19 | g.855734_855760del | CA2582342341 | ELANE | c.537_563del (p.Leu180_Thr188del)
| ClinVar |
19 | g.855737_855738dup | CA2695227795 | ELANE | c.540_541dup (p.Cys181SerfsTer11)
| |
19 | g.855736T>A | CA402918602 | ELANE | c.539T>A (p.Leu180His)
| |
19 | g.855736T>C | CA402918605 | ELANE | c.539T>C (p.Leu180Pro)
| gnomAD v4 |
19 | g.855736T>G | CA402918607 | ELANE | c.539T>G (p.Leu180Arg)
| |
19 | g.855737C>A | CA504881983 | ELANE | c.540C>A (p.Leu180=)
| |
19 | g.855737C= | CA2317361444 | ELANE | c.540C= (p.Leu180=)
| |
19 | g.855737C>G | CA303944912 | ELANE | c.540C>G (p.Leu180=)
| ClinVar dbSNP |
19 | g.855737C>T | CA504881984 | ELANE | c.540C>T (p.Leu180=)
| |
19 | g.855738T>A | CA402918611 | ELANE | c.541T>A (p.Cys181Ser)
| |
19 | g.855738T>C | CA402918612 | ELANE | c.541T>C (p.Cys181Arg)
| |
19 | g.855738T>G | CA402918615 | ELANE | c.541T>G (p.Cys181Gly)
| |
19 | g.855739G>A | CA402918620 | ELANE | c.542G>A (p.Cys181Tyr)
| ClinVar |
19 | g.855739G>C | CA402918619 | ELANE | c.542G>C (p.Cys181Ser)
| |
19 | g.855739G>T | CA402918617 | ELANE | c.542G>T (p.Cys181Phe)
| gnomAD v4 |
19 | g.855740C>A | CA402918622 | ELANE | c.543C>A (p.Cys181Ter)
| |
19 | g.855740C>G | CA402918623 | ELANE | c.543C>G (p.Cys181Trp)
| |
19 | g.855740C>T | CA504881986 | ELANE | c.543C>T (p.Cys181=)
| gnomAD v4 |
19 | g.855741del | CA2573054848 | ELANE | c.544del (p.Arg182ValfsTer9)
| ClinVar dbSNP |
19 | g.855741C>A | CA402918625 | ELANE | c.544C>A (p.Arg182Ser)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855741C= | CA2317361445 | ELANE | c.544C= (p.Arg182=)
| |
19 | g.855741C>G | CA402918626 | ELANE | c.544C>G (p.Arg182Gly)
| |
19 | g.855741C>T | CA402918628 | ELANE | c.544C>T (p.Arg182Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855742del | CA2695227796 | ELANE | c.545del (p.Arg182LeufsTer9)
| |
19 | g.855742G>A | CA303944927 | ELANE | c.545G>A (p.Arg182His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855742G>C | CA402918632 | ELANE | c.545G>C (p.Arg182Pro)
| |
19 | g.855742G= | CA2317361446 | ELANE | c.545G= (p.Arg182=)
| |
19 | g.855742G>T | CA402918631 | ELANE | c.545G>T (p.Arg182Leu)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855743T>A | CA504881987 | ELANE | c.546T>A (p.Arg182=)
| |
19 | g.855743T>C | CA504881988 | ELANE | c.546T>C (p.Arg182=)
| |
19 | g.855743T>G | CA504881990 | ELANE | c.546T>G (p.Arg182=)
| gnomAD v4 |
19 | g.855744C>A | CA402918634 | ELANE | c.547C>A (p.Arg183Ser)
| gnomAD v4 |
19 | g.855744C= | CA2317361447 | ELANE | c.547C= (p.Arg183=)
| |
19 | g.855744C>G | CA402918636 | ELANE | c.547C>G (p.Arg183Gly)
| gnomAD v4 |
19 | g.855744C>T | CA402918637 | ELANE | c.547C>T (p.Arg183Cys)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855745G>A | CA402918639 | ELANE | c.548G>A (p.Arg183His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855745G>C | CA402918641 | ELANE | c.548G>C (p.Arg183Pro)
| |
19 | g.855745G= | CA2317361448 | ELANE | c.548G= (p.Arg183=)
| |
19 | g.855745G>T | CA402918643 | ELANE | c.548G>T (p.Arg183Leu)
| gnomAD v4 |
19 | g.855746C>A | CA504881994 | ELANE | c.549C>A (p.Arg183=)
| |
19 | g.855746C>G | CA504881992 | ELANE | c.549C>G (p.Arg183=)
| |
