19 | g.852285_852287dup | CA631007505 | ELANE | c.-44_-42dup (n.-44_-42dup)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852286G>A | CA992485343 | ELANE | c.-43G>A (n.-43G>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852286G= | CA2317359497 | ELANE | c.-43G= (n.-43G=)
| |
19 | g.852286G>T | CA2587804550 | ELANE | c.-43G>T (n.-43G>T)
| gnomAD v4 |
19 | g.852287G>A | CA631007506 | ELANE | c.-42G>A (n.-42G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852287G>C | CA9025886 | ELANE | c.-42G>C (n.-42G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852287G= | CA2317359498 | ELANE | c.-42G= (n.-42G=)
| |
19 | g.852287G>T | CA2587804551 | ELANE | c.-42G>T (n.-42G>T)
| gnomAD v4 |
19 | g.852288C>A | CA290732 | ELANE | c.-41C>A (n.-41C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852288C= | CA2317359499 | ELANE | c.-41C= (n.-41C=)
| |
19 | g.852288C>T | CA631007507 | ELANE | c.-41C>T (n.-41C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852289G>A | CA9025887 | ELANE | c.-40G>A (n.-40G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852289G>C | CA2587804552 | ELANE | c.-40G>C (n.-40G>C)
| gnomAD v4 |
19 | g.852289G= | CA2317359500 | ELANE | c.-40G= (n.-40G=)
| |
19 | g.852289G>T | CA2587804553 | ELANE | c.-40G>T (n.-40G>T)
| gnomAD v4 |
19 | g.852290G>A | CA2587804554 | ELANE | c.-39G>A (n.-39G>A)
| gnomAD v4 |
19 | g.852290G>C | CA631007508 | ELANE | c.-39G>C (n.-39G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852290G= | CA2317359501 | ELANE | c.-39G= (n.-39G=)
| |
19 | g.852290G>T | CA2587804555 | ELANE | c.-39G>T (n.-39G>T)
| gnomAD v4 |
19 | g.852291G>A | CA2587804556 | ELANE | c.-38G>A (n.-38G>A)
| gnomAD v4 |
19 | g.852291G= | CA2317359502 | ELANE | c.-38G= (n.-38G=)
| |
19 | g.852291G>T | CA992485352 | ELANE | c.-38G>T (n.-38G>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852292C>T | CA657479999 | ELANE | c.-37C>T (n.-37C>T)
| gnomAD v4 COSMIC |
19 | g.852293A>G | CA2587804557 | ELANE | c.-36A>G (n.-36A>G)
| gnomAD v4 |
19 | g.852294C>A | CA2317359504 | ELANE | c.-35C>A (n.-35C>A)
| dbSNP |
19 | g.852294C= | CA2317359503 | ELANE | c.-35C= (n.-35C=)
| |
19 | g.852294C>T | CA992485355 | ELANE | c.-35C>T (n.-35C>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852295G>A | CA631007509 | ELANE | c.-34G>A (n.-34G>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852295G>C | CA2587804558 | ELANE | c.-34G>C (n.-34G>C)
| gnomAD v4 |
19 | g.852295G= | CA2317359505 | ELANE | c.-34G= (n.-34G=)
| |
19 | g.852295G>T | CA884312212 | ELANE | c.-34G>T (n.-34G>T)
| dbSNP gnomAD v4 |
19 | g.852296G>T | CA2587804559 | ELANE | c.-33G>T (n.-33G>T)
| gnomAD v4 |
19 | g.852297A= | CA2317359506 | ELANE | c.-32A= (n.-32A=)
| |
19 | g.852297A>G | CA2587804560 | ELANE | c.-32A>G (n.-32A>G)
| gnomAD v4 |
19 | g.852297A>T | CA992485360 | ELANE | c.-32A>T (n.-32A>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852298G>C | CA2587804561 | ELANE | c.-31G>C (n.-31G>C)
