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Table 2 SNVs Identified by Exome Sequencing and Validated by PCR Products Sequencing

From: Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases

Variant coordinates SNP ID Gene Variation Nucleotide changes MAF * (%)
chr7:123599641 rs199703625 SPAM1 non-synonymous SNV A-- > G 0.100
chr11:1769211 --- IFITM10 non-synonymous SNV C-- > T ---
chr7:81601108 rs78086631 CACNA2D1 non-synonymous SNV G-- > A 0.270
chr7:87082273 rs58238559 ABCB4 non-synonymous SNV A-- > G 0.652
chr15:76225153 --- FBXO22 non-synonymous SNV C-- > A ---
chr11:117257921 --- CEP164 non-synonymous SNV G-- > T ---
chr2:27522165 rs146448995 TRIM54 stop–gain mutation G-- > T 0.022
  1. *UCSC Genome Browser database. MAF = minor allele frequency.