| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94381049G>A | CA325638 | SERPINA1 | c.739C>T (p.Arg247Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.[94381049G>A;94383051G>A] | CA353866 | SERPINA1 | c.[187C>T;739C>T] (p.[Arg63Cys;Arg247Cys]) | ClinVar |
| 14 | g.94381049G>C | CA390848816 | SERPINA1 | c.739C>G (p.Arg247Gly) | |
| 14 | g.94381049G= | CA2155953922 | SERPINA1 | c.739C= (p.Arg247=) | |
| 14 | g.94381049G>T | CA265863778 | SERPINA1 | c.739C>A (p.Arg247Ser) | dbSNP gnomAD v4 |
| 14 | g.94381050C>A | CA390848820 | SERPINA1 | c.738G>T (p.Lys246Asn) | |
| 14 | g.94381050C>G | CA390848818 | SERPINA1 | c.738G>C (p.Lys246Asn) | |
| 14 | g.94381050C>T | CA487841072 | SERPINA1 | c.738G>A (p.Lys246=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94381051T>A | CA390848821 | SERPINA1 | c.737A>T (p.Lys246Met) | |
| 14 | g.94381051T>C | CA390848823 | SERPINA1 | c.737A>G (p.Lys246Arg) | |
| 14 | g.94381051T>G | CA348668 | SERPINA1 | c.737A>C (p.Lys246Thr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94381051T= | CA2155953923 | SERPINA1 | c.737A= (p.Lys246=) | |
| 14 | g.94381052T>A | CA390848825 | SERPINA1 | c.736A>T (p.Lys246Ter) | |
| 14 | g.94381052T>C | CA390848827 | SERPINA1 | c.736A>G (p.Lys246Glu) | dbSNP |
| 14 | g.94381052T>G | CA390848829 | SERPINA1 | c.736A>C (p.Lys246Gln) | |
| 14 | g.94381052T= | CA2155953924 | SERPINA1 | c.736A= (p.Lys246=) | |
| 14 | g.94381053C>A | CA390848832 | SERPINA1 | c.735G>T (p.Met245Ile) | |
| 14 | g.94381053C= | CA2155953925 | SERPINA1 | c.735G= (p.Met245=) | |
| 14 | g.94381053C>G | CA390848830 | SERPINA1 | c.735G>C (p.Met245Ile) | |
| 14 | g.94381053C>T | CA350589 | SERPINA1 | c.735G>A (p.Met245Ile) | ClinVar dbSNP COSMIC |
| 14 | g.94381054A= | CA2155953926 | SERPINA1 | c.734T= (p.Met245=) | |
| 14 | g.94381054A>C | CA390848834 | SERPINA1 | c.734T>G (p.Met245Arg) | |
| 14 | g.94381054A>G | CA7327417 | SERPINA1 | c.734T>C (p.Met245Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94381054A>T | CA390848835 | SERPINA1 | c.734T>A (p.Met245Lys) | |
| 14 | g.94381055T>A | CA390848837 | SERPINA1 | c.733A>T (p.Met245Leu) | |
| 14 | g.94381055T>C | CA390848838 | SERPINA1 | c.733A>G (p.Met245Val) | |
| 14 | g.94381055T>G | CA390848840 | SERPINA1 | c.733A>C (p.Met245Leu) | |
| 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=) |