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.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 |
| 14 | g.94382898C= | CA2155954832 | SERPINA1 | c.340G= (p.Ala114=) c.82G= (p.Ala28=) | |
| 14 | g.94382898C>G | CA390850257 | SERPINA1 | c.340G>C (p.Ala114Pro) c.82G>C (p.Ala28Pro) | |
| 14 | g.94382898C>T | CA390850259 | SERPINA1 | c.340G>A (p.Ala114Thr) c.82G>A (p.Ala28Thr) | |
| 14 | g.94382899C>A | CA390850260 | SERPINA1 | c.339G>T (p.Glu113Asp) c.81G>T (p.Glu27Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382899C= | CA2155954833 | SERPINA1 | c.339G= (p.Glu113=) c.81G= (p.Glu27=) | |
| 14 | g.94382899C>G | CA390850261 | SERPINA1 | c.339G>C (p.Glu113Asp) c.81G>C (p.Glu27Asp) | |
| 14 | g.94382899C>T | CA487841220 | SERPINA1 | c.339G>A (p.Glu113=) c.81G>A (p.Glu27=) | gnomAD v4 |
| 14 | g.94382900T>A | CA390850263 | SERPINA1 | c.338A>T (p.Glu113Val) c.80A>T (p.Glu27Val) | |
| 14 | g.94382900T>C | CA390850265 | SERPINA1 | c.338A>G (p.Glu113Gly) c.80A>G (p.Glu27Gly) | |
| 14 | g.94382900T>G | CA390850267 | SERPINA1 | c.338A>C (p.Glu113Ala) c.80A>C (p.Glu27Ala) | |
| 14 | g.94382901C>A | CA390850268 | SERPINA1 | c.337G>T (p.Glu113Ter) c.79G>T (p.Glu27Ter) | |
| 14 | g.94382901C= | CA2155954834 | SERPINA1 | c.337G= (p.Glu113=) c.79G= (p.Glu27=) | |
| 14 | g.94382901C>G | CA390850270 | SERPINA1 | c.337G>C (p.Glu113Gln) c.79G>C (p.Glu27Gln) | |
| 14 | g.94382901C>T | CA7327512 | SERPINA1 | c.337G>A (p.Glu113Lys) c.79G>A (p.Glu27Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382902C>A | CA487841230 | SERPINA1 | c.336G>T (p.Pro112=) c.78G>T (p.Pro26=) | |
| 14 | g.94382902C= | CA2155954835 | SERPINA1 | c.336G= (p.Pro112=) c.78G= (p.Pro26=) | |
| 14 | g.94382902C>G | CA487841231 | SERPINA1 | c.336G>C (p.Pro112=) c.78G>C (p.Pro26=) | |
| 14 | g.94382902C>T | CA7327513 | SERPINA1 | c.336G>A (p.Pro112=) c.78G>A (p.Pro26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382903G>A | CA7327514 | SERPINA1 | c.335C>T (p.Pro112Leu) c.77C>T (p.Pro26Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382903G>C | CA390850273 | SERPINA1 | c.335C>G (p.Pro112Arg) c.77C>G (p.Pro26Arg) | |
| 14 | g.94382903G= | CA2155954836 | SERPINA1 | c.335C= (p.Pro112=) c.77C= (p.Pro26=) | |
| 14 | g.94382903G>T | CA390850274 | SERPINA1 | c.335C>A (p.Pro112Gln) c.77C>A (p.Pro26Gln) | |
| 14 | g.94382904G>A | CA390850277 | SERPINA1 | c.334C>T (p.Pro112Ser) c.76C>T (p.Pro26Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382904G>C | CA390850278 | SERPINA1 | c.334C>G (p.Pro112Ala) c.76C>G (p.Pro26Ala) | |
| 14 | g.94382904G= | CA2155954837 | SERPINA1 | c.334C= (p.Pro112=) c.76C= (p.Pro26=) | |
| 14 | g.94382904G>T | CA10606617 | SERPINA1 | c.334C>A (p.Pro112Thr) c.76C>A (p.Pro26Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382905A= | CA2155954838 | SERPINA1 | c.333T= (p.Ile111=) c.75T= (p.Ile25=) | |
| 14 | g.94382905A>C | CA10641355 | SERPINA1 | c.333T>G (p.Ile111Met) c.75T>G (p.Ile25Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382905A>G | CA487841235 | SERPINA1 | c.333T>C (p.Ile111=) c.75T>C (p.Ile25=) | |
| 14 | g.94382905A>T | CA487841234 | SERPINA1 | c.333T>A (p.Ile111=) c.75T>A (p.Ile25=) | |
| 14 | g.94382906A>C | CA390850282 | SERPINA1 | c.332T>G (p.Ile111Ser) c.74T>G (p.Ile25Ser) | |
| 14 | g.94382906A>G | CA390850283 | SERPINA1 | c.332T>C (p.Ile111Thr) c.74T>C (p.Ile25Thr) | gnomAD v4 |
| 14 | g.94382906A>T | CA390850285 | SERPINA1 | c.332T>A (p.Ile111Asn) c.74T>A (p.Ile25Asn) | |
| 14 | g.94382907T>A | CA390850287 | SERPINA1 | c.331A>T (p.Ile111Phe) c.73A>T (p.Ile25Phe) | |
| 14 | g.94382907T>C | CA390850289 | SERPINA1 | c.331A>G (p.Ile111Val) c.73A>G (p.Ile25Val) | gnomAD v4 |
| 14 | g.94382907T>G | CA390850290 | SERPINA1 | c.331A>C (p.Ile111Leu) c.73A>C (p.Ile25Leu) | |
| 14 | g.94382908C>A | CA390850292 | SERPINA1 | c.330G>T (p.Glu110Asp) c.72G>T (p.Glu24Asp) | gnomAD v4 |
| 14 | g.94382908C>G | CA390850294 | SERPINA1 | c.330G>C (p.Glu110Asp) c.72G>C (p.Glu24Asp) | |
| 14 | g.94382908C>T | CA487841243 | SERPINA1 | c.330G>A (p.Glu110=) c.72G>A (p.Glu24=) | |
| 14 | g.94382909T>A | CA390850298 | SERPINA1 | c.329A>T (p.Glu110Val) c.71A>T (p.Glu24Val) | |
| 14 | g.94382909T>C | CA390850297 | SERPINA1 | c.329A>G (p.Glu110Gly) c.71A>G (p.Glu24Gly) | |
| 14 | g.94382909T>G | CA390850295 | SERPINA1 | c.329A>C (p.Glu110Ala) c.71A>C (p.Glu24Ala) | |
| 14 | g.94382910C>A | CA390850300 | SERPINA1 | c.328G>T (p.Glu110Ter) c.70G>T (p.Glu24Ter) | |
