Table 1.

HOXA1 single nucleotide variants observed among Moebius probands

No. Möbius probands with variant (rare allele frequency)	Location of change*	Amino acid substitution	dbSNP reference ID	Duane’s Probands Previously reported†	Controls of mixed ethnicity Previously reported
4/40 (0.050) Caucasian	218A>G	H73R	rs10951154	16/131 (0.061)	0.10‡
1/40 (0.013) Hispanic	220-222delCAC	Del His74	none	10/131 (0.038)	0.047†
1/40 (0.013) Caucasian	436C>A	H146N	rs45571645	2/131 (0.007)	0.035†

^*Nucleotide numbering refers to the cDNA sequence specifying the 336 amino acid residues of HOXA1, commencing at the +1 position of the initiation codon (BC032547).

^†Tischfield et al.⁷

^‡Ingram et al.⁹