Unique variants in gene APC

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

121 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.166-11421A>G r.(=) p.(=) g.112090602A>G - APC_000063 - - - - Despoina Kalfakakou
./. 1 - c.166-48T>C r.(=) p.(=) g.112101975T>C - APC_000056 - - - - Despoina Kalfakakou
./. 1 - c.166-18T>C r.(=) p.(=) g.112102005T>C - APC_000066 - - - - Despoina Kalfakakou
./. 1 - c.213T>C r.(=) p.(=) g.112102070T>C - APC_000090 - - - - Despoina Kalfakakou
./. 2 - c.227T>C r.(?) p.(Ile76Thr) g.112102084T>C - APC_000067 - - - - Despoina Kalfakakou
./. 1 - c.250+47G>A r.(=) p.(=) g.112102154G>A - APC_000051 - - - - Despoina Kalfakakou
./. 3 - c.251-29G>C r.(=) p.(=) g.112102857G>C - APC_000048 - - - - Despoina Kalfakakou
./. 2 - c.251-27A>C r.(=) p.(=) g.112102859A>C - APC_000046 - - - - Despoina Kalfakakou
./. 1 - c.307C>G r.(?) p.(Leu103Val) g.112102942C>G - APC_000080 - - - - Despoina Kalfakakou
./. 2 - c.337G>C r.(?) p.(Val113Leu) g.112102972G>C - APC_000029 - - - - Despoina Kalfakakou
./. 1 - c.452+4A>G r.spl? p.? g.112103091A>G - APC_000073 - - - - Despoina Kalfakakou
./. 1 - c.452+37A>C r.(=) p.(=) g.112103124A>C - APC_000087 - - - - Despoina Kalfakakou
./. 5 - c.453-17T>A r.(=) p.(=) g.112111309T>A - APC_000030 - - - - Despoina Kalfakakou
./. 1 - c.561+45G>A r.(=) p.(=) g.112111479G>A - APC_000107 - - - - Despoina Kalfakakou
./. 1 - c.562-37C>T r.(=) p.(=) g.112116450C>T - APC_000013 - - - - Despoina Kalfakakou
./. 1 - c.562-30T>C r.(=) p.(=) g.112116457T>C - APC_000020 - - - - Despoina Kalfakakou
./. 1 - c.562-19_562-17del r.(=) p.(=) g.112116468_112116470del - APC_000089 - - - - Despoina Kalfakakou
./. 1 - c.667C>T r.(?) p.(Arg223*) g.112116592C>T - APC_000052 - - - - Despoina Kalfakakou
./. 19 - c.676-8774A>G r.(=) p.(=) g.112128202A>G - APC_000009 - - - - Despoina Kalfakakou
./. 1 - c.676-8729G>C r.(=) p.(=) g.112128247G>C - APC_000104 - - - - Despoina Kalfakakou
./. 4 - c.676-22G>C r.(=) p.(=) g.112136954G>C - APC_000068 - - - - Despoina Kalfakakou
./. 1 - c.702C>T r.(=) p.(=) g.112137002C>T - APC_000108 - - - - Despoina Kalfakakou
./. 1 - c.705C>G r.(=) p.(=) g.112137005C>G - APC_000021 - - - - Despoina Kalfakakou
./. 1 - c.721C>T r.(?) p.(Arg241Trp) g.112137021C>T - APC_000121 - - - - Despoina Kalfakakou
./. 1 - c.780+5A>G r.spl? p.? g.112137085A>G - APC_000095 - - - - Despoina Kalfakakou
./. 1 - c.879+19C>T r.(=) p.(=) g.112151309C>T - APC_000096 - - - - Despoina Kalfakakou
./. 17 - c.879+30A>G r.(=) p.(=) g.112151320A>G - APC_000022 - - - - Despoina Kalfakakou
./. 1 - c.1186C>T r.(?) p.(Arg396Cys) g.112154969C>T - APC_000023 - - - - Despoina Kalfakakou
./. 1 - c.1354+8A>G r.(=) p.(=) g.112157696A>G - APC_000062 - - - - Despoina Kalfakakou
./. 6 - c.1355-26T>G r.(=) p.(=) g.112162779T>G - APC_000024 rs9282598 - - - Despoina Kalfakakou
./. 1 - c.1494+17T>C r.(=) p.(=) g.112162961T>C - APC_000116 - - - - Despoina Kalfakakou
./. 1 - c.1535T>C r.(?) p.(Val512Ala) g.112163666T>C - APC_000083 - - - - Despoina Kalfakakou
./. 1 - c.1565_1566insAA r.(?) p.(Gln523Asnfs*9) g.112163696_112163697insAA - APC_000053 - - - - Despoina Kalfakakou
./. 1 - c.1778G>C r.(?) p.(Gly593Ala) g.112170736G>C - APC_000074 - - - - Despoina Kalfakakou
