19 | g.855607_855613del | CA2740091832 | ELANE | c.410_416del (p.Gln137ArgfsTer?)
| ClinVar |
19 | g.855607A= | CA2317361366 | ELANE | c.410A= (p.Gln137=)
| |
19 | g.855607A>C | CA402917916 | ELANE | c.410A>C (p.Gln137Pro)
| |
19 | g.855607A>G | CA402917917 | ELANE | c.410A>G (p.Gln137Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855607A>T | CA402917919 | ELANE | c.410A>T (p.Gln137Leu)
| |
19 | g.855608G>A | CA504881852 | ELANE | c.411G>A (p.Gln137=)
| gnomAD v4 |
19 | g.855608G>C | CA402917923 | ELANE | c.411G>C (p.Gln137His)
| ClinVar |
19 | g.855608G>T | CA402917925 | ELANE | c.411G>T (p.Gln137His)
| gnomAD v4 |
19 | g.855609C>A | CA402917927 | ELANE | c.412C>A (p.Leu138Met)
| gnomAD v4 |
19 | g.855609C>G | CA402917929 | ELANE | c.412C>G (p.Leu138Val)
| |
19 | g.855609C>T | CA504881854 | ELANE | c.412C>T (p.Leu138=)
| gnomAD v4 |
19 | g.855610T>A | CA402917932 | ELANE | c.413T>A (p.Leu138Gln)
| ClinVar |
19 | g.855610T>C | CA402917933 | ELANE | c.413T>C (p.Leu138Pro)
| gnomAD v4 |
19 | g.855610T>G | CA402917935 | ELANE | c.413T>G (p.Leu138Arg)
| |
19 | g.855611G>A | CA504881856 | ELANE | c.414G>A (p.Leu138=)
| gnomAD v4 |
19 | g.855611G>C | CA504881857 | ELANE | c.414G>C (p.Leu138=)
| |
19 | g.855611G>T | CA504881858 | ELANE | c.414G>T (p.Leu138=)
| gnomAD v4 |
19 | g.855612C>A | CA402917937 | ELANE | c.415C>A (p.Pro139Thr)
| gnomAD v4 |
19 | g.855612C>G | CA402917940 | ELANE | c.415C>G (p.Pro139Ala)
| gnomAD v4 |
19 | g.855612C>T | CA402917942 | ELANE | c.415C>T (p.Pro139Ser)
| gnomAD v4 |
19 | g.855613C>A | CA402917943 | ELANE | c.416C>A (p.Pro139Gln)
| |
19 | g.855613C= | CA2317361367 | ELANE | c.416C= (p.Pro139=)
| |
19 | g.855613C>G | CA402917946 | ELANE | c.416C>G (p.Pro139Arg)
| ClinVar |
19 | g.855613C>T | CA281050 | ELANE | c.416C>T (p.Pro139Leu)
| ClinVar dbSNP gnomAD v4 |
19 | g.855614G>A | CA9026049 | ELANE | c.417G>A (p.Pro139=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855614G>C | CA9026050 | ELANE | c.417G>C (p.Pro139=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855614G= | CA2317361368 | ELANE | c.417G= (p.Pro139=)
| |
19 | g.855614G>T | CA504881860 | ELANE | c.417G>T (p.Pro139=)
| gnomAD v4 |
19 | g.855615G>A | CA402917953 | ELANE | c.418G>A (p.Ala140Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.855615G>C | CA402917956 | ELANE | c.418G>C (p.Ala140Pro)
| |
19 | g.855615G= | CA2317361369 | ELANE | c.418G= (p.Ala140=)
| |
19 | g.855615G>T | CA9026051 | ELANE | c.418G>T (p.Ala140Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855616C>A | CA402917959 | ELANE | c.419C>A (p.Ala140Asp)
| gnomAD v4 |
19 | g.855616C= | CA2317361370 | ELANE | c.419C= (p.Ala140=)
| |
19 | g.855616C>G | CA402917964 | ELANE | c.419C>G (p.Ala140Gly)
| |
19 | g.855616C>T | CA9026052 | ELANE | c.419C>T (p.Ala140Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855617T>A | CA9026053 | ELANE | c.420T>A (p.Ala140=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855617T>C | CA504881861 | ELANE | c.420T>C (p.Ala140=)
| |
19 | g.855617T>G | CA504881862 | ELANE | c.420T>G (p.Ala140=)
| |
19 | g.855617T= | CA2317361371 | ELANE | c.420T= (p.Ala140=)
| |
19 | g.855618C>A | CA402917966 | ELANE | c.421C>A (p.Gln141Lys)
| |
19 | g.855618C>G | CA402917969 | ELANE | c.421C>G (p.Gln141Glu)
| COSMIC |
19 | g.855618C>T | CA402917972 | ELANE | c.421C>T (p.Gln141Ter)
| gnomAD v4 |
19 | g.855619A= | CA2317361372 | ELANE | c.422A= (p.Gln141=)
| |
19 | g.855619A>C | CA402917974 | ELANE | c.422A>C (p.Gln141Pro)
| |
19 | g.855619A>G | CA402917975 | ELANE | c.422A>G (p.Gln141Arg)
| dbSNP |
19 | g.855619A>T | CA402917977 | ELANE | c.422A>T (p.Gln141Leu)
| |
19 | g.855620G>A | CA504881863 | ELANE | c.423G>A (p.Gln141=)
| gnomAD v4 |
19 | g.855620G>C | CA9026054 | ELANE | c.423G>C (p.Gln141His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855620G= | CA2317361373 | ELANE | c.423G= (p.Gln141=)
| |
19 | g.855620G>T | CA402917981 | ELANE | c.423G>T (p.Gln141His)
| gnomAD v4 |
19 | g.855622del | CA2587805314 | ELANE | c.425del (p.Gly142AspfsTer?)
