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