MED17

MED17 mediator complex subunit 17

Annotation transcript: NM_004268.5

620 unique variant annotations were identified in 303 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
11-93517464-A-C c.-216A>C - 5-UTRSNV 1/12 - 1
11-93517511-C-T c.-169C>T - 5-UTRSNV 1/12 - 1
11-93517686-G-A c.7G>A p.G3R Missense 1/12 - 1
11-93517686-G-C c.7G>C p.G3R Missense 1/12 - 1
11-93517687-G-T c.8G>T p.G3V Missense 1/12 - 1
11-93517691-G-A c.12G>A p.V4= Synonymous 1/12 - 1
11-93517691-G-C c.12G>C p.V4= Synonymous 1/12 - 1
11-93517691-G-T c.12G>T p.V4= Synonymous 1/12 - 1
11-93517706-C-A c.27C>A p.I9= Synonymous 1/12 - 1
11-93517706-C-T c.27C>T p.I9= Synonymous 1/12 - 2
11-93517710-A-G c.31A>G p.I11V Missense 1/12 - 1
11-93517715-A-T c.36A>T p.E12D Missense 1/12 - 1
11-93517719-G-A c.40G>A p.A14T Missense 1/12 - 1
11-93517724-C-T c.45C>T p.C15= Synonymous 1/12 - 1
11-93517725-G-A c.46G>A p.E16K Missense 1/12 - 1
11-93517732-A-T c.53A>T p.Q18L Missense 1/12 - 1
11-93517734-G-A c.55G>A p.V19I Missense 1/12 - 1
11-93517738-A-T c.59A>T p.H20L Missense 1/12 - 1
11-93517744-TG-AC c.65_66delinsAC p.V22D Missense 1/12 - 1
11-93517749-C-T c.70C>T p.L24= Synonymous 1/12 - 1
11-93517750-T-A c.71T>A p.L24Q Missense 1/12 - 1
11-93517752-G-C c.73G>C p.D25H Missense 1/12 - 1
11-93517753-A-G c.74A>G p.D25G Missense 1/12 - 2
11-93517756-G-T c.77G>T p.G26V Missense 1/12 - 1
11-93517758-A-C c.79A>C p.T27P Missense 1/12 - 1
11-93517758-A-G c.79A>G p.T27A Missense 1/12 - 1
11-93517761-G-A c.82G>A p.E28K Missense 1/12 - 1
11-93517770-C-G c.91C>G p.L31V Missense 1/12 - 1
11-93517774-C-T c.95C>T p.P32L Missense 1/12 - 1
11-93517777-C-T c.98C>T p.P33L Missense 1/12 - 2
11-93517782-T-C c.103T>C p.S35P Missense 1/12 - 1
11-93517785-A-C c.106A>C p.M36L Missense 1/12 - 1
11-93517785-A-T c.106A>T p.M36L Missense 1/12 - 1
11-93517798-T-C c.119T>C p.L40P Missense 1/12 - 1
11-93517800-GCG-TGT c.121_123delinsTGT p.A41C Missense 1/12 - 1
11-93517804-GT-AA c.125_126delinsAA p.R42Q Missense 1/12 - 1
11-93517813-A-G c.134A>G p.Q45R Missense 1/12 - 1
11-93517820-A-G c.141A>G p.I47M Missense 1/12 - 1
11-93517821-G-C c.142G>C p.D48H Missense 1/12 - 1
11-93517823-C-A c.144C>A p.D48E Missense 1/12 - 1
11-93517834-G-A c.155G>A p.G52D Missense 1/12 - 1
11-93517836-T-C c.157T>C p.S53P Missense 1/12 - 1
11-93517836-TCG-GAC c.157_159delinsGAC p.S53D Missense 1/12 - 1
11-93517836-T-G c.157T>G p.S53A Missense 1/12 - 2
11-93517837-CG-TT c.158_159delinsTT p.S53F Missense 1/12 - 1
11-93517842-TC-GA c.163_164inv p.S55D Missense 1/12 - 1
11-93517842-T-G c.163T>G p.S55A Missense 1/12 - 1
11-93517845-G-A c.166G>A p.E56K Missense 1/12 - 1
11-93517844-CGAG-C c.176_178del p.E59del InFrameDeletion 1/12 - 1
11-93517860-G-A c.181G>A p.A61T Missense 1/12 - 1
11-93517861-C-T c.182C>T p.A61V Missense 1/12 - 1
11-93517870-A-C c.191A>C p.E64A Missense 1/12 - 1
11-93517871-G-C c.192G>C p.E64D Missense 1/12 - 1
11-93517871-G-T c.192G>T p.E64D Missense 1/12 - 1
11-93517872-G-A c.193G>A p.G65S Missense 1/12 - 1
11-93517872-G-C c.193G>C p.G65R Missense 1/12 - 1
11-93517872-G-T c.193G>T p.G65C Missense 1/12 - 1
11-93517874-C-A c.195C>A p.G65= Synonymous 1/12 - 18
11-93517874-C-G c.195C>G p.G65= Synonymous 1/12 - 20
11-93517874-C-T c.195C>T p.G65= Synonymous 1/12 - 18
11-93517876-A-T c.197A>T p.D66V Missense 1/12 - 1
11-93517882-A-C c.203A>C p.Q68P Missense 1/12 - 2
11-93517886-G-A c.207G>A p.E69= Synonymous 1/12 - 2
11-93517886-G-C c.207G>C p.E69D Missense 1/12 - 36
11-93517886-G-T c.207G>T p.E69D Missense 1/12 - 32
11-93517891-C-A c.212C>A p.P71Q Missense 1/12 - 1
11-93517891-C-T c.212C>T p.P71L Missense 1/12 - 1
11-93517896-G-C c.217G>C p.A73P Missense 1/12 - 1
11-93517899-G-A c.220G>A p.G74R Missense 1/12 - 4
11-93517900-GG-AC c.221_222delinsAC p.G74D Missense 1/12 - 1
11-93517903-C-G c.224C>G p.S75C Missense 1/12 - 1
11-93517903-C-T c.224C>T p.S75F Missense 1/12 - 1
11-93517906-G-A c.227G>A p.S76N Missense 1/12 - 1
11-93517906-G-C c.227G>C p.S76T Missense 1/12 - 1
11-93517910-A-C c.231A>C p.A77= Synonymous 1/12 - 1
11-93517912-A-G c.233A>G p.D78G Missense 1/12 - 1
11-93517915-A-G c.236A>G p.Q79R Missense 1/12 - 2
