Unique variants in gene A2ML1

Information The variants shown are described using the NM_144670.4 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.186C>T - r.(=) p.(=) g.8975901C>T dbSNP A2ML1_000001 rs17792974 0.02872 Admin
./. 1 - c.409+286A>G - r.(=) p.(=) g.8976764A>G dbSNP A2ML1_000002 rs10842349 0.83615 Admin
./. 1 - c.409+302C>T - - - g.8976780C>T dbSNP A2ML1_000003 rs11047443 0.35811 Admin
./. 1 - c.409+2182A>G - - - g.8978660A>G dbSNP A2ML1_000004 rs7314013 0.98986 Admin
./. 1 - c.410-678C>G - r.(=) p.(=) g.8981645C>G dbSNP A2ML1_000005 rs4883181 0.79899 Admin
./. 1 - c.410-467A>G - - - g.8981856A>G dbSNP A2ML1_000006 rs4883182 0.85811 Admin
./. 1 - c.410-394G>T - - - g.8981929G>T dbSNP A2ML1_000007 rs4883183 0.15541 Admin
./. 1 - c.462+991A>G - - - g.8983366A>G dbSNP A2ML1_000008 rs12319997 0.91554 Admin
./. 1 - c.463-879C>T - - - g.8986379C>T dbSNP A2ML1_000009 rs10842366 0.46959 Admin
./. 1 - c.729-527C>T - - - g.8989509C>T dbSNP A2ML1_000010 rs11612855 0.71622 Admin
./. 1 - c.729-491G>T - r.(=) p.(=) g.8989545G>T dbSNP A2ML1_000011 rs2377599 0.95101 Admin
./. 1 - c.729-120A>G - r.(=) p.(=) g.8989916A>G dbSNP A2ML1_000012 rs11047510 0.84966 Admin
./. 1 - c.1248+586A>G - r.(=) p.(=) g.8994718A>G dbSNP A2ML1_000032 rs4883189 0.28547 Admin
./. 1 - c.1248+655C>T - r.(=) p.(=) g.8994787C>T dbSNP A2ML1_000030 rs7954245 0.66385 Admin
./. 1 - c.1249-592A>T - - - g.8995138A>T dbSNP A2ML1_000031 rs1344455 0.69426 Admin
./. 1 - c.1249-207C>G - r.(=) p.(=) g.8995523C>G dbSNP A2ML1_000026 rs7137125 0.44257 Admin
./. 1 - c.1249-36A>G - r.(=) p.(=) g.8995694A>G dbSNP A2ML1_000027 rs7307991 0.29392 Admin
./. 1 - c.1275C>T - - - g.8995756C>T dbSNP A2ML1_000028 rs7308106 0.91047 Admin
./. 1 - c.1834-202A>G - - - g.9001114A>G dbSNP A2ML1_000029 rs7138661 0.99493 Admin
./. 1 - c.2028+207C>T - - - g.9001717C>T dbSNP A2ML1_000013 rs7978604 0.84628 Admin
./. 1 - c.2765-180A>G - - - g.9007925A>G dbSNP A2ML1_000014 rs12318927 0.99324 Admin
./. 1 - c.2848+421A>C - - - g.9008609A>C dbSNP A2ML1_000015 rs2110079 0.01351 Admin
./. 1 - c.2849-718C>T - - - g.9009042C>T dbSNP A2ML1_000016 rs11047617 0.97804 Admin
./. 1 - c.3264+814G>T - r.(=) p.(=) g.9011512G>T dbSNP A2ML1_000017 rs7488933 0.45946 Admin
./. 1 - c.3265-148A>G - - - g.9013329A>G dbSNP A2ML1_000018 rs17802465 0.87669 Admin
./. 1 - c.3364C>T - r.(?) p.(Arg1122Trp) g.9013755C>T dbSNP A2ML1_000019 rs1860967 0.37162 Admin
./. 1 - c.3717+61C>G - - - g.9016665C>G dbSNP A2ML1_000020 rs17802489 0.87500 Admin
./. 1 - c.3718-961C>T - r.(=) p.(=) g.9019477C>T dbSNP A2ML1_000021 rs17729753 0.14527 Admin
./. 1 - c.3718-110C>T - - - g.9020328C>T dbSNP A2ML1_000022 rs7311897 0.67399 Admin
./. 1 - c.4020A>G - r.(=) p.(=) g.9020912A>G dbSNP A2ML1_000023 rs1476910 0.76014 Admin
./. 1 - c.4152+33A>G - - - g.9021256A>G dbSNP A2ML1_000024 rs12816475 0.56757 Admin
./. 1 - c.4221+1893A>C - - - g.9023692A>C dbSNP A2ML1_000025 rs4883193 0.75507 Admin
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