METAP2

METAP2 methionyl aminopeptidase 2

Annotation transcript: NM_006838.4

426 unique variant annotations were identified in 250 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
12-95867959-G-A c.4G>A p.A2T Missense 1/11 - 1
12-95867960-C-T c.5C>T p.A2V Missense 1/11 - 1
12-95867962-G-C c.7G>C p.G3R Missense 1/11 - 1
12-95867963-G-C c.8G>C p.G3A Missense 1/11 - 1
12-95867964-T-A c.9T>A p.G3= Synonymous 1/11 - 2
12-95867964-T-C c.9T>C p.G3= Synonymous 1/11 - 2
12-95867964-T-G c.9T>G p.G3= Synonymous 1/11 - 5
12-95867965-G-A c.10G>A p.V4M Missense 1/11 - 1
12-95867967-G-A c.12G>A p.V4= Synonymous 1/11 - 1
12-95867967-G-C c.12G>C p.V4= Synonymous 1/11 - 1
12-95867967-G-T c.12G>T p.V4= Synonymous 1/11 - 1
12-95867968-G-A c.13G>A p.E5K Missense 1/11 - 2
12-95867978-C-G c.23C>G p.A8G Missense 1/11 - 1
12-95867980-G-A c.25G>A p.A9T Missense 1/11 - 1
12-95867984-C-A c.29C>A p.S10Y Missense 1/11 - 1
12-95867985-C-T c.30C>T p.S10= Synonymous 1/11 - 1
12-95867986-G-A c.31G>A p.G11R Missense 1/11 - 4
12-95867986-G-C c.31G>C p.G11R Missense 1/11 - 3
12-95867987-G-A c.32G>A p.G11E Missense 1/11 - 1
12-95868002-G-A c.47G>A p.G16D Missense 1/11 - 1
12-95868007-C-T c.52C>T p.L18= Synonymous 1/11 - 1
12-95868009-G-A c.54G>A p.L18= Synonymous 1/11 - 1
12-95868009-G-C c.54G>C p.L18= Synonymous 1/11 - 1
12-95868009-G-T c.54G>T p.L18= Synonymous 1/11 - 1
12-95868010-G-A c.55G>A p.D19N Missense 1/11 - 1
12-95868016-G-T c.61G>T p.D21Y Missense 1/11 - 1
12-95868018-C-A c.63C>A p.D21E Missense 1/11 - 1
12-95868018-C-G c.63C>G p.D21E Missense 1/11 - 1
12-95868021-C-A c.66C>A p.D22E Missense 1/11 - 1
12-95868021-C-G c.66C>G p.D22E Missense 1/11 - 1
12-95868023-G-A c.68G>A p.R23K Missense 1/11 - 1
12-95868028-G-C c.73G>C p.E25Q Missense 1/11 - 1
12-95868034-GC-AA c.79_80delinsAA p.A27N Missense 1/11 - 1
12-95868035-C-G c.80C>G p.A27G Missense 1/11 - 1
12-95868037-GC-CG c.82_83delinsCG p.A28R Missense 1/11 - 1
12-95868038-CC-AG c.83_84delinsAG p.A28E Missense 1/11 - 1
12-95868038-C-T c.83C>T p.A28V Missense 1/11 - 1
12-95868039-C-A c.84C>A p.A28= Synonymous 1/11 - 2
12-95868039-C-G c.84C>G p.A28= Synonymous 1/11 - 2
12-95868039-C-T c.84C>T p.A28= Synonymous 1/11 - 2
12-95868044-C-T c.89C>T p.T30M Missense 1/11 - 1
12-95868045-G-T c.90G>T p.T30= Synonymous 1/11 - 1
12-95868046-GCT-TAA c.91_93delinsTAA p.A31* Nonsense 1/11 - 1
12-95868047-C-T c.92C>T p.A31V Missense 1/11 - 1
12-95868049-G-A c.94G>A p.E32K Missense 1/11 - 1
12-95868049-GAG-TTT c.94_96delinsTTT p.E32F Missense 1/11 - 1
12-95868049-G-C c.94G>C p.E32Q Missense 1/11 - 2
12-95868051-G-C c.96G>C p.E32D Missense 1/11 - 2
12-95868051-G-T c.96G>T p.E32D Missense 1/11 - 1
12-95868063-G-GA c.115dup p.R39Kfs*19 Frameshift 1/11 - 2
12-95868070-AG-CA c.115_116delinsCA p.R39Q Missense 1/11 - 1
12-95868071-G-C c.116G>C p.R39T Missense 1/11 - 3
