Unique variants in gene RTN1

Information The variants shown are described using the NM_021136.2 transcript reference sequence.

121 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.37C>T r.(?) p.(Pro13Ser) g.60337312G>A Copied from the Exome Variant Server RTN1_000121 10/4556 0/3084 10/1472
1 c.242-43C>T r.(=) p.(=) g.60213242G>A Copied from the Exome Variant Server RTN1_000120 4/13002 0/8598 4/4404
1 c.242-37G>T r.(=) p.(=) g.60213236C>A Copied from the Exome Variant Server RTN1_000119 1/13004 1/8598 0/4406
1 c.242-9G>C r.(=) p.(=) g.60213208C>G Copied from the Exome Variant Server RTN1_000118 100/13006 1/8600 99/4406
1 c.296A>G r.(?) p.(Asp99Gly) g.60213145T>C Copied from the Exome Variant Server RTN1_000117 1/13006 0/8600 1/4406
1 c.302A>G r.(?) p.(Glu101Gly) g.60213139T>C Copied from the Exome Variant Server RTN1_000116 20/13006 0/8600 20/4406
1 c.318A>G r.(=) p.(=) g.60213123T>C Copied from the Exome Variant Server RTN1_000115 1/13006 1/8600 0/4406
1 c.370A>G r.(?) p.(Thr124Ala) g.60213071T>C Copied from the Exome Variant Server RTN1_000114 157/13006 2/8600 155/4406
1 c.400G>A r.(?) p.(Val134Ile) g.60213041C>T Copied from the Exome Variant Server RTN1_000113 1/13006 0/8600 1/4406
1 c.424G>A r.(?) p.(Glu142Lys) g.60213017C>T Copied from the Exome Variant Server RTN1_000112 2/13006 0/8600 2/4406
1 c.438C>T r.(=) p.(=) g.60213003G>A Copied from the Exome Variant Server RTN1_000111 1/13006 1/8600 0/4406
1 c.529G>A r.(?) p.(Glu177Lys) g.60212912C>T Copied from the Exome Variant Server RTN1_000110 12/13006 12/8600 0/4406
1 c.565A>G r.(?) p.(Met189Val) g.60212876T>C Copied from the Exome Variant Server RTN1_000109 7/13006 0/8600 7/4406
1 c.583A>G r.(?) p.(Lys195Glu) g.60212858T>C Copied from the Exome Variant Server RTN1_000108 2/13006 2/8600 0/4406
1 c.633T>C r.(=) p.(=) g.60212808A>G Copied from the Exome Variant Server RTN1_000107 1/13006 1/8600 0/4406
1 c.639C>T r.(=) p.(=) g.60212802G>A Copied from the Exome Variant Server RTN1_000106 261/13006 2/8600 259/4406
1 c.640G>A r.(?) p.(Glu214Lys) g.60212801C>T Copied from the Exome Variant Server RTN1_000105 1/13006 0/8600 1/4406
1 c.647A>G r.(?) p.(Glu216Gly) g.60212794T>C Copied from the Exome Variant Server RTN1_000104 1/13006 1/8600 0/4406
1 c.652A>G r.(?) p.(Lys218Glu) g.60212789T>C Copied from the Exome Variant Server RTN1_000103 1/13006 1/8600 0/4406
1 c.655G>C r.(?) p.(Asp219His) g.60212786C>G Copied from the Exome Variant Server RTN1_000102 1/13006 1/8600 0/4406
1 c.660G>A r.(=) p.(=) g.60212781C>T Copied from the Exome Variant Server RTN1_000101 16/13006 16/8600 0/4406
1 c.679A>G r.(?) p.(Thr227Ala) g.60212762T>C Copied from the Exome Variant Server RTN1_000100 1/13006 1/8600 0/4406
1 c.740G>A r.(?) p.(Gly247Glu) g.60212701C>T Copied from the Exome Variant Server RTN1_000099 370/13006 6/8600 364/4406
1 c.749T>C r.(?) p.(Ile250Thr) g.60212692A>G Copied from the Exome Variant Server RTN1_000098 1/13006 1/8600 0/4406
