Unique variants in gene PMM2

Information The variants shown are described using the NM_000303.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.347+172C>T - r.(=) p.(=) g.8900436C>T dbSNP PMM2_000019 rs17566708 0.12669 Admin
./. 1 - c.347+551C>T - r.(=) p.(=) g.8900815C>T dbSNP PMM2_000015 rs17651644 0.22297 Admin
./. 1 - c.347+1019C>T - - - g.8901283C>T dbSNP PMM2_000016 rs8046212 0.85304 Admin
./. 1 - c.347+2147A>G - r.(=) p.(=) g.8902411A>G dbSNP PMM2_000017 rs4985037 0.86149 Admin
./. 1 - c.348-2159C>G - r.(=) p.(=) g.8902777C>G dbSNP PMM2_000018 rs4985038 0.73986 Admin
./. 1 - c.348-2066C>G - - - g.8902870C>G dbSNP PMM2_000001 rs1997381 0.88176 Admin
./. 1 - c.634C>T - - - g.8906958C>T dbSNP PMM2_000002 rs3743808 0.99324 Admin
./. 1 - c.639+62C>T - r.(=) p.(=) g.8907025C>T dbSNP PMM2_000003 rs3743807 0.15203 Admin
./. 1 - c.639+3791C>G - - - g.8910754C>G dbSNP PMM2_000004 rs8048087 0.89527 Admin
./. 1 - c.639+4039A>C - r.(=) p.(=) g.8911002A>C dbSNP PMM2_000005 rs8056319 0.02196 Admin
./. 1 - c.639+4111A>G - r.(=) p.(=) g.8911074A>G dbSNP PMM2_000006 rs1529913 0.84966 Admin
./. 1 - c.639+6018C>T - - - g.8912981C>T dbSNP PMM2_000007 rs3743814 0.88851 Admin
./. 1 - c.639+6151C>G - - - g.8913114C>G dbSNP PMM2_000008 rs1529914 0.11993 Admin
./. 1 - c.639+6841A>C - - - g.8913804A>C dbSNP PMM2_000009 rs1985263 0.13682 Admin
./. 1 - c.639+7184G>T - r.(=) p.(=) g.8914147G>T dbSNP PMM2_000010 rs7190763 0.01689 Admin
./. 1 - c.639+7942A>T - r.(=) p.(=) g.8914905A>T dbSNP PMM2_000011 rs4457993 0.82095 Admin
./. 1 - c.640-1159A>C - - - g.8940422A>C dbSNP PMM2_000012 rs11645498 0.35642 Admin
./. 1 - c.*560C>T - - - g.8942242C>T dbSNP PMM2_000013 rs2447928 0.96115 Admin
./. 1 - c.*997A>G - r.(=) p.(=) g.8942679A>G dbSNP PMM2_000014 rs1056898 0.26351 Admin
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