12-95868074-G-A c.119G>A p.R40Q Missense 1/11 - 1
12-95868078-G-A c.123G>A p.K41= Synonymous 1/11 - 1
12-95868078-G-C c.123G>C p.K41N Missense 1/11 - 1
12-95868078-G-T c.123G>T p.K41N Missense 1/11 - 1
12-95868086-AG-TC c.131_132delinsTC p.K44I Missense 1/11 - 1
12-95868098-C-T c.143C>T p.P48L Missense 1/11 - 1
12-95868101-C-A c.146C>A p.S49Y Missense 1/11 - 1
12-95868106-G-T c.151G>T p.A51S Missense 1/11 - 3
12-95869752-G-A c.152-95G>A - IntronicSNV - 1/10 1
12-95869850-G-A c.155G>A p.G52E Missense 2/11 - 2
12-95869852-G-A c.157G>A p.E53K Missense 2/11 - 1
12-95869854-A-G c.159A>G p.E53= Synonymous 2/11 - 2
12-95869856-A-T c.161A>T p.Q54L Missense 2/11 - 1
12-95869858-G-T c.163G>T p.E55* Nonsense 2/11 - 1
12-95869859-A-G c.164A>G p.E55G Missense 2/11 - 1
12-95869864-G-A c.169G>A p.D57N Missense 2/11 - 1
12-95869870-G-T c.175G>T p.E59* Nonsense 2/11 - 1
12-95869872-A-G c.177A>G p.E59= Synonymous 2/11 - 1
12-95869879-G-A c.184G>A p.A62T Missense 2/11 - 1
12-95869884-A-G c.189A>G p.S63= Synonymous 2/11 - 1
12-95869888-G-A c.193G>A p.D65N Missense 2/11 - 4
12-95869898-C-T c.203C>T p.A68V Missense 2/11 - 1
12-95869903-C-T c.208C>T p.Q70* Nonsense 2/11 - 1
12-95869908-G-C c.213G>C p.L71F Missense 2/11 - 1
12-95869908-G-T c.213G>T p.L71F Missense 2/11 - 1
12-95869912-A-G c.217A>G p.R73G Missense 2/11 - 1
12-95869916-CA-GT c.221_222delinsGT p.S74C Missense 2/11 - 1
12-95869916-C-G c.221C>G p.S74* Nonsense 2/11 - 4
12-95869918-G-A c.223G>A p.A75T Missense 2/11 - 3
12-95869927-G-A c.232G>A p.D78N Missense 2/11 - 1
12-95869931-A-C c.236A>C p.K79T Missense 2/11 - 1
12-95869940-A-T c.245A>T p.D82V Missense 2/11 - 1
12-95869942-G-A c.247G>A p.E83K Missense 2/11 - 1
12-95869945-G-A c.250G>A p.D84N Missense 2/11 - 1
12-95869948-G-A c.253G>A p.D85N Missense 2/11 - 1
12-95870015-GCA-G c.259+67_259+68del - IntronicDeletion - 2/10 1
12-95875555-G-T c.260-1436G>T - IntronicSNV - 2/10 1
12-95876032-C-T c.260-959C>T - IntronicSNV - 2/10 1
12-95876990-G-C c.260-1G>C - IntronicSNV - 2/10 1
12-95876992-T-TC c.261_262insC p.G88Rfs*35 SpliceAcceptorInsertion 3/11 - 1
12-95876993-G-T c.262G>T p.G88* Nonsense 3/11 - 1
12-95876994-G-A c.263G>A p.G88E Missense 3/11 - 1
12-95877002-G-A c.271G>A p.D91N Missense 3/11 - 1
12-95877005-G-C c.274G>C p.G92R Missense 3/11 - 1
12-95877005-GGA-TGT c.274_276delinsTGT p.G92C Missense 3/11 - 1
12-95877008-G-A c.277G>A p.D93N Missense 3/11 - 2
12-95877012-G-C c.281G>C p.G94A Missense 3/11 - 1
12-95877025-G-C c.294G>C p.K98N Missense 3/11 - 1
12-95877025-G-T c.294G>T p.K98N Missense 3/11 - 1
12-95877031-G-C c.300G>C p.K100N Missense 3/11 - 1
12-95877046-G-GT c.315_316insT p.K106* Nonsense 3/11 - 1
12-95877034-AAAG-A c.317_319del p.K106del InFrameDeletion 3/11 - 2
12-95877050-AGA-CAT c.319_321delinsCAT p.R107H Missense 3/11 - 1
12-95877051-G-A c.320G>A p.R107K Missense 3/11 - 1
