AKR1B1

AKR1B1 aldo-keto reductase family 1 member B

Annotation transcript: NM_001628.4

500 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
7-134127402-A-C c.*78T>G - 3-UTRSNV 10/10 - 1
7-134127481-C-T c.950G>A p.*317= Synonymous 10/10 - 1
7-134127487-T-C c.944A>G p.E315G Missense 10/10 - 1
7-134127495-G-A c.936C>T p.F312= Synonymous 10/10 - 4
7-134127498-G-T c.933C>A p.P311= Synonymous 10/10 - 1
7-134127499-G-T c.932C>A p.P311H Missense 10/10 - 1
7-134127500-G-A c.931C>T p.P311S Missense 10/10 - 2
7-134127502-T-C c.929A>G p.Y310C Missense 10/10 - 2
7-134127504-A-C c.927T>G p.D309E Missense 10/10 - 1
7-134127515-A-G c.916T>C p.S306P Missense 10/10 - 1
7-134127515-GA-G c.916del p.S306Pfs*50 Frameshift 10/10 - 1
7-134127518-T-C c.913A>G p.T305A Missense 10/10 - 1
7-134127519-A-G c.912T>C p.C304= Synonymous 10/10 - 1
7-134127520-C-G c.911G>C p.C304S Missense 10/10 - 3
7-134127521-A-T c.910T>A p.C304S Missense 10/10 - 3
7-134129323-A-G c.908+667T>C - IntronicSNV - 9/9 1
7-134129996-A-T c.902T>A p.L301* Nonsense 9/10 - 1
7-134129997-A-C c.901T>G p.L301V Missense 9/10 - 3
7-134129998-G-A c.900C>T p.A300= Synonymous 9/10 - 1
7-134129999-G-A c.899C>T p.A300V Missense 9/10 - 3
7-134130003-A-C c.895T>G p.C299G Missense 9/10 - 1
7-134130004-G-T c.894C>A p.V298= Synonymous 9/10 - 1
7-134130007-C-A c.891G>T p.R297S Missense 9/10 - 1
7-134130009-T-C c.889A>G p.R297G Missense 9/10 - 2
7-134130022-G-A c.876C>T p.Y292= Synonymous 9/10 - 2
7-134130024-A-G c.874T>C p.Y292H Missense 9/10 - 2
7-134130025-G-C c.873C>G p.S291R Missense 9/10 - 2
7-134130025-G-T c.873C>A p.S291R Missense 9/10 - 2
7-134130026-C-A c.872G>T p.S291I Missense 9/10 - 1
7-134130027-T-G c.871A>C p.S291R Missense 9/10 - 3
7-134130035-G-A c.863C>T p.T288I Missense 9/10 - 4
7-134130038-G-A c.860C>T p.T287I Missense 9/10 - 2
7-134130040-C-A c.858G>T p.M286I Missense 9/10 - 1
7-134130040-C-G c.858G>C p.M286I Missense 9/10 - 1
7-134130040-C-T c.858G>A p.M286I Missense 9/10 - 1
7-134130041-A-G c.857T>C p.M286T Missense 9/10 - 1
7-134130046-C-A c.852G>T p.Q284H Missense 9/10 - 1
7-134130046-C-G c.852G>C p.Q284H Missense 9/10 - 1
7-134130051-T-A c.847A>T p.S283C Missense 9/10 - 1
7-134130062-A-G c.836T>C p.F279S Missense 9/10 - 1
7-134130064-G-A c.834C>T p.D278= Synonymous 9/10 - 1
7-134130070-G-A c.828C>T p.V276= Synonymous 9/10 - 1
7-134130070-G-C c.828C>G p.V276= Synonymous 9/10 - 1
7-134130070-G-T c.828C>A p.V276= Synonymous 9/10 - 2
7-134131955-T-A c.825+95A>T - IntronicSNV - 8/9 4
7-134131955-T-G c.825+95A>C - IntronicSNV - 8/9 5
7-134131998-C-T c.825+52G>A - IntronicSNV - 8/9 1
7-134132056-G-C c.819C>G p.N273K Missense 8/10 - 1
7-134132056-G-T c.819C>A p.N273K Missense 8/10 - 1
7-134132059-C-A c.816G>T p.E272D Missense 8/10 - 1
7-134132062-A-C c.813T>G p.A271= Synonymous 8/10 - 1
7-134132062-A-G c.813T>C p.A271= Synonymous 8/10 - 2
7-134132062-A-T c.813T>A p.A271= Synonymous 8/10 - 1
7-134132067-AT-A c.808del p.I270Lfs*12 Frameshift 8/10 - 1
7-134132069-C-T c.806G>A p.R269H Missense 8/10 - 5
7-134132070-G-C c.805C>G p.R269G Missense 8/10 - 1
7-134132070-G-T c.805C>A p.R269S Missense 8/10 - 3
7-134132076-G-C c.799C>G p.P267A Missense 8/10 - 1
7-134132080-C-A c.795G>T p.V265= Synonymous 8/10 - 1
7-134132080-C-G c.795G>C p.V265= Synonymous 8/10 - 1