11-93517924-A-G c.245A>G p.E82G Missense 1/12 - 1
11-93517925-G-A c.246G>A p.E82= Synonymous 1/12 - 1
11-93517925-G-C c.246G>C p.E82D Missense 1/12 - 1
11-93517925-G-T c.246G>T p.E82D Missense 1/12 - 1
11-93517926-G-C c.247G>C p.E83Q Missense 1/12 - 1
11-93520315-C-T c.251-852C>T - IntronicSNV - 1/11 1
11-93521149-T-C c.251-18T>C - IntronicSNV - 1/11 1
11-93521167-G-A c.251G>A p.G84E Missense 2/12 - 1
11-93521169-G-A c.253G>A p.V85M Missense 2/12 - 1
11-93521173-T-C c.257T>C p.V86A Missense 2/12 - 1
11-93521176-A-C c.260A>C p.K87T Missense 2/12 - 1
11-93521178-T-C c.262T>C p.F88L Missense 2/12 - 1
11-93521180-T-A c.264T>A p.F88L Missense 2/12 - 1
11-93521180-T-G c.264T>G p.F88L Missense 2/12 - 1
11-93521185-C-T c.269C>T p.P90L Missense 2/12 - 1
11-93521196-C-T c.280C>T p.P94S Missense 2/12 - 1
11-93521212-G-A c.296G>A p.R99K Missense 2/12 - 1
11-93521218-A-G c.302A>G p.N101S Missense 2/12 - 3
11-93521218-A-T c.302A>T p.N101I Missense 2/12 - 1
11-93521225-A-C c.309A>C p.R103S Missense 2/12 - 1
11-93521241-A-C c.325A>C p.M109L Missense 2/12 - 2
11-93521241-A-T c.325A>T p.M109L Missense 2/12 - 2
11-93521243-G-A c.327G>A p.M109I Missense 2/12 - 1
11-93521248-T-G c.332T>G p.V111G Missense 2/12 - 2
11-93521254-A-G c.338A>G p.Y113C Missense 2/12 - 1
11-93521257-A-G c.341A>G p.D114G Missense 2/12 - 1
11-93521258-T-C c.342T>C p.D114= Synonymous 2/12 - 1
11-93521266-G-A c.350G>A p.S117N Missense 2/12 - 1
11-93521270-T-A c.354T>A p.I118= Synonymous 2/12 - 1
11-93521270-T-C c.354T>C p.I118= Synonymous 2/12 - 1
11-93521273-T-A c.357T>A p.V119= Synonymous 2/12 - 2
11-93521273-T-C c.357T>C p.V119= Synonymous 2/12 - 2
11-93521273-T-G c.357T>G p.V119= Synonymous 2/12 - 2
11-93521275-G-A c.359G>A p.R120K Missense 2/12 - 1
11-93521276-G-C c.360G>C p.R120S Missense 2/12 - 3
11-93521276-G-T c.360G>T p.R120S Missense 2/12 - 1
11-93521277-G-A c.361G>A p.D121N Missense 2/12 - 1
11-93521278-A-G c.362A>G p.D121G Missense 2/12 - 3
11-93521278-A-T c.362A>T p.D121V Missense 2/12 - 1
11-93521281-A-G c.365A>G p.K122R Missense 2/12 - 1
11-93521282-A-AT c.366_367insT p.K123* Nonsense 2/12 - 1
11-93521286-T-A c.370T>A p.F124I Missense 2/12 - 1
11-93521287-T-C c.371T>C p.F124S Missense 2/12 - 1
11-93521287-T-G c.371T>G p.F124C Missense 2/12 - 1
11-93521285-AT-A c.372del p.F124Lfs*2 Frameshift 2/12 - 1
11-93521289-A-G c.373A>G p.M125V Missense 2/12 - 2
11-93521299-A-C c.383A>C p.D128A Missense 2/12 - 1
11-93521302-C-T c.386C>T p.P129L Missense 2/12 - 1
11-93521308-C-T c.392C>T p.S131F Missense 2/12 - 1
11-93521317-C-T c.401C>T p.A134V Missense 2/12 - 1
11-93521319-C-T c.403C>T p.L135F Missense 2/12 - 3
11-93521322-C-T c.406C>T p.P136S Missense 2/12 - 1
11-93521326-C-T c.410C>T p.P137L Missense 2/12 - 4
11-93521405-C-T c.417+72C>T - IntronicSNV - 2/11 10
11-93521575-T-C c.417+242T>C - IntronicSNV - 2/11 1
11-93523740-A-G c.418A>G p.N140D Missense 3/12 - 1
11-93523744-C-T c.422C>T p.P141L Missense 3/12 - 1
11-93523746-C-T c.424C>T p.Q142* Nonsense 3/12 - 1
11-93523750-C-T c.428C>T p.T143M Missense 3/12 - 5
11-93523764-T-C c.442T>C p.S148P Missense 3/12 - 1
11-93523764-T-G c.442T>G p.S148A Missense 3/12 - 1
11-93523765-C-T c.443C>T p.S148F Missense 3/12 - 1
11-93523772-G-C c.450G>C p.K150N Missense 3/12 - 1
11-93523772-G-T c.450G>T p.K150N Missense 3/12 - 1
11-93523773-A-G c.451A>G p.K151E Missense 3/12 - 1
11-93523776-T-A c.454T>A p.S152T Missense 3/12 - 2
11-93523776-TCA-GAC c.454_456delinsGAC p.S152D Missense 3/12 - 1
11-93523776-T-G c.454T>G p.S152A Missense 3/12 - 1
11-93523779-C-G c.457C>G p.L153V Missense 3/12 - 1
11-93523785-G-A c.463G>A p.G155R Missense 3/12 - 1
11-93523789-C-T c.467C>T p.A156V Missense 3/12 - 1
11-93523791-G-A c.469G>A p.A157T Missense 3/12 - 2
11-93523797-A-C c.475A>C p.I159L Missense 3/12 - 1
11-93523797-ATC-A c.477_478del p.L160Ifs*9 Frameshift 3/12 - 1
11-93523799-C-A c.477C>A p.I159= Synonymous 3/12 - 2
11-93523802-A-C c.480A>C p.L160F Missense 3/12 - 1
11-93523802-A-T c.480A>T p.L160F Missense 3/12 - 1
11-93523809-G-T c.487G>T p.G163W Missense 3/12 - 1
11-93523812-G-A c.490G>A p.A164T Missense 3/12 - 1
11-93523815-G-A c.493G>A p.E165K Missense 3/12 - 2
11-93523818-A-G c.496A>G p.R166G Missense 3/12 - 1
11-93523824-A-T c.502A>T p.T168S Missense 3/12 - 1
11-93523829-A-G c.507A>G p.K169= Synonymous 3/12 - 1
11-93523833-G-A c.511G>A p.V171I Missense 3/12 - 1
11-93523834-T-C c.512T>C p.V171A Missense 3/12 - 1
11-93523837-CC-TG c.515_516delinsTG p.T172M Missense 3/12 - 1
11-93523838-C-T c.516C>T p.T172= Synonymous 3/12 - 1
11-93523839-G-A c.517G>A p.E173K Missense 3/12 - 2
11-93523840-A-G c.518A>G p.E173G Missense 3/12 - 1
11-93523842-A-G c.520A>G p.N174D Missense 3/12 - 1
11-93523853-C-A c.531C>A p.N177K Missense 3/12 - 1
11-93523860-C-T c.538C>T p.Q180* Nonsense 3/12 - 1
11-93523864-G-C c.542G>C p.R181T Missense 3/12 - 1
11-93523869-T-C c.547T>C p.F183L Missense 3/12 - 1
11-93523871-C-A c.549C>A p.F183L Missense 3/12 - 1
11-93523871-C-G c.549C>G p.F183L Missense 3/12 - 1
11-93523880-G-A c.558G>A p.E186= Synonymous 3/12 - 1
11-93523887-CGA-TGT c.565_567delinsTGT p.R189C Missense 3/12 - 1
11-93523887-CG-TA c.565_566delinsTA p.R189* Missense 3/12 - 1
11-93523887-C-T c.565C>T p.R189* Nonsense 3/12 - 3
11-93523888-G-A c.566G>A p.R189Q Missense 3/12 - 1
11-93523893-C-T c.571C>T p.R191W Missense 3/12 - 3
11-93523894-G-T c.572G>T p.R191L Missense 3/12 - 1
11-93523903-G-A c.581G>A p.W194* Nonsense 3/12 - 1
11-93523903-G-T c.581G>T p.W194L Missense 3/12 - 1
11-93523910-T-A c.588T>A p.L196= Synonymous 3/12 - 1
11-93523910-T-C c.588T>C p.L196= Synonymous 3/12 - 1
11-93523910-T-G c.588T>G p.L196= Synonymous 3/12 - 1
11-93523911-C-T c.589C>T p.R197* Nonsense 3/12 - 7
11-93523921-G-A c.599G>A p.G200E Missense 3/12 - 2
11-93523926-A-G c.604A>G p.K202E Missense 3/12 - 1
11-93523927-A-G c.605A>G p.K202R Missense 3/12 - 1
11-93523932-C-A c.610C>A p.L204I Missense 3/12 - 4
11-93523932-C-G c.610C>G p.L204V Missense 3/12 - 1
11-93523932-C-T c.610C>T p.L204F Missense 3/12 - 3
11-93523933-T-A c.611T>A p.L204H Missense 3/12 - 1
11-93523934-C-T c.612C>T p.L204= Synonymous 3/12 - 2
11-93523935-G-A c.613G>A p.G205R Missense 3/12 - 1
11-93523935-G-C c.613G>C p.G205R Missense 3/12 - 1
11-93523936-G-A c.614G>A p.G205E Missense 3/12 - 1
11-93523941-C-T c.619C>T p.L207= Synonymous 3/12 - 1
11-93523943-G-A c.621G>A p.L207= Synonymous 3/12 - 1
11-93523943-G-C c.621G>C p.L207= Synonymous 3/12 - 1
11-93523943-G-T c.621G>T p.L207= Synonymous 3/12 - 1
11-93523944-A-G c.622A>G p.S208G Missense 3/12 - 1
11-93523945-G-A c.623G>A p.S208N Missense 3/12 - 1
11-93523954-G-A c.632G>A p.S211N Missense 3/12 - 1
11-93523954-G-T c.632G>T p.S211I Missense 3/12 - 1
11-93523956-G-A c.634G>A p.A212T Missense 3/12 - 1
11-93524070-TCA-T c.637+111_637+112del - IntronicDeletion - 3/11 1
11-93524075-ATG-A c.637+116_637+117del - IntronicDeletion - 3/11 1
11-93526809-G-A c.638-85G>A - IntronicSNV - 3/11 1
11-93526906-C-T c.650C>T p.P217L Missense 4/12 - 2
11-93526908-C-T c.652C>T p.H218Y Missense 4/12 - 1
11-93526909-A-G c.653A>G p.H218R Missense 4/12 - 1
11-93526915-G-A c.659G>A p.G220D Missense 4/12 - 1
11-93526918-CA-TG c.662_663inv p.T221M Missense 4/12 - 1
11-93526919-A-C c.663A>C p.T221= Synonymous 4/12 - 1
11-93526926-G-C c.670G>C p.V224L Missense 4/12 - 1
11-93526926-G-T c.670G>T p.V224L Missense 4/12 - 1
11-93526927-T-C c.671T>C p.V224A Missense 4/12 - 1
11-93526927-T-G c.671T>G p.V224G Missense 4/12 - 2
11-93526929-A-G c.673A>G p.I225V Missense 4/12 - 2
11-93526934-G-C c.678G>C p.K226N Missense 4/12 - 5
11-93526934-G-T c.678G>T p.K226N Missense 4/12 - 7
11-93526941-G-T c.685G>T p.D229Y Missense 4/12 - 1
11-93526946-C-T c.690C>T p.L230= Synonymous 4/12 - 2
11-93526948-A-C c.692A>C p.D231A Missense 4/12 - 1
11-93526956-A-C c.700A>C p.K234Q Missense 4/12 - 1
11-93526956-A-T c.700A>T p.K234* Nonsense 4/12 - 1
11-93526964-A-C c.708A>C p.I236= Synonymous 4/12 - 1
11-93526965-C-G c.709C>G p.P237A Missense 4/12 - 1
11-93526966-CT-AA c.710_711delinsAA p.P237Q Missense 4/12 - 1
11-93526968-G-T c.712G>T p.E238* Nonsense 4/12 - 1
11-93526970-A-C c.714A>C p.E238D Missense 4/12 - 1
11-93526970-A-T c.714A>T p.E238D Missense 4/12 - 2
11-93526980-C-A c.724C>A p.P242T Missense 4/12 - 1