| 14 | g.94382910C>G | CA390850302 | SERPINA1 | c.328G>C (p.Glu110Gln) c.70G>C (p.Glu24Gln) | |
| 14 | g.94382910C>T | CA390850303 | SERPINA1 | c.328G>A (p.Glu110Lys) c.70G>A (p.Glu24Lys) | COSMIC |
| 14 | g.94382911C>A | CA487841244 | SERPINA1 | c.327G>T (p.Thr109=) c.69G>T (p.Thr23=) | dbSNP |
| 14 | g.94382911C= | CA2155954839 | SERPINA1 | c.327G= (p.Thr109=) c.69G= (p.Thr23=) | |
| 14 | g.94382911C>G | CA487841247 | SERPINA1 | c.327G>C (p.Thr109=) c.69G>C (p.Thr23=) | |
| 14 | g.94382911C>T | CA7327515 | SERPINA1 | c.327G>A (p.Thr109=) c.69G>A (p.Thr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382912G>A | CA127741 | SERPINA1 | c.326C>T (p.Thr109Met) c.68C>T (p.Thr23Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382912G>C | CA390850307 | SERPINA1 | c.326C>G (p.Thr109Arg) c.68C>G (p.Thr23Arg) | |
| 14 | g.94382912G= | CA2155954840 | SERPINA1 | c.326C= (p.Thr109=) c.68C= (p.Thr23=) | |
| 14 | g.94382912G>T | CA390850308 | SERPINA1 | c.326C>A (p.Thr109Lys) c.68C>A (p.Thr23Lys) | |
| 14 | g.94382913T>A | CA390850309 | SERPINA1 | c.325A>T (p.Thr109Ser) c.67A>T (p.Thr23Ser) | |
| 14 | g.94382913T>C | CA390850310 | SERPINA1 | c.325A>G (p.Thr109Ala) c.67A>G (p.Thr23Ala) | |
| 14 | g.94382913T>G | CA390850311 | SERPINA1 | c.325A>C (p.Thr109Pro) c.67A>C (p.Thr23Pro) | gnomAD v4 |
| 14 | g.94382914G>A | CA487841253 | SERPINA1 | c.324C>T (p.Leu108=) c.66C>T (p.Leu22=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382914G>C | CA487841254 | SERPINA1 | c.324C>G (p.Leu108=) c.66C>G (p.Leu22=) | |
| 14 | g.94382914G= | CA2155954841 | SERPINA1 | c.324C= (p.Leu108=) c.66C= (p.Leu22=) | |
| 14 | g.94382914G>T | CA487841255 | SERPINA1 | c.324C>A (p.Leu108=) c.66C>A (p.Leu22=) | |
| 14 | g.94382915A= | CA2155954842 | SERPINA1 | c.323T= (p.Leu108=) c.65T= (p.Leu22=) | |
| 14 | g.94382915A>C | CA265864158 | SERPINA1 | c.323T>G (p.Leu108Arg) c.65T>G (p.Leu22Arg) | dbSNP gnomAD v4 |
| 14 | g.94382915A>G | CA390850312 | SERPINA1 | c.323T>C (p.Leu108Pro) c.65T>C (p.Leu22Pro) | |
| 14 | g.94382915A>T | CA390850313 | SERPINA1 | c.323T>A (p.Leu108His) c.65T>A (p.Leu22His) | dbSNP |
| 14 | g.94382916G>A | CA390850315 | SERPINA1 | c.322C>T (p.Leu108Phe) c.64C>T (p.Leu22Phe) | |
| 14 | g.94382916G>C | CA265864160 | SERPINA1 | c.322C>G (p.Leu108Val) c.64C>G (p.Leu22Val) | dbSNP gnomAD v4 |
| 14 | g.94382916G= | CA2155954843 | SERPINA1 | c.322C= (p.Leu108=) c.64C= (p.Leu22=) | |
| 14 | g.94382916G>T | CA390850314 | SERPINA1 | c.322C>A (p.Leu108Ile) c.64C>A (p.Leu22Ile) | |
| 14 | g.94382917G>A | CA487841263 | SERPINA1 | c.321C>T (p.Asn107=) c.63C>T (p.Asn21=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94382917G>C | CA390850316 | SERPINA1 | c.321C>G (p.Asn107Lys) c.63C>G (p.Asn21Lys) | |
| 14 | g.94382917G= | CA2155954844 | SERPINA1 | c.321C= (p.Asn107=) c.63C= (p.Asn21=) | |
| 14 | g.94382917G>T | CA390850317 | SERPINA1 | c.321C>A (p.Asn107Lys) c.63C>A (p.Asn21Lys) | |
| 14 | g.94382918T>A | CA390850318 | SERPINA1 | c.320A>T (p.Asn107Ile) c.62A>T (p.Asn21Ile) | |
| 14 | g.94382918T>C | CA390850319 | SERPINA1 | c.320A>G (p.Asn107Ser) c.62A>G (p.Asn21Ser) | |
| 14 | g.94382918T>G | CA390850320 | SERPINA1 | c.320A>C (p.Asn107Thr) c.62A>C (p.Asn21Thr) | |
| 14 | g.94382919T>A | CA390850321 | SERPINA1 | c.319A>T (p.Asn107Tyr) c.61A>T (p.Asn21Tyr) | |
| 14 | g.94382919T>C | CA390850322 | SERPINA1 | c.319A>G (p.Asn107Asp) c.61A>G (p.Asn21Asp) | |
| 14 | g.94382919T>G | CA390850323 | SERPINA1 | c.319A>C (p.Asn107His) c.61A>C (p.Asn21His) | |
| 14 | g.94382920G>A | CA487841277 | SERPINA1 | c.318C>T (p.Phe106=) c.60C>T (p.Phe20=) | ClinVar dbSNP gnomAD v2 COSMIC |
| 14 | g.94382920G>C | CA390850324 | SERPINA1 | c.318C>G (p.Phe106Leu) c.60C>G (p.Phe20Leu) | |
| 14 | g.94382920G= | CA2155954845 | SERPINA1 | c.318C= (p.Phe106=) c.60C= (p.Phe20=) | |
| 14 | g.94382920G>T | CA390850325 | SERPINA1 | c.318C>A (p.Phe106Leu) c.60C>A (p.Phe20Leu) | dbSNP |
| 14 | g.94382921A>C | CA390850326 | SERPINA1 | c.317T>G (p.Phe106Cys) c.59T>G (p.Phe20Cys) | |
| 14 | g.94382921A>G | CA390850327 | SERPINA1 | c.317T>C (p.Phe106Ser) c.59T>C (p.Phe20Ser) | |
| 14 | g.94382921A>T | CA390850328 | SERPINA1 | c.317T>A (p.Phe106Tyr) c.59T>A (p.Phe20Tyr) | |
| 14 | g.94382922A>C | CA390850331 | SERPINA1 | c.316T>G (p.Phe106Val) c.58T>G (p.Phe20Val) | |
| 14 | g.94382922A>G | CA390850330 | SERPINA1 | c.316T>C (p.Phe106Leu) c.58T>C (p.Phe20Leu) | |
