Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.856019G>A | CA281044 | ELANE | c.659G>A (p.Arg220Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856019G>C | CA303945312 | ELANE | c.659G>C (p.Arg220Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.856019G= | CA2317361633 | ELANE | c.659G= (p.Arg220=) | |
19 | g.856019G>T | CA402919061 | ELANE | c.659G>T (p.Arg220Leu) | |
19 | g.856022dup | CA2587805403 | ELANE | c.662dup (p.Gly222ArgfsTer?) | gnomAD v4 |
19 | g.856022del | CA2695227820 | ELANE | c.662del (p.Gly221GlufsTer19) | |
19 | g.856020G>A | CA504686609 | ELANE | c.660G>A (p.Arg220=) | dbSNP |
19 | g.856020G>C | CA9026136 | ELANE | c.660G>C (p.Arg220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.856020G= | CA2317361634 | ELANE | c.660G= (p.Arg220=) | |
19 | g.856020G>T | CA504686612 | ELANE | c.660G>T (p.Arg220=) | |
19 | g.856021G>A | CA402919064 | ELANE | c.661G>A (p.Gly221Arg) | |
19 | g.856021G>C | CA402919068 | ELANE | c.661G>C (p.Gly221Arg) | |
19 | g.856021G= | CA2317361635 | ELANE | c.661G= (p.Gly221=) | |
19 | g.856021G>T | CA402919066 | ELANE | c.661G>T (p.Gly221Ter) | ClinVar dbSNP |
19 | g.856022G>A | CA402919070 | ELANE | c.662G>A (p.Gly221Glu) | |
19 | g.856022G>C | CA402919071 | ELANE | c.662G>C (p.Gly221Ala) | |
19 | g.856022G= | CA2317361636 | ELANE | c.662G= (p.Gly221=) | |
19 | g.856022G>T | CA9026137 | ELANE | c.662G>T (p.Gly221Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856023A>C | CA504686631 | ELANE | c.663A>C (p.Gly221=) | |
19 | g.856023A>G | CA504686635 | ELANE | c.663A>G (p.Gly221=) | |
19 | g.856023A>T | CA504686627 | ELANE | c.663A>T (p.Gly221=) | |
19 | g.856024G>A | CA402919073 | ELANE | c.664G>A (p.Gly222Ser) | ClinVar dbSNP |
19 | g.856024G>C | CA402919075 | ELANE | c.664G>C (p.Gly222Arg) | |
19 | g.856024G>T | CA402919076 | ELANE | c.664G>T (p.Gly222Cys) | ClinVar dbSNP |
19 | g.856025G>A | CA402919078 | ELANE | c.665G>A (p.Gly222Asp) | ClinVar dbSNP gnomAD v4 |
19 | g.856025G>C | CA402919079 | ELANE | c.665G>C (p.Gly222Ala) | |
19 | g.856025G= | CA2317361637 | ELANE | c.665G= (p.Gly222=) | |
19 | g.856025G>T | CA402919081 | ELANE | c.665G>T (p.Gly222Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.856026C>A | CA504686646 | ELANE | c.666C>A (p.Gly222=) | |
19 | g.856026C>G | CA504686648 | ELANE | c.666C>G (p.Gly222=) | |
19 | g.856026C>T | CA504686650 | ELANE | c.666C>T (p.Gly222=) | |
19 | g.856027del | CA2695227821 | ELANE | c.667del (p.Cys223AlafsTer17) | |
19 | g.856027T>A | CA402919083 | ELANE | c.667T>A (p.Cys223Ser) | gnomAD v4 |
19 | g.856027T>C | CA402919084 | ELANE | c.667T>C (p.Cys223Arg) | |
19 | g.856027T>G | CA402919086 | ELANE | c.667T>G (p.Cys223Gly) | |
19 | g.856028G>A | CA402919091 | ELANE | c.668G>A (p.Cys223Tyr) | dbSNP |
19 | g.856028G>C | CA402919090 | ELANE | c.668G>C (p.Cys223Ser) | |
19 | g.856028G= | CA2317361638 | ELANE | c.668G= (p.Cys223=) | |
19 | g.856028G>T | CA402919088 | ELANE | c.668G>T (p.Cys223Phe) | |
19 | g.856030_856031del | CA915940693 | ELANE | c.670_671del (p.Ala224LeufsTer?) | |
19 | g.856029C>A | CA402919092 | ELANE | c.669C>A (p.Cys223Ter) | ClinVar dbSNP |
19 | g.856029C= | CA2317361639 | ELANE | c.669C= (p.Cys223=) | |
19 | g.856029C>G | CA402919094 | ELANE | c.669C>G (p.Cys223Trp) | |
19 | g.856029C>T | CA504686671 | ELANE | c.669C>T (p.Cys223=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.856029_856030delinsA | CA2695227822 | ELANE | c.669_670delinsA (p.Cys223Ter) | |
19 | g.856030G>A | CA402919096 | ELANE | c.670G>A (p.Ala224Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.856030G>C | CA402919097 | ELANE | c.670G>C (p.Ala224Pro) | |
19 | g.856030G= | CA2317361640 | ELANE | c.670G= (p.Ala224=) | |
19 | g.856030G>T | CA402919098 | ELANE | c.670G>T (p.Ala224Ser) | |
19 | g.856031C>A | CA402919101 | ELANE | c.671C>A (p.Ala224Asp) | gnomAD v4 |