12-95877047-AAG-A c.321_322del p.G108Tfs*14 Frameshift 3/11 - 1
12-95877056-C-T c.325C>T p.P109S Missense 3/11 - 1
12-95877089-T-A c.325+33T>A - IntronicSNV - 3/10 1
12-95877170-TGG-T c.325+114_325+115del - IntronicDeletion - 3/10 1
12-95878552-T-A c.326-1103T>A - IntronicSNV - 3/10 9
12-95878751-T-G c.326-904T>G - IntronicSNV - 3/10 4
12-95879657-A-G c.328A>G p.K110E Missense 4/11 - 3
12-95879659-A-G c.330A>G p.K110= Synonymous 4/11 - 1
12-95879666-A-G c.337A>G p.T113A Missense 4/11 - 1
12-95879667-C-T c.338C>T p.T113I Missense 4/11 - 1
12-95879672-C-T c.343C>T p.P115S Missense 4/11 - 4
12-95879676-C-T c.347C>T p.P116L Missense 4/11 - 2
12-95879678-CTCA-C c.349_351del p.S117del InFrameDeletion 4/11 - 1
12-95879679-C-T c.350C>T p.S117L Missense 4/11 - 2
12-95879681-G-A c.352G>A p.V118I Missense 4/11 - 1
12-95879681-G-C c.352G>C p.V118L Missense 4/11 - 1
12-95879682-T-C c.353T>C p.V118A Missense 4/11 - 2
12-95879684-C-G c.355C>G p.P119A Missense 4/11 - 1
12-95879684-C-T c.355C>T p.P119S Missense 4/11 - 1
12-95879686-A-C c.357A>C p.P119= Synonymous 4/11 - 2
12-95879686-A-G c.357A>G p.P119= Synonymous 4/11 - 2
12-95879686-A-T c.357A>T p.P119= Synonymous 4/11 - 2
12-95879687-A-G c.358A>G p.I120V Missense 4/11 - 2
12-95879689-A-G c.360A>G p.I120M Missense 4/11 - 1
12-95879696-C-A c.367C>A p.L123M Missense 4/11 - 3
12-95879702-C-T c.373C>T p.P125S Missense 4/11 - 2
12-95879711-G-A c.382G>A p.V128I Missense 4/11 - 2
12-95879713-A-G c.384A>G p.V128= Synonymous 4/11 - 1
12-95879717-C-T c.388C>T p.P130S Missense 4/11 - 2
12-95879718-CC-AA c.389_390delinsAA p.P130Q Missense 4/11 - 1
12-95879718-C-T c.389C>T p.P130L Missense 4/11 - 3
12-95879721-A-G c.392A>G p.K131R Missense 4/11 - 1
12-95879721-A-T c.392A>T p.K131I Missense 4/11 - 1
12-95879722-A-C c.393A>C p.K131N Missense 4/11 - 1
12-95879722-A-T c.393A>T p.K131N Missense 4/11 - 1
12-95879723-G-T c.394G>T p.G132* Nonsense 4/11 - 1
12-95879724-G-A c.395G>A p.G132E Missense 4/11 - 1
12-95879724-GA-AC c.395_396delinsAC p.G132D Missense 4/11 - 1
12-95879728-A-C c.399A>C p.Q133H Missense 4/11 - 1
12-95879728-A-T c.399A>T p.Q133H Missense 4/11 - 1
12-95879729-G-T c.400G>T p.E134* Nonsense 4/11 - 3
12-95879731-A-G c.402A>G p.E134= Synonymous 4/11 - 1
12-95879734-C-G c.405C>G p.C135W Missense 4/11 - 2
12-95879734-C-T c.405C>T p.C135= Synonymous 4/11 - 7
12-95879735-G-A c.406G>A p.E136K Missense 4/11 - 2
12-95879738-T-A c.409T>A p.Y137N Missense 4/11 - 3
12-95879743-A-C c.414A>C p.P138= Synonymous 4/11 - 3
12-95879743-A-G c.414A>G p.P138= Synonymous 4/11 - 3
12-95879743-A-T c.414A>T p.P138= Synonymous 4/11 - 3
12-95880067-T-TA c.428+311dup - IntronicInsertion - 4/10 1
12-95881787-T-A c.428+2030T>A - IntronicSNV - 4/10 1
12-95881837-T-G c.428+2080T>G - IntronicSNV - 4/10 1
12-95882657-T-TTC c.428+2900_428+2901insTC - IntronicInsertion - 4/10 1
