IL5RA

IL5RA interleukin 5 receptor subunit alpha

Annotation transcript: NM_175726.4

511 unique variant annotations were identified in 317 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
3-3108083-G-A c.*3826C>T - 3-UTRSNV 12/12 - 1
3-3108242-T-G c.*3667A>C - 3-UTRSNV 12/12 - 1
3-3108637-T-C c.*3272A>G - 3-UTRSNV 12/12 - 2
3-3108711-C-T c.*3198G>A - 3-UTRSNV 12/12 - 1
3-3109444-C-T c.*2465G>A - 3-UTRSNV 12/12 - 1
3-3109632-G-C c.*2277C>G - 3-UTRSNV 12/12 - 2
3-3109632-G-T c.*2277C>A - 3-UTRSNV 12/12 - 2
3-3110293-C-A c.*1616G>T - 3-UTRSNV 12/12 - 1
3-3111047-G-A c.*862C>T - 3-UTRSNV 12/12 - 1
3-3111316-C-CTG c.*592_*593insCA - 3-UTRInsertion 12/12 - 1
3-3111436-C-T c.*473G>A - 3-UTRSNV 12/12 - 2
3-3111458-G-A c.*451C>T - 3-UTRSNV 12/12 - 5
3-3111923-C-T c.1249G>A p.D417N Missense 12/12 - 1
3-3111924-C-A c.1248G>T p.E416D Missense 12/12 - 1
3-3111924-C-G c.1248G>C p.E416D Missense 12/12 - 1
3-3111940-C-G c.1232G>C p.G411A Missense 12/12 - 1
3-3111940-C-T c.1232G>A p.G411E Missense 12/12 - 4
3-3111945-C-T c.1227G>A p.K409= Synonymous 12/12 - 1
3-3111948-C-T c.1224G>A p.E408= Synonymous 12/12 - 3
3-3111950-C-G c.1222G>C p.E408Q Missense 12/12 - 3
3-3111954-A-T c.1218T>A p.Y406* Nonsense 12/12 - 1
3-3111955-T-A c.1217A>T p.Y406F Missense 12/12 - 1
3-3111958-C-G c.1214G>C p.C405S Missense 12/12 - 1
3-3111959-A-T c.1213T>A p.C405S Missense 12/12 - 1
3-3111960-G-A c.1212C>T p.I404= Synonymous 12/12 - 3
3-3111964-A-G c.1208T>C p.V403A Missense 12/12 - 1
3-3111968-C-T c.1204G>A p.E402K Missense 12/12 - 2
3-3111974-C-T c.1198G>A p.E400K Missense 12/12 - 3
3-3111975-C-A c.1197G>T p.T399= Synonymous 12/12 - 1
3-3111975-C-T c.1197G>A p.T399= Synonymous 12/12 - 1
3-3111976-G-A c.1196C>T p.T399M Missense 12/12 - 1
3-3111976-G-T c.1196C>A p.T399K Missense 12/12 - 1
3-3111981-A-G c.1191T>C p.S397= Synonymous 12/12 - 1
3-3111982-C-T c.1190G>A p.S397N Missense 12/12 - 1
3-3111992-C-T c.1180G>A p.A394T Missense 12/12 - 1
3-3113124-T-A c.1177-1129A>T - IntronicSNV - 11/11 1
3-3113124-T-C c.1177-1129A>G - IntronicSNV - 11/11 1
3-3113831-C-G c.1177-1836G>C - IntronicSNV - 11/11 1
3-3115478-T-C c.1176+988A>G - IntronicSNV - 11/11 4
3-3115514-C-A c.1176+952G>T - IntronicSNV - 11/11 1
3-3116323-G-A c.1176+143C>T - IntronicSNV - 11/11 1
3-3116375-T-A c.1176+91A>T - IntronicSNV - 11/11 1
3-3116416-G-A c.1176+50C>T - IntronicSNV - 11/11 1
3-3116438-G-A c.1176+28C>T - IntronicSNV - 11/11 6
3-3116484-A-C c.1158T>G p.F386L Missense 11/12 - 1
3-3116484-A-T c.1158T>A p.F386L Missense 11/12 - 1
3-3116486-A-G c.1156T>C p.F386L Missense 11/12 - 1
3-3116487-G-A c.1155C>T p.L385= Synonymous 11/12 - 1
3-3116492-C-A c.1150G>T p.D384Y Missense 11/12 - 2
3-3116492-C-T c.1150G>A p.D384N Missense 11/12 - 3
3-3116503-CT-GC c.1138_1139delinsGC p.S380A Missense 11/12 - 1
3-3116507-T-A c.1135A>T p.K379* Nonsense 11/12 - 2
3-3116503-CT-C c.1138del p.S380Vfs*8 Frameshift 11/12 - 1
3-3116510-G-A c.1132C>T p.P378S Missense 11/12 - 1
3-3116516-G-C c.1126C>G p.P376A Missense 11/12 - 1
3-3116521-G-C c.1121C>G p.P374R Missense 11/12 - 1
3-3116525-G-A c.1117C>T p.P373S Missense 11/12 - 1
3-3116531-A-G c.1111T>C p.L371= Synonymous 11/12 - 1
3-3116533-T-C c.1109A>G p.K370R Missense 11/12 - 1
