Table 3.

CHD5 sequence variants found among one or more affected in the screening panel

Location	Nucleotide change	Amino acid change	db SNP ID
Exon 5	c.531G>A	None [P177P]	Not in database
Intron 8	IVS8+41C>A	None	rs41279496
Intron 11	IVS11-7G>C	None	rs17489787
Intron 13	IVS13-17C>T	None	Not in database
Exon 15	c.2379C>T	None [N793N]	rs2273032
Exon 22	c.3336G>A	None [A1112A]	rs17029184
Exon 22	c.3351C>G	I1117M	Not in database
Intron 36	IVS36-38C>T	None	Not in database
Intron 36	IVS36-49C>T	None	Not in database
Intron 39	IVS39+34C>T	None	Not in database

dbSNP, single nucleotide polymorphism database.