Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94619207T>ACA390855375SERPINA3c.656T>A (p.Met219Lys)
c.2T>A (p.Met1Lys)
c.1619T>A
n.58-3134T>A
c.644-3134T>A (n.644-3134T>A)
14g.94619207T>CCA390855377SERPINA3c.656T>C (p.Met219Thr)
c.2T>C (p.Met1Thr)
c.1619T>C
n.58-3134T>C
c.644-3134T>C (n.644-3134T>C)
14g.94619207T>GCA390855379SERPINA3c.656T>G (p.Met219Arg)
c.2T>G (p.Met1Arg)
c.1619T>G
n.58-3134T>G
c.644-3134T>G (n.644-3134T>G)
14g.94619208G>ACA265884733SERPINA3c.657G>A (p.Met219Ile)
c.3G>A (p.Met1Ile)
c.1620G>A
n.58-3133G>A
c.644-3133G>A (n.644-3133G>A)
 dbSNP gnomAD v4
14g.94619208G>CCA390855384SERPINA3c.657G>C (p.Met219Ile)
c.3G>C (p.Met1Ile)
c.1620G>C
n.58-3133G>C
c.644-3133G>C (n.644-3133G>C)
14g.94619208G=CA2156074033SERPINA3c.657G= (p.Met219=)
c.3G= (p.Met1=)
c.1620G=
n.58-3133G=
c.644-3133G= (n.644-3133G=)
14g.94619208G>TCA390855382SERPINA3c.657G>T (p.Met219Ile)
c.3G>T (p.Met1Ile)
c.1620G>T
n.58-3133G>T
c.644-3133G>T (n.644-3133G>T)
 gnomAD v4
14g.94619209C>ACA390855388SERPINA3c.658C>A (p.Pro220Thr)
c.4C>A (p.Pro2Thr)
c.1621C>A
n.58-3132C>A
c.644-3132C>A (n.644-3132C>A)
 gnomAD v4
14g.94619209C>GCA390855392SERPINA3c.658C>G (p.Pro220Ala)
c.4C>G (p.Pro2Ala)
c.1621C>G
n.58-3132C>G
c.644-3132C>G (n.644-3132C>G)
14g.94619209C>TCA390855389SERPINA3c.658C>T (p.Pro220Ser)
c.4C>T (p.Pro2Ser)
c.1621C>T
n.58-3132C>T
c.644-3132C>T (n.644-3132C>T)
14g.94619209_94619216delinsCCCTTTGACA2156074034SERPINA3c.658_665delinsCCCTTTGA (p.Pro220=)
c.4_11delinsCCCTTTGA (p.Pro2=)
c.1621_1628delinsCCCTTTGA
n.58-3132_58-3125delinsCCCTTTGA
c.644-3132_644-3125delinsCCCTTTGA (n.644-3132_644-3125delinsCCCTTTGA)
14g.94619210C>ACA390855396SERPINA3c.659C>A (p.Pro220His)
c.5C>A (p.Pro2His)
c.1622C>A
n.58-3131C>A
c.644-3131C>A (n.644-3131C>A)
 gnomAD v4
14g.94619210C=CA2156074035SERPINA3c.659C= (p.Pro220=)
c.5C= (p.Pro2=)
c.1622C=
n.58-3131C=
c.644-3131C= (n.644-3131C=)
14g.94619210C>GCA390855398SERPINA3c.659C>G (p.Pro220Arg)
c.5C>G (p.Pro2Arg)
c.1622C>G
n.58-3131C>G
c.644-3131C>G (n.644-3131C>G)
14g.94619210C>TCA7329857SERPINA3c.659C>T (p.Pro220Leu)
c.5C>T (p.Pro2Leu)
c.1622C>T
n.58-3131C>T
c.644-3131C>T (n.644-3131C>T)
 dbSNP ExAC gnomAD v2
14g.94619212_94619218delCA265884736SERPINA3c.661_667del (p.Phe221ProfsTer11)
c.7_13del (p.Phe3ProfsTer11)
c.1624_1630del
n.58-3129_58-3123del
c.644-3129_644-3123del (n.644-3129_644-3123del)
 dbSNP
14g.94619211C>ACA487625171SERPINA3c.660C>A (p.Pro220=)
c.6C>A (p.Pro2=)
c.1623C>A
n.58-3130C>A
c.644-3130C>A (n.644-3130C>A)
14g.94619211C=CA2156074036SERPINA3c.660C= (p.Pro220=)
c.6C= (p.Pro2=)
c.1623C=
n.58-3130C=
c.644-3130C= (n.644-3130C=)
14g.94619211C>GCA487625172SERPINA3c.660C>G (p.Pro220=)
c.6C>G (p.Pro2=)
c.1623C>G
n.58-3130C>G
c.644-3130C>G (n.644-3130C>G)
 dbSNP gnomAD v4
14g.94619211C>TCA265884748SERPINA3c.660C>T (p.Pro220=)
c.6C>T (p.Pro2=)
c.1623C>T
n.58-3130C>T
c.644-3130C>T (n.644-3130C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619211_94619212insCCCAAGACA7329858SERPINA3c.660_661insCCCAAGA (p.Phe221ProfsTer4)
c.6_7insCCCAAGA (p.Phe3ProfsTer4)
c.1623_1624insCCCAAGA
n.58-3130_58-3129insCCCAAGA
c.644-3130_644-3129insCCCAAGA (n.644-3130_644-3129insCCCAAGA)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619211_94619212insCCCAAGATACTCATCACA487625173SERPINA3c.660_661insCCCAAGATACTCATCA (p.Phe221ProfsTer7)
c.6_7insCCCAAGATACTCATCA (p.Phe3ProfsTer7)
c.1623_1624insCCCAAGATACTCATCA
n.58-3130_58-3129insCCCAAGATACTCATCA
c.644-3130_644-3129insCCCAAGATACTCATCA (n.644-3130_644-3129insCCCAAGATACTCATCA)
 dbSNP
14g.94619212T>ACA390855404SERPINA3c.661T>A (p.Phe221Ile)
c.7T>A (p.Phe3Ile)
c.1624T>A
n.58-3129T>A
c.644-3129T>A (n.644-3129T>A)
 dbSNP
14g.94619212T>CCA390855406SERPINA3c.661T>C (p.Phe221Leu)
c.7T>C (p.Phe3Leu)
c.1624T>C
n.58-3129T>C
c.644-3129T>C (n.644-3129T>C)
14g.94619212T>GCA390855408SERPINA3c.661T>G (p.Phe221Val)
c.7T>G (p.Phe3Val)
c.1624T>G
n.58-3129T>G
c.644-3129T>G (n.644-3129T>G)
 dbSNP
14g.94619212T=CA2156074037SERPINA3c.661T= (p.Phe221=)
c.7T= (p.Phe3=)
c.1624T=
n.58-3129T=
c.644-3129T= (n.644-3129T=)
14g.94619212_94619213insACCA7329859SERPINA3c.661_662insAC (p.Phe221TyrfsTer14)
c.7_8insAC (p.Phe3TyrfsTer14)
c.1624_1625insAC
n.58-3129_58-3128insAC
c.644-3129_644-3128insAC (n.644-3129_644-3128insAC)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619213T>ACA390855417SERPINA3c.662T>A (p.Phe221Tyr)
c.8T>A (p.Phe3Tyr)
c.1625T>A
n.58-3128T>A
c.644-3128T>A (n.644-3128T>A)
 dbSNP
14g.94619213T>CCA390855414SERPINA3c.662T>C (p.Phe221Ser)
c.8T>C (p.Phe3Ser)
c.1625T>C
n.58-3128T>C
c.644-3128T>C (n.644-3128T>C)
14g.94619213T>GCA390855412SERPINA3c.662T>G (p.Phe221Cys)
c.8T>G (p.Phe3Cys)
c.1625T>G
n.58-3128T>G
c.644-3128T>G (n.644-3128T>G)
 dbSNP gnomAD v4
14g.94619213T=CA2156074038SERPINA3c.662T= (p.Phe221=)
c.8T= (p.Phe3=)
c.1625T=
n.58-3128T=
c.644-3128T= (n.644-3128T=)
14g.94619213_94619214insCATCAGACA7329860SERPINA3c.662_663insCATCAGA (p.Asp222IlefsTer3)
c.8_9insCATCAGA (p.Asp4IlefsTer3)
c.1625_1626insCATCAGA
n.58-3128_58-3127insCATCAGA
c.644-3128_644-3127insCATCAGA (n.644-3128_644-3127insCATCAGA)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619214T>ACA390855420SERPINA3c.663T>A (p.Phe221Leu)
c.9T>A (p.Phe3Leu)
c.1626T>A
n.58-3127T>A
c.644-3127T>A (n.644-3127T>A)
14g.94619214T>CCA487625174SERPINA3c.663T>C (p.Phe221=)
c.9T>C (p.Phe3=)
c.1626T>C
n.58-3127T>C
c.644-3127T>C (n.644-3127T>C)
14g.94619214T>GCA390855422SERPINA3c.663T>G (p.Phe221Leu)
c.9T>G (p.Phe3Leu)
c.1626T>G
n.58-3127T>G
c.644-3127T>G (n.644-3127T>G)
 gnomAD v4
14g.94619215G>ACA390855425SERPINA3c.664G>A (p.Asp222Asn)
c.10G>A (p.Asp4Asn)
c.1627G>A
n.58-3126G>A
c.644-3126G>A (n.644-3126G>A)
14g.94619215G>CCA390855427SERPINA3c.664G>C (p.Asp222His)
c.10G>C (p.Asp4His)
c.1627G>C
n.58-3126G>C
c.644-3126G>C (n.644-3126G>C)
14g.94619215G>TCA390855429SERPINA3c.664G>T (p.Asp222Tyr)
c.10G>T (p.Asp4Tyr)
c.1627G>T
n.58-3126G>T
c.644-3126G>T (n.644-3126G>T)
14g.94619216A=CA2156074039SERPINA3c.665A= (p.Asp222=)
c.11A= (p.Asp4=)
c.1628A=
n.58-3125A=
c.644-3125A= (n.644-3125A=)
14g.94619216A>CCA390855432SERPINA3c.665A>C (p.Asp222Ala)
c.11A>C (p.Asp4Ala)
c.1628A>C
n.58-3125A>C
c.644-3125A>C (n.644-3125A>C)
14g.94619216A>GCA390855433SERPINA3c.665A>G (p.Asp222Gly)
c.11A>G (p.Asp4Gly)
c.1628A>G
n.58-3125A>G
c.644-3125A>G (n.644-3125A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619216A>TCA390855435SERPINA3c.665A>T (p.Asp222Val)
