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.94383008G>A | CA127738 | SERPINA1 | c.230C>T (p.Ser77Phe) c.-23-6C>T (n.-23-6C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383008G>C | CA390850509 | SERPINA1 | c.230C>G (p.Ser77Cys) c.-23-6C>G (n.-23-6C>G) | |
| 14 | g.94383008G= | CA2155954887 | SERPINA1 | c.230C= (p.Ser77=) c.-23-6C= (n.-23-6C=) | |
| 14 | g.94383008G>T | CA390850508 | SERPINA1 | c.230C>A (p.Ser77Tyr) c.-23-6C>A (n.-23-6C>A) | |
| 14 | g.94383008_94383011delinsGAGA | CA2155954888 | SERPINA1 | c.227_230delinsTCTC (p.Phe76=) c.-23-9_-23-6delinsTCTC (n.-23-9_-23-6delinsTCTC) | |
| 14 | g.94383009A>C | CA390850510 | SERPINA1 | c.229T>G (p.Ser77Ala) c.-23-7T>G (n.-23-7T>G) | |
| 14 | g.94383009A>G | CA390850511 | SERPINA1 | c.229T>C (p.Ser77Pro) c.-23-7T>C (n.-23-7T>C) | |
| 14 | g.94383009A>T | CA390850512 | SERPINA1 | c.229T>A (p.Ser77Thr) c.-23-7T>A (n.-23-7T>A) | |
| 14 | g.94383015_94383017del | CA347671 | SERPINA1 | c.227_229del (p.Phe76del) c.-23-9_-23-7del (n.-23-9_-23-7del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383010G>A | CA487841151 | SERPINA1 | c.228C>T (p.Phe76=) c.-23-8C>T (n.-23-8C>T) | |
| 14 | g.94383010G>C | CA390850513 | SERPINA1 | c.228C>G (p.Phe76Leu) c.-23-8C>G (n.-23-8C>G) | |
| 14 | g.94383010G>T | CA390850514 | SERPINA1 | c.228C>A (p.Phe76Leu) c.-23-8C>A (n.-23-8C>A) | |
| 14 | g.94383011A= | CA2155954889 | SERPINA1 | c.227T= (p.Phe76=) c.-23-9T= (n.-23-9T=) | |
| 14 | g.94383011A>C | CA390850515 | SERPINA1 | c.227T>G (p.Phe76Cys) c.-23-9T>G (n.-23-9T>G) | gnomAD v4 |
| 14 | g.94383011A>G | CA390850516 | SERPINA1 | c.227T>C (p.Phe76Ser) c.-23-9T>C (n.-23-9T>C) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383011A>T | CA390850517 | SERPINA1 | c.227T>A (p.Phe76Tyr) c.-23-9T>A (n.-23-9T>A) | |
| 14 | g.94383011_94383017del | CA2626310091 | SERPINA1 | c.221_227del (p.Ile74ThrfsTer4) c.-23-15_-23-9del (n.-23-15_-23-9del) | gnomAD v4 |
| 14 | g.94383012A= | CA2155954890 | SERPINA1 | c.226T= (p.Phe76=) c.-23-10T= (n.-23-10T=) | |
| 14 | g.94383012A>C | CA390850520 | SERPINA1 | c.226T>G (p.Phe76Val) c.-23-10T>G (n.-23-10T>G) | |
| 14 | g.94383012A>G | CA390850519 | SERPINA1 | c.226T>C (p.Phe76Leu) c.-23-10T>C (n.-23-10T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383012A>T | CA390850518 | SERPINA1 | c.226T>A (p.Phe76Ile) c.-23-10T>A (n.-23-10T>A) | |
| 14 | g.94383013del | CA2526467078 | SERPINA1 | c.225del (p.Phe76SerfsTer4) c.-23-11del (n.-23-11del) | |
| 14 | g.94383013G>A | CA487841153 | SERPINA1 | c.225C>T (p.Phe75=) c.-23-11C>T (n.-23-11C>T) | |
| 14 | g.94383013G>C | CA390850521 | SERPINA1 | c.225C>G (p.Phe75Leu) c.-23-11C>G (n.-23-11C>G) | |
| 14 | g.94383013G= | CA2155954891 | SERPINA1 | c.225C= (p.Phe75=) c.-23-11C= (n.-23-11C=) | |
| 14 | g.94383013G>T | CA390850522 | SERPINA1 | c.225C>A (p.Phe75Leu) c.-23-11C>A (n.-23-11C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94383014A= | CA2155954892 | SERPINA1 | c.224T= (p.Phe75=) c.-23-12T= (n.-23-12T=) | |
| 14 | g.94383014A>C | CA390850523 | SERPINA1 | c.224T>G (p.Phe75Cys) c.-23-12T>G (n.-23-12T>G) | |
| 14 | g.94383014A>G | CA265864174 | SERPINA1 | c.224T>C (p.Phe75Ser) c.-23-12T>C (n.-23-12T>C) | dbSNP |
| 14 | g.94383014A>T | CA390850524 | SERPINA1 | c.224T>A (p.Phe75Tyr) c.-23-12T>A (n.-23-12T>A) | |
| 14 | g.94383015A>C | CA390850525 | SERPINA1 | c.223T>G (p.Phe75Val) c.-23-13T>G (n.-23-13T>G) | |
| 14 | g.94383015A>G | CA390850526 | SERPINA1 | c.223T>C (p.Phe75Leu) c.-23-13T>C (n.-23-13T>C) | |
| 14 | g.94383015A>T | CA390850527 | SERPINA1 | c.223T>A (p.Phe75Ile) c.-23-13T>A (n.-23-13T>A) | COSMIC |
| 14 | g.94383016G>A | CA487841156 | SERPINA1 | c.222C>T (p.Ile74=) c.-23-14C>T (n.-23-14C>T) | |
| 14 | g.94383016G>C | CA390850528 | SERPINA1 | c.222C>G (p.Ile74Met) c.-23-14C>G (n.-23-14C>G) | |
| 14 | g.94383016G>T | CA487841157 | SERPINA1 | c.222C>A (p.Ile74=) c.-23-14C>A (n.-23-14C>A) | |
| 14 | g.94383017A= | CA2155954893 | SERPINA1 | c.221T= (p.Ile74=) c.-23-15T= (n.-23-15T=) | |
| 14 | g.94383017A>C | CA390850529 | SERPINA1 | c.221T>G (p.Ile74Ser) c.-23-15T>G (n.-23-15T>G) | |
| 14 | g.94383017A>G | CA390850530 | SERPINA1 | c.221T>C (p.Ile74Thr) c.-23-15T>C (n.-23-15T>C) | |
| 14 | g.94383017A>T | CA390850531 | SERPINA1 | c.221T>A (p.Ile74Asn) c.-23-15T>A (n.-23-15T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383018T>A | CA390850534 | SERPINA1 | c.220A>T (p.Ile74Phe) c.-23-16A>T (n.-23-16A>T) | |
| 14 | g.94383018T>C | CA390850532 | SERPINA1 | c.220A>G (p.Ile74Val) c.-23-16A>G (n.-23-16A>G) | |
| 14 | g.94383018T>G | CA390850533 | SERPINA1 | c.220A>C (p.Ile74Leu) c.-23-16A>C (n.-23-16A>C) | |
| 14 | g.94383019A>C | CA390850535 | SERPINA1 | c.219T>G (p.Asn73Lys) c.-23-17T>G (n.-23-17T>G) | |
| 14 | g.94383019A>G | CA487841160 | SERPINA1 | c.219T>C (p.Asn73=) c.-23-17T>C (n.-23-17T>C) | |
| 14 | g.94383019A>T | CA390850536 | SERPINA1 | c.219T>A (p.Asn73Lys) c.-23-17T>A (n.-23-17T>A) | |
