All transcript variants in gene FANCD2

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

480 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
./. - c.28T>C r.(?) p.(Ser10Pro) g.10070369T>C - FANCD2_000051 - - - - - - - Despoina Kalfakakou
./. - c.28T>C r.(?) p.(Ser10Pro) g.10070369T>C - FANCD2_000051 - - - - - - - Despoina Kalfakakou
./. - c.28T>C r.(?) p.(Ser10Pro) g.10070369T>C - FANCD2_000051 - - - - - - - Despoina Kalfakakou
./. - c.64+51A>G r.(=) p.(=) g.10070456A>G - FANCD2_000153 - - - - - - - Despoina Kalfakakou
./. - c.65-18A>C r.(=) p.(=) g.10074498A>C - FANCD2_000026 - - - - - - - Despoina Kalfakakou
./. - c.78A>C r.(?) p.(Gln26His) g.10074529A>C - FANCD2_000020 rs45510294 - - - - - - Despoina Kalfakakou
./. - c.78A>C r.(?) p.(Gln26His) g.10074529A>C - FANCD2_000020 rs45510294 - - - - - - Despoina Kalfakakou
./. - c.78A>C r.(?) p.(Gln26His) g.10074529A>C - FANCD2_000020 rs45510294 - - - - - - Despoina Kalfakakou
./. - c.78A>C r.(?) p.(Gln26His) g.10074529A>C - FANCD2_000020 rs45510294 - - - - - - Despoina Kalfakakou
./. - c.78A>C r.(?) p.(Gln26His) g.10074529A>C - FANCD2_000020 rs45510294 - - - - - - Despoina Kalfakakou
./. - c.78A>C r.(?) p.(Gln26His) g.10074529A>C - FANCD2_000020 rs45510294 - - - - - - Despoina Kalfakakou
./. - c.78A>C r.(?) p.(Gln26His) g.10074529A>C - FANCD2_000020 rs45510294 - - - - - - Despoina Kalfakakou
./. - c.78A>C r.(?) p.(Gln26His) g.10074529A>C - FANCD2_000020 rs45510294 - - - - - - Despoina Kalfakakou
./. - c.78A>C r.(?) p.(Gln26His) g.10074529A>C - FANCD2_000020 rs45510294 - - - - - - Despoina Kalfakakou
./. - c.78A>C r.(?) p.(Gln26His) g.10074529A>C - FANCD2_000020 rs45510294 - - - - - - Despoina Kalfakakou
./. - c.86C>T r.(?) p.(Ser29Phe) g.10074537C>T - FANCD2_000103 - - - - - - - Despoina Kalfakakou
./. - c.182C>T r.(?) p.(Thr61Met) g.10074633C>T - FANCD2_000108 rs35110529 - - - - - - Despoina Kalfakakou
./. - c.195G>C r.(?) p.(Gln65His) g.10074646G>C - FANCD2_000104 rs36084488 - - - - - - Despoina Kalfakakou
./. - c.195G>C r.(?) p.(Gln65His) g.10074646G>C - FANCD2_000104 rs36084488 - - - - - - Despoina Kalfakakou
./. - c.206-38T>C r.(=) p.(=) g.10076115T>C - FANCD2_000141 - - - - - - - Despoina Kalfakakou
./. - c.206-19T>C r.(=) p.(=) g.10076134T>C - FANCD2_000123 - - - - - - - Despoina Kalfakakou
./. - c.273+40T>G r.(=) p.(=) g.10076260T>G - FANCD2_000021 - - - - - - - Despoina Kalfakakou
./. - c.350G>C r.(?) p.(Cys117Ser) g.10076455G>C - FANCD2_000109 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.377+35C>T r.(=) p.(=) g.10076517C>T - FANCD2_000022 - - - - - - - Despoina Kalfakakou
./. - c.423G>T r.(=) p.(=) g.10076902G>T - FANCD2_000138 - - - - - - - Despoina Kalfakakou
./. - c.423G>T r.(=) p.(=) g.10076902G>T - FANCD2_000138 - - - - - - - Despoina Kalfakakou
./. - c.491+30G>A r.(=) p.(=) g.10078053G>A - FANCD2_000023 - - - - - - - Despoina Kalfakakou
./. - c.491+30G>A r.(=) p.(=) g.10078053G>A - FANCD2_000023 - - - - - - - Despoina Kalfakakou
