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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 2 | c.249_253del | p.Asp84Serfs*119 | delTGACC | Pathogenic | To be validated |
| | 2021-02-12 | | | exon 2 | c.508_509dup | p.Ala171Argfs*15 | c.508_509insA | Pathogenic | To be validated |
| | 2021-02-12 | 2021-02-12 | | exon 2 | c.653T>C | p.(Val218Ala) | V218A | Likely pathogenic | To be validated |
| | 2021-02-12 | | | exon 2 | c.656G>A | p.(Arg219His) | R219H | Pathogenic | To be validated |
| | 2021-02-12 | | | exon 2 | c.742_747del | p.(Ser248_Arg249del) | c.739_744delCGCAGC | Pathogenic | To be validated |
| | 2021-02-12 | 2021-02-12 |
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