| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.852919G>A | CA504684668 | ELANE | c.111G>A (p.Arg37=) | gnomAD v4 |
| 19 | g.852919G>C | CA504684669 | ELANE | c.111G>C (p.Arg37=) | |
| 19 | g.852919G>T | CA504684670 | ELANE | c.111G>T (p.Arg37=) | gnomAD v4 |
| 19 | g.852920C>A | CA402914413 | ELANE | c.112C>A (p.Pro38Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.852920C= | CA2317360108 | ELANE | c.112C= (p.Pro38=) | |
| 19 | g.852920C>G | CA402914415 | ELANE | c.112C>G (p.Pro38Ala) | |
| 19 | g.852920C>T | CA402914417 | ELANE | c.112C>T (p.Pro38Ser) | gnomAD v4 |
| 19 | g.852921C>A | CA402914419 | ELANE | c.113C>A (p.Pro38His) | |
| 19 | g.852921C= | CA2317360109 | ELANE | c.113C= (p.Pro38=) | |
| 19 | g.852921C>G | CA402914421 | ELANE | c.113C>G (p.Pro38Arg) | |
| 19 | g.852921C>T | CA303942767 | ELANE | c.113C>T (p.Pro38Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.852922C>A | CA504684676 | ELANE | c.114C>A (p.Pro38=) | gnomAD v4 |
| 19 | g.852922C= | CA2317360110 | ELANE | c.114C= (p.Pro38=) | |
| 19 | g.852922C>G | CA504684677 | ELANE | c.114C>G (p.Pro38=) | |
| 19 | g.852922C>T | CA303942769 | ELANE | c.114C>T (p.Pro38=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.852923C>A | CA402914428 | ELANE | c.115C>A (p.His39Asn) | |
| 19 | g.852923C>G | CA402914427 | ELANE | c.115C>G (p.His39Asp) | |
| 19 | g.852923C>T | CA402914425 | ELANE | c.115C>T (p.His39Tyr) | gnomAD v4 |
| 19 | g.852924A>C | CA402914432 | ELANE | c.116A>C (p.His39Pro) | |
| 19 | g.852924A>G | CA402914431 | ELANE | c.116A>G (p.His39Arg) | gnomAD v4 |
| 19 | g.852924A>T | CA402914434 | ELANE | c.116A>T (p.His39Leu) | |
| 19 | g.852925C>A | CA9025938 | ELANE | c.117C>A (p.His39Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.852925C= | CA2317360111 | ELANE | c.117C= (p.His39=) | |
| 19 | g.852925C>G | CA402914435 | ELANE | c.117C>G (p.His39Gln) | ClinVar |
| 19 | g.852925C>T | CA504684679 | ELANE | c.117C>T (p.His39=) | dbSNP gnomAD v4 COSMIC |
| 19 | g.852926G>A | CA303942780 | ELANE | c.118G>A (p.Ala40Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.852926G>C | CA402914437 | ELANE | c.118G>C (p.Ala40Pro) | gnomAD v4 |
| 19 | g.852926G= | CA2317360112 | ELANE | c.118G= (p.Ala40=) | |
| 19 | g.852926G>T | CA402914439 | ELANE | c.118G>T (p.Ala40Ser) | gnomAD v4 |
| 19 | g.852927C>A | CA402914444 | ELANE | c.119C>A (p.Ala40Glu) | gnomAD v4 |
| 19 | g.852927C= | CA2317360113 | ELANE | c.119C= (p.Ala40=) | |
| 19 | g.852927C>G | CA402914443 | ELANE | c.119C>G (p.Ala40Gly) | |
| 19 | g.852927C>T | CA402914441 | ELANE | c.119C>T (p.Ala40Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.852928G>A | CA504684683 | ELANE | c.120G>A (p.Ala40=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.852928G>C | CA504684686 | ELANE | c.120G>C (p.Ala40=) | gnomAD v4 |
| 19 | g.852928G= | CA2317360114 | ELANE | c.120G= (p.Ala40=) | |
| 19 | g.852928G>T | CA504684684 | ELANE | c.120G>T (p.Ala40=) | gnomAD v4 |
| 19 | g.852929T>A | CA402914446 | ELANE | c.121T>A (p.Trp41Arg) | |
| 19 | g.852929T>C | CA402914448 | ELANE | c.121T>C (p.Trp41Arg) | |
| 19 | g.852929T>G | CA402914450 | ELANE | c.121T>G (p.Trp41Gly) | |
| 19 | g.852930G>A | CA402914451 | ELANE | c.122G>A (p.Trp41Ter) | |
| 19 | g.852930G>C | CA402914453 | ELANE | c.122G>C (p.Trp41Ser) | |
| 19 | g.852930G>T | CA402914459 | ELANE | c.122G>T (p.Trp41Leu) | gnomAD v4 |
| 19 | g.852931G>A | CA402914463 | ELANE | c.123G>A (p.Trp41Ter) | gnomAD v4 |
| 19 | g.852931G>C | CA402914468 | ELANE | c.123G>C (p.Trp41Cys) | |
| 19 | g.852931G>T | CA402914465 | ELANE | c.123G>T (p.Trp41Cys) | gnomAD v4 |
| 19 | g.852931_852932insA | CA2740091830 | ELANE | c.123_124insA (p.Pro42ThrfsTer?) | ClinVar |
| 19 | g.852932C>A | CA402914470 | ELANE | c.124C>A (p.Pro42Thr) | |
| 19 | g.852932C= | CA2317360115 | ELANE | c.124C= (p.Pro42=) | |
| 19 | g.852932C>G | CA402914471 | ELANE | c.124C>G (p.Pro42Ala) |