Unique variants in gene SIGLEC8

Information The variants shown are described using the NM_014442.2 transcript reference sequence.

106 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.-17C>A r.(=) p.(=) g.51961658G>T Copied from the Exome Variant Server SIGLEC8_000106 1/12966 1/8578 0/4388
1 c.-16G>A r.(=) p.(=) g.51961657C>T Copied from the Exome Variant Server SIGLEC8_000105 2/12980 2/8588 0/4392
1 c.17_19del r.(?) p.(Leu8del) g.51961623_51961625del Copied from the Exome Variant Server SIGLEC8_000103 782/12456 502/8214 280/4242
1 c.17_19dup r.(?) p.(Leu8dup) g.51961623_51961625dup Copied from the Exome Variant Server SIGLEC8_000104 2/12456 0/8214 2/4242
1 c.21G>C r.(=) p.(=) g.51961621C>G Copied from the Exome Variant Server SIGLEC8_000102 35/12996 28/8592 7/4404
1 c.17_25del r.(?) p.(Leu6_Leu8del) g.51961617_51961625del Copied from the Exome Variant Server SIGLEC8_000101 3/12456 1/8214 2/4242
1 c.37G>C r.(?) p.(Gly13Arg) g.51961605C>G Copied from the Exome Variant Server SIGLEC8_000100 4/13006 0/8600 4/4406
1 c.66A>G r.(=) p.(=) g.51961576T>C Copied from the Exome Variant Server SIGLEC8_000099 2/13006 0/8600 2/4406
1 c.78T>C r.(=) p.(=) g.51961564A>G Copied from the Exome Variant Server SIGLEC8_000098 1/13006 1/8600 0/4406
1 c.85C>T r.(=) p.(=) g.51961557G>A Copied from the Exome Variant Server SIGLEC8_000097 1/13006 1/8600 0/4406
1 c.123G>T r.(=) p.(=) g.51961519C>A Copied from the Exome Variant Server SIGLEC8_000096 8/13006 6/8600 2/4406
1 c.138C>T r.(=) p.(=) g.51961504G>A Copied from the Exome Variant Server SIGLEC8_000095 75/13006 3/8600 72/4406
1 c.149C>T r.(?) p.(Ser50Phe) g.51961493G>A Copied from the Exome Variant Server SIGLEC8_000094 1/13006 1/8600 0/4406
1 c.228C>T r.(=) p.(=) g.51961414G>A Copied from the Exome Variant Server SIGLEC8_000093 1/13006 1/8600 0/4406
1 c.255C>G r.(?) p.(Asp85Glu) g.51961387G>C Copied from the Exome Variant Server SIGLEC8_000092 1/13006 0/8600 1/4406
1 c.258A>G r.(=) p.(=) g.51961384T>C Copied from the Exome Variant Server SIGLEC8_000091 65/13006 0/8600 65/4406
1 c.259G>A r.(?) p.(Glu87Lys) g.51961383C>T Copied from the Exome Variant Server SIGLEC8_000090 1/13006 0/8600 1/4406
1 c.284G>A r.(?) p.(Arg95Gln) g.51961358C>T Copied from the Exome Variant Server SIGLEC8_000089 5/13006 4/8600 1/4406
1 c.317del r.(?) p.(Asp106Alafs*4) g.51961325del Copied from the Exome Variant Server SIGLEC8_000088 5/12518 5/8254 0/4264
1 c.373C>T r.(?) p.(Arg125Trp) g.51961269G>A Copied from the Exome Variant Server SIGLEC8_000087 1/13006 1/8600 0/4406
1 c.385G>C r.(?) p.(Gly129Arg) g.51961257C>G Copied from the Exome Variant Server SIGLEC8_000086 16/13006 14/8600 2/4406
1 c.423C>G r.(?) p.(Tyr141*) g.51961219G>C Copied from the Exome Variant Server SIGLEC8_000085 1/13006 0/8600 1/4406
1 c.430A>C r.(?) p.(Lys144Gln) g.51961212T>G Copied from the Exome Variant Server SIGLEC8_000084 1/13006 0/8600 1/4406
1 c.454+1G>A r.spl? p.? g.51961187C>T Copied from the Exome Variant Server SIGLEC8_000083 3/13006 0/8600 3/4406
