Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94378415G>ACA7327236SERPINA1c.*34C>T (n.*34C>T)
c.*590C>T (n.*590C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378415G>CCA2626279357SERPINA1c.*34C>G (n.*34C>G)
c.*590C>G (n.*590C>G)
 gnomAD v4
14g.94378415G=CA2155953344SERPINA1c.*34C= (n.*34C=)
c.*590C= (n.*590C=)
14g.94378415G>TCA2626279355SERPINA1c.*34C>A (n.*34C>A)
c.*590C>A (n.*590C>A)
 gnomAD v4
14g.94378416G>ACA2155953346SERPINA1c.*33C>T (n.*33C>T)
c.*589C>T (n.*589C>T)
 dbSNP
14g.94378416G=CA2155953345SERPINA1c.*33C= (n.*33C=)
c.*589C= (n.*589C=)
14g.94378416G>TCA2575614211SERPINA1c.*33C>A (n.*33C>A)
c.*589C>A (n.*589C>A)
 gnomAD v4
14g.94378417A>TCA2626279360SERPINA1c.*32T>A (n.*32T>A)
c.*588T>A (n.*588T>A)
 gnomAD v4
14g.94378418T>CCA2575614212SERPINA1c.*31A>G (n.*31A>G)
c.*587A>G (n.*587A>G)
 gnomAD v4
14g.94378418T>GCA2626279361SERPINA1c.*31A>C (n.*31A>C)
c.*587A>C (n.*587A>C)
 gnomAD v4
14g.94378419G>ACA265860564SERPINA1c.*30C>T (n.*30C>T)
c.*586C>T (n.*586C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.94378419G=CA2155953347SERPINA1c.*30C= (n.*30C=)
c.*586C= (n.*586C=)
14g.94378419G>TCA2626279363SERPINA1c.*30C>A (n.*30C>A)
c.*586C>A (n.*586C>A)
 gnomAD v4
14g.94378426_94378430delCA2626279362SERPINA1c.*26_*30del (n.*26_*30del)
c.*582_*586del (n.*582_*586del)
 gnomAD v4
14g.94378420G>TCA2626279364SERPINA1c.*29C>A (n.*29C>A)
c.*585C>A (n.*585C>A)
 gnomAD v4
14g.94378422G>ACA616114950SERPINA1c.*27C>T (n.*27C>T)
c.*583C>T (n.*583C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.94378422G=CA2155953348SERPINA1c.*27C= (n.*27C=)
c.*583C= (n.*583C=)
14g.94378424G>ACA2626279367SERPINA1c.*25C>T (n.*25C>T)
c.*581C>T (n.*581C>T)
 gnomAD v4
14g.94378426A>GCA2802663584SERPINA1c.*23T>C (n.*23T>C)
c.*579T>C (n.*579T>C)
14g.94378428G>ACA2575614213SERPINA1c.*21C>T (n.*21C>T)
c.*577C>T (n.*577C>T)
14g.94378428G=CA2155953349SERPINA1c.*21C= (n.*21C=)
c.*577C= (n.*577C=)
14g.94378428G>TCA7327237SERPINA1c.*21C>A (n.*21C>A)
c.*577C>A (n.*577C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378429G>ACA2575614214SERPINA1c.*20C>T (n.*20C>T)
c.*576C>T (n.*576C>T)
14g.94378429G>TCA2626279371SERPINA1c.*20C>A (n.*20C>A)
c.*576C>A (n.*576C>A)
 gnomAD v4
14g.94378430G>ACA7327238SERPINA1c.*19C>T (n.*19C>T)
c.*575C>T (n.*575C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378430G=CA2155953350SERPINA1c.*19C= (n.*19C=)
c.*575C= (n.*575C=)
14g.94378430G>TCA2626279372SERPINA1c.*19C>A (n.*19C>A)
c.*575C>A (n.*575C>A)
 gnomAD v4
14g.94378431T>CCA7327239SERPINA1c.*18A>G (n.*18A>G)
c.*574A>G (n.*574A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378431T=CA2155953351SERPINA1c.*18A= (n.*18A=)
c.*574A= (n.*574A=)
14g.94378433G>ACA2626279376SERPINA1c.*16C>T (n.*16C>T)
c.*572C>T (n.*572C>T)
 gnomAD v4
14g.94378434A>GCA2802663586SERPINA1c.*15T>C (n.*15T>C)
c.*571T>C (n.*571T>C)
14g.94378434_94378444delinsAGGAGCGAGAGCA2155953352SERPINA1c.*5_*15delinsCTCTCGCTCCT (n.*5_*15delinsCTCTCGCTCCT)
c.*561_*571delinsCTCTCGCTCCT (n.*561_*571delinsCTCTCGCTCCT)
14g.94378435G>ACA7327240SERPINA1c.*14C>T (n.*14C>T)
c.*570C>T (n.*570C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378435G=CA2155953353SERPINA1c.*14C= (n.*14C=)
