| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 14 | g.94382803G>T | CA265864131 | SERPINA1 | c.435C>A (p.Ser145Arg) c.177C>A (p.Ser59Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382804C>A | CA390849927 | SERPINA1 | c.434G>T (p.Ser145Ile) c.176G>T (p.Ser59Ile) c.434G>T | |
| 14 | g.94382804C= | CA2155954783 | SERPINA1 | c.434G= (p.Ser145=) c.176G= (p.Ser59=) c.434G= | |
| 14 | g.94382804C>G | CA390849928 | SERPINA1 | c.434G>C (p.Ser145Thr) c.176G>C (p.Ser59Thr) c.434G>C | |
| 14 | g.94382804C>T | CA390849930 | SERPINA1 | c.434G>A (p.Ser145Asn) c.176G>A (p.Ser59Asn) c.434G>A | dbSNP gnomAD v4 |
| 14 | g.94382805T>A | CA390849931 | SERPINA1 | c.433A>T (p.Ser145Cys) c.175A>T (p.Ser59Cys) c.433A>T | |
| 14 | g.94382805T>C | CA390849933 | SERPINA1 | c.433A>G (p.Ser145Gly) c.175A>G (p.Ser59Gly) c.433A>G | |
| 14 | g.94382805T>G | CA390849934 | SERPINA1 | c.433A>C (p.Ser145Arg) c.175A>C (p.Ser59Arg) c.433A>C | |
| 14 | g.94382806G>A | CA487841061 | SERPINA1 | c.432C>T (p.Leu144=) c.174C>T (p.Leu58=) | |
| 14 | g.94382806G>C | CA487841062 | SERPINA1 | c.432C>G (p.Leu144=) c.174C>G (p.Leu58=) | |
| 14 | g.94382806G>T | CA487841063 | SERPINA1 | c.432C>A (p.Leu144=) c.174C>A (p.Leu58=) | |
| 14 | g.94382807A>C | CA390849936 | SERPINA1 | c.431T>G (p.Leu144Arg) c.173T>G (p.Leu58Arg) | |
| 14 | g.94382807A>G | CA390849938 | SERPINA1 | c.431T>C (p.Leu144Pro) c.173T>C (p.Leu58Pro) | |
| 14 | g.94382807A>T | CA390849940 | SERPINA1 | c.431T>A (p.Leu144His) c.173T>A (p.Leu58His) | |
| 14 | g.94382808G>A | CA7327498 | SERPINA1 | c.430C>T (p.Leu144Phe) c.172C>T (p.Leu58Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382808G>C | CA390849942 | SERPINA1 | c.430C>G (p.Leu144Val) c.172C>G (p.Leu58Val) |