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.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 |
19 | g.853281G>A | CA402915175 | ELANE | c.244G>A (p.Val82Met)
| ClinVar dbSNP |
19 | g.853281G>C | CA402915173 | ELANE | c.244G>C (p.Val82Leu)
| gnomAD v4 |
19 | g.853281G>T | CA402915170 | ELANE | c.244G>T (p.Val82Leu)
| gnomAD v4 |
19 | g.853282T>A | CA402915178 | ELANE | c.245T>A (p.Val82Glu)
| |
19 | g.853282T>C | CA402915180 | ELANE | c.245T>C (p.Val82Ala)
| gnomAD v4 |
19 | g.853282T>G | CA402915183 | ELANE | c.245T>G (p.Val82Gly)
| |
19 | g.853283G>A | CA504684851 | ELANE | c.246G>A (p.Val82=)
| gnomAD v4 |
19 | g.853283G>C | CA504684852 | ELANE | c.246G>C (p.Val82=)
| |
19 | g.853283G>T | CA504684850 | ELANE | c.246G>T (p.Val82=)
| |
19 | g.853284_853307del | CA2695227786 | ELANE | c.247_270del (p.Val83_Ser90del)
| |
19 | g.853284G>A | CA402915186 | ELANE | c.247G>A (p.Val83Ile)
| ClinVar |
19 | g.853284G>C | CA402915189 | ELANE | c.247G>C (p.Val83Leu)
| |
19 | g.853284G>T | CA402915192 | ELANE | c.247G>T (p.Val83Phe)
| |
19 | g.853285T>A | CA402915201 | ELANE | c.248T>A (p.Val83Asp)
| |
19 | g.853285T>C | CA402915195 | ELANE | c.248T>C (p.Val83Ala)
| |
19 | g.853285T>G | CA402915197 | ELANE | c.248T>G (p.Val83Gly)
| |
19 | g.853286C>A | CA504684857 | ELANE | c.249C>A (p.Val83=)
| gnomAD v4 |
19 | g.853286C= | CA2317360087 | ELANE | c.249C= (p.Val83=)
| |
19 | g.853286C>G | CA504684855 | ELANE | c.249C>G (p.Val83=)
| dbSNP |
19 | g.853286C>T | CA504684856 | ELANE | c.249C>T (p.Val83=)
| gnomAD v4 |
19 | g.853287C>A | CA402915204 | ELANE | c.250C>A (p.Leu84Met)
| |
19 | g.853287C>G | CA402915207 | ELANE | c.250C>G (p.Leu84Val)
| |
19 | g.853287C>T | CA504684858 | ELANE | c.250C>T (p.Leu84=)
| |
19 | g.853288T>A | CA402915212 | ELANE | c.251T>A (p.Leu84Gln)
| |
19 | g.853288T>C | CA16620912 | ELANE | c.251T>C (p.Leu84Pro)
| ClinVar dbSNP |
19 | g.853288T>G | CA402915216 | ELANE | c.251T>G (p.Leu84Arg)
| |
19 | g.853288T= | CA2317360089 | ELANE | c.251T= (p.Leu84=)
| |
19 | g.853289G>A | CA504684860 | ELANE | c.252G>A (p.Leu84=)
| gnomAD v4 |
19 | g.853289G>C | CA504684862 | ELANE | c.252G>C (p.Leu84=)
| |
19 | g.853289G>T | CA504684861 | ELANE | c.252G>T (p.Leu84=)
| |
19 | g.853290G>A | CA402915219 | ELANE | c.253G>A (p.Gly85Arg)
| ClinVar dbSNP |
19 | g.853290G>C | CA402915224 | ELANE | c.253G>C (p.Gly85Arg)
| |
19 | g.853290G= | CA2317360091 | ELANE | c.253G= (p.Gly85=)
| |
19 | g.853290G>T | CA402915223 | ELANE | c.253G>T (p.Gly85Ter)
| dbSNP gnomAD v2 |
19 | g.853291G>A | CA402915227 | ELANE | c.254G>A (p.Gly85Glu)
| ClinVar dbSNP |
19 | g.853291G>C | CA402915230 | ELANE | c.254G>C (p.Gly85Ala)
| |
19 | g.853291G>T | CA402915233 | ELANE | c.254G>T (p.Gly85Val)
| ClinVar |
19 | g.853292A>C | CA504684863 | ELANE | c.255A>C (p.Gly85=)
| |
19 | g.853292A>G | CA504684864 | ELANE | c.255A>G (p.Gly85=)
| |
19 | g.853292A>T | CA504684865 | ELANE | c.255A>T (p.Gly85=)
| |
19 | g.853292_853303del | CA2580096959 | ELANE | c.255_266del (p.Ala86_Leu89del)
| ClinVar |
19 | g.853293G>A | CA402915235 | ELANE | c.256G>A (p.Ala86Thr)
| gnomAD v4 |
19 | g.853293G>C | CA402915238 | ELANE | c.256G>C (p.Ala86Pro)
| |
19 | g.853293G= | CA2317360094 | ELANE | c.256G= (p.Ala86=)
| |
19 | g.853293G>T | CA402915241 | ELANE | c.256G>T (p.Ala86Ser)