12-95882657-T-TTCAC c.428+2900_428+2901insTCAC - IntronicInsertion - 4/10 1
12-95887833-C-T c.430C>T p.R144* Nonsense 5/11 - 3
12-95887834-G-A c.431G>A p.R144Q Missense 5/11 - 1
12-95887834-G-C c.431G>C p.R144P Missense 5/11 - 1
12-95887837-C-G c.434C>G p.T145R Missense 5/11 - 5
12-95887842-G-A c.439G>A p.A147T Missense 5/11 - 1
12-95887852-C-T c.449C>T p.T150I Missense 5/11 - 2
12-95887859-T-C c.456T>C p.S152= Synonymous 5/11 - 2
12-95887860-G-A c.457G>A p.E153K Missense 5/11 - 2
12-95887862-A-C c.459A>C p.E153D Missense 5/11 - 1
12-95887862-A-T c.459A>T p.E153D Missense 5/11 - 1
12-95887865-A-C c.462A>C p.E154D Missense 5/11 - 1
12-95887865-A-T c.462A>T p.E154D Missense 5/11 - 1
12-95887866-A-C c.463A>C p.K155Q Missense 5/11 - 3
12-95887868-G-C c.465G>C p.K155N Missense 5/11 - 1
12-95887868-G-T c.465G>T p.K155N Missense 5/11 - 1
12-95887876-T-C c.473T>C p.L158S Missense 5/11 - 3
12-95887879-A-G c.476A>G p.D159G Missense 5/11 - 1
12-95887880-T-A c.477T>A p.D159E Missense 5/11 - 1
12-95887890-G-A c.487G>A p.E163K Missense 5/11 - 1
12-95887911-C-T c.508C>T p.R170* Nonsense 5/11 - 2
12-95887911-CGA-C c.511_512del p.E171Sfs*9 Frameshift 5/11 - 1
12-95887921-C-T c.518C>T p.A173V Missense 5/11 - 1
12-95887923-G-T c.520G>T p.E174* Nonsense 5/11 - 1
12-95887926-G-T c.523G>T p.A175S Missense 5/11 - 1
12-95887929-C-G c.526C>G p.H176D Missense 5/11 - 1
12-95887934-A-C c.531A>C p.R177= Synonymous 5/11 - 1
12-95887937-A-C c.534A>C p.Q178H Missense 5/11 - 1
12-95887949-C-T c.546C>T p.Y182= Synonymous 5/11 - 1
12-95887950-G-A c.547G>A p.V183I Missense 5/11 - 1
12-95887953-A-C c.550A>C p.M184L Missense 5/11 - 1
12-95887961-G-A c.558G>A p.W186* Nonsense 5/11 - 1
12-95887963-T-G c.560T>G p.I187S Missense 5/11 - 1
12-95887965-A-G c.562A>G p.K188E Missense 5/11 - 1
12-95887969-C-T c.566C>T p.P189L Missense 5/11 - 1
12-95887980-A-C c.577A>C p.M193L Missense 5/11 - 1
12-95887980-A-T c.577A>T p.M193L Missense 5/11 - 1
12-95887982-G-A c.579G>A p.M193I Missense 5/11 - 1
12-95887982-G-C c.579G>C p.M193I Missense 5/11 - 1
12-95887982-G-T c.579G>T p.M193I Missense 5/11 - 1
12-95887983-A-G c.580A>G p.I194V Missense 5/11 - 1
12-95887994-G-T c.590+1G>T - IntronicSNV - 5/10 1
12-95887995-T-G c.590+2T>G - IntronicSNV - 5/10 1
12-95887997-A-T c.590+4A>T - IntronicSNV - 5/10 1
12-95888603-G-A c.591-130G>A - IntronicSNV - 5/10 1
12-95888733-T-C c.591T>C p.C197= Synonymous 6/11 - 1
12-95888734-G-T c.592G>T p.E198* Nonsense 6/11 - 3
12-95888739-G-A c.597G>A p.K199= Synonymous 6/11 - 1
12-95888752-TC-AT c.610_611delinsAT p.S204I Missense 6/11 - 1
12-95888755-C-T c.613C>T p.R205C Missense 6/11 - 1
12-95888756-G-A c.614G>A p.R205H Missense 6/11 - 4
12-95888757-C-A c.615C>A p.R205= Synonymous 6/11 - 1
12-95888757-C-G c.615C>G p.R205= Synonymous 6/11 - 1
12-95888757-C-T c.615C>T p.R205= Synonymous 6/11 - 2