c.*570C= (n.*570C=)
14g.94378436_94378445delCA245914SERPINA1c.*5_*14del (n.*5_*14del)
c.*561_*570del (n.*561_*570del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378438G>ACA2730051561SERPINA1c.*11C>T (n.*11C>T)
c.*567C>T (n.*567C>T)
 dbSNP
14g.94378439C=CA2155953354SERPINA1c.*10G= (n.*10G=)
c.*566G= (n.*566G=)
14g.94378439C>GCA616114960SERPINA1c.*10G>C (n.*10G>C)
c.*566G>C (n.*566G>C)
 dbSNP gnomAD v2 gnomAD v4
14g.94378439C>TCA7327241SERPINA1c.*10G>A (n.*10G>A)
c.*566G>A (n.*566G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378440G>ACA7327242SERPINA1c.*9C>T (n.*9C>T)
c.*565C>T (n.*565C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378440G=CA2155953355SERPINA1c.*9C= (n.*9C=)
c.*565C= (n.*565C=)
14g.94378440G>TCA2626279386SERPINA1c.*9C>A (n.*9C>A)
c.*565C>A (n.*565C>A)
 gnomAD v4
14g.94378443_94378444dupCA2626279388SERPINA1c.*8_*9dup (n.*8_*9dup)
c.*564_*565dup (n.*564_*565dup)
 gnomAD v4
14g.94378442G>ACA265860574SERPINA1c.*7C>T (n.*7C>T)
c.*563C>T (n.*563C>T)
 dbSNP
14g.94378442G>CCA265860577SERPINA1c.*7C>G (n.*7C>G)
c.*563C>G (n.*563C>G)
 dbSNP
14g.94378442G=CA2155953356SERPINA1c.*7C= (n.*7C=)
c.*563C= (n.*563C=)
14g.94378443A>GCA2626279390SERPINA1c.*6T>C (n.*6T>C)
c.*562T>C (n.*562T>C)
 gnomAD v4
14g.94378444G>ACA616114963SERPINA1c.*5C>T (n.*5C>T)
c.*561C>T (n.*561C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378444G>CCA2626279391SERPINA1c.*5C>G (n.*5C>G)
c.*561C>G (n.*561C>G)
 gnomAD v4
14g.94378444G=CA2155953357SERPINA1c.*5C= (n.*5C=)
c.*561C= (n.*561C=)
14g.94378445G>ACA265860579SERPINA1c.*4C>T (n.*4C>T)
c.*560C>T (n.*560C>T)
 dbSNP gnomAD v4
14g.94378445G=CA2155953358SERPINA1c.*4C= (n.*4C=)
c.*560C= (n.*560C=)
14g.94378445G>TCA616114965SERPINA1c.*4C>A (n.*4C>A)
c.*560C>A (n.*560C>A)
 dbSNP gnomAD v2 gnomAD v4
14g.94378445_94378446delCA2802663588SERPINA1c.*3_*4del (n.*3_*4del)
c.*559_*560del (n.*559_*560del)
14g.94378446C>ACA265860581SERPINA1c.*3G>T (n.*3G>T)
c.*559G>T (n.*559G>T)
 dbSNP
14g.94378446C=CA2155953359SERPINA1c.*3G= (n.*3G=)
c.*559G= (n.*559G=)
14g.94378447A=CA2155953360SERPINA1c.*2T= (n.*2T=)
c.*558T= (n.*558T=)
14g.94378447A>CCA2626279394SERPINA1c.*2T>G (n.*2T>G)
c.*558T>G (n.*558T>G)
 gnomAD v4
14g.94378447A>TCA2155953361SERPINA1c.*2T>A (n.*2T>A)
c.*558T>A (n.*558T>A)
 dbSNP
14g.94378448G>ACA7327243SERPINA1c.*1C>T (n.*1C>T)
c.*557C>T (n.*557C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378448G>CCA710093174SERPINA1c.*1C>G (n.*1C>G)
c.*557C>G (n.*557C>G)
 dbSNP gnomAD v3 gnomAD v4
14g.94378448G=CA2155953362SERPINA1c.*1C= (n.*1C=)
c.*557C= (n.*557C=)
14g.94378449T>ACA390847266SERPINA1c.1257A>T (p.Ter419Tyr)
c.*556A>T (n.*556A>T)
14g.94378449T>CCA487621063SERPINA1c.1257A>G (p.Ter419=)
c.*556A>G (n.*556A>G)
14g.94378449T>GCA390847267SERPINA1c.1257A>C (p.Ter419Tyr)
c.*556A>C (n.*556A>C)
14g.94378450T>ACA390847268SERPINA1c.1256A>T (p.Ter419Leu)
c.*555A>T (n.*555A>T)
14g.94378450T>CCA7327244SERPINA1c.1256A>G (p.Ter419=)
c.*555A>G (n.*555A>G)
 dbSNP ExAC
14g.94378450T>GCA390847269SERPINA1c.1256A>C (p.Ter419Ser)
c.*555A>C (n.*555A>C)
14g.94378450T=CA2155953363SERPINA1c.1256A= (p.Ter419=)
c.*555A= (n.*555A=)
14g.94378456_94378504delCA2695219652SERPINA1c.1208_1256del (p.Thr403AsnfsTer?)
