All transcript variants in gene FANCA

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

594 entries on 6 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     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.-28C>T r.(=) p.(=) g.89883051G>A - FANCA_000087 - - - - Despoina Kalfakakou
./. - c.-21G>A r.(=) p.(=) g.89883044C>T - FANCA_000152 - - - - Despoina Kalfakakou
./. - c.20C>A r.(?) p.(Pro7Gln) g.89883004G>T - FANCA_000142 - - - - Despoina Kalfakakou
./. - c.50_51insG r.(?) p.(Arg18Profs*19) g.89882973_89882974insC - FANCA_000209 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.89882965C>T - FANCA_000111 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.89882965C>T - FANCA_000111 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.89882965C>T - FANCA_000111 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.89882965C>T - FANCA_000111 - - - - Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) g.89882965C>T - FANCA_000111 - - - - Despoina Kalfakakou
./. - c.79+21_79+43del r.(=) p.(=) g.89882902_89882924del - FANCA_000033 - - - - Despoina Kalfakakou
./. - c.80-48C>G r.(=) p.(=) g.89882442G>C - FANCA_000086 - - - - Despoina Kalfakakou
./. - c.80-48C>G r.(=) p.(=) g.89882442G>C - FANCA_000086 - - - - Despoina Kalfakakou
./. - c.80-16C>T r.(=) p.(=) g.89882410G>A - FANCA_000130 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. - c.81G>A r.(=) p.(=) g.89882393C>T - FANCA_000129 - - - - Despoina Kalfakakou
./. - c.81G>A r.(=) p.(=) g.89882393C>T - FANCA_000129 - - - - Despoina Kalfakakou
./. - c.81G>A r.(=) p.(=) g.89882393C>T - FANCA_000129 - - - - Despoina Kalfakakou
./. - c.90C>G r.(=) p.(=) g.89882384G>C - FANCA_000219 - - - - Despoina Kalfakakou
./. - c.189+20C>A r.(=) p.(=) g.89882265G>T - FANCA_000179 - - - - Despoina Kalfakakou
./. - c.240_241del r.(?) p.(Cys80*) g.89880970_89880971del - FANCA_000072 - - - - Despoina Kalfakakou
./. - c.342C>T r.(=) p.(=) g.89877421G>A - FANCA_000010 - - - - Despoina Kalfakakou
./. - c.342C>T r.(=) p.(=) g.89877421G>A - FANCA_000010 - - - - Despoina Kalfakakou
./. - c.344G>A r.(?) p.(Gly115Glu) g.89877419C>T - FANCA_000009 - - - - Despoina Kalfakakou
./. - c.344G>A r.(?) p.(Gly115Glu) g.89877419C>T - FANCA_000009 - - - - Despoina Kalfakakou
./. - c.371T>G r.(?) p.(Ile124Ser) g.89877392A>C - FANCA_000205 - - - - Despoina Kalfakakou
./. - c.377C>G r.(?) p.(Thr126Arg) g.89877386G>C - FANCA_000052 - - - - Despoina Kalfakakou
./. - c.377C>G r.(?) p.(Thr126Arg) g.89877386G>C - FANCA_000052 - - - - Despoina Kalfakakou
./. - c.377C>G r.(?) p.(Thr126Arg) g.89877386G>C - FANCA_000052 - - - - Despoina Kalfakakou
./. - c.377C>G r.(?) p.(Thr126Arg) g.89877386G>C - FANCA_000052 - - - - Despoina Kalfakakou
./. - c.377C>G r.(?) p.(Thr126Arg) g.89877386G>C - FANCA_000052 - - - - Despoina Kalfakakou
./. - c.377C>G r.(?) p.(Thr126Arg) g.89877386G>C - FANCA_000052 - - - - Despoina Kalfakakou
./. - c.386C>G r.(?) p.(Ala129Gly) g.89877377G>C - FANCA_000032 - - - - Despoina Kalfakakou
./. - c.386C>T r.(?) p.(Ala129Val) g.89877377G>A - FANCA_000122 - - - - Despoina Kalfakakou
./. - c.426+14A>G r.(=) p.(=) g.89877323T>C - FANCA_000151 - - - - Despoina Kalfakakou
./. - c.426+32C>A r.(=) p.(=) g.89877305G>T - FANCA_000121 - - - - Despoina Kalfakakou
./. - c.426+32C>A r.(=) p.(=) g.89877305G>T - FANCA_000121 - - - - Despoina Kalfakakou
./. - c.426+32C>A r.(=) p.(=) g.89877305G>T - FANCA_000121 - - - - Despoina Kalfakakou
./. - c.426+32C>A r.(=) p.(=) g.89877305G>T - FANCA_000121 - - - - Despoina Kalfakakou
./. - c.426+32C>A r.(=) p.(=) g.89877305G>T - FANCA_000121 - - - - Despoina Kalfakakou
