19 | g.853323C>A | CA504684957 | ELANE | c.286C>A (p.Arg96=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853323C= | CA2317360155 | ELANE | c.286C= (p.Arg96=)
| |
19 | g.853323C>G | CA402916001 | ELANE | c.286C>G (p.Arg96Gly)
| |
19 | g.853323C>T | CA9025994 | ELANE | c.286C>T (p.Arg96Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853324G>A | CA402916007 | ELANE | c.287G>A (p.Arg96Gln)
| gnomAD v4 |
19 | g.853324G>C | CA402916008 | ELANE | c.287G>C (p.Arg96Pro)
| ClinVar gnomAD v4 |
19 | g.853324G= | CA2317360156 | ELANE | c.287G= (p.Arg96=)
| |
19 | g.853324G>T | CA303943271 | ELANE | c.287G>T (p.Arg96Leu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.853325G>A | CA504684958 | ELANE | c.288G>A (p.Arg96=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853325G>C | CA504684960 | ELANE | c.288G>C (p.Arg96=)
| |
19 | g.853325G= | CA2317360157 | ELANE | c.288G= (p.Arg96=)
| |
19 | g.853325G>T | CA504684959 | ELANE | c.288G>T (p.Arg96=)
| gnomAD v4 |
19 | g.853329_853343del | CA2695227788 | ELANE | c.292_306del (p.Val98_Gln102del)
| |
19 | g.853326C>A | CA402916015 | ELANE | c.289C>A (p.Gln97Lys)
| |
19 | g.853326C>G | CA402916012 | ELANE | c.289C>G (p.Gln97Glu)
| |
19 | g.853326C>T | CA402916011 | ELANE | c.289C>T (p.Gln97Ter)
| |
19 | g.853326_853337dup | CA2580096961 | ELANE | c.289_300dup (p.Ala100_Val101insGlnValPheAla)
| ClinVar dbSNP |
19 | g.853327A= | CA2317360158 | ELANE | c.290A= (p.Gln97=)
| |
19 | g.853327A>C | CA402916021 | ELANE | c.290A>C (p.Gln97Pro)
| ClinVar dbSNP COSMIC |
19 | g.853327A>G | CA402916018 | ELANE | c.290A>G (p.Gln97Arg)
| |
19 | g.853327A>T | CA402916023 | ELANE | c.290A>T (p.Gln97Leu)
| |
19 | g.853328G>A | CA504684961 | ELANE | c.291G>A (p.Gln97=)
| |
19 | g.853328G>C | CA402916025 | ELANE | c.291G>C (p.Gln97His)
| |
19 | g.853328G>T | CA402916027 | ELANE | c.291G>T (p.Gln97His)
| |
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])
| |
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=)
| |
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)
| |
19 | g.853347A>G | CA402916134 | ELANE | c.310A>G (p.Ile104Val)
| |
19 | g.853347A>T | CA402916136 | ELANE | c.310A>T (p.Ile104Phe)
| |
19 | g.853348T>A | CA402916145 | ELANE | c.311T>A (p.Ile104Asn)
| |
19 | g.853348T>C | CA402916143 | ELANE | c.311T>C (p.Ile104Thr)
| |
19 | g.853348T>G | CA402916140 | ELANE | c.311T>G (p.Ile104Ser)
| |
19 | g.853349C>A | CA504684980 | ELANE | c.312C>A (p.Ile104=)
| |
19 | g.853349C>G | CA402916147 | ELANE | c.312C>G (p.Ile104Met)
| gnomAD v4 |
19 | g.853349C>T | CA504684979 | ELANE | c.312C>T (p.Ile104=)
| |
19 | g.853350T>A | CA402916149 | ELANE | c.313T>A (p.Phe105Ile)
| |
19 | g.853350T>C | CA402916152 | ELANE | c.313T>C (p.Phe105Leu)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853350T>G | CA402916155 | ELANE | c.313T>G (p.Phe105Val)