19 | g.855746C>T | CA504881991 | ELANE | c.549C>T (p.Arg183=)
| gnomAD v4 |
19 | g.855747A= | CA2317361449 | ELANE | c.550A= (p.Ser184=)
| |
19 | g.855747A>C | CA402918644 | ELANE | c.550A>C (p.Ser184Arg)
| ClinVar dbSNP |
19 | g.855747A>G | CA402918648 | ELANE | c.550A>G (p.Ser184Gly)
| |
19 | g.855747A>T | CA402918645 | ELANE | c.550A>T (p.Ser184Cys)
| |
19 | g.855748G>A | CA402918649 | ELANE | c.551G>A (p.Ser184Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855748G>C | CA402918650 | ELANE | c.551G>C (p.Ser184Thr)
| |
19 | g.855748G= | CA2317361450 | ELANE | c.551G= (p.Ser184=)
| |
19 | g.855748G>T | CA402918652 | ELANE | c.551G>T (p.Ser184Ile)
| gnomAD v4 |
19 | g.855749C>A | CA402918654 | ELANE | c.552C>A (p.Ser184Arg)
| |
19 | g.855749C= | CA2317361451 | ELANE | c.552C= (p.Ser184=)
| |
19 | g.855749C>G | CA402918656 | ELANE | c.552C>G (p.Ser184Arg)
| |
19 | g.855749C>T | CA9026088 | ELANE | c.552C>T (p.Ser184=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855750A>C | CA402918659 | ELANE | c.553A>C (p.Asn185His)
| |
19 | g.855750A>G | CA402918661 | ELANE | c.553A>G (p.Asn185Asp)
| |
19 | g.855750A>T | CA402918662 | ELANE | c.553A>T (p.Asn185Tyr)
| |
19 | g.855751A>C | CA402918664 | ELANE | c.554A>C (p.Asn185Thr)
| |
19 | g.855751A>G | CA402918665 | ELANE | c.554A>G (p.Asn185Ser)
| |
19 | g.855751A>T | CA402918667 | ELANE | c.554A>T (p.Asn185Ile)
| |
19 | g.855752C>A | CA402918669 | ELANE | c.555C>A (p.Asn185Lys)
| |
19 | g.855752C= | CA2317361452 | ELANE | c.555C= (p.Asn185=)
| |
19 | g.855752C>G | CA402918671 | ELANE | c.555C>G (p.Asn185Lys)
| |
19 | g.855752C>T | CA9026089 | ELANE | c.555C>T (p.Asn185=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.855753G>A | CA9026090 | ELANE | c.556G>A (p.Val186Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.855753G>C | CA402918672 | ELANE | c.556G>C (p.Val186Leu)
| |
19 | g.855753G= | CA2317361453 | ELANE | c.556G= (p.Val186=)
| |
19 | g.855753G>T | CA402918673 | ELANE | c.556G>T (p.Val186Phe)
| |
19 | g.855754T>A | CA402918675 | ELANE | c.557T>A (p.Val186Asp)
| dbSNP gnomAD v4 |
19 | g.855754T>C | CA402918679 | ELANE | c.557T>C (p.Val186Ala)
| |
19 | g.855754T>G | CA402918680 | ELANE | c.557T>G (p.Val186Gly)
| gnomAD v4 |
19 | g.855754T= | CA2317361454 | ELANE | c.557T= (p.Val186=)
| |
19 | g.855755C>A | CA10583964 | ELANE | c.558C>A (p.Val186=)
| ClinVar dbSNP |
19 | g.855755C= | CA2317361455 | ELANE | c.558C= (p.Val186=)
| |
19 | g.855755C>G | CA504882001 | ELANE | c.558C>G (p.Val186=)
| |
19 | g.855755C>T | CA504882003 | ELANE | c.558C>T (p.Val186=)
| |
19 | g.855756T>A | CA402918684 | ELANE | c.559T>A (p.Cys187Ser)
| |
19 | g.855756T>C | CA402918685 | ELANE | c.559T>C (p.Cys187Arg)
| |
19 | g.855756T>G | CA402918686 | ELANE | c.559T>G (p.Cys187Gly)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855756T= | CA2317361456 | ELANE | c.559T= (p.Cys187=)
| |
19 | g.855757G>A | CA402918689 | ELANE | c.560G>A (p.Cys187Tyr)
| gnomAD v4 COSMIC |
19 | g.855757G>C | CA402918687 | ELANE | c.560G>C (p.Cys187Ser)
| |
19 | g.855757G>T | CA402918688 | ELANE | c.560G>T (p.Cys187Phe)
| gnomAD v4 |
19 | g.855758C>A | CA281501 | ELANE | c.561C>A (p.Cys187Ter)