| gnomAD v4 |
19 | g.855621G>A | CA402917983 | ELANE | c.424G>A (p.Gly142Arg)
| |
19 | g.855621G>C | CA402917984 | ELANE | c.424G>C (p.Gly142Arg)
| |
19 | g.855621G>T | CA402917986 | ELANE | c.424G>T (p.Gly142Ter)
| gnomAD v4 |
19 | g.855622G>A | CA402917988 | ELANE | c.425G>A (p.Gly142Glu)
| |
19 | g.855622G>C | CA402917992 | ELANE | c.425G>C (p.Gly142Ala)
| |
19 | g.855622G>T | CA402917990 | ELANE | c.425G>T (p.Gly142Val)
| gnomAD v4 |
19 | g.855623A= | CA2317361374 | ELANE | c.426A= (p.Gly142=)
| |
19 | g.855623A>C | CA504881865 | ELANE | c.426A>C (p.Gly142=)
| |
19 | g.855623A>G | CA303944760 | ELANE | c.426A>G (p.Gly142=)
| dbSNP |
19 | g.855623A>T | CA504881864 | ELANE | c.426A>T (p.Gly142=)
| |
19 | g.855624C>A | CA402917994 | ELANE | c.427C>A (p.Arg143Ser)
| |
19 | g.855624C= | CA2317361375 | ELANE | c.427C= (p.Arg143=)
| |
19 | g.855624C>G | CA402917996 | ELANE | c.427C>G (p.Arg143Gly)
| |
19 | g.855624C>T | CA9026055 | ELANE | c.427C>T (p.Arg143Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855628_855630del | CA2587805315 | ELANE | c.431_433del (p.Arg144del)
| gnomAD v4 |
19 | g.855625G>A | CA9026056 | ELANE | c.428G>A (p.Arg143His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855625G>C | CA402918003 | ELANE | c.428G>C (p.Arg143Pro)
| |
19 | g.855625G= | CA2317361376 | ELANE | c.428G= (p.Arg143=)
| |
19 | g.855625G>T | CA9026057 | ELANE | c.428G>T (p.Arg143Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855626C>A | CA504881866 | ELANE | c.429C>A (p.Arg143=)
| dbSNP gnomAD v4 |
19 | g.855626C= | CA2317361377 | ELANE | c.429C= (p.Arg143=)
| |
19 | g.855626C>G | CA504881868 | ELANE | c.429C>G (p.Arg143=)
| |
19 | g.855626C>T | CA504881870 | ELANE | c.429C>T (p.Arg143=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855627C>A | CA402918006 | ELANE | c.430C>A (p.Arg144Ser)
| |
19 | g.855627C= | CA2317361378 | ELANE | c.430C= (p.Arg144=)
| |
19 | g.855627C>G | CA402918008 | ELANE | c.430C>G (p.Arg144Gly)
| |
19 | g.855627C>T | CA9026058 | ELANE | c.430C>T (p.Arg144Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855628G>A | CA9026059 | ELANE | c.431G>A (p.Arg144His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855628G>C | CA402918014 | ELANE | c.431G>C (p.Arg144Pro)
| |
19 | g.855628G= | CA2317361379 | ELANE | c.431G= (p.Arg144=)
| |
19 | g.855628G>T | CA402918011 | ELANE | c.431G>T (p.Arg144Leu)
| gnomAD v4 |
19 | g.855634_855654dup | CA2573155744 | ELANE | c.437_457dup (p.Leu152_Ala153insGlyAsnGlyValGlnCysLeu)
| ClinVar dbSNP |
19 | g.855629C>A | CA504881872 | ELANE | c.432C>A (p.Arg144=)
| |
19 | g.855629C= | CA2317361380 | ELANE | c.432C= (p.Arg144=)
| |
19 | g.855629C>G | CA504881873 | ELANE | c.432C>G (p.Arg144=)
| |
19 | g.855629C>T | CA504881874 | ELANE | c.432C>T (p.Arg144=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855630C>A | CA402918015 | ELANE | c.433C>A (p.Leu145Met)
| |
19 | g.855630C= | CA2317361381 | ELANE | c.433C= (p.Leu145=)
| |
19 | g.855630C>G | CA402918016 | ELANE | c.433C>G (p.Leu145Val)
| gnomAD v4 |
19 | g.855630C>T | CA9026060 | ELANE | c.433C>T (p.Leu145=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855631T>A | CA402918018 | ELANE | c.434T>A (p.Leu145Gln)
| |
19 | g.855631T>C | CA402918021 | ELANE | c.434T>C (p.Leu145Pro)