| ClinVar dbSNP gnomAD v4 |
19 | g.853294C>A | CA402915250 | ELANE | c.257C>A (p.Ala86Asp)
| |
19 | g.853294C= | CA2317360097 | ELANE | c.257C= (p.Ala86=)
| |
19 | g.853294C>G | CA402915253 | ELANE | c.257C>G (p.Ala86Gly)
| |
19 | g.853294C>T | CA9025986 | ELANE | c.257C>T (p.Ala86Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853296del | CA2587805075 | ELANE | c.259del (p.His87IlefsTer26)
| gnomAD v4 |
19 | g.853295_853306dup | CA9025985 | ELANE | c.258_269dup (p.Ser90_Arg91insHisAsnLeuSer)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853295C>A | CA504684869 | ELANE | c.258C>A (p.Ala86=)
| |
19 | g.853295C>G | CA504684870 | ELANE | c.258C>G (p.Ala86=)
| |
19 | g.853295C>T | CA504684871 | ELANE | c.258C>T (p.Ala86=)
| ClinVar dbSNP gnomAD v4 |
19 | g.853296C>A | CA402915266 | ELANE | c.259C>A (p.His87Asn)
| |
19 | g.853296C= | CA2317360098 | ELANE | c.259C= (p.His87=)
| |
19 | g.853296C>G | CA402915262 | ELANE | c.259C>G (p.His87Asp)
| |
19 | g.853296C>T | CA9025987 | ELANE | c.259C>T (p.His87Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853296_853298del | CA2695227787 | ELANE | c.259_261del (p.His87del)
| |
19 | g.853297A>C | CA402915858 | ELANE | c.260A>C (p.His87Pro)
| |
19 | g.853297A>G | CA402915863 | ELANE | c.260A>G (p.His87Arg)
| |
19 | g.853297A>T | CA402915861 | ELANE | c.260A>T (p.His87Leu)
| |
19 | g.853298T>A | CA402915866 | ELANE | c.261T>A (p.His87Gln)
| |
19 | g.853298T>C | CA504684933 | ELANE | c.261T>C (p.His87=)
| ClinVar dbSNP gnomAD v4 |
19 | g.853298T>G | CA402915868 | ELANE | c.261T>G (p.His87Gln)
| |
19 | g.853299A= | CA2317360099 | ELANE | c.262A= (p.Asn88=)
| |
19 | g.853299A>C | CA402915873 | ELANE | c.262A>C (p.Asn88His)
| |
19 | g.853299A>G | CA303943204 | ELANE | c.262A>G (p.Asn88Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853299A>T | CA402915877 | ELANE | c.262A>T (p.Asn88Tyr)
| |
19 | g.853300A>C | CA402915881 | ELANE | c.263A>C (p.Asn88Thr)
| |
19 | g.853300A>G | CA402915883 | ELANE | c.263A>G (p.Asn88Ser)
| |
19 | g.853300A>T | CA402915886 | ELANE | c.263A>T (p.Asn88Ile)
| gnomAD v4 |
19 | g.853301C>A | CA402915888 | ELANE | c.264C>A (p.Asn88Lys)
| ClinVar dbSNP |
19 | g.853301C= | CA2317360100 | ELANE | c.264C= (p.Asn88=)
| |
19 | g.853301C>G | CA9025988 | ELANE | c.264C>G (p.Asn88Lys)
| dbSNP ExAC |
19 | g.853301C>T | CA504684935 | ELANE | c.264C>T (p.Asn88=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853302C>A | CA402915893 | ELANE | c.265C>A (p.Leu89Ile)
| |
19 | g.853302C= | CA2317360101 | ELANE | c.265C= (p.Leu89=)
| |
19 | g.853302C>G | CA402915896 | ELANE | c.265C>G (p.Leu89Val)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853302C>T | CA402915897 | ELANE | c.265C>T (p.Leu89Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.853303T>A | CA402915900 | ELANE | c.266T>A (p.Leu89His)
| gnomAD v4 COSMIC |
19 | g.853303T>C | CA402915904 | ELANE | c.266T>C (p.Leu89Pro)
| |
19 | g.853303T>G | CA402915902 | ELANE | c.266T>G (p.Leu89Arg)
| |
19 | g.853304C>A | CA504684936 | ELANE | c.267C>A (p.Leu89=)
| |
19 | g.853304C= | CA2317360102 | ELANE | c.267C= (p.Leu89=)
| |
19 | g.853304C>G | CA504684939 | ELANE | c.267C>G (p.Leu89=)
| dbSNP |
19 | g.853304C>T | CA504684938 | ELANE | c.267C>T (p.Leu89=)
| |
19 | g.853305T>A | CA402915907 | ELANE | c.268T>A (p.Ser90Thr)
| |