| ClinVar dbSNP gnomAD v4 |
19 | g.855758C= | CA2317361457 | ELANE | c.561C= (p.Cys187=)
| |
19 | g.855758C>G | CA402918692 | ELANE | c.561C>G (p.Cys187Trp)
| |
19 | g.855758C>T | CA504882009 | ELANE | c.561C>T (p.Cys187=)
| gnomAD v4 |
19 | g.855759A= | CA2317361458 | ELANE | c.562A= (p.Thr188=)
| |
19 | g.855759A>C | CA402918694 | ELANE | c.562A>C (p.Thr188Pro)
| |
19 | g.855759A>G | CA303944945 | ELANE | c.562A>G (p.Thr188Ala)
| dbSNP gnomAD v4 |
19 | g.855759A>T | CA402918695 | ELANE | c.562A>T (p.Thr188Ser)
| |
19 | g.855760C>A | CA402918698 | ELANE | c.563C>A (p.Thr188Asn)
| |
19 | g.855760C>G | CA402918701 | ELANE | c.563C>G (p.Thr188Ser)
| |
19 | g.855760C>T | CA402918700 | ELANE | c.563C>T (p.Thr188Ile)
| gnomAD v4 |
19 | g.855761T>A | CA504882014 | ELANE | c.564T>A (p.Thr188=)
| |
19 | g.855761T>C | CA504882016 | ELANE | c.564T>C (p.Thr188=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.855761T>G | CA504882017 | ELANE | c.564T>G (p.Thr188=)
| |
19 | g.855761T= | CA2317361459 | ELANE | c.564T= (p.Thr188=)
| |
19 | g.855762C>A | CA9026092 | ELANE | c.565C>A (p.Leu189Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855762C= | CA2317361460 | ELANE | c.565C= (p.Leu189=)
| |
19 | g.855762C>G | CA402918703 | ELANE | c.565C>G (p.Leu189Val)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855762C>T | CA9026091 | ELANE | c.565C>T (p.Leu189Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855763T>A | CA402918706 | ELANE | c.566T>A (p.Leu189His)
| |
19 | g.855763T>C | CA402918708 | ELANE | c.566T>C (p.Leu189Pro)
| |
19 | g.855763T>G | CA402918709 | ELANE | c.566T>G (p.Leu189Arg)
| |
19 | g.855763dup | CA2740091833 | ELANE | c.566dup (p.Val190ArgfsTer?)
| ClinVar |
19 | g.855764C>A | CA9026094 | ELANE | c.567C>A (p.Leu189=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855764C= | CA2317361461 | ELANE | c.567C= (p.Leu189=)
| |
19 | g.855764C>G | CA504882019 | ELANE | c.567C>G (p.Leu189=)
| ClinVar dbSNP |
19 | g.855764C>T | CA9026093 | ELANE | c.567C>T (p.Leu189=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855765G>A | CA10583963 | ELANE | c.568G>A (p.Val190Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855765G>C | CA9026095 | ELANE | c.568G>C (p.Val190Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855765G= | CA2317361462 | ELANE | c.568G= (p.Val190=)
| |
19 | g.855765G>T | CA402918715 | ELANE | c.568G>T (p.Val190Leu)
| gnomAD v4 |
19 | g.855766T>A | CA402918717 | ELANE | c.569T>A (p.Val190Glu)
| |
19 | g.855766T>C | CA402918720 | ELANE | c.569T>C (p.Val190Ala)
| |
19 | g.855766T>G | CA402918718 | ELANE | c.569T>G (p.Val190Gly)
| ClinVar dbSNP gnomAD v4 |
19 | g.855766T= | CA2317361463 | ELANE | c.569T= (p.Val190=)
| |
19 | g.855767G>A | CA504882020 | ELANE | c.570G>A (p.Val190=)
| ClinVar |
19 | g.855767G>C | CA504882021 | ELANE | c.570G>C (p.Val190=)
| |
19 | g.855767G>T | CA504882022 | ELANE | c.570G>T (p.Val190=)
| |
19 | g.855768A>C | CA504882023 | ELANE | c.571A>C (p.Arg191=)
| |
19 | g.855768A>G | CA402918721 | ELANE | c.571A>G (p.Arg191Gly)
| |
19 | g.855768A>T | CA402918723 | ELANE | c.571A>T (p.Arg191Trp)
| |
19 | g.855768dup | CA2587805320 | ELANE | c.571dup (p.Arg191LysfsTer?)
| gnomAD v4 |
19 | g.855771_855780del | CA2573054849 | ELANE | c.574_583del (p.Gly192ProfsTer17)
| ClinVar dbSNP |
19 | g.855769G>A | CA402918725 | ELANE | c.572G>A (p.Arg191Lys)
| |
19 | g.855769G>C | CA402918727 | ELANE | c.572G>C (p.Arg191Thr)
| |
19 | g.855769G>T | CA402918729 | ELANE | c.572G>T (p.Arg191Met)
| |
19 | g.855770G>A | CA504882026 | ELANE | c.573G>A (p.Arg191=)
| COSMIC |
19 | g.855770G>C | CA9026096 | ELANE | c.573G>C (p.Arg191Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855770G= | CA2317361464 | ELANE | c.573G= (p.Arg191=)
| |
19 | g.855770G>T | CA402918731 | ELANE | c.573G>T (p.Arg191Ser)
| ClinVar dbSNP gnomAD v4 |
19 | g.855771G>A | CA402918733 | ELANE | c.574G>A (p.Gly192Ser)
| gnomAD v4 |
19 | g.855771G>C | CA402918734 | ELANE | c.574G>C (p.Gly192Arg)
| dbSNP |
19 | g.855771G= | CA2317361465 | ELANE | c.574G= (p.Gly192=)
| |
19 | g.855771G>T | CA402918736 | ELANE | c.574G>T (p.Gly192Cys)
| |
19 | g.855778_855785dup | CA2695227797 | ELANE | c.581_588dup (p.Val197ArgfsTer18)
| |
19 | g.855772_855786del | CA2695227798 | ELANE | c.575_589del (p.Gly192_Gly196del)
| |
19 | g.855772G>A | CA303944963 | ELANE | c.575G>A (p.Gly192Asp)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855772G>C | CA402918739 | ELANE | c.575G>C (p.Gly192Ala)
| gnomAD v4 |
19 | g.855772G= | CA2317361466 | ELANE | c.575G= (p.Gly192=)
| |
19 | g.855772G>T | CA402918740 | ELANE | c.575G>T (p.Gly192Val)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855773C>A | CA303944972 | ELANE | c.576C>A (p.Gly192=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855773C= | CA2317361467 | ELANE | c.576C= (p.Gly192=)
| |
19 | g.855773C>G | CA504882032 | ELANE | c.576C>G (p.Gly192=)
| |
19 | g.855773C>T | CA504882030 | ELANE | c.576C>T (p.Gly192=)
| gnomAD v4 |
19 | g.855773_855784delinsCCGGCAGGCCGG | CA2317361468 | ELANE | c.576_587delinsCCGGCAGGCCGG (p.Gly192=)
| |
19 | g.855774_855788del | CA2587805321 | ELANE | c.577_591del (p.Arg193_Val197del)
| gnomAD v4 |
19 | g.855774C>A | CA504882033 | ELANE | c.577C>A (p.Arg193=)
| |
19 | g.855774C= | CA2317361469 | ELANE | c.577C= (p.Arg193=)
| |
19 | g.855774C>G | CA402918742 | ELANE | c.577C>G (p.Arg193Gly)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855774C>T | CA303944983 | ELANE | c.577C>T (p.Arg193Trp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.855775_855781del | CA2695227799 | ELANE | c.578_584del (p.Arg193ProfsTer17)
| |
19 | g.855776_855786del | CA884315422 | ELANE | c.579_589del (p.Gln194LeufsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855775G>A | CA9026097 | ELANE | c.578G>A (p.Arg193Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.855775G>C | CA402918745 | ELANE | c.578G>C (p.Arg193Pro)
| |
19 | g.855775G= | CA2317361470 | ELANE | c.578G= (p.Arg193=)
| |
19 | g.855775G>T | CA402918747 | ELANE | c.578G>T (p.Arg193Leu)
| gnomAD v4 COSMIC |
19 | g.855776G>A | CA504882035 | ELANE | c.579G>A (p.Arg193=)
| gnomAD v4 |
19 | g.855776G>C | CA504882036 | ELANE | c.579G>C (p.Arg193=)
| |
19 | g.855776G>T | CA504882037 | ELANE | c.579G>T (p.Arg193=)
| gnomAD v4 |
19 | g.855777C>A | CA402918749 | ELANE | c.580C>A (p.Gln194Lys)
| gnomAD v4 |
19 | g.855777C>G | CA402918750 | ELANE | c.580C>G (p.Gln194Glu)
| |
19 | g.855777C>T | CA402918751 | ELANE | c.580C>T (p.Gln194Ter)
| |
19 | g.855778_855794dup | CA2580096965 | ELANE | c.581_597dup (p.Gly200ArgfsTer18)
| ClinVar |
19 | g.855778A= | CA2317361471 | ELANE | c.581A= (p.Gln194=)
| |