11-93526986-G-A c.730G>A p.D244N Missense 4/12 - 1
11-93526989-G-A c.733G>A p.V245I Missense 4/12 - 1
11-93526989-G-C c.733G>C p.V245L Missense 4/12 - 1
11-93526996-T-G c.740T>G p.I247S Missense 4/12 - 2
11-93526998-C-T c.742C>T p.P248S Missense 4/12 - 1
11-93527003-T-C c.747T>C p.S249= Synonymous 4/12 - 1
11-93527005-A-C c.749A>C p.D250A Missense 4/12 - 1
11-93527009-A-C c.753A>C p.L251F Missense 4/12 - 2
11-93527011-A-G c.755A>G p.E252G Missense 4/12 - 3
11-93527014-G-A c.758G>A p.G253E Missense 4/12 - 1
11-93527014-G-C c.758G>C p.G253A Missense 4/12 - 1
11-93527022-T-A c.766T>A p.Y256N Missense 4/12 - 3
11-93527023-A-C c.767A>C p.Y256S Missense 4/12 - 1
11-93527023-A-G c.767A>G p.Y256C Missense 4/12 - 1
11-93527025-A-G c.769A>G p.I257V Missense 4/12 - 3
11-93527026-T-C c.770T>C p.I257T Missense 4/12 - 2
11-93527117-G-A c.775G>A p.V259I Missense 5/12 - 1
11-93527121-C-T c.779C>T p.S260L Missense 5/12 - 4
11-93527123-A-G c.781A>G p.I261V Missense 5/12 - 1
11-93527133-A-G c.791A>G p.Q264R Missense 5/12 - 1
11-93527136-C-G c.794C>G p.A265G Missense 5/12 - 1
11-93527144-A-G c.802A>G p.I268V Missense 5/12 - 1
11-93527145-T-C c.803T>C p.I268T Missense 5/12 - 1
11-93527147-G-A c.805G>A p.G269S Missense 5/12 - 1
11-93527147-G-T c.805G>T p.G269C Missense 5/12 - 1
11-93527165-A-G c.823A>G p.N275D Missense 5/12 - 1
11-93527170-C-A c.828C>A p.L276= Synonymous 5/12 - 1
11-93527177-C-T c.835C>T p.R279* Nonsense 5/12 - 1
11-93527178-G-A c.836G>A p.R279Q Missense 5/12 - 1
11-93527180-C-A c.838C>A p.P280T Missense 5/12 - 1
11-93527181-C-T c.839C>T p.P280L Missense 5/12 - 1
11-93527190-A-C c.848A>C p.K283T Missense 5/12 - 1
11-93527191-A-C c.849A>C p.K283N Missense 5/12 - 1
11-93527193-C-G c.851C>G p.S284C Missense 5/12 - 1
11-93527196-A-G c.854A>G p.K285R Missense 5/12 - 1
11-93527197-A-T c.855A>T p.K285N Missense 5/12 - 1
11-93527219-T-A c.859+18T>A - IntronicSNV - 5/11 8
11-93527219-T-C c.859+18T>C - IntronicSNV - 5/11 11
11-93527282-GA-G c.859+87del - IntronicDeletion - 5/11 3
11-93527433-C-G c.859+232C>G - IntronicSNV - 5/11 2
11-93527433-C-T c.859+232C>T - IntronicSNV - 5/11 1
11-93527519-C-T c.859+318C>T - IntronicSNV - 5/11 1
11-93528074-G-C c.860G>C p.G287A Missense 6/12 - 1
11-93528074-G-T c.860G>T p.G287V Missense 6/12 - 3
11-93528077-C-T c.863C>T p.S288F Missense 6/12 - 5
11-93528079-C-T c.865C>T p.P289S Missense 6/12 - 3
11-93528082-C-T c.868C>T p.H290Y Missense 6/12 - 1
11-93528086-G-T c.872G>T p.W291L Missense 6/12 - 1
11-93528088-C-T c.874C>T p.Q292* Nonsense 6/12 - 1
11-93528092-C-T c.878C>T p.T293I Missense 6/12 - 1
11-93528098-T-C c.884T>C p.L295S Missense 6/12 - 1
11-93528103-G-T c.889G>T p.A297S Missense 6/12 - 1
11-93528104-C-G c.890C>G p.A297G Missense 6/12 - 1
11-93528104-C-T c.890C>T p.A297V Missense 6/12 - 1
11-93528106-G-A c.892G>A p.A298T Missense 6/12 - 1
11-93528108-A-C c.894A>C p.A298= Synonymous 6/12 - 1
11-93528108-A-G c.894A>G p.A298= Synonymous 6/12 - 1
11-93528108-A-T c.894A>T p.A298= Synonymous 6/12 - 1
11-93528112-A-G c.898A>G p.N300D Missense 6/12 - 2
11-93528121-T-C c.907T>C p.L303= Synonymous 6/12 - 1
11-93528123-A-G c.909A>G p.L303= Synonymous 6/12 - 1
11-93528123-A-T c.909A>T p.L303F Missense 6/12 - 1
11-93528124-T-C c.910T>C p.C304R Missense 6/12 - 1
11-93528128-A-G c.914A>G p.K305R Missense 6/12 - 1
11-93528131-A-G c.917A>G p.E306G Missense 6/12 - 1
11-93528139-G-T c.925G>T p.A309S Missense 6/12 - 1
11-93528144-G-A c.930G>A p.Q310= Synonymous 6/12 - 1
11-93528144-G-C c.930G>C p.Q310H Missense 6/12 - 1
11-93528144-G-T c.930G>T p.Q310H Missense 6/12 - 1
11-93528149-C-T c.935C>T p.S312F Missense 6/12 - 3
11-93528151-C-T c.937C>T p.R313W Missense 6/12 - 6
11-93528152-G-A c.938G>A p.R313Q Missense 6/12 - 1
11-93528158-C-T c.944C>T p.A315V Missense 6/12 - 1
11-93528165-A-C c.951A>C p.Q317H Missense 6/12 - 1
11-93528165-A-T c.951A>T p.Q317H Missense 6/12 - 1
11-93528166-A-G c.952A>G p.I318V Missense 6/12 - 1
11-93528169-A-G c.955A>G p.K319E Missense 6/12 - 1
11-93528171-A-C c.957A>C p.K319N Missense 6/12 - 1
11-93528171-A-T c.957A>T p.K319N Missense 6/12 - 1