19 | g.853305T>C | CA9025989 | ELANE | c.268T>C (p.Ser90Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853305T>G | CA402915921 | ELANE | c.268T>G (p.Ser90Ala)
| |
19 | g.853305T= | CA2317360104 | ELANE | c.268T= (p.Ser90=)
| |
19 | g.853306C>A | CA402915923 | ELANE | c.269C>A (p.Ser90Ter)
| ClinVar dbSNP |
19 | g.853306C= | CA2317360107 | ELANE | c.269C= (p.Ser90=)
| |
19 | g.853306C>G | CA402915928 | ELANE | c.269C>G (p.Ser90Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853306C>T | CA303943234 | ELANE | c.269C>T (p.Ser90Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.853307G>A | CA504684943 | ELANE | c.270G>A (p.Ser90=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853307G>C | CA504684942 | ELANE | c.270G>C (p.Ser90=)
| |
19 | g.853307G= | CA2317360144 | ELANE | c.270G= (p.Ser90=)
| |
19 | g.853307G>T | CA504684941 | ELANE | c.270G>T (p.Ser90=)
| |
19 | g.853307_853310dup | CA2580096960 | ELANE | c.270_273dup (p.Arg92AlafsTer?)
| ClinVar |
19 | g.853308C>A | CA504684944 | ELANE | c.271C>A (p.Arg91=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853308C= | CA2317360145 | ELANE | c.271C= (p.Arg91=)
| |
19 | g.853308C>G | CA402915933 | ELANE | c.271C>G (p.Arg91Gly)
| dbSNP |
19 | g.853308C>T | CA402915936 | ELANE | c.271C>T (p.Arg91Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853309G>A | CA402915938 | ELANE | c.272G>A (p.Arg91Gln)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.853309G>C | CA402915941 | ELANE | c.272G>C (p.Arg91Pro)
| ClinVar dbSNP gnomAD v4 |
19 | g.853309G= | CA2317360146 | ELANE | c.272G= (p.Arg91=)
| |
19 | g.853309G>T | CA402915943 | ELANE | c.272G>T (p.Arg91Leu)
| gnomAD v4 |
19 | g.853310G>A | CA504684945 | ELANE | c.273G>A (p.Arg91=)
| gnomAD v4 |
19 | g.853310G>C | CA504684947 | ELANE | c.273G>C (p.Arg91=)
| |
19 | g.853310G>T | CA504684946 | ELANE | c.273G>T (p.Arg91=)
| |
19 | g.853310_853311insT | CA2840296512 | ELANE | c.273_274insT (p.Arg92SerfsTer?)
| |
19 | g.853310_853311insTCC | CA2576540467 | ELANE | c.273_274insTCC (p.Arg91_Arg92insSer)
| |
19 | g.853311C>A | CA504684948 | ELANE | c.274C>A (p.Arg92=)
| |
19 | g.853311C= | CA2317360147 | ELANE | c.274C= (p.Arg92=)
| |
19 | g.853311C>G | CA402915945 | ELANE | c.274C>G (p.Arg92Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853311C>T | CA402915946 | ELANE | c.274C>T (p.Arg92Trp)
| gnomAD v4 |
19 | g.853311_853312insCT | CA2838208313 | ELANE | c.274_275insCT (p.Arg92ProfsTer22)
| |
19 | g.853312G>A | CA9025990 | ELANE | c.275G>A (p.Arg92Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853312G>C | CA402915947 | ELANE | c.275G>C (p.Arg92Pro)
| |
19 | g.853312G= | CA2317360148 | ELANE | c.275G= (p.Arg92=)
| |
19 | g.853312G>T | CA402915949 | ELANE | c.275G>T (p.Arg92Leu)
| |
19 | g.853313G>A | CA504684949 | ELANE | c.276G>A (p.Arg92=)
| |
19 | g.853313G>C | CA504684950 | ELANE | c.276G>C (p.Arg92=)
| |
19 | g.853313G>T | CA504684951 | ELANE | c.276G>T (p.Arg92=)
| |
19 | g.853314G>A | CA9025991 | ELANE | c.277G>A (p.Glu93Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853314G>C | CA402915951 | ELANE | c.277G>C (p.Glu93Gln)
| |
19 | g.853314G= | CA2317360149 | ELANE | c.277G= (p.Glu93=)
| |
19 | g.853314G>T | CA402915952 | ELANE | c.277G>T (p.Glu93Ter)
| |
19 | g.853315A>C | CA402915960 | ELANE | c.278A>C (p.Glu93Ala)
| |
