Table 2.

Minor allele frequency distribution of KLK3 gene substitutions in infertile and fertile men.

S.No.	Substitution	Location as per GRCh37	rs number	Nomenclature	Amino acid Change	Polyphen prediction	SIFT prediction	Minor allele	Minor allele frequency (MAF)		Reported MAF
									Infertile	Fertile
1	C/T	51358208	Novel	c.-4C > T				T	0.0041	0.004
2	C/A	51358333	rs266881		P/Q*	0	—	A	0.4	0.22	0.38
3	C/T	51358394	rs2292186					T	0.16	0.18	0.25
4	T/C	51359497	rs11573					C	0.06	0.0	0.40
5	A/G	51359503	rs1135766					G	0.034	0.0	0.40
6	A/C	51359530	rs200846924					C	0.001	0.004	—
7	G/A	51359716	rs2053087					A	0.017	0.002	—
8	T/C	51359852	rs174776					T	0.485	0.615	0.21
9	T/C	51359890	Novel	c.206 + 235 T > C				C	0.04	0.09
10	T/A	51359930	Novel	c.206 + 275 T > A				A	0.001	0.002
11	C/T	51361315	rs12946					T	0.054	0.062	0.10
12	C/T	51361381	TMP_ESP_19_51361381					T	0.003	0.0	–
13	G/A	51361382	rs61752561		D/N	0.001	1	A	0.011	0.005	0.01
14	C/A	51361472	rs2003783		L/I	0.004	1	A	0.042	0.033	0.10
15	A/G	51361644	rs1810020					A	0.299	0.371	0.20
16	C/G	51361750	Novel	c.529 C > G	H/D	0.001	–	G	0.0024	0.0
17	T/C	51361757	rs17632542		I/T	0.069	0.02	C	0.026	0.026	0.03
18	T/A	51361769	Novel	c.548 T > A	V/E	0.002	>0.05	A	0.00	0.061
19	C/T	51361775	Novel	c.554 C > T	A/V	0.414	>0.05	T	0.0006	0.0
20	G/A	51361937	rs266875					G	0.46	0.51	0.42
21	C/T	51362803	rs35192866					T	0.035	0.013	0.09
22	G/A	51362804	rs73932617		E/K#	0.116	0.0	A	0.027	0.0	0.03
23	G/A	51362955	rs45588133					A	0.04	0.045	0.09
24	C/T	51363026	rs2659122					T	0.46	0.36	0.40(C)
25	C/A	51363053	Novel	c.631–175 C > A				A	0.015	0.00
26	G/A	51363278	rs61736309					A	0.004	0.00	<0.01
27	G/A	51363661	rs6998					A	0.196	0.152	0.31
28	G/A	51364030	Novel	c.*648 G > A				A	0.003	0.00

*2 with ref to ENST00000596185; ^#24 with ref to ENST00000597483; Rest according to ENST00000326003.