Unique variants in gene EGFR

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

85 entries on 1 page. Showing entries 1 - 85.
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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.-45C>T r.(=) p.(=) g.55086926C>T - EGFR_000035 - - - - Despoina Kalfakakou
./. 1 - c.18G>C r.(=) p.(=) g.55086988G>C - EGFR_000054 - - - - Despoina Kalfakakou
./. 1 - c.114C>T r.(=) p.(=) g.55210004C>T - EGFR_000081 - - - - Despoina Kalfakakou
./. 10 - c.241-8C>G r.(=) p.(=) g.55210990C>G - EGFR_000013 - - - - Despoina Kalfakakou
./. 9 - c.379G>A r.(?) p.(Ala127Thr) g.55211136G>A - EGFR_000014 - - - - Despoina Kalfakakou
./. 9 - c.425-4G>A r.spl? p.? g.55214295G>A - EGFR_000012 - - - - Despoina Kalfakakou
./. 3 - c.446G>A r.(?) p.(Arg149Gln) g.55214320G>A - EGFR_000048 - - - - Despoina Kalfakakou
./. 1 - c.493C>T r.(?) p.(Arg165Trp) g.55214367C>T - EGFR_000047 - - - - Despoina Kalfakakou
./. 1 - c.532A>G r.(?) p.(Met178Val) g.55214406A>G - EGFR_000072 - - - - Despoina Kalfakakou
./. 1 - c.628+28_628+29del r.(=) p.(=) g.55219083_55219084del - EGFR_000066 - - - - Despoina Kalfakakou
./. 1 - c.628+34A>G r.(=) p.(=) g.55219089A>G - EGFR_000005 - - - - Despoina Kalfakakou
./. 1 - c.647C>T r.(?) p.(Ala216Val) g.55220257C>T - EGFR_000079 - - - - Despoina Kalfakakou
./. 1 - c.671G>A r.(?) p.(Arg224His) g.55220281G>A - EGFR_000071 - - - - Despoina Kalfakakou
./. 1 - c.726C>T r.(=) p.(=) g.55220336C>T - EGFR_000073 - - - - Despoina Kalfakakou
./. 1 - c.748-39C>T r.(=) p.(=) g.55221665C>T - EGFR_000055 - - - - Despoina Kalfakakou
./. 1 - c.889C>T r.(?) p.(Arg297Cys) g.55221845C>T - EGFR_000033 - - - - Despoina Kalfakakou
./. 3 - c.889+18G>T r.(=) p.(=) g.55221863G>T - EGFR_000002 rs41323746 - - - Despoina Kalfakakou
./. 1 - c.1006+43G>A r.(=) p.(=) g.55223682G>A - EGFR_000085 - - - - Despoina Kalfakakou
./. 1 - c.1091C>A r.(?) p.(Ser364Tyr) g.55224310C>A - EGFR_000042 - - - - Despoina Kalfakakou
./. 1 - c.1119G>A r.(=) p.(=) g.55224338G>A - EGFR_000036 rs2302536 - - - Despoina Kalfakakou
./. 1 - c.1133G>A r.(?) p.(Gly378Asp) g.55224352G>A - EGFR_000070 - - - - Despoina Kalfakakou
./. 1 - c.1134-34T>C r.(=) p.(=) g.55224418T>C - EGFR_000031 - - - - Despoina Kalfakakou
./. 2 - c.1134-25A>G r.(=) p.(=) g.55224427A>G - EGFR_000058 - - - - Despoina Kalfakakou
./. 1 - c.1208-21A>G r.(=) p.(=) g.55225335A>G - EGFR_000003 - - - - Despoina Kalfakakou
./. 2 - c.1498+30G>A r.(=) p.(=) g.55228061G>A - EGFR_000043 - - - - Despoina Kalfakakou
./. 1 - c.1499-48G>A r.(=) p.(=) g.55229144G>A - EGFR_000082 - - - - Despoina Kalfakakou
./. 4 - c.1499-4G>A r.spl? p.? g.55229188G>A - EGFR_000032 - - - - Despoina Kalfakakou
./. 1 - c.1526T>G r.(?) p.(Leu509Trp) g.55229219T>G - EGFR_000044 - - - - Despoina Kalfakakou
./. 3 - c.1536C>T r.(=) p.(=) g.55229229C>T - EGFR_000026 - - - - Despoina Kalfakakou
./. 1 - c.1570G>A r.(?) p.(Val524Ile) g.55229263G>A - EGFR_000045 - - - - Despoina Kalfakakou
./. 1 - c.1632-24C>T r.(=) p.(=) g.55231402C>T - EGFR_000027 - - - - Despoina Kalfakakou
./. 4 - c.1821C>T r.(=) p.(=) g.55233071C>T - EGFR_000050 - - - - Despoina Kalfakakou
./. 2 - c.1830C>T r.(=) p.(=) g.55233080C>T - EGFR_000028 - - - - Despoina Kalfakakou
./. 1 - c.1875C>T r.(=) p.(=) g.55233125C>T - EGFR_000064 - - - - Despoina Kalfakakou
./. 1 - c.1880+42C>T r.(=) p.(=) g.55233172C>T - EGFR_000029 - - - - Despoina Kalfakakou
./. 1 - c.1896T>G r.(=) p.(=) g.55238883T>G - EGFR_000065 - - - - Despoina Kalfakakou
./. 1 - c.1919+15_1919+16del r.(=) p.(=) g.55238921_55238922del - EGFR_000067 - - - - Despoina Kalfakakou
./. 2 - c.1919+34C>G r.(=) p.(=) g.55238940C>G - EGFR_000030 - - - - Despoina Kalfakakou
./. 53 - c.1919+35G>A r.(=) p.(=) g.55238941G>A - EGFR_000004 rs17290246 - - - Despoina Kalfakakou
./. 1 - c.1932G>A r.(=) p.(=) g.55240688G>A - EGFR_000019 - - - - Despoina Kalfakakou
./. 6 - c.2024G>A r.(?) p.(Arg675Gln) g.55240780G>A - EGFR_000006 - - - - Despoina Kalfakakou
./. 4 - c.2061+35C>T r.(=) p.(=) g.55240852C>T - EGFR_000007 - - - - Despoina Kalfakakou
./. 1 - c.2061+43G>A r.(=) p.(=) g.55240860G>A - EGFR_000056 - - - - Despoina Kalfakakou
./. 2 - c.2130T>G r.(=) p.(=) g.55241682T>G - EGFR_000038 - - - - Despoina Kalfakakou
./. 3 - c.2185-24G>A r.(=) p.(=) g.55242391G>A - EGFR_000049 - - - - Despoina Kalfakakou
./. 2 - c.2185-22C>G r.(=) p.(=) g.55242393C>G - EGFR_000068 - - - - Despoina Kalfakakou
./. 6 - c.2284-34G>A r.(=) p.(=) g.55248952G>A - EGFR_000046 - - - - Despoina Kalfakakou
./. 5 - c.2284-21C>T r.(=) p.(=) g.55248965C>T - EGFR_000037 - - - - Despoina Kalfakakou
./. 2 - c.2289C>G r.(=) p.(=) g.55248991C>G - EGFR_000061 - - - - Despoina Kalfakakou
./. 2 - c.2355C>T r.(=) p.(=) g.55249057C>T - EGFR_000020 - - - - Despoina Kalfakakou
./. 5 - c.2469+19T>C r.(=) p.(=) g.55249190T>C - EGFR_000052 - - - - Despoina Kalfakakou
./. 8 - c.2470-39G>A r.(=) p.(=) g.55259373G>A - EGFR_000021 - - - - Despoina Kalfakakou
./. 1 - c.2487G>A r.(=) p.(=) g.55259429G>A - EGFR_000083 rs41420046 - - - Despoina Kalfakakou
./. 3 - c.2625+27G>A r.(=) p.(=) g.55259594G>A - EGFR_000039 - - - - Despoina Kalfakakou
./. 1 - c.2701+31G>A r.(=) p.(=) g.55260565G>A - EGFR_000053 - - - - Despoina Kalfakakou
./. 1 - c.2702-19T>G r.(=) p.(=) g.55266391T>G - EGFR_000062 - - - - Despoina Kalfakakou
./. 8 - c.2710G>A r.(?) p.(Val904Ile) g.55266418G>A - EGFR_000022 - - - - Despoina Kalfakakou
