View unique variants in gene CHEK2

Information The variants shown are described using the NM_007194.3 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
+?/? 1 4 c.470T>C r.(?) p.(Ile157Thr) g.29121087A>G - CHEK2_000001 - Florian Bayersdorfer
+?/+? 1 7 c.846+4_846+7delAGTA r.spl? p.? g.29105987_29105990delTACT - CHEK2_000002 - Florian Bayersdorfer
+/+ 1 9 c.909-21_1095+21del r.(?) p.(Met304Leufs*16) g.29092868_29095946del - CHEK2_000008 - Florian Bayersdorfer
+/+ 1 11 c.1100delC r.(?) p.(Thr367Metfs*15) g.29091857delG - CHEK2_000004 - Florian Bayersdorfer
./. 1 12 c.1312G>T r.(?) p.(Asp438Tyr) g.29091178C>A - CHEK2_000003 - Florian Bayersdorfer
./. 1 13 c.1461+5G>A r.spl? p.? g.29090015C>T - CHEK2_000006 - Florian Bayersdorfer
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