RPL3

RPL3 ribosomal protein L3

Annotation transcript: NM_000967.4

492 unique variant annotations were identified in 253 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
22-39708953-C-A c.1204G>T p.G402* Nonsense 10/10 - 1
22-39708965-C-T c.1192G>A p.A398T Missense 10/10 - 4
22-39708972-G-C c.1185C>G p.D395E Missense 10/10 - 2
22-39708972-G-T c.1185C>A p.D395E Missense 10/10 - 1
22-39708974-C-T c.1183G>A p.D395N Missense 10/10 - 1
22-39708978-C-A c.1179G>T p.K393N Missense 10/10 - 1
22-39708978-C-G c.1179G>C p.K393N Missense 10/10 - 1
22-39708979-T-C c.1178A>G p.K393R Missense 10/10 - 1
22-39708981-C-A c.1176G>T p.L392= Synonymous 10/10 - 2
22-39708981-C-G c.1176G>C p.L392= Synonymous 10/10 - 3
22-39708981-C-T c.1176G>A p.L392= Synonymous 10/10 - 3
22-39708983-G-A c.1174C>T p.L392= Synonymous 10/10 - 2
22-39708984-T-A c.1173A>T p.P391= Synonymous 10/10 - 1
22-39708984-T-C c.1173A>G p.P391= Synonymous 10/10 - 1
22-39708984-T-G c.1173A>C p.P391= Synonymous 10/10 - 1
22-39709009-G-A c.1168-20C>T - IntronicSNV - 9/9 10
22-39709195-C-T c.1167+1G>A - IntronicSNV - 9/9 1
22-39709203-G-A c.1160C>T p.A387V Missense 9/10 - 1
22-39709208-C-T c.1155G>A p.K385= Synonymous 9/10 - 1
22-39709209-T-G c.1154A>C p.K385T Missense 9/10 - 1
22-39709215-T-C c.1148A>G p.E383G Missense 9/10 - 3
22-39709221-G-A c.1142C>T p.T381I Missense 9/10 - 1
22-39709223-C-T c.1140G>A p.Q380= Synonymous 9/10 - 1
22-39709225-G-C c.1138C>G p.Q380E Missense 9/10 - 1
22-39709234-C-A c.1129G>T p.G377C Missense 9/10 - 1
22-39709237-G-A c.1126C>T p.H376Y Missense 9/10 - 2
22-39709237-G-T c.1126C>A p.H376N Missense 9/10 - 1
22-39709244-C-T c.1119G>A p.K373= Synonymous 9/10 - 1
22-39709250-G-A c.1113C>T p.T371= Synonymous 9/10 - 2
22-39709256-G-A c.1107C>T p.D369= Synonymous 9/10 - 1
22-39709258-C-T c.1105G>A p.D369N Missense 9/10 - 1
22-39709261-T-C c.1102A>G p.I368V Missense 9/10 - 1
22-39709262-G-A c.1101C>T p.F367= Synonymous 9/10 - 1
22-39709264-A-T c.1099T>A p.F367I Missense 9/10 - 1
22-39709273-C-G c.1090G>C p.D364H Missense 9/10 - 1
22-39709277-C-A c.1086G>T p.K362N Missense 9/10 - 1
22-39709277-C-G c.1086G>C p.K362N Missense 9/10 - 1
22-39709282-C-T c.1081G>A p.E361K Missense 9/10 - 2
22-39709283-C-A c.1080G>T p.L360= Synonymous 9/10 - 1
22-39709283-C-G c.1080G>C p.L360= Synonymous 9/10 - 1
22-39709283-C-T c.1080G>A p.L360= Synonymous 9/10 - 1
22-39709285-G-A c.1078C>T p.L360= Synonymous 9/10 - 1
22-39709285-G-C c.1078C>G p.L360V Missense 9/10 - 1
22-39709288-C-A c.1075G>T p.A359S Missense 9/10 - 2
22-39709288-C-T c.1075G>A p.A359T Missense 9/10 - 1
22-39709289-CC-AT c.1073_1074delinsAT p.R358H Missense 9/10 - 1
22-39709289-C-T c.1074G>A p.R358= Synonymous 9/10 - 1
22-39709291-G-A c.1072C>T p.R358W Missense 9/10 - 1
22-39709291-G-C c.1072C>G p.R358G Missense 9/10 - 1
22-39709294-G-A c.1069C>T p.R357W Missense 9/10 - 1
22-39709298-C-T c.1065G>A p.T355= Synonymous 9/10 - 2
22-39709299-G-A c.1064C>T p.T355M Missense 9/10 - 1
22-39709304-C-A c.1059G>T p.V353= Synonymous 9/10 - 1
22-39709304-C-G c.1059G>C p.V353= Synonymous 9/10 - 1
22-39709304-C-T c.1059G>A p.V353= Synonymous 9/10 - 1
22-39709567-GCCA-G c.1047+69_1047+71del - IntronicDeletion - 8/9 1
22-39709605-G-A c.1047+34C>T - IntronicSNV - 8/9 2
