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*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
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HGVS sequence name |
HGVS protein name |
Usual name* |
Classification** |
Status** |
Simple variant |
Complex alleles |
|
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| exon 1 | c.160G>A | p.(Ala54Thr) | A54T | Likely pathogenic | To be validated |
| | 2019-11-08 | 2022-06-02 | | exon 1 | c.197C>T | p.(Ala66Val) | A66V | Likely pathogenic | To be validated |
| | 2019-11-08 | 2022-06-02 | | exon 5 | c.2359_2529del | p.(Phe787_Arg843del) | F787_R843del | Likely pathogenic | To be validated |
| | 2019-11-08 | 2022-06-02 | | exon 1 | c.230T>C | p.(Met77Thr) | M77T | Likely pathogenic | To be validated |
| | 2018-10-01 | 2022-06-02 | | exon 13 | c.3641C>T | p.(Pro1214Leu) | P1214L | Likely pathogenic | To be validated |
| | 2021-05-27 | 2022-06-02 | | exon 13 | c.3641C>G | p.(Pro1214Arg) | P1214R | Pathogenic | To be validated |
| | 2018-10-01 | 2022-06-02 | | exon 4 | c.2176C>T | p.(Arg726Trp) | R726W | Likely pathogenic | To be validated |
| | 2018-10-01 | 2022-06-02 | | exon 1 | c.175G>C | p.(Ala59Pro) | A59P | Likely pathogenic | To be validated |
| | 2020-01-28 | | | exon 1 | c.70T>C | p.(Phe24Leu) | F24L | Likely pathogenic | To be validated |
| | 2023-08-24 | | | exon 5 | c.2438T>C | p.(Leu813Pro) | L813P | Likely pathogenic | To be validated |
| | 2023-02-14 | | | exon 4 | c.2264C>A | p.(Thr755Asn) | T755N | Not classified | To be validated |
| | 2019-11-08 | |
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