19 | g.855662_855685delinsCTGGGGCCTTCTGGGCAGGAACCG | CA2317361400 | ELANE | c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG (p.Gly155=)
| |
19 | g.855667_855689del | CA631295190 | ELANE | c.470_492del (p.Gly157AspfsTer?)
| dbSNP gnomAD v2 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 |
19 | g.855708G>A | CA9026080 | ELANE | c.511G>A (p.Glu171Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855708G>C | CA402918444 | ELANE | c.511G>C (p.Glu171Gln)
| gnomAD v4 |
19 | g.855708G= | CA2317361428 | ELANE | c.511G= (p.Glu171=)
| |
19 | g.855708G>T | CA402918446 | ELANE | c.511G>T (p.Glu171Ter)
| gnomAD v4 |
19 | g.855709A>C | CA402918449 | ELANE | c.512A>C (p.Glu171Ala)
| |
19 | g.855709A>G | CA402918452 | ELANE | c.512A>G (p.Glu171Gly)
| |
19 | g.855709A>T | CA402918455 | ELANE | c.512A>T (p.Glu171Val)
| |
19 | g.855710G>A | CA504881953 | ELANE | c.513G>A (p.Glu171=)
| |
19 | g.855710G>C | CA402918456 | ELANE | c.513G>C (p.Glu171Asp)
| |
19 | g.855710G= | CA2317361429 | ELANE | c.513G= (p.Glu171=)
| |
19 | g.855710G>T | CA9026081 | ELANE | c.513G>T (p.Glu171Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855711C>A | CA402918463 | ELANE | c.514C>A (p.Leu172Ile)
| gnomAD v4 |
19 | g.855711C>G | CA402918464 | ELANE | c.514C>G (p.Leu172Val)
| |
19 | g.855711C>T | CA402918466 | ELANE | c.514C>T (p.Leu172Phe)
| |
19 | g.855712T>A | CA402918469 | ELANE | c.515T>A (p.Leu172His)
| gnomAD v4 |
19 | g.855712T>C | CA402918474 | ELANE | c.515T>C (p.Leu172Pro)
| |
19 | g.855712T>G | CA402918471 | ELANE | c.515T>G (p.Leu172Arg)
| |
19 | g.855713C>A | CA504881954 | ELANE | c.516C>A (p.Leu172=)
| |
19 | g.855713C>G | CA504881955 | ELANE | c.516C>G (p.Leu172=)
| ClinVar |
19 | g.855713C>T | CA504881956 | ELANE | c.516C>T (p.Leu172=)
| |
19 | g.855714A= | CA2317361430 | ELANE | c.517A= (p.Asn173=)
| |
19 | g.855714A>C | CA402918476 | ELANE | c.517A>C (p.Asn173His)
| dbSNP |
19 | g.855714A>G | CA402918479 | ELANE | c.517A>G (p.Asn173Asp)
| gnomAD v4 |
19 | g.855714A>T | CA402918482 | ELANE | c.517A>T (p.Asn173Tyr)
| |
19 | g.855715A= | CA2317361431 | ELANE | c.518A= (p.Asn173=)
| |
19 | g.855715A>C | CA402918485 | ELANE | c.518A>C (p.Asn173Thr)
| |
19 | g.855715A>G | CA9026082 | ELANE | c.518A>G (p.Asn173Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855715A>T | CA402918490 | ELANE | c.518A>T (p.Asn173Ile)
| |
19 | g.855716C>A | CA402918492 | ELANE | c.519C>A (p.Asn173Lys)
| ClinVar dbSNP gnomAD v4 |
19 | g.855716C= | CA2317361432 | ELANE | c.519C= (p.Asn173=)
| |
19 | g.855716C>G | CA402918496 | ELANE | c.519C>G (p.Asn173Lys)
| |
