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.94382637C>A | CA390849383 | SERPINA1 | c.601G>T (p.Asp201Tyr) | COSMIC |
| 14 | g.94382637C= | CA2155954714 | SERPINA1 | c.601G= (p.Asp201=) | |
| 14 | g.94382637C>G | CA390849384 | SERPINA1 | c.601G>C (p.Asp201His) | |
| 14 | g.94382637C>T | CA265864101 | SERPINA1 | c.601G>A (p.Asp201Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382638A= | CA2155954715 | SERPINA1 | c.600T= (p.Leu200=) | |
| 14 | g.94382638A>C | CA487621928 | SERPINA1 | c.600T>G (p.Leu200=) | |
| 14 | g.94382638A>G | CA7327463 | SERPINA1 | c.600T>C (p.Leu200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382638A>T | CA487621927 | SERPINA1 | c.600T>A (p.Leu200=) | |
| 14 | g.94382638_94382639del | CA2626309919 | SERPINA1 | c.599_600del (p.Leu200ArgfsTer15) | gnomAD v4 |
| 14 | g.94382639A>C | CA390849385 | SERPINA1 | c.599T>G (p.Leu200Arg) | |
| 14 | g.94382639A>G | CA390849386 | SERPINA1 | c.599T>C (p.Leu200Pro) | |
| 14 | g.94382639A>T | CA390849387 | SERPINA1 | c.599T>A (p.Leu200His) | |
| 14 | g.94382640del | CA2626309922 | SERPINA1 | c.598del (p.Asp201ThrfsTer9) | gnomAD v4 |
| 14 | g.94382640G>A | CA390849388 | SERPINA1 | c.598C>T (p.Leu200Phe) | |
| 14 | g.94382640G>C | CA390849389 | SERPINA1 | c.598C>G (p.Leu200Val) | |
| 14 | g.94382640G>T | CA390849390 | SERPINA1 | c.598C>A (p.Leu200Ile) | |
| 14 | g.94382641C>A | CA7327464 | SERPINA1 | c.597G>T (p.Glu199Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382641C= | CA2155954716 | SERPINA1 | c.597G= (p.Glu199=) | |
| 14 | g.94382641C>G | CA390849391 | SERPINA1 | c.597G>C (p.Glu199Asp) | gnomAD v4 |
| 14 | g.94382641C>T | CA487621935 | SERPINA1 | c.597G>A (p.Glu199=) | gnomAD v4 |
| 14 | g.94382642T>A | CA390849392 | SERPINA1 | c.596A>T (p.Glu199Val) | |
| 14 | g.94382642T>C | CA390849393 | SERPINA1 | c.596A>G (p.Glu199Gly) | |
| 14 | g.94382642T>G | CA390849394 | SERPINA1 | c.596A>C (p.Glu199Ala) | |
| 14 | g.94382643C>A | CA390849395 | SERPINA1 | c.595G>T (p.Glu199Ter) | |
| 14 | g.94382643C>G | CA390849396 | SERPINA1 | c.595G>C (p.Glu199Gln) | |
| 14 | g.94382643C>T | CA390849397 | SERPINA1 | c.595G>A (p.Glu199Lys) | gnomAD v4 |
| 14 | g.94382644C>A | CA390849398 | SERPINA1 | c.594G>T (p.Lys198Asn) | |
| 14 | g.94382644C>G | CA390849399 | SERPINA1 | c.594G>C (p.Lys198Asn) | |
| 14 | g.94382644C>T | CA487621943 | SERPINA1 | c.594G>A (p.Lys198=) | |
| 14 | g.94382645T>A | CA390849400 | SERPINA1 | c.593A>T (p.Lys198Met) | |
| 14 | g.94382645T>C | CA390849401 | SERPINA1 | c.593A>G (p.Lys198Arg) | gnomAD v4 |
| 14 | g.94382645T>G | CA390849402 | SERPINA1 | c.593A>C (p.Lys198Thr) | |
| 14 | g.94382646T>A | CA390849404 | SERPINA1 | c.592A>T (p.Lys198Ter) | |
| 14 | g.94382646T>C | CA7327465 | SERPINA1 | c.592A>G (p.Lys198Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382646T>G | CA390849403 | SERPINA1 | c.592A>C (p.Lys198Gln) | |
| 14 | g.94382646T= | CA2155954717 | SERPINA1 | c.592A= (p.Lys198=) | |
| 14 | g.94382647G>A | CA487621949 | SERPINA1 | c.591C>T (p.Val197=) | gnomAD v4 |
| 14 | g.94382647G>C | CA487621950 | SERPINA1 | c.591C>G (p.Val197=) | |
| 14 | g.94382647G>T | CA487621951 | SERPINA1 | c.591C>A (p.Val197=) | |
| 14 | g.94382648A>C | CA390849405 | SERPINA1 | c.590T>G (p.Val197Gly) | |
| 14 | g.94382648A>G | CA390849406 | SERPINA1 | c.590T>C (p.Val197Ala) | gnomAD v4 |
| 14 | g.94382648A>T | CA390849407 | SERPINA1 | c.590T>A (p.Val197Asp) | |
| 14 | g.94382649C>A | CA390849408 | SERPINA1 | c.589G>T (p.Val197Phe) | gnomAD v4 COSMIC |
| 14 | g.94382649C>G | CA390849409 | SERPINA1 | c.589G>C (p.Val197Leu) | |
| 14 | g.94382649C>T | CA390849410 | SERPINA1 | c.589G>A (p.Val197Ile) | gnomAD v4 |
| 14 | g.94382652_94382657del | CA2575614297 | SERPINA1 | c.584_589del (p.Asp195_Leu196del) | |
| 14 | g.94382650C>A | CA390849411 | SERPINA1 | c.588G>T (p.Leu196Phe) | |
| 14 | g.94382650C= | CA2155954718 | SERPINA1 | c.588G= (p.Leu196=) | |
| 14 | g.94382650C>G | CA390849412 | SERPINA1 | c.588G>C (p.Leu196Phe) | |
| 14 | g.94382650C>T | CA487621956 | SERPINA1 | c.588G>A (p.Leu196=) | ClinVar dbSNP |
| 14 | g.94382651A= | CA2155954719 | SERPINA1 | c.587T= (p.Leu196=) | |
| 14 | g.94382651A>C | CA390849413 | SERPINA1 | c.587T>G (p.Leu196Trp) | |
| 14 | g.94382651A>G | CA7327466 | SERPINA1 | c.587T>C (p.Leu196Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382651A>T | CA390849414 | SERPINA1 | c.587T>A (p.Leu196Ter) | |
| 14 | g.94382651_94382653delinsAAA | CA2155954720 | SERPINA1 | c.585_587delinsTTT (p.Asp195=) | |
| 14 | g.94382652A>C | CA390849415 | SERPINA1 | c.586T>G (p.Leu196Val) | |
| 14 | g.94382652A>G | CA487621961 | SERPINA1 | c.586T>C (p.Leu196=) | |
| 14 | g.94382652A>T | CA390849416 | SERPINA1 | c.586T>A (p.Leu196Met) | |
| 14 | g.94382652_94382653delinsT | CA913190708 | SERPINA1 | c.585_586delinsA (p.Asp195GlufsTer15) | ClinVar dbSNP |
| 14 | g.94382653A>C | CA390849418 | SERPINA1 | c.585T>G (p.Asp195Glu) | |
| 14 | g.94382653A>G | CA487621963 | SERPINA1 | c.585T>C (p.Asp195=) | |
| 14 | g.94382653A>T | CA390849417 | SERPINA1 | c.585T>A (p.Asp195Glu) | |
| 14 | g.94382654T>A | CA390849419 | SERPINA1 | c.584A>T (p.Asp195Val) | |
| 14 | g.94382654T>C | CA390849421 | SERPINA1 | c.584A>G (p.Asp195Gly) | |
| 14 | g.94382654T>G | CA390849420 | SERPINA1 | c.584A>C (p.Asp195Ala) | |
| 14 | g.94382655C>A | CA390849422 | SERPINA1 | c.583G>T (p.Asp195Tyr) | |
| 14 | g.94382655C>G | CA390849423 | SERPINA1 | c.583G>C (p.Asp195His) | |
| 14 | g.94382655C>T | CA390849424 | SERPINA1 | c.583G>A (p.Asp195Asn) | |
| 14 | g.94382656C>A | CA487621965 | SERPINA1 | c.582G>T (p.Val194=) | |
| 14 | g.94382656C>G | CA487621966 | SERPINA1 | c.582G>C (p.Val194=) | |
| 14 | g.94382656C>T | CA487621967 | SERPINA1 | c.582G>A (p.Val194=) | |
| 14 | g.94382657A>C | CA390849425 | SERPINA1 | c.581T>G (p.Val194Gly) | |
| 14 | g.94382657A>G | CA390849426 | SERPINA1 | c.581T>C (p.Val194Ala) | |
| 14 | g.94382657A>T | CA390849427 | SERPINA1 | c.581T>A (p.Val194Glu) | |
| 14 | g.94382658C>A | CA390849428 | SERPINA1 | c.580G>T (p.Val194Leu) | |
| 14 | g.94382658C>G | CA390849429 | SERPINA1 | c.580G>C (p.Val194Leu) | |
| 14 | g.94382658C>T | CA390849430 | SERPINA1 | c.580G>A (p.Val194Met) | |
| 14 | g.94382659A= | CA2155954721 | SERPINA1 | c.579T= (p.Ile193=) | |
| 14 | g.94382659A>C | CA390849431 | SERPINA1 | c.579T>G (p.Ile193Met) | |
| 14 | g.94382659A>G | CA487621973 | SERPINA1 | c.579T>C (p.Ile193=) | |
| 14 | g.94382659A>T | CA487621972 | SERPINA1 | c.579T>A (p.Ile193=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382660A>C | CA390849434 | SERPINA1 | c.578T>G (p.Ile193Ser) | |
| 14 | g.94382660A>G | CA390849433 | SERPINA1 | c.578T>C (p.Ile193Thr) | |
| 14 | g.94382660A>T | CA390849432 | SERPINA1 | c.578T>A (p.Ile193Asn) | |
| 14 | g.94382661T>A | CA390849435 | SERPINA1 | c.577A>T (p.Ile193Phe) | |
| 14 | g.94382661T>C | CA390849436 | SERPINA1 | c.577A>G (p.Ile193Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382661T>G | CA390849437 | SERPINA1 | c.577A>C (p.Ile193Leu) | |
| 14 | g.94382661T= | CA2155954722 | SERPINA1 | c.577A= (p.Ile193=) | |
| 14 | g.94382662T>A | CA390849438 | SERPINA1 | c.576A>T (p.Lys192Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382662T>C | CA487621981 | SERPINA1 | c.576A>G (p.Lys192=) | gnomAD v4 |
| 14 | g.94382662T>G | CA390849439 | SERPINA1 | c.576A>C (p.Lys192Asn) | |
| 14 | g.94382662T= | CA2155954723 | SERPINA1 | c.576A= (p.Lys192=) | |
| 14 | g.94382663T>A | CA390849440 | SERPINA1 | c.575A>T (p.Lys192Ile) c.317A>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382663T>C | CA390849441 | SERPINA1 | c.575A>G (p.Lys192Arg) c.317A>G | |
| 14 | g.94382663T>G | CA390849442 | SERPINA1 | c.575A>C (p.Lys192Thr) c.317A>C | |
| 14 | g.94382663T= | CA2155954724 | SERPINA1 | c.575A= (p.Lys192=) c.317A= | |
| 14 | g.94382664T>A | CA390849443 | SERPINA1 | c.574A>T (p.Lys192Ter) c.316A>T | |
| 14 | g.94382664T>C | CA390849444 | SERPINA1 | c.574A>G (p.Lys192Glu) c.316A>G | |
| 14 | g.94382664T>G | CA390849445 | SERPINA1 | c.574A>C (p.Lys192Gln) c.316A>C | |
| 14 | g.94382665C>A | CA487621989 | SERPINA1 | c.573G>T (p.Gly191=) c.315G>T (p.Gly105=) | |
| 14 | g.94382665C= | CA2155954725 | SERPINA1 | c.573G= (p.Gly191=) c.315G= (p.Gly105=) | |
| 14 | g.94382665C>G | CA487621988 | SERPINA1 | c.573G>C (p.Gly191=) c.315G>C (p.Gly105=) | |
| 14 | g.94382665C>T | CA7327467 | SERPINA1 | c.573G>A (p.Gly191=) c.315G>A (p.Gly105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382666C>A | CA390849447 | SERPINA1 | c.572G>T (p.Gly191Val) c.314G>T (p.Gly105Val) | |