./. 1 - c.1780G>A r.(?) p.(Ala594Thr) g.112170738G>A - APC_000025 - - - - Despoina Kalfakakou
./. 2 - c.1809T>C r.(=) p.(=) g.112170767T>C - APC_000106 rs72541808 - - - Despoina Kalfakakou
./. 24 - c.1905G>A r.(=) p.(=) g.112173250G>A - APC_000010 rs72541809 - - - Despoina Kalfakakou
./. 2 - c.2268C>T r.(=) p.(=) g.112173613C>T - APC_000011 - - - - Despoina Kalfakakou
./. 1 - c.2363_2365del r.(?) p.(Asp790del) g.112173708_112173710del - APC_000077 - - - - Despoina Kalfakakou
./. 1 - c.2472_2475del r.(?) p.(Ser825Leufs*17) g.112173817_112173820del - APC_000047 - - - - Despoina Kalfakakou
./. 1 - c.2498G>T r.(?) p.(Ser833Ile) g.112173843G>T - APC_000012 - - - - Despoina Kalfakakou
./. 2 - c.2532C>G r.(?) p.(Asn844Lys) g.112173877C>G - APC_000040 - - - - Despoina Kalfakakou
./. 3 - c.2539C>T r.(?) p.(Pro847Ser) g.112173884C>T - APC_000054 - - - - Despoina Kalfakakou
./. 1 - c.2726C>G r.(?) p.(Ala909Gly) g.112174071C>G - APC_000044 - - - - Despoina Kalfakakou
./. 6 - c.2751C>T r.(=) p.(=) g.112174096C>T - APC_000026 - - - - Despoina Kalfakakou
./. 1 - c.2807T>G r.(?) p.(Leu936*) g.112174152T>G - APC_000060 - - - - Despoina Kalfakakou
./. 1 - c.2894T>A r.(?) p.(Ile965Asn) g.112174239T>A - APC_000119 - - - - Despoina Kalfakakou
./. 3 - c.2952C>T r.(=) p.(=) g.112174297C>T - APC_000055 rs72541810 - - - Despoina Kalfakakou
./. 1 - c.3111A>T r.(=) p.(=) g.112174456A>T - APC_000115 rs61734287 - - - Despoina Kalfakakou
./. 1 - c.3119A>G r.(?) p.(Asp1040Gly) g.112174464A>G - APC_000118 - - - - Despoina Kalfakakou
./. 1 - c.3191C>G r.(?) p.(Thr1064Ser) g.112174536C>G - APC_000109 - - - - Despoina Kalfakakou
./. 1 - c.3314A>G r.(?) p.(Gln1105Arg) g.112174659A>G - APC_000041 - - - - Despoina Kalfakakou
./. 1 - c.3323G>A r.(?) p.(Ser1108Asn) g.112174668G>A - APC_000042 - - - - Despoina Kalfakakou
./. 8 - c.3332T>C r.(?) p.(Leu1111Ser) g.112174677T>C - APC_000027 - - - - Despoina Kalfakakou
./. 1 - c.3346G>A r.(?) p.(Asp1116Asn) g.112174691G>A - APC_000088 - - - - Despoina Kalfakakou
./. 1 - c.3382C>T r.(?) p.(Arg1128Cys) g.112174727C>T - APC_000007 - - - - Despoina Kalfakakou
./. 2 - c.3406_3408del r.(?) p.(Glu1139del) g.112174751_112174753del - APC_000028 - - - - Despoina Kalfakakou
./. 1 - c.3417G>A r.(=) p.(=) g.112174762G>A - APC_000097 - - - - Despoina Kalfakakou
./. 4 - c.3457C>T r.(?) p.(Arg1153Cys) g.112174802C>T - APC_000008 - - - - Despoina Kalfakakou
./. 1 - c.3622A>G r.(?) p.(Lys1208Glu) g.112174967A>G - APC_000079 - - - - Despoina Kalfakakou
./. 1 - c.3720A>G r.(=) p.(=) g.112175065A>G - APC_000112 - - - - Despoina Kalfakakou
./. 2 - c.3732T>C r.(=) p.(=) g.112175077T>C - APC_000076 - - - - Despoina Kalfakakou
./. 20 - c.3866T>A r.(?) p.(Ile1289Lys) g.112175211T>A - APC_000005 rs1801155 - - - Despoina Kalfakakou
./. 19 - c.3895G>C r.(?) p.(Glu1299Gln) g.112175240G>C - APC_000031 rs1801166 - - - Despoina Kalfakakou
./. 1 - c.3916C>G r.(?) p.(Pro1306Ala) g.112175261C>G - APC_000045 - - - - Despoina Kalfakakou
./. 1 - c.3997G>A r.(?) p.(Ala1333Thr) g.112175342G>A - APC_000071 - - - - Despoina Kalfakakou
./. 1 - c.4263T>A r.(=) p.(=) g.112175608T>A - APC_000117 - - - - Despoina Kalfakakou
