19 | g.852931G>A | CA402914463 | ELANE | c.123G>A (p.Trp41Ter)
| gnomAD v4 |
19 | g.852931G>C | CA402914468 | ELANE | c.123G>C (p.Trp41Cys)
| |
19 | g.852931G>T | CA402914465 | ELANE | c.123G>T (p.Trp41Cys)
| gnomAD v4 |
19 | g.852931_852932insA | CA2740091830 | ELANE | c.123_124insA (p.Pro42ThrfsTer?)
| ClinVar |
19 | g.852932C>A | CA402914470 | ELANE | c.124C>A (p.Pro42Thr)
| |
19 | g.852932C= | CA2317360115 | ELANE | c.124C= (p.Pro42=)
| |
19 | g.852932C>G | CA402914471 | ELANE | c.124C>G (p.Pro42Ala)
| |
19 | g.852932C>T | CA303942787 | ELANE | c.124C>T (p.Pro42Ser)
| dbSNP gnomAD v4 |
19 | g.852933C>A | CA402914474 | ELANE | c.125C>A (p.Pro42His)
| |
19 | g.852933C>G | CA402914477 | ELANE | c.125C>G (p.Pro42Arg)
| |
19 | g.852933C>T | CA402914480 | ELANE | c.125C>T (p.Pro42Leu)
| gnomAD v4 |
19 | g.852934C>A | CA504684691 | ELANE | c.126C>A (p.Pro42=)
| |
19 | g.852934C= | CA2317360116 | ELANE | c.126C= (p.Pro42=)
| |
19 | g.852934C>G | CA504684693 | ELANE | c.126C>G (p.Pro42=)
| |
19 | g.852934C>T | CA290719 | ELANE | c.126C>T (p.Pro42=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852935T>A | CA402914484 | ELANE | c.127T>A (p.Phe43Ile)
| |
19 | g.852935T>C | CA402914486 | ELANE | c.127T>C (p.Phe43Leu)
| ClinVar gnomAD v4 |
19 | g.852935T>G | CA402914489 | ELANE | c.127T>G (p.Phe43Val)
| |
19 | g.852936T>A | CA402914495 | ELANE | c.128T>A (p.Phe43Tyr)
| gnomAD v4 |
19 | g.852936T>C | CA402914493 | ELANE | c.128T>C (p.Phe43Ser)
| |
19 | g.852936T>G | CA402914492 | ELANE | c.128T>G (p.Phe43Cys)
| |
19 | g.852937C>A | CA402914499 | ELANE | c.129C>A (p.Phe43Leu)
| |
19 | g.852937C>G | CA402914501 | ELANE | c.129C>G (p.Phe43Leu)
| ClinVar |
19 | g.852937C>T | CA504684696 | ELANE | c.129C>T (p.Phe43=)
| |
19 | g.852938A= | CA2317360117 | ELANE | c.130A= (p.Met44=)
| |
19 | g.852938A>C | CA402914504 | ELANE | c.130A>C (p.Met44Leu)
| |
19 | g.852938A>G | CA9025939 | ELANE | c.130A>G (p.Met44Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852938A>T | CA402914507 | ELANE | c.130A>T (p.Met44Leu)
| |
19 | g.852938_852949delinsATGGTGTCCCTG | CA2317360118 | ELANE | c.130_141delinsATGGTGTCCCTG (p.Met44=)
| |
19 | g.852939T>A | CA402914514 | ELANE | c.131T>A (p.Met44Lys)
| |
19 | g.852939T>C | CA402914512 | ELANE | c.131T>C (p.Met44Thr)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852939T>G | CA402914510 | ELANE | c.131T>G (p.Met44Arg)
| |
19 | g.852939T= | CA2317360119 | ELANE | c.131T= (p.Met44=)
| |
19 | g.852939_852949del | CA631295707 | ELANE | c.131_141del (p.Met44ThrfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852940G>A | CA402914517 | ELANE | c.132G>A (p.Met44Ile)
| gnomAD v4 |
19 | g.852940G>C | CA402914519 | ELANE | c.132G>C (p.Met44Ile)
| |
19 | g.852940G>T | CA402914521 | ELANE | c.132G>T (p.Met44Ile)
| gnomAD v4 |
19 | g.852941G>A | CA402914523 | ELANE | c.133G>A (p.Val45Met)
| ClinVar |
19 | g.852941G>C | CA402914526 | ELANE | c.133G>C (p.Val45Leu)
| ClinVar |
19 | g.852941G= | CA2317360121 | ELANE | c.133G= (p.Val45=)
| |
19 | g.852941G>T | CA402914528 | ELANE | c.133G>T (p.Val45Leu)
| ClinVar dbSNP gnomAD v4 |
19 | g.852941_852947delinsGTGTCCC | CA2317360120 | ELANE | c.133_139delinsGTGTCCC (p.Val45=)
| |
19 | g.852942T>A | CA402914532 | ELANE | c.134T>A (p.Val45Glu)
| |
19 | g.852942T>C | CA402914537 | ELANE | c.134T>C (p.Val45Ala)
| gnomAD v4 |
19 | g.852942T>G | CA402914535 | ELANE | c.134T>G (p.Val45Gly)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852944_852949del | CA658824904 | ELANE | c.136_141del (p.Ser46_Leu47del)
| ClinVar dbSNP |
