LRAT

LRAT lecithin retinol acyltransferase

Annotation transcript: NM_004744.5

369 unique variant annotations were identified in 237 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
4-155665464-C-T c.-15C>T - IntronicSNV 1/3 - 1
4-155665479-A-G c.1A>G p.M1? Missense 2/3 - 1
4-155665484-G-T c.6G>T p.K2N Missense 2/3 - 1
4-155665485-A-G c.7A>G p.N3D Missense 2/3 - 1
4-155665486-AC-A c.12del p.M5Cfs*54 Frameshift 2/3 - 5
4-155665492-T-C c.14T>C p.M5T Missense 2/3 - 1
4-155665501-T-A c.23T>A p.V8E Missense 2/3 - 1
4-155665503-G-A c.25G>A p.V9M Missense 2/3 - 4
4-155665506-TC-CT c.28_29delinsCT p.S10L Missense 2/3 - 1
4-155665506-TC-GA c.28_29inv p.S10D Missense 2/3 - 1
4-155665506-T-G c.28T>G p.S10A Missense 2/3 - 1
4-155665507-C-A c.29C>A p.S10Y Missense 2/3 - 2
4-155665507-C-G c.29C>G p.S10C Missense 2/3 - 1
4-155665507-C-T c.29C>T p.S10F Missense 2/3 - 1
4-155665508-T-A c.30T>A p.S10= Synonymous 2/3 - 1
4-155665508-T-C c.30T>C p.S10= Synonymous 2/3 - 1
4-155665508-T-G c.30T>G p.S10= Synonymous 2/3 - 1
4-155665512-CT-GC c.34_35delinsGC p.L12A Missense 2/3 - 1
4-155665515-CT-GC c.37_38delinsGC p.L13A Missense 2/3 - 1
4-155665518-G-A c.40G>A p.E14K Missense 2/3 - 1
4-155665518-GA-CT c.40_41delinsCT p.E14L Missense 2/3 - 1
4-155665518-GA-TT c.40_41delinsTT p.E14L Missense 2/3 - 3
4-155665518-G-T c.40G>T p.E14* Nonsense 2/3 - 1
4-155665524-C-A c.46C>A p.L16M Missense 2/3 - 1
4-155665532-C-A c.54C>A p.L18= Synonymous 2/3 - 1
4-155665532-C-G c.54C>G p.L18= Synonymous 2/3 - 1
4-155665532-C-T c.54C>T p.L18= Synonymous 2/3 - 2
4-155665540-A-G c.62A>G p.N21S Missense 2/3 - 1
4-155665541-C-T c.63C>T p.N21= Synonymous 2/3 - 1
4-155665545-A-T c.67A>T p.T23S Missense 2/3 - 2
4-155665548-C-T c.70C>T p.L24F Missense 2/3 - 1
4-155665549-T-C c.71T>C p.L24P Missense 2/3 - 1
4-155665550-C-A c.72C>A p.L24= Synonymous 2/3 - 1
4-155665550-C-G c.72C>G p.L24= Synonymous 2/3 - 1
4-155665550-C-T c.72C>T p.L24= Synonymous 2/3 - 4
4-155665552-T-A c.74T>A p.F25Y Missense 2/3 - 3
4-155665554-A-C c.76A>C p.S26R Missense 2/3 - 1
4-155665556-T-A c.78T>A p.S26R Missense 2/3 - 1
4-155665556-T-G c.78T>G p.S26R Missense 2/3 - 1
4-155665557-T-G c.79T>G p.S27A Missense 2/3 - 1
4-155665558-C-G c.80C>G p.S27W Missense 2/3 - 2
4-155665559-G-A c.81G>A p.S27= Synonymous 2/3 - 5
4-155665559-G-T c.81G>T p.S27= Synonymous 2/3 - 1
4-155665562-C-T c.84C>T p.G28= Synonymous 2/3 - 1