| 14 | g.94383020T>A | CA390850537 | SERPINA1 | c.218A>T (p.Asn73Ile) c.-23-18A>T (n.-23-18A>T) | |
| 14 | g.94383020T>C | CA390850538 | SERPINA1 | c.218A>G (p.Asn73Ser) c.-23-18A>G (n.-23-18A>G) | |
| 14 | g.94383020T>G | CA390850539 | SERPINA1 | c.218A>C (p.Asn73Thr) c.-23-18A>C (n.-23-18A>C) | |
| 14 | g.94383020_94383021insACCCAG | CA2626310099 | SERPINA1 | c.217_218insCTGGGT (p.Asn73delinsThrGlyTyr) c.-23-19_-23-18insCTGGGT (n.-23-19_-23-18insCTGGGT) | gnomAD v4 |
| 14 | g.94383021T>A | CA390850540 | SERPINA1 | c.217A>T (p.Asn73Tyr) c.-23-19A>T (n.-23-19A>T) | |
| 14 | g.94383021T>C | CA390850541 | SERPINA1 | c.217A>G (p.Asn73Asp) c.-23-19A>G (n.-23-19A>G) | |
| 14 | g.94383021T>G | CA390850542 | SERPINA1 | c.217A>C (p.Asn73His) c.-23-19A>C (n.-23-19A>C) | |
| 14 | g.94383022G>A | CA487841163 | SERPINA1 | c.216C>T (p.Thr72=) c.-23-20C>T (n.-23-20C>T) | |
| 14 | g.94383022G>C | CA487841167 | SERPINA1 | c.216C>G (p.Thr72=) c.-23-20C>G (n.-23-20C>G) | |
| 14 | g.94383022G>T | CA487841164 | SERPINA1 | c.216C>A (p.Thr72=) c.-23-20C>A (n.-23-20C>A) | |
| 14 | g.94383023del | CA2695199863 | SERPINA1 | c.216del (p.Asn73IlefsTer7) c.-23-20del (n.-23-20del) | ClinVar |
| 14 | g.94383023G>A | CA390850543 | SERPINA1 | c.215C>T (p.Thr72Ile) c.-23-21C>T (n.-23-21C>T) | gnomAD v4 |
| 14 | g.94383023G>C | CA390850544 | SERPINA1 | c.215C>G (p.Thr72Ser) c.-23-21C>G (n.-23-21C>G) | gnomAD v4 |
| 14 | g.94383023G>T | CA390850545 | SERPINA1 | c.215C>A (p.Thr72Asn) c.-23-21C>A (n.-23-21C>A) | |
| 14 | g.94383024T>A | CA390850548 | SERPINA1 | c.214A>T (p.Thr72Ser) c.-23-22A>T (n.-23-22A>T) | |
| 14 | g.94383024T>C | CA390850547 | SERPINA1 | c.214A>G (p.Thr72Ala) c.-23-22A>G (n.-23-22A>G) | gnomAD v4 |
| 14 | g.94383024T>G | CA390850546 | SERPINA1 | c.214A>C (p.Thr72Pro) c.-23-22A>C (n.-23-22A>C) | |
| 14 | g.94383024_94383030del | CA2626310102 | SERPINA1 | c.208_214del (p.Asn70ProfsTer8) c.-23-28_-23-22del (n.-23-28_-23-22del) | gnomAD v4 |
| 14 | g.94383025G>A | CA487841173 | SERPINA1 | c.213C>T (p.Ser71=) c.-23-23C>T (n.-23-23C>T) | gnomAD v4 |
| 14 | g.94383025G>C | CA390850549 | SERPINA1 | c.213C>G (p.Ser71Arg) c.-23-23C>G (n.-23-23C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383025G= | CA2155954894 | SERPINA1 | c.213C= (p.Ser71=) c.-23-23C= (n.-23-23C=) | |
| 14 | g.94383025G>T | CA390850550 | SERPINA1 | c.213C>A (p.Ser71Arg) c.-23-23C>A (n.-23-23C>A) | |
| 14 | g.94383026C>A | CA390850551 | SERPINA1 | c.212G>T (p.Ser71Ile) c.-23-24G>T (n.-23-24G>T) | |
| 14 | g.94383026C>G | CA390850552 | SERPINA1 | c.212G>C (p.Ser71Thr) c.-23-24G>C (n.-23-24G>C) | |
| 14 | g.94383026C>T | CA390850553 | SERPINA1 | c.212G>A (p.Ser71Asn) c.-23-24G>A (n.-23-24G>A) | gnomAD v4 |
| 14 | g.94383027T>A | CA390850554 | SERPINA1 | c.211A>T (p.Ser71Cys) c.-23-25A>T (n.-23-25A>T) | |
| 14 | g.94383027T>C | CA390850555 | SERPINA1 | c.211A>G (p.Ser71Gly) c.-23-25A>G (n.-23-25A>G) | gnomAD v4 |
| 14 | g.94383027T>G | CA7327525 | SERPINA1 | c.211A>C (p.Ser71Arg) c.-23-25A>C (n.-23-25A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383027T= | CA2155954895 | SERPINA1 | c.211A= (p.Ser71=) c.-23-25A= (n.-23-25A=) | |
| 14 | g.94383028G>A | CA487841175 | SERPINA1 | c.210C>T (p.Asn70=) c.-23-26C>T (n.-23-26C>T) | ClinVar |
| 14 | g.94383028G>C | CA390850557 | SERPINA1 | c.210C>G (p.Asn70Lys) c.-23-26C>G (n.-23-26C>G) | |
| 14 | g.94383028G>T | CA390850556 | SERPINA1 | c.210C>A (p.Asn70Lys) c.-23-26C>A (n.-23-26C>A) | |
| 14 | g.94383029T>A | CA390850558 | SERPINA1 | c.209A>T (p.Asn70Ile) c.-23-27A>T (n.-23-27A>T) | |
| 14 | g.94383029T>C | CA390850559 | SERPINA1 | c.209A>G (p.Asn70Ser) c.-23-27A>G (n.-23-27A>G) | |
| 14 | g.94383029T>G | CA390850560 | SERPINA1 | c.209A>C (p.Asn70Thr) c.-23-27A>C (n.-23-27A>C) | |
| 14 | g.94383030T>A | CA390850561 | SERPINA1 | c.208A>T (p.Asn70Tyr) c.-23-28A>T (n.-23-28A>T) | |
| 14 | g.94383030T>C | CA390850562 | SERPINA1 | c.208A>G (p.Asn70Asp) c.-23-28A>G (n.-23-28A>G) | |
| 14 | g.94383030T>G | CA390850563 | SERPINA1 | c.208A>C (p.Asn70His) c.-23-28A>C (n.-23-28A>C) | |
| 14 | g.94383031G>A | CA265864176 | SERPINA1 | c.207C>T (p.Ser69=) c.-23-29C>T (n.-23-29C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383031G>C | CA487841179 | SERPINA1 | c.207C>G (p.Ser69=) c.-23-29C>G (n.-23-29C>G) | |
| 14 | g.94383031G= | CA2155954896 | SERPINA1 | c.207C= (p.Ser69=) c.-23-29C= (n.-23-29C=) | |
| 14 | g.94383031G>T | CA487841181 | SERPINA1 | c.207C>A (p.Ser69=) c.-23-29C>A (n.-23-29C>A) | |
| 14 | g.94383032G>A | CA7327526 | SERPINA1 | c.206C>T (p.Ser69Phe) c.-23-30C>T (n.-23-30C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383032G>C | CA390850565 | SERPINA1 | c.206C>G (p.Ser69Cys) c.-23-30C>G (n.-23-30C>G) | |
| 14 | g.94383032G= | CA2155954897 | SERPINA1 | c.206C= (p.Ser69=) c.-23-30C= (n.-23-30C=) | |
| 14 | g.94383032G>T | CA390850564 | SERPINA1 | c.206C>A (p.Ser69Tyr) c.-23-30C>A (n.-23-30C>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94383033A>C | CA390850566 | SERPINA1 | c.205T>G (p.Ser69Ala) c.-23-31T>G (n.-23-31T>G) | |
