Unique variants in gene FANCI

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

131 entries on 2 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.-19-9C>G r.(=) p.(=) g.89790851C>G - FANCI_000076 - - - - Despoina Kalfakakou
./. 3 - c.84+39C>T r.(=) p.(=) g.89791001C>T - FANCI_000056 - - - - Despoina Kalfakakou
./. 2 - c.85-31C>G r.(=) p.(=) g.89801904C>G - FANCI_000111 - - - - Despoina Kalfakakou
./. 1 - c.92A>G r.(?) p.(Asn31Ser) g.89801942A>G - FANCI_000117 - - - - Despoina Kalfakakou
./. 2 - c.157+25G>C r.(=) p.(=) g.89802032G>C - FANCI_000112 - - - - Despoina Kalfakakou
./. 1 - c.158-37A>C r.(=) p.(=) g.89803907A>C - FANCI_000074 - - - - Despoina Kalfakakou
./. 1 - c.241T>C r.(=) p.(=) g.89804027T>C - FANCI_000126 - - - - Despoina Kalfakakou
./. 2 - c.286G>A r.(?) p.(Glu96Lys) g.89804072G>A - FANCI_000114 - - - - Despoina Kalfakakou
./. 2 - c.288+10C>T r.(=) p.(=) g.89804084C>T - FANCI_000084 - - - - Despoina Kalfakakou
./. 1 - c.446-37A>G r.(=) p.(=) g.89805015A>G - FANCI_000125 - - - - Despoina Kalfakakou
./. 7 - c.446-32A>G r.(=) p.(=) g.89805020A>G - FANCI_000027 - - - - Despoina Kalfakakou
./. 3 - c.446-6T>G r.(=) p.(=) g.89805046T>G - FANCI_000052 - - - - Despoina Kalfakakou
./. 8 - c.504-49T>C r.(=) p.(=) g.89806601T>C - FANCI_000028 - - - - Despoina Kalfakakou
./. 1 - c.546-48C>A r.(=) p.(=) g.89807086C>A - FANCI_000080 - - - - Despoina Kalfakakou
./. 1 - c.546-4A>G r.spl? p.? g.89807130A>G - FANCI_000121 - - - - Despoina Kalfakakou
./. 1 - c.593C>T r.(?) p.(Ala198Val) g.89807181C>T - FANCI_000078 - - - - Despoina Kalfakakou
./. 1 - c.669+43C>A r.(=) p.(=) g.89807300C>A - FANCI_000066 - - - - Despoina Kalfakakou
./. 1 - c.670-29del r.(=) p.(=) g.89807724del - FANCI_000060 - - - - Despoina Kalfakakou
./. 5 - c.712A>G r.(?) p.(Ser238Gly) g.89807795A>G - FANCI_000047 - - - - Despoina Kalfakakou
./. 1 - c.755+43C>A r.(=) p.(=) g.89807881C>A - FANCI_000063 - - - - Despoina Kalfakakou
./. 1 - c.755+50T>C r.(=) p.(=) g.89807888T>C - FANCI_000131 - - - - Despoina Kalfakakou
./. 1 - c.756-8T>C r.(=) p.(=) g.89811622T>C - FANCI_000083 - - - - Despoina Kalfakakou
./. 2 - c.824T>C r.(?) p.(Ile275Thr) g.89811698T>C - FANCI_000072 - - - - Despoina Kalfakakou
./. 4 - c.839A>G r.(?) p.(Lys280Arg) g.89811713A>G - FANCI_000048 - - - - Despoina Kalfakakou
./. 1 - c.919C>G r.(?) p.(Pro307Ala) g.89816644C>G - FANCI_000053 - - - - Despoina Kalfakakou
./. 1 - c.920C>T r.(?) p.(Pro307Leu) g.89816645C>T - FANCI_000054 - - - - Despoina Kalfakakou
./. 1 - c.975+10T>A r.(=) p.(=) g.89816710T>A - FANCI_000070 - - - - Despoina Kalfakakou
./. 1 - c.975+11A>T r.(=) p.(=) g.89816711A>T - FANCI_000107 - - - - Despoina Kalfakakou
./. 1 - c.975+39T>C r.(=) p.(=) g.89816739T>C - FANCI_000128 - - - - Despoina Kalfakakou
./. 13 - c.975+42_975+43insG r.(=) p.(=) g.89816742_89816743insG - FANCI_000022 - - - - Despoina Kalfakakou
./. 1 - c.975+42_975+43insGA r.(=) p.(=) g.89816742_89816743insGA - FANCI_000023 - - - - Despoina Kalfakakou
./. 15 - c.975+43del r.(=) p.(=) g.89816743del - FANCI_000024 - - - - Despoina Kalfakakou
./. 1 - c.975+43_975+44del r.(=) p.(=) g.89816743_89816744del - FANCI_000025 - - - - Despoina Kalfakakou