11-93528173-CA-AT c.959_960delinsAT p.S320Y Missense 6/12 - 1
11-93528175-C-T c.961C>T p.Q321* Nonsense 6/12 - 1
11-93528177-A-C c.963A>C p.Q321H Missense 6/12 - 2
11-93528177-A-T c.963A>T p.Q321H Missense 6/12 - 3
11-93528181-C-T c.967C>T p.P323S Missense 6/12 - 1
11-93528185-A-C c.971A>C p.H324P Missense 6/12 - 1
11-93528190-GTG-ATC c.976_978delinsATC p.V326I Missense 6/12 - 1
11-93528192-G-A c.978G>A p.V326= Synonymous 6/12 - 1
11-93528192-G-C c.978G>C p.V326= Synonymous 6/12 - 5
11-93528192-G-T c.978G>T p.V326= Synonymous 6/12 - 1
11-93528193-G-A c.979G>A p.V327M Missense 6/12 - 1
11-93528200-A-G c.986A>G p.N329S Missense 6/12 - 1
11-93528201-C-A c.987C>A p.N329K Missense 6/12 - 1
11-93528201-C-G c.987C>G p.N329K Missense 6/12 - 1
11-93528203-A-G c.989A>G p.Q330R Missense 6/12 - 1
11-93528215-A-T c.1001A>T p.Q334L Missense 6/12 - 1
11-93528217-C-T c.1003C>T p.P335S Missense 6/12 - 1
11-93528220-T-C c.1006T>C p.F336L Missense 6/12 - 2
11-93528222-T-A c.1008T>A p.F336L Missense 6/12 - 1
11-93528222-T-G c.1008T>G p.F336L Missense 6/12 - 2
11-93528224-C-A c.1010C>A p.P337Q Missense 6/12 - 1
11-93528224-C-T c.1010C>T p.P337L Missense 6/12 - 4
11-93528227-G-A c.1012+1G>A - IntronicSNV - 6/11 1
11-93528228-T-A c.1012+2T>A - IntronicSNV - 6/11 1
11-93528379-A-G c.1012+153A>G - IntronicSNV - 6/11 1
11-93529434-T-C c.1013-142T>C - IntronicSNV - 6/11 1
11-93529576-G-T c.1013G>T p.S338I Missense 7/12 - 2
11-93529578-T-G c.1015T>G p.L339V Missense 7/12 - 1
11-93529579-T-C c.1016T>C p.L339S Missense 7/12 - 1
11-93529581-C-G c.1018C>G p.Q340E Missense 7/12 - 1
11-93529584-T-G c.1021T>G p.L341V Missense 7/12 - 1
11-93529591-T-C c.1028T>C p.I343T Missense 7/12 - 1
11-93529596-T-C c.1033T>C p.L345= Synonymous 7/12 - 1
11-93529598-G-A c.1035G>A p.L345= Synonymous 7/12 - 1
11-93529601-C-T c.1038C>T p.C346= Synonymous 7/12 - 1
11-93529603-A-G c.1040A>G p.H347R Missense 7/12 - 1
11-93529606-C-T c.1043C>T p.S348F Missense 7/12 - 2
11-93529609-C-A c.1046C>A p.S349* Nonsense 7/12 - 4
11-93529609-C-G c.1046C>G p.S349* Nonsense 7/12 - 4
11-93529609-C-T c.1046C>T p.S349L Missense 7/12 - 1
11-93529614-G-T c.1051G>T p.D351Y Missense 7/12 - 1
11-93529615-A-G c.1052A>G p.D351G Missense 7/12 - 1
11-93529615-A-T c.1052A>T p.D351V Missense 7/12 - 1
11-93529619-G-A c.1056G>A p.K352= Synonymous 7/12 - 1
11-93529624-C-G c.1061C>G p.S354C Missense 7/12 - 1
11-93529625-C-T c.1062C>T p.S354= Synonymous 7/12 - 2
11-93529627-A-C c.1064A>C p.Q355P Missense 7/12 - 1
11-93529628-A-C c.1065A>C p.Q355H Missense 7/12 - 1
11-93529628-A-T c.1065A>T p.Q355H Missense 7/12 - 1
11-93529632-T-A c.1069T>A p.F357I Missense 7/12 - 1
11-93529632-T-C c.1069T>C p.F357L Missense 7/12 - 1
11-93529634-T-G c.1071T>G p.F357L Missense 7/12 - 1
11-93529633-T-G c.1070T>G p.F357C Missense 7/12 - 3
11-93529634-T-A c.1071T>A p.F357L Missense 7/12 - 3
11-93529638-A-C c.1075A>C p.T359P Missense 7/12 - 1
11-93529638-A-G c.1075A>G p.T359A Missense 7/12 - 1
11-93529638-TA-T c.1075del p.T359Lfs*13 Frameshift 7/12 - 1
11-93529642-A-G c.1079A>G p.E360G Missense 7/12 - 1
11-93529643-G-T c.1080G>T p.E360D Missense 7/12 - 1
11-93529645-A-G c.1082A>G p.K361R Missense 7/12 - 1
11-93529646-G-C c.1083G>C p.K361N Missense 7/12 - 1
11-93529646-G-T c.1083G>T p.K361N Missense 7/12 - 1
11-93529648-A-G c.1085A>G p.Q362R Missense 7/12 - 1
11-93529654-C-G c.1091C>G p.P364R Missense 7/12 - 1
11-93529654-C-T c.1091C>T p.P364L Missense 7/12 - 1
11-93529655-G-A c.1092G>A p.P364= Synonymous 7/12 - 11
11-93529658-G-A c.1095G>A p.E365= Synonymous 7/12 - 1
11-93529660-A-G c.1097A>G p.D366G Missense 7/12 - 1
11-93529662-C-T c.1099C>T p.H367Y Missense 7/12 - 1
11-93529663-A-G c.1100A>G p.H367R Missense 7/12 - 1
11-93529668-T-C c.1105T>C p.Y369H Missense 7/12 - 1
11-93529669-A-G c.1106A>G p.Y369C Missense 7/12 - 3
11-93529671-G-A c.1108G>A p.V370I Missense 7/12 - 1
11-93529675-T-C c.1112T>C p.L371P Missense 7/12 - 11
11-93529684-A-G c.1121A>G p.N374S Missense 7/12 - 1
11-93529689-C-T c.1126C>T p.H376Y Missense 7/12 - 2
11-93529692-C-G c.1129C>G p.L377V Missense 7/12 - 3
11-93529702-G-C c.1139G>C p.R380T Missense 7/12 - 1