7-134132080-C-T c.795G>A p.V265= Synonymous 8/10 - 1
7-134132082-C-T c.793G>A p.V265M Missense 8/10 - 2
7-134132084-G-A c.791C>T p.S264F Missense 8/10 - 2
7-134132084-G-T c.791C>A p.S264Y Missense 8/10 - 1
7-134132086-C-T c.789G>A p.K263= Synonymous 8/10 - 1
7-134132090-G-T c.785C>A p.P262H Missense 8/10 - 2
7-134132091-G-A c.784C>T p.P262S Missense 8/10 - 2
7-134132094-T-A c.781A>T p.I261F Missense 8/10 - 2
7-134132097-C-A c.778G>T p.V260L Missense 8/10 - 1
7-134132097-C-G c.778G>C p.V260L Missense 8/10 - 1
7-134132101-C-T c.774G>A p.L258= Synonymous 8/10 - 1
7-134132106-T-C c.769A>G p.N257D Missense 8/10 - 4
7-134132110-C-A c.765G>T p.Q255H Missense 8/10 - 2
7-134132110-C-G c.765G>C p.Q255H Missense 8/10 - 2
7-134132111-T-G c.764A>C p.Q255P Missense 8/10 - 2
7-134132118-G-A c.757C>T p.P253S Missense 8/10 - 5
7-134132119-G-T c.756C>A p.F252L Missense 8/10 - 4
7-134132119-G-C c.756C>G p.F252L Missense 8/10 - 3
7-134132121-A-G c.754T>C p.F252L Missense 8/10 - 3
7-134132123-C-A c.752G>T p.R251L Missense 8/10 - 2
7-134132123-C-T c.752G>A p.R251Q Missense 8/10 - 3
7-134132125-G-A c.750C>T p.I250= Synonymous 8/10 - 2
7-134132125-G-T c.750C>A p.I250= Synonymous 8/10 - 1
7-134132133-C-T c.742G>A p.V248I Missense 8/10 - 2
7-134132225-G-A c.742-92C>T - IntronicSNV - 7/9 1
7-134132225-G-T c.742-92C>A - IntronicSNV - 7/9 1
7-134132443-C-A c.741+289G>T - IntronicSNV - 7/9 1
7-134132443-C-T c.741+289G>A - IntronicSNV - 7/9 1
7-134132452-G-C c.741+280C>G - IntronicSNV - 7/9 2
7-134132475-G-C c.741+257C>G - IntronicSNV - 7/9 5
7-134132581-G-A c.741+151C>T - IntronicSNV - 7/9 1
7-134132581-G-C c.741+151C>G - IntronicSNV - 7/9 1
7-134132732-C-T c.741G>A p.Q247= Synonymous 7/10 - 1
7-134132735-G-A c.738C>T p.A246= Synonymous 7/10 - 2
7-134132738-T-A c.735A>T p.T245= Synonymous 7/10 - 2
7-134132738-T-C c.735A>G p.T245= Synonymous 7/10 - 2
7-134132738-T-G c.735A>C p.T245= Synonymous 7/10 - 2
7-134132740-T-C c.733A>G p.T245A Missense 7/10 - 2
7-134132741-A-C c.732T>G p.T244= Synonymous 7/10 - 1
7-134132741-A-G c.732T>C p.T244= Synonymous 7/10 - 1
7-134132741-A-T c.732T>A p.T244= Synonymous 7/10 - 1
7-134132743-T-C c.730A>G p.T244A Missense 7/10 - 1
7-134132744-T-A c.729A>T p.K243N Missense 7/10 - 1
7-134132742-G-GT c.730dup p.T244Nfs*29 Frameshift 7/10 - 1
7-134132746-T-TA c.726dup p.K243* Nonsense 7/10 - 1
7-134132750-G-C c.723C>G p.H241Q Missense 7/10 - 1
7-134132750-G-T c.723C>A p.H241Q Missense 7/10 - 1
7-134132752-G-T c.721C>A p.H241N Missense 7/10 - 2
7-134132753-C-T c.720G>A p.K240= Synonymous 7/10 - 3
7-134132757-G-T c.716C>A p.A239D Missense 7/10 - 3
7-134132760-G-A c.713C>T p.A238V Missense 7/10 - 1
7-134132761-C-T c.712G>A p.A238T Missense 7/10 - 7
7-134132764-T-C c.709A>G p.I237V Missense 7/10 - 1
7-134132765-C-A c.708G>T p.A236= Synonymous 7/10 - 1
7-134132765-C-G c.708G>C p.A236= Synonymous 7/10 - 1
7-134132765-C-T c.708G>A p.A236= Synonymous 7/10 - 1
7-134132766-G-A c.707C>T p.A236V Missense 7/10 - 1
7-134132767-C-T c.706G>A p.A236T Missense 7/10 - 2
7-134132771-G-C c.702C>G p.I234M Missense 7/10 - 1
7-134132772-A-G c.701T>C p.I234T Missense 7/10 - 2
7-134132773-T-G c.700A>C p.I234L Missense 7/10 - 4
7-134132774-CCT-ATG c.697_699delinsCAT p.R233H Missense 7/10 - 1
