Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94381073_94381074delinsTG | CA2155953938 | SERPINA1 | c.714_715delinsCA (p.Thr238=) | |
14 | g.94381074G>A | CA487841104 | SERPINA1 | c.714C>T (p.Thr238=) | ClinVar dbSNP |
14 | g.94381074G>C | CA487841103 | SERPINA1 | c.714C>G (p.Thr238=) | |
14 | g.94381074G>T | CA487841102 | SERPINA1 | c.714C>A (p.Thr238=) | |
14 | g.94381075del | CA16041709 | SERPINA1 | c.714del (p.Thr239ProfsTer2) | ClinVar dbSNP |
14 | g.94381075G>A | CA7327421 | SERPINA1 | c.713C>T (p.Thr238Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94381075G>C | CA390848905 | SERPINA1 | c.713C>G (p.Thr238Ser) | |
14 | g.94381075G= | CA2155953939 | SERPINA1 | c.713C= (p.Thr238=) | |
14 | g.94381075G>T | CA390848907 | SERPINA1 | c.713C>A (p.Thr238Asn) | |
14 | g.94381076T>A | CA390848909 | SERPINA1 | c.712A>T (p.Thr238Ser) | |
14 | g.94381076T>C | CA390848912 | SERPINA1 | c.712A>G (p.Thr238Ala) | |
14 | g.94381076T>G | CA390848910 | SERPINA1 | c.712A>C (p.Thr238Pro) | |
14 | g.94381077C>A | CA487841106 | SERPINA1 | c.711G>T (p.Val237=) | gnomAD v4 |
14 | g.94381077C= | CA2155953940 | SERPINA1 | c.711G= (p.Val237=) | |
14 | g.94381077C>G | CA487841107 | SERPINA1 | c.711G>C (p.Val237=) | |
14 | g.94381077C>T | CA265863785 | SERPINA1 | c.711G>A (p.Val237=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94381077_94381078insGCCGTATCATTAAAAA | CA966133842 | SERPINA1 | c.710_711insTTTTTAATGATACGGC (p.Thr238PhefsTer2) | gnomAD v3 gnomAD v4 |
14 | g.94381078A= | CA127619 | SERPINA1 | c.710T= (p.Val237=) | |
14 | g.94381078A>C | CA390848914 | SERPINA1 | c.710T>G (p.Val237Gly) | gnomAD v4 |
14 | g.94381078A>G | CA127617 | SERPINA1 | c.710T>C (p.Val237Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94381078A>T | CA390848916 | SERPINA1 | c.710T>A (p.Val237Glu) | |
14 | g.94381079C>A | CA390848920 | SERPINA1 | c.709G>T (p.Val237Leu) | |
14 | g.94381079C>G | CA390848917 | SERPINA1 | c.709G>C (p.Val237Leu) | |
14 | g.94381079C>T | CA390848919 | SERPINA1 | c.709G>A (p.Val237Met) | gnomAD v4 |
14 | g.94381079_94381087delinsCCTGGTCCA | CA2155953941 | SERPINA1 | c.701_709delinsTGGACCAGG (p.Val234=) | |
14 | g.94381080C>A | CA390848922 | SERPINA1 | c.708G>T (p.Gln236His) | |
14 | g.94381080C>G | CA390848924 | SERPINA1 | c.708G>C (p.Gln236His) | |
14 | g.94381080C>T | CA487841109 | SERPINA1 | c.708G>A (p.Gln236=) | ClinVar |
14 | g.94381080_94381082delinsCTG | CA2155953942 | SERPINA1 | c.706_708delinsCAG (p.Gln236=) | |
14 | g.94381081_94381088del | CA616114857 | SERPINA1 | c.701_708del (p.Val234GlyfsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94381081del | CA966133857 | SERPINA1 | c.707del (p.Gln236ArgfsTer2) | gnomAD v3 gnomAD v4 |
14 | g.94381081T>A | CA390848925 | SERPINA1 | c.707A>T (p.Gln236Leu) | |
14 | g.94381081T>C | CA350778 | SERPINA1 | c.707A>G (p.Gln236Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94381081T>G | CA390848927 | SERPINA1 | c.707A>C (p.Gln236Pro) | gnomAD v3 gnomAD v4 |
14 | g.94381081T= | CA2155953943 | SERPINA1 | c.707A= (p.Gln236=) | |
14 | g.94381081_94381082del | CA616114858 | SERPINA1 | c.706_707del (p.Gln236GlyfsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94381082G>A | CA390848929 | SERPINA1 | c.706C>T (p.Gln236Ter) | |
14 | g.94381082G>C | CA390848930 | SERPINA1 | c.706C>G (p.Gln236Glu) | |
14 | g.94381082G= | CA2155953944 | SERPINA1 | c.706C= (p.Gln236=) | |
14 | g.94381082G>T | CA7327422 | SERPINA1 | c.706C>A (p.Gln236Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94381083G>A | CA487841111 | SERPINA1 | c.705C>T (p.Asp235=) | gnomAD v3 gnomAD v4 |
14 | g.94381083G>C | CA390848932 | SERPINA1 | c.705C>G (p.Asp235Glu) | |
14 | g.94381083G= | CA2155953945 | SERPINA1 | c.705C= (p.Asp235=) | |
14 | g.94381083G>T | CA7327423 | SERPINA1 | c.705C>A (p.Asp235Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94381083_94381084insATCA | CA966133869 | SERPINA1 | c.704_705insTGAT (p.Gln236AspfsTer18) | gnomAD v3 gnomAD v4 |
14 | g.94381084T>A | CA390848935 | SERPINA1 | c.704A>T (p.Asp235Val) | gnomAD v3 gnomAD v4 |
14 | g.94381084T>C | CA390848936 | SERPINA1 | c.704A>G (p.Asp235Gly) | dbSNP |
14 | g.94381084T>G | CA390848938 | SERPINA1 | c.704A>C (p.Asp235Ala) | |
14 | g.94381084T= | CA2155953946 | SERPINA1 | c.704A= (p.Asp235=) | |
14 | g.94381084_94381085insAT | CA966133872 | SERPINA1 | c.704_705insTA (p.Gln236ThrfsTer3) | gnomAD v3 gnomAD v4 |