Unique variants in gene ABCA6

Information The variants shown are described using the NM_080284.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 - c.-1037T>G r.(=) p.(=) g.69142736A>C dbSNP ABCA6_000026 0.328 Admin
./. 1 - c.791+654T>G - - g.69132987A>C dbSNP ABCA6_000025 0.271 Admin
./. 1 - c.792-671T>C r.(=) p.(=) g.69130422A>G dbSNP ABCA6_000024 0.636 Admin
./. 1 - c.1119+850G>A - - g.69127769C>T dbSNP ABCA6_000023 0.252 Admin
./. 1 - c.1268-476G>A - - g.69123883C>T dbSNP ABCA6_000022 0.337 Admin
./. 1 - c.1268-44G>C - - g.69123451C>G dbSNP ABCA6_000021 0.328 Admin
./. 1 - c.1436+594T>C r.(=) p.(=) g.69122645A>G dbSNP ABCA6_000020 0.756 Admin
./. 1 - c.1436+764T>C r.(=) p.(=) g.69122475A>G dbSNP ABCA6_000019 0.788 Admin
./. 1 - c.1829T>A - - g.69113691A>T dbSNP ABCA6_000018 0.100 Admin
./. 1 - c.1902+87T>C - - g.69113531A>G dbSNP ABCA6_000017 0.434 Admin
./. 1 - c.1912T>C r.(=) p.(=) g.69113351A>G dbSNP ABCA6_000016 0.081 Admin
./. 1 - c.2042-467G>A r.(=) p.(=) g.69112740C>T dbSNP ABCA6_000015 0.797 Admin
./. 1 - c.2095G>C - - g.69112220C>G dbSNP ABCA6_000014 0.188 Admin
./. 1 - c.2273-540G>C - - g.69108352C>G dbSNP ABCA6_000013 0.150 Admin
./. 1 - c.2741-585T>C r.(=) p.(=) g.69103553A>G dbSNP ABCA6_000012 0.962 Admin
./. 1 - c.2741-548T>C r.(=) p.(=) g.69103516A>G dbSNP ABCA6_000011 0.275 Admin
./. 1 - c.3408+2182G>A - - g.69094058C>T dbSNP ABCA6_000010 0.653 Admin
./. 1 - c.3529-526T>C - - g.69090068A>G dbSNP ABCA6_000009 0.790 Admin
./. 1 - c.3529-450G>A - - g.69089992C>T dbSNP ABCA6_000008 0.420 Admin
./. 1 - c.3606+99T>C r.(=) p.(=) g.69089366A>G dbSNP ABCA6_000007 0.049 Admin
./. 1 - c.3606+545T>C - - g.69088920A>G dbSNP ABCA6_000006 0.778 Admin
./. 1 - c.3607-355T>C - - g.69088613A>G dbSNP ABCA6_000005 0.818 Admin
./. 1 - c.3699-187G>A - - g.69087660C>T dbSNP ABCA6_000004 0.081 Admin
./. 1 - c.3966G>A - - g.69085688C>T dbSNP ABCA6_000003 0.413 Admin
./. 1 - c.4029+35T>C - - g.69085590A>G dbSNP ABCA6_000002 0.415 Admin
./. 1 - c.4617-186T>C - - g.69081331A>G dbSNP ABCA6_000001 0.320 Admin
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