| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.94378456_94378504del | CA2695219652 | SERPINA1 | c.1208_1256del (p.Thr403AsnfsTer?) c.1208_1256del (p.Thr403=) c.*507_*555del (n.*507_*555del) | |
| 14 | g.94378470_94378472del | CA7327246 | SERPINA1 | c.1237_1239del (p.Val413del) c.*536_*538del (n.*536_*538del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378471A>C | CA390847313 | SERPINA1 | c.1235T>G (p.Val412Gly) c.*534T>G (n.*534T>G) | |
| 14 | g.94378471A>G | CA390847314 | SERPINA1 | c.1235T>C (p.Val412Ala) c.*534T>C (n.*534T>C) | |
| 14 | g.94378471A>T | CA390847315 | SERPINA1 | c.1235T>A (p.Val412Glu) c.*534T>A (n.*534T>A) | |
| 14 | g.94378472C>A | CA390847318 | SERPINA1 | c.1234G>T (p.Val412Leu) c.*533G>T (n.*533G>T) | |
| 14 | g.94378472C>G | CA390847317 | SERPINA1 | c.1234G>C (p.Val412Leu) c.*533G>C (n.*533G>C) | |
| 14 | g.94378472C>T | CA390847316 | SERPINA1 | c.1234G>A (p.Val412Met) c.*533G>A (n.*533G>A) | |
| 14 | g.94378473T>A | CA390847319 | SERPINA1 | c.1233A>T (p.Lys411Asn) c.*532A>T (n.*532A>T) | |
| 14 | g.94378473T>C | CA487621093 | SERPINA1 | c.1233A>G (p.Lys411=) c.*532A>G (n.*532A>G) | |
| 14 | g.94378473T>G | CA390847320 | SERPINA1 | c.1233A>C (p.Lys411Asn) c.*532A>C (n.*532A>C) | |
| 14 | g.94378474T>A | CA390847321 | SERPINA1 | c.1232A>T (p.Lys411Ile) c.*531A>T (n.*531A>T) | |
| 14 | g.94378474T>C | CA390847322 | SERPINA1 | c.1232A>G (p.Lys411Arg) c.*531A>G (n.*531A>G) | |
| 14 | g.94378474T>G | CA390847323 | SERPINA1 | c.1232A>C (p.Lys411Thr) c.*531A>C (n.*531A>C) | |
| 14 | g.94378475T>A | CA390847324 | SERPINA1 | c.1231A>T (p.Lys411Ter) c.*530A>T (n.*530A>T) | |
| 14 | g.94378475T>C | CA390847325 | SERPINA1 | c.1231A>G (p.Lys411Glu) c.*530A>G (n.*530A>G) | |
| 14 | g.94378475T>G | CA390847326 | SERPINA1 | c.1231A>C (p.Lys411Gln) c.*530A>C (n.*530A>C) | |
| 14 | g.94378476T>A | CA487621094 | SERPINA1 | c.1230A>T (p.Gly410=) c.*529A>T (n.*529A>T) | |
| 14 | g.94378476T>C | CA487621096 | SERPINA1 | c.1230A>G (p.Gly410=) c.*529A>G (n.*529A>G) | |
| 14 | g.94378476T>G | CA487621095 | SERPINA1 | c.1230A>C (p.Gly410=) c.*529A>C (n.*529A>C) | |
| 14 | g.94378477C>A | CA390847327 | SERPINA1 | c.1229G>T (p.Gly410Val) c.*528G>T (n.*528G>T) | |
| 14 | g.94378477C= | CA2155953374 | SERPINA1 | c.1229G= (p.Gly410=) c.*528G= (n.*528G=) | |
| 14 | g.94378477C>G | CA390847328 | SERPINA1 | c.1229G>C (p.Gly410Ala) c.*528G>C (n.*528G>C) | |
| 14 | g.94378477C>T | CA390847329 | SERPINA1 | c.1229G>A (p.Gly410Glu) c.*528G>A (n.*528G>A) | dbSNP COSMIC |
| 14 | g.94378478C>A | CA390847330 | SERPINA1 | c.1228G>T (p.Gly410Ter) c.*527G>T (n.*527G>T) | |
