Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382820T>ACA390849985SERPINA1c.418A>T (p.Asn140Tyr)
c.160A>T (p.Asn54Tyr)
14g.94382820T>CCA390849987SERPINA1c.418A>G (p.Asn140Asp)
c.160A>G (p.Asn54Asp)
14g.94382820T>GCA390849988SERPINA1c.418A>C (p.Asn140His)
c.160A>C (p.Asn54His)
14g.94382821G>ACA265864138SERPINA1c.417C>T (p.Gly139=)
c.159C>T (p.Gly53=)
dbSNP
14g.94382821G>CCA487841075SERPINA1c.417C>G (p.Gly139=)
c.159C>G (p.Gly53=)
14g.94382821G=CA2155954791SERPINA1c.417C= (p.Gly139=)
c.159C= (p.Gly53=)
14g.94382821G>TCA487841077SERPINA1c.417C>A (p.Gly139=)
c.159C>A (p.Gly53=)
14g.94382822C>ACA390849992SERPINA1c.416G>T (p.Gly139Val)
c.158G>T (p.Gly53Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.94382822C=CA2155954792SERPINA1c.416G= (p.Gly139=)
c.158G= (p.Gly53=)
14g.94382822C>GCA7327502SERPINA1c.416G>C (p.Gly139Ala)
c.158G>C (p.Gly53Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382822C>TCA390849989SERPINA1c.416G>A (p.Gly139Asp)
c.158G>A (p.Gly53Asp)
dbSNP gnomAD v4
14g.94382823C>ACA390849993SERPINA1c.415G>T (p.Gly139Cys)
c.157G>T (p.Gly53Cys)
ClinVar
14g.94382823C=CA2155954793SERPINA1c.415G= (p.Gly139=)
c.157G= (p.Gly53=)
14g.94382823C>GCA390849995SERPINA1c.415G>C (p.Gly139Arg)
c.157G>C (p.Gly53Arg)
14g.94382823C>TCA127734SERPINA1c.415G>A (p.Gly139Ser)
c.157G>A (p.Gly53Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382824G>ACA7327503SERPINA1c.414C>T (p.Thr138=)
c.156C>T (p.Thr52=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.94382824G>CCA487841081SERPINA1c.414C>G (p.Thr138=)
c.156C>G (p.Thr52=)
14g.94382824G=CA2155954794SERPINA1c.414C= (p.Thr138=)
c.156C= (p.Thr52=)
14g.94382824G>TCA487841083SERPINA1c.414C>A (p.Thr138=)
c.156C>A (p.Thr52=)
14g.94382825G>ACA390849998SERPINA1c.413C>T (p.Thr138Ile)
c.155C>T (p.Thr52Ile)
14g.94382825G>CCA390850000SERPINA1c.413C>G (p.Thr138Ser)
c.155C>G (p.Thr52Ser)
14g.94382825G>TCA390850001SERPINA1c.413C>A (p.Thr138Asn)
c.155C>A (p.Thr52Asn)
14g.94382826T>ACA390850003SERPINA1c.412A>T (p.Thr138Ser)
c.154A>T (p.Thr52Ser)
14g.94382826T>CCA390850005SERPINA1c.412A>G (p.Thr138Ala)
c.154A>G (p.Thr52Ala)
14g.94382826T>GCA390850006SERPINA1c.412A>C (p.Thr138Pro)
c.154A>C (p.Thr52Pro)
14g.94382827G>ACA487841085SERPINA1c.411C>T (p.Thr137=)
c.153C>T (p.Thr51=)
14g.94382827G>CCA487841086SERPINA1c.411C>G (p.Thr137=)
c.153C>G (p.Thr51=)
ClinVar dbSNP gnomAD v4
14g.94382827G=CA2155954795SERPINA1c.411C= (p.Thr137=)
c.153C= (p.Thr51=)
14g.94382827G>TCA487841087SERPINA1c.411C>A (p.Thr137=)
c.153C>A (p.Thr51=)
gnomAD v4
14g.94382828G>ACA390850008SERPINA1c.410C>T (p.Thr137Ile)
c.152C>T (p.Thr51Ile)
14g.94382828G>CCA7327504SERPINA1c.410C>G (p.Thr137Ser)
c.152C>G (p.Thr51Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.94382828G=CA2155954796SERPINA1c.410C= (p.Thr137=)
c.152C= (p.Thr51=)
14g.94382828G>TCA390850010SERPINA1c.410C>A (p.Thr137Asn)
c.152C>A (p.Thr51Asn)
14g.94382829T>ACA390850014SERPINA1c.409A>T (p.Thr137Ser)
c.151A>T (p.Thr51Ser)
14g.94382829T>CCA390850012SERPINA1c.409A>G (p.Thr137Ala)
c.151A>G (p.Thr51Ala)
14g.94382829T>GCA390850013SERPINA1c.409A>C (p.Thr137Pro)
c.151A>C (p.Thr51Pro)
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=)

Number of alleles fetched