22-39709640-T-G c.1046A>C p.K349T Missense 8/10 - 1
22-39709643-C-T c.1043G>A p.R348H Missense 8/10 - 1
22-39709643-C-CGAGAG c.1042_1043insCTCTC p.R348Pfs*47 Frameshift 8/10 - 1
22-39709644-G-A c.1042C>T p.R348C Missense 8/10 - 4
22-39709644-G-C c.1042C>G p.R348G Missense 8/10 - 1
22-39709647-G-A c.1039C>T p.L347F Missense 8/10 - 1
22-39709650-T-C c.1036A>G p.T346A Missense 8/10 - 1
22-39709658-C-A c.1028G>T p.R343L Missense 8/10 - 1
22-39709659-G-A c.1027C>T p.R343W Missense 8/10 - 1
22-39709669-T-A c.1017A>T p.G339= Synonymous 8/10 - 2
22-39709673-A-G c.1013T>C p.V338A Missense 8/10 - 2
22-39709679-C-G c.1007G>C p.C336S Missense 8/10 - 1
22-39709680-A-T c.1006T>A p.C336S Missense 8/10 - 1
22-39709687-C-A c.999G>T p.L333= Synonymous 8/10 - 1
22-39709687-C-G c.999G>C p.L333= Synonymous 8/10 - 1
22-39709687-C-T c.999G>A p.L333= Synonymous 8/10 - 2
22-39709689-G-A c.997C>T p.L333= Synonymous 8/10 - 1
22-39709696-A-C c.990T>G p.F330L Missense 8/10 - 1
22-39709696-A-T c.990T>A p.F330L Missense 8/10 - 1
22-39709698-A-G c.988T>C p.F330L Missense 8/10 - 1
22-39709706-G-C c.980C>G p.T327S Missense 8/10 - 1
22-39709713-C-T c.973G>A p.E325K Missense 8/10 - 2
22-39709716-C-G c.970G>C p.G324R Missense 8/10 - 1
22-39709721-T-G c.965A>C p.H322P Missense 8/10 - 1
22-39709722-G-A c.964C>T p.H322Y Missense 8/10 - 1
22-39709722-G-T c.964C>A p.H322N Missense 8/10 - 1
22-39709724-A-G c.962T>C p.V321A Missense 8/10 - 1
22-39709724-A-T c.962T>A p.V321D Missense 8/10 - 3
22-39709776-T-C c.952-42A>G - IntronicSNV - 7/9 4
22-39709836-A-G c.952-102T>C - IntronicSNV - 7/9 1
22-39709891-C-T c.952-157G>A - IntronicSNV - 7/9 1
22-39709988-G-A c.951+124C>T - IntronicSNV - 7/9 1
22-39710004-T-C c.951+108A>G - IntronicSNV - 7/9 1
22-39710062-A-G c.951+50T>C - IntronicSNV - 7/9 1
22-39710118-G-A c.945C>T p.N315= Synonymous 7/10 - 2
22-39710118-G-T c.945C>A p.N315K Missense 7/10 - 1
22-39710128-T-C c.935A>G p.K312R Missense 7/10 - 1
22-39710137-A-C c.926T>G p.L309R Missense 7/10 - 1
22-39710141-C-T c.922G>A p.D308N Missense 7/10 - 2
22-39710145-G-A c.918C>T p.D306= Synonymous 7/10 - 1
22-39710147-C-T c.916G>A p.D306N Missense 7/10 - 2
22-39710163-C-T c.900G>A p.K300= Synonymous 7/10 - 1
22-39710176-C-T c.887G>A p.G296D Missense 7/10 - 1
22-39710181-C-T c.882G>A p.K294= Synonymous 7/10 - 1
22-39710185-A-G c.878T>C p.I293T Missense 7/10 - 2
22-39710186-T-A c.877A>T p.I293F Missense 7/10 - 4
22-39710189-G-A c.874C>T p.L292F Missense 7/10 - 1
22-39710190-G-A c.873C>T p.Y291= Synonymous 7/10 - 1
22-39710191-T-C c.872A>G p.Y291C Missense 7/10 - 2
22-39710194-C-T c.869G>A p.G290D Missense 7/10 - 1
22-39710197-T-A c.866A>T p.Q289L Missense 7/10 - 1
22-39710203-A-C c.860T>G p.I287S Missense 7/10 - 1
22-39710205-C-T c.858G>A p.K286= Synonymous 7/10 - 2
22-39710209-T-G c.854A>C p.Y285S Missense 7/10 - 1
22-39710211-A-G c.852T>C p.I284= Synonymous 7/10 - 4
22-39710211-A-T c.852T>A p.I284= Synonymous 7/10 - 1
22-39710244-G-A c.850-31C>T - IntronicSNV - 6/9 4
22-39710244-G-C c.850-31C>G - IntronicSNV - 6/9 4
22-39710269-T-C c.850-56A>G - IntronicSNV - 6/9 2
22-39710284-C-CTT c.850-72_850-71insAA - IntronicInsertion - 6/9 2
22-39710439-C-A c.850-226G>T - IntronicSNV - 6/9 1
22-39710439-C-G c.850-226G>C - IntronicSNV - 6/9 1
