19 | g.852818C>A | CA2587804791 | ELANE | c.68-58C>A (n.68-58C>A)
| gnomAD v4 |
19 | g.852818C>T | CA2587804792 | ELANE | c.68-58C>T (n.68-58C>T)
| gnomAD v4 |
19 | g.852819C= | CA2317360006 | ELANE | c.68-57C= (n.68-57C=)
| |
19 | g.852819C>T | CA2317360007 | ELANE | c.68-57C>T (n.68-57C>T)
| dbSNP gnomAD v4 |
19 | g.852820G>A | CA303942600 | ELANE | c.68-56G>A (n.68-56G>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852820G>C | CA303942601 | ELANE | c.68-56G>C (n.68-56G>C)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852820G= | CA2317360010 | ELANE | c.68-56G= (n.68-56G=)
| |
19 | g.852820G>T | CA2587804793 | ELANE | c.68-56G>T (n.68-56G>T)
| gnomAD v4 |
19 | g.852821G>A | CA2587804794 | ELANE | c.68-55G>A (n.68-55G>A)
| gnomAD v4 |
19 | g.852822G>A | CA2587804795 | ELANE | c.68-54G>A (n.68-54G>A)
| gnomAD v4 |
19 | g.852822G>T | CA2587804796 | ELANE | c.68-54G>T (n.68-54G>T)
| gnomAD v4 |
19 | g.852823A>C | CA2587804797 | ELANE | c.68-53A>C (n.68-53A>C)
| gnomAD v4 |
19 | g.852824G>A | CA2587804799 | ELANE | c.68-52G>A (n.68-52G>A)
| dbSNP gnomAD v4 |
19 | g.852824G>T | CA2587804798 | ELANE | c.68-52G>T (n.68-52G>T)
| gnomAD v4 |
19 | g.852825G>A | CA2587804800 | ELANE | c.68-51G>A (n.68-51G>A)
| gnomAD v4 |
19 | g.852825G>C | CA2576540438 | ELANE | c.68-51G>C (n.68-51G>C)
| |
19 | g.852825G>T | CA2587804801 | ELANE | c.68-51G>T (n.68-51G>T)
| gnomAD v4 |
19 | g.852826G>A | CA2576540439 | ELANE | c.68-50G>A (n.68-50G>A)
| gnomAD v4 |
19 | g.852826G>C | CA9025918 | ELANE | c.68-50G>C (n.68-50G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852826G= | CA2317360012 | ELANE | c.68-50G= (n.68-50G=)
| |
19 | g.852826G>T | CA2587804802 | ELANE | c.68-50G>T (n.68-50G>T)
| gnomAD v4 |
19 | g.852827G>A | CA2587804803 | ELANE | c.68-49G>A (n.68-49G>A)
| gnomAD v4 |
19 | g.852827G>T | CA2521499114 | ELANE | c.68-49G>T (n.68-49G>T)
| gnomAD v4 |
19 | g.852828A>G | CA2587804804 | ELANE | c.68-48A>G (n.68-48A>G)
| gnomAD v4 |
19 | g.852829C= | CA2317360014 | ELANE | c.68-47C= (n.68-47C=)
| |
19 | g.852829C>G | CA2587804805 | ELANE | c.68-47C>G (n.68-47C>G)
| gnomAD v4 |
19 | g.852829C>T | CA303942637 | ELANE | c.68-47C>T (n.68-47C>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852830A>G | CA2587804806 | ELANE | c.68-46A>G (n.68-46A>G)
| gnomAD v4 |
19 | g.852830A>T | CA2587804807 | ELANE | c.68-46A>T (n.68-46A>T)
| gnomAD v4 |
19 | g.852831G>T | CA2587804808 | ELANE | c.68-45G>T (n.68-45G>T)
| gnomAD v4 |
19 | g.852832G>A | CA2587804809 | ELANE | c.68-44G>A (n.68-44G>A)
| gnomAD v4 |
19 | g.852832G>C | CA2587804810 | ELANE | c.68-44G>C (n.68-44G>C)
| gnomAD v4 |
19 | g.852832G>T | CA2587804811 | ELANE | c.68-44G>T (n.68-44G>T)
| gnomAD v4 |
19 | g.852833C>A | CA2587804812 | ELANE | c.68-43C>A (n.68-43C>A)
| gnomAD v4 |
19 | g.852833C= | CA2317360015 | ELANE | c.68-43C= (n.68-43C=)
| |