| 14 | g.94383033A>G | CA390850567 | SERPINA1 | c.205T>C (p.Ser69Pro) c.-23-31T>C (n.-23-31T>C) | |
| 14 | g.94383033A>T | CA390850568 | SERPINA1 | c.205T>A (p.Ser69Thr) c.-23-31T>A (n.-23-31T>A) | |
| 14 | g.94383034C>A | CA390850569 | SERPINA1 | c.204G>T (p.Gln68His) c.-23-32G>T (n.-23-32G>T) | |
| 14 | g.94383034C= | CA2155954898 | SERPINA1 | c.204G= (p.Gln68=) c.-23-32G= (n.-23-32G=) | |
| 14 | g.94383034C>G | CA390850570 | SERPINA1 | c.204G>C (p.Gln68His) c.-23-32G>C (n.-23-32G>C) | |
| 14 | g.94383034C>T | CA487841187 | SERPINA1 | c.204G>A (p.Gln68=) c.-23-32G>A (n.-23-32G>A) | dbSNP |
| 14 | g.94383034_94383036del | CA2626310124 | SERPINA1 | c.202_204del (p.Gln68del) c.-23-34_-23-32del (n.-23-34_-23-32del) | gnomAD v4 |
| 14 | g.94383035T>A | CA390850571 | SERPINA1 | c.203A>T (p.Gln68Leu) c.-23-33A>T (n.-23-33A>T) | |
| 14 | g.94383035T>C | CA390850572 | SERPINA1 | c.203A>G (p.Gln68Arg) c.-23-33A>G (n.-23-33A>G) | |
| 14 | g.94383035T>G | CA390850573 | SERPINA1 | c.203A>C (p.Gln68Pro) c.-23-33A>C (n.-23-33A>C) | gnomAD v4 |
| 14 | g.94383036G>A | CA390850574 | SERPINA1 | c.202C>T (p.Gln68Ter) c.-23-34C>T (n.-23-34C>T) | |
| 14 | g.94383036G>C | CA390850575 | SERPINA1 | c.202C>G (p.Gln68Glu) c.-23-34C>G (n.-23-34C>G) | |
| 14 | g.94383036G>T | CA390850576 | SERPINA1 | c.202C>A (p.Gln68Lys) c.-23-34C>A (n.-23-34C>A) | |
| 14 | g.94383037G>A | CA487841192 | SERPINA1 | c.201C>T (p.His67=) c.-23-35C>T (n.-23-35C>T) | |
| 14 | g.94383037G>C | CA7327527 | SERPINA1 | c.201C>G (p.His67Gln) c.-23-35C>G (n.-23-35C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383037G= | CA2155954899 | SERPINA1 | c.201C= (p.His67=) c.-23-35C= (n.-23-35C=) | |
| 14 | g.94383037G>T | CA390850577 | SERPINA1 | c.201C>A (p.His67Gln) c.-23-35C>A (n.-23-35C>A) | |
| 14 | g.94383038T>A | CA390850578 | SERPINA1 | c.200A>T (p.His67Leu) c.-23-36A>T (n.-23-36A>T) | |
| 14 | g.94383038T>C | CA390850579 | SERPINA1 | c.200A>G (p.His67Arg) c.-23-36A>G (n.-23-36A>G) | dbSNP |
| 14 | g.94383038T>G | CA390850580 | SERPINA1 | c.200A>C (p.His67Pro) c.-23-36A>C (n.-23-36A>C) | gnomAD v4 |
| 14 | g.94383038T= | CA2155954900 | SERPINA1 | c.200A= (p.His67=) c.-23-36A= (n.-23-36A=) | |
| 14 | g.94383039G>A | CA390850581 | SERPINA1 | c.199C>T (p.His67Tyr) c.-23-37C>T (n.-23-37C>T) | gnomAD v4 |
| 14 | g.94383039G>C | CA390850582 | SERPINA1 | c.199C>G (p.His67Asp) c.-23-37C>G (n.-23-37C>G) | |
| 14 | g.94383039G= | CA2155954901 | SERPINA1 | c.199C= (p.His67=) c.-23-37C= (n.-23-37C=) | |
| 14 | g.94383039G>T | CA350201 | SERPINA1 | c.199C>A (p.His67Asn) c.-23-37C>A (n.-23-37C>A) | ClinVar dbSNP COSMIC |
| 14 | g.94383040T>A | CA487841195 | SERPINA1 | c.198A>T (p.Ala66=) c.-23-38A>T (n.-23-38A>T) | |
| 14 | g.94383040T>C | CA487841196 | SERPINA1 | c.198A>G (p.Ala66=) c.-23-38A>G (n.-23-38A>G) | dbSNP |
| 14 | g.94383040T>G | CA487841197 | SERPINA1 | c.198A>C (p.Ala66=) c.-23-38A>C (n.-23-38A>C) | |
| 14 | g.94383040T= | CA2155954902 | SERPINA1 | c.198A= (p.Ala66=) c.-23-38A= (n.-23-38A=) | |
| 14 | g.94383040_94383041insACC | CA2626310136 | SERPINA1 | c.197_198insGGT (p.Ala66_His67insVal) c.-23-39_-23-38insGGT (n.-23-39_-23-38insGGT) | gnomAD v4 |
| 14 | g.94383041G>A | CA7327528 | SERPINA1 | c.197C>T (p.Ala66Val) c.-23-39C>T (n.-23-39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383041G>C | CA390850583 | SERPINA1 | c.197C>G (p.Ala66Gly) c.-23-39C>G (n.-23-39C>G) | |
| 14 | g.94383041G= | CA2155954903 | SERPINA1 | c.197C= (p.Ala66=) c.-23-39C= (n.-23-39C=) | |
| 14 | g.94383041G>T | CA390850584 | SERPINA1 | c.197C>A (p.Ala66Glu) c.-23-39C>A (n.-23-39C>A) | |
| 14 | g.94383042C>A | CA390850585 | SERPINA1 | c.196G>T (p.Ala66Ser) c.-23-40G>T (n.-23-40G>T) | |
| 14 | g.94383042C= | CA2155954904 | SERPINA1 | c.196G= (p.Ala66=) c.-23-40G= (n.-23-40G=) | |
| 14 | g.94383042C>G | CA390850586 | SERPINA1 | c.196G>C (p.Ala66Pro) c.-23-40G>C (n.-23-40G>C) | |
| 14 | g.94383042C>T | CA390850587 | SERPINA1 | c.196G>A (p.Ala66Thr) c.-23-40G>A (n.-23-40G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383043C>A | CA487841201 | SERPINA1 | c.195G>T (p.Leu65=) c.-23-41G>T (n.-23-41G>T) | |
| 14 | g.94383043C= | CA2155954905 | SERPINA1 | c.195G= (p.Leu65=) c.-23-41G= (n.-23-41G=) | |
| 14 | g.94383043C>G | CA487841203 | SERPINA1 | c.195G>C (p.Leu65=) c.-23-41G>C (n.-23-41G>C) | |
| 14 | g.94383043C>T | CA487841202 | SERPINA1 | c.195G>A (p.Leu65=) c.-23-41G>A (n.-23-41G>A) | dbSNP |
| 14 | g.94383044A= | CA2155954906 | SERPINA1 | c.194T= (p.Leu65=) c.-23-42T= (n.-23-42T=) | |
| 14 | g.94383044A>C | CA390850589 | SERPINA1 | c.194T>G (p.Leu65Arg) c.-23-42T>G (n.-23-42T>G) | |
| 14 | g.94383044A>G | CA127686 | SERPINA1 | c.194T>C (p.Leu65Pro) c.-23-42T>C (n.-23-42T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383044A>T | CA390850588 | SERPINA1 | c.194T>A (p.Leu65Gln) c.-23-42T>A (n.-23-42T>A) | |
| 14 | g.94383045G>A | CA487841206 | SERPINA1 | c.193C>T (p.Leu65=) c.-23-43C>T (n.-23-43C>T) | |