| 14 | g.94382666C>G | CA390849448 | SERPINA1 | c.572G>C (p.Gly191Ala) c.314G>C (p.Gly105Ala) | |
| 14 | g.94382666C>T | CA390849446 | SERPINA1 | c.572G>A (p.Gly191Glu) c.314G>A (p.Gly105Glu) | |
| 14 | g.94382667C>A | CA390849449 | SERPINA1 | c.571G>T (p.Gly191Trp) c.313G>T (p.Gly105Trp) | |
| 14 | g.94382667C>G | CA390849450 | SERPINA1 | c.571G>C (p.Gly191Arg) c.313G>C (p.Gly105Arg) | |
| 14 | g.94382667C>T | CA390849451 | SERPINA1 | c.571G>A (p.Gly191Arg) c.313G>A (p.Gly105Arg) | |
| 14 | g.94382668T>A | CA390849452 | SERPINA1 | c.570A>T (p.Gln190His) c.312A>T (p.Gln104His) | |
| 14 | g.94382668T>C | CA487621994 | SERPINA1 | c.570A>G (p.Gln190=) c.312A>G (p.Gln104=) | |
| 14 | g.94382668T>G | CA390849453 | SERPINA1 | c.570A>C (p.Gln190His) c.312A>C (p.Gln104His) | |
| 14 | g.94382669del | CA2626309958 | SERPINA1 | c.570del (p.Ile193LeufsTer17) c.312del (p.Gln104=) | gnomAD v4 |
| 14 | g.94382669T>A | CA390849456 | SERPINA1 | c.569A>T (p.Gln190Leu) c.311A>T (p.Gln104Leu) | |
| 14 | g.94382669T>C | CA390849455 | SERPINA1 | c.569A>G (p.Gln190Arg) c.311A>G (p.Gln104Arg) | |
| 14 | g.94382669T>G | CA390849454 | SERPINA1 | c.569A>C (p.Gln190Pro) c.311A>C (p.Gln104Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382669T= | CA2155954726 | SERPINA1 | c.569A= (p.Gln190=) c.311A= (p.Gln104=) | |
| 14 | g.94382670G>A | CA390849457 | SERPINA1 | c.568C>T (p.Gln190Ter) c.310C>T (p.Gln104Ter) | ClinVar |
| 14 | g.94382670G>C | CA390849458 | SERPINA1 | c.568C>G (p.Gln190Glu) c.310C>G (p.Gln104Glu) | |
| 14 | g.94382670G>T | CA390849459 | SERPINA1 | c.568C>A (p.Gln190Lys) c.310C>A (p.Gln104Lys) | |
| 14 | g.94382671A>C | CA487622002 | SERPINA1 | c.567T>G (p.Thr189=) c.309T>G (p.Thr103=) | |
| 14 | g.94382671A>G | CA487622000 | SERPINA1 | c.567T>C (p.Thr189=) c.309T>C (p.Thr103=) | |
| 14 | g.94382671A>T | CA487622001 | SERPINA1 | c.567T>A (p.Thr189=) c.309T>A (p.Thr103=) | |
| 14 | g.94382672G>A | CA390849460 | SERPINA1 | c.566C>T (p.Thr189Ile) c.308C>T (p.Thr103Ile) | ClinVar gnomAD v4 |
| 14 | g.94382672G>C | CA390849461 | SERPINA1 | c.566C>G (p.Thr189Ser) c.308C>G (p.Thr103Ser) | |
| 14 | g.94382672G>T | CA390849462 | SERPINA1 | c.566C>A (p.Thr189Asn) c.308C>A (p.Thr103Asn) | |
| 14 | g.94382673T>A | CA390849463 | SERPINA1 | c.565A>T (p.Thr189Ser) c.307A>T (p.Thr103Ser) | |
| 14 | g.94382673T>C | CA390849465 | SERPINA1 | c.565A>G (p.Thr189Ala) c.307A>G (p.Thr103Ala) | |
| 14 | g.94382673T>G | CA390849464 | SERPINA1 | c.565A>C (p.Thr189Pro) c.307A>C (p.Thr103Pro) | |
| 14 | g.94382674A= | CA2155954727 | SERPINA1 | c.564T= (p.Gly188=) c.306T= (p.Gly102=) | |
| 14 | g.94382674A>C | CA487622008 | SERPINA1 | c.564T>G (p.Gly188=) c.306T>G (p.Gly102=) | |
| 14 | g.94382674A>G | CA487622010 | SERPINA1 | c.564T>C (p.Gly188=) c.306T>C (p.Gly102=) | |
| 14 | g.94382674A>T | CA7327468 | SERPINA1 | c.564T>A (p.Gly188=) c.306T>A (p.Gly102=) | ClinVar dbSNP ExAC gnomAD v4 |
| 14 | g.94382675C>A | CA390849466 | SERPINA1 | c.563G>T (p.Gly188Val) c.305G>T (p.Gly102Val) | |
| 14 | g.94382675C>G | CA390849467 | SERPINA1 | c.563G>C (p.Gly188Ala) c.305G>C (p.Gly102Ala) | |
| 14 | g.94382675C>T | CA390849468 | SERPINA1 | c.563G>A (p.Gly188Asp) c.305G>A (p.Gly102Asp) | gnomAD v4 COSMIC |
| 14 | g.94382676C>A | CA390849469 | SERPINA1 | c.562G>T (p.Gly188Cys) c.304G>T (p.Gly102Cys) | |
| 14 | g.94382676C= | CA2155954728 | SERPINA1 | c.562G= (p.Gly188=) c.304G= (p.Gly102=) | |
| 14 | g.94382676C>G | CA390849470 | SERPINA1 | c.562G>C (p.Gly188Arg) c.304G>C (p.Gly102Arg) | dbSNP |
| 14 | g.94382676C>T | CA7327469 | SERPINA1 | c.562G>A (p.Gly188Ser) c.304G>A (p.Gly102Ser) | dbSNP ExAC gnomAD v2 |
| 14 | g.94382677C>A | CA390849471 | SERPINA1 | c.561G>T (p.Lys187Asn) c.303G>T (p.Lys101Asn) | |
| 14 | g.94382677C>G | CA390849472 | SERPINA1 | c.561G>C (p.Lys187Asn) c.303G>C (p.Lys101Asn) | |
| 14 | g.94382677C>T | CA487622014 | SERPINA1 | c.561G>A (p.Lys187=) c.303G>A (p.Lys101=) | ClinVar |
| 14 | g.94382678T>A | CA390849473 | SERPINA1 | c.560A>T (p.Lys187Met) c.302A>T (p.Lys101Met) | |
| 14 | g.94382678T>C | CA390849474 | SERPINA1 | c.560A>G (p.Lys187Arg) c.302A>G (p.Lys101Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382678T>G | CA7327470 | SERPINA1 | c.560A>C (p.Lys187Thr) c.302A>C (p.Lys101Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382678T= | CA2155954729 | SERPINA1 | c.560A= (p.Lys187=) c.302A= (p.Lys101=) | |
| 14 | g.94382679T>A | CA390849476 | SERPINA1 | c.559A>T (p.Lys187Ter) c.301A>T (p.Lys101Ter) | gnomAD v4 |
| 14 | g.94382679T>C | CA390849477 | SERPINA1 | c.559A>G (p.Lys187Glu) c.301A>G (p.Lys101Glu) | |
| 14 | g.94382679T>G | CA390849475 | SERPINA1 | c.559A>C (p.Lys187Gln) c.301A>C (p.Lys101Gln) | |
| 14 | g.94382680C>A | CA390849479 | SERPINA1 | c.558G>T (p.Glu186Asp) c.300G>T (p.Glu100Asp) | |
| 14 | g.94382680C>G | CA390849478 | SERPINA1 | c.558G>C (p.Glu186Asp) c.300G>C (p.Glu100Asp) | |
| 14 | g.94382680C>T | CA487622018 | SERPINA1 | c.558G>A (p.Glu186=) c.300G>A (p.Glu100=) | ClinVar |
| 14 | g.94382681del | CA2695199865 | SERPINA1 | c.557del (p.Glu186GlyfsTer24) c.299del (p.Glu100GlyfsTer?) | ClinVar |
| 14 | g.94382681T>A | CA390849481 | SERPINA1 | c.557A>T (p.Glu186Val) c.299A>T (p.Glu100Val) | gnomAD v4 |
| 14 | g.94382681T>C | CA265864104 | SERPINA1 | c.557A>G (p.Glu186Gly) c.299A>G (p.Glu100Gly) | dbSNP |
| 14 | g.94382681T>G | CA390849480 | SERPINA1 | c.557A>C (p.Glu186Ala) c.299A>C (p.Glu100Ala) | |
| 14 | g.94382681T= | CA2155954730 | SERPINA1 | c.557A= (p.Glu186=) c.299A= (p.Glu100=) | |
| 14 | g.94382682C>A | CA390849482 | SERPINA1 | c.556G>T (p.Glu186Ter) c.298G>T (p.Glu100Ter) | |
| 14 | g.94382682C= | CA2155954731 | SERPINA1 | c.556G= (p.Glu186=) c.298G= (p.Glu100=) | |
| 14 | g.94382682C>G | CA390849483 | SERPINA1 | c.556G>C (p.Glu186Gln) c.298G>C (p.Glu100Gln) | |
| 14 | g.94382682C>T | CA390849484 | SERPINA1 | c.556G>A (p.Glu186Lys) c.298G>A (p.Glu100Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382683C>A | CA487622019 | SERPINA1 | c.555G>T (p.Val185=) c.297G>T (p.Val99=) | |
| 14 | g.94382683C= | CA2155954732 | SERPINA1 | c.555G= (p.Val185=) c.297G= (p.Val99=) | |
| 14 | g.94382683C>G | CA487622020 | SERPINA1 | c.555G>C (p.Val185=) c.297G>C (p.Val99=) | |
| 14 | g.94382683C>T | CA487622021 | SERPINA1 | c.555G>A (p.Val185=) c.297G>A (p.Val99=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382684A>C | CA390849485 | SERPINA1 | c.554T>G (p.Val185Gly) c.296T>G (p.Val99Gly) | |
| 14 | g.94382684A>G | CA390849486 | SERPINA1 | c.554T>C (p.Val185Ala) c.296T>C (p.Val99Ala) | COSMIC |
| 14 | g.94382684A>T | CA390849487 | SERPINA1 | c.554T>A (p.Val185Glu) c.296T>A (p.Val99Glu) | |
| 14 | g.94382685C>A | CA390849488 | SERPINA1 | c.553G>T (p.Val185Leu) c.295G>T (p.Val99Leu) | |
| 14 | g.94382685C= | CA2155954733 | SERPINA1 | c.553G= (p.Val185=) c.295G= (p.Val99=) | |
| 14 | g.94382685C>G | CA390849489 | SERPINA1 | c.553G>C (p.Val185Leu) c.295G>C (p.Val99Leu) | gnomAD v4 |
| 14 | g.94382685C>T | CA7327471 | SERPINA1 | c.553G>A (p.Val185Met) c.295G>A (p.Val99Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382685_94382686delinsCG | CA2155954734 | SERPINA1 | c.552_553delinsCG (p.Tyr184=) c.294_295delinsCG (p.Tyr98=) | |
| 14 | g.94382686del | CA127692 | SERPINA1 | c.552del (p.Tyr184Ter) c.294del (p.Tyr98Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382686G>A | CA7327472 | SERPINA1 | c.552C>T (p.Tyr184=) c.294C>T (p.Tyr98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382686G>C | CA274042 | SERPINA1 | c.552C>G (p.Tyr184Ter) c.294C>G (p.Tyr98Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382686G= | CA2155954735 | SERPINA1 | c.552C= (p.Tyr184=) c.294C= (p.Tyr98=) | |
| 14 | g.94382686G>T | CA7327473 | SERPINA1 | c.552C>A (p.Tyr184Ter) c.294C>A (p.Tyr98Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382687T>A | CA390849490 | SERPINA1 | c.551A>T (p.Tyr184Phe) c.293A>T (p.Tyr98Phe) | |
| 14 | g.94382687T>C | CA390849491 | SERPINA1 | c.551A>G (p.Tyr184Cys) c.293A>G (p.Tyr98Cys) | |
| 14 | g.94382687T>G | CA390849492 | SERPINA1 | c.551A>C (p.Tyr184Ser) c.293A>C (p.Tyr98Ser) | |
| 14 | g.94382688A>C | CA390849493 | SERPINA1 | c.550T>G (p.Tyr184Asp) c.292T>G (p.Tyr98Asp) | |
| 14 | g.94382688A>G | CA390849494 | SERPINA1 | c.550T>C (p.Tyr184His) c.292T>C (p.Tyr98His) | |
| 14 | g.94382688A>T | CA390849495 | SERPINA1 | c.550T>A (p.Tyr184Asn) c.292T>A (p.Tyr98Asn) | |
| 14 | g.94382689A>C | CA390849496 | SERPINA1 | c.549T>G (p.Asp183Glu) c.291T>G (p.Asp97Glu) | |
| 14 | g.94382689A>G | CA487622022 | SERPINA1 | c.549T>C (p.Asp183=) c.291T>C (p.Asp97=) | gnomAD v4 |
