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.94380983G>A | CA487841006 | SERPINA1 | c.805C>T (p.Leu269=) | ClinVar dbSNP |
| 14 | g.94380983G>C | CA390848577 | SERPINA1 | c.805C>G (p.Leu269Val) | |
| 14 | g.94380983G>T | CA390848579 | SERPINA1 | c.805C>A (p.Leu269Met) | |
| 14 | g.94380984G>A | CA487841007 | SERPINA1 | c.804C>T (p.Tyr268=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94380984G>C | CA390848580 | SERPINA1 | c.804C>G (p.Tyr268Ter) | |
| 14 | g.94380984G= | CA2155953890 | SERPINA1 | c.804C= (p.Tyr268=) | |
| 14 | g.94380984G>T | CA390848582 | SERPINA1 | c.804C>A (p.Tyr268Ter) | |
| 14 | g.94380985T>A | CA390848584 | SERPINA1 | c.803A>T (p.Tyr268Phe) | COSMIC |
| 14 | g.94380985T>C | CA390848585 | SERPINA1 | c.803A>G (p.Tyr268Cys) | |
| 14 | g.94380985T>G | CA390848583 | SERPINA1 | c.803A>C (p.Tyr268Ser) | |
| 14 | g.94380986A>C | CA390848586 | SERPINA1 | c.802T>G (p.Tyr268Asp) | |
| 14 | g.94380986A>G | CA390848587 | SERPINA1 | c.802T>C (p.Tyr268His) | |
| 14 | g.94380986A>T | CA390848588 | SERPINA1 | c.802T>A (p.Tyr268Asn) | |
| 14 | g.94380987T>A | CA390848590 | SERPINA1 | c.801A>T (p.Lys267Asn) | |
| 14 | g.94380987T>C | CA487841008 | SERPINA1 | c.801A>G (p.Lys267=) | gnomAD v4 |
| 14 | g.94380987T>G | CA390848591 | SERPINA1 | c.801A>C (p.Lys267Asn) | dbSNP |
| 14 | g.94380987T= | CA2155953891 | SERPINA1 | c.801A= (p.Lys267=) | |
| 14 | g.94380988T>A | CA390848593 | SERPINA1 | c.800A>T (p.Lys267Ile) | |
| 14 | g.94380988T>C | CA390848594 | SERPINA1 | c.800A>G (p.Lys267Arg) | COSMIC |
| 14 | g.94380988T>G | CA390848596 | SERPINA1 | c.800A>C (p.Lys267Thr) | |
| 14 | g.94380989T>A | CA390848597 | SERPINA1 | c.799A>T (p.Lys267Ter) | |
| 14 | g.94380989T>C | CA390848598 | SERPINA1 | c.799A>G (p.Lys267Glu) | |
| 14 | g.94380989T>G | CA390848599 | SERPINA1 | c.799A>C (p.Lys267Gln) | gnomAD v4 |
| 14 | g.94380990C>A | CA390848601 | SERPINA1 | c.798G>T (p.Met266Ile) | |
| 14 | g.94380990C>G | CA390848602 | SERPINA1 | c.798G>C (p.Met266Ile) | |
| 14 | g.94380990C>T | CA390848600 | SERPINA1 | c.798G>A (p.Met266Ile) | |
| 14 | g.94380991A= | CA2155953892 | SERPINA1 | c.797T= (p.Met266=) | |
| 14 | g.94380991A>C | CA390848604 | SERPINA1 | c.797T>G (p.Met266Arg) | |
| 14 | g.94380991A>G | CA7327403 | SERPINA1 | c.797T>C (p.Met266Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94380991A>T | CA390848606 | SERPINA1 | c.797T>A (p.Met266Lys) | |
| 14 | g.94380992T>A | CA390848607 | SERPINA1 | c.796A>T (p.Met266Leu) | |
| 14 | g.94380992T>C | CA390848609 | SERPINA1 | c.796A>G (p.Met266Val) | |
| 14 | g.94380992T>G | CA390848611 | SERPINA1 | c.796A>C (p.Met266Leu) | |
| 14 | g.94380993C>A | CA487841011 | SERPINA1 | c.795G>T (p.Leu265=) | |
| 14 | g.94380993C= | CA2155953893 | SERPINA1 | c.795G= (p.Leu265=) | |
| 14 | g.94380993C>G | CA487841012 | SERPINA1 | c.795G>C (p.Leu265=) | |
| 14 | g.94380993C>T | CA7327404 | SERPINA1 | c.795G>A (p.Leu265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94380994A>C | CA390848613 | SERPINA1 | c.794T>G (p.Leu265Arg) | |
| 14 | g.94380994A>G | CA390848614 | SERPINA1 | c.794T>C (p.Leu265Pro) | |
| 14 | g.94380994A>T | CA390848616 | SERPINA1 | c.794T>A (p.Leu265Gln) | |
| 14 | g.94380995G>A | CA7327405 | SERPINA1 | c.793C>T (p.Leu265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94380995G>C | CA390848618 | SERPINA1 | c.793C>G (p.Leu265Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94380995G= | CA2155953894 | SERPINA1 | c.793C= (p.Leu265=) | |
| 14 | g.94380995G>T | CA390848620 | SERPINA1 | c.793C>A (p.Leu265Met) | |
| 14 | g.94380996C>A | CA487841014 | SERPINA1 | c.792G>T (p.Leu264=) | |
| 14 | g.94380996C= | CA2155953895 | SERPINA1 | c.792G= (p.Leu264=) | |
