MRPL9

MRPL9 mitochondrial ribosomal protein L9

Annotation transcript: NM_031420.4

270 unique variant annotations were identified in 229 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
1-151732528-A-T c.802T>A p.*268Kext*23 Missense 7/7 - 2
1-151732535-G-C c.795C>G p.P265= Synonymous 7/7 - 2
1-151732537-G-A c.793C>T p.P265S Missense 7/7 - 2
1-151732544-G-A c.786C>T p.P262= Synonymous 7/7 - 1
1-151732544-G-C c.786C>G p.P262= Synonymous 7/7 - 1
1-151732544-G-T c.786C>A p.P262= Synonymous 7/7 - 1
1-151732548-G-C c.782C>G p.A261G Missense 7/7 - 2
1-151732552-T-C c.778A>G p.M260V Missense 7/7 - 2
1-151732561-C-A c.769G>T p.A257S Missense 7/7 - 1
1-151732563-GC-AG c.766_767delinsCT p.A256L Missense 7/7 - 1
1-151732564-CT-C c.765del p.A256Lfs*62 Frameshift 7/7 - 2
1-151732580-G-A c.750C>T p.Y250= Synonymous 7/7 - 2
1-151732583-C-G c.747G>C p.K249N Missense 7/7 - 1
1-151732584-T-G c.746A>C p.K249T Missense 7/7 - 1
1-151732586-A-C c.744T>G p.Y248* Nonsense 7/7 - 2
1-151732586-A-T c.744T>A p.Y248* Nonsense 7/7 - 2
1-151732587-T-C c.743A>G p.Y248C Missense 7/7 - 4
1-151732588-A-T c.742T>A p.Y248N Missense 7/7 - 2
1-151732590-C-A c.740G>T p.R247I Missense 7/7 - 4
1-151732596-G-C c.734C>G p.T245S Missense 7/7 - 1
1-151732596-GT-CA c.733_734delinsTG p.T245C Missense 7/7 - 1
1-151732597-T-A c.733A>T p.T245S Missense 7/7 - 1
1-151732598-C-A c.732G>T p.K244N Missense 7/7 - 3
1-151732598-C-G c.732G>C p.K244N Missense 7/7 - 2
1-151732601-G-A c.729C>T p.P243= Synonymous 7/7 - 2
1-151732601-G-C c.729C>G p.P243= Synonymous 7/7 - 2
1-151732601-G-T c.729C>A p.P243= Synonymous 7/7 - 2
1-151732604-C-A c.726G>T p.K242N Missense 7/7 - 1
1-151732604-C-G c.726G>C p.K242N Missense 7/7 - 1
1-151732604-CT-C c.725del p.K242Sfs*11 Frameshift 7/7 - 1
1-151732610-A-C c.720T>G p.F240L Missense 7/7 - 1
1-151732613-G-A c.717C>T p.N239= Synonymous 7/7 - 1
1-151732617-CA-C c.713del p.V238Gfs*15 Frameshift 7/7 - 1
1-151732618-C-T c.712G>A p.V238M Missense 7/7 - 2
1-151732620-A-G c.710T>C p.V237A Missense 7/7 - 2
1-151732626-A-G c.704T>C p.M235T Missense 7/7 - 1
1-151732634-T-A c.696A>T p.R232S Missense 7/7 - 1
1-151732634-T-G c.696A>C p.R232S Missense 7/7 - 1
1-151732635-C-G c.695G>C p.R232T Missense 7/7 - 2
1-151732641-G-A c.689C>T p.T230I Missense 7/7 - 2
1-151732648-G-A c.682C>T p.L228F Missense 7/7 - 1
1-151732650-C-G c.680G>C p.G227A Missense 7/7 - 1
1-151732654-T-C c.676A>G p.N226D Missense 7/7 - 1
1-151732656-A-C c.674T>G p.V225G Missense 7/7 - 1
1-151732657-C-G c.673G>C p.V225L Missense 7/7 - 1
1-151732700-A-G c.673-43T>C - IntronicSNV - 6/6 10
1-151732915-C-T c.673-258G>A - IntronicSNV - 6/6 1
1-151733025-T-C c.672+267A>G - IntronicSNV - 6/6 1
1-151733162-G-A c.672+130C>T - IntronicSNV - 6/6 3
1-151733162-G-C c.672+130C>G - IntronicSNV - 6/6 1
1-151733162-G-T c.672+130C>A - IntronicSNV - 6/6 1