| 14 | g.94383045G>C | CA390850590 | SERPINA1 | c.193C>G (p.Leu65Val) c.-23-43C>G (n.-23-43C>G) | |
| 14 | g.94383045G>T | CA390850591 | SERPINA1 | c.193C>A (p.Leu65Met) c.-23-43C>A (n.-23-43C>A) | |
| 14 | g.94383046C>A | CA390850592 | SERPINA1 | c.192G>T (p.Gln64His) c.-23-44G>T (n.-23-44G>T) | |
| 14 | g.94383046C>G | CA390850593 | SERPINA1 | c.192G>C (p.Gln64His) c.-23-44G>C (n.-23-44G>C) | |
| 14 | g.94383046C>T | CA487841209 | SERPINA1 | c.192G>A (p.Gln64=) c.-23-44G>A (n.-23-44G>A) | |
| 14 | g.94383047del | CA1139770999 | SERPINA1 | c.191del (p.Gln64ArgfsTer16) c.-23-45del (n.-23-45del) | |
| 14 | g.94383047T>A | CA390850594 | SERPINA1 | c.191A>T (p.Gln64Leu) c.-23-45A>T (n.-23-45A>T) | |
| 14 | g.94383047T>C | CA7327529 | SERPINA1 | c.191A>G (p.Gln64Arg) c.-23-45A>G (n.-23-45A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383047T>G | CA390850595 | SERPINA1 | c.191A>C (p.Gln64Pro) c.-23-45A>C (n.-23-45A>C) | |
| 14 | g.94383047T= | CA2155954907 | SERPINA1 | c.191A= (p.Gln64=) c.-23-45A= (n.-23-45A=) | |
| 14 | g.94383048G>A | CA390850596 | SERPINA1 | c.190C>T (p.Gln64Ter) c.-23-46C>T (n.-23-46C>T) | |
| 14 | g.94383048G>C | CA390850597 | SERPINA1 | c.190C>G (p.Gln64Glu) c.-23-46C>G (n.-23-46C>G) | |
| 14 | g.94383048G= | CA2155954908 | SERPINA1 | c.190C= (p.Gln64=) c.-23-46C= (n.-23-46C=) | |
| 14 | g.94383048G>T | CA390850598 | SERPINA1 | c.190C>A (p.Gln64Lys) c.-23-46C>A (n.-23-46C>A) | dbSNP gnomAD v4 |
| 14 | g.94383049G>A | CA487841210 | SERPINA1 | c.189C>T (p.Arg63=) c.-23-47C>T (n.-23-47C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383049G>C | CA487841212 | SERPINA1 | c.189C>G (p.Arg63=) c.-23-47C>G (n.-23-47C>G) | |
| 14 | g.94383049G= | CA2155954909 | SERPINA1 | c.189C= (p.Arg63=) c.-23-47C= (n.-23-47C=) | |
| 14 | g.94383049G>T | CA487841214 | SERPINA1 | c.189C>A (p.Arg63=) c.-23-47C>A (n.-23-47C>A) | |
| 14 | g.94383050C>A | CA348069 | SERPINA1 | c.188G>T (p.Arg63Leu) c.-23-48G>T (n.-23-48G>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383050C= | CA2155954910 | SERPINA1 | c.188G= (p.Arg63=) c.-23-48G= (n.-23-48G=) | |
| 14 | g.94383050C>G | CA390850599 | SERPINA1 | c.188G>C (p.Arg63Pro) c.-23-48G>C (n.-23-48G>C) | |
| 14 | g.94383050C>T | CA7327530 | SERPINA1 | c.188G>A (p.Arg63His) c.-23-48G>A (n.-23-48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383051G>A | CA325650 | SERPINA1 | c.187C>T (p.Arg63Cys) c.-23-49C>T (n.-23-49C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94383051G>C | CA390850601 | SERPINA1 | c.187C>G (p.Arg63Gly) c.-23-49C>G (n.-23-49C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383051G= | CA2155954911 | SERPINA1 | c.187C= (p.Arg63=) c.-23-49C= (n.-23-49C=) | |
| 14 | g.94383051G>T | CA390850600 | SERPINA1 | c.187C>A (p.Arg63Ser) c.-23-49C>A (n.-23-49C>A) | |
| 14 | g.94383052G>A | CA487841217 | SERPINA1 | c.186C>T (p.Tyr62=) c.-23-50C>T (n.-23-50C>T) | |
| 14 | g.94383052G>C | CA390850602 | SERPINA1 | c.186C>G (p.Tyr62Ter) c.-23-50C>G (n.-23-50C>G) | |
| 14 | g.94383052G= | CA2155954912 | SERPINA1 | c.186C= (p.Tyr62=) c.-23-50C= (n.-23-50C=) | |
| 14 | g.94383052G>T | CA7327531 | SERPINA1 | c.186C>A (p.Tyr62Ter) c.-23-50C>A (n.-23-50C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383053T>A | CA390850604 | SERPINA1 | c.185A>T (p.Tyr62Phe) c.-23-51A>T (n.-23-51A>T) | |
| 14 | g.94383053T>C | CA390850603 | SERPINA1 | c.185A>G (p.Tyr62Cys) c.-23-51A>G (n.-23-51A>G) | |
| 14 | g.94383053T>G | CA390850605 | SERPINA1 | c.185A>C (p.Tyr62Ser) c.-23-51A>C (n.-23-51A>C) | |
| 14 | g.94383054A>C | CA390850606 | SERPINA1 | c.184T>G (p.Tyr62Asp) c.-23-52T>G (n.-23-52T>G) | |
| 14 | g.94383054A>G | CA390850607 | SERPINA1 | c.184T>C (p.Tyr62His) c.-23-52T>C (n.-23-52T>C) | |
| 14 | g.94383054A>T | CA390850608 | SERPINA1 | c.184T>A (p.Tyr62Asn) c.-23-52T>A (n.-23-52T>A) | |
| 14 | g.94383055T>A | CA487841221 | SERPINA1 | c.183A>T (p.Leu61=) c.-23-53A>T (n.-23-53A>T) | |
| 14 | g.94383055T>C | CA487841222 | SERPINA1 | c.183A>G (p.Leu61=) c.-23-53A>G (n.-23-53A>G) | dbSNP |
| 14 | g.94383055T>G | CA487841223 | SERPINA1 | c.183A>C (p.Leu61=) c.-23-53A>C (n.-23-53A>C) | gnomAD v4 |
| 14 | g.94383055T= | CA2155954913 | SERPINA1 | c.183A= (p.Leu61=) c.-23-53A= (n.-23-53A=) | |
| 14 | g.94383056A>C | CA390850609 | SERPINA1 | c.182T>G (p.Leu61Arg) c.-23-54T>G (n.-23-54T>G) | |
| 14 | g.94383056A>G | CA390850610 | SERPINA1 | c.182T>C (p.Leu61Pro) c.-23-54T>C (n.-23-54T>C) | |
| 14 | g.94383056A>T | CA390850611 | SERPINA1 | c.182T>A (p.Leu61Gln) c.-23-54T>A (n.-23-54T>A) | |
| 14 | g.94383057G>A | CA487841224 | SERPINA1 | c.181C>T (p.Leu61=) c.-23-55C>T (n.-23-55C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383057G>C | CA390850612 | SERPINA1 | c.181C>G (p.Leu61Val) c.-23-55C>G (n.-23-55C>G) | |
| 14 | g.94383057G= | CA2155954914 | SERPINA1 | c.181C= (p.Leu61=) c.-23-55C= (n.-23-55C=) | |
| 14 | g.94383057G>T | CA390850613 | SERPINA1 | c.181C>A (p.Leu61Ile) c.-23-55C>A (n.-23-55C>A) | |
