Unique variants in gene RNASEL

Information The variants shown are described using the NM_021133.3 transcript reference sequence.

117 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.3G>A r.? p.? g.182555939C>T Copied from the Exome Variant Server RNASEL_000116 4/13004 0/8598 4/4406
1 c.65C>A r.(?) p.(Ala22Glu) g.182555877G>T Copied from the Exome Variant Server RNASEL_000115 2/13006 0/8600 2/4406
1 c.84G>A r.(=) p.(=) g.182555858C>T Copied from the Exome Variant Server RNASEL_000114 1/13006 1/8600 0/4406
1 c.149A>G r.(?) p.(Asn50Ser) g.182555793T>C Copied from the Exome Variant Server RNASEL_000113 1/13006 1/8600 0/4406
1 c.175G>A r.(?) p.(Gly59Ser) g.182555767C>T Copied from the Exome Variant Server RNASEL_000112 38/13006 33/8600 5/4406
1 c.184C>T r.(?) p.(Pro62Ser) g.182555758G>A Copied from the Exome Variant Server RNASEL_000111 3/13006 3/8600 0/4406
1 c.195C>T r.(=) p.(=) g.182555747G>A Copied from the Exome Variant Server RNASEL_000110 3/13006 0/8600 3/4406
1 c.255T>C r.(=) p.(=) g.182555687A>G Copied from the Exome Variant Server RNASEL_000109 3/13006 0/8600 3/4406
1 c.272A>G r.(?) p.(Asn91Ser) g.182555670T>C Copied from the Exome Variant Server RNASEL_000108 2/13006 2/8600 0/4406
1 c.281C>T r.(?) p.(Thr94Met) g.182555661G>A Copied from the Exome Variant Server RNASEL_000107 2/13006 1/8600 1/4406
1 c.289A>C r.(?) p.(Ile97Leu) g.182555653T>G Copied from the Exome Variant Server RNASEL_000106 87/13006 79/8600 8/4406
1 c.292C>A r.(?) p.(Leu98Ile) g.182555650G>T Copied from the Exome Variant Server RNASEL_000117 1/13006 0/8600 1/4406
1 c.302T>C r.(?) p.(Ile101Thr) g.182555640A>G Copied from the Exome Variant Server RNASEL_000103 4/13006 4/8600 0/4406
1 c.339T>C r.(=) p.(=) g.182555603A>G Copied from the Exome Variant Server RNASEL_000100 118/13006 1/8600 117/4406
1 c.351T>C r.(=) p.(=) g.182555591A>G Copied from the Exome Variant Server RNASEL_000098 6/13006 0/8600 6/4406
1 c.354C>T r.(=) p.(=) g.182555588G>A Copied from the Exome Variant Server RNASEL_000096 39/13006 38/8600 1/4406
1 c.384C>G r.(=) p.(=) g.182555558G>C Copied from the Exome Variant Server RNASEL_000094 1/13006 1/8600 0/4406
1 c.460A>G r.(?) p.(Arg154Gly) g.182555482T>C Copied from the Exome Variant Server RNASEL_000092 1/13006 1/8600 0/4406
1 c.471_474del r.(?) p.(Lys158Argfs*6) g.182555468_182555471del Copied from the Exome Variant Server RNASEL_000091 2/12516 2/8252 0/4264
1 c.523G>T r.(?) p.(Ala175Ser) g.182555419C>A Copied from the Exome Variant Server RNASEL_000089 1/13006 0/8600 1/4406
1 c.583G>A r.(?) p.(Val195Ile) g.182555359C>T Copied from the Exome Variant Server RNASEL_000087 1/13006 0/8600 1/4406
1 c.615C>G r.(=) p.(=) g.182555327G>C Copied from the Exome Variant Server RNASEL_000084 1/13006 1/8600 0/4406
1 c.626C>G r.(?) p.(Ala209Gly) g.182555316G>C Copied from the Exome Variant Server RNASEL_000105 1/13006 1/8600 0/4406
1 c.642C>T r.(=) p.(=) g.182555300G>A Copied from the Exome Variant Server RNASEL_000104 1/13006 0/8600 1/4406
