| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.855961_855968dup | CA2695227812 | ELANE | c.601_608dup (p.Ser204ThrfsTer11) | |
| 19 | g.855962_855968del | CA2695227813 | ELANE | c.602_608del (p.Asp201AlafsTer9) | |
| 19 | g.855965C>A | CA402918872 | ELANE | c.605C>A (p.Ser202Tyr) | |
| 19 | g.855965C= | CA2317361602 | ELANE | c.605C= (p.Ser202=) | |
| 19 | g.855965C>G | CA402918873 | ELANE | c.605C>G (p.Ser202Cys) | |
| 19 | g.855965C>T | CA10583965 | ELANE | c.605C>T (p.Ser202Phe) | ClinVar dbSNP gnomAD v4 |
| 19 | g.855966C>A | CA290722 | ELANE | c.606C>A (p.Ser202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855966C= | CA2317361603 | ELANE | c.606C= (p.Ser202=) | |
| 19 | g.855966C>G | CA504686320 | ELANE | c.606C>G (p.Ser202=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.855966C>T | CA290725 | ELANE | c.606C>T (p.Ser202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855967G>A | CA303945234 | ELANE | c.607G>A (p.Gly203Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855967G>C | CA402918877 | ELANE | c.607G>C (p.Gly203Arg) | ClinVar dbSNP |
| 19 | g.855967G= | CA2317361604 | ELANE | c.607G= (p.Gly203=) | |
| 19 | g.855967G>T | CA402918878 | ELANE | c.607G>T (p.Gly203Cys) | ClinVar dbSNP |
| 19 | g.855968G>A | CA402918879 | ELANE | c.608G>A (p.Gly203Asp) | |
| 19 | g.855968G>C | CA402918881 | ELANE | c.608G>C (p.Gly203Ala) | |
| 19 | g.855968G>T | CA402918883 | ELANE | c.608G>T (p.Gly203Val) | |
| 19 | g.855969C>A | CA504686342 | ELANE | c.609C>A (p.Gly203=) | |
| 19 | g.855969C>G | CA504686340 | ELANE | c.609C>G (p.Gly203=) | |
| 19 | g.855969C>T | CA504686337 | ELANE | c.609C>T (p.Gly203=) | |
| 19 | g.855970A>C | CA402918885 | ELANE | c.610A>C (p.Ser204Arg) | |
| 19 | g.855970A>G | CA402918887 | ELANE | c.610A>G (p.Ser204Gly) | gnomAD v4 |
| 19 | g.855970A>T | CA402918884 | ELANE | c.610A>T (p.Ser204Cys) | |
| 19 | g.855971G>A | CA402918889 | ELANE | c.611G>A (p.Ser204Asn) | COSMIC |
| 19 | g.855971G>C | CA402918890 | ELANE | c.611G>C (p.Ser204Thr) | |
| 19 | g.855971G>T | CA402918892 | ELANE | c.611G>T (p.Ser204Ile) | |
| 19 | g.855972C>A | CA402918894 | ELANE | c.612C>A (p.Ser204Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.855972C= | CA2317361605 | ELANE | c.612C= (p.Ser204=) | |
| 19 | g.855972C>G | CA402918896 | ELANE | c.612C>G (p.Ser204Arg) | |
| 19 | g.855972C>T | CA9026121 | ELANE | c.612C>T (p.Ser204=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.855975del | CA2695227814 | ELANE | c.615del (p.Leu206TrpfsTer6) | |
| 19 | g.855973C>A | CA402918897 | ELANE | c.613C>A (p.Pro205Thr) | |
| 19 | g.855973C= | CA2317361606 | ELANE | c.613C= (p.Pro205=) | |
| 19 | g.855973C>G | CA402918901 | ELANE | c.613C>G (p.Pro205Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.855973C>T | CA402918898 | ELANE | c.613C>T (p.Pro205Ser) | |
| 19 | g.855974C>A | CA402918903 | ELANE | c.614C>A (p.Pro205His) | |
| 19 | g.855974C= | CA2317361607 | ELANE | c.614C= (p.Pro205=) | |
| 19 | g.855974C>G | CA402918904 | ELANE | c.614C>G (p.Pro205Arg) | ClinVar dbSNP |
| 19 | g.855974C>T | CA402918906 | ELANE | c.614C>T (p.Pro205Leu) | |
| 19 | g.855975C>A | CA504686369 | ELANE | c.615C>A (p.Pro205=) | |
| 19 | g.855975C>G | CA504686371 | ELANE | c.615C>G (p.Pro205=) | |
| 19 | g.855975C>T | CA504686372 | ELANE | c.615C>T (p.Pro205=) | gnomAD v4 |
| 19 | g.855975_855978del | CA2695227815 | ELANE | c.615_618del (p.Leu206SerfsTer5) | |
| 19 | g.855976T>A | CA402918908 | ELANE | c.616T>A (p.Leu206Met) | |
| 19 | g.855976T>C | CA504686378 | ELANE | c.616T>C (p.Leu206=) | gnomAD v4 |
| 19 | g.855976T>G | CA402918910 | ELANE | c.616T>G (p.Leu206Val) | |
| 19 | g.855977T>A | CA402918914 | ELANE | c.617T>A (p.Leu206Ter) | |
| 19 | g.855977T>C | CA402918915 | ELANE | c.617T>C (p.Leu206Ser) | |
| 19 | g.855977T>G | CA402918912 | ELANE | c.617T>G (p.Leu206Trp) | |
| 19 | g.855978G>A | CA504686387 | ELANE | c.618G>A (p.Leu206=) | ClinVar |