c.1208_1256del (p.Thr403=)
c.*507_*555del (n.*507_*555del)
14g.94378451A>CCA390847270SERPINA1c.1255T>G (p.Ter419Glu)
c.*554T>G (n.*554T>G)
14g.94378451A>GCA390847271SERPINA1c.1255T>C (p.Ter419Gln)
c.*554T>C (n.*554T>C)
14g.94378451A>TCA390847272SERPINA1c.1255T>A (p.Ter419Lys)
c.*554T>A (n.*554T>A)
14g.94378452T>ACA390847273SERPINA1c.1254A>T (p.Lys418Asn)
c.*553A>T (n.*553A>T)
14g.94378452T>CCA487621066SERPINA1c.1254A>G (p.Lys418=)
c.*553A>G (n.*553A>G)
14g.94378452T>GCA390847274SERPINA1c.1254A>C (p.Lys418Asn)
c.*553A>C (n.*553A>C)
14g.94378453T>ACA390847275SERPINA1c.1253A>T (p.Lys418Ile)
c.*552A>T (n.*552A>T)
 dbSNP gnomAD v4
14g.94378453T>CCA390847276SERPINA1c.1253A>G (p.Lys418Arg)
c.*552A>G (n.*552A>G)
14g.94378453T>GCA390847277SERPINA1c.1253A>C (p.Lys418Thr)
c.*552A>C (n.*552A>C)
14g.94378453T=CA2155953364SERPINA1c.1253A= (p.Lys418=)
c.*552A= (n.*552A=)
14g.94378454T>ACA390847278SERPINA1c.1252A>T (p.Lys418Ter)
c.*551A>T (n.*551A>T)
 gnomAD v4
14g.94378454T>CCA390847279SERPINA1c.1252A>G (p.Lys418Glu)
c.*551A>G (n.*551A>G)
14g.94378454T>GCA390847280SERPINA1c.1252A>C (p.Lys418Gln)
c.*551A>C (n.*551A>C)
14g.94378455T>ACA390847282SERPINA1c.1251A>T (p.Gln417His)
c.*550A>T (n.*550A>T)
14g.94378455T>CCA265860585SERPINA1c.1251A>G (p.Gln417=)
c.*550A>G (n.*550A>G)
 dbSNP
14g.94378455T>GCA390847281SERPINA1c.1251A>C (p.Gln417His)
c.*550A>C (n.*550A>C)
14g.94378455T=CA2155953365SERPINA1c.1251A= (p.Gln417=)
c.*550A= (n.*550A=)
14g.94378456T>ACA7327245SERPINA1c.1250A>T (p.Gln417Leu)
c.*549A>T (n.*549A>T)
 dbSNP ExAC gnomAD v3 gnomAD v4
14g.94378456T>CCA390847283SERPINA1c.1250A>G (p.Gln417Arg)
c.*549A>G (n.*549A>G)
14g.94378456T>GCA390847284SERPINA1c.1250A>C (p.Gln417Pro)
c.*549A>C (n.*549A>C)
 gnomAD v4
14g.94378456T=CA2155953366SERPINA1c.1250A= (p.Gln417=)
c.*549A= (n.*549A=)
14g.94378457G>ACA390847285SERPINA1c.1249C>T (p.Gln417Ter)
c.*548C>T (n.*548C>T)
14g.94378457G>CCA390847286SERPINA1c.1249C>G (p.Gln417Glu)
c.*548C>G (n.*548C>G)
14g.94378457G=CA2155953367SERPINA1c.1249C= (p.Gln417=)
c.*548C= (n.*548C=)
14g.94378457G>TCA390847287SERPINA1c.1249C>A (p.Gln417Lys)
c.*548C>A (n.*548C>A)
 dbSNP gnomAD v4
14g.94378458G>ACA487621072SERPINA1c.1248C>T (p.Thr416=)
c.*547C>T (n.*547C>T)
 dbSNP gnomAD v4
14g.94378458G>CCA487621073SERPINA1c.1248C>G (p.Thr416=)
c.*547C>G (n.*547C>G)
14g.94378458G=CA2155953368SERPINA1c.1248C= (p.Thr416=)
c.*547C= (n.*547C=)
14g.94378458G>TCA487621074SERPINA1c.1248C>A (p.Thr416=)
c.*547C>A (n.*547C>A)
 ClinVar dbSNP gnomAD v4
14g.94378459G>ACA390847288SERPINA1c.1247C>T (p.Thr416Ile)
c.*546C>T (n.*546C>T)
14g.94378459G>CCA390847290SERPINA1c.1247C>G (p.Thr416Ser)
c.*546C>G (n.*546C>G)
14g.94378459G>TCA390847289SERPINA1c.1247C>A (p.Thr416Asn)
c.*546C>A (n.*546C>A)
14g.94378460T>ACA390847291SERPINA1c.1246A>T (p.Thr416Ser)
c.*545A>T (n.*545A>T)
14g.94378460T>CCA390847292SERPINA1c.1246A>G (p.Thr416Ala)
c.*545A>G (n.*545A>G)
14g.94378460T>GCA265860588SERPINA1c.1246A>C (p.Thr416Pro)
c.*545A>C (n.*545A>C)
 dbSNP gnomAD v2 gnomAD v4
14g.94378460T=CA2155953369SERPINA1c.1246A= (p.Thr416=)
c.*545A= (n.*545A=)
14g.94378460_94378461delinsTGCA2155953370SERPINA1c.1245_1246delinsCA (p.Pro415=)
c.*544_*545delinsCA (n.*544_*545delinsCA)
14g.94378461G>ACA487621077SERPINA1c.1245C>T (p.Pro415=)
c.*544C>T (n.*544C>T)
 gnomAD v4
14g.94378461G>CCA487621078SERPINA1c.1245C>G (p.Pro415=)
c.*544C>G (n.*544C>G)
14g.94378461G>TCA487621079SERPINA1c.1245C>A (p.Pro415=)
c.*544C>A (n.*544C>A)
14g.94378463delCA616114970SERPINA1c.1245del (p.Thr416ProfsTer?)
