Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.855975_855978del | CA2695227815 | ELANE | c.615_618del (p.Leu206SerfsTer5) | |
19 | g.855978G>A | CA504686387 | ELANE | c.618G>A (p.Leu206=) | ClinVar |
19 | g.855978G>C | CA402918918 | ELANE | c.618G>C (p.Leu206Phe) | ClinVar dbSNP |
19 | g.855978G= | CA2317361608 | ELANE | c.618G= (p.Leu206=) | |
19 | g.855978G>T | CA281046 | ELANE | c.618G>T (p.Leu206Phe) | ClinVar dbSNP |
19 | g.855979G>A | CA402918920 | ELANE | c.619G>A (p.Val207Ile) | gnomAD v4 COSMIC |
19 | g.855979G>C | CA402918921 | ELANE | c.619G>C (p.Val207Leu) | ClinVar dbSNP gnomAD v4 |
19 | g.855979G= | CA2317361609 | ELANE | c.619G= (p.Val207=) | |
19 | g.855979G>T | CA402918924 | ELANE | c.619G>T (p.Val207Phe) | ClinVar dbSNP |
19 | g.855980T>A | CA402918926 | ELANE | c.620T>A (p.Val207Asp) | |
19 | g.855980T>C | CA402918927 | ELANE | c.620T>C (p.Val207Ala) | dbSNP |
19 | g.855980T>G | CA402918929 | ELANE | c.620T>G (p.Val207Gly) | |
19 | g.855981C>A | CA504686406 | ELANE | c.621C>A (p.Val207=) | |
19 | g.855981C= | CA2317361610 | ELANE | c.621C= (p.Val207=) | |
19 | g.855981C>G | CA504686408 | ELANE | c.621C>G (p.Val207=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.855981C>T | CA504686410 | ELANE | c.621C>T (p.Val207=) | gnomAD v4 |
19 | g.855982T>A | CA402918931 | ELANE | c.622T>A (p.Cys208Ser) | |
19 | g.855982T>C | CA402918932 | ELANE | c.622T>C (p.Cys208Arg) | |
19 | g.855982T>G | CA402918933 | ELANE | c.622T>G (p.Cys208Gly) | ClinVar dbSNP |
19 | g.855983G>A | CA402918935 | ELANE | c.623G>A (p.Cys208Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855983G>C | CA402918937 | ELANE | c.623G>C (p.Cys208Ser) | |
19 | g.855983G= | CA2317361611 | ELANE | c.623G= (p.Cys208=) | |
19 | g.855983G>T | CA402918939 | ELANE | c.623G>T (p.Cys208Phe) | ClinVar dbSNP |
19 | g.855984C>A | CA402918940 | ELANE | c.624C>A (p.Cys208Ter) | |
19 | g.855984C= | CA2317361612 | ELANE | c.624C= (p.Cys208=) | |
19 | g.855984C>G | CA402918941 | ELANE | c.624C>G (p.Cys208Trp) | |
19 | g.855984C>T | CA504686421 | ELANE | c.624C>T (p.Cys208=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855985A>C | CA402918942 | ELANE | c.625A>C (p.Asn209His) | |
19 | g.855985A>G | CA402918943 | ELANE | c.625A>G (p.Asn209Asp) | |
19 | g.855985A>T | CA402918945 | ELANE | c.625A>T (p.Asn209Tyr) | |
19 | g.855986A>C | CA402918947 | ELANE | c.626A>C (p.Asn209Thr) | |
19 | g.855986A>G | CA402918948 | ELANE | c.626A>G (p.Asn209Ser) | |
19 | g.855986A>T | CA402918949 | ELANE | c.626A>T (p.Asn209Ile) | COSMIC |
19 | g.855987C>A | CA402918950 | ELANE | c.627C>A (p.Asn209Lys) | dbSNP |
19 | g.855987C= | CA2317361613 | ELANE | c.627C= (p.Asn209=) | |
19 | g.855987C>G | CA303945245 | ELANE | c.627C>G (p.Asn209Lys) | dbSNP |
19 | g.855987C>T | CA9026122 | ELANE | c.627C>T (p.Asn209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855988G>A | CA9026123 | ELANE | c.628G>A (p.Gly210Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855988G>C | CA402918954 | ELANE | c.628G>C (p.Gly210Arg) | gnomAD v4 |
19 | g.855988G= | CA2317361614 | ELANE | c.628G= (p.Gly210=) | |
19 | g.855988G>T | CA402918955 | ELANE | c.628G>T (p.Gly210Trp) | |
19 | g.855989G>A | CA402918958 | ELANE | c.629G>A (p.Gly210Glu) | COSMIC |
19 | g.855989G>C | CA402918960 | ELANE | c.629G>C (p.Gly210Ala) | |
19 | g.855989G>T | CA402918957 | ELANE | c.629G>T (p.Gly210Val) | |
19 | g.855990G>A | CA504686444 | ELANE | c.630G>A (p.Gly210=) | ClinVar dbSNP |
19 | g.855990G>C | CA504686445 | ELANE | c.630G>C (p.Gly210=) | |
19 | g.855990G= | CA2317361615 | ELANE | c.630G= (p.Gly210=) | |
19 | g.855990G>T | CA504686446 | ELANE | c.630G>T (p.Gly210=) | |
19 | g.855991C>A | CA402918961 | ELANE | c.631C>A (p.Leu211Ile) | |
19 | g.855991C= | CA2317361616 | ELANE | c.631C= (p.Leu211=) |