Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.853247_853276del | CA2576540464 | ELANE | c.225-15_239del | |
19 | g.853259_853275del | CA2587805068 | ELANE | c.225-3_238del | gnomAD v4 |
19 | g.853268_853276del | CA2695227784 | ELANE | c.231_239del (p.Arg78_Val80del) | |
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 |
19 | g.853271C>T | CA504684837 | ELANE | c.234C>T (p.Arg78=) | gnomAD v4 |
19 | g.853271_853273del | CA920034574 | ELANE | c.234_236del (p.Ala79del) | dbSNP |
19 | g.853272G>A | CA402915129 | ELANE | c.235G>A (p.Ala79Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853272G>C | CA402915130 | ELANE | c.235G>C (p.Ala79Pro) | ClinVar dbSNP |
19 | g.853272G= | CA2317360074 | ELANE | c.235G= (p.Ala79=) | |
19 | g.853272G>T | CA9025981 | ELANE | c.235G>T (p.Ala79Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853276_853280dup | CA2587805073 | ELANE | c.239_243dup (p.Val82CysfsTer?) | gnomAD v4 |
19 | g.853276_853280del | CA2587805074 | ELANE | c.239_243del (p.Val80GlyfsTer7) | gnomAD v4 |
19 | g.853273C>A | CA402915139 | ELANE | c.236C>A (p.Ala79Glu) | gnomAD v4 |
19 | g.853273C= | CA2317360077 | ELANE | c.236C= (p.Ala79=) | |
19 | g.853273C>G | CA402915136 | ELANE | c.236C>G (p.Ala79Gly) | |
19 | g.853273C>T | CA9025982 | ELANE | c.236C>T (p.Ala79Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853274G>A | CA504684841 | ELANE | c.237G>A (p.Ala79=) | gnomAD v4 |
19 | g.853274G>C | CA504684842 | ELANE | c.237G>C (p.Ala79=) | |
19 | g.853274G= | CA2317360079 | ELANE | c.237G= (p.Ala79=) | |
19 | g.853274G>T | CA504684843 | ELANE | c.237G>T (p.Ala79=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853278_853283del | CA2695227785 | ELANE | c.241_246del (p.Arg81_Val82del) | |
19 | g.853275G>A | CA402915142 | ELANE | c.238G>A (p.Val80Met) | gnomAD v4 |
19 | g.853275G>C | CA402915145 | ELANE | c.238G>C (p.Val80Leu) | |
19 | g.853275G>T | CA402915148 | ELANE | c.238G>T (p.Val80Leu) | |
19 | g.853276T>A | CA402915150 | ELANE | c.239T>A (p.Val80Glu) | |
19 | g.853276T>C | CA402915153 | ELANE | c.239T>C (p.Val80Ala) | ClinVar dbSNP |
19 | g.853276T>G | CA402915156 | ELANE | c.239T>G (p.Val80Gly) | |
19 | g.853277G>A | CA504684845 | ELANE | c.240G>A (p.Val80=) | |
19 | g.853277G>C | CA504684846 | ELANE | c.240G>C (p.Val80=) | |
19 | g.853277G>T | CA504684844 | ELANE | c.240G>T (p.Val80=) | |
19 | g.853278C>A | CA504684847 | ELANE | c.241C>A (p.Arg81=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.853278C= | CA2317360080 | ELANE | c.241C= (p.Arg81=) | |
19 | g.853278C>G | CA402915157 | ELANE | c.241C>G (p.Arg81Gly) | |
19 | g.853278C>T | CA402915159 | ELANE | c.241C>T (p.Arg81Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.853279G>A | CA402915161 | ELANE | c.242G>A (p.Arg81Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.853279G>C | CA402915163 | ELANE | c.242G>C (p.Arg81Pro) | ClinVar dbSNP |
19 | g.853279G= | CA2317360083 | ELANE | c.242G= (p.Arg81=) | |
19 | g.853279G>T | CA9025983 | ELANE | c.242G>T (p.Arg81Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853280G>A | CA504684849 | ELANE | c.243G>A (p.Arg81=) | ClinVar gnomAD v4 |
19 | g.853280G>C | CA504684848 | ELANE | c.243G>C (p.Arg81=) | |
19 | g.853280G= | CA2317360085 | ELANE | c.243G= (p.Arg81=) | |
19 | g.853280G>T | CA9025984 | ELANE | c.243G>T (p.Arg81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |