GSTP1

GSTP1 glutathione S-transferase pi 1

Annotation transcript: NM_000852.4

484 unique variant annotations were identified in 684 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
11-67351297-G-A c.-18G>A - 5-UTRSNV 1/7 - 12
11-67351315-A-G c.1A>G p.M1? Missense 1/7 - 3
11-67351529-A-AC c.2-76_2-75insC - IntronicInsertion - 1/6 7
11-67351529-A-AT c.2-76_2-75insT - IntronicInsertion - 1/6 7
11-67351530-G-GA c.2-75_2-74insA - IntronicInsertion - 1/6 1
11-67351530-G-GC c.2-75_2-74insC - IntronicInsertion - 1/6 1
11-67351530-G-GT c.2-75_2-74insT - IntronicInsertion - 1/6 1
11-67351531-G-A c.2-74G>A - IntronicSNV - 1/6 9
11-67351531-G-GA c.2-74_2-73insA - IntronicInsertion - 1/6 1
11-67351531-G-GT c.2-74_2-73insT - IntronicInsertion - 1/6 1
11-67351531-G-T c.2-74G>T - IntronicSNV - 1/6 9
11-67351540-A-G c.2-65A>G - IntronicSNV - 1/6 12
11-67351540-A-T c.2-65A>T - IntronicSNV - 1/6 12
11-67351585-C-G c.2-20C>G - IntronicSNV - 1/6 32
11-67351604-G-A c.2-1G>A - IntronicSNV - 1/6 1
11-67351604-G-C c.2-1G>C - IntronicSNV - 1/6 1
11-67351606-G-A c.3G>A p.M1? Missense 2/7 - 1
11-67351609-G-A c.6G>A p.P2= Synonymous 2/7 - 1
11-67351609-G-C c.6G>C p.P2= Synonymous 2/7 - 1
11-67351609-G-T c.6G>T p.P2= Synonymous 2/7 - 1
11-67351612-C-A c.9C>A p.P3= Synonymous 2/7 - 2
11-67351612-C-G c.9C>G p.P3= Synonymous 2/7 - 2
11-67351612-C-T c.9C>T p.P3= Synonymous 2/7 - 2
11-67351613-T-C c.10T>C p.Y4H Missense 2/7 - 1
11-67351618-C-T c.15C>T p.T5= Synonymous 2/7 - 1
11-67351619-G-A c.16G>A p.V6M Missense 2/7 - 1
11-67351622-G-A c.19G>A p.V7I Missense 2/7 - 1
11-67351624-C-G c.21C>G p.V7= Synonymous 2/7 - 4
11-67351626-A-G c.23A>G p.Y8C Missense 2/7 - 1
11-67351629-T-A c.26T>A p.F9Y Missense 2/7 - 2
11-67351631-C-T c.28C>T p.P10S Missense 2/7 - 1
11-67351632-C-T c.29C>T p.P10L Missense 2/7 - 1
11-67351634-G-A c.31G>A p.V11I Missense 2/7 - 1
11-67351637-C-G c.34C>G p.R12G Missense 2/7 - 2
11-67351637-C-T c.34C>T p.R12* Nonsense 2/7 - 2
11-67351638-G-A c.35G>A p.R12Q Missense 2/7 - 1
11-67351638-G-C c.35G>C p.R12P Missense 2/7 - 1
11-67351674-G-A c.37+34G>A - IntronicSNV - 2/6 3
11-67351699-C-A c.37+59C>A - IntronicSNV - 2/6 1
11-67351702-C-T c.37+62C>T - IntronicSNV - 2/6 1
11-67351709-C-T c.37+69C>T - IntronicSNV - 2/6 1
11-67351774-C-T c.37+134C>T - IntronicSNV - 2/6 5
11-67351827-G-C c.38-108G>C - IntronicSNV - 2/6 4
11-67351935-G-A c.38G>A p.G13D Missense 3/7 - 2
11-67351937-CGC-TGA c.40_42delinsTGA p.R14* Nonsense 3/7 - 1
11-67351937-C-T c.40C>T p.R14C Missense 3/7 - 1
11-67351940-TG-CA c.43_44inv p.C15H Missense 3/7 - 1
11-67351942-C-T c.45C>T p.C15= Synonymous 3/7 - 3
11-67351943-GCG-TAT c.46_48delinsTAT p.A16Y Missense 3/7 - 1
11-67351943-GC-TA c.46_47delinsTA p.A16* Nonsense 3/7 - 3
11-67351944-CG-AC c.47_48delinsAC p.A16D Missense 3/7 - 1
11-67351944-C-T c.47C>T p.A16V Missense 3/7 - 24
11-67351945-G-A c.48G>A p.A16= Synonymous 3/7 - 2
11-67351945-G-C c.48G>C p.A16= Synonymous 3/7 - 2
11-67351945-G-T c.48G>T p.A16= Synonymous 3/7 - 2
11-67351946-G-A c.49G>A p.A17T Missense 3/7 - 1
11-67351946-GC-AA c.49_50delinsAA p.A17N Missense 3/7 - 1
11-67351946-GCC-ATG c.49_51delinsATG p.A17M Missense 3/7 - 1
