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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 1 | c.(-210+1_-209-1)_(809+1_810-1)del | p.0 | Deletion_exons_2-7 | Pathogenic | To be validated |
| | 2024-01-22 | 2024-03-12 | | exon 3 | c.115C>T | p.(Gln39*) | p.(Q39X) | Pathogenic | To be validated |
| | 2024-01-22 | 2024-03-05 | | exon 5 | c.443del | p.(Gly148Valfs*113) | p.(G148Vfs*113) | Pathogenic | To be validated |
| | 2024-01-22 | 2024-03-05 | | exon 5 | c.465del | p.(His156Ilefs*105) | p.(H156Ifs*105) | Pathogenic | To be validated |
| | 2024-01-22 | 2024-03-05 | | exon 6 | c.553C>T | p.(Arg185*) | p.(R185X) | Pathogenic | To be validated |
| | 2024-01-22 | 2024-03-05 | | exon 7 | c.636G>T | p.(Trp212Cys) | p.(W212C) | Pathogenic | To be validated |
| | 2024-01-22 | 2024-03-05 | | exon 7 | c.691T>C | p.(Trp231Arg) | p.W231R | Pathogenic | To be validated |
| | 2022-03-28 | 2022-06-13 | | exon 7 | c.700C>T | p.(Arg234*) | p.(R234X) | Pathogenic | To be validated |
| | 2024-01-22 | 2024-03-05 | | exon 7 | c.743C>T | p.(Ser248Phe) | p.(S248F) | Pathogenic | To be validated |
| | 2024-01-22 | 2024-03-05 | | exon 7 | c.752G>C | p.(Trp251Ser) | p.W251S | Pathogenic | To be validated |
| | 2022-03-28 | 2022-03-30 | | exon 8 | c.1015delG | p.(Ala339Profs*32) | p.A339fs | Pathogenic | To be validated |
| | 2022-03-28 | 2022-03-30 |
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