| 14 | g.94380996C>G | CA487841015 | SERPINA1 | c.792G>C (p.Leu264=) | |
| 14 | g.94380996C>T | CA487841017 | SERPINA1 | c.792G>A (p.Leu264=) | ClinVar dbSNP gnomAD v2 |
| 14 | g.94380997A>C | CA390848625 | SERPINA1 | c.791T>G (p.Leu264Arg) | |
| 14 | g.94380997A>G | CA390848623 | SERPINA1 | c.791T>C (p.Leu264Pro) | |
| 14 | g.94380997A>T | CA390848622 | SERPINA1 | c.791T>A (p.Leu264Gln) | |
| 14 | g.94380998G>A | CA487841018 | SERPINA1 | c.790C>T (p.Leu264=) | |
| 14 | g.94380998G>C | CA390848627 | SERPINA1 | c.790C>G (p.Leu264Val) | |
| 14 | g.94380998G>T | CA390848629 | SERPINA1 | c.790C>A (p.Leu264Met) | |
| 14 | g.94380999C>A | CA487841019 | SERPINA1 | c.789G>T (p.Val263=) | |
| 14 | g.94380999C>G | CA487841020 | SERPINA1 | c.789G>C (p.Val263=) | |
| 14 | g.94380999C>T | CA487841021 | SERPINA1 | c.789G>A (p.Val263=) | |
| 14 | g.94381000A>C | CA390848630 | SERPINA1 | c.788T>G (p.Val263Gly) | |
| 14 | g.94381000A>G | CA390848632 | SERPINA1 | c.788T>C (p.Val263Ala) | |
| 14 | g.94381000A>T | CA390848634 | SERPINA1 | c.788T>A (p.Val263Glu) | |
| 14 | g.94381000_94381001delinsAC | CA2155953896 | SERPINA1 | c.787_788delinsGT (p.Val263=) | |
| 14 | g.94381001C>A | CA390848636 | SERPINA1 | c.787G>T (p.Val263Leu) | |
| 14 | g.94381001C>G | CA390848637 | SERPINA1 | c.787G>C (p.Val263Leu) | |
| 14 | g.94381001C>T | CA390848638 | SERPINA1 | c.787G>A (p.Val263Met) | |
| 14 | g.94381003del | CA616114856 | SERPINA1 | c.787del (p.Val263CysfsTer3) | ClinVar dbSNP gnomAD v2 |
| 14 | g.94381002C>A | CA390848640 | SERPINA1 | c.786G>T (p.Trp262Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94381002C= | CA2155953897 | SERPINA1 | c.786G= (p.Trp262=) | |
| 14 | g.94381002C>G | CA390848642 | SERPINA1 | c.786G>C (p.Trp262Cys) | |
| 14 | g.94381002C>T | CA390848644 | SERPINA1 | c.786G>A (p.Trp262Ter) | |
| 14 | g.94381003C>A | CA390848645 | SERPINA1 | c.785G>T (p.Trp262Leu) | gnomAD v4 |
| 14 | g.94381003C>G | CA390848647 | SERPINA1 | c.785G>C (p.Trp262Ser) | |
| 14 | g.94381003C>T | CA390848648 | SERPINA1 | c.785G>A (p.Trp262Ter) | |
| 14 | g.94381004A>C | CA390848653 | SERPINA1 | c.784T>G (p.Trp262Gly) | |
| 14 | g.94381004A>G | CA390848650 | SERPINA1 | c.784T>C (p.Trp262Arg) | |
| 14 | g.94381004A>T | CA390848651 | SERPINA1 | c.784T>A (p.Trp262Arg) | |
| 14 | g.94381005G>A | CA487841025 | SERPINA1 | c.783C>T (p.Ser261=) | |
| 14 | g.94381005G>C | CA390848655 | SERPINA1 | c.783C>G (p.Ser261Arg) | |
| 14 | g.94381005G>T | CA390848657 | SERPINA1 | c.783C>A (p.Ser261Arg) | |
| 14 | g.94381006C>A | CA7327406 | SERPINA1 | c.782G>T (p.Ser261Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94381006C= | CA2155953898 | SERPINA1 | c.782G= (p.Ser261=) | |
| 14 | g.94381006C>G | CA390848658 | SERPINA1 | c.782G>C (p.Ser261Thr) | gnomAD v4 |
| 14 | g.94381006C>T | CA390848660 | SERPINA1 | c.782G>A (p.Ser261Asn) | |
| 14 | g.94381007T>A | CA390848662 | SERPINA1 | c.781A>T (p.Ser261Cys) | |
| 14 | g.94381007T>C | CA390848663 | SERPINA1 | c.781A>G (p.Ser261Gly) | |
| 14 | g.94381007T>G | CA390848665 | SERPINA1 | c.781A>C (p.Ser261Arg) | gnomAD v4 |
| 14 | g.94381008G>A | CA487841029 | SERPINA1 | c.780C>T (p.Ser260=) | dbSNP |
| 14 | g.94381008G>C | CA487841028 | SERPINA1 | c.780C>G (p.Ser260=) | |
| 14 | g.94381008G= | CA2155953899 | SERPINA1 | c.780C= (p.Ser260=) | |
| 14 | g.94381008G>T | CA487841027 | SERPINA1 | c.780C>A (p.Ser260=) | |
| 14 | g.94381009G>A | CA390848667 | SERPINA1 | c.779C>T (p.Ser260Phe) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94381009G>C | CA390848669 | SERPINA1 | c.779C>G (p.Ser260Cys) | |
| 14 | g.94381009G= | CA2155953900 | SERPINA1 | c.779C= (p.Ser260=) | |
| 14 | g.94381009G>T | CA390848670 | SERPINA1 | c.779C>A (p.Ser260Tyr) | |