c.11A>T (p.Asp4Val)
c.1628A>T
n.58-3125A>T
c.644-3125A>T (n.644-3125A>T)
14g.94619217C>ACA7329861SERPINA3c.666C>A (p.Asp222Glu)
c.12C>A (p.Asp4Glu)
c.1629C>A
n.58-3124C>A
c.644-3124C>A (n.644-3124C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619217C=CA2156074040SERPINA3c.666C= (p.Asp222=)
c.12C= (p.Asp4=)
c.1629C=
n.58-3124C=
c.644-3124C= (n.644-3124C=)
14g.94619217C>GCA390855439SERPINA3c.666C>G (p.Asp222Glu)
c.12C>G (p.Asp4Glu)
c.1629C>G
n.58-3124C>G
c.644-3124C>G (n.644-3124C>G)
14g.94619217C>TCA487625175SERPINA3c.666C>T (p.Asp222=)
c.12C>T (p.Asp4=)
c.1629C>T
n.58-3124C>T
c.644-3124C>T (n.644-3124C>T)
 gnomAD v4
14g.94619220_94619221dupCA2802669929SERPINA3c.669_670dup (p.Gln224ProfsTer11)
c.15_16dup (p.Gln6ProfsTer11)
c.1632_1633dup
n.58-3121_58-3120dup
c.644-3121_644-3120dup (n.644-3121_644-3120dup)
14g.94619221delCA645581951SERPINA3c.670del (p.Gln224LysfsTer10)
c.16del (p.Gln6LysfsTer10)
c.1633del
n.58-3120del
c.644-3120del (n.644-3120del)
 COSMIC COSMIC
14g.94619218C>ACA390855443SERPINA3c.667C>A (p.Pro223Thr)
c.13C>A (p.Pro5Thr)
c.1630C>A
n.58-3123C>A
c.644-3123C>A (n.644-3123C>A)
 gnomAD v4
14g.94619218C=CA2156074041SERPINA3c.667C= (p.Pro223=)
c.13C= (p.Pro5=)
c.1630C=
n.58-3123C=
c.644-3123C= (n.644-3123C=)
14g.94619218C>GCA390855450SERPINA3c.667C>G (p.Pro223Ala)
c.13C>G (p.Pro5Ala)
c.1630C>G
n.58-3123C>G
c.644-3123C>G (n.644-3123C>G)
14g.94619218C>TCA265884809SERPINA3c.667C>T (p.Pro223Ser)
c.13C>T (p.Pro5Ser)
c.1630C>T
n.58-3123C>T
c.644-3123C>T (n.644-3123C>T)
 dbSNP gnomAD v4
14g.94619219C>ACA390855453SERPINA3c.668C>A (p.Pro223His)
c.14C>A (p.Pro5His)
c.1631C>A
n.58-3122C>A
c.644-3122C>A (n.644-3122C>A)
 gnomAD v4
14g.94619219C=CA2156074042SERPINA3c.668C= (p.Pro223=)
c.14C= (p.Pro5=)
c.1631C=
n.58-3122C=
c.644-3122C= (n.644-3122C=)
14g.94619219C>GCA390855456SERPINA3c.668C>G (p.Pro223Arg)
c.14C>G (p.Pro5Arg)
c.1631C>G
n.58-3122C>G
c.644-3122C>G (n.644-3122C>G)
 gnomAD v4
14g.94619219C>TCA7329862SERPINA3c.668C>T (p.Pro223Leu)
c.14C>T (p.Pro5Leu)
c.1631C>T
n.58-3122C>T
c.644-3122C>T (n.644-3122C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619220C>ACA487625176SERPINA3c.669C>A (p.Pro223=)
c.15C>A (p.Pro5=)
c.1632C>A
n.58-3121C>A
c.644-3121C>A (n.644-3121C>A)
14g.94619220C>GCA487625177SERPINA3c.669C>G (p.Pro223=)
c.15C>G (p.Pro5=)
c.1632C>G
n.58-3121C>G
c.644-3121C>G (n.644-3121C>G)
14g.94619220C>TCA487625178SERPINA3c.669C>T (p.Pro223=)
c.15C>T (p.Pro5=)
c.1632C>T
n.58-3121C>T
c.644-3121C>T (n.644-3121C>T)
 gnomAD v4
14g.94619221C>ACA390855460SERPINA3c.670C>A (p.Gln224Lys)
c.16C>A (p.Gln6Lys)
c.1633C>A
n.58-3120C>A
c.644-3120C>A (n.644-3120C>A)
 gnomAD v4
14g.94619221C>GCA390855462SERPINA3c.670C>G (p.Gln224Glu)
c.16C>G (p.Gln6Glu)
c.1633C>G
n.58-3120C>G
c.644-3120C>G (n.644-3120C>G)
14g.94619221C>TCA390855463SERPINA3c.670C>T (p.Gln224Ter)
c.16C>T (p.Gln6Ter)
c.1633C>T
n.58-3120C>T
c.644-3120C>T (n.644-3120C>T)
14g.94619222A>CCA390855469SERPINA3c.671A>C (p.Gln224Pro)
c.17A>C (p.Gln6Pro)
c.1634A>C
n.58-3119A>C
c.644-3119A>C (n.644-3119A>C)
14g.94619222A>GCA390855466SERPINA3c.671A>G (p.Gln224Arg)
c.17A>G (p.Gln6Arg)
c.1634A>G
n.58-3119A>G
c.644-3119A>G (n.644-3119A>G)
14g.94619222A>TCA390855468SERPINA3c.671A>T (p.Gln224Leu)
c.17A>T (p.Gln6Leu)
c.1634A>T
n.58-3119A>T
c.644-3119A>T (n.644-3119A>T)
14g.94619223A>CCA390855472SERPINA3c.672A>C (p.Gln224His)
c.18A>C (p.Gln6His)
c.1635A>C
n.58-3118A>C
c.644-3118A>C (n.644-3118A>C)
14g.94619223A>GCA487625179SERPINA3c.672A>G (p.Gln224=)
c.18A>G (p.Gln6=)
c.1635A>G
n.58-3118A>G
c.644-3118A>G (n.644-3118A>G)
14g.94619223A>TCA390855474SERPINA3c.672A>T (p.Gln224His)
c.18A>T (p.Gln6His)
c.1635A>T
n.58-3118A>T
c.644-3118A>T (n.644-3118A>T)
14g.94619224G>ACA390855476SERPINA3c.673G>A (p.Asp225Asn)
c.19G>A (p.Asp7Asn)
c.1636G>A
n.58-3117G>A
c.644-3117G>A (n.644-3117G>A)
14g.94619224G>CCA7329863SERPINA3c.673G>C (p.Asp225His)
c.19G>C (p.Asp7His)
c.1636G>C
n.58-3117G>C
c.644-3117G>C (n.644-3117G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619224G=CA2156074043SERPINA3c.673G= (p.Asp225=)
c.19G= (p.Asp7=)
c.1636G=
n.58-3117G=
c.644-3117G= (n.644-3117G=)
14g.94619224G>TCA390855479SERPINA3c.673G>T (p.Asp225Tyr)
c.19G>T (p.Asp7Tyr)
c.1636G>T
n.58-3117G>T
c.644-3117G>T (n.644-3117G>T)
14g.94619225A>CCA390855482SERPINA3c.674A>C (p.Asp225Ala)
c.20A>C (p.Asp7Ala)
c.1637A>C
n.58-3116A>C
c.644-3116A>C (n.644-3116A>C)
14g.94619225A>GCA390855486SERPINA3c.674A>G (p.Asp225Gly)
c.20A>G (p.Asp7Gly)
c.1637A>G
n.58-3116A>G
c.644-3116A>G (n.644-3116A>G)
14g.94619225A>TCA390855483SERPINA3c.674A>T (p.Asp225Val)
c.20A>T (p.Asp7Val)
c.1637A>T
n.58-3116A>T
c.644-3116A>T (n.644-3116A>T)
14g.94619226T>ACA390855488SERPINA3c.675T>A (p.Asp225Glu)
c.21T>A (p.Asp7Glu)
c.1638T>A
n.58-3115T>A
c.644-3115T>A (n.644-3115T>A)
14g.94619226T>CCA265884862SERPINA3c.675T>C (p.Asp225=)
c.21T>C (p.Asp7=)
c.1638T>C
n.58-3115T>C
c.644-3115T>C (n.644-3115T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619226T>GCA390855490SERPINA3c.675T>G (p.Asp225Glu)
c.21T>G (p.Asp7Glu)
c.1638T>G
n.58-3115T>G
c.644-3115T>G (n.644-3115T>G)
14g.94619226T=CA2156074044SERPINA3c.675T= (p.Asp225=)
c.21T= (p.Asp7=)
c.1638T=
n.58-3115T=
c.644-3115T= (n.644-3115T=)
14g.94619227A>CCA390855493SERPINA3c.676A>C (p.Thr226Pro)
c.22A>C (p.Thr8Pro)
c.1639A>C
n.58-3114A>C
c.644-3114A>C (n.644-3114A>C)
14g.94619227A>GCA390855494SERPINA3c.676A>G (p.Thr226Ala)
c.22A>G (p.Thr8Ala)
c.1639A>G
n.58-3114A>G
c.644-3114A>G (n.644-3114A>G)
14g.94619227A>TCA390855496SERPINA3c.676A>T (p.Thr226Ser)
c.22A>T (p.Thr8Ser)
c.1639A>T
n.58-3114A>T
c.644-3114A>T (n.644-3114A>T)
14g.94619228C>ACA390855498SERPINA3c.677C>A (p.Thr226Asn)
c.23C>A (p.Thr8Asn)
c.1640C>A
n.58-3113C>A
c.644-3113C>A (n.644-3113C>A)
14g.94619228C=CA2156074045SERPINA3c.677C= (p.Thr226=)
c.23C= (p.Thr8=)
c.1640C=
n.58-3113C=
c.644-3113C= (n.644-3113C=)
14g.94619228C>GCA390855499SERPINA3c.677C>G (p.Thr226Ser)
c.23C>G (p.Thr8Ser)
c.1640C>G
n.58-3113C>G
c.644-3113C>G (n.644-3113C>G)
 dbSNP gnomAD v3 gnomAD v4
14g.94619228C>TCA390855501SERPINA3c.677C>T (p.Thr226Ile)
c.23C>T (p.Thr8Ile)
c.1640C>T
n.58-3113C>T
c.644-3113C>T (n.644-3113C>T)
 gnomAD v4
14g.94619229T>ACA487625180SERPINA3c.678T>A (p.Thr226=)
c.24T>A (p.Thr8=)
c.1641T>A
n.58-3112T>A
c.644-3112T>A (n.644-3112T>A)
14g.94619229T>CCA265884867SERPINA3c.678T>C (p.Thr226=)
