC c.1156_1157delinsGC p.R386A Missense 10/10 - 1
11-64883424-C-T c.1156C>T p.R386C Missense 10/10 - 2
11-64883425-G-A c.1157G>A p.R386H Missense 10/10 - 1
11-64883434-G-A c.1166G>A p.R389Q Missense 10/10 - 1
11-64883435-G-A c.1167G>A p.R389= Synonymous 10/10 - 2
11-64883437-A-G c.1169A>G p.D390G Missense 10/10 - 2
11-64883437-A-T c.1169A>T p.D390V Missense 10/10 - 1
11-64883439-G-C c.1171G>C p.E391Q Missense 10/10 - 3
11-64883442-C-T c.1174C>T p.R392W Missense 10/10 - 4
11-64883447-G-A c.1179G>A p.Q393= Synonymous 10/10 - 1
11-64883456-G-A c.1188G>A p.Q396= Synonymous 10/10 - 1
11-64883458-A-G c.1190A>G p.K397R Missense 10/10 - 1
11-64883462-C-T c.1194C>T p.Y398= Synonymous 10/10 - 1
11-64883466-C-G c.1198C>G p.L400V Missense 10/10 - 1
11-64883469-G-A c.1201G>A p.A401T Missense 10/10 - 1
11-64883469-G-T c.1201G>T p.A401S Missense 10/10 - 1
11-64883476-A-G c.1208A>G p.Q403R Missense 10/10 - 1
11-64883476-A-T c.1208A>T p.Q403L Missense 10/10 - 1
11-64883478-G-T c.1210G>T p.E404* Nonsense 10/10 - 1
11-64883490-C-T c.1222C>T p.R408C Missense 10/10 - 1
11-64883491-G-C c.1223G>C p.R408P Missense 10/10 - 4
11-64883494-T-C c.1226T>C p.V409A Missense 10/10 - 2
11-64883497-C-A c.1229C>A p.P410H Missense 10/10 - 1
11-64883502-C-T c.1234C>T p.R412C Missense 10/10 - 4
11-64883503-G-A c.1235G>A p.R412H Missense 10/10 - 1
11-64883524-G-A c.1256G>A p.*419= Synonymous 10/10 - 1