c.*544del (n.*544del)
 dbSNP gnomAD v2 gnomAD v4
14g.94378462G>ACA390847293SERPINA1c.1244C>T (p.Pro415Leu)
c.*543C>T (n.*543C>T)
 ClinVar dbSNP gnomAD v4
14g.94378462G>CCA390847294SERPINA1c.1244C>G (p.Pro415Arg)
c.*543C>G (n.*543C>G)
14g.94378462G>TCA390847295SERPINA1c.1244C>A (p.Pro415His)
c.*543C>A (n.*543C>A)
14g.94378463G>ACA390847296SERPINA1c.1243C>T (p.Pro415Ser)
c.*542C>T (n.*542C>T)
14g.94378463G>CCA390847297SERPINA1c.1243C>G (p.Pro415Ala)
c.*542C>G (n.*542C>G)
14g.94378463G>TCA390847298SERPINA1c.1243C>A (p.Pro415Thr)
c.*542C>A (n.*542C>A)
14g.94378464A>CCA390847299SERPINA1c.1242T>G (p.Asn414Lys)
c.*541T>G (n.*541T>G)
14g.94378464A>GCA487621083SERPINA1c.1242T>C (p.Asn414=)
c.*541T>C (n.*541T>C)
14g.94378464A>TCA390847300SERPINA1c.1242T>A (p.Asn414Lys)
c.*541T>A (n.*541T>A)
14g.94378465T>ACA390847301SERPINA1c.1241A>T (p.Asn414Ile)
c.*540A>T (n.*540A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378465T>CCA390847303SERPINA1c.1241A>G (p.Asn414Ser)
c.*540A>G (n.*540A>G)
14g.94378465T>GCA390847302SERPINA1c.1241A>C (p.Asn414Thr)
c.*540A>C (n.*540A>C)
14g.94378465T=CA2155953371SERPINA1c.1241A= (p.Asn414=)
c.*540A= (n.*540A=)
14g.94378466T>ACA390847304SERPINA1c.1240A>T (p.Asn414Tyr)
c.*539A>T (n.*539A>T)
14g.94378466T>CCA390847305SERPINA1c.1240A>G (p.Asn414Asp)
c.*539A>G (n.*539A>G)
14g.94378466T>GCA390847306SERPINA1c.1240A>C (p.Asn414His)
c.*539A>C (n.*539A>C)
14g.94378466_94378469delinsTCACCA2155953372SERPINA1c.1237_1240delinsGTGA (p.Val413=)
c.*536_*539delinsGTGA (n.*536_*539delinsGTGA)
14g.94378467C>ACA487621084SERPINA1c.1239G>T (p.Val413=)
c.*538G>T (n.*538G>T)
14g.94378467C>GCA487621086SERPINA1c.1239G>C (p.Val413=)
c.*538G>C (n.*538G>C)
14g.94378467C>TCA487621087SERPINA1c.1239G>A (p.Val413=)
c.*538G>A (n.*538G>A)
 COSMIC
14g.94378470_94378472delCA7327246SERPINA1c.1237_1239del (p.Val413del)
c.*536_*538del (n.*536_*538del)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378468A>CCA390847307SERPINA1c.1238T>G (p.Val413Gly)
c.*537T>G (n.*537T>G)
14g.94378468A>GCA390847308SERPINA1c.1238T>C (p.Val413Ala)
c.*537T>C (n.*537T>C)
14g.94378468A>TCA390847309SERPINA1c.1238T>A (p.Val413Glu)
c.*537T>A (n.*537T>A)
14g.94378469C>ACA390847310SERPINA1c.1237G>T (p.Val413Leu)
c.*536G>T (n.*536G>T)
 gnomAD v4
14g.94378469C=CA2155953373SERPINA1c.1237G= (p.Val413=)
c.*536G= (n.*536G=)
14g.94378469C>GCA390847311SERPINA1c.1237G>C (p.Val413Leu)
c.*536G>C (n.*536G>C)
 dbSNP gnomAD v4
14g.94378469C>TCA390847312SERPINA1c.1237G>A (p.Val413Met)
c.*536G>A (n.*536G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.94378470C>ACA487621088SERPINA1c.1236G>T (p.Val412=)
c.*535G>T (n.*535G>T)
14g.94378470C>GCA487621090SERPINA1c.1236G>C (p.Val412=)
c.*535G>C (n.*535G>C)
14g.94378470C>TCA487621091SERPINA1c.1236G>A (p.Val412=)
c.*535G>A (n.*535G>A)
14g.94378471A>CCA390847313SERPINA1c.1235T>G (p.Val412Gly)
c.*534T>G (n.*534T>G)
14g.94378471A>GCA390847314SERPINA1c.1235T>C (p.Val412Ala)
c.*534T>C (n.*534T>C)
14g.94378471A>TCA390847315SERPINA1c.1235T>A (p.Val412Glu)
c.*534T>A (n.*534T>A)
14g.94378472C>ACA390847318SERPINA1c.1234G>T (p.Val412Leu)
c.*533G>T (n.*533G>T)
14g.94378472C>GCA390847317SERPINA1c.1234G>C (p.Val412Leu)
c.*533G>C (n.*533G>C)
14g.94378472C>TCA390847316SERPINA1c.1234G>A (p.Val412Met)
c.*533G>A (n.*533G>A)
14g.94378473T>ACA390847319SERPINA1c.1233A>T (p.Lys411Asn)
c.*532A>T (n.*532A>T)
14g.94378473T>CCA487621093SERPINA1c.1233A>G (p.Lys411=)
c.*532A>G (n.*532A>G)
14g.94378473T>GCA390847320SERPINA1c.1233A>C (p.Lys411Asn)
c.*532A>C (n.*532A>C)
14g.94378474T>ACA390847321SERPINA1c.1232A>T (p.Lys411Ile)
