| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.853247_853276del | CA2576540464 | ELANE | c.225-15_239del | |
| 19 | g.853252_853269dup | CA2580096958 | ELANE | c.225-10_232dup | ClinVar |
| 19 | g.853259_853275del | CA2587805068 | ELANE | c.225-3_238del | gnomAD v4 |
| 19 | g.853257_853263dup | CA2587805069 | ELANE | c.225-5_226dup | gnomAD v4 |
| 19 | g.853260A>C | CA402915078 | ELANE | c.225-2A>C (n.225-2A>C) | |
| 19 | g.853260A>G | CA402915080 | ELANE | c.225-2A>G (n.225-2A>G) | |
| 19 | g.853260A>T | CA402915083 | ELANE | c.225-2A>T (n.225-2A>T) | |
| 19 | g.853261G>A | CA402915086 | ELANE | c.225-1G>A (n.225-1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.853261G>C | CA402915088 | ELANE | c.225-1G>C (n.225-1G>C) | |
| 19 | g.853261G= | CA2317360056 | ELANE | c.225-1G= (n.225-1G=) | |
| 19 | g.853261G>T | CA402915091 | ELANE | c.225-1G>T (n.225-1G>T) | |
| 19 | g.853262A>C | CA504684830 | ELANE | c.225A>C (p.Val75=) | |
| 19 | g.853262A>G | CA504684831 | ELANE | c.225A>G (p.Val75=) | gnomAD v4 |
| 19 | g.853262A>T | CA504684829 | ELANE | c.225A>T (p.Val75=) | |
| 19 | g.853263A>C | CA402915093 | ELANE | c.226A>C (p.Asn76His) | |
| 19 | g.853263A>G | CA402915094 | ELANE | c.226A>G (p.Asn76Asp) | |
| 19 | g.853263A>T | CA402915095 | ELANE | c.226A>T (p.Asn76Tyr) | |
| 19 | g.853264A>C | CA402915096 | ELANE | c.227A>C (p.Asn76Thr) | |
| 19 | g.853264A>G | CA402915097 | ELANE | c.227A>G (p.Asn76Ser) | |
| 19 | g.853264A>T | CA402915098 | ELANE | c.227A>T (p.Asn76Ile) | |
| 19 | g.853265C>A | CA402915100 | ELANE | c.228C>A (p.Asn76Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.853265C= | CA2317360058 | ELANE | c.228C= (p.Asn76=) | |
| 19 | g.853265C>G | CA9025978 | ELANE | c.228C>G (p.Asn76Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.853265C>T | CA9025977 | ELANE | c.228C>T (p.Asn76=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.853266G>A | CA402915106 | ELANE | c.229G>A (p.Val77Ile) | ClinVar |
| 19 | g.853266G>C | CA402915104 | ELANE | c.229G>C (p.Val77Leu) | gnomAD v4 |
| 19 | g.853266G>T | CA402915108 | ELANE | c.229G>T (p.Val77Phe) | gnomAD v4 |
| 19 | g.853266dup | CA920034573 | ELANE | c.229dup (p.Val77GlyfsTer12) | dbSNP |
| 19 | g.853268_853276del | CA2695227784 | ELANE | c.231_239del (p.Arg78_Val80del) | |
| 19 | g.853267del | CA2587805072 | ELANE | c.230del (p.Val77AlafsTer?) | gnomAD v4 |
| 19 | g.853267T>A | CA402915112 | ELANE | c.230T>A (p.Val77Asp) | |
| 19 | g.853267T>C | CA402915114 | ELANE | c.230T>C (p.Val77Ala) | |
| 19 | g.853267T>G | CA402915117 | ELANE | c.230T>G (p.Val77Gly) | |
| 19 | g.853268C>A | CA504684832 | ELANE | c.231C>A (p.Val77=) | gnomAD v4 |
| 19 | g.853268C= | CA2317360062 | ELANE | c.231C= (p.Val77=) | |
| 19 | g.853268C>G | CA504684833 | ELANE | c.231C>G (p.Val77=) | dbSNP gnomAD v4 |
| 19 | g.853268C>T | CA504684834 | ELANE | c.231C>T (p.Val77=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.853269C>A | CA402915120 | ELANE | c.232C>A (p.Arg78Ser) | gnomAD v4 |
| 19 | g.853269C= | CA2317360064 | ELANE | c.232C= (p.Arg78=) | |
| 19 | g.853269C>G | CA402915121 | ELANE | c.232C>G (p.Arg78Gly) | dbSNP gnomAD v2 |
| 19 | g.853269C>T | CA402915123 | ELANE | c.232C>T (p.Arg78Cys) | gnomAD v4 |
| 19 | g.853273_853274dup | CA631295773 | ELANE | c.236_237dup (p.Val80ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.853270G>A | CA9025979 | ELANE | c.233G>A (p.Arg78His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.853270G>C | CA9025980 | ELANE | c.233G>C (p.Arg78Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.853270G= | CA2317360066 | ELANE | c.233G= (p.Arg78=) | |
| 19 | g.853270G>T | CA402915127 | ELANE | c.233G>T (p.Arg78Leu) | ClinVar gnomAD v3 gnomAD v4 |
| 19 | g.853270_853273delinsGCGC | CA2317360068 | ELANE | c.233_236delinsGCGC (p.Arg78=) | |
| 19 | g.853271C>A | CA504684835 | ELANE | c.234C>A (p.Arg78=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.853271C= | CA2317360071 | ELANE | c.234C= (p.Arg78=) | |
| 19 | g.853271C>G | CA504684836 | ELANE | c.234C>G (p.Arg78=) | dbSNP |