Table 1.
Reported pathogenic variants in TRNT1
| HG19 | NT | PRO | Exon | References |
|---|---|---|---|---|
| chr3:3170850:AGA>- | c.126_128delAGA | p.E43 inframe | Exon 2 | This study |
| chr3:3179013_3179014:TA>Tins22A | c.218_219ins22 | p.V73fs | Exon 3 | (6) |
| chr3:3182234:A>G | c.383A>G | p.D128G | Exon 4 | (4) |
| chr3:3182294:C>T | c.443C>T | p.A148V | Exon 4 | (4) |
| chr3:3182312:C>T | c.461C>T | p.T154I | Exon 4 | (6) |
| chr3:3182323:A>G | c.472A>G | p.M158V | Exon 4 | (6) |
| chr3:3186283:T>C | c.497T>C | p.L166S | Exon 5 | (6) |
| chr3:3186304:A>T | c.518A>T | p.Y173F | Exon 5 | (4) |
| chr3:3186355:G>T | c.569G>T | p.R190I | Exon 5 | (6) |
| chr3:3186395:G>T | c.608+1G>T | IVS5 | (6) | |
| chr3:3188088:T>C | c.609-26T>C | IVS5 | This study | |
| chr3:3188173:T>C | c.668T>C | p.I223T | Exon 6 | (6) |
| chr3:3189308:T>C | c.977T>C | p.I326T | Exon 7 | (6) |
| chr3:3189385_3189397:GATGTAAGTATAT>- | c.1054_1056+10delGATGTAAGTATAT | p.D352 inframe | Exon 7 | (6) |
| chr3:3189583:C>G | c.1057-7C>G | IVS7 | (6) | |
| chr3:3189674_3189675:TG>TATGTG | c.1142insATGT | p.W381fs | Exon 8 | (6) |
| chr3:3189785_3189786:AG>AAG | c.1246A[8] | p.S418fs | Exon 8 | (6), This study |
| chr3:3189779:A>G | c.1246A>G | p.K416E | Exon 8 | (6) |
| chr3:3189786:A>- | c.1246A[6] | p.S418fs | Exon 8 | This study |