./. - c.491+30G>A r.(=) p.(=) g.10078053G>A - FANCD2_000023 - - - - - - - Despoina Kalfakakou
./. - c.491+30G>A r.(=) p.(=) g.10078053G>A - FANCD2_000023 - - - - - - - Despoina Kalfakakou
./. - c.491+30G>A r.(=) p.(=) g.10078053G>A - FANCD2_000023 - - - - - - - Despoina Kalfakakou
./. - c.491+30G>A r.(=) p.(=) g.10078053G>A - FANCD2_000023 - - - - - - - Despoina Kalfakakou
./. - c.491+30G>A r.(=) p.(=) g.10078053G>A - FANCD2_000023 - - - - - - - Despoina Kalfakakou
./. - c.491+30G>A r.(=) p.(=) g.10078053G>A - FANCD2_000023 - - - - - - - Despoina Kalfakakou
./. - c.491+30G>A r.(=) p.(=) g.10078053G>A - FANCD2_000023 - - - - - - - Despoina Kalfakakou
./. - c.491+30G>A r.(=) p.(=) g.10078053G>A - FANCD2_000023 - - - - - - - Despoina Kalfakakou
./. - c.570+22C>T r.(=) p.(=) g.10081063C>T - FANCD2_000068 - - - - - - - Despoina Kalfakakou
./. - c.570+22C>T r.(=) p.(=) g.10081063C>T - FANCD2_000068 - - - - - - - Despoina Kalfakakou
./. - c.571-19A>T r.(=) p.(=) g.10081386A>T - FANCD2_000097 - - - - - - - Despoina Kalfakakou
./. - c.571-19A>T r.(=) p.(=) g.10081386A>T - FANCD2_000097 - - - - - - - Despoina Kalfakakou
./. - c.571-4G>A r.spl? p.? g.10081401G>A - FANCD2_000132 - - - - - - - Despoina Kalfakakou
./. - c.673G>A r.(?) p.(Ala225Thr) g.10081507G>A - FANCD2_000086 - - - - - - - Despoina Kalfakakou
./. - c.696-18T>G r.(=) p.(=) g.10083289T>G - FANCD2_000041 rs56083801 - - - - - - Despoina Kalfakakou
./. - c.696-18T>G r.(=) p.(=) g.10083289T>G - FANCD2_000041 rs56083801 - - - - - - Despoina Kalfakakou
./. - c.696-18T>G r.(=) p.(=) g.10083289T>G - FANCD2_000041 rs56083801 - - - - - - Despoina Kalfakakou
./. - c.696-18T>G r.(=) p.(=) g.10083289T>G - FANCD2_000041 rs56083801 - - - - - - Despoina Kalfakakou
./. - c.696-18T>G r.(=) p.(=) g.10083289T>G - FANCD2_000041 rs56083801 - - - - - - Despoina Kalfakakou
./. - c.696-18T>G r.(=) p.(=) g.10083289T>G - FANCD2_000041 rs56083801 - - - - - - Despoina Kalfakakou
./. - c.696-18T>G r.(=) p.(=) g.10083289T>G - FANCD2_000041 rs56083801 - - - - - - Despoina Kalfakakou
./. - c.696-18T>G r.(=) p.(=) g.10083289T>G - FANCD2_000041 rs56083801 - - - - - - Despoina Kalfakakou
./. - c.696-18T>G r.(=) p.(=) g.10083289T>G - FANCD2_000041 rs56083801 - - - - - - Despoina Kalfakakou
./. - c.696-18T>G r.(=) p.(=) g.10083289T>G - FANCD2_000041 rs56083801 - - - - - - Despoina Kalfakakou
./. - c.784-38A>G r.(=) p.(=) g.10084205A>G - FANCD2_000102 - - - - - - - Despoina Kalfakakou
./. - c.784-7T>A r.(=) p.(=) g.10084236T>A - FANCD2_000155 - - - - - - - Despoina Kalfakakou
./. - c.803A>G r.(?) p.(Asp268Gly) g.10084262A>G - FANCD2_000075 - - - - - - - Despoina Kalfakakou
./. - c.803A>G r.(?) p.(Asp268Gly) g.10084262A>G - FANCD2_000075 - - - - - - - Despoina Kalfakakou
./. - c.888+13A>G r.(=) p.(=) g.10084360A>G - FANCD2_000139 - - - - - - - Despoina Kalfakakou
./. - c.888+49A>G r.(=) p.(=) g.10084396A>G - FANCD2_000042 rs55921165 - - - - - - Despoina Kalfakakou