4-155665563-G-A c.85G>A p.A29T Missense 2/3 - 1
4-155665563-G-C c.85G>C p.A29P Missense 2/3 - 3
4-155665563-GC-AA c.85_86delinsAA p.A29N Missense 2/3 - 1
4-155665563-GC-CT c.85_86delinsCT p.A29L Missense 2/3 - 1
4-155665563-G-T c.85G>T p.A29S Missense 2/3 - 1
4-155665564-C-A c.86C>A p.A29D Missense 2/3 - 1
4-155665565-C-A c.87C>A p.A29= Synonymous 2/3 - 1
4-155665565-C-G c.87C>G p.A29= Synonymous 2/3 - 1
4-155665565-C-T c.87C>T p.A29= Synonymous 2/3 - 1
4-155665566-G-A c.88G>A p.A30T Missense 2/3 - 2
4-155665567-C-T c.89C>T p.A30V Missense 2/3 - 1
4-155665568-G-A c.90G>A p.A30= Synonymous 2/3 - 1
4-155665570-G-A c.92G>A p.G31D Missense 2/3 - 1
4-155665571-C-A c.93C>A p.G31= Synonymous 2/3 - 1
4-155665571-C-G c.93C>G p.G31= Synonymous 2/3 - 1
4-155665571-C-T c.93C>T p.G31= Synonymous 2/3 - 1
4-155665572-G-T c.94G>T p.E32* Nonsense 2/3 - 1
4-155665575-G-A c.97G>A p.D33N Missense 2/3 - 1
4-155665575-G-T c.97G>T p.D33Y Missense 2/3 - 2
4-155665577-C-T c.99C>T p.D33= Synonymous 2/3 - 1
4-155665582-G-A c.104G>A p.G35E Missense 2/3 - 5
4-155665585-G-T c.107G>T p.R36M Missense 2/3 - 4
4-155665586-G-C c.108G>C p.R36S Missense 2/3 - 1
4-155665586-G-T c.108G>T p.R36S Missense 2/3 - 1
4-155665592-T-G c.114T>G p.S38R Missense 2/3 - 1
4-155665599-G-A c.121G>A p.E41K Missense 2/3 - 1
4-155665603-C-G c.125C>G p.T42S Missense 2/3 - 1
4-155665609-C-A c.131C>A p.S44Y Missense 2/3 - 1
4-155665609-C-T c.131C>T p.S44F Missense 2/3 - 1
4-155665613-C-T c.135C>T p.F45= Synonymous 2/3 - 3
4-155665614-C-T c.136C>T p.H46Y Missense 2/3 - 1
4-155665616-C-A c.138C>A p.H46Q Missense 2/3 - 1
4-155665616-C-G c.138C>G p.H46Q Missense 2/3 - 1
4-155665617-C-G c.139C>G p.R47G Missense 2/3 - 3
4-155665617-C-T c.139C>T p.R47* Nonsense 2/3 - 2
4-155665623-G-A c.145G>A p.D49N Missense 2/3 - 1
4-155665626-G-A c.148G>A p.V50M Missense 2/3 - 1
4-155665629-C-G c.151C>G p.L51V Missense 2/3 - 1
4-155665629-C-T c.151C>T p.L51= Synonymous 2/3 - 3
4-155665631-G-A c.153G>A p.L51= Synonymous 2/3 - 2
4-155665631-G-C c.153G>C p.L51= Synonymous 2/3 - 2
4-155665631-G-T c.153G>T p.L51= Synonymous 2/3 - 2
4-155665632-G-A c.154G>A p.E52K Missense 2/3 - 1
4-155665633-A-G c.155A>G p.E52G Missense 2/3 - 2
4-155665635-GTG-TTT c.157_159delinsTTT p.V53F Missense 2/3 - 1
4-155665636-T-C c.158T>C p.V53A Missense 2/3 - 1
4-155665637-G-A c.159G>A p.V53= Synonymous 2/3 - 1