| gnomAD v4 |
19 | g.852298G>T | CA2587804562 | ELANE | c.-31G>T (n.-31G>T)
| gnomAD v4 |
19 | g.852299G>T | CA2587804563 | ELANE | c.-30G>T (n.-30G>T)
| gnomAD v4 |
19 | g.852300G>C | CA2587804564 | ELANE | c.-29G>C (n.-29G>C)
| gnomAD v4 |
19 | g.852300G>T | CA2587804565 | ELANE | c.-29G>T (n.-29G>T)
| gnomAD v4 |
19 | g.852301G>A | CA2587804566 | ELANE | c.-28G>A (n.-28G>A)
| gnomAD v4 |
19 | g.852301G>T | CA2587804567 | ELANE | c.-28G>T (n.-28G>T)
| gnomAD v4 |
19 | g.852302C>A | CA2587804568 | ELANE | c.-27C>A (n.-27C>A)
| gnomAD v4 |
19 | g.852302C>T | CA2582306243 | ELANE | c.-27C>T (n.-27C>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852303A>G | CA2587804569 | ELANE | c.-26A>G (n.-26A>G)
| gnomAD v4 |
19 | g.852303A>T | CA2587804570 | ELANE | c.-26A>T (n.-26A>T)
| gnomAD v4 |
19 | g.852304G>T | CA2587804571 | ELANE | c.-25G>T (n.-25G>T)
| gnomAD v4 |
19 | g.852305A>G | CA2587804572 | ELANE | c.-24A>G (n.-24A>G)
| gnomAD v4 |
19 | g.852306G>C | CA2587804573 | ELANE | c.-23G>C (n.-23G>C)
| gnomAD v4 |
19 | g.852306G>T | CA2587804574 | ELANE | c.-23G>T (n.-23G>T)
| gnomAD v4 |
19 | g.852308C>A | CA631007510 | ELANE | c.-21C>A (n.-21C>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852308C= | CA2317359507 | ELANE | c.-21C= (n.-21C=)
| |
19 | g.852308C>T | CA303942145 | ELANE | c.-21C>T (n.-21C>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852311del | CA2587804575 | ELANE | c.-18del (n.-18del)
| gnomAD v4 |
19 | g.852310C>A | CA2587804576 | ELANE | c.-19C>A (n.-19C>A)
| gnomAD v4 |
19 | g.852310C= | CA2317359508 | ELANE | c.-19C= (n.-19C=)
| |
19 | g.852310C>G | CA2587804577 | ELANE | c.-19C>G (n.-19C>G)
| gnomAD v4 |
19 | g.852310C>T | CA2317359509 | ELANE | c.-19C>T (n.-19C>T)
| dbSNP gnomAD v4 |
19 | g.852311C= | CA2317359510 | ELANE | c.-18C= (n.-18C=)
| |
19 | g.852311C>G | CA9025888 | ELANE | c.-18C>G (n.-18C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852311C>T | CA303942156 | ELANE | c.-18C>T (n.-18C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852312G>A | CA9025889 | ELANE | c.-17G>A (n.-17G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852312G>C | CA9025890 | ELANE | c.-17G>C (n.-17G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852312G= | CA2317359511 | ELANE | c.-17G= (n.-17G=)
| |
19 | g.852312G>T | CA2587804578 | ELANE | c.-17G>T (n.-17G>T)
| gnomAD v4 |
19 | g.852313G>T | CA2587804579 | ELANE | c.-16G>T (n.-16G>T)
| gnomAD v4 |
19 | g.852315G>T | CA2587804580 | ELANE | c.-14G>T (n.-14G>T)
| gnomAD v4 |
19 | g.852316C>A | CA2587804582 | ELANE | c.-13C>A (n.-13C>A)
| gnomAD v4 |
19 | g.852316C= | CA2317359512 | ELANE | c.-13C= (n.-13C=)
| |
19 | g.852316C>T | CA9025891 | ELANE | c.-13C>T (n.-13C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852319del | CA2587804581 | ELANE | c.-10del (n.-10del)
| gnomAD v4 |
