| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382787_94382789del | CA616114859 | SERPINA1 | c.450_452del (p.Val151del) c.192_194del (p.Val65del) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382789A= | CA2155954778 | SERPINA1 | c.449T= (p.Leu150=) c.191T= (p.Leu64=) | |
| 14 | g.94382789A>C | CA390849876 | SERPINA1 | c.449T>G (p.Leu150Arg) c.191T>G (p.Leu64Arg) | |
| 14 | g.94382789A>G | CA390849877 | SERPINA1 | c.449T>C (p.Leu150Pro) c.191T>C (p.Leu64Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382789A>T | CA390849879 | SERPINA1 | c.449T>A (p.Leu150Gln) c.191T>A (p.Leu64Gln) | |
| 14 | g.94382790G>A | CA487841047 | SERPINA1 | c.448C>T (p.Leu150=) c.190C>T (p.Leu64=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382790G>C | CA390849880 | SERPINA1 | c.448C>G (p.Leu150Val) c.190C>G (p.Leu64Val) | |
| 14 | g.94382790G= | CA2155954779 | SERPINA1 | c.448C= (p.Leu150=) c.190C= (p.Leu64=) | |
| 14 | g.94382790G>T | CA390849881 | SERPINA1 | c.448C>A (p.Leu150Ile) c.190C>A (p.Leu64Ile) | |
| 14 | g.94382791C>A | CA390849883 | SERPINA1 | c.447G>T (p.Lys149Asn) c.189G>T (p.Lys63Asn) | |
| 14 | g.94382791C= | CA2155954780 | SERPINA1 | c.447G= (p.Lys149=) c.189G= (p.Lys63=) | |
| 14 | g.94382791C>G | CA390849884 | SERPINA1 | c.447G>C (p.Lys149Asn) c.189G>C (p.Lys63Asn) | |
| 14 | g.94382791C>T | CA7327496 | SERPINA1 | c.447G>A (p.Lys149=) c.189G>A (p.Lys63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382792T>A | CA390849885 | SERPINA1 | c.446A>T (p.Lys149Met) c.188A>T (p.Lys63Met) | |
| 14 | g.94382792T>C | CA390849887 | SERPINA1 | c.446A>G (p.Lys149Arg) c.188A>G (p.Lys63Arg) | |
| 14 | g.94382792T>G | CA390849889 | SERPINA1 | c.446A>C (p.Lys149Thr) c.188A>C (p.Lys63Thr) | |
| 14 | g.94382793T>A | CA390849891 | SERPINA1 | c.445A>T (p.Lys149Ter) c.187A>T (p.Lys63Ter) | |
| 14 | g.94382793T>C | CA390849892 | SERPINA1 | c.445A>G (p.Lys149Glu) c.187A>G (p.Lys63Glu) | |
| 14 | g.94382793T>G | CA390849894 | SERPINA1 | c.445A>C (p.Lys149Gln) c.187A>C (p.Lys63Gln) | |
| 14 | g.94382794C>A | CA487841049 | SERPINA1 | c.444G>T (p.Leu148=) c.186G>T (p.Leu62=) | |
| 14 | g.94382794C>G | CA487841051 | SERPINA1 | c.444G>C (p.Leu148=) c.186G>C (p.Leu62=) | |
| 14 | g.94382794C>T | CA487841052 | SERPINA1 | c.444G>A (p.Leu148=) c.186G>A (p.Leu62=) | gnomAD v4 COSMIC |
| 14 | g.94382795A>C | CA390849895 | SERPINA1 | c.443T>G (p.Leu148Arg) c.185T>G (p.Leu62Arg) | |
| 14 | g.94382795A>G | CA390849897 | SERPINA1 | c.443T>C (p.Leu148Pro) c.185T>C (p.Leu62Pro) | |
