19 | g.855562A>C | CA402917673 | ELANE | c.367-2A>C (n.367-2A>C)
| |
19 | g.855562A>G | CA402917677 | ELANE | c.367-2A>G (n.367-2A>G)
| gnomAD v4 |
19 | g.855562A>T | CA402917674 | ELANE | c.367-2A>T (n.367-2A>T)
| |
19 | g.855563G>A | CA402917680 | ELANE | c.367-1G>A (n.367-1G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855563G>C | CA402917683 | ELANE | c.367-1G>C (n.367-1G>C)
| ClinVar dbSNP |
19 | g.855563G= | CA2317361338 | ELANE | c.367-1G= (n.367-1G=)
| |
19 | g.855563G>T | CA402917682 | ELANE | c.367-1G>T (n.367-1G>T)
| gnomAD v4 |
19 | g.855564C>A | CA402917687 | ELANE | c.367C>A (p.Leu123Ile)
| gnomAD v4 |
19 | g.855564C= | CA2317361339 | ELANE | c.367C= (p.Leu123=)
| |
19 | g.855564C>G | CA402917690 | ELANE | c.367C>G (p.Leu123Val)
| ClinVar dbSNP |
19 | g.855564C>T | CA402917692 | ELANE | c.367C>T (p.Leu123Phe)
| gnomAD v4 |
19 | g.855565T>A | CA402917696 | ELANE | c.368T>A (p.Leu123His)
| |
19 | g.855565T>C | CA402917698 | ELANE | c.368T>C (p.Leu123Pro)
| ClinVar dbSNP |
19 | g.855565T>G | CA402917700 | ELANE | c.368T>G (p.Leu123Arg)
| |
19 | g.855566C>A | CA504881741 | ELANE | c.369C>A (p.Leu123=)
| |
19 | g.855566C= | CA2317361340 | ELANE | c.369C= (p.Leu123=)
| |
19 | g.855566C>G | CA504881742 | ELANE | c.369C>G (p.Leu123=)
| dbSNP |
19 | g.855566C>T | CA504881743 | ELANE | c.369C>T (p.Leu123=)
| |
19 | g.855567A= | CA2317361341 | ELANE | c.370A= (p.Asn124=)
| |
19 | g.855567A>C | CA402917703 | ELANE | c.370A>C (p.Asn124His)
| gnomAD v4 |
19 | g.855567A>G | CA9026037 | ELANE | c.370A>G (p.Asn124Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855567A>T | CA402917706 | ELANE | c.370A>T (p.Asn124Tyr)
| |
19 | g.855568A>C | CA402917710 | ELANE | c.371A>C (p.Asn124Thr)
| |
19 | g.855568A>G | CA402917712 | ELANE | c.371A>G (p.Asn124Ser)
| |
19 | g.855568A>T | CA402917713 | ELANE | c.371A>T (p.Asn124Ile)
| |
19 | g.855569C>A | CA402917721 | ELANE | c.372C>A (p.Asn124Lys)
| ClinVar dbSNP gnomAD v4 |
19 | g.855569C= | CA2317361342 | ELANE | c.372C= (p.Asn124=)
| |
19 | g.855569C>G | CA402917716 | ELANE | c.372C>G (p.Asn124Lys)
| |
19 | g.855569C>T | CA9026038 | ELANE | c.372C>T (p.Asn124=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855570G>A | CA9026039 | ELANE | c.373G>A (p.Gly125Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855570G>C | CA402917725 | ELANE | c.373G>C (p.Gly125Arg)
| |
19 | g.855570G= | CA2317361343 | ELANE | c.373G= (p.Gly125=)
| |
19 | g.855570G>T | CA402917728 | ELANE | c.373G>T (p.Gly125Trp)
| gnomAD v4 |
19 | g.855571G>A | CA402917733 | ELANE | c.374G>A (p.Gly125Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855571G>C | CA402917734 | ELANE | c.374G>C (p.Gly125Ala)
| |
19 | g.855571G= | CA2317361344 | ELANE | c.374G= (p.Gly125=)
| |
19 | g.855571G>T | CA402917736 | ELANE | c.374G>T (p.Gly125Val)
| |
19 | g.855572G>A | CA303944677 | ELANE | c.375G>A (p.Gly125=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855572G>C | CA504881744 | ELANE | c.375G>C (p.Gly125=)
| |
19 | g.855572G= | CA2317361345 | ELANE | c.375G= (p.Gly125=)
| |
19 | g.855572G>T | CA504881745 | ELANE | c.375G>T (p.Gly125=)
| |
19 | g.855573T>A | CA402917742 | ELANE | c.376T>A (p.Ser126Thr)
| |
19 | g.855573T>C | CA402917747 | ELANE | c.376T>C (p.Ser126Pro)
| |
19 | g.855573T>G | CA402917750 | ELANE | c.376T>G (p.Ser126Ala)
| |
19 | g.855574C>A | CA303944686 | ELANE | c.377C>A (p.Ser126Ter)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855574C= | CA2317361346 | ELANE | c.377C= (p.Ser126=)
| |
19 | g.855574C>G | CA402917752 | ELANE | c.377C>G (p.Ser126Trp)
| ClinVar dbSNP |
19 | g.855574C>T | CA281055 | ELANE | c.377C>T (p.Ser126Leu)
| ClinVar dbSNP gnomAD v4 |
19 | g.855575G>A | CA9026040 | ELANE | c.378G>A (p.Ser126=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855575G>C | CA504881746 | ELANE | c.378G>C (p.Ser126=)
| |
19 | g.855575G= | CA2317361347 | ELANE | c.378G= (p.Ser126=)
| |
19 | g.855575G>T | CA504881747 | ELANE | c.378G>T (p.Ser126=)
| gnomAD v4 |
19 | g.855575_855576del | CA2587805309 | ELANE | c.378_379del (p.Ala127HisfsTer?)