19 | g.855778A>C | CA9026098 | ELANE | c.581A>C (p.Gln194Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855778A>G | CA402918752 | ELANE | c.581A>G (p.Gln194Arg)
| |
19 | g.855778A>T | CA402918753 | ELANE | c.581A>T (p.Gln194Leu)
| ClinVar gnomAD v4 |
19 | g.855778_855779delinsAG | CA2317361472 | ELANE | c.581_582delinsAG (p.Gln194=)
| |
19 | g.855778_855779delinsCT | CA16620914 | ELANE | c.581_582delinsCT (p.Gln194Pro)
| ClinVar dbSNP |
19 | g.855779G>A | CA504882041 | ELANE | c.582G>A (p.Gln194=)
| dbSNP |
19 | g.855779G>C | CA402918754 | ELANE | c.582G>C (p.Gln194His)
| dbSNP |
19 | g.855779G= | CA2317361473 | ELANE | c.582G= (p.Gln194=)
| |
19 | g.855779G>T | CA9026099 | ELANE | c.582G>T (p.Gln194His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.855780del | CA2838032067 | ELANE | c.583del (p.Ala195ProfsTer17)
| |
19 | g.855780G>A | CA402918756 | ELANE | c.583G>A (p.Ala195Thr)
| ClinVar gnomAD v4 |
19 | g.855780G>C | CA9026100 | ELANE | c.583G>C (p.Ala195Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855780G= | CA2317361474 | ELANE | c.583G= (p.Ala195=)
| |
19 | g.855780G>T | CA402918755 | ELANE | c.583G>T (p.Ala195Ser)
| gnomAD v4 |
19 | g.855780_855781dup | CA2695227800 | ELANE | c.583_584dup (p.Gly196ProfsTer17)
| |
19 | g.855781C>A | CA402918762 | ELANE | c.584C>A (p.Ala195Asp)
| ClinVar |
19 | g.855781C>G | CA402918758 | ELANE | c.584C>G (p.Ala195Gly)
| ClinVar |
19 | g.855781C>T | CA402918760 | ELANE | c.584C>T (p.Ala195Val)
| gnomAD v4 |
19 | g.855782del | CA2695227801 | ELANE | c.585del (p.Gly196AlafsTer16)
| |
19 | g.855781_855785dup | CA2695227802 | ELANE | c.584_588dup (p.Val197ProfsTer17)
| |
19 | g.855782C>A | CA504882047 | ELANE | c.585C>A (p.Ala195=)
| |
19 | g.855782C= | CA2317361475 | ELANE | c.585C= (p.Ala195=)
| |
19 | g.855782C>G | CA504882049 | ELANE | c.585C>G (p.Ala195=)
| dbSNP gnomAD v4 |
19 | g.855782C>T | CA9026101 | ELANE | c.585C>T (p.Ala195=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855783G>A | CA9026102 | ELANE | c.586G>A (p.Gly196Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.855783G>C | CA402918763 | ELANE | c.586G>C (p.Gly196Arg)
| |
19 | g.855783G= | CA2317361476 | ELANE | c.586G= (p.Gly196=)
| |
19 | g.855783G>T | CA402918765 | ELANE | c.586G>T (p.Gly196Cys)
| gnomAD v4 |
19 | g.855784del | CA2695227803 | ELANE | c.587del (p.Gly196AlafsTer16)
| |
19 | g.855784G>A | CA303945024 | ELANE | c.587G>A (p.Gly196Asp)
| dbSNP |
19 | g.855784G>C | CA402918767 | ELANE | c.587G>C (p.Gly196Ala)
| |
19 | g.855784G= | CA2317361477 | ELANE | c.587G= (p.Gly196=)
| |
19 | g.855784G>T | CA402918768 | ELANE | c.587G>T (p.Gly196Val)
| |
19 | g.855785_855786dup | CA2695227804 | ELANE | c.588_589dup (p.Val197AlafsTer16)
| |
19 | g.855785C>A | CA504882054 | ELANE | c.588C>A (p.Gly196=)
| |
19 | g.855785C= | CA2317361478 | ELANE | c.588C= (p.Gly196=)
| |
19 | g.855785C>G | CA504882055 | ELANE | c.588C>G (p.Gly196=)
| |
19 | g.855785C>T | CA303945036 | ELANE | c.588C>T (p.Gly196=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855786G>A | CA402918770 | ELANE | c.589G>A (p.Val197Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855786G>C | CA402918771 | ELANE | c.589G>C (p.Val197Leu)
| |
19 | g.855786G= | CA2317361479 | ELANE | c.589G= (p.Val197=)
| |
19 | g.855786G>T | CA402918773 | ELANE | c.589G>T (p.Val197Phe)
| gnomAD v4 |
19 | g.855786_855793dup | CA2695227805 | ELANE | c.589_596dup (p.Phe199LeufsTer16)
| |
19 | g.855786_855787insAGGCCGGC | CA2837995229 | ELANE | c.589_590insAGGCCGGC (p.Val197GlufsTer18)
| |