4-155665641-C-G c.163C>G p.R55G Missense 2/3 - 3
4-155665641-C-T c.163C>T p.R55W Missense 2/3 - 4
4-155665644-A-G c.166A>G p.T56A Missense 2/3 - 1
4-155665644-A-T c.166A>T p.T56S Missense 2/3 - 2
4-155665645-C-G c.167C>G p.T56S Missense 2/3 - 1
4-155665649-C-A c.171C>A p.H57Q Missense 2/3 - 1
4-155665649-C-G c.171C>G p.H57Q Missense 2/3 - 1
4-155665650-C-T c.172C>T p.L58= Synonymous 2/3 - 1
4-155665652-G-A c.174G>A p.L58= Synonymous 2/3 - 1
4-155665652-G-C c.174G>C p.L58= Synonymous 2/3 - 1
4-155665652-G-T c.174G>T p.L58= Synonymous 2/3 - 1
4-155665658-C-A c.180C>A p.H60Q Missense 2/3 - 1
4-155665658-C-G c.180C>G p.H60Q Missense 2/3 - 1
4-155665659-T-A c.181T>A p.Y61N Missense 2/3 - 2
4-155665659-T-G c.181T>G p.Y61D Missense 2/3 - 3
4-155665667-C-A c.189C>A p.I63= Synonymous 2/3 - 1
4-155665676-GA-G c.198del p.D67Tfs*7 Frameshift 2/3 - 1
4-155665677-G-T c.199G>T p.D67Y Missense 2/3 - 1
4-155665678-A-C c.200A>C p.D67A Missense 2/3 - 1
4-155665683-C-A c.205C>A p.R69S Missense 2/3 - 2
4-155665683-C-T c.205C>T p.R69C Missense 2/3 - 1
4-155665684-G-A c.206G>A p.R69H Missense 2/3 - 3
4-155665690-C-T c.212C>T p.A71V Missense 2/3 - 1
4-155665691-C-T c.213C>T p.A71= Synonymous 2/3 - 1
4-155665692-C-A c.214C>A p.H72N Missense 2/3 - 1
4-155665694-C-A c.216C>A p.H72Q Missense 2/3 - 2
4-155665694-C-G c.216C>G p.H72Q Missense 2/3 - 2
4-155665695-A-G c.217A>G p.M73V Missense 2/3 - 1
4-155665695-CAT-C c.217_218del p.M73Dfs*48 Frameshift 2/3 - 5
4-155665697-G-A c.219G>A p.M73I Missense 2/3 - 1
4-155665697-G-C c.219G>C p.M73I Missense 2/3 - 1
4-155665697-G-T c.219G>T p.M73I Missense 2/3 - 1
4-155665698-A-G c.220A>G p.M74V Missense 2/3 - 3
4-155665699-T-C c.221T>C p.M74T Missense 2/3 - 1
4-155665700-G-A c.222G>A p.M74I Missense 2/3 - 1
4-155665700-G-C c.222G>C p.M74I Missense 2/3 - 1
4-155665700-G-T c.222G>T p.M74I Missense 2/3 - 1
4-155665702-C-T c.224C>T p.P75L Missense 2/3 - 1
4-155665704-G-A c.226G>A p.D76N Missense 2/3 - 3
4-155665706-C-T c.228C>T p.D76= Synonymous 2/3 - 1
4-155665711-CTGTTGGCCCT-C c.233_242del p.L78Rfs*85 Frameshift 2/3 - 3
4-155665711-T-G c.233T>G p.L78R Missense 2/3 - 1
4-155665714-T-G c.236T>G p.L79W Missense 2/3 - 2
4-155665715-G-C c.237G>C p.L79F Missense 2/3 - 2
4-155665715-G-T c.237G>T p.L79F Missense 2/3 - 3
4-155665717-C-G c.239C>G p.A80G Missense 2/3 - 1
4-155665717-C-T c.239C>T p.A80V Missense 2/3 - 1