19 | g.852943G>A | CA504684703 | ELANE | c.135G>A (p.Val45=)
| |
19 | g.852943G>C | CA504684705 | ELANE | c.135G>C (p.Val45=)
| |
19 | g.852943G>T | CA504684704 | ELANE | c.135G>T (p.Val45=)
| gnomAD v4 |
19 | g.852944T>A | CA402914541 | ELANE | c.136T>A (p.Ser46Thr)
| |
19 | g.852944T>C | CA402914542 | ELANE | c.136T>C (p.Ser46Pro)
| ClinVar dbSNP |
19 | g.852944T>G | CA402914544 | ELANE | c.136T>G (p.Ser46Ala)
| |
19 | g.852944T= | CA2317360122 | ELANE | c.136T= (p.Ser46=)
| |
19 | g.852945C>A | CA10583957 | ELANE | c.137C>A (p.Ser46Tyr)
| ClinVar dbSNP |
19 | g.852945C= | CA2317360123 | ELANE | c.137C= (p.Ser46=)
| |
19 | g.852945C>G | CA402914549 | ELANE | c.137C>G (p.Ser46Cys)
| |
19 | g.852945C>T | CA16043127 | ELANE | c.137C>T (p.Ser46Phe)
| ClinVar dbSNP |
19 | g.852946C>A | CA504684706 | ELANE | c.138C>A (p.Ser46=)
| gnomAD v4 |
19 | g.852946C>G | CA504684707 | ELANE | c.138C>G (p.Ser46=)
| |
19 | g.852946C>T | CA504684710 | ELANE | c.138C>T (p.Ser46=)
| ClinVar dbSNP gnomAD v4 |
19 | g.852947C>A | CA402914552 | ELANE | c.139C>A (p.Leu47Met)
| |
19 | g.852947C>G | CA402914555 | ELANE | c.139C>G (p.Leu47Val)
| gnomAD v4 |
19 | g.852947C>T | CA504684712 | ELANE | c.139C>T (p.Leu47=)
| |
19 | g.852948T>A | CA402914559 | ELANE | c.140T>A (p.Leu47Gln)
| |
19 | g.852948T>C | CA10583960 | ELANE | c.140T>C (p.Leu47Pro)
| ClinVar dbSNP gnomAD v4 |
19 | g.852948T>G | CA402914562 | ELANE | c.140T>G (p.Leu47Arg)
| |
19 | g.852948T= | CA2317360124 | ELANE | c.140T= (p.Leu47=)
| |
19 | g.852949G>A | CA504684716 | ELANE | c.141G>A (p.Leu47=)
| dbSNP gnomAD v4 |
19 | g.852949G>C | CA504684717 | ELANE | c.141G>C (p.Leu47=)
| |
19 | g.852949G>T | CA504684718 | ELANE | c.141G>T (p.Leu47=)
| gnomAD v4 |
19 | g.852950C>A | CA9025940 | ELANE | c.142C>A (p.Gln48Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852950C= | CA2317360125 | ELANE | c.142C= (p.Gln48=)
| |
19 | g.852950C>G | CA402914568 | ELANE | c.142C>G (p.Gln48Glu)
| |
19 | g.852950C>T | CA402914566 | ELANE | c.142C>T (p.Gln48Ter)
| gnomAD v4 |
19 | g.852951A>C | CA402914572 | ELANE | c.143A>C (p.Gln48Pro)
| |
19 | g.852951A>G | CA402914575 | ELANE | c.143A>G (p.Gln48Arg)
| gnomAD v4 |
19 | g.852951A>T | CA402914573 | ELANE | c.143A>T (p.Gln48Leu)
| |
19 | g.852952del | CA2587804945 | ELANE | c.144del (p.Gln48HisfsTer12)
| gnomAD v4 |
19 | g.852952G>A | CA504684720 | ELANE | c.144G>A (p.Gln48=)
| dbSNP gnomAD v2 |
19 | g.852952G>C | CA402914577 | ELANE | c.144G>C (p.Gln48His)
| |
19 | g.852952G= | CA2317360126 | ELANE | c.144G= (p.Gln48=)
| |
19 | g.852952G>T | CA402914579 | ELANE | c.144G>T (p.Gln48His)
| gnomAD v4 |
19 | g.852953C>A | CA402914583 | ELANE | c.145C>A (p.Leu49Met)
| gnomAD v4 |
19 | g.852953C>G | CA402914584 | ELANE | c.145C>G (p.Leu49Val)
| |
19 | g.852953C>T | CA504684722 | ELANE | c.145C>T (p.Leu49=)
| gnomAD v4 |
19 | g.852954T>A | CA402914586 | ELANE | c.146T>A (p.Leu49Gln)
| |
19 | g.852954T>C | CA402914587 | ELANE | c.146T>C (p.Leu49Pro)
| ClinVar dbSNP gnomAD v4 |
19 | g.852954T>G | CA402914588 | ELANE | c.146T>G (p.Leu49Arg)
| |
19 | g.852955G>A | CA504684723 | ELANE | c.147G>A (p.Leu49=)
| |
19 | g.852955G>C | CA504684725 | ELANE | c.147G>C (p.Leu49=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852955G= | CA2317360127 | ELANE | c.147G= (p.Leu49=)
| |
19 | g.852955G>T | CA504684726 | ELANE | c.147G>T (p.Leu49=)
| gnomAD v4 |
19 | g.852956C>A | CA402914590 | ELANE | c.148C>A (p.Arg50Ser)
| gnomAD v4 |
19 | g.852956C>G | CA402914592 | ELANE | c.148C>G (p.Arg50Gly)
| |
19 | g.852956C>T | CA402914594 | ELANE | c.148C>T (p.Arg50Cys)
| gnomAD v4 |