11-93529706-G-C c.1143G>C p.E381D Missense 7/12 - 2
11-93529706-G-T c.1143G>T p.E381D Missense 7/12 - 1
11-93530707-A-T c.1150A>T p.K384* Nonsense 8/12 - 1
11-93530709-A-G c.1152A>G p.K384= Synonymous 8/12 - 1
11-93530710-C-T c.1153C>T p.Q385* Nonsense 8/12 - 1
11-93530718-G-C c.1161G>C p.L387F Missense 8/12 - 1
11-93530718-G-T c.1161G>T p.L387F Missense 8/12 - 1
11-93530719-A-G c.1162A>G p.S388G Missense 8/12 - 1
11-93530723-C-T c.1166C>T p.S389F Missense 8/12 - 1
11-93530729-T-C c.1172T>C p.M391T Missense 8/12 - 1
11-93530730-G-C c.1173G>C p.M391I Missense 8/12 - 1
11-93530731-A-G c.1174A>G p.M392V Missense 8/12 - 1
11-93530734-C-T c.1177C>T p.P393S Missense 8/12 - 2
11-93530735-C-T c.1178C>T p.P393L Missense 8/12 - 1
11-93530737-C-T c.1180C>T p.H394Y Missense 8/12 - 1
11-93530740-C-T c.1183C>T p.P395S Missense 8/12 - 1
11-93530745-A-C c.1188A>C p.A396= Synonymous 8/12 - 1
11-93530745-A-G c.1188A>G p.A396= Synonymous 8/12 - 1
11-93530745-A-T c.1188A>T p.A396= Synonymous 8/12 - 1
11-93530749-G-A c.1192G>A p.A398T Missense 8/12 - 1
11-93530752-C-A c.1195C>A p.P399T Missense 8/12 - 1
11-93530753-C-G c.1196C>G p.P399R Missense 8/12 - 1
11-93530764-A-C c.1207A>C p.K403Q Missense 8/12 - 2
11-93530766-G-A c.1209G>A p.K403= Synonymous 8/12 - 3
11-93530774-G-C c.1217G>C p.R406T Missense 8/12 - 1
11-93530776-C-T c.1219C>T p.L407F Missense 8/12 - 1
11-93530780-C-T c.1223C>T p.S408L Missense 8/12 - 1
11-93530793-T-C c.1236T>C p.A412= Synonymous 8/12 - 1
11-93530797-G-C c.1240G>C p.D414H Missense 8/12 - 1
11-93530805-T-A c.1248T>A p.N416K Missense 8/12 - 1
11-93530806-G-T c.1249G>T p.E417* Nonsense 8/12 - 1
11-93530810-T-A c.1253T>A p.I418N Missense 8/12 - 1
11-93530810-T-G c.1253T>G p.I418S Missense 8/12 - 1
11-93530817-A-G c.1260A>G p.S420= Synonymous 8/12 - 1
11-93530824-T-G c.1267T>G p.S423A Missense 8/12 - 1
11-93530828-G-T c.1271G>T p.S424I Missense 8/12 - 1
11-93530829-T-A c.1272T>A p.S424R Missense 8/12 - 1
11-93530832-A-C c.1275A>C p.E425D Missense 8/12 - 1
11-93530832-A-T c.1275A>T p.E425D Missense 8/12 - 1
11-93530833-G-T c.1276G>T p.G426W Missense 8/12 - 2
11-93530834-G-T c.1277G>T p.G426V Missense 8/12 - 1
11-93530836-C-A c.1279C>A p.L427I Missense 8/12 - 1
11-93530853-T-A c.1296T>A p.I432= Synonymous 8/12 - 2
11-93530853-T-C c.1296T>C p.I432= Synonymous 8/12 - 2
11-93530853-TAAAC-T c.1299_1302del p.A435Sfs*5 Frameshift 8/12 - 1
11-93530856-A-C c.1299A>C p.K433N Missense 8/12 - 1
11-93530856-A-T c.1299A>T p.K433N Missense 8/12 - 1
11-93530857-C-A c.1300C>A p.Q434K Missense 8/12 - 1
11-93530864-A-G c.1307A>G p.K436R Missense 8/12 - 1
11-93530871-T-A c.1314T>A p.I438= Synonymous 8/12 - 1
11-93530878-AGG-TGT c.1321_1323delinsTGT p.R441C Missense 8/12 - 1
11-93534930-T-G c.1329-71T>G - IntronicSNV - 8/11 5
11-93534931-T-A c.1329-70T>A - IntronicSNV - 8/11 5
11-93534932-C-T c.1329-69C>T - IntronicSNV - 8/11 5
11-93534990-G-A c.1329-11G>A - IntronicSNV - 8/11 10
11-93535003-C-T c.1331C>T p.A444V Missense 9/12 - 1
11-93535013-C-T c.1341C>T p.T447= Synonymous 9/12 - 2
11-93535014-A-G c.1342A>G p.I448V Missense 9/12 - 1
11-93535027-C-A c.1355C>A p.A452E Missense 9/12 - 2
11-93535032-C-T c.1360C>T p.R454* Nonsense 9/12 - 1
11-93535033-G-A c.1361G>A p.R454Q Missense 9/12 - 2
11-93535035-A-G c.1363A>G p.I455V Missense 9/12 - 1
11-93535041-G-A c.1369G>A p.D457N Missense 9/12 - 1
11-93535044-C-G c.1372C>G p.P458A Missense 9/12 - 1
11-93535045-C-T c.1373C>T p.P458L Missense 9/12 - 1
11-93535048-A-G c.1376A>G p.Q459R Missense 9/12 - 1
11-93535055-G-A c.1383G>A p.Q461= Synonymous 9/12 - 1
11-93535056-G-A c.1384G>A p.A462T Missense 9/12 - 1
11-93535074-A-G c.1402A>G p.N468D Missense 9/12 - 1
11-93535075-A-G c.1403A>G p.N468S Missense 9/12 - 1
11-93535077-G-T c.1405G>T p.D469Y Missense 9/12 - 2
11-93535078-A-G c.1406A>G p.D469G Missense 9/12 - 1
11-93535080-G-A c.1408G>A p.V470I Missense 9/12 - 1
11-93535080-G-C c.1408G>C p.V470L Missense 9/12 - 1
11-93535086-G-A c.1414G>A p.E472K Missense 9/12 - 1
11-93535093-G-GCCA c.1421_1422insCCA p.S474_V475insH InFrameInsertion 9/12 - 1
11-93535097-G-A c.1425G>A p.V475= Synonymous 9/12 - 1