c.24T>C (p.Thr8=)
c.1641T>C
n.58-3112T>C
c.644-3112T>C (n.644-3112T>C)
 dbSNP
14g.94619229T>GCA487625181SERPINA3c.678T>G (p.Thr226=)
c.24T>G (p.Thr8=)
c.1641T>G
n.58-3112T>G
c.644-3112T>G (n.644-3112T>G)
14g.94619229T=CA2156074046SERPINA3c.678T= (p.Thr226=)
c.24T= (p.Thr8=)
c.1641T=
n.58-3112T=
c.644-3112T= (n.644-3112T=)
14g.94619230C>ACA390855504SERPINA3c.679C>A (p.His227Asn)
c.25C>A (p.His9Asn)
c.1642C>A
n.58-3111C>A
c.644-3111C>A (n.644-3111C>A)
14g.94619230C=CA2156074047SERPINA3c.679C= (p.His227=)
c.25C= (p.His9=)
c.1642C=
n.58-3111C=
c.644-3111C= (n.644-3111C=)
14g.94619230C>GCA390855505SERPINA3c.679C>G (p.His227Asp)
c.25C>G (p.His9Asp)
c.1642C>G
n.58-3111C>G
c.644-3111C>G (n.644-3111C>G)
14g.94619230C>TCA7329864SERPINA3c.679C>T (p.His227Tyr)
c.25C>T (p.His9Tyr)
c.1642C>T
n.58-3111C>T
c.644-3111C>T (n.644-3111C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619231A>CCA390855512SERPINA3c.680A>C (p.His227Pro)
c.26A>C (p.His9Pro)
c.1643A>C
n.58-3110A>C
c.644-3110A>C (n.644-3110A>C)
14g.94619231A>GCA390855510SERPINA3c.680A>G (p.His227Arg)
c.26A>G (p.His9Arg)
c.1643A>G
n.58-3110A>G
c.644-3110A>G (n.644-3110A>G)
14g.94619231A>TCA390855508SERPINA3c.680A>T (p.His227Leu)
c.26A>T (p.His9Leu)
c.1643A>T
n.58-3110A>T
c.644-3110A>T (n.644-3110A>T)
14g.94619232T>ACA390855514SERPINA3c.681T>A (p.His227Gln)
c.27T>A (p.His9Gln)
c.1644T>A
n.58-3109T>A
c.644-3109T>A (n.644-3109T>A)
14g.94619232T>CCA487625182SERPINA3c.681T>C (p.His227=)
c.27T>C (p.His9=)
c.1644T>C
n.58-3109T>C
c.644-3109T>C (n.644-3109T>C)
14g.94619232T>GCA390855516SERPINA3c.681T>G (p.His227Gln)
c.27T>G (p.His9Gln)
c.1644T>G
n.58-3109T>G
c.644-3109T>G (n.644-3109T>G)
14g.94619233C>ACA390855518SERPINA3c.682C>A (p.Gln228Lys)
c.28C>A (p.Gln10Lys)
c.1645C>A
n.58-3108C>A
c.644-3108C>A (n.644-3108C>A)
14g.94619233C=CA2156074048SERPINA3c.682C= (p.Gln228=)
c.28C= (p.Gln10=)
c.1645C=
n.58-3108C=
c.644-3108C= (n.644-3108C=)
14g.94619233C>GCA390855519SERPINA3c.682C>G (p.Gln228Glu)
c.28C>G (p.Gln10Glu)
c.1645C>G
n.58-3108C>G
c.644-3108C>G (n.644-3108C>G)
14g.94619233C>TCA390855521SERPINA3c.682C>T (p.Gln228Ter)
c.28C>T (p.Gln10Ter)
c.1645C>T
n.58-3108C>T
c.644-3108C>T (n.644-3108C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619234A=CA2156074049SERPINA3c.683A= (p.Gln228=)
c.29A= (p.Gln10=)
c.1646A=
n.58-3107A=
c.644-3107A= (n.644-3107A=)
14g.94619234A>CCA390855523SERPINA3c.683A>C (p.Gln228Pro)
c.29A>C (p.Gln10Pro)
c.1646A>C
n.58-3107A>C
c.644-3107A>C (n.644-3107A>C)
14g.94619234A>GCA7329865SERPINA3c.683A>G (p.Gln228Arg)
c.29A>G (p.Gln10Arg)
c.1646A>G
n.58-3107A>G
c.644-3107A>G (n.644-3107A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619234A>TCA390855526SERPINA3c.683A>T (p.Gln228Leu)
c.29A>T (p.Gln10Leu)
c.1646A>T
n.58-3107A>T
c.644-3107A>T (n.644-3107A>T)
14g.94619235G>ACA487625183SERPINA3c.684G>A (p.Gln228=)
c.30G>A (p.Gln10=)
c.1647G>A
n.58-3106G>A
c.644-3106G>A (n.644-3106G>A)
14g.94619235G>CCA7329866SERPINA3c.684G>C (p.Gln228His)
c.30G>C (p.Gln10His)
c.1647G>C
n.58-3106G>C
c.644-3106G>C (n.644-3106G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619235G=CA2156074050SERPINA3c.684G= (p.Gln228=)
c.30G= (p.Gln10=)
c.1647G=
n.58-3106G=
c.644-3106G= (n.644-3106G=)
14g.94619235G>TCA390855528SERPINA3c.684G>T (p.Gln228His)
c.30G>T (p.Gln10His)
c.1647G>T
n.58-3106G>T
c.644-3106G>T (n.644-3106G>T)
14g.94619236T>ACA390855531SERPINA3c.685T>A (p.Ser229Thr)
c.31T>A (p.Ser11Thr)
c.1648T>A
n.58-3105T>A
c.644-3105T>A (n.644-3105T>A)
14g.94619236T>CCA390855535SERPINA3c.685T>C (p.Ser229Pro)
c.31T>C (p.Ser11Pro)
c.1648T>C
n.58-3105T>C
c.644-3105T>C (n.644-3105T>C)
14g.94619236T>GCA390855533SERPINA3c.685T>G (p.Ser229Ala)
c.31T>G (p.Ser11Ala)
c.1648T>G
n.58-3105T>G
c.644-3105T>G (n.644-3105T>G)
14g.94619237C>ACA390855537SERPINA3c.686C>A (p.Ser229Ter)
c.32C>A (p.Ser11Ter)
c.1649C>A
n.58-3104C>A
c.644-3104C>A (n.644-3104C>A)
14g.94619237C>GCA390855539SERPINA3c.686C>G (p.Ser229Ter)
c.32C>G (p.Ser11Ter)
c.1649C>G
n.58-3104C>G
c.644-3104C>G (n.644-3104C>G)
14g.94619237C>TCA390855541SERPINA3c.686C>T (p.Ser229Leu)
c.32C>T (p.Ser11Leu)
c.1649C>T
n.58-3104C>T
c.644-3104C>T (n.644-3104C>T)
14g.94619238A=CA2156074051SERPINA3c.687A= (p.Ser229=)
c.33A= (p.Ser11=)
c.1650A=
n.58-3103A=
c.644-3103A= (n.644-3103A=)
14g.94619238A>CCA487625184SERPINA3c.687A>C (p.Ser229=)
c.33A>C (p.Ser11=)
c.1650A>C
n.58-3103A>C
c.644-3103A>C (n.644-3103A>C)
 dbSNP gnomAD v3 gnomAD v4
14g.94619238A>GCA487625185SERPINA3c.687A>G (p.Ser229=)
c.33A>G (p.Ser11=)
c.1650A>G
n.58-3103A>G
c.644-3103A>G (n.644-3103A>G)
14g.94619238A>TCA487625186SERPINA3c.687A>T (p.Ser229=)
c.33A>T (p.Ser11=)
c.1650A>T
n.58-3103A>T
c.644-3103A>T (n.644-3103A>T)
14g.94619239A>CCA487625187SERPINA3c.688A>C (p.Arg230=)
c.34A>C (p.Arg12=)
c.1651A>C
n.58-3102A>C
c.644-3102A>C (n.644-3102A>C)
14g.94619239A>GCA390855543SERPINA3c.688A>G (p.Arg230Gly)
c.34A>G (p.Arg12Gly)
c.1651A>G
n.58-3102A>G
c.644-3102A>G (n.644-3102A>G)
14g.94619239A>TCA390855545SERPINA3c.688A>T (p.Arg230Trp)
c.34A>T (p.Arg12Trp)
c.1651A>T
n.58-3102A>T
c.644-3102A>T (n.644-3102A>T)
14g.94619240G>ACA390855547SERPINA3c.689G>A (p.Arg230Lys)
c.35G>A (p.Arg12Lys)
c.1652G>A
n.58-3101G>A
c.644-3101G>A (n.644-3101G>A)
 COSMIC COSMIC
14g.94619240G>CCA390855551SERPINA3c.689G>C (p.Arg230Thr)
c.35G>C (p.Arg12Thr)
c.1652G>C
n.58-3101G>C
c.644-3101G>C (n.644-3101G>C)
14g.94619240G>TCA390855549SERPINA3c.689G>T (p.Arg230Met)
c.35G>T (p.Arg12Met)
c.1652G>T
n.58-3101G>T
c.644-3101G>T (n.644-3101G>T)
14g.94619241G>ACA487625188SERPINA3c.690G>A (p.Arg230=)
c.36G>A (p.Arg12=)
c.1653G>A
n.58-3100G>A
c.644-3100G>A (n.644-3100G>A)
14g.94619241G>CCA390855553SERPINA3c.690G>C (p.Arg230Ser)
c.36G>C (p.Arg12Ser)
c.1653G>C
n.58-3100G>C
c.644-3100G>C (n.644-3100G>C)
 dbSNP gnomAD v3 gnomAD v4
14g.94619241G=CA2156074053SERPINA3c.690G= (p.Arg230=)
c.36G= (p.Arg12=)
c.1653G=
n.58-3100G=
c.644-3100G= (n.644-3100G=)
14g.94619241G>TCA390855555SERPINA3c.690G>T (p.Arg230Ser)
c.36G>T (p.Arg12Ser)
c.1653G>T
n.58-3100G>T
c.644-3100G>T (n.644-3100G>T)
 dbSNP gnomAD v4
14g.94619241_94619242delinsGTCA2156074052SERPINA3c.690_691delinsGT (p.Arg230=)
c.36_37delinsGT (p.Arg12=)
c.1653_1654delinsGT
n.58-3100_58-3099delinsGT
c.644-3100_644-3099delinsGT (n.644-3100_644-3099delinsGT)
14g.94619242T>ACA390855557SERPINA3c.691T>A (p.Phe231Ile)
c.37T>A (p.Phe13Ile)