7-134132775-C-T c.698G>A p.R233K Missense 7/10 - 1
7-134132778-G-C c.695C>G p.P232R Missense 7/10 - 1
7-134132782-C-T c.691G>A p.D231N Missense 7/10 - 2
7-134132789-G-A c.684C>T p.L228= Synonymous 7/10 - 3
7-134132789-G-C c.684C>G p.L228= Synonymous 7/10 - 1
7-134132789-G-T c.684C>A p.L228= Synonymous 7/10 - 1
7-134132790-A-G c.683T>C p.L228P Missense 7/10 - 1
7-134132791-G-A c.682C>T p.L228F Missense 7/10 - 3
7-134132791-G-T c.682C>A p.L228I Missense 7/10 - 1
7-134132793-G-A c.680C>T p.S227F Missense 7/10 - 6
7-134132795-A-C c.678T>G p.P226= Synonymous 7/10 - 1
7-134132795-A-G c.678T>C p.P226= Synonymous 7/10 - 1
7-134132795-A-T c.678T>A p.P226= Synonymous 7/10 - 1
7-134132796-G-A c.677C>T p.P226L Missense 7/10 - 2
7-134132797-G-A c.676C>T p.P226S Missense 7/10 - 5
7-134132798-G-A c.675C>T p.D225= Synonymous 7/10 - 3
7-134132800-C-T c.673G>A p.D225N Missense 7/10 - 1
7-134132805-G-A c.668C>T p.P223L Missense 7/10 - 6
7-134132811-G-A c.662C>T p.A221V Missense 7/10 - 1
7-134133141-G-A c.657C>T p.P219= Synonymous 6/10 - 1
7-134133141-G-C c.657C>G p.P219= Synonymous 6/10 - 1
7-134133141-G-T c.657C>A p.P219= Synonymous 6/10 - 1
7-134133142-G-A c.656C>T p.P219L Missense 6/10 - 2
7-134133144-C-A c.654G>T p.R218S Missense 6/10 - 1
7-134133145-C-A c.653G>T p.R218M Missense 6/10 - 1
7-134133149-C-T c.649G>A p.D217N Missense 6/10 - 2
7-134133153-A-C c.645T>G p.S215= Synonymous 6/10 - 1
7-134133157-C-A c.641G>T p.G214V Missense 6/10 - 1
7-134133165-G-A c.633C>T p.S211= Synonymous 6/10 - 1
7-134133169-T-C c.629A>G p.Y210C Missense 6/10 - 2
7-134133173-C-A c.625G>T p.A209S Missense 6/10 - 1
7-134133173-C-T c.625G>A p.A209T Missense 6/10 - 1
7-134133174-G-A c.624C>T p.T208= Synonymous 6/10 - 3
7-134133174-G-C c.624C>G p.T208= Synonymous 6/10 - 2
7-134133174-G-T c.624C>A p.T208= Synonymous 6/10 - 2
7-134133175-G-A c.623C>T p.T208I Missense 6/10 - 1
7-134133179-C-A c.619G>T p.V207L Missense 6/10 - 2
7-134133179-C-G c.619G>C p.V207L Missense 6/10 - 1
7-134133179-C-T c.619G>A p.V207M Missense 6/10 - 1
7-134133182-C-T c.616G>A p.V206M Missense 6/10 - 3
7-134133183-G-A c.615C>T p.I205= Synonymous 6/10 - 10
7-134133183-G-T c.615C>A p.I205= Synonymous 6/10 - 4
7-134133186-G-A c.612C>T p.G204= Synonymous 6/10 - 1
7-134133186-G-C c.612C>G p.G204= Synonymous 6/10 - 1
7-134133186-G-T c.612C>A p.G204= Synonymous 6/10 - 1
7-134133187-C-G c.611G>C p.G204A Missense 6/10 - 2
7-134133188-C-T c.610G>A p.G204S Missense 6/10 - 4
7-134133193-G-A c.605C>T p.S202F Missense 6/10 - 3
7-134133198-G-A c.600C>T p.C200= Synonymous 6/10 - 2
7-134133198-G-C c.600C>G p.C200W Missense 6/10 - 1
7-134133204-C-T c.594G>A p.Q198= Synonymous 6/10 - 1
7-134133207-G-A c.591C>T p.I197= Synonymous 6/10 - 2
7-134133207-G-T c.591C>A p.I197= Synonymous 6/10 - 2
7-134133211-AA-CT c.586_587delinsAG p.L196R Missense 6/10 - 1
7-134133216-C-A c.582G>T p.E194D Missense 6/10 - 2
7-134133216-C-G c.582G>C p.E194D Missense 6/10 - 2
7-134133221-G-C c.577C>G p.Q193E Missense 6/10 - 2
7-134133222-A-C c.576T>G p.T192= Synonymous 6/10 - 4
7-134133222-A-G c.576T>C p.T192= Synonymous 6/10 - 4
7-134133222-A-T c.576T>A p.T192= Synonymous 6/10 - 4
7-134133226-A-G c.572T>C p.L191P Missense 6/10 - 1
7-134133227-G-T c.571C>A p.L191I Missense 6/10 - 1