19 | g.852957G>A | CA402914596 | ELANE | c.149G>A (p.Arg50His)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852957G>C | CA402914597 | ELANE | c.149G>C (p.Arg50Pro)
| |
19 | g.852957G= | CA2317360128 | ELANE | c.149G= (p.Arg50=)
| |
19 | g.852957G>T | CA402914601 | ELANE | c.149G>T (p.Arg50Leu)
| gnomAD v4 |
19 | g.852958C>A | CA504684729 | ELANE | c.150C>A (p.Arg50=)
| ClinVar gnomAD v4 |
19 | g.852958C= | CA2317360129 | ELANE | c.150C= (p.Arg50=)
| |
19 | g.852958C>G | CA504684730 | ELANE | c.150C>G (p.Arg50=)
| |
19 | g.852958C>T | CA9025941 | ELANE | c.150C>T (p.Arg50=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852959G>A | CA402914609 | ELANE | c.151G>A (p.Gly51Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.852959G>C | CA402914611 | ELANE | c.151G>C (p.Gly51Arg)
| |
19 | g.852959G= | CA2317360130 | ELANE | c.151G= (p.Gly51=)
| |
19 | g.852959G>T | CA402914614 | ELANE | c.151G>T (p.Gly51Ter)
| gnomAD v4 |
19 | g.852960G>A | CA402914617 | ELANE | c.152G>A (p.Gly51Glu)
| |
19 | g.852960G>C | CA402914619 | ELANE | c.152G>C (p.Gly51Ala)
| |
19 | g.852960G>T | CA402914622 | ELANE | c.152G>T (p.Gly51Val)
| gnomAD v4 |
19 | g.852961A>C | CA504684734 | ELANE | c.153A>C (p.Gly51=)
| |
19 | g.852961A>G | CA504684735 | ELANE | c.153A>G (p.Gly51=)
| gnomAD v4 |
19 | g.852961A>T | CA504684736 | ELANE | c.153A>T (p.Gly51=)
| |
19 | g.852962G>A | CA402914625 | ELANE | c.154G>A (p.Gly52Ser)
| gnomAD v4 |
19 | g.852962G>C | CA402914627 | ELANE | c.154G>C (p.Gly52Arg)
| |
19 | g.852962G>T | CA402914628 | ELANE | c.154G>T (p.Gly52Cys)
| gnomAD v4 |
19 | g.852963del | CA2587804955 | ELANE | c.155del (p.Gly52AlafsTer8)
| gnomAD v4 |
19 | g.852963G>A | CA402914631 | ELANE | c.155G>A (p.Gly52Asp)
| gnomAD v4 |
19 | g.852963G>C | CA402914633 | ELANE | c.155G>C (p.Gly52Ala)
| |
19 | g.852963G>T | CA402914635 | ELANE | c.155G>T (p.Gly52Val)
| gnomAD v4 |
19 | g.852964C>A | CA504684738 | ELANE | c.156C>A (p.Gly52=)
| |
19 | g.852964C>G | CA504684739 | ELANE | c.156C>G (p.Gly52=)
| |
19 | g.852964C>T | CA504684737 | ELANE | c.156C>T (p.Gly52=)
| gnomAD v4 |
19 | g.852965C>A | CA402914642 | ELANE | c.157C>A (p.His53Asn)
| gnomAD v4 |
19 | g.852965C= | CA2317360131 | ELANE | c.157C= (p.His53=)
| |
19 | g.852965C>G | CA402914639 | ELANE | c.157C>G (p.His53Asp)
| ClinVar |
19 | g.852965C>T | CA402914636 | ELANE | c.157C>T (p.His53Tyr)
| ClinVar dbSNP gnomAD v4 |
19 | g.852966A>C | CA402914652 | ELANE | c.158A>C (p.His53Pro)
| ClinVar |
19 | g.852966A>G | CA402914646 | ELANE | c.158A>G (p.His53Arg)
| |
19 | g.852966A>T | CA402914649 | ELANE | c.158A>T (p.His53Leu)
| ClinVar |
19 | g.852967C>A | CA402914654 | ELANE | c.159C>A (p.His53Gln)
| gnomAD v4 |
19 | g.852967C>G | CA402914656 | ELANE | c.159C>G (p.His53Gln)
| ClinVar dbSNP |
19 | g.852967C>T | CA504684741 | ELANE | c.159C>T (p.His53=)
| gnomAD v4 |
19 | g.852968T>A | CA402914661 | ELANE | c.160T>A (p.Phe54Ile)
| |
19 | g.852968T>C | CA402914663 | ELANE | c.160T>C (p.Phe54Leu)
| gnomAD v4 |
19 | g.852968T>G | CA402914665 | ELANE | c.160T>G (p.Phe54Val)
| |
19 | g.852969T>A | CA402914667 | ELANE | c.161T>A (p.Phe54Tyr)
| |
19 | g.852969T>C | CA402914669 | ELANE | c.161T>C (p.Phe54Ser)
| |
19 | g.852969T>G | CA402914670 | ELANE | c.161T>G (p.Phe54Cys)
| |
19 | g.852969_852972delinsTCTG | CA2317360132 | ELANE | c.161_164delinsTCTG (p.Phe54=)
| |
19 | g.852970C>A | CA402914671 | ELANE | c.162C>A (p.Phe54Leu)
| gnomAD v4 |
19 | g.852970C>G | CA402914672 | ELANE | c.162C>G (p.Phe54Leu)
| gnomAD v4 |
19 | g.852970C>T | CA504684743 | ELANE | c.162C>T (p.Phe54=)
