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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 |
|
W18fsX29 | exon 2 | c.53delT | p.(Leu18Trpfs*12) | Not classified | To be validated |
| | 2013-01-09 | C66Y | exon 3 | c.197G>A | p.(Cys66Tyr) | Not classified | To be validated |
| | 2012-11-29 | IVS3+1G>C | intron 3 | c.331+1G>C | p.(Leu59fs*72) | Not classified | To be validated |
| | 2013-01-09 | W159X | exon 4 | c.477G>A | p.(Trp159*) | Not classified | To be validated |
| | 2012-11-29 | W204X | exon 5 | c.611G>A | p.(Trp204*) | Not classified | To be validated |
| |
2012-11-29 | S230X | exon 5 | c.689C>A | p.(Ser230*) | Not classified | To be validated |
| |
2012-11-29 |
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