3-3116538-C-T c.1104G>A p.W368* Nonsense 11/12 - 2
3-3116539-C-T c.1103G>A p.W368* Nonsense 11/12 - 1
3-3116541-T-G c.1101A>C p.L367F Missense 11/12 - 1
3-3116546-G-A c.1096C>T p.H366Y Missense 11/12 - 1
3-3116546-G-T c.1096C>A p.H366N Missense 11/12 - 1
3-3116548-C-T c.1094G>A p.C365Y Missense 11/12 - 1
3-3116667-T-A c.1092-117A>T - IntronicSNV - 10/11 1
3-3117700-A-G c.1091+515T>C - IntronicSNV - 10/11 3
3-3118005-TTG-T c.1091+208_1091+209del - IntronicDeletion - 10/11 1
3-3118142-G-A c.1091+73C>T - IntronicSNV - 10/11 2
3-3118142-G-T c.1091+73C>A - IntronicSNV - 10/11 4
3-3118214-C-T c.1091+1G>A - IntronicSNV - 10/11 2
3-3118219-T-C c.1087A>G p.K363E Missense 10/12 - 1
3-3118229-C-T c.1077G>A p.S359= Synonymous 10/12 - 1
3-3118232-G-A c.1074C>T p.L358= Synonymous 10/12 - 1
3-3118234-G-A c.1072C>T p.L358F Missense 10/12 - 3
3-3118234-G-T c.1072C>A p.L358I Missense 10/12 - 1
3-3118237-T-A c.1069A>T p.I357F Missense 10/12 - 1
3-3118246-T-A c.1060A>T p.I354F Missense 10/12 - 1
3-3118254-A-G c.1052T>C p.I351T Missense 10/12 - 1
3-3118256-G-A c.1050C>T p.T350= Synonymous 10/12 - 1
3-3118256-G-C c.1050C>G p.T350= Synonymous 10/12 - 1
3-3118256-G-T c.1050C>A p.T350= Synonymous 10/12 - 1
3-3118257-G-A c.1049C>T p.T350I Missense 10/12 - 3
3-3118260-G-C c.1046C>G p.A349G Missense 10/12 - 1
3-3118263-A-G c.1043T>C p.M348T Missense 10/12 - 1
3-3118274-G-A c.1032C>T p.V344= Synonymous 10/12 - 1
3-3118281-C-A c.1025G>T p.W342L Missense 10/12 - 3
3-3118282-A-T c.1024T>A p.W342R Missense 10/12 - 1
3-3118285-C-T c.1021G>A p.E341K Missense 10/12 - 1
3-3118286-T-C c.1020A>G p.R340= Synonymous 10/12 - 1
3-3118288-T-G c.1018A>C p.R340= Synonymous 10/12 - 1
3-3118289-C-T c.1017G>A p.L339= Synonymous 10/12 - 1
3-3118291-A-G c.1015T>C p.L339= Synonymous 10/12 - 2
3-3118295-C-T c.1011G>A p.K337= Synonymous 10/12 - 2
3-3118303-C-T c.1003G>A p.E335K Missense 10/12 - 1
3-3118306-C-T c.1000G>A p.D334N Missense 10/12 - 2
3-3118311-C-T c.995G>A p.G332E Missense 10/12 - 7
3-3118498-A-G c.995-187T>C - IntronicSNV - 9/11 3
3-3121857-G-A c.995-3546C>T - IntronicSNV - 9/11 1
3-3124500-C-A c.995-6189G>T - IntronicSNV - 9/11 1
3-3125441-G-T c.995-7130C>A - IntronicSNV - 9/11 1
3-3126050-C-T c.995-7739G>A - IntronicSNV - 9/11 1
3-3126727-G-C c.994+7181C>G - IntronicSNV - 9/11 3
3-3127519-C-T c.994+6389G>A - IntronicSNV - 9/11 1
3-3129349-T-G c.994+4559A>C - IntronicSNV - 9/11 1
3-3129738-A-G c.994+4170T>C - IntronicSNV - 9/11 2
3-3130221-A-G c.994+3687T>C - IntronicSNV - 9/11 5
3-3130221-A-T c.994+3687T>A - IntronicSNV - 9/11 5
3-3130645-T-C c.994+3263A>G - IntronicSNV - 9/11 1
3-3131861-T-G c.994+2047A>C - IntronicSNV - 9/11 1
3-3131935-A-T c.994+1973T>A - IntronicSNV - 9/11 1
3-3131941-C-T c.994+1967G>A - IntronicSNV - 9/11 1
3-3131976-C-T c.994+1932G>A - IntronicSNV - 9/11 1
3-3131980-A-G c.994+1928T>C - IntronicSNV - 9/11 1
3-3132087-G-C c.994+1821C>G - IntronicSNV - 9/11 1
3-3132230-CT-C c.994+1677del - IntronicDeletion - 9/11 1
3-3132245-C-T c.994+1663G>A - IntronicSNV - 9/11 1
3-3133666-GA-G c.994+241del - IntronicDeletion - 9/11 1
3-3133791-G-A c.994+117C>T - IntronicSNV - 9/11 2
3-3133797-A-G c.994+111T>C - IntronicSNV - 9/11 1
3-3133835-G-T c.994+73C>A - IntronicSNV - 9/11 1
3-3133853-A-T c.994+55T>A - IntronicSNV - 9/11 1
