Table 1. Simulated Multiple Nucleotide Variants within the HNF4A gene.
Variants are described according to Human Genome Variation Society sequence variation nomenclature guidelines 17.
| Variant
Number |
Genome position (GRCh37) | Nucleotide position | Codon
position |
Wild-type
codon |
Variant
codon |
|---|---|---|---|---|---|
| 1 | 20:43052669_43052671 | NM_175914:c.838_840 | p.Leu280 | CTG | TTC |
| 2 | 20:43053017_43053019 | NM_001030004:c.1186_1188 | p.*396 | TAA | TGG |
| 3 | 20:43056977_43056979 | NM_175914:c.1066_1068 | p.Ser356 | TCC | AGC |
| 4 | 20:43058207_43058209 | NM_175914:c.1261_1263 | p.Ser421 | TCT | TGA |
| 5 | 20:43058219_43058221 | NM_175914:c.1273_1275 | p.Lys425 | AAG | AGT |