11-67351946-GCC-CAA c.49_51delinsCAA p.A17Q Missense 3/7 - 2
11-67351946-GC-TG c.49_50delinsTG p.A17C Missense 3/7 - 1
11-67351946-G-T c.49G>T p.A17S Missense 3/7 - 1
11-67351947-C-A c.50C>A p.A17D Missense 3/7 - 1
11-67351947-C-T c.50C>T p.A17V Missense 3/7 - 3
11-67351949-CT-GC c.52_53delinsGC p.L18A Missense 3/7 - 2
11-67351952-C-T c.55C>T p.R19C Missense 3/7 - 2
11-67351952-GCGC-G c.55_57del p.R19del InFrameDeletion 3/7 - 2
11-67351954-C-A c.57C>A p.R19= Synonymous 3/7 - 1
11-67351954-C-G c.57C>G p.R19= Synonymous 3/7 - 1
11-67351954-C-T c.57C>T p.R19= Synonymous 3/7 - 1
11-67351955-A-G c.58A>G p.M20V Missense 3/7 - 1
11-67351955-A-T c.58A>T p.M20L Missense 3/7 - 1
11-67351955-AT-GC c.58_59delinsGC p.M20A Missense 3/7 - 3
11-67351956-T-A c.59T>A p.M20K Missense 3/7 - 1
11-67351958-CTG-TTT c.61_63delinsTTT p.L21F Missense 3/7 - 1
11-67351959-T-G c.62T>G p.L21R Missense 3/7 - 1
11-67351961-C-A c.64C>A p.L22M Missense 3/7 - 1
11-67351964-GCA-ATG c.67_69delinsATG p.A23M Missense 3/7 - 1
11-67351964-G-T c.67G>T p.A23S Missense 3/7 - 5
11-67351965-C-G c.68C>G p.A23G Missense 3/7 - 7
11-67351965-C-T c.68C>T p.A23V Missense 3/7 - 1
11-67351966-A-C c.69A>C p.A23= Synonymous 3/7 - 1
11-67351966-A-G c.69A>G p.A23= Synonymous 3/7 - 1
11-67351966-A-T c.69A>T p.A23= Synonymous 3/7 - 1
11-67351970-C-G c.73C>G p.Q25E Missense 3/7 - 1
11-67351976-C-G c.79C>G p.Q27E Missense 3/7 - 2
11-67351977-A-G c.80A>G p.Q27R Missense 3/7 - 1
11-67351980-G-A c.83G>A p.S28N Missense 3/7 - 1
11-67351987-G-A c.90G>A p.K30= Synonymous 3/7 - 1
11-67351988-G-C c.91G>C p.E31Q Missense 3/7 - 1
11-67351991-G-A c.94G>A p.E32K Missense 3/7 - 1
11-67351992-A-G c.95A>G p.E32G Missense 3/7 - 1
11-67351992-A-T c.95A>T p.E32V Missense 3/7 - 4
11-67351995-T-C c.98T>C p.V33A Missense 3/7 - 1
11-67351997-G-C c.100G>C p.V34L Missense 3/7 - 1
11-67351997-G-T c.100G>T p.V34L Missense 3/7 - 1
11-67352000-A-T c.103A>T p.T35S Missense 3/7 - 1
11-67352001-C-G c.104C>G p.T35S Missense 3/7 - 1
11-67352002-C-A c.105C>A p.T35= Synonymous 3/7 - 1
11-67352004-T-C c.107T>C p.V36A Missense 3/7 - 1
11-67352006-G-C c.109G>C p.E37Q Missense 3/7 - 1
11-67352009-AC-GG c.112_113delinsGG p.T38G Missense 3/7 - 1
11-67352016-A-G c.119A>G p.Q40R Missense 3/7 - 1
11-67352015-CAGG-C c.122_124del p.E41del InFrameDeletion 3/7 - 1
11-67352019-A-G c.122A>G p.E41G Missense 3/7 - 1
11-67352019-GA-G c.122del p.E41Gfs*53 Frameshift 3/7 - 1
11-67352022-G-A c.125G>A p.G42D Missense 3/7 - 1
11-67352026-A-C c.129A>C p.S43= Synonymous 3/7 - 1
11-67352026-A-G c.129A>G p.S43= Synonymous 3/7 - 1
11-67352026-A-T c.129A>T p.S43= Synonymous 3/7 - 1
11-67352027-CTC-ATG c.130_132delinsATG p.L44M Missense 3/7 - 1
11-67352028-T-C c.131T>C p.L44P Missense 3/7 - 1
11-67352029-C-A c.132C>A p.L44= Synonymous 3/7 - 1
11-67352029-C-G c.132C>G p.L44= Synonymous 3/7 - 1
11-67352029-C-T c.132C>T p.L44= Synonymous 3/7 - 1
11-67352032-A-G c.135A>G p.K45= Synonymous 3/7 - 1
11-67352033-G-C c.136G>C p.A46P Missense 3/7 - 1
11-67352036-T-A c.139T>A p.S47T Missense 3/7 - 1
11-67352037-C-G c.140C>G p.S47C Missense 3/7 - 1
11-67352038-C-A c.141C>A p.S47= Synonymous 3/7 - 1
11-67352038-C-G c.141C>G p.S47= Synonymous 3/7 - 1