22-39710664-C-T c.849+27G>A - IntronicSNV - 6/9 1
22-39710698-T-C c.842A>G p.N281S Missense 6/10 - 1
22-39710710-C-T c.830G>A p.R277H Missense 6/10 - 1
22-39710713-T-C c.827A>G p.H276R Missense 6/10 - 1
22-39710719-T-C c.821A>G p.Y274C Missense 6/10 - 2
22-39710720-A-G c.820T>C p.Y274H Missense 6/10 - 1
22-39710721-G-A c.819C>T p.G273= Synonymous 6/10 - 1
22-39710721-G-C c.819C>G p.G273= Synonymous 6/10 - 1
22-39710721-G-T c.819C>A p.G273= Synonymous 6/10 - 1
22-39710724-T-C c.816A>G p.K272= Synonymous 6/10 - 1
22-39710727-C-T c.813G>A p.Q271= Synonymous 6/10 - 2
22-39710729-G-A c.811C>T p.Q271* Nonsense 6/10 - 1
22-39710734-G-A c.806C>T p.A269V Missense 6/10 - 1
22-39710734-G-C c.806C>G p.A269G Missense 6/10 - 1
22-39710735-C-A c.805G>T p.A269S Missense 6/10 - 4
22-39710735-C-T c.805G>A p.A269T Missense 6/10 - 1
22-39710737-C-A c.803G>T p.R268L Missense 6/10 - 1
22-39710737-C-T c.803G>A p.R268H Missense 6/10 - 1
22-39710738-G-C c.802C>G p.R268G Missense 6/10 - 1
22-39710741-C-A c.799G>T p.A267S Missense 6/10 - 1
22-39710741-CCA-C c.797_798del p.V266Gfs*13 Frameshift 6/10 - 1
22-39710746-G-T c.794C>A p.S265Y Missense 6/10 - 1
22-39710755-A-G c.785T>C p.V262A Missense 6/10 - 1
22-39710756-C-A c.784G>T p.V262L Missense 6/10 - 1
22-39710756-C-T c.784G>A p.V262I Missense 6/10 - 1
22-39710757-A-C c.783T>G p.R261= Synonymous 6/10 - 1
22-39710757-AC-TT c.782_783delinsAA p.R261Q Missense 6/10 - 1
22-39710757-A-G c.783T>C p.R261= Synonymous 6/10 - 1
22-39710757-A-T c.783T>A p.R261= Synonymous 6/10 - 1
22-39710758-C-G c.782G>C p.R261P Missense 6/10 - 1
22-39710758-C-T c.782G>A p.R261H Missense 6/10 - 2
22-39710761-G-A c.779C>T p.A260V Missense 6/10 - 1
22-39710765-G-A c.775C>T p.P259S Missense 6/10 - 1
22-39710765-G-GA c.774dup p.P259Sfs*21 Frameshift 6/10 - 1
22-39710766-A-C c.774T>G p.H258Q Missense 6/10 - 1
22-39710766-A-G c.774T>C p.H258= Synonymous 6/10 - 1
22-39710766-A-T c.774T>A p.H258Q Missense 6/10 - 1
22-39710773-G-T c.767C>A p.A256E Missense 6/10 - 1
22-39710785-G-A c.755C>T p.A252V Missense 6/10 - 1
22-39710785-G-C c.755C>G p.A252G Missense 6/10 - 1
22-39710794-C-T c.746G>A p.R249H Missense 6/10 - 1
22-39710795-G-A c.745C>T p.R249C Missense 6/10 - 2
22-39710796-C-A c.744G>T p.L248= Synonymous 6/10 - 1
22-39710796-C-G c.744G>C p.L248= Synonymous 6/10 - 1
22-39710796-C-T c.744G>A p.L248= Synonymous 6/10 - 1
22-39710798-G-A c.742C>T p.L248= Synonymous 6/10 - 1
22-39710803-CG-GC c.736_737delinsGC p.R246A Missense 6/10 - 1
22-39710806-T-C c.734A>G p.H245R Missense 6/10 - 1
22-39710806-TG-GC c.733_734delinsGC p.H245A Missense 6/10 - 1
22-39710808-G-A c.732C>T p.T244= Synonymous 6/10 - 1
22-39710815-C-G c.725G>C p.R242P Missense 6/10 - 1
22-39710815-C-T c.725G>A p.R242H Missense 6/10 - 2
22-39710820-C-A c.720G>T p.L240= Synonymous 6/10 - 1
22-39710820-C-G c.720G>C p.L240= Synonymous 6/10 - 1
22-39710820-C-T c.720G>A p.L240= Synonymous 6/10 - 1
22-39710822-G-A c.718C>T p.L240= Synonymous 6/10 - 1
22-39710823-C-A c.717G>T p.K239N Missense 6/10 - 1
22-39710823-C-G c.717G>C p.K239N Missense 6/10 - 1
22-39710824-TT-AG c.715_716delinsCT p.K239L Missense 6/10 - 1
22-39710851-C-A c.689G>T p.G230V Missense 6/10 - 1
22-39711020-G-C c.689-169C>G - IntronicSNV - 5/9 1