| gnomAD v4 |
19 | g.855576G>A | CA402917757 | ELANE | c.379G>A (p.Ala127Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855576G>C | CA402917760 | ELANE | c.379G>C (p.Ala127Pro)
| |
19 | g.855576G= | CA2317361348 | ELANE | c.379G= (p.Ala127=)
| |
19 | g.855576G>T | CA402917763 | ELANE | c.379G>T (p.Ala127Ser)
| |
19 | g.855576_855579delinsGCCA | CA2317361349 | ELANE | c.379_382delinsGCCA (p.Ala127=)
| |
19 | g.855577C>A | CA402917766 | ELANE | c.380C>A (p.Ala127Asp)
| gnomAD v4 |
19 | g.855577C= | CA2317361350 | ELANE | c.380C= (p.Ala127=)
| |
19 | g.855577C>G | CA402917768 | ELANE | c.380C>G (p.Ala127Gly)
| |
19 | g.855577C>T | CA9026041 | ELANE | c.380C>T (p.Ala127Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855580_855582del | CA915951612 | ELANE | c.383_385del (p.Thr128del)
| ClinVar dbSNP |
19 | g.855578C>A | CA504881750 | ELANE | c.381C>A (p.Ala127=)
| gnomAD v4 |
19 | g.855578C>G | CA504881749 | ELANE | c.381C>G (p.Ala127=)
| |
19 | g.855578C>T | CA504881748 | ELANE | c.381C>T (p.Ala127=)
| |
19 | g.855579A>C | CA402917774 | ELANE | c.382A>C (p.Thr128Pro)
| |
19 | g.855579A>G | CA402917777 | ELANE | c.382A>G (p.Thr128Ala)
| gnomAD v4 |
19 | g.855579A>T | CA402917779 | ELANE | c.382A>T (p.Thr128Ser)
| |
19 | g.855579_855580insACAACAAA | CA2813227121 | ELANE | c.382_383insACAACAAA (p.Thr128AsnfsTer?)
| |
19 | g.855580C>A | CA402917780 | ELANE | c.383C>A (p.Thr128Asn)
| |
19 | g.855580C>G | CA402917782 | ELANE | c.383C>G (p.Thr128Ser)
| |
19 | g.855580C>T | CA402917784 | ELANE | c.383C>T (p.Thr128Ile)
| |
19 | g.855581del | CA2813227122 | ELANE | c.384del (p.Ile129SerfsTer?)
| |
19 | g.855581C>A | CA504881751 | ELANE | c.384C>A (p.Thr128=)
| |
19 | g.855581C= | CA2317361351 | ELANE | c.384C= (p.Thr128=)
| |
19 | g.855581C>G | CA504881752 | ELANE | c.384C>G (p.Thr128=)
| |
19 | g.855581C>T | CA9026042 | ELANE | c.384C>T (p.Thr128=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855583_855585del | CA2695227793 | ELANE | c.386_388del (p.Ile129del)
| |
19 | g.855582del | CA2587805310 | ELANE | c.385del (p.Ile129SerfsTer?)
| gnomAD v4 |
19 | g.855582A= | CA2317361352 | ELANE | c.385A= (p.Ile129=)
| |
19 | g.855582A>C | CA402917788 | ELANE | c.385A>C (p.Ile129Leu)
| |
19 | g.855582A>G | CA402917790 | ELANE | c.385A>G (p.Ile129Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.855582A>T | CA402917792 | ELANE | c.385A>T (p.Ile129Phe)
| gnomAD v4 |
19 | g.855583T>A | CA402917794 | ELANE | c.386T>A (p.Ile129Asn)
| |
19 | g.855583T>C | CA303944696 | ELANE | c.386T>C (p.Ile129Thr)
| dbSNP |
19 | g.855583T>G | CA402917796 | ELANE | c.386T>G (p.Ile129Ser)
| |
19 | g.855583T= | CA2317361353 | ELANE | c.386T= (p.Ile129=)
| |
19 | g.855583_855584del | CA2813227123 | ELANE | c.386_387del (p.Ile129LysfsTer?)
| |
19 | g.855584C>A | CA504881753 | ELANE | c.387C>A (p.Ile129=)
| |
19 | g.855584C>G | CA402917799 | ELANE | c.387C>G (p.Ile129Met)
| gnomAD v4 |
19 | g.855584C>T | CA504881754 | ELANE | c.387C>T (p.Ile129=)
| gnomAD v4 |
19 | g.855584_855587del | CA2587805311 | ELANE | c.387_390del (p.Ile129MetfsTer?)
