19 | g.856074T>A | CA402919259 | ELANE | c.714T>A (p.Phe238Leu)
| |
19 | g.856074T>C | CA504686934 | ELANE | c.714T>C (p.Phe238=)
| gnomAD v4 |
19 | g.856074T>G | CA402919260 | ELANE | c.714T>G (p.Phe238Leu)
| |
19 | g.856075G>A | CA402919263 | ELANE | c.715G>A (p.Val239Ile)
| gnomAD v4 |
19 | g.856075G>C | CA402919264 | ELANE | c.715G>C (p.Val239Leu)
| gnomAD v4 |
19 | g.856075G>T | CA402919265 | ELANE | c.715G>T (p.Val239Leu)
| gnomAD v4 |
19 | g.856076T>A | CA402919267 | ELANE | c.716T>A (p.Val239Glu)
| |
19 | g.856076T>C | CA402919268 | ELANE | c.716T>C (p.Val239Ala)
| |
19 | g.856076T>G | CA402919270 | ELANE | c.716T>G (p.Val239Gly)
| |
19 | g.856077A>C | CA504686951 | ELANE | c.717A>C (p.Val239=)
| |
19 | g.856077A>G | CA504686953 | ELANE | c.717A>G (p.Val239=)
| |
19 | g.856077A>T | CA504686955 | ELANE | c.717A>T (p.Val239=)
| |
19 | g.856078A>C | CA402919271 | ELANE | c.718A>C (p.Asn240His)
| |
19 | g.856078A>G | CA402919272 | ELANE | c.718A>G (p.Asn240Asp)
| |
19 | g.856078A>T | CA402919274 | ELANE | c.718A>T (p.Asn240Tyr)
| |
19 | g.856078_856080del | CA2695227828 | ELANE | c.718_720del (p.Asn240del)
| |
19 | g.856079A>C | CA402919277 | ELANE | c.719A>C (p.Asn240Thr)
| ClinVar |
19 | g.856079A>G | CA402919279 | ELANE | c.719A>G (p.Asn240Ser)
| gnomAD v4 |
19 | g.856079A>T | CA402919276 | ELANE | c.719A>T (p.Asn240Ile)
| |
19 | g.856080C>A | CA402919281 | ELANE | c.720C>A (p.Asn240Lys)
| |
19 | g.856080C>G | CA402919283 | ELANE | c.720C>G (p.Asn240Lys)
| |
19 | g.856080C>T | CA504686968 | ELANE | c.720C>T (p.Asn240=)
| gnomAD v4 |
19 | g.856081T>A | CA402919284 | ELANE | c.721T>A (p.Trp241Arg)
| |
19 | g.856081T>C | CA402919285 | ELANE | c.721T>C (p.Trp241Arg)
| gnomAD v4 |
19 | g.856081T>G | CA402919287 | ELANE | c.721T>G (p.Trp241Gly)
| gnomAD v4 |
19 | g.856082G>A | CA402919291 | ELANE | c.722G>A (p.Trp241Ter)
| ClinVar dbSNP |
19 | g.856082G>C | CA402919289 | ELANE | c.722G>C (p.Trp241Ser)
| |
19 | g.856082G= | CA2317361659 | ELANE | c.722G= (p.Trp241=)
| |
19 | g.856082G>T | CA402919290 | ELANE | c.722G>T (p.Trp241Leu)
| |
19 | g.856083G>A | CA402919292 | ELANE | c.723G>A (p.Trp241Ter)
| ClinVar dbSNP gnomAD v4 |
19 | g.856083G>C | CA402919294 | ELANE | c.723G>C (p.Trp241Cys)
| |
19 | g.856083G>T | CA402919296 | ELANE | c.723G>T (p.Trp241Cys)
| gnomAD v4 |
19 | g.856084A= | CA2317361660 | ELANE | c.724A= (p.Ile242=)
| |
19 | g.856084A>C | CA402919298 | ELANE | c.724A>C (p.Ile242Leu)
| |
19 | g.856084A>G | CA9026149 | ELANE | c.724A>G (p.Ile242Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.856084A>T | CA402919300 | ELANE | c.724A>T (p.Ile242Phe)
| ClinVar |
19 | g.856085T>A | CA402919304 | ELANE | c.725T>A (p.Ile242Asn)
| |
19 | g.856085T>C | CA402919306 | ELANE | c.725T>C (p.Ile242Thr)
| |
19 | g.856085T>G | CA402919303 | ELANE | c.725T>G (p.Ile242Ser)
| |
19 | g.856086C>A | CA504686997 | ELANE | c.726C>A (p.Ile242=)
| |
19 | g.856086C= | CA2317361661 | ELANE | c.726C= (p.Ile242=)
| |
19 | g.856086C>G | CA402919308 | ELANE | c.726C>G (p.Ile242Met)
| gnomAD v4 |
19 | g.856086C>T | CA504687002 | ELANE | c.726C>T (p.Ile242=)
| dbSNP gnomAD v4 COSMIC |
19 | g.856087G>A | CA402919309 | ELANE | c.727G>A (p.Asp243Asn)
| dbSNP gnomAD v4 |
19 | g.856087G>C | CA402919311 | ELANE | c.727G>C (p.Asp243His)
| |
