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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 |
|
| exon 1 | c.119A>G | p.(Gln40Arg) | Q40R | Not classified | To be validated |
| | 2019-05-13 | | exon 5 | c.517del | p.(Gly174Aspfs*2) | G174Dfs*2 | Not classified | To be validated |
| | 2017-04-28 | | exon 6 | c.606G>C | p.(Leu202Phe) | L202F | Not classified | To be validated |
| | 2019-05-13 | | exon 6 | c.731A>G | p.(Tyr244Cys) | Y244C | Not classified | To be validated |
| | 2017-04-28 | | exon 6 | c.815T>C | p.(Leu272Pro) | L272P | Not classified | To be validated |
| | 2017-04-28 | | intron 6 | c.864+2T>C | - | c.864+2T>C | Likely pathogenic | To be validated |
| | 2019-02-26 |
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