| gnomAD v4 |
19 | g.855585A>C | CA402917801 | ELANE | c.388A>C (p.Asn130His)
| |
19 | g.855585A>G | CA402917803 | ELANE | c.388A>G (p.Asn130Asp)
| gnomAD v4 |
19 | g.855585A>T | CA402917805 | ELANE | c.388A>T (p.Asn130Tyr)
| |
19 | g.855586A= | CA2317361354 | ELANE | c.389A= (p.Asn130=)
| |
19 | g.855586A>C | CA402917808 | ELANE | c.389A>C (p.Asn130Thr)
| |
19 | g.855586A>G | CA9026043 | ELANE | c.389A>G (p.Asn130Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855586A>T | CA402917811 | ELANE | c.389A>T (p.Asn130Ile)
| |
19 | g.855587C>A | CA402917814 | ELANE | c.390C>A (p.Asn130Lys)
| gnomAD v4 |
19 | g.855587C= | CA2317361355 | ELANE | c.390C= (p.Asn130=)
| |
19 | g.855587C>G | CA402917816 | ELANE | c.390C>G (p.Asn130Lys)
| |
19 | g.855587C>T | CA9026044 | ELANE | c.390C>T (p.Asn130=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855588G>A | CA9026045 | ELANE | c.391G>A (p.Ala131Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855588G>C | CA402917820 | ELANE | c.391G>C (p.Ala131Pro)
| |
19 | g.855588G= | CA2317361356 | ELANE | c.391G= (p.Ala131=)
| |
19 | g.855588G>T | CA303944721 | ELANE | c.391G>T (p.Ala131Ser)
| dbSNP gnomAD v4 |
19 | g.855589C>A | CA402917826 | ELANE | c.392C>A (p.Ala131Asp)
| gnomAD v4 |
19 | g.855589C= | CA2317361357 | ELANE | c.392C= (p.Ala131=)
| |
19 | g.855589C>G | CA402917827 | ELANE | c.392C>G (p.Ala131Gly)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855589C>T | CA402917829 | ELANE | c.392C>T (p.Ala131Val)
| ClinVar dbSNP |
19 | g.855589_855590insACCCAACA | CA2813227124 | ELANE | c.392_393insACCCAACA (p.Asn132ProfsTer?)
| |
19 | g.855590C>A | CA504881755 | ELANE | c.393C>A (p.Ala131=)
| |
19 | g.855590C>G | CA504881756 | ELANE | c.393C>G (p.Ala131=)
| |
19 | g.855590C>T | CA504881757 | ELANE | c.393C>T (p.Ala131=)
| |
19 | g.855591A>C | CA402917835 | ELANE | c.394A>C (p.Asn132His)
| |
19 | g.855591A>G | CA402917833 | ELANE | c.394A>G (p.Asn132Asp)
| |
19 | g.855591A>T | CA402917832 | ELANE | c.394A>T (p.Asn132Tyr)
| |
19 | g.855592A>C | CA402917837 | ELANE | c.395A>C (p.Asn132Thr)
| |
19 | g.855592A>G | CA402917840 | ELANE | c.395A>G (p.Asn132Ser)
| gnomAD v4 |
19 | g.855592A>T | CA402917842 | ELANE | c.395A>T (p.Asn132Ile)
| |
19 | g.855593C>A | CA303944724 | ELANE | c.396C>A (p.Asn132Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855593C= | CA2317361358 | ELANE | c.396C= (p.Asn132=)
| |
19 | g.855593C>G | CA402917847 | ELANE | c.396C>G (p.Asn132Lys)
| |
19 | g.855593C>T | CA9026046 | ELANE | c.396C>T (p.Asn132=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.855594G>A | CA402917850 | ELANE | c.397G>A (p.Val133Met)
| gnomAD v4 |
19 | g.855594G>C | CA402917855 | ELANE | c.397G>C (p.Val133Leu)
| dbSNP gnomAD v2 |
19 | g.855594G= | CA2317361359 | ELANE | c.397G= (p.Val133=)
| |
19 | g.855594G>T | CA402917853 | ELANE | c.397G>T (p.Val133Leu)
| gnomAD v4 |
19 | g.855595del | CA2587805312 | ELANE | c.398del (p.Val133GlyfsTer?)