7-134133231-T-A c.567A>T p.P189= Synonymous 6/10 - 1
7-134133231-T-C c.567A>G p.P189= Synonymous 6/10 - 2
7-134133231-T-G c.567A>C p.P189= Synonymous 6/10 - 1
7-134133232-GGGT-G c.563_565del p.H188del InFrameDeletion 6/10 - 1
7-134133242-C-A c.556G>T p.E186* Nonsense 6/10 - 1
7-134133242-C-G c.556G>C p.E186Q Missense 6/10 - 1
7-134133245-T-G c.553A>C p.I185L Missense 6/10 - 1
7-134133291-G-A c.553-46C>T - IntronicSNV - 5/9 8
7-134133620-T-G c.552+129A>C - IntronicSNV - 5/9 2
7-134133728-G-A c.552+21C>T - IntronicSNV - 5/9 1
7-134133728-G-C c.552+21C>G - IntronicSNV - 5/9 1
7-134133744-T-C c.552+5A>G - IntronicSNV - 5/9 1
7-134133745-T-C c.552+4A>G - IntronicSNV - 5/9 1
7-134133750-T-A c.551A>T p.Q184L Missense 5/10 - 4
7-134133756-A-C c.545T>G p.V182G Missense 5/10 - 2
7-134133759-G-A c.542C>T p.A181V Missense 5/10 - 2
7-134133762-G-A c.539C>T p.P180L Missense 5/10 - 1
7-134133764-C-T c.537G>A p.K179= Synonymous 5/10 - 1
7-134133767-A-G c.534T>C p.Y178= Synonymous 5/10 - 1
7-134133770-C-T c.531G>A p.K177= Synonymous 5/10 - 2
7-134133776-GCC-CCA c.523_525delinsTGG p.G175W Missense 5/10 - 1
7-134133778-C-G c.523G>C p.G175R Missense 5/10 - 3
7-134133780-G-A c.521C>T p.P174L Missense 5/10 - 1
7-134133781-G-A c.520C>T p.P174S Missense 5/10 - 1
7-134133785-G-T c.516C>A p.N172K Missense 5/10 - 1
7-134133791-G-A c.510C>T p.I170= Synonymous 5/10 - 2
7-134133797-C-T c.504G>A p.E168= Synonymous 5/10 - 1
7-134133799-C-T c.502G>A p.E168K Missense 5/10 - 1
7-134133801-A-C c.500T>G p.V167G Missense 5/10 - 1
7-134133802-C-A c.499G>T p.V167L Missense 5/10 - 1
7-134133802-C-G c.499G>C p.V167L Missense 5/10 - 1
7-134133802-C-T c.499G>A p.V167M Missense 5/10 - 1
7-134133805-G-A c.496C>T p.Q166* Nonsense 5/10 - 1
7-134133811-G-A c.490C>T p.H164Y Missense 5/10 - 2
7-134133813-T-C c.488A>G p.N163S Missense 5/10 - 2
7-134133814-T-A c.487A>T p.N163Y Missense 5/10 - 1
7-134133816-A-G c.485T>C p.F162S Missense 5/10 - 1
7-134133818-G-A c.483C>T p.N161= Synonymous 5/10 - 1
7-134133822-G-C c.479C>G p.S160C Missense 5/10 - 1
7-134133825-A-T c.476T>A p.I159N Missense 5/10 - 1
7-134133826-T-C c.475A>G p.I159V Missense 5/10 - 1
7-134133829-C-T c.472G>A p.G158S Missense 5/10 - 4
7-134133833-A-C c.468T>G p.A156= Synonymous 5/10 - 2
7-134133833-A-G c.468T>C p.A156= Synonymous 5/10 - 2
7-134133833-A-T c.468T>A p.A156= Synonymous 5/10 - 2
7-134133840-A-C c.461T>G p.V154G Missense 5/10 - 2
7-134133841-C-G c.460G>C p.V154L Missense 5/10 - 1
7-134133841-C-T c.460G>A p.V154M Missense 5/10 - 1
7-134133842-C-A c.459G>T p.L153= Synonymous 5/10 - 1
7-134133848-T-C c.453A>G p.E151= Synonymous 5/10 - 1
7-134133850-C-T c.451G>A p.E151K Missense 5/10 - 3
7-134133854-C-T c.447G>A p.V149= Synonymous 5/10 - 1
7-134133856-C-A c.445G>T p.V149L Missense 5/10 - 1
7-134133856-C-G c.445G>C p.V149L Missense 5/10 - 1
7-134133857-C-A c.444G>T p.L148= Synonymous 5/10 - 1
7-134133857-C-G c.444G>C p.L148= Synonymous 5/10 - 1
7-134133857-C-T c.444G>A p.L148= Synonymous 5/10 - 1
7-134133859-G-A c.442C>T p.L148= Synonymous 5/10 - 2
7-134133858-A-C c.443T>G p.L148R Missense 5/10 - 1
7-134133859-G-C c.442C>G p.L148V Missense 5/10 - 1
7-134133862-C-A c.439G>T p.E147* Nonsense 5/10 - 3
7-134133865-C-T c.436G>A p.E146K Missense 5/10 - 4
7-134133866-C-A c.435G>T p.M145I Missense 5/10 - 2