| |
19 | g.853350T= | CA2317360170 | ELANE | c.313T= (p.Phe105=)
| |
19 | g.853351T>A | CA402916157 | ELANE | c.314T>A (p.Phe105Tyr)
| |
19 | g.853351T>C | CA402916160 | ELANE | c.314T>C (p.Phe105Ser)
| |
19 | g.853351T>G | CA402916161 | ELANE | c.314T>G (p.Phe105Cys)
| |
19 | g.853352C>A | CA402916164 | ELANE | c.315C>A (p.Phe105Leu)
| |
19 | g.853352C= | CA2317360171 | ELANE | c.315C= (p.Phe105=)
| |
19 | g.853352C>G | CA402916166 | ELANE | c.315C>G (p.Phe105Leu)
| ClinVar dbSNP gnomAD v4 |
19 | g.853352C>T | CA504684981 | ELANE | c.315C>T (p.Phe105=)
| ClinVar gnomAD v4 |
19 | g.853353G>A | CA402916170 | ELANE | c.316G>A (p.Glu106Lys)
| gnomAD v4 |
19 | g.853353G>C | CA402916173 | ELANE | c.316G>C (p.Glu106Gln)
| |
19 | g.853353G>T | CA402916175 | ELANE | c.316G>T (p.Glu106Ter)
| |
19 | g.853354A>C | CA402916181 | ELANE | c.317A>C (p.Glu106Ala)
| ClinVar |
19 | g.853354A>G | CA402916183 | ELANE | c.317A>G (p.Glu106Gly)
| dbSNP |
19 | g.853354A>T | CA402916178 | ELANE | c.317A>T (p.Glu106Val)
| |
19 | g.853355A>C | CA402916189 | ELANE | c.318A>C (p.Glu106Asp)
| |
19 | g.853355A>G | CA504684982 | ELANE | c.318A>G (p.Glu106=)
| gnomAD v4 |
19 | g.853355A>T | CA402916188 | ELANE | c.318A>T (p.Glu106Asp)
| |
19 | g.853356A>C | CA402916194 | ELANE | c.319A>C (p.Asn107His)
| |
19 | g.853356A>G | CA402916196 | ELANE | c.319A>G (p.Asn107Asp)
| ClinVar |
19 | g.853356A>T | CA402916198 | ELANE | c.319A>T (p.Asn107Tyr)
| |
19 | g.853357A>C | CA402916201 | ELANE | c.320A>C (p.Asn107Thr)
| |
19 | g.853357A>G | CA402916204 | ELANE | c.320A>G (p.Asn107Ser)
| |
19 | g.853357A>T | CA402916206 | ELANE | c.320A>T (p.Asn107Ile)
| |
19 | g.853359_853367del | CA2587805077 | ELANE | c.322_330del (p.Gly108_Asp110del)
| gnomAD v4 |
19 | g.853358del | CA2587805078 | ELANE | c.321del (p.Asn107LysfsTer6)
| gnomAD v4 |
19 | g.853358C>A | CA402916210 | ELANE | c.321C>A (p.Asn107Lys)
| dbSNP gnomAD v4 |
19 | g.853358C= | CA2317360172 | ELANE | c.321C= (p.Asn107=)
| |
19 | g.853358C>G | CA402916213 | ELANE | c.321C>G (p.Asn107Lys)
| |
19 | g.853358C>T | CA9025999 | ELANE | c.321C>T (p.Asn107=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853359G>A | CA402916218 | ELANE | c.322G>A (p.Gly108Ser)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.853359G>C | CA402916220 | ELANE | c.322G>C (p.Gly108Arg)
| ClinVar dbSNP gnomAD v4 |
19 | g.853359G= | CA2317360173 | ELANE | c.322G= (p.Gly108=)
| |
19 | g.853359G>T | CA402916223 | ELANE | c.322G>T (p.Gly108Cys)
| ClinVar gnomAD v4 |
19 | g.853360G>A | CA402916226 | ELANE | c.323G>A (p.Gly108Asp)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853360G>C | CA402916229 | ELANE | c.323G>C (p.Gly108Ala)
| |
19 | g.853360G= | CA2317360174 | ELANE | c.323G= (p.Gly108=)
| |
19 | g.853360G>T | CA402916227 | ELANE | c.323G>T (p.Gly108Val)
