Unique variants in gene PCSK1N

Information The variants shown are described using the NM_013271.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.117G>A r.(=) p.(=) g.48690749C>T Copied from the Exome Variant Server PCSK1N_000007 1385/6892 346/4440 1039/2452
1 c.122G>A r.(?) p.(Arg41His) g.48690744C>T Copied from the Exome Variant Server PCSK1N_000006 3/6654 3/4297 0/2357
1 c.328C>T r.(=) p.(=) g.48690538G>A Copied from the Exome Variant Server PCSK1N_000005 141/6968 132/4471 9/2497
1 c.364G>T r.(?) p.(Ala122Ser) g.48690502C>A Copied from the Exome Variant Server PCSK1N_000004 1/7648 1/4900 0/2748
1 c.450del r.(?) p.(Ala151Glnfs*45) g.48690416del Copied from the Exome Variant Server PCSK1N_000003 229/5580 126/3594 103/1986
1 c.712del r.(?) p.(Ala238Argfs*5) g.48689741del Copied from the Exome Variant Server PCSK1N_000002 28/9332 19/5935 9/3397
1 c.750C>T r.(=) p.(=) g.48689703G>A Copied from the Exome Variant Server PCSK1N_000001 1/9945 0/6322 1/3623
1 c.*35A>T r.(=) p.(=) g.48689635T>A Copied from the Exome Variant Server PCSK1N_000008 15/9172 15/5855 0/3317
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