19 | g.852833C>T | CA631295689 | ELANE | c.68-43C>T (n.68-43C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852834T>C | CA631295690 | ELANE | c.68-42T>C (n.68-42T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852834T= | CA2317360017 | ELANE | c.68-42T= (n.68-42T=)
| |
19 | g.852835C>A | CA303942640 | ELANE | c.68-41C>A (n.68-41C>A)
| dbSNP gnomAD v4 |
19 | g.852835C= | CA2317360019 | ELANE | c.68-41C= (n.68-41C=)
| |
19 | g.852835C>G | CA2587804814 | ELANE | c.68-41C>G (n.68-41C>G)
| gnomAD v4 |
19 | g.852836C>A | CA2587804815 | ELANE | c.68-40C>A (n.68-40C>A)
| gnomAD v4 |
19 | g.852836C= | CA2317360021 | ELANE | c.68-40C= (n.68-40C=)
| |
19 | g.852836C>T | CA884312628 | ELANE | c.68-40C>T (n.68-40C>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852837T>C | CA631295691 | ELANE | c.68-39T>C (n.68-39T>C)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852837T= | CA2317360022 | ELANE | c.68-39T= (n.68-39T=)
| |
19 | g.852839G>A | CA2587804816 | ELANE | c.68-37G>A (n.68-37G>A)
| gnomAD v4 |
19 | g.852839G>T | CA2587804817 | ELANE | c.68-37G>T (n.68-37G>T)
| gnomAD v4 |
19 | g.852840G>A | CA9025919 | ELANE | c.68-36G>A (n.68-36G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852840G>C | CA2587804819 | ELANE | c.68-36G>C (n.68-36G>C)
| gnomAD v4 |
19 | g.852840G= | CA2317360024 | ELANE | c.68-36G= (n.68-36G=)
| |
19 | g.852840G>T | CA2587804818 | ELANE | c.68-36G>T (n.68-36G>T)
| gnomAD v4 |
19 | g.852841C>T | CA2587804820 | ELANE | c.68-35C>T (n.68-35C>T)
| gnomAD v4 |
19 | g.852842A= | CA2317360026 | ELANE | c.68-34A= (n.68-34A=)
| |
19 | g.852842A>G | CA2317360027 | ELANE | c.68-34A>G (n.68-34A>G)
| dbSNP gnomAD v4 |
19 | g.852842A>T | CA2587804821 | ELANE | c.68-34A>T (n.68-34A>T)
| gnomAD v4 |
19 | g.852843G>T | CA2587804822 | ELANE | c.68-33G>T (n.68-33G>T)
| gnomAD v4 |
19 | g.852844G>A | CA2587804823 | ELANE | c.68-32G>A (n.68-32G>A)
| gnomAD v4 |
19 | g.852844G>T | CA2587804824 | ELANE | c.68-32G>T (n.68-32G>T)
| gnomAD v4 |
19 | g.852845C= | CA2317360028 | ELANE | c.68-31C= (n.68-31C=)
| |
19 | g.852845C>T | CA992485751 | ELANE | c.68-31C>T (n.68-31C>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.852847C>A | CA2587804825 | ELANE | c.68-29C>A (n.68-29C>A)
| gnomAD v4 |
19 | g.852847C= | CA2317360030 | ELANE | c.68-29C= (n.68-29C=)
| |
19 | g.852847C>T | CA303942656 | ELANE | c.68-29C>T (n.68-29C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852849C>A | CA2587804826 | ELANE | c.68-27C>A (n.68-27C>A)
| gnomAD v4 |
19 | g.852849C>G | CA2587804827 | ELANE | c.68-27C>G (n.68-27C>G)
| gnomAD v4 |
19 | g.852849C>T | CA2587804828 | ELANE | c.68-27C>T (n.68-27C>T)
| gnomAD v4 |
19 | g.852850A>G | CA2587804829 | ELANE | c.68-26A>G (n.68-26A>G)
| gnomAD v4 |
19 | g.852851G>A | CA303942660 | ELANE | c.68-25G>A (n.68-25G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852851G= | CA2317360031 | ELANE | c.68-25G= (n.68-25G=)
