19 | g.855509_855526dup | CA2587805284 | ELANE | c.367-55_367-38dup (n.367-55_367-38dup)
| gnomAD v4 |
19 | g.855518_855520del | CA303944584 | ELANE | c.367-46_367-44del (n.367-46_367-44del)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855518T>C | CA9026023 | ELANE | c.367-46T>C (n.367-46T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855518T= | CA2317361307 | ELANE | c.367-46T= (n.367-46T=)
| |
19 | g.855519C>A | CA2587805292 | ELANE | c.367-45C>A (n.367-45C>A)
| gnomAD v4 |
19 | g.855519C>T | CA2587805291 | ELANE | c.367-45C>T (n.367-45C>T)
| gnomAD v4 |
19 | g.855521C>A | CA2587805293 | ELANE | c.367-43C>A (n.367-43C>A)
| gnomAD v4 |
19 | g.855522T>A | CA631295185 | ELANE | c.367-42T>A (n.367-42T>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855522T>C | CA2840296515 | ELANE | c.367-42T>C (n.367-42T>C)
| |
19 | g.855522T= | CA2317361308 | ELANE | c.367-42T= (n.367-42T=)
| |
19 | g.855523G>A | CA2317361310 | ELANE | c.367-41G>A (n.367-41G>A)
| dbSNP |
19 | g.855523G= | CA2317361309 | ELANE | c.367-41G= (n.367-41G=)
| |
19 | g.855523G>T | CA2587805294 | ELANE | c.367-41G>T (n.367-41G>T)
| gnomAD v4 |
19 | g.855523_855524delinsGC | CA2317361311 | ELANE | c.367-41_367-40delinsGC (n.367-41_367-40delinsGC)
| |
19 | g.855524C>A | CA2576540503 | ELANE | c.367-40C>A (n.367-40C>A)
| |
19 | g.855524C= | CA2317361313 | ELANE | c.367-40C= (n.367-40C=)
| |
19 | g.855524C>T | CA9026024 | ELANE | c.367-40C>T (n.367-40C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855527del | CA2317361312 | ELANE | c.367-37del (n.367-37del)
| dbSNP gnomAD v4 |
19 | g.855525C>A | CA2587805295 | ELANE | c.367-39C>A (n.367-39C>A)
| gnomAD v4 |
19 | g.855525C= | CA2317361314 | ELANE | c.367-39C= (n.367-39C=)
| |
19 | g.855525C>T | CA9026025 | ELANE | c.367-39C>T (n.367-39C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855526C>G | CA2517911703 | ELANE | c.367-38C>G (n.367-38C>G)
| gnomAD v4 |
19 | g.855527C>A | CA2587805296 | ELANE | c.367-37C>A (n.367-37C>A)
| gnomAD v4 |
19 | g.855527C= | CA2317361315 | ELANE | c.367-37C= (n.367-37C=)
| |
19 | g.855527C>T | CA9026026 | ELANE | c.367-37C>T (n.367-37C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855528G>A | CA992487298 | ELANE | c.367-36G>A (n.367-36G>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855528G>C | CA2813227117 | ELANE | c.367-36G>C (n.367-36G>C)
| |
19 | g.855528G= | CA2317361316 | ELANE | c.367-36G= (n.367-36G=)
| |
19 | g.855528G>T | CA2587805297 | ELANE | c.367-36G>T (n.367-36G>T)
| gnomAD v4 |
19 | g.855529T>A | CA2576540504 | ELANE | c.367-35T>A (n.367-35T>A)
| |
19 | g.855530G>A | CA631295186 | ELANE | c.367-34G>A (n.367-34G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855530G= | CA2317361317 | ELANE | c.367-34G= (n.367-34G=)
| |
19 | g.855530G>T | CA2840296516 | ELANE | c.367-34G>T (n.367-34G>T)
| |
19 | g.855531T>C | CA657480006 | ELANE | c.367-33T>C (n.367-33T>C)
| COSMIC |
19 | g.855531T>G | CA2839221215 | ELANE | c.367-33T>G (n.367-33T>G)
| |
19 | g.855532G>T | CA2587805298 | ELANE | c.367-32G>T (n.367-32G>T)
| gnomAD v4 |
19 | g.855533A= | CA2317361318 | ELANE | c.367-31A= (n.367-31A=)
| |
19 | g.855533A>G | CA884314818 | ELANE | c.367-31A>G (n.367-31A>G)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855534C= | CA2317361320 | ELANE | c.367-30C= (n.367-30C=)
| |
19 | g.855534C>G | CA2317361319 | ELANE | c.367-30C>G (n.367-30C>G)
| dbSNP gnomAD v4 |
19 | g.855534C>T | CA9026027 | ELANE | c.367-30C>T (n.367-30C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855535G>A | CA9026028 | ELANE | c.367-29G>A (n.367-29G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855535G>C | CA2587805299 | ELANE | c.367-29G>C (n.367-29G>C)
| gnomAD v4 |
19 | g.855535G= | CA2317361321 | ELANE | c.367-29G= (n.367-29G=)
| |
19 | g.855535G>T | CA2576540505 | ELANE | c.367-29G>T (n.367-29G>T)
| gnomAD v4 |
19 | g.855536C= | CA2317361322 | ELANE | c.367-28C= (n.367-28C=)
| |
19 | g.855536C>G | CA9026030 | ELANE | c.367-28C>G (n.367-28C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855536C>T | CA9026029 | ELANE | c.367-28C>T (n.367-28C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855537G>A | CA631295187 | ELANE | c.367-27G>A (n.367-27G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855537G= | CA2317361323 | ELANE | c.367-27G= (n.367-27G=)
| |