19 | g.855787T>A | CA402918778 | ELANE | c.590T>A (p.Val197Asp)
| |
19 | g.855787T>C | CA402918774 | ELANE | c.590T>C (p.Val197Ala)
| |
19 | g.855787T>G | CA402918776 | ELANE | c.590T>G (p.Val197Gly)
| |
19 | g.855787_855788insTTTTT | CA2695227806 | ELANE | c.590_591insTTTTT (p.Cys198PhefsTer16)
| |
19 | g.855788C>A | CA303945045 | ELANE | c.591C>A (p.Val197=)
| dbSNP gnomAD v4 |
19 | g.855788C= | CA2317361480 | ELANE | c.591C= (p.Val197=)
| |
19 | g.855788C>G | CA504882057 | ELANE | c.591C>G (p.Val197=)
| |
19 | g.855788C>T | CA504882059 | ELANE | c.591C>T (p.Val197=)
| |
19 | g.855789T>A | CA402918780 | ELANE | c.592T>A (p.Cys198Ser)
| |
19 | g.855789T>C | CA402918781 | ELANE | c.592T>C (p.Cys198Arg)
| |
19 | g.855789T>G | CA402918783 | ELANE | c.592T>G (p.Cys198Gly)
| |
19 | g.855790del | CA915940660 | ELANE | c.593del (p.Cys198PhefsTer14)
| |
19 | g.855790G>A | CA402918785 | ELANE | c.593G>A (p.Cys198Tyr)
| |
19 | g.855790G>C | CA402918787 | ELANE | c.593G>C (p.Cys198Ser)
| |
19 | g.855790G>T | CA402918789 | ELANE | c.593G>T (p.Cys198Phe)
| |
19 | g.855791T>A | CA402918790 | ELANE | c.594T>A (p.Cys198Ter)
| |
19 | g.855791T>C | CA504882064 | ELANE | c.594T>C (p.Cys198=)
| dbSNP gnomAD v2 |
19 | g.855791T>G | CA402918792 | ELANE | c.594T>G (p.Cys198Trp)
| |
19 | g.855791T= | CA2317361481 | ELANE | c.594T= (p.Cys198=)
| |
19 | g.855793del | CA2695227807 | ELANE | c.596del (p.Phe199SerfsTer13)
| |
19 | g.855792T>A | CA402918794 | ELANE | c.595T>A (p.Phe199Ile)
| |
19 | g.855792T>C | CA402918796 | ELANE | c.595T>C (p.Phe199Leu)
| |
19 | g.855792T>G | CA402918798 | ELANE | c.595T>G (p.Phe199Val)
| |
19 | g.855793T>A | CA402918802 | ELANE | c.596T>A (p.Phe199Tyr)
| COSMIC |
19 | g.855793T>C | CA402918801 | ELANE | c.596T>C (p.Phe199Ser)
| |
19 | g.855793T>G | CA402918800 | ELANE | c.596T>G (p.Phe199Cys)
| |
19 | g.855794C>A | CA402918805 | ELANE | c.597C>A (p.Phe199Leu)
| |
19 | g.855794C= | CA2317361482 | ELANE | c.597C= (p.Phe199=)
| |
19 | g.855794C>G | CA402918806 | ELANE | c.597C>G (p.Phe199Leu)
| ClinVar |
19 | g.855794C>T | CA9026103 | ELANE | c.597C>T (p.Phe199=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855797_855800del | CA2695227808 | ELANE | c.597+3_597+6del
| |
19 | g.855795G>A | CA10583966 | ELANE | c.597+1G>A (n.597+1G>A)
| ClinVar dbSNP gnomAD v4 |
19 | g.855795G>C | CA10584620 | ELANE | c.597+1G>C (n.597+1G>C)
| ClinVar dbSNP |
19 | g.855795G= | CA2317361483 | ELANE | c.597+1G= (n.597+1G=)
| |
19 | g.855795G>T | CA402918809 | ELANE | c.597+1G>T (n.597+1G>T)
| dbSNP |
19 | g.855796T>A | CA402918811 | ELANE | c.597+2T>A (n.597+2T>A)
| |
19 | g.855796T>C | CA402918812 | ELANE | c.597+2T>C (n.597+2T>C)
| |
19 | g.855796T>G | CA402918813 | ELANE | c.597+2T>G (n.597+2T>G)
| |
19 | g.855797A>T | CA2499225648 | ELANE | c.597+3A>T (n.597+3A>T)
| ClinVar dbSNP |
19 | g.855797_855801delinsACGTG | CA2317361484 | ELANE | c.597+3_597+7delinsACGTG (n.597+3_597+7delinsACGTG)
| |
19 | g.855798C>A | CA631295227 | ELANE | c.597+4C>A (n.597+4C>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855798C= | CA2317361485 | ELANE | c.597+4C= (n.597+4C=)
| |
19 | g.855798C>G | CA631295228 | ELANE | c.597+4C>G (n.597+4C>G)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855798C>T | CA631295229 | ELANE | c.597+4C>T (n.597+4C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855799_855802del | CA1139666167 | ELANE | c.597+5_597+8del (n.597+5_597+8del)
| ClinVar dbSNP |
19 | g.855799G>A | CA10584621 | ELANE | c.597+5G>A (n.597+5G>A)
| ClinVar dbSNP gnomAD v4 |
