Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.855761T>A | CA504882014 | ELANE | c.564T>A (p.Thr188=) | |
19 | g.855761T>C | CA504882016 | ELANE | c.564T>C (p.Thr188=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.855761T>G | CA504882017 | ELANE | c.564T>G (p.Thr188=) | |
19 | g.855761T= | CA2317361459 | ELANE | c.564T= (p.Thr188=) | |
19 | g.855762C>A | CA9026092 | ELANE | c.565C>A (p.Leu189Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855762C= | CA2317361460 | ELANE | c.565C= (p.Leu189=) | |
19 | g.855762C>G | CA402918703 | ELANE | c.565C>G (p.Leu189Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.855762C>T | CA9026091 | ELANE | c.565C>T (p.Leu189Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855763T>A | CA402918706 | ELANE | c.566T>A (p.Leu189His) | |
19 | g.855763T>C | CA402918708 | ELANE | c.566T>C (p.Leu189Pro) | |
19 | g.855763T>G | CA402918709 | ELANE | c.566T>G (p.Leu189Arg) | |
19 | g.855763dup | CA2740091833 | ELANE | c.566dup (p.Val190ArgfsTer?) | ClinVar |
19 | g.855764C>A | CA9026094 | ELANE | c.567C>A (p.Leu189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855764C= | CA2317361461 | ELANE | c.567C= (p.Leu189=) | |
19 | g.855764C>G | CA504882019 | ELANE | c.567C>G (p.Leu189=) | ClinVar dbSNP |
19 | g.855764C>T | CA9026093 | ELANE | c.567C>T (p.Leu189=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855765G>A | CA10583963 | ELANE | c.568G>A (p.Val190Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855765G>C | CA9026095 | ELANE | c.568G>C (p.Val190Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855765G= | CA2317361462 | ELANE | c.568G= (p.Val190=) | |
19 | g.855765G>T | CA402918715 | ELANE | c.568G>T (p.Val190Leu) | gnomAD v4 |
19 | g.855766T>A | CA402918717 | ELANE | c.569T>A (p.Val190Glu) | |
19 | g.855766T>C | CA402918720 | ELANE | c.569T>C (p.Val190Ala) | |
19 | g.855766T>G | CA402918718 | ELANE | c.569T>G (p.Val190Gly) | ClinVar dbSNP gnomAD v4 |
19 | g.855766T= | CA2317361463 | ELANE | c.569T= (p.Val190=) | |
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 |