19 | g.853315A>G | CA402915955 | ELANE | c.278A>G (p.Glu93Gly)
| |
19 | g.853315A>T | CA402915957 | ELANE | c.278A>T (p.Glu93Val)
| |
19 | g.853316G>A | CA504684952 | ELANE | c.279G>A (p.Glu93=)
| |
19 | g.853316G>C | CA402915963 | ELANE | c.279G>C (p.Glu93Asp)
| |
19 | g.853316G= | CA2317360150 | ELANE | c.279G= (p.Glu93=)
| |
19 | g.853316G>T | CA402915966 | ELANE | c.279G>T (p.Glu93Asp)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853317C>A | CA402915969 | ELANE | c.280C>A (p.Pro94Thr)
| ClinVar dbSNP gnomAD v4 |
19 | g.853317C= | CA2317360151 | ELANE | c.280C= (p.Pro94=)
| |
19 | g.853317C>G | CA402915975 | ELANE | c.280C>G (p.Pro94Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853317C>T | CA402915979 | ELANE | c.280C>T (p.Pro94Ser)
| gnomAD v4 |
19 | g.853318C>A | CA402915985 | ELANE | c.281C>A (p.Pro94His)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853318C= | CA2317360152 | ELANE | c.281C= (p.Pro94=)
| |
19 | g.853318C>G | CA402915988 | ELANE | c.281C>G (p.Pro94Arg)
| |
19 | g.853318C>T | CA402915986 | ELANE | c.281C>T (p.Pro94Leu)
| |
19 | g.853319C>A | CA504684953 | ELANE | c.282C>A (p.Pro94=)
| |
19 | g.853319C>G | CA504684954 | ELANE | c.282C>G (p.Pro94=)
| |
19 | g.853319C>T | CA504684955 | ELANE | c.282C>T (p.Pro94=)
| ClinVar gnomAD v4 |
19 | g.853320A>C | CA402915989 | ELANE | c.283A>C (p.Thr95Pro)
| |
19 | g.853320A>G | CA402915990 | ELANE | c.283A>G (p.Thr95Ala)
| |
19 | g.853320A>T | CA402915991 | ELANE | c.283A>T (p.Thr95Ser)
| |
19 | g.853320_853321insTAACCTCT | CA2576540468 | ELANE | c.283_284insTAACCTCT (p.Thr95IlefsTer21)
| |
19 | g.853321C>A | CA402915992 | ELANE | c.284C>A (p.Thr95Asn)
| |
19 | g.853321C= | CA2317360153 | ELANE | c.284C= (p.Thr95=)
| |
19 | g.853321C>G | CA402915994 | ELANE | c.284C>G (p.Thr95Ser)
| ClinVar dbSNP |
19 | g.853321C>T | CA9025992 | ELANE | c.284C>T (p.Thr95Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853322C>A | CA504684956 | ELANE | c.285C>A (p.Thr95=)
| |
19 | g.853322C= | CA2317360154 | ELANE | c.285C= (p.Thr95=)
| |
19 | g.853322C>G | CA9025993 | ELANE | c.285C>G (p.Thr95=)
| dbSNP ExAC gnomAD v2 |
19 | g.853322C>T | CA303943268 | ELANE | c.285C>T (p.Thr95=)
| dbSNP |
19 | g.853323C>A | CA504684957 | ELANE | c.286C>A (p.Arg96=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853323C= | CA2317360155 | ELANE | c.286C= (p.Arg96=)
| |
19 | g.853323C>G | CA402916001 | ELANE | c.286C>G (p.Arg96Gly)
| |
19 | g.853323C>T | CA9025994 | ELANE | c.286C>T (p.Arg96Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853324G>A | CA402916007 | ELANE | c.287G>A (p.Arg96Gln)
| gnomAD v4 |
19 | g.853324G>C | CA402916008 | ELANE | c.287G>C (p.Arg96Pro)
| ClinVar gnomAD v4 |
19 | g.853324G= | CA2317360156 | ELANE | c.287G= (p.Arg96=)
| |
19 | g.853324G>T | CA303943271 | ELANE | c.287G>T (p.Arg96Leu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.853325G>A | CA504684958 | ELANE | c.288G>A (p.Arg96=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853325G>C | CA504684960 | ELANE | c.288G>C (p.Arg96=)
| |
19 | g.853325G= | CA2317360157 | ELANE | c.288G= (p.Arg96=)
| |
19 | g.853325G>T | CA504684959 | ELANE | c.288G>T (p.Arg96=)
| gnomAD v4 |
19 | g.853329_853343del | CA2695227788 | ELANE | c.292_306del (p.Val98_Gln102del)
| |
19 | g.853326C>A | CA402916015 | ELANE | c.289C>A (p.Gln97Lys)