c.1654T>A
n.58-3099T>A
c.644-3099T>A (n.644-3099T>A)
 dbSNP gnomAD v2 gnomAD v4
14g.94619242T>CCA390855559SERPINA3c.691T>C (p.Phe231Leu)
c.37T>C (p.Phe13Leu)
c.1654T>C
n.58-3099T>C
c.644-3099T>C (n.644-3099T>C)
 gnomAD v4
14g.94619242T>GCA390855560SERPINA3c.691T>G (p.Phe231Val)
c.37T>G (p.Phe13Val)
c.1654T>G
n.58-3099T>G
c.644-3099T>G (n.644-3099T>G)
14g.94619242T=CA2156074055SERPINA3c.691T= (p.Phe231=)
c.37T= (p.Phe13=)
c.1654T=
n.58-3099T=
c.644-3099T= (n.644-3099T=)
14g.94619243delCA2156074054SERPINA3c.692del (p.Phe231SerfsTer3)
c.38del (p.Phe13SerfsTer3)
c.1655del
n.58-3098del
c.644-3098del (n.644-3098del)
 dbSNP
14g.94619243T>ACA390855563SERPINA3c.692T>A (p.Phe231Tyr)
c.38T>A (p.Phe13Tyr)
c.1655T>A
n.58-3098T>A
c.644-3098T>A (n.644-3098T>A)
14g.94619243T>CCA390855564SERPINA3c.692T>C (p.Phe231Ser)
c.38T>C (p.Phe13Ser)
c.1655T>C
n.58-3098T>C
c.644-3098T>C (n.644-3098T>C)
14g.94619243T>GCA390855566SERPINA3c.692T>G (p.Phe231Cys)
c.38T>G (p.Phe13Cys)
c.1655T>G
n.58-3098T>G
c.644-3098T>G (n.644-3098T>G)
14g.94619244C>ACA390855568SERPINA3c.693C>A (p.Phe231Leu)
c.39C>A (p.Phe13Leu)
c.1656C>A
n.58-3097C>A
c.644-3097C>A (n.644-3097C>A)
14g.94619244C>GCA390855570SERPINA3c.693C>G (p.Phe231Leu)
c.39C>G (p.Phe13Leu)
c.1656C>G
n.58-3097C>G
c.644-3097C>G (n.644-3097C>G)
14g.94619244C>TCA487625189SERPINA3c.693C>T (p.Phe231=)
c.39C>T (p.Phe13=)
c.1656C>T
n.58-3097C>T
c.644-3097C>T (n.644-3097C>T)
 gnomAD v4
14g.94619245T>ACA390855572SERPINA3c.694T>A (p.Tyr232Asn)
c.40T>A (p.Tyr14Asn)
c.1657T>A
n.58-3096T>A
c.644-3096T>A (n.644-3096T>A)
14g.94619245T>CCA390855574SERPINA3c.694T>C (p.Tyr232His)
c.40T>C (p.Tyr14His)
c.1657T>C
n.58-3096T>C
c.644-3096T>C (n.644-3096T>C)
 dbSNP
14g.94619245T>GCA390855575SERPINA3c.694T>G (p.Tyr232Asp)
c.40T>G (p.Tyr14Asp)
c.1657T>G
n.58-3096T>G
c.644-3096T>G (n.644-3096T>G)
 ClinVar
14g.94619245T=CA2156074056SERPINA3c.694T= (p.Tyr232=)
c.40T= (p.Tyr14=)
c.1657T=
n.58-3096T=
c.644-3096T= (n.644-3096T=)
14g.94619246A=CA2156074057SERPINA3c.695A= (p.Tyr232=)
c.41A= (p.Tyr14=)
c.1658A=
n.58-3095A=
c.644-3095A= (n.644-3095A=)
14g.94619246A>CCA390855579SERPINA3c.695A>C (p.Tyr232Ser)
c.41A>C (p.Tyr14Ser)
c.1658A>C
n.58-3095A>C
c.644-3095A>C (n.644-3095A>C)
 gnomAD v4
14g.94619246A>GCA390855581SERPINA3c.695A>G (p.Tyr232Cys)
c.41A>G (p.Tyr14Cys)
c.1658A>G
n.58-3095A>G
c.644-3095A>G (n.644-3095A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.94619246A>TCA390855580SERPINA3c.695A>T (p.Tyr232Phe)
c.41A>T (p.Tyr14Phe)
c.1658A>T
n.58-3095A>T
c.644-3095A>T (n.644-3095A>T)
14g.94619247C>ACA390855582SERPINA3c.696C>A (p.Tyr232Ter)
c.42C>A (p.Tyr14Ter)
c.1659C>A
n.58-3094C>A
c.644-3094C>A (n.644-3094C>A)
14g.94619247C>GCA390855583SERPINA3c.696C>G (p.Tyr232Ter)
c.42C>G (p.Tyr14Ter)
c.1659C>G
n.58-3094C>G
c.644-3094C>G (n.644-3094C>G)
14g.94619247C>TCA487625190SERPINA3c.696C>T (p.Tyr232=)
c.42C>T (p.Tyr14=)
c.1659C>T
n.58-3094C>T
c.644-3094C>T (n.644-3094C>T)
 gnomAD v4
14g.94619248T>ACA390855585SERPINA3c.697T>A (p.Leu233Met)
c.43T>A (p.Leu15Met)
c.1660T>A
n.58-3093T>A
c.644-3093T>A (n.644-3093T>A)
14g.94619248T>CCA487625191SERPINA3c.697T>C (p.Leu233=)
c.43T>C (p.Leu15=)
c.1660T>C
n.58-3093T>C
c.644-3093T>C (n.644-3093T>C)
 gnomAD v4
14g.94619248T>GCA390855586SERPINA3c.697T>G (p.Leu233Val)
c.43T>G (p.Leu15Val)
c.1660T>G
n.58-3093T>G
c.644-3093T>G (n.644-3093T>G)
14g.94619249T>ACA390855588SERPINA3c.698T>A (p.Leu233Ter)
c.44T>A (p.Leu15Ter)
c.1661T>A
n.58-3092T>A
c.644-3092T>A (n.644-3092T>A)
14g.94619249T>CCA390855589SERPINA3c.698T>C (p.Leu233Ser)
c.44T>C (p.Leu15Ser)
c.1661T>C
n.58-3092T>C
c.644-3092T>C (n.644-3092T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619249T>GCA390855592SERPINA3c.698T>G (p.Leu233Trp)
c.44T>G (p.Leu15Trp)
c.1661T>G
n.58-3092T>G
c.644-3092T>G (n.644-3092T>G)
 gnomAD v4
14g.94619249T=CA2156074058SERPINA3c.698T= (p.Leu233=)
c.44T= (p.Leu15=)
c.1661T=
n.58-3092T=
c.644-3092T= (n.644-3092T=)
14g.94619250G>ACA487625192SERPINA3c.699G>A (p.Leu233=)
c.45G>A (p.Leu15=)
c.1662G>A
n.58-3091G>A
c.644-3091G>A (n.644-3091G>A)
14g.94619250G>CCA7329867SERPINA3c.699G>C (p.Leu233Phe)
c.45G>C (p.Leu15Phe)
c.1662G>C
n.58-3091G>C
c.644-3091G>C (n.644-3091G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619250G=CA2156074059SERPINA3c.699G= (p.Leu233=)
c.45G= (p.Leu15=)
c.1662G=
n.58-3091G=
c.644-3091G= (n.644-3091G=)
14g.94619250G>TCA390855595SERPINA3c.699G>T (p.Leu233Phe)
c.45G>T (p.Leu15Phe)
c.1662G>T
n.58-3091G>T
c.644-3091G>T (n.644-3091G>T)
14g.94619251A=CA2156074060SERPINA3c.700A= (p.Ser234=)
c.46A= (p.Ser16=)
c.1663A=
n.58-3090A=
c.644-3090A= (n.644-3090A=)
14g.94619251A>CCA7329868SERPINA3c.700A>C (p.Ser234Arg)
c.46A>C (p.Ser16Arg)
c.1663A>C
n.58-3090A>C
c.644-3090A>C (n.644-3090A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619251A>GCA390855598SERPINA3c.700A>G (p.Ser234Gly)
c.46A>G (p.Ser16Gly)
c.1663A>G
n.58-3090A>G
c.644-3090A>G (n.644-3090A>G)
14g.94619251A>TCA390855599SERPINA3c.700A>T (p.Ser234Cys)
c.46A>T (p.Ser16Cys)
c.1663A>T
n.58-3090A>T
c.644-3090A>T (n.644-3090A>T)
14g.94619252G>ACA390855604SERPINA3c.701G>A (p.Ser234Asn)
c.47G>A (p.Ser16Asn)
c.1664G>A
n.58-3089G>A
c.644-3089G>A (n.644-3089G>A)
 gnomAD v4
14g.94619252G>CCA390855605SERPINA3c.701G>C (p.Ser234Thr)
c.47G>C (p.Ser16Thr)
c.1664G>C
n.58-3089G>C
c.644-3089G>C (n.644-3089G>C)
14g.94619252G>TCA390855602SERPINA3c.701G>T (p.Ser234Ile)
c.47G>T (p.Ser16Ile)
c.1664G>T
n.58-3089G>T
c.644-3089G>T (n.644-3089G>T)
14g.94619253C>ACA390855607SERPINA3c.702C>A (p.Ser234Arg)
c.48C>A (p.Ser16Arg)
c.1665C>A
n.58-3088C>A
c.644-3088C>A (n.644-3088C>A)
 gnomAD v4
14g.94619253C>GCA390855609SERPINA3c.702C>G (p.Ser234Arg)
c.48C>G (p.Ser16Arg)
c.1665C>G
n.58-3088C>G
c.644-3088C>G (n.644-3088C>G)
14g.94619253C>TCA487625193SERPINA3c.702C>T (p.Ser234=)
c.48C>T (p.Ser16=)
c.1665C>T
n.58-3088C>T
c.644-3088C>T (n.644-3088C>T)
14g.94619254A=CA2156074061SERPINA3c.703A= (p.Lys235=)
c.49A= (p.Lys17=)
c.1666A=
n.58-3087A=
c.644-3087A= (n.644-3087A=)
14g.94619254A>CCA390855611SERPINA3c.703A>C (p.Lys235Gln)
c.49A>C (p.Lys17Gln)
c.1666A>C
n.58-3087A>C
c.644-3087A>C (n.644-3087A>C)
14g.94619254A>GCA390855613SERPINA3c.703A>G (p.Lys235Glu)
c.49A>G (p.Lys17Glu)
c.1666A>G
n.58-3087A>G
c.644-3087A>G (n.644-3087A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.94619254A>TCA390855615SERPINA3c.703A>T (p.Lys235Ter)
c.49A>T (p.Lys17Ter)