19 | g.856087G= | CA2317361662 | ELANE | c.727G= (p.Asp243=)
| |
19 | g.856087G>T | CA9026150 | ELANE | c.727G>T (p.Asp243Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.856088A= | CA2317361663 | ELANE | c.728A= (p.Asp243=)
| |
19 | g.856088A>C | CA9026151 | ELANE | c.728A>C (p.Asp243Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856088A>G | CA402919314 | ELANE | c.728A>G (p.Asp243Gly)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.856088A>T | CA402919317 | ELANE | c.728A>T (p.Asp243Val)
| |
19 | g.856089C>A | CA402919320 | ELANE | c.729C>A (p.Asp243Glu)
| |
19 | g.856089C>G | CA402919319 | ELANE | c.729C>G (p.Asp243Glu)
| |
19 | g.856089C>T | CA504687023 | ELANE | c.729C>T (p.Asp243=)
| |
19 | g.856091_856092del | CA2580613009 | ELANE | c.731_732del (p.Ser244TyrfsTer?)
| ClinVar |
19 | g.856090T>A | CA402919321 | ELANE | c.730T>A (p.Ser244Thr)
| |
19 | g.856090T>C | CA402919323 | ELANE | c.730T>C (p.Ser244Pro)
| gnomAD v4 |
19 | g.856090T>G | CA402919325 | ELANE | c.730T>G (p.Ser244Ala)
| |
19 | g.856091C>A | CA402919327 | ELANE | c.731C>A (p.Ser244Tyr)
| |
19 | g.856091C>G | CA402919329 | ELANE | c.731C>G (p.Ser244Cys)
| |
19 | g.856091C>T | CA402919330 | ELANE | c.731C>T (p.Ser244Phe)
| |
19 | g.856092T>A | CA504687043 | ELANE | c.732T>A (p.Ser244=)
| |
19 | g.856092T>C | CA504687040 | ELANE | c.732T>C (p.Ser244=)
| |
19 | g.856092T>G | CA504687039 | ELANE | c.732T>G (p.Ser244=)
| |
19 | g.856093_856097dup | CA2740091836 | ELANE | c.733_737dup (p.Gln247SerfsTer?)
| ClinVar |
19 | g.856093A= | CA2317361664 | ELANE | c.733A= (p.Ile245=)
| |
19 | g.856093A>C | CA402919332 | ELANE | c.733A>C (p.Ile245Leu)
| |
19 | g.856093A>G | CA9026152 | ELANE | c.733A>G (p.Ile245Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.856093A>T | CA402919333 | ELANE | c.733A>T (p.Ile245Phe)
| |
19 | g.856094T>A | CA402919335 | ELANE | c.734T>A (p.Ile245Asn)
| |
19 | g.856094T>C | CA402919337 | ELANE | c.734T>C (p.Ile245Thr)
| gnomAD v4 |
19 | g.856094T>G | CA402919339 | ELANE | c.734T>G (p.Ile245Ser)
| |
19 | g.856095C>A | CA504687062 | ELANE | c.735C>A (p.Ile245=)
| |
19 | g.856095C>G | CA402919340 | ELANE | c.735C>G (p.Ile245Met)
| |
19 | g.856095C>T | CA504687066 | ELANE | c.735C>T (p.Ile245=)
| ClinVar COSMIC |
19 | g.856096A>C | CA402919342 | ELANE | c.736A>C (p.Ile246Leu)
| |
19 | g.856096A>G | CA402919344 | ELANE | c.736A>G (p.Ile246Val)
| |
19 | g.856096A>T | CA402919346 | ELANE | c.736A>T (p.Ile246Phe)
| |
19 | g.856097T>A | CA402919348 | ELANE | c.737T>A (p.Ile246Asn)
| |
19 | g.856097T>C | CA402919350 | ELANE | c.737T>C (p.Ile246Thr)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.856097T>G | CA402919351 | ELANE | c.737T>G (p.Ile246Ser)
| |
19 | g.856097T= | CA2317361665 | ELANE | c.737T= (p.Ile246=)
| |
19 | g.856098C>A | CA504687082 | ELANE | c.738C>A (p.Ile246=)
| |
19 | g.856098C>G | CA402919352 | ELANE | c.738C>G (p.Ile246Met)
| gnomAD v4 |
19 | g.856098C>T | CA504687086 | ELANE | c.738C>T (p.Ile246=)
| |
19 | g.856099C>A | CA402919357 | ELANE | c.739C>A (p.Gln247Lys)
| dbSNP gnomAD v4 |
19 | g.856099C= | CA2317361666 | ELANE | c.739C= (p.Gln247=)
| |
19 | g.856099C>G | CA402919355 | ELANE | c.739C>G (p.Gln247Glu)
| |
19 | g.856099C>T | CA402919353 | ELANE | c.739C>T (p.Gln247Ter)
| gnomAD v4 |
