Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94381056C>A | CA390848842 | SERPINA1 | c.732G>T (p.Met244Ile) | |
14 | g.94381056C>G | CA390848844 | SERPINA1 | c.732G>C (p.Met244Ile) | gnomAD v4 |
14 | g.94381056C>T | CA390848845 | SERPINA1 | c.732G>A (p.Met244Ile) | COSMIC |
14 | g.94381057A>C | CA390848847 | SERPINA1 | c.731T>G (p.Met244Arg) | |
14 | g.94381057A>G | CA390848849 | SERPINA1 | c.731T>C (p.Met244Thr) | |
14 | g.94381057A>T | CA390848851 | SERPINA1 | c.731T>A (p.Met244Lys) | |
14 | g.94381058T>A | CA390848852 | SERPINA1 | c.730A>T (p.Met244Leu) | |
14 | g.94381058T>C | CA390848856 | SERPINA1 | c.730A>G (p.Met244Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94381058T>G | CA390848854 | SERPINA1 | c.730A>C (p.Met244Leu) | |
14 | g.94381058T= | CA2155953927 | SERPINA1 | c.730A= (p.Met244=) | |
14 | g.94381059A>C | CA487841076 | SERPINA1 | c.729T>G (p.Pro243=) | |
14 | g.94381059A>G | CA487841078 | SERPINA1 | c.729T>C (p.Pro243=) | |
14 | g.94381059A>T | CA487841079 | SERPINA1 | c.729T>A (p.Pro243=) | |
14 | g.94381060G>A | CA390848857 | SERPINA1 | c.728C>T (p.Pro243Leu) | |
14 | g.94381060G>C | CA390848859 | SERPINA1 | c.728C>G (p.Pro243Arg) | |
14 | g.94381060G>T | CA390848861 | SERPINA1 | c.728C>A (p.Pro243His) | |
14 | g.94381061G>A | CA390848863 | SERPINA1 | c.727C>T (p.Pro243Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.94381061G>C | CA390848864 | SERPINA1 | c.727C>G (p.Pro243Ala) | |
14 | g.94381061G= | CA2155953928 | SERPINA1 | c.727C= (p.Pro243=) | |
14 | g.94381061G>T | CA390848866 | SERPINA1 | c.727C>A (p.Pro243Thr) | |
14 | g.94381062C>A | CA487841080 | SERPINA1 | c.726G>T (p.Val242=) | ClinVar dbSNP |
14 | g.94381062C= | CA2155953929 | SERPINA1 | c.726G= (p.Val242=) | |
14 | g.94381062C>G | CA487841082 | SERPINA1 | c.726G>C (p.Val242=) | |
14 | g.94381062C>T | CA487841084 | SERPINA1 | c.726G>A (p.Val242=) | |
14 | g.94381063A= | CA2155953930 | SERPINA1 | c.725T= (p.Val242=) | |
14 | g.94381063A>C | CA390848868 | SERPINA1 | c.725T>G (p.Val242Gly) | |
14 | g.94381063A>G | CA7327418 | SERPINA1 | c.725T>C (p.Val242Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94381063A>T | CA390848870 | SERPINA1 | c.725T>A (p.Val242Glu) | |
14 | g.94381064C>A | CA390848871 | SERPINA1 | c.724G>T (p.Val242Leu) | |
14 | g.94381064C>G | CA390848872 | SERPINA1 | c.724G>C (p.Val242Leu) | |
14 | g.94381064C>T | CA390848873 | SERPINA1 | c.724G>A (p.Val242Met) | |
14 | g.94381065C>A | CA390848875 | SERPINA1 | c.723G>T (p.Lys241Asn) | |
14 | g.94381065C= | CA2155953931 | SERPINA1 | c.723G= (p.Lys241=) | |
14 | g.94381065C>G | CA390848874 | SERPINA1 | c.723G>C (p.Lys241Asn) | |
14 | g.94381065C>T | CA487841088 | SERPINA1 | c.723G>A (p.Lys241=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94381066T>A | CA390848878 | SERPINA1 | c.722A>T (p.Lys241Met) | |
14 | g.94381066T>C | CA390848879 | SERPINA1 | c.722A>G (p.Lys241Arg) | |
14 | g.94381066T>G | CA390848881 | SERPINA1 | c.722A>C (p.Lys241Thr) | |
14 | g.94381067T>A | CA127693 | SERPINA1 | c.721A>T (p.Lys241Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94381067T>C | CA390848883 | SERPINA1 | c.721A>G (p.Lys241Glu) | |
14 | g.94381067T>G | CA390848884 | SERPINA1 | c.721A>C (p.Lys241Gln) | |
14 | g.94381067T= | CA2155953932 | SERPINA1 | c.721A= (p.Lys241=) | |
14 | g.94381068C>A | CA487841090 | SERPINA1 | c.720G>T (p.Val240=) | |
14 | g.94381068C>G | CA487841092 | SERPINA1 | c.720G>C (p.Val240=) | |
14 | g.94381068C>T | CA487841094 | SERPINA1 | c.720G>A (p.Val240=) | |
14 | g.94381069A= | CA2155953933 | SERPINA1 | c.719T= (p.Val240=) | |
14 | g.94381069A>C | CA390848886 | SERPINA1 | c.719T>G (p.Val240Gly) | COSMIC |
14 | g.94381069A>G | CA390848887 | SERPINA1 | c.719T>C (p.Val240Ala) | |
14 | g.94381069A>T | CA390848888 | SERPINA1 | c.719T>A (p.Val240Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94381070C>A | CA390848890 | SERPINA1 | c.718G>T (p.Val240Leu) | dbSNP |