Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382721C>A | CA390849574 | SERPINA1 | c.517G>T (p.Asp173Tyr) c.259G>T (p.Asp87Tyr) | |
14 | g.94382721C>G | CA390849575 | SERPINA1 | c.517G>C (p.Asp173His) c.259G>C (p.Asp87His) | |
14 | g.94382721C>T | CA390849573 | SERPINA1 | c.517G>A (p.Asp173Asn) c.259G>A (p.Asp87Asn) | |
14 | g.94382724del | CA2626309970 | SERPINA1 | c.517del (p.Asp173ThrfsTer?) c.259del (p.Asp87ThrfsTer?) | gnomAD v4 |
14 | g.94382722C>A | CA487622036 | SERPINA1 | c.516G>T (p.Gly172=) c.258G>T (p.Gly86=) | |
14 | g.94382722C= | CA2155954750 | SERPINA1 | c.516G= (p.Gly172=) c.258G= (p.Gly86=) | |
14 | g.94382722C>G | CA487622037 | SERPINA1 | c.516G>C (p.Gly172=) c.258G>C (p.Gly86=) | |
14 | g.94382722C>T | CA487622038 | SERPINA1 | c.516G>A (p.Gly172=) c.258G>A (p.Gly86=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382723C>A | CA390849576 | SERPINA1 | c.515G>T (p.Gly172Val) c.257G>T (p.Gly86Val) | |
14 | g.94382723C>G | CA390849577 | SERPINA1 | c.515G>C (p.Gly172Ala) c.257G>C (p.Gly86Ala) | |
14 | g.94382723C>T | CA390849578 | SERPINA1 | c.515G>A (p.Gly172Glu) c.257G>A (p.Gly86Glu) | dbSNP |
14 | g.94382724C>A | CA7327480 | SERPINA1 | c.514G>T (p.Gly172Trp) c.256G>T (p.Gly86Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382724C= | CA2155954751 | SERPINA1 | c.514G= (p.Gly172=) c.256G= (p.Gly86=) | |
14 | g.94382724C>G | CA390849579 | SERPINA1 | c.514G>C (p.Gly172Arg) c.256G>C (p.Gly86Arg) | gnomAD v4 |
14 | g.94382724C>T | CA7327479 | SERPINA1 | c.514G>A (p.Gly172Arg) c.256G>A (p.Gly86Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.[94382724C>T;94383015_94383017del] | CA645372995 | SERPINA1 | c.[227_229del;514G>A] (p.[Phe76del;Gly172Arg]) c.[-23-9_-23-7del;256G>A] (p.Gly86Arg) | |
14 | g.94382725G>A | CA7327481 | SERPINA1 | c.513C>T (p.Phe171=) c.255C>T (p.Phe85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382725G>C | CA390849580 | SERPINA1 | c.513C>G (p.Phe171Leu) c.255C>G (p.Phe85Leu) | |
14 | g.94382725G= | CA2155954752 | SERPINA1 | c.513C= (p.Phe171=) c.255C= (p.Phe85=) | |
14 | g.94382725G>T | CA390849581 | SERPINA1 | c.513C>A (p.Phe171Leu) c.255C>A (p.Phe85Leu) | |
14 | g.94382726A>C | CA390849582 | SERPINA1 | c.512T>G (p.Phe171Cys) c.254T>G (p.Phe85Cys) | |
14 | g.94382726A>G | CA390849583 | SERPINA1 | c.512T>C (p.Phe171Ser) c.254T>C (p.Phe85Ser) | |
14 | g.94382726A>T | CA390849584 | SERPINA1 | c.512T>A (p.Phe171Tyr) c.254T>A (p.Phe85Tyr) | |
14 | g.94382727A>C | CA390849585 | SERPINA1 | c.511T>G (p.Phe171Val) c.253T>G (p.Phe85Val) | |
