Unique variants in gene GAA

Information The variants shown are described using the NM_000152.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Owner     
./. 1 - c.-33+903A>C - r.(=) p.(=) g.78076592A>C dbSNP GAA_000001 rs12450199 0.36318 Admin
./. 1 - c.-33+1309A>G - - - g.78076998A>G dbSNP GAA_000002 rs1442314 0.73649 Admin
./. 1 - c.-32-640C>T - r.(=) p.(=) g.78077714C>T dbSNP GAA_000003 rs12600845 0.45946 Admin
./. 1 - c.547-4C>G - r.spl? p.? g.78079544C>G dbSNP GAA_000004 rs3816256 0.30405 Admin
./. 1 - c.692+751C>T - - - g.78080444C>T dbSNP GAA_000005 rs8068051 0.28547 Admin
./. 1 - c.2190-686A>G - - - g.78090081A>G dbSNP GAA_000006 rs12452616 0.74493 Admin
./. 1 - c.2190-444C>T - - - g.78090323C>T dbSNP GAA_000007 rs4889967 0.27365 Admin
./. 1 - c.2780C>T - r.(?) p.(Thr927Ile) g.78092585C>T dbSNP GAA_000008 rs1800315 0.02534 Admin
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