UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.94378466_94378469delinsTCAC | CA2155953372 | SERPINA1 | c.1237_1240delinsGTGA (p.Val413=) c.*536_*539delinsGTGA (n.*536_*539delinsGTGA) | |
| 14 | g.94378467C>A | CA487621084 | SERPINA1 | c.1239G>T (p.Val413=) c.*538G>T (n.*538G>T) | |
| 14 | g.94378467C>G | CA487621086 | SERPINA1 | c.1239G>C (p.Val413=) c.*538G>C (n.*538G>C) | |
| 14 | g.94378467C>T | CA487621087 | SERPINA1 | c.1239G>A (p.Val413=) c.*538G>A (n.*538G>A) | COSMIC |
| 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.94378468A>C | CA390847307 | SERPINA1 | c.1238T>G (p.Val413Gly) c.*537T>G (n.*537T>G) | |
| 14 | g.94378468A>G | CA390847308 | SERPINA1 | c.1238T>C (p.Val413Ala) c.*537T>C (n.*537T>C) | |
| 14 | g.94378468A>T | CA390847309 | SERPINA1 | c.1238T>A (p.Val413Glu) c.*537T>A (n.*537T>A) | |
| 14 | g.94378469C>A | CA390847310 | SERPINA1 | c.1237G>T (p.Val413Leu) c.*536G>T (n.*536G>T) | gnomAD v4 |
| 14 | g.94378469C= | CA2155953373 | SERPINA1 | c.1237G= (p.Val413=) c.*536G= (n.*536G=) | |
| 14 | g.94378469C>G | CA390847311 | SERPINA1 | c.1237G>C (p.Val413Leu) c.*536G>C (n.*536G>C) | dbSNP gnomAD v4 |
| 14 | g.94378469C>T | CA390847312 | SERPINA1 | c.1237G>A (p.Val413Met) c.*536G>A (n.*536G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378470C>A | CA487621088 | SERPINA1 | c.1236G>T (p.Val412=) c.*535G>T (n.*535G>T) | |
| 14 | g.94378470C>G | CA487621090 | SERPINA1 | c.1236G>C (p.Val412=) c.*535G>C (n.*535G>C) | |
| 14 | g.94378470C>T | CA487621091 | SERPINA1 | c.1236G>A (p.Val412=) c.*535G>A (n.*535G>A) | |
| 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=) | |
| 14 | g.94378485G>T | CA487621098 | SERPINA1 | c.1221C>A (p.Leu407=) c.*520C>A (n.*520C>A) | |
| 14 | g.94378486A= | CA2155953378 | SERPINA1 | c.1220T= (p.Leu407=) c.*519T= (n.*519T=) | |
| 14 | g.94378486A>C | CA265860594 | SERPINA1 | c.1220T>G (p.Leu407Arg) c.*519T>G (n.*519T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378486A>G | CA390847374 | SERPINA1 | c.1220T>C (p.Leu407Pro) c.*519T>C (n.*519T>C) | |
| 14 | g.94378486A>T | CA390847376 | SERPINA1 | c.1220T>A (p.Leu407His) c.*519T>A (n.*519T>A) | |
| 14 | g.94378487G>A | CA390847378 | SERPINA1 | c.1219C>T (p.Leu407Phe) c.*518C>T (n.*518C>T) | gnomAD v4 |
| 14 | g.94378487G>C | CA390847380 | SERPINA1 | c.1219C>G (p.Leu407Val) c.*518C>G (n.*518C>G) | dbSNP gnomAD v4 COSMIC |
| 14 | g.94378487G= | CA2155953379 | SERPINA1 | c.1219C= (p.Leu407=) c.*518C= (n.*518C=) | |
| 14 | g.94378487G>T | CA390847382 | SERPINA1 | c.1219C>A (p.Leu407Ile) c.*518C>A (n.*518C>A) | |
| 14 | g.94378490del | CA2626279418 | SERPINA1 | c.1219del (p.Leu407SerfsTer7) c.*518del (n.*518del) | gnomAD v4 |
| 14 | g.94378488G>A | CA487621100 | SERPINA1 | c.1218C>T (p.Pro406=) c.*517C>T (n.*517C>T) | |
| 14 | g.94378488G>C | CA487621101 | SERPINA1 | c.1218C>G (p.Pro406=) c.*517C>G (n.*517C>G) | |
| 14 | g.94378488G>T | CA487621102 | SERPINA1 | c.1218C>A (p.Pro406=) c.*517C>A (n.*517C>A) | gnomAD v4 |
| 14 | g.94378489G>A | CA390847385 | SERPINA1 | c.1217C>T (p.Pro406Leu) c.*516C>T (n.*516C>T) | dbSNP |
| 14 | g.94378489G>C | CA390847387 | SERPINA1 | c.1217C>G (p.Pro406Arg) c.*516C>G (n.*516C>G) | |
| 14 | g.94378489G= | CA2155953380 | SERPINA1 | c.1217C= (p.Pro406=) c.*516C= (n.*516C=) | |
| 14 | g.94378489G>T | CA390847389 | SERPINA1 | c.1217C>A (p.Pro406His) c.*516C>A (n.*516C>A) | |
| 14 | g.94378490G>A | CA390847391 | SERPINA1 | c.1216C>T (p.Pro406Ser) c.*515C>T (n.*515C>T) | COSMIC |
| 14 | g.94378490G>C | CA390847392 | SERPINA1 | c.1216C>G (p.Pro406Ala) c.*515C>G (n.*515C>G) | |
| 14 | g.94378490G= | CA2155953381 | SERPINA1 | c.1216C= (p.Pro406=) c.*515C= (n.*515C=) | |
| 14 | g.94378490G>T | CA7327249 | SERPINA1 | c.1216C>A (p.Pro406Thr) c.*515C>A (n.*515C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378491A>C | CA487621103 | SERPINA1 | c.1215T>G (p.Ser405=) c.*514T>G (n.*514T>G) | |
| 14 | g.94378491A>G | CA487621104 | SERPINA1 | c.1215T>C (p.Ser405=) c.*514T>C (n.*514T>C) | |
| 14 | g.94378491A>T | CA487621105 | SERPINA1 | c.1215T>A (p.Ser405=) c.*514T>A (n.*514T>A) | |
| 14 | g.94378492G>A | CA390847396 | SERPINA1 | c.1214C>T (p.Ser405Phe) c.*513C>T (n.*513C>T) | dbSNP |
| 14 | g.94378492G>C | CA390847400 | SERPINA1 | c.1214C>G (p.Ser405Cys) c.*513C>G (n.*513C>G) | |
| 14 | g.94378492G= | CA2155953382 | SERPINA1 | c.1214C= (p.Ser405=) c.*513C= (n.*513C=) | |
