| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.855655C>A | CA402918149 | ELANE | c.458C>A (p.Ala153Asp) | ClinVar |
| 19 | g.855655C>G | CA402918151 | ELANE | c.458C>G (p.Ala153Gly) | |
| 19 | g.855655C>T | CA402918154 | ELANE | c.458C>T (p.Ala153Val) | gnomAD v4 |
| 19 | g.855656C>A | CA504881905 | ELANE | c.459C>A (p.Ala153=) | gnomAD v4 |
| 19 | g.855656C= | CA2317361396 | ELANE | c.459C= (p.Ala153=) | |
| 19 | g.855656C>G | CA504881906 | ELANE | c.459C>G (p.Ala153=) | |
| 19 | g.855656C>T | CA504881908 | ELANE | c.459C>T (p.Ala153=) | dbSNP |
| 19 | g.855657A>C | CA402918156 | ELANE | c.460A>C (p.Met154Leu) | |
| 19 | g.855657A>G | CA402918159 | ELANE | c.460A>G (p.Met154Val) | |
| 19 | g.855657A>T | CA402918163 | ELANE | c.460A>T (p.Met154Leu) | |
| 19 | g.855658T>A | CA402918173 | ELANE | c.461T>A (p.Met154Lys) | |
| 19 | g.855658T>C | CA402918172 | ELANE | c.461T>C (p.Met154Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855658T>G | CA402918170 | ELANE | c.461T>G (p.Met154Arg) | ClinVar dbSNP |
| 19 | g.855658T= | CA2317361397 | ELANE | c.461T= (p.Met154=) | |
| 19 | g.855659G>A | CA402918175 | ELANE | c.462G>A (p.Met154Ile) | gnomAD v4 |
| 19 | g.855659G>C | CA402918176 | ELANE | c.462G>C (p.Met154Ile) | |
| 19 | g.855659G= | CA2317361398 | ELANE | c.462G= (p.Met154=) | |
| 19 | g.855659G>T | CA402918179 | ELANE | c.462G>T (p.Met154Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855660G>A | CA402918181 | ELANE | c.463G>A (p.Gly155Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.855660G>C | CA402918183 | ELANE | c.463G>C (p.Gly155Arg) | |
| 19 | g.855660G= | CA2317361399 | ELANE | c.463G= (p.Gly155=) | |
| 19 | g.855660G>T | CA402918186 | ELANE | c.463G>T (p.Gly155Cys) | gnomAD v4 |
| 19 | g.855661G>A | CA402918190 | ELANE | c.464G>A (p.Gly155Asp) | gnomAD v4 |
| 19 | g.855661G>C | CA402918192 | ELANE | c.464G>C (p.Gly155Ala) | COSMIC |
| 19 | g.855661G>T | CA402918195 | ELANE | c.464G>T (p.Gly155Val) | gnomAD v4 |
| 19 | g.855662C>A | CA504881912 | ELANE | c.465C>A (p.Gly155=) | |
| 19 | g.855662C>G | CA504881913 | ELANE | c.465C>G (p.Gly155=) | |
| 19 | g.855662C>T | CA504881914 | ELANE | c.465C>T (p.Gly155=) | gnomAD v4 |
| 19 | g.855662_855685delinsCTGGGGCCTTCTGGGCAGGAACCG | CA2317361400 | ELANE | c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG (p.Gly155=) | |
| 19 | g.855663T>A | CA402918196 | ELANE | c.466T>A (p.Trp156Arg) | ClinVar |
| 19 | g.855663T>C | CA402918199 | ELANE | c.466T>C (p.Trp156Arg) | |
| 19 | g.855663T>G | CA402918201 | ELANE | c.466T>G (p.Trp156Gly) | |
| 19 | g.855663T= | CA2317361401 | ELANE | c.466T= (p.Trp156=) | |
| 19 | g.855667_855689del | CA631295190 | ELANE | c.470_492del (p.Gly157AspfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.855664G>A | CA402918207 | ELANE | c.467G>A (p.Trp156Ter) | dbSNP gnomAD v4 |
| 19 | g.855664G>C | CA402918203 | ELANE | c.467G>C (p.Trp156Ser) | ClinVar dbSNP |
| 19 | g.855664G= | CA2317361403 | ELANE | c.467G= (p.Trp156=) | |
| 19 | g.855664G>T | CA402918205 | ELANE | c.467G>T (p.Trp156Leu) | gnomAD v4 COSMIC |
| 19 | g.855667dup | CA2317361402 | ELANE | c.470dup (p.Leu158ProfsTer?) | dbSNP |
| 19 | g.855667del | CA2587805319 | ELANE | c.470del (p.Gly157AlafsTer18) | gnomAD v4 |
| 19 | g.855665G>A | CA402918210 | ELANE | c.468G>A (p.Trp156Ter) | |
| 19 | g.855665G>C | CA402918211 | ELANE | c.468G>C (p.Trp156Cys) | |
| 19 | g.855665G>T | CA402918215 | ELANE | c.468G>T (p.Trp156Cys) | gnomAD v4 |
| 19 | g.855666G>A | CA402918218 | ELANE | c.469G>A (p.Gly157Ser) | ClinVar |
| 19 | g.855666G>C | CA402918220 | ELANE | c.469G>C (p.Gly157Arg) | |
| 19 | g.855666G= | CA2317361404 | ELANE | c.469G= (p.Gly157=) | |
| 19 | g.855666G>T | CA303944803 | ELANE | c.469G>T (p.Gly157Cys) | dbSNP gnomAD v4 |
| 19 | g.855667G>A | CA402918226 | ELANE | c.470G>A (p.Gly157Asp) | gnomAD v4 |
| 19 | g.855667G>C | CA402918228 | ELANE | c.470G>C (p.Gly157Ala) | |
| 19 | g.855667G>T | CA402918230 | ELANE | c.470G>T (p.Gly157Val) | gnomAD v4 |