7-134133866-C-G c.435G>C p.M145I Missense 5/10 - 2
7-134133866-C-T c.435G>A p.M145I Missense 5/10 - 3
7-134133867-A-G c.434T>C p.M145T Missense 5/10 - 1
7-134133870-G-A c.431C>T p.A144V Missense 5/10 - 1
7-134133871-C-T c.430G>A p.A144T Missense 5/10 - 1
7-134134115-G-A c.430-244C>T - IntronicSNV - 4/9 1
7-134134115-G-T c.430-244C>A - IntronicSNV - 4/9 1
7-134134135-A-C c.430-264T>G - IntronicSNV - 4/9 1
7-134134135-A-G c.430-264T>C - IntronicSNV - 4/9 1
7-134134135-A-T c.430-264T>A - IntronicSNV - 4/9 1
7-134134154-C-A c.430-283G>T - IntronicSNV - 4/9 1
7-134134154-C-G c.430-283G>C - IntronicSNV - 4/9 1
7-134134154-C-T c.430-283G>A - IntronicSNV - 4/9 1
7-134134338-CAA-C c.429+132_429+133del - IntronicDeletion - 4/9 2
7-134134338-CA-C c.429+133del - IntronicDeletion - 4/9 2
7-134134338-C-CA c.429+133dup - IntronicInsertion - 4/9 1
7-134134410-T-C c.429+62A>G - IntronicSNV - 4/9 1
7-134134466-T-C c.429+6A>G - IntronicSNV - 4/9 1
7-134134473-G-A c.428C>T p.A143V Missense 4/10 - 3
7-134134473-G-T c.428C>A p.A143E Missense 4/10 - 2
7-134134478-C-T c.423G>A p.T141= Synonymous 4/10 - 1
7-134134479-G-A c.422C>T p.T141M Missense 4/10 - 1
7-134134479-G-T c.422C>A p.T141K Missense 4/10 - 1
7-134134483-C-T c.418G>A p.D140N Missense 4/10 - 2
7-134134486-AG-A c.415del p.L139Wfs*16 Frameshift 4/10 - 1
7-134134486-GA-G c.414del p.L139Wfs*16 Frameshift 4/10 - 1
7-134134488-A-G c.413T>C p.I138T Missense 4/10 - 2
7-134134491-T-C c.410A>G p.N137S Missense 4/10 - 1
7-134134495-T-A c.406A>T p.T136S Missense 4/10 - 1
7-134134498-C-G c.403G>C p.D135H Missense 4/10 - 1
7-134134503-G-A c.398C>T p.P133L Missense 4/10 - 1
7-134134504-G-A c.397C>T p.P133S Missense 4/10 - 1
7-134134509-A-G c.392T>C p.V131A Missense 4/10 - 3
7-134134510-C-A c.391G>T p.V131L Missense 4/10 - 1
7-134134510-C-G c.391G>C p.V131L Missense 4/10 - 1
7-134134512-T-C c.389A>G p.N130S Missense 4/10 - 2
7-134134514-G-A c.387C>T p.G129= Synonymous 4/10 - 1
7-134134514-G-C c.387C>G p.G129= Synonymous 4/10 - 1
7-134134514-G-T c.387C>A p.G129= Synonymous 4/10 - 1
7-134134515-C-G c.386G>C p.G129A Missense 4/10 - 1
7-134134515-C-T c.386G>A p.G129D Missense 4/10 - 2
7-134134517-C-A c.384G>T p.S128= Synonymous 4/10 - 1
7-134134517-CG-AC c.383_384delinsGT p.S128C Missense 4/10 - 1
7-134134518-G-A c.383C>T p.S128L Missense 4/10 - 1
7-134134520-C-T c.381G>A p.E127= Synonymous 4/10 - 2
7-134134521-T-A c.380A>T p.E127V Missense 4/10 - 1
7-134134522-C-A c.379G>T p.E127* Nonsense 4/10 - 1
7-134134525-C-T c.376G>A p.D126N Missense 4/10 - 2
7-134134527-AA-TT c.373_374inv p.L125K Missense 4/10 - 3
7-134134527-A-G c.374T>C p.L125S Missense 4/10 - 1
7-134134530-G-A c.371C>T p.P124L Missense 4/10 - 4
7-134134531-G-A c.370C>T p.P124S Missense 4/10 - 2
7-134134531-G-C c.370C>G p.P124A Missense 4/10 - 1
7-134134532-G-A c.369C>T p.F123= Synonymous 4/10 - 12
7-134134534-A-T c.367T>A p.F123I Missense 4/10 - 1
7-134134538-T-A c.363A>T p.E121D Missense 4/10 - 1
7-134134538-T-G c.363A>C p.E121D Missense 4/10 - 1
7-134134544-C-T c.357G>A p.G119= Synonymous 4/10 - 3
7-134134543-TCC-T c.356_357del p.G119Efs*8 Frameshift 4/10 - 1
7-134134546-C-A c.355G>T p.G119W Missense 4/10 - 3
7-134134548-G-T c.353C>A p.P118H Missense 4/10 - 1
