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* If you have new data: please send us a re-evaluation proposal here
Usual name* |
|
HGVS sequence name |
HGVS protein name |
Classification * |
Status * |
Simple variant |
Complex alleles |
|
Q40R | exon 1 | c.119A>G | p.(Gln40Arg) | Not classified | To be validated |
| | 2019-05-13 | G174Dfs*2 | exon 5 | c.517del | p.(Gly174Aspfs*2) | Not classified | To be validated |
| | 2017-04-28 | L202F | exon 6 | c.606G>C | p.(Leu202Phe) | Not classified | To be validated |
| | 2019-05-13 | Y244C | exon 6 | c.731A>G | p.(Tyr244Cys) | Not classified | To be validated |
| | 2017-04-28 | L272P | exon 6 | c.815T>C | p.(Leu272Pro) | Not classified | To be validated |
| | 2017-04-28 | c.864+2T>C | intron 6 | c.864+2T>C | - | Likely pathogenic | To be validated |
| | 2019-02-26 |
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