| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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?) | ClinVar |
| 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) | |
| 14 | g.94382891A>T | CA127736 | SERPINA1 | c.347T>A (p.Ile116Asn) c.89T>A (p.Ile30Asn) | ClinVar dbSNP |
| 14 | g.94382892T>A | CA390850234 | SERPINA1 | c.346A>T (p.Ile116Phe) c.88A>T (p.Ile30Phe) | |
| 14 | g.94382892T>C | CA265864153 | SERPINA1 | c.346A>G (p.Ile116Val) c.88A>G (p.Ile30Val) | dbSNP |
| 14 | g.94382892T>G | CA390850236 | SERPINA1 | c.346A>C (p.Ile116Leu) c.88A>C (p.Ile30Leu) | |
| 14 | g.94382892T= | CA2155954828 | SERPINA1 | c.346A= (p.Ile116=) c.88A= (p.Ile30=) | |
| 14 | g.94382893C>A | CA390850239 | SERPINA1 | c.345G>T (p.Gln115His) c.87G>T (p.Gln29His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382893C= | CA2155954829 | SERPINA1 | c.345G= (p.Gln115=) c.87G= (p.Gln29=) | |
| 14 | g.94382893C>G | CA390850237 | SERPINA1 | c.345G>C (p.Gln115His) c.87G>C (p.Gln29His) | |
| 14 | g.94382893C>T | CA487841204 | SERPINA1 | c.345G>A (p.Gln115=) c.87G>A (p.Gln29=) | gnomAD v4 |
| 14 | g.94382894T>A | CA390850241 | SERPINA1 | c.344A>T (p.Gln115Leu) c.86A>T (p.Gln29Leu) | gnomAD v4 |
| 14 | g.94382894T>C | CA390850243 | SERPINA1 | c.344A>G (p.Gln115Arg) c.86A>G (p.Gln29Arg) | |
| 14 | g.94382894T>G | CA390850244 | SERPINA1 | c.344A>C (p.Gln115Pro) c.86A>C (p.Gln29Pro) | |
| 14 | g.94382895G>A | CA390850245 | SERPINA1 | c.343C>T (p.Gln115Ter) c.85C>T (p.Gln29Ter) | ClinVar |
| 14 | g.94382895G>C | CA390850247 | SERPINA1 | c.343C>G (p.Gln115Glu) c.85C>G (p.Gln29Glu) | dbSNP gnomAD v4 |
| 14 | g.94382895G= | CA2155954830 | SERPINA1 | c.343C= (p.Gln115=) c.85C= (p.Gln29=) | |
| 14 | g.94382895G>T | CA390850249 | SERPINA1 | c.343C>A (p.Gln115Lys) c.85C>A (p.Gln29Lys) | |
| 14 | g.94382896A>C | CA487841211 | SERPINA1 | c.342T>G (p.Ala114=) c.84T>G (p.Ala28=) | |
| 14 | g.94382896A>G | CA487841213 | SERPINA1 | c.342T>C (p.Ala114=) c.84T>C (p.Ala28=) | |
| 14 | g.94382896A>T | CA487841215 | SERPINA1 | c.342T>A (p.Ala114=) c.84T>A (p.Ala28=) | |
| 14 | g.94382897G>A | CA390850250 | SERPINA1 | c.341C>T (p.Ala114Val) c.83C>T (p.Ala28Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382897G>C | CA390850253 | SERPINA1 | c.341C>G (p.Ala114Gly) c.83C>G (p.Ala28Gly) | |
| 14 | g.94382897G= | CA2155954831 | SERPINA1 | c.341C= (p.Ala114=) c.83C= (p.Ala28=) | |
| 14 | g.94382897G>T | CA390850252 | SERPINA1 | c.341C>A (p.Ala114Asp) c.83C>A (p.Ala28Asp) | |
| 14 | g.94382898C>A | CA390850255 | SERPINA1 | c.340G>T (p.Ala114Ser) c.82G>T (p.Ala28Ser) | dbSNP gnomAD v4 |