| gnomAD v4 |
19 | g.853361del | CA2587805079 | ELANE | c.324del (p.Tyr109ThrfsTer4)
| gnomAD v4 |
19 | g.853361C>A | CA504684983 | ELANE | c.324C>A (p.Gly108=)
| gnomAD v4 COSMIC |
19 | g.853361C>G | CA504684984 | ELANE | c.324C>G (p.Gly108=)
| |
19 | g.853361C>T | CA504684985 | ELANE | c.324C>T (p.Gly108=)
| ClinVar dbSNP gnomAD v4 |
19 | g.853362T>A | CA402916231 | ELANE | c.325T>A (p.Tyr109Asn)
| |
19 | g.853362T>C | CA402916234 | ELANE | c.325T>C (p.Tyr109His)
| |
19 | g.853362T>G | CA402916236 | ELANE | c.325T>G (p.Tyr109Asp)
| |
19 | g.853363A>C | CA402916240 | ELANE | c.326A>C (p.Tyr109Ser)
| |
19 | g.853363A>G | CA402916242 | ELANE | c.326A>G (p.Tyr109Cys)
| |
19 | g.853363A>T | CA402916246 | ELANE | c.326A>T (p.Tyr109Phe)
| |
19 | g.853364C>A | CA402916249 | ELANE | c.327C>A (p.Tyr109Ter)
| |
19 | g.853364C= | CA2317360175 | ELANE | c.327C= (p.Tyr109=)
| |
19 | g.853364C>G | CA402916251 | ELANE | c.327C>G (p.Tyr109Ter)
| dbSNP |
19 | g.853364C>T | CA504684986 | ELANE | c.327C>T (p.Tyr109=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853365G>A | CA402916253 | ELANE | c.328G>A (p.Asp110Asn)
| dbSNP |
19 | g.853365G>C | CA402916255 | ELANE | c.328G>C (p.Asp110His)
| |
19 | g.853365G>T | CA402916258 | ELANE | c.328G>T (p.Asp110Tyr)
| gnomAD v4 |
19 | g.853366A>C | CA402916265 | ELANE | c.329A>C (p.Asp110Ala)
| |
19 | g.853366A>G | CA402916267 | ELANE | c.329A>G (p.Asp110Gly)
| |
19 | g.853366A>T | CA402916263 | ELANE | c.329A>T (p.Asp110Val)
| |
19 | g.853366_853367delinsAC | CA2317360176 | ELANE | c.329_330delinsAC (p.Asp110=)
| |
19 | g.853367C>A | CA402916272 | ELANE | c.330C>A (p.Asp110Glu)
| |
19 | g.853367C= | CA2317360177 | ELANE | c.330C= (p.Asp110=)
| |
19 | g.853367C>G | CA402916274 | ELANE | c.330C>G (p.Asp110Glu)
| |
19 | g.853367C>T | CA303943303 | ELANE | c.330C>T (p.Asp110=)
| dbSNP gnomAD v4 |
19 | g.853370del | CA631007808 | ELANE | c.333del (p.Val112Ter)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853368C>A | CA402916278 | ELANE | c.331C>A (p.Pro111Thr)
| gnomAD v4 |
19 | g.853368C>G | CA402916280 | ELANE | c.331C>G (p.Pro111Ala)
| |
19 | g.853368C>T | CA402916283 | ELANE | c.331C>T (p.Pro111Ser)
| |
19 | g.853369C>A | CA402916285 | ELANE | c.332C>A (p.Pro111His)
| |
19 | g.853369C>G | CA402916288 | ELANE | c.332C>G (p.Pro111Arg)
| |
19 | g.853369C>T | CA402916289 | ELANE | c.332C>T (p.Pro111Leu)
| |
19 | g.853370C>A | CA504684987 | ELANE | c.333C>A (p.Pro111=)
| |
19 | g.853370C= | CA2317360178 | ELANE | c.333C= (p.Pro111=)
| |
19 | g.853370C>G | CA9026001 | ELANE | c.333C>G (p.Pro111=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853370C>T | CA9026000 | ELANE | c.333C>T (p.Pro111=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853370_853373dup | CA2695227791 | ELANE | c.333_336dup (p.Asn113ArgfsTer?)