7-134134549-G-A c.352C>T p.P118S Missense 4/10 - 2
7-134134745-C-T c.352-196G>A - IntronicSNV - 3/9 3
7-134135077-C-A c.351+461G>T - IntronicSNV - 3/9 1
7-134135536-A-G c.351+2T>C - IntronicSNV - 3/9 1
7-134135538-C-A c.351G>T p.K117N Missense 3/10 - 1
7-134135538-C-G c.351G>C p.K117N Missense 3/10 - 1
7-134135540-T-C c.349A>G p.K117E Missense 3/10 - 2
7-134135542-A-G c.347T>C p.F116S Missense 3/10 - 1
7-134135542-A-T c.347T>A p.F116Y Missense 3/10 - 1
7-134135544-GC-CT c.344_345delinsAG p.G115E Missense 3/10 - 1
7-134135545-C-A c.344G>T p.G115V Missense 3/10 - 1
7-134135545-C-T c.344G>A p.G115D Missense 3/10 - 3
7-134135546-C-G c.343G>C p.G115R Missense 3/10 - 1
7-134135546-C-T c.343G>A p.G115S Missense 3/10 - 2
7-134135549-T-C c.340A>G p.T114A Missense 3/10 - 1
7-134135550-C-A c.339G>T p.P113= Synonymous 3/10 - 2
7-134135550-C-G c.339G>C p.P113= Synonymous 3/10 - 2
7-134135550-C-T c.339G>A p.P113= Synonymous 3/10 - 4
7-134135551-G-A c.338C>T p.P113L Missense 3/10 - 7
7-134135558-G-C c.331C>G p.H111D Missense 3/10 - 2
7-134135558-G-T c.331C>A p.H111N Missense 3/10 - 1
7-134135566-T-C c.323A>G p.Y108C Missense 3/10 - 1
7-134135570-G-A c.319C>T p.L107F Missense 3/10 - 3
7-134135571-G-A c.318C>T p.D106= Synonymous 3/10 - 1
7-134135573-CC-TA c.315_316delinsTA p.D106N Missense 3/10 - 1
7-134135573-C-T c.316G>A p.D106N Missense 3/10 - 2
7-134135578-T-C c.311A>G p.Y104C Missense 3/10 - 3
7-134135581-T-A c.308A>T p.D103V Missense 3/10 - 1
7-134135589-C-A c.300G>T p.L100= Synonymous 3/10 - 1
7-134135589-C-G c.300G>C p.L100= Synonymous 3/10 - 1
7-134135589-C-T c.300G>A p.L100= Synonymous 3/10 - 1
7-134135591-G-A c.298C>T p.L100= Synonymous 3/10 - 1
7-134135591-G-T c.298C>A p.L100M Missense 3/10 - 1
7-134135593-T-A c.296A>T p.D99V Missense 3/10 - 1
7-134135594-C-T c.295G>A p.D99N Missense 3/10 - 1
7-134135595-G-A c.294C>T p.S98= Synonymous 3/10 - 1
7-134135598-G-A c.291C>T p.L97= Synonymous 3/10 - 1
7-134135598-G-C c.291C>G p.L97= Synonymous 3/10 - 1
7-134135598-G-T c.291C>A p.L97= Synonymous 3/10 - 1
7-134135599-A-T c.290T>A p.L97H Missense 3/10 - 1
7-134135600-G-A c.289C>T p.L97F Missense 3/10 - 1
7-134135600-G-C c.289C>G p.L97V Missense 3/10 - 1
7-134135604-C-T c.285G>A p.K95= Synonymous 3/10 - 1
7-134135609-G-A c.280C>T p.Q94* Nonsense 3/10 - 1
7-134135614-G-A c.275C>T p.A92V Missense 3/10 - 1
7-134135621-T-C c.268A>G p.K90E Missense 3/10 - 15
7-134135624-C-A c.265G>T p.V89L Missense 3/10 - 1
7-134135627-G-A c.262C>T p.L88= Synonymous 3/10 - 3
7-134135631-C-T c.258G>A p.K86= Synonymous 3/10 - 1
7-134135632-T-C c.257A>G p.K86R Missense 3/10 - 3
7-134135634-C-A c.255G>T p.E85D Missense 3/10 - 1
7-134135634-C-G c.255G>C p.E85D Missense 3/10 - 1
7-134135634-C-T c.255G>A p.E85= Synonymous 3/10 - 2
7-134135636-C-T c.253G>A p.E85K Missense 3/10 - 1
7-134135638-T-C c.251A>G p.H84R Missense 3/10 - 1
7-134135639-G-A c.250C>T p.H84Y Missense 3/10 - 1
7-134135640-G-A c.249C>T p.Y83= Synonymous 3/10 - 1
7-134135642-A-T c.247T>A p.Y83N Missense 3/10 - 1
7-134135643-C-A c.246G>T p.T82= Synonymous 3/10 - 1
7-134135643-C-G c.246G>C p.T82= Synonymous 3/10 - 1
7-134135643-C-T c.246G>A p.T82= Synonymous 3/10 - 1
7-134135647-C-G c.242G>C p.C81S Missense 3/10 - 1
7-134135649-C-T c.240G>A p.W80* Nonsense 3/10 - 1
