Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94381016T>ACA390848693SERPINA1c.772A>T (p.Lys258Ter)
14g.94381016T>CCA390848694SERPINA1c.772A>G (p.Lys258Glu)
14g.94381016T>GCA390848696SERPINA1c.772A>C (p.Lys258Gln)
14g.94381017C>ACA7327407SERPINA1c.771G>T (p.Lys257Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381017C=CA2155953903SERPINA1c.771G= (p.Lys257=)
14g.94381017C>GCA390848698SERPINA1c.771G>C (p.Lys257Asn)
dbSNP gnomAD v2 gnomAD v4
14g.94381017C>TCA487841037SERPINA1c.771G>A (p.Lys257=)
ClinVar
14g.94381018T>ACA390848700SERPINA1c.770A>T (p.Lys257Met)
14g.94381018T>CCA390848701SERPINA1c.770A>G (p.Lys257Arg)
14g.94381018T>GCA390848703SERPINA1c.770A>C (p.Lys257Thr)
14g.94381019T>ACA390848704SERPINA1c.769A>T (p.Lys257Ter)
14g.94381019T>CCA265863766SERPINA1c.769A>G (p.Lys257Glu)
dbSNP
14g.94381019T>GCA390848707SERPINA1c.769A>C (p.Lys257Gln)
14g.94381019T=CA2155953904SERPINA1c.769A= (p.Lys257=)
14g.94381020A=CA2155953905SERPINA1c.768T= (p.Cys256=)
14g.94381020A>CCA265863768SERPINA1c.768T>G (p.Cys256Trp)
dbSNP
14g.94381020A>GCA487841039SERPINA1c.768T>C (p.Cys256=)
ClinVar dbSNP gnomAD v3 gnomAD v4
14g.94381020A>TCA390848708SERPINA1c.768T>A (p.Cys256Ter)
14g.94381021C>ACA390848709SERPINA1c.767G>T (p.Cys256Phe)
14g.94381021C=CA2155953906SERPINA1c.767G= (p.Cys256=)
14g.94381021C>GCA390848710SERPINA1c.767G>C (p.Cys256Ser)
14g.94381021C>TCA390848712SERPINA1c.767G>A (p.Cys256Tyr)
dbSNP gnomAD v4
14g.94381022A>CCA390848717SERPINA1c.766T>G (p.Cys256Gly)
14g.94381022A>GCA390848716SERPINA1c.766T>C (p.Cys256Arg)
14g.94381022A>TCA390848714SERPINA1c.766T>A (p.Cys256Ser)
14g.94381023G>ACA487841041SERPINA1c.765C>T (p.His255=)
14g.94381023G>CCA390848719SERPINA1c.765C>G (p.His255Gln)
14g.94381023G>TCA390848721SERPINA1c.765C>A (p.His255Gln)
14g.94381024T>ACA390848723SERPINA1c.764A>T (p.His255Leu)
14g.94381024T>CCA390848727SERPINA1c.764A>G (p.His255Arg)
14g.94381024T>GCA390848725SERPINA1c.764A>C (p.His255Pro)
14g.94381025G>ACA390848728SERPINA1c.763C>T (p.His255Tyr)
14g.94381025G>CCA390848732SERPINA1c.763C>G (p.His255Asp)
14g.94381025G>TCA390848730SERPINA1c.763C>A (p.His255Asn)
14g.94381026C>ACA390848734SERPINA1c.762G>T (p.Gln254His)
14g.94381026C=CA2155953907SERPINA1c.762G= (p.Gln254=)
14g.94381026C>GCA265863770SERPINA1c.762G>C (p.Gln254His)
dbSNP COSMIC
14g.94381026C>TCA7327408SERPINA1c.762G>A (p.Gln254=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381027T>ACA390848737SERPINA1c.761A>T (p.Gln254Leu)
14g.94381027T>CCA390848738SERPINA1c.761A>G (p.Gln254Arg)
ClinVar dbSNP
14g.94381027T>GCA390848740SERPINA1c.761A>C (p.Gln254Pro)
14g.94381027T=CA2155953908SERPINA1c.761A= (p.Gln254=)
14g.94381028G>ACA265863771SERPINA1c.760C>T (p.Gln254Ter)
dbSNP
14g.94381028G>CCA390848742SERPINA1c.760C>G (p.Gln254Glu)
14g.94381028G=CA2155953909SERPINA1c.760C= (p.Gln254=)
14g.94381028G>TCA390848744SERPINA1c.760C>A (p.Gln254Lys)
14g.94381029G>ACA7327409SERPINA1c.759C>T (p.Ile253=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94381029G>CCA390848746SERPINA1c.759C>G (p.Ile253Met)
14g.94381029G=CA2155953910SERPINA1c.759C= (p.Ile253=)
14g.94381029G>TCA487841048SERPINA1c.759C>A (p.Ile253=)
14g.94381030A>CCA390848751SERPINA1c.758T>G (p.Ile253Ser)
14g.94381030A>GCA390848748SERPINA1c.758T>C (p.Ile253Thr)
14g.94381030A>TCA390848749SERPINA1c.758T>A (p.Ile253Asn)
14g.94381031T>ACA390848752SERPINA1c.757A>T (p.Ile253Phe)
14g.94381031T>CCA390848753SERPINA1c.757A>G (p.Ile253Val)
14g.94381031T>GCA7327410SERPINA1c.757A>C (p.Ile253Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381031T=CA2155953911SERPINA1c.757A= (p.Ile253=)