1 c.643G>A r.(?) p.(Asp215Asn) g.182555299C>T Copied from the Exome Variant Server RNASEL_000102 1/13006 0/8600 1/4406
1 c.644A>G r.(?) p.(Asp215Gly) g.182555298T>C Copied from the Exome Variant Server RNASEL_000101 1/13006 1/8600 0/4406
1 c.661A>G r.(?) p.(Ile221Val) g.182555281T>C Copied from the Exome Variant Server RNASEL_000099 1/13006 0/8600 1/4406
1 c.666G>A r.(=) p.(=) g.182555276C>T Copied from the Exome Variant Server RNASEL_000097 18/13006 1/8600 17/4406
1 c.671T>C r.(?) p.(Leu224Pro) g.182555271A>G Copied from the Exome Variant Server RNASEL_000095 1/13006 0/8600 1/4406
1 c.715G>A r.(?) p.(Gly239Arg) g.182555227C>T Copied from the Exome Variant Server RNASEL_000093 1/13006 0/8600 1/4406
1 c.773T>A r.(?) p.(Leu258His) g.182555169A>T Copied from the Exome Variant Server RNASEL_000090 6/13006 0/8600 6/4406
1 c.793G>T r.(?) p.(Glu265*) g.182555149C>A Copied from the Exome Variant Server RNASEL_000088 42/13006 36/8600 6/4406
1 c.827C>T r.(?) p.(Ala276Val) g.182555115G>A Copied from the Exome Variant Server RNASEL_000086 1/13006 1/8600 0/4406
1 c.853C>A r.(?) p.(Leu285Met) g.182555089G>T Copied from the Exome Variant Server RNASEL_000085 1/13006 1/8600 0/4406
1 c.880A>G r.(?) p.(Lys294Glu) g.182555062T>C Copied from the Exome Variant Server RNASEL_000083 24/13006 0/8600 24/4406
1 c.901T>G r.(?) p.(Cys301Gly) g.182555041A>C Copied from the Exome Variant Server RNASEL_000082 1/13006 0/8600 1/4406
1 c.924G>A r.(=) p.(=) g.182555018C>T Copied from the Exome Variant Server RNASEL_000081 1/13006 0/8600 1/4406
1 c.933T>C r.(=) p.(=) g.182555009A>G Copied from the Exome Variant Server RNASEL_000080 1/13006 1/8600 0/4406
1 c.953A>C r.(?) p.(Lys318Thr) g.182554989T>G Copied from the Exome Variant Server RNASEL_000079 1/13006 0/8600 1/4406
1 c.970G>A r.(?) p.(Gly324Arg) g.182554972C>T Copied from the Exome Variant Server RNASEL_000078 1/13006 0/8600 1/4406
1 c.976A>G r.(?) p.(Lys326Glu) g.182554966T>C Copied from the Exome Variant Server RNASEL_000077 1/13006 0/8600 1/4406
1 c.1044G>C r.(?) p.(Lys348Asn) g.182554898C>G Copied from the Exome Variant Server RNASEL_000076 1/13006 1/8600 0/4406
1 c.1063C>T r.(?) p.(Arg355Cys) g.182554879G>A Copied from the Exome Variant Server RNASEL_000075 1/13006 1/8600 0/4406
1 c.1069A>G r.(?) p.(Met357Val) g.182554873T>C Copied from the Exome Variant Server RNASEL_000074 2/13006 0/8600 2/4406
1 c.1072A>T r.(?) p.(Ile358Phe) g.182554870T>A Copied from the Exome Variant Server RNASEL_000073 1/13006 1/8600 0/4406
1 c.1082T>C r.(?) p.(Leu361Pro) g.182554860A>G Copied from the Exome Variant Server RNASEL_000072 1/13006 0/8600 1/4406
1 c.1133G>A r.(?) p.(Gly378Asp) g.182554809C>T Copied from the Exome Variant Server RNASEL_000071 1/13006 1/8600 0/4406
1 c.1176G>T r.(?) p.(Lys392Asn) g.182554766C>A Copied from the Exome Variant Server RNASEL_000070 2/13006 0/8600 2/4406
1 c.1179G>A r.(=) p.(=) g.182554763C>T Copied from the Exome Variant Server RNASEL_000069 66/13006 58/8600 8/4406
1 c.1198C>T r.(?) p.(Arg400Cys) g.182554744G>A Copied from the Exome Variant Server RNASEL_000068 1/13006 1/8600 0/4406
