All transcript variants in gene ABCA3

Information The variants shown are described using the NM_001089.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.319+22G>A r.(=) p.(=) g.2375989C>T Copied from the Exome Variant Server ABCA3_000403 1/12994 0/8598 1/4396
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