Table 2.

The prediction of the identified variants in ADSL.

Gene name	Position	Transcript	Substitution	ExAC	1000 G	dbSNP ID	ESP	SIFT score	Polyphen score	Grantham score	GERP score	CADD score	Mutation Taster
ADSL	Chr 22: 40742633	NM_000026.2	c.71 C > T/p.P24L	novel	novel	novel	novel	0.067	0.001	98	0.153	14.87	Disease causing
ADSL	Chr 22: 40762457	NM_000026.2	c.1387-1389delGAG/p.E463-	novel	novel	novel	novel	NA	NA	NA	5.470	NA	Disease causing
ADSL	Chr 22: 40742696	NM_000026.2	c.134 G > A/p.W45*	novel	novel	novel	novel	NA	NA	NA	3.240	29.20	Disease causing

Abbreviations: ExAC, Exome Aggregation Consortium; 1000 G, 1000 genomes; ESP, Exome Sequencing Project; NA, not available.