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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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| 5 flanking | c.-95delC | p.? | c.-95delC | Pathogenic | To be validated |
| | 2019-06-05 | 2020-05-25 | | exon 5 | c.333del | p.(Ile112Leufs*21) | p.t111fs | Likely pathogenic | To be validated |
| | 2024-03-03 | | | exon 5 | c.334_335delAT | p.(Ile112Trpfs*3) | Ile112Trpfs*3 | Pathogenic | To be validated |
| | 2019-06-05 | 2021-01-22 | | exon 5 | c.342_348delinsACC | p.(Phe114Leufs*18) | Phe114Leufs*18 | Pathogenic | To be validated |
| | 2019-06-05 | 2021-01-22 |
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