| 14 | g.94382922A>T | CA390850329 | SERPINA1 | c.316T>A (p.Phe106Ile) c.58T>A (p.Phe20Ile) | |
| 14 | g.94382923A>C | CA390850332 | SERPINA1 | c.315T>G (p.Asn105Lys) c.57T>G (p.Asn19Lys) | |
| 14 | g.94382923A>G | CA487841283 | SERPINA1 | c.315T>C (p.Asn105=) c.57T>C (p.Asn19=) | |
| 14 | g.94382923A>T | CA390850333 | SERPINA1 | c.315T>A (p.Asn105Lys) c.57T>A (p.Asn19Lys) | |
| 14 | g.94382924T>A | CA390850334 | SERPINA1 | c.314A>T (p.Asn105Ile) c.56A>T (p.Asn19Ile) | |
| 14 | g.94382924T>C | CA390850335 | SERPINA1 | c.314A>G (p.Asn105Ser) c.56A>G (p.Asn19Ser) | |
| 14 | g.94382924T>G | CA390850336 | SERPINA1 | c.314A>C (p.Asn105Thr) c.56A>C (p.Asn19Thr) | |
| 14 | g.94382925T>A | CA390850337 | SERPINA1 | c.313A>T (p.Asn105Tyr) c.55A>T (p.Asn19Tyr) | |
| 14 | g.94382925T>C | CA7327516 | SERPINA1 | c.313A>G (p.Asn105Asp) c.55A>G (p.Asn19Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382925T>G | CA390850338 | SERPINA1 | c.313A>C (p.Asn105His) c.55A>C (p.Asn19His) | |
| 14 | g.94382925T= | CA2155954846 | SERPINA1 | c.313A= (p.Asn105=) c.55A= (p.Asn19=) | |
| 14 | g.94382926C>A | CA487841290 | SERPINA1 | c.312G>T (p.Leu104=) c.54G>T (p.Leu18=) | |
| 14 | g.94382926C>G | CA487841289 | SERPINA1 | c.312G>C (p.Leu104=) c.54G>C (p.Leu18=) | |
| 14 | g.94382926C>T | CA487841288 | SERPINA1 | c.312G>A (p.Leu104=) c.54G>A (p.Leu18=) | |
| 14 | g.94382927A>C | CA390850339 | SERPINA1 | c.311T>G (p.Leu104Arg) c.53T>G (p.Leu18Arg) | |
| 14 | g.94382927A>G | CA390850340 | SERPINA1 | c.311T>C (p.Leu104Pro) c.53T>C (p.Leu18Pro) | |
| 14 | g.94382927A>T | CA390850341 | SERPINA1 | c.311T>A (p.Leu104Gln) c.53T>A (p.Leu18Gln) | |
| 14 | g.94382928G>A | CA487841292 | SERPINA1 | c.310C>T (p.Leu104=) c.52C>T (p.Leu18=) | gnomAD v4 |
| 14 | g.94382928G>C | CA390850342 | SERPINA1 | c.310C>G (p.Leu104Val) c.52C>G (p.Leu18Val) | |
| 14 | g.94382928G>T | CA390850343 | SERPINA1 | c.310C>A (p.Leu104Met) c.52C>A (p.Leu18Met) | |
| 14 | g.94382929G>A | CA487841298 | SERPINA1 | c.309C>T (p.Gly103=) c.51C>T (p.Gly17=) | |
| 14 | g.94382929G>C | CA487841296 | SERPINA1 | c.309C>G (p.Gly103=) c.51C>G (p.Gly17=) | |
| 14 | g.94382929G>T | CA487841295 | SERPINA1 | c.309C>A (p.Gly103=) c.51C>A (p.Gly17=) | |
| 14 | g.94382930C>A | CA390850345 | SERPINA1 | c.308G>T (p.Gly103Val) c.50G>T (p.Gly17Val) | gnomAD v4 |
| 14 | g.94382930C>G | CA390850346 | SERPINA1 | c.308G>C (p.Gly103Ala) c.50G>C (p.Gly17Ala) | |
| 14 | g.94382930C>T | CA390850344 | SERPINA1 | c.308G>A (p.Gly103Asp) c.50G>A (p.Gly17Asp) | |
| 14 | g.94382932del | CA2730054620 | SERPINA1 | c.308del (p.Gly103AlafsTer2) c.50del (p.Gly17AlafsTer2) | dbSNP |
| 14 | g.94382931C>A | CA390850347 | SERPINA1 | c.307G>T (p.Gly103Cys) c.49G>T (p.Gly17Cys) | |
| 14 | g.94382931C>G | CA390850348 | SERPINA1 | c.307G>C (p.Gly103Arg) c.49G>C (p.Gly17Arg) | |
| 14 | g.94382931C>T | CA390850349 | SERPINA1 | c.307G>A (p.Gly103Ser) c.49G>A (p.Gly17Ser) | |
| 14 | g.94382932C>A | CA390850350 | SERPINA1 | c.306G>T (p.Glu102Asp) c.48G>T (p.Glu16Asp) | |
| 14 | g.94382932C>G | CA390850351 | SERPINA1 | c.306G>C (p.Glu102Asp) c.48G>C (p.Glu16Asp) | |
| 14 | g.94382932C>T | CA487841303 | SERPINA1 | c.306G>A (p.Glu102=) c.48G>A (p.Glu16=) | gnomAD v4 |
| 14 | g.94382933T>A | CA390850352 | SERPINA1 | c.305A>T (p.Glu102Val) c.47A>T (p.Glu16Val) | dbSNP |
| 14 | g.94382933T>C | CA390850353 | SERPINA1 | c.305A>G (p.Glu102Gly) c.47A>G (p.Glu16Gly) | gnomAD v4 |
| 14 | g.94382933T>G | CA390850354 | SERPINA1 | c.305A>C (p.Glu102Ala) c.47A>C (p.Glu16Ala) | |
| 14 | g.94382933T= | CA2155954847 | SERPINA1 | c.305A= (p.Glu102=) c.47A= (p.Glu16=) | |
| 14 | g.94382934C>A | CA390850355 | SERPINA1 | c.304G>T (p.Glu102Ter) c.46G>T (p.Glu16Ter) | |
| 14 | g.94382934C= | CA2155954848 | SERPINA1 | c.304G= (p.Glu102=) c.46G= (p.Glu16=) | |
| 14 | g.94382934C>G | CA390850356 | SERPINA1 | c.304G>C (p.Glu102Gln) c.46G>C (p.Glu16Gln) | |
| 14 | g.94382934C>T | CA390850357 | SERPINA1 | c.304G>A (p.Glu102Lys) c.46G>A (p.Glu16Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382935C>A | CA487841308 | SERPINA1 | c.303G>T (p.Leu101=) c.45G>T (p.Leu15=) | |
| 14 | g.94382935C>G | CA487841310 | SERPINA1 | c.303G>C (p.Leu101=) c.45G>C (p.Leu15=) | |
| 14 | g.94382935C>T | CA487841311 | SERPINA1 | c.303G>A (p.Leu101=) c.45G>A (p.Leu15=) | dbSNP |
| 14 | g.94382936A>C | CA390850360 | SERPINA1 | c.302T>G (p.Leu101Arg) c.44T>G (p.Leu15Arg) | |
| 14 | g.94382936A>G | CA390850359 | SERPINA1 | c.302T>C (p.Leu101Pro) c.44T>C (p.Leu15Pro) | |