./. 2 - c.4289C>T r.(?) p.(Thr1430Ile) g.112175634C>T - APC_000032 - - - - Despoina Kalfakakou
./. 1 - c.4312_4313insAAGC r.(?) p.(Pro1440Serfs*5) g.112175657_112175658insAAGC - APC_000049 - - - - Despoina Kalfakakou
./. 1 - c.4479C>T r.(=) p.(=) g.112175824C>T - APC_000113 - - - - Despoina Kalfakakou
./. 1 - c.4520T>G r.(?) p.(Met1507Arg) g.112175865T>G - APC_000069 - - - - Despoina Kalfakakou
./. 3 - c.4864C>T r.(?) p.(Arg1622Trp) g.112176209C>T - APC_000038 - - - - Despoina Kalfakakou
./. 1 - c.4972A>G r.(?) p.(Arg1658Gly) g.112176317A>G - APC_000114 - - - - Despoina Kalfakakou
./. 1 - c.5171G>A r.(?) p.(Arg1724His) g.112176516G>A - APC_000061 - - - - Despoina Kalfakakou
./. 21 - c.5211G>A r.(=) p.(=) g.112176556G>A - APC_000006 rs34506289 - - - Despoina Kalfakakou
./. 2 - c.5217T>C r.(=) p.(=) g.112176562T>C - APC_000039 - - - - Despoina Kalfakakou
./. 13 - c.5220T>A r.(=) p.(=) g.112176565T>A - APC_000001 - - - - Despoina Kalfakakou
./. 1 - c.5443_5448del r.(?) p.(Val1816_Arg1817del) g.112176788_112176793del - APC_000093 - - - - Despoina Kalfakakou
./. 16 - c.5474C>T r.(?) p.(Pro1825Leu) g.112176819C>T - APC_000002 - - - - Despoina Kalfakakou
./. 1 - c.5528C>A r.(?) p.(Ser1843Tyr) g.112176873C>A - APC_000102 - - - - Despoina Kalfakakou
./. 1 - c.5723T>G r.(?) p.(Ile1908Arg) g.112177068T>G - APC_000064 - - - - Despoina Kalfakakou
./. 6 - c.5730G>A r.(=) p.(=) g.112177075G>A - APC_000003 - - - - Despoina Kalfakakou
./. 1 - c.5777G>A r.(?) p.(Gly1926Glu) g.112177122G>A - APC_000078 - - - - Despoina Kalfakakou
./. 2 - c.5846C>G r.(?) p.(Ser1949Cys) g.112177191C>G - APC_000033 - - - - Despoina Kalfakakou
./. 1 - c.5965T>C r.(?) p.(Tyr1989His) g.112177310T>C - APC_000105 - - - - Despoina Kalfakakou
./. 1 - c.6063G>T r.(?) p.(Leu2021Phe) g.112177408G>T - APC_000014 - - - - Despoina Kalfakakou
./. 1 - c.6403G>C r.(?) p.(Asp2135His) g.112177748G>C - APC_000034 - - - - Despoina Kalfakakou
./. 1 - c.6439C>A r.(?) p.(Pro2147Thr) g.112177784C>A - APC_000099 - - - - Despoina Kalfakakou
./. 3 - c.6472T>C r.(=) p.(=) g.112177817T>C - APC_000057 - - - - Despoina Kalfakakou
./. 1 - c.6483A>G r.(=) p.(=) g.112177828A>G - APC_000058 - - - - Despoina Kalfakakou
./. 1 - c.6585G>A r.(?) p.(Met2195Ile) g.112177930G>A - APC_000091 rs35540155 - - - Despoina Kalfakakou
./. 2 - c.6670A>G r.(?) p.(Ser2224Gly) g.112178015A>G - APC_000035 - - - - Despoina Kalfakakou
./. 1 - c.6690A>G r.(=) p.(=) g.112178035A>G - APC_000065 - - - - Despoina Kalfakakou
./. 1 - c.6696C>T r.(=) p.(=) g.112178041C>T - APC_000092 - - - - Despoina Kalfakakou
./. 7 - c.6767C>T r.(?) p.(Ala2256Val) g.112178112C>T - APC_000043 rs34919187 - - - Despoina Kalfakakou
./. 1 - c.6803C>T r.(?) p.(Ala2268Val) g.112178148C>T - APC_000085 - - - - Despoina Kalfakakou
./. 1 - c.6872C>T r.(?) p.(Pro2291Leu) g.112178217C>T - APC_000036 - - - - Despoina Kalfakakou
./. 1 - c.6982C>T r.(?) p.(Pro2328Ser) g.112178327C>T - APC_000120 - - - - Despoina Kalfakakou
./. 1 - c.6992C>T r.(?) p.(Ser2331Leu) g.112178337C>T - APC_000098 - - - - Despoina Kalfakakou
./. 1 - c.7003A>G r.(?) p.(Thr2335Ala) g.112178348A>G - APC_000100 - - - - Despoina Kalfakakou
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