| 14 | g.94381010A>C | CA390848675 | SERPINA1 | c.778T>G (p.Ser260Ala) | |
| 14 | g.94381010A>G | CA390848674 | SERPINA1 | c.778T>C (p.Ser260Pro) | |
| 14 | g.94381010A>T | CA390848672 | SERPINA1 | c.778T>A (p.Ser260Thr) | |
| 14 | g.94381011C>A | CA487841031 | SERPINA1 | c.777G>T (p.Leu259=) | gnomAD v4 |
| 14 | g.94381011C= | CA2155953901 | SERPINA1 | c.777G= (p.Leu259=) | |
| 14 | g.94381011C>G | CA487841033 | SERPINA1 | c.777G>C (p.Leu259=) | dbSNP |
| 14 | g.94381011C>T | CA487841032 | SERPINA1 | c.777G>A (p.Leu259=) | |
| 14 | g.94381012A>C | CA390848676 | SERPINA1 | c.776T>G (p.Leu259Arg) | |
| 14 | g.94381012A>G | CA390848678 | SERPINA1 | c.776T>C (p.Leu259Pro) | |
| 14 | g.94381012A>T | CA390848680 | SERPINA1 | c.776T>A (p.Leu259Gln) | |
| 14 | g.94381013G>A | CA487841035 | SERPINA1 | c.775C>T (p.Leu259=) | |
| 14 | g.94381013G>C | CA390848682 | SERPINA1 | c.775C>G (p.Leu259Val) | |
| 14 | g.94381013G>T | CA390848683 | SERPINA1 | c.775C>A (p.Leu259Met) | |
| 14 | g.94381014C>A | CA390848684 | SERPINA1 | c.774G>T (p.Lys258Asn) | |
| 14 | g.94381014C= | CA2155953902 | SERPINA1 | c.774G= (p.Lys258=) | |
| 14 | g.94381014C>G | CA390848686 | SERPINA1 | c.774G>C (p.Lys258Asn) | |
| 14 | g.94381014C>T | CA177905 | SERPINA1 | c.774G>A (p.Lys258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381015T>A | CA390848689 | SERPINA1 | c.773A>T (p.Lys258Met) | |
| 14 | g.94381015T>C | CA390848690 | SERPINA1 | c.773A>G (p.Lys258Arg) | |
| 14 | g.94381015T>G | CA390848692 | SERPINA1 | c.773A>C (p.Lys258Thr) | |
| 14 | g.94381016T>A | CA390848693 | SERPINA1 | c.772A>T (p.Lys258Ter) | |
| 14 | g.94381016T>C | CA390848694 | SERPINA1 | c.772A>G (p.Lys258Glu) | |
| 14 | g.94381016T>G | CA390848696 | SERPINA1 | c.772A>C (p.Lys258Gln) | |
| 14 | g.94381017C>A | CA7327407 | SERPINA1 | c.771G>T (p.Lys257Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381017C= | CA2155953903 | SERPINA1 | c.771G= (p.Lys257=) | |
| 14 | g.94381017C>G | CA390848698 | SERPINA1 | c.771G>C (p.Lys257Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94381017C>T | CA487841037 | SERPINA1 | c.771G>A (p.Lys257=) | ClinVar |
| 14 | g.94381018T>A | CA390848700 | SERPINA1 | c.770A>T (p.Lys257Met) | |
| 14 | g.94381018T>C | CA390848701 | SERPINA1 | c.770A>G (p.Lys257Arg) | |
| 14 | g.94381018T>G | CA390848703 | SERPINA1 | c.770A>C (p.Lys257Thr) | |
| 14 | g.94381019T>A | CA390848704 | SERPINA1 | c.769A>T (p.Lys257Ter) | |
| 14 | g.94381019T>C | CA265863766 | SERPINA1 | c.769A>G (p.Lys257Glu) | dbSNP |
| 14 | g.94381019T>G | CA390848707 | SERPINA1 | c.769A>C (p.Lys257Gln) | |
| 14 | g.94381019T= | CA2155953904 | SERPINA1 | c.769A= (p.Lys257=) | |
| 14 | g.94381020A= | CA2155953905 | SERPINA1 | c.768T= (p.Cys256=) | |
| 14 | g.94381020A>C | CA265863768 | SERPINA1 | c.768T>G (p.Cys256Trp) | dbSNP |
| 14 | g.94381020A>G | CA487841039 | SERPINA1 | c.768T>C (p.Cys256=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94381020A>T | CA390848708 | SERPINA1 | c.768T>A (p.Cys256Ter) | |
| 14 | g.94381021C>A | CA390848709 | SERPINA1 | c.767G>T (p.Cys256Phe) | |
| 14 | g.94381021C= | CA2155953906 | SERPINA1 | c.767G= (p.Cys256=) | |
| 14 | g.94381021C>G | CA390848710 | SERPINA1 | c.767G>C (p.Cys256Ser) | |
| 14 | g.94381021C>T | CA390848712 | SERPINA1 | c.767G>A (p.Cys256Tyr) | dbSNP gnomAD v4 |
| 14 | g.94381022A>C | CA390848717 | SERPINA1 | c.766T>G (p.Cys256Gly) | |
| 14 | g.94381022A>G | CA390848716 | SERPINA1 | c.766T>C (p.Cys256Arg) | |
| 14 | g.94381022A>T | CA390848714 | SERPINA1 | c.766T>A (p.Cys256Ser) | |
| 14 | g.94381023G>A | CA487841041 | SERPINA1 | c.765C>T (p.His255=) | |
| 14 | g.94381023G>C | CA390848719 | SERPINA1 | c.765C>G (p.His255Gln) | |
| 14 | g.94381023G>T | CA390848721 | SERPINA1 | c.765C>A (p.His255Gln) | |