| 14 | g.94383058G>A | CA487841228 | SERPINA1 | c.180C>T (p.Ser60=) c.-23-56C>T (n.-23-56C>T) | |
| 14 | g.94383058G>C | CA349449 | SERPINA1 | c.180C>G (p.Ser60Arg) c.-23-56C>G (n.-23-56C>G) | ClinVar dbSNP |
| 14 | g.94383058G= | CA2155954915 | SERPINA1 | c.180C= (p.Ser60=) c.-23-56C= (n.-23-56C=) | |
| 14 | g.94383058G>T | CA390850614 | SERPINA1 | c.180C>A (p.Ser60Arg) c.-23-56C>A (n.-23-56C>A) | gnomAD v4 |
| 14 | g.94383059C>A | CA390850615 | SERPINA1 | c.179G>T (p.Ser60Ile) c.-23-57G>T (n.-23-57G>T) | |
| 14 | g.94383059C>G | CA390850616 | SERPINA1 | c.179G>C (p.Ser60Thr) c.-23-57G>C (n.-23-57G>C) | |
| 14 | g.94383059C>T | CA390850617 | SERPINA1 | c.179G>A (p.Ser60Asn) c.-23-57G>A (n.-23-57G>A) | gnomAD v4 |
| 14 | g.94383060T>A | CA390850619 | SERPINA1 | c.178A>T (p.Ser60Cys) c.-23-58A>T (n.-23-58A>T) | |
| 14 | g.94383060T>C | CA7327532 | SERPINA1 | c.178A>G (p.Ser60Gly) c.-23-58A>G (n.-23-58A>G) | dbSNP ExAC gnomAD v2 |
| 14 | g.94383060T>G | CA390850618 | SERPINA1 | c.178A>C (p.Ser60Arg) c.-23-58A>C (n.-23-58A>C) | |
| 14 | g.94383060T= | CA2155954916 | SERPINA1 | c.178A= (p.Ser60=) c.-23-58A= (n.-23-58A=) | |
| 14 | g.94383060_94383066delinsTGAAGGC | CA2155954917 | SERPINA1 | c.172_178delinsGCCTTCA (p.Ala58=) c.-23-64_-23-58delinsGCCTTCA (n.-23-64_-23-58delinsGCCTTCA) | |
| 14 | g.94383061G>A | CA487841233 | SERPINA1 | c.177C>T (p.Phe59=) c.-23-59C>T (n.-23-59C>T) | |
| 14 | g.94383061G>C | CA390850620 | SERPINA1 | c.177C>G (p.Phe59Leu) c.-23-59C>G (n.-23-59C>G) | |
| 14 | g.94383061G>T | CA390850621 | SERPINA1 | c.177C>A (p.Phe59Leu) c.-23-59C>A (n.-23-59C>A) | |
| 14 | g.94383064_94383069del | CA710097476 | SERPINA1 | c.172_177del (p.Ala58_Phe59del) c.-23-64_-23-59del (n.-23-64_-23-59del) | dbSNP |
| 14 | g.94383062A= | CA2155954918 | SERPINA1 | c.176T= (p.Phe59=) c.-23-60T= (n.-23-60T=) | |
| 14 | g.94383062A>C | CA390850622 | SERPINA1 | c.176T>G (p.Phe59Cys) c.-23-60T>G (n.-23-60T>G) | dbSNP gnomAD v2 |
| 14 | g.94383062A>G | CA390850623 | SERPINA1 | c.176T>C (p.Phe59Ser) c.-23-60T>C (n.-23-60T>C) | |
| 14 | g.94383062A>T | CA390850624 | SERPINA1 | c.176T>A (p.Phe59Tyr) c.-23-60T>A (n.-23-60T>A) | |
| 14 | g.94383063A>C | CA390850625 | SERPINA1 | c.175T>G (p.Phe59Val) c.-23-61T>G (n.-23-61T>G) | |
| 14 | g.94383063A>G | CA390850626 | SERPINA1 | c.175T>C (p.Phe59Leu) c.-23-61T>C (n.-23-61T>C) | |
| 14 | g.94383063A>T | CA390850627 | SERPINA1 | c.175T>A (p.Phe59Ile) c.-23-61T>A (n.-23-61T>A) | |
| 14 | g.94383064G>A | CA487841238 | SERPINA1 | c.174C>T (p.Ala58=) c.-23-62C>T (n.-23-62C>T) | gnomAD v4 |
| 14 | g.94383064G>C | CA487841241 | SERPINA1 | c.174C>G (p.Ala58=) c.-23-62C>G (n.-23-62C>G) | |
| 14 | g.94383064G>T | CA487841236 | SERPINA1 | c.174C>A (p.Ala58=) c.-23-62C>A (n.-23-62C>A) | |
| 14 | g.94383065G>A | CA390850628 | SERPINA1 | c.173C>T (p.Ala58Val) c.-23-63C>T (n.-23-63C>T) | dbSNP |
| 14 | g.94383065G>C | CA265864184 | SERPINA1 | c.173C>G (p.Ala58Gly) c.-23-63C>G (n.-23-63C>G) | dbSNP |
| 14 | g.94383065G= | CA2155954919 | SERPINA1 | c.173C= (p.Ala58=) c.-23-63C= (n.-23-63C=) | |
| 14 | g.94383065G>T | CA390850629 | SERPINA1 | c.173C>A (p.Ala58Asp) c.-23-63C>A (n.-23-63C>A) | |
| 14 | g.94383066C>A | CA7327534 | SERPINA1 | c.172G>T (p.Ala58Ser) c.-23-64G>T (n.-23-64G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383066C= | CA2155954920 | SERPINA1 | c.172G= (p.Ala58=) c.-23-64G= (n.-23-64G=) | |
| 14 | g.94383066C>G | CA390850630 | SERPINA1 | c.172G>C (p.Ala58Pro) c.-23-64G>C (n.-23-64G>C) | |
| 14 | g.94383066C>T | CA7327533 | SERPINA1 | c.172G>A (p.Ala58Thr) c.-23-64G>A (n.-23-64G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383067G>A | CA7327535 | SERPINA1 | c.171C>T (p.Phe57=) c.-23-65C>T (n.-23-65C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94383067G>C | CA390850631 | SERPINA1 | c.171C>G (p.Phe57Leu) c.-23-65C>G (n.-23-65C>G) | |
| 14 | g.94383067G= | CA2155954921 | SERPINA1 | c.171C= (p.Phe57=) c.-23-65C= (n.-23-65C=) | |
| 14 | g.94383067G>T | CA390850632 | SERPINA1 | c.171C>A (p.Phe57Leu) c.-23-65C>A (n.-23-65C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383068A>C | CA390850633 | SERPINA1 | c.170T>G (p.Phe57Cys) c.-23-66T>G (n.-23-66T>G) | |
| 14 | g.94383068A>G | CA390850634 | SERPINA1 | c.170T>C (p.Phe57Ser) c.-23-66T>C (n.-23-66T>C) | |
| 14 | g.94383068A>T | CA390850635 | SERPINA1 | c.170T>A (p.Phe57Tyr) c.-23-66T>A (n.-23-66T>A) | |
| 14 | g.94383069A= | CA2155954922 | SERPINA1 | c.169T= (p.Phe57=) c.-23-67T= (n.-23-67T=) | |
| 14 | g.94383069A>C | CA390850638 | SERPINA1 | c.169T>G (p.Phe57Val) c.-23-67T>G (n.-23-67T>G) | |
| 14 | g.94383069A>G | CA390850636 | SERPINA1 | c.169T>C (p.Phe57Leu) c.-23-67T>C (n.-23-67T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383069A>T | CA390850637 | SERPINA1 | c.169T>A (p.Phe57Ile) c.-23-67T>A (n.-23-67T>A) | |
| 14 | g.94383070C>A | CA390850639 | SERPINA1 | c.168G>T (p.Glu56Asp) c.-23-68G>T (n.-23-68G>T) | |
