19 | g.852992C>A | CA402914776 | ELANE | c.184C>A (p.Pro62Thr)
| gnomAD v4 |
19 | g.852992C= | CA2317359644 | ELANE | c.184C= (p.Pro62=)
| |
19 | g.852992C>G | CA402914777 | ELANE | c.184C>G (p.Pro62Ala)
| |
19 | g.852992C>T | CA402914773 | ELANE | c.184C>T (p.Pro62Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.852993C>A | CA402914780 | ELANE | c.185C>A (p.Pro62His)
| gnomAD v4 |
19 | g.852993C>G | CA402914782 | ELANE | c.185C>G (p.Pro62Arg)
| |
19 | g.852993C>T | CA402914785 | ELANE | c.185C>T (p.Pro62Leu)
| gnomAD v4 |
19 | g.852994C>A | CA504684759 | ELANE | c.186C>A (p.Pro62=)
| gnomAD v4 |
19 | g.852994C= | CA2317359645 | ELANE | c.186C= (p.Pro62=)
| |
19 | g.852994C>G | CA504684760 | ELANE | c.186C>G (p.Pro62=)
| dbSNP gnomAD v4 |
19 | g.852994C>T | CA504684761 | ELANE | c.186C>T (p.Pro62=)
| gnomAD v4 |
19 | g.852994_852995delinsCA | CA2317359646 | ELANE | c.186_187delinsCA (p.Pro62=)
| |
19 | g.852995A= | CA2317359647 | ELANE | c.187A= (p.Asn63=)
| |
19 | g.852995A>C | CA402914788 | ELANE | c.187A>C (p.Asn63His)
| |
19 | g.852995A>G | CA402914791 | ELANE | c.187A>G (p.Asn63Asp)
| |
19 | g.852995A>T | CA402914793 | ELANE | c.187A>T (p.Asn63Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852996del | CA884312888 | ELANE | c.188del (p.Asn63ThrfsTer13)
| dbSNP |
19 | g.852996A= | CA2317359648 | ELANE | c.188A= (p.Asn63=)
| |
19 | g.852996A>C | CA402914795 | ELANE | c.188A>C (p.Asn63Thr)
| |
19 | g.852996A>G | CA402914798 | ELANE | c.188A>G (p.Asn63Ser)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852996A>T | CA402914801 | ELANE | c.188A>T (p.Asn63Ile)
| |
19 | g.852997C>A | CA402914803 | ELANE | c.189C>A (p.Asn63Lys)
| ClinVar dbSNP gnomAD v4 |
19 | g.852997C>G | CA402914805 | ELANE | c.189C>G (p.Asn63Lys)
| |
19 | g.852997C>T | CA504684762 | ELANE | c.189C>T (p.Asn63=)
| |
19 | g.852998T>A | CA402914813 | ELANE | c.190T>A (p.Phe64Ile)
| gnomAD v4 |
19 | g.852998T>C | CA402914810 | ELANE | c.190T>C (p.Phe64Leu)
| gnomAD v4 |
19 | g.852998T>G | CA402914808 | ELANE | c.190T>G (p.Phe64Val)
| |
19 | g.852999T>A | CA402914816 | ELANE | c.191T>A (p.Phe64Tyr)
| |
19 | g.852999T>C | CA402914819 | ELANE | c.191T>C (p.Phe64Ser)
| gnomAD v4 |
19 | g.852999T>G | CA402914820 | ELANE | c.191T>G (p.Phe64Cys)
| |
19 | g.853001_853003del | CA2695227780 | ELANE | c.193_195del (p.Val65del)
| |
19 | g.853000C>A | CA402914823 | ELANE | c.192C>A (p.Phe64Leu)
| gnomAD v4 |
19 | g.853000C= | CA2317359649 | ELANE | c.192C= (p.Phe64=)
| |
19 | g.853000C>G | CA402914826 | ELANE | c.192C>G (p.Phe64Leu)
| |
19 | g.853000C>T | CA504684763 | ELANE | c.192C>T (p.Phe64=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853001del | CA2695196516 | ELANE | c.193del (p.Val65SerfsTer11)
| |
19 | g.853001G>A | CA402914829 | ELANE | c.193G>A (p.Val65Ile)
| gnomAD v4 |
19 | g.853001G>C | CA402914831 | ELANE | c.193G>C (p.Val65Leu)
| dbSNP gnomAD v4 |
19 | g.853001G= | CA2317359650 | ELANE | c.193G= (p.Val65=)
| |
19 | g.853001G>T | CA402914834 | ELANE | c.193G>T (p.Val65Phe)
| gnomAD v4 COSMIC |
19 | g.853002T>A | CA402914838 | ELANE | c.194T>A (p.Val65Asp)
| ClinVar dbSNP |
19 | g.853002T>C | CA402914839 | ELANE | c.194T>C (p.Val65Ala)
| |
19 | g.853002T>G | CA402914842 | ELANE | c.194T>G (p.Val65Gly)
| |
19 | g.853002T= | CA2317359652 | ELANE | c.194T= (p.Val65=)
| |
19 | g.853003C>A | CA504684764 | ELANE | c.195C>A (p.Val65=)
| gnomAD v4 |
