Transcript #00000084

Transcript name Fanconi anemia, complementation group L, transcript variant 2
Gene name FANCL (FA complementation group L)
Chromosome 2
Transcript - NCBI ID NM_018062.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_060532.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

113 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-39A>G r.(=) p.(=)
./. - c.-39A>G r.(=) p.(=)
./. - c.-39A>G r.(=) p.(=)
./. - c.-39A>G r.(=) p.(=)
./. - c.-39A>G r.(=) p.(=)
./. - c.-39A>G r.(=) p.(=)
./. - c.-39A>G r.(=) p.(=)
./. - c.-26T>A r.(=) p.(=)
./. - c.-26T>A r.(=) p.(=)
./. - c.-26T>A r.(=) p.(=)
./. - c.-26T>A r.(=) p.(=)
./. - c.-26T>A r.(=) p.(=)
./. - c.-26T>A r.(=) p.(=)
./. - c.-26T>A r.(=) p.(=)
./. - c.-26T>A r.(=) p.(=)
./. - c.-3G>C r.(=) p.(=)
./. - c.-3G>C r.(=) p.(=)
./. - c.2T>C r.? p.?
./. - c.2T>C r.? p.?
./. - c.2T>C r.? p.?
./. - c.2T>C r.? p.?
./. - c.2T>C r.? p.?
./. - c.2T>C r.? p.?
./. - c.2T>C r.? p.?
./. - c.2T>C r.? p.?
./. - c.2T>C r.? p.?
./. - c.2T>C r.? p.?
./. - c.2T>C r.? p.?
./. - c.20G>C r.(?) p.(Ser7Thr)
./. - c.50C>G r.(?) p.(Pro17Arg)
./. - c.96+40T>C r.(=) p.(=)
./. - c.96+40T>C r.(=) p.(=)
./. - c.96+40T>C r.(=) p.(=)
./. - c.96+40T>C r.(=) p.(=)
./. - c.96+40T>C r.(=) p.(=)
./. - c.97-11A>G r.(=) p.(=)
./. - c.97-11A>G r.(=) p.(=)
./. - c.97-11A>G r.(=) p.(=)
./. - c.108C>G r.(?) p.(Phe36Leu)
./. - c.108C>G r.(?) p.(Phe36Leu)
./. - c.112C>T r.(?) p.(Leu38Phe)
./. - c.112C>T r.(?) p.(Leu38Phe)
./. - c.112C>T r.(?) p.(Leu38Phe)
./. - c.112C>T r.(?) p.(Leu38Phe)
./. - c.112C>T r.(?) p.(Leu38Phe)
./. - c.112C>T r.(?) p.(Leu38Phe)
./. - c.112C>T r.(?) p.(Leu38Phe)
./. - c.112C>T r.(?) p.(Leu38Phe)
./. - c.203G>C r.(?) p.(Arg68Pro)
./. - c.203G>C r.(?) p.(Arg68Pro)
./. - c.203G>C r.(?) p.(Arg68Pro)
./. - c.203G>C r.(?) p.(Arg68Pro)
./. - c.203G>C r.(?) p.(Arg68Pro)
./. - c.203G>C r.(?) p.(Arg68Pro)
./. - c.203G>C r.(?) p.(Arg68Pro)
./. - c.203G>C r.(?) p.(Arg68Pro)
./. - c.203G>C r.(?) p.(Arg68Pro)
./. - c.217-2A>G r.spl? p.?
./. - c.217-2A>G r.spl? p.?
./. - c.238C>G r.(?) p.(Leu80Val)
./. - c.238C>G r.(?) p.(Leu80Val)
./. - c.238C>G r.(?) p.(Leu80Val)
./. - c.273+3A>G r.spl? p.?
./. - c.273+17dup r.(=) p.(=)
./. - c.273+17_273+19del r.(=) p.(=)
./. - c.374+41A>G r.(=) p.(=)
./. - c.375-36C>T r.(=) p.(=)
./. - c.472-21A>G r.(=) p.(=)
./. - c.611T>C r.(?) p.(Met204Thr)
./. - c.622G>A r.(?) p.(Asp208Asn)
./. - c.670A>G r.(?) p.(Thr224Ala)
./. - c.670A>G r.(?) p.(Thr224Ala)
./. - c.691+22G>C r.(=) p.(=)
./. - c.691+22G>C r.(=) p.(=)
./. - c.692-43G>A r.(=) p.(=)
./. - c.706A>G r.(?) p.(Ile236Val)
./. - c.706A>G r.(?) p.(Ile236Val)
./. - c.776-42G>C r.(=) p.(=)
./. - c.776-8A>T r.(=) p.(=)
./. - c.776-8A>T r.(=) p.(=)
./. - c.822-15_822-14insT r.(=) p.(=)
./. - c.822-15_822-14insT r.(=) p.(=)
./. - c.822-15_822-14insT r.(=) p.(=)
./. - c.822-15_822-14insT r.(=) p.(=)
./. - c.822-15_822-14insT r.(=) p.(=)
./. - c.840G>C r.(=) p.(=)
./. - c.872A>T r.(?) p.(Asp291Val)
./. - c.873T>C r.(=) p.(=)
./. - c.903+4A>G r.spl? p.?
./. - c.904-29C>T r.(=) p.(=)
./. - c.904-29C>T r.(=) p.(=)
./. - c.913A>G r.(?) p.(Met305Val)
./. - c.1007_1009del r.(?) p.(Ile336_Cys337delinsSer)
./. - c.1020+46A>G r.(=) p.(=)
./. - c.1020+46A>G r.(=) p.(=)
./. - c.1020+46A>G r.(=) p.(=)
./. - c.1020+46A>G r.(=) p.(=)
./. - c.1020+46A>G r.(=) p.(=)
./. - c.1020+46A>G r.(=) p.(=)
./. - c.1020+46A>G r.(=) p.(=)
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