| gnomAD v4 |
19 | g.852971_852973del | CA1139666166 | ELANE | c.163_165del (p.Cys55del)
| ClinVar dbSNP |
19 | g.852971T>A | CA402914676 | ELANE | c.163T>A (p.Cys55Ser)
| |
19 | g.852971T>C | CA402914674 | ELANE | c.163T>C (p.Cys55Arg)
| ClinVar gnomAD v4 |
19 | g.852971T>G | CA402914673 | ELANE | c.163T>G (p.Cys55Gly)
| |
19 | g.852972G>A | CA402914677 | ELANE | c.164G>A (p.Cys55Tyr)
| ClinVar |
19 | g.852972G>C | CA402914679 | ELANE | c.164G>C (p.Cys55Ser)
| ClinVar dbSNP |
19 | g.852972G= | CA2317360133 | ELANE | c.164G= (p.Cys55=)
| |
19 | g.852972G>T | CA402914680 | ELANE | c.164G>T (p.Cys55Phe)
| gnomAD v4 |
19 | g.852973C>A | CA402914682 | ELANE | c.165C>A (p.Cys55Ter)
| ClinVar gnomAD v4 COSMIC |
19 | g.852973C= | CA2317360134 | ELANE | c.165C= (p.Cys55=)
| |
19 | g.852973C>G | CA402914684 | ELANE | c.165C>G (p.Cys55Trp)
| gnomAD v4 |
19 | g.852973C>T | CA9025942 | ELANE | c.165C>T (p.Cys55=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852974G>A | CA402914689 | ELANE | c.166G>A (p.Gly56Ser)
| gnomAD v4 |
19 | g.852974G>C | CA402914691 | ELANE | c.166G>C (p.Gly56Arg)
| |
19 | g.852974G>T | CA402914693 | ELANE | c.166G>T (p.Gly56Cys)
| gnomAD v4 |
19 | g.852975G>A | CA402914695 | ELANE | c.167G>A (p.Gly56Asp)
| |
19 | g.852975G>C | CA402914698 | ELANE | c.167G>C (p.Gly56Ala)
| |
19 | g.852975G>T | CA402914701 | ELANE | c.167G>T (p.Gly56Val)
| gnomAD v4 |
19 | g.852976C>A | CA504684744 | ELANE | c.168C>A (p.Gly56=)
| gnomAD v4 |
19 | g.852976C= | CA2317360135 | ELANE | c.168C= (p.Gly56=)
| |
19 | g.852976C>G | CA504684745 | ELANE | c.168C>G (p.Gly56=)
| gnomAD v4 |
19 | g.852976C>T | CA9025943 | ELANE | c.168C>T (p.Gly56=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.852976_852977insCTGATT | CA2695227777 | ELANE | c.168_169insCTGATT (p.Gly56_Ala57insLeuIle)
| |
19 | g.852977G>A | CA402914708 | ELANE | c.169G>A (p.Ala57Thr)
| ClinVar dbSNP gnomAD v4 |
19 | g.852977G>C | CA402914709 | ELANE | c.169G>C (p.Ala57Pro)
| |
19 | g.852977G>T | CA402914705 | ELANE | c.169G>T (p.Ala57Ser)
| gnomAD v4 |
19 | g.852978C>A | CA402914711 | ELANE | c.170C>A (p.Ala57Asp)
| gnomAD v4 |
19 | g.852978C= | CA2317360136 | ELANE | c.170C= (p.Ala57=)
| |
19 | g.852978C>G | CA402914714 | ELANE | c.170C>G (p.Ala57Gly)
| |
19 | g.852978C>T | CA16603237 | ELANE | c.170C>T (p.Ala57Val)
| ClinVar dbSNP |
19 | g.852979C>A | CA504684746 | ELANE | c.171C>A (p.Ala57=)
| gnomAD v4 |
19 | g.852979C= | CA2317360137 | ELANE | c.171C= (p.Ala57=)
| |
19 | g.852979C>G | CA504684747 | ELANE | c.171C>G (p.Ala57=)
| |
19 | g.852979C>T | CA9025944 | ELANE | c.171C>T (p.Ala57=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852980A= | CA2317360138 | ELANE | c.172A= (p.Thr58=)
| |
19 | g.852980A>C | CA402914718 | ELANE | c.172A>C (p.Thr58Pro)
| ClinVar dbSNP |
19 | g.852980A>G | CA402914720 | ELANE | c.172A>G (p.Thr58Ala)
| gnomAD v4 |
19 | g.852980A>T | CA402914722 | ELANE | c.172A>T (p.Thr58Ser)
| ClinVar |
19 | g.852981C>A | CA402914725 | ELANE | c.173C>A (p.Thr58Asn)
| gnomAD v4 |
19 | g.852981C= | CA2317360139 | ELANE | c.173C= (p.Thr58=)
| |
19 | g.852981C>G | CA402914727 | ELANE | c.173C>G (p.Thr58Ser)
| gnomAD v3 |
19 | g.852981C>T | CA9025945 | ELANE | c.173C>T (p.Thr58Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852982C>A | CA504684748 | ELANE | c.174C>A (p.Thr58=)
| gnomAD v4 |
19 | g.852982C= | CA2317360140 | ELANE | c.174C= (p.Thr58=)
| |
19 | g.852982C>G | CA504684749 | ELANE | c.174C>G (p.Thr58=)
| |
19 | g.852982C>T | CA9025946 | ELANE | c.174C>T (p.Thr58=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852983C>A | CA402914734 | ELANE | c.175C>A (p.Leu59Met)
| gnomAD v4 |
19 | g.852983C>G | CA402914736 | ELANE | c.175C>G (p.Leu59Val)
| |
19 | g.852983C>T | CA504684750 | ELANE | c.175C>T (p.Leu59=)
| gnomAD v4 |
19 | g.852984T>A | CA402914745 | ELANE | c.176T>A (p.Leu59Gln)
| gnomAD v4 |
19 | g.852984T>C | CA402914742 | ELANE | c.176T>C (p.Leu59Pro)
| gnomAD v4 |
19 | g.852984T>G | CA402914740 | ELANE | c.176T>G (p.Leu59Arg)
| ClinVar dbSNP |
19 | g.852984T= | CA2317360141 | ELANE | c.176T= (p.Leu59=)
| |
19 | g.852985G>A | CA504684751 | ELANE | c.177G>A (p.Leu59=)
| gnomAD v4 |
19 | g.852985G>C | CA504684753 | ELANE | c.177G>C (p.Leu59=)
| gnomAD v4 |
19 | g.852985G>T | CA504684752 | ELANE | c.177G>T (p.Leu59=)
| gnomAD v4 |
19 | g.852986A>C | CA402914747 | ELANE | c.178A>C (p.Ile60Leu)
| |
19 | g.852986A>G | CA402914750 | ELANE | c.178A>G (p.Ile60Val)
| gnomAD v4 |
19 | g.852986A>T | CA402914753 | ELANE | c.178A>T (p.Ile60Phe)
| |
19 | g.852987T>A | CA402914754 | ELANE | c.179T>A (p.Ile60Asn)
| |
19 | g.852987T>C | CA402914755 | ELANE | c.179T>C (p.Ile60Thr)
| gnomAD v4 |
19 | g.852987T>G | CA402914756 | ELANE | c.179T>G (p.Ile60Ser)
| |
19 | g.852987_852990delinsG | CA2695227778 | ELANE | c.179_182delinsG (p.Ile60_Ala61delinsArg)
| |
19 | g.852988T>A | CA504684754 | ELANE | c.180T>A (p.Ile60=)
| |
19 | g.852988T>C | CA504684755 | ELANE | c.180T>C (p.Ile60=)
| |
19 | g.852988T>G | CA402914757 | ELANE | c.180T>G (p.Ile60Met)
| |
19 | g.852988_852990delinsGGG | CA2695227779 | ELANE | c.180_182delinsGGG (p.Ile60_Ala61delinsMetGly)
| |
19 | g.852989G>A | CA303942820 | ELANE | c.181G>A (p.Ala61Thr)
| dbSNP gnomAD v4 |
19 | g.852989G>C | CA402914758 | ELANE | c.181G>C (p.Ala61Pro)
| |
19 | g.852989G= | CA2317360142 | ELANE | c.181G= (p.Ala61=)
| |
19 | g.852989G>T | CA402914765 | ELANE | c.181G>T (p.Ala61Ser)
| gnomAD v4 |
19 | g.852990C>A | CA9025948 | ELANE | c.182C>A (p.Ala61Glu)
| ClinVar dbSNP ExAC gnomAD v4 |
19 | g.852990C= | CA2317360143 | ELANE | c.182C= (p.Ala61=)
| |
19 | g.852990C>G | CA9025947 | ELANE | c.182C>G (p.Ala61Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852990C>T | CA281048 | ELANE | c.182C>T (p.Ala61Val)
| ClinVar dbSNP gnomAD v4 |
19 | g.852991G>A | CA504684756 | ELANE | c.183G>A (p.Ala61=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852991G>C | CA504684757 | ELANE | c.183G>C (p.Ala61=)
| |
19 | g.852991G= | CA2317359643 | ELANE | c.183G= (p.Ala61=)
| |
19 | g.852991G>T | CA504684758 | ELANE | c.183G>T (p.Ala61=)
| gnomAD v4 |
19 | g.852992C>A | CA402914776 | ELANE | c.184C>A (p.Pro62Thr)
| gnomAD v4 |
19 | g.852992C= | CA2317359644 | ELANE | c.184C= (p.Pro62=)
| |
19 | g.852992C>G | CA402914777 | ELANE | c.184C>G (p.Pro62Ala)
| |
19 | g.852992C>T | CA402914773 | ELANE | c.184C>T (p.Pro62Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.852993C>A | CA402914780 | ELANE | c.185C>A (p.Pro62His)
| gnomAD v4 |
19 | g.852993C>G | CA402914782 | ELANE | c.185C>G (p.Pro62Arg)
| |
19 | g.852993C>T | CA402914785 | ELANE | c.185C>T (p.Pro62Leu)
| gnomAD v4 |
19 | g.852994C>A | CA504684759 | ELANE | c.186C>A (p.Pro62=)
| gnomAD v4 |
19 | g.852994C= | CA2317359645 | ELANE | c.186C= (p.Pro62=)
| |
19 | g.852994C>G | CA504684760 | ELANE | c.186C>G (p.Pro62=)
| dbSNP gnomAD v4 |
19 | g.852994C>T | CA504684761 | ELANE | c.186C>T (p.Pro62=)
| gnomAD v4 |
19 | g.852994_852995delinsCA | CA2317359646 | ELANE | c.186_187delinsCA (p.Pro62=)
| |
19 | g.852995A= | CA2317359647 | ELANE | c.187A= (p.Asn63=)
| |
19 | g.852995A>C | CA402914788 | ELANE | c.187A>C (p.Asn63His)
| |