11-93535097-G-C c.1425G>C p.V475= Synonymous 9/12 - 1
11-93535097-G-T c.1425G>T p.V475= Synonymous 9/12 - 1
11-93535101-G-T c.1429G>T p.V477F Missense 9/12 - 1
11-93535102-T-C c.1430T>C p.V477A Missense 9/12 - 1
11-93535110-A-G c.1438A>G p.T480A Missense 9/12 - 2
11-93535133-A-C c.1461A>C p.I487= Synonymous 9/12 - 2
11-93535133-A-T c.1461A>T p.I487= Synonymous 9/12 - 2
11-93535134-T-C c.1462T>C p.C488R Missense 9/12 - 1
11-93535146-G-T c.1466+8G>T - IntronicSNV - 9/11 1
11-93535445-T-A c.1466+307T>A - IntronicSNV - 9/11 1
11-93535444-AT-A c.1466+314del - IntronicDeletion - 9/11 1
11-93538484-G-A c.1467-2200G>A - IntronicSNV - 9/11 1
11-93540686-C-T c.1469C>T p.S490F Missense 10/12 - 3
11-93540688-A-G c.1471A>G p.I491V Missense 10/12 - 1
11-93540695-T-A c.1478T>A p.L493Q Missense 10/12 - 1
11-93540699-A-G c.1482A>G p.Q494= Synonymous 10/12 - 1
11-93540699-A-T c.1482A>T p.Q494H Missense 10/12 - 1
11-93540701-T-G c.1484T>G p.L495W Missense 10/12 - 1
11-93540710-G-A c.1493G>A p.G498E Missense 10/12 - 1
11-93540715-G-C c.1498G>C p.E500Q Missense 10/12 - 2
11-93540722-T-C c.1505T>C p.I502T Missense 10/12 - 1
11-93540725-G-A c.1508G>A p.R503Q Missense 10/12 - 1
11-93540727-G-A c.1510G>A p.V504I Missense 10/12 - 1
11-93540734-A-G c.1517A>G p.H506R Missense 10/12 - 1
11-93540736-AG-CA c.1519_1520delinsCA p.R507Q Missense 10/12 - 1
11-93540749-T-C c.1532T>C p.V511A Missense 10/12 - 1
11-93540755-C-T c.1538C>T p.T513I Missense 10/12 - 1
11-93540756-A-G c.1539A>G p.T513= Synonymous 10/12 - 1
11-93540765-T-C c.1548T>C p.Y516= Synonymous 10/12 - 2
11-93540766-C-G c.1549C>G p.Q517E Missense 10/12 - 2
11-93540771-G-A c.1554G>A p.E518= Synonymous 10/12 - 1
11-93540778-CTA-TTT c.1561_1563delinsTTT p.L521F Missense 10/12 - 1
11-93540781-C-G c.1564C>G p.Q522E Missense 10/12 - 1
11-93540783-G-T c.1566G>T p.Q522H Missense 10/12 - 1
11-93540797-C-A c.1580C>A p.S527Y Missense 10/12 - 1
11-93540802-G-C c.1584+1G>C - IntronicSNV - 10/11 1
11-93540812-C-T c.1584+11C>T - IntronicSNV - 10/11 1
11-93540914-T-G c.1584+113T>G - IntronicSNV - 10/11 3
11-93542729-C-A c.1585-154C>A - IntronicSNV - 10/11 1
11-93542729-C-G c.1585-154C>G - IntronicSNV - 10/11 1
11-93542729-C-T c.1585-154C>T - IntronicSNV - 10/11 1
11-93542884-T-C c.1586T>C p.M529T Missense 11/12 - 1
11-93542890-A-T c.1592A>T p.Q531L Missense 11/12 - 4
11-93542891-G-A c.1593G>A p.Q531= Synonymous 11/12 - 1
11-93542895-C-T c.1597C>T p.Q533* Nonsense 11/12 - 1
11-93542897-G-A c.1599G>A p.Q533= Synonymous 11/12 - 1
11-93542901-C-T c.1603C>T p.H535Y Missense 11/12 - 1
11-93542904-G-A c.1606G>A p.A536T Missense 11/12 - 1
11-93542919-G-A c.1621G>A p.A541T Missense 11/12 - 1
11-93542925-GTT-ATG c.1627_1629delinsATG p.V543M Missense 11/12 - 1
11-93542932-G-T c.1634G>T p.G545V Missense 11/12 - 2
11-93542936-G-C c.1638G>C p.W546C Missense 11/12 - 2
11-93542936-G-T c.1638G>T p.W546C Missense 11/12 - 2
11-93542939-A-T c.1641A>T p.Q547H Missense 11/12 - 1
11-93542940-G-A c.1642G>A p.V548I Missense 11/12 - 1
11-93542940-G-C c.1642G>C p.V548L Missense 11/12 - 1
11-93542940-G-T c.1642G>T p.V548L Missense 11/12 - 1
11-93542943-C-A c.1645C>A p.L549M Missense 11/12 - 1
11-93542948-C-T c.1650C>T p.S550= Synonymous 11/12 - 1
11-93542956-A-G c.1658A>G p.N553S Missense 11/12 - 1
11-93542958-C-T c.1660C>T p.H554Y Missense 11/12 - 2
11-93542965-G-T c.1667G>T p.G556V Missense 11/12 - 1
11-93542966-A-C c.1668A>C p.G556= Synonymous 11/12 - 1
11-93542966-A-G c.1668A>G p.G556= Synonymous 11/12 - 1
11-93542966-A-T c.1668A>T p.G556= Synonymous 11/12 - 1
11-93542978-A-G c.1680A>G p.I560M Missense 11/12 - 2
11-93542979-G-A c.1681G>A p.E561K Missense 11/12 - 1
11-93542980-A-C c.1682A>C p.E561A Missense 11/12 - 1
11-93542995-C-T c.1697C>T p.A566V Missense 11/12 - 2
11-93542996-A-T c.1698A>T p.A566= Synonymous 11/12 - 2
11-93543005-C-A c.1707C>A p.I569= Synonymous 11/12 - 1
11-93543005-C-T c.1707C>T p.I569= Synonymous 11/12 - 3
11-93543006-ACG-GAC c.1708_1710delinsGAC p.T570D Missense 11/12 - 2
11-93543006-A-G c.1708A>G p.T570A Missense 11/12 - 1
11-93543007-C-T c.1709C>T p.T570M Missense 11/12 - 1
11-93543010-T-C c.1712T>C p.V571A Missense 11/12 - 1