c.1666A>T
n.58-3087A>T
c.644-3087A>T (n.644-3087A>T)
14g.94619255A>CCA390855621SERPINA3c.704A>C (p.Lys235Thr)
c.50A>C (p.Lys17Thr)
c.1667A>C
n.58-3086A>C
c.644-3086A>C (n.644-3086A>C)
14g.94619255A>GCA390855617SERPINA3c.704A>G (p.Lys235Arg)
c.50A>G (p.Lys17Arg)
c.1667A>G
n.58-3086A>G
c.644-3086A>G (n.644-3086A>G)
14g.94619255A>TCA390855619SERPINA3c.704A>T (p.Lys235Met)
c.50A>T (p.Lys17Met)
c.1667A>T
n.58-3086A>T
c.644-3086A>T (n.644-3086A>T)
14g.94619256G>ACA487625194SERPINA3c.705G>A (p.Lys235=)
c.51G>A (p.Lys17=)
c.1668G>A
n.58-3085G>A
c.644-3085G>A (n.644-3085G>A)
14g.94619256G>CCA390855623SERPINA3c.705G>C (p.Lys235Asn)
c.51G>C (p.Lys17Asn)
c.1668G>C
n.58-3085G>C
c.644-3085G>C (n.644-3085G>C)
 COSMIC COSMIC
14g.94619256G>TCA390855625SERPINA3c.705G>T (p.Lys235Asn)
c.51G>T (p.Lys17Asn)
c.1668G>T
n.58-3085G>T
c.644-3085G>T (n.644-3085G>T)
14g.94619257A>CCA390855627SERPINA3c.706A>C (p.Lys236Gln)
c.52A>C (p.Lys18Gln)
c.1669A>C
n.58-3084A>C
c.644-3084A>C (n.644-3084A>C)
14g.94619257A>GCA390855629SERPINA3c.706A>G (p.Lys236Glu)
c.52A>G (p.Lys18Glu)
c.1669A>G
n.58-3084A>G
c.644-3084A>G (n.644-3084A>G)
14g.94619257A>TCA390855631SERPINA3c.706A>T (p.Lys236Ter)
c.52A>T (p.Lys18Ter)
c.1669A>T
n.58-3084A>T
c.644-3084A>T (n.644-3084A>T)
14g.94619258A>CCA390855636SERPINA3c.707A>C (p.Lys236Thr)
c.53A>C (p.Lys18Thr)
c.1670A>C
n.58-3083A>C
c.644-3083A>C (n.644-3083A>C)
14g.94619258A>GCA390855632SERPINA3c.707A>G (p.Lys236Arg)
c.53A>G (p.Lys18Arg)
c.1670A>G
n.58-3083A>G
c.644-3083A>G (n.644-3083A>G)
14g.94619258A>TCA390855634SERPINA3c.707A>T (p.Lys236Ile)
c.53A>T (p.Lys18Ile)
c.1670A>T
n.58-3083A>T
c.644-3083A>T (n.644-3083A>T)
14g.94619259A>CCA390855638SERPINA3c.708A>C (p.Lys236Asn)
c.54A>C (p.Lys18Asn)
c.1671A>C
n.58-3082A>C
c.644-3082A>C (n.644-3082A>C)
14g.94619259A>GCA487625195SERPINA3c.708A>G (p.Lys236=)
c.54A>G (p.Lys18=)
c.1671A>G
n.58-3082A>G
c.644-3082A>G (n.644-3082A>G)
14g.94619259A>TCA390855640SERPINA3c.708A>T (p.Lys236Asn)
c.54A>T (p.Lys18Asn)
c.1671A>T
n.58-3082A>T
c.644-3082A>T (n.644-3082A>T)
14g.94619260A=CA2156074062SERPINA3c.709A= (p.Lys237=)
c.55A= (p.Lys19=)
c.1672A=
n.58-3081A=
c.644-3081A= (n.644-3081A=)
14g.94619260A>CCA390855642SERPINA3c.709A>C (p.Lys237Gln)
c.55A>C (p.Lys19Gln)
c.1672A>C
n.58-3081A>C
c.644-3081A>C (n.644-3081A>C)
14g.94619260A>GCA265884881SERPINA3c.709A>G (p.Lys237Glu)
c.55A>G (p.Lys19Glu)
c.1672A>G
n.58-3081A>G
c.644-3081A>G (n.644-3081A>G)
 dbSNP
14g.94619260A>TCA390855645SERPINA3c.709A>T (p.Lys237Ter)
c.55A>T (p.Lys19Ter)
c.1672A>T
n.58-3081A>T
c.644-3081A>T (n.644-3081A>T)
14g.94619261A=CA2156074063SERPINA3c.710A= (p.Lys237=)
c.56A= (p.Lys19=)
c.1673A=
n.58-3080A=
c.644-3080A= (n.644-3080A=)
14g.94619261A>CCA390855647SERPINA3c.710A>C (p.Lys237Thr)
c.56A>C (p.Lys19Thr)
c.1673A>C
n.58-3080A>C
c.644-3080A>C (n.644-3080A>C)
14g.94619261A>GCA7329869SERPINA3c.710A>G (p.Lys237Arg)
c.56A>G (p.Lys19Arg)
c.1673A>G
n.58-3080A>G
c.644-3080A>G (n.644-3080A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619261A>TCA390855651SERPINA3c.710A>T (p.Lys237Met)
c.56A>T (p.Lys19Met)
c.1673A>T
n.58-3080A>T
c.644-3080A>T (n.644-3080A>T)
14g.94619262G>ACA487625196SERPINA3c.711G>A (p.Lys237=)
c.57G>A (p.Lys19=)
c.1674G>A
n.58-3079G>A
c.644-3079G>A (n.644-3079G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.94619262G>CCA390855653SERPINA3c.711G>C (p.Lys237Asn)
c.57G>C (p.Lys19Asn)
c.1674G>C
n.58-3079G>C
c.644-3079G>C (n.644-3079G>C)
14g.94619262G=CA2156074064SERPINA3c.711G= (p.Lys237=)
c.57G= (p.Lys19=)
c.1674G=
n.58-3079G=
c.644-3079G= (n.644-3079G=)
14g.94619262G>TCA390855655SERPINA3c.711G>T (p.Lys237Asn)
c.57G>T (p.Lys19Asn)
c.1674G>T
n.58-3079G>T
c.644-3079G>T (n.644-3079G>T)
14g.94619263T>ACA390855658SERPINA3c.712T>A (p.Trp238Arg)
c.58T>A (p.Trp20Arg)
c.1675T>A
n.58-3078T>A
c.644-3078T>A (n.644-3078T>A)
14g.94619263T>CCA390855659SERPINA3c.712T>C (p.Trp238Arg)
c.58T>C (p.Trp20Arg)
c.1675T>C
n.58-3078T>C
c.644-3078T>C (n.644-3078T>C)
14g.94619263T>GCA390855661SERPINA3c.712T>G (p.Trp238Gly)
c.58T>G (p.Trp20Gly)
c.1675T>G
n.58-3078T>G
c.644-3078T>G (n.644-3078T>G)
 gnomAD v4
14g.94619264G>ACA7329870SERPINA3c.713G>A (p.Trp238Ter)
c.59G>A (p.Trp20Ter)
c.1676G>A
n.58-3077G>A
c.644-3077G>A (n.644-3077G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619264G>CCA390855664SERPINA3c.713G>C (p.Trp238Ser)
c.59G>C (p.Trp20Ser)
c.1676G>C
n.58-3077G>C
c.644-3077G>C (n.644-3077G>C)
14g.94619264G=CA2156074065SERPINA3c.713G= (p.Trp238=)
c.59G= (p.Trp20=)
c.1676G=
n.58-3077G=
c.644-3077G= (n.644-3077G=)
14g.94619264G>TCA390855666SERPINA3c.713G>T (p.Trp238Leu)
c.59G>T (p.Trp20Leu)
c.1676G>T
n.58-3077G>T
c.644-3077G>T (n.644-3077G>T)
14g.94619265G>ACA390855668SERPINA3c.714G>A (p.Trp238Ter)
c.60G>A (p.Trp20Ter)
c.1677G>A
n.58-3076G>A
c.644-3076G>A (n.644-3076G>A)
 gnomAD v4
14g.94619265G>CCA390855672SERPINA3c.714G>C (p.Trp238Cys)
c.60G>C (p.Trp20Cys)
c.1677G>C
n.58-3076G>C
c.644-3076G>C (n.644-3076G>C)
 dbSNP gnomAD v3 gnomAD v4
14g.94619265G=CA2156074066SERPINA3c.714G= (p.Trp238=)
c.60G= (p.Trp20=)
c.1677G=
n.58-3076G=
c.644-3076G= (n.644-3076G=)
14g.94619265G>TCA390855670SERPINA3c.714G>T (p.Trp238Cys)
c.60G>T (p.Trp20Cys)
c.1677G>T
n.58-3076G>T
c.644-3076G>T (n.644-3076G>T)
 COSMIC COSMIC
14g.94619266G>ACA390855674SERPINA3c.715G>A (p.Val239Ile)
c.61G>A (p.Val21Ile)
c.1678G>A
n.58-3075G>A
c.644-3075G>A (n.644-3075G>A)
 gnomAD v4
14g.94619266G>CCA390855676SERPINA3c.715G>C (p.Val239Leu)
c.61G>C (p.Val21Leu)
c.1678G>C
n.58-3075G>C
c.644-3075G>C (n.644-3075G>C)
14g.94619266G>TCA390855678SERPINA3c.715G>T (p.Val239Leu)
c.61G>T (p.Val21Leu)
c.1678G>T
n.58-3075G>T
c.644-3075G>T (n.644-3075G>T)
14g.94619267T>ACA390855680SERPINA3c.716T>A (p.Val239Glu)
c.62T>A (p.Val21Glu)
c.1679T>A
n.58-3074T>A
c.644-3074T>A (n.644-3074T>A)
14g.94619267T>CCA7329871SERPINA3c.716T>C (p.Val239Ala)
c.62T>C (p.Val21Ala)
c.1679T>C
n.58-3074T>C
c.644-3074T>C (n.644-3074T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619267T>GCA390855682SERPINA3c.716T>G (p.Val239Gly)
c.62T>G (p.Val21Gly)
c.1679T>G
n.58-3074T>G
c.644-3074T>G (n.644-3074T>G)
14g.94619267T=CA2156074067SERPINA3c.716T= (p.Val239=)
c.62T= (p.Val21=)
c.1679T=
n.58-3074T=
c.644-3074T= (n.644-3074T=)
14g.94619268A>CCA487625197SERPINA3c.717A>C (p.Val239=)
c.63A>C (p.Val21=)
c.1680A>C
n.58-3073A>C
c.644-3073A>C (n.644-3073A>C)
