Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382932delCA2730054620SERPINA1c.308del (p.Gly103AlafsTer2)
c.50del (p.Gly17AlafsTer2)
 dbSNP
14g.94382932C>ACA390850350SERPINA1c.306G>T (p.Glu102Asp)
c.48G>T (p.Glu16Asp)
14g.94382932C>GCA390850351SERPINA1c.306G>C (p.Glu102Asp)
c.48G>C (p.Glu16Asp)
14g.94382932C>TCA487841303SERPINA1c.306G>A (p.Glu102=)
c.48G>A (p.Glu16=)
 gnomAD v4
14g.94382933T>ACA390850352SERPINA1c.305A>T (p.Glu102Val)
c.47A>T (p.Glu16Val)
 dbSNP
14g.94382933T>CCA390850353SERPINA1c.305A>G (p.Glu102Gly)
c.47A>G (p.Glu16Gly)
 gnomAD v4
14g.94382933T>GCA390850354SERPINA1c.305A>C (p.Glu102Ala)
c.47A>C (p.Glu16Ala)
14g.94382933T=CA2155954847SERPINA1c.305A= (p.Glu102=)
c.47A= (p.Glu16=)
14g.94382934C>ACA390850355SERPINA1c.304G>T (p.Glu102Ter)
c.46G>T (p.Glu16Ter)
14g.94382934C=CA2155954848SERPINA1c.304G= (p.Glu102=)
c.46G= (p.Glu16=)
14g.94382934C>GCA390850356SERPINA1c.304G>C (p.Glu102Gln)
c.46G>C (p.Glu16Gln)
14g.94382934C>TCA390850357SERPINA1c.304G>A (p.Glu102Lys)
c.46G>A (p.Glu16Lys)
 dbSNP gnomAD v2 gnomAD v4
14g.94382935C>ACA487841308SERPINA1c.303G>T (p.Leu101=)
c.45G>T (p.Leu15=)
14g.94382935C>GCA487841310SERPINA1c.303G>C (p.Leu101=)
c.45G>C (p.Leu15=)
14g.94382935C>TCA487841311SERPINA1c.303G>A (p.Leu101=)
c.45G>A (p.Leu15=)
 dbSNP
14g.94382936A>CCA390850360SERPINA1c.302T>G (p.Leu101Arg)
c.44T>G (p.Leu15Arg)
14g.94382936A>GCA390850359SERPINA1c.302T>C (p.Leu101Pro)
c.44T>C (p.Leu15Pro)
14g.94382936A>TCA390850358SERPINA1c.302T>A (p.Leu101Gln)
c.44T>A (p.Leu15Gln)
14g.94382937G>ACA487841313SERPINA1c.301C>T (p.Leu101=)
c.43C>T (p.Leu15=)
 gnomAD v4
14g.94382937G>CCA390850361SERPINA1c.301C>G (p.Leu101Val)
c.43C>G (p.Leu15Val)
14g.94382937G>TCA390850362SERPINA1c.301C>A (p.Leu101Met)
c.43C>A (p.Leu15Met)
14g.94382938G>ACA487841316SERPINA1c.300C>T (p.Ile100=)
c.42C>T (p.Ile14=)
14g.94382938G>CCA390850363SERPINA1c.300C>G (p.Ile100Met)
c.42C>G (p.Ile14Met)
14g.94382938G>TCA487841319SERPINA1c.300C>A (p.Ile100=)
c.42C>A (p.Ile14=)
14g.94382939A=CA2155954849SERPINA1c.299T= (p.Ile100=)
c.41T= (p.Ile14=)
14g.94382939A>CCA390850364SERPINA1c.299T>G (p.Ile100Ser)
c.41T>G (p.Ile14Ser)
14g.94382939A>GCA390850365SERPINA1c.299T>C (p.Ile100Thr)
c.41T>C (p.Ile14Thr)
14g.94382939A>TCA390850366SERPINA1c.299T>A (p.Ile100Asn)
c.41T>A (p.Ile14Asn)
 ClinVar dbSNP gnomAD v4
14g.94382940T>ACA390850367SERPINA1c.298A>T (p.Ile100Phe)
c.40A>T (p.Ile14Phe)
14g.94382940T>CCA390850368SERPINA1c.298A>G (p.Ile100Val)
c.40A>G (p.Ile14Val)
 gnomAD v4
14g.94382940T>GCA390850369SERPINA1c.298A>C (p.Ile100Leu)
c.40A>C (p.Ile14Leu)
14g.94382941T>ACA390850370SERPINA1c.297A>T (p.Glu99Asp)
c.39A>T (p.Glu13Asp)
 dbSNP gnomAD v4
14g.94382941T>CCA487841324SERPINA1c.297A>G (p.Glu99=)
c.39A>G (p.Glu13=)
14g.94382941T>GCA390850371SERPINA1c.297A>C (p.Glu99Asp)
c.39A>C (p.Glu13Asp)
 ClinVar dbSNP
14g.94382941T=CA2155954850SERPINA1c.297A= (p.Glu99=)
c.39A= (p.Glu13=)
14g.94382942T>ACA390850374SERPINA1c.296A>T (p.Glu99Val)
c.38A>T (p.Glu13Val)
14g.94382942T>CCA390850373SERPINA1c.296A>G (p.Glu99Gly)
c.38A>G (p.Glu13Gly)
14g.94382942T>GCA390850372SERPINA1c.296A>C (p.Glu99Ala)
c.38A>C (p.Glu13Ala)
14g.94382943C>ACA390850375SERPINA1c.295G>T (p.Glu99Ter)
c.37G>T (p.Glu13Ter)
14g.94382943C>GCA390850377SERPINA1c.295G>C (p.Glu99Gln)
c.37G>C (p.Glu13Gln)
14g.94382943C>TCA390850376SERPINA1c.295G>A (p.Glu99Lys)
c.37G>A (p.Glu13Lys)
 dbSNP
14g.94382943_94382944insCACCAACACCCACCAAACACACCCAACCCA2802663977SERPINA1c.295_296insGTTGGGTGTGTTTGGTGGGTGTTGGTGG (p.Glu99GlyfsTer29)
c.37_38insGTTGGGTGTGTTTGGTGGGTGTTGGTGG (p.Glu13GlyfsTer29)
c.295_296insGTTGGGTGTGTTTGGTGGGTGTTGGTGG (p.Glu99GlyfsTer?)