12-95888766-A-G c.624A>G p.I208M Missense 6/11 - 1
12-95888768-A-T c.626A>T p.K209I Missense 6/11 - 1
12-95888794-G-A c.652G>A p.A218T Missense 6/11 - 1
12-95888806-G-T c.664G>T p.G222* Nonsense 6/11 - 4
12-95888811-T-C c.669T>C p.C223= Synonymous 6/11 - 1
12-95888812-T-C c.670T>C p.S224P Missense 6/11 - 1
12-95888822-A-G c.680A>G p.N227S Missense 6/11 - 3
12-95888830-G-T c.688G>T p.A230S Missense 6/11 - 1
12-95888843-C-T c.701C>T p.P234L Missense 6/11 - 2
12-95888851-G-A c.709G>A p.G237S Missense 6/11 - 1
12-95888854-G-A c.712G>A p.D238N Missense 6/11 - 1
12-95888871-G-A c.729G>A p.Q243= Synonymous 6/11 - 3
12-95888872-T-C c.730T>C p.Y244H Missense 6/11 - 1
12-95888873-A-T c.731A>T p.Y244F Missense 6/11 - 1
12-95888876-A-T c.734A>T p.D245V Missense 6/11 - 2
12-95888899-GGA-AGC c.757_759delinsAGC p.G253S Missense 6/11 - 1
12-95888899-GG-CT c.757_758delinsCT p.G253L Missense 6/11 - 1
12-95888899-G-T c.757G>T p.G253* Nonsense 6/11 - 3
12-95888900-G-T c.758G>T p.G253V Missense 6/11 - 3
12-95888909-T-A c.767T>A p.I256K Missense 6/11 - 1
12-95888909-T-C c.767T>C p.I256T Missense 6/11 - 2
12-95889033-T-C c.772+119T>C - IntronicSNV - 6/10 1
12-95889783-G-T c.776G>T p.R259M Missense 7/11 - 1
12-95889794-TG-GC c.787_788delinsGC p.C263A Missense 7/11 - 1
12-95889795-G-A c.788G>A p.C263Y Missense 7/11 - 1
12-95889796-T-C c.789T>C p.C263= Synonymous 7/11 - 1
12-95889797-G-T c.790G>T p.A264S Missense 7/11 - 1
12-95889798-C-T c.791C>T p.A264V Missense 7/11 - 3
12-95889816-A-T c.809A>T p.N270I Missense 7/11 - 1
12-95889817-T-A c.810T>A p.N270K Missense 7/11 - 1
12-95889817-T-G c.810T>G p.N270K Missense 7/11 - 1
12-95889818-CC-TT c.811_812delinsTT p.P271F Missense 7/11 - 1
12-95889823-A-C c.816A>C p.K272N Missense 7/11 - 1
12-95889823-A-T c.816A>T p.K272N Missense 7/11 - 1
12-95889827-G-A c.820G>A p.D274N Missense 7/11 - 2
12-95889828-A-G c.821A>G p.D274G Missense 7/11 - 1
12-95889831-C-A c.824C>A p.T275K Missense 7/11 - 1
12-95889831-C-T c.824C>T p.T275M Missense 7/11 - 1
12-95889852-A-T c.845A>T p.D282V Missense 7/11 - 1
12-95889857-A-T c.850A>T p.T284S Missense 7/11 - 1
12-95889858-C-G c.851C>G p.T284S Missense 7/11 - 1
12-95889860-A-G c.853A>G p.N285D Missense 7/11 - 1
12-95889867-G-A c.860G>A p.G287E Missense 7/11 - 1
12-95889867-G-T c.860G>T p.G287V Missense 7/11 - 1
12-95889871-A-C c.864A>C p.I288= Synonymous 7/11 - 1
12-95889872-A-C c.865A>C p.K289Q Missense 7/11 - 1
12-95889874-G-T c.867G>T p.K289N Missense 7/11 - 1
12-95889894-C-T c.867+20C>T - IntronicSNV - 7/10 1
12-95889923-A-G c.867+49A>G - IntronicSNV - 7/10 4
12-95890218-T-C c.867+344T>C - IntronicSNV - 7/10 1
12-95890413-A-T c.867+539A>T - IntronicSNV - 7/10 1
12-95893609-G-A c.867+3735G>A - IntronicSNV - 7/10 1
12-95893609-G-C c.867+3735G>C - IntronicSNV - 7/10 1
12-95894247-T-C c.868-3594T>C - IntronicSNV - 7/10 1