19 | g.852317C>A | CA9025892 | ELANE | c.-12C>A (n.-12C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852317C= | CA2317359513 | ELANE | c.-12C= (n.-12C=)
| |
19 | g.852318C= | CA2317359514 | ELANE | c.-11C= (n.-11C=)
| |
19 | g.852318C>T | CA9025893 | ELANE | c.-11C>T (n.-11C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852319C= | CA2317359515 | ELANE | c.-10C= (n.-10C=)
| |
19 | g.852319C>G | CA2587804583 | ELANE | c.-10C>G (n.-10C>G)
| gnomAD v4 |
19 | g.852319C>T | CA9025894 | ELANE | c.-10C>T (n.-10C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852320A>T | CA2587804584 | ELANE | c.-9A>T (n.-9A>T)
| gnomAD v4 |
19 | g.852321G>A | CA2587804585 | ELANE | c.-8G>A (n.-8G>A)
| gnomAD v4 |
19 | g.852321G>T | CA2587804586 | ELANE | c.-8G>T (n.-8G>T)
| gnomAD v4 |
19 | g.852322C>A | CA2317359517 | ELANE | c.-7C>A (n.-7C>A)
| dbSNP gnomAD v4 |
19 | g.852322C= | CA2317359516 | ELANE | c.-7C= (n.-7C=)
| |
19 | g.852322C>G | CA992485369 | ELANE | c.-7C>G (n.-7C>G)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852322C>T | CA2587804587 | ELANE | c.-7C>T (n.-7C>T)
| gnomAD v4 |
19 | g.852324C= | CA2317359518 | ELANE | c.-5C= (n.-5C=)
| |
19 | g.852324C>T | CA631007513 | ELANE | c.-5C>T (n.-5C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852325C= | CA2317359519 | ELANE | c.-4C= (n.-4C=)
| |
19 | g.852325C>G | CA303942175 | ELANE | c.-4C>G (n.-4C>G)
| dbSNP gnomAD v4 |
19 | g.852325C>T | CA2317359520 | ELANE | c.-4C>T (n.-4C>T)
| dbSNP gnomAD v4 |
19 | g.852326A>T | CA2695227776 | ELANE | c.-3A>T (n.-3A>T)
| |
19 | g.852327C>G | CA2587804588 | ELANE | c.-2C>G (n.-2C>G)
| gnomAD v4 |
19 | g.852327C>T | CA2587804589 | ELANE | c.-2C>T (n.-2C>T)
| gnomAD v4 |
19 | g.852328C>A | CA2813234019 | ELANE | c.-1C>A (n.-1C>A)
| |
19 | g.852329A>C | CA402914141 | ELANE | c.1A>C (p.Met1Leu)
| |
19 | g.852329A>G | CA402914142 | ELANE | c.1A>G (p.Met1Val)
| ClinVar dbSNP |
19 | g.852329A>T | CA402914143 | ELANE | c.1A>T (p.Met1Leu)
| |
19 | g.852330T>A | CA402914144 | ELANE | c.2T>A (p.Met1Lys)
| |
19 | g.852330T>C | CA402914145 | ELANE | c.2T>C (p.Met1Thr)
| ClinVar dbSNP |
19 | g.852330T>G | CA402914146 | ELANE | c.2T>G (p.Met1Arg)
| |
19 | g.852330T= | CA2317359521 | ELANE | c.2T= (p.Met1=)
| |
19 | g.852331G>A | CA402914147 | ELANE | c.3G>A (p.Met1Ile)
| |
19 | g.852331G>C | CA402914148 | ELANE | c.3G>C (p.Met1Ile)
| |
19 | g.852331G>T | CA402914149 | ELANE | c.3G>T (p.Met1Ile)
| gnomAD v4 |
19 | g.852332A>C | CA402914152 | ELANE | c.4A>C (p.Thr2Pro)
| |
19 | g.852332A>G | CA402914151 | ELANE | c.4A>G (p.Thr2Ala)
| gnomAD v4 |
19 | g.852332A>T | CA402914150 | ELANE | c.4A>T (p.Thr2Ser)
| |
19 | g.852333C>A | CA402914153 | ELANE | c.5C>A (p.Thr2Asn)
| dbSNP gnomAD v4 |
19 | g.852333C= | CA2317359522 | ELANE | c.5C= (p.Thr2=)
| |
19 | g.852333C>G | CA402914154 | ELANE | c.5C>G (p.Thr2Ser)
| |
19 | g.852333C>T | CA402914155 | ELANE | c.5C>T (p.Thr2Ile)
