Table 1.
Affects function variants of the TTR gene from the gnomAD database
| Variant | Allele count | Exome/gnome number | Number of homozygotes | Allele frequency | |
|---|---|---|---|---|---|
| Affects function variants | c.88T>C (p.(Cys30Arg)) | 1 | 15492 | 0 | 0.0000323 |
| c.122G>A (p.(Arg41Gln)) | 2 | 123121 | 0 | 0.0000081 | |
| c.148G>A (p.(Val50Met)) | 25 | 123118 | 0 | 0.000102 | |
| c.190T>C (p.(Phe64Leu)) | 14 | 138600 | 0 | 0.0000505 | |
| c.227A>G (p.(His76Arg)) | 1 | 15491 | 0 | 0.0000323 | |
| c.238A>G (p.(Thr80Ala)) | 1 | 123108 | 0 | 0.0000041 | |
| c.250T>C (p.(Phe84Leu)) | 1 | 123106 | 0 | 0.0000041 | |
| c.262A>T (p.(Ile88Leu)) | 6 | 138591 | 0 | 0.0000217 | |
| c.301G>A (p.(Ala101Thr)) | 3 | 123095 | 0 | 0.0000122 | |
| c.349G>T (p.(Ala117Ser)) | 2 | 138367 | 0 | 0.0000072 | |
| c.424G>A (p.(Val142Ile)) | 417 | 138570 | 3 | 0.00151 |
Bold values indicate only that it is the highest allele frequency value in the group