1-151733292-C-T c.672G>A p.T224= Synonymous 6/7 - 1
1-151733293-G-A c.671C>T p.T224M Missense 6/7 - 6
1-151733295-C-T c.669G>A p.V223= Synonymous 6/7 - 1
1-151733297-C-G c.667G>C p.V223L Missense 6/7 - 1
1-151733298-C-T c.666G>A p.E222= Synonymous 6/7 - 1
1-151733301-A-G c.663T>C p.C221= Synonymous 6/7 - 1
1-151733304-C-T c.660G>A p.W220* Nonsense 6/7 - 1
1-151733313-G-A c.651C>T p.G217= Synonymous 6/7 - 1
1-151733319-C-T c.645G>A p.R215= Synonymous 6/7 - 1
1-151733326-A-G c.638T>C p.I213T Missense 6/7 - 1
1-151733327-T-C c.637A>G p.I213V Missense 6/7 - 16
1-151733329-G-A c.635C>T p.P212L Missense 6/7 - 1
1-151733334-T-C c.630A>G p.E210= Synonymous 6/7 - 2
1-151733335-T-A c.629A>T p.E210V Missense 6/7 - 1
1-151733335-T-G c.629A>C p.E210A Missense 6/7 - 38
1-151733340-T-A c.624A>T p.L208F Missense 6/7 - 1
1-151733340-T-G c.624A>C p.L208F Missense 6/7 - 1
1-151733348-A-C c.616T>G p.L206V Missense 6/7 - 7
1-151733360-C-A c.604G>T p.A202S Missense 6/7 - 1
1-151733360-C-T c.604G>A p.A202T Missense 6/7 - 1
1-151733368-A-C c.596T>G p.V199G Missense 6/7 - 1
1-151733369-C-A c.595G>T p.V199F Missense 6/7 - 1
1-151733371-C-T c.593G>A p.G198D Missense 6/7 - 1
1-151733380-A-C c.589-5T>G - IntronicSNV - 5/6 1
1-151733380-A-T c.589-5T>A - IntronicSNV - 5/6 1
1-151733874-C-G c.588+53G>C - IntronicSNV - 5/6 6
1-151733936-G-A c.579C>T p.F193= Synonymous 5/7 - 4
1-151733937-A-G c.578T>C p.F193S Missense 5/7 - 1
1-151733936-G-C c.579C>G p.F193L Missense 5/7 - 1
1-151733936-G-T c.579C>A p.F193L Missense 5/7 - 1
1-151733938-A-G c.577T>C p.F193L Missense 5/7 - 1
1-151733943-C-G c.572G>C p.R191P Missense 5/7 - 1
1-151733943-C-T c.572G>A p.R191H Missense 5/7 - 4
1-151733944-G-A c.571C>T p.R191C Missense 5/7 - 1
1-151733944-G-T c.571C>A p.R191S Missense 5/7 - 1
1-151733945-G-A c.570C>T p.A190= Synonymous 5/7 - 1
1-151733946-G-A c.569C>T p.A190V Missense 5/7 - 1
1-151733950-C-T c.565G>A p.V189I Missense 5/7 - 1
1-151733953-T-C c.562A>G p.I188V Missense 5/7 - 3
1-151733956-C-T c.559G>A p.E187K Missense 5/7 - 1
1-151733957-AG-TA c.557_558delinsTA p.P186L Missense 5/7 - 1
1-151733958-G-A c.557C>T p.P186L Missense 5/7 - 3
1-151733960-G-A c.555C>T p.N185= Synonymous 5/7 - 2
1-151733963-C-A c.552G>T p.L184= Synonymous 5/7 - 1
1-151733963-C-G c.552G>C p.L184= Synonymous 5/7 - 1
1-151733963-C-T c.552G>A p.L184= Synonymous 5/7 - 2
1-151733965-G-A c.550C>T p.L184= Synonymous 5/7 - 1
1-151733971-CA-C c.544del p.W182Gfs*3 Frameshift 5/7 - 1
1-151733980-T-C c.535A>G p.N179D Missense 5/7 - 1
1-151733983-T-C c.532A>G p.N178D Missense 5/7 - 3
1-151734003-C-T c.512G>A p.R171H Missense 5/7 - 1
1-151734008-G-A c.507C>T p.S169= Synonymous 5/7 - 3
1-151734008-G-C c.507C>G p.S169R Missense 5/7 - 1
1-151734008-G-T c.507C>A p.S169R Missense 5/7 - 1
1-151734010-T-G c.505A>C p.S169R Missense 5/7 - 1