19 | g.855799G>C | CA2740091834 | ELANE | c.597+5G>C (n.597+5G>C)
| ClinVar |
19 | g.855799G= | CA2317361486 | ELANE | c.597+5G= (n.597+5G=)
| |
19 | g.855799G>T | CA2499225649 | ELANE | c.597+5G>T (n.597+5G>T)
| ClinVar dbSNP |
19 | g.855799dup | CA2840296521 | ELANE | c.597+5dup (n.597+5dup)
| |
19 | g.855800T>G | CA2695227809 | ELANE | c.597+6T>G (n.597+6T>G)
| |
19 | g.855801G>T | CA2587805322 | ELANE | c.597+7G>T (n.597+7G>T)
| gnomAD v4 |
19 | g.855802C>A | CA2735372573 | ELANE | c.597+8C>A (n.597+8C>A)
| dbSNP |
19 | g.855802C= | CA2317361487 | ELANE | c.597+8C= (n.597+8C=)
| |
19 | g.855802C>G | CA2587805323 | ELANE | c.597+8C>G (n.597+8C>G)
| gnomAD v4 |
19 | g.855802C>T | CA884315491 | ELANE | c.597+8C>T (n.597+8C>T)
| dbSNP gnomAD v4 |
19 | g.855803C>A | CA2576540509 | ELANE | c.597+9C>A (n.597+9C>A)
| gnomAD v4 |
19 | g.855803C= | CA2317361488 | ELANE | c.597+9C= (n.597+9C=)
| |
19 | g.855803C>G | CA2576540508 | ELANE | c.597+9C>G (n.597+9C>G)
| gnomAD v4 |
19 | g.855803C>T | CA631295230 | ELANE | c.597+9C>T (n.597+9C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855804C>A | CA9026105 | ELANE | c.597+10C>A (n.597+10C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855804C= | CA2317361489 | ELANE | c.597+10C= (n.597+10C=)
| |
19 | g.855804C>G | CA9026104 | ELANE | c.597+10C>G (n.597+10C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855805T>C | CA2576540510 | ELANE | c.597+11T>C (n.597+11T>C)
| |
19 | g.855806G>C | CA2587805324 | ELANE | c.597+12G>C (n.597+12G>C)
| gnomAD v4 |
19 | g.855806G>T | CA2587805325 | ELANE | c.597+12G>T (n.597+12G>T)
| gnomAD v4 |
19 | g.855808dup | CA2840296522 | ELANE | c.597+14dup (n.597+14dup)
| |
19 | g.855807G>C | CA631295231 | ELANE | c.597+13G>C (n.597+13G>C)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855807G= | CA2317361490 | ELANE | c.597+13G= (n.597+13G=)
| |
19 | g.855808G>A | CA303945081 | ELANE | c.597+14G>A (n.597+14G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855808G= | CA2317361491 | ELANE | c.597+14G= (n.597+14G=)
| |
19 | g.855808G>T | CA2840296523 | ELANE | c.597+14G>T (n.597+14G>T)
| |
19 | g.855810_855811dup | CA2838375959 | ELANE | c.597+16_597+17dup (n.597+16_597+17dup)
| |
19 | g.855809T>C | CA2576540511 | ELANE | c.597+15T>C (n.597+15T>C)
| |
19 | g.855810G>A | CA2587805326 | ELANE | c.597+16G>A (n.597+16G>A)
| gnomAD v4 |
19 | g.855810G>T | CA2587805327 | ELANE | c.597+16G>T (n.597+16G>T)
| gnomAD v4 |
19 | g.855811T>G | CA631295232 | ELANE | c.597+17T>G (n.597+17T>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855811T= | CA2317361492 | ELANE | c.597+17T= (n.597+17T=)
| |
19 | g.855812C= | CA2317361493 | ELANE | c.597+18C= (n.597+18C=)
| |
19 | g.855812C>T | CA884315501 | ELANE | c.597+18C>T (n.597+18C>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855814del | CA2587805328 | ELANE | c.597+20del (n.597+20del)
| gnomAD v4 |
19 | g.855813C>A | CA2839221216 | ELANE | c.597+19C>A (n.597+19C>A)
| |
19 | g.855813C= | CA2317361494 | ELANE | c.597+19C= (n.597+19C=)
| |
19 | g.855813C>G | CA9026106 | ELANE | c.597+19C>G (n.597+19C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855813C>T | CA631295233 | ELANE | c.597+19C>T (n.597+19C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855814C>A | CA2587805329 | ELANE | c.597+20C>A (n.597+20C>A)
| gnomAD v4 |
19 | g.855814C= | CA2317361495 | ELANE | c.597+20C= (n.597+20C=)
| |
19 | g.855814C>T | CA10584622 | ELANE | c.597+20C>T (n.597+20C>T)
| ClinVar dbSNP gnomAD v4 |