| 14 | g.94383070C>G | CA390850640 | SERPINA1 | c.168G>C (p.Glu56Asp) c.-23-68G>C (n.-23-68G>C) | gnomAD v4 |
| 14 | g.94383070C>T | CA487841249 | SERPINA1 | c.168G>A (p.Glu56=) c.-23-68G>A (n.-23-68G>A) | |
| 14 | g.94383071T>A | CA390850641 | SERPINA1 | c.167A>T (p.Glu56Val) c.-23-69A>T (n.-23-69A>T) | |
| 14 | g.94383071T>C | CA390850642 | SERPINA1 | c.167A>G (p.Glu56Gly) c.-23-69A>G (n.-23-69A>G) | |
| 14 | g.94383071T>G | CA390850643 | SERPINA1 | c.167A>C (p.Glu56Ala) c.-23-69A>C (n.-23-69A>C) | |
| 14 | g.94383072C>A | CA390850644 | SERPINA1 | c.166G>T (p.Glu56Ter) c.-23-70G>T (n.-23-70G>T) | |
| 14 | g.94383072C>G | CA390850646 | SERPINA1 | c.166G>C (p.Glu56Gln) c.-23-70G>C (n.-23-70G>C) | gnomAD v4 |
| 14 | g.94383072C>T | CA390850645 | SERPINA1 | c.166G>A (p.Glu56Lys) c.-23-70G>A (n.-23-70G>A) | |
| 14 | g.94383073A= | CA2155954923 | SERPINA1 | c.165T= (p.Ala55=) c.-23-71T= (n.-23-71T=) | |
| 14 | g.94383073A>C | CA487841250 | SERPINA1 | c.165T>G (p.Ala55=) c.-23-71T>G (n.-23-71T>G) | |
| 14 | g.94383073A>G | CA487841251 | SERPINA1 | c.165T>C (p.Ala55=) c.-23-71T>C (n.-23-71T>C) | ClinVar dbSNP |
| 14 | g.94383073A>T | CA487841252 | SERPINA1 | c.165T>A (p.Ala55=) c.-23-71T>A (n.-23-71T>A) | |
| 14 | g.94383074G>A | CA390850647 | SERPINA1 | c.164C>T (p.Ala55Val) c.-23-72C>T (n.-23-72C>T) | gnomAD v4 |
| 14 | g.94383074G>C | CA390850648 | SERPINA1 | c.164C>G (p.Ala55Gly) c.-23-72C>G (n.-23-72C>G) | |
| 14 | g.94383074G>T | CA390850649 | SERPINA1 | c.164C>A (p.Ala55Asp) c.-23-72C>A (n.-23-72C>A) | |
| 14 | g.94383075C>A | CA390850650 | SERPINA1 | c.163G>T (p.Ala55Ser) c.-23-73G>T (n.-23-73G>T) | |
| 14 | g.94383075C= | CA2155954924 | SERPINA1 | c.163G= (p.Ala55=) c.-23-73G= (n.-23-73G=) | |
| 14 | g.94383075C>G | CA7327536 | SERPINA1 | c.163G>C (p.Ala55Pro) c.-23-73G>C (n.-23-73G>C) | dbSNP ExAC gnomAD v4 |
| 14 | g.94383075C>T | CA390850651 | SERPINA1 | c.163G>A (p.Ala55Thr) c.-23-73G>A (n.-23-73G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383076C>A | CA487841259 | SERPINA1 | c.162G>T (p.Leu54=) c.-23-74G>T (n.-23-74G>T) | |
| 14 | g.94383076C= | CA2155954926 | SERPINA1 | c.162G= (p.Leu54=) c.-23-74G= (n.-23-74G=) | |
| 14 | g.94383076C>G | CA265864188 | SERPINA1 | c.162G>C (p.Leu54=) c.-23-74G>C (n.-23-74G>C) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383076C>T | CA487841260 | SERPINA1 | c.162G>A (p.Leu54=) c.-23-74G>A (n.-23-74G>A) | |
| 14 | g.94383076_94383079delinsCAGG | CA2155954925 | SERPINA1 | c.159_162delinsCCTG (p.Asn53=) c.-23-77_-23-74delinsCCTG (n.-23-77_-23-74delinsCCTG) | |
| 14 | g.94383077A>C | CA390850652 | SERPINA1 | c.161T>G (p.Leu54Arg) c.-23-75T>G (n.-23-75T>G) | |
| 14 | g.94383077A>G | CA390850653 | SERPINA1 | c.161T>C (p.Leu54Pro) c.-23-75T>C (n.-23-75T>C) | |
| 14 | g.94383077A>T | CA390850654 | SERPINA1 | c.161T>A (p.Leu54Gln) c.-23-75T>A (n.-23-75T>A) | |
| 14 | g.94383077_94383079del | CA7327537 | SERPINA1 | c.159_161del (p.Asn53_Leu54delinsLys) c.-23-77_-23-75del (n.-23-77_-23-75del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383078G>A | CA265864191 | SERPINA1 | c.160C>T (p.Leu54=) c.-23-76C>T (n.-23-76C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383078G>C | CA390850656 | SERPINA1 | c.160C>G (p.Leu54Val) c.-23-76C>G (n.-23-76C>G) | |
| 14 | g.94383078G= | CA2155954927 | SERPINA1 | c.160C= (p.Leu54=) c.-23-76C= (n.-23-76C=) | |
| 14 | g.94383078G>T | CA390850655 | SERPINA1 | c.160C>A (p.Leu54Met) c.-23-76C>A (n.-23-76C>A) | |
| 14 | g.94383079G>A | CA487841262 | SERPINA1 | c.159C>T (p.Asn53=) c.-23-77C>T (n.-23-77C>T) | |
| 14 | g.94383079G>C | CA390850657 | SERPINA1 | c.159C>G (p.Asn53Lys) c.-23-77C>G (n.-23-77C>G) | |
| 14 | g.94383079G>T | CA390850658 | SERPINA1 | c.159C>A (p.Asn53Lys) c.-23-77C>A (n.-23-77C>A) | gnomAD v4 |
| 14 | g.94383080T>A | CA390850659 | SERPINA1 | c.158A>T (p.Asn53Ile) c.-23-78A>T (n.-23-78A>T) | dbSNP |
| 14 | g.94383080T>C | CA265864192 | SERPINA1 | c.158A>G (p.Asn53Ser) c.-23-78A>G (n.-23-78A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383080T>G | CA390850660 | SERPINA1 | c.158A>C (p.Asn53Thr) c.-23-78A>C (n.-23-78A>C) | |
| 14 | g.94383080T= | CA2155954928 | SERPINA1 | c.158A= (p.Asn53=) c.-23-78A= (n.-23-78A=) | |
| 14 | g.94383081T>A | CA390850661 | SERPINA1 | c.157A>T (p.Asn53Tyr) c.-23-79A>T (n.-23-79A>T) | |
| 14 | g.94383081T>C | CA390850662 | SERPINA1 | c.157A>G (p.Asn53Asp) c.-23-79A>G (n.-23-79A>G) | gnomAD v4 |
| 14 | g.94383081T>G | CA390850663 | SERPINA1 | c.157A>C (p.Asn53His) c.-23-79A>C (n.-23-79A>C) | |
| 14 | g.94383082G>A | CA487841267 | SERPINA1 | c.156C>T (p.Pro52=) c.-23-80C>T (n.-23-80C>T) | COSMIC |
| 14 | g.94383082G>C | CA487841268 | SERPINA1 | c.156C>G (p.Pro52=) c.-23-80C>G (n.-23-80C>G) | |
| 14 | g.94383082G= | CA2155954929 | SERPINA1 | c.156C= (p.Pro52=) c.-23-80C= (n.-23-80C=) | |
| 14 | g.94383082G>T | CA487841270 | SERPINA1 | c.156C>A (p.Pro52=) c.-23-80C>A (n.-23-80C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383086del | CA645582241 | SERPINA1 | c.156del (p.Asn53ThrfsTer27) c.-23-80del (n.-23-80del) | COSMIC |
