Table V.
Gene/variant | Exon | Function | AA (n) | CC (n) | p-Value |
---|---|---|---|---|---|
PTPN11 | |||||
Total assayed | 18 | 57 | 0.011‡ | ||
G503V | 13 | PP | 2 | 0 | |
T507A | 13 | PP | 1 | 0 | |
PTEN | |||||
Total assayed | 18 | 55 | 0.005‡ | ||
Q17X | 1 | P | 0 | 1 | |
T26fs | 1 | P | 0 | 2 | |
G129V | 5 | PP | 0 | 1 | |
Q87X | 5 | P | 0 | 1 | |
L193fs | 6 | P | 0 | 1 | |
Q171X | 6 | P | 0 | 1 | |
R173H | 6 | P | 0 | 1 | |
Y176fs | 6 | P | 0 | 1 | |
Y180X | 6 | P | 0 | 1 | |
I253fs | 7 | P | 0 | 2 | |
P246L | 7 | P | 0 | 1 | |
S226fs | 7 | P | 0 | 1 | |
R335X | 8 | P | 0 | 1 | |
V317fs | 8 | P | 0 | 1 | |
V315X | 8 | P | 0 | 2 | |
TP53 | |||||
Total assayed | 18 | 58 | 0.024‡ | ||
N29fs | 3 | P | 0 | 1 | |
H115fs | 4 | P | 0 | 1 | |
L130V | 5 | PP | 0 | 1 | |
R175H | 5 | P | 0 | 2 | |
R181H | 5 | PP | 0 | 1 | |
V143A | 5 | PP | 0 | 1 | |
H193P | 6 | PP | 0 | 1 | |
I195T | 6 | PP | 0 | 1 | |
Y205fs | 6 | P | 0 | 1 | |
Y220C | 6 | P | 0 | 1 | |
G244D | 7 | PP | 0 | 1 | |
R248Q | 7 | P | 0 | 2 | |
Y234C | 7 | PP | 0 | 1 | |
C275S | 8 | PP | 1 | 0 | |
F270L | 8 | PP | 1 | 0 | |
G266E | 8 | PP | 0 | 1 | |
P278S | 8 | PP | 0 | 1 | |
P301fs | 8 | P | 0 | 2 | |
R267W | 8 | PP | 0 | 1 | |
R273C | 8 | 5 | 0 | 5 | |
R273H | 8 | P | 1 | 1 | |
R306X | 8 | P | 0 | 1 | |
R337C | 10 | P | 0 | 1 | |
R342X | 10 | P | 0 | 1 |
AA, African Americans; CC, Caucasians; Fs, frameshift; P, pathogenic; PP, presumed pathogenic; X, stop codon.
Chi-square test.