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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 |
|
c.-173A>T | 5UT | c.-173A>T | - | Not classified | To be validated |
| | 2013-08-27 | c.288+63G>A | intron 3 | c.288+63G>A | - | Not classified | To be validated |
| | 2013-09-12 | T180fs | exon 4 | c.540_541del | p.(Cys181*) | Not classified | To be validated |
| | 2005-07-01 | A331S | exon 7 | c.991G>T | p.(Ala331Ser) | Not classified | To be validated |
| | 2008-03-28 | P348L | exon 7 | c.1043C>T | p.(Pro348Leu) | Not classified | To be validated |
| | 2008-03-28 | K387E | exon 7 | c.1159A>G | p.(Lys387Glu) | Not classified | To be validated |
| | 2008-03-28 | c.1168+44T>C | intron 7 | c.1168+44T>C | - | Not classified | To be validated |
| | 2013-09-12 | p.Ser439Trpfs*15 | exon 9 | c.1312_1313delCT | p.(Ser439Trpfs*15) | Not classified | To be validated |
| | 2013-02-16 | c.1456+29A>G | intron 9 | c.1456+29A>G | - | Not classified | To be validated |
| | 2013-08-27 | L504F | exon 10 | c.1510C>T | p.(Leu504Phe) | Not classified | To be validated |
| | 2008-03-28 | E601K | exon 14 | c.1801G>A | p.(Glu601Lys) | Not classified | To be validated |
| | 2008-03-28 | P626S | exon 14 | c.1876C>T | p.(Pro626Ser) | Not classified | To be validated |
| | 2011-01-04 | c.2174+74A>T | intron 16 | c.2174+74A>T | - | Not classified | To be validated |
| | 2013-09-12 | S734L | exon 17 | c.2201C>T | p.(Ser734Leu) | Not classified | To be validated |
| | 2005-07-01 | A741A | exon 17 | c.2223C>T | p.(=) | Not classified | To be validated |
| | 2009-08-04 | R776S | intron 17 | c.2327+1G>C | p.(Arg776Serfs*66) | Not classified | To be validated |
| | 2007-05-15 | c.2546+51T>A | intron 19 | c.2546+51T>A | - | Not classified | To be validated |
| | 2013-09-12 | c.*3C>T | 3UT | c.*3C>T | - | Not classified | To be validated |
| | 2011-09-01 |
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