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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 |
|
| intron 4 | c.519-2A>G | p.? | c.519-2A>G | Likely pathogenic | To be validated |
| | 2020-02-17 | | exon 5 | c.597G>A | p.Val199Val | V199V | Likely pathogenic | To be validated |
| | 2020-02-17 | | intron 5 | c.671+2T>G | p.? | c.671+2T>G | Likely pathogenic | To be validated |
| | 2020-02-17 | | intron 5 | c.671+5G>A | p.? | c.671+5G>A | Likely pathogenic | To be validated |
| | 2020-02-17 |
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