UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.855969C>A | CA504686342 | ELANE | c.609C>A (p.Gly203=) | |
| 19 | g.855969C>G | CA504686340 | ELANE | c.609C>G (p.Gly203=) | |
| 19 | g.855969C>T | CA504686337 | ELANE | c.609C>T (p.Gly203=) | |
| 19 | g.855970A>C | CA402918885 | ELANE | c.610A>C (p.Ser204Arg) | |
| 19 | g.855970A>G | CA402918887 | ELANE | c.610A>G (p.Ser204Gly) | gnomAD v4 |
| 19 | g.855970A>T | CA402918884 | ELANE | c.610A>T (p.Ser204Cys) | |
| 19 | g.855971G>A | CA402918889 | ELANE | c.611G>A (p.Ser204Asn) | COSMIC |
| 19 | g.855971G>C | CA402918890 | ELANE | c.611G>C (p.Ser204Thr) | |
| 19 | g.855971G>T | CA402918892 | ELANE | c.611G>T (p.Ser204Ile) | |
| 19 | g.855972C>A | CA402918894 | ELANE | c.612C>A (p.Ser204Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.855972C= | CA2317361605 | ELANE | c.612C= (p.Ser204=) | |
| 19 | g.855972C>G | CA402918896 | ELANE | c.612C>G (p.Ser204Arg) | |
| 19 | g.855972C>T | CA9026121 | ELANE | c.612C>T (p.Ser204=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.855975del | CA2695227814 | ELANE | c.615del (p.Leu206TrpfsTer6) | |
| 19 | g.855973C>A | CA402918897 | ELANE | c.613C>A (p.Pro205Thr) | |
| 19 | g.855973C= | CA2317361606 | ELANE | c.613C= (p.Pro205=) | |
| 19 | g.855973C>G | CA402918901 | ELANE | c.613C>G (p.Pro205Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.855973C>T | CA402918898 | ELANE | c.613C>T (p.Pro205Ser) | |
| 19 | g.855974C>A | CA402918903 | ELANE | c.614C>A (p.Pro205His) | |
| 19 | g.855974C= | CA2317361607 | ELANE | c.614C= (p.Pro205=) | |
| 19 | g.855974C>G | CA402918904 | ELANE | c.614C>G (p.Pro205Arg) | ClinVar dbSNP |
| 19 | g.855974C>T | CA402918906 | ELANE | c.614C>T (p.Pro205Leu) | |
| 19 | g.855975C>A | CA504686369 | ELANE | c.615C>A (p.Pro205=) | |
| 19 | g.855975C>G | CA504686371 | ELANE | c.615C>G (p.Pro205=) | |
| 19 | g.855975C>T | CA504686372 | ELANE | c.615C>T (p.Pro205=) | gnomAD v4 |
| 19 | g.855975_855978del | CA2695227815 | ELANE | c.615_618del (p.Leu206SerfsTer5) | |
| 19 | g.855976T>A | CA402918908 | ELANE | c.616T>A (p.Leu206Met) | |
| 19 | g.855976T>C | CA504686378 | ELANE | c.616T>C (p.Leu206=) | gnomAD v4 |
| 19 | g.855976T>G | CA402918910 | ELANE | c.616T>G (p.Leu206Val) | |
| 19 | g.855977T>A | CA402918914 | ELANE | c.617T>A (p.Leu206Ter) | |
| 19 | g.855977T>C | CA402918915 | ELANE | c.617T>C (p.Leu206Ser) | |
| 19 | g.855977T>G | CA402918912 | ELANE | c.617T>G (p.Leu206Trp) | |
| 19 | g.855978G>A | CA504686387 | ELANE | c.618G>A (p.Leu206=) | ClinVar |
| 19 | g.855978G>C | CA402918918 | ELANE | c.618G>C (p.Leu206Phe) | ClinVar dbSNP |
| 19 | g.855978G= | CA2317361608 | ELANE | c.618G= (p.Leu206=) | |
| 19 | g.855978G>T | CA281046 | ELANE | c.618G>T (p.Leu206Phe) | ClinVar dbSNP |
| 19 | g.855979G>A | CA402918920 | ELANE | c.619G>A (p.Val207Ile) | gnomAD v4 COSMIC |
| 19 | g.855979G>C | CA402918921 | ELANE | c.619G>C (p.Val207Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.855979G= | CA2317361609 | ELANE | c.619G= (p.Val207=) | |
| 19 | g.855979G>T | CA402918924 | ELANE | c.619G>T (p.Val207Phe) | ClinVar dbSNP |
| 19 | g.855980T>A | CA402918926 | ELANE | c.620T>A (p.Val207Asp) | |
| 19 | g.855980T>C | CA402918927 | ELANE | c.620T>C (p.Val207Ala) | dbSNP |
| 19 | g.855980T>G | CA402918929 | ELANE | c.620T>G (p.Val207Gly) | |
| 19 | g.855981C>A | CA504686406 | ELANE | c.621C>A (p.Val207=) | |
| 19 | g.855981C= | CA2317361610 | ELANE | c.621C= (p.Val207=) | |
| 19 | g.855981C>G | CA504686408 | ELANE | c.621C>G (p.Val207=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.855981C>T | CA504686410 | ELANE | c.621C>T (p.Val207=) | gnomAD v4 |
