Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
14 | g.94382808G= | CA2155954784 | SERPINA1 | c.430C= (p.Leu144=) c.172C= (p.Leu58=) | |
14 | g.94382808G>T | CA390849944 | SERPINA1 | c.430C>A (p.Leu144Ile) c.172C>A (p.Leu58Ile) | |
14 | g.94382809G>A | CA487841068 | SERPINA1 | c.429C>T (p.Phe143=) c.171C>T (p.Phe57=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382809G>C | CA7327499 | SERPINA1 | c.429C>G (p.Phe143Leu) c.171C>G (p.Phe57Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382809G= | CA2155954785 | SERPINA1 | c.429C= (p.Phe143=) c.171C= (p.Phe57=) | |
14 | g.94382809G>T | CA390849945 | SERPINA1 | c.429C>A (p.Phe143Leu) c.171C>A (p.Phe57Leu) | |
14 | g.94382810A= | CA2155954786 | SERPINA1 | c.428T= (p.Phe143=) c.170T= (p.Phe57=) | |
14 | g.94382810A>C | CA390849948 | SERPINA1 | c.428T>G (p.Phe143Cys) c.170T>G (p.Phe57Cys) | |
14 | g.94382810A>G | CA390849951 | SERPINA1 | c.428T>C (p.Phe143Ser) c.170T>C (p.Phe57Ser) | gnomAD v4 |
14 | g.94382810A>T | CA390849949 | SERPINA1 | c.428T>A (p.Phe143Tyr) c.170T>A (p.Phe57Tyr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382811A>C | CA390849953 | SERPINA1 | c.427T>G (p.Phe143Val) c.169T>G (p.Phe57Val) | |
14 | g.94382811A>G | CA390849954 | SERPINA1 | c.427T>C (p.Phe143Leu) c.169T>C (p.Phe57Leu) | |
14 | g.94382811A>T | CA390849956 | SERPINA1 | c.427T>A (p.Phe143Ile) c.169T>A (p.Phe57Ile) | |
14 | g.94382812C>A | CA487841070 | SERPINA1 | c.426G>T (p.Leu142=) c.168G>T (p.Leu56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382812C= | CA2155954787 | SERPINA1 | c.426G= (p.Leu142=) c.168G= (p.Leu56=) |