| |
19 | g.855631T>G | CA402918023 | ELANE | c.434T>G (p.Leu145Arg)
| |
19 | g.855632G>A | CA504881878 | ELANE | c.435G>A (p.Leu145=)
| |
19 | g.855632G>C | CA303944780 | ELANE | c.435G>C (p.Leu145=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855632G= | CA2317361382 | ELANE | c.435G= (p.Leu145=)
| |
19 | g.855632G>T | CA504881879 | ELANE | c.435G>T (p.Leu145=)
| gnomAD v4 |
19 | g.855634del | CA2587805316 | ELANE | c.437del (p.Gly146AlafsTer29)
| gnomAD v4 |
19 | g.855633G>A | CA402918029 | ELANE | c.436G>A (p.Gly146Ser)
| |
19 | g.855633G>C | CA402918025 | ELANE | c.436G>C (p.Gly146Arg)
| |
19 | g.855633G>T | CA402918028 | ELANE | c.436G>T (p.Gly146Cys)
| gnomAD v4 |
19 | g.855634G>A | CA10583961 | ELANE | c.437G>A (p.Gly146Asp)
| ClinVar dbSNP gnomAD v4 |
19 | g.855634G>C | CA402918033 | ELANE | c.437G>C (p.Gly146Ala)
| |
19 | g.855634G= | CA2317361383 | ELANE | c.437G= (p.Gly146=)
| |
19 | g.855634G>T | CA402918035 | ELANE | c.437G>T (p.Gly146Val)
| |
19 | g.855635C>A | CA9026062 | ELANE | c.438C>A (p.Gly146=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855635C= | CA2317361384 | ELANE | c.438C= (p.Gly146=)
| |
19 | g.855635C>G | CA504881882 | ELANE | c.438C>G (p.Gly146=)
| |
19 | g.855635C>T | CA9026061 | ELANE | c.438C>T (p.Gly146=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855636A>C | CA402918042 | ELANE | c.439A>C (p.Asn147His)
| |
19 | g.855636A>G | CA402918047 | ELANE | c.439A>G (p.Asn147Asp)
| |
19 | g.855636A>T | CA402918045 | ELANE | c.439A>T (p.Asn147Tyr)
| |
19 | g.855637A= | CA2317361385 | ELANE | c.440A= (p.Asn147=)
| |
19 | g.855637A>C | CA402918049 | ELANE | c.440A>C (p.Asn147Thr)
| |
19 | g.855637A>G | CA402918052 | ELANE | c.440A>G (p.Asn147Ser)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855637A>T | CA402918054 | ELANE | c.440A>T (p.Asn147Ile)
| dbSNP |
19 | g.855638C>A | CA402918058 | ELANE | c.441C>A (p.Asn147Lys)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855638C= | CA2317361386 | ELANE | c.441C= (p.Asn147=)
| |
19 | g.855638C>G | CA402918061 | ELANE | c.441C>G (p.Asn147Lys)
| ClinVar |
19 | g.855638C>T | CA9026063 | ELANE | c.441C>T (p.Asn147=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855639G>A | CA9026064 | ELANE | c.442G>A (p.Gly148Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855639G>C | CA402918066 | ELANE | c.442G>C (p.Gly148Arg)
| gnomAD v4 |
19 | g.855639G= | CA2317361387 | ELANE | c.442G= (p.Gly148=)
| |
19 | g.855639G>T | CA402918069 | ELANE | c.442G>T (p.Gly148Trp)
| dbSNP gnomAD v4 |
19 | g.855640G>A | CA402918072 | ELANE | c.443G>A (p.Gly148Glu)
| ClinVar dbSNP gnomAD v2 |
19 | g.855640G>C | CA402918074 | ELANE | c.443G>C (p.Gly148Ala)
| |
19 | g.855640G= | CA2317361388 | ELANE | c.443G= (p.Gly148=)
| |
19 | g.855640G>T | CA402918077 | ELANE | c.443G>T (p.Gly148Val)
| gnomAD v4 |
19 | g.855641G>A | CA504881887 | ELANE | c.444G>A (p.Gly148=)
| gnomAD v4 |
19 | g.855641G>C | CA504881888 | ELANE | c.444G>C (p.Gly148=)
| |
19 | g.855641G>T | CA504881889 | ELANE | c.444G>T (p.Gly148=)
| gnomAD v4 |
19 | g.855642G>A | CA402918082 | ELANE | c.445G>A (p.Val149Met)
| gnomAD v4 |
19 | g.855642G>C | CA402918084 | ELANE | c.445G>C (p.Val149Leu)
| gnomAD v4 |
19 | g.855642G>T | CA402918080 | ELANE | c.445G>T (p.Val149Leu)
