Unique variants in gene FBLN5

Information The variants shown are described using the NM_006329.3 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 - c.18-86G>A - - g.91943047C>T dbSNP FBLN5_000042 0.023 Admin
./. 1 - c.72+149T>C - - g.91942758A>G dbSNP FBLN5_000041 0.170 Admin
./. 1 - c.73-732G>A r.(=) p.(=) g.91941348C>T dbSNP FBLN5_000040 0.229 Admin
./. 1 - c.73-500T>G - - g.91941116A>C dbSNP FBLN5_000039 0.083 Admin
./. 1 - c.379+560T>C - - g.91936387A>G dbSNP FBLN5_000038 0.275 Admin
./. 1 - c.379+1658T>C r.(=) p.(=) g.91935289A>G dbSNP FBLN5_000037 0.373 Admin
./. 1 - c.379+1892T>C - - g.91935055A>G dbSNP FBLN5_000036 0.023 Admin
./. 1 - c.379+6417G>C - - g.91930530C>G dbSNP FBLN5_000035 0.064 Admin
./. 1 - c.379+6542G>C r.(=) p.(=) g.91930405C>G dbSNP FBLN5_000034 0.184 Admin
./. 1 - c.379+6692G>A r.(=) p.(=) g.91930255C>T dbSNP FBLN5_000033 0.239 Admin
./. 1 - c.379+8466T>C - - g.91928481A>G dbSNP FBLN5_000032 0.572 Admin
./. 1 - c.379+8982T>C - - g.91927965A>G dbSNP FBLN5_000031 0.936 Admin
./. 1 - c.379+9120T>C - - g.91927827A>G dbSNP FBLN5_000030 0.676 Admin
./. 1 - c.379+12672G>A - - g.91924275C>T dbSNP FBLN5_000029 0.693 Admin
./. 1 - c.379+13827T>C r.(=) p.(=) g.91923120A>G dbSNP FBLN5_000028 0.970 Admin
./. 1 - c.379+13920T>C r.(=) p.(=) g.91923027A>G dbSNP FBLN5_000027 0.765 Admin
./. 1 - c.379+14245T>C - - g.91922702A>G dbSNP FBLN5_000026 0.634 Admin
./. 1 - c.379+14983T>G r.(=) p.(=) g.91921964A>C dbSNP FBLN5_000025 0.777 Admin
./. 1 - c.379+15000G>A - - g.91921947C>T dbSNP FBLN5_000024 0.676 Admin
./. 1 - c.379+19293T>C - - g.91917654A>G dbSNP FBLN5_000023 0.330 Admin
./. 1 - c.380-9724G>A - - g.91904796C>T dbSNP FBLN5_000022 0.479 Admin
./. 1 - c.380-9477T>A - - g.91904549A>T dbSNP FBLN5_000021 0.777 Admin
./. 1 - c.380-8998G>A r.(=) p.(=) g.91904070C>T dbSNP FBLN5_000020 0.044 Admin
./. 1 - c.380-8175G>A - - g.91903247C>T dbSNP FBLN5_000019 0.259 Admin
./. 1 - c.380-7818G>C - - g.91902890C>G dbSNP FBLN5_000018 0.689 Admin
./. 1 - c.380-2369G>A r.(=) p.(=) g.91897441C>T dbSNP FBLN5_000017 0.616 Admin
./. 1 - c.380-1010G>A - - g.91896082C>T dbSNP FBLN5_000016 0.119 Admin
./. 1 - c.380-846C>A - - g.91895918G>T dbSNP FBLN5_000015 0.350 Admin
./. 1 - c.619+329G>C - - g.91890892C>G dbSNP FBLN5_000014 0.193 Admin
./. 1 - c.619+421G>A r.(=) p.(=) g.91890800C>T dbSNP FBLN5_000013 0.188 Admin
./. 1 - c.620-1460T>G r.(=) p.(=) g.91888772A>C dbSNP FBLN5_000012 0.752 Admin
./. 1 - c.739+1424T>C - - g.91885769A>G dbSNP FBLN5_000011 0.280 Admin
./. 1 - c.739+1886T>A r.(=) p.(=) g.91885307A>T dbSNP FBLN5_000010 0.271 Admin
./. 1 - c.739+1951T>G r.(=) p.(=) g.91885242A>C dbSNP FBLN5_000009 0.737 Admin
./. 1 - c.740-1296G>C - - g.91884372C>G dbSNP FBLN5_000008 0.019 Admin
./. 1 - c.989+292T>G r.(=) p.(=) g.91881000A>C dbSNP FBLN5_000007 0.271 Admin
./. 1 - c.990-273T>C - - g.91877955A>G dbSNP FBLN5_000006 0.407 Admin
./. 1 - c.1185+1247G>C r.(=) p.(=) g.91876240C>G dbSNP FBLN5_000005 0.259 Admin
./. 1 - c.1185+1390G>A - - g.91876097C>T dbSNP FBLN5_000004 0.040 Admin
./. 1 - c.1186-1612G>A - - g.91871997C>T dbSNP FBLN5_000003 0.312 Admin
./. 1 - c.1186-1147G>A r.(=) p.(=) g.91871532C>T dbSNP FBLN5_000002 0.436 Admin
./. 1 - c.1186-1044T>C - - g.91871429A>G dbSNP FBLN5_000001 0.797 Admin
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