1 c.1199G>C r.(?) p.(Arg400Pro) g.182554743C>G Copied from the Exome Variant Server RNASEL_000067 7/13006 7/8600 0/4406
1 c.1208G>A r.(?) p.(Arg403Gln) g.182554734C>T Copied from the Exome Variant Server RNASEL_000066 1/13006 1/8600 0/4406
1 c.1213G>A r.(?) p.(Val405Ile) g.182554729C>T Copied from the Exome Variant Server RNASEL_000065 1/13006 0/8600 1/4406
1 c.1217C>T r.(?) p.(Ser406Phe) g.182554725G>A Copied from the Exome Variant Server RNASEL_000064 2/13006 2/8600 0/4406
1 c.1220G>A r.(?) p.(Cys407Tyr) g.182554722C>T Copied from the Exome Variant Server RNASEL_000063 1/13006 1/8600 0/4406
1 c.1234C>G r.(?) p.(Arg412Gly) g.182554708G>C Copied from the Exome Variant Server RNASEL_000062 1/13006 0/8600 1/4406
1 c.1242C>T r.(=) p.(=) g.182554700G>A Copied from the Exome Variant Server RNASEL_000061 35/13006 0/8600 35/4406
1 c.1308C>T r.(=) p.(=) g.182554634G>A Copied from the Exome Variant Server RNASEL_000060 1/13006 1/8600 0/4406
1 c.1317G>A r.(=) p.(=) g.182554625C>T Copied from the Exome Variant Server RNASEL_000059 2/13006 2/8600 0/4406
1 c.1354G>T r.(?) p.(Asp452Tyr) g.182554588C>A Copied from the Exome Variant Server RNASEL_000058 1/13006 1/8600 0/4406
1 c.1385G>A r.(?) p.(Arg462Gln) g.182554557C>T Copied from the Exome Variant Server RNASEL_000056 3652/13006 3065/8600 587/4406
1 c.1480+12A>G r.(=) p.(=) g.182554450T>C Copied from the Exome Variant Server RNASEL_000054 1/13006 0/8600 1/4406
1 c.1480+36G>A r.(=) p.(=) g.182554426C>T Copied from the Exome Variant Server RNASEL_000052 18/13006 0/8600 18/4406
1 c.1481-37G>A r.(=) p.(=) g.182553338C>T Copied from the Exome Variant Server RNASEL_000050 2/13004 2/8598 0/4406
1 c.1515T>C r.(=) p.(=) g.182553267A>G Copied from the Exome Variant Server RNASEL_000048 1/13006 0/8600 1/4406
1 c.1534G>A r.(?) p.(Gly512Arg) g.182553248C>T Copied from the Exome Variant Server RNASEL_000046 1/13006 1/8600 0/4406
1 c.1542A>G r.(=) p.(=) g.182553240T>C Copied from the Exome Variant Server RNASEL_000044 1/13006 0/8600 1/4406
1 c.1566+39T>C r.(=) p.(=) g.182553177A>G Copied from the Exome Variant Server RNASEL_000042 1/13006 1/8600 0/4406
1 c.1567-26T>C r.(=) p.(=) g.182551419A>G Copied from the Exome Variant Server RNASEL_000040 1/13004 1/8598 0/4406
1 c.1567-9T>C r.(=) p.(=) g.182551402A>G Copied from the Exome Variant Server RNASEL_000038 1/13006 1/8600 0/4406
1 c.1576C>T r.(?) p.(Arg526Trp) g.182551384G>A Copied from the Exome Variant Server RNASEL_000036 1/13006 1/8600 0/4406
1 c.1577G>A r.(?) p.(Arg526Gln) g.182551383C>T Copied from the Exome Variant Server RNASEL_000034 1/13006 1/8600 0/4406
1 c.1582G>A r.(?) p.(Val528Ile) g.182551378C>T Copied from the Exome Variant Server RNASEL_000057 1/13006 0/8600 1/4406
1 c.1596A>G r.(=) p.(=) g.182551364T>C Copied from the Exome Variant Server RNASEL_000055 4/13006 4/8600 0/4406
1 c.1607G>A r.(?) p.(Ser536Asn) g.182551353C>T Copied from the Exome Variant Server RNASEL_000053 1/13006 0/8600 1/4406
