All transcript variants in gene MRPL39

Information The variants shown are described using the NM_017446.3 transcript reference sequence.

109 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-12C>T r.(=) p.(=) g.26979799G>A Copied from the Exome Variant Server MRPL39_000109 2/13002 2/8600 0/4402
?/? c.-3G>A r.(=) p.(=) g.26979790C>T Copied from the Exome Variant Server MRPL39_000108 1/13002 1/8600 0/4402
?/? c.1A>T r.? p.? g.26979787T>A Copied from the Exome Variant Server MRPL39_000107 1/13002 1/8600 0/4402
?/? c.2T>C r.? p.? g.26979786A>G Copied from the Exome Variant Server MRPL39_000106 55/13002 52/8600 3/4402
?/? c.3G>A r.? p.? g.26979785C>T Copied from the Exome Variant Server MRPL39_000105 1/13002 1/8600 0/4402
?/? c.13G>T r.(?) p.(Ala5Ser) g.26979775C>A Copied from the Exome Variant Server MRPL39_000104 9/13006 0/8600 9/4406
?/? c.16A>G r.(?) p.(Met6Val) g.26979772T>C Copied from the Exome Variant Server MRPL39_000103 1/13006 1/8600 0/4406
?/? c.20G>T r.(?) p.(Gly7Val) g.26979768C>A Copied from the Exome Variant Server MRPL39_000102 2/13006 2/8600 0/4406
?/? c.24C>T r.(=) p.(=) g.26979764G>A Copied from the Exome Variant Server MRPL39_000101 11/13004 0/8598 11/4406
?/? c.30G>A r.(=) p.(=) g.26979758C>T Copied from the Exome Variant Server MRPL39_000100 2/13004 2/8598 0/4406
?/? c.31C>G r.(?) p.(Leu11Val) g.26979757G>C Copied from the Exome Variant Server MRPL39_000099 1/13004 1/8598 0/4406
?/? c.36G>A r.(=) p.(=) g.26979752C>T Copied from the Exome Variant Server MRPL39_000098 227/13006 4/8600 223/4406
?/? c.41G>C r.(?) p.(Trp14Ser) g.26979747C>G Copied from the Exome Variant Server MRPL39_000097 1/13006 0/8600 1/4406
?/? c.48C>T r.(=) p.(=) g.26979740G>A Copied from the Exome Variant Server MRPL39_000096 1/13006 0/8600 1/4406
?/? c.55G>A r.(?) p.(Gly19Ser) g.26979733C>T Copied from the Exome Variant Server MRPL39_000095 1/13006 1/8600 0/4406
?/? c.60C>T r.(=) p.(=) g.26979728G>A Copied from the Exome Variant Server MRPL39_000094 1/13006 0/8600 1/4406
?/? c.73+17G>T r.(=) p.(=) g.26979698C>A Copied from the Exome Variant Server MRPL39_000093 24/13006 0/8600 24/4406
?/? c.74-11C>T r.(=) p.(=) g.26978978G>A Copied from the Exome Variant Server MRPL39_000092 5/13002 0/8598 5/4404
?/? c.74-6C>G r.(=) p.(=) g.26978973G>C Copied from the Exome Variant Server MRPL39_000091 2/13004 2/8598 0/4406
?/? c.91T>C N/A N/A g.26978950A>G Copied from the Exome Variant Server MRPL39_000090 11753/13006 8239/8600 3514/4406
?/? c.102G>A r.(=) p.(=) g.26978939C>T Copied from the Exome Variant Server MRPL39_000089 1/13006 1/8600 0/4406
?/? c.139C>T r.(?) p.(Leu47Phe) g.26978902G>A Copied from the Exome Variant Server MRPL39_000088 1/13006 0/8600 1/4406
?/? c.162G>A r.(=) p.(=) g.26978879C>T Copied from the Exome Variant Server MRPL39_000087 15/13006 14/8600 1/4406
?/? c.187G>C r.(?) p.(Glu63Gln) g.26978854C>G Copied from the Exome Variant Server MRPL39_000086 1/13006 0/8600 1/4406
?/? c.235T>G r.(?) p.(Phe79Val) g.26978806A>C Copied from the Exome Variant Server MRPL39_000085 8/13006 8/8600 0/4406