| 14 | g.94383083G>A | CA265864194 | SERPINA1 | c.155C>T (p.Pro52Leu) c.-23-81C>T (n.-23-81C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383083G>C | CA390850664 | SERPINA1 | c.155C>G (p.Pro52Arg) c.-23-81C>G (n.-23-81C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383083G= | CA2155954930 | SERPINA1 | c.155C= (p.Pro52=) c.-23-81C= (n.-23-81C=) | |
| 14 | g.94383083G>T | CA390850665 | SERPINA1 | c.155C>A (p.Pro52His) c.-23-81C>A (n.-23-81C>A) | |
| 14 | g.94383084G>A | CA390850666 | SERPINA1 | c.154C>T (p.Pro52Ser) c.-23-82C>T (n.-23-82C>T) | |
| 14 | g.94383084G>C | CA390850667 | SERPINA1 | c.154C>G (p.Pro52Ala) c.-23-82C>G (n.-23-82C>G) | dbSNP |
| 14 | g.94383084G= | CA2155954931 | SERPINA1 | c.154C= (p.Pro52=) c.-23-82C= (n.-23-82C=) | |
| 14 | g.94383084G>T | CA390850668 | SERPINA1 | c.154C>A (p.Pro52Thr) c.-23-82C>A (n.-23-82C>A) | |
| 14 | g.94383085G>A | CA487841274 | SERPINA1 | c.153C>T (p.Thr51=) c.-23-83C>T (n.-23-83C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383085G>C | CA487841276 | SERPINA1 | c.153C>G (p.Thr51=) c.-23-83C>G (n.-23-83C>G) | |
| 14 | g.94383085G= | CA2155954932 | SERPINA1 | c.153C= (p.Thr51=) c.-23-83C= (n.-23-83C=) | |
| 14 | g.94383085G>T | CA487841275 | SERPINA1 | c.153C>A (p.Thr51=) c.-23-83C>A (n.-23-83C>A) | |
| 14 | g.94383086G>A | CA390850671 | SERPINA1 | c.152C>T (p.Thr51Ile) c.-23-84C>T (n.-23-84C>T) | gnomAD v4 COSMIC |
| 14 | g.94383086G>C | CA390850670 | SERPINA1 | c.152C>G (p.Thr51Ser) c.-23-84C>G (n.-23-84C>G) | |
| 14 | g.94383086G>T | CA390850669 | SERPINA1 | c.152C>A (p.Thr51Asn) c.-23-84C>A (n.-23-84C>A) | |
| 14 | g.94383087T>A | CA390850672 | SERPINA1 | c.151A>T (p.Thr51Ser) c.-23-85A>T (n.-23-85A>T) | |
| 14 | g.94383087T>C | CA390850673 | SERPINA1 | c.151A>G (p.Thr51Ala) c.-23-85A>G (n.-23-85A>G) | |
| 14 | g.94383087T>G | CA390850674 | SERPINA1 | c.151A>C (p.Thr51Pro) c.-23-85A>C (n.-23-85A>C) | dbSNP |
| 14 | g.94383087T= | CA2155954933 | SERPINA1 | c.151A= (p.Thr51=) c.-23-85A= (n.-23-85A=) | |
| 14 | g.94383088G>A | CA487841278 | SERPINA1 | c.150C>T (p.Ile50=) c.-23-86C>T (n.-23-86C>T) | |
| 14 | g.94383088G>C | CA390850675 | SERPINA1 | c.150C>G (p.Ile50Met) c.-23-86C>G (n.-23-86C>G) | |
| 14 | g.94383088G>T | CA487841280 | SERPINA1 | c.150C>A (p.Ile50=) c.-23-86C>A (n.-23-86C>A) | |
| 14 | g.94383089A>C | CA390850676 | SERPINA1 | c.149T>G (p.Ile50Ser) c.-23-87T>G (n.-23-87T>G) | |
| 14 | g.94383089A>G | CA390850677 | SERPINA1 | c.149T>C (p.Ile50Thr) c.-23-87T>C (n.-23-87T>C) | |
| 14 | g.94383089A>T | CA390850678 | SERPINA1 | c.149T>A (p.Ile50Asn) c.-23-87T>A (n.-23-87T>A) | |
| 14 | g.94383090T>A | CA390850679 | SERPINA1 | c.148A>T (p.Ile50Phe) c.-23-88A>T (n.-23-88A>T) | |
| 14 | g.94383090T>C | CA390850680 | SERPINA1 | c.148A>G (p.Ile50Val) c.-23-88A>G (n.-23-88A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383090T>G | CA265864195 | SERPINA1 | c.148A>C (p.Ile50Leu) c.-23-88A>C (n.-23-88A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383090T= | CA2155954934 | SERPINA1 | c.148A= (p.Ile50=) c.-23-88A= (n.-23-88A=) | |
| 14 | g.94383091C>A | CA390850681 | SERPINA1 | c.147G>T (p.Lys49Asn) c.-23-89G>T (n.-23-89G>T) | |
| 14 | g.94383091C>G | CA390850682 | SERPINA1 | c.147G>C (p.Lys49Asn) c.-23-89G>C (n.-23-89G>C) | |
| 14 | g.94383091C>T | CA487841284 | SERPINA1 | c.147G>A (p.Lys49=) c.-23-89G>A (n.-23-89G>A) | gnomAD v4 |
| 14 | g.94383092T>A | CA390850685 | SERPINA1 | c.146A>T (p.Lys49Met) c.-23-90A>T (n.-23-90A>T) | |
| 14 | g.94383092T>C | CA390850684 | SERPINA1 | c.146A>G (p.Lys49Arg) c.-23-90A>G (n.-23-90A>G) | |
| 14 | g.94383092T>G | CA390850683 | SERPINA1 | c.146A>C (p.Lys49Thr) c.-23-90A>C (n.-23-90A>C) | |
| 14 | g.94383093T>A | CA390850686 | SERPINA1 | c.145A>T (p.Lys49Ter) c.-23-91A>T (n.-23-91A>T) | |
| 14 | g.94383093T>C | CA390850687 | SERPINA1 | c.145A>G (p.Lys49Glu) c.-23-91A>G (n.-23-91A>G) | |
| 14 | g.94383093T>G | CA390850688 | SERPINA1 | c.145A>C (p.Lys49Gln) c.-23-91A>C (n.-23-91A>C) | |
| 14 | g.94383094G>A | CA487841287 | SERPINA1 | c.144C>T (p.Asn48=) c.-23-92C>T (n.-23-92C>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94383094G>C | CA390850689 | SERPINA1 | c.144C>G (p.Asn48Lys) c.-23-92C>G (n.-23-92C>G) | |
| 14 | g.94383094G= | CA2155954935 | SERPINA1 | c.144C= (p.Asn48=) c.-23-92C= (n.-23-92C=) | |
| 14 | g.94383094G>T | CA390850690 | SERPINA1 | c.144C>A (p.Asn48Lys) c.-23-92C>A (n.-23-92C>A) | |
| 14 | g.94383095T>A | CA390850691 | SERPINA1 | c.143A>T (p.Asn48Ile) c.-23-93A>T (n.-23-93A>T) | |
| 14 | g.94383095T>C | CA390850692 | SERPINA1 | c.143A>G (p.Asn48Ser) c.-23-93A>G (n.-23-93A>G) | gnomAD v4 |
| 14 | g.94383095T>G | CA390850693 | SERPINA1 | c.143A>C (p.Asn48Thr) c.-23-93A>C (n.-23-93A>C) | |
| 14 | g.94383096T>A | CA390850694 | SERPINA1 | c.142A>T (p.Asn48Tyr) c.-23-94A>T (n.-23-94A>T) | |
| 14 | g.94383096T>C | CA390850695 | SERPINA1 | c.142A>G (p.Asn48Asp) c.-23-94A>G (n.-23-94A>G) | |
