| 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)
| |
| 19 | g.856070del | CA2695227827 | ELANE | c.710del (p.Gln237ArgfsTer3)
| |
| 19 | g.856070A>C | CA402919238 | ELANE | c.710A>C (p.Gln237Pro)
| |
| 19 | g.856070A>G | CA402919240 | ELANE | c.710A>G (p.Gln237Arg)
| gnomAD v4 |
| 19 | g.856070A>T | CA402919241 | ELANE | c.710A>T (p.Gln237Leu)
| gnomAD v4 |
| 19 | g.856071G>A | CA9026148 | ELANE | c.711G>A (p.Gln237=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.856071G>C | CA402919244 | ELANE | c.711G>C (p.Gln237His)
| gnomAD v4 |
| 19 | g.856071G= | CA2317361658 | ELANE | c.711G= (p.Gln237=)
| |
| 19 | g.856071G>T | CA402919246 | ELANE | c.711G>T (p.Gln237His)
| gnomAD v4 |
| 19 | g.856072T>A | CA402919248 | ELANE | c.712T>A (p.Phe238Ile)
| |
| 19 | g.856072T>C | CA402919250 | ELANE | c.712T>C (p.Phe238Leu)
| COSMIC |
| 19 | g.856072T>G | CA402919251 | ELANE | c.712T>G (p.Phe238Val)
| |
| 19 | g.856073T>A | CA402919255 | ELANE | c.713T>A (p.Phe238Tyr)
| |
| 19 | g.856073T>C | CA402919257 | ELANE | c.713T>C (p.Phe238Ser)
| |
| 19 | g.856073T>G | CA402919253 | ELANE | c.713T>G (p.Phe238Cys)
| |
| 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 |