| 14 | g.94382936A>T | CA390850358 | SERPINA1 | c.302T>A (p.Leu101Gln) c.44T>A (p.Leu15Gln) | |
| 14 | g.94382937G>A | CA487841313 | SERPINA1 | c.301C>T (p.Leu101=) c.43C>T (p.Leu15=) | gnomAD v4 |
| 14 | g.94382937G>C | CA390850361 | SERPINA1 | c.301C>G (p.Leu101Val) c.43C>G (p.Leu15Val) | |
| 14 | g.94382937G>T | CA390850362 | SERPINA1 | c.301C>A (p.Leu101Met) c.43C>A (p.Leu15Met) | |
| 14 | g.94382938G>A | CA487841316 | SERPINA1 | c.300C>T (p.Ile100=) c.42C>T (p.Ile14=) | |
| 14 | g.94382938G>C | CA390850363 | SERPINA1 | c.300C>G (p.Ile100Met) c.42C>G (p.Ile14Met) | |
| 14 | g.94382938G>T | CA487841319 | SERPINA1 | c.300C>A (p.Ile100=) c.42C>A (p.Ile14=) | |
| 14 | g.94382939A= | CA2155954849 | SERPINA1 | c.299T= (p.Ile100=) c.41T= (p.Ile14=) | |
| 14 | g.94382939A>C | CA390850364 | SERPINA1 | c.299T>G (p.Ile100Ser) c.41T>G (p.Ile14Ser) | |
| 14 | g.94382939A>G | CA390850365 | SERPINA1 | c.299T>C (p.Ile100Thr) c.41T>C (p.Ile14Thr) | |
| 14 | g.94382939A>T | CA390850366 | SERPINA1 | c.299T>A (p.Ile100Asn) c.41T>A (p.Ile14Asn) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94382940T>A | CA390850367 | SERPINA1 | c.298A>T (p.Ile100Phe) c.40A>T (p.Ile14Phe) | |
| 14 | g.94382940T>C | CA390850368 | SERPINA1 | c.298A>G (p.Ile100Val) c.40A>G (p.Ile14Val) | gnomAD v4 |
| 14 | g.94382940T>G | CA390850369 | SERPINA1 | c.298A>C (p.Ile100Leu) c.40A>C (p.Ile14Leu) | |
| 14 | g.94382941T>A | CA390850370 | SERPINA1 | c.297A>T (p.Glu99Asp) c.39A>T (p.Glu13Asp) | dbSNP gnomAD v4 |
| 14 | g.94382941T>C | CA487841324 | SERPINA1 | c.297A>G (p.Glu99=) c.39A>G (p.Glu13=) | |
| 14 | g.94382941T>G | CA390850371 | SERPINA1 | c.297A>C (p.Glu99Asp) c.39A>C (p.Glu13Asp) | ClinVar dbSNP |
| 14 | g.94382941T= | CA2155954850 | SERPINA1 | c.297A= (p.Glu99=) c.39A= (p.Glu13=) | |
| 14 | g.94382942T>A | CA390850374 | SERPINA1 | c.296A>T (p.Glu99Val) c.38A>T (p.Glu13Val) | |
| 14 | g.94382942T>C | CA390850373 | SERPINA1 | c.296A>G (p.Glu99Gly) c.38A>G (p.Glu13Gly) | |
| 14 | g.94382942T>G | CA390850372 | SERPINA1 | c.296A>C (p.Glu99Ala) c.38A>C (p.Glu13Ala) | |
| 14 | g.94382943C>A | CA390850375 | SERPINA1 | c.295G>T (p.Glu99Ter) c.37G>T (p.Glu13Ter) | |
| 14 | g.94382943C>G | CA390850377 | SERPINA1 | c.295G>C (p.Glu99Gln) c.37G>C (p.Glu13Gln) | |
| 14 | g.94382943C>T | CA390850376 | SERPINA1 | c.295G>A (p.Glu99Lys) c.37G>A (p.Glu13Lys) | dbSNP |
| 14 | g.94382943_94382944insCACCAACACCCACCAAACACACCCAACC | CA2802663977 | SERPINA1 | c.295_296insGTTGGGTGTGTTTGGTGGGTGTTGGTGG (p.Glu99GlyfsTer29) c.37_38insGTTGGGTGTGTTTGGTGGGTGTTGGTGG (p.Glu13GlyfsTer29) c.295_296insGTTGGGTGTGTTTGGTGGGTGTTGGTGG (p.Glu99GlyfsTer?) | |
| 14 | g.94382944A>C | CA390850378 | SERPINA1 | c.294T>G (p.Asp98Glu) c.36T>G (p.Asp12Glu) | |
| 14 | g.94382944A>G | CA487841329 | SERPINA1 | c.294T>C (p.Asp98=) c.36T>C (p.Asp12=) | ClinVar |
| 14 | g.94382944A>T | CA390850379 | SERPINA1 | c.294T>A (p.Asp98Glu) c.36T>A (p.Asp12Glu) | |
| 14 | g.94382945T>A | CA390850380 | SERPINA1 | c.293A>T (p.Asp98Val) c.35A>T (p.Asp12Val) | dbSNP |
| 14 | g.94382945T>C | CA390850382 | SERPINA1 | c.293A>G (p.Asp98Gly) c.35A>G (p.Asp12Gly) | gnomAD v4 |
| 14 | g.94382945T>G | CA390850381 | SERPINA1 | c.293A>C (p.Asp98Ala) c.35A>C (p.Asp12Ala) | |
| 14 | g.94382945T= | CA2155954851 | SERPINA1 | c.293A= (p.Asp98=) c.35A= (p.Asp12=) | |
| 14 | g.94382946C>A | CA390850383 | SERPINA1 | c.292G>T (p.Asp98Tyr) c.34G>T (p.Asp12Tyr) | |
| 14 | g.94382946C= | CA2155954852 | SERPINA1 | c.292G= (p.Asp98=) c.34G= (p.Asp12=) | |
| 14 | g.94382946C>G | CA390850384 | SERPINA1 | c.292G>C (p.Asp98His) c.34G>C (p.Asp12His) | |
| 14 | g.94382946C>T | CA265864162 | SERPINA1 | c.292G>A (p.Asp98Asn) c.34G>A (p.Asp12Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382946_94382950delinsCGTGA | CA2155954853 | SERPINA1 | c.288_292delinsTCACG (p.Thr96=) c.30_34delinsTCACG (p.Thr10=) | |
| 14 | g.94382947G>A | CA7327517 | SERPINA1 | c.291C>T (p.His97=) c.33C>T (p.His11=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382947G>C | CA265864165 | SERPINA1 | c.291C>G (p.His97Gln) c.33C>G (p.His11Gln) | dbSNP gnomAD v4 |
| 14 | g.94382947G= | CA2155954854 | SERPINA1 | c.291C= (p.His97=) c.33C= (p.His11=) | |
| 14 | g.94382947G>T | CA265864167 | SERPINA1 | c.291C>A (p.His97Gln) c.33C>A (p.His11Gln) | dbSNP gnomAD v4 |
| 14 | g.94382950_94382953del | CA16040627 | SERPINA1 | c.288_291del (p.His97MetfsTer7) c.30_33del (p.His11MetfsTer7) | ClinVar dbSNP |