| |
19 | g.852334C>A | CA504684166 | ELANE | c.6C>A (p.Thr2=)
| |
19 | g.852334C= | CA2317359523 | ELANE | c.6C= (p.Thr2=)
| |
19 | g.852334C>G | CA504684168 | ELANE | c.6C>G (p.Thr2=)
| |
19 | g.852334C>T | CA504684164 | ELANE | c.6C>T (p.Thr2=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852335C>A | CA402914156 | ELANE | c.7C>A (p.Leu3Ile)
| gnomAD v4 |
19 | g.852335C= | CA2317359524 | ELANE | c.7C= (p.Leu3=)
| |
19 | g.852335C>G | CA402914157 | ELANE | c.7C>G (p.Leu3Val)
| dbSNP gnomAD v2 |
19 | g.852335C>T | CA402914158 | ELANE | c.7C>T (p.Leu3Phe)
| gnomAD v4 |
19 | g.852336T>A | CA402914159 | ELANE | c.8T>A (p.Leu3His)
| |
19 | g.852336T>C | CA402914160 | ELANE | c.8T>C (p.Leu3Pro)
| gnomAD v4 |
19 | g.852336T>G | CA402914161 | ELANE | c.8T>G (p.Leu3Arg)
| |
19 | g.852337C>A | CA504684178 | ELANE | c.9C>A (p.Leu3=)
| dbSNP gnomAD v4 |
19 | g.852337C= | CA2317359525 | ELANE | c.9C= (p.Leu3=)
| |
19 | g.852337C>G | CA504684180 | ELANE | c.9C>G (p.Leu3=)
| |
19 | g.852337C>T | CA504684182 | ELANE | c.9C>T (p.Leu3=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852338G>A | CA9025895 | ELANE | c.10G>A (p.Gly4Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852338G>C | CA402914162 | ELANE | c.10G>C (p.Gly4Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.852338G= | CA2317359526 | ELANE | c.10G= (p.Gly4=)
| |
19 | g.852338G>T | CA402914163 | ELANE | c.10G>T (p.Gly4Cys)
| gnomAD v4 |
19 | g.852339G>A | CA402914166 | ELANE | c.11G>A (p.Gly4Asp)
| gnomAD v4 |
19 | g.852339G>C | CA402914165 | ELANE | c.11G>C (p.Gly4Ala)
| |
19 | g.852339G>T | CA402914164 | ELANE | c.11G>T (p.Gly4Val)
| gnomAD v4 |
19 | g.852343_852345dup | CA504684183 | ELANE | c.15_17dup (p.Arg6_Leu7insArg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852340C>A | CA504684184 | ELANE | c.12C>A (p.Gly4=)
| |
19 | g.852340C>G | CA504684185 | ELANE | c.12C>G (p.Gly4=)
| |
19 | g.852340C>T | CA504684186 | ELANE | c.12C>T (p.Gly4=)
| gnomAD v4 |
19 | g.852341C>A | CA402914167 | ELANE | c.13C>A (p.Arg5Ser)
| COSMIC |
19 | g.852341C= | CA2317359527 | ELANE | c.13C= (p.Arg5=)
| |
19 | g.852341C>G | CA303942183 | ELANE | c.13C>G (p.Arg5Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852341C>T | CA402914168 | ELANE | c.13C>T (p.Arg5Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852342G>A | CA303942184 | ELANE | c.14G>A (p.Arg5His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.852342G>C | CA402914169 | ELANE | c.14G>C (p.Arg5Pro)
| |
19 | g.852342G= | CA2317359528 | ELANE | c.14G= (p.Arg5=)
| |
19 | g.852342G>T | CA402914170 | ELANE | c.14G>T (p.Arg5Leu)
| ClinVar gnomAD v4 |
19 | g.852343C>A | CA504684188 | ELANE | c.15C>A (p.Arg5=)
| |
19 | g.852343C>G | CA504684189 | ELANE | c.15C>G (p.Arg5=)
| |
19 | g.852343C>T | CA504684190 | ELANE | c.15C>T (p.Arg5=)
| gnomAD v4 |
19 | g.852344del | CA2587804590 | ELANE | c.16del (p.Arg6AspfsTer?)
