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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 26 | c.3056A>G | p.(Asp1019Gly) | p.(Asp1019Gly) | Likely pathogenic | To be validated |
| | 2026-06-05 | | | exon 29 | c.3494A>G | p.(Asp1165Gly) | p.(Asp1165Gly) | Likely pathogenic | To be validated |
| | 2026-06-05 | | | exon 12 | c.1139A>G | p.(His380Arg) | p.(His380Arg) | Uncertain significance (VUS) | To be validated |
| | 2026-06-05 | | | exon 16 | c.1789C>T | p.(Leu597Phe) | p.(Leu597Phe) | Uncertain significance (VUS) | To be validated |
| | 2026-06-05 | | | exon 26 | c.3062C>T | p.Ser1021Phe | S1021F | Pathogenic | To be validated |
| | 2023-11-30 | |
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