19 | g.853003C= | CA2317359653 | ELANE | c.195C= (p.Val65=)
| |
19 | g.853003C>G | CA504684765 | ELANE | c.195C>G (p.Val65=)
| |
19 | g.853003C>T | CA504684766 | ELANE | c.195C>T (p.Val65=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853003_853018delinsA | CA2695227781 | ELANE | c.195_210delinsA (p.Met66_His70del)
| |
19 | g.853004A>C | CA402914851 | ELANE | c.196A>C (p.Met66Leu)
| |
19 | g.853004A>G | CA402914848 | ELANE | c.196A>G (p.Met66Val)
| gnomAD v4 |
19 | g.853004A>T | CA402914846 | ELANE | c.196A>T (p.Met66Leu)
| dbSNP |
19 | g.853005T>A | CA402914854 | ELANE | c.197T>A (p.Met66Lys)
| |
19 | g.853005T>C | CA402914859 | ELANE | c.197T>C (p.Met66Thr)
| |
19 | g.853005T>G | CA402914856 | ELANE | c.197T>G (p.Met66Arg)
| ClinVar |
19 | g.853006G>A | CA402914863 | ELANE | c.198G>A (p.Met66Ile)
| gnomAD v4 |
19 | g.853006G>C | CA402914864 | ELANE | c.198G>C (p.Met66Ile)
| gnomAD v4 |
19 | g.853006G>T | CA402914867 | ELANE | c.198G>T (p.Met66Ile)
| gnomAD v4 |
19 | g.853007_853015del | CA2695227782 | ELANE | c.199_207del (p.Ser67_Ala69del)
| |
19 | g.853007T>A | CA402914869 | ELANE | c.199T>A (p.Ser67Thr)
| |
19 | g.853007T>C | CA402914871 | ELANE | c.199T>C (p.Ser67Pro)
| gnomAD v4 |
19 | g.853007T>G | CA402914873 | ELANE | c.199T>G (p.Ser67Ala)
| |
19 | g.853008C>A | CA402914875 | ELANE | c.200C>A (p.Ser67Ter)
| gnomAD v4 |
19 | g.853008C= | CA2317359654 | ELANE | c.200C= (p.Ser67=)
| |
19 | g.853008C>G | CA402914877 | ELANE | c.200C>G (p.Ser67Trp)
| |
19 | g.853008C>T | CA402914880 | ELANE | c.200C>T (p.Ser67Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853010_853015del | CA2695227783 | ELANE | c.202_207del (p.Ala68_Ala69del)
| |
19 | g.853009G>A | CA504684771 | ELANE | c.201G>A (p.Ser67=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853009G>C | CA504684773 | ELANE | c.201G>C (p.Ser67=)
| |
19 | g.853009G= | CA2317359655 | ELANE | c.201G= (p.Ser67=)
| |
19 | g.853009G>T | CA9025949 | ELANE | c.201G>T (p.Ser67=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853010G>A | CA402914885 | ELANE | c.202G>A (p.Ala68Thr)
| gnomAD v4 |
19 | g.853010G>C | CA402914887 | ELANE | c.202G>C (p.Ala68Pro)
| |
19 | g.853010G>T | CA402914889 | ELANE | c.202G>T (p.Ala68Ser)
| gnomAD v4 |
19 | g.853011C>A | CA402914897 | ELANE | c.203C>A (p.Ala68Asp)
| gnomAD v4 COSMIC |
19 | g.853011C>G | CA402914896 | ELANE | c.203C>G (p.Ala68Gly)
| |
19 | g.853011C>T | CA402914892 | ELANE | c.203C>T (p.Ala68Val)
| gnomAD v4 |
19 | g.853012C>A | CA504684774 | ELANE | c.204C>A (p.Ala68=)
| gnomAD v4 |
19 | g.853012C= | CA2317359657 | ELANE | c.204C= (p.Ala68=)
| |
19 | g.853012C>G | CA504684775 | ELANE | c.204C>G (p.Ala68=)
| |
19 | g.853012C>T | CA504684777 | ELANE | c.204C>T (p.Ala68=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853012_853013delinsCG | CA2317359656 | ELANE | c.204_205delinsCG (p.Ala68=)
| |
19 | g.853013del | CA631295719 | ELANE | c.205del (p.Ala69ArgfsTer7)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853013G>A | CA402914901 | ELANE | c.205G>A (p.Ala69Thr)
| ClinVar gnomAD v4 |
19 | g.853013G>C | CA402914903 | ELANE | c.205G>C (p.Ala69Pro)
| |
19 | g.853013G>T | CA402914905 | ELANE | c.205G>T (p.Ala69Ser)
| gnomAD v4 |
19 | g.853014C>A | CA402914906 | ELANE | c.206C>A (p.Ala69Glu)
| gnomAD v4 |
19 | g.853014C>G | CA402914908 | ELANE | c.206C>G (p.Ala69Gly)
| |
19 | g.853014C>T | CA402914910 | ELANE | c.206C>T (p.Ala69Val)
| gnomAD v4 |