19 | g.856100A= | CA2317361667 | ELANE | c.740A= (p.Gln247=)
| |
19 | g.856100A>C | CA402919359 | ELANE | c.740A>C (p.Gln247Pro)
| |
19 | g.856100A>G | CA402919360 | ELANE | c.740A>G (p.Gln247Arg)
| |
19 | g.856100A>T | CA9026153 | ELANE | c.740A>T (p.Gln247Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856101A= | CA2317361668 | ELANE | c.741A= (p.Gln247=)
| |
19 | g.856101A>C | CA402919362 | ELANE | c.741A>C (p.Gln247His)
| |
19 | g.856101A>G | CA303945410 | ELANE | c.741A>G (p.Gln247=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856101A>T | CA402919364 | ELANE | c.741A>T (p.Gln247His)
| |
19 | g.856102C>A | CA402919368 | ELANE | c.742C>A (p.Arg248Ser)
| |
19 | g.856102C= | CA2317361669 | ELANE | c.742C= (p.Arg248=)
| |
19 | g.856102C>G | CA402919366 | ELANE | c.742C>G (p.Arg248Gly)
| |
19 | g.856102C>T | CA10587350 | ELANE | c.742C>T (p.Arg248Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.856103G>A | CA402919369 | ELANE | c.743G>A (p.Arg248His)
| gnomAD v4 |
19 | g.856103G>C | CA402919370 | ELANE | c.743G>C (p.Arg248Pro)
| |
19 | g.856103G= | CA2317361670 | ELANE | c.743G= (p.Arg248=)
| |
19 | g.856103G>T | CA402919371 | ELANE | c.743G>T (p.Arg248Leu)
| dbSNP |
19 | g.856104C>A | CA504687114 | ELANE | c.744C>A (p.Arg248=)
| |
19 | g.856104C= | CA2317361671 | ELANE | c.744C= (p.Arg248=)
| |
19 | g.856104C>G | CA504687119 | ELANE | c.744C>G (p.Arg248=)
| ClinVar dbSNP |
19 | g.856104C>T | CA504687116 | ELANE | c.744C>T (p.Arg248=)
| ClinVar dbSNP |
19 | g.856105T>A | CA402919374 | ELANE | c.745T>A (p.Ser249Thr)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.856105T>C | CA402919376 | ELANE | c.745T>C (p.Ser249Pro)
| |
19 | g.856105T>G | CA402919377 | ELANE | c.745T>G (p.Ser249Ala)
| |
19 | g.856105T= | CA2317361672 | ELANE | c.745T= (p.Ser249=)
| |
19 | g.856106C>A | CA402919378 | ELANE | c.746C>A (p.Ser249Tyr)
| |
19 | g.856106C= | CA2317361673 | ELANE | c.746C= (p.Ser249=)
| |
19 | g.856106C>G | CA402919381 | ELANE | c.746C>G (p.Ser249Cys)
| ClinVar dbSNP gnomAD v4 |
19 | g.856106C>T | CA9026154 | ELANE | c.746C>T (p.Ser249Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856107C>A | CA504687138 | ELANE | c.747C>A (p.Ser249=)
| |
19 | g.856107C= | CA2317361674 | ELANE | c.747C= (p.Ser249=)
| |
19 | g.856107C>G | CA504687141 | ELANE | c.747C>G (p.Ser249=)
| gnomAD v4 |
19 | g.856107C>T | CA9026155 | ELANE | c.747C>T (p.Ser249=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.856108G>A | CA402919384 | ELANE | c.748G>A (p.Glu250Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.856108G>C | CA402919386 | ELANE | c.748G>C (p.Glu250Gln)
| |
19 | g.856108G= | CA2317361675 | ELANE | c.748G= (p.Glu250=)
| |
19 | g.856108G>T | CA402919387 | ELANE | c.748G>T (p.Glu250Ter)
| |
19 | g.856109A>C | CA402919390 | ELANE | c.749A>C (p.Glu250Ala)
| |
19 | g.856109A>G | CA402919392 | ELANE | c.749A>G (p.Glu250Gly)
| |
19 | g.856109A>T | CA402919393 | ELANE | c.749A>T (p.Glu250Val)
| |
19 | g.856110G>A | CA504687159 | ELANE | c.750G>A (p.Glu250=)
| |
19 | g.856110G>C | CA402919394 | ELANE | c.750G>C (p.Glu250Asp)
| |
19 | g.856110G>T | CA402919396 | ELANE | c.750G>T (p.Glu250Asp)
| |
19 | g.856111G>A | CA402919398 | ELANE | c.751G>A (p.Asp251Asn)
| |
19 | g.856111G>C | CA402919400 | ELANE | c.751G>C (p.Asp251His)
| |