7-134135650-C-T c.239G>A p.W80* Nonsense 3/10 - 1
7-134135654-G-C c.235C>G p.L79V Missense 3/10 - 1
7-134135751-C-T c.235-97G>A - IntronicSNV - 2/9 4
7-134136219-G-T c.234+119C>A - IntronicSNV - 2/9 1
7-134136331-A-C c.234+7T>G - IntronicSNV - 2/9 1
7-134136335-T-C c.234+3A>G - IntronicSNV - 2/9 1
7-134136338-C-A c.234G>T p.K78N Missense 2/10 - 1
7-134136338-C-T c.234G>A p.K78= Synonymous 2/10 - 3
7-134136342-C-T c.230G>A p.S77N Missense 2/10 - 1
7-134136344-G-A c.228C>T p.V76= Synonymous 2/10 - 1
7-134136344-G-C c.228C>G p.V76= Synonymous 2/10 - 1
7-134136344-G-T c.228C>A p.V76= Synonymous 2/10 - 1
7-134136346-C-T c.226G>A p.V76I Missense 2/10 - 3
7-134136347-G-A c.225C>T p.I75= Synonymous 2/10 - 7
7-134136347-G-T c.225C>A p.I75= Synonymous 2/10 - 2
7-134136351-AA-TC c.220_221delinsGA p.F74D Missense 2/10 - 1
7-134136355-G-C c.217C>G p.L73V Missense 2/10 - 3
7-134136356-C-A c.216G>T p.E72D Missense 2/10 - 2
7-134136356-C-G c.216G>C p.E72D Missense 2/10 - 2
7-134136358-C-A c.214G>T p.E72* Nonsense 2/10 - 6
7-134136358-C-T c.214G>A p.E72K Missense 2/10 - 4
7-134136359-C-T c.213G>A p.E71= Synonymous 2/10 - 1
7-134136361-C-T c.211G>A p.E71K Missense 2/10 - 1
7-134136363-C-A c.209G>T p.R70L Missense 2/10 - 1
7-134136363-C-T c.209G>A p.R70H Missense 2/10 - 1
7-134136364-G-A c.208C>T p.R70C Missense 2/10 - 3
7-134136364-G-C c.208C>G p.R70G Missense 2/10 - 1
7-134136365-C-A c.207G>T p.K69N Missense 2/10 - 1
7-134136365-C-G c.207G>C p.K69N Missense 2/10 - 1
7-134136367-T-C c.205A>G p.K69E Missense 2/10 - 1
7-134136372-A-G c.200T>C p.V67A Missense 2/10 - 1
7-134136374-C-A c.198G>T p.Q66H Missense 2/10 - 1
7-134136374-C-G c.198G>C p.Q66H Missense 2/10 - 1
7-134136380-C-T c.192G>A p.R64= Synonymous 2/10 - 1
7-134136382-T-G c.190A>C p.R64= Synonymous 2/10 - 1
7-134136383-G-A c.189C>T p.L63= Synonymous 2/10 - 3
7-134136385-G-A c.187C>T p.L63F Missense 2/10 - 1
7-134136386-C-G c.186G>C p.K62N Missense 2/10 - 1
7-134136389-C-A c.183G>T p.E61D Missense 2/10 - 1
7-134136389-C-G c.183G>C p.E61D Missense 2/10 - 1
7-134136389-C-T c.183G>A p.E61= Synonymous 2/10 - 1
7-134136391-C-A c.181G>T p.E61* Nonsense 2/10 - 1
7-134136393-T-C c.179A>G p.Q60R Missense 2/10 - 1
7-134136394-G-A c.178C>T p.Q60* Nonsense 2/10 - 1
7-134136399-G-A c.173C>T p.A58V Missense 2/10 - 2
7-134136403-C-T c.169G>A p.V57M Missense 2/10 - 1
7-134136405-C-G c.167G>C p.G56A Missense 2/10 - 1
7-134136405-C-T c.167G>A p.G56E Missense 2/10 - 2
7-134136406-C-G c.166G>C p.G56R Missense 2/10 - 1
7-134136406-C-T c.166G>A p.G56R Missense 2/10 - 1
7-134136412-C-G c.160G>C p.E54Q Missense 2/10 - 1
7-134136414-T-C c.158A>G p.N53S Missense 2/10 - 1
7-134136418-C-A c.154G>T p.E52* Nonsense 2/10 - 1
7-134136422-C-A c.150G>T p.Q50H Missense 2/10 - 2
7-134136422-C-G c.150G>C p.Q50H Missense 2/10 - 6
7-134136424-G-A c.148C>T p.Q50* Nonsense 2/10 - 1
7-134136430-C-T c.142G>A p.V48M Missense 2/10 - 3
7-134136431-A-C c.141T>G p.H47Q Missense 2/10 - 2
7-134136435-G-A c.137C>T p.A46V Missense 2/10 - 1
7-134136437-A-G c.135T>C p.C45= Synonymous 2/10 - 1
7-134136438-C-G c.134G>C p.C45S Missense 2/10 - 1
7-134136439-A-T c.133T>A p.C45S Missense 2/10 - 1
7-134136440-G-A c.132C>T p.D44= Synonymous 2/10 - 2
7-134136444-A-G c.128T>C p.I43T Missense 2/10 - 1
7-134136445-T-C c.127A>G p.I43V Missense 2/10 - 2
7-134136445-T-G c.127A>C p.I43L Missense 2/10 - 1
7-134136447-T-A c.125A>T p.H42L Missense 2/10 - 3
7-134136448-G-A c.124C>T p.H42Y Missense 2/10 - 1
7-134136450-C-T c.122G>A p.R41H Missense 2/10 - 3
7-134136451-G-A c.121C>T p.R41C Missense 2/10 - 3
7-134136454-A-G c.118T>C p.Y40H Missense 2/10 - 1
7-134136456-C-T c.116G>A p.G39E Missense 2/10 - 1
7-134136457-C-G c.115G>C p.G39R Missense 2/10 - 1
7-134136457-C-T c.115G>A p.G39R Missense 2/10 - 2
7-134136460-C-T c.112G>A p.V38I Missense 2/10 - 2
7-134136461-G-A c.111C>T p.D37= Synonymous 2/10 - 1
7-134136463-C-A c.109G>T p.D37Y Missense 2/10 - 1
7-134136468-G-A c.104C>T p.A35V Missense 2/10 - 1
7-134136469-C-T c.103G>A p.A35T Missense 2/10 - 1
7-134136473-C-G c.99G>C p.K33N Missense 2/10 - 1
7-134136473-C-T c.99G>A p.K33= Synonymous 2/10 - 1
7-134136478-C-A c.94G>T p.V32L Missense 2/10 - 1
7-134136478-C-G c.94G>C p.V32L Missense 2/10 - 1
7-134136478-C-T c.94G>A p.V32M Missense 2/10 - 1
7-134136481-C-A c.91G>T p.A31S Missense 2/10 - 1
7-134136481-C-T c.91G>A p.A31T Missense 2/10 - 1
7-134136486-G-A c.86C>T p.T29I Missense 2/10 - 2
7-134136493-G-T c.79C>A p.Q27K Missense 2/10 - 1
7-134136494-C-A c.78G>T p.G26= Synonymous 2/10 - 1
7-134136496-C-A c.76G>T p.G26W Missense 2/10 - 1
7-134136496-C-G c.76G>C p.G26R Missense 2/10 - 2
7-134136496-C-T c.76G>A p.G26R Missense 2/10 - 2
7-134136501-G-A c.71C>T p.P24L Missense 2/10 - 1
7-134136503-G-A c.69C>T p.S23= Synonymous 2/10 - 1
7-134136584-A-C c.67-79T>G - IntronicSNV - 1/9 5
7-134137705-C-T c.67-1200G>A - IntronicSNV - 1/9 1
7-134138380-C-A c.67-1875G>T - IntronicSNV - 1/9 1
7-134142068-A-C c.66+1681T>G - IntronicSNV - 1/9 1
7-134143690-T-C c.66+59A>G - IntronicSNV - 1/9 8
7-134143747-A-G c.66+2T>C - IntronicSNV - 1/9 1
7-134143749-C-T c.66G>A p.K22= Synonymous 1/10 - 2
7-134143751-T-C c.64A>G p.K22E Missense 1/10 - 1
7-134143756-G-A c.59C>T p.T20I Missense 1/10 - 1
7-134143757-T-C c.58A>G p.T20A Missense 1/10 - 1
7-134143762-AA-GC c.52_53delinsGC p.L18A Missense 1/10 - 1
7-134143769-G-C c.46C>G p.L16V Missense 1/10 - 1
7-134143770-G-C c.45C>G p.I15M Missense 1/10 - 1
7-134143772-T-A c.43A>T p.I15F Missense 1/10 - 3
7-134143772-T-C c.43A>G p.I15V Missense 1/10 - 2
7-134143774-G-A c.41C>T p.P14L Missense 1/10 - 2
7-134143774-G-C c.41C>G p.P14R Missense 1/10 - 3
7-134143775-G-A c.40C>T p.P14S Missense 1/10 - 2
7-134143777-AT-GC c.37_38delinsGC p.M13A Missense 1/10 - 1
7-134143779-C-T c.36G>A p.K12= Synonymous 1/10 - 1
7-134143780-T-C c.35A>G p.K12R Missense 1/10 - 1
7-134143782-GG-CT c.32_33delinsAG p.A11E Missense 1/10 - 3
7-134143783-GC-TT c.31_32delinsAA p.A11N Missense 1/10 - 1
7-134143785-G-A c.30C>T p.G10= Synonymous 1/10 - 1
7-134143785-G-C c.30C>G p.G10= Synonymous 1/10 - 1
7-134143785-G-T c.30C>A p.G10= Synonymous 1/10 - 1
7-134143786-C-T c.29G>A p.G10D Missense 1/10 - 2
7-134143802-G-A c.13C>T p.L5F Missense 1/10 - 1
7-134143803-ACG-CTT c.10_12delinsAAG p.R4K Missense 1/10 - 1
7-134143805-G-T c.10C>A p.R4S Missense 1/10 - 1
7-134143811-C-T c.4G>A p.A2T Missense 1/10 - 1
7-134143812-C-A c.3G>T p.M1? Missense 1/10 - 1
7-134143812-C-G c.3G>C p.M1? Missense 1/10 - 1
7-134143812-C-T c.3G>A p.M1? Missense 1/10 - 3
7-134143813-A-G c.2T>C p.M1? Missense 1/10 - 1