| gnomAD v4 |
19 | g.855595T>A | CA402917857 | ELANE | c.398T>A (p.Val133Glu)
| |
19 | g.855595T>C | CA402917858 | ELANE | c.398T>C (p.Val133Ala)
| |
19 | g.855595T>G | CA402917859 | ELANE | c.398T>G (p.Val133Gly)
| |
19 | g.855596G>A | CA504881758 | ELANE | c.399G>A (p.Val133=)
| |
19 | g.855596G>C | CA504881759 | ELANE | c.399G>C (p.Val133=)
| |
19 | g.855596G>T | CA504881760 | ELANE | c.399G>T (p.Val133=)
| gnomAD v4 |
19 | g.855597C>A | CA402917862 | ELANE | c.400C>A (p.Gln134Lys)
| |
19 | g.855597C>G | CA402917864 | ELANE | c.400C>G (p.Gln134Glu)
| |
19 | g.855597C>T | CA402917866 | ELANE | c.400C>T (p.Gln134Ter)
| gnomAD v4 |
19 | g.855598A>C | CA402917871 | ELANE | c.401A>C (p.Gln134Pro)
| |
19 | g.855598A>G | CA402917873 | ELANE | c.401A>G (p.Gln134Arg)
| ClinVar |
19 | g.855598A>T | CA402917876 | ELANE | c.401A>T (p.Gln134Leu)
| |
19 | g.855599G>A | CA504881764 | ELANE | c.402G>A (p.Gln134=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855599G>C | CA402917879 | ELANE | c.402G>C (p.Gln134His)
| dbSNP |
19 | g.855599G= | CA2317361360 | ELANE | c.402G= (p.Gln134=)
| |
19 | g.855599G>T | CA402917881 | ELANE | c.402G>T (p.Gln134His)
| gnomAD v4 |
19 | g.855600G>A | CA9026047 | ELANE | c.403G>A (p.Val135Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855600G>C | CA402917885 | ELANE | c.403G>C (p.Val135Leu)
| |
19 | g.855600G= | CA2317361361 | ELANE | c.403G= (p.Val135=)
| |
19 | g.855600G>T | CA402917883 | ELANE | c.403G>T (p.Val135Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855601T>A | CA402917892 | ELANE | c.404T>A (p.Val135Glu)
| gnomAD v4 |
19 | g.855601T>C | CA402917889 | ELANE | c.404T>C (p.Val135Ala)
| gnomAD v4 |
19 | g.855601T>G | CA402917890 | ELANE | c.404T>G (p.Val135Gly)
| |
19 | g.855602G>A | CA504881846 | ELANE | c.405G>A (p.Val135=)
| |
19 | g.855602G>C | CA504881845 | ELANE | c.405G>C (p.Val135=)
| |
19 | g.855602G>T | CA504881843 | ELANE | c.405G>T (p.Val135=)
| ClinVar gnomAD v4 |
19 | g.855603G>A | CA402917894 | ELANE | c.406G>A (p.Ala136Thr)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.855603G>C | CA402917897 | ELANE | c.406G>C (p.Ala136Pro)
| |
19 | g.855603G= | CA2317361362 | ELANE | c.406G= (p.Ala136=)
| |
19 | g.855603G>T | CA402917898 | ELANE | c.406G>T (p.Ala136Ser)
| gnomAD v4 |
19 | g.855603_855604insGACCAGCTGCCGGCG | CA2695227794 | ELANE | c.406_407insGACCAGCTGCCGGCG (p.Val135_Ala136insGlyProAlaAlaGly)
| |
19 | g.855604C>A | CA402917902 | ELANE | c.407C>A (p.Ala136Asp)
| gnomAD v4 |
19 | g.855604C= | CA2317361363 | ELANE | c.407C= (p.Ala136=)
| |
19 | g.855604C>G | CA402917904 | ELANE | c.407C>G (p.Ala136Gly)
| gnomAD v4 |
19 | g.855604C>T | CA9026048 | ELANE | c.407C>T (p.Ala136Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855606del | CA2587805313 | ELANE | c.409del (p.Gln137SerfsTer?)
| gnomAD v4 |
19 | g.855605C>A | CA504881849 | ELANE | c.408C>A (p.Ala136=)
| gnomAD v4 |
19 | g.855605C= | CA2317361364 | ELANE | c.408C= (p.Ala136=)
| |
19 | g.855605C>G | CA504881850 | ELANE | c.408C>G (p.Ala136=)
| |
19 | g.855605C>T | CA504881851 | ELANE | c.408C>T (p.Ala136=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855607_855613del | CA2740091832 | ELANE | c.410_416del (p.Gln137ArgfsTer?)
| ClinVar |
19 | g.855606C>A | CA402917908 | ELANE | c.409C>A (p.Gln137Lys)
| |
19 | g.855606C= | CA2317361365 | ELANE | c.409C= (p.Gln137=)
| |
19 | g.855606C>G | CA402917910 | ELANE | c.409C>G (p.Gln137Glu)
| |
19 | g.855606C>T | CA402917913 | ELANE | c.409C>T (p.Gln137Ter)
| dbSNP |
19 | g.855607A= | CA2317361366 | ELANE | c.410A= (p.Gln137=)
| |
19 | g.855607A>C | CA402917916 | ELANE | c.410A>C (p.Gln137Pro)
| |
