|
*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.
Usual name* |
|
HGVS sequence name |
HGVS protein name |
Simple variant |
Complex alleles |
|
| T180fs | exon 4 | c.540_541del | p.Cys181* |
| | 2005-07-01 | | A331S | exon 7 | c.991G>T | p.Ala331Ser |
| | 2008-03-28 | | P348L | exon 7 | c.1043C>T | p.Pro348Leu |
| | 2008-03-28 | | K387E | exon 7 | c.1159A>G | p.Lys387Glu |
| | 2008-03-28 | | p.Ser439Trpfs*15 | exon 9 | c.1312_1313delCT | p.Ser439Trpfs*15 |
| | 2013-02-16 | | L504F | exon 10 | c.1510C>T | p.Leu504Phe |
| | 2008-03-28 | | E601K | exon 14 | c.1801G>A | p.Glu601Lys |
| | 2008-03-28 | | P626S | exon 14 | c.1876C>T | p.Pro626Ser |
| | 2011-01-04 | | S734L | exon 17 | c.2201C>T | p.Ser734Leu |
| | 2005-07-01 | | A741A | exon 17 | c.2223C>T | p.Ala741Ala |
| | 2009-08-04 | | R776S | intron 17 | c.2327+1G>C | p.Arg776Serfs*66 |
| | 2007-05-15 | | c.*3C>T | 3UT | c.*3C>T | - |
| | 2011-09-01 |
|