22-39711272-G-A c.688+102C>T - IntronicSNV - 5/9 1
22-39711272-G-C c.688+102C>G - IntronicSNV - 5/9 1
22-39711351-A-G c.688+23T>C - IntronicSNV - 5/9 11
22-39711385-T-A c.677A>T p.K226I Missense 5/10 - 1
22-39711389-C-T c.673G>A p.G225S Missense 5/10 - 1
22-39711393-G-A c.669C>T p.T223= Synonymous 5/10 - 1
22-39711393-G-C c.669C>G p.T223= Synonymous 5/10 - 1
22-39711393-G-T c.669C>A p.T223= Synonymous 5/10 - 1
22-39711401-C-G c.661G>C p.G221R Missense 5/10 - 1
22-39711401-C-T c.661G>A p.G221R Missense 5/10 - 1
22-39711402-G-A c.660C>T p.I220= Synonymous 5/10 - 4
22-39711402-G-T c.660C>A p.I220= Synonymous 5/10 - 2
22-39711407-C-T c.655G>A p.V219I Missense 5/10 - 1
22-39711408-G-A c.654C>T p.D218= Synonymous 5/10 - 2
22-39711411-G-A c.651C>T p.I217= Synonymous 5/10 - 1
22-39711411-G-T c.651C>A p.I217= Synonymous 5/10 - 1
22-39711413-T-A c.649A>T p.I217F Missense 5/10 - 1
22-39711436-T-C c.626A>G p.Q209R Missense 5/10 - 1
22-39711441-C-T c.621G>A p.V207= Synonymous 5/10 - 1
22-39711443-C-T c.619G>A p.V207M Missense 5/10 - 1
22-39711444-A-C c.618T>G p.P206= Synonymous 5/10 - 1
22-39711444-A-G c.618T>C p.P206= Synonymous 5/10 - 1
22-39711444-A-T c.618T>A p.P206= Synonymous 5/10 - 2
22-39711448-A-G c.614T>C p.V205A Missense 5/10 - 2
22-39711453-C-T c.609G>A p.Q203= Synonymous 5/10 - 2
22-39711458-C-T c.604G>A p.E202K Missense 5/10 - 1
22-39711463-CT-TG c.598_599delinsCA p.R200Q Missense 5/10 - 1
22-39711468-G-A c.594C>T p.R198= Synonymous 5/10 - 2
22-39711468-G-C c.594C>G p.R198= Synonymous 5/10 - 3
22-39711468-G-T c.594C>A p.R198= Synonymous 5/10 - 1
22-39711477-G-A c.585C>T p.D195= Synonymous 5/10 - 2
22-39711479-C-G c.583G>C p.D195H Missense 5/10 - 1
22-39711487-T-C c.575A>G p.E192G Missense 5/10 - 1
22-39711489-G-A c.573C>T p.A191= Synonymous 5/10 - 1
22-39711489-G-C c.573C>G p.A191= Synonymous 5/10 - 1
22-39711489-G-T c.573C>A p.A191= Synonymous 5/10 - 1
22-39711490-G-A c.572C>T p.A191V Missense 5/10 - 1
22-39711490-G-T c.572C>A p.A191D Missense 5/10 - 3
22-39711492-C-A c.570G>T p.V190= Synonymous 5/10 - 2
22-39711492-C-G c.570G>C p.V190= Synonymous 5/10 - 1
22-39711492-C-T c.570G>A p.V190= Synonymous 5/10 - 1
22-39711495-A-G c.567T>C p.T189= Synonymous 5/10 - 1
22-39711495-AG-CA c.566_567delinsTG p.T189M Missense 5/10 - 1
22-39711500-C-G c.562G>C p.G188R Missense 5/10 - 1
22-39711502-C-T c.560G>A p.G187E Missense 5/10 - 3
22-39711503-C-T c.559G>A p.G187R Missense 5/10 - 1
22-39711506-T-C c.556A>G p.N186D Missense 5/10 - 1
22-39711518-C-T c.544G>A p.E182K Missense 5/10 - 1
22-39711522-C-A c.540G>T p.L180= Synonymous 5/10 - 2
22-39711522-C-G c.540G>C p.L180= Synonymous 5/10 - 3
22-39711522-C-T c.540G>A p.L180= Synonymous 5/10 - 2
22-39711524-G-A c.538C>T p.L180= Synonymous 5/10 - 2
22-39711523-A-G c.539T>C p.L180P Missense 5/10 - 1
22-39711524-G-T c.538C>A p.L180M Missense 5/10 - 1
22-39711531-C-T c.531G>A p.K177= Synonymous 5/10 - 1
22-39711539-G-A c.523C>T p.Q175* Nonsense 5/10 - 1
22-39711540-G-A c.522C>T p.R174= Synonymous 5/10 - 2
22-39711540-G-C c.522C>G p.R174= Synonymous 5/10 - 2
22-39711540-G-T c.522C>A p.R174= Synonymous 5/10 - 2
22-39711541-C-T c.521G>A p.R174H Missense 5/10 - 1
22-39711542-G-A c.520C>T p.R174C Missense 5/10 - 2
