| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382864C>A | CA390850133 | SERPINA1 | c.374G>T (p.Arg125Leu) c.116G>T (p.Arg39Leu) | |
| 14 | g.94382864C= | CA2155954815 | SERPINA1 | c.374G= (p.Arg125=) c.116G= (p.Arg39=) | |
| 14 | g.94382864C>G | CA390850134 | SERPINA1 | c.374G>C (p.Arg125Pro) c.116G>C (p.Arg39Pro) | |
| 14 | g.94382864C>T | CA127621 | SERPINA1 | c.374G>A (p.Arg125His) c.116G>A (p.Arg39His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382865G>A | CA7327509 | SERPINA1 | c.373C>T (p.Arg125Cys) c.115C>T (p.Arg39Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382865G>C | CA390850137 | SERPINA1 | c.373C>G (p.Arg125Gly) c.115C>G (p.Arg39Gly) | |
| 14 | g.94382865G= | CA2155954816 | SERPINA1 | c.373C= (p.Arg125=) c.115C= (p.Arg39=) | |
| 14 | g.94382865G>T | CA390850135 | SERPINA1 | c.373C>A (p.Arg125Ser) c.115C>A (p.Arg39Ser) | |
| 14 | g.94382866G>A | CA487841132 | SERPINA1 | c.372C>T (p.Leu124=) c.114C>T (p.Leu38=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94382866G>C | CA487841133 | SERPINA1 | c.372C>G (p.Leu124=) c.114C>G (p.Leu38=) | |
| 14 | g.94382866G>T | CA487841134 | SERPINA1 | c.372C>A (p.Leu124=) c.114C>A (p.Leu38=) | |
| 14 | g.94382867A>C | CA390850139 | SERPINA1 | c.371T>G (p.Leu124Arg) c.113T>G (p.Leu38Arg) | |
| 14 | g.94382867A>G | CA390850141 | SERPINA1 | c.371T>C (p.Leu124Pro) c.113T>C (p.Leu38Pro) | gnomAD v4 |
| 14 | g.94382867A>T | CA390850142 | SERPINA1 | c.371T>A (p.Leu124His) c.113T>A (p.Leu38His) | |
| 14 | g.94382868G>A | CA390850144 | SERPINA1 | c.370C>T (p.Leu124Phe) c.112C>T (p.Leu38Phe) | |
| 14 | g.94382868G>C | CA390850146 | SERPINA1 | c.370C>G (p.Leu124Val) c.112C>G (p.Leu38Val) | |
| 14 | g.94382868G>T | CA390850148 | SERPINA1 | c.370C>A (p.Leu124Ile) c.112C>A (p.Leu38Ile) | |
| 14 | g.94382869G>A | CA487841140 | SERPINA1 | c.369C>T (p.Leu123=) c.111C>T (p.Leu37=) | |
| 14 | g.94382869G>C | CA487841142 | SERPINA1 | c.369C>G (p.Leu123=) c.111C>G (p.Leu37=) | |
| 14 | g.94382869G>T | CA487841144 | SERPINA1 | c.369C>A (p.Leu123=) c.111C>A (p.Leu37=) | ClinVar dbSNP |
| 14 | g.94382870A>C | CA390850149 | SERPINA1 | c.368T>G (p.Leu123Arg) c.110T>G (p.Leu37Arg) | |
| 14 | g.94382870A>G | CA390850151 | SERPINA1 | c.368T>C (p.Leu123Pro) c.110T>C (p.Leu37Pro) | |
| 14 | g.94382870A>T | CA390850153 | SERPINA1 | c.368T>A (p.Leu123His) c.110T>A (p.Leu37His) | |
| 14 | g.94382871G>A | CA390850155 | SERPINA1 | c.367C>T (p.Leu123Phe) c.109C>T (p.Leu37Phe) | gnomAD v4 |
| 14 | g.94382871G>C | CA390850156 | SERPINA1 | c.367C>G (p.Leu123Val) c.109C>G (p.Leu37Val) | gnomAD v4 |