19 | g.855607A>G | CA402917917 | ELANE | c.410A>G (p.Gln137Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855607A>T | CA402917919 | ELANE | c.410A>T (p.Gln137Leu)
| |
19 | g.855608G>A | CA504881852 | ELANE | c.411G>A (p.Gln137=)
| gnomAD v4 |
19 | g.855608G>C | CA402917923 | ELANE | c.411G>C (p.Gln137His)
| ClinVar |
19 | g.855608G>T | CA402917925 | ELANE | c.411G>T (p.Gln137His)
| gnomAD v4 |
19 | g.855609C>A | CA402917927 | ELANE | c.412C>A (p.Leu138Met)
| gnomAD v4 |
19 | g.855609C>G | CA402917929 | ELANE | c.412C>G (p.Leu138Val)
| |
19 | g.855609C>T | CA504881854 | ELANE | c.412C>T (p.Leu138=)
| gnomAD v4 |
19 | g.855610T>A | CA402917932 | ELANE | c.413T>A (p.Leu138Gln)
| ClinVar |
19 | g.855610T>C | CA402917933 | ELANE | c.413T>C (p.Leu138Pro)
| gnomAD v4 |
19 | g.855610T>G | CA402917935 | ELANE | c.413T>G (p.Leu138Arg)
| |
19 | g.855611G>A | CA504881856 | ELANE | c.414G>A (p.Leu138=)
| gnomAD v4 |
19 | g.855611G>C | CA504881857 | ELANE | c.414G>C (p.Leu138=)
| |
19 | g.855611G>T | CA504881858 | ELANE | c.414G>T (p.Leu138=)
| gnomAD v4 |
19 | g.855612C>A | CA402917937 | ELANE | c.415C>A (p.Pro139Thr)
| gnomAD v4 |
19 | g.855612C>G | CA402917940 | ELANE | c.415C>G (p.Pro139Ala)
| gnomAD v4 |
19 | g.855612C>T | CA402917942 | ELANE | c.415C>T (p.Pro139Ser)
| gnomAD v4 |
19 | g.855613C>A | CA402917943 | ELANE | c.416C>A (p.Pro139Gln)
| |
19 | g.855613C= | CA2317361367 | ELANE | c.416C= (p.Pro139=)
| |
19 | g.855613C>G | CA402917946 | ELANE | c.416C>G (p.Pro139Arg)
| ClinVar |
19 | g.855613C>T | CA281050 | ELANE | c.416C>T (p.Pro139Leu)
| ClinVar dbSNP gnomAD v4 |
19 | g.855614G>A | CA9026049 | ELANE | c.417G>A (p.Pro139=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855614G>C | CA9026050 | ELANE | c.417G>C (p.Pro139=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855614G= | CA2317361368 | ELANE | c.417G= (p.Pro139=)
| |
19 | g.855614G>T | CA504881860 | ELANE | c.417G>T (p.Pro139=)
| gnomAD v4 |
19 | g.855615G>A | CA402917953 | ELANE | c.418G>A (p.Ala140Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.855615G>C | CA402917956 | ELANE | c.418G>C (p.Ala140Pro)
| |
19 | g.855615G= | CA2317361369 | ELANE | c.418G= (p.Ala140=)
| |
19 | g.855615G>T | CA9026051 | ELANE | c.418G>T (p.Ala140Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855616C>A | CA402917959 | ELANE | c.419C>A (p.Ala140Asp)
| gnomAD v4 |
19 | g.855616C= | CA2317361370 | ELANE | c.419C= (p.Ala140=)
| |
19 | g.855616C>G | CA402917964 | ELANE | c.419C>G (p.Ala140Gly)
| |
19 | g.855616C>T | CA9026052 | ELANE | c.419C>T (p.Ala140Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855617T>A | CA9026053 | ELANE | c.420T>A (p.Ala140=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855617T>C | CA504881861 | ELANE | c.420T>C (p.Ala140=)
| |
19 | g.855617T>G | CA504881862 | ELANE | c.420T>G (p.Ala140=)
| |
19 | g.855617T= | CA2317361371 | ELANE | c.420T= (p.Ala140=)
| |
19 | g.855618C>A | CA402917966 | ELANE | c.421C>A (p.Gln141Lys)
| |
19 | g.855618C>G | CA402917969 | ELANE | c.421C>G (p.Gln141Glu)
| COSMIC |
19 | g.855618C>T | CA402917972 | ELANE | c.421C>T (p.Gln141Ter)
| gnomAD v4 |
19 | g.855619A= | CA2317361372 | ELANE | c.422A= (p.Gln141=)
| |
19 | g.855619A>C | CA402917974 | ELANE | c.422A>C (p.Gln141Pro)
| |
19 | g.855619A>G | CA402917975 | ELANE | c.422A>G (p.Gln141Arg)
| dbSNP |
19 | g.855619A>T | CA402917977 | ELANE | c.422A>T (p.Gln141Leu)
| |
19 | g.855620G>A | CA504881863 | ELANE | c.423G>A (p.Gln141=)
| gnomAD v4 |
19 | g.855620G>C | CA9026054 | ELANE | c.423G>C (p.Gln141His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855620G= | CA2317361373 | ELANE | c.423G= (p.Gln141=)
| |
19 | g.855620G>T | CA402917981 | ELANE | c.423G>T (p.Gln141His)
| gnomAD v4 |
19 | g.855622del | CA2587805314 | ELANE | c.425del (p.Gly142AspfsTer?)