| 14 | g.94378492G>T | CA265860597 | SERPINA1 | c.1214C>A (p.Ser405Tyr) c.*513C>A (n.*513C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378493A>C | CA390847403 | SERPINA1 | c.1213T>G (p.Ser405Ala) c.*512T>G (n.*512T>G) | |
| 14 | g.94378493A>G | CA390847407 | SERPINA1 | c.1213T>C (p.Ser405Pro) c.*512T>C (n.*512T>C) | |
| 14 | g.94378493A>T | CA390847405 | SERPINA1 | c.1213T>A (p.Ser405Thr) c.*512T>A (n.*512T>A) | |
| 14 | g.94378494C>A | CA390847408 | SERPINA1 | c.1212G>T (p.Lys404Asn) c.*511G>T (n.*511G>T) | dbSNP |
| 14 | g.94378494C>G | CA390847409 | SERPINA1 | c.1212G>C (p.Lys404Asn) c.*511G>C (n.*511G>C) | gnomAD v4 |
| 14 | g.94378494C>T | CA487621106 | SERPINA1 | c.1212G>A (p.Lys404=) c.*511G>A (n.*511G>A) | |
| 14 | g.94378495T>A | CA390847411 | SERPINA1 | c.1211A>T (p.Lys404Met) c.*510A>T (n.*510A>T) | |
| 14 | g.94378495T>C | CA7327250 | SERPINA1 | c.1211A>G (p.Lys404Arg) c.*510A>G (n.*510A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378495T>G | CA265860599 | SERPINA1 | c.1211A>C (p.Lys404Thr) c.*510A>C (n.*510A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378495T= | CA2155953383 | SERPINA1 | c.1211A= (p.Lys404=) c.*510A= (n.*510A=) | |
| 14 | g.94378496T>A | CA390847420 | SERPINA1 | c.1210A>T (p.Lys404Ter) c.*509A>T (n.*509A>T) | |
| 14 | g.94378496T>C | CA390847418 | SERPINA1 | c.1210A>G (p.Lys404Glu) c.*509A>G (n.*509A>G) | |
| 14 | g.94378496T>G | CA390847416 | SERPINA1 | c.1210A>C (p.Lys404Gln) c.*509A>C (n.*509A>C) | |
| 14 | g.94378497G>A | CA487621107 | SERPINA1 | c.1209C>T (p.Thr403=) c.*508C>T (n.*508C>T) | |
| 14 | g.94378497G>C | CA487621108 | SERPINA1 | c.1209C>G (p.Thr403=) c.*508C>G (n.*508C>G) | |
| 14 | g.94378497G>T | CA487621109 | SERPINA1 | c.1209C>A (p.Thr403=) c.*508C>A (n.*508C>A) | gnomAD v4 |
| 14 | g.94378498G>A | CA350154 | SERPINA1 | c.1208C>T (p.Thr403Ile) c.*507C>T (n.*507C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378498G>C | CA7327251 | SERPINA1 | c.1208C>G (p.Thr403Ser) c.*507C>G (n.*507C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378498G= | CA2155953384 | SERPINA1 | c.1208C= (p.Thr403=) c.*507C= (n.*507C=) | |
| 14 | g.94378498G>T | CA390847425 | SERPINA1 | c.1208C>A (p.Thr403Asn) c.*507C>A (n.*507C>A) | dbSNP |
| 14 | g.94378499T>A | CA390847428 | SERPINA1 | c.1207A>T (p.Thr403Ser) c.*506A>T (n.*506A>T) | |
| 14 | g.94378499T>C | CA390847430 | SERPINA1 | c.1207A>G (p.Thr403Ala) c.*506A>G (n.*506A>G) | dbSNP gnomAD v4 |
| 14 | g.94378499T>G | CA390847432 | SERPINA1 | c.1207A>C (p.Thr403Pro) c.*506A>C (n.*506A>C) | |
| 14 | g.94378499T= | CA2155953385 | SERPINA1 | c.1207A= (p.Thr403=) c.*506A= (n.*506A=) | |
| 14 | g.94378500A= | CA2155953387 | SERPINA1 | c.1206T= (p.Asn402=) c.*505T= (n.*505T=) | |
| 14 | g.94378500A>C | CA390847435 | SERPINA1 | c.1206T>G (p.Asn402Lys) c.*505T>G (n.*505T>G) | |
| 14 | g.94378500A>G | CA7327252 | SERPINA1 | c.1206T>C (p.Asn402=) c.*505T>C (n.*505T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378500A>T | CA390847437 | SERPINA1 | c.1206T>A (p.Asn402Lys) c.*505T>A (n.*505T>A) | |
| 14 | g.94378500_94378501delinsAT | CA2155953386 | SERPINA1 | c.1205_1206delinsAT (p.Asn402=) c.*504_*505delinsAT (n.*504_*505delinsAT) | |
| 14 | g.94378501T>A | CA390847442 | SERPINA1 | c.1205A>T (p.Asn402Ile) c.*504A>T (n.*504A>T) | |
| 14 | g.94378501T>C | CA390847445 | SERPINA1 | c.1205A>G (p.Asn402Ser) c.*504A>G (n.*504A>G) | |
| 14 | g.94378501T>G | CA390847447 | SERPINA1 | c.1205A>C (p.Asn402Thr) c.*504A>C (n.*504A>C) | |
| 14 | g.94378504del | CA616114972 | SERPINA1 | c.1205del (p.Asn402IlefsTer12) c.*504del (n.*504del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378502T>A | CA390847449 | SERPINA1 | c.1204A>T (p.Asn402Tyr) c.*503A>T (n.*503A>T) | |
| 14 | g.94378502T>C | CA390847452 | SERPINA1 | c.1204A>G (p.Asn402Asp) c.*503A>G (n.*503A>G) | |
| 14 | g.94378502T>G | CA390847454 | SERPINA1 | c.1204A>C (p.Asn402His) c.*503A>C (n.*503A>C) | |
| 14 | g.94378503T>A | CA390847457 | SERPINA1 | c.1203A>T (p.Gln401His) c.*502A>T (n.*502A>T) | |
| 14 | g.94378503T>C | CA487621110 | SERPINA1 | c.1203A>G (p.Gln401=) c.*502A>G (n.*502A>G) | |
| 14 | g.94378503T>G | CA390847459 | SERPINA1 | c.1203A>C (p.Gln401His) c.*502A>C (n.*502A>C) | |
| 14 | g.94378504T>A | CA390847462 | SERPINA1 | c.1202A>T (p.Gln401Leu) c.*501A>T (n.*501A>T) | |
