New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing

Table 2

WS-associated genes and their PCR target regions.

Gene name	NM_accession	Exon number	Gene length	mRNA length	Exon length
PAX3	NM_181457.3	8	97284	2032	478 (268)|coding+3UTR,215,166,206,135,130,236,466|coding+5UTR
SNAI2	NM_003068.4	3	3764	2112	1312 (183)|coding+3 UTR,546,254|coding+5UTR
MITF	NM_000248.3	9	31738	4472	156|coding+5UTR,228,84,96,118,75,76,148,3491 (402)|coding+3UTR
EDNRB	NM_000115.3	8	80049	4282	2854 (136)|coding+3UTR,109,134,150,205,113,534|coding+5UTR,183|5UTR
SOX10	NM_006941.3	4	12221	2862	1887 (705)|coding+3UTR,269,512|coding+5UTR,194|5UTR
EDN3	NM_207034.1	5	25549	2619	421|coding+5UTR,313,177,46,1662 (129)|coding+3UTR