| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382739_94382769delinsAGGCTTCTGAGTGGTACAACTTTTTAACATC | CA2155954756 | SERPINA1 | c.469_499delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp157=) c.211_241delinsGATGTTAAAAAGTTGTACCACTCAGAAGCCT (p.Asp71=) | |
| 14 | g.94382740_94382769del | CA7327484 | SERPINA1 | c.469_498del (p.Asp157_Ala166del) c.211_240del (p.Asp71_Ala80del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382764A>C | CA487841022 | SERPINA1 | c.474T>G (p.Val158=) c.216T>G (p.Val72=) | |
| 14 | g.94382764A>G | CA487841023 | SERPINA1 | c.474T>C (p.Val158=) c.216T>C (p.Val72=) | |
| 14 | g.94382764A>T | CA487841024 | SERPINA1 | c.474T>A (p.Val158=) c.216T>A (p.Val72=) | |
| 14 | g.94382765A>C | CA390849791 | SERPINA1 | c.473T>G (p.Val158Gly) c.215T>G (p.Val72Gly) | |
| 14 | g.94382765A>G | CA390849787 | SERPINA1 | c.473T>C (p.Val158Ala) c.215T>C (p.Val72Ala) | |
| 14 | g.94382765A>T | CA390849789 | SERPINA1 | c.473T>A (p.Val158Asp) c.215T>A (p.Val72Asp) | |
| 14 | g.94382766C>A | CA7327486 | SERPINA1 | c.472G>T (p.Val158Phe) c.214G>T (p.Val72Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382766C= | CA2155954763 | SERPINA1 | c.472G= (p.Val158=) c.214G= (p.Val72=) | |
| 14 | g.94382766C>G | CA390849792 | SERPINA1 | c.472G>C (p.Val158Leu) c.214G>C (p.Val72Leu) | |
| 14 | g.94382766C>T | CA390849794 | SERPINA1 | c.472G>A (p.Val158Ile) c.214G>A (p.Val72Ile) | gnomAD v4 |
| 14 | g.94382767A= | CA2155954764 | SERPINA1 | c.471T= (p.Asp157=) c.213T= (p.Asp71=) | |
| 14 | g.94382767A>C | CA390849796 | SERPINA1 | c.471T>G (p.Asp157Glu) c.213T>G (p.Asp71Glu) | |
| 14 | g.94382767A>G | CA487841026 | SERPINA1 | c.471T>C (p.Asp157=) c.213T>C (p.Asp71=) | |
| 14 | g.94382767A>T | CA390849798 | SERPINA1 | c.471T>A (p.Asp157Glu) c.213T>A (p.Asp71Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382768T>A | CA390849799 | SERPINA1 | c.470A>T (p.Asp157Val) c.212A>T (p.Asp71Val) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94382768T>C | CA7327487 | SERPINA1 | c.470A>G (p.Asp157Gly) c.212A>G (p.Asp71Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382768T>G | CA390849802 | SERPINA1 | c.470A>C (p.Asp157Ala) c.212A>C (p.Asp71Ala) | |
| 14 | g.94382768T= | CA2155954765 | SERPINA1 | c.470A= (p.Asp157=) c.212A= (p.Asp71=) | |
| 14 | g.94382769C>A | CA390849803 | SERPINA1 | c.469G>T (p.Asp157Tyr) c.211G>T (p.Asp71Tyr) c.469G>T | |
| 14 | g.94382769C= | CA2155954766 | SERPINA1 | c.469G= (p.Asp157=) c.211G= (p.Asp71=) c.469G= | |
| 14 | g.94382769C>G | CA390849805 | SERPINA1 | c.469G>C (p.Asp157His) c.211G>C (p.Asp71His) c.469G>C | |
| 14 | g.94382769C>T | CA390849806 | SERPINA1 | c.469G>A (p.Asp157Asn) c.211G>A (p.Asp71Asn) c.469G>A | ClinVar dbSNP |
