All transcript variants in gene FBLIM1

Information The variants shown are described using the NM_001024215.1 transcript reference sequence.

75 entries on 1 page. Showing entries 1 - 75.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-20-32C>A r.(=) p.(=) g.16091427C>A Copied from the Exome Variant Server FBLIM1_000001 1/5734 1/3982 0/1752
?/? c.-20-17del r.(=) p.(=) g.16091442del Copied from the Exome Variant Server FBLIM1_000002 63/12520 36/8254 27/4266
?/? c.-20-8G>A r.(=) p.(=) g.16091451G>A Copied from the Exome Variant Server FBLIM1_000003 1/13006 0/8600 1/4406
?/? c.32C>T r.(?) p.(Ser11Leu) g.16091510C>T Copied from the Exome Variant Server FBLIM1_000004 1/13006 0/8600 1/4406
?/? c.33G>A r.(=) p.(=) g.16091511G>A Copied from the Exome Variant Server FBLIM1_000005 10/13006 0/8600 10/4406
?/? c.75C>T r.(=) p.(=) g.16091553C>T Copied from the Exome Variant Server FBLIM1_000006 1/13006 0/8600 1/4406
?/? c.89T>C r.(?) p.(Val30Ala) g.16091567T>C Copied from the Exome Variant Server FBLIM1_000007 1/13004 0/8598 1/4406
?/? c.113G>A r.(?) p.(Arg38Gln) g.16091591G>A Copied from the Exome Variant Server FBLIM1_000008 27/13000 17/8596 10/4404
?/? c.115C>T r.(?) p.(Arg39Cys) g.16091593C>T Copied from the Exome Variant Server FBLIM1_000009 78/13000 0/8596 78/4404
?/? c.116G>A r.(?) p.(Arg39His) g.16091594G>A Copied from the Exome Variant Server FBLIM1_000010 1/13000 0/8596 1/4404
?/? c.136C>T r.(?) p.(Pro46Ser) g.16091614C>T Copied from the Exome Variant Server FBLIM1_000011 1/13000 0/8596 1/4404
?/? c.156C>T r.(=) p.(=) g.16091634C>T Copied from the Exome Variant Server FBLIM1_000012 5/12984 0/8584 5/4400
?/? c.170C>T r.(?) p.(Ala57Val) g.16091648C>T Copied from the Exome Variant Server FBLIM1_000013 1/12960 1/8568 0/4392
?/? c.174G>T r.(=) p.(=) g.16091652G>T Copied from the Exome Variant Server FBLIM1_000014 102/12988 1/8588 101/4400
?/? c.221C>T r.(?) p.(Pro74Leu) g.16091699C>T Copied from the Exome Variant Server FBLIM1_000015 1/12976 0/8588 1/4388
?/? c.222G>A r.(=) p.(=) g.16091700G>A Copied from the Exome Variant Server FBLIM1_000016 175/12968 18/8584 157/4384
?/? c.245A>G r.(?) p.(Asn82Ser) g.16091723A>G Copied from the Exome Variant Server FBLIM1_000017 1/12924 0/8570 1/4354
?/? c.250+32C>T r.(=) p.(=) g.16091760C>T Copied from the Exome Variant Server FBLIM1_000018 213/12850 192/8540 21/4310
?/? c.251-45C>T r.(=) p.(=) g.16093826C>T Copied from the Exome Variant Server FBLIM1_000019 1/13006 0/8600 1/4406
?/? c.251-35G>A r.(=) p.(=) g.16093836G>A Copied from the Exome Variant Server FBLIM1_000020 1/13006 0/8600 1/4406
?/? c.273C>T r.(=) p.(=) g.16093893C>T Copied from the Exome Variant Server FBLIM1_000021 3/13006 0/8600 3/4406
?/? c.276G>T r.(=) p.(=) g.16093896G>T Copied from the Exome Variant Server FBLIM1_000022 1/13006 1/8600 0/4406
?/? c.280G>A r.(?) p.(Gly94Ser) g.16093900G>A Copied from the Exome Variant Server FBLIM1_000023 2/13006 0/8600 2/4406
?/? c.286G>A r.(?) p.(Asp96Asn) g.16093906G>A Copied from the Exome Variant Server FBLIM1_000024 1/13006 0/8600 1/4406