?/? c.238G>A r.(?) p.(Val80Met) g.26978803C>T Copied from the Exome Variant Server MRPL39_000084 15/13006 2/8600 13/4406
?/? c.251A>G r.(?) p.(Asn84Ser) g.26978790T>C Copied from the Exome Variant Server MRPL39_000083 117/13006 1/8600 116/4406
?/? c.259A>G r.(?) p.(Thr87Ala) g.26978782T>C Copied from the Exome Variant Server MRPL39_000082 1/13006 1/8600 0/4406
?/? c.275C>G r.(?) p.(Ala92Gly) g.26978766G>C Copied from the Exome Variant Server MRPL39_000081 1/13006 1/8600 0/4406
?/? c.280+18G>C r.(=) p.(=) g.26978743C>G Copied from the Exome Variant Server MRPL39_000080 7/13006 0/8600 7/4406
?/? c.280+37T>C r.(=) p.(=) g.26978724A>G Copied from the Exome Variant Server MRPL39_000079 1/13006 1/8600 0/4406
?/? c.280+40T>C r.(=) p.(=) g.26978721A>G Copied from the Exome Variant Server MRPL39_000078 1/13006 1/8600 0/4406
?/? c.280+47G>A r.(=) p.(=) g.26978714C>T Copied from the Exome Variant Server MRPL39_000077 1/13006 0/8600 1/4406
?/? c.281-3T>C r.spl? p.? g.26976250A>G Copied from the Exome Variant Server MRPL39_000076 8657/13006 6517/8600 2140/4406
?/? c.288C>G r.(?) p.(Ser96Arg) g.26976240G>C Copied from the Exome Variant Server MRPL39_000075 1/13006 1/8600 0/4406
?/? c.291G>A r.(=) p.(=) g.26976237C>T Copied from the Exome Variant Server MRPL39_000074 1016/13006 19/8600 997/4406
?/? c.306G>A r.(=) p.(=) g.26976222C>T Copied from the Exome Variant Server MRPL39_000073 923/13006 17/8600 906/4406
?/? c.323T>G r.(?) p.(Val108Gly) g.26976205A>C Copied from the Exome Variant Server MRPL39_000072 1/13006 1/8600 0/4406
?/? c.352C>A r.(?) p.(Pro118Thr) g.26976176G>T Copied from the Exome Variant Server MRPL39_000071 1/13006 1/8600 0/4406
?/? c.379T>C r.(?) p.(Phe127Leu) g.26976149A>G Copied from the Exome Variant Server MRPL39_000070 5/13006 0/8600 5/4406
?/? c.380T>A r.(?) p.(Phe127Tyr) g.26976148A>T Copied from the Exome Variant Server MRPL39_000069 2/13006 2/8600 0/4406
?/? c.384T>C r.(=) p.(=) g.26976144A>G Copied from the Exome Variant Server MRPL39_000068 1/13006 0/8600 1/4406
?/? c.413T>C r.(?) p.(Val138Ala) g.26976115A>G Copied from the Exome Variant Server MRPL39_000067 1/13006 0/8600 1/4406
?/? c.420+16C>T r.(=) p.(=) g.26976092G>A Copied from the Exome Variant Server MRPL39_000066 1/13006 0/8600 1/4406
?/? c.420+19del r.(=) p.(=) g.26976089del Copied from the Exome Variant Server MRPL39_000065 5/12518 5/8254 0/4264
?/? c.420+36A>G r.(=) p.(=) g.26976072T>C Copied from the Exome Variant Server MRPL39_000064 1/13006 1/8600 0/4406
?/? c.420+39A>G r.(=) p.(=) g.26976069T>C Copied from the Exome Variant Server MRPL39_000063 1/13006 1/8600 0/4406
?/? c.421-18T>C r.(=) p.(=) g.26973797A>G Copied from the Exome Variant Server MRPL39_000062 1/12986 1/8596 0/4390
?/? c.421-13del r.(=) p.(=) g.26973792del Copied from the Exome Variant Server MRPL39_000061 111/12492 100/8240 11/4252
?/? c.421-11T>A r.(=) p.(=) g.26973790A>T Copied from the Exome Variant Server MRPL39_000060 2/13002 2/8600 0/4402
