| 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.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=) | 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) | |
| 14 | g.94382777A>C | CA390849836 | SERPINA1 | c.461T>G (p.Phe154Cys) c.203T>G (p.Phe68Cys) | |
| 14 | g.94382777A>G | CA390849838 | SERPINA1 | c.461T>C (p.Phe154Ser) c.203T>C (p.Phe68Ser) | COSMIC |
| 14 | g.94382777A>T | CA390849839 | SERPINA1 | c.461T>A (p.Phe154Tyr) c.203T>A (p.Phe68Tyr) | |
| 14 | g.94382778A= | CA2155954771 | SERPINA1 | c.460T= (p.Phe154=) c.202T= (p.Phe68=) | |
| 14 | g.94382778A>C | CA390849841 | SERPINA1 | c.460T>G (p.Phe154Val) c.202T>G (p.Phe68Val) | |
| 14 | g.94382778A>G | CA7327491 | SERPINA1 | c.460T>C (p.Phe154Leu) c.202T>C (p.Phe68Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382778A>T | CA390849843 | SERPINA1 | c.460T>A (p.Phe154Ile) c.202T>A (p.Phe68Ile) | |
| 14 | g.94382779C>A | CA390849845 | SERPINA1 | c.459G>T (p.Lys153Asn) c.201G>T (p.Lys67Asn) | |
| 14 | g.94382779C>G | CA390849846 | SERPINA1 | c.459G>C (p.Lys153Asn) c.201G>C (p.Lys67Asn) | |
| 14 | g.94382779C>T | CA487841038 | SERPINA1 | c.459G>A (p.Lys153=) c.201G>A (p.Lys67=) | gnomAD v4 |
| 14 | g.94382780T>A | CA390849848 | SERPINA1 | c.458A>T (p.Lys153Met) c.200A>T (p.Lys67Met) | |
| 14 | g.94382780T>C | CA390849849 | SERPINA1 | c.458A>G (p.Lys153Arg) c.200A>G (p.Lys67Arg) | |
| 14 | g.94382780T>G | CA390849850 | SERPINA1 | c.458A>C (p.Lys153Thr) c.200A>C (p.Lys67Thr) | |
| 14 | g.94382781T>A | CA390849854 | SERPINA1 | c.457A>T (p.Lys153Ter) c.199A>T (p.Lys67Ter) | gnomAD v4 |