?/? c.310C>T r.(?) p.(Leu104Phe) g.16093930C>T Copied from the Exome Variant Server FBLIM1_000025 1/13006 0/8600 1/4406
?/? c.312C>T r.(=) p.(=) g.16093932C>T Copied from the Exome Variant Server FBLIM1_000026 1/13006 0/8600 1/4406
?/? c.319C>A r.(?) p.(Pro107Thr) g.16093939C>A Copied from the Exome Variant Server FBLIM1_000027 2/13006 2/8600 0/4406
?/? c.326C>T r.(?) p.(Pro109Leu) g.16093946C>T Copied from the Exome Variant Server FBLIM1_000028 6/13006 6/8600 0/4406
?/? c.327G>A r.(=) p.(=) g.16093947G>A Copied from the Exome Variant Server FBLIM1_000029 2/13006 1/8600 1/4406
?/? c.380C>T r.(?) p.(Ala127Val) g.16094000C>T Copied from the Exome Variant Server FBLIM1_000030 1/12994 0/8590 1/4404
?/? c.438+17G>A r.(=) p.(=) g.16094075G>A Copied from the Exome Variant Server FBLIM1_000031 15/5308 0/3648 15/1660
?/? c.441C>T r.(=) p.(=) g.16095025C>T Copied from the Exome Variant Server FBLIM1_000032 1/13002 0/8598 1/4404
?/? c.447G>A r.(=) p.(=) g.16095031G>A Copied from the Exome Variant Server FBLIM1_000033 170/13002 154/8596 16/4406
?/? c.462C>T r.(=) p.(=) g.16095046C>T Copied from the Exome Variant Server FBLIM1_000034 50/13006 0/8600 50/4406
?/? c.468C>T r.(=) p.(=) g.16095052C>T Copied from the Exome Variant Server FBLIM1_000035 3/13006 1/8600 2/4406
?/? c.509C>T r.(?) p.(Pro170Leu) g.16095093C>T Copied from the Exome Variant Server FBLIM1_000036 13/13006 1/8600 12/4406
?/? c.510G>C r.(=) p.(=) g.16095094G>C Copied from the Exome Variant Server FBLIM1_000037 1/13006 1/8600 0/4406
?/? c.520G>A r.(?) p.(Val174Ile) g.16095104G>A Copied from the Exome Variant Server FBLIM1_000038 141/13006 0/8600 141/4406
?/? c.523G>A r.(?) p.(Glu175Lys) g.16095107G>A Copied from the Exome Variant Server FBLIM1_000039 1/13006 1/8600 0/4406
?/? c.541+39A>T r.(=) p.(=) g.16095164A>T Copied from the Exome Variant Server FBLIM1_000040 2/13000 2/8596 0/4404
?/? c.542-11C>T r.(=) p.(=) g.16096893C>T Copied from the Exome Variant Server FBLIM1_000041 2368/13006 1916/8600 452/4406
?/? c.572C>T r.(?) p.(Ser191Phe) g.16096934C>T Copied from the Exome Variant Server FBLIM1_000042 8020/13006 6122/8600 1898/4406
?/? c.574C>T r.(?) p.(Pro192Ser) g.16096936C>T Copied from the Exome Variant Server FBLIM1_000043 1/13006 0/8600 1/4406
?/? c.577C>T r.(?) p.(Arg193*) g.16096939C>T Copied from the Exome Variant Server FBLIM1_000044 2/13006 0/8600 2/4406
?/? c.589G>A r.(?) p.(Val197Met) g.16096951G>A Copied from the Exome Variant Server FBLIM1_000045 6/13006 6/8600 0/4406
?/? c.611A>G r.(?) p.(Tyr204Cys) g.16096973A>G Copied from the Exome Variant Server FBLIM1_000046 1/13006 0/8600 1/4406
?/? c.686G>A r.(?) p.(Arg229Gln) g.16097048G>A Copied from the Exome Variant Server FBLIM1_000047 1/13006 1/8600 0/4406
?/? c.696C>T r.(=) p.(=) g.16097058C>T Copied from the Exome Variant Server FBLIM1_000048 1/13006 1/8600 0/4406
?/? c.697G>A r.(?) p.(Glu233Lys) g.16097059G>A Copied from the Exome Variant Server FBLIM1_000049 1/13006 0/8600 1/4406
?/? c.711+1G>C r.spl? p.? g.16097074G>C Copied from the Exome Variant Server FBLIM1_000050 1/13006 1/8600 0/4406