22-39711542-G-T c.520C>A p.R174S Missense 5/10 - 1
22-39711547-G-A c.515C>T p.P172L Missense 5/10 - 1
22-39711547-G-C c.515C>G p.P172R Missense 5/10 - 1
22-39711548-G-T c.514C>A p.P172T Missense 5/10 - 4
22-39711549-AAG-CCA c.511_513delinsTGG p.L171W Missense 5/10 - 1
22-39711550-A-G c.512T>C p.L171P Missense 5/10 - 1
22-39711556-C-T c.506G>A p.R169H Missense 5/10 - 2
22-39711557-G-A c.505C>T p.R169C Missense 5/10 - 2
22-39711558-C-A c.504G>T p.M168I Missense 5/10 - 1
22-39711558-C-G c.504G>C p.M168I Missense 5/10 - 1
22-39711558-C-T c.504G>A p.M168I Missense 5/10 - 1
22-39711659-G-A c.502-99C>T - IntronicSNV - 4/9 1
22-39712011-G-A c.502-451C>T - IntronicSNV - 4/9 1
22-39712011-G-T c.502-451C>A - IntronicSNV - 4/9 1
22-39712314-T-C c.501+397A>G - IntronicSNV - 4/9 1
22-39712334-T-C c.501+377A>G - IntronicSNV - 4/9 2
22-39712368-C-T c.501+343G>A - IntronicSNV - 4/9 2
22-39712394-T-C c.501+317A>G - IntronicSNV - 4/9 2
22-39712711-C-T c.501G>A p.Q167= Synonymous 4/10 - 1
22-39712713-G-A c.499C>T p.Q167* Nonsense 4/10 - 1
22-39712713-G-C c.499C>G p.Q167E Missense 4/10 - 1
22-39712721-G-A c.491C>T p.A164V Missense 4/10 - 1
22-39712723-A-G c.489T>C p.I163= Synonymous 4/10 - 1
22-39712723-A-T c.489T>A p.I163= Synonymous 4/10 - 1
22-39712725-T-C c.487A>G p.I163V Missense 4/10 - 1
22-39712729-ACG-CCA c.481_483delinsTGG p.R161W Missense 4/10 - 1
22-39712730-C-T c.482G>A p.R161H Missense 4/10 - 3
22-39712741-G-A c.471C>T p.C157= Synonymous 4/10 - 2
22-39712756-G-A c.456C>T p.S152= Synonymous 4/10 - 1
22-39712765-G-T c.447C>A p.D149E Missense 4/10 - 1
22-39712770-T-C c.442A>G p.K148E Missense 4/10 - 2
22-39712780-C-A c.432G>T p.K144N Missense 4/10 - 1
22-39712780-C-G c.432G>C p.K144N Missense 4/10 - 1
22-39712780-C-T c.432G>A p.K144= Synonymous 4/10 - 3
22-39712782-T-C c.430A>G p.K144E Missense 4/10 - 1
22-39712783-C-A c.429G>T p.K143N Missense 4/10 - 2
22-39712783-C-G c.429G>C p.K143N Missense 4/10 - 3
22-39712783-C-T c.429G>A p.K143= Synonymous 4/10 - 1
22-39712788-C-T c.424G>A p.G142S Missense 4/10 - 1
22-39712804-T-A c.408A>T p.K136N Missense 4/10 - 1
22-39712804-T-C c.408A>G p.K136= Synonymous 4/10 - 1
22-39712804-T-G c.408A>C p.K136N Missense 4/10 - 1
22-39712805-T-G c.407A>C p.K136T Missense 4/10 - 3
22-39712807-C-A c.405G>T p.K135N Missense 4/10 - 3
22-39712807-C-G c.405G>C p.K135N Missense 4/10 - 1
22-39712810-G-A c.402C>T p.C134= Synonymous 4/10 - 1
22-39712817-T-C c.395A>G p.K132R Missense 4/10 - 1
22-39712820-G-A c.392C>T p.T131I Missense 4/10 - 1
22-39712826-G-A c.386C>T p.A129V Missense 4/10 - 1
22-39712827-C-G c.385G>C p.A129P Missense 4/10 - 1
22-39712827-C-T c.385G>A p.A129T Missense 4/10 - 1
22-39712833-T-C c.379A>G p.K127E Missense 4/10 - 1
22-39712833-T-G c.379A>C p.K127Q Missense 4/10 - 1
22-39712827-CCTT-C c.382_384del p.K128del InFrameDeletion 4/10 - 2
22-39712834-C-A c.378G>T p.K126N Missense 4/10 - 1
22-39712834-C-G c.378G>C p.K126N Missense 4/10 - 1
22-39712835-T-C c.377A>G p.K126R Missense 4/10 - 1
22-39712841-T-C c.371A>G p.K124R Missense 4/10 - 1
22-39712841-T-G c.371A>C p.K124T Missense 4/10 - 4
22-39712904-C-G c.366-58G>C - IntronicSNV - 3/9 1
22-39712904-C-T c.366-58G>A - IntronicSNV - 3/9 1
22-39712912-G-A c.366-66C>T - IntronicSNV - 3/9 2
