Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.855767G>A | CA504882020 | ELANE | c.570G>A (p.Val190=) | ClinVar |
19 | g.855767G>C | CA504882021 | ELANE | c.570G>C (p.Val190=) | |
19 | g.855767G>T | CA504882022 | ELANE | c.570G>T (p.Val190=) | |
19 | g.855768A>C | CA504882023 | ELANE | c.571A>C (p.Arg191=) | |
19 | g.855768A>G | CA402918721 | ELANE | c.571A>G (p.Arg191Gly) | |
19 | g.855768A>T | CA402918723 | ELANE | c.571A>T (p.Arg191Trp) | |
19 | g.855768dup | CA2587805320 | ELANE | c.571dup (p.Arg191LysfsTer?) | gnomAD v4 |
19 | g.855771_855780del | CA2573054849 | ELANE | c.574_583del (p.Gly192ProfsTer17) | ClinVar dbSNP |
19 | g.855769G>A | CA402918725 | ELANE | c.572G>A (p.Arg191Lys) | |
19 | g.855769G>C | CA402918727 | ELANE | c.572G>C (p.Arg191Thr) | |
19 | g.855769G>T | CA402918729 | ELANE | c.572G>T (p.Arg191Met) | |
19 | g.855770G>A | CA504882026 | ELANE | c.573G>A (p.Arg191=) | COSMIC |
19 | g.855770G>C | CA9026096 | ELANE | c.573G>C (p.Arg191Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855770G= | CA2317361464 | ELANE | c.573G= (p.Arg191=) | |
19 | g.855770G>T | CA402918731 | ELANE | c.573G>T (p.Arg191Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.855771G>A | CA402918733 | ELANE | c.574G>A (p.Gly192Ser) | gnomAD v4 |
19 | g.855771G>C | CA402918734 | ELANE | c.574G>C (p.Gly192Arg) | dbSNP |
19 | g.855771G= | CA2317361465 | ELANE | c.574G= (p.Gly192=) | |
19 | g.855771G>T | CA402918736 | ELANE | c.574G>T (p.Gly192Cys) | |
19 | g.855778_855785dup | CA2695227797 | ELANE | c.581_588dup (p.Val197ArgfsTer18) | |
19 | g.855772_855786del | CA2695227798 | ELANE | c.575_589del (p.Gly192_Gly196del) | |
19 | g.855772G>A | CA303944963 | ELANE | c.575G>A (p.Gly192Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.855772G>C | CA402918739 | ELANE | c.575G>C (p.Gly192Ala) | gnomAD v4 |
19 | g.855772G= | CA2317361466 | ELANE | c.575G= (p.Gly192=) | |
19 | g.855772G>T | CA402918740 | ELANE | c.575G>T (p.Gly192Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.855773C>A | CA303944972 | ELANE | c.576C>A (p.Gly192=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855773C= | CA2317361467 | ELANE | c.576C= (p.Gly192=) | |
19 | g.855773C>G | CA504882032 | ELANE | c.576C>G (p.Gly192=) | |
19 | g.855773C>T | CA504882030 | ELANE | c.576C>T (p.Gly192=) | gnomAD v4 |
19 | g.855773_855784delinsCCGGCAGGCCGG | CA2317361468 | ELANE | c.576_587delinsCCGGCAGGCCGG (p.Gly192=) | |
19 | g.855774_855788del | CA2587805321 | ELANE | c.577_591del (p.Arg193_Val197del) | gnomAD v4 |
19 | g.855774C>A | CA504882033 | ELANE | c.577C>A (p.Arg193=) | |
19 | g.855774C= | CA2317361469 | ELANE | c.577C= (p.Arg193=) | |
19 | g.855774C>G | CA402918742 | ELANE | c.577C>G (p.Arg193Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.855774C>T | CA303944983 | ELANE | c.577C>T (p.Arg193Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.855775_855781del | CA2695227799 | ELANE | c.578_584del (p.Arg193ProfsTer17) | |
19 | g.855776_855786del | CA884315422 | ELANE | c.579_589del (p.Gln194LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.855775G>A | CA9026097 | ELANE | c.578G>A (p.Arg193Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.855775G>C | CA402918745 | ELANE | c.578G>C (p.Arg193Pro) | |
19 | g.855775G= | CA2317361470 | ELANE | c.578G= (p.Arg193=) | |
19 | g.855775G>T | CA402918747 | ELANE | c.578G>T (p.Arg193Leu) | gnomAD v4 COSMIC |
19 | g.855776G>A | CA504882035 | ELANE | c.579G>A (p.Arg193=) | gnomAD v4 |
19 | g.855776G>C | CA504882036 | ELANE | c.579G>C (p.Arg193=) | |
19 | g.855776G>T | CA504882037 | ELANE | c.579G>T (p.Arg193=) | gnomAD v4 |
19 | g.855777C>A | CA402918749 | ELANE | c.580C>A (p.Gln194Lys) | gnomAD v4 |
19 | g.855777C>G | CA402918750 | ELANE | c.580C>G (p.Gln194Glu) | |
19 | g.855777C>T | CA402918751 | ELANE | c.580C>T (p.Gln194Ter) | |
19 | g.855778_855794dup | CA2580096965 | ELANE | c.581_597dup (p.Gly200ArgfsTer18) | ClinVar |
19 | g.855778A= | CA2317361471 | ELANE | c.581A= (p.Gln194=) | |
19 | g.855778A>C | CA9026098 | ELANE | c.581A>C (p.Gln194Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |