Table 3.

Genotype and eGFR slope quartiles

	Males				Females
	eGFR slope Quartile 1 (−1.2 to +5.3), N = 38	eGFR slope Quartile 2 (−2.8 to −1.3), N = 38	eGFR slope Quartile 3 (−4.8 to −2.9), N = 38	eGFR slope Quartile 4 (−15.5 to −4.9), N = 37	eGFR slope Quartile 1 (+1.1 to +7.5), N = 15	eGFR slope Quartile 2 (−0.4 to +1.0), N = 16	eGFR slope Quartile 3 (−2.3 to −0.4), N = 16	eGFR slope Quartile 4 (−7.6 to −2.4), N = 15
Mutation type, n (%)a
Nonsense	3 (18.8)	1 (3.6)	5 (31.3)	7 (43.8)	3 (23.1)	3 (23.1)	2 (15.4)	5 (38.5)
Missense	23 (32.4)	21 (29.6)	15 (21.1)	12 (16.9)	5 (17.2)	10 (34.5)	9 (31.0)	5 (17.2)
Splice site	0	2 (40.0)	2 (40.0)	1 (20.0)	0	0	1 (50.0)	1 (50.0)
Frameshift	3 (25.0)	2 (16.7)	4 (33.3)	3 (25.0)	3 (50.0)	3 (50.0)	0	0
Intronic	0	1 (100.0)	0	0	0	0	0	0
Initiator codon	0	1 (100.0)	0	0	0	0	0	0
Small deletion (no frameshift)	2 (66.7)	1 (33.3)	0	0	0	0	0	0
Small insertion (no frameshift)	0	0	0	0	0	0	1 (100.0)	0
Other	0	0	0	1 (100.0)	0	0	1 (100.0)	0
Not available	7 (17.1)	9 (22.0)	12 (29.3)	13 (31.7)	4 (40.0)	0	2 (20.0)	4 (40.0)
Five most prevalent missense genotypes, n (%)b
N215S	2 (2.8)	1 (1.4)	2 (2.8)	0	0	0	0	1 (3.4)
L415P	4 (5.6)	0	0	0	0	0	0	0
R301Q	2 (2.8)	2 (2.8)	0	0	0	0	0	0
P259R	1 (1.4)	0	0	1 (1.4)	1 (3.4)	1 (3.4)	0	0
C52G	1 (1.4)	0	0	0	0	2 (6.9)	0	0

^aFor mutation type, percentages were calculated based on the total number of patients with each type of mutation, by gender.

^bThese five missense mutations (N215S, L415P, R301Q, P259R and C52G) were the only genotypes reported by more than two patients in this cohort. Percentages for these five genotypes were calculated based on the total number of patients who reported missense mutations, by gender (n = 71 men and n = 29 women).