?/? c.711+14C>T r.(=) p.(=) g.16097087C>T Copied from the Exome Variant Server FBLIM1_000051 1/13006 0/8600 1/4406
?/? c.729C>T r.(=) p.(=) g.16101130C>T Copied from the Exome Variant Server FBLIM1_000052 1/13006 1/8600 0/4406
?/? c.751C>T r.(?) p.(Arg251Trp) g.16101152C>T Copied from the Exome Variant Server FBLIM1_000053 3/13006 3/8600 0/4406
?/? c.778C>A r.(?) p.(Gln260Lys) g.16101179C>A Copied from the Exome Variant Server FBLIM1_000054 1/13006 0/8600 1/4406
?/? c.803C>T r.(?) p.(Thr268Met) g.16101204C>T Copied from the Exome Variant Server FBLIM1_000055 1/13006 1/8600 0/4406
?/? c.816C>T r.(=) p.(=) g.16101217C>T Copied from the Exome Variant Server FBLIM1_000056 1017/13006 791/8600 226/4406
?/? c.827T>C r.(?) p.(Ile276Thr) g.16101228T>C Copied from the Exome Variant Server FBLIM1_000057 2/13006 1/8600 1/4406
?/? c.844G>T r.(?) p.(Ala282Ser) g.16101245G>T Copied from the Exome Variant Server FBLIM1_000058 1/13006 1/8600 0/4406
?/? c.865G>T r.(?) p.(Val289Leu) g.16101266G>T Copied from the Exome Variant Server FBLIM1_000059 1/13006 1/8600 0/4406
?/? c.879C>T r.(=) p.(=) g.16101280C>T Copied from the Exome Variant Server FBLIM1_000060 3/13006 3/8600 0/4406
?/? c.922G>T r.(?) p.(Ala308Ser) g.16101323G>T Copied from the Exome Variant Server FBLIM1_000061 87/13006 0/8600 87/4406
?/? c.926G>T r.(?) p.(Gly309Val) g.16101327G>T Copied from the Exome Variant Server FBLIM1_000062 1/13006 1/8600 0/4406
?/? c.931G>A r.(?) p.(Gly311Arg) g.16101332G>A Copied from the Exome Variant Server FBLIM1_000063 241/13006 217/8600 24/4406
?/? c.934C>T r.(?) p.(Arg312*) g.16101335C>T Copied from the Exome Variant Server FBLIM1_000064 1/13006 1/8600 0/4406
?/? c.1002G>A r.(=) p.(=) g.16101403G>A Copied from the Exome Variant Server FBLIM1_000065 55/7158 0/4564 55/2594
?/? c.1039G>A r.(?) p.(Ala347Thr) g.16101440G>A Copied from the Exome Variant Server FBLIM1_000066 3/6632 3/4350 0/2282
?/? c.1051G>T r.(?) p.(Ala351Ser) g.16101452G>T Copied from the Exome Variant Server FBLIM1_000067 7/6486 7/4298 0/2188
?/? c.*23_*24insA r.(=) p.(=) g.16101549_16101550insA Copied from the Exome Variant Server FBLIM1_000068 58/6614 33/4542 25/2072
?/? c.*28_*29del r.(=) p.(=) g.16101554_16101555del Copied from the Exome Variant Server FBLIM1_000069 85/6718 57/4614 28/2104
?/? c.*2108G>A r.(=) p.(=) g.16103634G>A Copied from the Exome Variant Server FBLIM1_000070 3/13006 3/8600 0/4406
?/? c.*2152G>T r.(=) p.(=) g.16103678G>T Copied from the Exome Variant Server FBLIM1_000071 1/13006 0/8600 1/4406
?/? c.*2270A>G r.(=) p.(=) g.16103796A>G Copied from the Exome Variant Server FBLIM1_000072 7/13006 6/8600 1/4406
?/? c.*2290A>C r.(=) p.(=) g.16103816A>C Copied from the Exome Variant Server FBLIM1_000073 122/13006 0/8600 122/4406
?/? c.*2297C>T r.(=) p.(=) g.16103823C>T Copied from the Exome Variant Server FBLIM1_000074 1/13006 0/8600 1/4406
?/? c.*2298G>A r.(=) p.(=) g.16103824G>A Copied from the Exome Variant Server FBLIM1_000075 2/13006 0/8600 2/4406
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