Table 2.
Mutation position and characteristics: the positions of polymorphisms and mutations are defined according to contig NC_000015.10 for MKN3 gene and NC_000019.10 for GPR54 gene
| N | Gene | Position | Allele | Location | dbSNP ID | N patient | Note |
|---|---|---|---|---|---|---|---|
| 1 | GPR54 | chr19:920642 |
T > A T > C |
Exon 5 | rs 350,132 | 15 | Benign polymorphism |
| 2 | GPR54 | chr19:920421 | C > T | Exon 5 | rs764046537 | 1 | Missense variant |
| 3 | MKRN3 | chr15:23566445 |
C > A C > T |
– | rs2239669 | 6 | Synonymous variant |
| 4 | MKRN3 | chr15:23566883 | C > T | – | rs140467331 | 1 | Synonymous variant |
| 5 | MKRN3 | chr15:23566885 | C > G | – | rs760981395 | 1 | Missense variant |