*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.53delT | p.(Leu18Trpfs*12) | W18fsX29 | Not classified | To be validated |
| | 2013-01-09 | exon 3 | c.197G>A | p.(Cys66Tyr) | C66Y | Not classified | To be validated |
| | 2012-11-29 | intron 3 | c.331+1G>C | p.(Leu59fs*72) | IVS3+1G>C | Not classified | To be validated |
| | 2013-01-09 | exon 4 | c.477G>A | p.(Trp159*) | W159X | Not classified | To be validated |
| | 2012-11-29 | exon 5 | c.611G>A | p.(Trp204*) | W204X | Not classified | To be validated |
| |
2012-11-29 | exon 5 | c.689C>A | p.(Ser230*) | S230X | Not classified | To be validated |
| |
2012-11-29 |
|