14g.94619268A>GCA487625198SERPINA3c.717A>G (p.Val239=)
c.63A>G (p.Val21=)
c.1680A>G
n.58-3073A>G
c.644-3073A>G (n.644-3073A>G)
 gnomAD v4
14g.94619268A>TCA487625199SERPINA3c.717A>T (p.Val239=)
c.63A>T (p.Val21=)
c.1680A>T
n.58-3073A>T
c.644-3073A>T (n.644-3073A>T)
14g.94619269A>CCA390855684SERPINA3c.718A>C (p.Met240Leu)
c.64A>C (p.Met22Leu)
c.1681A>C
n.58-3072A>C
c.644-3072A>C (n.644-3072A>C)
14g.94619269A>GCA390855686SERPINA3c.718A>G (p.Met240Val)
c.64A>G (p.Met22Val)
c.1681A>G
n.58-3072A>G
c.644-3072A>G (n.644-3072A>G)
 COSMIC
14g.94619269A>TCA390855688SERPINA3c.718A>T (p.Met240Leu)
c.64A>T (p.Met22Leu)
c.1681A>T
n.58-3072A>T
c.644-3072A>T (n.644-3072A>T)
14g.94619270T>ACA390855690SERPINA3c.719T>A (p.Met240Lys)
c.65T>A (p.Met22Lys)
c.1682T>A
n.58-3071T>A
c.644-3071T>A (n.644-3071T>A)
14g.94619270T>CCA265884896SERPINA3c.719T>C (p.Met240Thr)
c.65T>C (p.Met22Thr)
c.1682T>C
n.58-3071T>C
c.644-3071T>C (n.644-3071T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619270T>GCA390855692SERPINA3c.719T>G (p.Met240Arg)
c.65T>G (p.Met22Arg)
c.1682T>G
n.58-3071T>G
c.644-3071T>G (n.644-3071T>G)
14g.94619270T=CA2156074068SERPINA3c.719T= (p.Met240=)
c.65T= (p.Met22=)
c.1682T=
n.58-3071T=
c.644-3071T= (n.644-3071T=)
14g.94619271G>ACA390855695SERPINA3c.720G>A (p.Met240Ile)
c.66G>A (p.Met22Ile)
c.1683G>A
n.58-3070G>A
c.644-3070G>A (n.644-3070G>A)
 COSMIC COSMIC
14g.94619271G>CCA390855697SERPINA3c.720G>C (p.Met240Ile)
c.66G>C (p.Met22Ile)
c.1683G>C
n.58-3070G>C
c.644-3070G>C (n.644-3070G>C)
14g.94619271G=CA2156074069SERPINA3c.720G= (p.Met240=)
c.66G= (p.Met22=)
c.1683G=
n.58-3070G=
c.644-3070G= (n.644-3070G=)
14g.94619271G>TCA7329872SERPINA3c.720G>T (p.Met240Ile)
c.66G>T (p.Met22Ile)
c.1683G>T
n.58-3070G>T
c.644-3070G>T (n.644-3070G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619272G>ACA390855699SERPINA3c.721G>A (p.Val241Met)
c.67G>A (p.Val23Met)
c.1684G>A
n.58-3069G>A
c.644-3069G>A (n.644-3069G>A)
 gnomAD v4
14g.94619272G>CCA390855701SERPINA3c.721G>C (p.Val241Leu)
c.67G>C (p.Val23Leu)
c.1684G>C
n.58-3069G>C
c.644-3069G>C (n.644-3069G>C)
14g.94619272G>TCA390855702SERPINA3c.721G>T (p.Val241Leu)
c.67G>T (p.Val23Leu)
c.1684G>T
n.58-3069G>T
c.644-3069G>T (n.644-3069G>T)
14g.94619273T>ACA390855704SERPINA3c.722T>A (p.Val241Glu)
c.68T>A (p.Val23Glu)
c.1685T>A
n.58-3068T>A
c.644-3068T>A (n.644-3068T>A)
14g.94619273T>CCA390855705SERPINA3c.722T>C (p.Val241Ala)
c.68T>C (p.Val23Ala)
c.1685T>C
n.58-3068T>C
c.644-3068T>C (n.644-3068T>C)
 gnomAD v4
14g.94619273T>GCA390855707SERPINA3c.722T>G (p.Val241Gly)
c.68T>G (p.Val23Gly)
c.1685T>G
n.58-3068T>G
c.644-3068T>G (n.644-3068T>G)
14g.94619274G>ACA487625201SERPINA3c.723G>A (p.Val241=)
c.69G>A (p.Val23=)
c.1686G>A
n.58-3067G>A
c.644-3067G>A (n.644-3067G>A)
 gnomAD v4 COSMIC COSMIC
14g.94619274G>CCA487625202SERPINA3c.723G>C (p.Val241=)
c.69G>C (p.Val23=)
c.1686G>C
n.58-3067G>C
c.644-3067G>C (n.644-3067G>C)
14g.94619274G=CA2156074070SERPINA3c.723G= (p.Val241=)
c.69G= (p.Val23=)
c.1686G=
n.58-3067G=
c.644-3067G= (n.644-3067G=)
14g.94619274G>TCA487625203SERPINA3c.723G>T (p.Val241=)
c.69G>T (p.Val23=)
c.1686G>T
n.58-3067G>T
c.644-3067G>T (n.644-3067G>T)
 dbSNP gnomAD v4
14g.94619275C>ACA265884897SERPINA3c.724C>A (p.Pro242Thr)
c.70C>A (p.Pro24Thr)
c.1687C>A
n.58-3066C>A
c.644-3066C>A (n.644-3066C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619275C=CA2156074071SERPINA3c.724C= (p.Pro242=)
c.70C= (p.Pro24=)
c.1687C=
n.58-3066C=
c.644-3066C= (n.644-3066C=)
14g.94619275C>GCA390855710SERPINA3c.724C>G (p.Pro242Ala)
c.70C>G (p.Pro24Ala)
c.1687C>G
n.58-3066C>G
c.644-3066C>G (n.644-3066C>G)
14g.94619275C>TCA7329873SERPINA3c.724C>T (p.Pro242Ser)
c.70C>T (p.Pro24Ser)
c.1687C>T
n.58-3066C>T
c.644-3066C>T (n.644-3066C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619276C>ACA390855713SERPINA3c.725C>A (p.Pro242His)
c.71C>A (p.Pro24His)
c.1688C>A
n.58-3065C>A
c.644-3065C>A (n.644-3065C>A)
14g.94619276C=CA2156074072SERPINA3c.725C= (p.Pro242=)
c.71C= (p.Pro24=)
c.1688C=
n.58-3065C=
c.644-3065C= (n.644-3065C=)
14g.94619276C>GCA390855715SERPINA3c.725C>G (p.Pro242Arg)
c.71C>G (p.Pro24Arg)
c.1688C>G
n.58-3065C>G
c.644-3065C>G (n.644-3065C>G)
14g.94619276C>TCA390855717SERPINA3c.725C>T (p.Pro242Leu)
c.71C>T (p.Pro24Leu)
c.1688C>T
n.58-3065C>T
c.644-3065C>T (n.644-3065C>T)
 dbSNP gnomAD v3 gnomAD v4
14g.94619277C>ACA487625205SERPINA3c.726C>A (p.Pro242=)
c.72C>A (p.Pro24=)
c.1689C>A
n.58-3064C>A
c.644-3064C>A (n.644-3064C>A)
14g.94619277C=CA2156074073SERPINA3c.726C= (p.Pro242=)
c.72C= (p.Pro24=)
c.1689C=
n.58-3064C=
c.644-3064C= (n.644-3064C=)
14g.94619277C>GCA487625206SERPINA3c.726C>G (p.Pro242=)
c.72C>G (p.Pro24=)
c.1689C>G
n.58-3064C>G
c.644-3064C>G (n.644-3064C>G)
14g.94619277C>TCA7329874SERPINA3c.726C>T (p.Pro242=)
c.72C>T (p.Pro24=)
c.1689C>T
n.58-3064C>T
c.644-3064C>T (n.644-3064C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619278A=CA2156074074SERPINA3c.727A= (p.Met243=)
c.73A= (p.Met25=)
c.1690A=
n.58-3063A=
c.644-3063A= (n.644-3063A=)
14g.94619278A>CCA390855724SERPINA3c.727A>C (p.Met243Leu)
c.73A>C (p.Met25Leu)
c.1690A>C
n.58-3063A>C
c.644-3063A>C (n.644-3063A>C)
14g.94619278A>GCA7329875SERPINA3c.727A>G (p.Met243Val)
c.73A>G (p.Met25Val)
c.1690A>G
n.58-3063A>G
c.644-3063A>G (n.644-3063A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619278A>TCA390855722SERPINA3c.727A>T (p.Met243Leu)
c.73A>T (p.Met25Leu)
c.1690A>T
n.58-3063A>T
c.644-3063A>T (n.644-3063A>T)
14g.94619279T>ACA390855726SERPINA3c.728T>A (p.Met243Lys)
c.74T>A (p.Met25Lys)
c.1691T>A
n.58-3062T>A
c.644-3062T>A (n.644-3062T>A)
14g.94619279T>CCA390855727SERPINA3c.728T>C (p.Met243Thr)
c.74T>C (p.Met25Thr)
c.1691T>C
n.58-3062T>C
c.644-3062T>C (n.644-3062T>C)
 COSMIC COSMIC
14g.94619279T>GCA390855729SERPINA3c.728T>G (p.Met243Arg)
c.74T>G (p.Met25Arg)
c.1691T>G
n.58-3062T>G
c.644-3062T>G (n.644-3062T>G)
14g.94619280G>ACA390855731SERPINA3c.729G>A (p.Met243Ile)
c.75G>A (p.Met25Ile)
c.1692G>A
n.58-3061G>A
c.644-3061G>A (n.644-3061G>A)
 dbSNP
14g.94619280G>CCA390855733SERPINA3c.729G>C (p.Met243Ile)
c.75G>C (p.Met25Ile)
c.1692G>C
n.58-3061G>C
c.644-3061G>C (n.644-3061G>C)
14g.94619280G=CA2156074075SERPINA3c.729G= (p.Met243=)
c.75G= (p.Met25=)
c.1692G=
n.58-3061G=
c.644-3061G= (n.644-3061G=)
14g.94619280G>TCA390855734SERPINA3c.729G>T (p.Met243Ile)
c.75G>T (p.Met25Ile)
c.1692G>T
n.58-3061G>T
c.644-3061G>T (n.644-3061G>T)