| gnomAD v4 |
19 | g.855643T>A | CA402918087 | ELANE | c.446T>A (p.Val149Glu)
| |
19 | g.855643T>C | CA402918092 | ELANE | c.446T>C (p.Val149Ala)
| |
19 | g.855643T>G | CA402918090 | ELANE | c.446T>G (p.Val149Gly)
| |
19 | g.855644G>A | CA504881895 | ELANE | c.447G>A (p.Val149=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855644G>C | CA504881894 | ELANE | c.447G>C (p.Val149=)
| |
19 | g.855644G= | CA2317361389 | ELANE | c.447G= (p.Val149=)
| |
19 | g.855644G>T | CA504881892 | ELANE | c.447G>T (p.Val149=)
| gnomAD v4 |
19 | g.855645C>A | CA402918095 | ELANE | c.448C>A (p.Gln150Lys)
| |
19 | g.855645C= | CA2317361390 | ELANE | c.448C= (p.Gln150=)
| |
19 | g.855645C>G | CA402918101 | ELANE | c.448C>G (p.Gln150Glu)
| COSMIC |
19 | g.855645C>T | CA402918098 | ELANE | c.448C>T (p.Gln150Ter)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855646A>C | CA402918103 | ELANE | c.449A>C (p.Gln150Pro)
| gnomAD v4 |
19 | g.855646A>G | CA402918107 | ELANE | c.449A>G (p.Gln150Arg)
| |
19 | g.855646A>T | CA402918105 | ELANE | c.449A>T (p.Gln150Leu)
| |
19 | g.855647G>A | CA9026065 | ELANE | c.450G>A (p.Gln150=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855647G>C | CA402918110 | ELANE | c.450G>C (p.Gln150His)
| gnomAD v4 |
19 | g.855647G= | CA2317361391 | ELANE | c.450G= (p.Gln150=)
| |
19 | g.855647G>T | CA402918109 | ELANE | c.450G>T (p.Gln150His)
| gnomAD v4 |
19 | g.855648_855649dup | CA2587805317 | ELANE | c.451_452dup (p.Leu152AlafsTer24)
| gnomAD v4 |
19 | g.855648T>A | CA402918114 | ELANE | c.451T>A (p.Cys151Ser)
| |
19 | g.855648T>C | CA402918115 | ELANE | c.451T>C (p.Cys151Arg)
| |
19 | g.855648T>G | CA402918117 | ELANE | c.451T>G (p.Cys151Gly)
| |
19 | g.855649G>A | CA303944794 | ELANE | c.452G>A (p.Cys151Tyr)
| ClinVar dbSNP gnomAD v2 |
19 | g.855649G>C | CA402918122 | ELANE | c.452G>C (p.Cys151Ser)
| ClinVar dbSNP |
19 | g.855649G= | CA2317361392 | ELANE | c.452G= (p.Cys151=)
| |
19 | g.855649G>T | CA10583962 | ELANE | c.452G>T (p.Cys151Phe)
| ClinVar dbSNP gnomAD v4 |
19 | g.855650C>A | CA402918126 | ELANE | c.453C>A (p.Cys151Ter)
| gnomAD v4 |
19 | g.855650C= | CA2317361393 | ELANE | c.453C= (p.Cys151=)
| |
19 | g.855650C>G | CA402918128 | ELANE | c.453C>G (p.Cys151Trp)
| |
19 | g.855650C>T | CA504881899 | ELANE | c.453C>T (p.Cys151=)
| ClinVar dbSNP gnomAD v4 |
19 | g.855651del | CA2587805318 | ELANE | c.454del (p.Leu152TrpfsTer23)
| gnomAD v4 |
19 | g.855651C>A | CA402918130 | ELANE | c.454C>A (p.Leu152Met)
| |
19 | g.855651C= | CA2317361394 | ELANE | c.454C= (p.Leu152=)
| |
19 | g.855651C>G | CA402918132 | ELANE | c.454C>G (p.Leu152Val)
| |
19 | g.855651C>T | CA9026066 | ELANE | c.454C>T (p.Leu152=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855652T>A | CA402918140 | ELANE | c.455T>A (p.Leu152Gln)
| |
19 | g.855652T>C | CA402918135 | ELANE | c.455T>C (p.Leu152Pro)
| |
19 | g.855652T>G | CA402918137 | ELANE | c.455T>G (p.Leu152Arg)
| |
19 | g.855653G>A | CA9026067 | ELANE | c.456G>A (p.Leu152=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855653G>C | CA504881902 | ELANE | c.456G>C (p.Leu152=)
| |
19 | g.855653G= | CA2317361395 | ELANE | c.456G= (p.Leu152=)
| |
19 | g.855653G>T | CA504881903 | ELANE | c.456G>T (p.Leu152=)
| gnomAD v4 |