c.*531A>T (n.*531A>T)
14g.94378474T>CCA390847322SERPINA1c.1232A>G (p.Lys411Arg)
c.*531A>G (n.*531A>G)
14g.94378474T>GCA390847323SERPINA1c.1232A>C (p.Lys411Thr)
c.*531A>C (n.*531A>C)
14g.94378475T>ACA390847324SERPINA1c.1231A>T (p.Lys411Ter)
c.*530A>T (n.*530A>T)
14g.94378475T>CCA390847325SERPINA1c.1231A>G (p.Lys411Glu)
c.*530A>G (n.*530A>G)
14g.94378475T>GCA390847326SERPINA1c.1231A>C (p.Lys411Gln)
c.*530A>C (n.*530A>C)
14g.94378476T>ACA487621094SERPINA1c.1230A>T (p.Gly410=)
c.*529A>T (n.*529A>T)
14g.94378476T>CCA487621096SERPINA1c.1230A>G (p.Gly410=)
c.*529A>G (n.*529A>G)
14g.94378476T>GCA487621095SERPINA1c.1230A>C (p.Gly410=)
c.*529A>C (n.*529A>C)
14g.94378477C>ACA390847327SERPINA1c.1229G>T (p.Gly410Val)
c.*528G>T (n.*528G>T)
14g.94378477C=CA2155953374SERPINA1c.1229G= (p.Gly410=)
c.*528G= (n.*528G=)
14g.94378477C>GCA390847328SERPINA1c.1229G>C (p.Gly410Ala)
c.*528G>C (n.*528G>C)
14g.94378477C>TCA390847329SERPINA1c.1229G>A (p.Gly410Glu)
c.*528G>A (n.*528G>A)
 dbSNP COSMIC
14g.94378478C>ACA390847330SERPINA1c.1228G>T (p.Gly410Ter)
c.*527G>T (n.*527G>T)
14g.94378478C>GCA390847331SERPINA1c.1228G>C (p.Gly410Arg)
c.*527G>C (n.*527G>C)
14g.94378478C>TCA390847332SERPINA1c.1228G>A (p.Gly410Arg)
c.*527G>A (n.*527G>A)
 COSMIC
14g.94378479C>ACA390847334SERPINA1c.1227G>T (p.Met409Ile)
c.*526G>T (n.*526G>T)
14g.94378479C>GCA390847335SERPINA1c.1227G>C (p.Met409Ile)
c.*526G>C (n.*526G>C)
14g.94378479C>TCA390847333SERPINA1c.1227G>A (p.Met409Ile)
c.*526G>A (n.*526G>A)
14g.94378480A=CA2155953375SERPINA1c.1226T= (p.Met409=)
c.*525T= (n.*525T=)
14g.94378480A>CCA390847336SERPINA1c.1226T>G (p.Met409Arg)
c.*525T>G (n.*525T>G)
14g.94378480A>GCA390847337SERPINA1c.1226T>C (p.Met409Thr)
c.*525T>C (n.*525T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.94378480A>TCA390847339SERPINA1c.1226T>A (p.Met409Lys)
c.*525T>A (n.*525T>A)
14g.94378481T>ACA390847342SERPINA1c.1225A>T (p.Met409Leu)
c.*524A>T (n.*524A>T)
14g.94378481T>CCA7327247SERPINA1c.1225A>G (p.Met409Val)
c.*524A>G (n.*524A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378481T>GCA390847345SERPINA1c.1225A>C (p.Met409Leu)
c.*524A>C (n.*524A>C)
 dbSNP gnomAD v3 gnomAD v4
14g.94378481T=CA2155953376SERPINA1c.1225A= (p.Met409=)
c.*524A= (n.*524A=)
14g.94378482G>ACA487621097SERPINA1c.1224C>T (p.Phe408=)
c.*523C>T (n.*523C>T)
 gnomAD v4
14g.94378482G>CCA390847349SERPINA1c.1224C>G (p.Phe408Leu)
c.*523C>G (n.*523C>G)
14g.94378482G>TCA390847351SERPINA1c.1224C>A (p.Phe408Leu)
c.*523C>A (n.*523C>A)
14g.94378483A>CCA390847354SERPINA1c.1223T>G (p.Phe408Cys)
c.*522T>G (n.*522T>G)
14g.94378483A>GCA390847357SERPINA1c.1223T>C (p.Phe408Ser)
c.*522T>C (n.*522T>C)
14g.94378483A>TCA390847360SERPINA1c.1223T>A (p.Phe408Tyr)
c.*522T>A (n.*522T>A)
14g.94378484A>CCA390847363SERPINA1c.1222T>G (p.Phe408Val)
c.*521T>G (n.*521T>G)
14g.94378484A>GCA390847365SERPINA1c.1222T>C (p.Phe408Leu)
c.*521T>C (n.*521T>C)
14g.94378484A>TCA390847367SERPINA1c.1222T>A (p.Phe408Ile)
c.*521T>A (n.*521T>A)
14g.94378485G>ACA7327248SERPINA1c.1221C>T (p.Leu407=)
c.*520C>T (n.*520C>T)
 ClinVar dbSNP ExAC gnomAD v2
14g.94378485G>CCA487621099SERPINA1c.1221C>G (p.Leu407=)
c.*520C>G (n.*520C>G)
14g.94378485G=CA2155953377SERPINA1c.1221C= (p.Leu407=)
c.*520C= (n.*520C=)
14g.94378485G>TCA487621098SERPINA1c.1221C>A (p.Leu407=)
c.*520C>A (n.*520C>A)
14g.94378486A=CA2155953378SERPINA1c.1220T= (p.Leu407=)
c.*519T= (n.*519T=)
14g.94378486A>CCA265860594SERPINA1c.1220T>G (p.Leu407Arg)
c.*519T>G (n.*519T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378486A>GCA390847374SERPINA1c.1220T>C (p.Leu407Pro)