| gnomAD v4 |
19 | g.852344C>A | CA9025896 | ELANE | c.16C>A (p.Arg6=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852344C= | CA2317359529 | ELANE | c.16C= (p.Arg6=)
| |
19 | g.852344C>G | CA402914171 | ELANE | c.16C>G (p.Arg6Gly)
| gnomAD v4 |
19 | g.852344C>T | CA402914172 | ELANE | c.16C>T (p.Arg6Ter)
| gnomAD v4 |
19 | g.852345G>A | CA402914173 | ELANE | c.17G>A (p.Arg6Gln)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852345G>C | CA402914174 | ELANE | c.17G>C (p.Arg6Pro)
| dbSNP gnomAD v4 |
19 | g.852345G= | CA2317359530 | ELANE | c.17G= (p.Arg6=)
| |
19 | g.852345G>T | CA402914175 | ELANE | c.17G>T (p.Arg6Leu)
| gnomAD v4 |
19 | g.852346A>C | CA504684200 | ELANE | c.18A>C (p.Arg6=)
| gnomAD v4 |
19 | g.852346A>G | CA504684201 | ELANE | c.18A>G (p.Arg6=)
| |
19 | g.852346A>T | CA504684202 | ELANE | c.18A>T (p.Arg6=)
| |
19 | g.852347C>A | CA402914177 | ELANE | c.19C>A (p.Leu7Ile)
| |
19 | g.852347C= | CA2317359531 | ELANE | c.19C= (p.Leu7=)
| |
19 | g.852347C>G | CA402914176 | ELANE | c.19C>G (p.Leu7Val)
| |
19 | g.852347C>T | CA9025897 | ELANE | c.19C>T (p.Leu7Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852348T>A | CA402914178 | ELANE | c.20T>A (p.Leu7His)
| |
19 | g.852348T>C | CA402914180 | ELANE | c.20T>C (p.Leu7Pro)
| |
19 | g.852348T>G | CA402914179 | ELANE | c.20T>G (p.Leu7Arg)
| |
19 | g.852349C>A | CA504684215 | ELANE | c.21C>A (p.Leu7=)
| gnomAD v4 |
19 | g.852349C= | CA2317359532 | ELANE | c.21C= (p.Leu7=)
| |
19 | g.852349C>G | CA504684217 | ELANE | c.21C>G (p.Leu7=)
| |
19 | g.852349C>T | CA9025898 | ELANE | c.21C>T (p.Leu7=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.852350G>A | CA9025899 | ELANE | c.22G>A (p.Ala8Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852350G>C | CA9025900 | ELANE | c.22G>C (p.Ala8Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852350G= | CA2317359533 | ELANE | c.22G= (p.Ala8=)
| |
19 | g.852350G>T | CA402914181 | ELANE | c.22G>T (p.Ala8Ser)
| gnomAD v4 |
19 | g.852351C>A | CA402914182 | ELANE | c.23C>A (p.Ala8Glu)
| |
19 | g.852351C= | CA2317359534 | ELANE | c.23C= (p.Ala8=)
| |
19 | g.852351C>G | CA303942228 | ELANE | c.23C>G (p.Ala8Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.852351C>T | CA9025901 | ELANE | c.23C>T (p.Ala8Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.852351_852353delinsCGT | CA2317359535 | ELANE | c.23_25delinsCGT (p.Ala8=)
| |
19 | g.852352G>A | CA9025902 | ELANE | c.24G>A (p.Ala8=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852352G>C | CA504684228 | ELANE | c.24G>C (p.Ala8=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.852352G= | CA2317359537 | ELANE | c.24G= (p.Ala8=)
| |
19 | g.852352G>T | CA504684231 | ELANE | c.24G>T (p.Ala8=)
| gnomAD v4 |
19 | g.852354_852355del | CA2317359536 | ELANE | c.26_27del (p.Cys9SerfsTer?)
| dbSNP |
19 | g.852353T>A | CA402914183 | ELANE | c.25T>A (p.Cys9Ser)
| |
19 | g.852353T>C | CA402914184 | ELANE | c.25T>C (p.Cys9Arg)
| ClinVar dbSNP |
19 | g.852353T>G | CA402914185 | ELANE | c.25T>G (p.Cys9Gly)
| |
19 | g.852353T= | CA2317359538 | ELANE | c.25T= (p.Cys9=)
| |
19 | g.852354G>A | CA9025903 | ELANE | c.26G>A (p.Cys9Tyr)
| dbSNP ExAC gnomAD v2 |
19 | g.852354G>C | CA402914186 | ELANE | c.26G>C (p.Cys9Ser)
| |
19 | g.852354G= | CA2317359539 | ELANE | c.26G= (p.Cys9=)
| |
19 | g.852354G>T | CA402914187 | ELANE | c.26G>T (p.Cys9Phe)
| gnomAD v4 |
19 | g.852355T>A | CA402914188 | ELANE | c.27T>A (p.Cys9Ter)
| |
19 | g.852355T>C | CA504684244 | ELANE | c.27T>C (p.Cys9=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852355T>G | CA402914189 | ELANE | c.27T>G (p.Cys9Trp)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852355T= | CA2317359540 | ELANE | c.27T= (p.Cys9=)
| |
19 | g.852356C>A | CA402914190 | ELANE | c.28C>A (p.Leu10Ile)
| |
19 | g.852356C>G | CA402914191 | ELANE | c.28C>G (p.Leu10Val)
| |
19 | g.852356C>T | CA402914192 | ELANE | c.28C>T (p.Leu10Phe)
| gnomAD v4 |
19 | g.852359_852384del | CA2576540415 | ELANE | c.31_56del (p.Phe11AlafsTer?)
| |
19 | g.852357T>A | CA402914193 | ELANE | c.29T>A (p.Leu10His)
| gnomAD v4 |
19 | g.852357T>C | CA402914194 | ELANE | c.29T>C (p.Leu10Pro)
| gnomAD v4 |
19 | g.852357T>G | CA402914195 | ELANE | c.29T>G (p.Leu10Arg)
| |
19 | g.852360del | CA2587804591 | ELANE | c.32del (p.Phe11SerfsTer?)
| gnomAD v4 |
19 | g.852359_852360del | CA2813226974 | ELANE | c.31_32del (p.Phe11ProfsTer?)
| |
19 | g.852358T>A | CA504684252 | ELANE | c.30T>A (p.Leu10=)
| |
19 | g.852358T>C | CA504684256 | ELANE | c.30T>C (p.Leu10=)
| |
19 | g.852358T>G | CA504684254 | ELANE | c.30T>G (p.Leu10=)
| |
19 | g.852359T>A | CA402914196 | ELANE | c.31T>A (p.Phe11Ile)
| |
19 | g.852359T>C | CA402914197 | ELANE | c.31T>C (p.Phe11Leu)
| gnomAD v4 |
19 | g.852359T>G | CA402914198 | ELANE | c.31T>G (p.Phe11Val)
| |
19 | g.852360T>A | CA402914200 | ELANE | c.32T>A (p.Phe11Tyr)
| |
19 | g.852360T>C | CA402914201 | ELANE | c.32T>C (p.Phe11Ser)
| |
19 | g.852360T>G | CA402914199 | ELANE | c.32T>G (p.Phe11Cys)
| |
19 | g.852361C>A | CA402914202 | ELANE | c.33C>A (p.Phe11Leu)
| |
19 | g.852361C>G | CA402914203 | ELANE | c.33C>G (p.Phe11Leu)
| |
19 | g.852361C>T | CA504684269 | ELANE | c.33C>T (p.Phe11=)
| COSMIC |
19 | g.852362C>A | CA402914204 | ELANE | c.34C>A (p.Leu12Ile)
| |
19 | g.852362C>G | CA402914205 | ELANE | c.34C>G (p.Leu12Val)
| gnomAD v4 |
19 | g.852362C>T | CA402914206 | ELANE | c.34C>T (p.Leu12Phe)
| |
19 | g.852363T>A | CA402914207 | ELANE | c.35T>A (p.Leu12His)
| |
19 | g.852363T>C | CA402914208 | ELANE | c.35T>C (p.Leu12Pro)
| |
19 | g.852363T>G | CA402914209 | ELANE | c.35T>G (p.Leu12Arg)
| |
19 | g.852364C>A | CA9025904 | ELANE | c.36C>A (p.Leu12=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852364C= | CA2317359541 | ELANE | c.36C= (p.Leu12=)
| |
19 | g.852364C>G | CA504684280 | ELANE | c.36C>G (p.Leu12=)
| ClinVar |
19 | g.852364C>T | CA504684281 | ELANE | c.36C>T (p.Leu12=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852365G>A | CA402914210 | ELANE | c.37G>A (p.Ala13Thr)
| |
19 | g.852365G>C | CA402914211 | ELANE | c.37G>C (p.Ala13Pro)
| |
19 | g.852365G>T | CA402914212 | ELANE | c.37G>T (p.Ala13Ser)