| |
19 | g.852851G>T | CA9025920 | ELANE | c.68-25G>T (n.68-25G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852852C>T | CA2587804830 | ELANE | c.68-24C>T (n.68-24C>T)
| gnomAD v4 |
19 | g.852854C= | CA2317360033 | ELANE | c.68-22C= (n.68-22C=)
| |
19 | g.852854C>G | CA2587804831 | ELANE | c.68-22C>G (n.68-22C>G)
| gnomAD v4 |
19 | g.852854C>T | CA631295692 | ELANE | c.68-22C>T (n.68-22C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852855C= | CA2317360035 | ELANE | c.68-21C= (n.68-21C=)
| |
19 | g.852855C>T | CA9025921 | ELANE | c.68-21C>T (n.68-21C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852856C>A | CA2587804832 | ELANE | c.68-20C>A (n.68-20C>A)
| gnomAD v4 |
19 | g.852856C= | CA2317360038 | ELANE | c.68-20C= (n.68-20C=)
| |
19 | g.852856C>G | CA2317360039 | ELANE | c.68-20C>G (n.68-20C>G)
| dbSNP |
19 | g.852856C>T | CA631295693 | ELANE | c.68-20C>T (n.68-20C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852857G>A | CA9025922 | ELANE | c.68-19G>A (n.68-19G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852857G>C | CA2576540440 | ELANE | c.68-19G>C (n.68-19G>C)
| |
19 | g.852857G= | CA2317360041 | ELANE | c.68-19G= (n.68-19G=)
| |
19 | g.852857G>T | CA2587804833 | ELANE | c.68-19G>T (n.68-19G>T)
| gnomAD v4 |
19 | g.852858C>G | CA2587804834 | ELANE | c.68-18C>G (n.68-18C>G)
| gnomAD v4 |
19 | g.852859A= | CA2317360043 | ELANE | c.68-17A= (n.68-17A=)
| |
19 | g.852859A>G | CA884312643 | ELANE | c.68-17A>G (n.68-17A>G)
| dbSNP |
19 | g.852859A>T | CA2587804835 | ELANE | c.68-17A>T (n.68-17A>T)
| gnomAD v4 |
19 | g.852860C>A | CA9025923 | ELANE | c.68-16C>A (n.68-16C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852860C= | CA2317360045 | ELANE | c.68-16C= (n.68-16C=)
| |
19 | g.852860C>G | CA2587804838 | ELANE | c.68-16C>G (n.68-16C>G)
| gnomAD v4 |
19 | g.852860C>T | CA2587804839 | ELANE | c.68-16C>T (n.68-16C>T)
| gnomAD v4 |
19 | g.852861C>A | CA9025924 | ELANE | c.68-15C>A (n.68-15C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852861C= | CA2317360048 | ELANE | c.68-15C= (n.68-15C=)
| |
19 | g.852861C>G | CA884312654 | ELANE | c.68-15C>G (n.68-15C>G)
| dbSNP |
19 | g.852861C>T | CA9025925 | ELANE | c.68-15C>T (n.68-15C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852862C= | CA2317360050 | ELANE | c.68-14C= (n.68-14C=)
| |
19 | g.852862C>G | CA884312657 | ELANE | c.68-14C>G (n.68-14C>G)
| dbSNP |
19 | g.852862C>T | CA2580096956 | ELANE | c.68-14C>T (n.68-14C>T)
| ClinVar gnomAD v4 |
19 | g.852863G>A | CA9025926 | ELANE | c.68-13G>A (n.68-13G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852863G= | CA2317360052 | ELANE | c.68-13G= (n.68-13G=)
| |
19 | g.852863G>T | CA2587804847 | ELANE | c.68-13G>T (n.68-13G>T)
| gnomAD v4 |
19 | g.852864G>A | CA657480001 | ELANE | c.68-12G>A (n.68-12G>A)
| COSMIC |
19 | g.852864G>C | CA631295694 | ELANE | c.68-12G>C (n.68-12G>C)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852864G= | CA2317360055 | ELANE | c.68-12G= (n.68-12G=)
| |
19 | g.852864G>T | CA645373216 | ELANE | c.68-12G>T (n.68-12G>T)
| ClinVar dbSNP gnomAD v4 |
19 | g.852865T>C | CA2587804849 | ELANE | c.68-11T>C (n.68-11T>C)
| gnomAD v4 |
19 | g.852866G>A | CA631295695 | ELANE | c.68-10G>A (n.68-10G>A)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852866G= | CA2317360057 | ELANE | c.68-10G= (n.68-10G=)
| |
19 | g.852866G>T | CA2587804852 | ELANE | c.68-10G>T (n.68-10G>T)
| gnomAD v4 |
19 | g.852867T>C | CA2587804854 | ELANE | c.68-9T>C (n.68-9T>C)
| gnomAD v4 |
19 | g.852868G>A | CA2587804855 | ELANE | c.68-8G>A (n.68-8G>A)
| gnomAD v4 |
19 | g.852868G>T | CA2587804856 | ELANE | c.68-8G>T (n.68-8G>T)
| gnomAD v4 |
19 | g.852870C>A | CA2587804857 | ELANE | c.68-6C>A (n.68-6C>A)
| gnomAD v4 |
19 | g.852870C>T | CA2587804858 | ELANE | c.68-6C>T (n.68-6C>T)
| gnomAD v4 |
19 | g.852871C>A | CA2317360060 | ELANE | c.68-5C>A (n.68-5C>A)
| ClinVar dbSNP gnomAD v4 |
19 | g.852871C= | CA2317360059 | ELANE | c.68-5C= (n.68-5C=)
| |
19 | g.852871C>T | CA303942704 | ELANE | c.68-5C>T (n.68-5C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852873C>T | CA2587804861 | ELANE | c.68-3C>T (n.68-3C>T)
| gnomAD v4 |
19 | g.852874A>C | CA402914277 | ELANE | c.68-2A>C (n.68-2A>C)
| |
19 | g.852874A>G | CA402914279 | ELANE | c.68-2A>G (n.68-2A>G)
| gnomAD v4 |
19 | g.852874A>T | CA402914278 | ELANE | c.68-2A>T (n.68-2A>T)
| |
19 | g.852875G>A | CA402914280 | ELANE | c.68-1G>A (n.68-1G>A)
| gnomAD v4 |
19 | g.852875G>C | CA402914281 | ELANE | c.68-1G>C (n.68-1G>C)
| |
19 | g.852875G>T | CA402914282 | ELANE | c.68-1G>T (n.68-1G>T)
| gnomAD v4 |
19 | g.852876G>A | CA402914283 | ELANE | c.68G>A (p.Gly23Asp)
| ClinVar dbSNP gnomAD v4 |
19 | g.852876G>C | CA402914284 | ELANE | c.68G>C (p.Gly23Ala)
| |
19 | g.852876G>T | CA402914285 | ELANE | c.68G>T (p.Gly23Val)
| gnomAD v4 |
19 | g.852877C>A | CA504684585 | ELANE | c.69C>A (p.Gly23=)
| |
19 | g.852877C>G | CA504684586 | ELANE | c.69C>G (p.Gly23=)
| |
19 | g.852877C>T | CA504684588 | ELANE | c.69C>T (p.Gly23=)
| |
19 | g.852878A= | CA2317360061 | ELANE | c.70A= (p.Thr24=)
| |
19 | g.852878A>C | CA9025927 | ELANE | c.70A>C (p.Thr24Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852878A>G | CA402914286 | ELANE | c.70A>G (p.Thr24Ala)
| |
19 | g.852878A>T | CA402914287 | ELANE | c.70A>T (p.Thr24Ser)
| |
19 | g.852879C>A | CA402914288 | ELANE | c.71C>A (p.Thr24Asn)
| gnomAD v4 |
19 | g.852879C>G | CA402914289 | ELANE | c.71C>G (p.Thr24Ser)
| |
19 | g.852879C>T | CA402914290 | ELANE | c.71C>T (p.Thr24Ile)
| gnomAD v4 |
19 | g.852880C>A | CA504684596 | ELANE | c.72C>A (p.Thr24=)
| gnomAD v4 |
19 | g.852880C>G | CA504684598 | ELANE | c.72C>G (p.Thr24=)
| |
19 | g.852880C>T | CA504684600 | ELANE | c.72C>T (p.Thr24=)
| gnomAD v4 |