c.*519T>C (n.*519T>C)
14g.94378486A>TCA390847376SERPINA1c.1220T>A (p.Leu407His)
c.*519T>A (n.*519T>A)
14g.94378487G>ACA390847378SERPINA1c.1219C>T (p.Leu407Phe)
c.*518C>T (n.*518C>T)
 gnomAD v4
14g.94378487G>CCA390847380SERPINA1c.1219C>G (p.Leu407Val)
c.*518C>G (n.*518C>G)
 dbSNP gnomAD v4 COSMIC
14g.94378487G=CA2155953379SERPINA1c.1219C= (p.Leu407=)
c.*518C= (n.*518C=)
14g.94378487G>TCA390847382SERPINA1c.1219C>A (p.Leu407Ile)
c.*518C>A (n.*518C>A)
14g.94378490delCA2626279418SERPINA1c.1219del (p.Leu407SerfsTer7)
c.*518del (n.*518del)
 gnomAD v4
14g.94378488G>ACA487621100SERPINA1c.1218C>T (p.Pro406=)
c.*517C>T (n.*517C>T)
14g.94378488G>CCA487621101SERPINA1c.1218C>G (p.Pro406=)
c.*517C>G (n.*517C>G)
14g.94378488G>TCA487621102SERPINA1c.1218C>A (p.Pro406=)
c.*517C>A (n.*517C>A)
 gnomAD v4
14g.94378489G>ACA390847385SERPINA1c.1217C>T (p.Pro406Leu)
c.*516C>T (n.*516C>T)
 dbSNP
14g.94378489G>CCA390847387SERPINA1c.1217C>G (p.Pro406Arg)
c.*516C>G (n.*516C>G)
14g.94378489G=CA2155953380SERPINA1c.1217C= (p.Pro406=)
c.*516C= (n.*516C=)
14g.94378489G>TCA390847389SERPINA1c.1217C>A (p.Pro406His)
c.*516C>A (n.*516C>A)
14g.94378490G>ACA390847391SERPINA1c.1216C>T (p.Pro406Ser)
c.*515C>T (n.*515C>T)
 COSMIC
14g.94378490G>CCA390847392SERPINA1c.1216C>G (p.Pro406Ala)
c.*515C>G (n.*515C>G)
14g.94378490G=CA2155953381SERPINA1c.1216C= (p.Pro406=)
c.*515C= (n.*515C=)
14g.94378490G>TCA7327249SERPINA1c.1216C>A (p.Pro406Thr)
c.*515C>A (n.*515C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378491A>CCA487621103SERPINA1c.1215T>G (p.Ser405=)
c.*514T>G (n.*514T>G)
14g.94378491A>GCA487621104SERPINA1c.1215T>C (p.Ser405=)
c.*514T>C (n.*514T>C)
14g.94378491A>TCA487621105SERPINA1c.1215T>A (p.Ser405=)
c.*514T>A (n.*514T>A)
14g.94378492G>ACA390847396SERPINA1c.1214C>T (p.Ser405Phe)
c.*513C>T (n.*513C>T)
 dbSNP
14g.94378492G>CCA390847400SERPINA1c.1214C>G (p.Ser405Cys)
c.*513C>G (n.*513C>G)
14g.94378492G=CA2155953382SERPINA1c.1214C= (p.Ser405=)
c.*513C= (n.*513C=)
14g.94378492G>TCA265860597SERPINA1c.1214C>A (p.Ser405Tyr)
c.*513C>A (n.*513C>A)
 dbSNP gnomAD v3 gnomAD v4
14g.94378493A>CCA390847403SERPINA1c.1213T>G (p.Ser405Ala)
c.*512T>G (n.*512T>G)
14g.94378493A>GCA390847407SERPINA1c.1213T>C (p.Ser405Pro)
c.*512T>C (n.*512T>C)
14g.94378493A>TCA390847405SERPINA1c.1213T>A (p.Ser405Thr)
c.*512T>A (n.*512T>A)
14g.94378494C>ACA390847408SERPINA1c.1212G>T (p.Lys404Asn)
c.*511G>T (n.*511G>T)
 dbSNP
14g.94378494C>GCA390847409SERPINA1c.1212G>C (p.Lys404Asn)
c.*511G>C (n.*511G>C)
 gnomAD v4
14g.94378494C>TCA487621106SERPINA1c.1212G>A (p.Lys404=)
c.*511G>A (n.*511G>A)
14g.94378495T>ACA390847411SERPINA1c.1211A>T (p.Lys404Met)
c.*510A>T (n.*510A>T)
14g.94378495T>CCA7327250SERPINA1c.1211A>G (p.Lys404Arg)
c.*510A>G (n.*510A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378495T>GCA265860599SERPINA1c.1211A>C (p.Lys404Thr)
c.*510A>C (n.*510A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378495T=CA2155953383SERPINA1c.1211A= (p.Lys404=)
c.*510A= (n.*510A=)
14g.94378496T>ACA390847420SERPINA1c.1210A>T (p.Lys404Ter)
c.*509A>T (n.*509A>T)
14g.94378496T>CCA390847418SERPINA1c.1210A>G (p.Lys404Glu)
c.*509A>G (n.*509A>G)
14g.94378496T>GCA390847416SERPINA1c.1210A>C (p.Lys404Gln)
c.*509A>C (n.*509A>C)
14g.94378497G>ACA487621107SERPINA1c.1209C>T (p.Thr403=)
c.*508C>T (n.*508C>T)
14g.94378497G>CCA487621108SERPINA1c.1209C>G (p.Thr403=)
c.*508C>G (n.*508C>G)
14g.94378497G>TCA487621109SERPINA1c.1209C>A (p.Thr403=)
c.*508C>A (n.*508C>A)
 gnomAD v4
14g.94378498G>ACA350154SERPINA1c.1208C>T (p.Thr403Ile)
c.*507C>T (n.*507C>T)
 ClinVar dbSNP gnomAD v4
14g.94378498G>CCA7327251SERPINA1c.1208C>G (p.Thr403Ser)
c.*507C>G (n.*507C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94378498G=CA2155953384SERPINA1c.1208C= (p.Thr403=)
c.*507C= (n.*507C=)
14g.94378498G>TCA390847425SERPINA1c.1208C>A (p.Thr403Asn)
c.*507C>A (n.*507C>A)
 dbSNP
14g.94378499T>ACA390847428SERPINA1c.1207A>T (p.Thr403Ser)
c.*506A>T (n.*506A>T)
14g.94378499T>CCA390847430SERPINA1c.1207A>G (p.Thr403Ala)
c.*506A>G (n.*506A>G)
 dbSNP gnomAD v4
14g.94378499T>GCA390847432SERPINA1c.1207A>C (p.Thr403Pro)
c.*506A>C (n.*506A>C)
14g.94378499T=CA2155953385SERPINA1c.1207A= (p.Thr403=)
c.*506A= (n.*506A=)
14g.94378500A=CA2155953387SERPINA1c.1206T= (p.Asn402=)
c.*505T= (n.*505T=)
14g.94378500A>CCA390847435SERPINA1c.1206T>G (p.Asn402Lys)
c.*505T>G (n.*505T>G)
14g.94378500A>GCA7327252SERPINA1c.1206T>C (p.Asn402=)
c.*505T>C (n.*505T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378500A>TCA390847437SERPINA1c.1206T>A (p.Asn402Lys)
c.*505T>A (n.*505T>A)
14g.94378500_94378501delinsATCA2155953386SERPINA1c.1205_1206delinsAT (p.Asn402=)
c.*504_*505delinsAT (n.*504_*505delinsAT)
14g.94378501T>ACA390847442SERPINA1c.1205A>T (p.Asn402Ile)
c.*504A>T (n.*504A>T)
14g.94378501T>CCA390847445SERPINA1c.1205A>G (p.Asn402Ser)
c.*504A>G (n.*504A>G)
14g.94378501T>GCA390847447SERPINA1c.1205A>C (p.Asn402Thr)
c.*504A>C (n.*504A>C)
14g.94378504delCA616114972SERPINA1c.1205del (p.Asn402IlefsTer12)
c.*504del (n.*504del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378502T>ACA390847449SERPINA1c.1204A>T (p.Asn402Tyr)
c.*503A>T (n.*503A>T)
14g.94378502T>CCA390847452SERPINA1c.1204A>G (p.Asn402Asp)
c.*503A>G (n.*503A>G)
14g.94378502T>GCA390847454SERPINA1c.1204A>C (p.Asn402His)
c.*503A>C (n.*503A>C)
14g.94378503T>ACA390847457SERPINA1c.1203A>T (p.Gln401His)
c.*502A>T (n.*502A>T)
14g.94378503T>CCA487621110SERPINA1c.1203A>G (p.Gln401=)
c.*502A>G (n.*502A>G)
14g.94378503T>GCA390847459SERPINA1c.1203A>C (p.Gln401His)
c.*502A>C (n.*502A>C)
14g.94378504T>ACA390847462SERPINA1c.1202A>T (p.Gln401Leu)
c.*501A>T (n.*501A>T)
14g.94378504T>CCA390847464SERPINA1c.1202A>G (p.Gln401Arg)
c.*501A>G (n.*501A>G)
 gnomAD v4
14g.94378504T>GCA390847466SERPINA1c.1202A>C (p.Gln401Pro)
c.*501A>C (n.*501A>C)
 dbSNP
14g.94378504T=CA2155953389SERPINA1c.1202A= (p.Gln401=)
c.*501A= (n.*501A=)
14g.94378504_94378505delinsTGCA2155953388SERPINA1c.1201_1202delinsCA (p.Gln401=)
c.*500_*501delinsCA (n.*500_*501delinsCA)
14g.94378505delCA265860605SERPINA1c.1201del (p.Gln401LysfsTer13)
c.*500del (n.*500del)
 dbSNP
14g.94378505G>ACA390847470SERPINA1c.1201C>T (p.Gln401Ter)
c.*500C>T (n.*500C>T)
14g.94378505G>CCA390847473SERPINA1c.1201C>G (p.Gln401Glu)
c.*500C>G (n.*500C>G)
14g.94378505G=CA2155953390SERPINA1c.1201C= (p.Gln401=)
c.*500C= (n.*500C=)
14g.94378505G>TCA265860607SERPINA1c.1201C>A (p.Gln401Lys)
c.*500C>A (n.*500C>A)
 dbSNP
14g.94378505_94378506delinsGTCA2155953391SERPINA1c.1200_1201delinsAC (p.Glu400=)
c.*499_*500delinsAC (n.*499_*500delinsAC)
14g.94378506T>ACA390847475SERPINA1c.1200A>T (p.Glu400Asp)
c.*499A>T (n.*499A>T)
14g.94378506T>CCA487621111SERPINA1c.1200A>G (p.Glu400=)
c.*499A>G (n.*499A>G)
 dbSNP
14g.94378506T>GCA127624SERPINA1c.1200A>C (p.Glu400Asp)
c.*499A>C (n.*499A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378506T=CA2155953392SERPINA1c.1200A= (p.Glu400=)
c.*499A= (n.*499A=)
14g.94378507delCA265860608SERPINA1c.1200del (p.Glu400AspfsTer14)
c.*499del (n.*499del)
 dbSNP
14g.94378506_94378507insGCA616114973SERPINA1c.1199_1200insC (p.Glu400AspfsTer?)
