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Information of candidate pathogenic gene loci.
| CHR | POS | ID | REF | ALT | GENE | HGVSc | HGVSp |
|---|---|---|---|---|---|---|---|
| 7 | 44185189 | rs193921338 | G | A | GCK | c.1160C > T | p. Ala387Val |
CHR, Chromosome; POS, position; ID, identification; REF, Reference; ALT, alternative; HGVSc, human genome variation society cDNA; HGVSp, human genome variation society protein; G, guanine; A, adenine.