1 c.1609A>G r.(?) p.(Ile537Val) g.182551351T>C Copied from the Exome Variant Server RNASEL_000051 3/13006 3/8600 0/4406
1 c.1623T>G r.(?) p.(Asp541Glu) g.182551337A>C Copied from the Exome Variant Server RNASEL_000049 6141/13006 4690/8600 1451/4406
1 c.1631C>A r.(?) p.(Ala544Asp) g.182551329G>T Copied from the Exome Variant Server RNASEL_000047 5/13006 0/8600 5/4406
1 c.1662T>A r.(=) p.(=) g.182551298A>T Copied from the Exome Variant Server RNASEL_000045 1/13006 1/8600 0/4406
1 c.1694G>A r.(?) p.(Arg565His) g.182551266C>T Copied from the Exome Variant Server RNASEL_000043 9/13006 0/8600 9/4406
1 c.1717G>A r.(?) p.(Val573Met) g.182551243C>T Copied from the Exome Variant Server RNASEL_000041 2/13006 2/8600 0/4406
1 c.1773-30T>C r.(=) p.(=) g.182550522A>G Copied from the Exome Variant Server RNASEL_000039 2/13006 0/8600 2/4406
1 c.1773-27T>C r.(=) p.(=) g.182550519A>G Copied from the Exome Variant Server RNASEL_000037 2/13006 0/8600 2/4406
1 c.1773-12A>G r.(=) p.(=) g.182550504T>C Copied from the Exome Variant Server RNASEL_000035 1/13006 0/8600 1/4406
1 c.1790G>A r.(?) p.(Arg597Gln) g.182550475C>T Copied from the Exome Variant Server RNASEL_000033 1/13006 1/8600 0/4406
1 c.1802A>G r.(?) p.(Asn601Ser) g.182550463T>C Copied from the Exome Variant Server RNASEL_000032 1/13006 0/8600 1/4406
1 c.1809C>T r.(=) p.(=) g.182550456G>A Copied from the Exome Variant Server RNASEL_000031 1/13006 1/8600 0/4406
1 c.1810G>A r.(?) p.(Asp604Asn) g.182550455C>T Copied from the Exome Variant Server RNASEL_000030 2/13006 0/8600 2/4406
1 c.1833A>C r.(?) p.(Glu611Asp) g.182550432T>G Copied from the Exome Variant Server RNASEL_000029 1/13006 0/8600 1/4406
1 c.1840A>G r.(?) p.(Ile614Val) g.182550425T>C Copied from the Exome Variant Server RNASEL_000028 1/13006 1/8600 0/4406
1 c.1847G>C r.(?) p.(Arg616Thr) g.182550418C>G Copied from the Exome Variant Server RNASEL_000026 3/13006 0/8600 3/4406
1 c.1880A>G r.(?) p.(Lys627Arg) g.182550385T>C Copied from the Exome Variant Server RNASEL_000024 11/13006 10/8600 1/4406
1 c.1905+11T>C r.(=) p.(=) g.182550349A>G Copied from the Exome Variant Server RNASEL_000022 2/13006 0/8600 2/4406
1 c.1905+15T>C r.(=) p.(=) g.182550345A>G Copied from the Exome Variant Server RNASEL_000020 28/13006 0/8600 28/4406
1 c.1906-37T>G r.(=) p.(=) g.182545561A>C Copied from the Exome Variant Server RNASEL_000017 10/12878 8/8542 2/4336
1 c.1906-33A>G r.(=) p.(=) g.182545557T>C Copied from the Exome Variant Server RNASEL_000015 8/12910 8/8552 0/4358
1 c.1906-12T>C r.(=) p.(=) g.182545536A>G Copied from the Exome Variant Server RNASEL_000013 12/12972 6/8588 6/4384
1 c.1996A>G r.(?) p.(Ile666Val) g.182545434T>C Copied from the Exome Variant Server RNASEL_000027 1/12998 0/8592 1/4406
1 c.1999C>T r.(?) p.(Arg667Trp) g.182545431G>A Copied from the Exome Variant Server RNASEL_000025 1/12998 1/8592 0/4406
1 c.2018T>C r.(?) p.(Ile673Thr) g.182545412A>G Copied from the Exome Variant Server RNASEL_000023 3/12998 0/8592 3/4406
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