14g.94382944A>CCA390850378SERPINA1c.294T>G (p.Asp98Glu)
c.36T>G (p.Asp12Glu)
14g.94382944A>GCA487841329SERPINA1c.294T>C (p.Asp98=)
c.36T>C (p.Asp12=)
 ClinVar
14g.94382944A>TCA390850379SERPINA1c.294T>A (p.Asp98Glu)
c.36T>A (p.Asp12Glu)
14g.94382945T>ACA390850380SERPINA1c.293A>T (p.Asp98Val)
c.35A>T (p.Asp12Val)
 dbSNP
14g.94382945T>CCA390850382SERPINA1c.293A>G (p.Asp98Gly)
c.35A>G (p.Asp12Gly)
 gnomAD v4
14g.94382945T>GCA390850381SERPINA1c.293A>C (p.Asp98Ala)
c.35A>C (p.Asp12Ala)
14g.94382945T=CA2155954851SERPINA1c.293A= (p.Asp98=)
c.35A= (p.Asp12=)
14g.94382946C>ACA390850383SERPINA1c.292G>T (p.Asp98Tyr)
c.34G>T (p.Asp12Tyr)
14g.94382946C=CA2155954852SERPINA1c.292G= (p.Asp98=)
c.34G= (p.Asp12=)
14g.94382946C>GCA390850384SERPINA1c.292G>C (p.Asp98His)
c.34G>C (p.Asp12His)
14g.94382946C>TCA265864162SERPINA1c.292G>A (p.Asp98Asn)
c.34G>A (p.Asp12Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94382946_94382950delinsCGTGACA2155954853SERPINA1c.288_292delinsTCACG (p.Thr96=)
c.30_34delinsTCACG (p.Thr10=)
14g.94382947G>ACA7327517SERPINA1c.291C>T (p.His97=)
c.33C>T (p.His11=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382947G>CCA265864165SERPINA1c.291C>G (p.His97Gln)
c.33C>G (p.His11Gln)
 dbSNP gnomAD v4
14g.94382947G=CA2155954854SERPINA1c.291C= (p.His97=)
c.33C= (p.His11=)
14g.94382947G>TCA265864167SERPINA1c.291C>A (p.His97Gln)
c.33C>A (p.His11Gln)
 dbSNP gnomAD v4
14g.94382950_94382953delCA16040627SERPINA1c.288_291del (p.His97MetfsTer7)
c.30_33del (p.His11MetfsTer7)
 ClinVar dbSNP
14g.94382948T>ACA390850385SERPINA1c.290A>T (p.His97Leu)
c.32A>T (p.His11Leu)
14g.94382948T>CCA390850386SERPINA1c.290A>G (p.His97Arg)
c.32A>G (p.His11Arg)
14g.94382948T>GCA390850387SERPINA1c.290A>C (p.His97Pro)
c.32A>C (p.His11Pro)
14g.94382948dupCA2155954855SERPINA1c.290dup (p.His97GlnfsTer3)
c.32dup (p.His11GlnfsTer3)
 dbSNP
14g.94382949G>ACA390850388SERPINA1c.289C>T (p.His97Tyr)
c.31C>T (p.His11Tyr)
14g.94382949G>CCA390850389SERPINA1c.289C>G (p.His97Asp)
c.31C>G (p.His11Asp)
14g.94382949G>TCA390850390SERPINA1c.289C>A (p.His97Asn)
c.31C>A (p.His11Asn)
14g.94382950A=CA2155954856SERPINA1c.288T= (p.Thr96=)
c.30T= (p.Thr10=)
14g.94382950A>CCA487841341SERPINA1c.288T>G (p.Thr96=)
c.30T>G (p.Thr10=)
14g.94382950A>GCA487841342SERPINA1c.288T>C (p.Thr96=)
c.30T>C (p.Thr10=)
 dbSNP gnomAD v3 gnomAD v4
14g.94382950A>TCA487841343SERPINA1c.288T>A (p.Thr96=)
c.30T>A (p.Thr10=)
14g.94382951G>ACA390850393SERPINA1c.287C>T (p.Thr96Ile)
c.29C>T (p.Thr10Ile)
 dbSNP COSMIC
14g.94382951G>CCA390850392SERPINA1c.287C>G (p.Thr96Ser)
c.29C>G (p.Thr10Ser)
14g.94382951G=CA2155954857SERPINA1c.287C= (p.Thr96=)
c.29C= (p.Thr10=)
14g.94382951G>TCA390850391SERPINA1c.287C>A (p.Thr96Asn)
c.29C>A (p.Thr10Asn)
 gnomAD v4
14g.94382953_94382954dupCA2695219662SERPINA1c.286_287dup (p.His97LeufsTer9)
c.28_29dup (p.His11LeufsTer9)
14g.94382952T>ACA390850394SERPINA1c.286A>T (p.Thr96Ser)
c.28A>T (p.Thr10Ser)
14g.94382952T>CCA7327518SERPINA1c.286A>G (p.Thr96Ala)
c.28A>G (p.Thr10Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382952T>GCA390850395SERPINA1c.286A>C (p.Thr96Pro)
c.28A>C (p.Thr10Pro)
14g.94382952T=CA2155954858SERPINA1c.286A= (p.Thr96=)
c.28A= (p.Thr10=)
14g.94382953G>ACA487841348SERPINA1c.285C>T (p.Asp95=)
c.27C>T (p.Asp9=)
 dbSNP gnomAD v3 gnomAD v4
14g.94382953G>CCA390850396SERPINA1c.285C>G (p.Asp95Glu)
c.27C>G (p.Asp9Glu)
14g.94382953G=CA2155954859SERPINA1c.285C= (p.Asp95=)
c.27C= (p.Asp9=)
14g.94382953G>TCA265864168SERPINA1c.285C>A (p.Asp95Glu)
c.27C>A (p.Asp9Glu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
14g.94382954T>ACA390850397SERPINA1c.284A>T (p.Asp95Val)
c.26A>T (p.Asp9Val)
14g.94382954T>CCA390850398SERPINA1c.284A>G (p.Asp95Gly)
c.26A>G (p.Asp9Gly)
14g.94382954T>GCA390850399SERPINA1c.284A>C (p.Asp95Ala)
c.26A>C (p.Asp9Ala)
14g.94382955C>ACA390850400SERPINA1c.283G>T (p.Asp95Tyr)
c.25G>T (p.Asp9Tyr)
14g.94382955C=CA2155954860SERPINA1c.283G= (p.Asp95=)
c.25G= (p.Asp9=)
14g.94382955C>GCA390850401SERPINA1c.283G>C (p.Asp95His)
