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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.62T>C | p.(Ile21Thr) | I21T | Pathogenic | To be validated |
| | 2021-01-11 | | | exon 2 | c.68A>G | p.(Tyr23Cys) | T23C | Pathogenic | To be validated |
| | 2021-01-11 | 2021-08-05 | | exon 2 | c.101C>A | p.(Pro34Gln) | P34Q | Likely pathogenic | To be validated |
| | 2021-04-17 | | | exon 4 | c.191A>G | p.(Tyr64Cys) | Y64C | Pathogenic | To be validated |
| | 2021-01-11 | 2021-03-05 | | exon 4 | c.196A>G | p.(Arg66Gly) | R66G | Pathogenic | To be validated |
| | 2021-01-11 | | | exon 4 | c.203G>A | p.(Arg68Gln) | R68Q | Pathogenic | To be validated |
| | 2021-01-11 | | | exon 4 | c.242G>T | p.(Cys81Phe) | C81F | Pathogenic | To be validated |
| | 2021-01-11 | | | exon 4 | c.242G>A | p.(Cys81Tyr) | C81Y | Likely pathogenic | To be validated |
| | 2020-06-02 | | | exon 4 | c.247T>C | p.(Ser83Pro) | S83P | Pathogenic | To be validated |
| | 2021-01-11 | | | exon 5 | c.476C>T | p.(Ala159Val) | A159V | Pathogenic | To be validated |
| | 2021-01-11 | | | exon 6 | c.511G>A | p.(Glu171Lys) | E171K | Pathogenic | To be validated |
| | 2021-01-11 | | | exon 6 | c.556C>T | p.(Arg186Cys) | R186C | Likely pathogenic | To be validated |
| | 2019-11-20 | 2021-02-18 | | exon 6 | c.563G>A | p.(Cys188Tyr) | C188Y | Likely pathogenic | To be validated |
| | 2019-11-20 | 2020-11-24 | | exon 6 | c.576A>C | p.(Ter192Cysext*24) | *192C*24 | Likely pathogenic | To be validated |
| | 2019-11-21 | 2023-05-10 |
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