4-155665719-CCT-C c.241_242del p.L81Dfs*40 Frameshift 2/3 - 1
4-155665722-A-G c.244A>G p.T82A Missense 2/3 - 2
4-155665727-C-A c.249C>A p.D83E Missense 2/3 - 1
4-155665727-C-G c.249C>G p.D83E Missense 2/3 - 1
4-155665727-C-T c.249C>T p.D83= Synonymous 2/3 - 2
4-155665737-C-T c.259C>T p.R87C Missense 2/3 - 2
4-155665738-G-A c.260G>A p.R87H Missense 2/3 - 6
4-155665738-G-T c.260G>T p.R87L Missense 2/3 - 1
4-155665741-C-T c.263C>T p.T88M Missense 2/3 - 1
4-155665742-G-A c.264G>A p.T88= Synonymous 2/3 - 4
4-155665742-G-C c.264G>C p.T88= Synonymous 2/3 - 2
4-155665742-G-T c.264G>T p.T88= Synonymous 2/3 - 2
4-155665743-C-T c.265C>T p.Q89* Nonsense 2/3 - 2
4-155665748-G-A c.270G>A p.K90= Synonymous 2/3 - 1
4-155665749-G-A c.271G>A p.V91M Missense 2/3 - 1
4-155665754-C-A c.276C>A p.V92= Synonymous 2/3 - 2
4-155665754-C-G c.276C>G p.V92= Synonymous 2/3 - 1
4-155665754-C-T c.276C>T p.V92= Synonymous 2/3 - 1
4-155665756-C-G c.278C>G p.S93C Missense 2/3 - 1
4-155665757-C-A c.279C>A p.S93= Synonymous 2/3 - 1
4-155665757-C-G c.279C>G p.S93= Synonymous 2/3 - 1
4-155665757-C-T c.279C>T p.S93= Synonymous 2/3 - 1
4-155665758-A-G c.280A>G p.N94D Missense 2/3 - 1
4-155665760-C-A c.282C>A p.N94K Missense 2/3 - 1
4-155665760-C-G c.282C>G p.N94K Missense 2/3 - 1
4-155665764-C-T c.286C>T p.R96C Missense 2/3 - 3
4-155665765-G-A c.287G>A p.R96H Missense 2/3 - 2
4-155665767-C-A c.289C>A p.L97I Missense 2/3 - 1
4-155665767-C-T c.289C>T p.L97F Missense 2/3 - 1
4-155665772-C-A c.294C>A p.I98= Synonymous 2/3 - 1
4-155665776-G-A c.298G>A p.G100S Missense 2/3 - 1
4-155665776-G-T c.298G>T p.G100C Missense 2/3 - 2
4-155665777-G-A c.299G>A p.G100D Missense 2/3 - 1
4-155665778-C-A c.300C>A p.G100= Synonymous 2/3 - 1
4-155665778-C-G c.300C>G p.G100= Synonymous 2/3 - 1
4-155665778-C-T c.300C>T p.G100= Synonymous 2/3 - 1
4-155665779-G-A c.301G>A p.V101I Missense 2/3 - 3
4-155665788-A-C c.310A>C p.K104Q Missense 2/3 - 2
4-155665794-G-A c.316G>A p.A106T Missense 2/3 - 2
4-155665794-G-T c.316G>T p.A106S Missense 2/3 - 3
4-155665797-A-C c.319A>C p.S107R Missense 2/3 - 1
4-155665799-C-A c.321C>A p.S107R Missense 2/3 - 1
4-155665799-C-G c.321C>G p.S107R Missense 2/3 - 2
4-155665803-C-T c.325C>T p.R109C Missense 2/3 - 8
4-155665804-G-A c.326G>A p.R109H Missense 2/3 - 1
4-155665804-G-T c.326G>T p.R109L Missense 2/3 - 1
4-155665805-C-T c.327C>T p.R109= Synonymous 2/3 - 1
