Table 2.
Family ID | Position (Hg19) | dbSNP ID | Gene | Variant type | Effect | Average Z-scorea |
---|---|---|---|---|---|---|
G | chr22:29091856 | rs555607708 | CHEK2 | frameshift | p.Thr367fs | 2.792 |
G | chr10:72360387 | rs35947132 | PRF1 | missense | p.Ala91Val | 0.474 |
N | chr11:108143456 | rs1800057 | ATM | missense | p.Pro1054Arg | 0.456 |
M | chr11:108143456 | rs1800057 | ATM | missense | p.Pro1054Arg | 0.632 |
M | chr11:108155132 | rs149711770 | ATM | missense | p.Ala1309Thr | 0.632 |
H | chr15:86087095 | rs74502151 | AKAP13 | missense | p.Gly191Arg | 1.755 |
O | chr17:78225167 | rs140131205 | SLC26A11 | missense | p.Gly566Arg | 0.456 |
Value represents the average Z-score of the two adjacent SNP markers in linkage analysis within each family.