| 14 | g.94382689A>T | CA390849497 | SERPINA1 | c.549T>A (p.Asp183Glu) c.291T>A (p.Asp97Glu) | |
| 14 | g.94382690T>A | CA390849498 | SERPINA1 | c.548A>T (p.Asp183Val) c.290A>T (p.Asp97Val) | |
| 14 | g.94382690T>C | CA390849499 | SERPINA1 | c.548A>G (p.Asp183Gly) c.290A>G (p.Asp97Gly) | |
| 14 | g.94382690T>G | CA390849500 | SERPINA1 | c.548A>C (p.Asp183Ala) c.290A>C (p.Asp97Ala) | |
| 14 | g.94382691C>A | CA390849501 | SERPINA1 | c.547G>T (p.Asp183Tyr) c.289G>T (p.Asp97Tyr) | |
| 14 | g.94382691C= | CA2155954736 | SERPINA1 | c.547G= (p.Asp183=) c.289G= (p.Asp97=) | |
| 14 | g.94382691C>G | CA390849502 | SERPINA1 | c.547G>C (p.Asp183His) c.289G>C (p.Asp97His) | |
| 14 | g.94382691C>T | CA7327474 | SERPINA1 | c.547G>A (p.Asp183Asn) c.289G>A (p.Asp97Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382692G>A | CA7327475 | SERPINA1 | c.546C>T (p.Asn182=) c.288C>T (p.Asn96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382692G>C | CA390849503 | SERPINA1 | c.546C>G (p.Asn182Lys) c.288C>G (p.Asn96Lys) | |
| 14 | g.94382692G= | CA2155954737 | SERPINA1 | c.546C= (p.Asn182=) c.288C= (p.Asn96=) | |
| 14 | g.94382692G>T | CA390849504 | SERPINA1 | c.546C>A (p.Asn182Lys) c.288C>A (p.Asn96Lys) | |
| 14 | g.94382693T>A | CA390849505 | SERPINA1 | c.545A>T (p.Asn182Ile) c.287A>T (p.Asn96Ile) | |
| 14 | g.94382693T>C | CA390849506 | SERPINA1 | c.545A>G (p.Asn182Ser) c.287A>G (p.Asn96Ser) | |
| 14 | g.94382693T>G | CA390849507 | SERPINA1 | c.545A>C (p.Asn182Thr) c.287A>C (p.Asn96Thr) | |
| 14 | g.94382694T>A | CA390849508 | SERPINA1 | c.544A>T (p.Asn182Tyr) c.286A>T (p.Asn96Tyr) | |
| 14 | g.94382694T>C | CA390849509 | SERPINA1 | c.544A>G (p.Asn182Asp) c.286A>G (p.Asn96Asp) | |
| 14 | g.94382694T>G | CA390849510 | SERPINA1 | c.544A>C (p.Asn182His) c.286A>C (p.Asn96His) | |
| 14 | g.94382695G>A | CA487622023 | SERPINA1 | c.543C>T (p.Ile181=) c.285C>T (p.Ile95=) | |
| 14 | g.94382695G>C | CA390849511 | SERPINA1 | c.543C>G (p.Ile181Met) c.285C>G (p.Ile95Met) | |
| 14 | g.94382695G= | CA2155954738 | SERPINA1 | c.543C= (p.Ile181=) c.285C= (p.Ile95=) | |
| 14 | g.94382695G>T | CA487622024 | SERPINA1 | c.543C>A (p.Ile181=) c.285C>A (p.Ile95=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382696A>C | CA390849512 | SERPINA1 | c.542T>G (p.Ile181Ser) c.284T>G (p.Ile95Ser) | |
| 14 | g.94382696A>G | CA390849513 | SERPINA1 | c.542T>C (p.Ile181Thr) c.284T>C (p.Ile95Thr) | ClinVar |
| 14 | g.94382696A>T | CA390849514 | SERPINA1 | c.542T>A (p.Ile181Asn) c.284T>A (p.Ile95Asn) | |
| 14 | g.94382697T>A | CA390849517 | SERPINA1 | c.541A>T (p.Ile181Phe) c.283A>T (p.Ile95Phe) | |
| 14 | g.94382697T>C | CA390849516 | SERPINA1 | c.541A>G (p.Ile181Val) c.283A>G (p.Ile95Val) | |
| 14 | g.94382697T>G | CA390849515 | SERPINA1 | c.541A>C (p.Ile181Leu) c.283A>C (p.Ile95Leu) | |
| 14 | g.94382698C>A | CA390849518 | SERPINA1 | c.540G>T (p.Gln180His) c.282G>T (p.Gln94His) | |
| 14 | g.94382698C>G | CA390849519 | SERPINA1 | c.540G>C (p.Gln180His) c.282G>C (p.Gln94His) | |
| 14 | g.94382698C>T | CA487622025 | SERPINA1 | c.540G>A (p.Gln180=) c.282G>A (p.Gln94=) | |
| 14 | g.94382699del | CA2626309969 | SERPINA1 | c.539del (p.Gln180ArgfsTer30) c.281del (p.Gln94ArgfsTer?) | gnomAD v4 |
| 14 | g.94382699T>A | CA390849520 | SERPINA1 | c.539A>T (p.Gln180Leu) c.281A>T (p.Gln94Leu) | |
| 14 | g.94382699T>C | CA390849521 | SERPINA1 | c.539A>G (p.Gln180Arg) c.281A>G (p.Gln94Arg) | |
| 14 | g.94382699T>G | CA390849522 | SERPINA1 | c.539A>C (p.Gln180Pro) c.281A>C (p.Gln94Pro) | gnomAD v4 |
| 14 | g.94382700G>A | CA348651 | SERPINA1 | c.538C>T (p.Gln180Ter) c.280C>T (p.Gln94Ter) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94382700G>C | CA390849523 | SERPINA1 | c.538C>G (p.Gln180Glu) c.280C>G (p.Gln94Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382700G= | CA2155954739 | SERPINA1 | c.538C= (p.Gln180=) c.280C= (p.Gln94=) | |
| 14 | g.94382700G>T | CA390849524 | SERPINA1 | c.538C>A (p.Gln180Lys) c.280C>A (p.Gln94Lys) | gnomAD v4 |
| 14 | g.94382701T>A | CA390849525 | SERPINA1 | c.537A>T (p.Lys179Asn) c.279A>T (p.Lys93Asn) | |
| 14 | g.94382701T>C | CA487622026 | SERPINA1 | c.537A>G (p.Lys179=) c.279A>G (p.Lys93=) | |
| 14 | g.94382701T>G | CA390849526 | SERPINA1 | c.537A>C (p.Lys179Asn) c.279A>C (p.Lys93Asn) | |
| 14 | g.94382702T>A | CA390849527 | SERPINA1 | c.536A>T (p.Lys179Ile) c.278A>T (p.Lys93Ile) | |