4-155665806-G-A c.328G>A p.V110M Missense 2/3 - 1
4-155665806-GTG-TGT c.328_330delinsTGT p.V110C Missense 2/3 - 1
4-155665809-G-A c.331G>A p.D111N Missense 2/3 - 1
4-155665811-C-A c.333C>A p.D111E Missense 2/3 - 1
4-155665813-CA-TG c.335_336inv p.T112M Missense 2/3 - 1
4-155665820-G-A c.342G>A p.E114= Synonymous 2/3 - 3
4-155665820-G-C c.342G>C p.E114D Missense 2/3 - 1
4-155665824-T-C c.346T>C p.F116L Missense 2/3 - 3
4-155665826-C-A c.348C>A p.F116L Missense 2/3 - 1
4-155665826-C-G c.348C>G p.F116L Missense 2/3 - 1
4-155665831-A-G c.353A>G p.Y118C Missense 2/3 - 1
4-155665832-C-A c.354C>A p.Y118* Nonsense 2/3 - 2
4-155665832-C-G c.354C>G p.Y118* Nonsense 2/3 - 2
4-155665846-T-C c.368T>C p.L123P Missense 2/3 - 1
4-155665849-T-A c.371T>A p.V124D Missense 2/3 - 1
4-155665850-C-A c.372C>A p.V124= Synonymous 2/3 - 1
4-155665850-C-G c.372C>G p.V124= Synonymous 2/3 - 1
4-155665850-C-T c.372C>T p.V124= Synonymous 2/3 - 1
4-155665856-C-A c.378C>A p.H126Q Missense 2/3 - 1
4-155665856-C-G c.378C>G p.H126Q Missense 2/3 - 1
4-155665860-G-A c.382G>A p.D128N Missense 2/3 - 1
4-155665862-C-T c.384C>T p.D128= Synonymous 2/3 - 1
4-155665867-C-T c.389C>T p.S130F Missense 2/3 - 9
4-155665871-C-A c.393C>A p.L131= Synonymous 2/3 - 1
4-155665871-C-G c.393C>G p.L131= Synonymous 2/3 - 1
4-155665871-C-T c.393C>T p.L131= Synonymous 2/3 - 2
4-155665875-A-G c.397A>G p.K133E Missense 2/3 - 1
4-155665876-A-C c.398A>C p.K133T Missense 2/3 - 2
4-155665874-GAA-G c.400_401del p.K134Gfs*12 Frameshift 2/3 - 3
4-155665879-A-G c.401A>G p.K134R Missense 2/3 - 1
4-155665880-G-C c.402G>C p.K134N Missense 2/3 - 1
4-155665880-G-T c.402G>T p.K134N Missense 2/3 - 1
4-155665881-G-T c.403G>T p.A135S Missense 2/3 - 4
4-155665882-C-T c.404C>T p.A135V Missense 2/3 - 1
4-155665889-C-A c.411C>A p.L137= Synonymous 2/3 - 1
4-155665889-C-G c.411C>G p.L137= Synonymous 2/3 - 2
4-155665889-C-T c.411C>T p.L137= Synonymous 2/3 - 1
4-155665892-C-T c.414C>T p.N138= Synonymous 2/3 - 4
4-155665893-G-A c.415G>A p.E139K Missense 2/3 - 3
4-155665895-G-A c.417G>A p.E139= Synonymous 2/3 - 1
4-155665896-G-A c.418G>A p.E140K Missense 2/3 - 5
4-155665896-G-T c.418G>T p.E140* Nonsense 2/3 - 1
4-155665903-C-G c.425C>G p.A142G Missense 2/3 - 1
4-155665903-C-T c.425C>T p.A142V Missense 2/3 - 1
4-155665904-G-A c.426G>A p.A142= Synonymous 2/3 - 2
4-155665901-GGC-G c.427_428del p.R143Efs*3 Frameshift 2/3 - 1