| 14 | g.94378504T>C | CA390847464 | SERPINA1 | c.1202A>G (p.Gln401Arg) c.*501A>G (n.*501A>G) | gnomAD v4 |
| 14 | g.94378504T>G | CA390847466 | SERPINA1 | c.1202A>C (p.Gln401Pro) c.*501A>C (n.*501A>C) | dbSNP |
| 14 | g.94378504T= | CA2155953389 | SERPINA1 | c.1202A= (p.Gln401=) c.*501A= (n.*501A=) | |
| 14 | g.94378504_94378505delinsTG | CA2155953388 | SERPINA1 | c.1201_1202delinsCA (p.Gln401=) c.*500_*501delinsCA (n.*500_*501delinsCA) | |
| 14 | g.94378505del | CA265860605 | SERPINA1 | c.1201del (p.Gln401LysfsTer13) c.*500del (n.*500del) | dbSNP |
| 14 | g.94378505G>A | CA390847470 | SERPINA1 | c.1201C>T (p.Gln401Ter) c.*500C>T (n.*500C>T) | |
| 14 | g.94378505G>C | CA390847473 | SERPINA1 | c.1201C>G (p.Gln401Glu) c.*500C>G (n.*500C>G) | |
| 14 | g.94378505G= | CA2155953390 | SERPINA1 | c.1201C= (p.Gln401=) c.*500C= (n.*500C=) | |
| 14 | g.94378505G>T | CA265860607 | SERPINA1 | c.1201C>A (p.Gln401Lys) c.*500C>A (n.*500C>A) | dbSNP |
| 14 | g.94378505_94378506delinsGT | CA2155953391 | SERPINA1 | c.1200_1201delinsAC (p.Glu400=) c.*499_*500delinsAC (n.*499_*500delinsAC) | |
| 14 | g.94378506T>A | CA390847475 | SERPINA1 | c.1200A>T (p.Glu400Asp) c.*499A>T (n.*499A>T) | |
| 14 | g.94378506T>C | CA487621111 | SERPINA1 | c.1200A>G (p.Glu400=) c.*499A>G (n.*499A>G) | dbSNP |
| 14 | g.94378506T>G | CA127624 | SERPINA1 | c.1200A>C (p.Glu400Asp) c.*499A>C (n.*499A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378506T= | CA2155953392 | SERPINA1 | c.1200A= (p.Glu400=) c.*499A= (n.*499A=) | |
| 14 | g.94378507del | CA265860608 | SERPINA1 | c.1200del (p.Glu400AspfsTer14) c.*499del (n.*499del) | dbSNP |
| 14 | g.94378506_94378507insG | CA616114973 | SERPINA1 | c.1199_1200insC (p.Glu400AspfsTer?) c.*498_*499insC (n.*498_*499insC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378507T>A | CA390847479 | SERPINA1 | c.1199A>T (p.Glu400Val) c.*498A>T (n.*498A>T) | |
| 14 | g.94378507T>C | CA390847482 | SERPINA1 | c.1199A>G (p.Glu400Gly) c.*498A>G (n.*498A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378507T>G | CA390847484 | SERPINA1 | c.1199A>C (p.Glu400Ala) c.*498A>C (n.*498A>C) | gnomAD v4 |
| 14 | g.94378507T= | CA2155953393 | SERPINA1 | c.1199A= (p.Glu400=) c.*498A= (n.*498A=) | |
| 14 | g.94378508C>A | CA390847487 | SERPINA1 | c.1198G>T (p.Glu400Ter) c.*497G>T (n.*497G>T) | |
| 14 | g.94378508C>G | CA390847489 | SERPINA1 | c.1198G>C (p.Glu400Gln) c.*497G>C (n.*497G>C) | |
| 14 | g.94378508C>T | CA390847491 | SERPINA1 | c.1198G>A (p.Glu400Lys) c.*497G>A (n.*497G>A) | gnomAD v4 |
| 14 | g.94378509A>C | CA390847492 | SERPINA1 | c.1197T>G (p.Ile399Met) c.*496T>G (n.*496T>G) | |
| 14 | g.94378509A>G | CA487621112 | SERPINA1 | c.1197T>C (p.Ile399=) c.*496T>C (n.*496T>C) | gnomAD v4 |
| 14 | g.94378509A>T | CA487621113 | SERPINA1 | c.1197T>A (p.Ile399=) c.*496T>A (n.*496T>A) | |
| 14 | g.94378510A= | CA2155953394 | SERPINA1 | c.1196T= (p.Ile399=) c.*495T= (n.*495T=) | |
| 14 | g.94378510A>C | CA390847494 | SERPINA1 | c.1196T>G (p.Ile399Ser) c.*495T>G (n.*495T>G) | |
| 14 | g.94378510A>G | CA7327253 | SERPINA1 | c.1196T>C (p.Ile399Thr) c.*495T>C (n.*495T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378510A>T | CA390847497 | SERPINA1 | c.1196T>A (p.Ile399Asn) c.*495T>A (n.*495T>A) | |
| 14 | g.94378511T>A | CA390847504 | SERPINA1 | c.1195A>T (p.Ile399Phe) c.*494A>T (n.*494A>T) | |
| 14 | g.94378511T>C | CA265860611 | SERPINA1 | c.1195A>G (p.Ile399Val) c.*494A>G (n.*494A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378511T>G | CA390847502 | SERPINA1 | c.1195A>C (p.Ile399Leu) c.*494A>C (n.*494A>C) | |
| 14 | g.94378511T= | CA2155953395 | SERPINA1 | c.1195A= (p.Ile399=) c.*494A= (n.*494A=) | |
| 14 | g.94378512_94378515del | CA2695219653 | SERPINA1 | c.1192_1195del (p.Met398LeufsTer15) c.*491_*494del (n.*491_*494del) | |
| 14 | g.94378512C>A | CA390847507 | SERPINA1 | c.1194G>T (p.Met398Ile) c.*493G>T (n.*493G>T) | |
| 14 | g.94378512C= | CA2155953396 | SERPINA1 | c.1194G= (p.Met398=) c.*493G= (n.*493G=) | |
| 14 | g.94378512C>G | CA390847509 | SERPINA1 | c.1194G>C (p.Met398Ile) c.*493G>C (n.*493G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378512C>T | CA390847511 | SERPINA1 | c.1194G>A (p.Met398Ile) c.*493G>A (n.*493G>A) | gnomAD v4 COSMIC |
| 14 | g.94378513A>C | CA390847514 | SERPINA1 | c.1193T>G (p.Met398Arg) c.*492T>G (n.*492T>G) | |
| 14 | g.94378513A>G | CA390847517 | SERPINA1 | c.1193T>C (p.Met398Thr) c.*492T>C (n.*492T>C) | |