1 c.768A>G r.(=) p.(=) g.60212673T>C Copied from the Exome Variant Server RTN1_000097 1/13006 1/8600 0/4406
1 c.776C>T r.(?) p.(Thr259Ile) g.60212665G>A Copied from the Exome Variant Server RTN1_000096 1/13006 1/8600 0/4406
1 c.790A>C r.(?) p.(Ile264Leu) g.60212651T>G Copied from the Exome Variant Server RTN1_000095 5/13006 0/8600 5/4406
1 c.815G>A r.(?) p.(Arg272His) g.60212626C>T Copied from the Exome Variant Server RTN1_000094 177/13006 2/8600 175/4406
1 c.852A>T r.(=) p.(=) g.60212589T>A Copied from the Exome Variant Server RTN1_000093 1/13006 1/8600 0/4406
1 c.857C>A r.(?) p.(Thr286Lys) g.60212584G>T Copied from the Exome Variant Server RTN1_000092 1/13006 1/8600 0/4406
1 c.866A>C r.(?) p.(Glu289Ala) g.60212575T>G Copied from the Exome Variant Server RTN1_000091 1/13006 1/8600 0/4406
1 c.888C>T r.(=) p.(=) g.60212553G>A Copied from the Exome Variant Server RTN1_000090 1/13006 1/8600 0/4406
1 c.923T>C r.(?) p.(Leu308Pro) g.60212518A>G Copied from the Exome Variant Server RTN1_000089 1/13006 1/8600 0/4406
1 c.963G>A r.(=) p.(=) g.60212478C>T Copied from the Exome Variant Server RTN1_000088 2/13006 0/8600 2/4406
1 c.976G>T r.(?) p.(Asp326Tyr) g.60212465C>A Copied from the Exome Variant Server RTN1_000087 5/13006 0/8600 5/4406
1 c.998C>A r.(?) p.(Pro333His) g.60212443G>T Copied from the Exome Variant Server RTN1_000086 1/13006 0/8600 1/4406
1 c.1015+9C>T r.(=) p.(=) g.60212417G>A Copied from the Exome Variant Server RTN1_000085 1/13006 1/8600 0/4406
1 c.1016-35C>T r.(=) p.(=) g.60194421G>A Copied from the Exome Variant Server RTN1_000084 1/12702 1/8366 0/4336
1 c.1027G>C r.(?) p.(Ala343Pro) g.60194375C>G Copied from the Exome Variant Server RTN1_000083 143/12896 122/8504 21/4392
1 c.1045G>T r.(?) p.(Gly349Cys) g.60194357C>A Copied from the Exome Variant Server RTN1_000082 5/12964 5/8570 0/4394
1 c.1052T>A r.(?) p.(Ile351Asn) g.60194350A>T Copied from the Exome Variant Server RTN1_000081 1/12962 1/8570 0/4392
1 c.1069A>G r.(?) p.(Ile357Val) g.60194333T>C Copied from the Exome Variant Server RTN1_000080 233/12982 2/8586 231/4396
1 c.1088C>T r.(?) p.(Ala363Val) g.60194314G>A Copied from the Exome Variant Server RTN1_000079 3/12992 3/8590 0/4402
1 c.1153G>A r.(?) p.(Glu385Lys) g.60194249C>T Copied from the Exome Variant Server RTN1_000078 1/12988 1/8592 0/4396
1 c.1169C>T r.(?) p.(Ser390Phe) g.60194233G>A Copied from the Exome Variant Server RTN1_000077 3/12982 0/8586 3/4396
1 c.1170C>T r.(=) p.(=) g.60194232G>A Copied from the Exome Variant Server RTN1_000076 4/12982 4/8586 0/4396
1 c.1202A>G r.(?) p.(His401Arg) g.60194200T>C Copied from the Exome Variant Server RTN1_000075 1/12952 1/8568 0/4384
1 c.1218G>A r.(=) p.(=) g.60194184C>T Copied from the Exome Variant Server RTN1_000074 34/12870 0/8502 34/4368
1 c.1241A>C r.(?) p.(Glu414Ala) g.60194161T>G Copied from the Exome Variant Server RTN1_000073 1/12792 1/8444 0/4348
