Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382830C>ACA487841089SERPINA1c.408G>T (p.Leu136=)
c.150G>T (p.Leu50=)
14g.94382830C>GCA487841093SERPINA1c.408G>C (p.Leu136=)
c.150G>C (p.Leu50=)
14g.94382830C>TCA487841091SERPINA1c.408G>A (p.Leu136=)
c.150G>A (p.Leu50=)
14g.94382831A=CA2155954797SERPINA1c.407T= (p.Leu136=)
c.149T= (p.Leu50=)
14g.94382831A>CCA390850015SERPINA1c.407T>G (p.Leu136Arg)
c.149T>G (p.Leu50Arg)
dbSNP
14g.94382831A>GCA390850016SERPINA1c.407T>C (p.Leu136Pro)
c.149T>C (p.Leu50Pro)
gnomAD v4
14g.94382831A>TCA390850017SERPINA1c.407T>A (p.Leu136Gln)
c.149T>A (p.Leu50Gln)
14g.94382832G>ACA487841095SERPINA1c.406C>T (p.Leu136=)
c.148C>T (p.Leu50=)
14g.94382832G>CCA390850018SERPINA1c.406C>G (p.Leu136Val)
c.148C>G (p.Leu50Val)
14g.94382832G>TCA390850019SERPINA1c.406C>A (p.Leu136Met)
c.148C>A (p.Leu50Met)
14g.94382833C>ACA390850020SERPINA1c.405G>T (p.Gln135His)
c.147G>T (p.Gln49His)
dbSNP
14g.94382833C=CA2155954798SERPINA1c.405G= (p.Gln135=)
c.147G= (p.Gln49=)
14g.94382833C>GCA390850022SERPINA1c.405G>C (p.Gln135His)
c.147G>C (p.Gln49His)
14g.94382833C>TCA487841096SERPINA1c.405G>A (p.Gln135=)
c.147G>A (p.Gln49=)
14g.94382834T>ACA390850024SERPINA1c.404A>T (p.Gln135Leu)
c.146A>T (p.Gln49Leu)
14g.94382834T>CCA390850026SERPINA1c.404A>G (p.Gln135Arg)
c.146A>G (p.Gln49Arg)
14g.94382834T>GCA390850027SERPINA1c.404A>C (p.Gln135Pro)
c.146A>C (p.Gln49Pro)
14g.94382835G>ACA390850029SERPINA1c.403C>T (p.Gln135Ter)
c.145C>T (p.Gln49Ter)
ClinVar
14g.94382835G>CCA390850031SERPINA1c.403C>G (p.Gln135Glu)
c.145C>G (p.Gln49Glu)
14g.94382835G>TCA390850033SERPINA1c.403C>A (p.Gln135Lys)
c.145C>A (p.Gln49Lys)
14g.94382836G>ACA487841099SERPINA1c.402C>T (p.Leu134=)
c.144C>T (p.Leu48=)
14g.94382836G>CCA487841100SERPINA1c.402C>G (p.Leu134=)
c.144C>G (p.Leu48=)
dbSNP gnomAD v4
14g.94382836G=CA2155954799SERPINA1c.402C= (p.Leu134=)
c.144C= (p.Leu48=)
14g.94382836G>TCA487841101SERPINA1c.402C>A (p.Leu134=)
c.144C>A (p.Leu48=)
dbSNP gnomAD v3 gnomAD v4
14g.94382837A=CA2155954800SERPINA1c.401T= (p.Leu134=)
c.143T= (p.Leu48=)
14g.94382837A>CCA390850036SERPINA1c.401T>G (p.Leu134Arg)
c.143T>G (p.Leu48Arg)
14g.94382837A>GCA7327505SERPINA1c.401T>C (p.Leu134Pro)
c.143T>C (p.Leu48Pro)
dbSNP ExAC
14g.94382837A>TCA390850035SERPINA1c.401T>A (p.Leu134His)
c.143T>A (p.Leu48His)
14g.94382838G>ACA390850037SERPINA1c.400C>T (p.Leu134Phe)
c.142C>T (p.Leu48Phe)
14g.94382838G>CCA390850040SERPINA1c.400C>G (p.Leu134Val)
c.142C>G (p.Leu48Val)
14g.94382838G=CA2155954802SERPINA1c.400C= (p.Leu134=)
c.142C= (p.Leu48=)
14g.94382838G>TCA390850039SERPINA1c.400C>A (p.Leu134Ile)
c.142C>A (p.Leu48Ile)
dbSNP
14g.94382838_94382839delinsGCCA2155954801SERPINA1c.399_400delinsGC (p.Gln133=)
c.141_142delinsGC (p.Gln47=)
14g.94382839delCA616114864SERPINA1c.399del (p.Gln133HisfsTer4)
c.141del (p.Gln47HisfsTer4)
dbSNP gnomAD v2 gnomAD v4
14g.94382839C>ACA390850042SERPINA1c.399G>T (p.Gln133His)
c.141G>T (p.Gln47His)
14g.94382839C=CA2155954803SERPINA1c.399G= (p.Gln133=)
c.141G= (p.Gln47=)
14g.94382839C>GCA390850044SERPINA1c.399G>C (p.Gln133His)
c.141G>C (p.Gln47His)
14g.94382839C>TCA487841105SERPINA1c.399G>A (p.Gln133=)
c.141G>A (p.Gln47=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382840T>ACA390850045SERPINA1c.398A>T (p.Gln133Leu)
c.140A>T (p.Gln47Leu)
14g.94382840T>CCA390850047SERPINA1c.398A>G (p.Gln133Arg)
c.140A>G (p.Gln47Arg)
14g.94382840T>GCA390850048SERPINA1c.398A>C (p.Gln133Pro)
c.140A>C (p.Gln47Pro)
14g.94382841G>ACA390850050SERPINA1c.397C>T (p.Gln133Ter)
c.139C>T (p.Gln47Ter)
14g.94382841G>CCA390850052SERPINA1c.397C>G (p.Gln133Glu)
c.139C>G (p.Gln47Glu)
14g.94382841G>TCA390850053SERPINA1c.397C>A (p.Gln133Lys)
c.139C>A (p.Gln47Lys)
14g.94382842G>ACA487841108SERPINA1c.396C>T (p.Ser132=)
c.138C>T (p.Ser46=)
ClinVar dbSNP gnomAD v3 gnomAD v4
14g.94382842G>CCA390850055SERPINA1c.396C>G (p.Ser132Arg)
c.138C>G (p.Ser46Arg)
gnomAD v4
14g.94382842G=CA2155954804SERPINA1c.396C= (p.Ser132=)
c.138C= (p.Ser46=)
14g.94382842G>TCA390850056SERPINA1c.396C>A (p.Ser132Arg)
c.138C>A (p.Ser46Arg)
gnomAD v4
14g.94382843C>ACA390850058SERPINA1c.395G>T (p.Ser132Ile)
c.137G>T (p.Ser46Ile)
14g.94382843C=CA2155954805SERPINA1c.395G= (p.Ser132=)
c.137G= (p.Ser46=)

Number of alleles fetched