| |
19 | g.852366C>A | CA9025905 | ELANE | c.38C>A (p.Ala13Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852366C= | CA2317359542 | ELANE | c.38C= (p.Ala13=)
| |
19 | g.852366C>G | CA402914214 | ELANE | c.38C>G (p.Ala13Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.852366C>T | CA402914213 | ELANE | c.38C>T (p.Ala13Val)
| dbSNP gnomAD v4 COSMIC |
19 | g.852367C>A | CA9025907 | ELANE | c.39C>A (p.Ala13=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852367C= | CA2317359543 | ELANE | c.39C= (p.Ala13=)
| |
19 | g.852367C>G | CA9025906 | ELANE | c.39C>G (p.Ala13=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852367C>T | CA504684292 | ELANE | c.39C>T (p.Ala13=)
| gnomAD v4 |
19 | g.852368T>A | CA402914215 | ELANE | c.40T>A (p.Cys14Ser)
| |
19 | g.852368T>C | CA402914216 | ELANE | c.40T>C (p.Cys14Arg)
| |
19 | g.852368T>G | CA402914217 | ELANE | c.40T>G (p.Cys14Gly)
| |
19 | g.852369G>A | CA402914220 | ELANE | c.41G>A (p.Cys14Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852369G>C | CA402914218 | ELANE | c.41G>C (p.Cys14Ser)
| |
19 | g.852369G= | CA2317359544 | ELANE | c.41G= (p.Cys14=)
| |
19 | g.852369G>T | CA402914219 | ELANE | c.41G>T (p.Cys14Phe)
| gnomAD v4 |
19 | g.852370T>A | CA402914221 | ELANE | c.42T>A (p.Cys14Ter)
| |
19 | g.852370T>C | CA504684305 | ELANE | c.42T>C (p.Cys14=)
| |
19 | g.852370T>G | CA402914222 | ELANE | c.42T>G (p.Cys14Trp)
| |
19 | g.852370dup | CA631007532 | ELANE | c.42dup (p.Val15CysfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852371G>A | CA402914223 | ELANE | c.43G>A (p.Val15Ile)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852371G>C | CA402914224 | ELANE | c.43G>C (p.Val15Leu)
| |
19 | g.852371G= | CA2317359545 | ELANE | c.43G= (p.Val15=)
| |
19 | g.852371G>T | CA402914225 | ELANE | c.43G>T (p.Val15Phe)
| gnomAD v4 |
19 | g.852372T>A | CA402914228 | ELANE | c.44T>A (p.Val15Asp)
| |
19 | g.852372T>C | CA402914227 | ELANE | c.44T>C (p.Val15Ala)
| |
19 | g.852372T>G | CA402914226 | ELANE | c.44T>G (p.Val15Gly)
| |
19 | g.852373C>A | CA504684317 | ELANE | c.45C>A (p.Val15=)
| |
19 | g.852373C= | CA2317359546 | ELANE | c.45C= (p.Val15=)
| |
19 | g.852373C>G | CA504684318 | ELANE | c.45C>G (p.Val15=)
| ClinVar dbSNP gnomAD v4 |
19 | g.852373C>T | CA504684321 | ELANE | c.45C>T (p.Val15=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.852374C>A | CA402914229 | ELANE | c.46C>A (p.Leu16Met)
| |
19 | g.852374C>G | CA402914230 | ELANE | c.46C>G (p.Leu16Val)
| |
19 | g.852374C>T | CA504684325 | ELANE | c.46C>T (p.Leu16=)
| gnomAD v4 |
19 | g.852375T>A | CA402914231 | ELANE | c.47T>A (p.Leu16Gln)
| |
19 | g.852375T>C | CA402914233 | ELANE | c.47T>C (p.Leu16Pro)
| |
19 | g.852375T>G | CA402914232 | ELANE | c.47T>G (p.Leu16Arg)
| |
19 | g.852376G>A | CA504684331 | ELANE | c.48G>A (p.Leu16=)
| gnomAD v4 |
19 | g.852376G>C | CA504684334 | ELANE | c.48G>C (p.Leu16=)
| |
19 | g.852376G>T | CA504684335 | ELANE | c.48G>T (p.Leu16=)
| gnomAD v4 |
19 | g.852376_852377delinsGC | CA2317359547 | ELANE | c.48_49delinsGC (p.Leu16=)
| |
19 | g.852377C>A | CA402914234 | ELANE | c.49C>A (p.Pro17Thr)
| |
19 | g.852377C>G | CA402914235 | ELANE | c.49C>G (p.Pro17Ala)
| |
19 | g.852377C>T | CA402914236 | ELANE | c.49C>T (p.Pro17Ser)
| gnomAD v4 |
19 | g.852378del | CA2317359548 | ELANE | c.50del (p.Pro17ArgfsTer?)