| 14 | g.94382770C>A | CA390849807 | SERPINA1 | c.468G>T (p.Glu156Asp) c.210G>T (p.Glu70Asp) | |
| 14 | g.94382770C>G | CA390849809 | SERPINA1 | c.468G>C (p.Glu156Asp) c.210G>C (p.Glu70Asp) | |
| 14 | g.94382770C>T | CA487841030 | SERPINA1 | c.468G>A (p.Glu156=) c.210G>A (p.Glu70=) | |
| 14 | g.94382771T>A | CA390849811 | SERPINA1 | c.467A>T (p.Glu156Val) c.209A>T (p.Glu70Val) | |
| 14 | g.94382771T>C | CA390849812 | SERPINA1 | c.467A>G (p.Glu156Gly) c.209A>G (p.Glu70Gly) | |
| 14 | g.94382771T>G | CA390849814 | SERPINA1 | c.467A>C (p.Glu156Ala) c.209A>C (p.Glu70Ala) | |
| 14 | g.94382772C>A | CA265864124 | SERPINA1 | c.466G>T (p.Glu156Ter) c.208G>T (p.Glu70Ter) | dbSNP |
| 14 | g.94382772C= | CA2155954767 | SERPINA1 | c.466G= (p.Glu156=) c.208G= (p.Glu70=) | |
| 14 | g.94382772C>G | CA390849817 | SERPINA1 | c.466G>C (p.Glu156Gln) c.208G>C (p.Glu70Gln) | |
| 14 | g.94382772C>T | CA7327488 | SERPINA1 | c.466G>A (p.Glu156Lys) c.208G>A (p.Glu70Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382773C>A | CA390849819 | SERPINA1 | c.465G>T (p.Leu155Phe) c.207G>T (p.Leu69Phe) | |
| 14 | g.94382773C= | CA2155954768 | SERPINA1 | c.465G= (p.Leu155=) c.207G= (p.Leu69=) | |
| 14 | g.94382773C>G | CA390849821 | SERPINA1 | c.465G>C (p.Leu155Phe) c.207G>C (p.Leu69Phe) | gnomAD v4 |
| 14 | g.94382773C>T | CA487841034 | SERPINA1 | c.465G>A (p.Leu155=) c.207G>A (p.Leu69=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382773_94382774delinsCA | CA2155954769 | SERPINA1 | c.464_465delinsTG (p.Leu155=) c.206_207delinsTG (p.Leu69=) | |
| 14 | g.94382774A>C | CA390849823 | SERPINA1 | c.464T>G (p.Leu155Trp) c.206T>G (p.Leu69Trp) | |
| 14 | g.94382774A>G | CA390849824 | SERPINA1 | c.464T>C (p.Leu155Ser) c.206T>C (p.Leu69Ser) | |
| 14 | g.94382774A>T | CA390849826 | SERPINA1 | c.464T>A (p.Leu155Ter) c.206T>A (p.Leu69Ter) | |
| 14 | g.94382778del | CA7327489 | SERPINA1 | c.464del (p.Leu155TrpfsTer?) c.206del (p.Leu69TrpfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382775A= | CA2155954770 | SERPINA1 | c.463T= (p.Leu155=) c.205T= (p.Leu69=) | |
| 14 | g.94382775A>C | CA390849830 | SERPINA1 | c.463T>G (p.Leu155Val) c.205T>G (p.Leu69Val) | |
| 14 | g.94382775A>G | CA7327490 | SERPINA1 | c.463T>C (p.Leu155=) c.205T>C (p.Leu69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382775A>T | CA390849828 | SERPINA1 | c.463T>A (p.Leu155Met) c.205T>A (p.Leu69Met) | |
| 14 | g.94382776A>C | CA390849832 | SERPINA1 | c.462T>G (p.Phe154Leu) c.204T>G (p.Phe68Leu) | |
| 14 | g.94382776A>G | CA487841036 | SERPINA1 | c.462T>C (p.Phe154=) c.204T>C (p.Phe68=) | |
| 14 | g.94382776A>T | CA390849834 | SERPINA1 | c.462T>A (p.Phe154Leu) c.204T>A (p.Phe68Leu) |