| |
19 | g.853371G>A | CA9026002 | ELANE | c.334G>A (p.Val112Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853371G>C | CA402916292 | ELANE | c.334G>C (p.Val112Leu)
| |
19 | g.853371G= | CA2317360180 | ELANE | c.334G= (p.Val112=)
| |
19 | g.853371G>T | CA402916295 | ELANE | c.334G>T (p.Val112Leu)
| |
19 | g.853371_853395delinsGTAAACTTGCTCAACGACATCGTGA | CA2317360179 | ELANE | c.334_358delinsGTAAACTTGCTCAACGACATCGTGA (p.Val112=)
| |
19 | g.853372T>A | CA402916305 | ELANE | c.335T>A (p.Val112Glu)
| |
19 | g.853372T>C | CA402916299 | ELANE | c.335T>C (p.Val112Ala)
| |
19 | g.853372T>G | CA402916304 | ELANE | c.335T>G (p.Val112Gly)
| |
19 | g.853373_853396del | CA10583967 | ELANE | c.336_359del (p.Asn113_Ile120del)
| ClinVar dbSNP |
19 | g.853373A>C | CA504684988 | ELANE | c.336A>C (p.Val112=)
| |
19 | g.853373A>G | CA504684989 | ELANE | c.336A>G (p.Val112=)
| ClinVar |
19 | g.853373A>T | CA504684990 | ELANE | c.336A>T (p.Val112=)
| |
19 | g.853374A>C | CA402916306 | ELANE | c.337A>C (p.Asn113His)
| |
19 | g.853374A>G | CA402916307 | ELANE | c.337A>G (p.Asn113Asp)
| |
19 | g.853374A>T | CA402916310 | ELANE | c.337A>T (p.Asn113Tyr)
| |
19 | g.853375A= | CA2317360181 | ELANE | c.338A= (p.Asn113=)
| |
19 | g.853375A>C | CA402916314 | ELANE | c.338A>C (p.Asn113Thr)
| |
19 | g.853375A>G | CA402916316 | ELANE | c.338A>G (p.Asn113Ser)
| |
19 | g.853375A>T | CA9026003 | ELANE | c.338A>T (p.Asn113Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853376C>A | CA402916320 | ELANE | c.339C>A (p.Asn113Lys)
| |
19 | g.853376C>G | CA402916322 | ELANE | c.339C>G (p.Asn113Lys)
| |
19 | g.853376C>T | CA504684991 | ELANE | c.339C>T (p.Asn113=)
| |
19 | g.853377T>A | CA402916324 | ELANE | c.340T>A (p.Leu114Met)
| |
19 | g.853377T>C | CA504684992 | ELANE | c.340T>C (p.Leu114=)
| |
19 | g.853377T>G | CA402916326 | ELANE | c.340T>G (p.Leu114Val)
| |
19 | g.853378T>A | CA402916328 | ELANE | c.341T>A (p.Leu114Ter)
| |
19 | g.853378T>C | CA402916330 | ELANE | c.341T>C (p.Leu114Ser)
| |
19 | g.853378T>G | CA402916332 | ELANE | c.341T>G (p.Leu114Trp)
| |
19 | g.853379G>A | CA504684993 | ELANE | c.342G>A (p.Leu114=)
| |
19 | g.853379G>C | CA402916335 | ELANE | c.342G>C (p.Leu114Phe)
| |
19 | g.853379G= | CA2317360182 | ELANE | c.342G= (p.Leu114=)
| |
19 | g.853379G>T | CA402916334 | ELANE | c.342G>T (p.Leu114Phe)
| ClinVar dbSNP gnomAD v4 |
19 | g.853380C>A | CA9026004 | ELANE | c.343C>A (p.Leu115Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853380C= | CA2317360183 | ELANE | c.343C= (p.Leu115=)
| |
19 | g.853380C>G | CA402916340 | ELANE | c.343C>G (p.Leu115Val)
| |
19 | g.853380C>T | CA402916338 | ELANE | c.343C>T (p.Leu115Phe)
| gnomAD v4 |
19 | g.853381T>A | CA402916341 | ELANE | c.344T>A (p.Leu115His)
| |
19 | g.853381T>C | CA402916344 | ELANE | c.344T>C (p.Leu115Pro)