| dbSNP |
19 | g.852378C>A | CA402914237 | ELANE | c.50C>A (p.Pro17Gln)
| |
19 | g.852378C>G | CA402914238 | ELANE | c.50C>G (p.Pro17Arg)
| |
19 | g.852378C>T | CA402914239 | ELANE | c.50C>T (p.Pro17Leu)
| gnomAD v4 |
19 | g.852379G>A | CA504684340 | ELANE | c.51G>A (p.Pro17=)
| gnomAD v4 |
19 | g.852379G>C | CA504684341 | ELANE | c.51G>C (p.Pro17=)
| |
19 | g.852379G= | CA2317359549 | ELANE | c.51G= (p.Pro17=)
| |
19 | g.852379G>T | CA504684342 | ELANE | c.51G>T (p.Pro17=)
| ClinVar dbSNP gnomAD v2 |
19 | g.852380G>A | CA402914240 | ELANE | c.52G>A (p.Ala18Thr)
| |
19 | g.852380G>C | CA281498 | ELANE | c.52G>C (p.Ala18Pro)
| ClinVar dbSNP |
19 | g.852380G= | CA2317359550 | ELANE | c.52G= (p.Ala18=)
| |
19 | g.852380G>T | CA402914241 | ELANE | c.52G>T (p.Ala18Ser)
| gnomAD v4 |
19 | g.852381C>A | CA402914242 | ELANE | c.53C>A (p.Ala18Asp)
| |
19 | g.852381C>G | CA402914243 | ELANE | c.53C>G (p.Ala18Gly)
| |
19 | g.852381C>T | CA402914244 | ELANE | c.53C>T (p.Ala18Val)
| gnomAD v4 |
19 | g.852382C>A | CA504684349 | ELANE | c.54C>A (p.Ala18=)
| |
19 | g.852382C= | CA2317359551 | ELANE | c.54C= (p.Ala18=)
| |
19 | g.852382C>G | CA504684350 | ELANE | c.54C>G (p.Ala18=)
| dbSNP |
19 | g.852382C>T | CA504684353 | ELANE | c.54C>T (p.Ala18=)
| |
19 | g.852383T>A | CA402914245 | ELANE | c.55T>A (p.Leu19Met)
| COSMIC |
19 | g.852383T>C | CA504684357 | ELANE | c.55T>C (p.Leu19=)
| |
19 | g.852383T>G | CA402914246 | ELANE | c.55T>G (p.Leu19Val)
| |
19 | g.852384T>A | CA402914247 | ELANE | c.56T>A (p.Leu19Ter)
| |
19 | g.852384T>C | CA402914248 | ELANE | c.56T>C (p.Leu19Ser)
| |
19 | g.852384T>G | CA402914249 | ELANE | c.56T>G (p.Leu19Trp)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852384T= | CA2317359552 | ELANE | c.56T= (p.Leu19=)
| |
19 | g.852385G>A | CA504684361 | ELANE | c.57G>A (p.Leu19=)
| gnomAD v4 |
19 | g.852385G>C | CA402914250 | ELANE | c.57G>C (p.Leu19Phe)
| |
19 | g.852385G>T | CA402914251 | ELANE | c.57G>T (p.Leu19Phe)
| gnomAD v4 |
19 | g.852386C>A | CA402914252 | ELANE | c.58C>A (p.Leu20Met)
| |
19 | g.852386C>G | CA402914253 | ELANE | c.58C>G (p.Leu20Val)
| |
19 | g.852386C>T | CA504684368 | ELANE | c.58C>T (p.Leu20=)
| gnomAD v4 |