1-151734013-T-C c.502A>G p.K168E Missense 5/7 - 1
1-151734025-C-A c.490G>T p.V164L Missense 5/7 - 1
1-151734025-C-G c.490G>C p.V164L Missense 5/7 - 1
1-151734027-G-A c.488C>T p.T163I Missense 5/7 - 1
1-151734042-T-TG c.487-15dup - IntronicInsertion - 4/6 1
1-151734136-G-A c.487-108C>T - IntronicSNV - 4/6 3
1-151734480-C-G c.486+101G>C - IntronicSNV - 4/6 1
1-151734582-G-A c.485C>T p.A162V Missense 4/7 - 1
1-151734589-C-CT c.477dup p.G160Rfs*2 Frameshift 4/7 - 1
1-151734590-T-A c.477A>T p.A159= Synonymous 4/7 - 1
1-151734590-T-C c.477A>G p.A159= Synonymous 4/7 - 1
1-151734590-T-G c.477A>C p.A159= Synonymous 4/7 - 1
1-151734596-GG-CA c.470_471delinsTG p.T157M Missense 4/7 - 2
1-151734599-C-A c.468G>T p.Q156H Missense 4/7 - 1
1-151734599-C-G c.468G>C p.Q156H Missense 4/7 - 1
1-151734604-T-C c.463A>G p.I155V Missense 4/7 - 1
1-151734609-T-C c.458A>G p.E153G Missense 4/7 - 1
1-151734613-A-C c.454T>G p.L152V Missense 4/7 - 1
1-151734620-T-A c.447A>T p.E149D Missense 4/7 - 1
1-151734620-T-G c.447A>C p.E149D Missense 4/7 - 1
1-151734622-C-T c.445G>A p.E149K Missense 4/7 - 1
1-151734623-CTT-C c.443_444del p.Q148Rfs*13 Frameshift 4/7 - 2
1-151734630-A-G c.437T>C p.L146P Missense 4/7 - 1
1-151734690-G-C c.436-59C>G - IntronicSNV - 3/6 6
1-151734829-C-G c.435+23G>C - IntronicSNV - 3/6 1
1-151734858-C-A c.429G>T p.E143D Missense 3/7 - 8
1-151734858-C-G c.429G>C p.E143D Missense 3/7 - 6
1-151734860-C-A c.427G>T p.E143* Nonsense 3/7 - 3
1-151734860-C-T c.427G>A p.E143K Missense 3/7 - 1
1-151734864-T-A c.423A>T p.E141D Missense 3/7 - 1
1-151734864-T-G c.423A>C p.E141D Missense 3/7 - 1
1-151734876-C-A c.411G>T p.K137N Missense 3/7 - 1
1-151734876-C-G c.411G>C p.K137N Missense 3/7 - 1
1-151734879-G-C c.408C>G p.N136K Missense 3/7 - 7
1-151734879-G-T c.408C>A p.N136K Missense 3/7 - 2
1-151734881-T-C c.406A>G p.N136D Missense 3/7 - 1
1-151734884-C-G c.403G>C p.E135Q Missense 3/7 - 1
1-151734887-G-C c.400C>G p.P134A Missense 3/7 - 1
1-151734888-G-A c.399C>T p.S133= Synonymous 3/7 - 1
1-151734897-T-A c.390A>T p.V130= Synonymous 3/7 - 1
1-151734897-T-C c.390A>G p.V130= Synonymous 3/7 - 1
1-151734897-T-G c.390A>C p.V130= Synonymous 3/7 - 1
1-151734898-A-G c.389T>C p.V130A Missense 3/7 - 1
1-151734909-C-A c.378G>T p.Q126H Missense 3/7 - 5
1-151734909-C-G c.378G>C p.Q126H Missense 3/7 - 3
1-151734909-C-T c.378G>A p.Q126= Synonymous 3/7 - 1
1-151734917-G-A c.370C>T p.L124F Missense 3/7 - 1
1-151734922-C-A c.365G>T p.R122L Missense 3/7 - 1
1-151734923-G-A c.364C>T p.R122* Nonsense 3/7 - 2
1-151734928-C-T c.359G>A p.R120Q Missense 3/7 - 2
1-151734927-C-A c.360G>T p.R120= Synonymous 3/7 - 3
1-151734927-C-G c.360G>C p.R120= Synonymous 3/7 - 3
1-151734927-C-T c.360G>A p.R120= Synonymous 3/7 - 4
1-151734929-G-T c.358C>A p.R120= Synonymous 3/7 - 3
1-151734931-C-T c.356G>A p.G119D Missense 3/7 - 2