19 | g.855818G>A | CA2587805330 | ELANE | c.597+24G>A (n.597+24G>A)
| gnomAD v4 |
19 | g.855818G>C | CA631295234 | ELANE | c.597+24G>C (n.597+24G>C)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855818G= | CA2317361496 | ELANE | c.597+24G= (n.597+24G=)
| |
19 | g.855818G>T | CA2587805331 | ELANE | c.597+24G>T (n.597+24G>T)
| gnomAD v4 |
19 | g.855819C= | CA2317361497 | ELANE | c.597+25C= (n.597+25C=)
| |
19 | g.855819C>T | CA631295235 | ELANE | c.597+25C>T (n.597+25C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855819dup | CA2840296524 | ELANE | c.597+25dup (n.597+25dup)
| |
19 | g.855820T>A | CA2587805332 | ELANE | c.597+26T>A (n.597+26T>A)
| gnomAD v4 |
19 | g.855820T>C | CA9026107 | ELANE | c.597+26T>C (n.597+26T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855820T= | CA2317361498 | ELANE | c.597+26T= (n.597+26T=)
| |
19 | g.855821C>T | CA2587805333 | ELANE | c.597+27C>T (n.597+27C>T)
| gnomAD v4 |
19 | g.855824dup | CA2838375955 | ELANE | c.597+30dup (n.597+30dup)
| |
19 | g.855824del | CA2587805334 | ELANE | c.597+30del (n.597+30del)
| gnomAD v4 |
19 | g.855822C= | CA2317361499 | ELANE | c.597+28C= (n.597+28C=)
| |
19 | g.855822C>T | CA9026108 | ELANE | c.597+28C>T (n.597+28C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855823C>A | CA2838375956 | ELANE | c.597+29C>A (n.597+29C>A)
| |
19 | g.855823C= | CA2317361500 | ELANE | c.597+29C= (n.597+29C=)
| |
19 | g.855823C>T | CA2317361501 | ELANE | c.597+29C>T (n.597+29C>T)
| dbSNP |
19 | g.855824C>A | CA2587805335 | ELANE | c.597+30C>A (n.597+30C>A)
| gnomAD v4 |
19 | g.855824C>T | CA2587805336 | ELANE | c.597+30C>T (n.597+30C>T)
| gnomAD v4 |
19 | g.855825A>C | CA2018007627 | ELANE | c.597+31A>C (n.597+31A>C)
| |
19 | g.855826C= | CA2317361502 | ELANE | c.597+32C= (n.597+32C=)
| |
19 | g.855826C>T | CA303945116 | ELANE | c.597+32C>T (n.597+32C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855828del | CA2587805337 | ELANE | c.597+34del (n.597+34del)
| gnomAD v4 |
19 | g.855828C>A | CA2317361504 | ELANE | c.597+34C>A (n.597+34C>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855828C= | CA2317361503 | ELANE | c.597+34C= (n.597+34C=)
| |
19 | g.855828C>G | CA631295236 | ELANE | c.597+34C>G (n.597+34C>G)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855828C>T | CA303945123 | ELANE | c.597+34C>T (n.597+34C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855829G>A | CA631295237 | ELANE | c.597+35G>A (n.597+35G>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855829G= | CA2317361505 | ELANE | c.597+35G= (n.597+35G=)
| |
19 | g.855829G>T | CA2587805338 | ELANE | c.597+35G>T (n.597+35G>T)
| gnomAD v4 |
19 | g.855830C>A | CA2587805339 | ELANE | c.597+36C>A (n.597+36C>A)
| gnomAD v4 |
19 | g.855831_855832delinsTC | CA2317361506 | ELANE | c.597+37_597+38delinsTC (n.597+37_597+38delinsTC)
| |
19 | g.855832C>A | CA2587805340 | ELANE | c.597+38C>A (n.597+38C>A)
| gnomAD v4 |
19 | g.855832C>T | CA2587805341 | ELANE | c.597+38C>T (n.597+38C>T)
| gnomAD v4 |
19 | g.855834del | CA992487314 | ELANE | c.597+40del (n.597+40del)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855833C>A | CA2587805342 | ELANE | c.597+39C>A (n.597+39C>A)
| gnomAD v4 |
19 | g.855834C>T | CA2587805343 | ELANE | c.597+40C>T (n.597+40C>T)
| gnomAD v4 |
19 | g.855836G>A | CA9026109 | ELANE | c.597+42G>A (n.597+42G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855836G= | CA2317361507 | ELANE | c.597+42G= (n.597+42G=)
| |
19 | g.855836G>T | CA2587805344 | ELANE | c.597+42G>T (n.597+42G>T)
| gnomAD v4 |