| 14 | g.94382871G>T | CA390850157 | SERPINA1 | c.367C>A (p.Leu123Ile) c.109C>A (p.Leu37Ile) | |
| 14 | g.94382872T>A | CA390850162 | SERPINA1 | c.366A>T (p.Glu122Asp) c.108A>T (p.Glu36Asp) | |
| 14 | g.94382872T>C | CA7327510 | SERPINA1 | c.366A>G (p.Glu122=) c.108A>G (p.Glu36=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382872T>G | CA390850160 | SERPINA1 | c.366A>C (p.Glu122Asp) c.108A>C (p.Glu36Asp) | |
| 14 | g.94382872T= | CA2155954817 | SERPINA1 | c.366A= (p.Glu122=) c.108A= (p.Glu36=) | |
| 14 | g.94382873T>A | CA390850164 | SERPINA1 | c.365A>T (p.Glu122Val) c.107A>T (p.Glu36Val) | |
| 14 | g.94382873T>C | CA390850165 | SERPINA1 | c.365A>G (p.Glu122Gly) c.107A>G (p.Glu36Gly) | |
| 14 | g.94382873T>G | CA390850167 | SERPINA1 | c.365A>C (p.Glu122Ala) c.107A>C (p.Glu36Ala) | |
| 14 | g.94382874C>A | CA390850168 | SERPINA1 | c.364G>T (p.Glu122Ter) c.106G>T (p.Glu36Ter) | |
| 14 | g.94382874C>G | CA390850170 | SERPINA1 | c.364G>C (p.Glu122Gln) c.106G>C (p.Glu36Gln) | |
| 14 | g.94382874C>T | CA390850172 | SERPINA1 | c.364G>A (p.Glu122Lys) c.106G>A (p.Glu36Lys) | COSMIC |
| 14 | g.94382875C>A | CA390850173 | SERPINA1 | c.363G>T (p.Gln121His) c.105G>T (p.Gln35His) | |
| 14 | g.94382875C>G | CA390850175 | SERPINA1 | c.363G>C (p.Gln121His) c.105G>C (p.Gln35His) | |
| 14 | g.94382875C>T | CA487841154 | SERPINA1 | c.363G>A (p.Gln121=) c.105G>A (p.Gln35=) | |
| 14 | g.94382876T>A | CA390850176 | SERPINA1 | c.362A>T (p.Gln121Leu) c.104A>T (p.Gln35Leu) | |
| 14 | g.94382876T>C | CA390850179 | SERPINA1 | c.362A>G (p.Gln121Arg) c.104A>G (p.Gln35Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382876T>G | CA390850181 | SERPINA1 | c.362A>C (p.Gln121Pro) c.104A>C (p.Gln35Pro) | |
| 14 | g.94382876T= | CA2155954818 | SERPINA1 | c.362A= (p.Gln121=) c.104A= (p.Gln35=) | |
| 14 | g.94382877G>A | CA390850185 | SERPINA1 | c.361C>T (p.Gln121Ter) c.103C>T (p.Gln35Ter) | |
| 14 | g.94382877G>C | CA390850183 | SERPINA1 | c.361C>G (p.Gln121Glu) c.103C>G (p.Gln35Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382877G= | CA2155954819 | SERPINA1 | c.361C= (p.Gln121=) c.103C= (p.Gln35=) | |
| 14 | g.94382877G>T | CA390850182 | SERPINA1 | c.361C>A (p.Gln121Lys) c.103C>A (p.Gln35Lys) | |
| 14 | g.94382878G>A | CA487841158 | SERPINA1 | c.360C>T (p.Phe120=) c.102C>T (p.Phe34=) | |
| 14 | g.94382878G>C | CA390850187 | SERPINA1 | c.360C>G (p.Phe120Leu) c.102C>G (p.Phe34Leu) | gnomAD v4 |
| 14 | g.94382878G>T | CA390850188 | SERPINA1 | c.360C>A (p.Phe120Leu) c.102C>A (p.Phe34Leu) |