c.25G>C (p.Asp9His)
14g.94382955C>TCA390850402SERPINA1c.283G>A (p.Asp95Asn)
c.25G>A (p.Asp9Asn)
 dbSNP gnomAD v2 gnomAD v4
14g.94382956A>CCA487841352SERPINA1c.282T>G (p.Ala94=)
c.24T>G (p.Ala8=)
14g.94382956A>GCA487841353SERPINA1c.282T>C (p.Ala94=)
c.24T>C (p.Ala8=)
14g.94382956A>TCA487841354SERPINA1c.282T>A (p.Ala94=)
c.24T>A (p.Ala8=)
14g.94382957G>ACA390850405SERPINA1c.281C>T (p.Ala94Val)
c.23C>T (p.Ala8Val)
14g.94382957G>CCA390850404SERPINA1c.281C>G (p.Ala94Gly)
c.23C>G (p.Ala8Gly)
 dbSNP
14g.94382957G=CA2155954861SERPINA1c.281C= (p.Ala94=)
c.23C= (p.Ala8=)
14g.94382957G>TCA390850403SERPINA1c.281C>A (p.Ala94Asp)
c.23C>A (p.Ala8Asp)
14g.94382958C>ACA390850406SERPINA1c.280G>T (p.Ala94Ser)
c.22G>T (p.Ala8Ser)
 gnomAD v4
14g.94382958C=CA2155954862SERPINA1c.280G= (p.Ala94=)
c.22G= (p.Ala8=)
14g.94382958C>GCA390850407SERPINA1c.280G>C (p.Ala94Pro)
c.22G>C (p.Ala8Pro)
14g.94382958C>TCA390850408SERPINA1c.280G>A (p.Ala94Thr)
c.22G>A (p.Ala8Thr)
 dbSNP
14g.94382959C>ACA390850409SERPINA1c.279G>T (p.Lys93Asn)
c.21G>T (p.Lys7Asn)
14g.94382959C>GCA390850410SERPINA1c.279G>C (p.Lys93Asn)
c.21G>C (p.Lys7Asn)
14g.94382959C>TCA487841359SERPINA1c.279G>A (p.Lys93=)
c.21G>A (p.Lys7=)
 ClinVar
14g.94382960T>ACA390850411SERPINA1c.278A>T (p.Lys93Met)
c.278A>T
c.20A>T (p.Lys7Met)
14g.94382960T>CCA390850412SERPINA1c.278A>G (p.Lys93Arg)
c.278A>G
c.20A>G (p.Lys7Arg)
14g.94382960T>GCA390850413SERPINA1c.278A>C (p.Lys93Thr)
c.278A>C
c.20A>C (p.Lys7Thr)
14g.94382961T>ACA390850414SERPINA1c.277A>T (p.Lys93Ter)
c.277A>T
c.19A>T (p.Lys7Ter)
14g.94382961T>CCA390850415SERPINA1c.277A>G (p.Lys93Glu)
c.277A>G
c.19A>G (p.Lys7Glu)
14g.94382961T>GCA390850416SERPINA1c.277A>C (p.Lys93Gln)
c.277A>C
c.19A>C (p.Lys7Gln)
14g.94382962G>ACA487841366SERPINA1c.276C>T (p.Thr92=)
c.18C>T (p.Thr6=)
14g.94382962G>CCA487841367SERPINA1c.276C>G (p.Thr92=)
c.18C>G (p.Thr6=)
 dbSNP gnomAD v2
14g.94382962G=CA2155954863SERPINA1c.276C= (p.Thr92=)
c.18C= (p.Thr6=)
14g.94382962G>TCA487841368SERPINA1c.276C>A (p.Thr92=)
c.18C>A (p.Thr6=)
14g.94382963G>ACA390850419SERPINA1c.275C>T (p.Thr92Ile)
c.17C>T (p.Thr6Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382963G>CCA390850418SERPINA1c.275C>G (p.Thr92Ser)
c.17C>G (p.Thr6Ser)
 dbSNP
14g.94382963G=CA2155954864SERPINA1c.275C= (p.Thr92=)
c.17C= (p.Thr6=)
14g.94382963G>TCA390850417SERPINA1c.275C>A (p.Thr92Asn)
c.17C>A (p.Thr6Asn)
14g.94382964T>ACA390850420SERPINA1c.274A>T (p.Thr92Ser)
c.16A>T (p.Thr6Ser)
14g.94382964T>CCA390850421SERPINA1c.274A>G (p.Thr92Ala)
c.16A>G (p.Thr6Ala)
14g.94382964T>GCA390850422SERPINA1c.274A>C (p.Thr92Pro)
c.16A>C (p.Thr6Pro)
14g.94382965C>ACA487841372SERPINA1c.273G>T (p.Gly91=)
c.15G>T (p.Gly5=)
14g.94382965C=CA2155954865SERPINA1c.273G= (p.Gly91=)
c.15G= (p.Gly5=)
14g.94382965C>GCA7327519SERPINA1c.273G>C (p.Gly91=)
c.15G>C (p.Gly5=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382965C>TCA487841373SERPINA1c.273G>A (p.Gly91=)
c.15G>A (p.Gly5=)
 dbSNP gnomAD v4
14g.94382968delCA2695219695SERPINA1c.273del (p.Thr92ProfsTer13)
c.273del (p.Thr92ProfsTer?)
c.15del (p.Thr6ProfsTer13)
14g.94382966C>ACA390850423SERPINA1c.272G>T (p.Gly91Val)
c.14G>T (p.Gly5Val)
14g.94382966C=CA2155954866SERPINA1c.272G= (p.Gly91=)
c.14G= (p.Gly5=)
14g.94382966C>GCA390850424SERPINA1c.272G>C (p.Gly91Ala)
c.14G>C (p.Gly5Ala)
14g.94382966C>TCA127674SERPINA1c.272G>A (p.Gly91Glu)
c.14G>A (p.Gly5Glu)
 ClinVar dbSNP
14g.94382967C>ACA390850425SERPINA1c.271G>T (p.Gly91Trp)
c.13G>T (p.Gly5Trp)
14g.94382967C>GCA390850426SERPINA1c.271G>C (p.Gly91Arg)
c.13G>C (p.Gly5Arg)
14g.94382967C>TCA390850427SERPINA1c.271G>A (p.Gly91Arg)
c.13G>A (p.Gly5Arg)
 COSMIC
14g.94382968C>ACA487841380SERPINA1c.270G>T (p.Leu90=)
c.12G>T (p.Leu4=)
14g.94382968C=CA2155954867SERPINA1c.270G= (p.Leu90=)
c.12G= (p.Leu4=)
14g.94382968C>GCA487841382SERPINA1c.270G>C (p.Leu90=)
c.12G>C (p.Leu4=)
14g.94382968C>TCA487841383SERPINA1c.270G>A (p.Leu90=)
c.12G>A (p.Leu4=)
 dbSNP
14g.94382969delCA2626310023SERPINA1c.269del (p.Leu90ArgfsTer15)
c.269del (p.Leu90ArgfsTer?)
