Table 1 Nonsynonymous SNVs identified in our study
From: Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy
Genomic description (GRCh38, NC_000015.10) | mRNA (NM_019066.4) | Protein | MAF in our study | MAF in HGVD | dbSNP151 | Inheritance |
|---|---|---|---|---|---|---|
g.23645492 T > C | c.2251A > G | p.(I751V) | 2/210 (0.009) | 0.037 | rs374443204 | NA |
g.23645941G > T | c.1802C > A | p.(P601Q) | 1/210 (0.005) | 0 | No | Maternal |
g.23645974G > T | c.1769C > A | p.(P590H) | 1/210 (0.005) | 0.004 | No | NA |
g.23646356C > G | c.1387G > C | p.(A463P) | 5/210 (0.02) | 0.034 | rs2233063 | NA |
g.23646383C > T | c.1360G > A | p.(A454T) | 1/210 (0.005) | 0.011 | rs548001629 | NA |
g.23646439G > A | c.1304C > T | p.(P435L) | 3/210 (0.01) | 0.007 | rs2233062 | NA |
g.23646644C > A | c.1099G > T | p.(G367C) | 2/210 (0.01) | 0.002 | rs576068111 | NA |
g.23646905 T > G | c.838A > C | p.(K280Q) | 1/210 (0.005) | 0.008 | rs1177517513 | NA |
g.23646890C > T | c.853G > A | p.(G285R) | 5/210 (0.025) | 0.024 | rs143908070 | NA |
g.23647282G > C | c.461C > G | p.(P154R) | 1/210 (0.005) | 0.001 | rs1460068607 | NA |
g.23647346A > G | c.397 T > C | p.(S133P) | 1/210 (0.005) | 0.002 | rs1410473331 | NA |
g.23647424C > T | c.319G > A | p.(V107I) | 1/210 (0.005) | 0.003 | rs922355971 | NA |
g.23647456C > T | c.287G > A | p.(G96E) | 1/210 (0.005) | 0 | No | Maternal |