22-39712912-G-T c.366-66C>A - IntronicSNV - 3/9 2
22-39712916-G-A c.366-70C>T - IntronicSNV - 3/9 1
22-39712916-G-C c.366-70C>G - IntronicSNV - 3/9 1
22-39712936-G-A c.366-90C>T - IntronicSNV - 3/9 6
22-39712981-A-G c.366-135T>C - IntronicSNV - 3/9 10
22-39712988-G-A c.366-142C>T - IntronicSNV - 3/9 1
22-39712988-G-T c.366-142C>A - IntronicSNV - 3/9 1
22-39713062-C-G c.366-216G>C - IntronicSNV - 3/9 1
22-39713062-C-T c.366-216G>A - IntronicSNV - 3/9 1
22-39713105-C-T c.366-259G>A - IntronicSNV - 3/9 6
22-39713113-G-GCA c.366-268_366-267insTG - IntronicInsertion - 3/9 1
22-39713128-A-C c.366-282T>G - IntronicSNV - 3/9 8
22-39713128-A-G c.366-282T>C - IntronicSNV - 3/9 8
22-39713338-G-C c.365+128C>G - IntronicSNV - 3/9 1
22-39713467-A-C c.364T>G p.W122G Missense 3/10 - 1
22-39713470-T-C c.361A>G p.N121D Missense 3/10 - 1
22-39713471-C-A c.360G>T p.K120N Missense 3/10 - 1
22-39713471-C-G c.360G>C p.K120N Missense 3/10 - 1
22-39713471-C-T c.360G>A p.K120= Synonymous 3/10 - 1
22-39713475-T-C c.356A>G p.Y119C Missense 3/10 - 1
22-39713477-G-A c.354C>T p.F118= Synonymous 3/10 - 1
22-39713481-C-T c.350G>A p.R117H Missense 3/10 - 1
22-39713483-CCT-ACA c.346_348delinsTGT p.R116C Missense 3/10 - 2
22-39713483-C-T c.348G>A p.R116= Synonymous 3/10 - 1
22-39713484-C-A c.347G>T p.R116M Missense 3/10 - 1
22-39713489-G-A c.342C>T p.C114= Synonymous 3/10 - 1
22-39713489-G-C c.342C>G p.C114W Missense 3/10 - 1
22-39713499-CT-TA c.331_332delinsTA p.S111Y Missense 3/10 - 1
22-39713501-G-A c.330C>T p.I110= Synonymous 3/10 - 2
22-39713501-G-C c.330C>G p.I110M Missense 3/10 - 1
22-39713504-G-A c.327C>T p.H109= Synonymous 3/10 - 1
22-39713506-G-A c.325C>T p.H109Y Missense 3/10 - 1
22-39713507-C-T c.324G>A p.E108= Synonymous 3/10 - 1
22-39713510-A-G c.321T>C p.A107= Synonymous 3/10 - 1
22-39713512-C-T c.319G>A p.A107T Missense 3/10 - 1
22-39713513-A-G c.318T>C p.F106= Synonymous 3/10 - 1
22-39713520-G-A c.311C>T p.T104I Missense 3/10 - 2
22-39713525-G-A c.306C>T p.F102= Synonymous 3/10 - 5
22-39713532-C-A c.299G>T p.R100L Missense 3/10 - 1
22-39713532-C-T c.299G>A p.R100Q Missense 3/10 - 1
22-39713536-G-A c.295C>T p.L99F Missense 3/10 - 1
22-39713539-C-T c.292G>A p.G98S Missense 3/10 - 1
22-39713540-T-A c.291A>T p.R97= Synonymous 3/10 - 2
22-39713541-C-G c.290G>C p.R97P Missense 3/10 - 1
22-39713544-G-A c.287C>T p.P96L Missense 3/10 - 2
22-39713546-G-A c.285C>T p.T95= Synonymous 3/10 - 2
22-39713550-T-A c.281A>T p.E94V Missense 3/10 - 1
22-39713551-C-T c.280G>A p.E94K Missense 3/10 - 1
22-39713562-A-G c.269T>C p.V90A Missense 3/10 - 1
22-39713574-A-G c.257T>C p.V86A Missense 3/10 - 1
22-39713580-A-G c.251T>C p.M84T Missense 3/10 - 1
22-39713582-G-C c.249C>G p.P83= Synonymous 3/10 - 1
22-39713583-G-T c.248C>A p.P83H Missense 3/10 - 1
22-39713586-G-A c.245C>T p.P82L Missense 3/10 - 1
22-39713587-G-C c.244C>G p.P82A Missense 3/10 - 1
22-39713589-G-A c.242C>T p.T81I Missense 3/10 - 3
22-39713590-T-C c.241A>G p.T81A Missense 3/10 - 1
22-39713593-C-G c.238G>C p.E80Q Missense 3/10 - 1
22-39713598-A-G c.233T>C p.I78T Missense 3/10 - 1
22-39713599-T-C c.232A>G p.I78V Missense 3/10 - 1
22-39713603-CAC-GAT c.226_228delinsATC p.V76I Missense 3/10 - 1
22-39713607-G-A c.224C>T p.A75V Missense 3/10 - 1