| 14 | g.94378513A>T | CA390847519 | SERPINA1 | c.1193T>A (p.Met398Lys) c.*492T>A (n.*492T>A) | |
| 14 | g.94378514T>A | CA390847522 | SERPINA1 | c.1192A>T (p.Met398Leu) c.*491A>T (n.*491A>T) | |
| 14 | g.94378514T>C | CA390847524 | SERPINA1 | c.1192A>G (p.Met398Val) c.*491A>G (n.*491A>G) | |
| 14 | g.94378514T>G | CA390847526 | SERPINA1 | c.1192A>C (p.Met398Leu) c.*491A>C (n.*491A>C) | |
| 14 | g.94378515T>A | CA390847529 | SERPINA1 | c.1191A>T (p.Leu397Phe) c.*490A>T (n.*490A>T) | |
| 14 | g.94378515T>C | CA487621114 | SERPINA1 | c.1191A>G (p.Leu397=) c.*490A>G (n.*490A>G) | dbSNP gnomAD v2 |
| 14 | g.94378515T>G | CA390847531 | SERPINA1 | c.1191A>C (p.Leu397Phe) c.*490A>C (n.*490A>C) | |
| 14 | g.94378515T= | CA2155953397 | SERPINA1 | c.1191A= (p.Leu397=) c.*490A= (n.*490A=) | |
| 14 | g.94378516A= | CA2155953398 | SERPINA1 | c.1190T= (p.Leu397=) c.*489T= (n.*489T=) | |
| 14 | g.94378516A>C | CA390847535 | SERPINA1 | c.1190T>G (p.Leu397Ter) c.*489T>G (n.*489T>G) | |
| 14 | g.94378516A>G | CA390847538 | SERPINA1 | c.1190T>C (p.Leu397Ser) c.*489T>C (n.*489T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378516A>T | CA390847533 | SERPINA1 | c.1190T>A (p.Leu397Ter) c.*489T>A (n.*489T>A) | |
| 14 | g.94378520_94378522del | CA645582230 | SERPINA1 | c.1188_1190del (p.Phe396del) c.*487_*489del (n.*487_*489del) | COSMIC |
| 14 | g.94378517A>C | CA390847542 | SERPINA1 | c.1189T>G (p.Leu397Val) c.*488T>G (n.*488T>G) | |
| 14 | g.94378517A>G | CA487621116 | SERPINA1 | c.1189T>C (p.Leu397=) c.*488T>C (n.*488T>C) | gnomAD v4 |
| 14 | g.94378517A>T | CA390847540 | SERPINA1 | c.1189T>A (p.Leu397Ile) c.*488T>A (n.*488T>A) | |
| 14 | g.94378518G>A | CA265860613 | SERPINA1 | c.1188C>T (p.Phe396=) c.*487C>T (n.*487C>T) | dbSNP |
| 14 | g.94378518G>C | CA390847545 | SERPINA1 | c.1188C>G (p.Phe396Leu) c.*487C>G (n.*487C>G) | |
| 14 | g.94378518G= | CA2155953399 | SERPINA1 | c.1188C= (p.Phe396=) c.*487C= (n.*487C=) | |
| 14 | g.94378518G>T | CA390847546 | SERPINA1 | c.1188C>A (p.Phe396Leu) c.*487C>A (n.*487C>A) | |
| 14 | g.94378519A>C | CA390847547 | SERPINA1 | c.1187T>G (p.Phe396Cys) c.*486T>G (n.*486T>G) | |
| 14 | g.94378519A>G | CA390847548 | SERPINA1 | c.1187T>C (p.Phe396Ser) c.*486T>C (n.*486T>C) | |
| 14 | g.94378519A>T | CA390847549 | SERPINA1 | c.1187T>A (p.Phe396Tyr) c.*486T>A (n.*486T>A) | |
| 14 | g.94378520A>C | CA390847550 | SERPINA1 | c.1186T>G (p.Phe396Val) c.*485T>G (n.*485T>G) | |
| 14 | g.94378520A>G | CA390847551 | SERPINA1 | c.1186T>C (p.Phe396Leu) c.*485T>C (n.*485T>C) | gnomAD v4 |
| 14 | g.94378520A>T | CA390847552 | SERPINA1 | c.1186T>A (p.Phe396Ile) c.*485T>A (n.*485T>A) | |
| 14 | g.94378521G>A | CA487621117 | SERPINA1 | c.1185C>T (p.Val395=) c.*484C>T (n.*484C>T) | |
| 14 | g.94378521G>C | CA487621118 | SERPINA1 | c.1185C>G (p.Val395=) c.*484C>G (n.*484C>G) | |
| 14 | g.94378521G= | CA2155953400 | SERPINA1 | c.1185C= (p.Val395=) c.*484C= (n.*484C=) | |
| 14 | g.94378521G>T | CA487621119 | SERPINA1 | c.1185C>A (p.Val395=) c.*484C>A (n.*484C>A) | dbSNP |
| 14 | g.94378522A>C | CA390847553 | SERPINA1 | c.1184T>G (p.Val395Gly) c.*483T>G (n.*483T>G) | |
| 14 | g.94378522A>G | CA390847554 | SERPINA1 | c.1184T>C (p.Val395Ala) c.*483T>C (n.*483T>C) | |
| 14 | g.94378522A>T | CA390847555 | SERPINA1 | c.1184T>A (p.Val395Asp) c.*483T>A (n.*483T>A) | |
| 14 | g.94378523C>A | CA390847558 | SERPINA1 | c.1183G>T (p.Val395Phe) c.*482G>T (n.*482G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378523C= | CA2155953401 | SERPINA1 | c.1183G= (p.Val395=) c.*482G= (n.*482G=) | |
| 14 | g.94378523C>G | CA390847556 | SERPINA1 | c.1183G>C (p.Val395Leu) c.*482G>C (n.*482G>C) | |
| 14 | g.94378523C>T | CA390847557 | SERPINA1 | c.1183G>A (p.Val395Ile) c.*482G>A (n.*482G>A) | |
| 14 | g.94378524A>C | CA390847559 | SERPINA1 | c.1182T>G (p.Phe394Leu) c.*481T>G (n.*481T>G) | |
| 14 | g.94378524A>G | CA487621120 | SERPINA1 | c.1182T>C (p.Phe394=) c.*481T>C (n.*481T>C) | |
| 14 | g.94378524A>T | CA390847560 | SERPINA1 | c.1182T>A (p.Phe394Leu) c.*481T>A (n.*481T>A) | COSMIC |
| 14 | g.94378526del | CA2626279489 | SERPINA1 | c.1182del (p.Phe394LeufsTer4) c.*481del (n.*481del) | gnomAD v4 |
| 14 | g.94378525A>C | CA390847561 | SERPINA1 | c.1181T>G (p.Phe394Cys) c.*480T>G (n.*480T>G) | |
| 14 | g.94378525A>G | CA390847562 | SERPINA1 | c.1181T>C (p.Phe394Ser) c.*480T>C (n.*480T>C) | |
| 14 | g.94378525A>T | CA390847563 | SERPINA1 | c.1181T>A (p.Phe394Tyr) c.*480T>A (n.*480T>A) | |
| 14 | g.94378526A>C | CA390847564 | SERPINA1 | c.1180T>G (p.Phe394Val) c.*479T>G (n.*479T>G) | |
| 14 | g.94378526A>G | CA390847565 | SERPINA1 | c.1180T>C (p.Phe394Leu) c.*479T>C (n.*479T>C) | |
| 14 | g.94378526A>T | CA390847566 | SERPINA1 | c.1180T>A (p.Phe394Ile) c.*479T>A (n.*479T>A) | |
| 14 | g.94378527G>A | CA7327254 | SERPINA1 | c.1179C>T (p.Pro393=) c.*478C>T (n.*478C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378527G>C | CA487621125 | SERPINA1 | c.1179C>G (p.Pro393=) c.*478C>G (n.*478C>G) | gnomAD v4 |
| 14 | g.94378527G= | CA2155953402 | SERPINA1 | c.1179C= (p.Pro393=) c.*478C= (n.*478C=) | |
| 14 | g.94378527G>T | CA487621123 | SERPINA1 | c.1179C>A (p.Pro393=) c.*478C>A (n.*478C>A) | |
| 14 | g.94378527_94378528delinsAA | CA645582231 | SERPINA1 | c.1178_1179delinsTT (p.Pro393Leu) c.*477_*478delinsTT (n.*477_*478delinsTT) | COSMIC |
| 14 | g.94378529del | CA2695199864 | SERPINA1 | c.1179del (p.Phe394LeufsTer4) c.*478del (n.*478del) | ClinVar |
| 14 | g.94378528G>A | CA127662 | SERPINA1 | c.1178C>T (p.Pro393Leu) c.*477C>T (n.*477C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378528G>C | CA265860619 | SERPINA1 | c.1178C>G (p.Pro393Arg) c.*477C>G (n.*477C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378528G= | CA2155953403 | SERPINA1 | c.1178C= (p.Pro393=) c.*477C= (n.*477C=) | |
| 14 | g.94378528G>T | CA7327255 | SERPINA1 | c.1178C>A (p.Pro393His) c.*477C>A (n.*477C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94378529G>A | CA7327256 | SERPINA1 | c.1177C>T (p.Pro393Ser) c.*476C>T (n.*476C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378529G>C | CA390847567 | SERPINA1 | c.1177C>G (p.Pro393Ala) c.*476C>G (n.*476C>G) | gnomAD v4 |
| 14 | g.94378529G= | CA2155953404 | SERPINA1 | c.1177C= (p.Pro393=) c.*476C= (n.*476C=) | |
| 14 | g.94378529G>T | CA350451 | SERPINA1 | c.1177C>A (p.Pro393Thr) c.*476C>A (n.*476C>A) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94378530T>A | CA390847568 | SERPINA1 | c.1176A>T (p.Lys392Asn) c.*475A>T (n.*475A>T) | |
| 14 | g.94378530T>C | CA487621126 | SERPINA1 | c.1176A>G (p.Lys392=) c.*475A>G (n.*475A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378530T>G | CA390847569 | SERPINA1 | c.1176A>C (p.Lys392Asn) c.*475A>C (n.*475A>C) | COSMIC |
| 14 | g.94378530T= | CA2155953405 | SERPINA1 | c.1176A= (p.Lys392=) c.*475A= (n.*475A=) | |
| 14 | g.94378531T>A | CA390847570 | SERPINA1 | c.1175A>T (p.Lys392Ile) c.*474A>T (n.*474A>T) | |
| 14 | g.94378531T>C | CA390847571 | SERPINA1 | c.1175A>G (p.Lys392Arg) c.*474A>G (n.*474A>G) | gnomAD v2 |
| 14 | g.94378531T>G | CA390847572 | SERPINA1 | c.1175A>C (p.Lys392Thr) c.*474A>C (n.*474A>C) | |
| 14 | g.94378532T>A | CA390847573 | SERPINA1 | c.1174A>T (p.Lys392Ter) c.*473A>T (n.*473A>T) | |
| 14 | g.94378532T>C | CA390847574 | SERPINA1 | c.1174A>G (p.Lys392Glu) c.*473A>G (n.*473A>G) | |
| 14 | g.94378532T>G | CA390847575 | SERPINA1 | c.1174A>C (p.Lys392Gln) c.*473A>C (n.*473A>C) | gnomAD v2 gnomAD v4 |
| 14 | g.94378533G>A | CA265860623 | SERPINA1 | c.1173C>T (p.Asn391=) c.*472C>T (n.*472C>T) | dbSNP gnomAD v4 |
| 14 | g.94378533G>C | CA390847576 | SERPINA1 | c.1173C>G (p.Asn391Lys) c.*472C>G (n.*472C>G) | |
| 14 | g.94378533G= | CA2155953406 | SERPINA1 | c.1173C= (p.Asn391=) c.*472C= (n.*472C=) | |
| 14 | g.94378533G>T | CA390847577 | SERPINA1 | c.1173C>A (p.Asn391Lys) c.*472C>A (n.*472C>A) | |
| 14 | g.94378534T>A | CA390847578 | SERPINA1 | c.1172A>T (p.Asn391Ile) c.*471A>T (n.*471A>T) | |
| 14 | g.94378534T>C | CA390847579 | SERPINA1 | c.1172A>G (p.Asn391Ser) c.*471A>G (n.*471A>G) | |
| 14 | g.94378534T>G | CA390847580 | SERPINA1 | c.1172A>C (p.Asn391Thr) c.*471A>C (n.*471A>C) | |
| 14 | g.94378535T>A | CA390847583 | SERPINA1 | c.1171A>T (p.Asn391Tyr) c.*470A>T (n.*470A>T) | |
| 14 | g.94378535T>C | CA390847581 | SERPINA1 | c.1171A>G (p.Asn391Asp) c.*470A>G (n.*470A>G) | |
| 14 | g.94378535T>G | CA390847582 | SERPINA1 | c.1171A>C (p.Asn391His) c.*470A>C (n.*470A>C) | |
| 14 | g.94378536G>A | CA487621127 | SERPINA1 | c.1170C>T (p.Phe390=) c.*469C>T (n.*469C>T) | |
| 14 | g.94378536G>C | CA390847584 | SERPINA1 | c.1170C>G (p.Phe390Leu) c.*469C>G (n.*469C>G) | |
| 14 | g.94378536G>T | CA390847585 | SERPINA1 | c.1170C>A (p.Phe390Leu) c.*469C>A (n.*469C>A) | |