c.*498_*499insC (n.*498_*499insC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378507T>ACA390847479SERPINA1c.1199A>T (p.Glu400Val)
c.*498A>T (n.*498A>T)
14g.94378507T>CCA390847482SERPINA1c.1199A>G (p.Glu400Gly)
c.*498A>G (n.*498A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.94378507T>GCA390847484SERPINA1c.1199A>C (p.Glu400Ala)
c.*498A>C (n.*498A>C)
 gnomAD v4
14g.94378507T=CA2155953393SERPINA1c.1199A= (p.Glu400=)
c.*498A= (n.*498A=)
14g.94378508C>ACA390847487SERPINA1c.1198G>T (p.Glu400Ter)
c.*497G>T (n.*497G>T)
14g.94378508C>GCA390847489SERPINA1c.1198G>C (p.Glu400Gln)
c.*497G>C (n.*497G>C)
14g.94378508C>TCA390847491SERPINA1c.1198G>A (p.Glu400Lys)
c.*497G>A (n.*497G>A)
 gnomAD v4
14g.94378509A>CCA390847492SERPINA1c.1197T>G (p.Ile399Met)
c.*496T>G (n.*496T>G)
14g.94378509A>GCA487621112SERPINA1c.1197T>C (p.Ile399=)
c.*496T>C (n.*496T>C)
 gnomAD v4
14g.94378509A>TCA487621113SERPINA1c.1197T>A (p.Ile399=)
c.*496T>A (n.*496T>A)
14g.94378510A=CA2155953394SERPINA1c.1196T= (p.Ile399=)
c.*495T= (n.*495T=)
14g.94378510A>CCA390847494SERPINA1c.1196T>G (p.Ile399Ser)
c.*495T>G (n.*495T>G)
14g.94378510A>GCA7327253SERPINA1c.1196T>C (p.Ile399Thr)
c.*495T>C (n.*495T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94378510A>TCA390847497SERPINA1c.1196T>A (p.Ile399Asn)
c.*495T>A (n.*495T>A)
14g.94378511T>ACA390847504SERPINA1c.1195A>T (p.Ile399Phe)
c.*494A>T (n.*494A>T)
14g.94378511T>CCA265860611SERPINA1c.1195A>G (p.Ile399Val)
c.*494A>G (n.*494A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94378511T>GCA390847502SERPINA1c.1195A>C (p.Ile399Leu)
c.*494A>C (n.*494A>C)
14g.94378511T=CA2155953395SERPINA1c.1195A= (p.Ile399=)
c.*494A= (n.*494A=)
14g.94378512_94378515delCA2695219653SERPINA1c.1192_1195del (p.Met398LeufsTer15)
c.*491_*494del (n.*491_*494del)
14g.94378512C>ACA390847507SERPINA1c.1194G>T (p.Met398Ile)
c.*493G>T (n.*493G>T)
14g.94378512C=CA2155953396SERPINA1c.1194G= (p.Met398=)
c.*493G= (n.*493G=)
14g.94378512C>GCA390847509SERPINA1c.1194G>C (p.Met398Ile)
c.*493G>C (n.*493G>C)
 dbSNP gnomAD v3 gnomAD v4
14g.94378512C>TCA390847511SERPINA1c.1194G>A (p.Met398Ile)
c.*493G>A (n.*493G>A)
 gnomAD v4 COSMIC
14g.94378513A>CCA390847514SERPINA1c.1193T>G (p.Met398Arg)
c.*492T>G (n.*492T>G)
14g.94378513A>GCA390847517SERPINA1c.1193T>C (p.Met398Thr)
c.*492T>C (n.*492T>C)
14g.94378513A>TCA390847519SERPINA1c.1193T>A (p.Met398Lys)
c.*492T>A (n.*492T>A)
14g.94378514T>ACA390847522SERPINA1c.1192A>T (p.Met398Leu)
c.*491A>T (n.*491A>T)
14g.94378514T>CCA390847524SERPINA1c.1192A>G (p.Met398Val)
c.*491A>G (n.*491A>G)
14g.94378514T>GCA390847526SERPINA1c.1192A>C (p.Met398Leu)
c.*491A>C (n.*491A>C)
14g.94378515T>ACA390847529SERPINA1c.1191A>T (p.Leu397Phe)
c.*490A>T (n.*490A>T)
14g.94378515T>CCA487621114SERPINA1c.1191A>G (p.Leu397=)
c.*490A>G (n.*490A>G)
 dbSNP gnomAD v2
14g.94378515T>GCA390847531SERPINA1c.1191A>C (p.Leu397Phe)
c.*490A>C (n.*490A>C)
14g.94378515T=CA2155953397SERPINA1c.1191A= (p.Leu397=)
c.*490A= (n.*490A=)

Number of alleles fetched