22-39713607-GC-TG c.223_224delinsCA p.A75H Missense 3/10 - 1
22-39713608-C-T c.223G>A p.A75T Missense 3/10 - 1
22-39713609-C-A c.222G>T p.E74D Missense 3/10 - 1
22-39713609-C-G c.222G>C p.E74D Missense 3/10 - 1
22-39713611-C-A c.220G>T p.E74* Nonsense 3/10 - 1
22-39713613-A-T c.218T>A p.V73E Missense 3/10 - 1
22-39713614-C-T c.217G>A p.V73M Missense 3/10 - 1
22-39713623-T-C c.208A>G p.K70E Missense 3/10 - 1
22-39713624-C-A c.207G>T p.K69N Missense 3/10 - 2
22-39713624-C-G c.207G>C p.K69N Missense 3/10 - 2
22-39713624-C-T c.207G>A p.K69= Synonymous 3/10 - 1
22-39713627-G-A c.204C>T p.N68= Synonymous 3/10 - 1
22-39713628-T-A c.203A>T p.N68I Missense 3/10 - 1
22-39713631-CACCT-C c.197_200del p.K66Rfs*10 SpliceAcceptorDeletion 3/10 - 1
22-39713632-C-A c.199G>T p.V67L Missense 3/10 - 1
22-39713632-C-T c.199G>A p.V67M Missense 3/10 - 1
22-39714121-C-CA c.196+283dup - IntronicInsertion - 2/9 1
22-39714216-A-G c.196+189T>C - IntronicSNV - 2/9 6
22-39714216-A-T c.196+189T>A - IntronicSNV - 2/9 5
22-39714303-TA-T c.196+101del - IntronicDeletion - 2/9 3
22-39714394-T-C c.196+11A>G - IntronicSNV - 2/9 1
22-39714405-T-C c.196A>G p.K66E Missense 2/10 - 1
22-39714407-G-T c.194C>A p.S65Y Missense 2/10 - 1
22-39714408-A-G c.193T>C p.S65P Missense 2/10 - 1
22-39714410-C-T c.191G>A p.G64E Missense 2/10 - 2
22-39714411-C-T c.190G>A p.G64R Missense 2/10 - 1
22-39714413-G-A c.188C>T p.P63L Missense 2/10 - 2
22-39714412-C-CG c.188dup p.S65Ifs*44 Frameshift 2/10 - 1
22-39714415-C-G c.186G>C p.R62S Missense 2/10 - 1
22-39714419-T-TG c.181_182insC p.D61Afs*48 Frameshift 2/10 - 1
22-39714420-C-T c.181G>A p.D61N Missense 2/10 - 1
22-39714423-C-CA c.177_178insT p.V60Cfs*49 Frameshift 2/10 - 1
22-39714426-C-T c.175G>A p.E59K Missense 2/10 - 2
22-39714436-G-C c.165C>G p.H55Q Missense 2/10 - 1
22-39714436-G-T c.165C>A p.H55Q Missense 2/10 - 1
22-39714440-G-C c.161C>G p.T54S Missense 2/10 - 1
22-39714441-T-C c.160A>G p.T54A Missense 2/10 - 1
22-39714446-C-T c.155G>A p.G52D Missense 2/10 - 1
22-39714449-G-A c.152C>T p.A51V Missense 2/10 - 3
22-39714449-G-C c.152C>G p.A51G Missense 2/10 - 1
22-39714450-C-T c.151G>A p.A51T Missense 2/10 - 1
22-39714454-G-A c.147C>T p.Y49= Synonymous 2/10 - 1
22-39714455-T-A c.146A>T p.Y49F Missense 2/10 - 1
22-39714455-T-C c.146A>G p.Y49C Missense 2/10 - 1
22-39714456-A-G c.145T>C p.Y49H Missense 2/10 - 1
22-39714459-C-T c.142G>A p.G48R Missense 2/10 - 1
22-39714463-G-A c.138C>T p.F46= Synonymous 2/10 - 2
22-39714468-C-T c.133G>A p.A45T Missense 2/10 - 1
22-39714471-T-C c.130A>G p.T44A Missense 2/10 - 1
22-39714478-G-C c.123C>G p.V41= Synonymous 2/10 - 1
22-39714482-G-A c.119C>T p.P40L Missense 2/10 - 1
22-39714483-G-A c.118C>T p.P40S Missense 2/10 - 1
22-39714484-C-A c.117G>T p.K39N Missense 2/10 - 1
22-39714484-C-G c.117G>C p.K39N Missense 2/10 - 1
22-39714486-T-C c.115A>G p.K39E Missense 2/10 - 2
22-39714487-G-T c.114C>A p.S38= Synonymous 2/10 - 2
22-39714490-C-A c.111G>T p.P37= Synonymous 2/10 - 2
22-39714490-C-G c.111G>C p.P37= Synonymous 2/10 - 2
22-39714490-C-T c.111G>A p.P37= Synonymous 2/10 - 14
22-39714491-G-A c.110C>T p.P37L Missense 2/10 - 1
22-39714491-G-C c.110C>G p.P37R Missense 2/10 - 1
22-39714492-G-A c.109C>T p.P37S Missense 2/10 - 1
22-39714499-C-T c.102G>A p.K34= Synonymous 2/10 - 1
22-39714501-T-C c.100A>G p.K34E Missense 2/10 - 1
22-39714504-G-C c.97C>G p.P33A Missense 2/10 - 2
22-39714511-C-G c.90G>C p.K30N Missense 2/10 - 1
22-39714513-T-C c.88A>G p.K30E Missense 2/10 - 1
22-39714514-C-T c.87G>A p.V29= Synonymous 2/10 - 1
22-39714517-C-T c.84G>A p.K28= Synonymous 2/10 - 1
22-39714520-CCC-GTT c.79_81delinsAAC p.G27N Missense 2/10 - 1
22-39714521-C-T c.80G>A p.G27E Missense 2/10 - 1
22-39714525-G-A c.76C>T p.R26C Missense 2/10 - 1
22-39714531-CT-C c.70del p.R24Gfs*6 Frameshift 2/10 - 1
22-39714531-T-C c.70A>G p.R24G Missense 2/10 - 1
22-39714539-C-G c.62G>C p.R21P Missense 2/10 - 1
22-39714539-C-T c.62G>A p.R21H Missense 2/10 - 1
22-39714540-G-A c.61C>T p.R21C Missense 2/10 - 2
22-39714545-CG-TT c.55_56delinsAA p.R19K Missense 2/10 - 1
22-39714546-G-A c.55C>T p.R19W Missense 2/10 - 1
22-39714546-G-C c.55C>G p.R19G Missense 2/10 - 2
22-39714549-G-A c.52C>T p.P18S Missense 2/10 - 1
22-39714551-AG-GA c.49_50delinsTC p.L17S Missense 2/10 - 1
22-39714555-A-T c.46T>A p.F16I Missense 2/10 - 1
22-39714558-C-A c.43G>T p.G15C Missense 2/10 - 1
22-39714564-A-C c.37T>G p.S13A Missense 2/10 - 2
22-39714566-CC-TT c.34_35delinsAA p.G12K Missense 2/10 - 2
22-39714567-C-T c.34G>A p.G12R Missense 2/10 - 1
22-39714569-T-C c.32A>G p.H11R Missense 2/10 - 5
22-39714570-G-T c.31C>A p.H11N Missense 2/10 - 1
22-39714571-T-C c.30A>G p.R10= Synonymous 2/10 - 1
22-39714573-T-G c.28A>C p.R10= Synonymous 2/10 - 1
22-39714576-G-A c.25C>T p.P9S Missense 2/10 - 1
22-39714579-C-T c.22G>A p.A8T Missense 2/10 - 1
22-39714580-G-A c.21C>T p.S7= Synonymous 2/10 - 8
22-39714580-G-C c.21C>G p.S7= Synonymous 2/10 - 1
22-39714580-G-T c.21C>A p.S7= Synonymous 2/10 - 1
22-39714581-G-T c.20C>A p.S7Y Missense 2/10 - 1
22-39714589-T-C c.12A>G p.R4= Synonymous 2/10 - 1
22-39714589-TCT-ACA c.10_12delinsTGT p.R4C Missense 2/10 - 1
22-39714591-T-G c.10A>C p.R4= Synonymous 2/10 - 1
22-39714592-G-A c.9C>T p.H3= Synonymous 2/10 - 1
22-39714592-TGTG-T c.7_9del p.H3del InFrameDeletion 2/10 - 1
22-39714604-G-A c.4-7C>T - IntronicSNV - 1/9 1
22-39714675-C-T c.4-78G>A - IntronicSNV - 1/9 1
22-39714704-C-T c.4-107G>A - IntronicSNV - 1/9 7
22-39714908-A-G c.4-311T>C - IntronicSNV - 1/9 9
22-39715047-C-G c.4-450G>C - IntronicSNV - 1/9 3
22-39715047-C-T c.4-450G>A - IntronicSNV - 1/9 3
22-39715102-T-A c.3+498A>T - IntronicSNV - 1/9 1
22-39715102-T-C c.3+498A>G - IntronicSNV - 1/9 1
22-39715102-T-G c.3+498A>C - IntronicSNV - 1/9 1
22-39715140-C-T c.3+460G>A - IntronicSNV - 1/9 5
22-39715144-G-A c.3+456C>T - IntronicSNV - 1/9 1
22-39715219-T-A c.3+381A>T - IntronicSNV - 1/9 3
22-39715262-G-A c.3+338C>T - IntronicSNV - 1/9 9
22-39715271-G-A c.3+329C>T - IntronicSNV - 1/9 1
22-39715271-G-C c.3+329C>G - IntronicSNV - 1/9 1
22-39715455-T-C c.3+145A>G - IntronicSNV - 1/9 1
22-39715524-G-A c.3+76C>T - IntronicSNV - 1/9 2
22-39715524-G-C c.3+76C>G - IntronicSNV - 1/9 2
22-39715593-C-G c.3+7G>C - IntronicSNV - 1/9 1
22-39715593-C-T c.3+7G>A - IntronicSNV - 1/9 1
22-39715602-T-C c.1A>G p.M1? Missense 1/10 - 1
22-39715606-G-A c.-4C>T - 5-UTRSNV 1/10 - 1
22-39715606-G-C c.-4C>G - 5-UTRSNV 1/10 - 1
22-39715608-C-A c.-6G>T - 5-UTRSNV 1/10 - 4
22-39715608-C-T c.-6G>A - 5-UTRSNV 1/10 - 4