| 14 | g.94382948T>A | CA390850385 | SERPINA1 | c.290A>T (p.His97Leu) c.32A>T (p.His11Leu) | |
| 14 | g.94382948T>C | CA390850386 | SERPINA1 | c.290A>G (p.His97Arg) c.32A>G (p.His11Arg) | |
| 14 | g.94382948T>G | CA390850387 | SERPINA1 | c.290A>C (p.His97Pro) c.32A>C (p.His11Pro) | |
| 14 | g.94382948dup | CA2155954855 | SERPINA1 | c.290dup (p.His97GlnfsTer3) c.32dup (p.His11GlnfsTer3) | dbSNP |
| 14 | g.94382949G>A | CA390850388 | SERPINA1 | c.289C>T (p.His97Tyr) c.31C>T (p.His11Tyr) | |
| 14 | g.94382949G>C | CA390850389 | SERPINA1 | c.289C>G (p.His97Asp) c.31C>G (p.His11Asp) | |
| 14 | g.94382949G>T | CA390850390 | SERPINA1 | c.289C>A (p.His97Asn) c.31C>A (p.His11Asn) | |
| 14 | g.94382950A= | CA2155954856 | SERPINA1 | c.288T= (p.Thr96=) c.30T= (p.Thr10=) | |
| 14 | g.94382950A>C | CA487841341 | SERPINA1 | c.288T>G (p.Thr96=) c.30T>G (p.Thr10=) | |
| 14 | g.94382950A>G | CA487841342 | SERPINA1 | c.288T>C (p.Thr96=) c.30T>C (p.Thr10=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382950A>T | CA487841343 | SERPINA1 | c.288T>A (p.Thr96=) c.30T>A (p.Thr10=) | |
| 14 | g.94382951G>A | CA390850393 | SERPINA1 | c.287C>T (p.Thr96Ile) c.29C>T (p.Thr10Ile) | dbSNP COSMIC |
| 14 | g.94382951G>C | CA390850392 | SERPINA1 | c.287C>G (p.Thr96Ser) c.29C>G (p.Thr10Ser) | |
| 14 | g.94382951G= | CA2155954857 | SERPINA1 | c.287C= (p.Thr96=) c.29C= (p.Thr10=) | |
| 14 | g.94382951G>T | CA390850391 | SERPINA1 | c.287C>A (p.Thr96Asn) c.29C>A (p.Thr10Asn) | gnomAD v4 |
| 14 | g.94382953_94382954dup | CA2695219662 | SERPINA1 | c.286_287dup (p.His97LeufsTer9) c.28_29dup (p.His11LeufsTer9) | |
| 14 | g.94382952T>A | CA390850394 | SERPINA1 | c.286A>T (p.Thr96Ser) c.28A>T (p.Thr10Ser) | |
| 14 | g.94382952T>C | CA7327518 | SERPINA1 | c.286A>G (p.Thr96Ala) c.28A>G (p.Thr10Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382952T>G | CA390850395 | SERPINA1 | c.286A>C (p.Thr96Pro) c.28A>C (p.Thr10Pro) | |
| 14 | g.94382952T= | CA2155954858 | SERPINA1 | c.286A= (p.Thr96=) c.28A= (p.Thr10=) | |
| 14 | g.94382953G>A | CA487841348 | SERPINA1 | c.285C>T (p.Asp95=) c.27C>T (p.Asp9=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382953G>C | CA390850396 | SERPINA1 | c.285C>G (p.Asp95Glu) c.27C>G (p.Asp9Glu) | |
| 14 | g.94382953G= | CA2155954859 | SERPINA1 | c.285C= (p.Asp95=) c.27C= (p.Asp9=) | |
| 14 | g.94382953G>T | CA265864168 | SERPINA1 | c.285C>A (p.Asp95Glu) c.27C>A (p.Asp9Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382954T>A | CA390850397 | SERPINA1 | c.284A>T (p.Asp95Val) c.26A>T (p.Asp9Val) | |
| 14 | g.94382954T>C | CA390850398 | SERPINA1 | c.284A>G (p.Asp95Gly) c.26A>G (p.Asp9Gly) | |
| 14 | g.94382954T>G | CA390850399 | SERPINA1 | c.284A>C (p.Asp95Ala) c.26A>C (p.Asp9Ala) | |
| 14 | g.94382955C>A | CA390850400 | SERPINA1 | c.283G>T (p.Asp95Tyr) c.25G>T (p.Asp9Tyr) | |
| 14 | g.94382955C= | CA2155954860 | SERPINA1 | c.283G= (p.Asp95=) c.25G= (p.Asp9=) | |
| 14 | g.94382955C>G | CA390850401 | SERPINA1 | c.283G>C (p.Asp95His) c.25G>C (p.Asp9His) | |
| 14 | g.94382955C>T | CA390850402 | SERPINA1 | c.283G>A (p.Asp95Asn) c.25G>A (p.Asp9Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382956A>C | CA487841352 | SERPINA1 | c.282T>G (p.Ala94=) c.24T>G (p.Ala8=) | |
| 14 | g.94382956A>G | CA487841353 | SERPINA1 | c.282T>C (p.Ala94=) c.24T>C (p.Ala8=) | |
| 14 | g.94382956A>T | CA487841354 | SERPINA1 | c.282T>A (p.Ala94=) c.24T>A (p.Ala8=) | |
| 14 | g.94382957G>A | CA390850405 | SERPINA1 | c.281C>T (p.Ala94Val) c.23C>T (p.Ala8Val) | |
| 14 | g.94382957G>C | CA390850404 | SERPINA1 | c.281C>G (p.Ala94Gly) c.23C>G (p.Ala8Gly) | dbSNP |
| 14 | g.94382957G= | CA2155954861 | SERPINA1 | c.281C= (p.Ala94=) c.23C= (p.Ala8=) | |
| 14 | g.94382957G>T | CA390850403 | SERPINA1 | c.281C>A (p.Ala94Asp) c.23C>A (p.Ala8Asp) | |
| 14 | g.94382958C>A | CA390850406 | SERPINA1 | c.280G>T (p.Ala94Ser) c.22G>T (p.Ala8Ser) | gnomAD v4 |
| 14 | g.94382958C= | CA2155954862 | SERPINA1 | c.280G= (p.Ala94=) c.22G= (p.Ala8=) | |
| 14 | g.94382958C>G | CA390850407 | SERPINA1 | c.280G>C (p.Ala94Pro) c.22G>C (p.Ala8Pro) | |
| 14 | g.94382958C>T | CA390850408 | SERPINA1 | c.280G>A (p.Ala94Thr) c.22G>A (p.Ala8Thr) | dbSNP |
| 14 | g.94382959C>A | CA390850409 | SERPINA1 | c.279G>T (p.Lys93Asn) c.21G>T (p.Lys7Asn) | |
| 14 | g.94382959C>G | CA390850410 | SERPINA1 | c.279G>C (p.Lys93Asn) c.21G>C (p.Lys7Asn) | |
| 14 | g.94382959C>T | CA487841359 | SERPINA1 | c.279G>A (p.Lys93=) c.21G>A (p.Lys7=) | ClinVar |
