|
*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 |
|
|
| exon 2 | c.145_147dup | p.(Glu49dup) | E49dup | Pathogenic | To be validated |
| | 2025-08-11 | | | exon 2 | c.148C>A | p.(Arg50Ser) | R50S | Likely benign | To be validated |
| | 2025-08-11 | | | exon 2 | c.193C>G | p.(Leu65Val) | L65V | Likely benign | To be validated |
| | 2025-08-11 | | | exon 3 | c.275A>G | p.(Glu92Gly) | E92G | Pathogenic | To be validated |
| | 2025-08-11 | | | exon 3 | c.278C>T | p.(Thr93Ile) | T93I | Pathogenic | To be validated |
| | 2025-08-11 | | | exon 3 | c.349G>T | p.(Val117Leu) | V117L | Pathogenic | To be validated |
| | 2025-08-11 | | | exon 3 | c.385C>A | p.(Leu129Ile) | L129I | Likely benign | To be validated |
| | 2025-08-11 | | | exon 4 | c.470G>A | p.(Arg157His) | R157H | Likely benign | To be validated |
| | 2025-08-11 | | | exon 4 | c.491C>T | p.(Ser164Leu) | S164L | Likely benign | To be validated |
| | 2025-08-11 | | | exon 5 | c.626C>T | p.(Pro209Leu) | P209L | Likely benign | To be validated |
| | 2025-08-11 | | | exon 7 | c.891C>G | p.(Phe297Leu) | F297L | Likely benign | To be validated |
| | 2025-08-11 | | | exon 7 | c.895G>T | p.(Ala299Ser) | A299S | Likely benign | To be validated |
| | 2025-08-11 | | | exon 8 | c.940A>G | p.(Thr314Ala) | T314A | Pathogenic | To be validated |
| | 2025-08-11 | | | exon 8 | c.951C>G | p.Ile317Met | I317M | Pathogenic | To be validated |
| | 2025-08-01 | | | exon 8 | c.973G>T | p.Gly325Cys | G325C | Pathogenic | To be validated |
| | 2025-08-01 | | | exon 8 | c.989T>G | p.Leu330Arg | L330R | Pathogenic | To be validated |
| | 2025-08-01 | | | exon 8 | c.1006C>T | p.(Arg336Cys) | R336C | Pathogenic | To be validated |
| | 2025-08-11 | | | exon 8 | c.1007G>T | p.(Arg336Leu) | R336L | Pathogenic | To be validated |
| | 2025-08-11 | | | exon 9 | c.1138G>A | p.(Val380Met) | V380M | Likely benign | To be validated |
| | 2025-08-11 | | | exon 9 | c.1163C>T | p.(Ala388Val) | A388V | Likely benign | To be validated |
| | 2025-08-11 | | | exon 9 | c.1210C>T | p.(Pro404Ser) | P404S | Likely benign | To be validated |
| | 2025-08-11 | | | exon 10 | c.1398A>C | p.Arg466Ser | R466S | Pathogenic | To be validated |
| | 2025-08-01 | | | exon 10 | c.1453G>A | p.(Val485Met) | V485M | Likely benign | To be validated |
| | 2025-08-11 | | | exon 11 | c.1574_1575delinsCT | p.Arg525Pro | R525P | Pathogenic | To be validated |
| | 2025-08-01 | | | exon 11 | c.1594C>A | p.(Pro532Thr) | P532T | Likely benign | To be validated |
| | 2025-08-11 | | | exon 11 | c.1661G>A | p.(Gly554Asp) | G554D | Likely benign | To be validated |
| | 2025-08-11 | | | exon 11 | c.1720G>C | p.(Glu574Gln) | E574Q | Likely benign | To be validated |
| | 2025-08-11 | | | exon 11 | c.1724C>A | p.(Pro575His) | P575H | Likely benign | To be validated |
| | 2025-08-11 | | | exon 11 | c.1768G>A | p.(Gly590Arg) | G590R | Likely benign | To be validated |
| | 2025-08-11 | | | exon 11 | c.1768G>T | p.(Gly590Trp) | G590W | Likely benign | To be validated |
| | 2025-08-11 | | | exon 11 | c.1772G>A | p.(Gly591Glu) | G591E | Likely benign | To be validated |
| | 2025-08-11 | | | exon 11 | c.1777G>A | p.(Gly593Arg) | G593R | Likely benign | To be validated |
| | 2025-08-11 | |
|
