|
*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 3 | c.166G>A | p.(Gly56Ser) | p.G56S | Likely benign | To be validated |
| | 2024-01-17 | | | exon 7 | c.596A>G | p.(His199Arg) | p.H199R | Pathogenic | To be validated |
| | 2022-06-27 | 2024-01-12 | | exon 8 | c.632C>T | p.(Ala211Val) | p.A211V | Likely benign | To be validated |
| | 2024-01-17 | | | exon 8 | c.679C>T | p.(Arg227Cys) | p.R227C | Likely pathogenic | To be validated |
| | 2024-01-17 | | | exon 8 | c.690G>T | p.(Lys230Asn) | p.K230N | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-16 | | exon 8 | c.698G>A | p.(Arg233His) | p.R233H | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 8 | c.698G>T | p.(Arg233Leu) | p.R233L | Likely pathogenic | To be validated |
| | 2024-01-17 | | | exon 9 | c.712A>G | p.(Lys238Glu) | p.K238E | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.715G>C | p.(Ala239Pro) | p.A239P | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.718T>C | p.(Trp240Arg) | p.W240R | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.719G>T | p.(Trp240Leu) | p.W240L | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.719G>C | p.(Trp240Ser) | p.W240S | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.721G>A | p.(Glu241Lys) | p.E241K | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.722A>C | p.(Glu241Ala) | p.E241A | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.723G>C | p.(Glu241Asp) | E241D | Likely pathogenic | To be validated |
| | 2024-11-21 | | | exon 9 | c.725T>G | p.(Val242Gly) | p.V242G | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.727G>A | p.(Asp243Asn) | p.D243N | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.728A>G | p.(Asp243Gly) | p.D243G | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 9 | c.788T>C | p.(Leu263Ser) | L263S | Uncertain significance (VUS) | To be validated |
| | 2024-02-14 | | | exon 9 | c.841C>T | p.(Arg281Trp) | p.R281W | Likely pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 10 | c.855G>C | p.(Gln285His) | p.Q285H | Pathogenic | To be validated |
| | 2022-03-16 | 2022-03-19 | | exon 11 | c.1016G>A | p.(Arg339Gln) | p.R339Q | Benign | To be validated |
| | 2024-01-17 | | | exon 12 | c.1109A>C | p.(Tyr370Ser) | p.Y370S | Benign | To be validated |
| | 2024-01-17 | | | exon 14 | c.1222C>T | p.(Pro408Ser) | p.P408S | Likely benign | To be validated |
| | 2024-01-17 | | | exon 17 | c.1555G>T | p.(Asp519Tyr) | p.D519Y | Likely benign | To be validated |
| | 2024-01-17 | | | exon 20 | c.2090C>T | p.(Thr697Ile) | T697I | Uncertain significance (VUS) | To be validated |
| | 2024-04-23 | | | exon 23 | c.2420A>C | p.(Asn807Thr) | p.Asn807Thr | Likely benign | To be validated |
| | 2024-01-17 | | | exon 24 | c.2483G>A | p.(Gly828Glu) | p.G828E | Benign | To be validated |
| | 2024-01-17 | | | exon 24 | c.2531G>A | p.(Gly844Asp) | G844D | Likely benign | To be validated |
| | 2024-04-23 | 2024-04-23 | | exon 29 | c.3038G>C | p.(Cys1013Ser) | p.C1013S | Likely pathogenic | To be validated |
| | 2024-02-13 | | | exon 30 | c.3172C>T | p.(Arg1058Cys) | p.R1058C | Likely pathogenic | To be validated |
| | 2024-02-13 | | | exon 32 | c.3424C>T | p.(Arg1142Ter) | p.R1142X | Likely pathogenic | To be validated |
| | 2024-02-13 | |
|