| |
19 | g.853326C>G | CA402916012 | ELANE | c.289C>G (p.Gln97Glu)
| |
19 | g.853326C>T | CA402916011 | ELANE | c.289C>T (p.Gln97Ter)
| |
19 | g.853326_853337dup | CA2580096961 | ELANE | c.289_300dup (p.Ala100_Val101insGlnValPheAla)
| ClinVar dbSNP |
19 | g.853327A= | CA2317360158 | ELANE | c.290A= (p.Gln97=)
| |
19 | g.853327A>C | CA402916021 | ELANE | c.290A>C (p.Gln97Pro)
| ClinVar dbSNP COSMIC |
19 | g.853327A>G | CA402916018 | ELANE | c.290A>G (p.Gln97Arg)
| |
19 | g.853327A>T | CA402916023 | ELANE | c.290A>T (p.Gln97Leu)
| |
19 | g.853328G>A | CA504684961 | ELANE | c.291G>A (p.Gln97=)
| |
19 | g.853328G>C | CA402916025 | ELANE | c.291G>C (p.Gln97His)
| |
19 | g.853328G>T | CA402916027 | ELANE | c.291G>T (p.Gln97His)
| |
19 | g.853329G>A | CA402916032 | ELANE | c.292G>A (p.Val98Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853329G>C | CA402916035 | ELANE | c.292G>C (p.Val98Leu)
| |
19 | g.853329G= | CA2317360159 | ELANE | c.292G= (p.Val98=)
| |
19 | g.853329G>T | CA084207 | ELANE | c.292G>T (p.Val98Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.[853329G>T;853338G>T] | CA084432 | ELANE | c.[292G>T;301G>T] (p.[Val98Leu;Val101Leu])
| |
19 | g.853331_853332dup | CA2587805076 | ELANE | c.294_295dup (p.Phe99CysfsTer15)
| gnomAD v4 |
19 | g.853329_853338delinsTTGTTCGCCT | CA2695227789 | ELANE | c.292_301delinsTTGTTCGCCT (p.Val98_Val101delinsLeuPheAlaLeu)
| |
19 | g.853330T>A | CA402916038 | ELANE | c.293T>A (p.Val98Glu)
| |
19 | g.853330T>C | CA402916043 | ELANE | c.293T>C (p.Val98Ala)
| |
19 | g.853330T>G | CA402916041 | ELANE | c.293T>G (p.Val98Gly)
| ClinVar dbSNP |
19 | g.853331G>A | CA504684962 | ELANE | c.294G>A (p.Val98=)
| dbSNP |
19 | g.853331G>C | CA504684963 | ELANE | c.294G>C (p.Val98=)
| |
19 | g.853331G= | CA2317360160 | ELANE | c.294G= (p.Val98=)
| |
19 | g.853331G>T | CA504684964 | ELANE | c.294G>T (p.Val98=)
| |
19 | g.853332T>A | CA402916047 | ELANE | c.295T>A (p.Phe99Ile)
| |
19 | g.853332T>C | CA402916051 | ELANE | c.295T>C (p.Phe99Leu)
| ClinVar |
19 | g.853332T>G | CA402916053 | ELANE | c.295T>G (p.Phe99Val)
| |
19 | g.853332_853337dup | CA2695227790 | ELANE | c.295_300dup (p.Ala100_Val101insPheAla)
| |
19 | g.853333T>A | CA402916056 | ELANE | c.296T>A (p.Phe99Tyr)
| |
19 | g.853333T>C | CA16622124 | ELANE | c.296T>C (p.Phe99Ser)
| |
19 | g.853333T>G | CA402916061 | ELANE | c.296T>G (p.Phe99Cys)
| |
19 | g.853334C>A | CA402916064 | ELANE | c.297C>A (p.Phe99Leu)
| |
19 | g.853334C= | CA2317360161 | ELANE | c.297C= (p.Phe99=)
| |
19 | g.853334C>G | CA9025995 | ELANE | c.297C>G (p.Phe99Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853334C>T | CA504684966 | ELANE | c.297C>T (p.Phe99=)
| |
19 | g.853335G>A | CA402916069 | ELANE | c.298G>A (p.Ala100Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853335G>C | CA402916071 | ELANE | c.298G>C (p.Ala100Pro)
| |
19 | g.853335G= | CA2317360162 | ELANE | c.298G= (p.Ala100=)
| |
19 | g.853335G>T | CA303943280 | ELANE | c.298G>T (p.Ala100Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853336C>A | CA402916081 | ELANE | c.299C>A (p.Ala100Asp)
| |
19 | g.853336C>G | CA402916077 | ELANE | c.299C>G (p.Ala100Gly)
| |
19 | g.853336C>T | CA402916079 | ELANE | c.299C>T (p.Ala100Val)
| |
19 | g.853337dup | CA2573155741 | ELANE | c.300dup (p.Val101ArgfsTer?)
