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

Table 6 Indel distribution

Sample	Patient 1	Patient 2	Patient 3	Patient 4
Total	13495	13931	13760	13794
dbsnp, n (%)	12301 (91.15)	12675 (90.98)	12538 (91.12)	12551 (90.99)
1000g_EAS, n (%)	8269 (61.27)	8454 (60.68)	8378 (60.89)	8410 (60.97)
ExAC_EAS, n (%)	5560 (41.20)	5547 (39.82)	5562 (40.42)	5637 (40.87)
GnomAD_exome_EAS, n (%)	5306 (39.32)	5284 (37.93)	5286 (38.42)	5355 (38.82)
GnomAD_genome_EAS, n (%)	12567 (93.12)	12991 (93.25)	12760 (92.73)	12812 (92.88)
Exonic, n (%)	708 (5.25)	733 (5.26)	707 (5.14)	694 (5.03)
Splicing, n (%)	199 (1.47)	182 (1.31)	201 (1.46)	192 (1.39)
UTR3, n (%)	669 (4.96)	676 (4.85)	667 (4.85)	661 (4.79)
UTR5, n (%)	375 (2.78)	384 (2.76)	364 (2.65)	373 (2.70)
Intronic, n (%)	10469 (77.58)	10845 (77.85)	10712 (77.85)	10767 (78.06)
Intergenic, n (%)	297 (2.20)	312 (2.24)	309 (2.25)	307 (2.23)
Upstream, n (%)	160 (1.19)	187 (1.34)	170 (1.24)	184 (1.33)
Downstream, n (%)	51 (0.38)	65 (0.47)	66 (0.48)	68 (0.49)
Ncrna_exonic, n (%)	103 (0.76)	93 (0.67)	102 (0.74)	99 (0.72)
Ncrna_splicing, n (%)	0 (0.00)	2 (0.01)	4 (0.03)	1 (0.01)
Ncrna_intronic, n (%)	407 (3.02)	398 (2.86)	400 (2.91)	391 (2.83)
Frameshift insertion, n (%)	94 (0.70)	103 (0.74)	96 (0.70)	100 (0.72)
Frameshift deletion, n (%)	135 (1.00)	124 (0.89)	132 (0.96)	137 (0.99)
Nonframeshift insertion, n (%)	198 (1.47)	216 (1.55)	200 (1.45)	181 (1.31)
Nonframeshift deletion, n (%)	217 (1.61)	215 (1.54)	202 (1.47)	203 (1.47)
Stopgain, n (%)	7 (0.05)	8 (0.06)	9 (0.07)	10 (0.07)
Stoploss, n (%)	1 (0.01)	1 (0.01)	0 (0.00)	1 (0.01)
Unknown, n (%)	99 (0.73)	106 (0.76)	111 (0.81)	103 (0.75)