19 | g.855654G>A | CA402918144 | ELANE | c.457G>A (p.Ala153Thr)
| gnomAD v4 |
19 | g.855654G>C | CA402918145 | ELANE | c.457G>C (p.Ala153Pro)
| ClinVar |
19 | g.855654G>T | CA402918146 | ELANE | c.457G>T (p.Ala153Ser)
| gnomAD v4 |
19 | g.855655C>A | CA402918149 | ELANE | c.458C>A (p.Ala153Asp)
| ClinVar |
19 | g.855655C>G | CA402918151 | ELANE | c.458C>G (p.Ala153Gly)
| |
19 | g.855655C>T | CA402918154 | ELANE | c.458C>T (p.Ala153Val)
| gnomAD v4 |
19 | g.855656C>A | CA504881905 | ELANE | c.459C>A (p.Ala153=)
| gnomAD v4 |
19 | g.855656C= | CA2317361396 | ELANE | c.459C= (p.Ala153=)
| |
19 | g.855656C>G | CA504881906 | ELANE | c.459C>G (p.Ala153=)
| |
19 | g.855656C>T | CA504881908 | ELANE | c.459C>T (p.Ala153=)
| dbSNP |
19 | g.855657A>C | CA402918156 | ELANE | c.460A>C (p.Met154Leu)
| |
19 | g.855657A>G | CA402918159 | ELANE | c.460A>G (p.Met154Val)
| |
19 | g.855657A>T | CA402918163 | ELANE | c.460A>T (p.Met154Leu)
| |
19 | g.855658T>A | CA402918173 | ELANE | c.461T>A (p.Met154Lys)
| |
19 | g.855658T>C | CA402918172 | ELANE | c.461T>C (p.Met154Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855658T>G | CA402918170 | ELANE | c.461T>G (p.Met154Arg)
| ClinVar dbSNP |
19 | g.855658T= | CA2317361397 | ELANE | c.461T= (p.Met154=)
| |
19 | g.855659G>A | CA402918175 | ELANE | c.462G>A (p.Met154Ile)
| gnomAD v4 |
19 | g.855659G>C | CA402918176 | ELANE | c.462G>C (p.Met154Ile)
| |
19 | g.855659G= | CA2317361398 | ELANE | c.462G= (p.Met154=)
| |
19 | g.855659G>T | CA402918179 | ELANE | c.462G>T (p.Met154Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855660G>A | CA402918181 | ELANE | c.463G>A (p.Gly155Ser)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855660G>C | CA402918183 | ELANE | c.463G>C (p.Gly155Arg)
| |
19 | g.855660G= | CA2317361399 | ELANE | c.463G= (p.Gly155=)
| |
19 | g.855660G>T | CA402918186 | ELANE | c.463G>T (p.Gly155Cys)
| gnomAD v4 |
19 | g.855661G>A | CA402918190 | ELANE | c.464G>A (p.Gly155Asp)
| gnomAD v4 |
19 | g.855661G>C | CA402918192 | ELANE | c.464G>C (p.Gly155Ala)
| COSMIC |
19 | g.855661G>T | CA402918195 | ELANE | c.464G>T (p.Gly155Val)
| gnomAD v4 |
19 | g.855662C>A | CA504881912 | ELANE | c.465C>A (p.Gly155=)
| |
19 | g.855662C>G | CA504881913 | ELANE | c.465C>G (p.Gly155=)
| |
19 | g.855662C>T | CA504881914 | ELANE | c.465C>T (p.Gly155=)
| gnomAD v4 |
19 | g.855662_855685delinsCTGGGGCCTTCTGGGCAGGAACCG | CA2317361400 | ELANE | c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG (p.Gly155=)
| |
19 | g.855663T>A | CA402918196 | ELANE | c.466T>A (p.Trp156Arg)
| ClinVar |
19 | g.855663T>C | CA402918199 | ELANE | c.466T>C (p.Trp156Arg)
| |
19 | g.855663T>G | CA402918201 | ELANE | c.466T>G (p.Trp156Gly)
| |
19 | g.855663T= | CA2317361401 | ELANE | c.466T= (p.Trp156=)
| |
19 | g.855667_855689del | CA631295190 | ELANE | c.470_492del (p.Gly157AspfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855664G>A | CA402918207 | ELANE | c.467G>A (p.Trp156Ter)
| dbSNP gnomAD v4 |
19 | g.855664G>C | CA402918203 | ELANE | c.467G>C (p.Trp156Ser)
| ClinVar dbSNP |
19 | g.855664G= | CA2317361403 | ELANE | c.467G= (p.Trp156=)
| |
19 | g.855664G>T | CA402918205 | ELANE | c.467G>T (p.Trp156Leu)
| gnomAD v4 COSMIC |
19 | g.855667dup | CA2317361402 | ELANE | c.470dup (p.Leu158ProfsTer?)