11-67352038-C-T c.141C>T p.S47= Synonymous 3/7 - 1
11-67352039-TG-AC c.142_143delinsAC p.C48T Missense 3/7 - 1
11-67352039-TG-CA c.142_143inv p.C48H Missense 3/7 - 1
11-67352040-G-T c.143G>T p.C48F Missense 3/7 - 1
11-67352041-C-T c.144C>T p.C48= Synonymous 3/7 - 2
11-67352042-G-GT c.144+2dup - IntronicInsertion - 3/6 1
11-67352045-A-G c.144+4A>G - IntronicSNV - 3/6 1
11-67352159-T-C c.148T>C p.Y50H Missense 4/7 - 2
11-67352161-C-G c.150C>G p.Y50* Nonsense 4/7 - 4
11-67352161-C-T c.150C>T p.Y50= Synonymous 4/7 - 5
11-67352162-G-A c.151G>A p.G51R Missense 4/7 - 1
11-67352162-G-C c.151G>C p.G51R Missense 4/7 - 1
11-67352162-GGG-AGC c.151_153delinsAGC p.G51S Missense 4/7 - 1
11-67352163-G-C c.152G>C p.G51A Missense 4/7 - 1
11-67352164-G-A c.153G>A p.G51= Synonymous 4/7 - 1
11-67352167-G-A c.156G>A p.Q52= Synonymous 4/7 - 2
11-67352167-G-GC c.157dup p.L53Pfs*43 Frameshift 4/7 - 1
11-67352169-TC-AA c.158_159delinsAA p.L53Q Missense 4/7 - 1
11-67352170-C-A c.159C>A p.L53= Synonymous 4/7 - 2
11-67352170-C-G c.159C>G p.L53= Synonymous 4/7 - 2
11-67352170-C-T c.159C>T p.L53= Synonymous 4/7 - 2
11-67352171-C-G c.160C>G p.P54A Missense 4/7 - 1
11-67352172-C-T c.161C>T p.P54L Missense 4/7 - 1
11-67352173-C-A c.162C>A p.P54= Synonymous 4/7 - 1
11-67352173-C-G c.162C>G p.P54= Synonymous 4/7 - 1
11-67352173-C-T c.162C>T p.P54= Synonymous 4/7 - 1
11-67352174-A-G c.163A>G p.K55E Missense 4/7 - 2
11-67352176-G-A c.165G>A p.K55= Synonymous 4/7 - 1
11-67352178-T-A c.167T>A p.F56Y Missense 4/7 - 1
11-67352180-C-A c.169C>A p.Q57K Missense 4/7 - 1
11-67352182-G-A c.171G>A p.Q57= Synonymous 4/7 - 1
11-67352183-G-A c.172G>A p.D58N Missense 4/7 - 4
11-67352185-C-T c.174C>T p.D58= Synonymous 4/7 - 2
11-67352186-G-A c.175G>A p.G59R Missense 4/7 - 2
11-67352186-G-C c.175G>C p.G59R Missense 4/7 - 1
11-67352186-GG-CT c.175_176delinsCT p.G59L Missense 4/7 - 1
11-67352189-G-T c.178G>T p.D60Y Missense 4/7 - 1
11-67352191-C-A c.180C>A p.D60E Missense 4/7 - 2
11-67352191-C-G c.180C>G p.D60E Missense 4/7 - 2
11-67352192-C-A c.181C>A p.L61I Missense 4/7 - 1
11-67352192-C-T c.181C>T p.L61F Missense 4/7 - 2
11-67352195-A-G c.184A>G p.T62A Missense 4/7 - 1
11-67352196-CC-TG c.185_186delinsTG p.T62M Missense 4/7 - 2
11-67352198-C-A c.187C>A p.L63M Missense 4/7 - 2
11-67352199-T-C c.188T>C p.L63P Missense 4/7 - 2
11-67352201-T-C c.190T>C p.Y64H Missense 4/7 - 2
11-67352201-T-G c.190T>G p.Y64D Missense 4/7 - 1
11-67352202-A-T c.191A>T p.Y64F Missense 4/7 - 1
11-67352206-G-A c.195G>A p.Q65= Synonymous 4/7 - 1
11-67352207-T-A c.196T>A p.S66T Missense 4/7 - 1
11-67352207-T-C c.196T>C p.S66P Missense 4/7 - 1
11-67352207-TC-AA c.196_197delinsAA p.S66N Missense 4/7 - 1
11-67352207-TC-CT c.196_197delinsCT p.S66L Missense 4/7 - 1
11-67352208-C-A c.197C>A p.S66Y Missense 4/7 - 2
11-67352208-C-T c.197C>T p.S66F Missense 4/7 - 2
11-67352210-A-G c.199A>G p.N67D Missense 4/7 - 1
11-67352211-A-C c.200A>C p.N67T Missense 4/7 - 2
11-67352211-A-T c.200A>T p.N67I Missense 4/7 - 1
11-67352212-T-C c.201T>C p.N67= Synonymous 4/7 - 1
11-67352213-A-T c.202A>T p.T68S Missense 4/7 - 4
11-67352214-C-G c.203C>G p.T68S Missense 4/7 - 7