| ClinVar dbSNP |
19 | g.853337C>A | CA504684967 | ELANE | c.300C>A (p.Ala100=)
| COSMIC |
19 | g.853337C= | CA2317360163 | ELANE | c.300C= (p.Ala100=)
| |
19 | g.853337C>G | CA504684968 | ELANE | c.300C>G (p.Ala100=)
| gnomAD v4 |
19 | g.853337C>T | CA303943292 | ELANE | c.300C>T (p.Ala100=)
| ClinVar dbSNP gnomAD v4 |
19 | g.853338G>A | CA303943293 | ELANE | c.301G>A (p.Val101Met)
| ClinVar dbSNP gnomAD v4 |
19 | g.853338G>C | CA402916088 | ELANE | c.301G>C (p.Val101Leu)
| COSMIC |
19 | g.853338G= | CA2317360164 | ELANE | c.301G= (p.Val101=)
| |
19 | g.853338G>T | CA084287 | ELANE | c.301G>T (p.Val101Leu)
| dbSNP gnomAD v4 |
19 | g.853339T>A | CA402916092 | ELANE | c.302T>A (p.Val101Glu)
| |
19 | g.853339T>C | CA402916095 | ELANE | c.302T>C (p.Val101Ala)
| |
19 | g.853339T>G | CA402916099 | ELANE | c.302T>G (p.Val101Gly)
| |
19 | g.853340G>A | CA504684970 | ELANE | c.303G>A (p.Val101=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.853340G>C | CA504684971 | ELANE | c.303G>C (p.Val101=)
| |
19 | g.853340G= | CA2317360165 | ELANE | c.303G= (p.Val101=)
| |
19 | g.853340G>T | CA504684972 | ELANE | c.303G>T (p.Val101=)
| |
19 | g.853341C>A | CA402916101 | ELANE | c.304C>A (p.Gln102Lys)
| dbSNP gnomAD v4 |
19 | g.853341C= | CA2317360166 | ELANE | c.304C= (p.Gln102=)
| |
19 | g.853341C>G | CA9025996 | ELANE | c.304C>G (p.Gln102Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853341C>T | CA402916104 | ELANE | c.304C>T (p.Gln102Ter)
| |
19 | g.853342A= | CA2317360167 | ELANE | c.305A= (p.Gln102=)
| |
19 | g.853342A>C | CA402916111 | ELANE | c.305A>C (p.Gln102Pro)
| ClinVar dbSNP |
19 | g.853342A>G | CA303943298 | ELANE | c.305A>G (p.Gln102Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853342A>T | CA402916107 | ELANE | c.305A>T (p.Gln102Leu)
| |
19 | g.853343G>A | CA504684973 | ELANE | c.306G>A (p.Gln102=)
| |
19 | g.853343G>C | CA402916114 | ELANE | c.306G>C (p.Gln102His)
| gnomAD v4 |
19 | g.853343G>T | CA402916117 | ELANE | c.306G>T (p.Gln102His)
| gnomAD v4 |
19 | g.853344C>A | CA9025997 | ELANE | c.307C>A (p.Arg103Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853344C= | CA2317360168 | ELANE | c.307C= (p.Arg103=)
| |
19 | g.853344C>G | CA402916118 | ELANE | c.307C>G (p.Arg103Gly)
| |
19 | g.853344C>T | CA402916119 | ELANE | c.307C>T (p.Arg103Cys)
| |
19 | g.853345G>A | CA9025998 | ELANE | c.308G>A (p.Arg103His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853345G>C | CA402916128 | ELANE | c.308G>C (p.Arg103Pro)
| ClinVar dbSNP |
19 | g.853345G= | CA2317360169 | ELANE | c.308G= (p.Arg103=)
| |
19 | g.853345G>T | CA16620913 | ELANE | c.308G>T (p.Arg103Leu)
| ClinVar dbSNP |
19 | g.853346C>A | CA504684976 | ELANE | c.309C>A (p.Arg103=)
| |
19 | g.853346C>G | CA504684977 | ELANE | c.309C>G (p.Arg103=)
| |
19 | g.853346C>T | CA504684975 | ELANE | c.309C>T (p.Arg103=)
| |
19 | g.853347A>C | CA402916132 | ELANE | c.310A>C (p.Ile104Leu)
| |
19 | g.853347A>G | CA402916134 | ELANE | c.310A>G (p.Ile104Val)
| |
19 | g.853347A>T | CA402916136 | ELANE | c.310A>T (p.Ile104Phe)
| |
19 | g.853348T>A | CA402916145 | ELANE | c.311T>A (p.Ile104Asn)
| |
19 | g.853348T>C | CA402916143 | ELANE | c.311T>C (p.Ile104Thr)
| |
19 | g.853348T>G | CA402916140 | ELANE | c.311T>G (p.Ile104Ser)
| |
