|
* If you have new data: please send us a re-evaluation proposal here
|
HGVS sequence name |
HGVS protein name |
Classification * |
Status * |
Simple variant |
Complex alleles |
|
| exon 5 | c.517del | p.Gly174Aspfs*2 | Not classified | To be validated |
| | 2017-04-28 | | exon 6 | c.731A>G | p.Tyr244Cys | Not classified | To be validated |
| | 2017-04-28 | | exon 6 | c.815T>C | p.Leu272Pro | Not classified | To be validated |
| | 2017-04-28 | | intron 6 | c.864+2T>C | - | Likely pathogenic | To be validated |
| | 2019-02-26 |
|