| 14 | g.94378537A>C | CA390847586 | SERPINA1 | c.1169T>G (p.Phe390Cys) c.*468T>G (n.*468T>G) | |
| 14 | g.94378537A>G | CA390847587 | SERPINA1 | c.1169T>C (p.Phe390Ser) c.*468T>C (n.*468T>C) | |
| 14 | g.94378537A>T | CA390847588 | SERPINA1 | c.1169T>A (p.Phe390Tyr) c.*468T>A (n.*468T>A) | |
| 14 | g.94378538A>C | CA390847589 | SERPINA1 | c.1168T>G (p.Phe390Val) c.*467T>G (n.*467T>G) | |
| 14 | g.94378538A>G | CA390847590 | SERPINA1 | c.1168T>C (p.Phe390Leu) c.*467T>C (n.*467T>C) | |
| 14 | g.94378538A>T | CA390847591 | SERPINA1 | c.1168T>A (p.Phe390Ile) c.*467T>A (n.*467T>A) | |
| 14 | g.94378539C>A | CA390847592 | SERPINA1 | c.1167G>T (p.Lys389Asn) c.*466G>T (n.*466G>T) | |
| 14 | g.94378539C>G | CA390847593 | SERPINA1 | c.1167G>C (p.Lys389Asn) c.*466G>C (n.*466G>C) | |
| 14 | g.94378539C>T | CA487621128 | SERPINA1 | c.1167G>A (p.Lys389=) c.*466G>A (n.*466G>A) | gnomAD v4 |
| 14 | g.94378540T>A | CA390847594 | SERPINA1 | c.1166A>T (p.Lys389Met) c.*465A>T (n.*465A>T) | |
| 14 | g.94378540T>C | CA390847595 | SERPINA1 | c.1166A>G (p.Lys389Arg) c.*465A>G (n.*465A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94378540T>G | CA390847596 | SERPINA1 | c.1166A>C (p.Lys389Thr) c.*465A>C (n.*465A>C) | |
| 14 | g.94378540T= | CA2155953407 | SERPINA1 | c.1166A= (p.Lys389=) c.*465A= (n.*465A=) | |
| 14 | g.94378541T>A | CA390847598 | SERPINA1 | c.1165A>T (p.Lys389Ter) c.*464A>T (n.*464A>T) | |
| 14 | g.94378541T>C | CA390847599 | SERPINA1 | c.1165A>G (p.Lys389Glu) c.*464A>G (n.*464A>G) | |
| 14 | g.94378541T>G | CA390847597 | SERPINA1 | c.1165A>C (p.Lys389Gln) c.*464A>C (n.*464A>C) | |
| 14 | g.94378542G>A | CA487621129 | SERPINA1 | c.1164C>T (p.Val388=) c.*463C>T (n.*463C>T) | |
| 14 | g.94378542G>C | CA487621130 | SERPINA1 | c.1164C>G (p.Val388=) c.*463C>G (n.*463C>G) | |
| 14 | g.94378542G>T | CA487621131 | SERPINA1 | c.1164C>A (p.Val388=) c.*463C>A (n.*463C>A) | |
| 14 | g.94378543A>C | CA390847601 | SERPINA1 | c.1163T>G (p.Val388Gly) c.*462T>G (n.*462T>G) | |
| 14 | g.94378543A>G | CA390847600 | SERPINA1 | c.1163T>C (p.Val388Ala) c.*462T>C (n.*462T>C) | |
| 14 | g.94378543A>T | CA390847602 | SERPINA1 | c.1163T>A (p.Val388Asp) c.*462T>A (n.*462T>A) | |
| 14 | g.94378544C>A | CA390847603 | SERPINA1 | c.1162G>T (p.Val388Phe) c.*461G>T (n.*461G>T) | gnomAD v4 |
| 14 | g.94378544C= | CA2155953408 | SERPINA1 | c.1162G= (p.Val388=) c.*461G= (n.*461G=) | |
| 14 | g.94378544C>G | CA390847605 | SERPINA1 | c.1162G>C (p.Val388Leu) c.*461G>C (n.*461G>C) | dbSNP gnomAD v2 |
| 14 | g.94378544C>T | CA390847604 | SERPINA1 | c.1162G>A (p.Val388Ile) c.*461G>A (n.*461G>A) | |
| 14 | g.94378544_94378545insTGT | CA616114974 | SERPINA1 | c.1161_1162insACA (p.Glu387_Val388insThr) c.*460_*461insACA (n.*460_*461insACA) | dbSNP gnomAD v2 |
| 14 | g.94378545C>A | CA390847606 | SERPINA1 | c.1161G>T (p.Glu387Asp) c.*460G>T (n.*460G>T) | |
| 14 | g.94378545C= | CA2155953409 | SERPINA1 | c.1161G= (p.Glu387=) c.*460G= (n.*460G=) | |
| 14 | g.94378545C>G | CA390847607 | SERPINA1 | c.1161G>C (p.Glu387Asp) c.*460G>C (n.*460G>C) | |
| 14 | g.94378545C>T | CA487621132 | SERPINA1 | c.1161G>A (p.Glu387=) c.*460G>A (n.*460G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378546T>A | CA390847608 | SERPINA1 | c.1160A>T (p.Glu387Val) c.*459A>T (n.*459A>T) | |
| 14 | g.94378546T>C | CA390847610 | SERPINA1 | c.1160A>G (p.Glu387Gly) c.*459A>G (n.*459A>G) | gnomAD v4 |
| 14 | g.94378546T>G | CA390847609 | SERPINA1 | c.1160A>C (p.Glu387Ala) c.*459A>C (n.*459A>C) | |
| 14 | g.94378546_94378553delinsTCGGGGGG | CA2155953410 | SERPINA1 | c.1153_1160delinsCCCCCCGA (p.Pro385=) c.*452_*459delinsCCCCCCGA (n.*452_*459delinsCCCCCCGA) | |
| 14 | g.94378546_94378547insG | CA645582232 | SERPINA1 | c.1159_1160insC (p.Glu387AlafsTer14) c.*458_*459insC (n.*458_*459insC) | COSMIC |
| 14 | g.94378547C>A | CA390847611 | SERPINA1 | c.1159G>T (p.Glu387Ter) c.*458G>T (n.*458G>T) | dbSNP |
| 14 | g.94378547C= | CA2155953411 | SERPINA1 | c.1159G= (p.Glu387=) c.*458G= (n.*458G=) | |
| 14 | g.94378547C>G | CA390847612 | SERPINA1 | c.1159G>C (p.Glu387Gln) c.*458G>C (n.*458G>C) | gnomAD v4 |
| 14 | g.94378547C>T | CA127650 | SERPINA1 | c.1159G>A (p.Glu387Lys) c.*458G>A (n.*458G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94378547_94378548delinsCG | CA2155953412 | SERPINA1 | c.1158_1159delinsCG (p.Pro386=) c.*457_*458delinsCG (n.*457_*458delinsCG) | |
