Unique variants in gene FANCL

Information The variants shown are described using the 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) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 7 - c.-39A>G r.(=) p.(=) g.58468487T>C - FANCL_000009 rs41281511 - - - Despoina Kalfakakou
./. 8 - c.-26T>A r.(=) p.(=) g.58468474A>T - FANCL_000008 - - - - Despoina Kalfakakou
./. 2 - c.-3G>C r.(=) p.(=) g.58468451C>G - FANCL_000014 - - - - Despoina Kalfakakou
./. 11 - c.2T>C r.? p.? g.58468447A>G - FANCL_000013 - - - - Despoina Kalfakakou
./. 1 - c.20G>C r.(?) p.(Ser7Thr) g.58468429C>G - FANCL_000042 - - - - Despoina Kalfakakou
./. 1 - c.50C>G r.(?) p.(Pro17Arg) g.58468399G>C - FANCL_000035 - - - - Despoina Kalfakakou
./. 5 - c.96+40T>C r.(=) p.(=) g.58468313A>G - FANCL_000012 - - - - Despoina Kalfakakou
./. 3 - c.97-11A>G r.(=) p.(=) g.58459258T>C - FANCL_000021 - - - - Despoina Kalfakakou
./. 2 - c.108C>G r.(?) p.(Phe36Leu) g.58459236G>C - FANCL_000033 - - - - Despoina Kalfakakou
./. 8 - c.112C>T r.(?) p.(Leu38Phe) g.58459232G>A - FANCL_000007 rs55849827 - - - Despoina Kalfakakou
./. 9 - c.203G>C r.(?) p.(Arg68Pro) g.58456962C>G - FANCL_000002 - - - - Despoina Kalfakakou
./. 2 - c.217-2A>G r.spl? p.? g.58453921T>C - FANCL_000001 - - - - Despoina Kalfakakou
./. 3 - c.238C>G r.(?) p.(Leu80Val) g.58453898G>C - FANCL_000030 - - - - Despoina Kalfakakou
./. 1 - c.273+3A>G r.spl? p.? g.58453860T>C - FANCL_000011 - - - - Despoina Kalfakakou
./. 1 - c.273+17dup r.(=) p.(=) g.58453846dup - FANCL_000037 - - - - Despoina Kalfakakou
./. 1 - c.273+17_273+19del r.(=) p.(=) g.58453844_58453846del - FANCL_000036 - - - - Despoina Kalfakakou
./. 1 - c.374+41A>G r.(=) p.(=) g.58449036T>C - FANCL_000040 - - - - Despoina Kalfakakou
./. 1 - c.375-36C>T r.(=) p.(=) g.58431397G>A - FANCL_000032 - - - - Despoina Kalfakakou
./. 1 - c.472-21A>G r.(=) p.(=) g.58425818T>C - FANCL_000031 - - - - Despoina Kalfakakou
./. 1 - c.626T>C r.(?) p.(Met209Thr) g.58392939A>G - FANCL_000026 - - - - Despoina Kalfakakou
./. 1 - c.637G>A r.(?) p.(Asp213Asn) g.58392928C>T - FANCL_000034 - - - - Despoina Kalfakakou
./. 2 - c.685A>G r.(?) p.(Thr229Ala) g.58392880T>C - FANCL_000024 - - - - Despoina Kalfakakou
./. 2 - c.706+22G>C r.(=) p.(=) g.58392837C>G - FANCL_000028 - - - - Despoina Kalfakakou
./. 1 - c.707-43G>A r.(=) p.(=) g.58390695C>T - FANCL_000023 - - - - Despoina Kalfakakou
./. 2 - c.721A>G r.(?) p.(Ile241Val) g.58390638T>C - FANCL_000010 - - - - Despoina Kalfakakou
./. 1 - c.791-42G>C r.(=) p.(=) g.58390251C>G - FANCL_000038 - - - - Despoina Kalfakakou
./. 2 - c.791-8A>T r.(=) p.(=) g.58390217T>A - FANCL_000022 - - - - Despoina Kalfakakou
./. 5 - c.837-15_837-14insT r.(=) p.(=) g.58390096_58390097insA - FANCL_000029 - - - - Despoina Kalfakakou
./. 1 - c.855G>C r.(=) p.(=) g.58390064C>G - FANCL_000025 - - - - Despoina Kalfakakou
./. 1 - c.887A>T r.(?) p.(Asp296Val) g.58390032T>A - FANCL_000017 - - - - Despoina Kalfakakou
./. 1 - c.888T>C r.(=) p.(=) g.58390031A>G - FANCL_000004 - - - - Despoina Kalfakakou
./. 1 - c.918+4A>G r.spl? p.? g.58389997T>C - FANCL_000041 - - - - Despoina Kalfakakou
./. 2 - c.919-29C>T r.(=) p.(=) g.58388802G>A - FANCL_000016 - - - - Despoina Kalfakakou
./. 1 - c.928A>G r.(?) p.(Met310Val) g.58388764T>C - FANCL_000027 - - - - Despoina Kalfakakou
./. 1 - c.1022_1024del r.(?) p.(Ile341_Cys342delinsSer) g.58388668_58388670del - FANCL_000039 - - - - Despoina Kalfakakou
./. 8 - c.1035+46A>G r.(=) p.(=) g.58388611T>C - FANCL_000015 - - - - Despoina Kalfakakou
./. 2 - c.1036-16C>G r.(=) p.(=) g.58387330G>C - FANCL_000018 - - - - Despoina Kalfakakou
./. 1 - c.1093C>A r.(?) p.(Pro365Thr) g.58387257G>T - FANCL_000019 - - - - Despoina Kalfakakou
./. 1 - c.1107+18C>A r.(=) p.(=) g.58387225G>T - FANCL_000003 - - - - Despoina Kalfakakou
./. 1 - c.1111A>G r.(?) p.(Ile371Val) g.58386932T>C - FANCL_000020 - - - - Despoina Kalfakakou
./. 6 - c.1114_1115insATTA r.(?) p.(Thr372Asnfs*13) g.58386928_58386929insTAAT - FANCL_000006 - - - - Despoina Kalfakakou
./. 1 - c.*19C>T r.(=) p.(=) g.58386881G>A - FANCL_000005 - - - - Despoina Kalfakakou
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