12-95894581-A-C c.868-3260A>C - IntronicSNV - 7/10 1
12-95896692-A-G c.868-1149A>G - IntronicSNV - 7/10 1
12-95896692-A-T c.868-1149A>T - IntronicSNV - 7/10 1
12-95897348-G-A c.868-493G>A - IntronicSNV - 7/10 1
12-95897348-G-T c.868-493G>T - IntronicSNV - 7/10 1
12-95897841-T-G c.868T>G p.C290G Missense 8/11 - 1
12-95897844-G-T c.871G>T p.A291S Missense 8/11 - 1
12-95897860-G-A c.887G>A p.R296H Missense 8/11 - 2
12-95897862-C-T c.889C>T p.L297= Synonymous 8/11 - 1
12-95897864-G-A c.891G>A p.L297= Synonymous 8/11 - 1
12-95897864-G-C c.891G>C p.L297= Synonymous 8/11 - 1
12-95897864-G-T c.891G>T p.L297= Synonymous 8/11 - 1
12-95897867-T-C c.894T>C p.C298= Synonymous 8/11 - 1
12-95897874-G-A c.901G>A p.G301S Missense 8/11 - 5
12-95897875-G-A c.902G>A p.G301D Missense 8/11 - 1
12-95897881-C-T c.908C>T p.A303V Missense 8/11 - 4
12-95897883-A-G c.910A>G p.I304V Missense 8/11 - 1
12-95897898-G-T c.925G>T p.E309* Nonsense 8/11 - 1
12-95897901-TC-AA c.928_929delinsAA p.S310N Missense 8/11 - 1
12-95897910-G-GCAC c.937_938insCAC p.V313delinsAL MultiAAMissense 8/11 - 1
12-95897927-G-A c.954G>A p.K318= Synonymous 8/11 - 1
12-95897932-A-G c.959A>G p.Y320C Missense 8/11 - 1
12-95897997-T-C c.964+60T>C - IntronicSNV - 8/10 8
12-95898113-C-A c.964+176C>A - IntronicSNV - 8/10 1
12-95899173-G-A c.964+1236G>A - IntronicSNV - 8/10 1
12-95899714-CA-C c.964+1787del - IntronicDeletion - 8/10 1
12-95901434-C-A c.964+3497C>A - IntronicSNV - 8/10 1
12-95901946-A-G c.965-3725A>G - IntronicSNV - 8/10 1
12-95905364-C-T c.965-307C>T - IntronicSNV - 8/10 1
12-95905672-G-T c.966G>T p.V322= Synonymous 9/11 - 1
12-95905673-A-T c.967A>T p.K323* Nonsense 9/11 - 5
12-95905674-A-G c.968A>G p.K323R Missense 9/11 - 1
12-95905675-A-C c.969A>C p.K323N Missense 9/11 - 1
12-95905678-A-C c.972A>C p.P324= Synonymous 9/11 - 3
12-95905678-A-G c.972A>G p.P324= Synonymous 9/11 - 1
12-95905678-A-T c.972A>T p.P324= Synonymous 9/11 - 1
12-95905681-C-T c.975C>T p.I325= Synonymous 9/11 - 1
12-95905682-C-T c.976C>T p.R326C Missense 9/11 - 1
12-95905696-A-G c.990A>G p.G330= Synonymous 9/11 - 1
12-95905697-C-A c.991C>A p.H331N Missense 9/11 - 1
12-95905700-T-C c.994T>C p.S332P Missense 9/11 - 1
12-95905701-C-A c.995C>A p.S332* Nonsense 9/11 - 3
12-95905701-C-G c.995C>G p.S332* Nonsense 9/11 - 2
12-95905701-C-T c.995C>T p.S332L Missense 9/11 - 1
12-95905715-AGA-CAT c.1009_1011delinsCAT p.R337H Missense 9/11 - 1
12-95905716-G-C c.1010G>C p.R337T Missense 9/11 - 1
12-95905716-G-T c.1010G>T p.R337I Missense 9/11 - 2
12-95905718-A-G c.1012A>G p.I338V Missense 9/11 - 1
12-95905722-A-C c.1016A>C p.H339P Missense 9/11 - 1
12-95905722-A-G c.1016A>G p.H339R Missense 9/11 - 2
12-95905726-T-C c.1020T>C p.A340= Synonymous 9/11 - 1
12-95905727-G-A c.1021G>A p.G341R Missense 9/11 - 1
12-95905727-G-T c.1021G>T p.G341* Nonsense 9/11 - 2
12-95905728-G-T c.1022G>T p.G341V Missense 9/11 - 1
