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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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| exon 5 | c.542C>T | p.(Pro181Leu) | P181L | Pathogenic | To be validated |
| | 2025-12-09 | | | exon 5 | c.567C>A | p.(Asp189Glu) | D189E | Pathogenic | To be validated |
| | 2025-12-09 | | | exon 6 | c.602G>A | p.(Arg201Gln) | R201Q | Pathogenic | To be validated |
| | 2025-12-09 | | | exon 7 | c.743A>G | p.(Tyr248Cys) | Y248C | Pathogenic | To be validated |
| | 2025-12-09 | | | exon 8 | c.968C>T | p.(Ala323Val) | A323V | Pathogenic | To be validated |
| | 2025-12-09 | | | exon 9 | c.1090del | p.(Ala364ArgfsTer45) | A364Rfs*45 | Pathogenic | To be validated |
| | 2025-12-09 | 2025-12-10 | | exon 11 | c.1370G>A | p.(Gly457Asp) | G457D | Pathogenic | To be validated |
| | 2025-12-09 | |
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