| 14 | g.94382960T>A | CA390850411 | SERPINA1 | c.278A>T (p.Lys93Met) c.278A>T c.20A>T (p.Lys7Met) | |
| 14 | g.94382960T>C | CA390850412 | SERPINA1 | c.278A>G (p.Lys93Arg) c.278A>G c.20A>G (p.Lys7Arg) | |
| 14 | g.94382960T>G | CA390850413 | SERPINA1 | c.278A>C (p.Lys93Thr) c.278A>C c.20A>C (p.Lys7Thr) | |
| 14 | g.94382961T>A | CA390850414 | SERPINA1 | c.277A>T (p.Lys93Ter) c.277A>T c.19A>T (p.Lys7Ter) | |
| 14 | g.94382961T>C | CA390850415 | SERPINA1 | c.277A>G (p.Lys93Glu) c.277A>G c.19A>G (p.Lys7Glu) | |
| 14 | g.94382961T>G | CA390850416 | SERPINA1 | c.277A>C (p.Lys93Gln) c.277A>C c.19A>C (p.Lys7Gln) | |
| 14 | g.94382962G>A | CA487841366 | SERPINA1 | c.276C>T (p.Thr92=) c.18C>T (p.Thr6=) | |
| 14 | g.94382962G>C | CA487841367 | SERPINA1 | c.276C>G (p.Thr92=) c.18C>G (p.Thr6=) | dbSNP gnomAD v2 |
| 14 | g.94382962G= | CA2155954863 | SERPINA1 | c.276C= (p.Thr92=) c.18C= (p.Thr6=) | |
| 14 | g.94382962G>T | CA487841368 | SERPINA1 | c.276C>A (p.Thr92=) c.18C>A (p.Thr6=) | |
| 14 | g.94382963G>A | CA390850419 | SERPINA1 | c.275C>T (p.Thr92Ile) c.17C>T (p.Thr6Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382963G>C | CA390850418 | SERPINA1 | c.275C>G (p.Thr92Ser) c.17C>G (p.Thr6Ser) | dbSNP |
| 14 | g.94382963G= | CA2155954864 | SERPINA1 | c.275C= (p.Thr92=) c.17C= (p.Thr6=) | |
| 14 | g.94382963G>T | CA390850417 | SERPINA1 | c.275C>A (p.Thr92Asn) c.17C>A (p.Thr6Asn) | |
| 14 | g.94382964T>A | CA390850420 | SERPINA1 | c.274A>T (p.Thr92Ser) c.16A>T (p.Thr6Ser) | |
| 14 | g.94382964T>C | CA390850421 | SERPINA1 | c.274A>G (p.Thr92Ala) c.16A>G (p.Thr6Ala) | |
| 14 | g.94382964T>G | CA390850422 | SERPINA1 | c.274A>C (p.Thr92Pro) c.16A>C (p.Thr6Pro) | |
| 14 | g.94382965C>A | CA487841372 | SERPINA1 | c.273G>T (p.Gly91=) c.15G>T (p.Gly5=) | |
| 14 | g.94382965C= | CA2155954865 | SERPINA1 | c.273G= (p.Gly91=) c.15G= (p.Gly5=) | |
| 14 | g.94382965C>G | CA7327519 | SERPINA1 | c.273G>C (p.Gly91=) c.15G>C (p.Gly5=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382965C>T | CA487841373 | SERPINA1 | c.273G>A (p.Gly91=) c.15G>A (p.Gly5=) | dbSNP gnomAD v4 |
| 14 | g.94382968del | CA2695219695 | SERPINA1 | c.273del (p.Thr92ProfsTer13) c.273del (p.Thr92ProfsTer?) c.15del (p.Thr6ProfsTer13) | |
| 14 | g.94382966C>A | CA390850423 | SERPINA1 | c.272G>T (p.Gly91Val) c.14G>T (p.Gly5Val) | |
| 14 | g.94382966C= | CA2155954866 | SERPINA1 | c.272G= (p.Gly91=) c.14G= (p.Gly5=) | |
| 14 | g.94382966C>G | CA390850424 | SERPINA1 | c.272G>C (p.Gly91Ala) c.14G>C (p.Gly5Ala) | |
| 14 | g.94382966C>T | CA127674 | SERPINA1 | c.272G>A (p.Gly91Glu) c.14G>A (p.Gly5Glu) | ClinVar dbSNP |
| 14 | g.94382967C>A | CA390850425 | SERPINA1 | c.271G>T (p.Gly91Trp) c.13G>T (p.Gly5Trp) | |
| 14 | g.94382967C>G | CA390850426 | SERPINA1 | c.271G>C (p.Gly91Arg) c.13G>C (p.Gly5Arg) | |
| 14 | g.94382967C>T | CA390850427 | SERPINA1 | c.271G>A (p.Gly91Arg) c.13G>A (p.Gly5Arg) | COSMIC |
| 14 | g.94382968C>A | CA487841380 | SERPINA1 | c.270G>T (p.Leu90=) c.12G>T (p.Leu4=) | |
| 14 | g.94382968C= | CA2155954867 | SERPINA1 | c.270G= (p.Leu90=) c.12G= (p.Leu4=) | |
| 14 | g.94382968C>G | CA487841382 | SERPINA1 | c.270G>C (p.Leu90=) c.12G>C (p.Leu4=) | |
| 14 | g.94382968C>T | CA487841383 | SERPINA1 | c.270G>A (p.Leu90=) c.12G>A (p.Leu4=) | dbSNP |
| 14 | g.94382969del | CA2626310023 | SERPINA1 | c.269del (p.Leu90ArgfsTer15) c.269del (p.Leu90ArgfsTer?) c.11del (p.Leu4ArgfsTer15) | gnomAD v4 |
| 14 | g.94382969A= | CA2155954868 | SERPINA1 | c.269T= (p.Leu90=) c.11T= (p.Leu4=) | |
| 14 | g.94382969A>C | CA7327520 | SERPINA1 | c.269T>G (p.Leu90Arg) c.11T>G (p.Leu4Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382969A>G | CA390850428 | SERPINA1 | c.269T>C (p.Leu90Pro) c.11T>C (p.Leu4Pro) | dbSNP |
| 14 | g.94382969A>T | CA390850429 | SERPINA1 | c.269T>A (p.Leu90Gln) c.11T>A (p.Leu4Gln) | |
| 14 | g.94382970G>A | CA487841385 | SERPINA1 | c.268C>T (p.Leu90=) c.10C>T (p.Leu4=) | |
| 14 | g.94382970G>C | CA390850431 | SERPINA1 | c.268C>G (p.Leu90Val) c.10C>G (p.Leu4Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382970G= | CA2155954869 | SERPINA1 | c.268C= (p.Leu90=) c.10C= (p.Leu4=) | |
| 14 | g.94382970G>T | CA390850430 | SERPINA1 | c.268C>A (p.Leu90Met) c.10C>A (p.Leu4Met) | COSMIC |
| 14 | g.94382971G>A | CA487841386 | SERPINA1 | c.267C>T (p.Ser89=) c.9C>T (p.Ser3=) | gnomAD v4 COSMIC |
| 14 | g.94382971G>C | CA487841387 | SERPINA1 | c.267C>G (p.Ser89=) c.9C>G (p.Ser3=) | |