1 c.454+32G>A r.(=) p.(=) g.51961156C>T Copied from the Exome Variant Server SIGLEC8_000082 1/13006 0/8600 1/4406
1 c.455-25G>T r.(=) p.(=) g.51961018C>A Copied from the Exome Variant Server SIGLEC8_000081 1/13004 0/8600 1/4404
1 c.455-4C>T r.spl? p.? g.51960997G>A Copied from the Exome Variant Server SIGLEC8_000079 1/13006 0/8600 1/4406
1 c.473A>T r.(?) p.(Asp158Val) g.51960975T>A Copied from the Exome Variant Server SIGLEC8_000077 1/13006 0/8600 1/4406
1 c.499T>G r.(?) p.(Ser167Ala) g.51960949A>C Copied from the Exome Variant Server SIGLEC8_000075 72/13006 4/8600 68/4406
1 c.508T>C r.(?) p.(Ser170Pro) g.51960940A>G Copied from the Exome Variant Server SIGLEC8_000073 2797/13006 614/8600 2183/4406
1 c.519G>C r.(=) p.(=) g.51960929C>G Copied from the Exome Variant Server SIGLEC8_000071 3/13006 0/8600 3/4406
1 c.575T>C r.(?) p.(Ile192Thr) g.51960873A>G Copied from the Exome Variant Server SIGLEC8_000069 5/13006 1/8600 4/4406
1 c.579G>A r.(=) p.(=) g.51960869C>T Copied from the Exome Variant Server SIGLEC8_000067 5/13006 0/8600 5/4406
1 c.601C>A r.(?) p.(Pro201Thr) g.51960847G>T Copied from the Exome Variant Server SIGLEC8_000065 1/13006 0/8600 1/4406
1 c.613C>T r.(?) p.(Arg205Cys) g.51960835G>A Copied from the Exome Variant Server SIGLEC8_000063 1/13006 1/8600 0/4406
1 c.614G>A r.(?) p.(Arg205His) g.51960834C>T Copied from the Exome Variant Server SIGLEC8_000061 2/13006 0/8600 2/4406
1 c.631C>G r.(?) p.(Leu211Val) g.51960817G>C Copied from the Exome Variant Server SIGLEC8_000059 1/13006 1/8600 0/4406
1 c.637C>T r.(?) p.(Pro213Ser) g.51960811G>A Copied from the Exome Variant Server SIGLEC8_000057 1/13006 1/8600 0/4406
1 c.655G>A r.(?) p.(Gly219Ser) g.51960793C>T Copied from the Exome Variant Server SIGLEC8_000055 1/13006 0/8600 1/4406
1 c.656G>A r.(?) p.(Gly219Asp) g.51960792C>T Copied from the Exome Variant Server SIGLEC8_000053 1/13006 1/8600 0/4406
1 c.719G>A r.(?) p.(Arg240His) g.51960729C>T Copied from the Exome Variant Server SIGLEC8_000051 2/13006 1/8600 1/4406
1 c.724G>A r.(?) p.(Asp242Asn) g.51960724C>T Copied from the Exome Variant Server SIGLEC8_000080 1/13006 1/8600 0/4406
1 c.731C>T r.(?) p.(Ser244Phe) g.51960717G>A Copied from the Exome Variant Server SIGLEC8_000078 48/13006 0/8600 48/4406
1 c.733+29C>A r.(=) p.(=) g.51960686G>T Copied from the Exome Variant Server SIGLEC8_000076 1/13006 1/8600 0/4406
1 c.734-23G>T r.(=) p.(=) g.51960508C>A Copied from the Exome Variant Server SIGLEC8_000074 1/13006 0/8600 1/4406
1 c.734-21C>T r.(=) p.(=) g.51960506G>A Copied from the Exome Variant Server SIGLEC8_000072 1/13006 1/8600 0/4406
1 c.734-18C>G r.(=) p.(=) g.51960503G>C Copied from the Exome Variant Server SIGLEC8_000070 5/13006 0/8600 5/4406
1 c.734-14T>A r.(=) p.(=) g.51960499A>T Copied from the Exome Variant Server SIGLEC8_000068 1/13006 1/8600 0/4406
1 c.752C>T r.(?) p.(Thr251Ile) g.51960467G>A Copied from the Exome Variant Server SIGLEC8_000066 81/13006 3/8600 78/4406