19 | g.852881G>A | CA402914293 | ELANE | c.73G>A (p.Ala25Thr)
| ClinVar gnomAD v4 |
19 | g.852881G>C | CA402914292 | ELANE | c.73G>C (p.Ala25Pro)
| |
19 | g.852881G>T | CA402914291 | ELANE | c.73G>T (p.Ala25Ser)
| gnomAD v4 |
19 | g.852882C>A | CA402914294 | ELANE | c.74C>A (p.Ala25Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.852882C= | CA2317360063 | ELANE | c.74C= (p.Ala25=)
| |
19 | g.852882C>G | CA402914296 | ELANE | c.74C>G (p.Ala25Gly)
| |
19 | g.852882C>T | CA402914297 | ELANE | c.74C>T (p.Ala25Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.852883G>A | CA9025928 | ELANE | c.75G>A (p.Ala25=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852883G>C | CA504684606 | ELANE | c.75G>C (p.Ala25=)
| |
19 | g.852883G= | CA2317360065 | ELANE | c.75G= (p.Ala25=)
| |
19 | g.852883G>T | CA504684607 | ELANE | c.75G>T (p.Ala25=)
| gnomAD v4 |
19 | g.852884C>A | CA402914300 | ELANE | c.76C>A (p.Leu26Met)
| |
19 | g.852884C>G | CA402914301 | ELANE | c.76C>G (p.Leu26Val)
| |
19 | g.852884C>T | CA504684609 | ELANE | c.76C>T (p.Leu26=)
| |
19 | g.852885T>A | CA402914303 | ELANE | c.77T>A (p.Leu26Gln)
| |
19 | g.852885T>C | CA10583959 | ELANE | c.77T>C (p.Leu26Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.852885T>G | CA402914305 | ELANE | c.77T>G (p.Leu26Arg)
| |
19 | g.852885T= | CA2317360067 | ELANE | c.77T= (p.Leu26=)
| |
19 | g.852886G>A | CA504684610 | ELANE | c.78G>A (p.Leu26=)
| |
19 | g.852886G>C | CA504684611 | ELANE | c.78G>C (p.Leu26=)
| |
19 | g.852886G>T | CA504684612 | ELANE | c.78G>T (p.Leu26=)
| gnomAD v4 |
19 | g.852887G>A | CA402914306 | ELANE | c.79G>A (p.Ala27Thr)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852887G>C | CA402914307 | ELANE | c.79G>C (p.Ala27Pro)
| |
19 | g.852887G= | CA2317360069 | ELANE | c.79G= (p.Ala27=)
| |
19 | g.852887G>T | CA402914309 | ELANE | c.79G>T (p.Ala27Ser)
| gnomAD v4 |
19 | g.852888C>A | CA402914314 | ELANE | c.80C>A (p.Ala27Asp)
| ClinVar gnomAD v4 |
19 | g.852888C>G | CA402914311 | ELANE | c.80C>G (p.Ala27Gly)
| |
19 | g.852888C>T | CA402914312 | ELANE | c.80C>T (p.Ala27Val)
| gnomAD v4 COSMIC |
19 | g.852889C>A | CA504684615 | ELANE | c.81C>A (p.Ala27=)
| |
19 | g.852889C>G | CA504684616 | ELANE | c.81C>G (p.Ala27=)
| |
19 | g.852889C>T | CA504684617 | ELANE | c.81C>T (p.Ala27=)
| ClinVar dbSNP gnomAD v4 |
19 | g.852890T>A | CA402914315 | ELANE | c.82T>A (p.Ser28Thr)
| |
19 | g.852890T>C | CA402914319 | ELANE | c.82T>C (p.Ser28Pro)
| |
19 | g.852890T>G | CA402914317 | ELANE | c.82T>G (p.Ser28Ala)
| |
19 | g.852891C>A | CA402914321 | ELANE | c.83C>A (p.Ser28Ter)
| gnomAD v4 |
19 | g.852891C= | CA2317360070 | ELANE | c.83C= (p.Ser28=)
| |
19 | g.852891C>G | CA402914323 | ELANE | c.83C>G (p.Ser28Trp)
| |
19 | g.852891C>T | CA402914322 | ELANE | c.83C>T (p.Ser28Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.852892G>A | CA504684622 | ELANE | c.84G>A (p.Ser28=)
