*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 3 | c.121A>G | p.Met41Val | M41V | Pathogenic | To be validated |
| | 2020-11-18 | exon 3 | c.121A>C | p.Met41Leu | M41L | Pathogenic | To be validated |
| | 2020-11-18 | exon 3 | c.122T>C | p.Met41Thr | M41T | Pathogenic | To be validated |
| | 2020-11-18 |
|