3-3133854-C-T c.994+54G>A - IntronicSNV - 9/11 1
3-3133882-A-G c.994+26T>C - IntronicSNV - 9/11 1
3-3133896-T-G c.994+12A>C - IntronicSNV - 9/11 1
3-3133915-A-G c.987T>C p.I329= Synonymous 9/12 - 2
3-3133925-C-T c.977G>A p.S326N Missense 9/12 - 1
3-3133930-C-G c.972G>C p.E324D Missense 9/12 - 1
3-3133936-C-T c.966G>A p.W322* Nonsense 9/12 - 5
3-3133937-C-A c.965G>T p.W322L Missense 9/12 - 2
3-3133937-C-T c.965G>A p.W322* Nonsense 9/12 - 1
3-3133939-G-C c.963C>G p.L321= Synonymous 9/12 - 1
3-3133939-G-T c.963C>A p.L321= Synonymous 9/12 - 1
3-3133945-T-C c.957A>G p.A319= Synonymous 9/12 - 1
3-3133950-C-T c.952G>A p.E318K Missense 9/12 - 1
3-3133952-C-T c.950G>A p.R317K Missense 9/12 - 1
3-3133954-G-A c.948C>T p.C316= Synonymous 9/12 - 1
3-3133961-G-T c.941C>A p.S314Y Missense 9/12 - 1
3-3133968-C-A c.934G>T p.V312L Missense 9/12 - 2
3-3133968-C-T c.934G>A p.V312M Missense 9/12 - 1
3-3133972-T-A c.930A>T p.A310= Synonymous 9/12 - 1
3-3133972-T-C c.930A>G p.A310= Synonymous 9/12 - 1
3-3133972-T-G c.930A>C p.A310= Synonymous 9/12 - 1
3-3133974-C-G c.928G>C p.A310P Missense 9/12 - 2
3-3133974-C-T c.928G>A p.A310T Missense 9/12 - 1
3-3133975-T-A c.927A>T p.R309S Missense 9/12 - 1
3-3133975-T-G c.927A>C p.R309S Missense 9/12 - 1
3-3133979-A-T c.923T>A p.V308E Missense 9/12 - 1
3-3133982-T-C c.920A>G p.Q307R Missense 9/12 - 4
3-3133983-G-C c.919C>G p.Q307E Missense 9/12 - 1
3-3133990-G-A c.912C>T p.Y304= Synonymous 9/12 - 2
3-3133997-G-A c.905C>T p.S302F Missense 9/12 - 1
3-3133997-G-C c.905C>G p.S302C Missense 9/12 - 1
3-3134000-A-G c.902T>C p.L301P Missense 9/12 - 1
3-3134004-C-T c.898G>A p.D300N Missense 9/12 - 4
3-3134011-T-C c.891A>G p.I297M Missense 9/12 - 1
3-3134016-A-C c.886T>G p.S296A Missense 9/12 - 1
3-3134028-T-C c.874A>G p.N292D Missense 9/12 - 1
3-3134040-T-TA c.861_862insT p.K288* Nonsense 9/12 - 1
3-3134041-T-A c.861A>T p.E287D Missense 9/12 - 1
3-3134041-T-G c.861A>C p.E287D Missense 9/12 - 1
3-3134045-A-T c.857T>A p.I286K Missense 9/12 - 1
3-3136983-C-A c.855G>T p.Q285H Missense 8/12 - 1
3-3136986-C-A c.852G>T p.L284F Missense 8/12 - 3
3-3136986-C-G c.852G>C p.L284F Missense 8/12 - 1
3-3136993-C-A c.845G>T p.G282V Missense 8/12 - 2
3-3136993-C-G c.845G>C p.G282A Missense 8/12 - 1
3-3136993-C-T c.845G>A p.G282E Missense 8/12 - 1
3-3136994-C-G c.844G>C p.G282R Missense 8/12 - 1
3-3136994-C-T c.844G>A p.G282R Missense 8/12 - 2
3-3136995-A-G c.843T>C p.N281= Synonymous 8/12 - 2
3-3136998-C-A c.840G>T p.R280S Missense 8/12 - 1
3-3136998-C-G c.840G>C p.R280S Missense 8/12 - 1
3-3136998-C-T c.840G>A p.R280= Synonymous 8/12 - 1
3-3137000-T-G c.838A>C p.R280= Synonymous 8/12 - 1
3-3136999-C-T c.839G>A p.R280K Missense 8/12 - 2
3-3137002-G-T c.836C>A p.T279K Missense 8/12 - 1
3-3137010-T-C c.828A>G p.I276M Missense 8/12 - 2
3-3137019-T-C c.819A>G p.E273= Synonymous 8/12 - 1
3-3137022-A-G c.816T>C p.Y272= Synonymous 8/12 - 1
3-3137027-C-G c.811G>C p.D271H Missense 8/12 - 1
3-3137032-C-A c.806G>T p.C269F Missense 8/12 - 1
3-3137034-A-C c.804T>G p.H268Q Missense 8/12 - 1
3-3137034-A-T c.804T>A p.H268Q Missense 8/12 - 1
3-3137041-G-A c.797C>T p.P266L Missense 8/12 - 1
3-3137042-G-A c.796C>T p.P266S Missense 8/12 - 4
3-3137048-C-T c.790G>A p.A264T Missense 8/12 - 1
