| 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.853329G>A | CA402916032 | ELANE | c.292G>A (p.Val98Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.853329G>C | CA402916035 | ELANE | c.292G>C (p.Val98Leu) | |
| 19 | g.853329G= | CA2317360159 | ELANE | c.292G= (p.Val98=) | |
| 19 | g.853329G>T | CA084207 | ELANE | c.292G>T (p.Val98Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[853329G>T;853338G>T] | CA084432 | ELANE | c.[292G>T;301G>T] (p.[Val98Leu;Val101Leu]) | ClinVar |
| 19 | g.853331_853332dup | CA2587805076 | ELANE | c.294_295dup (p.Phe99CysfsTer15) | gnomAD v4 |
| 19 | g.853329_853338delinsTTGTTCGCCT | CA2695227789 | ELANE | c.292_301delinsTTGTTCGCCT (p.Val98_Val101delinsLeuPheAlaLeu) | |
| 19 | g.853330T>A | CA402916038 | ELANE | c.293T>A (p.Val98Glu) | |
| 19 | g.853330T>C | CA402916043 | ELANE | c.293T>C (p.Val98Ala) | |
| 19 | g.853330T>G | CA402916041 | ELANE | c.293T>G (p.Val98Gly) | ClinVar dbSNP |
| 19 | g.853331G>A | CA504684962 | ELANE | c.294G>A (p.Val98=) | dbSNP |
| 19 | g.853331G>C | CA504684963 | ELANE | c.294G>C (p.Val98=) | |
| 19 | g.853331G= | CA2317360160 | ELANE | c.294G= (p.Val98=) | |
| 19 | g.853331G>T | CA504684964 | ELANE | c.294G>T (p.Val98=) | |
| 19 | g.853332T>A | CA402916047 | ELANE | c.295T>A (p.Phe99Ile) | |
| 19 | g.853332T>C | CA402916051 | ELANE | c.295T>C (p.Phe99Leu) | ClinVar |
| 19 | g.853332T>G | CA402916053 | ELANE | c.295T>G (p.Phe99Val) | |
| 19 | g.853332_853337dup | CA2695227790 | ELANE | c.295_300dup (p.Ala100_Val101insPheAla) | |
| 19 | g.853333T>A | CA402916056 | ELANE | c.296T>A (p.Phe99Tyr) | |
| 19 | g.853333T>C | CA16622124 | ELANE | c.296T>C (p.Phe99Ser) | |
| 19 | g.853333T>G | CA402916061 | ELANE | c.296T>G (p.Phe99Cys) | |
| 19 | g.853334C>A | CA402916064 | ELANE | c.297C>A (p.Phe99Leu) | |
| 19 | g.853334C= | CA2317360161 | ELANE | c.297C= (p.Phe99=) | |
| 19 | g.853334C>G | CA9025995 | ELANE | c.297C>G (p.Phe99Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.853334C>T | CA504684966 | ELANE | c.297C>T (p.Phe99=) | |
| 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=) |