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.853129_853131dup | CA2840296510 | ELANE | c.224+97_224+99dup (n.224+97_224+99dup)
| |
19 | g.853128_853131dup | CA2840296509 | ELANE | c.224+96_224+99dup (n.224+96_224+99dup)
| |
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.853129G>A | CA2317359854 | ELANE | c.224+97G>A (n.224+97G>A)
| dbSNP gnomAD v4 |
19 | g.853129G>C | CA992485977 | ELANE | c.224+97G>C (n.224+97G>C)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.853129G= | CA2317359852 | ELANE | c.224+97G= (n.224+97G=)
| |
19 | g.853129G>T | CA631295749 | ELANE | c.224+97G>T (n.224+97G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.853129_853130insA | CA2317359859 | ELANE | c.224+97_224+98insA (n.224+97_224+98insA)
| dbSNP gnomAD v3 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.853132_853134del | CA2813227011 | ELANE | c.224+100_224+102del (n.224+100_224+102del)
| |
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=)
| |