3-3137050-G-C c.788C>G p.S263C Missense 8/12 - 1
3-3137053-A-G c.785T>C p.V262A Missense 8/12 - 2
3-3137054-C-T c.784G>A p.V262M Missense 8/12 - 1
3-3137058-T-A c.780A>T p.K260N Missense 8/12 - 1
3-3137058-T-G c.780A>C p.K260N Missense 8/12 - 1
3-3137061-C-A c.777G>T p.E259D Missense 8/12 - 2
3-3137061-C-G c.777G>C p.E259D Missense 8/12 - 1
3-3137069-G-A c.769C>T p.Q257* Nonsense 8/12 - 2
3-3137073-A-C c.765T>G p.S255= Synonymous 8/12 - 1
3-3137073-A-G c.765T>C p.S255= Synonymous 8/12 - 1
3-3137073-A-T c.765T>A p.S255= Synonymous 8/12 - 1
3-3137074-G-T c.764C>A p.S255Y Missense 8/12 - 1
3-3137075-A-C c.763T>G p.S255A Missense 8/12 - 1
3-3137076-G-A c.762C>T p.L254= Synonymous 8/12 - 2
3-3137076-G-C c.762C>G p.L254= Synonymous 8/12 - 2
3-3137080-C-G c.758G>C p.R253P Missense 8/12 - 1
3-3137080-C-T c.758G>A p.R253H Missense 8/12 - 4
3-3137081-G-A c.757C>T p.R253C Missense 8/12 - 10
3-3137086-C-T c.752G>A p.G251E Missense 8/12 - 4
3-3137087-C-T c.751G>A p.G251R Missense 8/12 - 2
3-3137096-C-T c.742G>A p.E248K Missense 8/12 - 1
3-3137097-T-C c.741A>G p.A247= Synonymous 8/12 - 2
3-3137099-C-T c.739G>A p.A247T Missense 8/12 - 1
3-3137102-T-A c.736A>T p.T246S Missense 8/12 - 1
3-3137110-A-T c.728T>A p.L243Q Missense 8/12 - 1
3-3137112-T-A c.726A>T p.P242= Synonymous 8/12 - 1
3-3137112-T-C c.726A>G p.P242= Synonymous 8/12 - 1
3-3137112-T-G c.726A>C p.P242= Synonymous 8/12 - 1
3-3137113-G-A c.725C>T p.P242L Missense 8/12 - 1
3-3137114-G-A c.724C>T p.P242S Missense 8/12 - 1
3-3137115-A-C c.723T>G p.P241= Synonymous 8/12 - 1
3-3137115-A-G c.723T>C p.P241= Synonymous 8/12 - 2
3-3137115-A-T c.723T>A p.P241= Synonymous 8/12 - 1
3-3137116-G-C c.722C>G p.P241R Missense 8/12 - 1
3-3137117-G-A c.721C>T p.P241S Missense 8/12 - 6
3-3137126-G-A c.712C>T p.Q238* Nonsense 8/12 - 1
3-3137313-T-A c.710-185A>T - IntronicSNV - 7/11 1
3-3139383-C-A c.709+171G>T - IntronicSNV - 7/11 2
3-3139554-C-T c.709G>A p.D237N Missense 7/12 - 1
3-3139563-G-A c.700C>T p.H234Y Missense 7/12 - 3
3-3139566-G-T c.697C>A p.L233I Missense 7/12 - 1
3-3139568-G-A c.695C>T p.A232V Missense 7/12 - 1
3-3139569-C-A c.694G>T p.A232S Missense 7/12 - 1
3-3139570-A-G c.693T>C p.F231= Synonymous 7/12 - 1
3-3139576-C-A c.687G>T p.Q229H Missense 7/12 - 4
3-3139576-C-G c.687G>C p.Q229H Missense 7/12 - 2
3-3139581-C-T c.682G>A p.D228N Missense 7/12 - 5
3-3139583-A-G c.680T>C p.F227S Missense 7/12 - 1
3-3139591-G-C c.672C>G p.I224M Missense 7/12 - 2
3-3139595-G-T c.668C>A p.A223D Missense 7/12 - 1
3-3139598-G-A c.665C>T p.S222F Missense 7/12 - 1
3-3139598-G-T c.665C>A p.S222Y Missense 7/12 - 2
3-3139614-C-G c.649G>C p.G217R Missense 7/12 - 1
3-3139615-G-A c.648C>T p.N216= Synonymous 7/12 - 1
3-3139615-G-C c.648C>G p.N216K Missense 7/12 - 2
3-3139615-G-T c.648C>A p.N216K Missense 7/12 - 4
3-3139622-A-G c.641T>C p.L214P Missense 7/12 - 1
3-3139623-G-T c.640C>A p.L214I Missense 7/12 - 4
3-3139625-A-G c.638T>C p.V213A Missense 7/12 - 2
3-3139626-C-T c.637G>A p.V213M Missense 7/12 - 1
3-3139627-C-A c.636G>T p.A212= Synonymous 7/12 - 1
3-3139628-G-A c.635C>T p.A212V Missense 7/12 - 1
3-3139629-C-T c.634G>A p.A212T Missense 7/12 - 3
3-3139629-GC-G c.634del p.A212Rfs*28 Frameshift 7/12 - 1
3-3139635-A-T c.628T>A p.W210R Missense 7/12 - 1