| 19 | g.855982T>A | CA402918931 | ELANE | c.622T>A (p.Cys208Ser) | |
| 19 | g.855982T>C | CA402918932 | ELANE | c.622T>C (p.Cys208Arg) | |
| 19 | g.855982T>G | CA402918933 | ELANE | c.622T>G (p.Cys208Gly) | ClinVar dbSNP |
| 19 | g.855983G>A | CA402918935 | ELANE | c.623G>A (p.Cys208Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855983G>C | CA402918937 | ELANE | c.623G>C (p.Cys208Ser) | |
| 19 | g.855983G= | CA2317361611 | ELANE | c.623G= (p.Cys208=) | |
| 19 | g.855983G>T | CA402918939 | ELANE | c.623G>T (p.Cys208Phe) | ClinVar dbSNP |
| 19 | g.855984C>A | CA402918940 | ELANE | c.624C>A (p.Cys208Ter) | |
| 19 | g.855984C= | CA2317361612 | ELANE | c.624C= (p.Cys208=) | |
| 19 | g.855984C>G | CA402918941 | ELANE | c.624C>G (p.Cys208Trp) | |
| 19 | g.855984C>T | CA504686421 | ELANE | c.624C>T (p.Cys208=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.855985A>C | CA402918942 | ELANE | c.625A>C (p.Asn209His) | |
| 19 | g.855985A>G | CA402918943 | ELANE | c.625A>G (p.Asn209Asp) | |
| 19 | g.855985A>T | CA402918945 | ELANE | c.625A>T (p.Asn209Tyr) | |
| 19 | g.855986A>C | CA402918947 | ELANE | c.626A>C (p.Asn209Thr) | |
| 19 | g.855986A>G | CA402918948 | ELANE | c.626A>G (p.Asn209Ser) | |
| 19 | g.855986A>T | CA402918949 | ELANE | c.626A>T (p.Asn209Ile) | COSMIC |
| 19 | g.855987C>A | CA402918950 | ELANE | c.627C>A (p.Asn209Lys) | dbSNP |
| 19 | g.855987C= | CA2317361613 | ELANE | c.627C= (p.Asn209=) | |
| 19 | g.855987C>G | CA303945245 | ELANE | c.627C>G (p.Asn209Lys) | dbSNP |
| 19 | g.855987C>T | CA9026122 | ELANE | c.627C>T (p.Asn209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855988G>A | CA9026123 | ELANE | c.628G>A (p.Gly210Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855988G>C | CA402918954 | ELANE | c.628G>C (p.Gly210Arg) | gnomAD v4 |
| 19 | g.855988G= | CA2317361614 | ELANE | c.628G= (p.Gly210=) | |
| 19 | g.855988G>T | CA402918955 | ELANE | c.628G>T (p.Gly210Trp) | |
| 19 | g.855989G>A | CA402918958 | ELANE | c.629G>A (p.Gly210Glu) | COSMIC |
| 19 | g.855989G>C | CA402918960 | ELANE | c.629G>C (p.Gly210Ala) | |
| 19 | g.855989G>T | CA402918957 | ELANE | c.629G>T (p.Gly210Val) | |
| 19 | g.855990G>A | CA504686444 | ELANE | c.630G>A (p.Gly210=) | ClinVar dbSNP |
| 19 | g.855990G>C | CA504686445 | ELANE | c.630G>C (p.Gly210=) | |
| 19 | g.855990G= | CA2317361615 | ELANE | c.630G= (p.Gly210=) | |
| 19 | g.855990G>T | CA504686446 | ELANE | c.630G>T (p.Gly210=) | |
| 19 | g.855991C>A | CA402918961 | ELANE | c.631C>A (p.Leu211Ile) | |
| 19 | g.855991C= | CA2317361616 | ELANE | c.631C= (p.Leu211=) | |
| 19 | g.855991C>G | CA402918962 | ELANE | c.631C>G (p.Leu211Val) | |
| 19 | g.855991C>T | CA504686452 | ELANE | c.631C>T (p.Leu211=) | dbSNP |
| 19 | g.855992T>A | CA402918964 | ELANE | c.632T>A (p.Leu211Gln) | gnomAD v4 |
| 19 | g.855992T>C | CA402918966 | ELANE | c.632T>C (p.Leu211Pro) | |
| 19 | g.855992T>G | CA402918967 | ELANE | c.632T>G (p.Leu211Arg) | |
| 19 | g.855993A>C | CA504686460 | ELANE | c.633A>C (p.Leu211=) | |
| 19 | g.855993A>G | CA504686464 | ELANE | c.633A>G (p.Leu211=) | |
| 19 | g.855993A>T | CA504686461 | ELANE | c.633A>T (p.Leu211=) | |
| 19 | g.855994A= | CA2317361617 | ELANE | c.634A= (p.Ile212=) | |
| 19 | g.855994A>C | CA402918970 | ELANE | c.634A>C (p.Ile212Leu) | |
| 19 | g.855994A>G | CA402918971 | ELANE | c.634A>G (p.Ile212Val) | ClinVar dbSNP |
| 19 | g.855994A>T | CA402918973 | ELANE | c.634A>T (p.Ile212Phe) | |
| 19 | g.855995T>A | CA402918975 | ELANE | c.635T>A (p.Ile212Asn) | |
| 19 | g.855995T>C | CA402918977 | ELANE | c.635T>C (p.Ile212Thr) | |
| 19 | g.855995T>G | CA402918978 | ELANE | c.635T>G (p.Ile212Ser) | |
| 19 | g.855996C>A | CA504686478 | ELANE | c.636C>A (p.Ile212=) | ClinVar |
| 19 | g.855996C= | CA2317361618 | ELANE | c.636C= (p.Ile212=) | |
| 19 | g.855996C>G | CA402918980 | ELANE | c.636C>G (p.Ile212Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.855996C>T | CA504686480 | ELANE | c.636C>T (p.Ile212=) | gnomAD v4 |
| 19 | g.855997C>A | CA402918983 | ELANE | c.637C>A (p.His213Asn) | |
| 19 | g.855997C= | CA2317361619 | ELANE | c.637C= (p.His213=) | |
| 19 | g.855997C>G | CA402918984 | ELANE | c.637C>G (p.His213Asp) | |
| 19 | g.855997C>T | CA9026124 | ELANE | c.637C>T (p.His213Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855998A>C | CA402918986 | ELANE | c.638A>C (p.His213Pro) | |
| 19 | g.855998A>G | CA402918988 | ELANE | c.638A>G (p.His213Arg) | gnomAD v4 |
| 19 | g.855998A>T | CA402918990 | ELANE | c.638A>T (p.His213Leu) | |
| 19 | g.855999del | CA2740091835 | ELANE | c.639del (p.His213GlnfsTer27) | ClinVar |
| 19 | g.855999C>A | CA9026125 | ELANE | c.639C>A (p.His213Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855999C= | CA2317361620 | ELANE | c.639C= (p.His213=) | |
| 19 | g.855999C>G | CA402918993 | ELANE | c.639C>G (p.His213Gln) | |
| 19 | g.855999C>T | CA9026126 | ELANE | c.639C>T (p.His213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856000G>A | CA281059 | ELANE | c.640G>A (p.Gly214Arg) | ClinVar dbSNP COSMIC |
| 19 | g.856000G>C | CA402918995 | ELANE | c.640G>C (p.Gly214Arg) | ClinVar |
| 19 | g.856000G= | CA2317361621 | ELANE | c.640G= (p.Gly214=) | |
| 19 | g.856000G>T | CA402918996 | ELANE | c.640G>T (p.Gly214Ter) | dbSNP |
| 19 | g.856001del | CA2695227816 | ELANE | c.641del (p.Gly214GlufsTer26) | |
| 19 | g.856001G>A | CA402918999 | ELANE | c.641G>A (p.Gly214Glu) | ClinVar dbSNP |
| 19 | g.856001G>C | CA402919001 | ELANE | c.641G>C (p.Gly214Ala) | |
| 19 | g.856001G= | CA2317361622 | ELANE | c.641G= (p.Gly214=) | |
| 19 | g.856001G>T | CA402919002 | ELANE | c.641G>T (p.Gly214Val) | ClinVar dbSNP |
| 19 | g.856002A>C | CA504686499 | ELANE | c.642A>C (p.Gly214=) | |
| 19 | g.856002A>G | CA504686501 | ELANE | c.642A>G (p.Gly214=) | |
| 19 | g.856002A>T | CA504686497 | ELANE | c.642A>T (p.Gly214=) | |
| 19 | g.856003A= | CA2317361623 | ELANE | c.643A= (p.Ile215=) | |
| 19 | g.856003A>C | CA402919003 | ELANE | c.643A>C (p.Ile215Leu) | |
| 19 | g.856003A>G | CA402919005 | ELANE | c.643A>G (p.Ile215Val) | dbSNP |
| 19 | g.856003A>T | CA402919007 | ELANE | c.643A>T (p.Ile215Phe) | |
| 19 | g.856004T>A | CA402919009 | ELANE | c.644T>A (p.Ile215Asn) | ClinVar dbSNP |
| 19 | g.856004T>C | CA402919011 | ELANE | c.644T>C (p.Ile215Thr) | ClinVar gnomAD v4 |
| 19 | g.856004T>G | CA9026127 | ELANE | c.644T>G (p.Ile215Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.856004T= | CA2317361624 | ELANE | c.644T= (p.Ile215=) | |
| 19 | g.856005T>A | CA504686515 | ELANE | c.645T>A (p.Ile215=) | |
| 19 | g.856005T>C | CA504686518 | ELANE | c.645T>C (p.Ile215=) | gnomAD v4 |
| 19 | g.856005T>G | CA402919013 | ELANE | c.645T>G (p.Ile215Met) | |
| 19 | g.856006G>A | CA9026128 | ELANE | c.646G>A (p.Ala216Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.856006G>C | CA402919020 | ELANE | c.646G>C (p.Ala216Pro) | |
| 19 | g.856006G= | CA2317361625 | ELANE | c.646G= (p.Ala216=) | |
| 19 | g.856006G>T | CA402919016 | ELANE | c.646G>T (p.Ala216Ser) | |
| 19 | g.856007C>A | CA9026129 | ELANE | c.647C>A (p.Ala216Asp) | dbSNP ExAC gnomAD v2 |
