All transcript variants in gene FANCI

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

375 entries on 4 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.-19-9C>G r.(=) p.(=) g.89790851C>G - FANCI_000076 - - - - Despoina Kalfakakou
./. - c.84+39C>T r.(=) p.(=) g.89791001C>T - FANCI_000056 - - - - Despoina Kalfakakou
./. - c.84+39C>T r.(=) p.(=) g.89791001C>T - FANCI_000056 - - - - Despoina Kalfakakou
./. - c.84+39C>T r.(=) p.(=) g.89791001C>T - FANCI_000056 - - - - Despoina Kalfakakou
./. - c.85-31C>G r.(=) p.(=) g.89801904C>G - FANCI_000111 - - - - Despoina Kalfakakou
./. - c.85-31C>G r.(=) p.(=) g.89801904C>G - FANCI_000111 - - - - Despoina Kalfakakou
./. - c.92A>G r.(?) p.(Asn31Ser) g.89801942A>G - FANCI_000117 - - - - Despoina Kalfakakou
./. - c.157+25G>C r.(=) p.(=) g.89802032G>C - FANCI_000112 - - - - Despoina Kalfakakou
./. - c.157+25G>C r.(=) p.(=) g.89802032G>C - FANCI_000112 - - - - Despoina Kalfakakou
./. - c.158-37A>C r.(=) p.(=) g.89803907A>C - FANCI_000074 - - - - Despoina Kalfakakou
./. - c.241T>C r.(=) p.(=) g.89804027T>C - FANCI_000126 - - - - Despoina Kalfakakou
./. - c.286G>A r.(?) p.(Glu96Lys) g.89804072G>A - FANCI_000114 - - - - Despoina Kalfakakou
./. - c.286G>A r.(?) p.(Glu96Lys) g.89804072G>A - FANCI_000114 - - - - Despoina Kalfakakou
./. - c.288+10C>T r.(=) p.(=) g.89804084C>T - FANCI_000084 - - - - Despoina Kalfakakou
./. - c.288+10C>T r.(=) p.(=) g.89804084C>T - FANCI_000084 - - - - Despoina Kalfakakou
./. - c.446-37A>G r.(=) p.(=) g.89805015A>G - FANCI_000125 - - - - Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - - - Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - - - Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - - - Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - - - Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - - - Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - - - Despoina Kalfakakou
./. - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - - - Despoina Kalfakakou
./. - c.446-6T>G r.(=) p.(=) g.89805046T>G - FANCI_000052 - - - - Despoina Kalfakakou
./. - c.446-6T>G r.(=) p.(=) g.89805046T>G - FANCI_000052 - - - - Despoina Kalfakakou
./. - c.446-6T>G r.(=) p.(=) g.89805046T>G - FANCI_000052 - - - - Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - - - Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - - - Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - - - Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - - - Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - - - Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - - - Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - - - Despoina Kalfakakou
./. - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - - - Despoina Kalfakakou
./. - c.546-48C>A r.(=) p.(=) g.89807086C>A - FANCI_000080 - - - - Despoina Kalfakakou
./. - c.546-4A>G r.spl? p.? g.89807130A>G - FANCI_000121 - - - - Despoina Kalfakakou
./. - c.593C>T r.(?) p.(Ala198Val) g.89807181C>T - FANCI_000078 - - - - Despoina Kalfakakou
./. - c.669+43C>A r.(=) p.(=) g.89807300C>A - FANCI_000066 - - - - Despoina Kalfakakou
./. - c.670-29del r.(=) p.(=) g.89807724del - FANCI_000060 - - - - Despoina Kalfakakou
./. - c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G - FANCI_000047 - - - - Despoina Kalfakakou
./. - c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G - FANCI_000047 - - - - Despoina Kalfakakou
./. - c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G - FANCI_000047 - - - - Despoina Kalfakakou
./. - c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G - FANCI_000047 - - - - Despoina Kalfakakou
./. - c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G - FANCI_000047 - - - - Despoina Kalfakakou
./. - c.755+43C>A r.(=) p.(=) g.89807881C>A - FANCI_000063 - - - - Despoina Kalfakakou
./. - c.755+50T>C r.(=) p.(=) g.89807888T>C - FANCI_000131 - - - - Despoina Kalfakakou
./. - c.756-8T>C r.(=) p.(=) g.89811622T>C - FANCI_000083 - - - - Despoina Kalfakakou
./. - c.824T>C r.(?) p.(Ile275Thr) g.89811698T>C - FANCI_000072 - - - - Despoina Kalfakakou
./. - c.824T>C r.(?) p.(Ile275Thr) g.89811698T>C - FANCI_000072 - - - - Despoina Kalfakakou
./. - c.839A>G r.(?) p.(Lys280Arg) g.89811713A>G - FANCI_000048 - - - - Despoina Kalfakakou
./. - c.839A>G r.(?) p.(Lys280Arg) g.89811713A>G - FANCI_000048 - - - - Despoina Kalfakakou
./. - c.839A>G r.(?) p.(Lys280Arg) g.89811713A>G - FANCI_000048 - - - - Despoina Kalfakakou
./. - c.839A>G r.(?) p.(Lys280Arg) g.89811713A>G - FANCI_000048 - - - - Despoina Kalfakakou
./. - c.919C>G r.(?) p.(Pro307Ala) g.89816644C>G - FANCI_000053 - - - - Despoina Kalfakakou
./. - c.920C>T r.(?) p.(Pro307Leu) g.89816645C>T - FANCI_000054 - - - - Despoina Kalfakakou
./. - c.975+10T>A r.(=) p.(=) g.89816710T>A - FANCI_000070 - - - - Despoina Kalfakakou
./. - c.975+11A>T r.(=) p.(=) g.89816711A>T - FANCI_000107 - - - - Despoina Kalfakakou
./. - c.975+39T>C r.(=) p.(=) g.89816739T>C - FANCI_000128 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. - c.975+42_975+43insGA r.(=) p.(=) g.89816742_89816743insGA - FANCI_000023 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. - c.975+43_975+44del r.(=) p.(=) g.89816743_89816744del - FANCI_000025 - - - - Despoina Kalfakakou
./. - c.975+43_975+44insAA r.(=) p.(=) g.89816743_89816744insAA - FANCI_000132 - - - - Despoina Kalfakakou
./. - c.975+43_975+44insAAA r.(=) p.(=) g.89816743_89816744insAAA - FANCI_000029 - - - - Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 - - - - Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 - - - - Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 - - - - Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 - - - - Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 - - - - Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 - - - - Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 - - - - Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 - - - - Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 - - - - Despoina Kalfakakou
./. - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 - - - - Despoina Kalfakakou
Legend   « First ‹ Prev     1 2 3 4     Next › Last »