| gnomAD v4 |
19 | g.852892G>C | CA504684623 | ELANE | c.84G>C (p.Ser28=)
| |
19 | g.852892G>T | CA504684624 | ELANE | c.84G>T (p.Ser28=)
| gnomAD v4 |
19 | g.852893G>A | CA402914325 | ELANE | c.85G>A (p.Glu29Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.852893G>C | CA402914329 | ELANE | c.85G>C (p.Glu29Gln)
| |
19 | g.852893G= | CA2317360072 | ELANE | c.85G= (p.Glu29=)
| |
19 | g.852893G>T | CA402914327 | ELANE | c.85G>T (p.Glu29Ter)
| gnomAD v4 |
19 | g.852894A>C | CA402914330 | ELANE | c.86A>C (p.Glu29Ala)
| |
19 | g.852894A>G | CA402914333 | ELANE | c.86A>G (p.Glu29Gly)
| gnomAD v4 |
19 | g.852894A>T | CA402914331 | ELANE | c.86A>T (p.Glu29Val)
| |
19 | g.852895G>A | CA504684625 | ELANE | c.87G>A (p.Glu29=)
| |
19 | g.852895G>C | CA402914335 | ELANE | c.87G>C (p.Glu29Asp)
| |
19 | g.852895G= | CA2317360073 | ELANE | c.87G= (p.Glu29=)
| |
19 | g.852895G>T | CA402914337 | ELANE | c.87G>T (p.Glu29Asp)
| dbSNP gnomAD v4 |
19 | g.852896A>C | CA402914338 | ELANE | c.88A>C (p.Ile30Leu)
| |
19 | g.852896A>G | CA402914340 | ELANE | c.88A>G (p.Ile30Val)
| |
19 | g.852896A>T | CA402914341 | ELANE | c.88A>T (p.Ile30Phe)
| |
19 | g.852897T>A | CA402914343 | ELANE | c.89T>A (p.Ile30Asn)
| |
19 | g.852897T>C | CA402914344 | ELANE | c.89T>C (p.Ile30Thr)
| gnomAD v4 |
19 | g.852897T>G | CA402914345 | ELANE | c.89T>G (p.Ile30Ser)
| |
19 | g.852898T>A | CA504684627 | ELANE | c.90T>A (p.Ile30=)
| |
19 | g.852898T>C | CA504684629 | ELANE | c.90T>C (p.Ile30=)
| gnomAD v4 |
19 | g.852898T>G | CA402914347 | ELANE | c.90T>G (p.Ile30Met)
| ClinVar dbSNP |
19 | g.852898T= | CA2317360075 | ELANE | c.90T= (p.Ile30=)
| |
19 | g.852899del | CA2580096957 | ELANE | c.91del (p.Val31TrpfsTer29)
| ClinVar dbSNP gnomAD v4 |
19 | g.852899G>A | CA402914349 | ELANE | c.91G>A (p.Val31Met)
| ClinVar dbSNP gnomAD v2 |
19 | g.852899G>C | CA402914350 | ELANE | c.91G>C (p.Val31Leu)
| |
19 | g.852899G>T | CA402914351 | ELANE | c.91G>T (p.Val31Leu)
| gnomAD v4 |
19 | g.852899_852900delinsGT | CA2317360076 | ELANE | c.91_92delinsGT (p.Val31=)
| |
19 | g.852900del | CA631295696 | ELANE | c.92del (p.Val31GlyfsTer29)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852900T>A | CA402914352 | ELANE | c.92T>A (p.Val31Glu)
| |
19 | g.852900T>C | CA402914353 | ELANE | c.92T>C (p.Val31Ala)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852900T>G | CA402914354 | ELANE | c.92T>G (p.Val31Gly)
| |
19 | g.852900T= | CA2317360078 | ELANE | c.92T= (p.Val31=)
| |
19 | g.852901G>A | CA504684634 | ELANE | c.93G>A (p.Val31=)
| dbSNP gnomAD v4 |
19 | g.852901G>C | CA504684635 | ELANE | c.93G>C (p.Val31=)
| gnomAD v4 |
19 | g.852901G= | CA2317360081 | ELANE | c.93G= (p.Val31=)
| |
19 | g.852901G>T | CA303942719 | ELANE | c.93G>T (p.Val31=)
| ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.852906dup | CA504684637 | ELANE | c.98dup (p.Arg34ProfsTer?)