19 | g.855716C>T | CA9026083 | ELANE | c.519C>T (p.Asn173=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855717G>A | CA402918501 | ELANE | c.520G>A (p.Val174Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.855717G>C | CA402918503 | ELANE | c.520G>C (p.Val174Leu)
| |
19 | g.855717G= | CA2317361433 | ELANE | c.520G= (p.Val174=)
| |
19 | g.855717G>T | CA402918506 | ELANE | c.520G>T (p.Val174Leu)
| gnomAD v4 |
19 | g.855718T>A | CA402918507 | ELANE | c.521T>A (p.Val174Glu)
| |
19 | g.855718T>C | CA402918509 | ELANE | c.521T>C (p.Val174Ala)
| |
19 | g.855718T>G | CA402918508 | ELANE | c.521T>G (p.Val174Gly)
| |
19 | g.855719G>A | CA504881957 | ELANE | c.522G>A (p.Val174=)
| |
19 | g.855719G>C | CA504881958 | ELANE | c.522G>C (p.Val174=)
| |
19 | g.855719G>T | CA504881959 | ELANE | c.522G>T (p.Val174=)
| gnomAD v4 |
19 | g.855720A= | CA2317361434 | ELANE | c.523A= (p.Thr175=)
| |
19 | g.855720A>C | CA402918510 | ELANE | c.523A>C (p.Thr175Pro)
| |
19 | g.855720A>G | CA402918512 | ELANE | c.523A>G (p.Thr175Ala)
| |
19 | g.855720A>T | CA402918520 | ELANE | c.523A>T (p.Thr175Ser)
| dbSNP gnomAD v4 |
19 | g.855721C>A | CA402918525 | ELANE | c.524C>A (p.Thr175Lys)
| |
19 | g.855721C= | CA2317361435 | ELANE | c.524C= (p.Thr175=)
| |
19 | g.855721C>G | CA402918527 | ELANE | c.524C>G (p.Thr175Arg)
| |
19 | g.855721C>T | CA9026084 | ELANE | c.524C>T (p.Thr175Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.855722G>A | CA303944863 | ELANE | c.525G>A (p.Thr175=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855722G>C | CA504881963 | ELANE | c.525G>C (p.Thr175=)
| |
19 | g.855722G= | CA2317361436 | ELANE | c.525G= (p.Thr175=)
| |
19 | g.855722G>T | CA504881964 | ELANE | c.525G>T (p.Thr175=)
| ClinVar gnomAD v4 |
19 | g.855726_855728del | CA2840296520 | ELANE | c.529_531del (p.Val177del)
| |
19 | g.855723G>A | CA402918534 | ELANE | c.526G>A (p.Val176Met)
| |
19 | g.855723G>C | CA402918537 | ELANE | c.526G>C (p.Val176Leu)
| |
19 | g.855723G>T | CA402918539 | ELANE | c.526G>T (p.Val176Leu)
| |
19 | g.855724T>A | CA402918544 | ELANE | c.527T>A (p.Val176Glu)
| |
19 | g.855724T>C | CA402918546 | ELANE | c.527T>C (p.Val176Ala)
| |
19 | g.855724T>G | CA402918541 | ELANE | c.527T>G (p.Val176Gly)
| |
19 | g.855725G>A | CA504881966 | ELANE | c.528G>A (p.Val176=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.855725G>C | CA504881968 | ELANE | c.528G>C (p.Val176=)
| |
19 | g.855725G= | CA2317361437 | ELANE | c.528G= (p.Val176=)
| |
19 | g.855725G>T | CA504881967 | ELANE | c.528G>T (p.Val176=)
| |
19 | g.855726G>A | CA402918553 | ELANE | c.529G>A (p.Val177Met)
| dbSNP gnomAD v4 |
19 | g.855726G>C | CA402918549 | ELANE | c.529G>C (p.Val177Leu)
| |
19 | g.855726G= | CA2317361438 | ELANE | c.529G= (p.Val177=)
| |
19 | g.855726G>T | CA402918551 | ELANE | c.529G>T (p.Val177Leu)
| gnomAD v4 |
19 | g.855727T>A | CA402918555 | ELANE | c.530T>A (p.Val177Glu)
| |
19 | g.855727T>C | CA402918558 | ELANE | c.530T>C (p.Val177Ala)
| |
19 | g.855727T>G | CA402918560 | ELANE | c.530T>G (p.Val177Gly)
| |
19 | g.855728G>A | CA504881972 | ELANE | c.531G>A (p.Val177=)
| ClinVar gnomAD v4 |
19 | g.855728G>C | CA504881973 | ELANE | c.531G>C (p.Val177=)
| |
19 | g.855728G>T | CA504881974 | ELANE | c.531G>T (p.Val177=)
| gnomAD v4 |
19 | g.855729A>C | CA402918569 | ELANE | c.532A>C (p.Thr178Pro)
| |
19 | g.855729A>G | CA402918568 | ELANE | c.532A>G (p.Thr178Ala)
| |
19 | g.855729A>T | CA402918563 | ELANE | c.532A>T (p.Thr178Ser)
| |
19 | g.855730C>A | CA9026085 | ELANE | c.533C>A (p.Thr178Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855730C= | CA2317361439 | ELANE | c.533C= (p.Thr178=)
| |
19 | g.855730C>G | CA402918572 | ELANE | c.533C>G (p.Thr178Arg)
| |
19 | g.855730C>T | CA9026086 | ELANE | c.533C>T (p.Thr178Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.855731G>A | CA504881975 | ELANE | c.534G>A (p.Thr178=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855731G>C | CA504881976 | ELANE | c.534G>C (p.Thr178=)
| |
19 | g.855731G= | CA2317361440 | ELANE | c.534G= (p.Thr178=)
| |
19 | g.855731G>T | CA303944883 | ELANE | c.534G>T (p.Thr178=)
| ClinVar dbSNP gnomAD v4 |
19 | g.855732T>A | CA402918574 | ELANE | c.535T>A (p.Ser179Thr)
| gnomAD v4 |
19 | g.855732T>C | CA402918577 | ELANE | c.535T>C (p.Ser179Pro)
| |
19 | g.855732T>G | CA402918580 | ELANE | c.535T>G (p.Ser179Ala)
| |
19 | g.855733C>A | CA402918588 | ELANE | c.536C>A (p.Ser179Tyr)
| dbSNP gnomAD v2 |
19 | g.855733C= | CA2317361441 | ELANE | c.536C= (p.Ser179=)
| |
19 | g.855733C>G | CA402918593 | ELANE | c.536C>G (p.Ser179Cys)
| |
19 | g.855733C>T | CA402918590 | ELANE | c.536C>T (p.Ser179Phe)
| gnomAD v4 |
19 | g.855735del | CA2580096963 | ELANE | c.538del (p.Leu180SerfsTer11)
| ClinVar |
19 | g.855734_855760del | CA2582342341 | ELANE | c.537_563del (p.Leu180_Thr188del)
| ClinVar |
19 | g.855734C>A | CA504881980 | ELANE | c.537C>A (p.Ser179=)
| |
19 | g.855734C= | CA2317361442 | ELANE | c.537C= (p.Ser179=)
| |
19 | g.855734C>G | CA504881981 | ELANE | c.537C>G (p.Ser179=)
| |
19 | g.855734C>T | CA9026087 | ELANE | c.537C>T (p.Ser179=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855735C>A | CA402918595 | ELANE | c.538C>A (p.Leu180Ile)
| |
19 | g.855735C= | CA2317361443 | ELANE | c.538C= (p.Leu180=)
| |
19 | g.855735C>G | CA303944898 | ELANE | c.538C>G (p.Leu180Val)
| dbSNP COSMIC |
19 | g.855735C>T | CA402918600 | ELANE | c.538C>T (p.Leu180Phe)
| gnomAD v4 |
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 |