19 | g.853100_853131del | CA2587804927 | ELANE | c.224+68_224+99del (n.224+68_224+99del)
| gnomAD v4 |
19 | g.853116_853144delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC | CA2317359788 | ELANE | c.224+84_224+112delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC (n.224+84_224+112delinsTGCTGGCGGGGGGGGGTCCGTCCAGGGCC)
| |
19 | g.853117_853144del | CA992485949 | ELANE | c.224+85_224+112del (n.224+85_224+112del)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853131dup | CA631295747 | ELANE | c.224+99dup (n.224+99dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853130_853131dup | CA303942957 | ELANE | c.224+98_224+99dup (n.224+98_224+99dup)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853131del | CA303942959 | ELANE | c.224+99del (n.224+99del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.853130_853131del | CA303942964 | ELANE | c.224+98_224+99del (n.224+98_224+99del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853129_853131del | CA2587804962 | ELANE | c.224+97_224+99del (n.224+97_224+99del)
| gnomAD v4 |
19 | g.853130G>A | CA992485980 | ELANE | c.224+98G>A (n.224+98G>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853130G>C | CA2317359862 | ELANE | c.224+98G>C (n.224+98G>C)
| dbSNP gnomAD v4 |
19 | g.853130G= | CA2317359860 | ELANE | c.224+98G= (n.224+98G=)
| |
19 | g.853130G>T | CA2587804965 | ELANE | c.224+98G>T (n.224+98G>T)
| gnomAD v4 |
19 | g.853130_853132delinsGGT | CA2317359863 | ELANE | c.224+98_224+100delinsGGT (n.224+98_224+100delinsGGT)
| |
19 | g.853131G>A | CA303943011 | ELANE | c.224+99G>A (n.224+99G>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853131G>C | CA2587804966 | ELANE | c.224+99G>C (n.224+99G>C)
| gnomAD v4 |
19 | g.853131G= | CA2317359866 | ELANE | c.224+99G= (n.224+99G=)
| |
19 | g.853131G>T | CA631295750 | ELANE | c.224+99G>T (n.224+99G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853131_853132del | CA2317359865 | ELANE | c.224+99_224+100del (n.224+99_224+100del)
| dbSNP |
19 | g.853131_853132delinsGT | CA2317359870 | ELANE | c.224+99_224+100delinsGT (n.224+99_224+100delinsGT)
| |
19 | g.853132del | CA504684827 | ELANE | c.224+100del (n.224+100del)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853132T>A | CA884313054 | ELANE | c.224+100T>A (n.224+100T>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853132T>C | CA2587804967 | ELANE | c.224+100T>C (n.224+100T>C)
| gnomAD v4 |
19 | g.853132T>G | CA303943017 | ELANE | c.224+100T>G (n.224+100T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853132T= | CA2317359873 | ELANE | c.224+100T= (n.224+100T=)
| |
19 | g.853133C>A | CA2587804968 | ELANE | c.224+101C>A (n.224+101C>A)
| gnomAD v4 |
19 | g.853134C>A | CA303943018 | ELANE | c.224+102C>A (n.224+102C>A)
| dbSNP gnomAD v4 |
19 | g.853134C= | CA2317359874 | ELANE | c.224+102C= (n.224+102C=)
| |
19 | g.853134C>T | CA2587804969 | ELANE | c.224+102C>T (n.224+102C>T)
| gnomAD v4 |
19 | g.853135G>A | CA2317359875 | ELANE | c.224+103G>A (n.224+103G>A)
| dbSNP gnomAD v4 |
19 | g.853135G= | CA2317359876 | ELANE | c.224+103G= (n.224+103G=)
| |
19 | g.853135G>T | CA884313056 | ELANE | c.224+103G>T (n.224+103G>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853136T>A | CA2587804970 | ELANE | c.224+104T>A (n.224+104T>A)
| gnomAD v4 |
19 | g.853136T>C | CA631295751 | ELANE | c.224+104T>C (n.224+104T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853136T>G | CA2587804971 | ELANE | c.224+104T>G (n.224+104T>G)
| gnomAD v4 |
19 | g.853136T= | CA2317359877 | ELANE | c.224+104T= (n.224+104T=)
| |
19 | g.853137C>A | CA2587804972 | ELANE | c.224+105C>A (n.224+105C>A)
| gnomAD v4 |
19 | g.853137C= | CA2317359878 | ELANE | c.224+105C= (n.224+105C=)
| |
19 | g.853137C>T | CA2317359879 | ELANE | c.224+105C>T (n.224+105C>T)
| dbSNP |
19 | g.853138C>A | CA2587804973 | ELANE | c.224+106C>A (n.224+106C>A)
| gnomAD v4 |
19 | g.853138C= | CA2317359880 | ELANE | c.224+106C= (n.224+106C=)
| |
19 | g.853138C>G | CA2317359881 | ELANE | c.224+106C>G (n.224+106C>G)
| dbSNP |
19 | g.853139A= | CA2317359882 | ELANE | c.224+107A= (n.224+107A=)
| |
19 | g.853139A>C | CA2587804974 | ELANE | c.224+107A>C (n.224+107A>C)
| gnomAD v4 |
19 | g.853139A>G | CA2317359883 | ELANE | c.224+107A>G (n.224+107A>G)
| dbSNP |
19 | g.853140G= | CA2317359884 | ELANE | c.224+108G= (n.224+108G=)
| |
19 | g.853140G>T | CA303943020 | ELANE | c.224+108G>T (n.224+108G>T)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853144_853203del | CA2587804975 | ELANE | c.224+112_225-59del (n.224+112_225-59del)
| gnomAD v4 |
19 | g.853142G>A | CA2587804976 | ELANE | c.224+110G>A (n.224+110G>A)
| gnomAD v4 |
19 | g.853146_853171del | CA2587804977 | ELANE | c.224+114_225-91del (n.224+114_225-91del)
| gnomAD v4 |
19 | g.853143C>A | CA631295752 | ELANE | c.224+111C>A (n.224+111C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |