| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 14 | g.94382598A>G | CA390849264 | SERPINA1 | c.640T>C (p.Phe214Leu) | |
| 14 | g.94382598A>T | CA390849266 | SERPINA1 | c.640T>A (p.Phe214Ile) | |
| 14 | g.94382599G>A | CA487621814 | SERPINA1 | c.639C>T (p.Phe213=) | COSMIC |
| 14 | g.94382599G>C | CA390849267 | SERPINA1 | c.639C>G (p.Phe213Leu) | |
| 14 | g.94382599G>T | CA390849269 | SERPINA1 | c.639C>A (p.Phe213Leu) | |
| 14 | g.94382600A>C | CA390849270 | SERPINA1 | c.638T>G (p.Phe213Cys) | |
| 14 | g.94382600A>G | CA390849273 | SERPINA1 | c.638T>C (p.Phe213Ser) | |
| 14 | g.94382600A>T | CA390849272 | SERPINA1 | c.638T>A (p.Phe213Tyr) | |
| 14 | g.94382601A>C | CA390849275 | SERPINA1 | c.637T>G (p.Phe213Val) | |
| 14 | g.94382601A>G | CA390849278 | SERPINA1 | c.637T>C (p.Phe213Leu) | |
| 14 | g.94382601A>T | CA390849277 | SERPINA1 | c.637T>A (p.Phe213Ile) | |
| 14 | g.94382602G>A | CA487621825 | SERPINA1 | c.636C>T (p.Ile212=) | gnomAD v4 |
| 14 | g.94382602G>C | CA390849280 | SERPINA1 | c.636C>G (p.Ile212Met) | |
| 14 | g.94382602G>T | CA487621829 | SERPINA1 | c.636C>A (p.Ile212=) | |
| 14 | g.94382603A= | CA2155954698 | SERPINA1 | c.635T= (p.Ile212=) | |
| 14 | g.94382603A>C | CA390849281 | SERPINA1 | c.635T>G (p.Ile212Ser) | dbSNP gnomAD v4 |
| 14 | g.94382603A>G | CA390849283 | SERPINA1 | c.635T>C (p.Ile212Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382603A>T | CA390849284 | SERPINA1 | c.635T>A (p.Ile212Asn) | gnomAD v4 |
| 14 | g.94382604T>A | CA390849286 | SERPINA1 | c.634A>T (p.Ile212Phe) | |
| 14 | g.94382604T>C | CA7327458 | SERPINA1 | c.634A>G (p.Ile212Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382604T>G | CA390849289 | SERPINA1 | c.634A>C (p.Ile212Leu) | |
| 14 | g.94382604T= | CA2155954699 | SERPINA1 | c.634A= (p.Ile212=) |