| gnomAD v4 COSMIC |
19 | g.852906del | CA645613900 | ELANE | c.98del (p.Gly33AlafsTer27)
| ClinVar gnomAD v4 COSMIC |
19 | g.852902G>A | CA402914356 | ELANE | c.94G>A (p.Gly32Arg)
| |
19 | g.852902G>C | CA9025929 | ELANE | c.94G>C (p.Gly32Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852902G= | CA2317360082 | ELANE | c.94G= (p.Gly32=)
| |
19 | g.852902G>T | CA402914358 | ELANE | c.94G>T (p.Gly32Trp)
| gnomAD v4 |
19 | g.852903G>A | CA402914359 | ELANE | c.95G>A (p.Gly32Glu)
| gnomAD v4 |
19 | g.852903G>C | CA402914361 | ELANE | c.95G>C (p.Gly32Ala)
| |
19 | g.852903G>T | CA402914363 | ELANE | c.95G>T (p.Gly32Val)
| gnomAD v4 |
19 | g.852904G>A | CA9025930 | ELANE | c.96G>A (p.Gly32=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852904G>C | CA9025931 | ELANE | c.96G>C (p.Gly32=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852904G= | CA2317360084 | ELANE | c.96G= (p.Gly32=)
| |
19 | g.852904G>T | CA504684644 | ELANE | c.96G>T (p.Gly32=)
| gnomAD v4 |
19 | g.852905G>A | CA402914366 | ELANE | c.97G>A (p.Gly33Ser)
| gnomAD v4 |
19 | g.852905G>C | CA402914367 | ELANE | c.97G>C (p.Gly33Arg)
| |
19 | g.852905G>T | CA402914369 | ELANE | c.97G>T (p.Gly33Cys)
| gnomAD v4 |
19 | g.852906G>A | CA9025932 | ELANE | c.98G>A (p.Gly33Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.852906G>C | CA402914372 | ELANE | c.98G>C (p.Gly33Ala)
| |
19 | g.852906G= | CA2317360086 | ELANE | c.98G= (p.Gly33=)
| |
19 | g.852906G>T | CA402914373 | ELANE | c.98G>T (p.Gly33Val)
| gnomAD v4 |
19 | g.852907C>A | CA504684645 | ELANE | c.99C>A (p.Gly33=)
| |
19 | g.852907C= | CA2317360088 | ELANE | c.99C= (p.Gly33=)
| |
19 | g.852907C>G | CA504684646 | ELANE | c.99C>G (p.Gly33=)
| gnomAD v4 |
19 | g.852907C>T | CA9025933 | ELANE | c.99C>T (p.Gly33=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852908C>A | CA504684647 | ELANE | c.100C>A (p.Arg34=)
| gnomAD v4 |
19 | g.852908C= | CA2317360090 | ELANE | c.100C= (p.Arg34=)
| |
19 | g.852908C>G | CA402914376 | ELANE | c.100C>G (p.Arg34Gly)
| |
19 | g.852908C>T | CA9025934 | ELANE | c.100C>T (p.Arg34Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852909G>A | CA402914379 | ELANE | c.101G>A (p.Arg34Gln)
| gnomAD v4 |
19 | g.852909G>C | CA402914380 | ELANE | c.101G>C (p.Arg34Pro)
| |
19 | g.852909G>T | CA402914381 | ELANE | c.101G>T (p.Arg34Leu)
| ClinVar gnomAD v4 |
19 | g.852910G>A | CA504684650 | ELANE | c.102G>A (p.Arg34=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852910G>C | CA504684651 | ELANE | c.102G>C (p.Arg34=)
