Unique variants in gene FANCA

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

218 entries on 3 pages. Showing entries 1 - 100.
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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     
./. 1 - c.-28C>T r.(=) p.(=) g.89883051G>A - FANCA_000087 - - - - Despoina Kalfakakou
./. 1 - c.-21G>A r.(=) p.(=) g.89883044C>T - FANCA_000152 - - - - Despoina Kalfakakou
./. 1 - c.20C>A r.(?) p.(Pro7Gln) g.89883004G>T - FANCA_000142 - - - - Despoina Kalfakakou
./. 1 - c.50_51insG r.(?) p.(Arg18Profs*19) g.89882973_89882974insC - FANCA_000209 - - - - Despoina Kalfakakou
./. 5 - c.59G>A r.(?) p.(Arg20Lys) g.89882965C>T - FANCA_000111 - - - - Despoina Kalfakakou
./. 1 - c.79+21_79+43del r.(=) p.(=) g.89882902_89882924del - FANCA_000033 - - - - Despoina Kalfakakou
./. 2 - c.80-48C>G r.(=) p.(=) g.89882442G>C - FANCA_000086 - - - - Despoina Kalfakakou
./. 1 - c.80-16C>T r.(=) p.(=) g.89882410G>A - FANCA_000130 - - - - Despoina Kalfakakou
./. 22 - c.80-13C>T r.(=) p.(=) g.89882407G>A - FANCA_000011 - - - - Despoina Kalfakakou
./. 3 - c.81G>A r.(=) p.(=) g.89882393C>T - FANCA_000129 - - - - Despoina Kalfakakou
./. 1 - c.90C>G r.(=) p.(=) g.89882384G>C - FANCA_000219 - - - - Despoina Kalfakakou
./. 1 - c.189+20C>A r.(=) p.(=) g.89882265G>T - FANCA_000179 - - - - Despoina Kalfakakou
./. 1 - c.240_241del r.(?) p.(Cys80*) g.89880970_89880971del - FANCA_000072 - - - - Despoina Kalfakakou
./. 2 - c.342C>T r.(=) p.(=) g.89877421G>A - FANCA_000010 - - - - Despoina Kalfakakou
./. 2 - c.344G>A r.(?) p.(Gly115Glu) g.89877419C>T - FANCA_000009 - - - - Despoina Kalfakakou
./. 1 - c.371T>G r.(?) p.(Ile124Ser) g.89877392A>C - FANCA_000205 - - - - Despoina Kalfakakou
./. 6 - c.377C>G r.(?) p.(Thr126Arg) g.89877386G>C - FANCA_000052 - - - - Despoina Kalfakakou
./. 1 - c.386C>G r.(?) p.(Ala129Gly) g.89877377G>C - FANCA_000032 - - - - Despoina Kalfakakou
./. 1 - c.386C>T r.(?) p.(Ala129Val) g.89877377G>A - FANCA_000122 - - - - Despoina Kalfakakou
./. 1 - c.426+14A>G r.(=) p.(=) g.89877323T>C - FANCA_000151 - - - - Despoina Kalfakakou
./. 5 - c.426+32C>A r.(=) p.(=) g.89877305G>T - FANCA_000121 - - - - Despoina Kalfakakou
./. 1 - c.500G>A r.(?) p.(Cys167Tyr) g.89877137C>T - FANCA_000169 - - - - Despoina Kalfakakou
./. 1 - c.522+29C>T r.(=) p.(=) g.89877086G>A - FANCA_000051 - - - - Despoina Kalfakakou
./. 1 - c.522+30C>A r.(=) p.(=) g.89877085G>T - FANCA_000150 - - - - Despoina Kalfakakou
./. 1 - c.522+39A>C r.(=) p.(=) g.89877076T>G - FANCA_000031 - - - - Despoina Kalfakakou
./. 1 - c.523-43G>T r.(=) p.(=) g.89874818C>A - FANCA_000203 - - - - Despoina Kalfakakou
./. 1 - c.528T>C r.(=) p.(=) g.89874770A>G - FANCA_000217 - - - - Despoina Kalfakakou
./. 2 - c.537T>G r.(=) p.(=) g.89874761A>C - FANCA_000050 - - - - Despoina Kalfakakou
./. 1 - c.543G>A r.(=) p.(=) g.89874755C>T - FANCA_000071 - - - - Despoina Kalfakakou
./. 4 - c.549G>T r.(?) p.(Trp183Cys) g.89874749C>A - FANCA_000030 - - - - Despoina Kalfakakou
./. 1 - c.572T>G r.(?) p.(Val191Gly) g.89874726A>C - FANCA_000149 - - - - Despoina Kalfakakou
./. 10 - c.694A>C r.(=) p.(=) g.89871703T>G - FANCA_000049 rs61757384 - - - Despoina Kalfakakou