19 | g.852995A>G | CA402914791 | ELANE | c.187A>G (p.Asn63Asp)
| |
19 | g.852995A>T | CA402914793 | ELANE | c.187A>T (p.Asn63Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852996del | CA884312888 | ELANE | c.188del (p.Asn63ThrfsTer13)
| dbSNP |
19 | g.852996A= | CA2317359648 | ELANE | c.188A= (p.Asn63=)
| |
19 | g.852996A>C | CA402914795 | ELANE | c.188A>C (p.Asn63Thr)
| |
19 | g.852996A>G | CA402914798 | ELANE | c.188A>G (p.Asn63Ser)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852996A>T | CA402914801 | ELANE | c.188A>T (p.Asn63Ile)
| |
19 | g.852997C>A | CA402914803 | ELANE | c.189C>A (p.Asn63Lys)
| ClinVar dbSNP gnomAD v4 |
19 | g.852997C>G | CA402914805 | ELANE | c.189C>G (p.Asn63Lys)
| |
19 | g.852997C>T | CA504684762 | ELANE | c.189C>T (p.Asn63=)
| |
19 | g.852998T>A | CA402914813 | ELANE | c.190T>A (p.Phe64Ile)
| gnomAD v4 |
19 | g.852998T>C | CA402914810 | ELANE | c.190T>C (p.Phe64Leu)
| gnomAD v4 |
19 | g.852998T>G | CA402914808 | ELANE | c.190T>G (p.Phe64Val)
| |
19 | g.852999T>A | CA402914816 | ELANE | c.191T>A (p.Phe64Tyr)
| |
19 | g.852999T>C | CA402914819 | ELANE | c.191T>C (p.Phe64Ser)
| gnomAD v4 |
19 | g.852999T>G | CA402914820 | ELANE | c.191T>G (p.Phe64Cys)
| |
19 | g.853001_853003del | CA2695227780 | ELANE | c.193_195del (p.Val65del)
| |
19 | g.853000C>A | CA402914823 | ELANE | c.192C>A (p.Phe64Leu)
| gnomAD v4 |
19 | g.853000C= | CA2317359649 | ELANE | c.192C= (p.Phe64=)
| |
19 | g.853000C>G | CA402914826 | ELANE | c.192C>G (p.Phe64Leu)
| |
19 | g.853000C>T | CA504684763 | ELANE | c.192C>T (p.Phe64=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853001del | CA2695196516 | ELANE | c.193del (p.Val65SerfsTer11)
| |
19 | g.853001G>A | CA402914829 | ELANE | c.193G>A (p.Val65Ile)
| gnomAD v4 |
19 | g.853001G>C | CA402914831 | ELANE | c.193G>C (p.Val65Leu)
| dbSNP gnomAD v4 |
19 | g.853001G= | CA2317359650 | ELANE | c.193G= (p.Val65=)
| |
19 | g.853001G>T | CA402914834 | ELANE | c.193G>T (p.Val65Phe)
| gnomAD v4 COSMIC |
19 | g.853002T>A | CA402914838 | ELANE | c.194T>A (p.Val65Asp)
| ClinVar dbSNP |
19 | g.853002T>C | CA402914839 | ELANE | c.194T>C (p.Val65Ala)
| |
19 | g.853002T>G | CA402914842 | ELANE | c.194T>G (p.Val65Gly)
| |
19 | g.853002T= | CA2317359652 | ELANE | c.194T= (p.Val65=)
| |
19 | g.853003C>A | CA504684764 | ELANE | c.195C>A (p.Val65=)
| gnomAD v4 |
19 | g.853003C= | CA2317359653 | ELANE | c.195C= (p.Val65=)
| |
19 | g.853003C>G | CA504684765 | ELANE | c.195C>G (p.Val65=)
| |
19 | g.853003C>T | CA504684766 | ELANE | c.195C>T (p.Val65=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853003_853018delinsA | CA2695227781 | ELANE | c.195_210delinsA (p.Met66_His70del)
| |
19 | g.853004A>C | CA402914851 | ELANE | c.196A>C (p.Met66Leu)
| |
19 | g.853004A>G | CA402914848 | ELANE | c.196A>G (p.Met66Val)
| gnomAD v4 |
19 | g.853004A>T | CA402914846 | ELANE | c.196A>T (p.Met66Leu)
| dbSNP |
19 | g.853005T>A | CA402914854 | ELANE | c.197T>A (p.Met66Lys)
| |
19 | g.853005T>C | CA402914859 | ELANE | c.197T>C (p.Met66Thr)
| |
19 | g.853005T>G | CA402914856 | ELANE | c.197T>G (p.Met66Arg)
| ClinVar |
19 | g.853006G>A | CA402914863 | ELANE | c.198G>A (p.Met66Ile)
| gnomAD v4 |
19 | g.853006G>C | CA402914864 | ELANE | c.198G>C (p.Met66Ile)
| gnomAD v4 |
19 | g.853006G>T | CA402914867 | ELANE | c.198G>T (p.Met66Ile)
| gnomAD v4 |
19 | g.853007_853015del | CA2695227782 | ELANE | c.199_207del (p.Ser67_Ala69del)
| |
19 | g.853007T>A | CA402914869 | ELANE | c.199T>A (p.Ser67Thr)
| |
19 | g.853007T>C | CA402914871 | ELANE | c.199T>C (p.Ser67Pro)
| gnomAD v4 |