| 14 | g.94383096T>G | CA390850696 | SERPINA1 | c.142A>C (p.Asn48His) c.-23-94A>C (n.-23-94A>C) | |
| 14 | g.94383097G>A | CA487841291 | SERPINA1 | c.141C>T (p.Phe47=) c.-23-95C>T (n.-23-95C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383097G>C | CA390850697 | SERPINA1 | c.141C>G (p.Phe47Leu) c.-23-95C>G (n.-23-95C>G) | |
| 14 | g.94383097G= | CA2155954936 | SERPINA1 | c.141C= (p.Phe47=) c.-23-95C= (n.-23-95C=) | |
| 14 | g.94383097G>T | CA390850698 | SERPINA1 | c.141C>A (p.Phe47Leu) c.-23-95C>A (n.-23-95C>A) | |
| 14 | g.94383098A>C | CA390850701 | SERPINA1 | c.140T>G (p.Phe47Cys) c.-23-96T>G (n.-23-96T>G) | |
| 14 | g.94383098A>G | CA390850699 | SERPINA1 | c.140T>C (p.Phe47Ser) c.-23-96T>C (n.-23-96T>C) | |
| 14 | g.94383098A>T | CA390850700 | SERPINA1 | c.140T>A (p.Phe47Tyr) c.-23-96T>A (n.-23-96T>A) | |
| 14 | g.94383099A= | CA2155954937 | SERPINA1 | c.139T= (p.Phe47=) c.-23-97T= (n.-23-97T=) | |
| 14 | g.94383099A>C | CA390850702 | SERPINA1 | c.139T>G (p.Phe47Val) c.-23-97T>G (n.-23-97T>G) | |
| 14 | g.94383099A>G | CA265864196 | SERPINA1 | c.139T>C (p.Phe47Leu) c.-23-97T>C (n.-23-97T>C) | dbSNP |
| 14 | g.94383099A>T | CA390850703 | SERPINA1 | c.139T>A (p.Phe47Ile) c.-23-97T>A (n.-23-97T>A) | |
| 14 | g.94383100G>A | CA487841293 | SERPINA1 | c.138C>T (p.Thr46=) c.-23-98C>T (n.-23-98C>T) | COSMIC |
| 14 | g.94383100G>C | CA265864198 | SERPINA1 | c.138C>G (p.Thr46=) c.-23-98C>G (n.-23-98C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383100G= | CA2155954938 | SERPINA1 | c.138C= (p.Thr46=) c.-23-98C= (n.-23-98C=) | |
| 14 | g.94383100G>T | CA487841294 | SERPINA1 | c.138C>A (p.Thr46=) c.-23-98C>A (n.-23-98C>A) | |
| 14 | g.94383101G>A | CA390850704 | SERPINA1 | c.137C>T (p.Thr46Ile) c.-23-99C>T (n.-23-99C>T) | gnomAD v4 |
| 14 | g.94383101G>C | CA390850705 | SERPINA1 | c.137C>G (p.Thr46Ser) c.-23-99C>G (n.-23-99C>G) | |
| 14 | g.94383101G= | CA2155954939 | SERPINA1 | c.137C= (p.Thr46=) c.-23-99C= (n.-23-99C=) | |
| 14 | g.94383101G>T | CA390850706 | SERPINA1 | c.137C>A (p.Thr46Asn) c.-23-99C>A (n.-23-99C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383102T>A | CA390850707 | SERPINA1 | c.136A>T (p.Thr46Ser) c.-23-100A>T (n.-23-100A>T) | |
| 14 | g.94383102T>C | CA390850708 | SERPINA1 | c.136A>G (p.Thr46Ala) c.-23-100A>G (n.-23-100A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383102T>G | CA390850709 | SERPINA1 | c.136A>C (p.Thr46Pro) c.-23-100A>C (n.-23-100A>C) | gnomAD v4 |
| 14 | g.94383102T= | CA2155954940 | SERPINA1 | c.136A= (p.Thr46=) c.-23-100A= (n.-23-100A=) | |
| 14 | g.94383103T>A | CA487841300 | SERPINA1 | c.135A>T (p.Pro45=) c.-23-101A>T (n.-23-101A>T) | |
| 14 | g.94383103T>C | CA487841301 | SERPINA1 | c.135A>G (p.Pro45=) c.-23-101A>G (n.-23-101A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383103T>G | CA487841302 | SERPINA1 | c.135A>C (p.Pro45=) c.-23-101A>C (n.-23-101A>C) | ClinVar dbSNP |
| 14 | g.94383103T= | CA2155954941 | SERPINA1 | c.135A= (p.Pro45=) c.-23-101A= (n.-23-101A=) | |
| 14 | g.94383104G>A | CA7327538 | SERPINA1 | c.134C>T (p.Pro45Leu) c.-23-102C>T (n.-23-102C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383104G>C | CA390850710 | SERPINA1 | c.134C>G (p.Pro45Arg) c.-23-102C>G (n.-23-102C>G) | |
| 14 | g.94383104G= | CA2155954942 | SERPINA1 | c.134C= (p.Pro45=) c.-23-102C= (n.-23-102C=) | |
| 14 | g.94383104G>T | CA390850711 | SERPINA1 | c.134C>A (p.Pro45Gln) c.-23-102C>A (n.-23-102C>A) | |
| 14 | g.94383105G>A | CA390850714 | SERPINA1 | c.133C>T (p.Pro45Ser) c.-23-103C>T (n.-23-103C>T) | gnomAD v4 |
| 14 | g.94383105G>C | CA390850713 | SERPINA1 | c.133C>G (p.Pro45Ala) c.-23-103C>G (n.-23-103C>G) | |
| 14 | g.94383105G= | CA2155954943 | SERPINA1 | c.133C= (p.Pro45=) c.-23-103C= (n.-23-103C=) | |
| 14 | g.94383105G>T | CA390850712 | SERPINA1 | c.133C>A (p.Pro45Thr) c.-23-103C>A (n.-23-103C>A) | dbSNP |
| 14 | g.94383106G>A | CA487841307 | SERPINA1 | c.132C>T (p.His44=) c.-23-104C>T (n.-23-104C>T) | |
| 14 | g.94383106G>C | CA390850715 | SERPINA1 | c.132C>G (p.His44Gln) c.-23-104C>G (n.-23-104C>G) | |
| 14 | g.94383106G= | CA2155954944 | SERPINA1 | c.132C= (p.His44=) c.-23-104C= (n.-23-104C=) | |
| 14 | g.94383106G>T | CA390850716 | SERPINA1 | c.132C>A (p.His44Gln) c.-23-104C>A (n.-23-104C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94383107T>A | CA390850717 | SERPINA1 | c.131A>T (p.His44Leu) c.-23-105A>T (n.-23-105A>T) | |
| 14 | g.94383107T>C | CA390850719 | SERPINA1 | c.131A>G (p.His44Arg) c.-23-105A>G (n.-23-105A>G) | |
| 14 | g.94383107T>G | CA390850718 | SERPINA1 | c.131A>C (p.His44Pro) c.-23-105A>C (n.-23-105A>C) | gnomAD v4 |
| 14 | g.94383108G>A | CA390850720 | SERPINA1 | c.130C>T (p.His44Tyr) c.-23-106C>T (n.-23-106C>T) | gnomAD v4 |
| 14 | g.94383108G>C | CA390850721 | SERPINA1 | c.130C>G (p.His44Asp) c.-23-106C>G (n.-23-106C>G) | |
| 14 | g.94383108G>T | CA390850722 | SERPINA1 | c.130C>A (p.His44Asn) c.-23-106C>A (n.-23-106C>A) |