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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
|
HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
|
| exon 2 | c.133T>G | p.(Trp45Gly) | W45G | Not classified | To be validated |
| | 2014-11-07 | | exon 3 | c.192T>G | p.(Tyr64*) | Y64* | Not classified | To be validated |
| | 2014-11-07 | | exon 3 | c.251C>T | p.(Thr84Ile) | T84I | Not classified | To be validated |
| | 2012-12-06 | | exon 3 | c.301C>T | p.(Arg101Trp) | R101W | Not classified | To be validated |
| | 2012-12-06 | | exon 3 | c.350G>A | p.(Arg117His) | R117H | Not classified | To be validated |
| | 2012-12-06 | | exon 4 | c.374T>G | p.(Leu125Arg) | L125R | Not classified | To be validated |
| | 2012-12-06 | | exon 4 | c.421G>A | p.(Gly141Arg) | G141R | Not classified | To be validated |
| | 2012-12-06 | | exon 4 | c.506T>C | p.(Ile169Thr) | I169T | Not classified | To be validated |
| | 2012-12-06 | | exon 4 | c.537G>A | p.(Thr124Hisfs*8) | T179T | Not classified | To be validated |
| | 2016-12-27 | | exon 7 | c.1051A>G | p.(Arg351Gly) | R351G | Not classified | To be validated |
| | 2014-01-19 | | exon 7 | c.1216G>C | p.(Val406Leu) | V406L | Not classified | To be validated |
| | 2015-12-04 |
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