*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.
** If you have new data: please send us a re-evaluation proposal here
|
HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
|
|
exon 7 | c.691T>C | p.(Trp231Arg) | p.W231R | Pathogenic | To be validated |
| | 2022-03-28 | 2022-06-13 | exon 7 | c.752G>C | p.(Trp251Ser) | p.W251S | Pathogenic | To be validated |
| | 2022-03-28 | 2022-03-30 | exon 8 | c.1015delG | p.(Ala339Profs*32) | p.A339fs | Pathogenic | To be validated |
| | 2022-03-28 | 2022-03-30 |
|