11-67352216-A-G c.205A>G p.I69V Missense 4/7 - 1
11-67352219-C-A c.208C>A p.L70M Missense 4/7 - 1
11-67352220-T-C c.209T>C p.L70P Missense 4/7 - 1
11-67352222-C-G c.211C>G p.R71G Missense 4/7 - 1
11-67352222-C-T c.211C>T p.R71C Missense 4/7 - 1
11-67352223-G-A c.212G>A p.R71H Missense 4/7 - 2
11-67352225-C-T c.214C>T p.H72Y Missense 4/7 - 4
11-67352226-A-C c.215A>C p.H72P Missense 4/7 - 1
11-67352228-C-G c.217C>G p.L73V Missense 4/7 - 1
11-67352229-TG-T c.221del p.G74Afs*20 Frameshift 4/7 - 1
11-67352235-G-A c.224G>A p.R75H Missense 4/7 - 2
11-67352235-G-C c.224G>C p.R75P Missense 4/7 - 1
11-67352237-A-G c.226A>G p.T76A Missense 4/7 - 1
11-67352241-T-G c.230T>G p.L77R Missense 4/7 - 1
11-67352240-C-CT c.231dup p.G78Wfs*18 SpliceDonorInsertion 4/7 - 1
11-67352242-T-TA c.231_232insA p.G78Rfs*18 SpliceDonorInsertion 4/7 - 1
11-67352242-T-TC c.231_232insC p.G78Rfs*18 SpliceDonorInsertion 4/7 - 1
11-67352256-C-A c.232+13C>A - IntronicSNV - 4/6 28
11-67352256-C-T c.232+13C>T - IntronicSNV - 4/6 26
11-67352270-G-C c.232+27G>C - IntronicSNV - 4/6 1
11-67352381-G-A c.232+138G>A - IntronicSNV - 4/6 2
11-67352609-G-A c.233G>A p.G78E Missense 5/7 - 1
11-67352609-GG-AC c.233_234delinsAC p.G78D Missense 5/7 - 1
11-67352613-C-A c.237C>A p.L79= Synonymous 5/7 - 1
11-67352615-A-G c.239A>G p.Y80C Missense 5/7 - 2
11-67352622-G-T c.246G>T p.K82N Missense 5/7 - 1
11-67352623-G-A c.247G>A p.D83N Missense 5/7 - 1
11-67352623-GAC-AAG c.247_249delinsAAG p.D83K Missense 5/7 - 1
11-67352627-A-G c.251A>G p.Q84R Missense 5/7 - 1
11-67352628-G-A c.252G>A p.Q84= Synonymous 5/7 - 1
11-67352628-G-T c.252G>T p.Q84H Missense 5/7 - 1
11-67352631-G-A c.255G>A p.Q85= Synonymous 5/7 - 1
11-67352632-G-A c.256G>A p.E86K Missense 5/7 - 1
11-67352632-GA-AG c.256_257delinsAG p.E86R Missense 5/7 - 1
11-67352638-G-A c.262G>A p.A88T Missense 5/7 - 2
11-67352638-GCC-TGG c.262_264delinsTGG p.A88W Missense 5/7 - 1
11-67352638-GC-TA c.262_263delinsTA p.A88Y Missense 5/7 - 1
11-67352638-G-T c.262G>T p.A88S Missense 5/7 - 1
11-67352639-C-A c.263C>A p.A88D Missense 5/7 - 1
11-67352639-C-T c.263C>T p.A88V Missense 5/7 - 1
11-67352640-C-A c.264C>A p.A88= Synonymous 5/7 - 1
11-67352640-C-G c.264C>G p.A88= Synonymous 5/7 - 1
11-67352640-C-T c.264C>T p.A88= Synonymous 5/7 - 2
11-67352642-T-C c.266T>C p.L89P Missense 5/7 - 1
11-67352645-T-C c.269T>C p.V90A Missense 5/7 - 1
11-67352647-G-A c.271G>A p.D91N Missense 5/7 - 1
11-67352650-A-G c.274A>G p.M92V Missense 5/7 - 1
11-67352651-T-C c.275T>C p.M92T Missense 5/7 - 2
11-67352652-G-A c.276G>A p.M92I Missense 5/7 - 2
11-67352652-G-C c.276G>C p.M92I Missense 5/7 - 2
11-67352652-G-T c.276G>T p.M92I Missense 5/7 - 2
11-67352654-T-C c.278T>C p.V93A Missense 5/7 - 2
11-67352658-T-C c.282T>C p.N94= Synonymous 5/7 - 1
11-67352661-C-A c.285C>A p.D95E Missense 5/7 - 1
11-67352665-G-A c.289G>A p.V97M Missense 5/7 - 2
11-67352668-G-A c.292G>A p.E98K Missense 5/7 - 1
11-67352668-G-C c.292G>C p.E98Q Missense 5/7 - 1
11-67352670-AGGACCTCCGC-A c.294_303del p.E98Dfs*20 Frameshift 5/7 - 1
11-67352671-GAC-CAA c.295_297delinsCAA p.D99Q Missense 5/7 - 1
11-67352671-GA-CG c.295_296delinsCG p.D99R Missense 5/7 - 1
