Table 2.
Mutation information
| Genome-level consequence | Gene | Gene-level consequence | |||
|---|---|---|---|---|---|
| NC_000002.12:g.11944690 A>C | LPIN1 | NM_145693:c.A2047C:p.I683L | |||
| NC_000002.12:g.11955273 G>A | NM_145693:c.G2201A:p.R734Q | ||||
| In silico nonsynonymous mutations deleteriousness prediction algorithms and corresponding predictions | |||||
| Mutation Variety | Polyphen2 HDIV | Polyphen2 HVAR | SIFT | MutationTaster | MutationAssessor |
| A>C | Damaging | Damaging | Damaging | Disease causing | Medium impact |
| G>A | Damaging | Damaging | Damaging | Disease causing | Medium impact |
| Frequency of variants in large-scale population studies (mutant allele count/total alleles) | |||||
| Mutation Variety | Exome Aggregation Consortium | TopMed | gnomAD-Exomes | gnomAD-Genomes | Chinese Millionome DataBase |
| A>C | 0.001647% (2/121402) | 0.00001 (1/125568) | 0 (0/246214) | 0 (0/30946) | 0 (0/141431) |
| G>A | 0 (0/121220) | 0.00001 (1/125568) | 0 (1/246214) | 0 (1/30946) | 0 (0/141431) |