| gnomAD v4 |
19 | g.853381T>G | CA402916342 | ELANE | c.344T>G (p.Leu115Arg)
| |
19 | g.853382C>A | CA504684994 | ELANE | c.345C>A (p.Leu115=)
| |
19 | g.853382C= | CA2317360184 | ELANE | c.345C= (p.Leu115=)
| |
19 | g.853382C>G | CA504684995 | ELANE | c.345C>G (p.Leu115=)
| |
19 | g.853382C>T | CA504684996 | ELANE | c.345C>T (p.Leu115=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853383A= | CA2317360185 | ELANE | c.346A= (p.Asn116=)
| |
19 | g.853383A>C | CA402916346 | ELANE | c.346A>C (p.Asn116His)
| |
19 | g.853383A>G | CA402916348 | ELANE | c.346A>G (p.Asn116Asp)
| dbSNP |
19 | g.853383A>T | CA402916349 | ELANE | c.346A>T (p.Asn116Tyr)
| |
19 | g.853384A= | CA2317360186 | ELANE | c.347A= (p.Asn116=)
| |
19 | g.853384A>C | CA402916351 | ELANE | c.347A>C (p.Asn116Thr)
| |
19 | g.853384A>G | CA402916353 | ELANE | c.347A>G (p.Asn116Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853384A>T | CA402916355 | ELANE | c.347A>T (p.Asn116Ile)
| |
19 | g.853385C>A | CA9026005 | ELANE | c.348C>A (p.Asn116Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853385C= | CA2317360187 | ELANE | c.348C= (p.Asn116=)
| |
19 | g.853385C>G | CA402916356 | ELANE | c.348C>G (p.Asn116Lys)
| |
19 | g.853385C>T | CA504684997 | ELANE | c.348C>T (p.Asn116=)
| gnomAD v4 |
19 | g.853386G>A | CA402916358 | ELANE | c.349G>A (p.Asp117Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.853386G>C | CA402916360 | ELANE | c.349G>C (p.Asp117His)
| ClinVar |
19 | g.853386G= | CA2317360188 | ELANE | c.349G= (p.Asp117=)
| |
19 | g.853386G>T | CA402916361 | ELANE | c.349G>T (p.Asp117Tyr)
| gnomAD v4 |
19 | g.853387A= | CA2317360189 | ELANE | c.350A= (p.Asp117=)
| |
19 | g.853387A>C | CA402916364 | ELANE | c.350A>C (p.Asp117Ala)
| |
19 | g.853387A>G | CA9026006 | ELANE | c.350A>G (p.Asp117Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853387A>T | CA402916365 | ELANE | c.350A>T (p.Asp117Val)
| |
19 | g.853388C>A | CA402916367 | ELANE | c.351C>A (p.Asp117Glu)
| |
19 | g.853388C= | CA2317360190 | ELANE | c.351C= (p.Asp117=)
| |
19 | g.853388C>G | CA402916369 | ELANE | c.351C>G (p.Asp117Glu)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853388C>T | CA504684998 | ELANE | c.351C>T (p.Asp117=)
| |
19 | g.853389A= | CA2317360191 | ELANE | c.352A= (p.Ile118=)
| |
19 | g.853389A>C | CA402916371 | ELANE | c.352A>C (p.Ile118Leu)
| |
19 | g.853389A>G | CA402916373 | ELANE | c.352A>G (p.Ile118Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853389A>T | CA402916375 | ELANE | c.352A>T (p.Ile118Phe)
| |
19 | g.853390T>A | CA402916377 | ELANE | c.353T>A (p.Ile118Asn)
| ClinVar dbSNP |
19 | g.853390T>C | CA402916378 | ELANE | c.353T>C (p.Ile118Thr)
| |
19 | g.853390T>G | CA402916381 | ELANE | c.353T>G (p.Ile118Ser)
| |
19 | g.853390T= | CA2317360192 | ELANE | c.353T= (p.Ile118=)