| gnomAD v4 |
19 | g.855621G>A | CA402917983 | ELANE | c.424G>A (p.Gly142Arg)
| |
19 | g.855621G>C | CA402917984 | ELANE | c.424G>C (p.Gly142Arg)
| |
19 | g.855621G>T | CA402917986 | ELANE | c.424G>T (p.Gly142Ter)
| gnomAD v4 |
19 | g.855622G>A | CA402917988 | ELANE | c.425G>A (p.Gly142Glu)
| |
19 | g.855622G>C | CA402917992 | ELANE | c.425G>C (p.Gly142Ala)
| |
19 | g.855622G>T | CA402917990 | ELANE | c.425G>T (p.Gly142Val)
| gnomAD v4 |
19 | g.855623A= | CA2317361374 | ELANE | c.426A= (p.Gly142=)
| |
19 | g.855623A>C | CA504881865 | ELANE | c.426A>C (p.Gly142=)
| |
19 | g.855623A>G | CA303944760 | ELANE | c.426A>G (p.Gly142=)
| dbSNP |
19 | g.855623A>T | CA504881864 | ELANE | c.426A>T (p.Gly142=)
| |
19 | g.855624C>A | CA402917994 | ELANE | c.427C>A (p.Arg143Ser)
| |
19 | g.855624C= | CA2317361375 | ELANE | c.427C= (p.Arg143=)
| |
19 | g.855624C>G | CA402917996 | ELANE | c.427C>G (p.Arg143Gly)
| |
19 | g.855624C>T | CA9026055 | ELANE | c.427C>T (p.Arg143Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855628_855630del | CA2587805315 | ELANE | c.431_433del (p.Arg144del)
| gnomAD v4 |
19 | g.855625G>A | CA9026056 | ELANE | c.428G>A (p.Arg143His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855625G>C | CA402918003 | ELANE | c.428G>C (p.Arg143Pro)
| |
19 | g.855625G= | CA2317361376 | ELANE | c.428G= (p.Arg143=)
| |
19 | g.855625G>T | CA9026057 | ELANE | c.428G>T (p.Arg143Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855626C>A | CA504881866 | ELANE | c.429C>A (p.Arg143=)
| dbSNP gnomAD v4 |
19 | g.855626C= | CA2317361377 | ELANE | c.429C= (p.Arg143=)
| |
19 | g.855626C>G | CA504881868 | ELANE | c.429C>G (p.Arg143=)
| |
19 | g.855626C>T | CA504881870 | ELANE | c.429C>T (p.Arg143=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855627C>A | CA402918006 | ELANE | c.430C>A (p.Arg144Ser)
| |
19 | g.855627C= | CA2317361378 | ELANE | c.430C= (p.Arg144=)
| |
19 | g.855627C>G | CA402918008 | ELANE | c.430C>G (p.Arg144Gly)
| |
19 | g.855627C>T | CA9026058 | ELANE | c.430C>T (p.Arg144Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855628G>A | CA9026059 | ELANE | c.431G>A (p.Arg144His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855628G>C | CA402918014 | ELANE | c.431G>C (p.Arg144Pro)
| |
19 | g.855628G= | CA2317361379 | ELANE | c.431G= (p.Arg144=)
| |
19 | g.855628G>T | CA402918011 | ELANE | c.431G>T (p.Arg144Leu)
| gnomAD v4 |
19 | g.855634_855654dup | CA2573155744 | ELANE | c.437_457dup (p.Leu152_Ala153insGlyAsnGlyValGlnCysLeu)
| ClinVar dbSNP |
19 | g.855629C>A | CA504881872 | ELANE | c.432C>A (p.Arg144=)
| |
19 | g.855629C= | CA2317361380 | ELANE | c.432C= (p.Arg144=)
| |
19 | g.855629C>G | CA504881873 | ELANE | c.432C>G (p.Arg144=)
| |
19 | g.855629C>T | CA504881874 | ELANE | c.432C>T (p.Arg144=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855630C>A | CA402918015 | ELANE | c.433C>A (p.Leu145Met)
| |
19 | g.855630C= | CA2317361381 | ELANE | c.433C= (p.Leu145=)
| |
19 | g.855630C>G | CA402918016 | ELANE | c.433C>G (p.Leu145Val)
| gnomAD v4 |
19 | g.855630C>T | CA9026060 | ELANE | c.433C>T (p.Leu145=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855631T>A | CA402918018 | ELANE | c.434T>A (p.Leu145Gln)
| |
19 | g.855631T>C | CA402918021 | ELANE | c.434T>C (p.Leu145Pro)
| |
19 | g.855631T>G | CA402918023 | ELANE | c.434T>G (p.Leu145Arg)
| |
19 | g.855632G>A | CA504881878 | ELANE | c.435G>A (p.Leu145=)
| |
19 | g.855632G>C | CA303944780 | ELANE | c.435G>C (p.Leu145=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855632G= | CA2317361382 | ELANE | c.435G= (p.Leu145=)
| |
19 | g.855632G>T | CA504881879 | ELANE | c.435G>T (p.Leu145=)
| gnomAD v4 |
19 | g.855634del | CA2587805316 | ELANE | c.437del (p.Gly146AlafsTer29)
| gnomAD v4 |
19 | g.855633G>A | CA402918029 | ELANE | c.436G>A (p.Gly146Ser)
| |
19 | g.855633G>C | CA402918025 | ELANE | c.436G>C (p.Gly146Arg)
| |
19 | g.855633G>T | CA402918028 | ELANE | c.436G>T (p.Gly146Cys)
| gnomAD v4 |
19 | g.855634G>A | CA10583961 | ELANE | c.437G>A (p.Gly146Asp)
| ClinVar dbSNP gnomAD v4 |
19 | g.855634G>C | CA402918033 | ELANE | c.437G>C (p.Gly146Ala)