| 19 | g.856007C= | CA2317361626 | ELANE | c.647C= (p.Ala216=) | |
| 19 | g.856007C>G | CA402919023 | ELANE | c.647C>G (p.Ala216Gly) | |
| 19 | g.856007C>T | CA402919025 | ELANE | c.647C>T (p.Ala216Val) | ClinVar dbSNP |
| 19 | g.856008C>A | CA504686531 | ELANE | c.648C>A (p.Ala216=) | |
| 19 | g.856008C= | CA2317361627 | ELANE | c.648C= (p.Ala216=) | |
| 19 | g.856008C>G | CA504686533 | ELANE | c.648C>G (p.Ala216=) | dbSNP |
| 19 | g.856008C>T | CA9026130 | ELANE | c.648C>T (p.Ala216=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856009del | CA2695227817 | ELANE | c.649del (p.Ser217ProfsTer23) | |
| 19 | g.856009T>A | CA402919028 | ELANE | c.649T>A (p.Ser217Thr) | |
| 19 | g.856009T>C | CA402919030 | ELANE | c.649T>C (p.Ser217Pro) | |
| 19 | g.856009T>G | CA402919032 | ELANE | c.649T>G (p.Ser217Ala) | |
| 19 | g.856010C>A | CA402919038 | ELANE | c.650C>A (p.Ser217Tyr) | |
| 19 | g.856010C>G | CA402919034 | ELANE | c.650C>G (p.Ser217Cys) | |
| 19 | g.856010C>T | CA402919036 | ELANE | c.650C>T (p.Ser217Phe) | |
| 19 | g.856011C>A | CA504686555 | ELANE | c.651C>A (p.Ser217=) | |
| 19 | g.856011C>G | CA504686556 | ELANE | c.651C>G (p.Ser217=) | |
| 19 | g.856011C>T | CA504686560 | ELANE | c.651C>T (p.Ser217=) | gnomAD v4 |
| 19 | g.856012T>A | CA402919039 | ELANE | c.652T>A (p.Phe218Ile) | |
| 19 | g.856012T>C | CA303945275 | ELANE | c.652T>C (p.Phe218Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.856012T>G | CA402919041 | ELANE | c.652T>G (p.Phe218Val) | |
| 19 | g.856012T= | CA2317361628 | ELANE | c.652T= (p.Phe218=) | |
| 19 | g.856013T>A | CA402919043 | ELANE | c.653T>A (p.Phe218Tyr) | |
| 19 | g.856013T>C | CA402919044 | ELANE | c.653T>C (p.Phe218Ser) | |
| 19 | g.856013T>G | CA402919046 | ELANE | c.653T>G (p.Phe218Cys) | |
| 19 | g.856014C>A | CA402919047 | ELANE | c.654C>A (p.Phe218Leu) | |
| 19 | g.856014C= | CA2317361629 | ELANE | c.654C= (p.Phe218=) | |
| 19 | g.856014C>G | CA402919050 | ELANE | c.654C>G (p.Phe218Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.856014C>T | CA9026131 | ELANE | c.654C>T (p.Phe218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856015G>A | CA290726 | ELANE | c.655G>A (p.Val219Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856015G>C | CA9026133 | ELANE | c.655G>C (p.Val219Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.856015G= | CA2317361630 | ELANE | c.655G= (p.Val219=) | |
| 19 | g.856015G>T | CA9026132 | ELANE | c.655G>T (p.Val219Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.856016del | CA2695227818 | ELANE | c.656del (p.Val219AlafsTer21) | |
| 19 | g.856016T>A | CA402919053 | ELANE | c.656T>A (p.Val219Asp) | |
| 19 | g.856016T>C | CA9026134 | ELANE | c.656T>C (p.Val219Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.856016T>G | CA402919056 | ELANE | c.656T>G (p.Val219Gly) | |
| 19 | g.856016T= | CA2317361631 | ELANE | c.656T= (p.Val219=) | |
| 19 | g.856017C>A | CA504686584 | ELANE | c.657C>A (p.Val219=) | |
| 19 | g.856017C>G | CA504686587 | ELANE | c.657C>G (p.Val219=) | |
| 19 | g.856017C>T | CA504686589 | ELANE | c.657C>T (p.Val219=) | gnomAD v4 |
| 19 | g.856018del | CA2695227819 | ELANE | c.658del (p.Arg220GlyfsTer20) | |
| 19 | g.856018C>A | CA504686592 | ELANE | c.658C>A (p.Arg220=) | gnomAD v4 |
| 19 | g.856018C= | CA2317361632 | ELANE | c.658C= (p.Arg220=) | |
| 19 | g.856018C>G | CA402919058 | ELANE | c.658C>G (p.Arg220Gly) | |