11-67352671-G-C c.295G>C p.D99H Missense 5/7 - 1
11-67352671-G-GAGAT c.296_297insGATA p.D99Efs*16 Frameshift 5/7 - 1
11-67352672-A-G c.296A>G p.D99G Missense 5/7 - 1
11-67352673-C-A c.297C>A p.D99E Missense 5/7 - 1
11-67352673-C-G c.297C>G p.D99E Missense 5/7 - 1
11-67352674-C-A c.298C>A p.L100I Missense 5/7 - 1
11-67352674-C-T c.298C>T p.L100F Missense 5/7 - 1
11-67352676-TCCGC-T c.300_303del p.R101Afs*19 Frameshift 5/7 - 1
11-67352678-G-A c.302G>A p.R101H Missense 5/7 - 3
11-67352680-T-G c.304T>G p.C102G Missense 5/7 - 1
11-67352682-C-T c.306C>T p.C102= Synonymous 5/7 - 1
11-67352685-A-C c.309A>C p.K103N Missense 5/7 - 1
11-67352685-A-G c.309A>G p.K103= Synonymous 5/7 - 1
11-67352685-A-T c.309A>T p.K103N Missense 5/7 - 1
11-67352689-A-C c.313A>C p.I105L Missense 5/7 - 1
11-67352689-A-G c.313A>G p.I105V Missense 5/7 - 947
11-67352689-AT-GC c.313_314delinsGC p.I105A Missense 5/7 - 2
11-67352691-C-A c.315C>A p.I105= Synonymous 5/7 - 19
11-67352691-C-T c.315C>T p.I105= Synonymous 5/7 - 20
11-67352693-C-T c.317C>T p.S106F Missense 5/7 - 1
11-67352692-TCC-T c.318_319del p.L107Hfs*6 Frameshift 5/7 - 1
11-67352694-C-A c.318C>A p.S106= Synonymous 5/7 - 1
11-67352694-C-G c.318C>G p.S106= Synonymous 5/7 - 1
11-67352694-C-T c.318C>T p.S106= Synonymous 5/7 - 2
11-67352695-C-A c.319C>A p.L107I Missense 5/7 - 1
11-67352695-C-G c.319C>G p.L107V Missense 5/7 - 1
11-67352697-C-A c.321C>A p.L107= Synonymous 5/7 - 1
11-67352697-C-G c.321C>G p.L107= Synonymous 5/7 - 1
11-67352697-C-T c.321C>T p.L107= Synonymous 5/7 - 1
11-67352698-A-G c.322A>G p.I108V Missense 5/7 - 2
11-67352698-A-T c.322A>T p.I108F Missense 5/7 - 2
11-67352704-A-T c.328A>T p.T110S Missense 5/7 - 2
11-67352705-C-G c.329C>G p.T110S Missense 5/7 - 5
11-67352706-C-A c.330C>A p.T110= Synonymous 5/7 - 1
11-67352706-C-CT c.330_331insT p.N111* Nonsense 5/7 - 1
11-67352710-T-G c.334T>G p.Y112D Missense 5/7 - 1
11-67352711-A-G c.335A>G p.Y112C Missense 5/7 - 4
11-67352712-T-C c.336T>C p.Y112= Synonymous 5/7 - 1
11-67352789-CCT-C c.336+79_336+80del - IntronicDeletion - 5/6 1
11-67352798-G-C c.336+86G>C - IntronicSNV - 5/6 1
11-67353033-G-A c.336+321G>A - IntronicSNV - 5/6 1
11-67353133-T-C c.336+421T>C - IntronicSNV - 5/6 1
11-67353150-A-G c.337-425A>G - IntronicSNV - 5/6 2
11-67353253-G-A c.337-322G>A - IntronicSNV - 5/6 23
11-67353353-A-G c.337-222A>G - IntronicSNV - 5/6 1
11-67353381-A-C c.337-194A>C - IntronicSNV - 5/6 1
11-67353381-A-T c.337-194A>T - IntronicSNV - 5/6 1
11-67353577-G-C c.339G>C p.E113D Missense 6/7 - 1
11-67353577-G-T c.339G>T p.E113D Missense 6/7 - 1
11-67353578-G-A c.340G>A p.A114T Missense 6/7 - 3
11-67353579-C-T c.341C>T p.A114V Missense 6/7 - 273
11-67353580-G-A c.342G>A p.A114= Synonymous 6/7 - 2
11-67353580-G-C c.342G>C p.A114= Synonymous 6/7 - 2
11-67353580-G-T c.342G>T p.A114= Synonymous 6/7 - 2
11-67353582-G-A c.344G>A p.G115D Missense 6/7 - 3
11-67353582-G-T c.344G>T p.G115V Missense 6/7 - 1
11-67353584-A-G c.346A>G p.K116E Missense 6/7 - 2
11-67353586-G-A c.348G>A p.K116= Synonymous 6/7 - 1
11-67353589-T-A c.351T>A p.D117E Missense 6/7 - 1
11-67353589-T-G c.351T>G p.D117E Missense 6/7 - 1
11-67353590-G-A c.352G>A p.D118N Missense 6/7 - 4
11-67353590-G-T c.352G>T p.D118Y Missense 6/7 - 5
11-67353594-A-G c.356A>G p.Y119C Missense 6/7 - 1
11-67353594-A-T c.356A>T p.Y119F Missense 6/7 - 1
11-67353596-GTG-ATC c.358_360delinsATC p.V120I Missense 6/7 - 1
11-67353598-G-C c.360G>C p.V120= Synonymous 6/7 - 1
11-67353599-A-C c.361A>C p.K121Q Missense 6/7 - 2
11-67353601-G-A c.363G>A p.K121= Synonymous 6/7 - 1
11-67353602-GCA-TGT c.364_366delinsTGT p.A122C Missense 6/7 - 1
11-67353602-G-T c.364G>T p.A122S Missense 6/7 - 1
11-67353603-C-G c.365C>G p.A122G Missense 6/7 - 1
11-67353605-C-T c.367C>T p.L123= Synonymous 6/7 - 1
11-67353607-G-A c.369G>A p.L123= Synonymous 6/7 - 1
11-67353607-G-C c.369G>C p.L123= Synonymous 6/7 - 1
11-67353607-G-T c.369G>T p.L123= Synonymous 6/7 - 1
11-67353608-C-A c.370C>A p.P124T Missense 6/7 - 1
11-67353608-C-G c.370C>G p.P124A Missense 6/7 - 2
11-67353608-C-T c.370C>T p.P124S Missense 6/7 - 1
11-67353610-C-A c.372C>A p.P124= Synonymous 6/7 - 1
11-67353610-C-G c.372C>G p.P124= Synonymous 6/7 - 1
11-67353610-C-T c.372C>T p.P124= Synonymous 6/7 - 2
11-67353611-GGG-TGT c.373_375delinsTGT p.G125C Missense 6/7 - 1
11-67353612-G-A c.374G>A p.G125E Missense 6/7 - 1
11-67353612-G-T c.374G>T p.G125V Missense 6/7 - 1
11-67353616-A-C c.378A>C p.Q126H Missense 6/7 - 1
11-67353616-A-T c.378A>T p.Q126H Missense 6/7 - 1
11-67353617-C-T c.379C>T p.L127= Synonymous 6/7 - 1
11-67353619-G-A c.381G>A p.L127= Synonymous 6/7 - 1
11-67353619-G-C c.381G>C p.L127= Synonymous 6/7 - 1
11-67353619-G-T c.381G>T p.L127= Synonymous 6/7 - 1
11-67353622-G-A c.384G>A p.K128= Synonymous 6/7 - 1
11-67353623-C-T c.385C>T p.P129S Missense 6/7 - 1
11-67353624-C-T c.386C>T p.P129L Missense 6/7 - 3
11-67353630-A-G c.392A>G p.E131G Missense 6/7 - 1
11-67353635-C-A c.397C>A p.L133M Missense 6/7 - 1
11-67353638-C-T c.400C>T p.L134= Synonymous 6/7 - 4
11-67353640-G-A c.402G>A p.L134= Synonymous 6/7 - 2
11-67353640-G-C c.402G>C p.L134= Synonymous 6/7 - 2
11-67353640-G-T c.402G>T p.L134= Synonymous 6/7 - 2
11-67353642-C-T c.404C>T p.S135F Missense 6/7 - 1
11-67353644-C-T c.406C>T p.Q136* Nonsense 6/7 - 1
11-67353646-G-A c.408G>A p.Q136= Synonymous 6/7 - 2
11-67353649-C-A c.411C>A p.N137K Missense 6/7 - 1
11-67353652-G-A c.414G>A p.Q138= Synonymous 6/7 - 1
11-67353652-G-C c.414G>C p.Q138H Missense 6/7 - 3
11-67353652-G-T c.414G>T p.Q138H Missense 6/7 - 2
11-67353653-G-A c.415G>A p.G139R Missense 6/7 - 2
11-67353653-G-C c.415G>C p.G139R Missense 6/7 - 1
11-67353654-G-T c.416G>T p.G139V Missense 6/7 - 1
11-67353657-G-A c.419G>A p.G140D Missense 6/7 - 1
11-67353658-C-A c.420C>A p.G140= Synonymous 6/7 - 3
11-67353658-C-CTG c.420_421insTG p.K141* Nonsense 6/7 - 1
11-67353658-C-G c.420C>G p.G140= Synonymous 6/7 - 4
11-67353658-C-T c.420C>T p.G140= Synonymous 6/7 - 3
11-67353659-A-AGGCAGG c.421_422insGGCAGG p.K141delinsRQE MultiAAMissense 6/7 - 1
11-67353662-AC-TG c.424_425delinsTG p.T142C Missense 6/7 - 1
11-67353663-C-T c.425C>T p.T142I Missense 6/7 - 1
11-67353668-A-T c.430A>T p.I144F Missense 6/7 - 1
11-67353669-T-C c.431T>C p.I144T Missense 6/7 - 1
11-67353671-GTG-ATC c.433_435delinsATC p.V145I Missense 6/7 - 1
11-67353673-G-A c.435G>A p.V145= Synonymous 6/7 - 2