./. 1 - c.975+43_975+44insAA r.(=) p.(=) g.89816743_89816744insAA - FANCI_000132 - - - - Despoina Kalfakakou
./. 1 - c.975+43_975+44insAAA r.(=) p.(=) g.89816743_89816744insAAA - FANCI_000029 - - - - Despoina Kalfakakou
./. 13 - c.976-13A>T r.(=) p.(=) g.89817386A>T - FANCI_000026 - - - - Despoina Kalfakakou
./. 1 - c.1113-40C>T r.(=) p.(=) g.89819902C>T - FANCI_000097 - - - - Despoina Kalfakakou
./. 1 - c.1113-11T>C r.(=) p.(=) g.89819931T>C - FANCI_000122 - - - - Despoina Kalfakakou
./. 1 - c.1187A>G r.(?) p.(Lys396Arg) g.89820016A>G - FANCI_000050 - - - - Despoina Kalfakakou
./. 1 - c.1213G>A r.(?) p.(Glu405Lys) g.89820042G>A - FANCI_000124 - - - - Despoina Kalfakakou
./. 1 - c.1293+48C>G r.(=) p.(=) g.89820170C>G - FANCI_000088 - - - - Despoina Kalfakakou
./. 1 - c.1305G>A r.(?) p.(Met435Ile) g.89821929G>A - FANCI_000089 - - - - Despoina Kalfakakou
./. 1 - c.1381+33_1381+34insA r.(=) p.(=) g.89822038_89822039insA - FANCI_000030 - - - - Despoina Kalfakakou
./. 3 - c.1479T>G r.(=) p.(=) g.89824498T>G - FANCI_000067 - - - - Despoina Kalfakakou
./. 6 - c.1491A>G r.(=) p.(=) g.89824510A>G - FANCI_000017 - - - - Despoina Kalfakakou
./. 1 - c.1519C>G r.(?) p.(Leu507Val) g.89825002C>G - FANCI_000127 - - - - Despoina Kalfakakou
./. 9 - c.1573A>G r.(?) p.(Met525Val) g.89825056A>G - FANCI_000018 - - - - Despoina Kalfakakou
./. 1 - c.1583+43A>G r.(=) p.(=) g.89825109A>G - FANCI_000106 - - - - Despoina Kalfakakou
./. 1 - c.1584-15C>G r.(=) p.(=) g.89826352C>G - FANCI_000108 - - - - Despoina Kalfakakou
./. 2 - c.1597C>T r.(?) p.(Arg533*) g.89826380C>T - FANCI_000051 - - - - Despoina Kalfakakou
./. 1 - c.1699-21A>G r.(=) p.(=) g.89828306A>G - FANCI_000019 - - - - Despoina Kalfakakou
./. 1 - c.1699-11C>A r.(=) p.(=) g.89828316C>A - FANCI_000031 - - - - Despoina Kalfakakou
./. 9 - c.1699-7C>A r.(=) p.(=) g.89828320C>A - FANCI_000032 rs28446881 - - - Despoina Kalfakakou
./. 3 - c.1749T>C r.(=) p.(=) g.89828377T>C - FANCI_000033 - - - - Despoina Kalfakakou
./. 1 - c.1758G>C r.(?) p.(Glu586Asp) g.89828386G>C - FANCI_000115 - - - - Despoina Kalfakakou
./. 20 - c.1813C>T r.(?) p.(Leu605Phe) g.89828441C>T - FANCI_000034 - - - - Despoina Kalfakakou
./. 11 - c.1821+33A>C r.(=) p.(=) g.89828482A>C - FANCI_000020 - - - - Despoina Kalfakakou
./. 1 - c.1822-33A>C r.(=) p.(=) g.89833411A>C - FANCI_000092 - - - - Despoina Kalfakakou
./. 5 - c.1890+40C>A r.(=) p.(=) g.89833552C>A - FANCI_000045 - - - - Despoina Kalfakakou
./. 1 - c.1890+40C>T r.(=) p.(=) g.89833552C>T - FANCI_000103 - - - - Despoina Kalfakakou
./. 1 - c.1891-10C>T r.(=) p.(=) g.89834834C>T - FANCI_000021 - - - - Despoina Kalfakakou
./. 3 - c.1893A>C r.(?) p.(Leu631Phe) g.89834846A>C - FANCI_000071 - - - - Despoina Kalfakakou
./. 1 - c.1954C>T r.(=) p.(=) g.89834907C>T - FANCI_000098 - - - - Despoina Kalfakakou
./. 4 - c.1963G>A r.(?) p.(Gly655Arg) g.89834916G>A - FANCI_000044 - - - - Despoina Kalfakakou
./. 1 - c.1988C>A r.(?) p.(Pro663Gln) g.89834941C>A - FANCI_000062 - - - - Despoina Kalfakakou
./. 1 - c.1992+27A>G r.(=) p.(=) g.89834972A>G - FANCI_000093 - - - - Despoina Kalfakakou
./. 1 - c.1992+29T>C r.(=) p.(=) g.89834974T>C - FANCI_000099 - - - - Despoina Kalfakakou
