Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
14 | g.94382885T>C | CA390850210 | SERPINA1 | c.353A>G (p.Glu118Gly) c.95A>G (p.Glu32Gly) | |
14 | g.94382885T>G | CA390850211 | SERPINA1 | c.353A>C (p.Glu118Ala) c.95A>C (p.Glu32Ala) | |
14 | g.94382886C>A | CA390850213 | SERPINA1 | c.352G>T (p.Glu118Ter) c.94G>T (p.Glu32Ter) | |
14 | g.94382886C>G | CA390850215 | SERPINA1 | c.352G>C (p.Glu118Gln) c.94G>C (p.Glu32Gln) | |
14 | g.94382886C>T | CA390850216 | SERPINA1 | c.352G>A (p.Glu118Lys) c.94G>A (p.Glu32Lys) | |
14 | g.94382886_94382887del | CA2695199867 | SERPINA1 | c.351_352del (p.His117GlnfsTer?) c.93_94del (p.His31GlnfsTer?) | |
14 | g.94382887A= | CA2155954824 | SERPINA1 | c.351T= (p.His117=) c.93T= (p.His31=) | |
14 | g.94382887A>C | CA390850218 | SERPINA1 | c.351T>G (p.His117Gln) c.93T>G (p.His31Gln) | |
14 | g.94382887A>G | CA487841182 | SERPINA1 | c.351T>C (p.His117=) c.93T>C (p.His31=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94382887A>T | CA390850219 | SERPINA1 | c.351T>A (p.His117Gln) c.93T>A (p.His31Gln) | gnomAD v4 |
14 | g.94382888T>A | CA390850221 | SERPINA1 | c.350A>T (p.His117Leu) c.92A>T (p.His31Leu) | |
14 | g.94382888T>C | CA390850223 | SERPINA1 | c.350A>G (p.His117Arg) c.92A>G (p.His31Arg) | gnomAD v4 |
14 | g.94382888T>G | CA390850224 | SERPINA1 | c.350A>C (p.His117Pro) c.92A>C (p.His31Pro) | |
14 | g.94382889G>A | CA390850226 | SERPINA1 | c.349C>T (p.His117Tyr) c.91C>T (p.His31Tyr) | ClinVar dbSNP |
14 | g.94382889G>C | CA390850229 | SERPINA1 | c.349C>G (p.His117Asp) c.91C>G (p.His31Asp) | |
14 | g.94382889G= | CA2155954825 | SERPINA1 | c.349C= (p.His117=) c.91C= (p.His31=) | |
14 | g.94382889G>T | CA390850227 | SERPINA1 | c.349C>A (p.His117Asn) c.91C>A (p.His31Asn) | |
14 | g.94382890G>A | CA487841193 | SERPINA1 | c.348C>T (p.Ile116=) c.90C>T (p.Ile30=) | gnomAD v4 |
14 | g.94382890G>C | CA7327511 | SERPINA1 | c.348C>G (p.Ile116Met) c.90C>G (p.Ile30Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94382890G= | CA2155954826 | SERPINA1 | c.348C= (p.Ile116=) c.90C= (p.Ile30=) | |
14 | g.94382890G>T | CA487841194 | SERPINA1 | c.348C>A (p.Ile116=) c.90C>A (p.Ile30=) | dbSNP |
14 | g.94382891A= | CA2155954827 | SERPINA1 | c.347T= (p.Ile116=) c.89T= (p.Ile30=) | |
14 | g.94382891A>C | CA390850230 | SERPINA1 | c.347T>G (p.Ile116Ser) c.89T>G (p.Ile30Ser) | |
14 | g.94382891A>G | CA390850232 | SERPINA1 | c.347T>C (p.Ile116Thr) c.89T>C (p.Ile30Thr) |