Table 1.

Clinical Description and Variants Analysis of the Patients

Pair	Twin	Age at Diagnosis	Karyotype	Syndromic Features	Scrotum	Testes	Urethral Opening	Stretched Penile Length	Chordee	Variant
										Variant	ExAC (South Asian)	Freq. in Internal Dataset (278 46,XY)	IGV		cDNA NM_001719	Protein
													Read	WT/Mutant Ratio			GERP	Effect of the Change
1	1	4 y	46,XY	No	Fused	2 mL, bilateral descended testes	Penile	3 cm	Mild	Chr 20: 55840914 C>A	0	0	276	48/52	Exon 1c.G265T	p.A89S	4.06	Alanine changed to serine. Change in size hydrophobicity of the residue. Likely loss of hydrophobic interaction of the protein.
	2		46,XY	No	Fused	2 mL, bilateral descended testes	Penile	3.3 cm	Mild				303	49/51
2	1	2 y	46,XY	No	Fused	2 mL, bilateral descended testes	Proximal penile	3 cm	Yes	Chr 20: 55777657 C>T	6.06e-05	0	242	59/41	Exon 3 c.G634A	p.D212N	4.78	Aspartic acid changed to asparagine. Loss of charge. Likely loss of interaction of the protein.
	2		46,XY	No	Bifid	1–2 mL, right descended testis, 1 mL left descended testis	Penoscrotal	3.5 cm	Mild				261	68/32