1 c.781+29G>T r.(=) p.(=) g.51960409C>A Copied from the Exome Variant Server SIGLEC8_000064 4/13006 4/8600 0/4406
1 c.781+47C>T r.(=) p.(=) g.51960391G>A Copied from the Exome Variant Server SIGLEC8_000062 1/13006 0/8600 1/4406
1 c.781+49C>T r.(=) p.(=) g.51960389G>A Copied from the Exome Variant Server SIGLEC8_000060 1/13006 0/8600 1/4406
1 c.781+72C>T r.(=) p.(=) g.51960366G>A Copied from the Exome Variant Server SIGLEC8_000058 6/4566 0/3182 6/1384
1 c.781+76C>T r.(=) p.(=) g.51960362G>A Copied from the Exome Variant Server SIGLEC8_000056 1/4566 1/3182 0/1384
1 c.782-40T>C r.(=) p.(=) g.51958981A>G Copied from the Exome Variant Server SIGLEC8_000054 1/13006 1/8600 0/4406
1 c.782-31A>G r.(=) p.(=) g.51958972T>C Copied from the Exome Variant Server SIGLEC8_000052 2/13006 2/8600 0/4406
1 c.782-30T>C r.(=) p.(=) g.51958971A>G Copied from the Exome Variant Server SIGLEC8_000050 28/13006 28/8600 0/4406
1 c.782-12_782-11del r.(=) p.(=) g.51958952_51958953del Copied from the Exome Variant Server SIGLEC8_000049 2/12518 0/8254 2/4264
1 c.861C>T r.(=) p.(=) g.51958862G>A Copied from the Exome Variant Server SIGLEC8_000048 1/13006 0/8600 1/4406
1 c.886A>G r.(?) p.(Thr296Ala) g.51958837T>C Copied from the Exome Variant Server SIGLEC8_000047 2/13006 0/8600 2/4406
1 c.891G>A r.(=) p.(=) g.51958832C>T Copied from the Exome Variant Server SIGLEC8_000046 2/13006 1/8600 1/4406
1 c.958G>A r.(?) p.(Val320Met) g.51958765C>T Copied from the Exome Variant Server SIGLEC8_000045 1/13006 0/8600 1/4406
1 c.959T>C r.(?) p.(Val320Ala) g.51958764A>G Copied from the Exome Variant Server SIGLEC8_000044 1/13006 0/8600 1/4406
1 c.985C>T r.(?) p.(Arg329*) g.51958738G>A Copied from the Exome Variant Server SIGLEC8_000043 4/13006 3/8600 1/4406
1 c.986G>A r.(?) p.(Arg329Gln) g.51958737C>T Copied from the Exome Variant Server SIGLEC8_000042 2/13006 2/8600 0/4406
1 c.1049C>T r.(?) p.(Thr350Ile) g.51958674G>A Copied from the Exome Variant Server SIGLEC8_000041 1/13006 1/8600 0/4406
1 c.1051+26_1051+28del r.(=) p.(=) g.51958644_51958646del Copied from the Exome Variant Server SIGLEC8_000040 80/12518 4/8254 76/4264
1 c.1092C>T r.(=) p.(=) g.51957994G>A Copied from the Exome Variant Server SIGLEC8_000039 2/13006 0/8600 2/4406
1 c.1099G>A r.(?) p.(Ala367Thr) g.51957987C>T Copied from the Exome Variant Server SIGLEC8_000038 3/13006 0/8600 3/4406
1 c.1102G>A r.(?) p.(Gly368Arg) g.51957984C>T Copied from the Exome Variant Server SIGLEC8_000037 1/13006 0/8600 1/4406
1 c.1148+12C>T r.(=) p.(=) g.51957926G>A Copied from the Exome Variant Server SIGLEC8_000036 1/13006 1/8600 0/4406
1 c.1148+14C>T r.(=) p.(=) g.51957924G>A Copied from the Exome Variant Server SIGLEC8_000035 1/13006 0/8600 1/4406
1 c.1148+33C>T r.(=) p.(=) g.51957905G>A Copied from the Exome Variant Server SIGLEC8_000034 1/13006 0/8600 1/4406
1 c.1148+35T>C r.(=) p.(=) g.51957903A>G Copied from the Exome Variant Server SIGLEC8_000033 2/13006 0/8600 2/4406
1 c.1149-44C>T r.(=) p.(=) g.51957613G>A Copied from the Exome Variant Server SIGLEC8_000032 1/13004 0/8598 1/4406