c.11del (p.Leu4ArgfsTer15)
 gnomAD v4
14g.94382969A=CA2155954868SERPINA1c.269T= (p.Leu90=)
c.11T= (p.Leu4=)
14g.94382969A>CCA7327520SERPINA1c.269T>G (p.Leu90Arg)
c.11T>G (p.Leu4Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382969A>GCA390850428SERPINA1c.269T>C (p.Leu90Pro)
c.11T>C (p.Leu4Pro)
 dbSNP
14g.94382969A>TCA390850429SERPINA1c.269T>A (p.Leu90Gln)
c.11T>A (p.Leu4Gln)
14g.94382970G>ACA487841385SERPINA1c.268C>T (p.Leu90=)
c.10C>T (p.Leu4=)
14g.94382970G>CCA390850431SERPINA1c.268C>G (p.Leu90Val)
c.10C>G (p.Leu4Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382970G=CA2155954869SERPINA1c.268C= (p.Leu90=)
c.10C= (p.Leu4=)
14g.94382970G>TCA390850430SERPINA1c.268C>A (p.Leu90Met)
c.10C>A (p.Leu4Met)
 COSMIC
14g.94382971G>ACA487841386SERPINA1c.267C>T (p.Ser89=)
c.9C>T (p.Ser3=)
 gnomAD v4 COSMIC
14g.94382971G>CCA487841387SERPINA1c.267C>G (p.Ser89=)
c.9C>G (p.Ser3=)
14g.94382971G>TCA487841388SERPINA1c.267C>A (p.Ser89=)
c.9C>A (p.Ser3=)
14g.94382972G>ACA390850432SERPINA1c.266C>T (p.Ser89Phe)
c.8C>T (p.Ser3Phe)
 gnomAD v4 COSMIC
14g.94382972G>CCA390850434SERPINA1c.266C>G (p.Ser89Cys)
c.8C>G (p.Ser3Cys)
14g.94382972G>TCA390850433SERPINA1c.266C>A (p.Ser89Tyr)
c.8C>A (p.Ser3Tyr)
14g.94382973A>CCA390850435SERPINA1c.265T>G (p.Ser89Ala)
c.7T>G (p.Ser3Ala)
14g.94382973A>GCA390850436SERPINA1c.265T>C (p.Ser89Pro)
c.7T>C (p.Ser3Pro)
14g.94382973A>TCA390850437SERPINA1c.265T>A (p.Ser89Thr)
c.7T>A (p.Ser3Thr)
14g.94382974G>ACA487841395SERPINA1c.264C>T (p.Leu88=)
c.6C>T (p.Leu2=)
 gnomAD v4
14g.94382974G>CCA487841393SERPINA1c.264C>G (p.Leu88=)
c.6C>G (p.Leu2=)
14g.94382974G>TCA487841394SERPINA1c.264C>A (p.Leu88=)
c.6C>A (p.Leu2=)
14g.94382975A>CCA390850438SERPINA1c.263T>G (p.Leu88Arg)
c.5T>G (p.Leu2Arg)
14g.94382975A>GCA390850439SERPINA1c.263T>C (p.Leu88Pro)
c.5T>C (p.Leu2Pro)
14g.94382975A>TCA390850440SERPINA1c.263T>A (p.Leu88His)
c.5T>A (p.Leu2His)
14g.94382976G>ACA390850441SERPINA1c.262C>T (p.Leu88Phe)
c.4C>T (p.Leu2Phe)
 dbSNP gnomAD v4
14g.94382976G>CCA390850442SERPINA1c.262C>G (p.Leu88Val)
c.4C>G (p.Leu2Val)
 dbSNP gnomAD v2 gnomAD v4
14g.94382976G=CA2155954870SERPINA1c.262C= (p.Leu88=)
c.4C= (p.Leu2=)
14g.94382976G>TCA390850443SERPINA1c.262C>A (p.Leu88Ile)
c.4C>A (p.Leu2Ile)
14g.94382977C>ACA390850444SERPINA1c.261G>T (p.Met87Ile)
c.3G>T (p.Met1Ile)
14g.94382977C>GCA390850445SERPINA1c.261G>C (p.Met87Ile)
c.3G>C (p.Met1Ile)
14g.94382977C>TCA390850446SERPINA1c.261G>A (p.Met87Ile)
c.3G>A (p.Met1Ile)
14g.94382978A>CCA390850449SERPINA1c.260T>G (p.Met87Arg)
c.2T>G (p.Met1Arg)
14g.94382978A>GCA390850447SERPINA1c.260T>C (p.Met87Thr)
c.2T>C (p.Met1Thr)
 gnomAD v4
14g.94382978A>TCA390850448SERPINA1c.260T>A (p.Met87Lys)
c.2T>A (p.Met1Lys)
14g.94382979T>ACA390850450SERPINA1c.259A>T (p.Met87Leu)
c.1A>T (p.Met1Leu)
14g.94382979T>CCA390850451SERPINA1c.259A>G (p.Met87Val)
c.1A>G (p.Met1Val)
14g.94382979T>GCA390850452SERPINA1c.259A>C (p.Met87Leu)
c.1A>C (p.Met1Leu)
14g.94382980T>ACA487841408SERPINA1c.258A>T (p.Ala86=)
c.-1A>T (n.-1A>T)
 dbSNP
14g.94382980T>CCA487841409SERPINA1c.258A>G (p.Ala86=)
c.-1A>G (n.-1A>G)
14g.94382980T>GCA487841410SERPINA1c.258A>C (p.Ala86=)
c.-1A>C (n.-1A>C)
14g.94382980T=CA2155954871SERPINA1c.258A= (p.Ala86=)
c.-1A= (n.-1A=)
14g.94382981G>ACA390850453SERPINA1c.257C>T (p.Ala86Val)
c.-2C>T (n.-2C>T)
14g.94382981G>CCA390850454SERPINA1c.257C>G (p.Ala86Gly)
c.-2C>G (n.-2C>G)
14g.94382981G>TCA390850455SERPINA1c.257C>A (p.Ala86Glu)
c.-2C>A (n.-2C>A)
14g.94382981_94382988dupCA2582341765SERPINA1c.250_257dup (p.Met87ProfsTer21)
c.250_257dup (p.Met87ProfsTer?)
