All transcript 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     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. - c.-33+902A>C r.(=) p.(=) g.80102792A>C - GAA_000001 rs12450199 0.3544 141 49 Admin
./. - c.-33+1308A>G - - g.80103198A>G - GAA_000002 rs1442314 0.7515 143 183 Admin
./. - c.-32-641C>T - - g.80103914C>T - GAA_000003 rs12600845 0.4632 173 71 Admin
./. - c.547-5C>G - - g.80105744C>G - GAA_000004 rs3816256 0.3088 140 35 Admin
./. - c.692+750C>T - - g.80106644C>T - GAA_000005 rs8068051 0.2912 150 24 Admin
./. - c.2190-687A>G r.(=) p.(=) g.80116281A>G - GAA_000006 rs12452616 0.7471 120 194 Admin
./. - c.2190-445C>T r.(=) p.(=) g.80116523C>T - GAA_000007 rs4889967 0.2824 140 26 Admin
./. - c.2779C>T - - g.80118785C>T - GAA_000008 rs1800315 0.0353 22 1 Admin
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