| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94382578T>C | CA2626309840 | SERPINA1 | c.646+14A>G (n.646+14A>G) | gnomAD v4 |
| 14 | g.94382580G>T | CA2575614285 | SERPINA1 | c.646+12C>A (n.646+12C>A) | gnomAD v4 |
| 14 | g.94382581A= | CA2155954685 | SERPINA1 | c.646+11T= (n.646+11T=) | |
| 14 | g.94382581A>G | CA7327449 | SERPINA1 | c.646+11T>C (n.646+11T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382582G>A | CA2155954687 | SERPINA1 | c.646+10C>T (n.646+10C>T) | dbSNP |
| 14 | g.94382582G= | CA2155954686 | SERPINA1 | c.646+10C= (n.646+10C=) | |
| 14 | g.94382583C>T | CA2529310677 | SERPINA1 | c.646+9G>A (n.646+9G>A) | gnomAD v4 |
| 14 | g.94382584A= | CA2155954688 | SERPINA1 | c.646+8T= (n.646+8T=) | |
| 14 | g.94382584A>T | CA7327450 | SERPINA1 | c.646+8T>A (n.646+8T>A) | dbSNP ExAC gnomAD v2 |
| 14 | g.94382585A= | CA2155954690 | SERPINA1 | c.646+7T= (n.646+7T=) | |
| 14 | g.94382585A>C | CA7327452 | SERPINA1 | c.646+7T>G (n.646+7T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382585A>T | CA2626309843 | SERPINA1 | c.646+7T>A (n.646+7T>A) | gnomAD v4 |
| 14 | g.94382585_94382587delinsACC | CA2155954689 | SERPINA1 | c.646+5_646+7delinsGGT (n.646+5_646+7delinsGGT) | |
| 14 | g.94382586C>A | CA7327453 | SERPINA1 | c.646+6G>T (n.646+6G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382586C= | CA2155954691 | SERPINA1 | c.646+6G= (n.646+6G=) | |
| 14 | g.94382586_94382587del | CA7327451 | SERPINA1 | c.646+5_646+6del (n.646+5_646+6del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382587C= | CA2155954692 | SERPINA1 | c.646+5G= (n.646+5G=) | |
| 14 | g.94382587C>T | CA7327454 | SERPINA1 | c.646+5G>A (n.646+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382590A= | CA2155954693 | SERPINA1 | c.646+2T= (n.646+2T=) | |
| 14 | g.94382590A>C | CA390849229 | SERPINA1 | c.646+2T>G (n.646+2T>G) | |
| 14 | g.94382590A>G | CA7327455 | SERPINA1 | c.646+2T>C (n.646+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382590A>T | CA390849232 | SERPINA1 | c.646+2T>A (n.646+2T>A) | |
| 14 | g.94382591C>A | CA274333 | SERPINA1 | c.646+1G>T (n.646+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382591C= | CA2155954694 | SERPINA1 | c.646+1G= (n.646+1G=) | |
| 14 | g.94382591C>G | CA390849234 | SERPINA1 | c.646+1G>C (n.646+1G>C) | |
| 14 | g.94382591C>T | CA390849235 | SERPINA1 | c.646+1G>A (n.646+1G>A) | COSMIC |
| 14 | g.94382592del | CA2695219658 | SERPINA1 | c.646+1del | |
| 14 | g.94382592C>A | CA7327456 | SERPINA1 | c.646G>T (p.Gly216Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382592C= | CA2155954695 | SERPINA1 | c.646G= (p.Gly216=) | |
| 14 | g.94382592C>G | CA390849237 | SERPINA1 | c.646G>C (p.Gly216Arg) | |
| 14 | g.94382592C>T | CA390849239 | SERPINA1 | c.646G>A (p.Gly216Ser) | |
| 14 | g.94382593T>A | CA390849240 | SERPINA1 | c.645A>T (p.Lys215Asn) | |
| 14 | g.94382593T>C | CA7327457 | SERPINA1 | c.645A>G (p.Lys215=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382593T>G | CA390849242 | SERPINA1 | c.645A>C (p.Lys215Asn) | |
| 14 | g.94382593T= | CA2155954696 | SERPINA1 | c.645A= (p.Lys215=) | |
| 14 | g.94382594T>A | CA390849246 | SERPINA1 | c.644A>T (p.Lys215Ile) | |
| 14 | g.94382594T>C | CA390849247 | SERPINA1 | c.644A>G (p.Lys215Arg) | |
| 14 | g.94382594T>G | CA390849245 | SERPINA1 | c.644A>C (p.Lys215Thr) | |
| 14 | g.94382595T>A | CA390849248 | SERPINA1 | c.643A>T (p.Lys215Ter) | |
| 14 | g.94382595T>C | CA390849250 | SERPINA1 | c.643A>G (p.Lys215Glu) | |
| 14 | g.94382595T>G | CA390849252 | SERPINA1 | c.643A>C (p.Lys215Gln) | |
| 14 | g.94382596A>C | CA390849254 | SERPINA1 | c.642T>G (p.Phe214Leu) | |
| 14 | g.94382596A>G | CA487621808 | SERPINA1 | c.642T>C (p.Phe214=) | |
| 14 | g.94382596A>T | CA390849255 | SERPINA1 | c.642T>A (p.Phe214Leu) | |
| 14 | g.94382596_94382599delinsAAAG | CA2155954697 | SERPINA1 | c.639_642delinsCTTT (p.Phe213=) | |
| 14 | g.94382597A>C | CA390849261 | SERPINA1 | c.641T>G (p.Phe214Cys) | |
| 14 | g.94382597A>G | CA390849257 | SERPINA1 | c.641T>C (p.Phe214Ser) | |
| 14 | g.94382597A>T | CA390849259 | SERPINA1 | c.641T>A (p.Phe214Tyr) | |
| 14 | g.94382601_94382603del | CA966134363 | SERPINA1 | c.639_641del (p.Phe214del) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382598A>C | CA390849262 | SERPINA1 | c.640T>G (p.Phe214Val) |