| |
19 | g.853391C>A | CA504684999 | ELANE | c.354C>A (p.Ile118=)
| gnomAD v4 |
19 | g.853391C= | CA2317360193 | ELANE | c.354C= (p.Ile118=)
| |
19 | g.853391C>G | CA9026007 | ELANE | c.354C>G (p.Ile118Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853391C>T | CA504685000 | ELANE | c.354C>T (p.Ile118=)
| ClinVar dbSNP gnomAD v4 |
19 | g.853392G>A | CA402916387 | ELANE | c.355G>A (p.Val119Met)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853392G>C | CA402916389 | ELANE | c.355G>C (p.Val119Leu)
| ClinVar |
19 | g.853392G= | CA2317360194 | ELANE | c.355G= (p.Val119=)
| |
19 | g.853392G>T | CA402916384 | ELANE | c.355G>T (p.Val119Leu)
| |
19 | g.853393T>A | CA402916392 | ELANE | c.356T>A (p.Val119Glu)
| |
19 | g.853393T>C | CA402916394 | ELANE | c.356T>C (p.Val119Ala)
| |
19 | g.853393T>G | CA402916397 | ELANE | c.356T>G (p.Val119Gly)
| |
19 | g.853394G>A | CA504685003 | ELANE | c.357G>A (p.Val119=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853394G>C | CA504685002 | ELANE | c.357G>C (p.Val119=)
| |
19 | g.853394G= | CA2317360195 | ELANE | c.357G= (p.Val119=)
| |
19 | g.853394G>T | CA504685001 | ELANE | c.357G>T (p.Val119=)
| gnomAD v4 |
19 | g.853395A= | CA2317360196 | ELANE | c.358A= (p.Ile120=)
| |
19 | g.853395A>C | CA402916400 | ELANE | c.358A>C (p.Ile120Leu)
| |
19 | g.853395A>G | CA402916402 | ELANE | c.358A>G (p.Ile120Val)
| |
19 | g.853395A>T | CA402916404 | ELANE | c.358A>T (p.Ile120Phe)
| ClinVar dbSNP |
19 | g.853396T>A | CA402916407 | ELANE | c.359T>A (p.Ile120Asn)
| |
19 | g.853396T>C | CA402916411 | ELANE | c.359T>C (p.Ile120Thr)
| |
19 | g.853396T>G | CA402916409 | ELANE | c.359T>G (p.Ile120Ser)
| |
19 | g.853396_853398delinsATT | CA2695227792 | ELANE | c.359_361delinsATT (p.Ile120_Leu121delinsAsnPhe)
| |
19 | g.853397T>A | CA504685004 | ELANE | c.360T>A (p.Ile120=)
| |
19 | g.853397T>C | CA504685005 | ELANE | c.360T>C (p.Ile120=)
| |
19 | g.853397T>G | CA402916415 | ELANE | c.360T>G (p.Ile120Met)
| |
19 | g.853398C>A | CA402916418 | ELANE | c.361C>A (p.Leu121Ile)
| |
19 | g.853398C>G | CA402916419 | ELANE | c.361C>G (p.Leu121Val)
| |
19 | g.853398C>T | CA402916422 | ELANE | c.361C>T (p.Leu121Phe)
| gnomAD v4 |
19 | g.853399T>A | CA402916425 | ELANE | c.362T>A (p.Leu121His)
| |
19 | g.853399T>C | CA402916428 | ELANE | c.362T>C (p.Leu121Pro)
| |
19 | g.853399T>G | CA402916427 | ELANE | c.362T>G (p.Leu121Arg)
| ClinVar |
19 | g.853400C>A | CA504685006 | ELANE | c.363C>A (p.Leu121=)
| gnomAD v4 |
19 | g.853400C= | CA2317360197 | ELANE | c.363C= (p.Leu121=)
| |
19 | g.853400C>G | CA9026008 | ELANE | c.363C>G (p.Leu121=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853400C>T | CA504685007 | ELANE | c.363C>T (p.Leu121=)
| |
19 | g.853401del | CA2560332857 | ELANE | c.364del (p.Gln122SerfsTer?)