./. 1 - c.709+41T>C r.(=) p.(=) g.89871647A>G - FANCA_000201 - - - - Despoina Kalfakakou
./. 1 - c.709+51T>C r.(=) p.(=) g.89871637A>G - FANCA_000195 - - - - Despoina Kalfakakou
./. 1 - c.737G>A r.(?) p.(Gly246Glu) g.89869722C>T - FANCA_000008 - - - - Despoina Kalfakakou
./. 1 - c.767C>A r.(?) p.(Thr256Asn) g.89869692G>T - FANCA_000007 - - - - Despoina Kalfakakou
./. 1 - c.792+13G>A r.(=) p.(=) g.89869654C>T - FANCA_000144 - - - - Despoina Kalfakakou
./. 2 - c.792+28T>C r.(=) p.(=) g.89869639A>G - FANCA_000192 - - - - Despoina Kalfakakou
./. 1 - c.792+45C>T r.(=) p.(=) g.89869622G>A - FANCA_000216 - - - - Despoina Kalfakakou
./. 2 - c.793-9T>C r.(=) p.(=) g.89866055A>G - FANCA_000153 - - - - Despoina Kalfakakou
./. 1 - c.837C>T r.(=) p.(=) g.89865630G>A - FANCA_000176 - - - - Despoina Kalfakakou
./. 7 - c.869C>A r.(?) p.(Ser290Tyr) g.89865598G>T - FANCA_000079 - - - - Despoina Kalfakakou
./. 2 - c.893+23C>G r.(=) p.(=) g.89865551G>C - FANCA_000085 - - - - Despoina Kalfakakou
./. 2 - c.894-49G>A r.(=) p.(=) g.89862475C>T - FANCA_000098 - - - - Despoina Kalfakakou
./. 1 - c.898G>A r.(?) p.(Gly300Arg) g.89862422C>T - FANCA_000107 - - - - Despoina Kalfakakou
./. 3 - c.932T>C r.(?) p.(Ile311Thr) g.89862388A>G - FANCA_000097 rs75501942 - - - Despoina Kalfakakou
./. 3 - c.969C>G r.(=) p.(=) g.89862351G>C - FANCA_000048 - - - - Despoina Kalfakakou
./. 1 - c.990C>T r.(=) p.(=) g.89862330G>A - FANCA_000194 - - - - Despoina Kalfakakou
./. 4 - c.1006+36A>G r.(=) p.(=) g.89862278T>C - FANCA_000070 - - - - Despoina Kalfakakou
./. 1 - c.1007-12C>A r.(=) p.(=) g.89858967G>T - FANCA_000156 - - - - Despoina Kalfakakou
./. 1 - c.1083+41C>T r.(=) p.(=) g.89858838G>A - FANCA_000106 - - - - Despoina Kalfakakou
./. 1 - c.1084-37G>A r.(=) p.(=) g.89858513C>T - FANCA_000215 - - - - Despoina Kalfakakou
./. 1 - c.1100G>C r.(?) p.(Ser367Thr) g.89858460C>G - FANCA_000202 - - - - Despoina Kalfakakou
./. 1 - c.1127A>G r.(?) p.(Gln376Arg) g.89858433T>C - FANCA_000175 - - - - Despoina Kalfakakou
./. 1 - c.1154A>G r.(?) p.(His385Arg) g.89858406T>C - FANCA_000029 - - - - Despoina Kalfakakou
./. 1 - c.1225+21G>A r.(=) p.(=) g.89858314C>T - FANCA_000006 - - - - Despoina Kalfakakou
./. 1 - c.1225+24G>A r.(=) p.(=) g.89858311C>T - FANCA_000078 - - - - Despoina Kalfakakou
./. 1 - c.1226-38C>T r.(=) p.(=) g.89857982G>A - FANCA_000047 - - - - Despoina Kalfakakou
./. 1 - c.1290G>T r.(=) p.(=) g.89857880C>A - FANCA_000204 rs1800332 - - - Despoina Kalfakakou
./. 1 - c.1337T>C r.(?) p.(Leu446Pro) g.89857833A>G - FANCA_000211 - - - - Despoina Kalfakakou
./. 2 - c.1340C>T r.(?) p.(Ser447Leu) g.89857830G>A - FANCA_000101 - - - - Despoina Kalfakakou
./. 3 - c.1360-41C>T r.(=) p.(=) g.89851413G>A - FANCA_000128 - - - - Despoina Kalfakakou
./. 1 - c.1360-34C>T r.(=) p.(=) g.89851406G>A - FANCA_000174 - - - - Despoina Kalfakakou
./. 1 - c.1360-12C>T r.(=) p.(=) g.89851384G>A - FANCA_000046 - - - - Despoina Kalfakakou
./. 1 - c.1389T>C r.(=) p.(=) g.89851343A>G - FANCA_000148 - - - - Despoina Kalfakakou
./. 1 - c.1424C>T r.(?) p.(Thr475Met) g.89851308G>A - FANCA_000155 - - - - Despoina Kalfakakou
