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*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
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HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
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| intron 2 | c.118-9_118-2del | p.? | c.118-9_118-2del | Pathogenic | To be validated |
| | 2022-01-10 | 2022-01-10 | | exon 3 | c.118-1G>C | p.Gly40_Lys43del | c.118-1G>C | Pathogenic | To be validated |
| | 2021-04-15 | 2021-11-09 | | exon 3 | c.121A>C | p.Met41Leu | M41L | Pathogenic | To be validated |
| | 2020-11-18 | 2021-03-31 | | exon 3 | c.121A>G | p.Met41Val | M41V | Pathogenic | To be validated |
| | 2020-11-18 | 2021-03-31 | | exon 3 | c.122T>C | p.Met41Thr | M41T | Pathogenic | To be validated |
| | 2020-11-18 | 2021-03-31 | | exon 3 | c.167C>T | p.(Ser56Phe) | S56F | Likely pathogenic | To be validated |
| | 2021-05-27 | 2021-11-24 |
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