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* If you have new data: please send us a re-evaluation proposal here
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HGVS sequence name |
HGVS protein name |
Classification * |
Status * |
Simple variant |
Complex alleles |
|
| 5UT | c.-173A>T | - | Not classified | Not validated |
| | 2013-08-27 | | intron 3 | c.288+63G>A | - | Not classified | Not validated |
| | 2013-09-12 | | exon 4 | c.540_541del | p.Cys181* | Not classified | Not validated |
| | 2005-07-01 | | exon 7 | c.991G>T | p.Ala331Ser | Not classified | Not validated |
| | 2008-03-28 | | exon 7 | c.1043C>T | p.Pro348Leu | Not classified | Not validated |
| | 2008-03-28 | | exon 7 | c.1159A>G | p.Lys387Glu | Not classified | Not validated |
| | 2008-03-28 | | intron 7 | c.1168+44T>C | - | Not classified | Not validated |
| | 2013-09-12 | | exon 9 | c.1312_1313delCT | p.Ser439Trpfs*15 | Not classified | Not validated |
| | 2013-02-16 | | intron 9 | c.1456+29A>G | - | Not classified | Not validated |
| | 2013-08-27 | | exon 10 | c.1510C>T | p.Leu504Phe | Not classified | Not validated |
| | 2008-03-28 | | exon 14 | c.1801G>A | p.Glu601Lys | Not classified | Not validated |
| | 2008-03-28 | | exon 14 | c.1876C>T | p.Pro626Ser | Not classified | Not validated |
| | 2011-01-04 | | intron 16 | c.2174+74A>T | - | Not classified | Not validated |
| | 2013-09-12 | | exon 17 | c.2201C>T | p.Ser734Leu | Not classified | Not validated |
| | 2005-07-01 | | exon 17 | c.2223C>T | p.(=) | Not classified | Not validated |
| | 2009-08-04 | | intron 17 | c.2327+1G>C | p.Arg776Serfs*66 | Not classified | Not validated |
| | 2007-05-15 | | intron 19 | c.2546+51T>A | - | Not classified | Not validated |
| | 2013-09-12 | | 3UT | c.*3C>T | - | Not classified | Not validated |
| | 2011-09-01 |
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