?/? c.431G>A r.(?) p.(Arg144His) g.26973769C>T Copied from the Exome Variant Server MRPL39_000059 1/13006 0/8600 1/4406
?/? c.520+10A>G r.(=) p.(=) g.26973670T>C Copied from the Exome Variant Server MRPL39_000058 1/13006 1/8600 0/4406
?/? c.520+14_520+15insCAAGTA r.(=) p.(=) g.26973665_26973666insTACTTG Copied from the Exome Variant Server MRPL39_000057 8389/12516 5711/8252 2678/4264
?/? c.521-22T>C r.(=) p.(=) g.26972200A>G Copied from the Exome Variant Server MRPL39_000056 23/13006 0/8600 23/4406
?/? c.526del r.(?) p.(Ser176Leufs*8) g.26972173del Copied from the Exome Variant Server MRPL39_000055 2/12518 0/8254 2/4264
?/? c.555G>T r.(?) p.(Leu185Phe) g.26972144C>A Copied from the Exome Variant Server MRPL39_000054 4/13006 3/8600 1/4406
?/? c.565C>T r.(?) p.(Leu189Phe) g.26972134G>A Copied from the Exome Variant Server MRPL39_000053 3/13006 3/8600 0/4406
?/? c.566T>C r.(?) p.(Leu189Pro) g.26972133A>G Copied from the Exome Variant Server MRPL39_000052 1/13006 1/8600 0/4406
?/? c.586A>T r.(?) p.(Lys196*) g.26972113T>A Copied from the Exome Variant Server MRPL39_000051 1/13006 1/8600 0/4406
?/? c.588+32G>C r.(=) p.(=) g.26972079C>G Copied from the Exome Variant Server MRPL39_000050 3/13006 3/8600 0/4406
?/? c.589-22G>T r.(=) p.(=) g.26969748C>A Copied from the Exome Variant Server MRPL39_000049 1/12938 1/8562 0/4376
?/? c.597_598insA r.(?) p.(Arg200Thrfs*13) g.26969717_26969718insT Copied from the Exome Variant Server MRPL39_000048 1/12500 0/8246 1/4254
?/? c.612A>G r.(=) p.(=) g.26969703T>C Copied from the Exome Variant Server MRPL39_000047 10432/13000 7124/8600 3308/4400
?/? c.632A>G r.(?) p.(Tyr211Cys) g.26969683T>C Copied from the Exome Variant Server MRPL39_000046 1/12998 0/8598 1/4400
?/? c.649G>C r.(?) p.(Glu217Gln) g.26969666C>G Copied from the Exome Variant Server MRPL39_000045 1/13000 1/8598 0/4402
?/? c.654T>C r.(=) p.(=) g.26969661A>G Copied from the Exome Variant Server MRPL39_000044 1/13000 0/8598 1/4402
?/? c.702-47T>C r.(=) p.(=) g.26966317A>G Copied from the Exome Variant Server MRPL39_000043 8231/12994 6482/8594 1749/4400
?/? c.729G>A r.(=) p.(=) g.26966243C>T Copied from the Exome Variant Server MRPL39_000042 2/13006 2/8600 0/4406
?/? c.732A>T r.(=) p.(=) g.26966240T>A Copied from the Exome Variant Server MRPL39_000041 1/13006 1/8600 0/4406
?/? c.757A>G r.(?) p.(Lys253Glu) g.26966215T>C Copied from the Exome Variant Server MRPL39_000040 1/13006 1/8600 0/4406
?/? c.767+3A>G r.spl? p.? g.26966202T>C Copied from the Exome Variant Server MRPL39_000039 1/13006 1/8600 0/4406
?/? c.767+41G>A r.(=) p.(=) g.26966164C>T Copied from the Exome Variant Server MRPL39_000038 297/13006 0/8600 297/4406
?/? c.767+47G>C r.(=) p.(=) g.26966158C>G Copied from the Exome Variant Server MRPL39_000037 1/13006 0/8600 1/4406
?/? c.768-47A>G r.(=) p.(=) g.26965324T>C Copied from the Exome Variant Server MRPL39_000036 3/12986 3/8596 0/4390
?/? c.768-36G>T r.(=) p.(=) g.26965313C>A Copied from the Exome Variant Server MRPL39_000035 2/12996 0/8600 2/4396