14 | g.94382727A>G | CA390849586 | SERPINA1 | c.511T>C (p.Phe171Leu) c.253T>C (p.Phe85Leu) | |
14 | g.94382727A>T | CA390849587 | SERPINA1 | c.511T>A (p.Phe171Ile) c.253T>A (p.Phe85Ile) | |
14 | g.94382728G>A | CA487622040 | SERPINA1 | c.510C>T (p.Asn170=) c.252C>T (p.Asn84=) | |
14 | g.94382728G>C | CA7327482 | SERPINA1 | c.510C>G (p.Asn170Lys) c.252C>G (p.Asn84Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94382728G= | CA2155954753 | SERPINA1 | c.510C= (p.Asn170=) c.252C= (p.Asn84=) | |
14 | g.94382728G>T | CA390849588 | SERPINA1 | c.510C>A (p.Asn170Lys) c.252C>A (p.Asn84Lys) | |
14 | g.94382729T>A | CA390849589 | SERPINA1 | c.509A>T (p.Asn170Ile) c.251A>T (p.Asn84Ile) | |
14 | g.94382729T>C | CA390849591 | SERPINA1 | c.509A>G (p.Asn170Ser) c.251A>G (p.Asn84Ser) | |
14 | g.94382729T>G | CA390849590 | SERPINA1 | c.509A>C (p.Asn170Thr) c.251A>C (p.Asn84Thr) | COSMIC |
14 | g.94382730T>A | CA390849592 | SERPINA1 | c.508A>T (p.Asn170Tyr) c.250A>T (p.Asn84Tyr) | |
14 | g.94382730T>C | CA390849594 | SERPINA1 | c.508A>G (p.Asn170Asp) c.250A>G (p.Asn84Asp) | |
14 | g.94382730T>G | CA390849593 | SERPINA1 | c.508A>C (p.Asn170His) c.250A>C (p.Asn84His) | gnomAD v4 |
14 | g.94382731G>A | CA487622041 | SERPINA1 | c.507C>T (p.Val169=) c.249C>T (p.Val83=) | |
14 | g.94382731G>C | CA487622042 | SERPINA1 | c.507C>G (p.Val169=) c.249C>G (p.Val83=) | |
14 | g.94382731G>T | CA487622043 | SERPINA1 | c.507C>A (p.Val169=) c.249C>A (p.Val83=) | |
14 | g.94382732A>C | CA390849595 | SERPINA1 | c.506T>G (p.Val169Gly) c.248T>G (p.Val83Gly) | |
14 | g.94382732A>G | CA390849597 | SERPINA1 | c.506T>C (p.Val169Ala) c.248T>C (p.Val83Ala) | |
14 | g.94382732A>T | CA390849596 | SERPINA1 | c.506T>A (p.Val169Asp) c.248T>A (p.Val83Asp) | gnomAD v4 |
14 | g.94382733C>A | CA390849598 | SERPINA1 | c.505G>T (p.Val169Phe) c.247G>T (p.Val83Phe) | |
14 | g.94382733C= | CA2155954754 | SERPINA1 | c.505G= (p.Val169=) c.247G= (p.Val83=) | |
14 | g.94382733C>G | CA390849600 | SERPINA1 | c.505G>C (p.Val169Leu) c.247G>C (p.Val83Leu) | |
14 | g.94382733C>T | CA390849599 | SERPINA1 | c.505G>A (p.Val169Ile) c.247G>A (p.Val83Ile) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382734A>C | CA487622044 | SERPINA1 | c.504T>G (p.Thr168=) c.246T>G (p.Thr82=) | |
14 | g.94382734A>G | CA487622046 | SERPINA1 | c.504T>C (p.Thr168=) c.246T>C (p.Thr82=) | |
14 | g.94382734A>T | CA487622045 | SERPINA1 | c.504T>A (p.Thr168=) c.246T>A (p.Thr82=) | |
14 | g.94382735G>A | CA390849601 | SERPINA1 | c.503C>T (p.Thr168Ile) c.245C>T (p.Thr82Ile) |