| 14 | g.94378547_94378553del | CA616114975 | SERPINA1 | c.1153_1159del (p.Pro385ArgfsTer11) c.*452_*458del (n.*452_*458del) | dbSNP gnomAD v2 |
| 14 | g.94378548G>A | CA7327258 | SERPINA1 | c.1158C>T (p.Pro386=) c.*457C>T (n.*457C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378548G>C | CA487621134 | SERPINA1 | c.1158C>G (p.Pro386=) c.*457C>G (n.*457C>G) | gnomAD v4 |
| 14 | g.94378548G= | CA2155953413 | SERPINA1 | c.1158C= (p.Pro386=) c.*457C= (n.*457C=) | |
| 14 | g.94378548G>T | CA487621133 | SERPINA1 | c.1158C>A (p.Pro386=) c.*457C>A (n.*457C>A) | |
| 14 | g.94378554dup | CA274031 | SERPINA1 | c.1158dup (p.Glu387ArgfsTer14) c.*457dup (n.*457dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.[94378554dup;94380925T>A] | CA913203353 | SERPINA1 | c.[863A>T;1158dup] (p.[Glu288Val;Glu387ArgfsTer14]) c.[863A>T;*457dup] ([p.Glu288Val;n.*457dup]) | ClinVar |
| 14 | g.94378554del | CA7327257 | SERPINA1 | c.1158del (p.Glu387ArgfsTer11) c.*457del (n.*457del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94378549G>A | CA265860630 | SERPINA1 | c.1157C>T (p.Pro386Leu) c.*456C>T (n.*456C>T) | dbSNP |
| 14 | g.94378549G>C | CA390847616 | SERPINA1 | c.1157C>G (p.Pro386Arg) c.*456C>G (n.*456C>G) | |
| 14 | g.94378549G= | CA2155953414 | SERPINA1 | c.1157C= (p.Pro386=) c.*456C= (n.*456C=) | |
| 14 | g.94378549G>T | CA265860632 | SERPINA1 | c.1157C>A (p.Pro386His) c.*456C>A (n.*456C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378550G>A | CA7327261 | SERPINA1 | c.1156C>T (p.Pro386Ser) c.*455C>T (n.*455C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378550G>C | CA7327259 | SERPINA1 | c.1156C>G (p.Pro386Ala) c.*455C>G (n.*455C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378550G= | CA2155953415 | SERPINA1 | c.1156C= (p.Pro386=) c.*455C= (n.*455C=) | |
| 14 | g.94378550G>T | CA7327260 | SERPINA1 | c.1156C>A (p.Pro386Thr) c.*455C>A (n.*455C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378550_94378551delinsCA | CA2697554189 | SERPINA1 | c.1155_1156delinsTG (p.Pro386Ala) c.*454_*455delinsTG (n.*454_*455delinsTG) | ClinVar |
| 14 | g.94378551G>A | CA7327262 | SERPINA1 | c.1155C>T (p.Pro385=) c.*454C>T (n.*454C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378551G>C | CA487621135 | SERPINA1 | c.1155C>G (p.Pro385=) c.*454C>G (n.*454C>G) | |
| 14 | g.94378551G= | CA2155953416 | SERPINA1 | c.1155C= (p.Pro385=) c.*454C= (n.*454C=) | |
| 14 | g.94378551G>T | CA487621136 | SERPINA1 | c.1155C>A (p.Pro385=) c.*454C>A (n.*454C>A) | |
| 14 | g.94378552G>A | CA390847626 | SERPINA1 | c.1154C>T (p.Pro385Leu) c.*453C>T (n.*453C>T) | gnomAD v4 |
| 14 | g.94378552G>C | CA390847628 | SERPINA1 | c.1154C>G (p.Pro385Arg) c.*453C>G (n.*453C>G) | gnomAD v4 |
| 14 | g.94378552G>T | CA390847631 | SERPINA1 | c.1154C>A (p.Pro385His) c.*453C>A (n.*453C>A) | |
| 14 | g.94378553G>A | CA265860638 | SERPINA1 | c.1153C>T (p.Pro385Ser) c.*452C>T (n.*452C>T) | dbSNP gnomAD v4 |
| 14 | g.94378553G>C | CA390847635 | SERPINA1 | c.1153C>G (p.Pro385Ala) c.*452C>G (n.*452C>G) | dbSNP gnomAD v4 |
| 14 | g.94378553G= | CA2155953417 | SERPINA1 | c.1153C= (p.Pro385=) c.*452C= (n.*452C=) | |
| 14 | g.94378553G>T | CA390847637 | SERPINA1 | c.1153C>A (p.Pro385Thr) c.*452C>A (n.*452C>A) | dbSNP |
| 14 | g.94378554G>A | CA265860640 | SERPINA1 | c.1152C>T (p.Ile384=) c.*451C>T (n.*451C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378554G>C | CA390847640 | SERPINA1 | c.1152C>G (p.Ile384Met) c.*451C>G (n.*451C>G) | dbSNP gnomAD v4 |
| 14 | g.94378554G= | CA2155953418 | SERPINA1 | c.1152C= (p.Ile384=) c.*451C= (n.*451C=) | |
| 14 | g.94378554G>T | CA487621137 | SERPINA1 | c.1152C>A (p.Ile384=) c.*451C>A (n.*451C>A) | dbSNP |
| 14 | g.94378555A= | CA2155953419 | SERPINA1 | c.1151T= (p.Ile384=) c.*450T= (n.*450T=) | |
| 14 | g.94378555A>C | CA390847645 | SERPINA1 | c.1151T>G (p.Ile384Ser) c.*450T>G (n.*450T>G) | |
| 14 | g.94378555A>G | CA390847647 | SERPINA1 | c.1151T>C (p.Ile384Thr) c.*450T>C (n.*450T>C) | |
| 14 | g.94378555A>T | CA390847649 | SERPINA1 | c.1151T>A (p.Ile384Asn) c.*450T>A (n.*450T>A) | |
| 14 | g.94378556T>A | CA390847652 | SERPINA1 | c.1150A>T (p.Ile384Phe) c.*449A>T (n.*449A>T) | |
| 14 | g.94378556T>C | CA390847654 | SERPINA1 | c.1150A>G (p.Ile384Val) c.*449A>G (n.*449A>G) | |
| 14 | g.94378556T>G | CA390847656 | SERPINA1 | c.1150A>C (p.Ile384Leu) c.*449A>C (n.*449A>C) | |