19 | g.856111G>T | CA402919401 | ELANE | c.751G>T (p.Asp251Tyr)
| ClinVar gnomAD v4 |
19 | g.856112A= | CA2317361676 | ELANE | c.752A= (p.Asp251=)
| |
19 | g.856112A>C | CA402919406 | ELANE | c.752A>C (p.Asp251Ala)
| ClinVar dbSNP |
19 | g.856112A>G | CA402919407 | ELANE | c.752A>G (p.Asp251Gly)
| |
19 | g.856112A>T | CA402919403 | ELANE | c.752A>T (p.Asp251Val)
| |
19 | g.856113C>A | CA402919411 | ELANE | c.753C>A (p.Asp251Glu)
| |
19 | g.856113C= | CA2317361677 | ELANE | c.753C= (p.Asp251=)
| |
19 | g.856113C>G | CA402919409 | ELANE | c.753C>G (p.Asp251Glu)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.856113C>T | CA504687183 | ELANE | c.753C>T (p.Asp251=)
| gnomAD v4 |
19 | g.856114A>C | CA402919414 | ELANE | c.754A>C (p.Asn252His)
| |
19 | g.856114A>G | CA402919413 | ELANE | c.754A>G (p.Asn252Asp)
| |
19 | g.856114A>T | CA402919416 | ELANE | c.754A>T (p.Asn252Tyr)
| |
19 | g.856114_856126delinsAACCCCTGTCCCC | CA2317361678 | ELANE | c.754_766delinsAACCCCTGTCCCC (p.Asn252=)
| |
19 | g.856115A>C | CA402919418 | ELANE | c.755A>C (p.Asn252Thr)
| |
19 | g.856115A>G | CA402919420 | ELANE | c.755A>G (p.Asn252Ser)
| |
19 | g.856115A>T | CA402919421 | ELANE | c.755A>T (p.Asn252Ile)
| |
19 | g.856120_856131del | CA884315985 | ELANE | c.760_771del (p.Cys254_Pro257del)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.856116C>A | CA402919423 | ELANE | c.756C>A (p.Asn252Lys)
| |
19 | g.856116C= | CA2317361679 | ELANE | c.756C= (p.Asn252=)
| |
19 | g.856116C>G | CA402919425 | ELANE | c.756C>G (p.Asn252Lys)
| |
19 | g.856116C>T | CA504687205 | ELANE | c.756C>T (p.Asn252=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.856117C>A | CA402919426 | ELANE | c.757C>A (p.Pro253Thr)
| |
19 | g.856117C= | CA2317361680 | ELANE | c.757C= (p.Pro253=)
| |
19 | g.856117C>G | CA402919428 | ELANE | c.757C>G (p.Pro253Ala)
| gnomAD v4 |
19 | g.856117C>T | CA402919430 | ELANE | c.757C>T (p.Pro253Ser)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.856118C>A | CA402919432 | ELANE | c.758C>A (p.Pro253His)
| |
19 | g.856118C>G | CA402919433 | ELANE | c.758C>G (p.Pro253Arg)
| |
19 | g.856118C>T | CA402919435 | ELANE | c.758C>T (p.Pro253Leu)
| |
19 | g.856119C>A | CA504687223 | ELANE | c.759C>A (p.Pro253=)
| gnomAD v4 |
19 | g.856119C= | CA2317361681 | ELANE | c.759C= (p.Pro253=)
| |
19 | g.856119C>G | CA504687225 | ELANE | c.759C>G (p.Pro253=)
| |
19 | g.856119C>T | CA504687228 | ELANE | c.759C>T (p.Pro253=)
| dbSNP gnomAD v4 |
19 | g.856120T>A | CA402919440 | ELANE | c.760T>A (p.Cys254Ser)
| |
19 | g.856120T>C | CA402919436 | ELANE | c.760T>C (p.Cys254Arg)
| ClinVar dbSNP |
19 | g.856120T>G | CA402919438 | ELANE | c.760T>G (p.Cys254Gly)
| |
19 | g.856121G>A | CA402919442 | ELANE | c.761G>A (p.Cys254Tyr)
| ClinVar |
19 | g.856121G>C | CA402919443 | ELANE | c.761G>C (p.Cys254Ser)
| |
19 | g.856121G>T | CA402919445 | ELANE | c.761G>T (p.Cys254Phe)
| |
19 | g.856122T>A | CA402919447 | ELANE | c.762T>A (p.Cys254Ter)
| |
19 | g.856122T>C | CA504687242 | ELANE | c.762T>C (p.Cys254=)
| |
19 | g.856122T>G | CA402919448 | ELANE | c.762T>G (p.Cys254Trp)
| |
19 | g.856123C>A | CA402919449 | ELANE | c.763C>A (p.Pro255Thr)
| |
19 | g.856123C>G | CA402919450 | ELANE | c.763C>G (p.Pro255Ala)
| |
19 | g.856123C>T | CA402919452 | ELANE | c.763C>T (p.Pro255Ser)
| |