11-67353673-G-C c.435G>C p.V145= Synonymous 6/7 - 1
11-67353673-G-T c.435G>T p.V145= Synonymous 6/7 - 1
11-67353675-G-C c.437G>C p.G146A Missense 6/7 - 1
11-67353675-G-T c.437G>T p.G146V Missense 6/7 - 2
11-67353677-G-T c.439G>T p.D147Y Missense 6/7 - 14
11-67353680-CCAG-C c.442_444del p.Q148del SpliceDonorDeletion 6/7 - 1
11-67353682-G-A c.444G>A p.Q148= Synonymous 6/7 - 1
11-67353715-G-A c.444+33G>A - IntronicSNV - 6/6 1
11-67353762-C-T c.444+80C>T - IntronicSNV - 6/6 1
11-67353842-G-A c.445-18G>A - IntronicSNV - 6/6 2
11-67353844-C-A c.445-16C>A - IntronicSNV - 6/6 24
11-67353844-C-T c.445-16C>T - IntronicSNV - 6/6 24
11-67353861-T-G c.446T>G p.I149S Missense 7/7 - 1
11-67353865-C-T c.450C>T p.S150= Synonymous 7/7 - 3
11-67353868-C-T c.453C>T p.F151= Synonymous 7/7 - 1
11-67353869-G-T c.454G>T p.A152S Missense 7/7 - 2
11-67353884-C-T c.469C>T p.L157= Synonymous 7/7 - 2
11-67353886-G-A c.471G>A p.L157= Synonymous 7/7 - 1
11-67353886-G-C c.471G>C p.L157= Synonymous 7/7 - 1
11-67353886-G-T c.471G>T p.L157= Synonymous 7/7 - 1
11-67353887-G-A c.472G>A p.D158N Missense 7/7 - 1
11-67353887-G-C c.472G>C p.D158H Missense 7/7 - 4
11-67353893-C-A c.478C>A p.L160M Missense 7/7 - 2
11-67353893-C-T c.478C>T p.L160= Synonymous 7/7 - 1
11-67353893-CTG-TTT c.478_480delinsTTT p.L160F Missense 7/7 - 1
11-67353894-TG-AT c.479_480delinsAT p.L160H Missense 7/7 - 1
11-67353896-C-T c.481C>T p.L161= Synonymous 7/7 - 1
11-67353898-G-T c.483G>T p.L161= Synonymous 7/7 - 2
11-67353901-C-G c.486C>G p.I162M Missense 7/7 - 1
11-67353901-C-T c.486C>T p.I162= Synonymous 7/7 - 1
11-67353902-C-T c.487C>T p.H163Y Missense 7/7 - 2
11-67353907-G-A c.492G>A p.E164= Synonymous 7/7 - 1
11-67353911-C-G c.496C>G p.L166V Missense 7/7 - 1
11-67353912-T-G c.497T>G p.L166R Missense 7/7 - 1
11-67353915-C-A c.500C>A p.A167D Missense 7/7 - 4
11-67353917-C-T c.502C>T p.P168S Missense 7/7 - 1
11-67353919-T-A c.504T>A p.P168= Synonymous 7/7 - 1
11-67353920-G-A c.505G>A p.G169S Missense 7/7 - 1
11-67353921-G-A c.506G>A p.G169D Missense 7/7 - 2
11-67353921-G-C c.506G>C p.G169A Missense 7/7 - 1
11-67353922-C-T c.507C>T p.G169= Synonymous 7/7 - 3
11-67353925-C-T c.510C>T p.C170= Synonymous 7/7 - 1
11-67353929-G-A c.514G>A p.D172N Missense 7/7 - 1
11-67353932-GC-TG c.517_518delinsTG p.A173W Missense 7/7 - 1
11-67353933-C-T c.518C>T p.A173V Missense 7/7 - 1
11-67353934-G-A c.519G>A p.A173= Synonymous 7/7 - 2
11-67353934-G-C c.519G>C p.A173= Synonymous 7/7 - 1
11-67353934-G-T c.519G>T p.A173= Synonymous 7/7 - 1
11-67353935-T-C c.520T>C p.F174L Missense 7/7 - 1
11-67353937-C-A c.522C>A p.F174L Missense 7/7 - 1
11-67353937-C-G c.522C>G p.F174L Missense 7/7 - 1
11-67353936-T-C c.521T>C p.F174S Missense 7/7 - 2
11-67353938-C-T c.523C>T p.P175S Missense 7/7 - 3
11-67353939-C-T c.524C>T p.P175L Missense 7/7 - 1
11-67353941-C-A c.526C>A p.L176M Missense 7/7 - 2
11-67353948-C-G c.533C>G p.S178* Nonsense 7/7 - 1
11-67353948-C-T c.533C>T p.S178L Missense 7/7 - 2
11-67353957-T-C c.542T>C p.V181A Missense 7/7 - 1
11-67353957-T-G c.542T>G p.V181G Missense 7/7 - 1
11-67353959-G-A c.544G>A p.G182R Missense 7/7 - 1
11-67353959-GG-AA c.544_545delinsAA p.G182K Missense 7/7 - 1