| 14 | g.94382971G>T | CA487841388 | SERPINA1 | c.267C>A (p.Ser89=) c.9C>A (p.Ser3=) | |
| 14 | g.94382972G>A | CA390850432 | SERPINA1 | c.266C>T (p.Ser89Phe) c.8C>T (p.Ser3Phe) | gnomAD v4 COSMIC |
| 14 | g.94382972G>C | CA390850434 | SERPINA1 | c.266C>G (p.Ser89Cys) c.8C>G (p.Ser3Cys) | |
| 14 | g.94382972G>T | CA390850433 | SERPINA1 | c.266C>A (p.Ser89Tyr) c.8C>A (p.Ser3Tyr) | |
| 14 | g.94382973A>C | CA390850435 | SERPINA1 | c.265T>G (p.Ser89Ala) c.7T>G (p.Ser3Ala) | |
| 14 | g.94382973A>G | CA390850436 | SERPINA1 | c.265T>C (p.Ser89Pro) c.7T>C (p.Ser3Pro) | |
| 14 | g.94382973A>T | CA390850437 | SERPINA1 | c.265T>A (p.Ser89Thr) c.7T>A (p.Ser3Thr) | |
| 14 | g.94382974G>A | CA487841395 | SERPINA1 | c.264C>T (p.Leu88=) c.6C>T (p.Leu2=) | gnomAD v4 |
| 14 | g.94382974G>C | CA487841393 | SERPINA1 | c.264C>G (p.Leu88=) c.6C>G (p.Leu2=) | |
| 14 | g.94382974G>T | CA487841394 | SERPINA1 | c.264C>A (p.Leu88=) c.6C>A (p.Leu2=) | |
| 14 | g.94382975A>C | CA390850438 | SERPINA1 | c.263T>G (p.Leu88Arg) c.5T>G (p.Leu2Arg) | |
| 14 | g.94382975A>G | CA390850439 | SERPINA1 | c.263T>C (p.Leu88Pro) c.5T>C (p.Leu2Pro) | |
| 14 | g.94382975A>T | CA390850440 | SERPINA1 | c.263T>A (p.Leu88His) c.5T>A (p.Leu2His) | |
| 14 | g.94382976G>A | CA390850441 | SERPINA1 | c.262C>T (p.Leu88Phe) c.4C>T (p.Leu2Phe) | dbSNP gnomAD v4 |
| 14 | g.94382976G>C | CA390850442 | SERPINA1 | c.262C>G (p.Leu88Val) c.4C>G (p.Leu2Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382976G= | CA2155954870 | SERPINA1 | c.262C= (p.Leu88=) c.4C= (p.Leu2=) | |
| 14 | g.94382976G>T | CA390850443 | SERPINA1 | c.262C>A (p.Leu88Ile) c.4C>A (p.Leu2Ile) | |
| 14 | g.94382977C>A | CA390850444 | SERPINA1 | c.261G>T (p.Met87Ile) c.3G>T (p.Met1Ile) | |
| 14 | g.94382977C>G | CA390850445 | SERPINA1 | c.261G>C (p.Met87Ile) c.3G>C (p.Met1Ile) | |
| 14 | g.94382977C>T | CA390850446 | SERPINA1 | c.261G>A (p.Met87Ile) c.3G>A (p.Met1Ile) | |
| 14 | g.94382978A>C | CA390850449 | SERPINA1 | c.260T>G (p.Met87Arg) c.2T>G (p.Met1Arg) | |
| 14 | g.94382978A>G | CA390850447 | SERPINA1 | c.260T>C (p.Met87Thr) c.2T>C (p.Met1Thr) | gnomAD v4 |
| 14 | g.94382978A>T | CA390850448 | SERPINA1 | c.260T>A (p.Met87Lys) c.2T>A (p.Met1Lys) | |
| 14 | g.94382979T>A | CA390850450 | SERPINA1 | c.259A>T (p.Met87Leu) c.1A>T (p.Met1Leu) | |
| 14 | g.94382979T>C | CA390850451 | SERPINA1 | c.259A>G (p.Met87Val) c.1A>G (p.Met1Val) | |
| 14 | g.94382979T>G | CA390850452 | SERPINA1 | c.259A>C (p.Met87Leu) c.1A>C (p.Met1Leu) | |
| 14 | g.94382980T>A | CA487841408 | SERPINA1 | c.258A>T (p.Ala86=) c.-1A>T (n.-1A>T) | dbSNP |
| 14 | g.94382980T>C | CA487841409 | SERPINA1 | c.258A>G (p.Ala86=) c.-1A>G (n.-1A>G) | |
| 14 | g.94382980T>G | CA487841410 | SERPINA1 | c.258A>C (p.Ala86=) c.-1A>C (n.-1A>C) | |
| 14 | g.94382980T= | CA2155954871 | SERPINA1 | c.258A= (p.Ala86=) c.-1A= (n.-1A=) | |
| 14 | g.94382981G>A | CA390850453 | SERPINA1 | c.257C>T (p.Ala86Val) c.-2C>T (n.-2C>T) | |
| 14 | g.94382981G>C | CA390850454 | SERPINA1 | c.257C>G (p.Ala86Gly) c.-2C>G (n.-2C>G) | |
| 14 | g.94382981G>T | CA390850455 | SERPINA1 | c.257C>A (p.Ala86Glu) c.-2C>A (n.-2C>A) | |
| 14 | g.94382981_94382988dup | CA2582341765 | SERPINA1 | c.250_257dup (p.Met87ProfsTer21) c.250_257dup (p.Met87ProfsTer?) c.-9_-2dup (n.-9_-2dup) | ClinVar |
| 14 | g.94382982C>A | CA390850456 | SERPINA1 | c.256G>T (p.Ala86Ser) c.-3G>T (n.-3G>T) | gnomAD v4 |
| 14 | g.94382982C>G | CA390850457 | SERPINA1 | c.256G>C (p.Ala86Pro) c.-3G>C (n.-3G>C) | |
| 14 | g.94382982C>T | CA390850458 | SERPINA1 | c.256G>A (p.Ala86Thr) c.-3G>A (n.-3G>A) | |
| 14 | g.94382983A>C | CA390850459 | SERPINA1 | c.255T>G (p.Phe85Leu) c.-4T>G (n.-4T>G) | |
| 14 | g.94382983A>G | CA487841414 | SERPINA1 | c.255T>C (p.Phe85=) c.-4T>C (n.-4T>C) | |
| 14 | g.94382983A>T | CA390850460 | SERPINA1 | c.255T>A (p.Phe85Leu) c.-4T>A (n.-4T>A) | |
| 14 | g.94382984A= | CA2155954872 | SERPINA1 | c.254T= (p.Phe85=) c.-5T= (n.-5T=) | |
| 14 | g.94382984A>C | CA390850463 | SERPINA1 | c.254T>G (p.Phe85Cys) c.-5T>G (n.-5T>G) | |
| 14 | g.94382984A>G | CA390850462 | SERPINA1 | c.254T>C (p.Phe85Ser) c.-5T>C (n.-5T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382984A>T | CA390850461 | SERPINA1 | c.254T>A (p.Phe85Tyr) c.-5T>A (n.-5T>A) | |
| 14 | g.94382985A>C | CA390850464 | SERPINA1 | c.253T>G (p.Phe85Val) c.-6T>G (n.-6T>G) | |
| 14 | g.94382985A>G | CA390850465 | SERPINA1 | c.253T>C (p.Phe85Leu) c.-6T>C (n.-6T>C) | |
