Table 3. Results of bioinformatics analysis of exonic variations.

Variation	ExAC variant frequency in South Asian population	Aminoacid Conservation scores		PROVEAN	SIFT	Mutation Assessor	Polyphen 2	PhD-SNP	SNAP	Mutation Taster	Number of methods showing deleterious effect
Transcript /protein		PhyloP	Phast-Cons	Prediction	Prediction	Prediction	Prediction	Prediction	Prediction	Prediction
c.211G>A (p.Gly71Arg)	0.01902	2.13	0.01	Neutral	Tolerated	Low	Probably damaging	Disease	Non-neutral	Polymorphism	3/7
c.322C>T (p.Arg108Cys)	0.00036	0.17	0	Deleterious	Tolerated	Medium	Probably damaging	Disease	Neutral	Polymorphism	5/7
c.476T>C (p.Ile159Thr)	0.00067	5.3	0.99	Deleterious	Damaging	Medium	Possibly damaging	Neutral	Neutral	Disease causing	5/7
c.614C>A (p.Thr205Asn)	Novel variant	0.002	0.39	Neutral	Tolerated	Low	Benign	Neutral	Neutral	Polymorphism	0/7
c.674T>G (p.Val225Gly)	0.00212	0.63	0	Tolerated	Damaging	Neutral	Benign	Disease	Neutral	Polymorphism	2/7
c.1084G>A (p.Gly362Ser)	0.00036	6.12	1	Neutral	Damaging	Medium	Probably damaging	Disease	Non-neutral	Disease causing	6/7
c.1388A>T (p.Glu463Val)	0.00012	5.17	1	Deleterious	Damaging	High	Probably damaging	Disease	Non-neutral	Disease causing	7/7
c.1511T>A (p.Phe504Tyr)	0.00012	2.45	0.89	Neutral	Damaging	Low	Probably damaging	Neutral	Neutral	Disease causing	3/7

PROVEAN: PROtein Variation Effect Analyzer; SIFT: Sorting Intolerant from Tolerant; Polyphen 2: Polymorphism phenotyping2; PhD-SNP(Predictor of human Deleterious SNPs; SNAP: Screening for non-acceptable polymorphism

PhyloP values vary between -14 and +6, the closer the value is to +6, the more probable that the nucleotide is conserved

PhastCons values vary between 0 and 1, the closer the value is to 1, the more probable that the nucleotide is conserved