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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 2 | c.11T>A | p.(Val4Asp) | V4D | Uncertain significance (VOUS) | To be validated |
| | 2019-05-13 | | exon 2 | c.38C>A | p.(Ser13*) | S13* | Not classified | To be validated |
| | 2019-05-13 | | exon 2 | c.42del | p.(Ser15Profs*86) | S15Pfs*86 | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 2 | c.138delC | p.(Glu47Argfs*54) | E47Rfs*54 | Likely pathogenic | To be validated |
| | 2019-05-13 | | exon 2 | c.243del | p.(Lys81Asnfs*20) | K81Nfs | Pathogenic | To be validated |
| | 2019-01-22 | | intron 2 | c.300+1G>C | p.(Asn101Leufs*34) | N101LfsX34 | Not classified | To be validated |
| | 2014-07-24 | | intron 2 | c.300+1G>A | p.? | c.300+1G>A | Likely pathogenic | To be validated |
| | 2019-01-22 | | intron 2 | c.300+2T>G | p.? | c.300+2T>G | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 3 | c.303_319dup | p.(Leu107Profs*39) | c.302_303insCTACTTTGAGAGCTACC | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 3 | c.308_309del | p.(Phe103*) | F103X | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 3 | c.325G>A | p.(Val109Ile) | V109I | Not classified | To be validated |
| | 2019-05-13 | | exon 3 | c.347T>G | p.(Met116Arg) | M116R | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 4 | c.400C>T | p.(Arg134Cys) | R133C | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 4 | c.401G>A | p.(Arg134His) | R134H | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 4 | c.538A>G | p.(Thr180Ala) | T180A | Not classified | To be validated |
| | 2019-05-13 | | exon 4 | c.607T>C | p.(Ser203Pro) | S203P | Likely pathogenic | To be validated |
| | 2019-01-22 | | intron 4 | c.610+1G>C | p.? | c.610+1G>C | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 5 | c.625G>A | p.(Gly209Arg) | c.625G>A | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 5 | c.674A>G | p.(Asp225Gly) | D225G | Uncertain significance (VOUS) | To be validated |
| | 2019-05-13 | | exon 5 | c.688G>A | p.(Ala230Thr) | A230T | Not classified | To be validated |
| | 2019-05-13 | | exon 5 | c.707C>T | p.(Thr236Met) | T236M | Uncertain significance (VOUS) | To be validated |
| | 2019-05-13 | | exon 5 | c.708G>A | p.(Thr236=) | T236T | Not classified | To be validated |
| | 2019-05-13 | | intron 5 | c.774-2A>G | p.? | c.774-2A>G | Likely pathogenic | To be validated |
| | 2019-01-21 | | exon 6 | c.933T>A | p.(Cys311*) | C310X | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.940del | p.(Tyr314Thrfs*91) | Y314Tfs | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.946T>G | p.(Phe316Val) | F316V | Not classified | To be validated |
| | 2015-12-04 | | exon 6 | c.971C>T | p.(Pro324Leu) | P324L | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.1045del | p.(Leu349Serfs*56) | c.1045delC | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.1087C>T | p.(Arg363Trp) | c.1087C>T | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.1088G>A | p.(Arg363Gln) | R363Q | Not classified | To be validated |
| | 2014-07-24 | | exon 6 | c.1157G>A | p.(Arg386Gln) | R386Q | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.1172C>A | p.(Pro391His) | c.1172C>A | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.1269_1270delinsT | p.(Leu424Serfs*29) | c. 1269_1270delinsA | Not classified | To be validated |
| | 2015-05-16 | | exon 6 | c.1269_1270delinsA | p.(Leu424Serfs*29) | c.1269_1270delinsA | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.1279G>A | p.(Gly427Ser) | G427S | Pathogenic | To be validated |
| | 2019-01-21 | | exon 6 | c.1309G>A | p.(Gly437Arg) | G437R | Pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.1330G>T | p.(Glu444*) | E444X | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.1339G>A | p.(Glu447Lys) | c.1339G>A | Likely pathogenic | To be validated |
| | 2019-01-22 | | exon 6 | c.1346C>G | p.(Thr449Arg) | T449R | Likely pathogenic | To be validated |
| | 2019-01-22 |
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