4-155665905-C-T c.427C>T p.R143W Missense 2/3 - 1
4-155665906-G-A c.428G>A p.R143Q Missense 2/3 - 3
4-155665906-G-T c.428G>T p.R143L Missense 2/3 - 1
4-155665912-C-CT c.435dup p.E146* Nonsense 2/3 - 1
4-155665914-G-GA c.440dup p.L148Afs*36 Frameshift 2/3 - 1
4-155665918-A-G c.440A>G p.K147R Missense 2/3 - 1
4-155665919-G-C c.441G>C p.K147N Missense 2/3 - 3
4-155665919-G-T c.441G>T p.K147N Missense 2/3 - 2
4-155665926-G-A c.448G>A p.G150S Missense 2/3 - 2
4-155665926-G-T c.448G>T p.G150C Missense 2/3 - 2
4-155665924-T-TG c.449dup p.F151Lfs*33 Frameshift 2/3 - 1
4-155665929-T-C c.451T>C p.F151L Missense 2/3 - 1
4-155665931-T-A c.453T>A p.F151L Missense 2/3 - 1
4-155665931-T-G c.453T>G p.F151L Missense 2/3 - 1
4-155665933-C-A c.455C>A p.T152N Missense 2/3 - 1
4-155665935-C-A c.457C>A p.P153T Missense 2/3 - 1
4-155665935-C-T c.457C>T p.P153S Missense 2/3 - 2
4-155665936-C-G c.458C>G p.P153R Missense 2/3 - 1
4-155665932-A-AC c.459dup p.Y154Lfs*30 Frameshift 2/3 - 3
4-155665942-G-T c.464G>T p.S155I Missense 2/3 - 1
4-155665948-T-C c.470T>C p.L157P Missense 2/3 - 1
4-155665951-G-A c.473G>A p.W158* Nonsense 2/3 - 2
4-155665953-A-C c.475A>C p.N159H Missense 2/3 - 1
4-155665955-C-G c.477C>G p.N159K Missense 2/3 - 1
4-155665955-C-T c.477C>T p.N159= Synonymous 2/3 - 2
4-155665959-T-A c.481T>A p.C161S Missense 2/3 - 1
4-155665959-TG-GC c.481_482delinsGC p.C161A Missense 2/3 - 2
4-155665960-G-C c.482G>C p.C161S Missense 2/3 - 1
4-155665960-G-A c.482G>A p.C161Y Missense 2/3 - 2
4-155665965-C-G c.487C>G p.H163D Missense 2/3 - 1
4-155665967-C-A c.489C>A p.H163Q Missense 2/3 - 1
4-155665967-C-G c.489C>G p.H163Q Missense 2/3 - 1
4-155665967-C-T c.489C>T p.H163= Synonymous 2/3 - 1
4-155665968-T-C c.490T>C p.F164L Missense 2/3 - 1
4-155665970-C-A c.492C>A p.F164L Missense 2/3 - 1
4-155665970-C-G c.492C>G p.F164L Missense 2/3 - 3
4-155665970-C-T c.492C>T p.F164= Synonymous 2/3 - 1
4-155665971-G-T c.493G>T p.V165L Missense 2/3 - 1
4-155665972-T-C c.494T>C p.V165A Missense 2/3 - 1
4-155665975-C-T c.497C>T p.T166I Missense 2/3 - 1
4-155665980-T-A c.502T>A p.C168S Missense 2/3 - 1
4-155665980-TG-GC c.502_503delinsGC p.C168A Missense 2/3 - 1
4-155665981-G-C c.503G>C p.C168S Missense 2/3 - 1
4-155665982-C-A c.504C>A p.C168* Nonsense 2/3 - 1
4-155665993-C-A c.515C>A p.T172N Missense 2/3 - 1
4-155665993-C-T c.515C>T p.T172I Missense 2/3 - 1