11-67353960-G-A c.545G>A p.G182E Missense 7/7 - 1
11-67353962-CGC-TGG c.547_549delinsTGG p.R183W Missense 7/7 - 1
11-67353963-G-A c.548G>A p.R183H Missense 7/7 - 7
11-67353963-G-C c.548G>C p.R183P Missense 7/7 - 2
11-67353964-C-A c.549C>A p.R183= Synonymous 7/7 - 3
11-67353964-C-G c.549C>G p.R183= Synonymous 7/7 - 2
11-67353964-C-T c.549C>T p.R183= Synonymous 7/7 - 2
11-67353967-C-T c.552C>T p.L184= Synonymous 7/7 - 1
11-67353968-A-C c.553A>C p.S185R Missense 7/7 - 1
11-67353970-T-A c.555T>A p.S185R Missense 7/7 - 1
11-67353970-T-C c.555T>C p.S185= Synonymous 7/7 - 46
11-67353970-T-G c.555T>G p.S185R Missense 7/7 - 1
11-67353971-G-A c.556G>A p.A186T Missense 7/7 - 3
11-67353972-C-T c.557C>T p.A186V Missense 7/7 - 2
11-67353974-C-A c.559C>A p.R187= Synonymous 7/7 - 1
11-67353974-C-G c.559C>G p.R187G Missense 7/7 - 2
11-67353974-CGG-AGC c.559_561delinsAGC p.R187S Missense 7/7 - 1
11-67353974-CG-GC c.559_560delinsGC p.R187A Missense 7/7 - 1
11-67353974-C-T c.559C>T p.R187W Missense 7/7 - 6
11-67353976-G-A c.561G>A p.R187= Synonymous 7/7 - 1
11-67353976-G-T c.561G>T p.R187= Synonymous 7/7 - 1
11-67353975-G-A c.560G>A p.R187Q Missense 7/7 - 1
11-67353976-G-C c.561G>C p.R187= Synonymous 7/7 - 2
11-67353977-C-A c.562C>A p.P188T Missense 7/7 - 1
11-67353979-C-CT c.564_565insT p.K189* Nonsense 7/7 - 1
11-67353980-A-AAC c.566_567insCA p.K189Nfs*13 Frameshift 7/7 - 1
11-67353983-C-A c.568C>A p.L190I Missense 7/7 - 1
11-67353983-C-T c.568C>T p.L190F Missense 7/7 - 1
11-67353985-C-A c.570C>A p.L190= Synonymous 7/7 - 1
11-67353985-C-G c.570C>G p.L190= Synonymous 7/7 - 2
11-67353985-C-T c.570C>T p.L190= Synonymous 7/7 - 1
11-67353988-G-A c.573G>A p.K191= Synonymous 7/7 - 1
11-67353989-G-A c.574G>A p.A192T Missense 7/7 - 1
11-67353990-C-T c.575C>T p.A192V Missense 7/7 - 1
11-67353993-T-C c.578T>C p.F193S Missense 7/7 - 5
11-67353994-C-T c.579C>T p.F193= Synonymous 7/7 - 1
11-67353995-C-T c.580C>T p.L194= Synonymous 7/7 - 1
11-67353998-G-T c.583G>T p.A195S Missense 7/7 - 1
11-67354000-C-T c.585C>T p.A195= Synonymous 7/7 - 1
11-67354004-C-G c.589C>G p.P197A Missense 7/7 - 4
11-67354004-C-T c.589C>T p.P197S Missense 7/7 - 1
11-67354005-C-T c.590C>T p.P197L Missense 7/7 - 5
11-67354006-T-A c.591T>A p.P197= Synonymous 7/7 - 1
11-67354006-T-C c.591T>C p.P197= Synonymous 7/7 - 1
11-67354006-T-G c.591T>G p.P197= Synonymous 7/7 - 1
11-67354012-C-T c.597C>T p.Y199= Synonymous 7/7 - 1
11-67354016-A-C c.601A>C p.N201H Missense 7/7 - 1
11-67354016-A-G c.601A>G p.N201D Missense 7/7 - 2
11-67354017-A-C c.602A>C p.N201T Missense 7/7 - 1
11-67354018-C-T c.603C>T p.N201= Synonymous 7/7 - 1
11-67354022-C-T c.607C>T p.P203S Missense 7/7 - 1
11-67354030-T-C c.615T>C p.N205= Synonymous 7/7 - 1
11-67354038-G-C c.623G>C p.G208A Missense 7/7 - 1
11-67354038-G-T c.623G>T p.G208V Missense 7/7 - 2
11-67354040-A-G c.625A>G p.K209E Missense 7/7 - 1
11-67354042-A-G c.627A>G p.K209= Synonymous 7/7 - 1
11-67354043-C-T c.628C>T p.Q210* Nonsense 7/7 - 1
11-67354046-T-C c.631T>C p.*211Rext*6 Missense 7/7 - 1
11-67354104-A-G c.*56A>G - 3-UTRSNV 7/7 - 2
11-67354109-A-C c.*61A>C - 3-UTRSNV 7/7 - 1
11-67354109-A-G c.*61A>G - 3-UTRSNV 7/7 - 1