| 14 | g.94382795A>T | CA390849899 | SERPINA1 | c.443T>A (p.Leu148Gln) c.185T>A (p.Leu62Gln) | |
| 14 | g.94382796G>A | CA487841053 | SERPINA1 | c.442C>T (p.Leu148=) c.184C>T (p.Leu62=) | |
| 14 | g.94382796G>C | CA390849900 | SERPINA1 | c.442C>G (p.Leu148Val) c.184C>G (p.Leu62Val) | |
| 14 | g.94382796G>T | CA390849902 | SERPINA1 | c.442C>A (p.Leu148Met) c.184C>A (p.Leu62Met) | |
| 14 | g.94382797G>A | CA487841057 | SERPINA1 | c.441C>T (p.Gly147=) c.183C>T (p.Gly61=) | |
| 14 | g.94382797G>C | CA487841056 | SERPINA1 | c.441C>G (p.Gly147=) c.183C>G (p.Gly61=) | ClinVar |
| 14 | g.94382797G>T | CA487841055 | SERPINA1 | c.441C>A (p.Gly147=) c.183C>A (p.Gly61=) | |
| 14 | g.94382798C>A | CA390849904 | SERPINA1 | c.440G>T (p.Gly147Val) c.182G>T (p.Gly61Val) | gnomAD v4 |
| 14 | g.94382798C>G | CA390849905 | SERPINA1 | c.440G>C (p.Gly147Ala) c.182G>C (p.Gly61Ala) | |
| 14 | g.94382798C>T | CA390849906 | SERPINA1 | c.440G>A (p.Gly147Asp) c.182G>A (p.Gly61Asp) | |
| 14 | g.94382799C>A | CA390849907 | SERPINA1 | c.439G>T (p.Gly147Cys) c.181G>T (p.Gly61Cys) | |
| 14 | g.94382799C>G | CA390849909 | SERPINA1 | c.439G>C (p.Gly147Arg) c.181G>C (p.Gly61Arg) | |
| 14 | g.94382799C>T | CA390849911 | SERPINA1 | c.439G>A (p.Gly147Ser) c.181G>A (p.Gly61Ser) | |
| 14 | g.94382800C>A | CA390849912 | SERPINA1 | c.438G>T (p.Glu146Asp) c.180G>T (p.Glu60Asp) | |
| 14 | g.94382800C>G | CA390849914 | SERPINA1 | c.438G>C (p.Glu146Asp) c.180G>C (p.Glu60Asp) | |
| 14 | g.94382800C>T | CA487841058 | SERPINA1 | c.438G>A (p.Glu146=) c.180G>A (p.Glu60=) | |
| 14 | g.94382801T>A | CA390849916 | SERPINA1 | c.437A>T (p.Glu146Val) c.179A>T (p.Glu60Val) | |
| 14 | g.94382801T>C | CA390849917 | SERPINA1 | c.437A>G (p.Glu146Gly) c.179A>G (p.Glu60Gly) | |
| 14 | g.94382801T>G | CA390849919 | SERPINA1 | c.437A>C (p.Glu146Ala) c.179A>C (p.Glu60Ala) | |
| 14 | g.94382802C>A | CA390849921 | SERPINA1 | c.436G>T (p.Glu146Ter) c.178G>T (p.Glu60Ter) | |
| 14 | g.94382802C= | CA2155954781 | SERPINA1 | c.436G= (p.Glu146=) c.178G= (p.Glu60=) | |
| 14 | g.94382802C>G | CA390849922 | SERPINA1 | c.436G>C (p.Glu146Gln) c.178G>C (p.Glu60Gln) | |
| 14 | g.94382802C>T | CA7327497 | SERPINA1 | c.436G>A (p.Glu146Lys) c.178G>A (p.Glu60Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382803G>A | CA265864133 | SERPINA1 | c.435C>T (p.Ser145=) c.177C>T (p.Ser59=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382803G>C | CA390849925 | SERPINA1 | c.435C>G (p.Ser145Arg) c.177C>G (p.Ser59Arg) | |
| 14 | g.94382803G= | CA2155954782 | SERPINA1 | c.435C= (p.Ser145=) c.177C= (p.Ser59=) |