19 | g.853015G>A | CA504684785 | ELANE | c.207G>A (p.Ala69=)
| gnomAD v4 |
19 | g.853015G>C | CA504684786 | ELANE | c.207G>C (p.Ala69=)
| |
19 | g.853015G>T | CA504684788 | ELANE | c.207G>T (p.Ala69=)
| gnomAD v4 |
19 | g.853016C>A | CA402914914 | ELANE | c.208C>A (p.His70Asn)
| gnomAD v4 |
19 | g.853016C>G | CA402914916 | ELANE | c.208C>G (p.His70Asp)
| |
19 | g.853016C>T | CA402914920 | ELANE | c.208C>T (p.His70Tyr)
| gnomAD v4 |
19 | g.853017A>C | CA402914923 | ELANE | c.209A>C (p.His70Pro)
| gnomAD v4 |
19 | g.853017A>G | CA402914924 | ELANE | c.209A>G (p.His70Arg)
| gnomAD v4 |
19 | g.853017A>T | CA402914925 | ELANE | c.209A>T (p.His70Leu)
| gnomAD v4 |
19 | g.853018C>A | CA402914927 | ELANE | c.210C>A (p.His70Gln)
| gnomAD v4 |
19 | g.853018C= | CA2317359658 | ELANE | c.210C= (p.His70=)
| |
19 | g.853018C>G | CA402914929 | ELANE | c.210C>G (p.His70Gln)
| |
19 | g.853018C>T | CA303942832 | ELANE | c.210C>T (p.His70=)
| ClinVar dbSNP gnomAD v4 |
19 | g.853019T>A | CA402914933 | ELANE | c.211T>A (p.Cys71Ser)
| gnomAD v4 |
19 | g.853019T>C | CA281057 | ELANE | c.211T>C (p.Cys71Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853019T>G | CA402914931 | ELANE | c.211T>G (p.Cys71Gly)
| gnomAD v4 |
19 | g.853019T= | CA2317359659 | ELANE | c.211T= (p.Cys71=)
| |
19 | g.853020G>A | CA402914936 | ELANE | c.212G>A (p.Cys71Tyr)
| gnomAD v4 COSMIC |
19 | g.853020G>C | CA402914937 | ELANE | c.212G>C (p.Cys71Ser)
| |
19 | g.853020G= | CA2317359663 | ELANE | c.212G= (p.Cys71=)
| |
19 | g.853020G>T | CA10583958 | ELANE | c.212G>T (p.Cys71Phe)
| ClinVar dbSNP gnomAD v4 |
19 | g.853021C>A | CA402914939 | ELANE | c.213C>A (p.Cys71Ter)
| gnomAD v4 |
19 | g.853021C= | CA2317359666 | ELANE | c.213C= (p.Cys71=)
| |
19 | g.853021C>G | CA402914942 | ELANE | c.213C>G (p.Cys71Trp)
| |
19 | g.853021C>T | CA504684795 | ELANE | c.213C>T (p.Cys71=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853022G>A | CA281052 | ELANE | c.214G>A (p.Val72Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.853022G>C | CA402914946 | ELANE | c.214G>C (p.Val72Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853022G= | CA2317359670 | ELANE | c.214G= (p.Val72=)
| |
19 | g.853022G>T | CA402914944 | ELANE | c.214G>T (p.Val72Leu)
| gnomAD v4 |
19 | g.853023T>A | CA402914950 | ELANE | c.215T>A (p.Val72Glu)
| gnomAD v4 |
19 | g.853023T>C | CA402914951 | ELANE | c.215T>C (p.Val72Ala)
| gnomAD v4 |
19 | g.853023T>G | CA402914953 | ELANE | c.215T>G (p.Val72Gly)
| |
19 | g.853024G>A | CA504684803 | ELANE | c.216G>A (p.Val72=)
| gnomAD v4 |
19 | g.853024G>C | CA504684805 | ELANE | c.216G>C (p.Val72=)
| |
19 | g.853024G>T | CA504684807 | ELANE | c.216G>T (p.Val72=)
| gnomAD v4 |
19 | g.853025G>A | CA9025950 | ELANE | c.217G>A (p.Ala73Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853025G>C | CA402914957 | ELANE | c.217G>C (p.Ala73Pro)
| |
19 | g.853025G= | CA2317359676 | ELANE | c.217G= (p.Ala73=)
| |
19 | g.853025G>T | CA402914959 | ELANE | c.217G>T (p.Ala73Ser)
| gnomAD v4 |
19 | g.853026C>A | CA402914961 | ELANE | c.218C>A (p.Ala73Glu)
| gnomAD v4 |
19 | g.853026C= | CA2317359679 | ELANE | c.218C= (p.Ala73=)
| |
19 | g.853026C>G | CA402914965 | ELANE | c.218C>G (p.Ala73Gly)
| |
19 | g.853026C>T | CA402914962 | ELANE | c.218C>T (p.Ala73Val)
| dbSNP gnomAD v4 COSMIC |