19 | g.853007T>G | CA402914873 | ELANE | c.199T>G (p.Ser67Ala)
| |
19 | g.853008C>A | CA402914875 | ELANE | c.200C>A (p.Ser67Ter)
| gnomAD v4 |
19 | g.853008C= | CA2317359654 | ELANE | c.200C= (p.Ser67=)
| |
19 | g.853008C>G | CA402914877 | ELANE | c.200C>G (p.Ser67Trp)
| |
19 | g.853008C>T | CA402914880 | ELANE | c.200C>T (p.Ser67Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853010_853015del | CA2695227783 | ELANE | c.202_207del (p.Ala68_Ala69del)
| |
19 | g.853009G>A | CA504684771 | ELANE | c.201G>A (p.Ser67=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853009G>C | CA504684773 | ELANE | c.201G>C (p.Ser67=)
| |
19 | g.853009G= | CA2317359655 | ELANE | c.201G= (p.Ser67=)
| |
19 | g.853009G>T | CA9025949 | ELANE | c.201G>T (p.Ser67=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853010G>A | CA402914885 | ELANE | c.202G>A (p.Ala68Thr)
| gnomAD v4 |
19 | g.853010G>C | CA402914887 | ELANE | c.202G>C (p.Ala68Pro)
| |
19 | g.853010G>T | CA402914889 | ELANE | c.202G>T (p.Ala68Ser)
| gnomAD v4 |
19 | g.853011C>A | CA402914897 | ELANE | c.203C>A (p.Ala68Asp)
| gnomAD v4 COSMIC |
19 | g.853011C>G | CA402914896 | ELANE | c.203C>G (p.Ala68Gly)
| |
19 | g.853011C>T | CA402914892 | ELANE | c.203C>T (p.Ala68Val)
| gnomAD v4 |
19 | g.853012C>A | CA504684774 | ELANE | c.204C>A (p.Ala68=)
| gnomAD v4 |
19 | g.853012C= | CA2317359657 | ELANE | c.204C= (p.Ala68=)
| |
19 | g.853012C>G | CA504684775 | ELANE | c.204C>G (p.Ala68=)
| |
19 | g.853012C>T | CA504684777 | ELANE | c.204C>T (p.Ala68=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853012_853013delinsCG | CA2317359656 | ELANE | c.204_205delinsCG (p.Ala68=)
| |
19 | g.853013del | CA631295719 | ELANE | c.205del (p.Ala69ArgfsTer7)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853013G>A | CA402914901 | ELANE | c.205G>A (p.Ala69Thr)
| ClinVar gnomAD v4 |
19 | g.853013G>C | CA402914903 | ELANE | c.205G>C (p.Ala69Pro)
| |
19 | g.853013G>T | CA402914905 | ELANE | c.205G>T (p.Ala69Ser)
| gnomAD v4 |
19 | g.853014C>A | CA402914906 | ELANE | c.206C>A (p.Ala69Glu)
| gnomAD v4 |
19 | g.853014C>G | CA402914908 | ELANE | c.206C>G (p.Ala69Gly)
| |
19 | g.853014C>T | CA402914910 | ELANE | c.206C>T (p.Ala69Val)
| gnomAD v4 |
19 | g.853015G>A | CA504684785 | ELANE | c.207G>A (p.Ala69=)
| gnomAD v4 |
19 | g.853015G>C | CA504684786 | ELANE | c.207G>C (p.Ala69=)
| |
19 | g.853015G>T | CA504684788 | ELANE | c.207G>T (p.Ala69=)
| gnomAD v4 |
19 | g.853016C>A | CA402914914 | ELANE | c.208C>A (p.His70Asn)
| gnomAD v4 |
19 | g.853016C>G | CA402914916 | ELANE | c.208C>G (p.His70Asp)
| |
19 | g.853016C>T | CA402914920 | ELANE | c.208C>T (p.His70Tyr)
| gnomAD v4 |
19 | g.853017A>C | CA402914923 | ELANE | c.209A>C (p.His70Pro)
| gnomAD v4 |
19 | g.853017A>G | CA402914924 | ELANE | c.209A>G (p.His70Arg)
| gnomAD v4 |
19 | g.853017A>T | CA402914925 | ELANE | c.209A>T (p.His70Leu)
| gnomAD v4 |
19 | g.853018C>A | CA402914927 | ELANE | c.210C>A (p.His70Gln)
| gnomAD v4 |
19 | g.853018C= | CA2317359658 | ELANE | c.210C= (p.His70=)
| |
19 | g.853018C>G | CA402914929 | ELANE | c.210C>G (p.His70Gln)
| |
19 | g.853018C>T | CA303942832 | ELANE | c.210C>T (p.His70=)
| ClinVar dbSNP gnomAD v4 |
19 | g.853019T>A | CA402914933 | ELANE | c.211T>A (p.Cys71Ser)
| gnomAD v4 |
19 | g.853019T>C | CA281057 | ELANE | c.211T>C (p.Cys71Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853019T>G | CA402914931 | ELANE | c.211T>G (p.Cys71Gly)
| gnomAD v4 |
19 | g.853019T= | CA2317359659 | ELANE | c.211T= (p.Cys71=)
| |
19 | g.853020G>A | CA402914936 | ELANE | c.212G>A (p.Cys71Tyr)
| gnomAD v4 COSMIC |