| dbSNP |
19 | g.855667del | CA2587805319 | ELANE | c.470del (p.Gly157AlafsTer18)
| gnomAD v4 |
19 | g.855665G>A | CA402918210 | ELANE | c.468G>A (p.Trp156Ter)
| |
19 | g.855665G>C | CA402918211 | ELANE | c.468G>C (p.Trp156Cys)
| |
19 | g.855665G>T | CA402918215 | ELANE | c.468G>T (p.Trp156Cys)
| gnomAD v4 |
19 | g.855666G>A | CA402918218 | ELANE | c.469G>A (p.Gly157Ser)
| ClinVar |
19 | g.855666G>C | CA402918220 | ELANE | c.469G>C (p.Gly157Arg)
| |
19 | g.855666G= | CA2317361404 | ELANE | c.469G= (p.Gly157=)
| |
19 | g.855666G>T | CA303944803 | ELANE | c.469G>T (p.Gly157Cys)
| dbSNP gnomAD v4 |
19 | g.855667G>A | CA402918226 | ELANE | c.470G>A (p.Gly157Asp)
| gnomAD v4 |
19 | g.855667G>C | CA402918228 | ELANE | c.470G>C (p.Gly157Ala)
| |
19 | g.855667G>T | CA402918230 | ELANE | c.470G>T (p.Gly157Val)
| gnomAD v4 |
19 | g.855668C>A | CA504881920 | ELANE | c.471C>A (p.Gly157=)
| |
19 | g.855668C>G | CA504881919 | ELANE | c.471C>G (p.Gly157=)
| |
19 | g.855668C>T | CA504881918 | ELANE | c.471C>T (p.Gly157=)
| gnomAD v4 |
19 | g.855669C>A | CA402918233 | ELANE | c.472C>A (p.Leu158Ile)
| |
19 | g.855669C= | CA2317361405 | ELANE | c.472C= (p.Leu158=)
| |
19 | g.855669C>G | CA9026068 | ELANE | c.472C>G (p.Leu158Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855669C>T | CA402918237 | ELANE | c.472C>T (p.Leu158Phe)
| ClinVar dbSNP |
19 | g.855670T>A | CA402918247 | ELANE | c.473T>A (p.Leu158His)
| |
19 | g.855670T>C | CA402918243 | ELANE | c.473T>C (p.Leu158Pro)
| |
19 | g.855670T>G | CA402918241 | ELANE | c.473T>G (p.Leu158Arg)
| |
19 | g.855671T>A | CA504881921 | ELANE | c.474T>A (p.Leu158=)
| |
19 | g.855671T>C | CA504881922 | ELANE | c.474T>C (p.Leu158=)
| |
19 | g.855671T>G | CA504881923 | ELANE | c.474T>G (p.Leu158=)
| |
19 | g.855672C>A | CA402918252 | ELANE | c.475C>A (p.Leu159Met)
| |
19 | g.855672C= | CA2317361406 | ELANE | c.475C= (p.Leu159=)
| |
19 | g.855672C>G | CA402918249 | ELANE | c.475C>G (p.Leu159Val)
| |
19 | g.855672C>T | CA504881924 | ELANE | c.475C>T (p.Leu159=)
| dbSNP gnomAD v4 |
19 | g.855673T>A | CA402918254 | ELANE | c.476T>A (p.Leu159Gln)
| |
19 | g.855673T>C | CA402918257 | ELANE | c.476T>C (p.Leu159Pro)
| |
19 | g.855673T>G | CA9026069 | ELANE | c.476T>G (p.Leu159Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855673T= | CA2317361407 | ELANE | c.476T= (p.Leu159=)
| |
19 | g.855674G>A | CA504881925 | ELANE | c.477G>A (p.Leu159=)
| |
19 | g.855674G>C | CA9026070 | ELANE | c.477G>C (p.Leu159=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.855674G= | CA2317361408 | ELANE | c.477G= (p.Leu159=)
| |
19 | g.855674G>T | CA504881926 | ELANE | c.477G>T (p.Leu159=)
| gnomAD v4 |
19 | g.855675G>A | CA402918262 | ELANE | c.478G>A (p.Gly160Ser)
| |
19 | g.855675G>C | CA402918265 | ELANE | c.478G>C (p.Gly160Arg)
| |
19 | g.855675G= | CA2317361409 | ELANE | c.478G= (p.Gly160=)
| |
19 | g.855675G>T | CA303944813 | ELANE | c.478G>T (p.Gly160Cys)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855676G>A | CA402918269 | ELANE | c.479G>A (p.Gly160Asp)
| gnomAD v4 |
19 | g.855676G>C | CA402918274 | ELANE | c.479G>C (p.Gly160Ala)
| |
19 | g.855676G= | CA2317361410 | ELANE | c.479G= (p.Gly160=)
| |
19 | g.855676G>T | CA402918277 | ELANE | c.479G>T (p.Gly160Val)
| dbSNP |
19 | g.855677C>A | CA504881927 | ELANE | c.480C>A (p.Gly160=)
| |
19 | g.855677C>G | CA504881928 | ELANE | c.480C>G (p.Gly160=)
| |
19 | g.855677C>T | CA504881929 | ELANE | c.480C>T (p.Gly160=)
| gnomAD v4 |
19 | g.855678A= | CA2317361411 | ELANE | c.481A= (p.Arg161=)
| |
19 | g.855678A>C | CA303944815 | ELANE | c.481A>C (p.Arg161=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855678A>G | CA402918280 | ELANE | c.481A>G (p.Arg161Gly)
| gnomAD v4 |
19 | g.855678A>T | CA402918283 | ELANE | c.481A>T (p.Arg161Trp)
| |
19 | g.855679G>A | CA402918293 | ELANE | c.482G>A (p.Arg161Lys)
| ClinVar dbSNP gnomAD v4 |