| |
19 | g.853401C>A | CA402916431 | ELANE | c.364C>A (p.Gln122Lys)
| |
19 | g.853401C= | CA2317360198 | ELANE | c.364C= (p.Gln122=)
| |
19 | g.853401C>G | CA402916433 | ELANE | c.364C>G (p.Gln122Glu)
| |
19 | g.853401C>T | CA402916436 | ELANE | c.364C>T (p.Gln122Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853402A>C | CA402916440 | ELANE | c.365A>C (p.Gln122Pro)
| gnomAD v4 |
19 | g.853402A>G | CA402916442 | ELANE | c.365A>G (p.Gln122Arg)
| gnomAD v4 |
19 | g.853402A>T | CA402916445 | ELANE | c.365A>T (p.Gln122Leu)
| |
19 | g.853403G>A | CA504685008 | ELANE | c.366G>A (p.Gln122=)
| |
19 | g.853403G>C | CA402916446 | ELANE | c.366G>C (p.Gln122His)
| |
19 | g.853403G>T | CA402916449 | ELANE | c.366G>T (p.Gln122His)
| |
19 | g.853404G>A | CA402916452 | ELANE | c.366+1G>A (n.366+1G>A)
| |
19 | g.853404G>C | CA402916454 | ELANE | c.366+1G>C (n.366+1G>C)
| |
19 | g.853404G>T | CA402916457 | ELANE | c.366+1G>T (n.366+1G>T)
| |
19 | g.853405T>A | CA402916467 | ELANE | c.366+2T>A (n.366+2T>A)
| |
19 | g.853405T>C | CA402916475 | ELANE | c.366+2T>C (n.366+2T>C)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853405T>G | CA402916465 | ELANE | c.366+2T>G (n.366+2T>G)
| |
19 | g.853405T= | CA2317360199 | ELANE | c.366+2T= (n.366+2T=)
| |
19 | g.853407C= | CA2317360200 | ELANE | c.366+4C= (n.366+4C=)
| |
19 | g.853407C>T | CA303943326 | ELANE | c.366+4C>T (n.366+4C>T)
| dbSNP |
19 | g.853408C>A | CA2813227038 | ELANE | c.366+5C>A (n.366+5C>A)
| |
19 | g.853408C= | CA2317360201 | ELANE | c.366+5C= (n.366+5C=)
| |
19 | g.853408C>T | CA504685009 | ELANE | c.366+5C>T (n.366+5C>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853409G>A | CA2587805080 | ELANE | c.366+6G>A (n.366+6G>A)
| gnomAD v4 |
19 | g.853409G= | CA2317360202 | ELANE | c.366+6G= (n.366+6G=)
| |
19 | g.853409G>T | CA884313455 | ELANE | c.366+6G>T (n.366+6G>T)
| dbSNP |
19 | g.853410C= | CA2317360203 | ELANE | c.366+7C= (n.366+7C=)
| |
19 | g.853410C>T | CA884313464 | ELANE | c.366+7C>T (n.366+7C>T)
| ClinVar dbSNP gnomAD v4 |
19 | g.853411C= | CA2317360204 | ELANE | c.366+8C= (n.366+8C=)
| |
19 | g.853411C>T | CA9026009 | ELANE | c.366+8C>T (n.366+8C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853411_853416delinsCGGGCG | CA2317360205 | ELANE | c.366+8_366+13delinsCGGGCG (n.366+8_366+13delinsCGGGCG)
| |
19 | g.853412G>A | CA9026010 | ELANE | c.366+9G>A (n.366+9G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853412G= | CA2317360206 | ELANE | c.366+9G= (n.366+9G=)
| |
19 | g.853412G>T | CA2587805081 | ELANE | c.366+9G>T (n.366+9G>T)
| gnomAD v4 |
19 | g.853420_853424del | CA884313469 | ELANE | c.366+17_366+21del (n.366+17_366+21del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.853413G>A | CA631007829 | ELANE | c.366+10G>A (n.366+10G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853413G>C | CA9026011 | ELANE | c.366+10G>C (n.366+10G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853413G= | CA2317360207 | ELANE | c.366+10G= (n.366+10G=)