c.-9_-2dup (n.-9_-2dup)
 ClinVar
14g.94382982C>ACA390850456SERPINA1c.256G>T (p.Ala86Ser)
c.-3G>T (n.-3G>T)
 gnomAD v4
14g.94382982C>GCA390850457SERPINA1c.256G>C (p.Ala86Pro)
c.-3G>C (n.-3G>C)
14g.94382982C>TCA390850458SERPINA1c.256G>A (p.Ala86Thr)
c.-3G>A (n.-3G>A)
14g.94382983A>CCA390850459SERPINA1c.255T>G (p.Phe85Leu)
c.-4T>G (n.-4T>G)
14g.94382983A>GCA487841414SERPINA1c.255T>C (p.Phe85=)
c.-4T>C (n.-4T>C)
14g.94382983A>TCA390850460SERPINA1c.255T>A (p.Phe85Leu)
c.-4T>A (n.-4T>A)
14g.94382984A=CA2155954872SERPINA1c.254T= (p.Phe85=)
c.-5T= (n.-5T=)
14g.94382984A>CCA390850463SERPINA1c.254T>G (p.Phe85Cys)
c.-5T>G (n.-5T>G)
14g.94382984A>GCA390850462SERPINA1c.254T>C (p.Phe85Ser)
c.-5T>C (n.-5T>C)
 dbSNP gnomAD v2 gnomAD v4
14g.94382984A>TCA390850461SERPINA1c.254T>A (p.Phe85Tyr)
c.-5T>A (n.-5T>A)
14g.94382985A>CCA390850464SERPINA1c.253T>G (p.Phe85Val)
c.-6T>G (n.-6T>G)
14g.94382985A>GCA390850465SERPINA1c.253T>C (p.Phe85Leu)
c.-6T>C (n.-6T>C)
14g.94382985A>TCA390850466SERPINA1c.253T>A (p.Phe85Ile)
c.-6T>A (n.-6T>A)
14g.94382986G>ACA487841426SERPINA1c.252C>T (p.Ala84=)
c.-7C>T (n.-7C>T)
 gnomAD v4
14g.94382986G>CCA487841427SERPINA1c.252C>G (p.Ala84=)
c.-7C>G (n.-7C>G)
14g.94382986G>TCA487841428SERPINA1c.252C>A (p.Ala84=)
c.-7C>A (n.-7C>A)
14g.94382987G>ACA390850467SERPINA1c.251C>T (p.Ala84Val)
c.-8C>T (n.-8C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.94382987G>CCA390850468SERPINA1c.251C>G (p.Ala84Gly)
c.-8C>G (n.-8C>G)
14g.94382987G=CA2155954873SERPINA1c.251C= (p.Ala84=)
c.-8C= (n.-8C=)
14g.94382987G>TCA390850469SERPINA1c.251C>A (p.Ala84Asp)
c.-8C>A (n.-8C>A)
 gnomAD v4
14g.94382988C>ACA390850470SERPINA1c.250G>T (p.Ala84Ser)
c.-9G>T (n.-9G>T)
14g.94382988C=CA2155954874SERPINA1c.250G= (p.Ala84=)
c.-9G= (n.-9G=)
14g.94382988C>GCA390850471SERPINA1c.250G>C (p.Ala84Pro)
c.-9G>C (n.-9G>C)
14g.94382988C>TCA7327521SERPINA1c.250G>A (p.Ala84Thr)
c.-9G>A (n.-9G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382989T>ACA487841431SERPINA1c.249A>T (p.Thr83=)
c.-10A>T (n.-10A>T)
14g.94382989T>CCA487841432SERPINA1c.249A>G (p.Thr83=)
c.-10A>G (n.-10A>G)
 dbSNP
14g.94382989T>GCA487841434SERPINA1c.249A>C (p.Thr83=)
c.-10A>C (n.-10A>C)
14g.94382989T=CA2155954875SERPINA1c.249A= (p.Thr83=)
c.-10A= (n.-10A=)
14g.94382990G>ACA390850472SERPINA1c.248C>T (p.Thr83Ile)
c.-11C>T (n.-11C>T)
14g.94382990G>CCA390850473SERPINA1c.248C>G (p.Thr83Arg)
c.-11C>G (n.-11C>G)
 dbSNP gnomAD v2
14g.94382990G=CA2155954876SERPINA1c.248C= (p.Thr83=)
c.-11C= (n.-11C=)
14g.94382990G>TCA390850474SERPINA1c.248C>A (p.Thr83Lys)
c.-11C>A (n.-11C>A)
14g.94382991T>ACA390850477SERPINA1c.247A>T (p.Thr83Ser)
c.-12A>T (n.-12A>T)
14g.94382991T>CCA390850476SERPINA1c.247A>G (p.Thr83Ala)
c.-12A>G (n.-12A>G)
14g.94382991T>GCA390850475SERPINA1c.247A>C (p.Thr83Pro)
c.-12A>C (n.-12A>C)
14g.94382992A=CA2155954877SERPINA1c.246T= (p.Ala82=)
c.-13T= (n.-13T=)
14g.94382992A>CCA487841446SERPINA1c.246T>G (p.Ala82=)
c.-13T>G (n.-13T>G)
14g.94382992A>GCA487841447SERPINA1c.246T>C (p.Ala82=)
c.-13T>C (n.-13T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382992A>TCA487841448SERPINA1c.246T>A (p.Ala82=)
c.-13T>A (n.-13T>A)
14g.94382993G>ACA390850478SERPINA1c.245C>T (p.Ala82Val)
c.-14C>T (n.-14C>T)
 gnomAD v4
14g.94382993G>CCA390850479SERPINA1c.245C>G (p.Ala82Gly)
c.-14C>G (n.-14C>G)
14g.94382993G>TCA390850480SERPINA1c.245C>A (p.Ala82Asp)
c.-14C>A (n.-14C>A)
14g.94382994C>ACA390850481SERPINA1c.244G>T (p.Ala82Ser)
c.-15G>T (n.-15G>T)
14g.94382994C=CA2155954878SERPINA1c.244G= (p.Ala82=)
c.-15G= (n.-15G=)
14g.94382994C>GCA390850482SERPINA1c.244G>C (p.Ala82Pro)
c.-15G>C (n.-15G>C)
 ClinVar dbSNP
14g.94382994C>TCA7327522SERPINA1c.244G>A (p.Ala82Thr)
c.-15G>A (n.-15G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94382995G>ACA487841457SERPINA1c.243C>T (p.Ile81=)
c.-16C>T (n.-16C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.94382995G>CCA390850483SERPINA1c.243C>G (p.Ile81Met)
c.-16C>G (n.-16C>G)
14g.94382995G=CA2155954879SERPINA1c.243C= (p.Ile81=)
c.-16C= (n.-16C=)