3-3139636-G-GCTA c.626_627insTAG p.D209_W210insS InFrameInsertion 7/12 - 1
3-3139636-G-T c.627C>A p.D209E Missense 7/12 - 1
3-3139640-C-T c.623G>A p.R208H Missense 7/12 - 5
3-3139641-G-A c.622C>T p.R208C Missense 7/12 - 1
3-3139642-C-A c.621G>T p.G207= Synonymous 7/12 - 1
3-3139642-C-G c.621G>C p.G207= Synonymous 7/12 - 1
3-3139642-C-T c.621G>A p.G207= Synonymous 7/12 - 1
3-3139643-C-A c.620G>T p.G207V Missense 7/12 - 1
3-3139649-C-A c.614G>T p.S205I Missense 7/12 - 1
3-3139651-G-A c.612C>T p.L204= Synonymous 7/12 - 4
3-3139654-G-A c.609C>T p.I203= Synonymous 7/12 - 1
3-3139654-G-C c.609C>G p.I203M Missense 7/12 - 1
3-3139655-A-G c.608T>C p.I203T Missense 7/12 - 1
3-3139657-A-G c.606T>C p.F202= Synonymous 7/12 - 1
3-3139660-A-C c.603T>G p.T201= Synonymous 7/12 - 2
3-3139660-A-G c.603T>C p.T201= Synonymous 7/12 - 1
3-3139660-A-T c.603T>A p.T201= Synonymous 7/12 - 1
3-3139661-G-T c.602C>A p.T201N Missense 7/12 - 2
3-3139663-C-T c.600G>A p.R200= Synonymous 7/12 - 2
3-3139665-T-G c.598A>C p.R200= Synonymous 7/12 - 2
3-3139667-G-A c.596C>T p.P199L Missense 7/12 - 1
3-3139668-G-A c.595C>T p.P199S Missense 7/12 - 4
3-3139675-G-T c.588C>A p.C196* Nonsense 7/12 - 1
3-3139677-A-G c.586T>C p.C196R Missense 7/12 - 1
3-3139680-C-G c.583G>C p.A195P Missense 7/12 - 1
3-3139680-C-T c.583G>A p.A195T Missense 7/12 - 3
3-3139681-G-A c.582C>T p.I194= Synonymous 7/12 - 5
3-3139681-G-T c.582C>A p.I194= Synonymous 7/12 - 1
3-3139687-TCT-CCA c.574_576delinsTGG p.R192W Missense 7/12 - 1
3-3139688-C-A c.575G>T p.R192I Missense 7/12 - 1
3-3139688-C-T c.575G>A p.R192K Missense 7/12 - 2
3-3139691-C-T c.572G>A p.G191E Missense 7/12 - 5
3-3139700-T-C c.563A>G p.D188G Missense 7/12 - 2
3-3139701-C-A c.562G>T p.D188Y Missense 7/12 - 1
3-3139702-T-A c.561A>T p.K187N Missense 7/12 - 2
3-3139713-C-A c.550G>T p.E184* Nonsense 7/12 - 2
3-3139714-T-C c.549A>G p.Q183= Synonymous 7/12 - 1
3-3139716-G-A c.547C>T p.Q183* Nonsense 7/12 - 1
3-3139717-G-A c.546C>T p.C182= Synonymous 7/12 - 1
3-3139722-C-A c.541G>T p.E181* Nonsense 7/12 - 1
3-3139723-T-C c.540A>G p.E180= Synonymous 7/12 - 1
3-3139725-C-T c.538G>A p.E180K Missense 7/12 - 4
3-3139727-G-A c.536C>T p.T179I Missense 7/12 - 1
3-3139729-C-T c.534G>A p.W178* Nonsense 7/12 - 2
3-3139731-A-C c.532T>G p.W178G Missense 7/12 - 1
3-3139738-A-C c.525T>G p.Y175* Nonsense 7/12 - 1
3-3139822-T-A c.520A>T p.R174W Missense 6/12 - 2
3-3139822-T-C c.520A>G p.R174G Missense 6/12 - 4
3-3139829-G-A c.513C>T p.L171= Synonymous 6/12 - 2
3-3139829-G-C c.513C>G p.L171= Synonymous 6/12 - 3
3-3139829-G-T c.513C>A p.L171= Synonymous 6/12 - 2
3-3139831-G-A c.511C>T p.L171F Missense 6/12 - 1
3-3139831-G-T c.511C>A p.L171I Missense 6/12 - 7
3-3139839-T-G c.503A>C p.Q168P Missense 6/12 - 1
3-3139847-C-A c.495G>T p.E165D Missense 6/12 - 2
3-3139847-C-G c.495G>C p.E165D Missense 6/12 - 1
3-3139848-T-A c.494A>T p.E165V Missense 6/12 - 1
3-3139849-C-T c.493G>A p.E165K Missense 6/12 - 1
3-3139852-G-A c.490C>T p.P164S Missense 6/12 - 4
3-3139857-T-G c.485A>C p.D162A Missense 6/12 - 1
3-3139858-C-A c.484G>T p.D162Y Missense 6/12 - 1
3-3139863-C-T c.479G>A p.G160D Missense 6/12 - 1
3-3139877-G-T c.465C>A p.C155* Nonsense 6/12 - 1
3-3139881-T-C c.461A>G p.H154R Missense 6/12 - 3