| 14 | g.94382702T>C | CA390849528 | SERPINA1 | c.536A>G (p.Lys179Arg) c.278A>G (p.Lys93Arg) | |
| 14 | g.94382702T>G | CA390849529 | SERPINA1 | c.536A>C (p.Lys179Thr) c.278A>C (p.Lys93Thr) | |
| 14 | g.94382703T>A | CA390849532 | SERPINA1 | c.535A>T (p.Lys179Ter) c.277A>T (p.Lys93Ter) | |
| 14 | g.94382703T>C | CA390849531 | SERPINA1 | c.535A>G (p.Lys179Glu) c.277A>G (p.Lys93Glu) | |
| 14 | g.94382703T>G | CA390849530 | SERPINA1 | c.535A>C (p.Lys179Gln) c.277A>C (p.Lys93Gln) | |
| 14 | g.94382704C>A | CA390849533 | SERPINA1 | c.534G>T (p.Lys178Asn) c.276G>T (p.Lys92Asn) | gnomAD v4 |
| 14 | g.94382704C= | CA2155954740 | SERPINA1 | c.534G= (p.Lys178=) c.276G= (p.Lys92=) | |
| 14 | g.94382704C>G | CA390849534 | SERPINA1 | c.534G>C (p.Lys178Asn) c.276G>C (p.Lys92Asn) | |
| 14 | g.94382704C>T | CA7327476 | SERPINA1 | c.534G>A (p.Lys178=) c.276G>A (p.Lys92=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382705T>A | CA390849535 | SERPINA1 | c.533A>T (p.Lys178Met) c.275A>T (p.Lys92Met) | |
| 14 | g.94382705T>C | CA390849536 | SERPINA1 | c.533A>G (p.Lys178Arg) c.275A>G (p.Lys92Arg) | |
| 14 | g.94382705T>G | CA390849537 | SERPINA1 | c.533A>C (p.Lys178Thr) c.275A>C (p.Lys92Thr) | |
| 14 | g.94382706T>A | CA390849538 | SERPINA1 | c.532A>T (p.Lys178Ter) c.274A>T (p.Lys92Ter) | |
| 14 | g.94382706T>C | CA390849539 | SERPINA1 | c.532A>G (p.Lys178Glu) c.274A>G (p.Lys92Glu) | |
| 14 | g.94382706T>G | CA390849540 | SERPINA1 | c.532A>C (p.Lys178Gln) c.274A>C (p.Lys92Gln) | |
| 14 | g.94382707G>A | CA487622027 | SERPINA1 | c.531C>T (p.Ala177=) c.273C>T (p.Ala91=) | |
| 14 | g.94382707G>C | CA487622028 | SERPINA1 | c.531C>G (p.Ala177=) c.273C>G (p.Ala91=) | |
| 14 | g.94382707G>T | CA487622029 | SERPINA1 | c.531C>A (p.Ala177=) c.273C>A (p.Ala91=) | |
| 14 | g.94382708G>A | CA390849541 | SERPINA1 | c.530C>T (p.Ala177Val) c.272C>T (p.Ala91Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382708G>C | CA390849542 | SERPINA1 | c.530C>G (p.Ala177Gly) c.272C>G (p.Ala91Gly) | |
| 14 | g.94382708G= | CA2155954741 | SERPINA1 | c.530C= (p.Ala177=) c.272C= (p.Ala91=) | |
| 14 | g.94382708G>T | CA390849543 | SERPINA1 | c.530C>A (p.Ala177Asp) c.272C>A (p.Ala91Asp) | |
| 14 | g.94382709C>A | CA390849544 | SERPINA1 | c.529G>T (p.Ala177Ser) c.271G>T (p.Ala91Ser) | gnomAD v4 |
| 14 | g.94382709C>G | CA390849545 | SERPINA1 | c.529G>C (p.Ala177Pro) c.271G>C (p.Ala91Pro) | |
| 14 | g.94382709C>T | CA390849546 | SERPINA1 | c.529G>A (p.Ala177Thr) c.271G>A (p.Ala91Thr) | dbSNP |
| 14 | g.94382710C>A | CA390849548 | SERPINA1 | c.528G>T (p.Glu176Asp) c.270G>T (p.Glu90Asp) | gnomAD v4 |
| 14 | g.94382710C= | CA2155954742 | SERPINA1 | c.528G= (p.Glu176=) c.270G= (p.Glu90=) | |
| 14 | g.94382710C>G | CA390849547 | SERPINA1 | c.528G>C (p.Glu176Asp) c.270G>C (p.Glu90Asp) | |
| 14 | g.94382710C>T | CA487622031 | SERPINA1 | c.528G>A (p.Glu176=) c.270G>A (p.Glu90=) | ClinVar dbSNP |
| 14 | g.94382711T>A | CA390849549 | SERPINA1 | c.527A>T (p.Glu176Val) c.269A>T (p.Glu90Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382711T>C | CA390849550 | SERPINA1 | c.527A>G (p.Glu176Gly) c.269A>G (p.Glu90Gly) | |
| 14 | g.94382711T>G | CA390849551 | SERPINA1 | c.527A>C (p.Glu176Ala) c.269A>C (p.Glu90Ala) | |
| 14 | g.94382711T= | CA2155954743 | SERPINA1 | c.527A= (p.Glu176=) c.269A= (p.Glu90=) | |
| 14 | g.94382712C>A | CA390849552 | SERPINA1 | c.526G>T (p.Glu176Ter) c.268G>T (p.Glu90Ter) | |
| 14 | g.94382712C>G | CA390849553 | SERPINA1 | c.526G>C (p.Glu176Gln) c.268G>C (p.Glu90Gln) | |
| 14 | g.94382712C>T | CA390849554 | SERPINA1 | c.526G>A (p.Glu176Lys) c.268G>A (p.Glu90Lys) | |
| 14 | g.94382713T>A | CA390849555 | SERPINA1 | c.525A>T (p.Glu175Asp) c.267A>T (p.Glu89Asp) | |
| 14 | g.94382713T>C | CA265864111 | SERPINA1 | c.525A>G (p.Glu175=) c.267A>G (p.Glu89=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382713T>G | CA390849556 | SERPINA1 | c.525A>C (p.Glu175Asp) c.267A>C (p.Glu89Asp) | |
| 14 | g.94382713T= | CA2155954744 | SERPINA1 | c.525A= (p.Glu175=) c.267A= (p.Glu89=) | |
| 14 | g.94382714T>A | CA390849557 | SERPINA1 | c.524A>T (p.Glu175Val) c.266A>T (p.Glu89Val) | |
| 14 | g.94382714T>C | CA390849558 | SERPINA1 | c.524A>G (p.Glu175Gly) c.266A>G (p.Glu89Gly) | |
| 14 | g.94382714T>G | CA390849559 | SERPINA1 | c.524A>C (p.Glu175Ala) c.266A>C (p.Glu89Ala) | |