1 c.1267G>A r.(?) p.(Ala423Thr) g.60194135C>T Copied from the Exome Variant Server RTN1_000072 1/12622 0/8334 1/4288
1 c.1413C>T r.(=) p.(=) g.60193989G>A Copied from the Exome Variant Server RTN1_000071 5/12744 5/8430 0/4314
1 c.1430C>T r.(?) p.(Ser477Leu) g.60193972G>A Copied from the Exome Variant Server RTN1_000070 1/12704 1/8406 0/4298
1 c.1440C>A r.(?) p.(Ser480Arg) g.60193962G>T Copied from the Exome Variant Server RTN1_000069 1/12758 0/8440 1/4318
1 c.1570G>A r.(?) p.(Asp524Asn) g.60193832C>T Copied from the Exome Variant Server RTN1_000068 1/12984 0/8586 1/4398
1 c.1572C>A r.(?) p.(Asp524Glu) g.60193830G>T Copied from the Exome Variant Server RTN1_000067 2/12984 2/8586 0/4398
1 c.1629G>C r.(=) p.(=) g.60193773C>G Copied from the Exome Variant Server RTN1_000066 2/13002 1/8598 1/4404
1 c.1638G>A r.(=) p.(=) g.60193764C>T Copied from the Exome Variant Server RTN1_000065 5/13006 0/8600 5/4406
1 c.1668_1670del r.(?) p.(Glu556del) g.60193732_60193734del Copied from the Exome Variant Server RTN1_000064 13/12518 8/8254 5/4264
1 c.1674G>A r.(=) p.(=) g.60193728C>T Copied from the Exome Variant Server RTN1_000063 24/13006 0/8600 24/4406
1 c.1703A>G r.(?) p.(Lys568Arg) g.60193699T>C Copied from the Exome Variant Server RTN1_000062 1/13006 0/8600 1/4406
1 c.1746G>C r.(=) p.(=) g.60193656C>G Copied from the Exome Variant Server RTN1_000061 1/13002 1/8600 0/4402
1 c.1766-23059C>T r.(=) p.(=) g.60097269G>A Copied from the Exome Variant Server RTN1_000060 15/13004 0/8598 15/4406
1 c.1766-23029C>A r.(=) p.(=) g.60097239G>T Copied from the Exome Variant Server RTN1_000059 1/13006 0/8600 1/4406
1 c.1766-23028C>T r.(=) p.(=) g.60097238G>A Copied from the Exome Variant Server RTN1_000058 342/13006 5/8600 337/4406
1 c.1766-22937A>G r.(=) p.(=) g.60097147T>C Copied from the Exome Variant Server RTN1_000057 1/13006 0/8600 1/4406
1 c.1766-22914G>C r.(=) p.(=) g.60097124C>G Copied from the Exome Variant Server RTN1_000056 1/13006 1/8600 0/4406
1 c.1766-22888A>G r.(=) p.(=) g.60097098T>C Copied from the Exome Variant Server RTN1_000055 2/4566 2/3182 0/1384
1 c.1766-2688G>T r.(=) p.(=) g.60076898C>A Copied from the Exome Variant Server RTN1_000054 4/5730 4/3982 0/1748
1 c.1809C>T r.(=) p.(=) g.60074167G>A Copied from the Exome Variant Server RTN1_000053 1/13006 0/8600 1/4406
1 c.1830G>A r.(=) p.(=) g.60074146C>T Copied from the Exome Variant Server RTN1_000052 1/13006 1/8600 0/4406
1 c.1850A>T r.(?) p.(Gln617Leu) g.60074126T>A Copied from the Exome Variant Server RTN1_000051 2/13006 2/8600 0/4406
1 c.1858G>A r.(?) p.(Val620Met) g.60074118C>T Copied from the Exome Variant Server RTN1_000050 2/13006 0/8600 2/4406
1 c.1944G>T r.(=) p.(=) g.60074032C>A Copied from the Exome Variant Server RTN1_000049 1/13006 1/8600 0/4406
1 c.1955A>T r.(?) p.(Asp652Val) g.60074021T>A Copied from the Exome Variant Server RTN1_000048 2/13006 2/8600 0/4406
1 c.1956C>T r.(=) p.(=) g.60074020G>A Copied from the Exome Variant Server RTN1_000047 16/13006 1/8600 15/4406