| 19 | g.856018C>T | CA9026135 | ELANE | c.658C>T (p.Arg220Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856019G>A | CA281044 | ELANE | c.659G>A (p.Arg220Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856019G>C | CA303945312 | ELANE | c.659G>C (p.Arg220Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.856019G= | CA2317361633 | ELANE | c.659G= (p.Arg220=) | |
| 19 | g.856019G>T | CA402919061 | ELANE | c.659G>T (p.Arg220Leu) | |
| 19 | g.856022dup | CA2587805403 | ELANE | c.662dup (p.Gly222ArgfsTer?) | gnomAD v4 |
| 19 | g.856022del | CA2695227820 | ELANE | c.662del (p.Gly221GlufsTer19) | |
| 19 | g.856020G>A | CA504686609 | ELANE | c.660G>A (p.Arg220=) | dbSNP |
| 19 | g.856020G>C | CA9026136 | ELANE | c.660G>C (p.Arg220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.856020G= | CA2317361634 | ELANE | c.660G= (p.Arg220=) | |
| 19 | g.856020G>T | CA504686612 | ELANE | c.660G>T (p.Arg220=) | |
| 19 | g.856021G>A | CA402919064 | ELANE | c.661G>A (p.Gly221Arg) | |
| 19 | g.856021G>C | CA402919068 | ELANE | c.661G>C (p.Gly221Arg) | |
| 19 | g.856021G= | CA2317361635 | ELANE | c.661G= (p.Gly221=) | |
| 19 | g.856021G>T | CA402919066 | ELANE | c.661G>T (p.Gly221Ter) | ClinVar dbSNP |
| 19 | g.856022G>A | CA402919070 | ELANE | c.662G>A (p.Gly221Glu) | |
| 19 | g.856022G>C | CA402919071 | ELANE | c.662G>C (p.Gly221Ala) | |
| 19 | g.856022G= | CA2317361636 | ELANE | c.662G= (p.Gly221=) | |
| 19 | g.856022G>T | CA9026137 | ELANE | c.662G>T (p.Gly221Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856023A>C | CA504686631 | ELANE | c.663A>C (p.Gly221=) | |
| 19 | g.856023A>G | CA504686635 | ELANE | c.663A>G (p.Gly221=) | |
| 19 | g.856023A>T | CA504686627 | ELANE | c.663A>T (p.Gly221=) | |
| 19 | g.856024G>A | CA402919073 | ELANE | c.664G>A (p.Gly222Ser) | ClinVar dbSNP |
| 19 | g.856024G>C | CA402919075 | ELANE | c.664G>C (p.Gly222Arg) | |
| 19 | g.856024G>T | CA402919076 | ELANE | c.664G>T (p.Gly222Cys) | ClinVar dbSNP |
| 19 | g.856025G>A | CA402919078 | ELANE | c.665G>A (p.Gly222Asp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.856025G>C | CA402919079 | ELANE | c.665G>C (p.Gly222Ala) | |
| 19 | g.856025G= | CA2317361637 | ELANE | c.665G= (p.Gly222=) | |
| 19 | g.856025G>T | CA402919081 | ELANE | c.665G>T (p.Gly222Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.856026C>A | CA504686646 | ELANE | c.666C>A (p.Gly222=) | |
| 19 | g.856026C>G | CA504686648 | ELANE | c.666C>G (p.Gly222=) | |
| 19 | g.856026C>T | CA504686650 | ELANE | c.666C>T (p.Gly222=) | |
| 19 | g.856027del | CA2695227821 | ELANE | c.667del (p.Cys223AlafsTer17) | |
| 19 | g.856027T>A | CA402919083 | ELANE | c.667T>A (p.Cys223Ser) | gnomAD v4 |
| 19 | g.856027T>C | CA402919084 | ELANE | c.667T>C (p.Cys223Arg) | |
| 19 | g.856027T>G | CA402919086 | ELANE | c.667T>G (p.Cys223Gly) | |
| 19 | g.856028G>A | CA402919091 | ELANE | c.668G>A (p.Cys223Tyr) | dbSNP |
| 19 | g.856028G>C | CA402919090 | ELANE | c.668G>C (p.Cys223Ser) | |
| 19 | g.856028G= | CA2317361638 | ELANE | c.668G= (p.Cys223=) | |
| 19 | g.856028G>T | CA402919088 | ELANE | c.668G>T (p.Cys223Phe) | |
| 19 | g.856030_856031del | CA915940693 | ELANE | c.670_671del (p.Ala224LeufsTer?) | |
| 19 | g.856029C>A | CA402919092 | ELANE | c.669C>A (p.Cys223Ter) | ClinVar dbSNP |
| 19 | g.856029C= | CA2317361639 | ELANE | c.669C= (p.Cys223=) | |
| 19 | g.856029C>G | CA402919094 | ELANE | c.669C>G (p.Cys223Trp) | |
| 19 | g.856029C>T | CA504686671 | ELANE | c.669C>T (p.Cys223=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.856029_856030delinsA | CA2695227822 | ELANE | c.669_670delinsA (p.Cys223Ter) | |
| 19 | g.856030G>A | CA402919096 | ELANE | c.670G>A (p.Ala224Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856030G>C | CA402919097 | ELANE | c.670G>C (p.Ala224Pro) | |