12-95905753-A-T c.1047A>T p.G349= Synonymous 9/11 - 1
12-95905756-G-A c.1050G>A p.G350= Synonymous 9/11 - 1
12-95905756-G-C c.1050G>C p.G350= Synonymous 9/11 - 1
12-95905756-G-T c.1050G>T p.G350= Synonymous 9/11 - 1
12-95905757-G-A c.1051G>A p.E351K Missense 9/11 - 2
12-95905771-G-A c.1065G>A p.M355I Missense 9/11 - 1
12-95905773-A-T c.1067A>T p.E356V Missense 9/11 - 1
12-95906232-C-T c.1069-345C>T - IntronicSNV - 9/10 1
12-95906552-C-T c.1069-25C>T - IntronicSNV - 9/10 1
12-95906587-T-C c.1079T>C p.V360A Missense 10/11 - 2
12-95906588-A-G c.1080A>G p.V360= Synonymous 10/11 - 1
12-95906598-GA-G c.1093del p.T365Pfs*20 Frameshift 10/11 - 1
12-95906601-A-G c.1093A>G p.T365A Missense 10/11 - 3
12-95906602-C-T c.1094C>T p.T365I Missense 10/11 - 2
12-95906603-C-A c.1095C>A p.T365= Synonymous 10/11 - 13
12-95906605-T-G c.1097T>G p.F366C Missense 10/11 - 1
12-95906608-G-T c.1100G>T p.G367V Missense 10/11 - 1
12-95906616-G-A c.1108G>A p.G370R Missense 10/11 - 2
12-95906616-G-C c.1108G>C p.G370R Missense 10/11 - 2
12-95906620-A-G c.1112A>G p.K371R Missense 10/11 - 1
12-95906625-G-A c.1117G>A p.V373I Missense 10/11 - 1
12-95906629-T-C c.1121T>C p.V374A Missense 10/11 - 2
12-95906630-T-A c.1122T>A p.V374= Synonymous 10/11 - 1
12-95906632-A-G c.1124A>G p.H375R Missense 10/11 - 2
12-95906636-T-C c.1128T>C p.D376= Synonymous 10/11 - 1
12-95906636-T-G c.1128T>G p.D376E Missense 10/11 - 1
12-95906639-T-C c.1131T>C p.D377= Synonymous 10/11 - 1
12-95906648-T-C c.1140T>C p.C380= Synonymous 10/11 - 3
12-95906650-C-A c.1142C>A p.S381* Nonsense 10/11 - 2
12-95906650-C-G c.1142C>G p.S381* Nonsense 10/11 - 4
12-95906653-AT-A c.1147del p.Y383Tfs*2 Frameshift 10/11 - 1
12-95906658-A-G c.1150A>G p.M384V Missense 10/11 - 3
12-95906666-T-A c.1158T>A p.N386K Missense 10/11 - 1
12-95906666-T-G c.1158T>G p.N386K Missense 10/11 - 2
12-95906667-T-G c.1159T>G p.F387V Missense 10/11 - 5
12-95906669-T-C c.1161T>C p.F387= Synonymous 10/11 - 1
12-95906671-A-T c.1163A>T p.D388V Missense 10/11 - 2
12-95906677-G-C c.1169G>C p.G390A Missense 10/11 - 1
12-95906677-G-T c.1169G>T p.G390V Missense 10/11 - 2
12-95906692-G-A c.1184G>A p.R395K Missense 10/11 - 1
12-95906717-A-G c.1184+25A>G - IntronicSNV - 10/10 1
12-95907390-C-T c.1185-38C>T - IntronicSNV - 10/10 1
12-95906691-A-C c.1183A>C p.R395= Synonymous 10/11 - 1
12-95907428-G-A c.1185G>A p.R395= Synonymous 11/11 - 1
12-95907430-T-C c.1187T>C p.L396P Missense 11/11 - 1
12-95907432-C-T c.1189C>T p.P397S Missense 11/11 - 4
12-95907438-A-G c.1195A>G p.T399A Missense 11/11 - 1
12-95907441-A-T c.1198A>T p.K400* Nonsense 11/11 - 1
12-95907446-C-A c.1203C>A p.H401Q Missense 11/11 - 1
12-95907446-C-G c.1203C>G p.H401Q Missense 11/11 - 1
12-95907463-A-G c.1220A>G p.N407S Missense 11/11 - 2
12-95907464-T-C c.1221T>C p.N407= Synonymous 11/11 - 1
