Transcript #00000083

Transcript name Fanconi anemia, complementation group L, transcript variant 1
Gene name FANCL (FA complementation group L)
Chromosome 2
Transcript - NCBI ID NM_001114636.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001108108.1
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.626T>C r.(?) p.(Met209Thr)
./. - c.637G>A r.(?) p.(Asp213Asn)
./. - c.685A>G r.(?) p.(Thr229Ala)
./. - c.685A>G r.(?) p.(Thr229Ala)
./. - c.706+22G>C r.(=) p.(=)
./. - c.706+22G>C r.(=) p.(=)
./. - c.707-43G>A r.(=) p.(=)
./. - c.721A>G r.(?) p.(Ile241Val)
./. - c.721A>G r.(?) p.(Ile241Val)
./. - c.791-42G>C r.(=) p.(=)
./. - c.791-8A>T r.(=) p.(=)
./. - c.791-8A>T r.(=) p.(=)
./. - c.837-15_837-14insT r.(=) p.(=)
./. - c.837-15_837-14insT r.(=) p.(=)
./. - c.837-15_837-14insT r.(=) p.(=)
./. - c.837-15_837-14insT r.(=) p.(=)
./. - c.837-15_837-14insT r.(=) p.(=)
./. - c.855G>C r.(=) p.(=)
./. - c.887A>T r.(?) p.(Asp296Val)
./. - c.888T>C r.(=) p.(=)
./. - c.918+4A>G r.spl? p.?
./. - c.919-29C>T r.(=) p.(=)
./. - c.919-29C>T r.(=) p.(=)
./. - c.928A>G r.(?) p.(Met310Val)
./. - c.1022_1024del r.(?) p.(Ile341_Cys342delinsSer)
./. - c.1035+46A>G r.(=) p.(=)
./. - c.1035+46A>G r.(=) p.(=)
./. - c.1035+46A>G r.(=) p.(=)
./. - c.1035+46A>G r.(=) p.(=)
./. - c.1035+46A>G r.(=) p.(=)
./. - c.1035+46A>G r.(=) p.(=)
./. - c.1035+46A>G r.(=) p.(=)
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