| 14 | g.94382715C>A | CA390849560 | SERPINA1 | c.523G>T (p.Glu175Ter) c.265G>T (p.Glu89Ter) | |
| 14 | g.94382715C= | CA2155954746 | SERPINA1 | c.523G= (p.Glu175=) c.265G= (p.Glu89=) | |
| 14 | g.94382715C>G | CA390849561 | SERPINA1 | c.523G>C (p.Glu175Gln) c.265G>C (p.Glu89Gln) | |
| 14 | g.94382715C>T | CA7327477 | SERPINA1 | c.523G>A (p.Glu175Lys) c.265G>A (p.Glu89Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382715_94382716delinsCG | CA2155954745 | SERPINA1 | c.522_523delinsCG (p.Thr174=) c.264_265delinsCG (p.Thr88=) | |
| 14 | g.94382716G>A | CA7327478 | SERPINA1 | c.522C>T (p.Thr174=) c.264C>T (p.Thr88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94382716G>C | CA487622032 | SERPINA1 | c.522C>G (p.Thr174=) c.264C>G (p.Thr88=) | |
| 14 | g.94382716G= | CA2155954747 | SERPINA1 | c.522C= (p.Thr174=) c.264C= (p.Thr88=) | |
| 14 | g.94382716G>T | CA487622034 | SERPINA1 | c.522C>A (p.Thr174=) c.264C>A (p.Thr88=) | |
| 14 | g.94382717del | CA966134404 | SERPINA1 | c.522del (p.Glu175LysfsTer?) c.264del (p.Glu89LysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382717G>A | CA390849562 | SERPINA1 | c.521C>T (p.Thr174Ile) c.263C>T (p.Thr88Ile) | |
| 14 | g.94382717G>C | CA390849563 | SERPINA1 | c.521C>G (p.Thr174Ser) c.263C>G (p.Thr88Ser) | gnomAD v4 |
| 14 | g.94382717G>T | CA390849564 | SERPINA1 | c.521C>A (p.Thr174Asn) c.263C>A (p.Thr88Asn) | |
| 14 | g.94382718T>A | CA390849565 | SERPINA1 | c.520A>T (p.Thr174Ser) c.262A>T (p.Thr88Ser) | |
| 14 | g.94382718T>C | CA390849566 | SERPINA1 | c.520A>G (p.Thr174Ala) c.262A>G (p.Thr88Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94382718T>G | CA390849567 | SERPINA1 | c.520A>C (p.Thr174Pro) c.262A>C (p.Thr88Pro) | |
| 14 | g.94382718T= | CA2155954748 | SERPINA1 | c.520A= (p.Thr174=) c.262A= (p.Thr88=) | |
| 14 | g.94382719G>A | CA487622035 | SERPINA1 | c.519C>T (p.Asp173=) c.261C>T (p.Asp87=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382719G>C | CA390849568 | SERPINA1 | c.519C>G (p.Asp173Glu) c.261C>G (p.Asp87Glu) | |
| 14 | g.94382719G= | CA2155954749 | SERPINA1 | c.519C= (p.Asp173=) c.261C= (p.Asp87=) | |
| 14 | g.94382719G>T | CA390849569 | SERPINA1 | c.519C>A (p.Asp173Glu) c.261C>A (p.Asp87Glu) | |
| 14 | g.94382720T>A | CA390849570 | SERPINA1 | c.518A>T (p.Asp173Val) c.260A>T (p.Asp87Val) | |
| 14 | g.94382720T>C | CA390849571 | SERPINA1 | c.518A>G (p.Asp173Gly) c.260A>G (p.Asp87Gly) | |
| 14 | g.94382720T>G | CA390849572 | SERPINA1 | c.518A>C (p.Asp173Ala) c.260A>C (p.Asp87Ala) | |
| 14 | g.94382721C>A | CA390849574 | SERPINA1 | c.517G>T (p.Asp173Tyr) c.259G>T (p.Asp87Tyr) | |
| 14 | g.94382721C>G | CA390849575 | SERPINA1 | c.517G>C (p.Asp173His) c.259G>C (p.Asp87His) | |
| 14 | g.94382721C>T | CA390849573 | SERPINA1 | c.517G>A (p.Asp173Asn) c.259G>A (p.Asp87Asn) | |
| 14 | g.94382724del | CA2626309970 | SERPINA1 | c.517del (p.Asp173ThrfsTer?) c.259del (p.Asp87ThrfsTer?) | gnomAD v4 |
| 14 | g.94382722C>A | CA487622036 | SERPINA1 | c.516G>T (p.Gly172=) c.258G>T (p.Gly86=) | |
| 14 | g.94382722C= | CA2155954750 | SERPINA1 | c.516G= (p.Gly172=) c.258G= (p.Gly86=) | |
| 14 | g.94382722C>G | CA487622037 | SERPINA1 | c.516G>C (p.Gly172=) c.258G>C (p.Gly86=) | |
| 14 | g.94382722C>T | CA487622038 | SERPINA1 | c.516G>A (p.Gly172=) c.258G>A (p.Gly86=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382723C>A | CA390849576 | SERPINA1 | c.515G>T (p.Gly172Val) c.257G>T (p.Gly86Val) | |
| 14 | g.94382723C>G | CA390849577 | SERPINA1 | c.515G>C (p.Gly172Ala) c.257G>C (p.Gly86Ala) | |
| 14 | g.94382723C>T | CA390849578 | SERPINA1 | c.515G>A (p.Gly172Glu) c.257G>A (p.Gly86Glu) | dbSNP |
| 14 | g.94382724C>A | CA7327480 | SERPINA1 | c.514G>T (p.Gly172Trp) c.256G>T (p.Gly86Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382724C= | CA2155954751 | SERPINA1 | c.514G= (p.Gly172=) c.256G= (p.Gly86=) | |
| 14 | g.94382724C>G | CA390849579 | SERPINA1 | c.514G>C (p.Gly172Arg) c.256G>C (p.Gly86Arg) | gnomAD v4 |
| 14 | g.94382724C>T | CA7327479 | SERPINA1 | c.514G>A (p.Gly172Arg) c.256G>A (p.Gly86Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.[94382724C>T;94383015_94383017del] | CA645372995 | SERPINA1 | c.[227_229del;514G>A] (p.[Phe76del;Gly172Arg]) c.[-23-9_-23-7del;256G>A] (p.Gly86Arg) | ClinVar |