| |
19 | g.855634G= | CA2317361383 | ELANE | c.437G= (p.Gly146=)
| |
19 | g.855634G>T | CA402918035 | ELANE | c.437G>T (p.Gly146Val)
| |
19 | g.855635C>A | CA9026062 | ELANE | c.438C>A (p.Gly146=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855635C= | CA2317361384 | ELANE | c.438C= (p.Gly146=)
| |
19 | g.855635C>G | CA504881882 | ELANE | c.438C>G (p.Gly146=)
| |
19 | g.855635C>T | CA9026061 | ELANE | c.438C>T (p.Gly146=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855636A>C | CA402918042 | ELANE | c.439A>C (p.Asn147His)
| |
19 | g.855636A>G | CA402918047 | ELANE | c.439A>G (p.Asn147Asp)
| |
19 | g.855636A>T | CA402918045 | ELANE | c.439A>T (p.Asn147Tyr)
| |
19 | g.855637A= | CA2317361385 | ELANE | c.440A= (p.Asn147=)
| |
19 | g.855637A>C | CA402918049 | ELANE | c.440A>C (p.Asn147Thr)
| |
19 | g.855637A>G | CA402918052 | ELANE | c.440A>G (p.Asn147Ser)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855637A>T | CA402918054 | ELANE | c.440A>T (p.Asn147Ile)
| dbSNP |
19 | g.855638C>A | CA402918058 | ELANE | c.441C>A (p.Asn147Lys)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855638C= | CA2317361386 | ELANE | c.441C= (p.Asn147=)
| |
19 | g.855638C>G | CA402918061 | ELANE | c.441C>G (p.Asn147Lys)
| ClinVar |
19 | g.855638C>T | CA9026063 | ELANE | c.441C>T (p.Asn147=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855639G>A | CA9026064 | ELANE | c.442G>A (p.Gly148Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855639G>C | CA402918066 | ELANE | c.442G>C (p.Gly148Arg)
| gnomAD v4 |
19 | g.855639G= | CA2317361387 | ELANE | c.442G= (p.Gly148=)
| |
19 | g.855639G>T | CA402918069 | ELANE | c.442G>T (p.Gly148Trp)
| dbSNP gnomAD v4 |
19 | g.855640G>A | CA402918072 | ELANE | c.443G>A (p.Gly148Glu)
| ClinVar dbSNP gnomAD v2 |
19 | g.855640G>C | CA402918074 | ELANE | c.443G>C (p.Gly148Ala)
| |
19 | g.855640G= | CA2317361388 | ELANE | c.443G= (p.Gly148=)
| |
19 | g.855640G>T | CA402918077 | ELANE | c.443G>T (p.Gly148Val)
| gnomAD v4 |
19 | g.855641G>A | CA504881887 | ELANE | c.444G>A (p.Gly148=)
| gnomAD v4 |
19 | g.855641G>C | CA504881888 | ELANE | c.444G>C (p.Gly148=)
| |
19 | g.855641G>T | CA504881889 | ELANE | c.444G>T (p.Gly148=)
| gnomAD v4 |
19 | g.855642G>A | CA402918082 | ELANE | c.445G>A (p.Val149Met)
| gnomAD v4 |
19 | g.855642G>C | CA402918084 | ELANE | c.445G>C (p.Val149Leu)
| gnomAD v4 |
19 | g.855642G>T | CA402918080 | ELANE | c.445G>T (p.Val149Leu)
| gnomAD v4 |
19 | g.855643T>A | CA402918087 | ELANE | c.446T>A (p.Val149Glu)
| |
19 | g.855643T>C | CA402918092 | ELANE | c.446T>C (p.Val149Ala)
| |
19 | g.855643T>G | CA402918090 | ELANE | c.446T>G (p.Val149Gly)
| |
19 | g.855644G>A | CA504881895 | ELANE | c.447G>A (p.Val149=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855644G>C | CA504881894 | ELANE | c.447G>C (p.Val149=)
| |
19 | g.855644G= | CA2317361389 | ELANE | c.447G= (p.Val149=)
| |
19 | g.855644G>T | CA504881892 | ELANE | c.447G>T (p.Val149=)
| gnomAD v4 |
19 | g.855645C>A | CA402918095 | ELANE | c.448C>A (p.Gln150Lys)
| |
19 | g.855645C= | CA2317361390 | ELANE | c.448C= (p.Gln150=)
| |
19 | g.855645C>G | CA402918101 | ELANE | c.448C>G (p.Gln150Glu)
| COSMIC |
19 | g.855645C>T | CA402918098 | ELANE | c.448C>T (p.Gln150Ter)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855646A>C | CA402918103 | ELANE | c.449A>C (p.Gln150Pro)
| gnomAD v4 |
19 | g.855646A>G | CA402918107 | ELANE | c.449A>G (p.Gln150Arg)
| |
19 | g.855646A>T | CA402918105 | ELANE | c.449A>T (p.Gln150Leu)
| |
19 | g.855647G>A | CA9026065 | ELANE | c.450G>A (p.Gln150=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855647G>C | CA402918110 | ELANE | c.450G>C (p.Gln150His)
| gnomAD v4 |
19 | g.855647G= | CA2317361391 | ELANE | c.450G= (p.Gln150=)
| |
19 | g.855647G>T | CA402918109 | ELANE | c.450G>T (p.Gln150His)
| gnomAD v4 |
19 | g.855648_855649dup | CA2587805317 | ELANE | c.451_452dup (p.Leu152AlafsTer24)
| gnomAD v4 |
19 | g.855648T>A | CA402918114 | ELANE | c.451T>A (p.Cys151Ser)
| |
19 | g.855648T>C | CA402918115 | ELANE | c.451T>C (p.Cys151Arg)
| |
19 | g.855648T>G | CA402918117 | ELANE | c.451T>G (p.Cys151Gly)
