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.94382953_94382954dup | CA2695219662 | SERPINA1 | c.286_287dup (p.His97LeufsTer9) c.28_29dup (p.His11LeufsTer9) | |
| 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=) | |
| 14 | g.94382998G>A | CA487841465 | SERPINA1 | c.240C>T (p.Ser80=) c.-19C>T (n.-19C>T) | dbSNP |
| 14 | g.94382998G>C | CA390850490 | SERPINA1 | c.240C>G (p.Ser80Arg) c.-19C>G (n.-19C>G) | |
| 14 | g.94382998G= | CA2155954881 | SERPINA1 | c.240C= (p.Ser80=) c.-19C= (n.-19C=) | |
| 14 | g.94382998G>T | CA390850491 | SERPINA1 | c.240C>A (p.Ser80Arg) c.-19C>A (n.-19C>A) | |
| 14 | g.94382999C>A | CA390850492 | SERPINA1 | c.239G>T (p.Ser80Ile) c.-20G>T (n.-20G>T) | |
| 14 | g.94382999C= | CA2155954882 | SERPINA1 | c.239G= (p.Ser80=) c.-20G= (n.-20G=) | |
| 14 | g.94382999C>G | CA390850493 | SERPINA1 | c.239G>C (p.Ser80Thr) c.-20G>C (n.-20G>C) | gnomAD v4 |
| 14 | g.94382999C>T | CA7327523 | SERPINA1 | c.239G>A (p.Ser80Asn) c.-20G>A (n.-20G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94383000T>A | CA390850494 | SERPINA1 | c.238A>T (p.Ser80Cys) c.-21A>T (n.-21A>T) | |
| 14 | g.94383000T>C | CA390850496 | SERPINA1 | c.238A>G (p.Ser80Gly) c.-21A>G (n.-21A>G) | |
| 14 | g.94383000T>G | CA390850495 | SERPINA1 | c.238A>C (p.Ser80Arg) c.-21A>C (n.-21A>C) | |
| 14 | g.94383001C>A | CA487841475 | SERPINA1 | c.237G>T (p.Val79=) c.-22G>T (n.-22G>T) | |
| 14 | g.94383001C>G | CA487841477 | SERPINA1 | c.237G>C (p.Val79=) c.-22G>C (n.-22G>C) | gnomAD v4 |
| 14 | g.94383001C>T | CA487841478 | SERPINA1 | c.237G>A (p.Val79=) c.-22G>A (n.-22G>A) | ClinVar gnomAD v4 |
| 14 | g.94383002A= | CA2155954883 | SERPINA1 | c.236T= (p.Val79=) c.-23T= (n.-23T=) | |
| 14 | g.94383002A>C | CA390850497 | SERPINA1 | c.236T>G (p.Val79Gly) c.-23T>G (n.-23T>G) | |
| 14 | g.94383002A>G | CA390850498 | SERPINA1 | c.236T>C (p.Val79Ala) c.-23T>C (n.-23T>C) | |
| 14 | g.94383002A>T | CA349078 | SERPINA1 | c.236T>A (p.Val79Glu) c.-23T>A (n.-23T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383003C>A | CA390850499 | SERPINA1 | c.235G>T (p.Val79Leu) c.-23-1G>T (n.-23-1G>T) | dbSNP gnomAD v4 |
| 14 | g.94383003C= | CA2155954884 | SERPINA1 | c.235G= (p.Val79=) c.-23-1G= (n.-23-1G=) | |
| 14 | g.94383003C>G | CA390850500 | SERPINA1 | c.235G>C (p.Val79Leu) c.-23-1G>C (n.-23-1G>C) | dbSNP gnomAD v4 |
| 14 | g.94383003C>T | CA390850501 | SERPINA1 | c.235G>A (p.Val79Met) c.-23-1G>A (n.-23-1G>A) | |
| 14 | g.94383004T>A | CA487841139 | SERPINA1 | c.234A>T (p.Pro78=) c.-23-2A>T (n.-23-2A>T) | |
| 14 | g.94383004T>C | CA487841141 | SERPINA1 | c.234A>G (p.Pro78=) c.-23-2A>G (n.-23-2A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94383004T>G | CA487841143 | SERPINA1 | c.234A>C (p.Pro78=) c.-23-2A>C (n.-23-2A>C) | |
| 14 | g.94383004T= | CA2155954885 | SERPINA1 | c.234A= (p.Pro78=) c.-23-2A= (n.-23-2A=) | |
| 14 | g.94383005G>A | CA390850502 | SERPINA1 | c.233C>T (p.Pro78Leu) c.-23-3C>T (n.-23-3C>T) | |
| 14 | g.94383005G>C | CA390850503 | SERPINA1 | c.233C>G (p.Pro78Arg) c.-23-3C>G (n.-23-3C>G) | |
| 14 | g.94383005G>T | CA390850504 | SERPINA1 | c.233C>A (p.Pro78Gln) c.-23-3C>A (n.-23-3C>A) | |
| 14 | g.94383006G>A | CA390850505 | SERPINA1 | c.232C>T (p.Pro78Ser) c.-23-4C>T (n.-23-4C>T) | |
| 14 | g.94383006G>C | CA390850506 | SERPINA1 | c.232C>G (p.Pro78Ala) c.-23-4C>G (n.-23-4C>G) | |
| 14 | g.94383006G>T | CA390850507 | SERPINA1 | c.232C>A (p.Pro78Thr) c.-23-4C>A (n.-23-4C>A) | |
| 14 | g.94383007G>A | CA7327524 | SERPINA1 | c.231C>T (p.Ser77=) c.-23-5C>T (n.-23-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94383007G>C | CA487841145 | SERPINA1 | c.231C>G (p.Ser77=) c.-23-5C>G (n.-23-5C>G) | |
| 14 | g.94383007G= | CA2155954886 | SERPINA1 | c.231C= (p.Ser77=) c.-23-5C= (n.-23-5C=) | |
| 14 | g.94383007G>T | CA487841147 | SERPINA1 | c.231C>A (p.Ser77=) c.-23-5C>A (n.-23-5C>A) | |
| 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) |