19 | g.853027G>A | CA9025951 | ELANE | c.219G>A (p.Ala73=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853027G>C | CA504684818 | ELANE | c.219G>C (p.Ala73=)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853027G= | CA2317359680 | ELANE | c.219G= (p.Ala73=)
| |
19 | g.853027G>T | CA504684819 | ELANE | c.219G>T (p.Ala73=)
| gnomAD v4 |
19 | g.853028A>C | CA402914970 | ELANE | c.220A>C (p.Asn74His)
| |
19 | g.853028A>G | CA402914972 | ELANE | c.220A>G (p.Asn74Asp)
| gnomAD v4 |
19 | g.853028A>T | CA402914974 | ELANE | c.220A>T (p.Asn74Tyr)
| gnomAD v4 |
19 | g.853029A= | CA2317359683 | ELANE | c.221A= (p.Asn74=)
| |
19 | g.853029A>C | CA303942846 | ELANE | c.221A>C (p.Asn74Thr)
| dbSNP |
19 | g.853029A>G | CA402914979 | ELANE | c.221A>G (p.Asn74Ser)
| |
19 | g.853029A>T | CA402914981 | ELANE | c.221A>T (p.Asn74Ile)
| gnomAD v4 |
19 | g.853030T>A | CA402914985 | ELANE | c.222T>A (p.Asn74Lys)
| |
19 | g.853030T>C | CA9025952 | ELANE | c.222T>C (p.Asn74=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853030T>G | CA402914990 | ELANE | c.222T>G (p.Asn74Lys)
| gnomAD v4 |
19 | g.853030T= | CA2317359685 | ELANE | c.222T= (p.Asn74=)
| |
19 | g.853034_853035dup | CA2587804813 | ELANE | c.224+2_224+3dup
| gnomAD v4 |
19 | g.853030_853031insAC | CA2317359687 | ELANE | c.222_223insAC (p.Val75ThrfsTer2)
| ClinVar dbSNP |
19 | g.853031G>A | CA303942850 | ELANE | c.223G>A (p.Val75Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853031G>C | CA402914996 | ELANE | c.223G>C (p.Val75Leu)
| |
19 | g.853031G= | CA2317359688 | ELANE | c.223G= (p.Val75=)
| |
19 | g.853031G>T | CA402914993 | ELANE | c.223G>T (p.Val75Leu)
| gnomAD v4 |
19 | g.853036_853051del | CA2830782549 | ELANE | c.224+4_224+19del
| |
19 | g.853032T>A | CA402914998 | ELANE | c.224T>A (p.Val75Glu)
| gnomAD v4 |
19 | g.853032T>C | CA402915002 | ELANE | c.224T>C (p.Val75Ala)
| gnomAD v4 |
19 | g.853032T>G | CA402915000 | ELANE | c.224T>G (p.Val75Gly)
| |
19 | g.853033G>A | CA402915007 | ELANE | c.224+1G>A (n.224+1G>A)
| gnomAD v4 |
19 | g.853033G>C | CA402915009 | ELANE | c.224+1G>C (n.224+1G>C)
| |
19 | g.853033G>T | CA402915011 | ELANE | c.224+1G>T (n.224+1G>T)
| gnomAD v4 |
19 | g.853034T>A | CA402915015 | ELANE | c.224+2T>A (n.224+2T>A)
| |
19 | g.853034T>C | CA402915016 | ELANE | c.224+2T>C (n.224+2T>C)
| gnomAD v4 |
19 | g.853034T>G | CA402915018 | ELANE | c.224+2T>G (n.224+2T>G)
| |
19 | g.853035G>A | CA2587804836 | ELANE | c.224+3G>A (n.224+3G>A)
| gnomAD v4 |
19 | g.853035G>T | CA2587804837 | ELANE | c.224+3G>T (n.224+3G>T)
| gnomAD v4 |
19 | g.853036A>G | CA2587804840 | ELANE | c.224+4A>G (n.224+4A>G)
| gnomAD v4 |
19 | g.853036A>T | CA2587804841 | ELANE | c.224+4A>T (n.224+4A>T)
| ClinVar gnomAD v4 |
19 | g.853037G>A | CA2587804842 | ELANE | c.224+5G>A (n.224+5G>A)
| gnomAD v4 |
19 | g.853037G>T | CA2587804843 | ELANE | c.224+5G>T (n.224+5G>T)
| gnomAD v4 |
19 | g.853038del | CA2813226997 | ELANE | c.224+6del (n.224+6del)
| |
19 | g.853038T>A | CA2587804844 | ELANE | c.224+6T>A (n.224+6T>A)
| gnomAD v4 |
19 | g.853038T>C | CA2576540441 | ELANE | c.224+6T>C (n.224+6T>C)
| |
19 | g.853039A= | CA2317359691 | ELANE | c.224+7A= (n.224+7A=)
| |
19 | g.853039A>G | CA631295727 | ELANE | c.224+7A>G (n.224+7A>G)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853039A>T | CA992485833 | ELANE | c.224+7A>T (n.224+7A>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853040G>A | CA2587804846 | ELANE | c.224+8G>A (n.224+8G>A)
| gnomAD v4 |
19 | g.853040G>T | CA2587804845 | ELANE | c.224+8G>T (n.224+8G>T)
