| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.855956_855957del | CA2695227810 | ELANE | c.598-2_598-1del (n.598-2_598-1del) | |
| 19 | g.855957G>A | CA10577118 | ELANE | c.598-1G>A (n.598-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.855957G>C | CA402918844 | ELANE | c.598-1G>C (n.598-1G>C) | |
| 19 | g.855957G= | CA2317361597 | ELANE | c.598-1G= (n.598-1G=) | |
| 19 | g.855957G>T | CA402918845 | ELANE | c.598-1G>T (n.598-1G>T) | |
| 19 | g.855960_855961dup | CA16043100 | ELANE | c.600_601dup | ClinVar dbSNP |
| 19 | g.855961del | CA2695227811 | ELANE | c.601del | |
| 19 | g.855958G>A | CA402918847 | ELANE | c.598G>A (p.Gly200Arg) | |
| 19 | g.855958G>C | CA402918848 | ELANE | c.598G>C (p.Gly200Arg) | |
| 19 | g.855958G= | CA2317361598 | ELANE | c.598G= (p.Gly200=) | |
| 19 | g.855958G>T | CA9026119 | ELANE | c.598G>T (p.Gly200Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.855959G>A | CA402918850 | ELANE | c.599G>A (p.Gly200Glu) | gnomAD v4 |
| 19 | g.855959G>C | CA402918853 | ELANE | c.599G>C (p.Gly200Ala) | |
| 19 | g.855959G>T | CA402918851 | ELANE | c.599G>T (p.Gly200Val) | |
| 19 | g.855961_855968dup | CA2695227812 | ELANE | c.601_608dup (p.Ser204ThrfsTer11) | |
| 19 | g.855960G>A | CA9026120 | ELANE | c.600G>A (p.Gly200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855960G>C | CA504686289 | ELANE | c.600G>C (p.Gly200=) | |
| 19 | g.855960G= | CA2317361599 | ELANE | c.600G= (p.Gly200=) | |
| 19 | g.855960G>T | CA504686291 | ELANE | c.600G>T (p.Gly200=) | |
| 19 | g.855960_855961delinsAA | CA645613904 | ELANE | c.600_601delinsAA (p.Asp201Asn) | COSMIC |
| 19 | g.855962_855968del | CA2695227813 | ELANE | c.602_608del (p.Asp201AlafsTer9) | |
| 19 | g.855961G>A | CA402918855 | ELANE | c.601G>A (p.Asp201Asn) | gnomAD v4 |
| 19 | g.855961G>C | CA402918857 | ELANE | c.601G>C (p.Asp201His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.855961G= | CA2317361600 | ELANE | c.601G= (p.Asp201=) | |
| 19 | g.855961G>T | CA402918858 | ELANE | c.601G>T (p.Asp201Tyr) | dbSNP gnomAD v4 |
| 19 | g.855961_855962delinsGA | CA2317361601 | ELANE | c.601_602delinsGA (p.Asp201=) | |
| 19 | g.855962del | CA1139770400 | ELANE | c.602del (p.Asp201AlafsTer11) | ClinVar dbSNP |
| 19 | g.855962A>C | CA402918859 | ELANE | c.602A>C (p.Asp201Ala) | gnomAD v4 |
| 19 | g.855962A>G | CA402918861 | ELANE | c.602A>G (p.Asp201Gly) | |
| 19 | g.855962A>T | CA402918862 | ELANE | c.602A>T (p.Asp201Val) | gnomAD v4 |
| 19 | g.855963C>A | CA402918864 | ELANE | c.603C>A (p.Asp201Glu) | |
| 19 | g.855963C>G | CA402918865 | ELANE | c.603C>G (p.Asp201Glu) | |
| 19 | g.855963C>T | CA504686306 | ELANE | c.603C>T (p.Asp201=) | |
| 19 | g.855964T>A | CA402918869 | ELANE | c.604T>A (p.Ser202Thr) | |
| 19 | g.855964T>C | CA402918871 | ELANE | c.604T>C (p.Ser202Pro) | |
| 19 | g.855964T>G | CA402918867 | ELANE | c.604T>G (p.Ser202Ala) | |
| 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) | 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) |