Table 2.
Variant | White | Hispanic | Black | Mixed/Other | Transmitted | Non-transmitted | TDT p |
---|---|---|---|---|---|---|---|
p.Lys38Glu | 232 | 44 | 21 | 17 | 3 | 4 | 0.71 |
p.Arg261His | 30 | 3 | 0 | 7 | 0 | 0 | – |
p.Ala494Val | 49 | 7 | 2 | 9 | 0 | 1 | 0.31 |
p.Ile682Asn | 190 | 41 | 22 | 10 | 1 | 0 | 0.32 |
p.Asp472Asn | 221 | 44 | 23 | 17 | 101 | 116 | 0.31 |
All variants1 | 215 | 43 | 21 | 17 | 104 | 119 | 0.32 |
1For UTMB59, the father transmitted the minor allele for both c.112A > G (p.Lys38Glu) and c.1414G > A (p.Asp472Asn) variants to the child. On the other hand, for each of two trios UTMB132 and UTMB206 one parent carried both c.112A > G (p.Lys38Glu) and c.1414G > A (p.Asp472Asn) variants but did not transmit the minor alleles to the child.