14g.94619281A>CCA390855736SERPINA3c.730A>C (p.Met244Leu)
c.76A>C (p.Met26Leu)
c.1693A>C
n.58-3060A>C
c.644-3060A>C (n.644-3060A>C)
14g.94619281A>GCA390855737SERPINA3c.730A>G (p.Met244Val)
c.76A>G (p.Met26Val)
c.1693A>G
n.58-3060A>G
c.644-3060A>G (n.644-3060A>G)
14g.94619281A>TCA390855739SERPINA3c.730A>T (p.Met244Leu)
c.76A>T (p.Met26Leu)
c.1693A>T
n.58-3060A>T
c.644-3060A>T (n.644-3060A>T)
14g.94619282T>ACA390855740SERPINA3c.731T>A (p.Met244Lys)
c.77T>A (p.Met26Lys)
c.1694T>A
n.58-3059T>A
c.644-3059T>A (n.644-3059T>A)
14g.94619282T>CCA7329876SERPINA3c.731T>C (p.Met244Thr)
c.77T>C (p.Met26Thr)
c.1694T>C
n.58-3059T>C
c.644-3059T>C (n.644-3059T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619282T>GCA390855743SERPINA3c.731T>G (p.Met244Arg)
c.77T>G (p.Met26Arg)
c.1694T>G
n.58-3059T>G
c.644-3059T>G (n.644-3059T>G)
 dbSNP gnomAD v4
14g.94619282T=CA2156074076SERPINA3c.731T= (p.Met244=)
c.77T= (p.Met26=)
c.1694T=
n.58-3059T=
c.644-3059T= (n.644-3059T=)
14g.94619283G>ACA390855745SERPINA3c.732G>A (p.Met244Ile)
c.78G>A (p.Met26Ile)
c.1695G>A
n.58-3058G>A
c.644-3058G>A (n.644-3058G>A)
 gnomAD v4
14g.94619283G>CCA390855749SERPINA3c.732G>C (p.Met244Ile)
c.78G>C (p.Met26Ile)
c.1695G>C
n.58-3058G>C
c.644-3058G>C (n.644-3058G>C)
14g.94619283G>TCA390855747SERPINA3c.732G>T (p.Met244Ile)
c.78G>T (p.Met26Ile)
c.1695G>T
n.58-3058G>T
c.644-3058G>T (n.644-3058G>T)
14g.94619284A=CA2156074077SERPINA3c.733A= (p.Ser245=)
c.79A= (p.Ser27=)
c.1696A=
n.58-3057A=
c.644-3057A= (n.644-3057A=)
14g.94619284A>CCA390855752SERPINA3c.733A>C (p.Ser245Arg)
c.79A>C (p.Ser27Arg)
c.1696A>C
n.58-3057A>C
c.644-3057A>C (n.644-3057A>C)
14g.94619284A>GCA390855756SERPINA3c.733A>G (p.Ser245Gly)
c.79A>G (p.Ser27Gly)
c.1696A>G
n.58-3057A>G
c.644-3057A>G (n.644-3057A>G)
 dbSNP gnomAD v2
14g.94619284A>TCA390855753SERPINA3c.733A>T (p.Ser245Cys)
c.79A>T (p.Ser27Cys)
c.1696A>T
n.58-3057A>T
c.644-3057A>T (n.644-3057A>T)
14g.94619285G>ACA390855758SERPINA3c.734G>A (p.Ser245Asn)
c.80G>A (p.Ser27Asn)
c.1697G>A
n.58-3056G>A
c.644-3056G>A (n.644-3056G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.94619285G>CCA390855762SERPINA3c.734G>C (p.Ser245Thr)
c.80G>C (p.Ser27Thr)
c.1697G>C
n.58-3056G>C
c.644-3056G>C (n.644-3056G>C)
14g.94619285G=CA2156074078SERPINA3c.734G= (p.Ser245=)
c.80G= (p.Ser27=)
c.1697G=
n.58-3056G=
c.644-3056G= (n.644-3056G=)
14g.94619285G>TCA390855760SERPINA3c.734G>T (p.Ser245Ile)
c.80G>T (p.Ser27Ile)
c.1697G>T
n.58-3056G>T
c.644-3056G>T (n.644-3056G>T)
14g.94619286T>ACA390855764SERPINA3c.735T>A (p.Ser245Arg)
c.81T>A (p.Ser27Arg)
c.1698T>A
n.58-3055T>A
c.644-3055T>A (n.644-3055T>A)
 gnomAD v4
14g.94619286T>CCA487625207SERPINA3c.735T>C (p.Ser245=)
c.81T>C (p.Ser27=)
c.1698T>C
n.58-3055T>C
c.644-3055T>C (n.644-3055T>C)
14g.94619286T>GCA390855766SERPINA3c.735T>G (p.Ser245Arg)
c.81T>G (p.Ser27Arg)
c.1698T>G
n.58-3055T>G
c.644-3055T>G (n.644-3055T>G)
14g.94619287T>ACA390855768SERPINA3c.736T>A (p.Leu246Met)
c.82T>A (p.Leu28Met)
c.1699T>A
n.58-3054T>A
c.644-3054T>A (n.644-3054T>A)
14g.94619287T>CCA487625208SERPINA3c.736T>C (p.Leu246=)
c.82T>C (p.Leu28=)
c.1699T>C
n.58-3054T>C
c.644-3054T>C (n.644-3054T>C)
14g.94619287T>GCA390855770SERPINA3c.736T>G (p.Leu246Val)
c.82T>G (p.Leu28Val)
c.1699T>G
n.58-3054T>G
c.644-3054T>G (n.644-3054T>G)
14g.94619288T>ACA390855772SERPINA3c.737T>A (p.Leu246Ter)
c.83T>A (p.Leu28Ter)
c.1700T>A
n.58-3053T>A
c.644-3053T>A (n.644-3053T>A)
14g.94619288T>CCA390855773SERPINA3c.737T>C (p.Leu246Ser)
c.83T>C (p.Leu28Ser)
c.1700T>C
n.58-3053T>C
c.644-3053T>C (n.644-3053T>C)
 dbSNP gnomAD v3 gnomAD v4
14g.94619288T>GCA390855775SERPINA3c.737T>G (p.Leu246Trp)
c.83T>G (p.Leu28Trp)
c.1700T>G
n.58-3053T>G
c.644-3053T>G (n.644-3053T>G)
14g.94619288T=CA2156074079SERPINA3c.737T= (p.Leu246=)
c.83T= (p.Leu28=)
c.1700T=
n.58-3053T=
c.644-3053T= (n.644-3053T=)
14g.94619289G>ACA487625209SERPINA3c.738G>A (p.Leu246=)
c.84G>A (p.Leu28=)
c.1701G>A
n.58-3052G>A
c.644-3052G>A (n.644-3052G>A)
 gnomAD v4
14g.94619289G>CCA390855777SERPINA3c.738G>C (p.Leu246Phe)
c.84G>C (p.Leu28Phe)
c.1701G>C
n.58-3052G>C
c.644-3052G>C (n.644-3052G>C)
14g.94619289G>TCA390855778SERPINA3c.738G>T (p.Leu246Phe)
c.84G>T (p.Leu28Phe)
c.1701G>T
n.58-3052G>T
c.644-3052G>T (n.644-3052G>T)
 gnomAD v4
14g.94619290C>ACA390855781SERPINA3c.739C>A (p.His247Asn)
c.85C>A (p.His29Asn)
c.1702C>A
n.58-3051C>A
c.644-3051C>A (n.644-3051C>A)
14g.94619290C>GCA390855783SERPINA3c.739C>G (p.His247Asp)
c.85C>G (p.His29Asp)
c.1702C>G
n.58-3051C>G
c.644-3051C>G (n.644-3051C>G)
14g.94619290C>TCA390855784SERPINA3c.739C>T (p.His247Tyr)
c.85C>T (p.His29Tyr)
c.1702C>T
n.58-3051C>T
c.644-3051C>T (n.644-3051C>T)
14g.94619291A>CCA390855789SERPINA3c.740A>C (p.His247Pro)
c.86A>C (p.His29Pro)
c.1703A>C
n.58-3050A>C
c.644-3050A>C (n.644-3050A>C)
14g.94619291A>GCA390855786SERPINA3c.740A>G (p.His247Arg)
c.86A>G (p.His29Arg)
c.1703A>G
n.58-3050A>G
c.644-3050A>G (n.644-3050A>G)
14g.94619291A>TCA390855787SERPINA3c.740A>T (p.His247Leu)
c.86A>T (p.His29Leu)
c.1703A>T
n.58-3050A>T
c.644-3050A>T (n.644-3050A>T)
14g.94619292T>ACA390855791SERPINA3c.741T>A (p.His247Gln)
c.87T>A (p.His29Gln)
c.1704T>A
n.58-3049T>A
c.644-3049T>A (n.644-3049T>A)
 gnomAD v4
14g.94619292T>CCA487625212SERPINA3c.741T>C (p.His247=)
c.87T>C (p.His29=)
c.1704T>C
n.58-3049T>C
c.644-3049T>C (n.644-3049T>C)
14g.94619292T>GCA390855793SERPINA3c.741T>G (p.His247Gln)
c.87T>G (p.His29Gln)
c.1704T>G
n.58-3049T>G
c.644-3049T>G (n.644-3049T>G)
14g.94619293C>ACA390855796SERPINA3c.742C>A (p.His248Asn)
c.88C>A (p.His30Asn)
c.1705C>A
n.58-3048C>A
c.644-3048C>A (n.644-3048C>A)
14g.94619293C=CA2156074080SERPINA3c.742C= (p.His248=)
c.88C= (p.His30=)
c.1705C=
n.58-3048C=
c.644-3048C= (n.644-3048C=)
14g.94619293C>GCA390855798SERPINA3c.742C>G (p.His248Asp)
c.88C>G (p.His30Asp)
c.1705C>G
n.58-3048C>G
c.644-3048C>G (n.644-3048C>G)
14g.94619293C>TCA7329877SERPINA3c.742C>T (p.His248Tyr)
c.88C>T (p.His30Tyr)
c.1705C>T
n.58-3048C>T
c.644-3048C>T (n.644-3048C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619294A>CCA390855802SERPINA3c.743A>C (p.His248Pro)
c.89A>C (p.His30Pro)
c.1706A>C
n.58-3047A>C
c.644-3047A>C (n.644-3047A>C)
14g.94619294A>GCA390855804SERPINA3c.743A>G (p.His248Arg)
c.89A>G (p.His30Arg)
c.1706A>G
n.58-3047A>G
c.644-3047A>G (n.644-3047A>G)
14g.94619294A>TCA390855807SERPINA3c.743A>T (p.His248Leu)
c.89A>T (p.His30Leu)