| 14 | g.94378557_94378558insCTTA | CA616114979 | SERPINA1 | c.1150_1151insAGTA (p.Ile384LysfsTer18) c.*449_*450insAGTA (n.*449_*450insAGTA) | dbSNP gnomAD v2 |
| 14 | g.94378557A>C | CA487621138 | SERPINA1 | c.1149T>G (p.Ser383=) c.*448T>G (n.*448T>G) | |
| 14 | g.94378557A>G | CA487621139 | SERPINA1 | c.1149T>C (p.Ser383=) c.*448T>C (n.*448T>C) | |
| 14 | g.94378557A>T | CA487621140 | SERPINA1 | c.1149T>A (p.Ser383=) c.*448T>A (n.*448T>A) | |
| 14 | g.94378558G>A | CA390847660 | SERPINA1 | c.1148C>T (p.Ser383Phe) c.*447C>T (n.*447C>T) | |
| 14 | g.94378558G>C | CA390847661 | SERPINA1 | c.1148C>G (p.Ser383Cys) c.*447C>G (n.*447C>G) | |
| 14 | g.94378558G>T | CA390847664 | SERPINA1 | c.1148C>A (p.Ser383Tyr) c.*447C>A (n.*447C>A) | COSMIC |
| 14 | g.94378559A= | CA2155953420 | SERPINA1 | c.1147T= (p.Ser383=) c.*446T= (n.*446T=) | |
| 14 | g.94378559A>C | CA7327263 | SERPINA1 | c.1147T>G (p.Ser383Ala) c.*446T>G (n.*446T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378559A>G | CA390847668 | SERPINA1 | c.1147T>C (p.Ser383Pro) c.*446T>C (n.*446T>C) | |
| 14 | g.94378559A>T | CA390847670 | SERPINA1 | c.1147T>A (p.Ser383Thr) c.*446T>A (n.*446T>A) | |
| 14 | g.94378560C>A | CA390847673 | SERPINA1 | c.1146G>T (p.Met382Ile) c.*445G>T (n.*445G>T) | |
| 14 | g.94378560C= | CA2155953421 | SERPINA1 | c.1146G= (p.Met382=) c.*445G= (n.*445G=) | |
| 14 | g.94378560C>G | CA390847676 | SERPINA1 | c.1146G>C (p.Met382Ile) c.*445G>C (n.*445G>C) | |
| 14 | g.94378560C>T | CA7327264 | SERPINA1 | c.1146G>A (p.Met382Ile) c.*445G>A (n.*445G>A) | dbSNP ExAC gnomAD v2 |
| 14 | g.94378560dup | CA616114980 | SERPINA1 | c.1146dup (p.Ser383ValfsTer18) c.*445dup (n.*445dup) | dbSNP gnomAD v2 |
| 14 | g.94378561A= | CA2155953422 | SERPINA1 | c.1145T= (p.Met382=) c.*444T= (n.*444T=) | |
| 14 | g.94378561A>C | CA127707 | SERPINA1 | c.1145T>G (p.Met382Arg) c.*444T>G (n.*444T>G) | ClinVar dbSNP |
| 14 | g.94378561A>G | CA390847680 | SERPINA1 | c.1145T>C (p.Met382Thr) c.*444T>C (n.*444T>C) | dbSNP |
| 14 | g.94378561A>T | CA390847681 | SERPINA1 | c.1145T>A (p.Met382Lys) c.*444T>A (n.*444T>A) | |
| 14 | g.94378561_94378568delinsATGGGTAT | CA2155953423 | SERPINA1 | c.1138_1145delinsATACCCAT (p.Ile380=) c.*437_*444delinsATACCCAT (n.*437_*444delinsATACCCAT) | |
| 14 | g.94378562T>A | CA265860645 | SERPINA1 | c.1144A>T (p.Met382Leu) c.*443A>T (n.*443A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94378562T>C | CA390847684 | SERPINA1 | c.1144A>G (p.Met382Val) c.*443A>G (n.*443A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94378562T>G | CA390847687 | SERPINA1 | c.1144A>C (p.Met382Leu) c.*443A>C (n.*443A>C) | gnomAD v4 |
| 14 | g.94378562T= | CA2155953424 | SERPINA1 | c.1144A= (p.Met382=) c.*443A= (n.*443A=) | |
| 14 | g.94378562_94378568del | CA616114981 | SERPINA1 | c.1138_1144del (p.Ile380CysfsTer16) c.*437_*443del (n.*437_*443del) | dbSNP gnomAD v2 |
| 14 | g.94378563G>A | CA487621141 | SERPINA1 | c.1143C>T (p.Pro381=) c.*442C>T (n.*442C>T) | gnomAD v4 |
| 14 | g.94378563G>C | CA487621142 | SERPINA1 | c.1143C>G (p.Pro381=) c.*442C>G (n.*442C>G) | |
| 14 | g.94378563G>T | CA487621143 | SERPINA1 | c.1143C>A (p.Pro381=) c.*442C>A (n.*442C>A) | |
| 14 | g.94378564G>A | CA390847690 | SERPINA1 | c.1142C>T (p.Pro381Leu) c.*441C>T (n.*441C>T) | |
| 14 | g.94378564G>C | CA390847692 | SERPINA1 | c.1142C>G (p.Pro381Arg) c.*441C>G (n.*441C>G) | |
| 14 | g.94378564G>T | CA390847694 | SERPINA1 | c.1142C>A (p.Pro381His) c.*441C>A (n.*441C>A) | gnomAD v4 |
| 14 | g.94378565G>A | CA390847697 | SERPINA1 | c.1141C>T (p.Pro381Ser) c.*440C>T (n.*440C>T) | |
| 14 | g.94378565G>C | CA390847699 | SERPINA1 | c.1141C>G (p.Pro381Ala) c.*440C>G (n.*440C>G) | |
| 14 | g.94378565G>T | CA390847701 | SERPINA1 | c.1141C>A (p.Pro381Thr) c.*440C>A (n.*440C>A) | |
| 14 | g.94378566T>A | CA487621144 | SERPINA1 | c.1140A>T (p.Ile380=) c.*439A>T (n.*439A>T) | |
| 14 | g.94378566T>C | CA390847704 | SERPINA1 | c.1140A>G (p.Ile380Met) c.*439A>G (n.*439A>G) | |
| 14 | g.94378566T>G | CA487621145 | SERPINA1 | c.1140A>C (p.Ile380=) c.*439A>C (n.*439A>C) | |
| 14 | g.94378567A>C | CA390847707 | SERPINA1 | c.1139T>G (p.Ile380Arg) c.*438T>G (n.*438T>G) | |
| 14 | g.94378567A>G | CA390847709 | SERPINA1 | c.1139T>C (p.Ile380Thr) c.*438T>C (n.*438T>C) | ClinVar |
| 14 | g.94378567A>T | CA390847711 | SERPINA1 | c.1139T>A (p.Ile380Lys) c.*438T>A (n.*438T>A) |