| 14 | g.94381024T>A | CA390848723 | SERPINA1 | c.764A>T (p.His255Leu) | |
| 14 | g.94381024T>C | CA390848727 | SERPINA1 | c.764A>G (p.His255Arg) | |
| 14 | g.94381024T>G | CA390848725 | SERPINA1 | c.764A>C (p.His255Pro) | |
| 14 | g.94381025G>A | CA390848728 | SERPINA1 | c.763C>T (p.His255Tyr) | |
| 14 | g.94381025G>C | CA390848732 | SERPINA1 | c.763C>G (p.His255Asp) | |
| 14 | g.94381025G>T | CA390848730 | SERPINA1 | c.763C>A (p.His255Asn) | |
| 14 | g.94381026C>A | CA390848734 | SERPINA1 | c.762G>T (p.Gln254His) | |
| 14 | g.94381026C= | CA2155953907 | SERPINA1 | c.762G= (p.Gln254=) | |
| 14 | g.94381026C>G | CA265863770 | SERPINA1 | c.762G>C (p.Gln254His) | dbSNP COSMIC |
| 14 | g.94381026C>T | CA7327408 | SERPINA1 | c.762G>A (p.Gln254=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381027T>A | CA390848737 | SERPINA1 | c.761A>T (p.Gln254Leu) | |
| 14 | g.94381027T>C | CA390848738 | SERPINA1 | c.761A>G (p.Gln254Arg) | ClinVar dbSNP |
| 14 | g.94381027T>G | CA390848740 | SERPINA1 | c.761A>C (p.Gln254Pro) | |
| 14 | g.94381027T= | CA2155953908 | SERPINA1 | c.761A= (p.Gln254=) | |
| 14 | g.94381028G>A | CA265863771 | SERPINA1 | c.760C>T (p.Gln254Ter) | dbSNP |
| 14 | g.94381028G>C | CA390848742 | SERPINA1 | c.760C>G (p.Gln254Glu) | |
| 14 | g.94381028G= | CA2155953909 | SERPINA1 | c.760C= (p.Gln254=) | |
| 14 | g.94381028G>T | CA390848744 | SERPINA1 | c.760C>A (p.Gln254Lys) | |
| 14 | g.94381029G>A | CA7327409 | SERPINA1 | c.759C>T (p.Ile253=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94381029G>C | CA390848746 | SERPINA1 | c.759C>G (p.Ile253Met) | |
| 14 | g.94381029G= | CA2155953910 | SERPINA1 | c.759C= (p.Ile253=) | |
| 14 | g.94381029G>T | CA487841048 | SERPINA1 | c.759C>A (p.Ile253=) | |
| 14 | g.94381030A>C | CA390848751 | SERPINA1 | c.758T>G (p.Ile253Ser) | |
| 14 | g.94381030A>G | CA390848748 | SERPINA1 | c.758T>C (p.Ile253Thr) | |
| 14 | g.94381030A>T | CA390848749 | SERPINA1 | c.758T>A (p.Ile253Asn) | |
| 14 | g.94381031T>A | CA390848752 | SERPINA1 | c.757A>T (p.Ile253Phe) | |
| 14 | g.94381031T>C | CA390848753 | SERPINA1 | c.757A>G (p.Ile253Val) | |
| 14 | g.94381031T>G | CA7327410 | SERPINA1 | c.757A>C (p.Ile253Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381031T= | CA2155953911 | SERPINA1 | c.757A= (p.Ile253=) | |
| 14 | g.94381032G>A | CA487841050 | SERPINA1 | c.756C>T (p.Asn252=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94381032G>C | CA390848756 | SERPINA1 | c.756C>G (p.Asn252Lys) | |
| 14 | g.94381032G= | CA2155953912 | SERPINA1 | c.756C= (p.Asn252=) | |
| 14 | g.94381032G>T | CA390848757 | SERPINA1 | c.756C>A (p.Asn252Lys) | |
| 14 | g.94381033T>A | CA390848759 | SERPINA1 | c.755A>T (p.Asn252Ile) | |
| 14 | g.94381033T>C | CA390848761 | SERPINA1 | c.755A>G (p.Asn252Ser) | |
| 14 | g.94381033T>G | CA390848763 | SERPINA1 | c.755A>C (p.Asn252Thr) | |
| 14 | g.94381034T>A | CA7327411 | SERPINA1 | c.754A>T (p.Asn252Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94381034T>C | CA390848765 | SERPINA1 | c.754A>G (p.Asn252Asp) | dbSNP |
| 14 | g.94381034T>G | CA390848766 | SERPINA1 | c.754A>C (p.Asn252His) | |
| 14 | g.94381034T= | CA2155953913 | SERPINA1 | c.754A= (p.Asn252=) | |
| 14 | g.94381035A>C | CA390848767 | SERPINA1 | c.753T>G (p.Phe251Leu) | gnomAD v4 |
| 14 | g.94381035A>G | CA487841054 | SERPINA1 | c.753T>C (p.Phe251=) | |
| 14 | g.94381035A>T | CA390848769 | SERPINA1 | c.753T>A (p.Phe251Leu) | |
| 14 | g.94381036A= | CA2155953914 | SERPINA1 | c.752T= (p.Phe251=) | |
| 14 | g.94381036A>C | CA7327412 | SERPINA1 | c.752T>G (p.Phe251Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381036A>G | CA390848771 | SERPINA1 | c.752T>C (p.Phe251Ser) | |
