Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.94382814G>ACA183072SERPINA1c.424C>T (p.Leu142=)
c.166C>T (p.Leu56=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382814G>CCA390849964SERPINA1c.424C>G (p.Leu142Val)
c.166C>G (p.Leu56Val)
14g.94382814G=CA2155954788SERPINA1c.424C= (p.Leu142=)
c.166C= (p.Leu56=)
14g.94382814G>TCA390849965SERPINA1c.424C>A (p.Leu142Met)
c.166C>A (p.Leu56Met)
14g.94382815G>ACA7327501SERPINA1c.423C>T (p.Gly141=)
c.165C>T (p.Gly55=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.94382815G>CCA487841073SERPINA1c.423C>G (p.Gly141=)
c.165C>G (p.Gly55=)
14g.94382815G=CA2155954789SERPINA1c.423C= (p.Gly141=)
c.165C= (p.Gly55=)
14g.94382815G>TCA487841074SERPINA1c.423C>A (p.Gly141=)
c.165C>A (p.Gly55=)
14g.94382816C>ACA390849970SERPINA1c.422G>T (p.Gly141Val)
c.164G>T (p.Gly55Val)
gnomAD v4
14g.94382816C>GCA390849969SERPINA1c.422G>C (p.Gly141Ala)
c.164G>C (p.Gly55Ala)
14g.94382816C>TCA390849968SERPINA1c.422G>A (p.Gly141Asp)
c.164G>A (p.Gly55Asp)
14g.94382817C>ACA390849972SERPINA1c.421G>T (p.Gly141Cys)
c.163G>T (p.Gly55Cys)
14g.94382817C>GCA390849973SERPINA1c.421G>C (p.Gly141Arg)
c.163G>C (p.Gly55Arg)
14g.94382817C>TCA390849975SERPINA1c.421G>A (p.Gly141Ser)
c.163G>A (p.Gly55Ser)
14g.94382818A=CA2155954790SERPINA1c.420T= (p.Asn140=)
c.162T= (p.Asn54=)
14g.94382818A>CCA390849977SERPINA1c.420T>G (p.Asn140Lys)
c.162T>G (p.Asn54Lys)
14g.94382818A>GCA265864136SERPINA1c.420T>C (p.Asn140=)
c.162T>C (p.Asn54=)
dbSNP
14g.94382818A>TCA390849979SERPINA1c.420T>A (p.Asn140Lys)
c.162T>A (p.Asn54Lys)
14g.94382819T>ACA390849980SERPINA1c.419A>T (p.Asn140Ile)
c.161A>T (p.Asn54Ile)
14g.94382819T>CCA390849982SERPINA1c.419A>G (p.Asn140Ser)
c.161A>G (p.Asn54Ser)
14g.94382819T>GCA390849983SERPINA1c.419A>C (p.Asn140Thr)
c.161A>C (p.Asn54Thr)
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

Number of alleles fetched