| 19 | g.856030G= | CA2317361640 | ELANE | c.670G= (p.Ala224=) | |
| 19 | g.856030G>T | CA402919098 | ELANE | c.670G>T (p.Ala224Ser) | |
| 19 | g.856031C>A | CA402919101 | ELANE | c.671C>A (p.Ala224Asp) | gnomAD v4 |
| 19 | g.856031C>G | CA402919103 | ELANE | c.671C>G (p.Ala224Gly) | |
| 19 | g.856031C>T | CA402919104 | ELANE | c.671C>T (p.Ala224Val) | |
| 19 | g.856032C>A | CA504686684 | ELANE | c.672C>A (p.Ala224=) | |
| 19 | g.856032C= | CA2317361641 | ELANE | c.672C= (p.Ala224=) | |
| 19 | g.856032C>G | CA504686687 | ELANE | c.672C>G (p.Ala224=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.856032C>T | CA303945339 | ELANE | c.672C>T (p.Ala224=) | dbSNP |
| 19 | g.856033T>A | CA402919107 | ELANE | c.673T>A (p.Ser225Thr) | |
| 19 | g.856033T>C | CA402919108 | ELANE | c.673T>C (p.Ser225Pro) | |
| 19 | g.856033T>G | CA402919110 | ELANE | c.673T>G (p.Ser225Ala) | |
| 19 | g.856034C>A | CA402919112 | ELANE | c.674C>A (p.Ser225Ter) | |
| 19 | g.856034C>G | CA402919115 | ELANE | c.674C>G (p.Ser225Ter) | |
| 19 | g.856034C>T | CA402919113 | ELANE | c.674C>T (p.Ser225Leu) | |
| 19 | g.856035A>C | CA504686704 | ELANE | c.675A>C (p.Ser225=) | gnomAD v4 |
| 19 | g.856035A>G | CA504686707 | ELANE | c.675A>G (p.Ser225=) | |
| 19 | g.856035A>T | CA504686710 | ELANE | c.675A>T (p.Ser225=) | |
| 19 | g.856036G>A | CA9026138 | ELANE | c.676G>A (p.Gly226Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.856036G>C | CA402919119 | ELANE | c.676G>C (p.Gly226Arg) | |
| 19 | g.856036G= | CA2317361642 | ELANE | c.676G= (p.Gly226=) | |
| 19 | g.856036G>T | CA402919118 | ELANE | c.676G>T (p.Gly226Trp) | |
| 19 | g.856037G>A | CA402919121 | ELANE | c.677G>A (p.Gly226Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.856037G>C | CA402919123 | ELANE | c.677G>C (p.Gly226Ala) | |
| 19 | g.856037G= | CA2317361643 | ELANE | c.677G= (p.Gly226=) | |
| 19 | g.856037G>T | CA402919125 | ELANE | c.677G>T (p.Gly226Val) | |
| 19 | g.856038G>A | CA504686723 | ELANE | c.678G>A (p.Gly226=) | gnomAD v4 |
| 19 | g.856038G>C | CA504686725 | ELANE | c.678G>C (p.Gly226=) | |
| 19 | g.856038G>T | CA504686727 | ELANE | c.678G>T (p.Gly226=) | |
| 19 | g.856039C>A | CA402919126 | ELANE | c.679C>A (p.Leu227Ile) | |
| 19 | g.856039C>G | CA402919128 | ELANE | c.679C>G (p.Leu227Val) | |
| 19 | g.856039C>T | CA402919130 | ELANE | c.679C>T (p.Leu227Phe) | |
| 19 | g.856040T>A | CA402919132 | ELANE | c.680T>A (p.Leu227His) | |
| 19 | g.856040T>C | CA402919133 | ELANE | c.680T>C (p.Leu227Pro) | gnomAD v4 |
| 19 | g.856040T>G | CA402919135 | ELANE | c.680T>G (p.Leu227Arg) | |
| 19 | g.856041C>A | CA504686741 | ELANE | c.681C>A (p.Leu227=) | |
| 19 | g.856041C= | CA2317361644 | ELANE | c.681C= (p.Leu227=) | |
| 19 | g.856041C>G | CA504686743 | ELANE | c.681C>G (p.Leu227=) | |
| 19 | g.856041C>T | CA504686745 | ELANE | c.681C>T (p.Leu227=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.856042T>A | CA402919136 | ELANE | c.682T>A (p.Tyr228Asn) | |
| 19 | g.856042T>C | CA402919137 | ELANE | c.682T>C (p.Tyr228His) | |
| 19 | g.856042T>G | CA402919139 | ELANE | c.682T>G (p.Tyr228Asp) | |
| 19 | g.856043A>C | CA402919142 | ELANE | c.683A>C (p.Tyr228Ser) | |
| 19 | g.856043A>G | CA402919140 | ELANE | c.683A>G (p.Tyr228Cys) | |
| 19 | g.856043A>T | CA402919141 | ELANE | c.683A>T (p.Tyr228Phe) | |
| 19 | g.856044C>A | CA402919144 | ELANE | c.684C>A (p.Tyr228Ter) | |
| 19 | g.856044C= | CA2317361645 | ELANE | c.684C= (p.Tyr228=) | |
| 19 | g.856044C>G | CA402919145 | ELANE | c.684C>G (p.Tyr228Ter) | |