| gnomAD v4 |
19 | g.853041C>A | CA2587804848 | ELANE | c.224+9C>A (n.224+9C>A)
| gnomAD v4 |
19 | g.853041C= | CA2317359692 | ELANE | c.224+9C= (n.224+9C=)
| |
19 | g.853041C>G | CA631295731 | ELANE | c.224+9C>G (n.224+9C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.853041C>T | CA2499225644 | ELANE | c.224+9C>T (n.224+9C>T)
| ClinVar dbSNP gnomAD v4 |
19 | g.853042C>A | CA2587804850 | ELANE | c.224+10C>A (n.224+10C>A)
| gnomAD v4 |
19 | g.853042C>G | CA2587804851 | ELANE | c.224+10C>G (n.224+10C>G)
| gnomAD v4 |
19 | g.853042C>T | CA2587804853 | ELANE | c.224+10C>T (n.224+10C>T)
| gnomAD v4 |
19 | g.853043G>A | CA303942853 | ELANE | c.224+11G>A (n.224+11G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853043G>C | CA2587804859 | ELANE | c.224+11G>C (n.224+11G>C)
| gnomAD v4 |
19 | g.853043G= | CA2317359695 | ELANE | c.224+11G= (n.224+11G=)
| |
19 | g.853043G>T | CA2587804860 | ELANE | c.224+11G>T (n.224+11G>T)
| gnomAD v4 |
19 | g.853044G>A | CA2576540442 | ELANE | c.224+12G>A (n.224+12G>A)
| gnomAD v4 |
19 | g.853044G= | CA2317359696 | ELANE | c.224+12G= (n.224+12G=)
| |
19 | g.853044G>T | CA2317359697 | ELANE | c.224+12G>T (n.224+12G>T)
| dbSNP gnomAD v4 |
19 | g.853045G>A | CA9025953 | ELANE | c.224+13G>A (n.224+13G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853045G= | CA2317359699 | ELANE | c.224+13G= (n.224+13G=)
| |
19 | g.853045G>T | CA2587804862 | ELANE | c.224+13G>T (n.224+13G>T)
| gnomAD v4 |
19 | g.853046A= | CA2317359702 | ELANE | c.224+14A= (n.224+14A=)
| |
19 | g.853046A>G | CA9025954 | ELANE | c.224+14A>G (n.224+14A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853047G>A | CA2587804863 | ELANE | c.224+15G>A (n.224+15G>A)
| gnomAD v4 |
19 | g.853047G>C | CA2576540443 | ELANE | c.224+15G>C (n.224+15G>C)
| |
19 | g.853047G>T | CA2587804864 | ELANE | c.224+15G>T (n.224+15G>T)
| gnomAD v4 |
19 | g.853050_853051dup | CA2587804865 | ELANE | c.224+18_224+19dup (n.224+18_224+19dup)
| gnomAD v4 |
19 | g.853048T>C | CA2587804866 | ELANE | c.224+16T>C (n.224+16T>C)
| gnomAD v4 |
19 | g.853048T>G | CA2582306245 | ELANE | c.224+16T>G (n.224+16T>G)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853049G>A | CA2587804867 | ELANE | c.224+17G>A (n.224+17G>A)
| gnomAD v4 |
19 | g.853049G>T | CA2587804868 | ELANE | c.224+17G>T (n.224+17G>T)
| gnomAD v4 |
19 | g.853050T>A | CA2587804869 | ELANE | c.224+18T>A (n.224+18T>A)
| gnomAD v4 |
19 | g.853050T= | CA2317359703 | ELANE | c.224+18T= (n.224+18T=)
| |
19 | g.853051G>A | CA2587804870 | ELANE | c.224+19G>A (n.224+19G>A)
| gnomAD v4 |
19 | g.853051G>C | CA884312974 | ELANE | c.224+19G>C (n.224+19G>C)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853051G= | CA2317359704 | ELANE | c.224+19G= (n.224+19G=)
| |
19 | g.853051G>T | CA2587804871 | ELANE | c.224+19G>T (n.224+19G>T)
| gnomAD v4 |
19 | g.853055_853056dup | CA992485838 | ELANE | c.224+23_224+24dup (n.224+23_224+24dup)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853052C>A | CA2587804872 | ELANE | c.224+20C>A (n.224+20C>A)
| gnomAD v4 |
19 | g.853052C= | CA2317359705 | ELANE | c.224+20C= (n.224+20C=)
| |
19 | g.853052C>G | CA631295732 | ELANE | c.224+20C>G (n.224+20C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853052C>T | CA631295733 | ELANE | c.224+20C>T (n.224+20C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853053G>A | CA2587804873 | ELANE | c.224+21G>A (n.224+21G>A)