3-3139882-G-A c.460C>T p.H154Y Missense 6/12 - 2
3-3139885-G-A c.457C>T p.L153F Missense 6/12 - 4
3-3139886-G-A c.456C>T p.S152= Synonymous 6/12 - 3
3-3139887-G-A c.455C>T p.S152F Missense 6/12 - 2
3-3139894-G-A c.448C>T p.Q150* Nonsense 6/12 - 3
3-3139898-T-A c.444A>T p.S148= Synonymous 6/12 - 1
3-3139898-T-C c.444A>G p.S148= Synonymous 6/12 - 2
3-3139898-T-G c.444A>C p.S148= Synonymous 6/12 - 1
3-3139899-G-A c.443C>T p.S148L Missense 6/12 - 1
3-3139901-C-T c.441G>A p.R147= Synonymous 6/12 - 5
3-3139903-T-G c.439A>C p.R147= Synonymous 6/12 - 2
3-3139902-C-T c.440G>A p.R147K Missense 6/12 - 4
3-3139907-ACG-TCA c.433_435delinsTGA p.R145* Nonsense 6/12 - 1
3-3139909-G-T c.433C>A p.R145S Missense 6/12 - 1
3-3139910-T-A c.432A>T p.S144= Synonymous 6/12 - 1
3-3139910-T-C c.432A>G p.S144= Synonymous 6/12 - 1
3-3139911-G-A c.431C>T p.S144L Missense 6/12 - 1
3-3139916-A-G c.426T>C p.N142= Synonymous 6/12 - 1
3-3139917-T-C c.425A>G p.N142S Missense 6/12 - 1
3-3139921-C-T c.421G>A p.D141N Missense 6/12 - 2
3-3139924-C-T c.418G>A p.E140K Missense 6/12 - 1
3-3139926-G-T c.416C>A p.T139K Missense 6/12 - 1
3-3139932-T-A c.410A>T p.N137I Missense 6/12 - 2
3-3139935-G-A c.407C>T p.T136I Missense 6/12 - 1
3-3139940-G-T c.402C>A p.C134* Nonsense 6/12 - 1
3-3139942-A-T c.400T>A p.C134S Missense 6/12 - 1
3-3139947-AA-CT c.394_395delinsAG p.L132R Missense 6/12 - 1
3-3139947-A-G c.395T>C p.L132S Missense 6/12 - 2
3-3139948-A-C c.394T>G p.L132V Missense 6/12 - 1
3-3139950-T-C c.392A>G p.N131S Missense 6/12 - 1
3-3139952-C-A c.390G>T p.V130= Synonymous 6/12 - 1
3-3139952-C-G c.390G>C p.V130= Synonymous 6/12 - 1
3-3139952-C-T c.390G>A p.V130= Synonymous 6/12 - 2
3-3139954-C-A c.388G>T p.V130L Missense 6/12 - 1
3-3139955-A-G c.387T>C p.I129= Synonymous 6/12 - 1
3-3139955-A-T c.387T>A p.I129= Synonymous 6/12 - 1
3-3139957-T-C c.385A>G p.I129V Missense 6/12 - 33
3-3139959-GA-CT c.382_383delinsAG p.S128R Missense 6/12 - 1
3-3139960-A-G c.382T>C p.S128P Missense 6/12 - 1
3-3139964-T-A c.378A>T p.G126= Synonymous 6/12 - 1
3-3139964-T-C c.378A>G p.G126= Synonymous 6/12 - 1
3-3139964-T-G c.378A>C p.G126= Synonymous 6/12 - 1
3-3139965-C-A c.377G>T p.G126V Missense 6/12 - 1
3-3139965-C-T c.377G>A p.G126E Missense 6/12 - 1
3-3139969-G-A c.373C>T p.P125S Missense 6/12 - 1
3-3143164-A-C c.367+212T>G - IntronicSNV - 5/11 3
3-3143164-A-T c.367+212T>A - IntronicSNV - 5/11 2
3-3143267-G-C c.367+109C>G - IntronicSNV - 5/11 3
3-3143296-G-A c.367+80C>T - IntronicSNV - 5/11 1
3-3143334-A-T c.367+42T>A - IntronicSNV - 5/11 1
3-3143376-C-A c.367G>T p.G123W Missense 5/12 - 2
3-3143382-G-A c.361C>T p.P121S Missense 5/12 - 1
3-3143384-G-A c.359C>T p.A120V Missense 5/12 - 4
3-3143388-G-A c.355C>T p.H119Y Missense 5/12 - 1
3-3143391-G-T c.352C>A p.L118I Missense 5/12 - 1
3-3143394-C-G c.349G>C p.E117Q Missense 5/12 - 1
3-3143394-C-T c.349G>A p.E117K Missense 5/12 - 5
3-3143397-C-A c.346G>T p.A116S Missense 5/12 - 4
3-3143398-A-C c.345T>G p.S115= Synonymous 5/12 - 1
3-3143398-A-G c.345T>C p.S115= Synonymous 5/12 - 1
3-3143404-C-T c.339G>A p.W113* Nonsense 5/12 - 2
3-3143405-C-T c.338G>A p.W113* Nonsense 5/12 - 1
3-3143415-C-T c.328G>A p.A110T Missense 5/12 - 1
3-3143418-G-C c.325C>G p.L109V Missense 5/12 - 1
