Unique variants in gene ABCG8

Information The variants shown are described using the NM_022437.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 - c.-3298A>C - - g.43835756A>C dbSNP ABCG5_000004 0.678 Admin
./. 1 - c.-1410A>G r.(=) p.(=) g.43837644A>G dbSNP ABCG5_000005 0.977 Admin
./. 1 - c.63+1563G>T - - g.43840679G>T dbSNP ABCG8_000012 0.511 Admin
./. 1 - c.63+1595A>G - - g.43840711A>G dbSNP ABCG8_000013 0.962 Admin
./. 1 - c.64-1866A>T r.(=) p.(=) g.43842641A>T dbSNP ABCG8_000014 0.369 Admin
./. 1 - c.64-712C>T r.(=) p.(=) g.43843795C>T dbSNP ABCG8_000015 0.627 Admin
./. 1 - c.64-616C>T - - g.43843891C>T dbSNP ABCG8_000016 0.013 Admin
./. 1 - c.322+205C>T - - g.43846516C>T dbSNP ABCG8_000017 0.831 Admin
./. 1 - c.322+549C>T - - g.43846860C>T dbSNP ABCG8_000001 0.081 Admin
./. 1 - c.322+980A>G - - g.43847291A>G dbSNP ABCG8_000002 0.309 Admin
./. 1 - c.964+316C>T r.(=) p.(=) g.43853184C>T dbSNP ABCG8_000003 0.854 Admin
./. 1 - c.964+1183A>G - - g.43854051A>G dbSNP ABCG8_000004 0.792 Admin
./. 1 - c.1198A>C r.(?) p.(Thr400Pro) g.43872293A>C dbSNP ABCG8_000005 0.771 Admin
./. 1 - c.1211+569A>T - - g.43872875A>T dbSNP ABCG8_000006 0.053 Admin
./. 1 - c.1211+723C>G - - g.43873029C>G dbSNP ABCG8_000007 0.509 Admin
./. 1 - c.1212-78C>T - - g.43873709C>T dbSNP ABCG8_000008 0.871 Admin
./. 1 - c.1412-175C>T - - g.43874232C>T dbSNP ABCG8_000009 0.911 Admin
./. 1 - c.1488+261A>G r.(=) p.(=) g.43874744A>G dbSNP ABCG8_000010 0.123 Admin
./. 1 - c.1894A>G - - g.43877785A>G dbSNP ABCG8_000011 0.703 Admin
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