| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.853329_853343del | CA2695227788 | ELANE | c.292_306del (p.Val98_Gln102del) | |
| 19 | g.853326_853337dup | CA2580096961 | ELANE | c.289_300dup (p.Ala100_Val101insGlnValPheAla) | ClinVar dbSNP |
| 19 | g.853329_853338delinsTTGTTCGCCT | CA2695227789 | ELANE | c.292_301delinsTTGTTCGCCT (p.Val98_Val101delinsLeuPheAlaLeu) | |
| 19 | g.853332_853337dup | CA2695227790 | ELANE | c.295_300dup (p.Ala100_Val101insPheAla) | |
| 19 | g.853335G>A | CA402916069 | ELANE | c.298G>A (p.Ala100Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.853335G>C | CA402916071 | ELANE | c.298G>C (p.Ala100Pro) | |
| 19 | g.853335G= | CA2317360162 | ELANE | c.298G= (p.Ala100=) | |
| 19 | g.853335G>T | CA303943280 | ELANE | c.298G>T (p.Ala100Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.853336C>A | CA402916081 | ELANE | c.299C>A (p.Ala100Asp) | |
| 19 | g.853336C>G | CA402916077 | ELANE | c.299C>G (p.Ala100Gly) | |
| 19 | g.853336C>T | CA402916079 | ELANE | c.299C>T (p.Ala100Val) | |
| 19 | g.853337dup | CA2573155741 | ELANE | c.300dup (p.Val101ArgfsTer?) | ClinVar dbSNP |
| 19 | g.853337C>A | CA504684967 | ELANE | c.300C>A (p.Ala100=) | COSMIC |
| 19 | g.853337C= | CA2317360163 | ELANE | c.300C= (p.Ala100=) | |
| 19 | g.853337C>G | CA504684968 | ELANE | c.300C>G (p.Ala100=) | gnomAD v4 |
| 19 | g.853337C>T | CA303943292 | ELANE | c.300C>T (p.Ala100=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.853338G>A | CA303943293 | ELANE | c.301G>A (p.Val101Met) | ClinVar dbSNP gnomAD v4 |
| 19 | g.853338G>C | CA402916088 | ELANE | c.301G>C (p.Val101Leu) | COSMIC |
| 19 | g.853338G= | CA2317360164 | ELANE | c.301G= (p.Val101=) | |
| 19 | g.853338G>T | CA084287 | ELANE | c.301G>T (p.Val101Leu) | dbSNP gnomAD v4 |
| 19 | g.853339T>A | CA402916092 | ELANE | c.302T>A (p.Val101Glu) | |
| 19 | g.853339T>C | CA402916095 | ELANE | c.302T>C (p.Val101Ala) | |
| 19 | g.853339T>G | CA402916099 | ELANE | c.302T>G (p.Val101Gly) | |
| 19 | g.853340G>A | CA504684970 | ELANE | c.303G>A (p.Val101=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.853340G>C | CA504684971 | ELANE | c.303G>C (p.Val101=) | |
| 19 | g.853340G= | CA2317360165 | ELANE | c.303G= (p.Val101=) | |
| 19 | g.853340G>T | CA504684972 | ELANE | c.303G>T (p.Val101=) | |
| 19 | g.853341C>A | CA402916101 | ELANE | c.304C>A (p.Gln102Lys) | dbSNP gnomAD v4 |
| 19 | g.853341C= | CA2317360166 | ELANE | c.304C= (p.Gln102=) | |
| 19 | g.853341C>G | CA9025996 | ELANE | c.304C>G (p.Gln102Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.853341C>T | CA402916104 | ELANE | c.304C>T (p.Gln102Ter) | |
| 19 | g.853342A= | CA2317360167 | ELANE | c.305A= (p.Gln102=) | |
| 19 | g.853342A>C | CA402916111 | ELANE | c.305A>C (p.Gln102Pro) | ClinVar dbSNP |
| 19 | g.853342A>G | CA303943298 | ELANE | c.305A>G (p.Gln102Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.853342A>T | CA402916107 | ELANE | c.305A>T (p.Gln102Leu) | |
| 19 | g.853343G>A | CA504684973 | ELANE | c.306G>A (p.Gln102=) | |
| 19 | g.853343G>C | CA402916114 | ELANE | c.306G>C (p.Gln102His) | gnomAD v4 |
| 19 | g.853343G>T | CA402916117 | ELANE | c.306G>T (p.Gln102His) | gnomAD v4 |
| 19 | g.853344C>A | CA9025997 | ELANE | c.307C>A (p.Arg103Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.853344C= | CA2317360168 | ELANE | c.307C= (p.Arg103=) | |
| 19 | g.853344C>G | CA402916118 | ELANE | c.307C>G (p.Arg103Gly) | |
| 19 | g.853344C>T | CA402916119 | ELANE | c.307C>T (p.Arg103Cys) | |
| 19 | g.853345G>A | CA9025998 | ELANE | c.308G>A (p.Arg103His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.853345G>C | CA402916128 | ELANE | c.308G>C (p.Arg103Pro) | ClinVar dbSNP |
| 19 | g.853345G= | CA2317360169 | ELANE | c.308G= (p.Arg103=) | |
| 19 | g.853345G>T | CA16620913 | ELANE | c.308G>T (p.Arg103Leu) | ClinVar dbSNP |
| 19 | g.853346C>A | CA504684976 | ELANE | c.309C>A (p.Arg103=) | |
| 19 | g.853346C>G | CA504684977 | ELANE | c.309C>G (p.Arg103=) | |
| 19 | g.853346C>T | CA504684975 | ELANE | c.309C>T (p.Arg103=) | |
| 19 | g.853347A>C | CA402916132 | ELANE | c.310A>C (p.Ile104Leu) |