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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 11 | c.1391_1392del | p.(Thr464Argfs*26) | T464Rfs*26 | Likely pathogenic | To be validated |
| | 2021-09-20 | 2021-10-07 | | exon 11 | c.1459del | p.(His487Thrfs*7) | H487Tfs*7 | Pathogenic | To be validated |
| | 2021-09-20 | 2021-10-06 | | intron 6 | c.559+1G>A | p.Thr164Profs*12 | c.559+1G>A | Pathogenic | To be validated |
| | 2021-09-20 | | | exon 8 | c.736C>T | p.(Arg246*) | R246* | Likely pathogenic | To be validated |
| | 2021-09-20 | | | exon 11 | c.1227del | p.(Val410Serfs*4) | V410Sfs*4 | Likely pathogenic | To be validated |
| | 2021-09-20 | |
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