1 c.1149-41G>A r.(=) p.(=) g.51957610C>T Copied from the Exome Variant Server SIGLEC8_000031 2/13002 1/8596 1/4406
1 c.1162A>G r.(?) p.(Arg388Gly) g.51957556T>C Copied from the Exome Variant Server SIGLEC8_000030 4454/13006 2089/8600 2365/4406
1 c.1174G>A r.(?) p.(Ala392Thr) g.51957544C>T Copied from the Exome Variant Server SIGLEC8_000029 1/13006 0/8600 1/4406
1 c.1190G>A r.(?) p.(Gly397Asp) g.51957528C>T Copied from the Exome Variant Server SIGLEC8_000028 1/13006 0/8600 1/4406
1 c.1192G>A r.(?) p.(Val398Met) g.51957526C>T Copied from the Exome Variant Server SIGLEC8_000027 1/13006 1/8600 0/4406
1 c.1194G>C r.(=) p.(=) g.51957524C>G Copied from the Exome Variant Server SIGLEC8_000026 2/13006 0/8600 2/4406
1 c.1206C>A r.(=) p.(=) g.51957512G>T Copied from the Exome Variant Server SIGLEC8_000025 8/13006 0/8600 8/4406
1 c.1225A>G r.(?) p.(Ile409Val) g.51957493T>C Copied from the Exome Variant Server SIGLEC8_000024 25/13006 0/8600 25/4406
1 c.1236G>A r.(=) p.(=) g.51957482C>T Copied from the Exome Variant Server SIGLEC8_000023 353/13006 325/8600 28/4406
1 c.1239C>T r.(=) p.(=) g.51957479G>A Copied from the Exome Variant Server SIGLEC8_000022 1/13006 0/8600 1/4406
1 c.1244A>G r.(?) p.(Gln415Arg) g.51957474T>C Copied from the Exome Variant Server SIGLEC8_000021 1/13006 1/8600 0/4406
1 c.1245+12G>A r.(=) p.(=) g.51957461C>T Copied from the Exome Variant Server SIGLEC8_000020 1/13006 1/8600 0/4406
1 c.1245+26C>A r.(=) p.(=) g.51957447G>T Copied from the Exome Variant Server SIGLEC8_000019 1/13006 1/8600 0/4406
1 c.1245+27G>C r.(=) p.(=) g.51957446C>G Copied from the Exome Variant Server SIGLEC8_000018 3/13006 1/8600 2/4406
1 c.1246G>A r.(?) p.(Gly416Arg) g.51955887C>T Copied from the Exome Variant Server SIGLEC8_000016 1/12948 1/8580 0/4368
1 c.1293T>G r.(=) p.(=) g.51955840A>C Copied from the Exome Variant Server SIGLEC8_000014 191/13006 3/8600 188/4406
1 c.1313C>T r.(?) p.(Ser438Leu) g.51955820G>A Copied from the Exome Variant Server SIGLEC8_000017 15/13006 0/8600 15/4406
1 c.1335C>T r.(=) p.(=) g.51955798G>A Copied from the Exome Variant Server SIGLEC8_000015 2/13006 0/8600 2/4406
1 c.1380G>T r.(=) p.(=) g.51955753C>A Copied from the Exome Variant Server SIGLEC8_000013 1/13006 0/8600 1/4406
1 c.1401C>T r.(=) p.(=) g.51955732G>A Copied from the Exome Variant Server SIGLEC8_000012 1/13006 1/8600 0/4406
1 c.1412C>T r.(?) p.(Ser471Leu) g.51955721G>A Copied from the Exome Variant Server SIGLEC8_000011 1/13006 0/8600 1/4406
1 c.1413G>A r.(=) p.(=) g.51955720C>T Copied from the Exome Variant Server SIGLEC8_000010 1/13006 0/8600 1/4406
1 c.1414G>A r.(?) p.(Glu472Lys) g.51955719C>T Copied from the Exome Variant Server SIGLEC8_000009 1/13006 0/8600 1/4406
1 c.1432C>T r.(?) p.(Arg478*) g.51955701G>A Copied from the Exome Variant Server SIGLEC8_000008 1/13006 1/8600 0/4406
1 c.1461G>A r.(=) p.(=) g.51955672C>T Copied from the Exome Variant Server SIGLEC8_000007 1/13006 0/8600 1/4406
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