./. 1 - c.1471-52G>A r.(=) p.(=) g.89849562C>T - FANCA_000077 - - - - Despoina Kalfakakou
./. 4 - c.1471-12A>G r.(=) p.(=) g.89849522T>C - FANCA_000105 rs9282684 - - - Despoina Kalfakakou
./. 1 - c.1471-10C>G r.(=) p.(=) g.89849520G>C - FANCA_000180 - - - - Despoina Kalfakakou
./. 1 - c.1566+21C>T r.(=) p.(=) g.89849394G>A - FANCA_000162 - - - - Despoina Kalfakakou
./. 1 - c.1566+23C>T r.(=) p.(=) g.89849392G>A - FANCA_000183 - - - - Despoina Kalfakakou
./. 1 - c.1566+31A>G r.(=) p.(=) g.89849384T>C - FANCA_000189 - - - - Despoina Kalfakakou
./. 1 - c.1626+39C>T r.(=) p.(=) g.89849228G>A - FANCA_000104 - - - - Despoina Kalfakakou
./. 1 - c.1627-3C>T r.spl? p.? g.89846368G>A - FANCA_000028 - - - - Despoina Kalfakakou
./. 1 - c.1661C>A r.(?) p.(Ala554Asp) g.89846331G>T - FANCA_000206 - - - - Despoina Kalfakakou
./. 1 - c.1716-47C>T r.(=) p.(=) g.89845458G>A - FANCA_000141 - - - - Despoina Kalfakakou
./. 2 - c.1734C>T r.(=) p.(=) g.89845393G>A - FANCA_000103 - - - - Despoina Kalfakakou
./. 1 - c.1737C>T r.(=) p.(=) g.89845390G>A - FANCA_000096 - - - - Despoina Kalfakakou
./. 2 - c.1750C>G r.(?) p.(Leu584Val) g.89845377G>C - FANCA_000140 - - - - Despoina Kalfakakou
./. 1 - c.1756G>A r.(?) p.(Ala586Thr) g.89845371C>T - FANCA_000045 - - - - Despoina Kalfakakou
./. 1 - c.1776+11G>A r.(=) p.(=) g.89845340C>T - FANCA_000182 - - - - Despoina Kalfakakou
./. 2 - c.1776+16C>T r.(=) p.(=) g.89845335G>A - FANCA_000208 - - - - Despoina Kalfakakou
./. 1 - c.1776+33T>C r.(=) p.(=) g.89845318A>G - FANCA_000076 - - - - Despoina Kalfakakou
./. 1 - c.1776+44G>A r.(=) p.(=) g.89845307C>T - FANCA_000027 - - - - Despoina Kalfakakou
./. 2 - c.1777-41_1777-38del r.(=) p.(=) g.89845296_89845299del - FANCA_000095 rs56163653 - - - Despoina Kalfakakou
./. 1 - c.1803G>A r.(=) p.(=) g.89845232C>T - FANCA_000102 - - - - Despoina Kalfakakou
./. 27 - c.1826+12C>T r.(=) p.(=) g.89845197G>A - FANCA_000005 - - - - Despoina Kalfakakou
./. 2 - c.1827-43T>A r.(=) p.(=) g.89842266A>T - FANCA_000114 - - - - Despoina Kalfakakou
./. 2 - c.1827-40del r.(=) p.(=) g.89842263del - FANCA_000113 - - - - Despoina Kalfakakou
./. 1 - c.1827-34G>C r.(=) p.(=) g.89842257C>G - FANCA_000127 - - - - Despoina Kalfakakou
./. 1 - c.1827-22G>T r.(=) p.(=) g.89842245C>A - FANCA_000184 - - - - Despoina Kalfakakou
./. 10 - c.1830A>G r.(=) p.(=) g.89842220T>C - FANCA_000044 rs1800338 - - - Despoina Kalfakakou
./. 2 - c.1851G>A r.(=) p.(=) g.89842199C>T - FANCA_000188 - - - - Despoina Kalfakakou
./. 32 - c.1874G>C r.(?) p.(Cys625Ser) g.89842176C>G - FANCA_000004 - - - - Despoina Kalfakakou
./. 1 - c.1897G>C r.(?) p.(Glu633Gln) g.89842153C>G - FANCA_000214 - - - - Despoina Kalfakakou
./. 2 - c.1960A>G r.(?) p.(Thr654Ala) g.89839733T>C - FANCA_000062 - - - - Despoina Kalfakakou
./. 1 - c.2009G>A r.(?) p.(Arg670His) g.89839684C>T - FANCA_000061 - - - - Despoina Kalfakakou
./. 2 - c.2014+20C>T r.(=) p.(=) g.89839659G>A - FANCA_000119 - - - - Despoina Kalfakakou
./. 1 - c.2014+33_2014+34del r.(=) p.(=) g.89839645_89839646del - FANCA_000060 - - - - Despoina Kalfakakou
./. 5 - c.2015-45C>G r.(=) p.(=) g.89838267G>C - FANCA_000059 - - - - Despoina Kalfakakou
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