19 | g.855679G>C | CA402918290 | ELANE | c.482G>C (p.Arg161Thr)
| |
19 | g.855679G>T | CA402918287 | ELANE | c.482G>T (p.Arg161Met)
| gnomAD v4 |
19 | g.855680G>A | CA504881930 | ELANE | c.483G>A (p.Arg161=)
| |
19 | g.855680G>C | CA402918295 | ELANE | c.483G>C (p.Arg161Ser)
| |
19 | g.855680G>T | CA402918297 | ELANE | c.483G>T (p.Arg161Ser)
| gnomAD v4 |
19 | g.855681A>C | CA402918299 | ELANE | c.484A>C (p.Asn162His)
| |
19 | g.855681A>G | CA402918301 | ELANE | c.484A>G (p.Asn162Asp)
| |
19 | g.855681A>T | CA402918303 | ELANE | c.484A>T (p.Asn162Tyr)
| |
19 | g.855682A>C | CA402918308 | ELANE | c.485A>C (p.Asn162Thr)
| |
19 | g.855682A>G | CA402918310 | ELANE | c.485A>G (p.Asn162Ser)
| gnomAD v4 |
19 | g.855682A>T | CA402918313 | ELANE | c.485A>T (p.Asn162Ile)
| gnomAD v4 |
19 | g.855683C>A | CA402918317 | ELANE | c.486C>A (p.Asn162Lys)
| |
19 | g.855683C= | CA2317361412 | ELANE | c.486C= (p.Asn162=)
| |
19 | g.855683C>G | CA402918322 | ELANE | c.486C>G (p.Asn162Lys)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855683C>T | CA504881931 | ELANE | c.486C>T (p.Asn162=)
| |
19 | g.855684C>A | CA402918324 | ELANE | c.487C>A (p.Arg163Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855684C= | CA2317361413 | ELANE | c.487C= (p.Arg163=)
| |
19 | g.855684C>G | CA402918328 | ELANE | c.487C>G (p.Arg163Gly)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.855684C>T | CA9026071 | ELANE | c.487C>T (p.Arg163Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.855685G>A | CA402918332 | ELANE | c.488G>A (p.Arg163His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855685G>C | CA402918334 | ELANE | c.488G>C (p.Arg163Pro)
| |
19 | g.855685G= | CA2317361414 | ELANE | c.488G= (p.Arg163=)
| |
19 | g.855685G>T | CA402918330 | ELANE | c.488G>T (p.Arg163Leu)
| gnomAD v4 |
19 | g.855686T>A | CA504881933 | ELANE | c.489T>A (p.Arg163=)
| |
19 | g.855686T>C | CA504881934 | ELANE | c.489T>C (p.Arg163=)
| |
19 | g.855686T>G | CA504881935 | ELANE | c.489T>G (p.Arg163=)
| |
19 | g.855687G>A | CA303944823 | ELANE | c.490G>A (p.Gly164Arg)
| dbSNP COSMIC |
19 | g.855687G>C | CA9026072 | ELANE | c.490G>C (p.Gly164Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855687G= | CA2317361415 | ELANE | c.490G= (p.Gly164=)
| |
19 | g.855687G>T | CA402918342 | ELANE | c.490G>T (p.Gly164Trp)
| gnomAD v4 |
19 | g.855688G>A | CA402918344 | ELANE | c.491G>A (p.Gly164Glu)
| gnomAD v4 |
19 | g.855688G>C | CA402918347 | ELANE | c.491G>C (p.Gly164Ala)
| |
19 | g.855688G>T | CA402918350 | ELANE | c.491G>T (p.Gly164Val)
| gnomAD v4 |
19 | g.855689G>A | CA504881939 | ELANE | c.492G>A (p.Gly164=)
| dbSNP COSMIC |
19 | g.855689G>C | CA303944826 | ELANE | c.492G>C (p.Gly164=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855689G= | CA2317361416 | ELANE | c.492G= (p.Gly164=)
| |
19 | g.855689G>T | CA504881940 | ELANE | c.492G>T (p.Gly164=)
| gnomAD v4 |
19 | g.855690A= | CA2317361417 | ELANE | c.493A= (p.Ile165=)
| |
19 | g.855690A>C | CA402918354 | ELANE | c.493A>C (p.Ile165Leu)
| |
19 | g.855690A>G | CA402918357 | ELANE | c.493A>G (p.Ile165Val)
| ClinVar dbSNP |
19 | g.855690A>T | CA402918358 | ELANE | c.493A>T (p.Ile165Phe)
| |
19 | g.855691T>A | CA402918359 | ELANE | c.494T>A (p.Ile165Asn)
| |
19 | g.855691T>C | CA402918360 | ELANE | c.494T>C (p.Ile165Thr)
| |
19 | g.855691T>G | CA402918363 | ELANE | c.494T>G (p.Ile165Ser)
| gnomAD v4 |
19 | g.855692C>A | CA504881941 | ELANE | c.495C>A (p.Ile165=)
| gnomAD v4 |
19 | g.855692C= | CA2317361418 | ELANE | c.495C= (p.Ile165=)
| |
19 | g.855692C>G | CA9026074 | ELANE | c.495C>G (p.Ile165Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855692C>T | CA9026073 | ELANE | c.495C>T (p.Ile165=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.855693G>A | CA9026075 | ELANE | c.496G>A (p.Ala166Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855693G>C | CA402918368 | ELANE | c.496G>C (p.Ala166Pro)
| |