1 c.1973+22C>T r.(=) p.(=) g.60073981G>A Copied from the Exome Variant Server RTN1_000046 1/13006 0/8600 1/4406
1 c.1974-32C>T r.(=) p.(=) g.60072256G>A Copied from the Exome Variant Server RTN1_000045 2/13006 0/8600 2/4406
1 c.1974-23C>A r.(=) p.(=) g.60072247G>T Copied from the Exome Variant Server RTN1_000044 1/13006 1/8600 0/4406
1 c.2010G>A r.(=) p.(=) g.60072188C>T Copied from the Exome Variant Server RTN1_000043 2/13006 2/8600 0/4406
1 c.2027C>T r.(?) p.(Thr676Met) g.60072171G>A Copied from the Exome Variant Server RTN1_000042 1/13006 1/8600 0/4406
1 c.2112+16C>A r.(=) p.(=) g.60072070G>T Copied from the Exome Variant Server RTN1_000041 1/13006 0/8600 1/4406
1 c.2113-65A>G r.(=) p.(=) g.60070704T>C Copied from the Exome Variant Server RTN1_000040 1/4566 1/3182 0/1384
1 c.2113-23C>G r.(=) p.(=) g.60070662G>C Copied from the Exome Variant Server RTN1_000039 12/13006 6/8600 6/4406
1 c.2113-10C>T r.(=) p.(=) g.60070649G>A Copied from the Exome Variant Server RTN1_000038 7/13006 0/8600 7/4406
1 c.2121C>T r.(=) p.(=) g.60070631G>A Copied from the Exome Variant Server RTN1_000037 2/13006 1/8600 1/4406
1 c.2142C>T r.(=) p.(=) g.60070610G>A Copied from the Exome Variant Server RTN1_000036 22/13006 0/8600 22/4406
1 c.2143G>A r.(?) p.(Val715Ile) g.60070609C>T Copied from the Exome Variant Server RTN1_000035 1/13006 1/8600 0/4406
1 c.2149G>A r.(?) p.(Ala717Thr) g.60070603C>T Copied from the Exome Variant Server RTN1_000034 1/13006 1/8600 0/4406
1 c.2154C>G r.(=) p.(=) g.60070598G>C Copied from the Exome Variant Server RTN1_000033 3/13006 0/8600 3/4406
1 c.2182+21A>G r.(=) p.(=) g.60070549T>C Copied from the Exome Variant Server RTN1_000032 787/13006 718/8600 69/4406
1 c.2182+25G>A r.(=) p.(=) g.60070545C>T Copied from the Exome Variant Server RTN1_000031 56/13006 0/8600 56/4406
1 c.2182+27C>T r.(=) p.(=) g.60070543G>A Copied from the Exome Variant Server RTN1_000030 1/13006 1/8600 0/4406
1 c.2182+30C>T r.(=) p.(=) g.60070540G>A Copied from the Exome Variant Server RTN1_000029 1/13006 0/8600 1/4406
1 c.2182+39C>A r.(=) p.(=) g.60070531G>T Copied from the Exome Variant Server RTN1_000028 2/13006 2/8600 0/4406
1 c.2182+53C>A r.(=) p.(=) g.60070517G>T Copied from the Exome Variant Server RTN1_000027 2/4566 2/3182 0/1384
1 c.2182+54T>A r.(=) p.(=) g.60070516A>T Copied from the Exome Variant Server RTN1_000026 1/4566 1/3182 0/1384
1 c.2183-76del r.(=) p.(=) g.60070052del Copied from the Exome Variant Server RTN1_000025 4/12336 4/8164 0/4172
1 c.2183-67del r.(=) p.(=) g.60070043del Copied from the Exome Variant Server RTN1_000024 2/12358 0/8174 2/4184
1 c.2203C>T r.(=) p.(=) g.60069956G>A Copied from the Exome Variant Server RTN1_000023 1/13006 1/8600 0/4406
1 c.2226C>G r.(?) p.(His742Gln) g.60069933G>C Copied from the Exome Variant Server RTN1_000022 1/13006 0/8600 1/4406
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