| 19 | g.856044C>T | CA504686763 | ELANE | c.684C>T (p.Tyr228=) | dbSNP |
| 19 | g.856047del | CA2499225650 | ELANE | c.687del (p.Asp230MetfsTer10) | ClinVar dbSNP |
| 19 | g.856045C>A | CA402919147 | ELANE | c.685C>A (p.Pro229Thr) | |
| 19 | g.856045C>G | CA402919149 | ELANE | c.685C>G (p.Pro229Ala) | |
| 19 | g.856045C>T | CA402919150 | ELANE | c.685C>T (p.Pro229Ser) | |
| 19 | g.856046C>A | CA402919151 | ELANE | c.686C>A (p.Pro229His) | gnomAD v4 |
| 19 | g.856046C= | CA2317361646 | ELANE | c.686C= (p.Pro229=) | |
| 19 | g.856046C>G | CA9026139 | ELANE | c.686C>G (p.Pro229Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.856046C>T | CA402919154 | ELANE | c.686C>T (p.Pro229Leu) | |
| 19 | g.856047C>A | CA504686780 | ELANE | c.687C>A (p.Pro229=) | |
| 19 | g.856047C= | CA2317361647 | ELANE | c.687C= (p.Pro229=) | |
| 19 | g.856047C>G | CA9026140 | ELANE | c.687C>G (p.Pro229=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.856047C>T | CA9026141 | ELANE | c.687C>T (p.Pro229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856048del | CA2695227823 | ELANE | c.688del (p.Asp230MetfsTer10) | |
| 19 | g.856048G>A | CA9026142 | ELANE | c.688G>A (p.Asp230Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.856048G>C | CA402919159 | ELANE | c.688G>C (p.Asp230His) | ClinVar gnomAD v4 |
| 19 | g.856048G= | CA2317361648 | ELANE | c.688G= (p.Asp230=) | |
| 19 | g.856048G>T | CA402919157 | ELANE | c.688G>T (p.Asp230Tyr) | gnomAD v3 gnomAD v4 |
| 19 | g.856049A>C | CA402919161 | ELANE | c.689A>C (p.Asp230Ala) | |
| 19 | g.856049A>G | CA402919163 | ELANE | c.689A>G (p.Asp230Gly) | |
| 19 | g.856049A>T | CA402919164 | ELANE | c.689A>T (p.Asp230Val) | |
| 19 | g.856050T>A | CA402919166 | ELANE | c.690T>A (p.Asp230Glu) | dbSNP |
| 19 | g.856050T>C | CA504686801 | ELANE | c.690T>C (p.Asp230=) | dbSNP |
| 19 | g.856050T>G | CA402919168 | ELANE | c.690T>G (p.Asp230Glu) | |
| 19 | g.856050T= | CA2317361649 | ELANE | c.690T= (p.Asp230=) | |
| 19 | g.856051G>A | CA402919170 | ELANE | c.691G>A (p.Ala231Thr) | gnomAD v4 |
| 19 | g.856051G>C | CA402919171 | ELANE | c.691G>C (p.Ala231Pro) | |
| 19 | g.856051G>T | CA402919173 | ELANE | c.691G>T (p.Ala231Ser) | |
| 19 | g.856052C>A | CA402919175 | ELANE | c.692C>A (p.Ala231Asp) | gnomAD v4 |
| 19 | g.856052C= | CA2317361650 | ELANE | c.692C= (p.Ala231=) | |
| 19 | g.856052C>G | CA402919177 | ELANE | c.692C>G (p.Ala231Gly) | |
| 19 | g.856052C>T | CA9026143 | ELANE | c.692C>T (p.Ala231Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856053C>A | CA303945364 | ELANE | c.693C>A (p.Ala231=) | dbSNP gnomAD v4 |
| 19 | g.856053C= | CA2317361651 | ELANE | c.693C= (p.Ala231=) | |
| 19 | g.856053C>G | CA504686821 | ELANE | c.693C>G (p.Ala231=) | ClinVar |
| 19 | g.856053C>T | CA504686824 | ELANE | c.693C>T (p.Ala231=) | gnomAD v4 |
| 19 | g.856054T>A | CA402919183 | ELANE | c.694T>A (p.Phe232Ile) | |
| 19 | g.856054T>C | CA402919181 | ELANE | c.694T>C (p.Phe232Leu) | |
| 19 | g.856054T>G | CA402919182 | ELANE | c.694T>G (p.Phe232Val) | gnomAD v4 |
| 19 | g.856055T>A | CA402919185 | ELANE | c.695T>A (p.Phe232Tyr) | |
| 19 | g.856055T>C | CA402919187 | ELANE | c.695T>C (p.Phe232Ser) | gnomAD v4 |
| 19 | g.856055T>G | CA402919189 | ELANE | c.695T>G (p.Phe232Cys) | |
| 19 | g.856056T>A | CA402919191 | ELANE | c.696T>A (p.Phe232Leu) | |
| 19 | g.856056T>C | CA504686839 | ELANE | c.696T>C (p.Phe232=) | |
| 19 | g.856056T>G | CA402919192 | ELANE | c.696T>G (p.Phe232Leu) | |
| 19 | g.856057del | CA2695227824 | ELANE | c.697del (p.Ala233ProfsTer7) | |
| 19 | g.856057G>A | CA402919193 | ELANE | c.697G>A (p.Ala233Thr) | COSMIC |
| 19 | g.856057G>C | CA402919195 | ELANE | c.697G>C (p.Ala233Pro) | |
| 19 | g.856057G= | CA2317361652 | ELANE | c.697G= (p.Ala233=) | |
| 19 | g.856057G>T | CA9026144 | ELANE | c.697G>T (p.Ala233Ser) | dbSNP ExAC gnomAD v2 |
| 19 | g.856058C>A | CA402919198 | ELANE | c.698C>A (p.Ala233Asp) | |
| 19 | g.856058C>G | CA402919199 | ELANE | c.698C>G (p.Ala233Gly) | gnomAD v4 |
| 19 | g.856058C>T | CA402919201 | ELANE | c.698C>T (p.Ala233Val) | ClinVar |
| 19 | g.856061del | CA2695227825 | ELANE | c.701del (p.Pro234ArgfsTer6) | |
| 19 | g.856059C>A | CA504686855 | ELANE | c.699C>A (p.Ala233=) | |
| 19 | g.856059C>G | CA504686856 | ELANE | c.699C>G (p.Ala233=) | |
| 19 | g.856059C>T | CA504686860 | ELANE | c.699C>T (p.Ala233=) | gnomAD v4 |
| 19 | g.856060C>A | CA402919207 | ELANE | c.700C>A (p.Pro234Thr) | |
| 19 | g.856060C>G | CA402919205 | ELANE | c.700C>G (p.Pro234Ala) | |
| 19 | g.856060C>T | CA402919203 | ELANE | c.700C>T (p.Pro234Ser) | gnomAD v4 |
| 19 | g.856060_856061delinsTT | CA645613905 | ELANE | c.700_701delinsTT (p.Pro234Leu) | COSMIC |
| 19 | g.856061C>A | CA402919209 | ELANE | c.701C>A (p.Pro234Gln) | |
| 19 | g.856061C= | CA2317361653 | ELANE | c.701C= (p.Pro234=) | |
| 19 | g.856061C>G | CA402919210 | ELANE | c.701C>G (p.Pro234Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.856061C>T | CA9026145 | ELANE | c.701C>T (p.Pro234Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856062G>A | CA9026147 | ELANE | c.702G>A (p.Pro234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856062G>C | CA504686877 | ELANE | c.702G>C (p.Pro234=) | |
| 19 | g.856062G= | CA2317361654 | ELANE | c.702G= (p.Pro234=) | |
| 19 | g.856062G>T | CA9026146 | ELANE | c.702G>T (p.Pro234=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.856063del | CA2695227826 | ELANE | c.703del (p.Val235TrpfsTer5) | |
| 19 | g.856063G>A | CA402919213 | ELANE | c.703G>A (p.Val235Met) | |
| 19 | g.856063G>C | CA402919214 | ELANE | c.703G>C (p.Val235Leu) | |
| 19 | g.856063G>T | CA402919215 | ELANE | c.703G>T (p.Val235Leu) | gnomAD v4 |
| 19 | g.856064T>A | CA402919216 | ELANE | c.704T>A (p.Val235Glu) | |
| 19 | g.856064T>C | CA402919218 | ELANE | c.704T>C (p.Val235Ala) | dbSNP |
| 19 | g.856064T>G | CA402919220 | ELANE | c.704T>G (p.Val235Gly) | |
| 19 | g.856064T= | CA2317361655 | ELANE | c.704T= (p.Val235=) | |
| 19 | g.856065G>A | CA504686892 | ELANE | c.705G>A (p.Val235=) | dbSNP gnomAD v2 |
| 19 | g.856065G>C | CA504686890 | ELANE | c.705G>C (p.Val235=) | |
| 19 | g.856065G= | CA2317361656 | ELANE | c.705G= (p.Val235=) | |
| 19 | g.856065G>T | CA504686891 | ELANE | c.705G>T (p.Val235=) | |
| 19 | g.856066G>A | CA402919222 | ELANE | c.706G>A (p.Ala236Thr) | gnomAD v4 |
| 19 | g.856066G>C | CA402919224 | ELANE | c.706G>C (p.Ala236Pro) | |
| 19 | g.856066G= | CA2317361657 | ELANE | c.706G= (p.Ala236=) | |
| 19 | g.856066G>T | CA402919226 | ELANE | c.706G>T (p.Ala236Ser) | dbSNP |
| 19 | g.856067C>A | CA402919227 | ELANE | c.707C>A (p.Ala236Glu) | |
| 19 | g.856067C>G | CA402919229 | ELANE | c.707C>G (p.Ala236Gly) | |
| 19 | g.856067C>T | CA402919230 | ELANE | c.707C>T (p.Ala236Val) | gnomAD v4 |
| 19 | g.856068A>C | CA504686904 | ELANE | c.708A>C (p.Ala236=) | |
| 19 | g.856068A>G | CA504686901 | ELANE | c.708A>G (p.Ala236=) | |
| 19 | g.856068A>T | CA504686899 | ELANE | c.708A>T (p.Ala236=) | |
| 19 | g.856069C>A | CA402919233 | ELANE | c.709C>A (p.Gln237Lys) | |
| 19 | g.856069C>G | CA402919236 | ELANE | c.709C>G (p.Gln237Glu) | |
| 19 | g.856069C>T | CA402919234 | ELANE | c.709C>T (p.Gln237Ter) |