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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 3 | c.147del | p.(Phe50Leufs*26) | 408delC | Not classified | To be validated |
| | 2011-09-01 | 2013-02-05 | | exon 3 | c.239G>A | p.(Arg80Gln) | R80Q | Uncertain significance (VUS) | To be validated |
| | 2019-07-16 | 2019-08-21 | | exon 4 | c.320C>T | p.(Thr107Met) | T107M | Not classified | To be validated |
| | 2010-04-14 | 2022-01-21 | | exon 6 | c.464C>T | p.(Ala155Val) | A155V | Not classified | To be validated |
| | 2014-01-19 | | | exon 8 | c.937G>A | p.(Gly313Arg) | G313R | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-28 | | exon 9 | c.1243C>T | p.(Arg415* ) | c.1243C>T | Not classified | To be validated |
| | 2014-10-21 | 2014-10-22 | | exon 9 | c.1244G>C | p.(Arg415Pro) | R415P | Not classified | To be validated |
| | 2010-04-12 | 2010-04-13 | | exon 9 | c.1244G>A | p.(Arg415Gln) | R415Q | Not classified | To be validated |
| | 2010-04-12 | 2010-04-13 | | exon 9 | c.1252C>A | p.(Pro418Thr) | P418T | Not classified | To be validated |
| | 2010-04-12 | 2010-04-13 | | exon 9 | c.1253C>A | p.(Pro418His ) | P418H | Not classified | To be validated |
| | 2010-04-12 | 2010-04-13 | | exon 9 | c.1253_1254delinsAT | p.(Pro418His) | P418Ha | Not classified | To be validated |
| | 2014-01-02 | 2019-03-11 | | exon 9 | c.1253C>T | p.(Pro418Leu) | P418L | Not classified | To be validated |
| | 2010-04-12 | 2010-04-13 | | exon 9 | c.1253C>G | p.(Pro418Arg ) | P418R | Not classified | To be validated |
| | 2011-02-28 | 2011-03-21 | | exon 9 | c.1255G>A | p.(Asp419Asn) | D419N | Not classified | To be validated |
| | 2010-04-14 | | | exon 9 | c.1255G>T | p.(Asp419Tyr) | D419Y | Not classified | To be validated |
| | 2013-06-05 | | | exon 9 | c.1256A>G | p.(Asp419Gly) | D419G | Not classified | To be validated |
| | 2010-04-12 | 2011-03-21 | | exon 9 | c.1258G>A | p.(Gly420Arg) | G420R G>A | Not classified | To be validated |
| | 2010-04-13 | | | exon 9 | c.1258G>C | p.(Gly420Arg) | G420R_G>C | Not classified | To be validated |
| | 2010-04-12 | 2022-01-19 | | exon 9 | c.1259G>A | p.(Gly420Glu) | G420E | Not classified | To be validated |
| | 2010-04-12 | 2010-04-13 | | exon 11 | c.1442A>T | p.(Gln481Leu) | Q481L | Not classified | To be validated |
| | 2010-04-14 | 2022-01-21 | | exon 13 | c.1624G>A | p.(Val542Met) | V542M | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | | | exon 13 | c.1634G>A | p.(Ser545Asn) | S545N | Uncertain significance (VUS) | To be validated |
| | 2019-05-13 | 2019-05-28 | | exon 13 | c.1654C>T | p.(Arg552Trp) | R552W | Likely pathogenic | To be validated |
| | 2019-05-13 | 2019-05-28 |
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