| 14 | g.94382725G>A | CA7327481 | SERPINA1 | c.513C>T (p.Phe171=) c.255C>T (p.Phe85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382725G>C | CA390849580 | SERPINA1 | c.513C>G (p.Phe171Leu) c.255C>G (p.Phe85Leu) | |
| 14 | g.94382725G= | CA2155954752 | SERPINA1 | c.513C= (p.Phe171=) c.255C= (p.Phe85=) | |
| 14 | g.94382725G>T | CA390849581 | SERPINA1 | c.513C>A (p.Phe171Leu) c.255C>A (p.Phe85Leu) | |
| 14 | g.94382726A>C | CA390849582 | SERPINA1 | c.512T>G (p.Phe171Cys) c.254T>G (p.Phe85Cys) | |
| 14 | g.94382726A>G | CA390849583 | SERPINA1 | c.512T>C (p.Phe171Ser) c.254T>C (p.Phe85Ser) | |
| 14 | g.94382726A>T | CA390849584 | SERPINA1 | c.512T>A (p.Phe171Tyr) c.254T>A (p.Phe85Tyr) | |
| 14 | g.94382727A>C | CA390849585 | SERPINA1 | c.511T>G (p.Phe171Val) c.253T>G (p.Phe85Val) | |
| 14 | g.94382727A>G | CA390849586 | SERPINA1 | c.511T>C (p.Phe171Leu) c.253T>C (p.Phe85Leu) | |
| 14 | g.94382727A>T | CA390849587 | SERPINA1 | c.511T>A (p.Phe171Ile) c.253T>A (p.Phe85Ile) | |
| 14 | g.94382728G>A | CA487622040 | SERPINA1 | c.510C>T (p.Asn170=) c.252C>T (p.Asn84=) | |
| 14 | g.94382728G>C | CA7327482 | SERPINA1 | c.510C>G (p.Asn170Lys) c.252C>G (p.Asn84Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94382728G= | CA2155954753 | SERPINA1 | c.510C= (p.Asn170=) c.252C= (p.Asn84=) | |
| 14 | g.94382728G>T | CA390849588 | SERPINA1 | c.510C>A (p.Asn170Lys) c.252C>A (p.Asn84Lys) | |
| 14 | g.94382729T>A | CA390849589 | SERPINA1 | c.509A>T (p.Asn170Ile) c.251A>T (p.Asn84Ile) | |
| 14 | g.94382729T>C | CA390849591 | SERPINA1 | c.509A>G (p.Asn170Ser) c.251A>G (p.Asn84Ser) | |
| 14 | g.94382729T>G | CA390849590 | SERPINA1 | c.509A>C (p.Asn170Thr) c.251A>C (p.Asn84Thr) | COSMIC |
| 14 | g.94382730T>A | CA390849592 | SERPINA1 | c.508A>T (p.Asn170Tyr) c.250A>T (p.Asn84Tyr) | |
| 14 | g.94382730T>C | CA390849594 | SERPINA1 | c.508A>G (p.Asn170Asp) c.250A>G (p.Asn84Asp) | |
| 14 | g.94382730T>G | CA390849593 | SERPINA1 | c.508A>C (p.Asn170His) c.250A>C (p.Asn84His) | gnomAD v4 |
| 14 | g.94382731G>A | CA487622041 | SERPINA1 | c.507C>T (p.Val169=) c.249C>T (p.Val83=) | |
| 14 | g.94382731G>C | CA487622042 | SERPINA1 | c.507C>G (p.Val169=) c.249C>G (p.Val83=) | |
| 14 | g.94382731G>T | CA487622043 | SERPINA1 | c.507C>A (p.Val169=) c.249C>A (p.Val83=) | |
| 14 | g.94382732A>C | CA390849595 | SERPINA1 | c.506T>G (p.Val169Gly) c.248T>G (p.Val83Gly) | |
| 14 | g.94382732A>G | CA390849597 | SERPINA1 | c.506T>C (p.Val169Ala) c.248T>C (p.Val83Ala) | |
| 14 | g.94382732A>T | CA390849596 | SERPINA1 | c.506T>A (p.Val169Asp) c.248T>A (p.Val83Asp) | gnomAD v4 |
| 14 | g.94382733C>A | CA390849598 | SERPINA1 | c.505G>T (p.Val169Phe) c.247G>T (p.Val83Phe) | |
| 14 | g.94382733C= | CA2155954754 | SERPINA1 | c.505G= (p.Val169=) c.247G= (p.Val83=) | |
| 14 | g.94382733C>G | CA390849600 | SERPINA1 | c.505G>C (p.Val169Leu) c.247G>C (p.Val83Leu) | |
| 14 | g.94382733C>T | CA390849599 | SERPINA1 | c.505G>A (p.Val169Ile) c.247G>A (p.Val83Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94382734A>C | CA487622044 | SERPINA1 | c.504T>G (p.Thr168=) c.246T>G (p.Thr82=) | |
| 14 | g.94382734A>G | CA487622046 | SERPINA1 | c.504T>C (p.Thr168=) c.246T>C (p.Thr82=) | |
| 14 | g.94382734A>T | CA487622045 | SERPINA1 | c.504T>A (p.Thr168=) c.246T>A (p.Thr82=) | |
| 14 | g.94382735G>A | CA390849601 | SERPINA1 | c.503C>T (p.Thr168Ile) c.245C>T (p.Thr82Ile) | |
| 14 | g.94382735G>C | CA390849602 | SERPINA1 | c.503C>G (p.Thr168Ser) c.245C>G (p.Thr82Ser) | |
| 14 | g.94382735G>T | CA390849603 | SERPINA1 | c.503C>A (p.Thr168Asn) c.245C>A (p.Thr82Asn) | |
| 14 | g.94382736T>A | CA390849604 | SERPINA1 | c.502A>T (p.Thr168Ser) c.244A>T (p.Thr82Ser) | |
| 14 | g.94382736T>C | CA7327483 | SERPINA1 | c.502A>G (p.Thr168Ala) c.244A>G (p.Thr82Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94382736T>G | CA390849605 | SERPINA1 | c.502A>C (p.Thr168Pro) c.244A>C (p.Thr82Pro) | |
| 14 | g.94382736T= | CA2155954755 | SERPINA1 | c.502A= (p.Thr168=) c.244A= (p.Thr82=) | |
| 14 | g.94382737G>A | CA487622047 | SERPINA1 | c.501C>T (p.Phe167=) c.243C>T (p.Phe81=) | |
| 14 | g.94382737G>C | CA390849606 | SERPINA1 | c.501C>G (p.Phe167Leu) c.243C>G (p.Phe81Leu) | |
| 14 | g.94382737G>T | CA390849607 | SERPINA1 | c.501C>A (p.Phe167Leu) c.243C>A (p.Phe81Leu) |