./. 13 - c.2011A>G r.(?) p.(Ile671Val) g.89835937A>G - FANCI_000005 - - - - Despoina Kalfakakou
./. 1 - c.2017C>T r.(?) p.(His673Tyr) g.89835943C>T - FANCI_000104 - - - - Despoina Kalfakakou
./. 2 - c.2050C>T r.(?) p.(Pro684Ser) g.89835976C>T - FANCI_000096 - - - - Despoina Kalfakakou
./. 1 - c.2085A>G r.(=) p.(=) g.89836011A>G - FANCI_000006 - - - - Despoina Kalfakakou
./. 1 - c.2170-33G>A r.(=) p.(=) g.89836140G>A - FANCI_000007 - - - - Despoina Kalfakakou
./. 1 - c.2170-12T>A r.(=) p.(=) g.89836161T>A - FANCI_000008 - - - - Despoina Kalfakakou
./. 1 - c.2185T>A r.(?) p.(Phe729Ile) g.89836188T>A - FANCI_000009 - - - - Despoina Kalfakakou
./. 1 - c.2292-23G>A r.(=) p.(=) g.89837041G>A - FANCI_000094 - - - - Despoina Kalfakakou
./. 1 - c.2292-11_2292-10insT r.spl? p.? g.89837053_89837054insT - FANCI_000118 - - - - Despoina Kalfakakou
./. 1 - c.2390C>T r.(?) p.(Ala797Val) g.89837162C>T - FANCI_000113 - - - - Despoina Kalfakakou
./. 1 - c.2457-18_2457-17insT r.(=) p.(=) g.89838128_89838129insT - FANCI_000043 - - - - Despoina Kalfakakou
./. 1 - c.2457-11_2457-8del r.spl? p.? g.89838135_89838138del - FANCI_000064 - - - - Despoina Kalfakakou
./. 34 - c.2487T>G r.(=) p.(=) g.89838176T>G - FANCI_000010 - - - - Despoina Kalfakakou
./. 13 - c.2604A>C r.(?) p.(Glu868Asp) g.89838293A>C - FANCI_000011 - - - - Despoina Kalfakakou
./. 2 - c.2646A>G r.(=) p.(=) g.89843040A>G - FANCI_000035 - - - - Despoina Kalfakakou
./. 1 - c.2804-23_2804-22del r.(=) p.(=) g.89843508_89843509del - FANCI_000068 - - - - Despoina Kalfakakou
./. 1 - c.2833G>C r.(?) p.(Glu945Gln) g.89843560G>C - FANCI_000012 - - - - Despoina Kalfakakou
./. 1 - c.2889+45C>T r.(=) p.(=) g.89843661C>T - FANCI_000049 - - - - Despoina Kalfakakou
./. 2 - c.2890-31A>G r.(=) p.(=) g.89844526A>G - FANCI_000069 - - - - Despoina Kalfakakou
./. 1 - c.2891G>A r.(?) p.(Arg964Lys) g.89844558G>A - FANCI_000085 - - - - Despoina Kalfakakou
./. 1 - c.2899T>C r.(=) p.(=) g.89844566T>C - FANCI_000123 - - - - Despoina Kalfakakou
./. 5 - c.2992C>T r.(?) p.(Pro998Ser) g.89844659C>T - FANCI_000061 - - - - Despoina Kalfakakou
./. 1 - c.3006+46C>A r.(=) p.(=) g.89844719C>A - FANCI_000036 - - - - Despoina Kalfakakou
./. 9 - c.3007-41T>C r.(=) p.(=) g.89847054T>C - FANCI_000037 rs28517718 - - - Despoina Kalfakakou
./. 1 - c.3010G>A r.(?) p.(Val1004Met) g.89847098G>A - FANCI_000116 - - - - Despoina Kalfakakou
./. 2 - c.3058+35T>C r.(=) p.(=) g.89847181T>C - FANCI_000120 rs74034405 - - - Despoina Kalfakakou
./. 1 - c.3059-45T>C r.(=) p.(=) g.89848301T>C - FANCI_000105 - - - - Despoina Kalfakakou
./. 2 - c.3059-4C>G r.spl? p.? g.89848342C>G - FANCI_000038 - - - - Despoina Kalfakakou
./. 1 - c.3059-4C>T r.spl? p.? g.89848342C>T - FANCI_000046 - - - - Despoina Kalfakakou
./. 1 - c.3113C>T r.(?) p.(Ser1038Leu) g.89848400C>T - FANCI_000013 - - - - Despoina Kalfakakou
./. 2 - c.3114G>A r.(=) p.(=) g.89848401G>A - FANCI_000109 - - - - Despoina Kalfakakou
./. 10 - c.3186+7_3186+8insG r.(=) p.(=) g.89848480_89848481insG - FANCI_000014 - - - - Despoina Kalfakakou
./. 1 - c.3186+23C>T r.(=) p.(=) g.89848496C>T - FANCI_000100 - - - - Despoina Kalfakakou
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