19 | g.853349C>A | CA504684980 | ELANE | c.312C>A (p.Ile104=)
| |
19 | g.853349C>G | CA402916147 | ELANE | c.312C>G (p.Ile104Met)
| gnomAD v4 |
19 | g.853349C>T | CA504684979 | ELANE | c.312C>T (p.Ile104=)
| |
19 | g.853350T>A | CA402916149 | ELANE | c.313T>A (p.Phe105Ile)
| |
19 | g.853350T>C | CA402916152 | ELANE | c.313T>C (p.Phe105Leu)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853350T>G | CA402916155 | ELANE | c.313T>G (p.Phe105Val)
| |
19 | g.853350T= | CA2317360170 | ELANE | c.313T= (p.Phe105=)
| |
19 | g.853351T>A | CA402916157 | ELANE | c.314T>A (p.Phe105Tyr)
| |
19 | g.853351T>C | CA402916160 | ELANE | c.314T>C (p.Phe105Ser)
| |
19 | g.853351T>G | CA402916161 | ELANE | c.314T>G (p.Phe105Cys)
| |
19 | g.853352C>A | CA402916164 | ELANE | c.315C>A (p.Phe105Leu)
| |
19 | g.853352C= | CA2317360171 | ELANE | c.315C= (p.Phe105=)
| |
19 | g.853352C>G | CA402916166 | ELANE | c.315C>G (p.Phe105Leu)
| ClinVar dbSNP gnomAD v4 |
19 | g.853352C>T | CA504684981 | ELANE | c.315C>T (p.Phe105=)
| ClinVar gnomAD v4 |
19 | g.853353G>A | CA402916170 | ELANE | c.316G>A (p.Glu106Lys)
| gnomAD v4 |
19 | g.853353G>C | CA402916173 | ELANE | c.316G>C (p.Glu106Gln)
| |
19 | g.853353G>T | CA402916175 | ELANE | c.316G>T (p.Glu106Ter)
| |
19 | g.853354A>C | CA402916181 | ELANE | c.317A>C (p.Glu106Ala)
| ClinVar |
19 | g.853354A>G | CA402916183 | ELANE | c.317A>G (p.Glu106Gly)
| dbSNP |
19 | g.853354A>T | CA402916178 | ELANE | c.317A>T (p.Glu106Val)
| |
19 | g.853355A>C | CA402916189 | ELANE | c.318A>C (p.Glu106Asp)
| |
19 | g.853355A>G | CA504684982 | ELANE | c.318A>G (p.Glu106=)
| gnomAD v4 |
19 | g.853355A>T | CA402916188 | ELANE | c.318A>T (p.Glu106Asp)
| |
19 | g.853356A>C | CA402916194 | ELANE | c.319A>C (p.Asn107His)
| |
19 | g.853356A>G | CA402916196 | ELANE | c.319A>G (p.Asn107Asp)
| ClinVar |
19 | g.853356A>T | CA402916198 | ELANE | c.319A>T (p.Asn107Tyr)
| |
19 | g.853357A>C | CA402916201 | ELANE | c.320A>C (p.Asn107Thr)
| |
19 | g.853357A>G | CA402916204 | ELANE | c.320A>G (p.Asn107Ser)
| |
19 | g.853357A>T | CA402916206 | ELANE | c.320A>T (p.Asn107Ile)
| |
19 | g.853359_853367del | CA2587805077 | ELANE | c.322_330del (p.Gly108_Asp110del)
| gnomAD v4 |
19 | g.853358del | CA2587805078 | ELANE | c.321del (p.Asn107LysfsTer6)
| gnomAD v4 |
19 | g.853358C>A | CA402916210 | ELANE | c.321C>A (p.Asn107Lys)
| dbSNP gnomAD v4 |
19 | g.853358C= | CA2317360172 | ELANE | c.321C= (p.Asn107=)
| |
19 | g.853358C>G | CA402916213 | ELANE | c.321C>G (p.Asn107Lys)
| |
19 | g.853358C>T | CA9025999 | ELANE | c.321C>T (p.Asn107=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853359G>A | CA402916218 | ELANE | c.322G>A (p.Gly108Ser)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.853359G>C | CA402916220 | ELANE | c.322G>C (p.Gly108Arg)
| ClinVar dbSNP gnomAD v4 |
19 | g.853359G= | CA2317360173 | ELANE | c.322G= (p.Gly108=)
| |
19 | g.853359G>T | CA402916223 | ELANE | c.322G>T (p.Gly108Cys)
| ClinVar gnomAD v4 |
19 | g.853360G>A | CA402916226 | ELANE | c.323G>A (p.Gly108Asp)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853360G>C | CA402916229 | ELANE | c.323G>C (p.Gly108Ala)
| |
19 | g.853360G= | CA2317360174 | ELANE | c.323G= (p.Gly108=)
| |
19 | g.853360G>T | CA402916227 | ELANE | c.323G>T (p.Gly108Val)