19 | g.855693G= | CA2317361419 | ELANE | c.496G= (p.Ala166=)
| |
19 | g.855693G>T | CA402918369 | ELANE | c.496G>T (p.Ala166Ser)
| gnomAD v4 |
19 | g.855694C>A | CA402918373 | ELANE | c.497C>A (p.Ala166Asp)
| |
19 | g.855694C= | CA2317361420 | ELANE | c.497C= (p.Ala166=)
| |
19 | g.855694C>G | CA402918376 | ELANE | c.497C>G (p.Ala166Gly)
| |
19 | g.855694C>T | CA303944836 | ELANE | c.497C>T (p.Ala166Val)
| dbSNP gnomAD v4 |
19 | g.855695C>A | CA504881942 | ELANE | c.498C>A (p.Ala166=)
| |
19 | g.855695C>G | CA504881943 | ELANE | c.498C>G (p.Ala166=)
| |
19 | g.855695C>T | CA504881944 | ELANE | c.498C>T (p.Ala166=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.855696A>C | CA402918381 | ELANE | c.499A>C (p.Ser167Arg)
| |
19 | g.855696A>G | CA402918382 | ELANE | c.499A>G (p.Ser167Gly)
| |
19 | g.855696A>T | CA402918384 | ELANE | c.499A>T (p.Ser167Cys)
| |
19 | g.855697G>A | CA9026076 | ELANE | c.500G>A (p.Ser167Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855697G>C | CA402918389 | ELANE | c.500G>C (p.Ser167Thr)
| |
19 | g.855697G= | CA2317361421 | ELANE | c.500G= (p.Ser167=)
| |
19 | g.855697G>T | CA402918391 | ELANE | c.500G>T (p.Ser167Ile)
| gnomAD v4 |
19 | g.855698C>A | CA402918396 | ELANE | c.501C>A (p.Ser167Arg)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855698C= | CA2317361422 | ELANE | c.501C= (p.Ser167=)
| |
19 | g.855698C>G | CA402918399 | ELANE | c.501C>G (p.Ser167Arg)
| dbSNP gnomAD v4 |
19 | g.855698C>T | CA9026077 | ELANE | c.501C>T (p.Ser167=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855699G>A | CA9026078 | ELANE | c.502G>A (p.Val168Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.855699G>C | CA402918404 | ELANE | c.502G>C (p.Val168Leu)
| |
19 | g.855699G= | CA2317361423 | ELANE | c.502G= (p.Val168=)
| |
19 | g.855699G>T | CA402918403 | ELANE | c.502G>T (p.Val168Phe)
| gnomAD v4 |
19 | g.855700T>A | CA402918408 | ELANE | c.503T>A (p.Val168Asp)
| |
19 | g.855700T>C | CA402918411 | ELANE | c.503T>C (p.Val168Ala)
| |
19 | g.855700T>G | CA402918413 | ELANE | c.503T>G (p.Val168Gly)
| |
19 | g.855701C>A | CA504881945 | ELANE | c.504C>A (p.Val168=)
| |
19 | g.855701C>G | CA504881946 | ELANE | c.504C>G (p.Val168=)
| |
19 | g.855701C>T | CA504881947 | ELANE | c.504C>T (p.Val168=)
| |
19 | g.855702C>A | CA9026079 | ELANE | c.505C>A (p.Leu169Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855702C= | CA2317361424 | ELANE | c.505C= (p.Leu169=)
| |
19 | g.855702C>G | CA402918416 | ELANE | c.505C>G (p.Leu169Val)
| |
19 | g.855702C>T | CA504881948 | ELANE | c.505C>T (p.Leu169=)
| |
19 | g.855703T>A | CA402918418 | ELANE | c.506T>A (p.Leu169Gln)
| |
19 | g.855703T>C | CA402918421 | ELANE | c.506T>C (p.Leu169Pro)
| |
19 | g.855703T>G | CA402918424 | ELANE | c.506T>G (p.Leu169Arg)
| |
19 | g.855704G>A | CA504881951 | ELANE | c.507G>A (p.Leu169=)
| gnomAD v4 |
19 | g.855704G>C | CA504881950 | ELANE | c.507G>C (p.Leu169=)
| |
19 | g.855704G= | CA2317361425 | ELANE | c.507G= (p.Leu169=)
| |
19 | g.855704G>T | CA504881949 | ELANE | c.507G>T (p.Leu169=)
| dbSNP gnomAD v4 |
19 | g.855705C>A | CA402918427 | ELANE | c.508C>A (p.Gln170Lys)
| |
19 | g.855705C= | CA2317361426 | ELANE | c.508C= (p.Gln170=)
| |
19 | g.855705C>G | CA402918428 | ELANE | c.508C>G (p.Gln170Glu)
| |
19 | g.855705C>T | CA303944847 | ELANE | c.508C>T (p.Gln170Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.855706A= | CA2317361427 | ELANE | c.509A= (p.Gln170=)
| |
19 | g.855706A>C | CA402918432 | ELANE | c.509A>C (p.Gln170Pro)
| |
19 | g.855706A>G | CA402918433 | ELANE | c.509A>G (p.Gln170Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855706A>T | CA402918434 | ELANE | c.509A>T (p.Gln170Leu)
| gnomAD v4 |
19 | g.855707G>A | CA504881952 | ELANE | c.510G>A (p.Gln170=)
| gnomAD v4 |
19 | g.855707G>C | CA402918437 | ELANE | c.510G>C (p.Gln170His)
| |
19 | g.855707G>T | CA402918439 | ELANE | c.510G>T (p.Gln170His)
| gnomAD v4 |