| 14 | g.94378478C>G | CA390847331 | SERPINA1 | c.1228G>C (p.Gly410Arg) c.*527G>C (n.*527G>C) | |
| 14 | g.94378478C>T | CA390847332 | SERPINA1 | c.1228G>A (p.Gly410Arg) c.*527G>A (n.*527G>A) | COSMIC |
| 14 | g.94378479C>A | CA390847334 | SERPINA1 | c.1227G>T (p.Met409Ile) c.*526G>T (n.*526G>T) | |
| 14 | g.94378479C>G | CA390847335 | SERPINA1 | c.1227G>C (p.Met409Ile) c.*526G>C (n.*526G>C) | |
| 14 | g.94378479C>T | CA390847333 | SERPINA1 | c.1227G>A (p.Met409Ile) c.*526G>A (n.*526G>A) | |
| 14 | g.94378480A= | CA2155953375 | SERPINA1 | c.1226T= (p.Met409=) c.*525T= (n.*525T=) | |
| 14 | g.94378480A>C | CA390847336 | SERPINA1 | c.1226T>G (p.Met409Arg) c.*525T>G (n.*525T>G) | |
| 14 | g.94378480A>G | CA390847337 | SERPINA1 | c.1226T>C (p.Met409Thr) c.*525T>C (n.*525T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378480A>T | CA390847339 | SERPINA1 | c.1226T>A (p.Met409Lys) c.*525T>A (n.*525T>A) | |
| 14 | g.94378481T>A | CA390847342 | SERPINA1 | c.1225A>T (p.Met409Leu) c.*524A>T (n.*524A>T) | |
| 14 | g.94378481T>C | CA7327247 | SERPINA1 | c.1225A>G (p.Met409Val) c.*524A>G (n.*524A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378481T>G | CA390847345 | SERPINA1 | c.1225A>C (p.Met409Leu) c.*524A>C (n.*524A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378481T= | CA2155953376 | SERPINA1 | c.1225A= (p.Met409=) c.*524A= (n.*524A=) | |
| 14 | g.94378482G>A | CA487621097 | SERPINA1 | c.1224C>T (p.Phe408=) c.*523C>T (n.*523C>T) | gnomAD v4 |
| 14 | g.94378482G>C | CA390847349 | SERPINA1 | c.1224C>G (p.Phe408Leu) c.*523C>G (n.*523C>G) | |
| 14 | g.94378482G>T | CA390847351 | SERPINA1 | c.1224C>A (p.Phe408Leu) c.*523C>A (n.*523C>A) | |
| 14 | g.94378483A>C | CA390847354 | SERPINA1 | c.1223T>G (p.Phe408Cys) c.*522T>G (n.*522T>G) | |
| 14 | g.94378483A>G | CA390847357 | SERPINA1 | c.1223T>C (p.Phe408Ser) c.*522T>C (n.*522T>C) | |
| 14 | g.94378483A>T | CA390847360 | SERPINA1 | c.1223T>A (p.Phe408Tyr) c.*522T>A (n.*522T>A) | |
| 14 | g.94378484A>C | CA390847363 | SERPINA1 | c.1222T>G (p.Phe408Val) c.*521T>G (n.*521T>G) | |
| 14 | g.94378484A>G | CA390847365 | SERPINA1 | c.1222T>C (p.Phe408Leu) c.*521T>C (n.*521T>C) | |
| 14 | g.94378484A>T | CA390847367 | SERPINA1 | c.1222T>A (p.Phe408Ile) c.*521T>A (n.*521T>A) | |
| 14 | g.94378485G>A | CA7327248 | SERPINA1 | c.1221C>T (p.Leu407=) c.*520C>T (n.*520C>T) | ClinVar dbSNP ExAC gnomAD v2 |
| 14 | g.94378485G>C | CA487621099 | SERPINA1 | c.1221C>G (p.Leu407=) c.*520C>G (n.*520C>G) | |
| 14 | g.94378485G= | CA2155953377 | SERPINA1 | c.1221C= (p.Leu407=) c.*520C= (n.*520C=) |