| |
19 | g.855649G>A | CA303944794 | ELANE | c.452G>A (p.Cys151Tyr)
| ClinVar dbSNP gnomAD v2 |
19 | g.855649G>C | CA402918122 | ELANE | c.452G>C (p.Cys151Ser)
| ClinVar dbSNP |
19 | g.855649G= | CA2317361392 | ELANE | c.452G= (p.Cys151=)
| |
19 | g.855649G>T | CA10583962 | ELANE | c.452G>T (p.Cys151Phe)
| ClinVar dbSNP gnomAD v4 |
19 | g.855650C>A | CA402918126 | ELANE | c.453C>A (p.Cys151Ter)
| gnomAD v4 |
19 | g.855650C= | CA2317361393 | ELANE | c.453C= (p.Cys151=)
| |
19 | g.855650C>G | CA402918128 | ELANE | c.453C>G (p.Cys151Trp)
| |
19 | g.855650C>T | CA504881899 | ELANE | c.453C>T (p.Cys151=)
| ClinVar dbSNP gnomAD v4 |
19 | g.855651del | CA2587805318 | ELANE | c.454del (p.Leu152TrpfsTer23)
| gnomAD v4 |
19 | g.855651C>A | CA402918130 | ELANE | c.454C>A (p.Leu152Met)
| |
19 | g.855651C= | CA2317361394 | ELANE | c.454C= (p.Leu152=)
| |
19 | g.855651C>G | CA402918132 | ELANE | c.454C>G (p.Leu152Val)
| |
19 | g.855651C>T | CA9026066 | ELANE | c.454C>T (p.Leu152=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855652T>A | CA402918140 | ELANE | c.455T>A (p.Leu152Gln)
| |
19 | g.855652T>C | CA402918135 | ELANE | c.455T>C (p.Leu152Pro)
| |
19 | g.855652T>G | CA402918137 | ELANE | c.455T>G (p.Leu152Arg)
| |
19 | g.855653G>A | CA9026067 | ELANE | c.456G>A (p.Leu152=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855653G>C | CA504881902 | ELANE | c.456G>C (p.Leu152=)
| |
19 | g.855653G= | CA2317361395 | ELANE | c.456G= (p.Leu152=)
| |
19 | g.855653G>T | CA504881903 | ELANE | c.456G>T (p.Leu152=)
| gnomAD v4 |
19 | g.855654del | CA2839628022 | ELANE | c.457del (p.Ala153ProfsTer22)
| |
19 | g.855654G>A | CA402918144 | ELANE | c.457G>A (p.Ala153Thr)
| gnomAD v4 |
19 | g.855654G>C | CA402918145 | ELANE | c.457G>C (p.Ala153Pro)
| ClinVar |
19 | g.855654G>T | CA402918146 | ELANE | c.457G>T (p.Ala153Ser)
| gnomAD v4 |
19 | g.855655C>A | CA402918149 | ELANE | c.458C>A (p.Ala153Asp)
| ClinVar |
19 | g.855655C>G | CA402918151 | ELANE | c.458C>G (p.Ala153Gly)
| |
19 | g.855655C>T | CA402918154 | ELANE | c.458C>T (p.Ala153Val)
| gnomAD v4 |
19 | g.855656C>A | CA504881905 | ELANE | c.459C>A (p.Ala153=)
| gnomAD v4 |
19 | g.855656C= | CA2317361396 | ELANE | c.459C= (p.Ala153=)
| |
19 | g.855656C>G | CA504881906 | ELANE | c.459C>G (p.Ala153=)
| |
19 | g.855656C>T | CA504881908 | ELANE | c.459C>T (p.Ala153=)
| dbSNP |
19 | g.855657A>C | CA402918156 | ELANE | c.460A>C (p.Met154Leu)
| |
19 | g.855657A>G | CA402918159 | ELANE | c.460A>G (p.Met154Val)
| |
19 | g.855657A>T | CA402918163 | ELANE | c.460A>T (p.Met154Leu)
| |
19 | g.855658T>A | CA402918173 | ELANE | c.461T>A (p.Met154Lys)
| |
19 | g.855658T>C | CA402918172 | ELANE | c.461T>C (p.Met154Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855658T>G | CA402918170 | ELANE | c.461T>G (p.Met154Arg)
| ClinVar dbSNP |
19 | g.855658T= | CA2317361397 | ELANE | c.461T= (p.Met154=)
| |
19 | g.855659G>A | CA402918175 | ELANE | c.462G>A (p.Met154Ile)
| gnomAD v4 |
19 | g.855659G>C | CA402918176 | ELANE | c.462G>C (p.Met154Ile)
| |
19 | g.855659G= | CA2317361398 | ELANE | c.462G= (p.Met154=)
| |
19 | g.855659G>T | CA402918179 | ELANE | c.462G>T (p.Met154Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855660G>A | CA402918181 | ELANE | c.463G>A (p.Gly155Ser)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855660G>C | CA402918183 | ELANE | c.463G>C (p.Gly155Arg)
| |
19 | g.855660G= | CA2317361399 | ELANE | c.463G= (p.Gly155=)
| |
19 | g.855660G>T | CA402918186 | ELANE | c.463G>T (p.Gly155Cys)
| gnomAD v4 |
19 | g.855661G>A | CA402918190 | ELANE | c.464G>A (p.Gly155Asp)
| gnomAD v4 |
19 | g.855661G>C | CA402918192 | ELANE | c.464G>C (p.Gly155Ala)
| COSMIC |
19 | g.855661G>T | CA402918195 | ELANE | c.464G>T (p.Gly155Val)
| gnomAD v4 |
19 | g.855662C>A | CA504881912 | ELANE | c.465C>A (p.Gly155=)
| |
19 | g.855662C>G | CA504881913 | ELANE | c.465C>G (p.Gly155=)
| |
19 | g.855662C>T | CA504881914 | ELANE | c.465C>T (p.Gly155=)
| gnomAD v4 |
19 | g.855662_855685delinsCTGGGGCCTTCTGGGCAGGAACCG | CA2317361400 | ELANE | c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG (p.Gly155=)
| |