| gnomAD v4 |
19 | g.853053G>C | CA303942867 | ELANE | c.224+21G>C (n.224+21G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853053G= | CA2317359708 | ELANE | c.224+21G= (n.224+21G=)
| |
19 | g.853053G>T | CA2587804874 | ELANE | c.224+21G>T (n.224+21G>T)
| gnomAD v4 |
19 | g.853054C>A | CA2587804875 | ELANE | c.224+22C>A (n.224+22C>A)
| gnomAD v4 |
19 | g.853054C= | CA2317359711 | ELANE | c.224+22C= (n.224+22C=)
| |
19 | g.853054C>T | CA631295734 | ELANE | c.224+22C>T (n.224+22C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853055G>A | CA9025955 | ELANE | c.224+23G>A (n.224+23G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853055G>C | CA884312979 | ELANE | c.224+23G>C (n.224+23G>C)
| dbSNP gnomAD v4 |
19 | g.853055G= | CA2317359713 | ELANE | c.224+23G= (n.224+23G=)
| |
19 | g.853055G>T | CA631295735 | ELANE | c.224+23G>T (n.224+23G>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853056C>T | CA2587804876 | ELANE | c.224+24C>T (n.224+24C>T)
| gnomAD v4 |
19 | g.853057C>A | CA631295736 | ELANE | c.224+25C>A (n.224+25C>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853057C= | CA2317359716 | ELANE | c.224+25C= (n.224+25C=)
| |
19 | g.853058C>A | CA303942872 | ELANE | c.224+26C>A (n.224+26C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853058C= | CA2317359717 | ELANE | c.224+26C= (n.224+26C=)
| |
19 | g.853058C>G | CA2735353148 | ELANE | c.224+26C>G (n.224+26C>G)
| dbSNP |
19 | g.853058C>T | CA631295737 | ELANE | c.224+26C>T (n.224+26C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853059G>A | CA884312987 | ELANE | c.224+27G>A (n.224+27G>A)
| dbSNP gnomAD v4 |
19 | g.853059G>C | CA2587804878 | ELANE | c.224+27G>C (n.224+27G>C)
| gnomAD v4 |
19 | g.853059G= | CA2317359719 | ELANE | c.224+27G= (n.224+27G=)
| |
19 | g.853059G>T | CA2587804879 | ELANE | c.224+27G>T (n.224+27G>T)
| gnomAD v4 |
19 | g.853060del | CA2587804877 | ELANE | c.224+28del (n.224+28del)
| gnomAD v4 |
19 | g.853060G>A | CA2587804880 | ELANE | c.224+28G>A (n.224+28G>A)
| gnomAD v4 |
19 | g.853060G>T | CA2587804881 | ELANE | c.224+28G>T (n.224+28G>T)
| gnomAD v4 |
19 | g.853061C>A | CA631295738 | ELANE | c.224+29C>A (n.224+29C>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853061C= | CA2317359720 | ELANE | c.224+29C= (n.224+29C=)
| |
19 | g.853061C>G | CA992485844 | ELANE | c.224+29C>G (n.224+29C>G)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853061C>T | CA2587804882 | ELANE | c.224+29C>T (n.224+29C>T)
| gnomAD v4 |
19 | g.853062T>C | CA2587804883 | ELANE | c.224+30T>C (n.224+30T>C)
| gnomAD v4 |
19 | g.853063C>A | CA2587804884 | ELANE | c.224+31C>A (n.224+31C>A)
| gnomAD v4 |
19 | g.853063C= | CA2317359722 | ELANE | c.224+31C= (n.224+31C=)
| |
19 | g.853063C>G | CA9025956 | ELANE | c.224+31C>G (n.224+31C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853063C>T | CA2587804885 | ELANE | c.224+31C>T (n.224+31C>T)
| gnomAD v4 |
19 | g.853064G>A | CA631295739 | ELANE | c.224+32G>A (n.224+32G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853064G>C | CA2587804886 | ELANE | c.224+32G>C (n.224+32G>C)
| gnomAD v4 |
19 | g.853064G= | CA2317359723 | ELANE | c.224+32G= (n.224+32G=)
| |
19 | g.853064G>T | CA2840056229 | ELANE | c.224+32G>T (n.224+32G>T)
| |
19 | g.853065G>A | CA2587804887 | ELANE | c.224+33G>A (n.224+33G>A)
| gnomAD v4 |
19 | g.853065G= | CA2317359725 | ELANE | c.224+33G= (n.224+33G=)
| |
19 | g.853065G>T | CA9025957 | ELANE | c.224+33G>T (n.224+33G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.853066A= | CA2317359727 | ELANE | c.224+34A= (n.224+34A=)
| |
19 | g.853066A>C | CA992485849 | ELANE | c.224+34A>C (n.224+34A>C)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853066A>G | CA2587804888 | ELANE | c.224+34A>G (n.224+34A>G)
| gnomAD v4 |
19 | g.853067C>A | CA2587804889 | ELANE | c.224+35C>A (n.224+35C>A)
| gnomAD v4 |
19 | g.853067C>G | CA2587804890 | ELANE | c.224+35C>G (n.224+35C>G)
| gnomAD v4 |
19 | g.853067C>T | CA2587804891 | ELANE | c.224+35C>T (n.224+35C>T)
| gnomAD v4 |
19 | g.853068C>A | CA2587804892 | ELANE | c.224+36C>A (n.224+36C>A)
| gnomAD v4 |
19 | g.853068C= | CA2317359728 | ELANE | c.224+36C= (n.224+36C=)
| |
19 | g.853068C>G | CA992485851 | ELANE | c.224+36C>G (n.224+36C>G)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853068C>T | CA2587804893 | ELANE | c.224+36C>T (n.224+36C>T)
| gnomAD v4 |
19 | g.853069C>A | CA2587804895 | ELANE | c.224+37C>A (n.224+37C>A)
| gnomAD v4 |
19 | g.853069C>T | CA2587804894 | ELANE | c.224+37C>T (n.224+37C>T)
| gnomAD v4 |
19 | g.853070C>A | CA2587804896 | ELANE | c.224+38C>A (n.224+38C>A)
| gnomAD v4 |
19 | g.853070C>T | CA2587804897 | ELANE | c.224+38C>T (n.224+38C>T)
| gnomAD v4 |
19 | g.853071G>A | CA631295740 | ELANE | c.224+39G>A (n.224+39G>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853071G>C | CA9025958 | ELANE | c.224+39G>C (n.224+39G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853071G= | CA2317359730 | ELANE | c.224+39G= (n.224+39G=)
| |
19 | g.853071G>T | CA2587804899 | ELANE | c.224+39G>T (n.224+39G>T)
| gnomAD v4 |
19 | g.853071dup | CA2587804898 | ELANE | c.224+39dup (n.224+39dup)
| gnomAD v4 |
19 | g.853072C>A | CA2587804900 | ELANE | c.224+40C>A (n.224+40C>A)
| gnomAD v4 |
19 | g.853072C>T | CA2587804901 | ELANE | c.224+40C>T (n.224+40C>T)
| gnomAD v4 |
19 | g.853073G>A | CA2317359732 | ELANE | c.224+41G>A (n.224+41G>A)
| dbSNP gnomAD v4 |
19 | g.853073G>C | CA303942878 | ELANE | c.224+41G>C (n.224+41G>C)
| dbSNP |
19 | g.853073G= | CA2317359731 | ELANE | c.224+41G= (n.224+41G=)
| |
19 | g.853073G>T | CA2576540444 | ELANE | c.224+41G>T (n.224+41G>T)
| gnomAD v4 |
19 | g.853073_853074delinsGT | CA2317359734 | ELANE | c.224+41_224+42delinsGT (n.224+41_224+42delinsGT)
| |
19 | g.853074del | CA631295741 | ELANE | c.224+42del (n.224+42del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853074T>A | CA2840296508 | ELANE | c.224+42T>A (n.224+42T>A)
| |
19 | g.853074T>C | CA2587804902 | ELANE | c.224+42T>C (n.224+42T>C)
| gnomAD v4 |
19 | g.853074T>G | CA2587804903 | ELANE | c.224+42T>G (n.224+42T>G)
| gnomAD v4 |
19 | g.853074T= | CA2317359735 | ELANE | c.224+42T= (n.224+42T=)
| |
19 | g.853075C>A | CA2587804904 | ELANE | c.224+43C>A (n.224+43C>A)
| gnomAD v4 |
19 | g.853077dup | CA303942887 | ELANE | c.224+45dup (n.224+45dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853076C>A | CA2587804905 | ELANE | c.224+44C>A (n.224+44C>A)
| gnomAD v4 |
19 | g.853077C>A | CA2587804906 | ELANE | c.224+45C>A (n.224+45C>A)
| gnomAD v4 |
19 | g.853077C= | CA2317359736 | ELANE | c.224+45C= (n.224+45C=)
| |
19 | g.853077C>G | CA303942888 | ELANE | c.224+45C>G (n.224+45C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853077C>T | CA631295742 | ELANE | c.224+45C>T (n.224+45C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853078G>A | CA9025959 | ELANE | c.224+46G>A (n.224+46G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853078G= | CA2317359740 | ELANE | c.224+46G= (n.224+46G=)
| |
19 | g.853078G>T | CA992485867 | ELANE | c.224+46G>T (n.224+46G>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853079G>A | CA9025960 | ELANE | c.224+47G>A (n.224+47G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853079G= | CA2317359741 | ELANE | c.224+47G= (n.224+47G=)
| |
19 | g.853079G>T | CA2587804907 | ELANE | c.224+47G>T (n.224+47G>T)
| gnomAD v4 |
19 | g.853080T>C | CA2587804908 | ELANE | c.224+48T>C (n.224+48T>C)
| gnomAD v4 |
19 | g.853080T>G | CA631295743 | ELANE | c.224+48T>G (n.224+48T>G)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853080T= | CA2317359743 | ELANE | c.224+48T= (n.224+48T=)
| |
19 | g.853081C>A | CA2587804909 | ELANE | c.224+49C>A (n.224+49C>A)
| gnomAD v4 |
19 | g.853081C>G | CA2576540445 | ELANE | c.224+49C>G (n.224+49C>G)
| gnomAD v4 |
19 | g.853082T>C | CA2587804910 | ELANE | c.224+50T>C (n.224+50T>C)
| gnomAD v4 |
19 | g.853082T>G | CA2587804911 | ELANE | c.224+50T>G (n.224+50T>G)
| gnomAD v4 |
19 | g.853083G>C | CA2587804912 | ELANE | c.224+51G>C (n.224+51G>C)
| gnomAD v4 |
19 | g.853083G>T | CA2587804913 | ELANE | c.224+51G>T (n.224+51G>T)
| gnomAD v4 |
19 | g.853084T>C | CA2587804914 | ELANE | c.224+52T>C (n.224+52T>C)
| gnomAD v4 |
19 | g.853084T>G | CA992485885 | ELANE | c.224+52T>G (n.224+52T>G)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853084T= | CA2317359745 | ELANE | c.224+52T= (n.224+52T=)
| |
19 | g.853085G>T | CA2587804915 | ELANE | c.224+53G>T (n.224+53G>T)
| gnomAD v4 |
19 | g.853086A= | CA2317359747 | ELANE | c.224+54A= (n.224+54A=)
| |
19 | g.853086A>C | CA2587804916 | ELANE | c.224+54A>C (n.224+54A>C)
| gnomAD v4 |
19 | g.853086A>G | CA2317359748 | ELANE | c.224+54A>G (n.224+54A>G)
| dbSNP gnomAD v4 |
19 | g.853086A>T | CA303942895 | ELANE | c.224+54A>T (n.224+54A>T)
| dbSNP gnomAD v4 |
19 | g.853087G>A | CA631295744 | ELANE | c.224+55G>A (n.224+55G>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.853087G>C | CA992485889 | ELANE | c.224+55G>C (n.224+55G>C)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853087G= | CA2317359749 | ELANE | c.224+55G= (n.224+55G=)
| |
19 | g.853087G>T | CA2587804917 | ELANE | c.224+55G>T (n.224+55G>T)
| gnomAD v4 |
19 | g.853088G>A | CA884313004 | ELANE | c.224+56G>A (n.224+56G>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853088G= | CA2317359751 | ELANE | c.224+56G= (n.224+56G=)
| |
19 | g.853088G>T | CA2741604218 | ELANE | c.224+56G>T (n.224+56G>T)
| |
19 | g.853089T>A | CA2587804918 | ELANE | c.224+57T>A (n.224+57T>A)
| gnomAD v4 |
19 | g.853089T>G | CA992485895 | ELANE | c.224+57T>G (n.224+57T>G)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853089T= | CA2317359753 | ELANE | c.224+57T= (n.224+57T=)
| |
19 | g.853090G>A | CA2587804922 | ELANE | c.224+58G>A (n.224+58G>A)
| gnomAD v4 |
19 | g.853090G>T | CA2587804919 | ELANE | c.224+58G>T (n.224+58G>T)
| gnomAD v4 |
19 | g.853091_853092dup | CA2587804921 | ELANE | c.224+59_224+60dup (n.224+59_224+60dup)
| gnomAD v4 |
19 | g.853092del | CA2587804920 | ELANE | c.224+60del (n.224+60del)
| gnomAD v4 |
19 | g.853092G>A | CA2587804923 | ELANE | c.224+60G>A (n.224+60G>A)
| gnomAD v4 |
19 | g.853092G>C | CA2576540446 | ELANE | c.224+60G>C (n.224+60G>C)
| gnomAD v4 |
19 | g.853092G>T | CA2587804924 | ELANE | c.224+60G>T (n.224+60G>T)
| gnomAD v4 |