1-151734954-C-A c.333G>T p.L111= Synonymous 3/7 - 1
1-151734954-C-G c.333G>C p.L111= Synonymous 3/7 - 1
1-151734954-C-T c.333G>A p.L111= Synonymous 3/7 - 2
1-151734956-G-A c.331C>T p.L111= Synonymous 3/7 - 1
1-151734958-T-C c.329A>G p.D110G Missense 3/7 - 1
1-151734960-AC-CT c.326_327delinsAG p.G109E Missense 3/7 - 1
1-151734961-C-T c.326G>A p.G109D Missense 3/7 - 3
1-151734963-C-T c.324G>A p.R108= Synonymous 3/7 - 3
1-151734964-C-A c.323G>T p.R108L Missense 3/7 - 1
1-151734964-C-T c.323G>A p.R108Q Missense 3/7 - 1
1-151734964-CG-C c.322del p.R108Gfs*7 Frameshift 3/7 - 1
1-151734966-G-A c.321C>T p.V107= Synonymous 3/7 - 1
1-151734968-C-T c.319G>A p.V107I Missense 3/7 - 1
1-151734975-A-AT c.311dup p.N104Kfs*7 SpliceAcceptorInsertion - - 1
1-151735007-G-A c.311-31C>T - IntronicSNV - 2/6 4
1-151735275-T-A c.310+191A>T - IntronicSNV - 2/6 1
1-151735441-G-A c.310+25C>T - IntronicSNV - 2/6 7
1-151735469-C-T c.307G>A p.E103K Missense 2/7 - 1
1-151735470-CAC-GAT c.304_306delinsATC p.V102I Missense 2/7 - 1
1-151735487-T-C c.289A>G p.I97V Missense 2/7 - 1
1-151735487-T-G c.289A>C p.I97L Missense 2/7 - 1
1-151735490-G-T c.286C>A p.L96I Missense 2/7 - 1
1-151735493-C-T c.283G>A p.E95K Missense 2/7 - 4
1-151735502-C-G c.274G>C p.E92Q Missense 2/7 - 1
1-151735508-G-C c.268C>G p.P90A Missense 2/7 - 1
1-151735509-CCG-GCT c.265_267delinsAGC p.R89S Missense 2/7 - 1
1-151735511-G-C c.265C>G p.R89G Missense 2/7 - 1
1-151735515-C-A c.261G>T p.K87N Missense 2/7 - 1
1-151735515-C-G c.261G>C p.K87N Missense 2/7 - 1
1-151735515-C-T c.261G>A p.K87= Synonymous 2/7 - 1
1-151735518-C-A c.258G>T p.T86= Synonymous 2/7 - 2
1-151735518-C-G c.258G>C p.T86= Synonymous 2/7 - 1
1-151735518-C-T c.258G>A p.T86= Synonymous 2/7 - 1
1-151735520-T-C c.256A>G p.T86A Missense 2/7 - 1
1-151735528-A-G c.248T>C p.V83A Missense 2/7 - 1
1-151735545-A-G c.231T>C p.H77= Synonymous 2/7 - 10
1-151735548-TCG-CCA c.226_228delinsTGG p.R76W Missense 2/7 - 1
1-151735549-C-T c.227G>A p.R76Q Missense 2/7 - 7
1-151735551-C-T c.225G>A p.R75= Synonymous 2/7 - 1
1-151735553-G-A c.223C>T p.R75W Missense 2/7 - 1
1-151735554-G-C c.222C>G p.H74Q Missense 2/7 - 1
1-151735554-G-T c.222C>A p.H74Q Missense 2/7 - 2
1-151735572-G-A c.204C>T p.G68= Synonymous 2/7 - 1
1-151735572-G-C c.204C>G p.G68= Synonymous 2/7 - 1
1-151735573-C-T c.203G>A p.G68D Missense 2/7 - 1
1-151735572-GC-G c.203del p.G68Afs*31 Frameshift 2/7 - 1
1-151735572-G-GC c.203dup p.R69Pfs*13 Frameshift 2/7 - 2
1-151735575-C-T c.201G>A p.E67= Synonymous 2/7 - 2
1-151735576-CT-C c.200del p.E67Gfs*32 Frameshift 2/7 - 3
1-151735576-T-C c.200A>G p.E67G Missense 2/7 - 21
1-151735579-C-T c.197G>A p.G66E Missense 2/7 - 2
1-151735576-T-TC c.199dup p.E67Gfs*15 Frameshift 2/7 - 1
1-151735580-C-T c.196G>A p.G66R Missense 2/7 - 2
1-151735588-G-A c.188C>T p.P63L Missense 2/7 - 1