12-95907465-G-T c.1222G>T p.E408* Nonsense 11/11 - 1
12-95907473-T-C c.1230T>C p.F410= Synonymous 11/11 - 1
12-95907476-A-T c.1233A>T p.G411= Synonymous 11/11 - 1
12-95907481-T-C c.1238T>C p.L413P Missense 11/11 - 5
12-95907488-C-T c.1245C>T p.F415= Synonymous 11/11 - 1
12-95907492-C-T c.1249C>T p.R417C Missense 11/11 - 1
12-95907493-G-A c.1250G>A p.R417H Missense 11/11 - 4
12-95907494-C-A c.1251C>A p.R417= Synonymous 11/11 - 1
12-95907496-G-A c.1253G>A p.R418K Missense 11/11 - 3
12-95907496-G-C c.1253G>C p.R418T Missense 11/11 - 1
12-95907496-G-T c.1253G>T p.R418I Missense 11/11 - 1
12-95907497-A-G c.1254A>G p.R418= Synonymous 11/11 - 1
12-95907501-C-A c.1258C>A p.L420M Missense 11/11 - 1
12-95907507-C-T c.1264C>T p.R422C Missense 11/11 - 3
12-95907508-G-A c.1265G>A p.R422H Missense 11/11 - 1
12-95907516-G-A c.1273G>A p.E425K Missense 11/11 - 2
12-95907524-A-G c.1281A>G p.K427= Synonymous 11/11 - 1
12-95907530-G-A c.1287G>A p.L429= Synonymous 11/11 - 1
12-95907531-A-G c.1288A>G p.M430V Missense 11/11 - 1
12-95907560-C-A c.1317C>A p.G439= Synonymous 11/11 - 1
12-95907560-C-G c.1317C>G p.G439= Synonymous 11/11 - 1
12-95907560-C-T c.1317C>T p.G439= Synonymous 11/11 - 1
12-95907568-A-G c.1325A>G p.D442G Missense 11/11 - 1
12-95907570-C-A c.1327C>A p.P443T Missense 11/11 - 1
12-95907571-C-T c.1328C>T p.P443L Missense 11/11 - 3
12-95907573-T-C c.1330T>C p.Y444H Missense 11/11 - 1
12-95907581-A-T c.1338A>T p.P446= Synonymous 11/11 - 1
12-95907594-A-G c.1351A>G p.K451E Missense 11/11 - 2
12-95907598-G-A c.1355G>A p.G452E Missense 11/11 - 1
12-95907611-G-A c.1368G>A p.A456= Synonymous 11/11 - 3
12-95907611-G-C c.1368G>C p.A456= Synonymous 11/11 - 1
12-95907611-G-T c.1368G>T p.A456= Synonymous 11/11 - 2
12-95907615-T-G c.1372T>G p.F458V Missense 11/11 - 3
12-95907618-TGAA-T c.1375_1377del p.E459del InFrameDeletion 11/11 - 1
12-95907624-A-G c.1381A>G p.T461A Missense 11/11 - 1
12-95907636-C-T c.1393C>T p.R465C Missense 11/11 - 2
12-95907642-A-G c.1399A>G p.T467A Missense 11/11 - 2
12-95907662-C-A c.1419C>A p.S473R Missense 11/11 - 1
12-95907662-C-T c.1419C>T p.S473= Synonymous 11/11 - 1
12-95907663-AGA-CAT c.1420_1422delinsCAT p.R474H Missense 11/11 - 1
12-95907666-G-A c.1423G>A p.G475R Missense 11/11 - 2
12-95907666-G-C c.1423G>C p.G475R Missense 11/11 - 2
12-95907668-A-C c.1425A>C p.G475= Synonymous 11/11 - 1
12-95907668-A-G c.1425A>G p.G475= Synonymous 11/11 - 1
12-95907668-A-T c.1425A>T p.G475= Synonymous 11/11 - 1
12-95907669-G-A c.1426G>A p.D476N Missense 11/11 - 1
12-95907674-C-A c.1431C>A p.D477E Missense 11/11 - 1
12-95907674-C-G c.1431C>G p.D477E Missense 11/11 - 1
12-95907834-A-G c.*154A>G - 3-UTRSNV 11/11 - 3
12-95907857-C-T c.*177C>T - 3-UTRSNV 11/11 - 1
12-95909059-G-A c.*1379G>A - 3-UTRSNV 11/11 - 1
12-95909059-G-C c.*1379G>C - 3-UTRSNV 11/11 - 1
12-95909241-G-A c.*1561G>A - 3-UTRSNV 11/11 - 1