Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.855634_855654dup | CA2573155744 | ELANE | c.437_457dup (p.Leu152_Ala153insGlyAsnGlyValGlnCysLeu) | ClinVar dbSNP |
19 | g.855648_855649dup | CA2587805317 | ELANE | c.451_452dup (p.Leu152AlafsTer24) | gnomAD v4 |
19 | g.855649G>A | CA303944794 | ELANE | c.452G>A (p.Cys151Tyr) | ClinVar dbSNP gnomAD v2 |
19 | g.855649G>C | CA402918122 | ELANE | c.452G>C (p.Cys151Ser) | ClinVar dbSNP |
19 | g.855649G= | CA2317361392 | ELANE | c.452G= (p.Cys151=) | |
19 | g.855649G>T | CA10583962 | ELANE | c.452G>T (p.Cys151Phe) | ClinVar dbSNP gnomAD v4 |
19 | g.855650C>A | CA402918126 | ELANE | c.453C>A (p.Cys151Ter) | gnomAD v4 |
19 | g.855650C= | CA2317361393 | ELANE | c.453C= (p.Cys151=) | |
19 | g.855650C>G | CA402918128 | ELANE | c.453C>G (p.Cys151Trp) | |
19 | g.855650C>T | CA504881899 | ELANE | c.453C>T (p.Cys151=) | ClinVar dbSNP gnomAD v4 |
19 | g.855651del | CA2587805318 | ELANE | c.454del (p.Leu152TrpfsTer23) | gnomAD v4 |
19 | g.855651C>A | CA402918130 | ELANE | c.454C>A (p.Leu152Met) | |
19 | g.855651C= | CA2317361394 | ELANE | c.454C= (p.Leu152=) | |
19 | g.855651C>G | CA402918132 | ELANE | c.454C>G (p.Leu152Val) | |
19 | g.855651C>T | CA9026066 | ELANE | c.454C>T (p.Leu152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855652T>A | CA402918140 | ELANE | c.455T>A (p.Leu152Gln) | |
19 | g.855652T>C | CA402918135 | ELANE | c.455T>C (p.Leu152Pro) | |
19 | g.855652T>G | CA402918137 | ELANE | c.455T>G (p.Leu152Arg) | |
19 | g.855653G>A | CA9026067 | ELANE | c.456G>A (p.Leu152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855653G>C | CA504881902 | ELANE | c.456G>C (p.Leu152=) | |
19 | g.855653G= | CA2317361395 | ELANE | c.456G= (p.Leu152=) | |
19 | g.855653G>T | CA504881903 | ELANE | c.456G>T (p.Leu152=) | gnomAD v4 |
19 | g.855654G>A | CA402918144 | ELANE | c.457G>A (p.Ala153Thr) | gnomAD v4 |
19 | g.855654G>C | CA402918145 | ELANE | c.457G>C (p.Ala153Pro) | ClinVar |
19 | g.855654G>T | CA402918146 | ELANE | c.457G>T (p.Ala153Ser) | gnomAD v4 |
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 |