| |
19 | g.852910G= | CA2317360092 | ELANE | c.102G= (p.Arg34=)
| |
19 | g.852910G>T | CA504684652 | ELANE | c.102G>T (p.Arg34=)
| ClinVar dbSNP gnomAD v4 |
19 | g.852911C>A | CA504684653 | ELANE | c.103C>A (p.Arg35=)
| gnomAD v4 |
19 | g.852911C= | CA2317360093 | ELANE | c.103C= (p.Arg35=)
| |
19 | g.852911C>G | CA402914383 | ELANE | c.103C>G (p.Arg35Gly)
| gnomAD v4 |
19 | g.852911C>T | CA9025935 | ELANE | c.103C>T (p.Arg35Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852912G>A | CA9025936 | ELANE | c.104G>A (p.Arg35Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852912G>C | CA402914386 | ELANE | c.104G>C (p.Arg35Pro)
| |
19 | g.852912G= | CA2317360095 | ELANE | c.104G= (p.Arg35=)
| |
19 | g.852912G>T | CA402914387 | ELANE | c.104G>T (p.Arg35Leu)
| gnomAD v4 |
19 | g.852913A>C | CA504684657 | ELANE | c.105A>C (p.Arg35=)
| |
19 | g.852913A>G | CA504684658 | ELANE | c.105A>G (p.Arg35=)
| |
19 | g.852913A>T | CA504684659 | ELANE | c.105A>T (p.Arg35=)
| |
19 | g.852914G>A | CA402914390 | ELANE | c.106G>A (p.Ala36Thr)
| |
19 | g.852914G>C | CA402914391 | ELANE | c.106G>C (p.Ala36Pro)
| |
19 | g.852914G>T | CA402914393 | ELANE | c.106G>T (p.Ala36Ser)
| gnomAD v4 |
19 | g.852915C>A | CA402914398 | ELANE | c.107C>A (p.Ala36Glu)
| gnomAD v4 |
19 | g.852915C= | CA2317360096 | ELANE | c.107C= (p.Ala36=)
| |
19 | g.852915C>G | CA402914394 | ELANE | c.107C>G (p.Ala36Gly)
| ClinVar dbSNP gnomAD v4 |
19 | g.852915C>T | CA402914396 | ELANE | c.107C>T (p.Ala36Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852916G>A | CA303942762 | ELANE | c.108G>A (p.Ala36=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852916G>C | CA504684663 | ELANE | c.108G>C (p.Ala36=)
| |
19 | g.852916G= | CA2317360103 | ELANE | c.108G= (p.Ala36=)
| |
19 | g.852916G>T | CA504684664 | ELANE | c.108G>T (p.Ala36=)
| dbSNP gnomAD v4 |
19 | g.852917C>A | CA504684665 | ELANE | c.109C>A (p.Arg37=)
| |
19 | g.852917C= | CA2317360105 | ELANE | c.109C= (p.Arg37=)
| |
19 | g.852917C>G | CA402914400 | ELANE | c.109C>G (p.Arg37Gly)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.852917C>T | CA402914402 | ELANE | c.109C>T (p.Arg37Trp)
| gnomAD v4 |
19 | g.852918G>A | CA9025937 | ELANE | c.110G>A (p.Arg37Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.852918G>C | CA402914405 | ELANE | c.110G>C (p.Arg37Pro)
| |
19 | g.852918G= | CA2317360106 | ELANE | c.110G= (p.Arg37=)
| |
19 | g.852918G>T | CA402914408 | ELANE | c.110G>T (p.Arg37Leu)
| gnomAD v4 |