Full data view for gene FBLN5

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

52 entries on 1 page. Showing entries 1 - 52.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.-172del r.(=) p.(=) Unknown g.92413745del - FBLN5_000052 rs140759267 0.018 9 512 1892 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.17+158T>A r.(=) p.(=) Unknown g.92413399A>T - FBLN5_000051 rs75301896 0.018 9 512 1892 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.17+335T>G r.(=) p.(=) Unknown g.92413222A>C - FBLN5_000050 rs117567118 0.05 26 516 5710 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.17+515T>C r.(=) p.(=) Unknown g.92413042A>G - FBLN5_000049 rs75495358 0.003876 2 516 5388 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.18-87G>A r.(=) p.(=) Unknown g.92409392C>T - FBLN5_000048 rs10135192 0.014 7 514 1823 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.18-28A>G r.(=) p.(=) Unknown g.92409333T>C - FBLN5_000047 rs17127768 0.074 38 516 3812 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.72+26T>A r.(=) p.(=) Unknown g.92409225A>T - FBLN5_000046 rs113167395 0.012 6 516 2731 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.72+148A>G r.(=) p.(=) Unknown g.92409103T>C - FBLN5_000045 rs8014548 0.044 19 428 534 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.72+714A>G r.(=) p.(=) Unknown g.92408537T>C - FBLN5_000044 rs143952986 0.003876 2 516 6412 2 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.72+755A>G r.(=) p.(=) Unknown g.92408496T>C - FBLN5_000043 - 0.001938 1 516 7980 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.72+942T>C r.(=) p.(=) Unknown g.92408309A>G - FBLN5_000042 rs13379081 0.091 47 516 5785 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.124+63A>C r.(=) p.(=) Unknown g.92406846T>G - FBLN5_000041 rs115356172 0.003876 2 516 5464 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.124+123T>C r.(=) p.(=) Unknown g.92406786A>G - FBLN5_000040 rs74071638 0.003876 2 516 5402 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.124+570G>A r.(=) p.(=) Unknown g.92406339C>T - FBLN5_000039 rs60302087 0.003922 2 510 1833 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.124+588T>C r.(=) p.(=) Unknown g.92406321A>G - FBLN5_000038 - 0.001946 1 514 2110 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.125-115A>G r.(=) p.(=) Unknown g.92403660T>C - FBLN5_000037 rs2474028 0.594 302 508 2983 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.125-88C>T r.(=) p.(=) Unknown g.92403633G>A - FBLN5_000036 rs369796145 0.001938 1 516 3914 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.125-45G>C r.(=) p.(=) Unknown g.92403590C>G - FBLN5_000035 rs60910640 0.003876 2 516 6983 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.125-39_125-38insT r.(=) p.(=) Unknown g.92403583_92403584insA - FBLN5_000034 - - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.143C>T r.(?) p.(Thr48Ile) Unknown g.92403527G>A - FBLN5_000033 rs141200859 0.001938 1 516 9277 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.376G>A r.(?) p.(Val126Met) Unknown g.92403294C>T - FBLN5_000032 rs61734479 0.005814 3 516 8263 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.380-57G>A r.(=) p.(=) Unknown g.92361473C>T - FBLN5_000031 - 0.001938 1 516 3669 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.502+45G>A r.(=) p.(=) Unknown g.92361249C>T - FBLN5_000030 rs74071608 0.001938 1 516 5229 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.502+66G>A r.(=) p.(=) Unknown g.92361228C>T - FBLN5_000029 rs150039638 0.003876 2 516 3652 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.502+69T>C r.(=) p.(=) Unknown g.92361225A>G - FBLN5_000028 rs186998734 0.003876 2 516 3426 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.502+116A>G r.(=) p.(=) Unknown g.92361178T>C - FBLN5_000027 rs946704942 0.023 8 352 889 4 2 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.502+120C>G r.(=) p.(=) Unknown g.92361174G>C - FBLN5_000026 rs111704831 0.046 13 282 671 5 4 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.502+124A>G r.(=) p.(=) Unknown g.92361170T>C - FBLN5_000025 rs988140707 0.083 22 264 574 10 6 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.502+128_502+129insG r.(=) p.(=) Unknown g.92361165_92361166insC - FBLN5_000024 rs1278144609 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.503-141A>C r.(=) p.(=) Unknown g.92357822T>G - FBLN5_000023 - 0.001938 1 516 3387 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.503-79C>T r.(=) p.(=) Unknown g.92357760G>A - FBLN5_000022 - 0.001938 1 516 6324 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.503-15C>T r.(=) p.(=) Unknown g.92357696G>A - FBLN5_000021 rs913136472 0.003876 2 516 8922 2 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.604G>A r.(?) p.(Gly202Arg) Unknown g.92357580C>T - FBLN5_000020 rs80338765 0.001938 1 516 8489 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.619+10G>A r.(=) p.(=) Unknown g.92357555C>T - FBLN5_000019 rs370854347 0.001938 1 516 7495 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.620-135C>T r.(=) p.(=) Unknown g.92353791G>A - FBLN5_000018 rs78277125 0.035 18 516 5681 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.620-8T>C r.(=) p.(=) Unknown g.92353664A>G - FBLN5_000017 rs147699855 0.003876 2 516 9204 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.739+125C>G r.(=) p.(=) Unknown g.92353412G>C - FBLN5_000016 rs116467689 0.012 6 514 2598 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.740-52C>T r.(=) p.(=) Unknown g.92349472G>A - FBLN5_000015 rs75974376 0.017 9 516 9058 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.863-61C>T r.(=) p.(=) Unknown g.92347823G>A - FBLN5_000014 rs145627775 0.003876 2 516 3624 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.863-13C>T r.(=) p.(=) Unknown g.92347775G>A - FBLN5_000013 rs74071606 0.003876 2 516 6776 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.945T>C r.(=) p.(=) Unknown g.92347680A>G - FBLN5_000012 rs2430347 0.783 404 516 12637 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.989+13G>A r.(=) p.(=) Unknown g.92347623C>T - FBLN5_000011 rs74071605 0.003876 2 516 7745 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.990-274T>C r.(=) p.(=) Unknown g.92344300A>G - FBLN5_000010 rs2498847 0.407 210 516 3970 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.990-223A>C r.(=) p.(=) Unknown g.92344249T>G - FBLN5_000009 rs10147178 0.136 70 516 6973 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.990-218A>G r.(=) p.(=) Unknown g.92344244T>C - FBLN5_000008 rs2430342 0.411 212 516 7458 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1122C>T r.(=) p.(=) Unknown g.92343894G>A - FBLN5_000007 rs145515678 0.027 14 516 6806 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1185+18_1185+24del r.(=) p.(=) Unknown g.92343807_92343813del - FBLN5_000006 rs756383448 0.957 494 516 4754 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1185+67G>A r.(=) p.(=) Unknown g.92343764C>T - FBLN5_000005 rs2430341 0.957 494 516 4754 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1186-46A>G r.(=) p.(=) Unknown g.92336775T>C - FBLN5_000004 rs929608 0.403 200 496 1403 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1186-3T>C r.spl? p.? Unknown g.92336732A>G - FBLN5_000003 rs111561173 0.001946 1 514 2259 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*97G>A r.(=) p.(=) Unknown g.92336471C>T - FBLN5_000002 rs776547073 0.001938 1 516 6856 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*121C>T r.(=) p.(=) Unknown g.92336447G>A - FBLN5_000001 rs548351890 0.001938 1 516 6239 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
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