Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
14 | g.94382879A>C | CA390850189 | SERPINA1 | c.359T>G (p.Phe120Cys) c.101T>G (p.Phe34Cys) | |
14 | g.94382879A>G | CA390850191 | SERPINA1 | c.359T>C (p.Phe120Ser) c.101T>C (p.Phe34Ser) | |
14 | g.94382879A>T | CA390850193 | SERPINA1 | c.359T>A (p.Phe120Tyr) c.101T>A (p.Phe34Tyr) | |
14 | g.94382880A>C | CA390850195 | SERPINA1 | c.358T>G (p.Phe120Val) c.100T>G (p.Phe34Val) | gnomAD v4 |
14 | g.94382880A>G | CA390850196 | SERPINA1 | c.358T>C (p.Phe120Leu) c.100T>C (p.Phe34Leu) | |
14 | g.94382880A>T | CA390850197 | SERPINA1 | c.358T>A (p.Phe120Ile) c.100T>A (p.Phe34Ile) | |
14 | g.94382881G>A | CA487841161 | SERPINA1 | c.357C>T (p.Gly119=) c.99C>T (p.Gly33=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382881G>C | CA487841165 | SERPINA1 | c.357C>G (p.Gly119=) c.99C>G (p.Gly33=) | |
14 | g.94382881G= | CA2155954820 | SERPINA1 | c.357C= (p.Gly119=) c.99C= (p.Gly33=) | |
14 | g.94382881G>T | CA487841168 | SERPINA1 | c.357C>A (p.Gly119=) c.99C>A (p.Gly33=) | |
14 | g.94382882C>A | CA265864148 | SERPINA1 | c.356G>T (p.Gly119Val) c.98G>T (p.Gly33Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382882C= | CA2155954821 | SERPINA1 | c.356G= (p.Gly119=) c.98G= (p.Gly33=) | |
14 | g.94382882C>G | CA265864149 | SERPINA1 | c.356G>C (p.Gly119Ala) c.98G>C (p.Gly33Ala) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94382882C>T | CA390850200 | SERPINA1 | c.356G>A (p.Gly119Asp) c.98G>A (p.Gly33Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.94382883C>A | CA390850202 | SERPINA1 | c.355G>T (p.Gly119Cys) c.97G>T (p.Gly33Cys) | |
14 | g.94382883C>G | CA390850203 | SERPINA1 | c.355G>C (p.Gly119Arg) c.97G>C (p.Gly33Arg) | |
14 | g.94382883C>T | CA390850205 | SERPINA1 | c.355G>A (p.Gly119Ser) c.97G>A (p.Gly33Ser) | gnomAD v4 |
14 | g.94382883_94382884delinsCT | CA2155954822 | SERPINA1 | c.354_355delinsAG (p.Glu118=) c.96_97delinsAG (p.Glu32=) | |
14 | g.94382884T>A | CA390850206 | SERPINA1 | c.354A>T (p.Glu118Asp) c.96A>T (p.Glu32Asp) | |
14 | g.94382884T>C | CA487841174 | SERPINA1 | c.354A>G (p.Glu118=) c.96A>G (p.Glu32=) | ClinVar |
14 | g.94382884T>G | CA390850207 | SERPINA1 | c.354A>C (p.Glu118Asp) c.96A>C (p.Glu32Asp) | gnomAD v4 |
14 | g.94382885del | CA2155954823 | SERPINA1 | c.354del (p.Gly119AlafsTer18) c.96del (p.Gly33AlafsTer18) | dbSNP |
14 | g.94382885T>A | CA390850208 | SERPINA1 | c.353A>T (p.Glu118Val) c.95A>T (p.Glu32Val) |