1-151735589-G-A c.187C>T p.P63S Missense 2/7 - 2
1-151735594-T-A c.182A>T p.K61M Missense 2/7 - 1
1-151735596-C-T c.180G>A p.W60* Nonsense 2/7 - 1
1-151735597-C-T c.179G>A p.W60* Nonsense 2/7 - 1
1-151735603-C-T c.173G>A p.R58H Missense 2/7 - 1
1-151735606-T-C c.170A>G p.E57G Missense 2/7 - 1
1-151735610-C-A c.166G>T p.V56L Missense 2/7 - 1
1-151735621-C-G c.155G>C p.G52A Missense 2/7 - 1
1-151735804-C-T c.152G>A p.R51Q Missense 1/7 - 1
1-151735806-AT-A c.149del p.N50Ifs*49 Frameshift 1/7 - 1
1-151735826-T-C c.130A>G p.N44D Missense 1/7 - 1
1-151735830-GGC-CAT c.124_126delinsATG p.A42M Missense 1/7 - 1
1-151735831-GC-TA c.124_125delinsTA p.A42Y Missense 1/7 - 1
1-151735832-C-T c.124G>A p.A42T Missense 1/7 - 1
1-151735838-C-G c.118G>C p.D40H Missense 1/7 - 1
1-151735841-G-A c.115C>T p.P39S Missense 1/7 - 1
1-151735853-C-T c.103G>A p.E35K Missense 1/7 - 1
1-151735858-C-A c.98G>T p.R33L Missense 1/7 - 1
1-151735858-C-T c.98G>A p.R33Q Missense 1/7 - 1
1-151735857-T-A c.99A>T p.R33= Synonymous 1/7 - 1
1-151735857-T-C c.99A>G p.R33= Synonymous 1/7 - 1
1-151735857-T-G c.99A>C p.R33= Synonymous 1/7 - 1
1-151735859-G-A c.97C>T p.R33* Nonsense 1/7 - 1
1-151735859-G-T c.97C>A p.R33= Synonymous 1/7 - 1
1-151735863-C-A c.93G>T p.R31= Synonymous 1/7 - 1
1-151735863-C-G c.93G>C p.R31= Synonymous 1/7 - 1
1-151735863-C-T c.93G>A p.R31= Synonymous 1/7 - 1
1-151735865-G-T c.91C>A p.R31= Synonymous 1/7 - 1
1-151735875-C-A c.81G>T p.Q27H Missense 1/7 - 4
1-151735875-C-G c.81G>C p.Q27H Missense 1/7 - 4
1-151735879-A-G c.77T>C p.V26A Missense 1/7 - 1
1-151735883-C-A c.73G>T p.G25C Missense 1/7 - 1
1-151735884-CT-C c.72del p.G25Afs*74 Frameshift 1/7 - 1
1-151735884-TC-T c.71del p.G24Efs*75 Frameshift 1/7 - 1
1-151735896-C-A c.60G>T p.R20= Synonymous 1/7 - 1
1-151735896-C-G c.60G>C p.R20= Synonymous 1/7 - 1
1-151735896-C-T c.60G>A p.R20= Synonymous 1/7 - 1
1-151735898-G-T c.58C>A p.R20= Synonymous 1/7 - 1
1-151735903-G-A c.53C>T p.A18V Missense 1/7 - 1
1-151735903-GC-CG c.52_53delinsCG p.A18R Missense 1/7 - 1
1-151735908-CGC-ATA c.46_48delinsTAT p.A16Y Missense 1/7 - 1
1-151735908-CG-GT c.47_48delinsAC p.A16D Missense 1/7 - 1
1-151735911-C-T c.45G>A p.R15= Synonymous 1/7 - 1
1-151735913-G-A c.43C>T p.R15W Missense 1/7 - 3
1-151735920-AGC-TTG c.34_36delinsCAA p.A12Q Missense 1/7 - 1
1-151735921-G-A c.35C>T p.A12V Missense 1/7 - 1
1-151735921-GC-AG c.34_35delinsCT p.A12L Missense 1/7 - 1
1-151735921-G-T c.35C>A p.A12D Missense 1/7 - 1
1-151735922-C-G c.34G>C p.A12P Missense 1/7 - 3
1-151735922-C-T c.34G>A p.A12T Missense 1/7 - 2
1-151735940-C-A c.16G>T p.V6F Missense 1/7 - 1
1-151735944-G-A c.12C>T p.P4= Synonymous 1/7 - 1
1-151735944-G-C c.12C>G p.P4= Synonymous 1/7 - 1
1-151735944-G-T c.12C>A p.P4= Synonymous 1/7 - 1
1-151735951-G-A c.5C>T p.A2V Missense 1/7 - 1