Molecular diagnosis of Kallmann syndrome with diabetes by whole exome sequencing and bioinformatic approaches

Table 5 Distribution of single-nucleotide polymorphisms

Sample	Patient 1	Patient 2	Patient 3	Patient 4
Total	82986	84748	84579	84731
dbsnp, n (%)	82205 (99.06)	83887 (98.98)	83752 (99.02)	83835 (98.94)
1000g_EAS, n (%)	77404 (93.27)	78717 (92.88)	78737 (93.09)	78824 (93.03)
ExAC_EAS, n (%)	45558 (54.90)	45630 (53.84)	45773 (54.12)	45936 (54.21)
GnomAD_exome_EAS, n (%)	45617 (54.97)	45698 (53.92)	45866 (54.23)	46025 (54.32)
GnomAD_genome_EAS, n (%)	81924 (98.72)	83549 (98.59)	83441 (98.65)	83536 (98.59)
Exonic, n (%)	22847 (27.53)	23016 (27.16)	23100 (27.31)	22921 (27.05)
Splicing, n (%)	239 (0.29)	246 (0.29)	251 (0.30)	259 (0.31)
UTR3, n (%)	3103 (3.74)	3161 (3.73)	3152 (3.73)	3084 (3.64)
UTR5, n (%)	2234 (2.69)	2310 (2.73)	2305 (2.73)	2333 (2.75)
Intronic, n (%)	48754 (58.75)	50084 (59.10)	49683 (58.74)	50121 (59.15)
Intergenic, n (%)	1902 (2.29)	2108 (2.49)	2184 (2.58)	2145 (2.53)
Upstream, n (%)	816 (0.98)	881 (1.04)	882 (1.04)	827 (0.98)
Downstream, n (%)	371 (0.45)	379 (0.45)	379 (0.45)	366 (0.43)
Ncrna_exonic, n (%)	764 (0.92)	726 (0.86)	730 (0.86)	790 (0.93)
Ncrna_splicing, n (%)	6 (0.01)	8 (0.01)	4 (0.00)	3 (0.00)
Ncrna_intronic, n (%)	1888 (2.28)	1764 (2.08)	1848 (2.18)	1823 (2.15)
Synonymous SNV, n (%)	11529 (13.89)	11613 (13.70)	11559 (13.67)	11518 (13.59)
Nonsynonymous SNV, n (%)	10755 (12.96)	10727 (12.66)	10815 (12.79)	10749 (12.69)
Stopgain, n (%)	85 (0.10)	92 (0.11)	94 (0.11)	84 (0.10)
Stoploss, n (%)	10 (0.01)	10 (0.01)	11 (0.01)	8 (0.01)
Unknown, n (%)	483 (0.58)	589 (0.70)	635 (0.75)	576 (0.68)