4-155665996-C-T c.518C>T p.P173L Missense 2/3 - 5
4-155665997-CG-C c.519del p.I174Sfs*12 Frameshift 2/3 - 2
4-155665998-ATCAGTCCCCAG-A c.523_533del p.S175Rfs*5 Frameshift 2/3 - 1
4-155666001-AG-CC c.523_524delinsCC p.S175P Missense 2/3 - 1
4-155666001-A-C c.523A>C p.S175R Missense 2/3 - 6
4-155666003-T-A c.525T>A p.S175R Missense 2/3 - 11
4-155666003-T-G c.525T>G p.S175R Missense 2/3 - 7
4-155666005-C-T c.527C>T p.P176L Missense 2/3 - 1
4-155666007-CA-TC c.529_530delinsTC p.Q177S Missense 2/3 - 1
4-155666007-C-G c.529C>G p.Q177E Missense 2/3 - 1
4-155666009-G-C c.531G>C p.Q177H Missense 2/3 - 3
4-155666009-G-T c.531G>T p.Q177H Missense 2/3 - 2
4-155666012-C-A c.534C>A p.S178= Synonymous 2/3 - 1
4-155666012-C-G c.534C>G p.S178= Synonymous 2/3 - 1
4-155666012-C-T c.534C>T p.S178= Synonymous 2/3 - 2
4-155666013-G-A c.535G>A p.D179N Missense 2/3 - 2
4-155666013-G-C c.535G>C p.D179H Missense 2/3 - 2
4-155666013-G-T c.535G>T p.D179Y Missense 2/3 - 2
4-155666016-A-T c.538A>T p.K180* Nonsense 2/3 - 1
4-155666040-G-A c.540+22G>A - IntronicSNV - 2/2 1
4-155666151-C-T c.540+133C>T - IntronicSNV - 2/2 1
4-155666157-TCC-T c.540+139_540+140del - IntronicDeletion - 2/2 1
4-155666158-CCTTTT-C c.540+140_540+144del - IntronicDeletion - 2/2 1
4-155666169-T-C c.540+151T>C - IntronicSNV - 2/2 2
4-155666922-GC-G c.540+910del - IntronicDeletion - 2/2 1
4-155666935-T-G c.540+917T>G - IntronicSNV - 2/2 4
4-155669865-C-T c.541-271C>T - IntronicSNV - 2/2 1
4-155670121-T-G c.541-15T>G - IntronicSNV - 2/2 1
4-155670136-T-G c.541T>G p.F181V Missense 3/3 - 1
4-155670139-T-A c.544T>A p.C182S Missense 3/3 - 1
4-155670140-G-C c.545G>C p.C182S Missense 3/3 - 1
4-155670146-C-T c.551C>T p.T184I Missense 3/3 - 1
4-155670149-T-C c.554T>C p.V185A Missense 3/3 - 2
4-155670163-C-T c.568C>T p.R190C Missense 3/3 - 9
4-155670164-G-A c.569G>A p.R190H Missense 3/3 - 7
4-155670165-T-G c.570T>G p.R190= Synonymous 3/3 - 1
4-155670166-G-A c.571G>A p.D191N Missense 3/3 - 1
4-155670170-A-G c.575A>G p.Q192R Missense 3/3 - 1
4-155670172-A-G c.577A>G p.R193G Missense 3/3 - 1
4-155670172-AG-CT c.577_578inv p.R193L Missense 3/3 - 1
4-155670173-G-A c.578G>A p.R193K Missense 3/3 - 1
4-155670176-G-T c.581G>T p.S194I Missense 3/3 - 2
4-155670187-T-G c.592T>G p.S198A Missense 3/3 - 1
4-155670190-G-T c.595G>T p.A199S Missense 3/3 - 3
4-155670193-G-A c.598G>A p.V200I Missense 3/3 - 1