| 14 | g.94381036A>T | CA390848773 | SERPINA1 | c.752T>A (p.Phe251Tyr) | COSMIC |
| 14 | g.94381037A= | CA2155953915 | SERPINA1 | c.751T= (p.Phe251=) | |
| 14 | g.94381037A>C | CA390848774 | SERPINA1 | c.751T>G (p.Phe251Val) | |
| 14 | g.94381037A>G | CA390848776 | SERPINA1 | c.751T>C (p.Phe251Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94381037A>T | CA390848778 | SERPINA1 | c.751T>A (p.Phe251Ile) | |
| 14 | g.94381038C>A | CA390848779 | SERPINA1 | c.750G>T (p.Met250Ile) | |
| 14 | g.94381038C>G | CA390848781 | SERPINA1 | c.750G>C (p.Met250Ile) | |
| 14 | g.94381038C>T | CA390848782 | SERPINA1 | c.750G>A (p.Met250Ile) | |
| 14 | g.94381039A= | CA2155953916 | SERPINA1 | c.749T= (p.Met250=) | |
| 14 | g.94381039A>C | CA390848784 | SERPINA1 | c.749T>G (p.Met250Arg) | |
| 14 | g.94381039A>G | CA390848786 | SERPINA1 | c.749T>C (p.Met250Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94381039A>T | CA390848788 | SERPINA1 | c.749T>A (p.Met250Lys) | |
| 14 | g.94381040T>A | CA390848791 | SERPINA1 | c.748A>T (p.Met250Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94381040T>C | CA7327413 | SERPINA1 | c.748A>G (p.Met250Val) | dbSNP ExAC |
| 14 | g.94381040T>G | CA390848790 | SERPINA1 | c.748A>C (p.Met250Leu) | dbSNP gnomAD v4 |
| 14 | g.94381040T= | CA2155953917 | SERPINA1 | c.748A= (p.Met250=) | |
| 14 | g.94381041G>A | CA7327414 | SERPINA1 | c.747C>T (p.Gly249=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94381041G>C | CA487841059 | SERPINA1 | c.747C>G (p.Gly249=) | ClinVar dbSNP |
| 14 | g.94381041G= | CA2155953918 | SERPINA1 | c.747C= (p.Gly249=) | |
| 14 | g.94381041G>T | CA487841060 | SERPINA1 | c.747C>A (p.Gly249=) | |
| 14 | g.94381042C>A | CA390848794 | SERPINA1 | c.746G>T (p.Gly249Val) | |
| 14 | g.94381042C= | CA2155953919 | SERPINA1 | c.746G= (p.Gly249=) | |
| 14 | g.94381042C>G | CA7327415 | SERPINA1 | c.746G>C (p.Gly249Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381042C>T | CA390848796 | SERPINA1 | c.746G>A (p.Gly249Asp) | |
| 14 | g.94381043C>A | CA390848797 | SERPINA1 | c.745G>T (p.Gly249Cys) | |
| 14 | g.94381043C= | CA2155953920 | SERPINA1 | c.745G= (p.Gly249=) | |
| 14 | g.94381043C>G | CA274265 | SERPINA1 | c.745G>C (p.Gly249Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381043C>T | CA390848799 | SERPINA1 | c.745G>A (p.Gly249Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94381044T>A | CA390848801 | SERPINA1 | c.744A>T (p.Leu248Phe) | |
| 14 | g.94381044T>C | CA487841064 | SERPINA1 | c.744A>G (p.Leu248=) | |
| 14 | g.94381044T>G | CA390848803 | SERPINA1 | c.744A>C (p.Leu248Phe) | |
| 14 | g.94381045A>C | CA390848804 | SERPINA1 | c.743T>G (p.Leu248Ter) | |
| 14 | g.94381045A>G | CA390848805 | SERPINA1 | c.743T>C (p.Leu248Ser) | |
| 14 | g.94381045A>T | CA390848807 | SERPINA1 | c.743T>A (p.Leu248Ter) | |
| 14 | g.94381046A>C | CA390848808 | SERPINA1 | c.742T>G (p.Leu248Val) | |
| 14 | g.94381046A>G | CA487841065 | SERPINA1 | c.742T>C (p.Leu248=) | ClinVar dbSNP |
| 14 | g.94381046A>T | CA390848810 | SERPINA1 | c.742T>A (p.Leu248Ile) | |
| 14 | g.94381047A>C | CA487841066 | SERPINA1 | c.741T>G (p.Arg247=) | |
| 14 | g.94381047A>G | CA487841067 | SERPINA1 | c.741T>C (p.Arg247=) | |
| 14 | g.94381047A>T | CA487841069 | SERPINA1 | c.741T>A (p.Arg247=) | |
| 14 | g.94381048C>A | CA390848811 | SERPINA1 | c.740G>T (p.Arg247Leu) | dbSNP gnomAD v4 |
| 14 | g.94381048C= | CA2155953921 | SERPINA1 | c.740G= (p.Arg247=) | |
| 14 | g.94381048C>G | CA390848813 | SERPINA1 | c.740G>C (p.Arg247Pro) | gnomAD v4 |
| 14 | g.94381048C>T | CA7327416 | SERPINA1 | c.740G>A (p.Arg247His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.94381049G>A | CA325638 | SERPINA1 | c.739C>T (p.Arg247Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.[94381049G>A;94383051G>A] | CA353866 | SERPINA1 | c.[187C>T;739C>T] (p.[Arg63Cys;Arg247Cys]) | ClinVar |