14g.94382995G>TCA487841455SERPINA1c.243C>A (p.Ile81=)
c.-16C>A (n.-16C>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
14g.94382996A>CCA390850484SERPINA1c.242T>G (p.Ile81Ser)
c.-17T>G (n.-17T>G)
14g.94382996A>GCA390850485SERPINA1c.242T>C (p.Ile81Thr)
c.-17T>C (n.-17T>C)
14g.94382996A>TCA390850486SERPINA1c.242T>A (p.Ile81Asn)
c.-17T>A (n.-17T>A)
14g.94382997T>ACA390850487SERPINA1c.241A>T (p.Ile81Phe)
c.-18A>T (n.-18A>T)
14g.94382997T>CCA390850488SERPINA1c.241A>G (p.Ile81Val)
c.-18A>G (n.-18A>G)
 ClinVar dbSNP
14g.94382997T>GCA390850489SERPINA1c.241A>C (p.Ile81Leu)
c.-18A>C (n.-18A>C)
14g.94382997T=CA2155954880SERPINA1c.241A= (p.Ile81=)
c.-18A= (n.-18A=)
14g.94382998G>ACA487841465SERPINA1c.240C>T (p.Ser80=)
c.-19C>T (n.-19C>T)
 dbSNP
14g.94382998G>CCA390850490SERPINA1c.240C>G (p.Ser80Arg)
c.-19C>G (n.-19C>G)
14g.94382998G=CA2155954881SERPINA1c.240C= (p.Ser80=)
c.-19C= (n.-19C=)
14g.94382998G>TCA390850491SERPINA1c.240C>A (p.Ser80Arg)
c.-19C>A (n.-19C>A)
14g.94382999C>ACA390850492SERPINA1c.239G>T (p.Ser80Ile)
c.-20G>T (n.-20G>T)
14g.94382999C=CA2155954882SERPINA1c.239G= (p.Ser80=)
c.-20G= (n.-20G=)
14g.94382999C>GCA390850493SERPINA1c.239G>C (p.Ser80Thr)
c.-20G>C (n.-20G>C)
 gnomAD v4
14g.94382999C>TCA7327523SERPINA1c.239G>A (p.Ser80Asn)
c.-20G>A (n.-20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94383000T>ACA390850494SERPINA1c.238A>T (p.Ser80Cys)
c.-21A>T (n.-21A>T)
14g.94383000T>CCA390850496SERPINA1c.238A>G (p.Ser80Gly)
c.-21A>G (n.-21A>G)
14g.94383000T>GCA390850495SERPINA1c.238A>C (p.Ser80Arg)
c.-21A>C (n.-21A>C)
14g.94383001C>ACA487841475SERPINA1c.237G>T (p.Val79=)
c.-22G>T (n.-22G>T)
14g.94383001C>GCA487841477SERPINA1c.237G>C (p.Val79=)
c.-22G>C (n.-22G>C)
 gnomAD v4
14g.94383001C>TCA487841478SERPINA1c.237G>A (p.Val79=)
c.-22G>A (n.-22G>A)
 ClinVar gnomAD v4
14g.94383002A=CA2155954883SERPINA1c.236T= (p.Val79=)
c.-23T= (n.-23T=)
14g.94383002A>CCA390850497SERPINA1c.236T>G (p.Val79Gly)
c.-23T>G (n.-23T>G)
14g.94383002A>GCA390850498SERPINA1c.236T>C (p.Val79Ala)
c.-23T>C (n.-23T>C)
14g.94383002A>TCA349078SERPINA1c.236T>A (p.Val79Glu)
c.-23T>A (n.-23T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.94383003C>ACA390850499SERPINA1c.235G>T (p.Val79Leu)
c.-23-1G>T (n.-23-1G>T)
 dbSNP gnomAD v4
14g.94383003C=CA2155954884SERPINA1c.235G= (p.Val79=)
c.-23-1G= (n.-23-1G=)
14g.94383003C>GCA390850500SERPINA1c.235G>C (p.Val79Leu)
c.-23-1G>C (n.-23-1G>C)
 dbSNP gnomAD v4
14g.94383003C>TCA390850501SERPINA1c.235G>A (p.Val79Met)
c.-23-1G>A (n.-23-1G>A)
14g.94383004T>ACA487841139SERPINA1c.234A>T (p.Pro78=)
c.-23-2A>T (n.-23-2A>T)
14g.94383004T>CCA487841141SERPINA1c.234A>G (p.Pro78=)
c.-23-2A>G (n.-23-2A>G)
 dbSNP gnomAD v3 gnomAD v4
14g.94383004T>GCA487841143SERPINA1c.234A>C (p.Pro78=)
c.-23-2A>C (n.-23-2A>C)
14g.94383004T=CA2155954885SERPINA1c.234A= (p.Pro78=)
c.-23-2A= (n.-23-2A=)
14g.94383005G>ACA390850502SERPINA1c.233C>T (p.Pro78Leu)
c.-23-3C>T (n.-23-3C>T)
14g.94383005G>CCA390850503SERPINA1c.233C>G (p.Pro78Arg)
c.-23-3C>G (n.-23-3C>G)
14g.94383005G>TCA390850504SERPINA1c.233C>A (p.Pro78Gln)
c.-23-3C>A (n.-23-3C>A)
14g.94383006G>ACA390850505SERPINA1c.232C>T (p.Pro78Ser)
c.-23-4C>T (n.-23-4C>T)
14g.94383006G>CCA390850506SERPINA1c.232C>G (p.Pro78Ala)
c.-23-4C>G (n.-23-4C>G)
14g.94383006G>TCA390850507SERPINA1c.232C>A (p.Pro78Thr)
c.-23-4C>A (n.-23-4C>A)
14g.94383007G>ACA7327524SERPINA1c.231C>T (p.Ser77=)
c.-23-5C>T (n.-23-5C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94383007G>CCA487841145SERPINA1c.231C>G (p.Ser77=)
c.-23-5C>G (n.-23-5C>G)
14g.94383007G=CA2155954886SERPINA1c.231C= (p.Ser77=)
c.-23-5C= (n.-23-5C=)
14g.94383007G>TCA487841147SERPINA1c.231C>A (p.Ser77=)
c.-23-5C>A (n.-23-5C>A)
14g.94383008G>ACA127738SERPINA1c.230C>T (p.Ser77Phe)
c.-23-6C>T (n.-23-6C>T)
 ClinVar dbSNP gnomAD v4
14g.94383008G>CCA390850509SERPINA1c.230C>G (p.Ser77Cys)
c.-23-6C>G (n.-23-6C>G)
14g.94383008G=CA2155954887SERPINA1c.230C= (p.Ser77=)
c.-23-6C= (n.-23-6C=)
14g.94383008G>TCA390850508SERPINA1c.230C>A (p.Ser77Tyr)
c.-23-6C>A (n.-23-6C>A)
14g.94383008_94383011delinsGAGACA2155954888SERPINA1c.227_230delinsTCTC (p.Phe76=)
c.-23-9_-23-6delinsTCTC (n.-23-9_-23-6delinsTCTC)
14g.94383009A>CCA390850510SERPINA1c.229T>G (p.Ser77Ala)
c.-23-7T>G (n.-23-7T>G)
14g.94383009A>GCA390850511SERPINA1c.229T>C (p.Ser77Pro)
c.-23-7T>C (n.-23-7T>C)
14g.94383009A>TCA390850512SERPINA1c.229T>A (p.Ser77Thr)
c.-23-7T>A (n.-23-7T>A)
14g.94383015_94383017delCA347671SERPINA1c.227_229del (p.Phe76del)
c.-23-9_-23-7del (n.-23-9_-23-7del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94383010G>ACA487841151SERPINA1c.228C>T (p.Phe76=)
c.-23-8C>T (n.-23-8C>T)
14g.94383010G>CCA390850513SERPINA1c.228C>G (p.Phe76Leu)
c.-23-8C>G (n.-23-8C>G)
14g.94383010G>TCA390850514SERPINA1c.228C>A (p.Phe76Leu)
c.-23-8C>A (n.-23-8C>A)
14g.94383011A=CA2155954889SERPINA1c.227T= (p.Phe76=)
c.-23-9T= (n.-23-9T=)
14g.94383011A>CCA390850515SERPINA1c.227T>G (p.Phe76Cys)
c.-23-9T>G (n.-23-9T>G)
 gnomAD v4
14g.94383011A>GCA390850516SERPINA1c.227T>C (p.Phe76Ser)
c.-23-9T>C (n.-23-9T>C)
 ClinVar dbSNP gnomAD v4
14g.94383011A>TCA390850517SERPINA1c.227T>A (p.Phe76Tyr)
c.-23-9T>A (n.-23-9T>A)
14g.94383011_94383017delCA2626310091SERPINA1c.221_227del (p.Ile74ThrfsTer4)
c.-23-15_-23-9del (n.-23-15_-23-9del)
 gnomAD v4
14g.94383012A=CA2155954890SERPINA1c.226T= (p.Phe76=)
c.-23-10T= (n.-23-10T=)
14g.94383012A>CCA390850520SERPINA1c.226T>G (p.Phe76Val)
c.-23-10T>G (n.-23-10T>G)
14g.94383012A>GCA390850519SERPINA1c.226T>C (p.Phe76Leu)
c.-23-10T>C (n.-23-10T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94383012A>TCA390850518SERPINA1c.226T>A (p.Phe76Ile)
c.-23-10T>A (n.-23-10T>A)
14g.94383013delCA2526467078SERPINA1c.225del (p.Phe76SerfsTer4)
c.-23-11del (n.-23-11del)
14g.94383013G>ACA487841153SERPINA1c.225C>T (p.Phe75=)
c.-23-11C>T (n.-23-11C>T)
14g.94383013G>CCA390850521SERPINA1c.225C>G (p.Phe75Leu)
c.-23-11C>G (n.-23-11C>G)
14g.94383013G=CA2155954891SERPINA1c.225C= (p.Phe75=)
c.-23-11C= (n.-23-11C=)
14g.94383013G>TCA390850522SERPINA1c.225C>A (p.Phe75Leu)
c.-23-11C>A (n.-23-11C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94383014A=CA2155954892SERPINA1c.224T= (p.Phe75=)
c.-23-12T= (n.-23-12T=)
14g.94383014A>CCA390850523SERPINA1c.224T>G (p.Phe75Cys)
c.-23-12T>G (n.-23-12T>G)
14g.94383014A>GCA265864174SERPINA1c.224T>C (p.Phe75Ser)
c.-23-12T>C (n.-23-12T>C)
 dbSNP
14g.94383014A>TCA390850524SERPINA1c.224T>A (p.Phe75Tyr)
c.-23-12T>A (n.-23-12T>A)
14g.94383015A>CCA390850525SERPINA1c.223T>G (p.Phe75Val)
c.-23-13T>G (n.-23-13T>G)
14g.94383015A>GCA390850526SERPINA1c.223T>C (p.Phe75Leu)
c.-23-13T>C (n.-23-13T>C)
14g.94383015A>TCA390850527SERPINA1c.223T>A (p.Phe75Ile)
c.-23-13T>A (n.-23-13T>A)
 COSMIC
14g.94383016G>ACA487841156SERPINA1c.222C>T (p.Ile74=)
c.-23-14C>T (n.-23-14C>T)
14g.94383016G>CCA390850528SERPINA1c.222C>G (p.Ile74Met)
c.-23-14C>G (n.-23-14C>G)
14g.94383016G>TCA487841157SERPINA1c.222C>A (p.Ile74=)
c.-23-14C>A (n.-23-14C>A)
14g.94383017A=CA2155954893SERPINA1c.221T= (p.Ile74=)
c.-23-15T= (n.-23-15T=)
14g.94383017A>CCA390850529SERPINA1c.221T>G (p.Ile74Ser)
c.-23-15T>G (n.-23-15T>G)
14g.94383017A>GCA390850530SERPINA1c.221T>C (p.Ile74Thr)
c.-23-15T>C (n.-23-15T>C)
14g.94383017A>TCA390850531SERPINA1c.221T>A (p.Ile74Asn)
c.-23-15T>A (n.-23-15T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.94383018T>ACA390850534SERPINA1c.220A>T (p.Ile74Phe)
c.-23-16A>T (n.-23-16A>T)
14g.94383018T>CCA390850532SERPINA1c.220A>G (p.Ile74Val)
c.-23-16A>G (n.-23-16A>G)
14g.94383018T>GCA390850533SERPINA1c.220A>C (p.Ile74Leu)
c.-23-16A>C (n.-23-16A>C)
14g.94383019A>CCA390850535SERPINA1c.219T>G (p.Asn73Lys)
c.-23-17T>G (n.-23-17T>G)
14g.94383019A>GCA487841160SERPINA1c.219T>C (p.Asn73=)
c.-23-17T>C (n.-23-17T>C)
14g.94383019A>TCA390850536SERPINA1c.219T>A (p.Asn73Lys)
c.-23-17T>A (n.-23-17T>A)
14g.94383020T>ACA390850537SERPINA1c.218A>T (p.Asn73Ile)
c.-23-18A>T (n.-23-18A>T)
14g.94383020T>CCA390850538SERPINA1c.218A>G (p.Asn73Ser)
c.-23-18A>G (n.-23-18A>G)
14g.94383020T>GCA390850539SERPINA1c.218A>C (p.Asn73Thr)
c.-23-18A>C (n.-23-18A>C)
14g.94383020_94383021insACCCAGCA2626310099SERPINA1c.217_218insCTGGGT (p.Asn73delinsThrGlyTyr)
c.-23-19_-23-18insCTGGGT (n.-23-19_-23-18insCTGGGT)
 gnomAD v4
14g.94383021T>ACA390850540SERPINA1c.217A>T (p.Asn73Tyr)
c.-23-19A>T (n.-23-19A>T)
14g.94383021T>CCA390850541SERPINA1c.217A>G (p.Asn73Asp)
c.-23-19A>G (n.-23-19A>G)
14g.94383021T>GCA390850542SERPINA1c.217A>C (p.Asn73His)
c.-23-19A>C (n.-23-19A>C)
14g.94383022G>ACA487841163SERPINA1c.216C>T (p.Thr72=)
c.-23-20C>T (n.-23-20C>T)
14g.94383022G>CCA487841167SERPINA1c.216C>G (p.Thr72=)
c.-23-20C>G (n.-23-20C>G)
14g.94383022G>TCA487841164SERPINA1c.216C>A (p.Thr72=)
c.-23-20C>A (n.-23-20C>A)
14g.94383023delCA2695199863SERPINA1c.216del (p.Asn73IlefsTer7)
c.-23-20del (n.-23-20del)
 ClinVar
14g.94383023G>ACA390850543SERPINA1c.215C>T (p.Thr72Ile)
c.-23-21C>T (n.-23-21C>T)
 gnomAD v4
14g.94383023G>CCA390850544SERPINA1c.215C>G (p.Thr72Ser)
c.-23-21C>G (n.-23-21C>G)
 gnomAD v4
14g.94383023G>TCA390850545SERPINA1c.215C>A (p.Thr72Asn)
c.-23-21C>A (n.-23-21C>A)
14g.94383024T>ACA390850548SERPINA1c.214A>T (p.Thr72Ser)
c.-23-22A>T (n.-23-22A>T)
14g.94383024T>CCA390850547SERPINA1c.214A>G (p.Thr72Ala)
c.-23-22A>G (n.-23-22A>G)
 gnomAD v4
14g.94383024T>GCA390850546SERPINA1c.214A>C (p.Thr72Pro)
c.-23-22A>C (n.-23-22A>C)
14g.94383024_94383030delCA2626310102SERPINA1c.208_214del (p.Asn70ProfsTer8)
c.-23-28_-23-22del (n.-23-28_-23-22del)
 gnomAD v4
14g.94383025G>ACA487841173SERPINA1c.213C>T (p.Ser71=)
c.-23-23C>T (n.-23-23C>T)
 gnomAD v4
14g.94383025G>CCA390850549SERPINA1c.213C>G (p.Ser71Arg)
c.-23-23C>G (n.-23-23C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94383025G=CA2155954894SERPINA1c.213C= (p.Ser71=)
c.-23-23C= (n.-23-23C=)
14g.94383025G>TCA390850550SERPINA1c.213C>A (p.Ser71Arg)
c.-23-23C>A (n.-23-23C>A)
14g.94383026C>ACA390850551SERPINA1c.212G>T (p.Ser71Ile)
c.-23-24G>T (n.-23-24G>T)
14g.94383026C>GCA390850552SERPINA1c.212G>C (p.Ser71Thr)
c.-23-24G>C (n.-23-24G>C)
14g.94383026C>TCA390850553SERPINA1c.212G>A (p.Ser71Asn)
c.-23-24G>A (n.-23-24G>A)
 gnomAD v4
14g.94383027T>ACA390850554SERPINA1c.211A>T (p.Ser71Cys)
c.-23-25A>T (n.-23-25A>T)
14g.94383027T>CCA390850555SERPINA1c.211A>G (p.Ser71Gly)
c.-23-25A>G (n.-23-25A>G)
 gnomAD v4
14g.94383027T>GCA7327525SERPINA1c.211A>C (p.Ser71Arg)
c.-23-25A>C (n.-23-25A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94383027T=CA2155954895SERPINA1c.211A= (p.Ser71=)
c.-23-25A= (n.-23-25A=)
14g.94383028G>ACA487841175SERPINA1c.210C>T (p.Asn70=)
c.-23-26C>T (n.-23-26C>T)
 ClinVar
14g.94383028G>CCA390850557SERPINA1c.210C>G (p.Asn70Lys)
c.-23-26C>G (n.-23-26C>G)
14g.94383028G>TCA390850556SERPINA1c.210C>A (p.Asn70Lys)
c.-23-26C>A (n.-23-26C>A)
14g.94383029T>ACA390850558SERPINA1c.209A>T (p.Asn70Ile)
c.-23-27A>T (n.-23-27A>T)
14g.94383029T>CCA390850559SERPINA1c.209A>G (p.Asn70Ser)
c.-23-27A>G (n.-23-27A>G)
14g.94383029T>GCA390850560SERPINA1c.209A>C (p.Asn70Thr)
c.-23-27A>C (n.-23-27A>C)
14g.94383030T>ACA390850561SERPINA1c.208A>T (p.Asn70Tyr)
c.-23-28A>T (n.-23-28A>T)
14g.94383030T>CCA390850562SERPINA1c.208A>G (p.Asn70Asp)
c.-23-28A>G (n.-23-28A>G)
14g.94383030T>GCA390850563SERPINA1c.208A>C (p.Asn70His)
c.-23-28A>C (n.-23-28A>C)
14g.94383031G>ACA265864176SERPINA1c.207C>T (p.Ser69=)
c.-23-29C>T (n.-23-29C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94383031G>CCA487841179SERPINA1c.207C>G (p.Ser69=)
c.-23-29C>G (n.-23-29C>G)
14g.94383031G=CA2155954896SERPINA1c.207C= (p.Ser69=)
c.-23-29C= (n.-23-29C=)
14g.94383031G>TCA487841181SERPINA1c.207C>A (p.Ser69=)
c.-23-29C>A (n.-23-29C>A)
14g.94383032G>ACA7327526SERPINA1c.206C>T (p.Ser69Phe)
c.-23-30C>T (n.-23-30C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94383032G>CCA390850565SERPINA1c.206C>G (p.Ser69Cys)
c.-23-30C>G (n.-23-30C>G)
14g.94383032G=CA2155954897SERPINA1c.206C= (p.Ser69=)
c.-23-30C= (n.-23-30C=)
14g.94383032G>TCA390850564SERPINA1c.206C>A (p.Ser69Tyr)
c.-23-30C>A (n.-23-30C>A)
 dbSNP gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched