Table 4.
Summary of identified HGD variants
| Name | Position a | Genotype | AA Changeb | MAFc |
|---|---|---|---|---|
| rs17140398 | c.16−175 | C/G | None | 0.234 |
| rs2733825 | c.87+35 | A/T | None | 0.12 |
| rs17140396 | c.87+118 | A/G | None | 0.076 |
| Unknown | c.176+114 | T/A | None | 0.013 |
| rs2255543 | c.240 | A/T | Q>H | 0.297 |
| rs35702995 | c.260 | A/C | E>A | NDf |
| rs3732367 | c.283−145 | C/T | None | 0.032 |
| rs2551607 | c.343+25 | T/C | None | 0.127 |
| rs3817627 | c.434+46 | A/C | None | 0.62 |
| Unknown | c.468+24 | C/A | None | 0.013 |
| rs2293734 | c.474 | G/T | None | NDf |
| rs28941783d | c.481 | G/A | G>R | 0.064 |
| Unknown | c.549+31 | G/A | None | 0.006 |
| rs1862942 | c.649+104 | C/T | None | 0.095 |
| rs2075504 | c.650−86 | A/G | None | 0.057 |
| Unknown | c.650−38 | InsA | None | 0.013 |
| rs28942100d | c.688 | C/T | P>S | 0.013 |
| rs1800700 | c.879+18 | A/G | None | 0.013 |
| rs34214309 | c.970 | DupG | fse | NDf |
| Unknown | c.1007−170 | A/G | None | 0.006 |
| rs35952153 | c.1008 | DupG | fse | NDf |
| Unknown | c.1188+51 | A/G | None | 0.006 |
| Unknown | c.1188+89 | C/T | None | 0.025 |
| rs61799339 | c.1188+142 | G/T | None | 0.063 |
| rs804974 | c.1188+203 | G/A | None | 0.203 |
a
DNA variant numbering system is based on cDNA (NM_000187.2), with +1 corresponding to the A of the ATG.
b
Amino Acide (AA) modification of the variant
c
MAF: Minor Allele Frequency in our cohort
d
Variant found in dbSNP and also previously reported as a mutation
e
fs: Frameshift effect of the variant
f
ND: Not Detected in our cohort