| 14 | g.94381049G>C | CA390848816 | SERPINA1 | c.739C>G (p.Arg247Gly) | |
| 14 | g.94381049G= | CA2155953922 | SERPINA1 | c.739C= (p.Arg247=) | |
| 14 | g.94381049G>T | CA265863778 | SERPINA1 | c.739C>A (p.Arg247Ser) | dbSNP gnomAD v4 |
| 14 | g.94381050C>A | CA390848820 | SERPINA1 | c.738G>T (p.Lys246Asn) | |
| 14 | g.94381050C>G | CA390848818 | SERPINA1 | c.738G>C (p.Lys246Asn) | |
| 14 | g.94381050C>T | CA487841072 | SERPINA1 | c.738G>A (p.Lys246=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94381051T>A | CA390848821 | SERPINA1 | c.737A>T (p.Lys246Met) | |
| 14 | g.94381051T>C | CA390848823 | SERPINA1 | c.737A>G (p.Lys246Arg) | |
| 14 | g.94381051T>G | CA348668 | SERPINA1 | c.737A>C (p.Lys246Thr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.94381051T= | CA2155953923 | SERPINA1 | c.737A= (p.Lys246=) | |
| 14 | g.94381052T>A | CA390848825 | SERPINA1 | c.736A>T (p.Lys246Ter) | |
| 14 | g.94381052T>C | CA390848827 | SERPINA1 | c.736A>G (p.Lys246Glu) | dbSNP |
| 14 | g.94381052T>G | CA390848829 | SERPINA1 | c.736A>C (p.Lys246Gln) | |
| 14 | g.94381052T= | CA2155953924 | SERPINA1 | c.736A= (p.Lys246=) | |
| 14 | g.94381053C>A | CA390848832 | SERPINA1 | c.735G>T (p.Met245Ile) | |
| 14 | g.94381053C= | CA2155953925 | SERPINA1 | c.735G= (p.Met245=) | |
| 14 | g.94381053C>G | CA390848830 | SERPINA1 | c.735G>C (p.Met245Ile) | |
| 14 | g.94381053C>T | CA350589 | SERPINA1 | c.735G>A (p.Met245Ile) | ClinVar dbSNP COSMIC |
| 14 | g.94381054A= | CA2155953926 | SERPINA1 | c.734T= (p.Met245=) | |
| 14 | g.94381054A>C | CA390848834 | SERPINA1 | c.734T>G (p.Met245Arg) | |
| 14 | g.94381054A>G | CA7327417 | SERPINA1 | c.734T>C (p.Met245Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94381054A>T | CA390848835 | SERPINA1 | c.734T>A (p.Met245Lys) | |
| 14 | g.94381055T>A | CA390848837 | SERPINA1 | c.733A>T (p.Met245Leu) | |
| 14 | g.94381055T>C | CA390848838 | SERPINA1 | c.733A>G (p.Met245Val) | |
| 14 | g.94381055T>G | CA390848840 | SERPINA1 | c.733A>C (p.Met245Leu) | |
| 14 | g.94381056C>A | CA390848842 | SERPINA1 | c.732G>T (p.Met244Ile) | |
| 14 | g.94381056C>G | CA390848844 | SERPINA1 | c.732G>C (p.Met244Ile) | gnomAD v4 |
| 14 | g.94381056C>T | CA390848845 | SERPINA1 | c.732G>A (p.Met244Ile) | COSMIC |
| 14 | g.94381057A>C | CA390848847 | SERPINA1 | c.731T>G (p.Met244Arg) | |
| 14 | g.94381057A>G | CA390848849 | SERPINA1 | c.731T>C (p.Met244Thr) | |
| 14 | g.94381057A>T | CA390848851 | SERPINA1 | c.731T>A (p.Met244Lys) | |
| 14 | g.94381058T>A | CA390848852 | SERPINA1 | c.730A>T (p.Met244Leu) | |
| 14 | g.94381058T>C | CA390848856 | SERPINA1 | c.730A>G (p.Met244Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94381058T>G | CA390848854 | SERPINA1 | c.730A>C (p.Met244Leu) | |
| 14 | g.94381058T= | CA2155953927 | SERPINA1 | c.730A= (p.Met244=) | |
| 14 | g.94381059A>C | CA487841076 | SERPINA1 | c.729T>G (p.Pro243=) | |
| 14 | g.94381059A>G | CA487841078 | SERPINA1 | c.729T>C (p.Pro243=) | |
| 14 | g.94381059A>T | CA487841079 | SERPINA1 | c.729T>A (p.Pro243=) | |
| 14 | g.94381060G>A | CA390848857 | SERPINA1 | c.728C>T (p.Pro243Leu) | |
| 14 | g.94381060G>C | CA390848859 | SERPINA1 | c.728C>G (p.Pro243Arg) | |
| 14 | g.94381060G>T | CA390848861 | SERPINA1 | c.728C>A (p.Pro243His) | |
| 14 | g.94381061G>A | CA390848863 | SERPINA1 | c.727C>T (p.Pro243Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94381061G>C | CA390848864 | SERPINA1 | c.727C>G (p.Pro243Ala) | |
| 14 | g.94381061G= | CA2155953928 | SERPINA1 | c.727C= (p.Pro243=) | |
| 14 | g.94381061G>T | CA390848866 | SERPINA1 | c.727C>A (p.Pro243Thr) | |
| 14 | g.94381062C>A | CA487841080 | SERPINA1 | c.726G>T (p.Val242=) | ClinVar dbSNP |
| 14 | g.94381062C= | CA2155953929 | SERPINA1 | c.726G= (p.Val242=) | |
| 14 | g.94381062C>G | CA487841082 | SERPINA1 | c.726G>C (p.Val242=) | |
| 14 | g.94381062C>T | CA487841084 | SERPINA1 | c.726G>A (p.Val242=) | |
| 14 | g.94381063A= | CA2155953930 | SERPINA1 | c.725T= (p.Val242=) | |
| 14 | g.94381063A>C | CA390848868 | SERPINA1 | c.725T>G (p.Val242Gly) | |
| 14 | g.94381063A>G | CA7327418 | SERPINA1 | c.725T>C (p.Val242Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381063A>T | CA390848870 | SERPINA1 | c.725T>A (p.Val242Glu) | |
| 14 | g.94381064C>A | CA390848871 | SERPINA1 | c.724G>T (p.Val242Leu) | |
| 14 | g.94381064C>G | CA390848872 | SERPINA1 | c.724G>C (p.Val242Leu) | |
| 14 | g.94381064C>T | CA390848873 | SERPINA1 | c.724G>A (p.Val242Met) | |
| 14 | g.94381065C>A | CA390848875 | SERPINA1 | c.723G>T (p.Lys241Asn) | |
| 14 | g.94381065C= | CA2155953931 | SERPINA1 | c.723G= (p.Lys241=) | |
| 14 | g.94381065C>G | CA390848874 | SERPINA1 | c.723G>C (p.Lys241Asn) | |
| 14 | g.94381065C>T | CA487841088 | SERPINA1 | c.723G>A (p.Lys241=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.94381066T>A | CA390848878 | SERPINA1 | c.722A>T (p.Lys241Met) | |
| 14 | g.94381066T>C | CA390848879 | SERPINA1 | c.722A>G (p.Lys241Arg) | |
| 14 | g.94381066T>G | CA390848881 | SERPINA1 | c.722A>C (p.Lys241Thr) | |
| 14 | g.94381067T>A | CA127693 | SERPINA1 | c.721A>T (p.Lys241Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381067T>C | CA390848883 | SERPINA1 | c.721A>G (p.Lys241Glu) | |
| 14 | g.94381067T>G | CA390848884 | SERPINA1 | c.721A>C (p.Lys241Gln) | |
| 14 | g.94381067T= | CA2155953932 | SERPINA1 | c.721A= (p.Lys241=) | |
| 14 | g.94381068C>A | CA487841090 | SERPINA1 | c.720G>T (p.Val240=) | |
| 14 | g.94381068C>G | CA487841092 | SERPINA1 | c.720G>C (p.Val240=) | |
| 14 | g.94381068C>T | CA487841094 | SERPINA1 | c.720G>A (p.Val240=) | |
| 14 | g.94381069A= | CA2155953933 | SERPINA1 | c.719T= (p.Val240=) | |
| 14 | g.94381069A>C | CA390848886 | SERPINA1 | c.719T>G (p.Val240Gly) | COSMIC |
| 14 | g.94381069A>G | CA390848887 | SERPINA1 | c.719T>C (p.Val240Ala) | |
| 14 | g.94381069A>T | CA390848888 | SERPINA1 | c.719T>A (p.Val240Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381070C>A | CA390848890 | SERPINA1 | c.718G>T (p.Val240Leu) | dbSNP |
| 14 | g.94381070C= | CA2155953934 | SERPINA1 | c.718G= (p.Val240=) | |
| 14 | g.94381070C>G | CA390848892 | SERPINA1 | c.718G>C (p.Val240Leu) | dbSNP |
| 14 | g.94381070C>T | CA7327419 | SERPINA1 | c.718G>A (p.Val240Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381071G>A | CA7327420 | SERPINA1 | c.717C>T (p.Thr239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381071G>C | CA487841097 | SERPINA1 | c.717C>G (p.Thr239=) | |
| 14 | g.94381071G= | CA2155953935 | SERPINA1 | c.717C= (p.Thr239=) | |
| 14 | g.94381071G>T | CA487841098 | SERPINA1 | c.717C>A (p.Thr239=) | |
| 14 | g.94381072G>A | CA390848897 | SERPINA1 | c.716C>T (p.Thr239Ile) | |
| 14 | g.94381072G>C | CA390848898 | SERPINA1 | c.716C>G (p.Thr239Ser) | |
| 14 | g.94381072G= | CA2155953936 | SERPINA1 | c.716C= (p.Thr239=) | |
| 14 | g.94381072G>T | CA390848895 | SERPINA1 | c.716C>A (p.Thr239Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.94381073T>A | CA390848900 | SERPINA1 | c.715A>T (p.Thr239Ser) | |
| 14 | g.94381073T>C | CA390848901 | SERPINA1 | c.715A>G (p.Thr239Ala) | dbSNP gnomAD v2 |
| 14 | g.94381073T>G | CA390848903 | SERPINA1 | c.715A>C (p.Thr239Pro) | |
| 14 | g.94381073T= | CA2155953937 | SERPINA1 | c.715A= (p.Thr239=) | |
| 14 | g.94381073_94381074delinsTG | CA2155953938 | SERPINA1 | c.714_715delinsCA (p.Thr238=) | |
| 14 | g.94381074G>A | CA487841104 | SERPINA1 | c.714C>T (p.Thr238=) | ClinVar dbSNP |