./. - c.888+49A>G r.(=) p.(=) g.10084396A>G - FANCD2_000042 rs55921165 - - - - - - Despoina Kalfakakou
./. - c.888+49A>G r.(=) p.(=) g.10084396A>G - FANCD2_000042 rs55921165 - - - - - - Despoina Kalfakakou
./. - c.888+49A>G r.(=) p.(=) g.10084396A>G - FANCD2_000042 rs55921165 - - - - - - Despoina Kalfakakou
./. - c.894T>C r.(=) p.(=) g.10084739T>C - FANCD2_000076 - - - - - - - Despoina Kalfakakou
./. - c.894T>C r.(=) p.(=) g.10084739T>C - FANCD2_000076 - - - - - - - Despoina Kalfakakou
./. - c.903T>A r.(=) p.(=) g.10084748T>A - FANCD2_000043 - - - - - - - Despoina Kalfakakou
./. - c.903T>A r.(=) p.(=) g.10084748T>A - FANCD2_000043 - - - - - - - Despoina Kalfakakou
./. - c.906G>A r.(=) p.(=) g.10084751G>A - FANCD2_000089 - - - - - - - Despoina Kalfakakou
./. - c.989+23del r.(=) p.(=) g.10084857del - FANCD2_000100 - - - - - - - Despoina Kalfakakou
./. - c.989+47C>T r.(=) p.(=) g.10084881C>T - FANCD2_000024 rs36080989 - - - - - - Despoina Kalfakakou
./. - c.989+47C>T r.(=) p.(=) g.10084881C>T - FANCD2_000024 rs36080989 - - - - - - Despoina Kalfakakou
./. - c.989+47C>T r.(=) p.(=) g.10084881C>T - FANCD2_000024 rs36080989 - - - - - - Despoina Kalfakakou
./. - c.989+47C>T r.(=) p.(=) g.10084881C>T - FANCD2_000024 rs36080989 - - - - - - Despoina Kalfakakou
./. - c.989+47C>T r.(=) p.(=) g.10084881C>T - FANCD2_000024 rs36080989 - - - - - - Despoina Kalfakakou
./. - c.989+47C>T r.(=) p.(=) g.10084881C>T - FANCD2_000024 rs36080989 - - - - - - Despoina Kalfakakou
./. - c.1098+4A>G r.spl? p.? g.10085280A>G - FANCD2_000044 rs664233 - - - - - - Despoina Kalfakakou
./. - c.1098+4A>G r.spl? p.? g.10085280A>G - FANCD2_000044 rs664233 - - - - - - Despoina Kalfakakou
./. - c.1098+4A>G r.spl? p.? g.10085280A>G - FANCD2_000044 rs664233 - - - - - - Despoina Kalfakakou
./. - c.1098+4A>G r.spl? p.? g.10085280A>G - FANCD2_000044 rs664233 - - - - - - Despoina Kalfakakou
./. - c.1098+4A>G r.spl? p.? g.10085280A>G - FANCD2_000044 rs664233 - - - - - - Despoina Kalfakakou
./. - c.1099-37G>A r.(=) p.(=) g.10085476G>A - FANCD2_000112 - - - - - - - Despoina Kalfakakou
./. - c.1099-34A>G r.(=) p.(=) g.10085479A>G - FANCD2_000045 - - - - - - - Despoina Kalfakakou
./. - c.1099-15C>T r.(=) p.(=) g.10085498C>T - FANCD2_000077 - - - - - - - Despoina Kalfakakou
./. - c.1116C>T r.(=) p.(=) g.10085530C>T - FANCD2_000110 - - - - - - - Despoina Kalfakakou
./. - c.1116C>T r.(=) p.(=) g.10085530C>T - FANCD2_000110 - - - - - - - Despoina Kalfakakou
./. - c.1116C>T r.(=) p.(=) g.10085530C>T - FANCD2_000110 - - - - - - - Despoina Kalfakakou
./. - c.1116C>T r.(=) p.(=) g.10085530C>T - FANCD2_000110 - - - - - - - Despoina Kalfakakou
./. - c.1116C>T r.(=) p.(=) g.10085530C>T - FANCD2_000110 - - - - - - - Despoina Kalfakakou
./. - c.1118C>T r.(?) p.(Ser373Leu) g.10085532C>T - FANCD2_000111 - - - - - - - Despoina Kalfakakou
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