c.1706A>T
n.58-3047A>T
c.644-3047A>T (n.644-3047A>T)
14g.94619295C>ACA390855809SERPINA3c.744C>A (p.His248Gln)
c.90C>A (p.His30Gln)
c.1707C>A
n.58-3046C>A
c.644-3046C>A (n.644-3046C>A)
14g.94619295C=CA2156074081SERPINA3c.744C= (p.His248=)
c.90C= (p.His30=)
c.1707C=
n.58-3046C=
c.644-3046C= (n.644-3046C=)
14g.94619295C>GCA390855811SERPINA3c.744C>G (p.His248Gln)
c.90C>G (p.His30Gln)
c.1707C>G
n.58-3046C>G
c.644-3046C>G (n.644-3046C>G)
14g.94619295C>TCA7329878SERPINA3c.744C>T (p.His248=)
c.90C>T (p.His30=)
c.1707C>T
n.58-3046C>T
c.644-3046C>T (n.644-3046C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619296C>ACA390855815SERPINA3c.745C>A (p.Leu249Met)
c.91C>A (p.Leu31Met)
c.1708C>A
n.58-3045C>A
c.644-3045C>A (n.644-3045C>A)
14g.94619296C>GCA390855817SERPINA3c.745C>G (p.Leu249Val)
c.91C>G (p.Leu31Val)
c.1708C>G
n.58-3045C>G
c.644-3045C>G (n.644-3045C>G)
14g.94619296C>TCA487625213SERPINA3c.745C>T (p.Leu249=)
c.91C>T (p.Leu31=)
c.1708C>T
n.58-3045C>T
c.644-3045C>T (n.644-3045C>T)
14g.94619297T>ACA390855820SERPINA3c.746T>A (p.Leu249Gln)
c.92T>A (p.Leu31Gln)
c.1709T>A
n.58-3044T>A
c.644-3044T>A (n.644-3044T>A)
14g.94619297T>CCA390855821SERPINA3c.746T>C (p.Leu249Pro)
c.92T>C (p.Leu31Pro)
c.1709T>C
n.58-3044T>C
c.644-3044T>C (n.644-3044T>C)
14g.94619297T>GCA390855823SERPINA3c.746T>G (p.Leu249Arg)
c.92T>G (p.Leu31Arg)
c.1709T>G
n.58-3044T>G
c.644-3044T>G (n.644-3044T>G)
 gnomAD v4
14g.94619298G>ACA487625216SERPINA3c.747G>A (p.Leu249=)
c.93G>A (p.Leu31=)
c.1710G>A
n.58-3043G>A
c.644-3043G>A (n.644-3043G>A)
14g.94619298G>CCA487625215SERPINA3c.747G>C (p.Leu249=)
c.93G>C (p.Leu31=)
c.1710G>C
n.58-3043G>C
c.644-3043G>C (n.644-3043G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94619298G=CA2156074082SERPINA3c.747G= (p.Leu249=)
c.93G= (p.Leu31=)
c.1710G=
n.58-3043G=
c.644-3043G= (n.644-3043G=)
14g.94619298G>TCA487625214SERPINA3c.747G>T (p.Leu249=)
c.93G>T (p.Leu31=)
c.1710G>T
n.58-3043G>T
c.644-3043G>T (n.644-3043G>T)
14g.94619299A>CCA390855825SERPINA3c.748A>C (p.Thr250Pro)
c.94A>C (p.Thr32Pro)
c.1711A>C
n.58-3042A>C
c.644-3042A>C (n.644-3042A>C)
14g.94619299A>GCA390855827SERPINA3c.748A>G (p.Thr250Ala)
c.94A>G (p.Thr32Ala)
c.1711A>G
n.58-3042A>G
c.644-3042A>G (n.644-3042A>G)
14g.94619299A>TCA390855829SERPINA3c.748A>T (p.Thr250Ser)
c.94A>T (p.Thr32Ser)
c.1711A>T
n.58-3042A>T
c.644-3042A>T (n.644-3042A>T)
14g.94619300C>ACA390855832SERPINA3c.749C>A (p.Thr250Asn)
c.95C>A (p.Thr32Asn)
c.1712C>A
n.58-3041C>A
c.644-3041C>A (n.644-3041C>A)
14g.94619300C=CA2156074083SERPINA3c.749C= (p.Thr250=)
c.95C= (p.Thr32=)
c.1712C=
n.58-3041C=
c.644-3041C= (n.644-3041C=)
14g.94619300C>GCA390855834SERPINA3c.749C>G (p.Thr250Ser)
c.95C>G (p.Thr32Ser)
c.1712C>G
n.58-3041C>G
c.644-3041C>G (n.644-3041C>G)
14g.94619300C>TCA390855836SERPINA3c.749C>T (p.Thr250Ile)
c.95C>T (p.Thr32Ile)
c.1712C>T
n.58-3041C>T
c.644-3041C>T (n.644-3041C>T)
 dbSNP gnomAD v2
14g.94619301T>ACA487625217SERPINA3c.750T>A (p.Thr250=)
c.96T>A (p.Thr32=)
c.1713T>A
n.58-3040T>A
c.644-3040T>A (n.644-3040T>A)
14g.94619301T>CCA487625218SERPINA3c.750T>C (p.Thr250=)
c.96T>C (p.Thr32=)
c.1713T>C
n.58-3040T>C
c.644-3040T>C (n.644-3040T>C)
14g.94619301T>GCA487625219SERPINA3c.750T>G (p.Thr250=)
c.96T>G (p.Thr32=)
c.1713T>G
n.58-3040T>G
c.644-3040T>G (n.644-3040T>G)
14g.94619302A=CA2156074084SERPINA3c.751A= (p.Ile251=)
c.97A= (p.Ile33=)
c.1714A=
n.58-3039A=
c.644-3039A= (n.644-3039A=)
14g.94619302A>CCA390855837SERPINA3c.751A>C (p.Ile251Leu)
c.97A>C (p.Ile33Leu)
c.1714A>C
n.58-3039A>C
c.644-3039A>C (n.644-3039A>C)
14g.94619302A>GCA390855838SERPINA3c.751A>G (p.Ile251Val)
c.97A>G (p.Ile33Val)
c.1714A>G
n.58-3039A>G
c.644-3039A>G (n.644-3039A>G)
 dbSNP gnomAD v2 gnomAD v4
14g.94619302A>TCA390855839SERPINA3c.751A>T (p.Ile251Leu)
c.97A>T (p.Ile33Leu)
c.1714A>T
n.58-3039A>T
c.644-3039A>T (n.644-3039A>T)
14g.94619303T>ACA390855842SERPINA3c.752T>A (p.Ile251Lys)
c.98T>A (p.Ile33Lys)
c.1715T>A
n.58-3038T>A
c.644-3038T>A (n.644-3038T>A)
14g.94619303T>CCA390855841SERPINA3c.752T>C (p.Ile251Thr)
c.98T>C (p.Ile33Thr)
c.1715T>C
n.58-3038T>C
c.644-3038T>C (n.644-3038T>C)
 dbSNP gnomAD v4 COSMIC
14g.94619303T>GCA390855840SERPINA3c.752T>G (p.Ile251Arg)
c.98T>G (p.Ile33Arg)
c.1715T>G
n.58-3038T>G
c.644-3038T>G (n.644-3038T>G)
14g.94619303T=CA2156074085SERPINA3c.752T= (p.Ile251=)
c.98T= (p.Ile33=)
c.1715T=
n.58-3038T=
c.644-3038T= (n.644-3038T=)
14g.94619304A>CCA487625220SERPINA3c.753A>C (p.Ile251=)
c.99A>C (p.Ile33=)
c.1716A>C
n.58-3037A>C
c.644-3037A>C (n.644-3037A>C)
14g.94619304A>GCA390855843SERPINA3c.753A>G (p.Ile251Met)
c.99A>G (p.Ile33Met)
c.1716A>G
n.58-3037A>G
c.644-3037A>G (n.644-3037A>G)
14g.94619304A>TCA487625221SERPINA3c.753A>T (p.Ile251=)
c.99A>T (p.Ile33=)
c.1716A>T
n.58-3037A>T
c.644-3037A>T (n.644-3037A>T)
14g.94619305C>ACA390855844SERPINA3c.754C>A (p.Pro252Thr)
c.100C>A (p.Pro34Thr)
c.1717C>A
n.58-3036C>A
c.644-3036C>A (n.644-3036C>A)
 gnomAD v4
14g.94619305C=CA2156074086SERPINA3c.754C= (p.Pro252=)
c.100C= (p.Pro34=)
c.1717C=
n.58-3036C=
c.644-3036C= (n.644-3036C=)
14g.94619305C>GCA127757SERPINA3c.754C>G (p.Pro252Ala)
c.100C>G (p.Pro34Ala)
c.1717C>G
n.58-3036C>G
c.644-3036C>G (n.644-3036C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94619305C>TCA7329879SERPINA3c.754C>T (p.Pro252Ser)
c.100C>T (p.Pro34Ser)
c.1717C>T
n.58-3036C>T
c.644-3036C>T (n.644-3036C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.94619306C>ACA390855845SERPINA3c.755C>A (p.Pro252His)
c.101C>A (p.Pro34His)
c.1718C>A
n.58-3035C>A
c.644-3035C>A (n.644-3035C>A)
14g.94619306C>GCA390855846SERPINA3c.755C>G (p.Pro252Arg)
c.101C>G (p.Pro34Arg)
c.1718C>G
n.58-3035C>G
c.644-3035C>G (n.644-3035C>G)
14g.94619306C>TCA390855847SERPINA3c.755C>T (p.Pro252Leu)
c.101C>T (p.Pro34Leu)
c.1718C>T
n.58-3035C>T
c.644-3035C>T (n.644-3035C>T)
 gnomAD v4
14g.94619307T>ACA487625222SERPINA3c.756T>A (p.Pro252=)
c.102T>A (p.Pro34=)
c.1719T>A
n.58-3034T>A
c.644-3034T>A (n.644-3034T>A)
14g.94619307T>CCA487625223SERPINA3c.756T>C (p.Pro252=)
c.102T>C (p.Pro34=)
c.1719T>C
n.58-3034T>C
c.644-3034T>C (n.644-3034T>C)
14g.94619307T>GCA487625224SERPINA3c.756T>G (p.Pro252=)
c.102T>G (p.Pro34=)
c.1719T>G
n.58-3034T>G
c.644-3034T>G (n.644-3034T>G)
14g.94619308delCA2575615679SERPINA3c.757del (p.Tyr253ThrfsTer14)
c.103del (p.Tyr35ThrfsTer14)
c.1720del
n.58-3033del
c.644-3033del (n.644-3033del)

Number of alleles fetched