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

Table 7 Specific information about IGSF10, KLB, ANOS1 mutation

Type	Patient 1	Patient 2	Patient 3	Patient 4
Chr.Start.End	chr3.151161279.151161279	chr3.151164665.151164665	chr4.39435942.39435942	chrX.8565101.8565101
Vcf_mut	T/C	C/G	C/T	C/A
GT	0/1	0/1	0/1	1/1
AD	51/53	30/31	34/47	0/86
AAChange.HGVS	IGSF10:NM_178822.4:5/6:c.5456A>G:p.(Lys1819Arg)	IGSF10:NM_178822.4:4/6:c.3104G>C:p.(Arg1035Thr)	KLB:NM_175737:exon2:c.C938T:p.T313M	ANOS1:NM_000216:exon4:c.G515T:p.C172F
cytoBand	3q25.1	3q25.1	4p14	Xp22.31
InterVar_automated	Uncertain significance	Uncertain significance	Uncertain significance	Uncertain significance
ACMG(missense only)	PM1,PM2,BP4	.	PM1,BP4	PM1,PM2,PP3
gnomAD_exome_ALL	.	0.0004	0.0001	0
SIFT_pred	T	D	T	D
Polyphen2_HDIV_score	0.011	0.981	0.036	1
Polyphen2_HDIV_pred	B	D	B	D
Polyphen2_HVAR_score	0.056	0.69	0.016	1
Polyphen2_HVAR_pred	B	P	B	D
LRT_score	0.039	0	0.59	0
LRT_pred	N	D	N	D
MutationTaster_score	0.808	1	1	1
MutationTaster_pred	D	N	N	D
MutationAssessor_score	0.15	2.47	2.535	4.455
MutationAssessor_pred	N	M	M	H
FATHMM_score	-0.27	-0.65	1.43	-5.61
FATHMM_pred	T	T	T	D
CADD_raw	0.585	1.94	-0.287	6.358
CADD_phred	8.054	15.84	0.711	29.4
fathmm-MKL_coding_score	0.039	0.257	0.068	0.967
fathmm-MKL_coding_pred	N	N	N	D
GERP++_RS	0.193	5.46	-7.48	4.51