| gnomAD v4 |
19 | g.853361del | CA2587805079 | ELANE | c.324del (p.Tyr109ThrfsTer4)
| gnomAD v4 |
19 | g.853361C>A | CA504684983 | ELANE | c.324C>A (p.Gly108=)
| gnomAD v4 COSMIC |
19 | g.853361C>G | CA504684984 | ELANE | c.324C>G (p.Gly108=)
| |
19 | g.853361C>T | CA504684985 | ELANE | c.324C>T (p.Gly108=)
| ClinVar dbSNP gnomAD v4 |
19 | g.853362T>A | CA402916231 | ELANE | c.325T>A (p.Tyr109Asn)
| |
19 | g.853362T>C | CA402916234 | ELANE | c.325T>C (p.Tyr109His)
| |
19 | g.853362T>G | CA402916236 | ELANE | c.325T>G (p.Tyr109Asp)
| |
19 | g.853363A>C | CA402916240 | ELANE | c.326A>C (p.Tyr109Ser)
| |
19 | g.853363A>G | CA402916242 | ELANE | c.326A>G (p.Tyr109Cys)
| |
19 | g.853363A>T | CA402916246 | ELANE | c.326A>T (p.Tyr109Phe)
| |
19 | g.853364C>A | CA402916249 | ELANE | c.327C>A (p.Tyr109Ter)
| |
19 | g.853364C= | CA2317360175 | ELANE | c.327C= (p.Tyr109=)
| |
19 | g.853364C>G | CA402916251 | ELANE | c.327C>G (p.Tyr109Ter)
| dbSNP |
19 | g.853364C>T | CA504684986 | ELANE | c.327C>T (p.Tyr109=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853365G>A | CA402916253 | ELANE | c.328G>A (p.Asp110Asn)
| dbSNP |
19 | g.853365G>C | CA402916255 | ELANE | c.328G>C (p.Asp110His)
| |
19 | g.853365G>T | CA402916258 | ELANE | c.328G>T (p.Asp110Tyr)
| gnomAD v4 |
19 | g.853366A>C | CA402916265 | ELANE | c.329A>C (p.Asp110Ala)
| |
19 | g.853366A>G | CA402916267 | ELANE | c.329A>G (p.Asp110Gly)
| |
19 | g.853366A>T | CA402916263 | ELANE | c.329A>T (p.Asp110Val)
| |
19 | g.853366_853367delinsAC | CA2317360176 | ELANE | c.329_330delinsAC (p.Asp110=)
| |
19 | g.853367C>A | CA402916272 | ELANE | c.330C>A (p.Asp110Glu)
| |
19 | g.853367C= | CA2317360177 | ELANE | c.330C= (p.Asp110=)
| |
19 | g.853367C>G | CA402916274 | ELANE | c.330C>G (p.Asp110Glu)
| |
19 | g.853367C>T | CA303943303 | ELANE | c.330C>T (p.Asp110=)
| dbSNP gnomAD v4 |
19 | g.853370del | CA631007808 | ELANE | c.333del (p.Val112Ter)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853368C>A | CA402916278 | ELANE | c.331C>A (p.Pro111Thr)
| gnomAD v4 |
19 | g.853368C>G | CA402916280 | ELANE | c.331C>G (p.Pro111Ala)
| |
19 | g.853368C>T | CA402916283 | ELANE | c.331C>T (p.Pro111Ser)
| |
19 | g.853369C>A | CA402916285 | ELANE | c.332C>A (p.Pro111His)
| |
19 | g.853369C>G | CA402916288 | ELANE | c.332C>G (p.Pro111Arg)
| |
19 | g.853369C>T | CA402916289 | ELANE | c.332C>T (p.Pro111Leu)
| |
19 | g.853370C>A | CA504684987 | ELANE | c.333C>A (p.Pro111=)
| |
19 | g.853370C= | CA2317360178 | ELANE | c.333C= (p.Pro111=)
| |
19 | g.853370C>G | CA9026001 | ELANE | c.333C>G (p.Pro111=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853370C>T | CA9026000 | ELANE | c.333C>T (p.Pro111=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853370_853373dup | CA2695227791 | ELANE | c.333_336dup (p.Asn113ArgfsTer?)
| |
19 | g.853371G>A | CA9026002 | ELANE | c.334G>A (p.Val112Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853371G>C | CA402916292 | ELANE | c.334G>C (p.Val112Leu)
| |
19 | g.853371G= | CA2317360180 | ELANE | c.334G= (p.Val112=)
| |
19 | g.853371G>T | CA402916295 | ELANE | c.334G>T (p.Val112Leu)
| |
19 | g.853371_853395delinsGTAAACTTGCTCAACGACATCGTGA | CA2317360179 | ELANE | c.334_358delinsGTAAACTTGCTCAACGACATCGTGA (p.Val112=)
| |