19 | g.856124C>A | CA402919455 | ELANE | c.764C>A (p.Pro255His)
| |
19 | g.856124C>G | CA402919456 | ELANE | c.764C>G (p.Pro255Arg)
| |
19 | g.856124C>T | CA402919457 | ELANE | c.764C>T (p.Pro255Leu)
| gnomAD v4 |
19 | g.856125C>A | CA504687265 | ELANE | c.765C>A (p.Pro255=)
| |
19 | g.856125C>G | CA504687267 | ELANE | c.765C>G (p.Pro255=)
| |
19 | g.856125C>T | CA504687269 | ELANE | c.765C>T (p.Pro255=)
| |
19 | g.856126C>A | CA402919460 | ELANE | c.766C>A (p.His256Asn)
| |
19 | g.856126C>G | CA402919462 | ELANE | c.766C>G (p.His256Asp)
| |
19 | g.856126C>T | CA402919458 | ELANE | c.766C>T (p.His256Tyr)
| |
19 | g.856127A>C | CA402919464 | ELANE | c.767A>C (p.His256Pro)
| |
19 | g.856127A>G | CA402919465 | ELANE | c.767A>G (p.His256Arg)
| |
19 | g.856127A>T | CA402919467 | ELANE | c.767A>T (p.His256Leu)
| |
19 | g.856127_856128delinsAC | CA2317361682 | ELANE | c.767_768delinsAC (p.His256=)
| |
19 | g.856128C>A | CA402919469 | ELANE | c.768C>A (p.His256Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856128C= | CA2317361683 | ELANE | c.768C= (p.His256=)
| |
19 | g.856128C>G | CA402919471 | ELANE | c.768C>G (p.His256Gln)
| gnomAD v4 |
19 | g.856128C>T | CA9026156 | ELANE | c.768C>T (p.His256=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856132del | CA631295812 | ELANE | c.772del (p.Arg258GlyfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.856129C>A | CA402919474 | ELANE | c.769C>A (p.Pro257Thr)
| gnomAD v4 |
19 | g.856129C= | CA2317361684 | ELANE | c.769C= (p.Pro257=)
| |
19 | g.856129C>G | CA402919472 | ELANE | c.769C>G (p.Pro257Ala)
| |
19 | g.856129C>T | CA9026157 | ELANE | c.769C>T (p.Pro257Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.856130C>A | CA402919476 | ELANE | c.770C>A (p.Pro257His)
| |
19 | g.856130C= | CA2317361685 | ELANE | c.770C= (p.Pro257=)
| |
19 | g.856130C>G | CA402919478 | ELANE | c.770C>G (p.Pro257Arg)
| |
19 | g.856130C>T | CA9026158 | ELANE | c.770C>T (p.Pro257Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856131C>A | CA504687303 | ELANE | c.771C>A (p.Pro257=)
| |
19 | g.856131C>G | CA504687305 | ELANE | c.771C>G (p.Pro257=)
| |
19 | g.856131C>T | CA504687307 | ELANE | c.771C>T (p.Pro257=)
| |
19 | g.856132C>A | CA504687310 | ELANE | c.772C>A (p.Arg258=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.856132C= | CA2317361686 | ELANE | c.772C= (p.Arg258=)
| |
19 | g.856132C>G | CA402919480 | ELANE | c.772C>G (p.Arg258Gly)
| |
19 | g.856132C>T | CA9026159 | ELANE | c.772C>T (p.Arg258Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.856133G>A | CA9026160 | ELANE | c.773G>A (p.Arg258Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856133G>C | CA402919484 | ELANE | c.773G>C (p.Arg258Pro)
| gnomAD v4 |
19 | g.856133G= | CA2317361687 | ELANE | c.773G= (p.Arg258=)
| |
19 | g.856133G>T | CA402919482 | ELANE | c.773G>T (p.Arg258Leu)
| |
19 | g.856134G>A | CA504687329 | ELANE | c.774G>A (p.Arg258=)
| |
19 | g.856134G>C | CA504687326 | ELANE | c.774G>C (p.Arg258=)
| |
19 | g.856134G>T | CA504687324 | ELANE | c.774G>T (p.Arg258=)
| |
19 | g.856135G>A | CA402919486 | ELANE | c.775G>A (p.Asp259Asn)
| gnomAD v4 |
19 | g.856135G>C | CA402919487 | ELANE | c.775G>C (p.Asp259His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.856135G= | CA2317361688 | ELANE | c.775G= (p.Asp259=)
| |
19 | g.856135G>T | CA402919489 | ELANE | c.775G>T (p.Asp259Tyr)
| |
19 | g.856136A= | CA2317361689 | ELANE | c.776A= (p.Asp259=)
| |
19 | g.856136A>C | CA402919490 | ELANE | c.776A>C (p.Asp259Ala)
| |
19 | g.856136A>G | CA9026161 | ELANE | c.776A>G (p.Asp259Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.856136A>T | CA402919492 | ELANE | c.776A>T (p.Asp259Val)
| |
19 | g.856137C>A | CA402919494 | ELANE | c.777C>A (p.Asp259Glu)
| |
19 | g.856137C>G | CA402919496 | ELANE | c.777C>G (p.Asp259Glu)
| gnomAD v4 |
19 | g.856137C>T | CA504687347 | ELANE | c.777C>T (p.Asp259=)
| gnomAD v4 |
19 | g.856138C>A | CA9026162 | ELANE | c.778C>A (p.Pro260Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856138C= | CA2317361690 | ELANE | c.778C= (p.Pro260=)
| |
19 | g.856138C>G | CA402919498 | ELANE | c.778C>G (p.Pro260Ala)
| |
19 | g.856138C>T | CA402919500 | ELANE | c.778C>T (p.Pro260Ser)
| gnomAD v4 COSMIC |
19 | g.856139C>A | CA402919504 | ELANE | c.779C>A (p.Pro260Gln)
| |
19 | g.856139C= | CA2317361691 | ELANE | c.779C= (p.Pro260=)
| |
19 | g.856139C>G | CA303945445 | ELANE | c.779C>G (p.Pro260Arg)
| dbSNP |
19 | g.856139C>T | CA9026163 | ELANE | c.779C>T (p.Pro260Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.856140G>A | CA9026164 | ELANE | c.780G>A (p.Pro260=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856140G>C | CA504687369 | ELANE | c.780G>C (p.Pro260=)
| |
19 | g.856140G= | CA2317361692 | ELANE | c.780G= (p.Pro260=)
| |
19 | g.856140G>T | CA504687366 | ELANE | c.780G>T (p.Pro260=)
| |
19 | g.856141G>A | CA402919510 | ELANE | c.781G>A (p.Asp261Asn)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.856141G>C | CA9026165 | ELANE | c.781G>C (p.Asp261His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.856141G= | CA2317361693 | ELANE | c.781G= (p.Asp261=)
| |
19 | g.856141G>T | CA402919508 | ELANE | c.781G>T (p.Asp261Tyr)
| |
19 | g.856142A>C | CA402919511 | ELANE | c.782A>C (p.Asp261Ala)
| |
19 | g.856142A>G | CA402919513 | ELANE | c.782A>G (p.Asp261Gly)
| ClinVar gnomAD v4 |
19 | g.856142A>T | CA402919515 | ELANE | c.782A>T (p.Asp261Val)
| |
19 | g.856143C>A | CA402919517 | ELANE | c.783C>A (p.Asp261Glu)
| |
19 | g.856143C= | CA2317361694 | ELANE | c.783C= (p.Asp261=)
| |
19 | g.856143C>G | CA402919518 | ELANE | c.783C>G (p.Asp261Glu)
| dbSNP |
19 | g.856143C>T | CA504687383 | ELANE | c.783C>T (p.Asp261=)
| gnomAD v4 |
19 | g.856144C>A | CA402919520 | ELANE | c.784C>A (p.Pro262Thr)
| dbSNP |
19 | g.856144C= | CA2317361695 | ELANE | c.784C= (p.Pro262=)
| |
19 | g.856144C>G | CA402919522 | ELANE | c.784C>G (p.Pro262Ala)
| |
19 | g.856144C>T | CA9026166 | ELANE | c.784C>T (p.Pro262Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856145C>A | CA402919524 | ELANE | c.785C>A (p.Pro262Gln)
| gnomAD v4 |
19 | g.856145C= | CA2317361696 | ELANE | c.785C= (p.Pro262=)
| |
19 | g.856145C>G | CA402919525 | ELANE | c.785C>G (p.Pro262Arg)
| |
19 | g.856145C>T | CA290729 | ELANE | c.785C>T (p.Pro262Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856146G>A | CA9026167 | ELANE | c.786G>A (p.Pro262=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.856146G>C | CA504687404 | ELANE | c.786G>C (p.Pro262=)
| ClinVar dbSNP |
19 | g.856146G= | CA2317361697 | ELANE | c.786G= (p.Pro262=)
| |
19 | g.856146G>T | CA504687406 | ELANE | c.786G>T (p.Pro262=)