?/? c.768-6A>C r.(=) p.(=) g.26965283T>G Copied from the Exome Variant Server MRPL39_000034 7/13006 0/8600 7/4406
?/? c.771A>G r.(?) p.(Ile257Met) g.26965274T>C Copied from the Exome Variant Server MRPL39_000033 3/13006 3/8600 0/4406
?/? c.782T>C r.(?) p.(Ile261Thr) g.26965263A>G Copied from the Exome Variant Server MRPL39_000032 2/13006 1/8600 1/4406
?/? c.822T>C r.(=) p.(=) g.26965223A>G Copied from the Exome Variant Server MRPL39_000031 26/13006 0/8600 26/4406
?/? c.833A>T r.(?) p.(Tyr278Phe) g.26965212T>A Copied from the Exome Variant Server MRPL39_000030 1/13006 1/8600 0/4406
?/? c.840A>G r.(=) p.(=) g.26965205T>C Copied from the Exome Variant Server MRPL39_000029 10419/13006 7111/8600 3308/4406
?/? c.861A>G r.(=) p.(=) g.26965184T>C Copied from the Exome Variant Server MRPL39_000028 1/13006 0/8600 1/4406
?/? c.871C>A r.(?) p.(Pro291Thr) g.26965174G>T Copied from the Exome Variant Server MRPL39_000027 1/13006 1/8600 0/4406
?/? c.873A>G r.(=) p.(=) g.26965172T>C Copied from the Exome Variant Server MRPL39_000026 116/13006 1/8600 115/4406
?/? c.879C>T r.(=) p.(=) g.26965166G>A Copied from the Exome Variant Server MRPL39_000025 1/13006 1/8600 0/4406
?/? c.890T>C r.(?) p.(Phe297Ser) g.26965155A>G Copied from the Exome Variant Server MRPL39_000024 1/13006 1/8600 0/4406
?/? c.897C>T r.(=) p.(=) g.26965148G>A Copied from the Exome Variant Server MRPL39_000023 10418/13006 7111/8600 3307/4406
?/? c.898G>T r.(?) p.(Val300Leu) g.26965147C>A Copied from the Exome Variant Server MRPL39_000022 26/13006 0/8600 26/4406
?/? c.900G>C r.(=) p.(=) g.26965145C>G Copied from the Exome Variant Server MRPL39_000021 1/13006 1/8600 0/4406
?/? c.921+5G>A r.spl? p.? g.26965119C>T Copied from the Exome Variant Server MRPL39_000020 1/13006 1/8600 0/4406
?/? c.921+24G>T r.(=) p.(=) g.26965100C>A Copied from the Exome Variant Server MRPL39_000019 9491/13004 7082/8600 2409/4404
?/? c.921+39T>C r.(=) p.(=) g.26965085A>G Copied from the Exome Variant Server MRPL39_000018 1/13002 1/8600 0/4402
?/? c.921+44A>G r.(=) p.(=) g.26965080T>C Copied from the Exome Variant Server MRPL39_000017 2/13000 0/8598 2/4402
?/? c.921+47T>C r.(=) p.(=) g.26965077A>G Copied from the Exome Variant Server MRPL39_000016 2/13000 2/8598 0/4402
?/? c.922-20G>A r.(=) p.(=) g.26961214C>T Copied from the Exome Variant Server MRPL39_000015 1/12998 0/8594 1/4404
?/? c.934A>G r.(?) p.(Ile312Val) g.26961182T>C Copied from the Exome Variant Server MRPL39_000014 2/13002 2/8598 0/4404
?/? c.969+24A>G r.(=) p.(=) g.26961123T>C Copied from the Exome Variant Server MRPL39_000013 1/13002 0/8596 1/4406
?/? c.969+51A>G r.(=) p.(=) g.26961096T>C Copied from the Exome Variant Server MRPL39_000012 15/13000 2/8594 13/4406
?/? c.969+61A>G r.(=) p.(=) g.26961086T>C Copied from the Exome Variant Server MRPL39_000011 3054/4562 2388/3178 666/1384
?/? c.969+1077C>T r.(=) p.(=) g.26960070G>A Copied from the Exome Variant Server MRPL39_000010 1/13006 0/8600 1/4406
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