3-3143423-G-A c.320C>T p.S107L Missense 5/12 - 3
3-3143425-G-A c.318C>T p.H106= Synonymous 5/12 - 2
3-3143428-G-T c.315C>A p.D105E Missense 5/12 - 1
3-3143430-C-T c.313G>A p.D105N Missense 5/12 - 6
3-3143441-ATGG-A c.299_301del p.T100del InFrameDeletion 5/12 - 1
3-3143443-G-T c.300C>A p.T100= Synonymous 5/12 - 1
3-3143447-C-T c.296G>A p.R99Q Missense 5/12 - 5
3-3143450-A-G c.293T>C p.V98A Missense 5/12 - 1
3-3143453-C-T c.290G>A p.S97N Missense 5/12 - 1
3-3143456-G-A c.287C>T p.A96V Missense 5/12 - 1
3-3143459-G-C c.284C>G p.S95* Nonsense 5/12 - 1
3-3143466-C-A c.277G>T p.G93C Missense 5/12 - 4
3-3143472-G-A c.271C>T p.H91Y Missense 5/12 - 3
3-3143474-A-G c.269T>C p.L90P Missense 5/12 - 1
3-3143476-G-A c.267C>T p.I89= Synonymous 5/12 - 1
3-3143484-C-T c.259G>A p.V87I Missense 5/12 - 1
3-3143486-C-T c.257G>A p.C86Y Missense 5/12 - 1
3-3143488-T-A c.255A>T p.K85N Missense 5/12 - 2
3-3143488-T-G c.255A>C p.K85N Missense 5/12 - 2
3-3143490-T-A c.253A>T p.K85* Nonsense 5/12 - 1
3-3143494-T-G c.249A>C p.E83D Missense 5/12 - 1
3-3143504-C-A c.239G>T p.R80I Missense 5/12 - 1
3-3143506-G-A c.237C>T p.T79= Synonymous 5/12 - 1
3-3143506-G-C c.237C>G p.T79= Synonymous 5/12 - 1
3-3143506-G-T c.237C>A p.T79= Synonymous 5/12 - 1
3-3143510-T-A c.233A>T p.E78V Missense 5/12 - 2
3-3143512-A-G c.231T>C p.Y77= Synonymous 5/12 - 1
3-3144246-T-A c.228+113A>T - IntronicSNV - 4/11 3
3-3144266-A-AT c.228+92dup - IntronicInsertion - 4/11 1
3-3144357-A-G c.228+2T>C - IntronicSNV - 4/11 1
3-3144358-C-A c.228+1G>T - IntronicSNV - 4/11 1
3-3144358-C-G c.228+1G>C - IntronicSNV - 4/11 1
3-3144358-C-T c.228+1G>A - IntronicSNV - 4/11 3
3-3144359-G-A c.228C>T p.D76= Synonymous 4/12 - 4
3-3144362-A-C c.225T>G p.D75E Missense 4/12 - 1
3-3144362-A-T c.225T>A p.D75E Missense 4/12 - 2
3-3144363-T-A c.224A>T p.D75V Missense 4/12 - 1
3-3144372-G-A c.215C>T p.P72L Missense 4/12 - 1
3-3144373-G-C c.214C>G p.P72A Missense 4/12 - 1
3-3144374-A-C c.213T>G p.A71= Synonymous 4/12 - 1
3-3144374-A-G c.213T>C p.A71= Synonymous 4/12 - 1
3-3144374-AG-CT c.212_213inv p.A71E Missense 4/12 - 1
3-3144374-AGC-TTA c.211_213delinsTAA p.A71* Nonsense 4/12 - 1
3-3144374-A-T c.213T>A p.A71= Synonymous 4/12 - 1
3-3144375-G-T c.212C>A p.A71D Missense 4/12 - 1
3-3144376-C-T c.211G>A p.A71T Missense 4/12 - 3
3-3144377-G-A c.210C>T p.N70= Synonymous 4/12 - 5
3-3144386-C-A c.201G>T p.V67= Synonymous 4/12 - 1
3-3144386-C-G c.201G>C p.V67= Synonymous 4/12 - 1
3-3144386-C-T c.201G>A p.V67= Synonymous 4/12 - 1
3-3144387-A-T c.200T>A p.V67E Missense 4/12 - 6
3-3144388-C-T c.199G>A p.V67M Missense 4/12 - 8
3-3144392-A-C c.195T>G p.Y65* Nonsense 4/12 - 3
3-3144392-A-T c.195T>A p.Y65* Nonsense 4/12 - 2
3-3144406-C-T c.181G>A p.V61I Missense 4/12 - 3
3-3144410-C-A c.177G>T p.R59S Missense 4/12 - 1
3-3144410-CCT-ATG c.175_177delinsCAT p.R59H Missense 4/12 - 1
3-3144421-G-C c.166C>G p.Q56E Missense 4/12 - 3
3-3144427-G-A c.160C>T p.P54S Missense 4/12 - 1
3-3144427-G-T c.160C>A p.P54T Missense 4/12 - 2
3-3144437-C-T c.150G>A p.W50* Nonsense 4/12 - 8
3-3144438-C-T c.149G>A p.W50* Nonsense 4/12 - 7
3-3144444-A-G c.143T>C p.L48S Missense 4/12 - 1
3-3144448-G-T c.139C>A p.L47I Missense 4/12 - 5
3-3144462-C-T c.125G>A p.G42D Missense 4/12 - 1
3-3144465-G-A c.122C>T p.T41I Missense 4/12 - 1
3-3144469-C-A c.118G>T p.V40F Missense 4/12 - 1
3-3144470-T-C c.117A>G p.K39= Synonymous 4/12 - 1
3-3144471-T-C c.116A>G p.K39R Missense 4/12 - 1
3-3144473-A-G c.114T>C p.I38= Synonymous 4/12 - 1
3-3144473-A-T c.114T>A p.I38= Synonymous 4/12 - 1
3-3144474-ATGG-A c.110_112del p.T37del InFrameDeletion 4/12 - 1
3-3144477-G-A c.110C>T p.T37I Missense 4/12 - 1
3-3144479-G-T c.108C>A p.F36L Missense 4/12 - 1
3-3144487-C-G c.100G>C p.V34L Missense 4/12 - 1
3-3144489-G-T c.98C>A p.P33H Missense 4/12 - 1
3-3144490-G-A c.97C>T p.P33S Missense 4/12 - 2
3-3144492-G-A c.95C>T p.P32L Missense 4/12 - 1
3-3144493-G-A c.94C>T p.P32S Missense 4/12 - 1
3-3144499-G-T c.88C>A p.L30I Missense 4/12 - 3
3-3144501-G-A c.86C>T p.S29L Missense 4/12 - 1
3-3144504-A-G c.83T>C p.I28T Missense 4/12 - 1
3-3144508-T-C c.83-4A>G - IntronicSNV - 3/11 1
3-3144519-A-G c.83-15T>C - IntronicSNV - 3/11 1
3-3144535-A-G c.83-31T>C - IntronicSNV - 3/11 1
3-3144765-C-T c.83-261G>A - IntronicSNV - 3/11 1
3-3145527-A-G c.83-1023T>C - IntronicSNV - 3/11 1
3-3146327-C-T c.82+260G>A - IntronicSNV - 3/11 1
3-3146581-C-T c.82+6G>A - IntronicSNV - 3/11 1
3-3146580-TC-T c.82+6del - IntronicDeletion - 3/11 1
3-3146588-C-A c.81G>T p.K27N Missense 3/12 - 1
3-3146588-C-G c.81G>C p.K27N Missense 3/12 - 1
3-3146588-C-T c.81G>A p.K27= Synonymous 3/12 - 3
3-3146590-T-G c.79A>C p.K27Q Missense 3/12 - 2
3-3146593-C-T c.76G>A p.E26K Missense 3/12 - 2
3-3146598-G-A c.71C>T p.P24L Missense 3/12 - 2
3-3146606-G-T c.63C>A p.D21E Missense 3/12 - 2
3-3146610-G-A c.59C>T p.A20V Missense 3/12 - 4
3-3146610-GC-CA c.58_59delinsTG p.A20C Missense 3/12 - 1
3-3146610-G-T c.59C>A p.A20D Missense 3/12 - 2
3-3146617-G-T c.52C>A p.L18M Missense 3/12 - 3
3-3146623-C-A c.46G>T p.E16* Nonsense 3/12 - 1
3-3146630-C-T c.39G>A p.G13= Synonymous 3/12 - 1
3-3146632-C-A c.37G>T p.G13W Missense 3/12 - 1
3-3146636-A-C c.33T>G p.L11= Synonymous 3/12 - 1
3-3146636-A-G c.33T>C p.L11= Synonymous 3/12 - 1
3-3146636-A-T c.33T>A p.L11= Synonymous 3/12 - 1
3-3146638-G-A c.31C>T p.L11F Missense 3/12 - 1
3-3146639-G-A c.30C>T p.I10= Synonymous 3/12 - 1
3-3146654-C-A c.15G>T p.A5= Synonymous 3/12 - 1
3-3146654-C-G c.15G>C p.A5= Synonymous 3/12 - 1
3-3146654-C-T c.15G>A p.A5= Synonymous 3/12 - 2
3-3146655-G-A c.14C>T p.A5V Missense 3/12 - 1
3-3146655-GC-TG c.13_14delinsCA p.A5Q Missense 3/12 - 1
3-3146659-C-T c.10G>A p.V4M Missense 3/12 - 1
3-3146660-G-A c.9C>T p.I3= Synonymous 3/12 - 1
3-3146661-A-G c.8T>C p.I3T Missense 3/12 - 1
3-3146666-C-A c.3G>T p.M1? Missense 3/12 - 1
3-3146666-C-G c.3G>C p.M1? Missense 3/12 - 1
3-3146666-C-T c.3G>A p.M1? Missense 3/12 - 1
3-3147676-C-T c.-3-1005G>A - IntronicSNV - 2/11 1
3-3147747-G-A c.-3-1076C>T - IntronicSNV - 2/11 1
3-3147747-G-C c.-3-1076C>G - IntronicSNV - 2/11 1
3-3149369-G-T c.-4+865C>A - intron_variant - 2/11 2
3-3149713-A-C c.-4+521T>G - intron_variant - 2/11 1
3-3149791-A-G c.-4+443T>C - intron_variant - 2/11 1
3-3149791-A-T c.-4+443T>A - intron_variant - 2/11 1
3-3150267-A-G c.-37T>C - 5_prime_UTR_variant 2/12 - 1
3-3151668-G-A c.-185C>T - 5_prime_UTR_variant 1/12 - 3
3-3151759-C-G c.-276G>C - 5_prime_UTR_variant 1/12 - 14
3-3151759-C-T c.-276G>A - 5_prime_UTR_variant 1/12 - 14