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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)ProteinMAF in our studyMAF in HGVDdbSNP151Inheritance
g.23645492 T > Cc.2251A > Gp.(I751V)2/210 (0.009)0.037rs374443204NA
g.23645941G > Tc.1802C > Ap.(P601Q)1/210 (0.005)0NoMaternal
g.23645974G > Tc.1769C > Ap.(P590H)1/210 (0.005)0.004NoNA
g.23646356C > Gc.1387G > Cp.(A463P)5/210 (0.02)0.034rs2233063NA
g.23646383C > Tc.1360G > Ap.(A454T)1/210 (0.005)0.011rs548001629NA
g.23646439G > Ac.1304C > Tp.(P435L)3/210 (0.01)0.007rs2233062NA
g.23646644C > Ac.1099G > Tp.(G367C)2/210 (0.01)0.002rs576068111NA
g.23646905 T > Gc.838A > Cp.(K280Q)1/210 (0.005)0.008rs1177517513NA
g.23646890C > Tc.853G > Ap.(G285R)5/210 (0.025)0.024rs143908070NA
g.23647282G > Cc.461C > Gp.(P154R)1/210 (0.005)0.001rs1460068607NA
g.23647346A > Gc.397 T > Cp.(S133P)1/210 (0.005)0.002rs1410473331NA
g.23647424C > Tc.319G > Ap.(V107I)1/210 (0.005)0.003rs922355971NA
g.23647456C > Tc.287G > Ap.(G96E)1/210 (0.005)0NoMaternal
  1. HGVD Human Genetic Variation Database, MAF minor allele frequency, NA not available