Table 3 RSPO2 variations in 100 women with POI
Sequence variation | Location | Amino Acid variation | dSNP identifier | Exome Genome Variant (%) | 1000 Genomes (%) | Allele frequency in patients (%) | |
|---|---|---|---|---|---|---|---|
heterozygote | homozygote | ||||||
c.-500 A > G | Exon 1 | 0 (5’UTR) | rs55916111 | / | 4.4 | 10 | 4 |
c.-359 C > G | Exon 1 | 0 (5’UTR) | / | / | / | 2 | 0 |
c.-190 G > A | Exon 1 | 0 (5’UTR) | / | / | / | 1 | 0 |
c.-170 + 13C > T | Intron 1 | 0 (intron) | / | / | / | 1 | 0 |
c.-169-8 T > A | Intron 1 | 0 (intron) | / | / | / | 2 | 0 |
c.-138 A > G | Exon 2 | 0 (5’UTR) | rs112769314 | / | 2.1 | 1 | 0 |
c.94 + 26 G > A | Intron 2 | 0 (intron) | rs10955475 | 18.7 | 21.4 | 23 | 2 |
c.557 T > C | Exon 5 | L186P | rs601558 | 89.7 | 46.3 | 51 | 20 |
c.616 + 43_616 + 44 insTG | Intron 5 | 0 (intron) | rs35069883 | 89.4 | 46.1 | 51 | 20 |