Table 2.

Eleven damaging amino acid changes in KRT82, the case and control frequencies and p-values.

Type	Cases	Controls	Case frequency	Control frequency	P-value
LoF	19	88	2.24%	0.56%	2.03E−06
Arg47X	15	72	1.77%	0.46%	3.42E−05
Ser27X	3	3	0.35%	0.02%	2.42E−03
Ser16fs	1	3	0.12%	0.02%	0.19
LoF + missense	47	376	5.54%	2.40%	9.19E−07
Asn129Lys	14	101	1.65%	0.65%	2.34E−03
Ile92Val	4	46	0.47%	0.29%	0.33
Glu351Lys	4	37	0.47%	0.24%	0.16
Arg314Trp	3	22	0.35%	0.14%	0.14
Arg302His	1	7	0.12%	0.04%	0.34
Gly436Arg	1	2	0.12%	0.01%	0.15
Gly436Trp	1	2	0.12%	0.01%	0.15
LoF + missense + splicing	51	404	6.01%	2.58%	2.18E−07
Arg314Gln	4	28	0.47%	0.18%	0.08

List of the 11 qualifying variants present in AA cases, sub divided by the collapsing model that identified the corresponding qualifying variants and subsequent amino acid changes (bolded). Each model includes qualifying variants from the previous model. For example, LOF + missense model includes the 3 LOF variants in 19 cases, plus 7 missense variants in 28 new cases, for a total of 10 variants in 47 cases. Qualifying variants exclusive to controls (n = 50) were not listed in this table but accounted for the total number of controls with a qualifying variant (Controls column). p-value was determined by two-tailed Fisher’s exact test (FET).