| dbSNP gnomAD v2 |
19 | g.856147G>A | CA402919530 | ELANE | c.787G>A (p.Ala263Thr)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.856147G>C | CA402919531 | ELANE | c.787G>C (p.Ala263Pro)
| |
19 | g.856147G= | CA2317361698 | ELANE | c.787G= (p.Ala263=)
| |
19 | g.856147G>T | CA402919532 | ELANE | c.787G>T (p.Ala263Ser)
| dbSNP |
19 | g.856148C>A | CA303945470 | ELANE | c.788C>A (p.Ala263Asp)
| dbSNP gnomAD v4 |
19 | g.856148C= | CA2317361699 | ELANE | c.788C= (p.Ala263=)
| |
19 | g.856148C>G | CA402919535 | ELANE | c.788C>G (p.Ala263Gly)
| |
19 | g.856148C>T | CA402919536 | ELANE | c.788C>T (p.Ala263Val)
| |
19 | g.856149C>A | CA504687421 | ELANE | c.789C>A (p.Ala263=)
| |
19 | g.856149C= | CA2317361700 | ELANE | c.789C= (p.Ala263=)
| |
19 | g.856149C>G | CA504687424 | ELANE | c.789C>G (p.Ala263=)
| |
19 | g.856149C>T | CA303945471 | ELANE | c.789C>T (p.Ala263=)
| ClinVar dbSNP gnomAD v4 |
19 | g.856150A= | CA2317361701 | ELANE | c.790A= (p.Ser264=)
| |
19 | g.856150A>C | CA402919540 | ELANE | c.790A>C (p.Ser264Arg)
| |
19 | g.856150A>G | CA402919541 | ELANE | c.790A>G (p.Ser264Gly)
| ClinVar dbSNP |
19 | g.856150A>T | CA402919543 | ELANE | c.790A>T (p.Ser264Cys)
| gnomAD v4 |
19 | g.856151G>A | CA402919545 | ELANE | c.791G>A (p.Ser264Asn)
| |
19 | g.856151G>C | CA402919547 | ELANE | c.791G>C (p.Ser264Thr)
| |
19 | g.856151G= | CA2317361702 | ELANE | c.791G= (p.Ser264=)
| |
19 | g.856151G>T | CA402919548 | ELANE | c.791G>T (p.Ser264Ile)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.856152C>A | CA402919552 | ELANE | c.792C>A (p.Ser264Arg)
| |
19 | g.856152C>G | CA402919550 | ELANE | c.792C>G (p.Ser264Arg)
| gnomAD v4 |
19 | g.856152C>T | CA504687443 | ELANE | c.792C>T (p.Ser264=)
| |
19 | g.856153A= | CA2317361703 | ELANE | c.793A= (p.Arg265=)
| |
19 | g.856153A>C | CA9026168 | ELANE | c.793A>C (p.Arg265=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.856153A>G | CA402919554 | ELANE | c.793A>G (p.Arg265Gly)
| |
19 | g.856153A>T | CA402919555 | ELANE | c.793A>T (p.Arg265Trp)
| |
19 | g.856154G>A | CA402919558 | ELANE | c.794G>A (p.Arg265Lys)
| |
19 | g.856154G>C | CA402919559 | ELANE | c.794G>C (p.Arg265Thr)
| |
19 | g.856154G>T | CA402919561 | ELANE | c.794G>T (p.Arg265Met)
| |
19 | g.856155G>A | CA504687459 | ELANE | c.795G>A (p.Arg265=)
| gnomAD v4 |
19 | g.856155G>C | CA402919563 | ELANE | c.795G>C (p.Arg265Ser)
| dbSNP gnomAD v4 |
19 | g.856155G= | CA2317361704 | ELANE | c.795G= (p.Arg265=)
| |
19 | g.856155G>T | CA402919565 | ELANE | c.795G>T (p.Arg265Ser)
| |
19 | g.856156A= | CA2317361705 | ELANE | c.796A= (p.Thr266=)
| |
19 | g.856156A>C | CA402919566 | ELANE | c.796A>C (p.Thr266Pro)
| |
19 | g.856156A>G | CA402919568 | ELANE | c.796A>G (p.Thr266Ala)
| |
19 | g.856156A>T | CA402919570 | ELANE | c.796A>T (p.Thr266Ser)
| |
19 | g.856156_856157insG | CA2317361706 | ELANE | c.796_797insG (p.Thr266SerfsTer24)
| dbSNP gnomAD v4 |
19 | g.856157C>A | CA9026169 | ELANE | c.797C>A (p.Thr266Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.856157C= | CA2317361707 | ELANE | c.797C= (p.Thr266=)
| |
19 | g.856157C>G | CA402919572 | ELANE | c.797C>G (p.Thr266Ser)
| |
19 | g.856157C>T | CA402919573 | ELANE | c.797C>T (p.Thr266Ile)
| |
19 | g.856159del | CA2587805476 | ELANE | c.799del (p.His267ThrfsTer?)
| gnomAD v4 |
19 | g.856158C>A | CA9026170 | ELANE | c.798C>A (p.Thr266=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856158C= | CA2317361708 | ELANE | c.798C= (p.Thr266=)
| |
19 | g.856158C>G | CA504687477 | ELANE | c.798C>G (p.Thr266=)
| |
19 | g.856158C>T | CA303945476 | ELANE | c.798C>T (p.Thr266=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.856159C>A | CA402919575 | ELANE | c.799C>A (p.His267Asn)
| |
19 | g.856159C>G | CA402919576 | ELANE | c.799C>G (p.His267Asp)
| |
19 | g.856159C>T | CA402919578 | ELANE | c.799C>T (p.His267Tyr)
| |
19 | g.856160A>C | CA402919580 | ELANE | c.800A>C (p.His267Pro)
| |
19 | g.856160A>G | CA402919582 | ELANE | c.800A>G (p.His267Arg)
| |
19 | g.856160A>T | CA402919584 | ELANE | c.800A>T (p.His267Leu)
| |
19 | g.856161C>A | CA402919585 | ELANE | c.801C>A (p.His267Gln)
| |
19 | g.856161C>G | CA402919586 | ELANE | c.801C>G (p.His267Gln)
| gnomAD v4 |
19 | g.856161C>T | CA504687503 | ELANE | c.801C>T (p.His267=)
| |
19 | g.856162T>A | CA402919587 | ELANE | c.802T>A (p.Ter268Arg)
| |
19 | g.856162T>C | CA402919588 | ELANE | c.802T>C (p.Ter268Arg)
| |
19 | g.856162T>G | CA402919589 | ELANE | c.802T>G (p.Ter268Gly)
| |
19 | g.856162_856165delinsTGAG | CA2317361709 | ELANE | c.802_*1delinsTGAG (n.[c.802_*1delinsTGAG;Ter268=])
| |
19 | g.856163G>A | CA504687507 | ELANE | c.803G>A (p.Ter268=)
| COSMIC |
19 | g.856163G>C | CA402919591 | ELANE | c.803G>C (p.Ter268Ser)
| ClinVar |
19 | g.856163G>T | CA402919593 | ELANE | c.803G>T (p.Ter268Leu)
| |
19 | g.856163_856165del | CA9026171 | ELANE | c.803_*1del (n.[c.803_*1del;Ter268=])
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.856164A>C | CA402919597 | ELANE | c.804A>C (p.Ter268Cys)
| |
19 | g.856164A>G | CA402919598 | ELANE | c.804A>G (p.Ter268Trp)
| |
19 | g.856164A>T | CA402919596 | ELANE | c.804A>T (p.Ter268Cys)
| |
19 | g.856165G>A | CA504687510 | ELANE | c.*1G>A (n.*1G>A)
| gnomAD v4 |
19 | g.856165G>C | CA2587805487 | ELANE | c.*1G>C (n.*1G>C)
| gnomAD v4 |
19 | g.856166A= | CA2317361710 | ELANE | c.*2A= (n.*2A=)
| |
19 | g.856166A>G | CA915951614 | ELANE | c.*2A>G (n.*2A>G)
| ClinVar dbSNP |
19 | g.856167A= | CA2317361711 | ELANE | c.*3A= (n.*3A=)
| |
19 | g.856167A>G | CA303945488 | ELANE | c.*3A>G (n.*3A>G)
| dbSNP gnomAD v4 |
19 | g.856168G>A | CA2587805490 | ELANE | c.*4G>A (n.*4G>A)
| gnomAD v4 |
19 | g.856170G>A | CA2587805492 | ELANE | c.*6G>A (n.*6G>A)
| gnomAD v4 |
19 | g.856170G>T | CA2559967715 | ELANE | c.*6G>T (n.*6G>T)
| gnomAD v4 |
19 | g.856172T>A | CA9026172 | ELANE | c.*8T>A (n.*8T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.856172T= | CA2317361712 | ELANE | c.*8T= (n.*8T=)
| |
19 | g.856173G>A | CA9026173 | ELANE | c.*9G>A (n.*9G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856173G= | CA2317361713 | ELANE | c.*9G= (n.*9G=)
| |