Table 3. Resume of the main outcomes concerning genomic sequence variants (SVs) detected.

	Genomic sequence variants
	g.226G>A	g.229T>A	g.355G>A	g.1914G>C	g.2037G>C	g.2041A>C	g.2065T>C
Minor allele percentage (%)
Normal	7.69
BeL				37.50	25.00	37.50	25.00
MaL			18.75	25.00	16.67	33.33	25.00
MeL		16.67	33.33		16.67	83.33	33.33
Heterozygosis percentage (%)
Normal	15.38
BeL				75.00	50.00	25.00	50.00
MaL			37.50	50.00	33.33	33.33	50.00
MeL		33.33	00.00		33.33	33.33	66.67
Allelic Association tests
Normal vs. CMLs	No	No	Yes	Yes	Yes	Yes	Yes
Genotypic Association tests
Normal vs. CMLs	No	No	No	Yes	Yes	Yes	Yes
Clinicopathological Correlation
CMLs	No	No	Yes	Yes	No	No	No
SVs and AA changes analysis in Total Group of Samples
SVs Position	Exon 11	Exon 11	Intron 12	Intron 14	Exon 15	Exon 15	Exon 15
Haplotypes with SVs	7	17	No	15; 16; 18	15; 18	11; 15; 17	15; 16; 17; 18; 19
Percentage of SV in Haplotypes (%)	8	0.5	<0.05	0.15	0.1	0.35	0.25
AA changes	Arg46Lys	Val47Glu	NA	NA	Ala205Pro	His206Pro	Val214Ala
Probably effect in protein	Benign	Damage	NA	NA	Benign	Damage	Damage

Sequence variants key marks reveal by experimental, statistic and in silico analysis. A detailed integrative analysis of nsSVs and their corresponding amino acid changes. The haplotypes corresponds to the frequent haplotypes detected in total samples (frequency >5%). SVs with probably damage effect in protein are in bold text. (%) Percentage. (NA) not applicable. (No) not observed.