*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.
** If you have new data: please send us a re-evaluation proposal here
|
HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
|
5UT | c.-173A>T | p.? | c.-173A>T | Not classified | To be validated |
| | 2013-08-27 | intron 3 | c.288+63G>A | p.? | c.288+63G>A | Not classified | To be validated |
| | 2013-09-12 | exon 4 | c.540_541del | p.(Cys181*) | T180fs | Not classified | To be validated |
| | 2005-07-01 | exon 7 | c.991G>T | p.(Ala331Ser) | A331S | Not classified | To be validated |
| | 2008-03-28 | exon 7 | c.1043C>T | p.(Pro348Leu) | P348L | Not classified | To be validated |
| | 2008-03-28 | exon 7 | c.1159A>G | p.(Lys387Glu) | K387E | Not classified | To be validated |
| | 2008-03-28 | intron 7 | c.1168+44T>C | p.? | c.1168+44T>C | Not classified | To be validated |
| | 2013-09-12 | exon 9 | c.1312_1313delCT | p.(Ser439Trpfs*15) | p.Ser439Trpfs*15 | Not classified | To be validated |
| | 2013-02-16 | intron 9 | c.1456+29A>G | p.? | c.1456+29A>G | Not classified | To be validated |
| | 2013-08-27 | exon 10 | c.1510C>T | p.(Leu504Phe) | L504F | Not classified | To be validated |
| | 2008-03-28 | exon 14 | c.1801G>A | p.(Glu601Lys) | E601K | Not classified | To be validated |
| | 2008-03-28 | exon 14 | c.1876C>T | p.(Pro626Ser) | P626S | Not classified | To be validated |
| | 2011-01-04 | intron 16 | c.2174+74A>T | p.? | c.2174+74A>T | Not classified | To be validated |
| | 2013-09-12 | exon 17 | c.2201C>T | p.(Ser734Leu) | S734L | Not classified | To be validated |
| | 2005-07-01 | exon 17 | c.2223C>T | p.(Ala741=) | A741A | Not classified | To be validated |
| | 2009-08-04 | intron 17 | c.2327+1G>C | p.? | Arg776SerfsX66 | Not classified | To be validated |
| | 2007-05-15 | intron 19 | c.2546+51T>A | p.? | c.2546+51T>A | Not classified | To be validated |
| | 2013-09-12 | 3UT | c.*3C>T | p.? | c.*3C>T | Not classified | To be validated |
| | 2011-09-01 |
|