| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382785C>A | CA487841042 | SERPINA1 | c.453G>T (p.Val151=) c.195G>T (p.Val65=) | |
| 14 | g.94382785C= | CA2155954775 | SERPINA1 | c.453G= (p.Val151=) c.195G= (p.Val65=) | |
| 14 | g.94382785C>G | CA487841043 | SERPINA1 | c.453G>C (p.Val151=) c.195G>C (p.Val65=) | |
| 14 | g.94382785C>T | CA487841044 | SERPINA1 | c.453G>A (p.Val151=) c.195G>A (p.Val65=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382785_94382788delinsCACT | CA2155954774 | SERPINA1 | c.450_453delinsAGTG (p.Leu150=) c.192_195delinsAGTG (p.Leu64=) | |
| 14 | g.94382786A>C | CA390849867 | SERPINA1 | c.452T>G (p.Val151Gly) c.194T>G (p.Val65Gly) | |
| 14 | g.94382786A>G | CA390849868 | SERPINA1 | c.452T>C (p.Val151Ala) c.194T>C (p.Val65Ala) | gnomAD v4 |
| 14 | g.94382786A>T | CA390849869 | SERPINA1 | c.452T>A (p.Val151Glu) c.194T>A (p.Val65Glu) | |
| 14 | g.94382787_94382789del | CA616114859 | SERPINA1 | c.450_452del (p.Val151del) c.192_194del (p.Val65del) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382787C>A | CA390849871 | SERPINA1 | c.451G>T (p.Val151Leu) c.193G>T (p.Val65Leu) | |
| 14 | g.94382787C= | CA2155954776 | SERPINA1 | c.451G= (p.Val151=) c.193G= (p.Val65=) | |
| 14 | g.94382787C>G | CA7327494 | SERPINA1 | c.451G>C (p.Val151Leu) c.193G>C (p.Val65Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382787C>T | CA390849872 | SERPINA1 | c.451G>A (p.Val151Met) c.193G>A (p.Val65Met) | dbSNP |
| 14 | g.94382788T>A | CA487841045 | SERPINA1 | c.450A>T (p.Leu150=) c.192A>T (p.Leu64=) | |
| 14 | g.94382788T>C | CA7327495 | SERPINA1 | c.450A>G (p.Leu150=) c.192A>G (p.Leu64=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382788T>G | CA487841046 | SERPINA1 | c.450A>C (p.Leu150=) c.192A>C (p.Leu64=) | |
| 14 | g.94382788T= | CA2155954777 | SERPINA1 | c.450A= (p.Leu150=) c.192A= (p.Leu64=) | |
| 14 | g.94382789A= | CA2155954778 | SERPINA1 | c.449T= (p.Leu150=) c.191T= (p.Leu64=) | |
| 14 | g.94382789A>C | CA390849876 | SERPINA1 | c.449T>G (p.Leu150Arg) c.191T>G (p.Leu64Arg) | |
| 14 | g.94382789A>G | CA390849877 | SERPINA1 | c.449T>C (p.Leu150Pro) c.191T>C (p.Leu64Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382789A>T | CA390849879 | SERPINA1 | c.449T>A (p.Leu150Gln) c.191T>A (p.Leu64Gln) | |
| 14 | g.94382790G>A | CA487841047 | SERPINA1 | c.448C>T (p.Leu150=) c.190C>T (p.Leu64=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382790G>C | CA390849880 | SERPINA1 | c.448C>G (p.Leu150Val) c.190C>G (p.Leu64Val) | |
| 14 | g.94382790G= | CA2155954779 | SERPINA1 | c.448C= (p.Leu150=) c.190C= (p.Leu64=) | |
| 14 | g.94382790G>T | CA390849881 | SERPINA1 | c.448C>A (p.Leu150Ile) c.190C>A (p.Leu64Ile) | |
| 14 | g.94382791C>A | CA390849883 | SERPINA1 | c.447G>T (p.Lys149Asn) c.189G>T (p.Lys63Asn) | |
| 14 | g.94382791C= | CA2155954780 | SERPINA1 | c.447G= (p.Lys149=) c.189G= (p.Lys63=) | |
| 14 | g.94382791C>G | CA390849884 | SERPINA1 | c.447G>C (p.Lys149Asn) c.189G>C (p.Lys63Asn) | |
| 14 | g.94382791C>T | CA7327496 | SERPINA1 | c.447G>A (p.Lys149=) c.189G>A (p.Lys63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382792T>A | CA390849885 | SERPINA1 | c.446A>T (p.Lys149Met) c.188A>T (p.Lys63Met) | |
| 14 | g.94382792T>C | CA390849887 | SERPINA1 | c.446A>G (p.Lys149Arg) c.188A>G (p.Lys63Arg) | |
| 14 | g.94382792T>G | CA390849889 | SERPINA1 | c.446A>C (p.Lys149Thr) c.188A>C (p.Lys63Thr) | |
| 14 | g.94382793T>A | CA390849891 | SERPINA1 | c.445A>T (p.Lys149Ter) c.187A>T (p.Lys63Ter) | |
| 14 | g.94382793T>C | CA390849892 | SERPINA1 | c.445A>G (p.Lys149Glu) c.187A>G (p.Lys63Glu) | |
| 14 | g.94382793T>G | CA390849894 | SERPINA1 | c.445A>C (p.Lys149Gln) c.187A>C (p.Lys63Gln) | |
| 14 | g.94382794C>A | CA487841049 | SERPINA1 | c.444G>T (p.Leu148=) c.186G>T (p.Leu62=) | |
| 14 | g.94382794C>G | CA487841051 | SERPINA1 | c.444G>C (p.Leu148=) c.186G>C (p.Leu62=) | |
| 14 | g.94382794C>T | CA487841052 | SERPINA1 | c.444G>A (p.Leu148=) c.186G>A (p.Leu62=) | gnomAD v4 COSMIC |
| 14 | g.94382795A>C | CA390849895 | SERPINA1 | c.443T>G (p.Leu148Arg) c.185T>G (p.Leu62Arg) | |
| 14 | g.94382795A>G | CA390849897 | SERPINA1 | c.443T>C (p.Leu148Pro) c.185T>C (p.Leu62Pro) | |
| 14 | g.94382795A>T | CA390849899 | SERPINA1 | c.443T>A (p.Leu148Gln) c.185T>A (p.Leu62Gln) | |
| 14 | g.94382796G>A | CA487841053 | SERPINA1 | c.442C>T (p.Leu148=) c.184C>T (p.Leu62=) | |
| 14 | g.94382796G>C | CA390849900 | SERPINA1 | c.442C>G (p.Leu148Val) c.184C>G (p.Leu62Val) | |
| 14 | g.94382796G>T | CA390849902 | SERPINA1 | c.442C>A (p.Leu148Met) c.184C>A (p.Leu62Met) | |
| 14 | g.94382797G>A | CA487841057 | SERPINA1 | c.441C>T (p.Gly147=) c.183C>T (p.Gly61=) | |
| 14 | g.94382797G>C | CA487841056 | SERPINA1 | c.441C>G (p.Gly147=) c.183C>G (p.Gly61=) | ClinVar |
| 14 | g.94382797G>T | CA487841055 | SERPINA1 | c.441C>A (p.Gly147=) c.183C>A (p.Gly61=) | |
| 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) |