19 | g.853020G>C | CA402914937 | ELANE | c.212G>C (p.Cys71Ser)
| |
19 | g.853020G= | CA2317359663 | ELANE | c.212G= (p.Cys71=)
| |
19 | g.853020G>T | CA10583958 | ELANE | c.212G>T (p.Cys71Phe)
| ClinVar dbSNP gnomAD v4 |
19 | g.853021C>A | CA402914939 | ELANE | c.213C>A (p.Cys71Ter)
| gnomAD v4 |
19 | g.853021C= | CA2317359666 | ELANE | c.213C= (p.Cys71=)
| |
19 | g.853021C>G | CA402914942 | ELANE | c.213C>G (p.Cys71Trp)
| |
19 | g.853021C>T | CA504684795 | ELANE | c.213C>T (p.Cys71=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853022G>A | CA281052 | ELANE | c.214G>A (p.Val72Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.853022G>C | CA402914946 | ELANE | c.214G>C (p.Val72Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853022G= | CA2317359670 | ELANE | c.214G= (p.Val72=)
| |
19 | g.853022G>T | CA402914944 | ELANE | c.214G>T (p.Val72Leu)
| gnomAD v4 |
19 | g.853023T>A | CA402914950 | ELANE | c.215T>A (p.Val72Glu)
| gnomAD v4 |
19 | g.853023T>C | CA402914951 | ELANE | c.215T>C (p.Val72Ala)
| gnomAD v4 |
19 | g.853023T>G | CA402914953 | ELANE | c.215T>G (p.Val72Gly)
| |
19 | g.853024G>A | CA504684803 | ELANE | c.216G>A (p.Val72=)
| gnomAD v4 |
19 | g.853024G>C | CA504684805 | ELANE | c.216G>C (p.Val72=)
| |
19 | g.853024G>T | CA504684807 | ELANE | c.216G>T (p.Val72=)
| gnomAD v4 |
19 | g.853025G>A | CA9025950 | ELANE | c.217G>A (p.Ala73Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853025G>C | CA402914957 | ELANE | c.217G>C (p.Ala73Pro)
| |
19 | g.853025G= | CA2317359676 | ELANE | c.217G= (p.Ala73=)
| |
19 | g.853025G>T | CA402914959 | ELANE | c.217G>T (p.Ala73Ser)
| gnomAD v4 |
19 | g.853026C>A | CA402914961 | ELANE | c.218C>A (p.Ala73Glu)
| gnomAD v4 |
19 | g.853026C= | CA2317359679 | ELANE | c.218C= (p.Ala73=)
| |
19 | g.853026C>G | CA402914965 | ELANE | c.218C>G (p.Ala73Gly)
| |
19 | g.853026C>T | CA402914962 | ELANE | c.218C>T (p.Ala73Val)
| dbSNP gnomAD v4 COSMIC |
19 | g.853027G>A | CA9025951 | ELANE | c.219G>A (p.Ala73=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853027G>C | CA504684818 | ELANE | c.219G>C (p.Ala73=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853027G= | CA2317359680 | ELANE | c.219G= (p.Ala73=)
| |
19 | g.853027G>T | CA504684819 | ELANE | c.219G>T (p.Ala73=)
| gnomAD v4 |
19 | g.853028A>C | CA402914970 | ELANE | c.220A>C (p.Asn74His)
| |
19 | g.853028A>G | CA402914972 | ELANE | c.220A>G (p.Asn74Asp)
| gnomAD v4 |
19 | g.853028A>T | CA402914974 | ELANE | c.220A>T (p.Asn74Tyr)
| gnomAD v4 |
19 | g.853029A= | CA2317359683 | ELANE | c.221A= (p.Asn74=)
| |
19 | g.853029A>C | CA303942846 | ELANE | c.221A>C (p.Asn74Thr)
| dbSNP |
19 | g.853029A>G | CA402914979 | ELANE | c.221A>G (p.Asn74Ser)
| |
19 | g.853029A>T | CA402914981 | ELANE | c.221A>T (p.Asn74Ile)
| gnomAD v4 |
19 | g.853030T>A | CA402914985 | ELANE | c.222T>A (p.Asn74Lys)
| |
19 | g.853030T>C | CA9025952 | ELANE | c.222T>C (p.Asn74=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853030T>G | CA402914990 | ELANE | c.222T>G (p.Asn74Lys)
| gnomAD v4 |
19 | g.853030T= | CA2317359685 | ELANE | c.222T= (p.Asn74=)
| |
19 | g.853034_853035dup | CA2587804813 | ELANE | c.224+2_224+3dup
| gnomAD v4 |
19 | g.853030_853031insAC | CA2317359687 | ELANE | c.222_223insAC (p.Val75ThrfsTer2)
| ClinVar dbSNP |
19 | g.853031G>A | CA303942850 | ELANE | c.223G>A (p.Val75Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853031G>C | CA402914996 | ELANE | c.223G>C (p.Val75Leu)
| |
19 | g.853031G= | CA2317359688 | ELANE | c.223G= (p.Val75=)
| |
19 | g.853031G>T | CA402914993 | ELANE | c.223G>T (p.Val75Leu)
| gnomAD v4 |