| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.855607_855613del | CA2740091832 | ELANE | c.410_416del (p.Gln137ArgfsTer?) | ClinVar |
| 19 | g.855613C>A | CA402917943 | ELANE | c.416C>A (p.Pro139Gln) | |
| 19 | g.855613C= | CA2317361367 | ELANE | c.416C= (p.Pro139=) | |
| 19 | g.855613C>G | CA402917946 | ELANE | c.416C>G (p.Pro139Arg) | ClinVar |
| 19 | g.855613C>T | CA281050 | ELANE | c.416C>T (p.Pro139Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.855614G>A | CA9026049 | ELANE | c.417G>A (p.Pro139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855614G>C | CA9026050 | ELANE | c.417G>C (p.Pro139=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.855614G= | CA2317361368 | ELANE | c.417G= (p.Pro139=) | |
| 19 | g.855614G>T | CA504881860 | ELANE | c.417G>T (p.Pro139=) | gnomAD v4 |
| 19 | g.855615G>A | CA402917953 | ELANE | c.418G>A (p.Ala140Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.855615G>C | CA402917956 | ELANE | c.418G>C (p.Ala140Pro) | |
| 19 | g.855615G= | CA2317361369 | ELANE | c.418G= (p.Ala140=) | |
| 19 | g.855615G>T | CA9026051 | ELANE | c.418G>T (p.Ala140Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.855616C>A | CA402917959 | ELANE | c.419C>A (p.Ala140Asp) | gnomAD v4 |
| 19 | g.855616C= | CA2317361370 | ELANE | c.419C= (p.Ala140=) | |
| 19 | g.855616C>G | CA402917964 | ELANE | c.419C>G (p.Ala140Gly) | |
| 19 | g.855616C>T | CA9026052 | ELANE | c.419C>T (p.Ala140Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855617T>A | CA9026053 | ELANE | c.420T>A (p.Ala140=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.855617T>C | CA504881861 | ELANE | c.420T>C (p.Ala140=) | |
| 19 | g.855617T>G | CA504881862 | ELANE | c.420T>G (p.Ala140=) | |
| 19 | g.855617T= | CA2317361371 | ELANE | c.420T= (p.Ala140=) | |
| 19 | g.855618C>A | CA402917966 | ELANE | c.421C>A (p.Gln141Lys) | |
| 19 | g.855618C>G | CA402917969 | ELANE | c.421C>G (p.Gln141Glu) | COSMIC |
| 19 | g.855618C>T | CA402917972 | ELANE | c.421C>T (p.Gln141Ter) | gnomAD v4 |
| 19 | g.855619A= | CA2317361372 | ELANE | c.422A= (p.Gln141=) | |
| 19 | g.855619A>C | CA402917974 | ELANE | c.422A>C (p.Gln141Pro) | |
| 19 | g.855619A>G | CA402917975 | ELANE | c.422A>G (p.Gln141Arg) | dbSNP |
| 19 | g.855619A>T | CA402917977 | ELANE | c.422A>T (p.Gln141Leu) | |
| 19 | g.855620G>A | CA504881863 | ELANE | c.423G>A (p.Gln141=) | gnomAD v4 |
| 19 | g.855620G>C | CA9026054 | ELANE | c.423G>C (p.Gln141His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.855620G= | CA2317361373 | ELANE | c.423G= (p.Gln141=) | |
| 19 | g.855620G>T | CA402917981 | ELANE | c.423G>T (p.Gln141His) | gnomAD v4 |
| 19 | g.855622del | CA2587805314 | ELANE | c.425del (p.Gly142AspfsTer?) | gnomAD v4 |
| 19 | g.855621G>A | CA402917983 | ELANE | c.424G>A (p.Gly142Arg) | |
| 19 | g.855621G>C | CA402917984 | ELANE | c.424G>C (p.Gly142Arg) | |
| 19 | g.855621G>T | CA402917986 | ELANE | c.424G>T (p.Gly142Ter) | gnomAD v4 |
| 19 | g.855622G>A | CA402917988 | ELANE | c.425G>A (p.Gly142Glu) | |
| 19 | g.855622G>C | CA402917992 | ELANE | c.425G>C (p.Gly142Ala) | |
| 19 | g.855622G>T | CA402917990 | ELANE | c.425G>T (p.Gly142Val) | gnomAD v4 |
| 19 | g.855623A= | CA2317361374 | ELANE | c.426A= (p.Gly142=) | |
| 19 | g.855623A>C | CA504881865 | ELANE | c.426A>C (p.Gly142=) | |
| 19 | g.855623A>G | CA303944760 | ELANE | c.426A>G (p.Gly142=) | dbSNP |
| 19 | g.855623A>T | CA504881864 | ELANE | c.426A>T (p.Gly142=) | |
| 19 | g.855624C>A | CA402917994 | ELANE | c.427C>A (p.Arg143Ser) | |
| 19 | g.855624C= | CA2317361375 | ELANE | c.427C= (p.Arg143=) | |
| 19 | g.855624C>G | CA402917996 | ELANE | c.427C>G (p.Arg143Gly) | |
| 19 | g.855624C>T | CA9026055 | ELANE | c.427C>T (p.Arg143Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855628_855630del | CA2587805315 | ELANE | c.431_433del (p.Arg144del) | gnomAD v4 |
| 19 | g.855625G>A | CA9026056 | ELANE | c.428G>A (p.Arg143His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855625G>C | CA402918003 | ELANE | c.428G>C (p.Arg143Pro) |