./. 3 - c.2748C>T r.(=) p.(=) g.55266456C>T - EGFR_000060 rs41396448 - - - Despoina Kalfakakou
./. 1 - c.2749G>A r.(?) p.(Gly917Arg) g.55266457G>A - EGFR_000023 - - - - Despoina Kalfakakou
./. 1 - c.2796C>A r.(=) p.(=) g.55266504C>A - EGFR_000008 - - - - Despoina Kalfakakou
./. 3 - c.2884C>T r.(?) p.(Arg962Cys) g.55268044C>T - EGFR_000001 rs17337451 - - - Despoina Kalfakakou
./. 1 - c.2946+33G>A r.(=) p.(=) g.55268139G>A - EGFR_000078 - - - - Despoina Kalfakakou
./. 1 - c.2946+49C>A r.(=) p.(=) g.55268155C>A - EGFR_000024 - - - - Despoina Kalfakakou
./. 1 - c.2947-17C>T r.(=) p.(=) g.55268864C>T - EGFR_000059 - - - - Despoina Kalfakakou
./. 1 - c.2996G>A r.(?) p.(Arg999His) g.55268930G>A - EGFR_000040 - - - - Despoina Kalfakakou
./. 4 - c.3015A>G r.(=) p.(=) g.55268949A>G - EGFR_000025 rs55737335 - - - Despoina Kalfakakou
./. 1 - c.3081C>T r.(=) p.(=) g.55269015C>T - EGFR_000075 - - - - Despoina Kalfakakou
./. 2 - c.3086C>T r.(?) p.(Thr1029Met) g.55269020C>T - EGFR_000015 - - - - Despoina Kalfakakou
./. 1 - c.3087G>A r.(=) p.(=) g.55269021G>A - EGFR_000016 - - - - Despoina Kalfakakou
./. 2 - c.3099C>T r.(=) p.(=) g.55269033C>T - EGFR_000077 - - - - Despoina Kalfakakou
./. 1 - c.3114+15_3114+16del r.(=) p.(=) g.55269063_55269064del - EGFR_000076 - - - - Despoina Kalfakakou
./. 1 - c.3115-48A>G r.(=) p.(=) g.55269380A>G - EGFR_000063 - - - - Despoina Kalfakakou
./. 1 - c.3115-29C>T r.(=) p.(=) g.55269399C>T - EGFR_000084 - - - - Despoina Kalfakakou
./. 2 - c.3139G>A r.(?) p.(Val1047Met) g.55269452G>A - EGFR_000034 - - - - Despoina Kalfakakou
./. 46 - c.3162+45A>G r.(=) p.(=) g.55269520A>G - EGFR_000009 rs41446045 - - - Despoina Kalfakakou
./. 1 - c.3163-30G>A r.(=) p.(=) g.55270180G>A - EGFR_000080 - - - - Despoina Kalfakakou
./. 1 - c.3225C>T r.(=) p.(=) g.55270272C>T - EGFR_000017 - - - - Despoina Kalfakakou
./. 2 - c.3268C>T r.(?) p.(Pro1090Ser) g.55270315C>T - EGFR_000018 - - - - Despoina Kalfakakou
./. 2 - c.3271+49del r.(=) p.(=) g.55270367del - EGFR_000010 rs17337514 - - - Despoina Kalfakakou
./. 3 - c.3554G>C r.(?) p.(Gly1185Ala) g.55273231G>C - EGFR_000051 - - - - Despoina Kalfakakou
./. 1 - c.3591C>T r.(=) p.(=) g.55273268C>T - EGFR_000074 - - - - Despoina Kalfakakou
./. 1 - c.3592C>T r.(=) p.(=) g.55273269C>T - EGFR_000041 - - - - Despoina Kalfakakou
./. 1 - c.3600C>T r.(=) p.(=) g.55273277C>T - EGFR_000057 - - - - Despoina Kalfakakou
./. 6 - c.3629C>T r.(?) p.(Ala1210Val) g.55273306C>T - EGFR_000011 rs35918369 - - - Despoina Kalfakakou
./. 1 - c.*41C>T r.(=) p.(=) g.55273351C>T - EGFR_000069 - - - - Despoina Kalfakakou
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