19 | g.855537G>T | CA9026031 | ELANE | c.367-27G>T (n.367-27G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855538C>A | CA2587805300 | ELANE | c.367-26C>A (n.367-26C>A)
| gnomAD v4 |
19 | g.855538C>T | CA2840296517 | ELANE | c.367-26C>T (n.367-26C>T)
| |
19 | g.855539T>C | CA2735524955 | ELANE | c.367-25T>C (n.367-25T>C)
| dbSNP |
19 | g.855540G>A | CA2840296518 | ELANE | c.367-24G>A (n.367-24G>A)
| |
19 | g.855540G>T | CA2587805301 | ELANE | c.367-24G>T (n.367-24G>T)
| gnomAD v4 |
19 | g.855541A>G | CA2587805302 | ELANE | c.367-23A>G (n.367-23A>G)
| gnomAD v4 |
19 | g.855542C= | CA2317361324 | ELANE | c.367-22C= (n.367-22C=)
| |
19 | g.855542C>G | CA2317361325 | ELANE | c.367-22C>G (n.367-22C>G)
| dbSNP |
19 | g.855542C>T | CA9026032 | ELANE | c.367-22C>T (n.367-22C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.855543G>A | CA303944645 | ELANE | c.367-21G>A (n.367-21G>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855543G>C | CA2576540506 | ELANE | c.367-21G>C (n.367-21G>C)
| |
19 | g.855543G= | CA2317361326 | ELANE | c.367-21G= (n.367-21G=)
| |
19 | g.855543G>T | CA884314827 | ELANE | c.367-21G>T (n.367-21G>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855545T>C | CA9026033 | ELANE | c.367-19T>C (n.367-19T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855545T= | CA2317361327 | ELANE | c.367-19T= (n.367-19T=)
| |
19 | g.855546C= | CA2317361328 | ELANE | c.367-18C= (n.367-18C=)
| |
19 | g.855546C>G | CA2587805303 | ELANE | c.367-18C>G (n.367-18C>G)
| gnomAD v4 |
19 | g.855546C>T | CA303944658 | ELANE | c.367-18C>T (n.367-18C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855547T>C | CA2587805304 | ELANE | c.367-17T>C (n.367-17T>C)
| gnomAD v4 |
19 | g.855548G>A | CA658799087 | ELANE | c.367-16G>A (n.367-16G>A)
| ClinVar dbSNP |
19 | g.855548G= | CA2317361329 | ELANE | c.367-16G= (n.367-16G=)
| |
19 | g.855548G>T | CA2587805305 | ELANE | c.367-16G>T (n.367-16G>T)
| gnomAD v4 |
19 | g.855549T>A | CA2813227118 | ELANE | c.367-15T>A (n.367-15T>A)
| |
19 | g.855549T>C | CA657480007 | ELANE | c.367-15T>C (n.367-15T>C)
| dbSNP COSMIC |
19 | g.855549T= | CA2317361330 | ELANE | c.367-15T= (n.367-15T=)
| |
19 | g.855550C>A | CA2840296519 | ELANE | c.367-14C>A (n.367-14C>A)
| |
19 | g.855551C= | CA2317361331 | ELANE | c.367-13C= (n.367-13C=)
| |
19 | g.855551C>T | CA631295188 | ELANE | c.367-13C>T (n.367-13C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855552C>A | CA884314837 | ELANE | c.367-12C>A (n.367-12C>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855552C= | CA2317361332 | ELANE | c.367-12C= (n.367-12C=)
| |
19 | g.855552C>T | CA2580096962 | ELANE | c.367-12C>T (n.367-12C>T)
| ClinVar dbSNP gnomAD v4 |
19 | g.855553C>A | CA2838197207 | ELANE | c.367-11C>A (n.367-11C>A)
| |
19 | g.855553C>T | CA2573155743 | ELANE | c.367-11C>T (n.367-11C>T)
| ClinVar dbSNP |
19 | g.855554_855555dup | CA9026034 | ELANE | c.367-10_367-9dup (n.367-10_367-9dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855554A= | CA2317361333 | ELANE | c.367-10A= (n.367-10A=)
| |
19 | g.855554A>C | CA2317361334 | ELANE | c.367-10A>C (n.367-10A>C)
| dbSNP |
19 | g.855554A>G | CA2587805306 | ELANE | c.367-10A>G (n.367-10A>G)
| gnomAD v4 |
19 | g.855555C>T | CA2587805307 | ELANE | c.367-9C>T (n.367-9C>T)
| gnomAD v4 |
19 | g.855556C>A | CA501167 | ELANE | c.367-8C>A (n.367-8C>A)
| ClinVar dbSNP gnomAD v4 |
19 | g.855556C= | CA2317361335 | ELANE | c.367-8C= (n.367-8C=)
| |
19 | g.855556C>G | CA631295189 | ELANE | c.367-8C>G (n.367-8C>G)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855556C>T | CA9026035 | ELANE | c.367-8C>T (n.367-8C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855557G>A | CA9026036 | ELANE | c.367-7G>A (n.367-7G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855557G= | CA2317361336 | ELANE | c.367-7G= (n.367-7G=)
| |
19 | g.855557G>T | CA2576540507 | ELANE | c.367-7G>T (n.367-7G>T)
| gnomAD v4 |
19 | g.855559C>A | CA2587805308 | ELANE | c.367-5C>A (n.367-5C>A)
| gnomAD v4 |
19 | g.855560A>G | CA2519541806 | ELANE | c.367-4A>G (n.367-4A>G)
| |
19 | g.855560A>T | CA2838197208 | ELANE | c.367-4A>T (n.367-4A>T)
| |
19 | g.855561C= | CA2317361337 | ELANE | c.367-3C= (n.367-3C=)
| |
19 | g.855561C>T | CA303944666 | ELANE | c.367-3C>T (n.367-3C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
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=)
| |