Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.855776_855786del | CA884315422 | ELANE | c.579_589del (p.Gln194LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.855778_855794dup | CA2580096965 | ELANE | c.581_597dup (p.Gly200ArgfsTer18) | ClinVar |
19 | g.855781_855785dup | CA2695227802 | ELANE | c.584_588dup (p.Val197ProfsTer17) | |
19 | g.855783G>A | CA9026102 | ELANE | c.586G>A (p.Gly196Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.855783G>C | CA402918763 | ELANE | c.586G>C (p.Gly196Arg) | |
19 | g.855783G= | CA2317361476 | ELANE | c.586G= (p.Gly196=) | |
19 | g.855783G>T | CA402918765 | ELANE | c.586G>T (p.Gly196Cys) | gnomAD v4 |
19 | g.855784del | CA2695227803 | ELANE | c.587del (p.Gly196AlafsTer16) | |
19 | g.855784G>A | CA303945024 | ELANE | c.587G>A (p.Gly196Asp) | dbSNP |
19 | g.855784G>C | CA402918767 | ELANE | c.587G>C (p.Gly196Ala) | |
19 | g.855784G= | CA2317361477 | ELANE | c.587G= (p.Gly196=) | |
19 | g.855784G>T | CA402918768 | ELANE | c.587G>T (p.Gly196Val) | |
19 | g.855785_855786dup | CA2695227804 | ELANE | c.588_589dup (p.Val197AlafsTer16) | |
19 | g.855785C>A | CA504882054 | ELANE | c.588C>A (p.Gly196=) | |
19 | g.855785C= | CA2317361478 | ELANE | c.588C= (p.Gly196=) | |
19 | g.855785C>G | CA504882055 | ELANE | c.588C>G (p.Gly196=) | |
19 | g.855785C>T | CA303945036 | ELANE | c.588C>T (p.Gly196=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855786G>A | CA402918770 | ELANE | c.589G>A (p.Val197Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855786G>C | CA402918771 | ELANE | c.589G>C (p.Val197Leu) | |
19 | g.855786G= | CA2317361479 | ELANE | c.589G= (p.Val197=) | |
19 | g.855786G>T | CA402918773 | ELANE | c.589G>T (p.Val197Phe) | gnomAD v4 |
19 | g.855786_855793dup | CA2695227805 | ELANE | c.589_596dup (p.Phe199LeufsTer16) | |
19 | g.855787T>A | CA402918778 | ELANE | c.590T>A (p.Val197Asp) | |
19 | g.855787T>C | CA402918774 | ELANE | c.590T>C (p.Val197Ala) | |
19 | g.855787T>G | CA402918776 | ELANE | c.590T>G (p.Val197Gly) | |
19 | g.855787_855788insTTTTT | CA2695227806 | ELANE | c.590_591insTTTTT (p.Cys198PhefsTer16) | |
19 | g.855788C>A | CA303945045 | ELANE | c.591C>A (p.Val197=) | dbSNP gnomAD v4 |
19 | g.855788C= | CA2317361480 | ELANE | c.591C= (p.Val197=) | |
19 | g.855788C>G | CA504882057 | ELANE | c.591C>G (p.Val197=) | |
19 | g.855788C>T | CA504882059 | ELANE | c.591C>T (p.Val197=) | |
19 | g.855789T>A | CA402918780 | ELANE | c.592T>A (p.Cys198Ser) | |
19 | g.855789T>C | CA402918781 | ELANE | c.592T>C (p.Cys198Arg) | |
19 | g.855789T>G | CA402918783 | ELANE | c.592T>G (p.Cys198Gly) | |
19 | g.855790del | CA915940660 | ELANE | c.593del (p.Cys198PhefsTer14) | |
19 | g.855790G>A | CA402918785 | ELANE | c.593G>A (p.Cys198Tyr) | |
19 | g.855790G>C | CA402918787 | ELANE | c.593G>C (p.Cys198Ser) | |
19 | g.855790G>T | CA402918789 | ELANE | c.593G>T (p.Cys198Phe) | |
19 | g.855791T>A | CA402918790 | ELANE | c.594T>A (p.Cys198Ter) | |
19 | g.855791T>C | CA504882064 | ELANE | c.594T>C (p.Cys198=) | dbSNP gnomAD v2 |
19 | g.855791T>G | CA402918792 | ELANE | c.594T>G (p.Cys198Trp) | |
19 | g.855791T= | CA2317361481 | ELANE | c.594T= (p.Cys198=) | |
19 | g.855793del | CA2695227807 | ELANE | c.596del (p.Phe199SerfsTer13) | |
19 | g.855792T>A | CA402918794 | ELANE | c.595T>A (p.Phe199Ile) | |
19 | g.855792T>C | CA402918796 | ELANE | c.595T>C (p.Phe199Leu) | |
19 | g.855792T>G | CA402918798 | ELANE | c.595T>G (p.Phe199Val) | |
19 | g.855793T>A | CA402918802 | ELANE | c.596T>A (p.Phe199Tyr) | COSMIC |