14g.94381032G>ACA487841050SERPINA1c.756C>T (p.Asn252=)
dbSNP gnomAD v2 gnomAD v4
14g.94381032G>CCA390848756SERPINA1c.756C>G (p.Asn252Lys)
14g.94381032G=CA2155953912SERPINA1c.756C= (p.Asn252=)
14g.94381032G>TCA390848757SERPINA1c.756C>A (p.Asn252Lys)
14g.94381033T>ACA390848759SERPINA1c.755A>T (p.Asn252Ile)
14g.94381033T>CCA390848761SERPINA1c.755A>G (p.Asn252Ser)
14g.94381033T>GCA390848763SERPINA1c.755A>C (p.Asn252Thr)
14g.94381034T>ACA7327411SERPINA1c.754A>T (p.Asn252Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94381034T>CCA390848765SERPINA1c.754A>G (p.Asn252Asp)
dbSNP
14g.94381034T>GCA390848766SERPINA1c.754A>C (p.Asn252His)
14g.94381034T=CA2155953913SERPINA1c.754A= (p.Asn252=)
14g.94381035A>CCA390848767SERPINA1c.753T>G (p.Phe251Leu)
gnomAD v4
14g.94381035A>GCA487841054SERPINA1c.753T>C (p.Phe251=)
14g.94381035A>TCA390848769SERPINA1c.753T>A (p.Phe251Leu)
14g.94381036A=CA2155953914SERPINA1c.752T= (p.Phe251=)
14g.94381036A>CCA7327412SERPINA1c.752T>G (p.Phe251Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381036A>GCA390848771SERPINA1c.752T>C (p.Phe251Ser)
14g.94381036A>TCA390848773SERPINA1c.752T>A (p.Phe251Tyr)
COSMIC
14g.94381037A=CA2155953915SERPINA1c.751T= (p.Phe251=)
14g.94381037A>CCA390848774SERPINA1c.751T>G (p.Phe251Val)
14g.94381037A>GCA390848776SERPINA1c.751T>C (p.Phe251Leu)
dbSNP gnomAD v3 gnomAD v4
14g.94381037A>TCA390848778SERPINA1c.751T>A (p.Phe251Ile)
14g.94381038C>ACA390848779SERPINA1c.750G>T (p.Met250Ile)
14g.94381038C>GCA390848781SERPINA1c.750G>C (p.Met250Ile)
14g.94381038C>TCA390848782SERPINA1c.750G>A (p.Met250Ile)
14g.94381039A=CA2155953916SERPINA1c.749T= (p.Met250=)
14g.94381039A>CCA390848784SERPINA1c.749T>G (p.Met250Arg)
14g.94381039A>GCA390848786SERPINA1c.749T>C (p.Met250Thr)
dbSNP gnomAD v2 gnomAD v4
14g.94381039A>TCA390848788SERPINA1c.749T>A (p.Met250Lys)
14g.94381040T>ACA390848791SERPINA1c.748A>T (p.Met250Leu)
dbSNP gnomAD v2 gnomAD v4
14g.94381040T>CCA7327413SERPINA1c.748A>G (p.Met250Val)
dbSNP ExAC
14g.94381040T>GCA390848790SERPINA1c.748A>C (p.Met250Leu)
dbSNP gnomAD v4
14g.94381040T=CA2155953917SERPINA1c.748A= (p.Met250=)
14g.94381041G>ACA7327414SERPINA1c.747C>T (p.Gly249=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94381041G>CCA487841059SERPINA1c.747C>G (p.Gly249=)
ClinVar dbSNP
14g.94381041G=CA2155953918SERPINA1c.747C= (p.Gly249=)
14g.94381041G>TCA487841060SERPINA1c.747C>A (p.Gly249=)
14g.94381042C>ACA390848794SERPINA1c.746G>T (p.Gly249Val)
14g.94381042C=CA2155953919SERPINA1c.746G= (p.Gly249=)
14g.94381042C>GCA7327415SERPINA1c.746G>C (p.Gly249Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381042C>TCA390848796SERPINA1c.746G>A (p.Gly249Asp)
14g.94381043C>ACA390848797SERPINA1c.745G>T (p.Gly249Cys)
14g.94381043C=CA2155953920SERPINA1c.745G= (p.Gly249=)
14g.94381043C>GCA274265SERPINA1c.745G>C (p.Gly249Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381043C>TCA390848799SERPINA1c.745G>A (p.Gly249Ser)
dbSNP gnomAD v2 gnomAD v4
14g.94381044T>ACA390848801SERPINA1c.744A>T (p.Leu248Phe)
14g.94381044T>CCA487841064SERPINA1c.744A>G (p.Leu248=)
14g.94381044T>GCA390848803SERPINA1c.744A>C (p.Leu248Phe)
14g.94381045A>CCA390848804SERPINA1c.743T>G (p.Leu248Ter)
14g.94381045A>GCA390848805SERPINA1c.743T>C (p.Leu248Ser)
14g.94381045A>TCA390848807SERPINA1c.743T>A (p.Leu248Ter)
14g.94381046A>CCA390848808SERPINA1c.742T>G (p.Leu248Val)
14g.94381046A>GCA487841065SERPINA1c.742T>C (p.Leu248=)
ClinVar dbSNP
14g.94381046A>TCA390848810SERPINA1c.742T>A (p.Leu248Ile)
14g.94381047A>CCA487841066SERPINA1c.741T>G (p.Arg247=)
14g.94381047A>GCA487841067SERPINA1c.741T>C (p.Arg247=)
14g.94381047A>TCA487841069SERPINA1c.741T>A (p.Arg247=)
14g.94381048C>ACA390848811SERPINA1c.740G>T (p.Arg247Leu)
dbSNP gnomAD v4
14g.94381048C=CA2155953921SERPINA1c.740G= (p.Arg247=)
14g.94381048C>GCA390848813SERPINA1c.740G>C (p.Arg247Pro)
gnomAD v4
14g.94381048C>TCA7327416SERPINA1c.740G>A (p.Arg247His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94381049G>ACA325638SERPINA1c.739C>T (p.Arg247Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.[94381049G>A;94383051G>A]CA353866SERPINA1c.[187C>T;739C>T] (p.[Arg63Cys;Arg247Cys])
14g.94381049G>CCA390848816SERPINA1c.739C>G (p.Arg247Gly)
14g.94381049G=CA2155953922SERPINA1c.739C= (p.Arg247=)
14g.94381049G>TCA265863778SERPINA1c.739C>A (p.Arg247Ser)
dbSNP gnomAD v4
14g.94381050C>ACA390848820SERPINA1c.738G>T (p.Lys246Asn)
14g.94381050C>GCA390848818SERPINA1c.738G>C (p.Lys246Asn)
14g.94381050C>TCA487841072SERPINA1c.738G>A (p.Lys246=)
ClinVar dbSNP gnomAD v4
14g.94381051T>ACA390848821SERPINA1c.737A>T (p.Lys246Met)
14g.94381051T>CCA390848823SERPINA1c.737A>G (p.Lys246Arg)
14g.94381051T>GCA348668SERPINA1c.737A>C (p.Lys246Thr)
ClinVar dbSNP gnomAD v4
14g.94381051T=CA2155953923SERPINA1c.737A= (p.Lys246=)
14g.94381052T>ACA390848825SERPINA1c.736A>T (p.Lys246Ter)
14g.94381052T>CCA390848827SERPINA1c.736A>G (p.Lys246Glu)
dbSNP
14g.94381052T>GCA390848829SERPINA1c.736A>C (p.Lys246Gln)
14g.94381052T=CA2155953924SERPINA1c.736A= (p.Lys246=)
14g.94381053C>ACA390848832SERPINA1c.735G>T (p.Met245Ile)
14g.94381053C=CA2155953925SERPINA1c.735G= (p.Met245=)
14g.94381053C>GCA390848830SERPINA1c.735G>C (p.Met245Ile)
14g.94381053C>TCA350589SERPINA1c.735G>A (p.Met245Ile)
ClinVar dbSNP COSMIC
14g.94381054A=CA2155953926SERPINA1c.734T= (p.Met245=)
14g.94381054A>CCA390848834SERPINA1c.734T>G (p.Met245Arg)
14g.94381054A>GCA7327417SERPINA1c.734T>C (p.Met245Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94381054A>TCA390848835SERPINA1c.734T>A (p.Met245Lys)
14g.94381055T>ACA390848837SERPINA1c.733A>T (p.Met245Leu)
14g.94381055T>CCA390848838SERPINA1c.733A>G (p.Met245Val)
14g.94381055T>GCA390848840SERPINA1c.733A>C (p.Met245Leu)
14g.94381056C>ACA390848842SERPINA1c.732G>T (p.Met244Ile)
14g.94381056C>GCA390848844SERPINA1c.732G>C (p.Met244Ile)
gnomAD v4
14g.94381056C>TCA390848845SERPINA1c.732G>A (p.Met244Ile)
COSMIC
14g.94381057A>CCA390848847SERPINA1c.731T>G (p.Met244Arg)
14g.94381057A>GCA390848849SERPINA1c.731T>C (p.Met244Thr)
14g.94381057A>TCA390848851SERPINA1c.731T>A (p.Met244Lys)
14g.94381058T>ACA390848852SERPINA1c.730A>T (p.Met244Leu)
14g.94381058T>CCA390848856SERPINA1c.730A>G (p.Met244Val)
dbSNP gnomAD v2 gnomAD v4
14g.94381058T>GCA390848854SERPINA1c.730A>C (p.Met244Leu)
14g.94381058T=CA2155953927SERPINA1c.730A= (p.Met244=)
14g.94381059A>CCA487841076SERPINA1c.729T>G (p.Pro243=)
14g.94381059A>GCA487841078SERPINA1c.729T>C (p.Pro243=)
14g.94381059A>TCA487841079SERPINA1c.729T>A (p.Pro243=)
14g.94381060G>ACA390848857SERPINA1c.728C>T (p.Pro243Leu)
14g.94381060G>CCA390848859SERPINA1c.728C>G (p.Pro243Arg)
14g.94381060G>TCA390848861SERPINA1c.728C>A (p.Pro243His)
14g.94381061G>ACA390848863SERPINA1c.727C>T (p.Pro243Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
14g.94381061G>CCA390848864SERPINA1c.727C>G (p.Pro243Ala)
14g.94381061G=CA2155953928SERPINA1c.727C= (p.Pro243=)
14g.94381061G>TCA390848866SERPINA1c.727C>A (p.Pro243Thr)
14g.94381062C>ACA487841080SERPINA1c.726G>T (p.Val242=)
ClinVar dbSNP
14g.94381062C=CA2155953929SERPINA1c.726G= (p.Val242=)
14g.94381062C>GCA487841082SERPINA1c.726G>C (p.Val242=)
14g.94381062C>TCA487841084SERPINA1c.726G>A (p.Val242=)
14g.94381063A=CA2155953930SERPINA1c.725T= (p.Val242=)
14g.94381063A>CCA390848868SERPINA1c.725T>G (p.Val242Gly)
14g.94381063A>GCA7327418SERPINA1c.725T>C (p.Val242Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381063A>TCA390848870SERPINA1c.725T>A (p.Val242Glu)
14g.94381064C>ACA390848871SERPINA1c.724G>T (p.Val242Leu)
14g.94381064C>GCA390848872SERPINA1c.724G>C (p.Val242Leu)
14g.94381064C>TCA390848873SERPINA1c.724G>A (p.Val242Met)
14g.94381065C>ACA390848875SERPINA1c.723G>T (p.Lys241Asn)
14g.94381065C=CA2155953931SERPINA1c.723G= (p.Lys241=)
14g.94381065C>GCA390848874SERPINA1c.723G>C (p.Lys241Asn)
14g.94381065C>TCA487841088SERPINA1c.723G>A (p.Lys241=)
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.94381066T>ACA390848878SERPINA1c.722A>T (p.Lys241Met)
14g.94381066T>CCA390848879SERPINA1c.722A>G (p.Lys241Arg)
14g.94381066T>GCA390848881SERPINA1c.722A>C (p.Lys241Thr)
14g.94381067T>ACA127693SERPINA1c.721A>T (p.Lys241Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381067T>CCA390848883SERPINA1c.721A>G (p.Lys241Glu)
14g.94381067T>GCA390848884SERPINA1c.721A>C (p.Lys241Gln)
14g.94381067T=CA2155953932SERPINA1c.721A= (p.Lys241=)
14g.94381068C>ACA487841090SERPINA1c.720G>T (p.Val240=)
14g.94381068C>GCA487841092SERPINA1c.720G>C (p.Val240=)
14g.94381068C>TCA487841094SERPINA1c.720G>A (p.Val240=)
14g.94381069A=CA2155953933SERPINA1c.719T= (p.Val240=)
14g.94381069A>CCA390848886SERPINA1c.719T>G (p.Val240Gly)
COSMIC
14g.94381069A>GCA390848887SERPINA1c.719T>C (p.Val240Ala)
14g.94381069A>TCA390848888SERPINA1c.719T>A (p.Val240Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94381070C>ACA390848890SERPINA1c.718G>T (p.Val240Leu)
dbSNP
14g.94381070C=CA2155953934SERPINA1c.718G= (p.Val240=)
14g.94381070C>GCA390848892SERPINA1c.718G>C (p.Val240Leu)
dbSNP
14g.94381070C>TCA7327419SERPINA1c.718G>A (p.Val240Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381071G>ACA7327420SERPINA1c.717C>T (p.Thr239=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381071G>CCA487841097SERPINA1c.717C>G (p.Thr239=)
14g.94381071G=CA2155953935SERPINA1c.717C= (p.Thr239=)
14g.94381071G>TCA487841098SERPINA1c.717C>A (p.Thr239=)
14g.94381072G>ACA390848897SERPINA1c.716C>T (p.Thr239Ile)
14g.94381072G>CCA390848898SERPINA1c.716C>G (p.Thr239Ser)
14g.94381072G=CA2155953936SERPINA1c.716C= (p.Thr239=)
14g.94381072G>TCA390848895SERPINA1c.716C>A (p.Thr239Asn)
dbSNP gnomAD v3 gnomAD v4
14g.94381073T>ACA390848900SERPINA1c.715A>T (p.Thr239Ser)
14g.94381073T>CCA390848901SERPINA1c.715A>G (p.Thr239Ala)
dbSNP gnomAD v2
14g.94381073T>GCA390848903SERPINA1c.715A>C (p.Thr239Pro)
14g.94381073T=CA2155953937SERPINA1c.715A= (p.Thr239=)
14g.94381073_94381074delinsTGCA2155953938SERPINA1c.714_715delinsCA (p.Thr238=)
14g.94381074G>ACA487841104SERPINA1c.714C>T (p.Thr238=)
ClinVar dbSNP
14g.94381074G>CCA487841103SERPINA1c.714C>G (p.Thr238=)
14g.94381074G>TCA487841102SERPINA1c.714C>A (p.Thr238=)
14g.94381075delCA16041709SERPINA1c.714del (p.Thr239ProfsTer2)
ClinVar dbSNP
14g.94381075G>ACA7327421SERPINA1c.713C>T (p.Thr238Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94381075G>CCA390848905SERPINA1c.713C>G (p.Thr238Ser)
14g.94381075G=CA2155953939SERPINA1c.713C= (p.Thr238=)
14g.94381075G>TCA390848907SERPINA1c.713C>A (p.Thr238Asn)
14g.94381076T>ACA390848909SERPINA1c.712A>T (p.Thr238Ser)
14g.94381076T>CCA390848912SERPINA1c.712A>G (p.Thr238Ala)
14g.94381076T>GCA390848910SERPINA1c.712A>C (p.Thr238Pro)
14g.94381077C>ACA487841106SERPINA1c.711G>T (p.Val237=)
gnomAD v4
14g.94381077C=CA2155953940SERPINA1c.711G= (p.Val237=)
14g.94381077C>GCA487841107SERPINA1c.711G>C (p.Val237=)
14g.94381077C>TCA265863785SERPINA1c.711G>A (p.Val237=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94381077_94381078insGCCGTATCATTAAAAACA966133842SERPINA1c.710_711insTTTTTAATGATACGGC (p.Thr238PhefsTer2)
gnomAD v3 gnomAD v4
14g.94381078A=CA127619SERPINA1c.710T= (p.Val237=)
14g.94381078A>CCA390848914SERPINA1c.710T>G (p.Val237Gly)
gnomAD v4
14g.94381078A>GCA127617SERPINA1c.710T>C (p.Val237Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381078A>TCA390848916SERPINA1c.710T>A (p.Val237Glu)
14g.94381079C>ACA390848920SERPINA1c.709G>T (p.Val237Leu)
14g.94381079C>GCA390848917SERPINA1c.709G>C (p.Val237Leu)
14g.94381079C>TCA390848919SERPINA1c.709G>A (p.Val237Met)
gnomAD v4
14g.94381079_94381087delinsCCTGGTCCACA2155953941SERPINA1c.701_709delinsTGGACCAGG (p.Val234=)
14g.94381080C>ACA390848922SERPINA1c.708G>T (p.Gln236His)
14g.94381080C>GCA390848924SERPINA1c.708G>C (p.Gln236His)
14g.94381080C>TCA487841109SERPINA1c.708G>A (p.Gln236=)
ClinVar
14g.94381080_94381082delinsCTGCA2155953942SERPINA1c.706_708delinsCAG (p.Gln236=)
14g.94381081_94381088delCA616114857SERPINA1c.701_708del (p.Val234GlyfsTer16)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94381081delCA966133857SERPINA1c.707del (p.Gln236ArgfsTer2)
gnomAD v3 gnomAD v4
14g.94381081T>ACA390848925SERPINA1c.707A>T (p.Gln236Leu)
14g.94381081T>CCA350778SERPINA1c.707A>G (p.Gln236Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381081T>GCA390848927SERPINA1c.707A>C (p.Gln236Pro)
gnomAD v3 gnomAD v4
14g.94381081T=CA2155953943SERPINA1c.707A= (p.Gln236=)
14g.94381081_94381082delCA616114858SERPINA1c.706_707del (p.Gln236GlyfsTer16)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94381082G>ACA390848929SERPINA1c.706C>T (p.Gln236Ter)
14g.94381082G>CCA390848930SERPINA1c.706C>G (p.Gln236Glu)
14g.94381082G=CA2155953944SERPINA1c.706C= (p.Gln236=)
14g.94381082G>TCA7327422SERPINA1c.706C>A (p.Gln236Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381083G>ACA487841111SERPINA1c.705C>T (p.Asp235=)
gnomAD v3 gnomAD v4
14g.94381083G>CCA390848932SERPINA1c.705C>G (p.Asp235Glu)
14g.94381083G=CA2155953945SERPINA1c.705C= (p.Asp235=)
14g.94381083G>TCA7327423SERPINA1c.705C>A (p.Asp235Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94381083_94381084insATCACA966133869SERPINA1c.704_705insTGAT (p.Gln236AspfsTer18)
gnomAD v3 gnomAD v4
14g.94381084T>ACA390848935SERPINA1c.704A>T (p.Asp235Val)
gnomAD v3 gnomAD v4
14g.94381084T>CCA390848936SERPINA1c.704A>G (p.Asp235Gly)
dbSNP
14g.94381084T>GCA390848938SERPINA1c.704A>C (p.Asp235Ala)
14g.94381084T=CA2155953946SERPINA1c.704A= (p.Asp235=)
14g.94381084_94381085insATCA966133872SERPINA1c.704_705insTA (p.Gln236ThrfsTer3)
gnomAD v3 gnomAD v4
14g.94381084_94381085insATCATCA966133877SERPINA1c.704_705insTGATA (p.Gln236AspfsTer4)
gnomAD v3 gnomAD v4
14g.94381084_94381085insACA616114865SERPINA1c.703_704insT (p.Asp235ValfsTer18)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94381085C>ACA390848940SERPINA1c.703G>T (p.Asp235Tyr)
14g.94381085C=CA2155953947SERPINA1c.703G= (p.Asp235=)
14g.94381085C>GCA390848942SERPINA1c.703G>C (p.Asp235His)
14g.94381085C>TCA390848941SERPINA1c.703G>A (p.Asp235Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94381085_94381086delCA966133882SERPINA1c.702_703del (p.Asp235ProfsTer17)
gnomAD v3 gnomAD v4
14g.94381086delCA966133894SERPINA1c.703del (p.Asp235ThrfsTer3)
gnomAD v3 gnomAD v4
14g.94381085_94381088delCA966133880SERPINA1c.700_703del (p.Val234ThrfsTer3)
gnomAD v3 gnomAD v4
14g.94381085_94381086insATCA966133898SERPINA1c.702_703insAT (p.Asp235MetfsTer4)
gnomAD v3 gnomAD v4
14g.94381085_94381086insATTACA966133901SERPINA1c.702_703insTAAT (p.Asp235Ter)
gnomAD v3 gnomAD v4
14g.94381085_94381086insATTAACA966133902SERPINA1c.702_703insTTAAT (p.Asp235LeufsTer5)
gnomAD v3 gnomAD v4
14g.94381086C>ACA487841115SERPINA1c.702G>T (p.Val234=)
gnomAD v3 gnomAD v4
14g.94381086C>GCA487841116SERPINA1c.702G>C (p.Val234=)
14g.94381086C>TCA487841118SERPINA1c.702G>A (p.Val234=)
gnomAD v3 gnomAD v4
14g.94381086_94381087insTTCA966133919SERPINA1c.701_702insAA (p.Asp235ArgfsTer4)
gnomAD v3 gnomAD v4
14g.94381086_94381087insTCAACA966133922SERPINA1c.701_702insTTGA (p.Asp235Ter)
gnomAD v3 gnomAD v4
14g.94381086_94381087insTTAACA966133923SERPINA1c.701_702insTTAA (p.Asp235Ter)
gnomAD v3 gnomAD v4
14g.94381086_94381087insTCAAACA966133920SERPINA1c.701_702insTTTGA (p.Asp235LeufsTer5)
gnomAD v3 gnomAD v4
14g.94381086_94381087insTTAAACA966133915SERPINA1c.701_702insTTTAA (p.Asp235LeufsTer5)
gnomAD v3 gnomAD v4
14g.94381087A=CA2155953949SERPINA1c.701T= (p.Val234=)
14g.94381087A>CCA390848943SERPINA1c.701T>G (p.Val234Gly)
14g.94381087A>GCA390848945SERPINA1c.701T>C (p.Val234Ala)
14g.94381087A>TCA7327424SERPINA1c.701T>A (p.Val234Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381087_94381089delCA966133913SERPINA1c.699_701del (p.His233_Val234delinsGln)
gnomAD v3 gnomAD v4
14g.94381087_94381092delinsACGTGGCA2155953948SERPINA1c.696_701delinsCCACGT (p.Phe232=)
14g.94381087_94381088insTCA966133948SERPINA1c.700_701insA (p.Val234AspfsTer19)
gnomAD v3 gnomAD v4
14g.94381087_94381088insTCCA966133947SERPINA1c.700_701insGA (p.Val234GlyfsTer5)
gnomAD v3 gnomAD v4
14g.94381088delCA966133945SERPINA1c.700del (p.Val234TrpfsTer4)
gnomAD v3 gnomAD v4
14g.94381088C>ACA390848948SERPINA1c.700G>T (p.Val234Leu)
14g.94381088C=CA2155953950SERPINA1c.700G= (p.Val234=)
14g.94381088C>GCA390848949SERPINA1c.700G>C (p.Val234Leu)
14g.94381088C>TCA7327425SERPINA1c.700G>A (p.Val234Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381088_94381089delCA966133941SERPINA1c.699_700del (p.Val234GlyfsTer18)
gnomAD v3 gnomAD v4
14g.94381088_94381090delCA966133939SERPINA1c.698_700del (p.His233_Val234delinsLeu)
gnomAD v3 gnomAD v4
14g.94381088_94381091delCA966133936SERPINA1c.697_700del (p.His233TrpfsTer4)
gnomAD v3 gnomAD v4
14g.94381088_94381092delCA616114866SERPINA1c.696_700del (p.His233GlyfsTer18)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94381088_94381095delCA966133934SERPINA1c.693_700del (p.Phe232GlyfsTer18)
gnomAD v3 gnomAD v4
14g.94381088_94381089insATTCA966133951SERPINA1c.699_700insAAT (p.His233_Val234insAsn)
gnomAD v3 gnomAD v4
14g.94381089G>ACA7327426SERPINA1c.699C>T (p.His233=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381089G>CCA390848952SERPINA1c.699C>G (p.His233Gln)
14g.94381089G=CA2155953951SERPINA1c.699C= (p.His233=)
14g.94381089G>TCA390848954SERPINA1c.699C>A (p.His233Gln)
gnomAD v3 gnomAD v4
14g.94381089_94381092delCA966133953SERPINA1c.696_699del (p.Phe232LeufsTer5)
gnomAD v3 gnomAD v4
14g.94381090T>ACA390848956SERPINA1c.698A>T (p.His233Leu)
gnomAD v3 gnomAD v4
14g.94381090T>CCA390848958SERPINA1c.698A>G (p.His233Arg)
14g.94381090T>GCA390848959SERPINA1c.698A>C (p.His233Pro)
14g.94381090_94381091insAACA966133962SERPINA1c.697_698insTT (p.His233LeufsTer6)
gnomAD v3 gnomAD v4
14g.94381090_94381091insTAACA966133976SERPINA1c.697_698insTTA (p.His233delinsLeuAsn)
gnomAD v3 gnomAD v4
14g.94381090_94381091insCATTAACA966133977SERPINA1c.697_698insTTAATG (p.His233delinsLeuAsnAsp)
gnomAD v3 gnomAD v4
14g.94381091G>ACA390848962SERPINA1c.697C>T (p.His233Tyr)
gnomAD v3 gnomAD v4
14g.94381091G>CCA390848964SERPINA1c.697C>G (p.His233Asp)
14g.94381091G=CA2155953952SERPINA1c.697C= (p.His233=)
14g.94381091G>TCA7327427SERPINA1c.697C>A (p.His233Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381091_94381092insAACA966133982SERPINA1c.696_697insTT (p.His233PhefsTer6)
gnomAD v3 gnomAD v4
14g.94381091_94381092insAAAAACA966133991SERPINA1c.696_697insTTTTT (p.His233PhefsTer7)
gnomAD v3 gnomAD v4
14g.94381091_94381092insTCATCAAACA966133989SERPINA1c.696_697insTTTGATGA (p.His233PhefsTer8)
gnomAD v3 gnomAD v4
14g.94381091_94381092insTCATTAAACA616114868SERPINA1c.696_697insTTTAATGA (p.His233PhefsTer8)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94381092G>ACA487841120SERPINA1c.696C>T (p.Phe232=)
gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94381092G>CCA390848965SERPINA1c.696C>G (p.Phe232Leu)
14g.94381092G=CA2155953953SERPINA1c.696C= (p.Phe232=)
14g.94381092G>TCA390848967SERPINA1c.696C>A (p.Phe232Leu)
14g.94381092_94381093insTAAAACA966134004SERPINA1c.695_696insTTTTA (p.His233PhefsTer7)
gnomAD v3 gnomAD v4
14g.94381092_94381093insTTAAAACA616114869SERPINA1c.695_696insTTTTAA (p.Phe232_His233insPheAsn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94381092_94381093insTTATAACA966134007SERPINA1c.695_696insTTATAA (p.Phe232_His233insTyrAsn)
gnomAD v3 gnomAD v4
14g.94381092_94381093insTTAAAAACA966134006SERPINA1c.695_696insTTTTTAA (p.His233PhefsTer2)
gnomAD v3 gnomAD v4
14g.94381093A>CCA390848969SERPINA1c.695T>G (p.Phe232Cys)
14g.94381093A>GCA390848971SERPINA1c.695T>C (p.Phe232Ser)
14g.94381093A>TCA390848972SERPINA1c.695T>A (p.Phe232Tyr)
14g.94381093_94381094insTAAAAACA966134001SERPINA1c.695_696insTTTTAT (p.Phe232_His233insPheIle)
gnomAD v3 gnomAD v4
14g.94381094_94381095insAAACA966133996SERPINA1c.695_696insTTT (p.Phe232_His233insPhe)
gnomAD v3 gnomAD v4
14g.94381094_94381095insAAAACA966133997SERPINA1c.695_696insTTTT (p.His233PhefsTer21)
gnomAD v3 gnomAD v4
14g.94381094A>CCA390848977SERPINA1c.694T>G (p.Phe232Val)
14g.94381094A>GCA390848974SERPINA1c.694T>C (p.Phe232Leu)
14g.94381094A>TCA390848975SERPINA1c.694T>A (p.Phe232Ile)
14g.94381095G>ACA487841124SERPINA1c.693C>T (p.Asp231=)
gnomAD v3 gnomAD v4
14g.94381095G>CCA390848979SERPINA1c.693C>G (p.Asp231Glu)
gnomAD v3 gnomAD v4
14g.94381095G=CA2155953954SERPINA1c.693C= (p.Asp231=)
14g.94381095G>TCA7327428SERPINA1c.693C>A (p.Asp231Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94381095_94381097delCA966134011SERPINA1c.691_693del (p.Asp231del)
gnomAD v3 gnomAD v4
14g.94381096T>ACA390848980SERPINA1c.692A>T (p.Asp231Val)
14g.94381096T>CCA390848982SERPINA1c.692A>G (p.Asp231Gly)
14g.94381096T>GCA390848983SERPINA1c.692A>C (p.Asp231Ala)
14g.94381096_94381097insTAAAAAAAACA966134015SERPINA1c.691_692insTTTTTTTTA (p.Asp231delinsValPhePheAsn)
gnomAD v3 gnomAD v4
14g.94381097C>ACA390848985SERPINA1c.691G>T (p.Asp231Tyr)
gnomAD v3 gnomAD v4
14g.94381097C=CA2155953955SERPINA1c.691G= (p.Asp231=)
14g.94381097C>GCA390848989SERPINA1c.691G>C (p.Asp231His)
gnomAD v3 gnomAD v4
14g.94381097C>TCA390848987SERPINA1c.691G>A (p.Asp231Asn)
dbSNP
14g.94381097_94381098insATTAAAAAAAAACA966134019SERPINA1c.690_691insTTTTTTTTTAAT (p.Glu230_Asp231insPhePhePheAsn)
gnomAD v3 gnomAD v4
14g.94381098C>ACA390848990SERPINA1c.690G>T (p.Glu230Asp)
gnomAD v3 gnomAD v4
14g.94381098C>GCA390848992SERPINA1c.690G>C (p.Glu230Asp)
14g.94381098C>TCA487841127SERPINA1c.690G>A (p.Glu230=)
14g.94381099T>ACA390848993SERPINA1c.689A>T (p.Glu230Val)
14g.94381099T>CCA390848995SERPINA1c.689A>G (p.Glu230Gly)
dbSNP gnomAD v3 gnomAD v4
14g.94381099T>GCA390848996SERPINA1c.689A>C (p.Glu230Ala)
14g.94381099T=CA2155953956SERPINA1c.689A= (p.Glu230=)
14g.94381100C>ACA390848997SERPINA1c.688G>T (p.Glu230Ter)
14g.94381100C>GCA390848998SERPINA1c.688G>C (p.Glu230Gln)
14g.94381100C>TCA390848999SERPINA1c.688G>A (p.Glu230Lys)
14g.94381101T>ACA390849000SERPINA1c.687A>T (p.Glu229Asp)
14g.94381101T>CCA487841135SERPINA1c.687A>G (p.Glu229=)
14g.94381101T>GCA390849002SERPINA1c.687A>C (p.Glu229Asp)
14g.94381102T>ACA390849003SERPINA1c.686A>T (p.Glu229Val)
14g.94381102T>CCA390849005SERPINA1c.686A>G (p.Glu229Gly)
14g.94381102T>GCA390849007SERPINA1c.686A>C (p.Glu229Ala)
14g.94381103C>ACA390849012SERPINA1c.685G>T (p.Glu229Ter)
14g.94381103C=CA2155953957SERPINA1c.685G= (p.Glu229=)
14g.94381103C>GCA390849010SERPINA1c.685G>C (p.Glu229Gln)
14g.94381103C>TCA390849009SERPINA1c.685G>A (p.Glu229Lys)
dbSNP gnomAD v4
14g.94381104C>ACA390849013SERPINA1c.684G>T (p.Glu228Asp)
14g.94381104C=CA2155953958SERPINA1c.684G= (p.Glu228=)
14g.94381104C>GCA390849014SERPINA1c.684G>C (p.Glu228Asp)
14g.94381104C>TCA7327429SERPINA1c.684G>A (p.Glu228=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94381105T>ACA390849017SERPINA1c.683A>T (p.Glu228Val)
14g.94381105T>CCA390849018SERPINA1c.683A>G (p.Glu228Gly)
14g.94381105T>GCA390849019SERPINA1c.683A>C (p.Glu228Ala)
14g.94381106C>ACA390849021SERPINA1c.682G>T (p.Glu228Ter)
14g.94381106C=CA2155953959SERPINA1c.682G= (p.Glu228=)
14g.94381106C>GCA390849023SERPINA1c.682G>C (p.Glu228Gln)
14g.94381106C>TCA127638SERPINA1c.682G>A (p.Glu228Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94381107G>ACA7327430SERPINA1c.681C>T (p.Thr227=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94381107G>CCA265863791SERPINA1c.681C>G (p.Thr227=)
ClinVar dbSNP gnomAD v4
14g.94381107G=CA2155953960SERPINA1c.681C= (p.Thr227=)
14g.94381107G>TCA487841150SERPINA1c.681C>A (p.Thr227=)
14g.94381108G>ACA390849026SERPINA1c.680C>T (p.Thr227Ile)
14g.94381108G>CCA390849027SERPINA1c.680C>G (p.Thr227Ser)
14g.94381108G>TCA390849029SERPINA1c.680C>A (p.Thr227Asn)
14g.94381109T>ACA390849032SERPINA1c.679A>T (p.Thr227Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94381109T>CCA390849034SERPINA1c.679A>G (p.Thr227Ala)
14g.94381109T>GCA390849031SERPINA1c.679A>C (p.Thr227Pro)
14g.94381109T=CA2155953961SERPINA1c.679A= (p.Thr227=)
14g.94381110G>ACA487841155SERPINA1c.678C>T (p.Asp226=)
14g.94381110G>CCA390849036SERPINA1c.678C>G (p.Asp226Glu)
14g.94381110G>TCA390849037SERPINA1c.678C>A (p.Asp226Glu)
14g.94381111T>ACA390849039SERPINA1c.677A>T (p.Asp226Val)
14g.94381111T>CCA390849040SERPINA1c.677A>G (p.Asp226Gly)
ClinVar dbSNP
14g.94381111T>GCA390849041SERPINA1c.677A>C (p.Asp226Ala)
14g.94381111T=CA2155953962SERPINA1c.677A= (p.Asp226=)
14g.94381112C>ACA390849043SERPINA1c.676G>T (p.Asp226Tyr)
dbSNP gnomAD v2 gnomAD v4
14g.94381112C=CA2155953963SERPINA1c.676G= (p.Asp226=)
14g.94381112C>GCA390849044SERPINA1c.676G>C (p.Asp226His)
14g.94381112C>TCA390849046SERPINA1c.676G>A (p.Asp226Asn)
14g.94381113C>ACA390849047SERPINA1c.675G>T (p.Lys225Asn)
14g.94381113C>GCA390849048SERPINA1c.675G>C (p.Lys225Asn)
14g.94381113C>TCA487841159SERPINA1c.675G>A (p.Lys225=)
COSMIC
14g.94381114T>ACA390849050SERPINA1c.674A>T (p.Lys225Met)
14g.94381114T>CCA390849051SERPINA1c.674A>G (p.Lys225Arg)
gnomAD v4
14g.94381114T>GCA390849053SERPINA1c.674A>C (p.Lys225Thr)
14g.94381115T>ACA390849054SERPINA1c.673A>T (p.Lys225Ter)
ClinVar
14g.94381115T>CCA390849055SERPINA1c.673A>G (p.Lys225Glu)
14g.94381115T>GCA265863793SERPINA1c.673A>C (p.Lys225Gln)
14g.94381116G>ACA487841170SERPINA1c.672C>T (p.Val224=)
gnomAD v4
14g.94381116G>CCA487841171SERPINA1c.672C>G (p.Val224=)
14g.94381116G>TCA487841172SERPINA1c.672C>A (p.Val224=)
gnomAD v4

Number of alleles fetched