4-155670200-G-T c.605G>T p.G202V Missense 3/3 - 1
4-155670204-G-A c.609G>A p.L203= Synonymous 3/3 - 1
4-155670206-C-T c.611C>T p.A204V Missense 3/3 - 2
4-155670207-G-A c.612G>A p.A204= Synonymous 3/3 - 3
4-155670207-G-C c.612G>C p.A204= Synonymous 3/3 - 2
4-155670207-G-T c.612G>T p.A204= Synonymous 3/3 - 2
4-155670207-GTC-G c.614_615del p.S205Yfs*51 Frameshift 3/3 - 3
4-155670212-T-A c.617T>A p.I206K Missense 3/3 - 2
4-155670218-G-T c.623G>T p.C208F Missense 3/3 - 3
4-155670221-C-T c.626C>T p.T209M Missense 3/3 - 2
4-155670222-G-A c.627G>A p.T209= Synonymous 3/3 - 2
4-155670222-G-C c.627G>C p.T209= Synonymous 3/3 - 1
4-155670222-G-T c.627G>T p.T209= Synonymous 3/3 - 1
4-155670223-G-A c.628G>A p.G210S Missense 3/3 - 1
4-155670224-G-T c.629G>T p.G210V Missense 3/3 - 1
4-155670230-T-A c.635T>A p.V212E Missense 3/3 - 1
4-155670232-T-C c.637T>C p.S213P Missense 3/3 - 1
4-155670233-C-T c.638C>T p.S213L Missense 3/3 - 1
4-155670238-A-G c.643A>G p.T215A Missense 3/3 - 3
4-155670247-C-A c.652C>A p.P218T Missense 3/3 - 1
4-155670250-G-T c.655G>T p.A219S Missense 3/3 - 5
4-155670251-C-T c.656C>T p.A219V Missense 3/3 - 1
4-155670253-A-C c.658A>C p.I220L Missense 3/3 - 1
4-155670255-T-A c.660T>A p.I220= Synonymous 3/3 - 1
4-155670255-T-C c.660T>C p.I220= Synonymous 3/3 - 1
4-155670260-T-C c.665T>C p.I222T Missense 3/3 - 3
4-155670262-C-A c.667C>A p.P223T Missense 3/3 - 4
4-155670263-C-T c.668C>T p.P223L Missense 3/3 - 4
4-155670265-T-C c.670T>C p.F224L Missense 3/3 - 1
4-155670267-C-A c.672C>A p.F224L Missense 3/3 - 1
4-155670267-C-G c.672C>G p.F224L Missense 3/3 - 1
4-155670271-C-T c.676C>T p.L226= Synonymous 3/3 - 3
4-155670274-T-C c.679T>C p.W227R Missense 3/3 - 1
4-155670275-G-A c.680G>A p.W227* Nonsense 3/3 - 2
4-155670276-G-A c.681G>A p.W227* Nonsense 3/3 - 4
4-155670277-A-C c.682A>C p.M228L Missense 3/3 - 1
4-155670278-T-C c.683T>C p.M228T Missense 3/3 - 1
4-155670281-C-A c.686C>A p.A229D Missense 3/3 - 2
4-155671105-A-C c.*817A>C - 3-UTRSNV 3/3 - 2
4-155671105-A-G c.*817A>G - 3-UTRSNV 3/3 - 2
4-155671626-T-G c.*1338T>G - 3-UTRSNV 3/3 - 2
4-155672155-C-T c.*1867C>T - 3-UTRSNV 3/3 - 3
4-155672751-T-A c.*2463T>A - 3-UTRSNV 3/3 - 1
4-155672751-T-C c.*2463T>C - 3-UTRSNV 3/3 - 1
4-155672913-A-G c.*2625A>G - 3-UTRSNV 3/3 - 1
4-155672958-G-A c.*2670G>A - 3-UTRSNV 3/3 - 2
4-155672958-G-T c.*2670G>T - 3-UTRSNV 3/3 - 2