11-93543018-C-T c.1720C>T p.P574S Missense 11/12 - 1
11-93543019-C-A c.1721C>A p.P574Q Missense 11/12 - 1
11-93543021-A-G c.1723A>G p.S575G Missense 11/12 - 1
11-93543022-G-T c.1724G>T p.S575I Missense 11/12 - 1
11-93543025-G-C c.1727G>C p.G576A Missense 11/12 - 1
11-93543026-T-A c.1728T>A p.G576= Synonymous 11/12 - 1
11-93543026-T-C c.1728T>C p.G576= Synonymous 11/12 - 1
11-93543026-T-G c.1728T>G p.G576= Synonymous 11/12 - 1
11-93543027-G-A c.1729G>A p.D577N Missense 11/12 - 2
11-93543033-G-T c.1735G>T p.A579S Missense 11/12 - 1
11-93543034-C-A c.1736C>A p.A579D Missense 11/12 - 2
11-93543036-A-G c.1738A>G p.I580V Missense 11/12 - 1
11-93543040-C-T c.1742C>T p.S581L Missense 11/12 - 3
11-93543042-G-T c.1744G>T p.V582F Missense 11/12 - 1
11-93543098-T-G c.1744+56T>G - IntronicSNV - 11/11 1
11-93543493-AAAAAT-A c.1744+454_1744+458del - IntronicDeletion - 11/11 1
11-93543504-T-TA c.1744+465dup - IntronicInsertion - 11/11 1
11-93545020-T-A c.1746T>A p.V582= Synonymous 12/12 - 1
11-93545021-C-T c.1747C>T p.R583C Missense 12/12 - 6
11-93545022-G-A c.1748G>A p.R583H Missense 12/12 - 7
11-93545022-G-C c.1748G>C p.R583P Missense 12/12 - 1
11-93545022-G-T c.1748G>T p.R583L Missense 12/12 - 1
11-93545030-C-A c.1756C>A p.P586T Missense 12/12 - 1
11-93545030-C-T c.1756C>T p.P586S Missense 12/12 - 3
11-93545031-C-A c.1757C>A p.P586H Missense 12/12 - 1
11-93545037-G-C c.1763G>C p.S588T Missense 12/12 - 1
11-93545046-A-G c.1772A>G p.K591R Missense 12/12 - 1
11-93545059-G-T c.1785G>T p.Q595H Missense 12/12 - 1
11-93545066-C-T c.1792C>T p.R598C Missense 12/12 - 1
11-93545067-G-A c.1793G>A p.R598H Missense 12/12 - 2
11-93545074-ATG-A c.1802_1803del p.C601* Frameshift 12/12 - 1
11-93545076-G-T c.1802G>T p.C601F Missense 12/12 - 1
11-93545082-A-G c.1808A>G p.D603G Missense 12/12 - 1
11-93545087-CC-TA c.1813_1814delinsTA p.P605* Nonsense 12/12 - 1
11-93545088-C-CA c.1819dup p.S607Kfs*2 Frameshift 12/12 - 1
11-93545108-G-T c.1834G>T p.D612Y Missense 12/12 - 3
11-93545123-C-A c.1849C>A p.H617N Missense 12/12 - 2
11-93545124-A-G c.1850A>G p.H617R Missense 12/12 - 1
11-93545126-C-T c.1852C>T p.L618F Missense 12/12 - 1
11-93545129-C-T c.1855C>T p.R619C Missense 12/12 - 2
11-93545130-G-A c.1856G>A p.R619H Missense 12/12 - 2
11-93545133-G-A c.1859G>A p.G620E Missense 12/12 - 1
11-93545134-G-A c.1860G>A p.G620= Synonymous 12/12 - 1
11-93545134-G-C c.1860G>C p.G620= Synonymous 12/12 - 1
11-93545134-G-T c.1860G>T p.G620= Synonymous 12/12 - 1
11-93545138-T-C c.1864T>C p.F622L Missense 12/12 - 1
11-93545140-C-A c.1866C>A p.F622L Missense 12/12 - 1
11-93545140-C-G c.1866C>G p.F622L Missense 12/12 - 1
11-93545142-A-G c.1868A>G p.K623R Missense 12/12 - 2
11-93545144-G-A c.1870G>A p.E624K Missense 12/12 - 2
11-93545149-T-C c.1875T>C p.V625= Synonymous 12/12 - 1
11-93545150-C-G c.1876C>G p.Q626E Missense 12/12 - 1
11-93545158-T-C c.1884T>C p.N628= Synonymous 12/12 - 1
11-93545165-G-T c.1891G>T p.E631* Nonsense 12/12 - 3
11-93545167-A-G c.1893A>G p.E631= Synonymous 12/12 - 1
11-93545168-G-T c.1894G>T p.G632C Missense 12/12 - 3
11-93545171-C-T c.1897C>T p.R633* Nonsense 12/12 - 3
11-93545172-G-A c.1898G>A p.R633Q Missense 12/12 - 4
11-93545177-T-C c.1903T>C p.F635L Missense 12/12 - 2
11-93545179-T-A c.1905T>A p.F635L Missense 12/12 - 1
11-93545179-T-G c.1905T>G p.F635L Missense 12/12 - 1
11-93545180-G-A c.1906G>A p.V636I Missense 12/12 - 1
11-93545192-G-A c.1918G>A p.E640K Missense 12/12 - 1
11-93545200-T-C c.1926T>C p.L642= Synonymous 12/12 - 1
11-93545203-G-A c.1929G>A p.M643I Missense 12/12 - 1
11-93545203-G-C c.1929G>C p.M643I Missense 12/12 - 1
11-93545203-G-T c.1929G>T p.M643I Missense 12/12 - 1
11-93545208-C-A c.1934C>A p.A645E Missense 12/12 - 1
11-93545208-C-T c.1934C>T p.A645V Missense 12/12 - 1
11-93545213-A-G c.1939A>G p.S647G Missense 12/12 - 1
11-93545222-C-G c.1948C>G p.L650V Missense 12/12 - 1
11-93545222-C-T c.1948C>T p.L650= Synonymous 12/12 - 1
11-93545223-T-C c.1949T>C p.L650P Missense 12/12 - 1
11-93545313-A-T c.*83A>T - 3-UTRSNV 12/12 - 1
11-93545420-T-C c.*190T>C - 3-UTRSNV 12/12 - 1
11-93546043-C-T c.*813C>T - 3-UTRSNV 12/12 - 1