Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.855549T>C | CA657480007 | ELANE | c.367-15T>C (n.367-15T>C) | dbSNP COSMIC |
19 | g.855549T= | CA2317361330 | ELANE | c.367-15T= (n.367-15T=) | |
19 | g.855551C= | CA2317361331 | ELANE | c.367-13C= (n.367-13C=) | |
19 | g.855551C>T | CA631295188 | ELANE | c.367-13C>T (n.367-13C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855552C>A | CA884314837 | ELANE | c.367-12C>A (n.367-12C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.855552C= | CA2317361332 | ELANE | c.367-12C= (n.367-12C=) | |
19 | g.855552C>T | CA2580096962 | ELANE | c.367-12C>T (n.367-12C>T) | ClinVar dbSNP gnomAD v4 |
19 | g.855553C>T | CA2573155743 | ELANE | c.367-11C>T (n.367-11C>T) | ClinVar dbSNP |
19 | g.855554_855555dup | CA9026034 | ELANE | c.367-10_367-9dup (n.367-10_367-9dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855554A= | CA2317361333 | ELANE | c.367-10A= (n.367-10A=) | |
19 | g.855554A>C | CA2317361334 | ELANE | c.367-10A>C (n.367-10A>C) | dbSNP |
19 | g.855554A>G | CA2587805306 | ELANE | c.367-10A>G (n.367-10A>G) | gnomAD v4 |
19 | g.855555C>T | CA2587805307 | ELANE | c.367-9C>T (n.367-9C>T) | gnomAD v4 |
19 | g.855556C>A | CA501167 | ELANE | c.367-8C>A (n.367-8C>A) | ClinVar dbSNP gnomAD v4 |
19 | g.855556C= | CA2317361335 | ELANE | c.367-8C= (n.367-8C=) | |
19 | g.855556C>G | CA631295189 | ELANE | c.367-8C>G (n.367-8C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.855556C>T | CA9026035 | ELANE | c.367-8C>T (n.367-8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.855557G>A | CA9026036 | ELANE | c.367-7G>A (n.367-7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855557G= | CA2317361336 | ELANE | c.367-7G= (n.367-7G=) | |
19 | g.855557G>T | CA2576540507 | ELANE | c.367-7G>T (n.367-7G>T) | gnomAD v4 |
19 | g.855559C>A | CA2587805308 | ELANE | c.367-5C>A (n.367-5C>A) | gnomAD v4 |
19 | g.855560A>G | CA2519541806 | ELANE | c.367-4A>G (n.367-4A>G) | |
19 | g.855561C= | CA2317361337 | ELANE | c.367-3C= (n.367-3C=) | |
19 | g.855561C>T | CA303944666 | ELANE | c.367-3C>T (n.367-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855562A>C | CA402917673 | ELANE | c.367-2A>C (n.367-2A>C) | |
19 | g.855562A>G | CA402917677 | ELANE | c.367-2A>G (n.367-2A>G) | gnomAD v4 |
19 | g.855562A>T | CA402917674 | ELANE | c.367-2A>T (n.367-2A>T) | |
19 | g.855563G>A | CA402917680 | ELANE | c.367-1G>A (n.367-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.855563G>C | CA402917683 | ELANE | c.367-1G>C (n.367-1G>C) | ClinVar dbSNP |
19 | g.855563G= | CA2317361338 | ELANE | c.367-1G= (n.367-1G=) | |
19 | g.855563G>T | CA402917682 | ELANE | c.367-1G>T (n.367-1G>T) | gnomAD v4 |
19 | g.855564C>A | CA402917687 | ELANE | c.367C>A (p.Leu123Ile) | gnomAD v4 |
19 | g.855564C= | CA2317361339 | ELANE | c.367C= (p.Leu123=) | |
19 | g.855564C>G | CA402917690 | ELANE | c.367C>G (p.Leu123Val) | ClinVar dbSNP |
19 | g.855564C>T | CA402917692 | ELANE | c.367C>T (p.Leu123Phe) | gnomAD v4 |
19 | g.855565T>A | CA402917696 | ELANE | c.368T>A (p.Leu123His) | |
19 | g.855565T>C | CA402917698 | ELANE | c.368T>C (p.Leu123Pro) | ClinVar dbSNP |
19 | g.855565T>G | CA402917700 | ELANE | c.368T>G (p.Leu123Arg) | |
19 | g.855566C>A | CA504881741 | ELANE | c.369C>A (p.Leu123=) | |
19 | g.855566C= | CA2317361340 | ELANE | c.369C= (p.Leu123=) | |
19 | g.855566C>G | CA504881742 | ELANE | c.369C>G (p.Leu123=) | dbSNP |
19 | g.855566C>T | CA504881743 | ELANE | c.369C>T (p.Leu123=) | |
19 | g.855567A= | CA2317361341 | ELANE | c.370A= (p.Asn124=) | |
19 | g.855567A>C | CA402917703 | ELANE | c.370A>C (p.Asn124His) | gnomAD v4 |
19 | g.855567A>G | CA9026037 | ELANE | c.370A>G (p.Asn124Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.855567A>T | CA402917706 | ELANE | c.370A>T (p.Asn124Tyr) | |
19 | g.855568A>C | CA402917710 | ELANE | c.371A>C (p.Asn124Thr) | |
19 | g.855568A>G | CA402917712 | ELANE | c.371A>G (p.Asn124Ser) | |
19 | g.855568A>T | CA402917713 | ELANE | c.371A>T (p.Asn124Ile) | |
19 | g.855569C>A | CA402917721 | ELANE | c.372C>A (p.Asn124Lys) | ClinVar dbSNP gnomAD v4 |