Table 2.
List of all Exonic Variants with Low Frequency in the European Population in Xq27.3-Xq28
| HGVS Name | Gene | Predicted Function | Predicted Protein Change | 1II:4 | 2III:5 | |
|---|---|---|---|---|---|---|
| NM_002025.2:c.1653A>G | AFF2 | silent | p.(=) | − | + | |
| NM_001183.4:c.∗461A>C | ATP6AP1 | 3′ UTR | p.(=) | − | + | |
| NM_001009932.1:c.364G>A | DNASE1L1 | silent | p.(=) | + | − | |
| NM_001110556.1:c.5217G>A | FLNA | silent | p.(=) | + | + | |
| NM_001110556.1:c.5814C>T | FLNA | silent | p.(=) | − | + | rs2070825, high frequency in a group of multiple populations |
| NM_001110556.1:c.5850T>C | FLNA | silent | p.(=) | + | − | does not segregate with phenotype |
| NM_004961.3:c.186G>A | GABRE | silent | p.(=) | + | − | |
| NM_005342.2:c.166G>C | HMGB3 | missense | p.(Glu56Gln) | − | + | |
| NM_005367.4:c.888A>G | MAGEA12 | silent | p.(=) | − | + | |
| NM_005362.3:c.455G>T | MAGEA6 | missense | p.(Ser152Ile) | + | − | repetitive region |
| NM_005365.4:c.92C>A | MAGEA9 | missense | p.(Pro31His) | + | − | repetitive region |
| NM_001170944.1:c.468C>T | PNMA6B | silent | p.(=) | + | − | |
| NM_005629.3:c.324A>G | SLC6A8 | silent | p.(=) | − | + | |
| NM_032539.2:c.1002T>C | SLITRK2 | silent | p.(=) | − | + | |
| NM_032539.2:c.309G>A | SLITRK2 | silent | p.(=) | − | + | |
| NM_001009615.1:c.240C>A | SPANXN2 | silent | p.(=) | + | − | |
| NM_014370.2:c.1014G>A | SRPK3 | silent | p.(=) | + | − | |
| NM_006280.1:c.430G>A | SSR4 | missense | p.(Gly144Arg) | + | − |
All of the HGVS numbers were generated with the use of the longest isoforms if multiple transcripts existed.