Table 2.
Pathogenic variant description of the FHH-positive participants (n = 30)
| N° of patients affected | Gene | Nomenclature DNA | Nomenclature protein | State in the literature |
|---|---|---|---|---|
| 1 | AP2S1 | c.43C > T | p.(Arg15Cys) | Already reported |
| 1 | CASR | c.107G > A | p.(Gly36Glu) | Not described |
| 7 | CASR | c.164C > T | p.(Pro55Leu) | Already reported |
| 1 | CASR | c.413C > T | p.(Thr138Met) | Already reported |
| 1 | CASR | c.473G > C | p.(Gly158Ala) | Not described |
| 1 | CASR | c.491A > G | p.(Gln164Arg) | Already reported |
| 1 | CASR | c.492+1G > A | NA | Not described |
| 2 | CASR | c.554G > A | p.(Arg185Gln) | Already reported |
| 1 | CASR | c.659G > A | p.(Arg220Gln) | Already reported |
| 1 | CASR | c.1394G > A | p.(Arg465Gln) | Already reported |
| 1 | CASR | c.1636T>G | p.(Cys546Gly) | Already reported |
| 1 | CASR | c.2039G > A | p.(Arg680His) | Already reported |
| 1 | CASR | c.2089G > A | p.(Val697Met) | Already reported |
| 1 | CASR | c.2101C > G | p.(Arg701Gly) | Already reported |
| 1 | CASR | c.2393C > T | p.(Pro798Leu) | Already reported |
| 2 | CASR | c.2411C > A | p.(Ala804Asp) | Already reported |
| 2 | CASR | c.2485del | p.(Tyr829Metfster8) | Not described |
| 1 | CASR | c.2525T > C | p.(Leu842Pro) | Not described |
| 2 | CASR | c.2656C > G | p.(Arg886Gly) | Not described |
| 1 | CASR | c.3236A > C | p.(Ter1079Serext*8) | Not described |
NA not applicable