| 14 | g.94381074G>C | CA487841103 | SERPINA1 | c.714C>G (p.Thr238=) | |
| 14 | g.94381074G>T | CA487841102 | SERPINA1 | c.714C>A (p.Thr238=) | |
| 14 | g.94381075del | CA16041709 | SERPINA1 | c.714del (p.Thr239ProfsTer2) | ClinVar dbSNP |
| 14 | g.94381075G>A | CA7327421 | SERPINA1 | c.713C>T (p.Thr238Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.94381075G>C | CA390848905 | SERPINA1 | c.713C>G (p.Thr238Ser) | |
| 14 | g.94381075G= | CA2155953939 | SERPINA1 | c.713C= (p.Thr238=) | |
| 14 | g.94381075G>T | CA390848907 | SERPINA1 | c.713C>A (p.Thr238Asn) | |
| 14 | g.94381076T>A | CA390848909 | SERPINA1 | c.712A>T (p.Thr238Ser) | |
| 14 | g.94381076T>C | CA390848912 | SERPINA1 | c.712A>G (p.Thr238Ala) | |
| 14 | g.94381076T>G | CA390848910 | SERPINA1 | c.712A>C (p.Thr238Pro) | |
| 14 | g.94381077C>A | CA487841106 | SERPINA1 | c.711G>T (p.Val237=) | gnomAD v4 |
| 14 | g.94381077C= | CA2155953940 | SERPINA1 | c.711G= (p.Val237=) | |
| 14 | g.94381077C>G | CA487841107 | SERPINA1 | c.711G>C (p.Val237=) | |
| 14 | g.94381077C>T | CA265863785 | SERPINA1 | c.711G>A (p.Val237=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381077_94381078insGCCGTATCATTAAAAA | CA966133842 | SERPINA1 | c.710_711insTTTTTAATGATACGGC (p.Thr238PhefsTer2) | gnomAD v3 gnomAD v4 |
| 14 | g.94381078A= | CA127619 | SERPINA1 | c.710T= (p.Val237=) | |
| 14 | g.94381078A>C | CA390848914 | SERPINA1 | c.710T>G (p.Val237Gly) | gnomAD v4 |
| 14 | g.94381078A>G | CA127617 | SERPINA1 | c.710T>C (p.Val237Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381078A>T | CA390848916 | SERPINA1 | c.710T>A (p.Val237Glu) | |
| 14 | g.94381079C>A | CA390848920 | SERPINA1 | c.709G>T (p.Val237Leu) | |
| 14 | g.94381079C>G | CA390848917 | SERPINA1 | c.709G>C (p.Val237Leu) | |
| 14 | g.94381079C>T | CA390848919 | SERPINA1 | c.709G>A (p.Val237Met) | gnomAD v4 |
| 14 | g.94381079_94381087delinsCCTGGTCCA | CA2155953941 | SERPINA1 | c.701_709delinsTGGACCAGG (p.Val234=) | |
| 14 | g.94381080C>A | CA390848922 | SERPINA1 | c.708G>T (p.Gln236His) | |
| 14 | g.94381080C>G | CA390848924 | SERPINA1 | c.708G>C (p.Gln236His) | |
| 14 | g.94381080C>T | CA487841109 | SERPINA1 | c.708G>A (p.Gln236=) | ClinVar |
| 14 | g.94381080_94381082delinsCTG | CA2155953942 | SERPINA1 | c.706_708delinsCAG (p.Gln236=) | |
| 14 | g.94381081_94381088del | CA616114857 | SERPINA1 | c.701_708del (p.Val234GlyfsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381081del | CA966133857 | SERPINA1 | c.707del (p.Gln236ArgfsTer2) | gnomAD v3 gnomAD v4 |
| 14 | g.94381081T>A | CA390848925 | SERPINA1 | c.707A>T (p.Gln236Leu) | |
| 14 | g.94381081T>C | CA350778 | SERPINA1 | c.707A>G (p.Gln236Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381081T>G | CA390848927 | SERPINA1 | c.707A>C (p.Gln236Pro) | gnomAD v3 gnomAD v4 |
| 14 | g.94381081T= | CA2155953943 | SERPINA1 | c.707A= (p.Gln236=) | |
| 14 | g.94381081_94381082del | CA616114858 | SERPINA1 | c.706_707del (p.Gln236GlyfsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381082G>A | CA390848929 | SERPINA1 | c.706C>T (p.Gln236Ter) | |
| 14 | g.94381082G>C | CA390848930 | SERPINA1 | c.706C>G (p.Gln236Glu) | |
| 14 | g.94381082G= | CA2155953944 | SERPINA1 | c.706C= (p.Gln236=) | |
| 14 | g.94381082G>T | CA7327422 | SERPINA1 | c.706C>A (p.Gln236Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.94381083G>A | CA487841111 | SERPINA1 | c.705C>T (p.Asp235=) | gnomAD v3 gnomAD v4 |
| 14 | g.94381083G>C | CA390848932 | SERPINA1 | c.705C>G (p.Asp235Glu) | |
| 14 | g.94381083G= | CA2155953945 | SERPINA1 | c.705C= (p.Asp235=) | |
| 14 | g.94381083G>T | CA7327423 | SERPINA1 | c.705C>A (p.Asp235Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |