All transcript variants in gene FANCI

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

402 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.-19-9C>G r.(=) p.(=) g.89790851C>G - FANCI_000076 - - Germline - - - - Despoina Kalfakakou
?/? - c.84+39C>T r.(=) p.(=) g.89791001C>T - FANCI_000056 - - Germline - - - - Despoina Kalfakakou
?/? - c.84+39C>T r.(=) p.(=) g.89791001C>T - FANCI_000056 - - Germline - - - - Despoina Kalfakakou
?/? - c.84+39C>T r.(=) p.(=) g.89791001C>T - FANCI_000056 - - Germline - - - - Despoina Kalfakakou
?/? - c.85-31C>G r.(=) p.(=) g.89801904C>G - FANCI_000111 - - Germline - - - - Despoina Kalfakakou
?/? - c.85-31C>G r.(=) p.(=) g.89801904C>G - FANCI_000111 - - Germline - - - - Despoina Kalfakakou
?/? - c.92A>G r.(?) p.(Asn31Ser) g.89801942A>G - FANCI_000117 rs745341673 - Germline - - - - Despoina Kalfakakou
?/? - c.157+25G>C r.(=) p.(=) g.89802032G>C - FANCI_000112 - - Germline - - - - Despoina Kalfakakou
?/? - c.157+25G>C r.(=) p.(=) g.89802032G>C - FANCI_000112 - - Germline - - - - Despoina Kalfakakou
?/? - c.157+31C>T r.(=) p.(=) g.89802038C>T - FANCI_000134 - - Germline - - - - Despoina Kalfakakou
?/? - c.158-37A>C r.(=) p.(=) g.89803907A>C - FANCI_000074 - - Germline - - - - Despoina Kalfakakou
?/? - c.241T>C r.(=) p.(=) g.89804027T>C - FANCI_000126 rs1241855086 - Germline - - - - Despoina Kalfakakou
-/- - c.286G>A r.(?) p.(Glu96Lys) g.89804072G>A - FANCI_000114 rs149243307 - Germline - - - - Despoina Kalfakakou
-/- - c.286G>A r.(?) p.(Glu96Lys) g.89804072G>A - FANCI_000114 rs149243307 - Germline - - - - Despoina Kalfakakou
?/? - c.288+10C>T r.(=) p.(=) g.89804084C>T - FANCI_000084 rs370505986 - Germline - - - - Despoina Kalfakakou
?/? - c.288+10C>T r.(=) p.(=) g.89804084C>T - FANCI_000084 rs370505986 - Germline - - - - Despoina Kalfakakou
?/? - c.446-37A>G r.(=) p.(=) g.89805015A>G - FANCI_000125 - - Germline - - - - Despoina Kalfakakou
?/? - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - Germline - - - - Despoina Kalfakakou
?/? - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - Germline - - - - Despoina Kalfakakou
?/? - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - Germline - - - - Despoina Kalfakakou
?/? - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - Germline - - - - Despoina Kalfakakou
?/? - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - Germline - - - - Despoina Kalfakakou
?/? - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - Germline - - - - Despoina Kalfakakou
?/? - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.446-6T>G r.(=) p.(=) g.89805046T>G - FANCI_000052 rs377255054 - Germline - - - - Despoina Kalfakakou
-?/-? - c.446-6T>G r.(=) p.(=) g.89805046T>G - FANCI_000052 rs377255054 - Germline - - - - Despoina Kalfakakou
-?/-? - c.446-6T>G r.(=) p.(=) g.89805046T>G - FANCI_000052 rs377255054 - Germline - - - - Despoina Kalfakakou
?/? - c.503+45C>T r.(=) p.(=) g.89805154C>T - FANCI_000137 - - Germline - - - - Despoina Kalfakakou
?/? - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - Germline - - - - Despoina Kalfakakou
?/? - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - Germline - - - - Despoina Kalfakakou
?/? - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - Germline - - - - Despoina Kalfakakou
?/? - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - Germline - - - - Despoina Kalfakakou
?/? - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - Germline - - - - Despoina Kalfakakou
?/? - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - Germline - - - - Despoina Kalfakakou
?/? - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - Germline - - - - Despoina Kalfakakou
?/? - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - Germline - - - - Despoina Kalfakakou
?/? - c.546-48C>A r.(=) p.(=) g.89807086C>A - FANCI_000080 - - Germline - - - - Despoina Kalfakakou
