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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 21 | c.1904C>T | p.Ala635Val | A635V | Likely pathogenic | To be validated |
| | 2026-08-04 | 2026-08-05 | | exon 21 | c.1949C>A | p.Ala650Asp | A650D | Likely pathogenic | To be validated |
| | 2026-08-04 | 2026-08-05 | | exon 21 | c.1867C>T | p.His623Tyr | H623Y | Likely pathogenic | To be validated |
| | 2026-08-04 | 2026-08-05 |
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