| |
19 | g.853413G>T | CA631007831 | ELANE | c.366+10G>T (n.366+10G>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853414G>A | CA2587805082 | ELANE | c.366+11G>A (n.366+11G>A)
| gnomAD v4 |
19 | g.853414G>T | CA2587805083 | ELANE | c.366+11G>T (n.366+11G>T)
| gnomAD v4 |
19 | g.853415C>A | CA9026012 | ELANE | c.366+12C>A (n.366+12C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853415C= | CA2317360208 | ELANE | c.366+12C= (n.366+12C=)
| |
19 | g.853415C>T | CA884313481 | ELANE | c.366+12C>T (n.366+12C>T)
| dbSNP gnomAD v4 |
19 | g.853415_853416delinsCG | CA2317360209 | ELANE | c.366+12_366+13delinsCG (n.366+12_366+13delinsCG)
| |
19 | g.853416G>A | CA2587805084 | ELANE | c.366+13G>A (n.366+13G>A)
| gnomAD v4 |
19 | g.853416G>C | CA303943344 | ELANE | c.366+13G>C (n.366+13G>C)
| ClinVar dbSNP |
19 | g.853416G= | CA2317360210 | ELANE | c.366+13G= (n.366+13G=)
| |
19 | g.853416G>T | CA2587805085 | ELANE | c.366+13G>T (n.366+13G>T)
| gnomAD v4 |
19 | g.853419del | CA2317360211 | ELANE | c.366+16del (n.366+16del)
| dbSNP |
19 | g.853423_853437del | CA2813227042 | ELANE | c.366+20_366+34del (n.366+20_366+34del)
| |
19 | g.853417G>A | CA2587805086 | ELANE | c.366+14G>A (n.366+14G>A)
| gnomAD v4 |
19 | g.853417G>C | CA2576540469 | ELANE | c.366+14G>C (n.366+14G>C)
| gnomAD v4 |
19 | g.853417G= | CA2317360212 | ELANE | c.366+14G= (n.366+14G=)
| |
19 | g.853417G>T | CA631007833 | ELANE | c.366+14G>T (n.366+14G>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853419G>A | CA631007834 | ELANE | c.366+16G>A (n.366+16G>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853419G= | CA2317360213 | ELANE | c.366+16G= (n.366+16G=)
| |
19 | g.853420C>A | CA2587805087 | ELANE | c.366+17C>A (n.366+17C>A)
| gnomAD v4 |
19 | g.853420C= | CA2317360214 | ELANE | c.366+17C= (n.366+17C=)
| |
19 | g.853420C>G | CA2576540470 | ELANE | c.366+17C>G (n.366+17C>G)
| gnomAD v4 |
19 | g.853420C>T | CA9026013 | ELANE | c.366+17C>T (n.366+17C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853421G>A | CA9026014 | ELANE | c.366+18G>A (n.366+18G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853421G= | CA2317360215 | ELANE | c.366+18G= (n.366+18G=)
| |
19 | g.853421G>T | CA2587805089 | ELANE | c.366+18G>T (n.366+18G>T)
| gnomAD v4 |
19 | g.853426dup | CA631007838 | ELANE | c.366+23dup (n.366+23dup)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853426del | CA2587805088 | ELANE | c.366+23del (n.366+23del)
| ClinVar gnomAD v4 |
19 | g.853422G>A | CA2587805090 | ELANE | c.366+19G>A (n.366+19G>A)
| gnomAD v4 |
19 | g.853422G= | CA2317360216 | ELANE | c.366+19G= (n.366+19G=)
| |
19 | g.853422G>T | CA884313500 | ELANE | c.366+19G>T (n.366+19G>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.853423G>A | CA2587805091 | ELANE | c.366+20G>A (n.366+20G>A)
| gnomAD v4 |