./. - c.500G>A r.(?) p.(Cys167Tyr) g.89877137C>T - FANCA_000169 - - - - Despoina Kalfakakou
./. - c.522+29C>T r.(=) p.(=) g.89877086G>A - FANCA_000051 - - - - Despoina Kalfakakou
./. - c.522+30C>A r.(=) p.(=) g.89877085G>T - FANCA_000150 - - - - Despoina Kalfakakou
./. - c.522+39A>C r.(=) p.(=) g.89877076T>G - FANCA_000031 - - - - Despoina Kalfakakou
./. - c.523-43G>T r.(=) p.(=) g.89874818C>A - FANCA_000203 - - - - Despoina Kalfakakou
./. - c.528T>C r.(=) p.(=) g.89874770A>G - FANCA_000217 - - - - Despoina Kalfakakou
./. - c.537T>G r.(=) p.(=) g.89874761A>C - FANCA_000050 - - - - Despoina Kalfakakou
./. - c.537T>G r.(=) p.(=) g.89874761A>C - FANCA_000050 - - - - Despoina Kalfakakou
./. - c.543G>A r.(=) p.(=) g.89874755C>T - FANCA_000071 - - - - Despoina Kalfakakou
./. - c.549G>T r.(?) p.(Trp183Cys) g.89874749C>A - FANCA_000030 - - - - Despoina Kalfakakou
./. - c.549G>T r.(?) p.(Trp183Cys) g.89874749C>A - FANCA_000030 - - - - Despoina Kalfakakou
./. - c.549G>T r.(?) p.(Trp183Cys) g.89874749C>A - FANCA_000030 - - - - Despoina Kalfakakou
./. - c.549G>T r.(?) p.(Trp183Cys) g.89874749C>A - FANCA_000030 - - - - Despoina Kalfakakou
./. - c.572T>G r.(?) p.(Val191Gly) g.89874726A>C - FANCA_000149 - - - - Despoina Kalfakakou
./. - c.694A>C r.(=) p.(=) g.89871703T>G - FANCA_000049 rs61757384 - - - Despoina Kalfakakou
./. - c.694A>C r.(=) p.(=) g.89871703T>G - FANCA_000049 rs61757384 - - - Despoina Kalfakakou
./. - c.694A>C r.(=) p.(=) g.89871703T>G - FANCA_000049 rs61757384 - - - Despoina Kalfakakou
./. - c.694A>C r.(=) p.(=) g.89871703T>G - FANCA_000049 rs61757384 - - - Despoina Kalfakakou
./. - c.694A>C r.(=) p.(=) g.89871703T>G - FANCA_000049 rs61757384 - - - Despoina Kalfakakou
./. - c.694A>C r.(=) p.(=) g.89871703T>G - FANCA_000049 rs61757384 - - - Despoina Kalfakakou
./. - c.694A>C r.(=) p.(=) g.89871703T>G - FANCA_000049 rs61757384 - - - Despoina Kalfakakou
./. - c.694A>C r.(=) p.(=) g.89871703T>G - FANCA_000049 rs61757384 - - - Despoina Kalfakakou
./. - c.694A>C r.(=) p.(=) g.89871703T>G - FANCA_000049 rs61757384 - - - Despoina Kalfakakou
./. - c.694A>C r.(=) p.(=) g.89871703T>G - FANCA_000049 rs61757384 - - - Despoina Kalfakakou
./. - c.709+41T>C r.(=) p.(=) g.89871647A>G - FANCA_000201 - - - - Despoina Kalfakakou
./. - c.709+51T>C r.(=) p.(=) g.89871637A>G - FANCA_000195 - - - - Despoina Kalfakakou
./. - c.737G>A r.(?) p.(Gly246Glu) g.89869722C>T - FANCA_000008 - - - - Despoina Kalfakakou
./. - c.767C>A r.(?) p.(Thr256Asn) g.89869692G>T - FANCA_000007 - - - - Despoina Kalfakakou
./. - c.792+13G>A r.(=) p.(=) g.89869654C>T - FANCA_000144 - - - - Despoina Kalfakakou
./. - c.792+28T>C r.(=) p.(=) g.89869639A>G - FANCA_000192 - - - - Despoina Kalfakakou
./. - c.792+28T>C r.(=) p.(=) g.89869639A>G - FANCA_000192 - - - - Despoina Kalfakakou
./. - c.792+45C>T r.(=) p.(=) g.89869622G>A - FANCA_000216 - - - - Despoina Kalfakakou
./. - c.793-9T>C r.(=) p.(=) g.89866055A>G - FANCA_000153 - - - - Despoina Kalfakakou
./. - c.793-9T>C r.(=) p.(=) g.89866055A>G - FANCA_000153 - - - - Despoina Kalfakakou
./. - c.837C>T r.(=) p.(=) g.89865630G>A - FANCA_000176 - - - - Despoina Kalfakakou
./. - c.869C>A r.(?) p.(Ser290Tyr) g.89865598G>T - FANCA_000079 - - - - Despoina Kalfakakou
./. - c.869C>A r.(?) p.(Ser290Tyr) g.89865598G>T - FANCA_000079 - - - - Despoina Kalfakakou
./. - c.869C>A r.(?) p.(Ser290Tyr) g.89865598G>T - FANCA_000079 - - - - Despoina Kalfakakou
./. - c.869C>A r.(?) p.(Ser290Tyr) g.89865598G>T - FANCA_000079 - - - - Despoina Kalfakakou
./. - c.869C>A r.(?) p.(Ser290Tyr) g.89865598G>T - FANCA_000079 - - - - Despoina Kalfakakou
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