Table 1 Identified missense TTR variants
TTR variant | References | Number of heterozygous | Number of homozygous | Allele frequency |
|---|---|---|---|---|
Known to affect TTR function | ||||
c.239C>T:p.Thr80Ile | [17] | 2 | 0 | 0.00007191 |
c.238A>G:p.Thr80Ala | 1 | 0 | 0.00003596 | |
c.424G>A:p.Val142Ile | 28 | 0 | 0.00100676 | |
Variants of unknown significance | ||||
c.368G>A:p.Arg123His | [17] | 2 | 0 | 0.00007191 |
c.370C>T:p.Arg124Cys | [17] | 6 | 0 | 0.00021573 |
c.385G>A:p.Ala129Thr | [17] | 3 | 0 | 0.00010787 |
Benign/likely benign | ||||
c.76G>A:p.Gly26Ser | [17] | 178 | 0 | 0.00640012 |
c.140A>G:p.Asn47Ser | [17] | 2 | 0 | 0.00007191 |
c.328C>A:p.His110Asn | [17] | 239 | 6 | 0.00902488 |
Novel variants | ||||
c.404C>T:p.Ser135Phe | [17] | 1 | 0 | 0.00003596 |
c.428C>T:p.Thr143Ile | [17] | 1 | 0 | 0.00003596 |
c.298A>G:p.Lys100Glu | [17] | 1 | 0 | 0.00003596 |