| 14 | g.94382985A>T | CA390850466 | SERPINA1 | c.253T>A (p.Phe85Ile) c.-6T>A (n.-6T>A) | |
| 14 | g.94382986G>A | CA487841426 | SERPINA1 | c.252C>T (p.Ala84=) c.-7C>T (n.-7C>T) | gnomAD v4 |
| 14 | g.94382986G>C | CA487841427 | SERPINA1 | c.252C>G (p.Ala84=) c.-7C>G (n.-7C>G) | |
| 14 | g.94382986G>T | CA487841428 | SERPINA1 | c.252C>A (p.Ala84=) c.-7C>A (n.-7C>A) | |
| 14 | g.94382987G>A | CA390850467 | SERPINA1 | c.251C>T (p.Ala84Val) c.-8C>T (n.-8C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382987G>C | CA390850468 | SERPINA1 | c.251C>G (p.Ala84Gly) c.-8C>G (n.-8C>G) | |
| 14 | g.94382987G= | CA2155954873 | SERPINA1 | c.251C= (p.Ala84=) c.-8C= (n.-8C=) | |
| 14 | g.94382987G>T | CA390850469 | SERPINA1 | c.251C>A (p.Ala84Asp) c.-8C>A (n.-8C>A) | gnomAD v4 |
| 14 | g.94382988C>A | CA390850470 | SERPINA1 | c.250G>T (p.Ala84Ser) c.-9G>T (n.-9G>T) | |
| 14 | g.94382988C= | CA2155954874 | SERPINA1 | c.250G= (p.Ala84=) c.-9G= (n.-9G=) | |
| 14 | g.94382988C>G | CA390850471 | SERPINA1 | c.250G>C (p.Ala84Pro) c.-9G>C (n.-9G>C) | |
| 14 | g.94382988C>T | CA7327521 | SERPINA1 | c.250G>A (p.Ala84Thr) c.-9G>A (n.-9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382989T>A | CA487841431 | SERPINA1 | c.249A>T (p.Thr83=) c.-10A>T (n.-10A>T) | |
| 14 | g.94382989T>C | CA487841432 | SERPINA1 | c.249A>G (p.Thr83=) c.-10A>G (n.-10A>G) | dbSNP |
| 14 | g.94382989T>G | CA487841434 | SERPINA1 | c.249A>C (p.Thr83=) c.-10A>C (n.-10A>C) | |
| 14 | g.94382989T= | CA2155954875 | SERPINA1 | c.249A= (p.Thr83=) c.-10A= (n.-10A=) | |
| 14 | g.94382990G>A | CA390850472 | SERPINA1 | c.248C>T (p.Thr83Ile) c.-11C>T (n.-11C>T) | |
| 14 | g.94382990G>C | CA390850473 | SERPINA1 | c.248C>G (p.Thr83Arg) c.-11C>G (n.-11C>G) | dbSNP gnomAD v2 |
| 14 | g.94382990G= | CA2155954876 | SERPINA1 | c.248C= (p.Thr83=) c.-11C= (n.-11C=) | |
| 14 | g.94382990G>T | CA390850474 | SERPINA1 | c.248C>A (p.Thr83Lys) c.-11C>A (n.-11C>A) | |
| 14 | g.94382991T>A | CA390850477 | SERPINA1 | c.247A>T (p.Thr83Ser) c.-12A>T (n.-12A>T) | |
| 14 | g.94382991T>C | CA390850476 | SERPINA1 | c.247A>G (p.Thr83Ala) c.-12A>G (n.-12A>G) | |
| 14 | g.94382991T>G | CA390850475 | SERPINA1 | c.247A>C (p.Thr83Pro) c.-12A>C (n.-12A>C) | |
| 14 | g.94382992A= | CA2155954877 | SERPINA1 | c.246T= (p.Ala82=) c.-13T= (n.-13T=) | |
| 14 | g.94382992A>C | CA487841446 | SERPINA1 | c.246T>G (p.Ala82=) c.-13T>G (n.-13T>G) | |
| 14 | g.94382992A>G | CA487841447 | SERPINA1 | c.246T>C (p.Ala82=) c.-13T>C (n.-13T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382992A>T | CA487841448 | SERPINA1 | c.246T>A (p.Ala82=) c.-13T>A (n.-13T>A) | |
| 14 | g.94382993G>A | CA390850478 | SERPINA1 | c.245C>T (p.Ala82Val) c.-14C>T (n.-14C>T) | gnomAD v4 |
| 14 | g.94382993G>C | CA390850479 | SERPINA1 | c.245C>G (p.Ala82Gly) c.-14C>G (n.-14C>G) | |
| 14 | g.94382993G>T | CA390850480 | SERPINA1 | c.245C>A (p.Ala82Asp) c.-14C>A (n.-14C>A) | |
| 14 | g.94382994C>A | CA390850481 | SERPINA1 | c.244G>T (p.Ala82Ser) c.-15G>T (n.-15G>T) | |
| 14 | g.94382994C= | CA2155954878 | SERPINA1 | c.244G= (p.Ala82=) c.-15G= (n.-15G=) | |
| 14 | g.94382994C>G | CA390850482 | SERPINA1 | c.244G>C (p.Ala82Pro) c.-15G>C (n.-15G>C) | ClinVar dbSNP |
| 14 | g.94382994C>T | CA7327522 | SERPINA1 | c.244G>A (p.Ala82Thr) c.-15G>A (n.-15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382995G>A | CA487841457 | SERPINA1 | c.243C>T (p.Ile81=) c.-16C>T (n.-16C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382995G>C | CA390850483 | SERPINA1 | c.243C>G (p.Ile81Met) c.-16C>G (n.-16C>G) | |
| 14 | g.94382995G= | CA2155954879 | SERPINA1 | c.243C= (p.Ile81=) c.-16C= (n.-16C=) | |
| 14 | g.94382995G>T | CA487841455 | SERPINA1 | c.243C>A (p.Ile81=) c.-16C>A (n.-16C>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382996A>C | CA390850484 | SERPINA1 | c.242T>G (p.Ile81Ser) c.-17T>G (n.-17T>G) | |
| 14 | g.94382996A>G | CA390850485 | SERPINA1 | c.242T>C (p.Ile81Thr) c.-17T>C (n.-17T>C) | |
| 14 | g.94382996A>T | CA390850486 | SERPINA1 | c.242T>A (p.Ile81Asn) c.-17T>A (n.-17T>A) | |
| 14 | g.94382997T>A | CA390850487 | SERPINA1 | c.241A>T (p.Ile81Phe) c.-18A>T (n.-18A>T) | |
| 14 | g.94382997T>C | CA390850488 | SERPINA1 | c.241A>G (p.Ile81Val) c.-18A>G (n.-18A>G) | ClinVar dbSNP |
| 14 | g.94382997T>G | CA390850489 | SERPINA1 | c.241A>C (p.Ile81Leu) c.-18A>C (n.-18A>C) | |
| 14 | g.94382997T= | CA2155954880 | SERPINA1 | c.241A= (p.Ile81=) c.-18A= (n.-18A=) |