All transcript variants in gene ABCC6

Information The variants shown are described using the NM_001079528.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.67G>T r.(?) p.(Ala23Ser) g.16315658C>A Copied from the Exome Variant Server ABCC6_000010 1/12284 1/8182 0/4102
?/? c.162C>A r.(?) p.(Phe54Leu) g.16315563G>T Copied from the Exome Variant Server ABCC6_000009 1/12992 1/8600 0/4392
?/? c.163A>G r.(?) p.(Ile55Val) g.16315562T>C Copied from the Exome Variant Server ABCC6_000008 1/12992 1/8600 0/4392
?/? c.167A>G r.(?) p.(His56Arg) g.16315558T>C Copied from the Exome Variant Server ABCC6_000007 3/12992 3/8600 0/4392
?/? c.170A>G r.(?) p.(His57Arg) g.16315555T>C Copied from the Exome Variant Server ABCC6_000006 1/12992 0/8600 1/4392
?/? c.177C>T r.(=) p.(=) g.16315548G>A Copied from the Exome Variant Server ABCC6_000005 1/12990 1/8600 0/4390
?/? c.260G>A r.(?) p.(Arg87Gln) g.16315465C>T Copied from the Exome Variant Server ABCC6_000004 1/12994 1/8600 0/4394
?/? c.297T>C r.(=) p.(=) g.16315428A>G Copied from the Exome Variant Server ABCC6_000003 19/7238 0/4608 19/2630
?/? c.*18G>A r.(=) p.(=) g.16315407C>T Copied from the Exome Variant Server ABCC6_000002 237/6956 144/4484 93/2472
?/? c.*2027G>A r.(=) p.(=) g.16313398C>T Copied from the Exome Variant Server ABCC6_000001 107/12780 99/8460 8/4320
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