?/? - c.546-4A>G r.spl? p.? g.89807130A>G - FANCI_000121 - - Germline - - - - Despoina Kalfakakou
?/? - c.593C>T r.(?) p.(Ala198Val) g.89807181C>T - FANCI_000078 - - Germline - - - - Despoina Kalfakakou
?/? - c.669+43C>A r.(=) p.(=) g.89807300C>A - FANCI_000066 - - Germline - - - - Despoina Kalfakakou
?/? - c.670-29del r.(=) p.(=) g.89807724del - FANCI_000060 - - Germline - - - - Despoina Kalfakakou
?/? - c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G - FANCI_000047 rs112932178 - Germline - - - - Despoina Kalfakakou
?/? - c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G - FANCI_000047 rs112932178 - Germline - - - - Despoina Kalfakakou
?/? - c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G - FANCI_000047 rs112932178 - Germline - - - - Despoina Kalfakakou
?/? - c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G - FANCI_000047 rs112932178 - Germline - - - - Despoina Kalfakakou
?/? - c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G - FANCI_000047 rs112932178 - Germline - - - - Despoina Kalfakakou
?/? - c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G - FANCI_000047 rs112932178 - Germline - - - - Despoina Kalfakakou
?/? - c.755+43C>A r.(=) p.(=) g.89807881C>A - FANCI_000063 - - Germline - - - - Despoina Kalfakakou
?/? - c.755+50T>C r.(=) p.(=) g.89807888T>C - FANCI_000131 - - Germline - - - - Despoina Kalfakakou
?/? - c.756-8T>C r.(=) p.(=) g.89811622T>C - FANCI_000083 - - Germline - - - - Despoina Kalfakakou
?/? - c.824T>C r.(?) p.(Ile275Thr) g.89811698T>C - FANCI_000072 rs142906652 - Germline - - - - Despoina Kalfakakou
?/? - c.824T>C r.(?) p.(Ile275Thr) g.89811698T>C - FANCI_000072 rs142906652 - Germline - - - - Despoina Kalfakakou
?/? - c.839A>G r.(?) p.(Lys280Arg) g.89811713A>G - FANCI_000048 rs772035961 - Germline - - - - Despoina Kalfakakou
?/? - c.839A>G r.(?) p.(Lys280Arg) g.89811713A>G - FANCI_000048 rs772035961 - Germline - - - - Despoina Kalfakakou
?/? - c.839A>G r.(?) p.(Lys280Arg) g.89811713A>G - FANCI_000048 rs772035961 - Germline - - - - Despoina Kalfakakou
?/? - c.839A>G r.(?) p.(Lys280Arg) g.89811713A>G - FANCI_000048 rs772035961 - Germline - - - - Despoina Kalfakakou
?/? - c.919C>G r.(?) p.(Pro307Ala) g.89816644C>G - FANCI_000053 - - Germline - - - - Despoina Kalfakakou
?/? - c.920C>T r.(?) p.(Pro307Leu) g.89816645C>T - FANCI_000054 rs1444100172 - Germline - - - - Despoina Kalfakakou
?/? - c.975+10T>A r.(=) p.(=) g.89816710T>A - FANCI_000070 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+11A>T r.(=) p.(=) g.89816711A>T - FANCI_000107 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+39T>C r.(=) p.(=) g.89816739T>C - FANCI_000128 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+42_975+43insGA r.(=) p.(=) g.89816742_89816743insGA - FANCI_000023 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43_975+44del r.(=) p.(=) g.89816743_89816744del - FANCI_000025 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43_975+44insAA r.(=) p.(=) g.89816743_89816744insAA - FANCI_000132 - - Germline - - - - Despoina Kalfakakou
?/? - c.975+43_975+44insAAA r.(=) p.(=) g.89816743_89816744insAAA - FANCI_000029 - - Germline - - - - Despoina Kalfakakou
?/? - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 rs145864790 - Germline - - - - Despoina Kalfakakou
?/? - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 rs145864790 - Germline - - - - Despoina Kalfakakou
?/? - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 rs145864790 - Germline - - - - Despoina Kalfakakou
?/? - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 rs145864790 - Germline - - - - Despoina Kalfakakou
?/? - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 rs145864790 - Germline - - - - Despoina Kalfakakou
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