Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3254627_3254642dupCA10577523MEFVc.427_442dup (p.Glu148AlafsTer?)
c.277+1670_277+1685dup (p.=)
n.277+1670_277+1685dup (p.=)
n.427_442dup (p.Glu148AlafsTer?)
ClinVar dbSNP gnomAD
16g.3254637C>ACA394481579MEFVc.431G>T (p.Cys144Phe)
c.277+1674G>T (p.=)
n.277+1674G>T (p.=)
n.431G>T (p.Cys144Phe)
16g.3254637C>GCA394481580MEFVc.431G>C (p.Cys144Ser)
c.277+1674G>C (p.=)
n.277+1674G>C (p.=)
n.431G>C (p.Cys144Ser)
16g.3254637C>TCA7860427MEFVc.431G>A (p.Cys144Tyr)
c.277+1674G>A (p.=)
n.277+1674G>A (p.=)
n.431G>A (p.Cys144Tyr)
dbSNP ExAC gnomAD
16g.3254638A>CCA394481585MEFVc.430T>G (p.Cys144Gly)
c.277+1673T>G (p.=)
n.277+1673T>G (p.=)
n.430T>G (p.Cys144Gly)
16g.3254638A>GCA394481591MEFVc.430T>C (p.Cys144Arg)
c.277+1673T>C (p.=)
n.277+1673T>C (p.=)
n.430T>C (p.Cys144Arg)
16g.3254638A>TCA394481599MEFVc.430T>A (p.Cys144Ser)
c.277+1673T>A (p.=)
n.277+1673T>A (p.=)
n.430T>A (p.Cys144Ser)
16g.3254639C>ACA493384345MEFVc.429G>T (p.Arg143=)
c.277+1672G>T (p.=)
n.277+1672G>T (p.=)
n.429G>T (p.Arg143=)
16g.3254639C>GCA493384347MEFVc.429G>C (p.Arg143=)
c.277+1672G>C (p.=)
n.277+1672G>C (p.=)
n.429G>C (p.Arg143=)
16g.3254639C>TCA493384346MEFVc.429G>A (p.Arg143=)
c.277+1672G>A (p.=)
n.277+1672G>A (p.=)
n.429G>A (p.Arg143=)
gnomAD
16g.3254640C>ACA394481601MEFVc.428G>T (p.Arg143Leu)
c.277+1671G>T (p.=)
n.277+1671G>T (p.=)
n.428G>T (p.Arg143Leu)
16g.3254640C>GCA280604MEFVc.428G>C (p.Arg143Pro)
c.277+1671G>C (p.=)
n.277+1671G>C (p.=)
n.428G>C (p.Arg143Pro)
ClinVar dbSNP
16g.3254640C>TCA7860428MEFVc.428G>A (p.Arg143Gln)
c.277+1671G>A (p.=)
n.277+1671G>A (p.=)
n.428G>A (p.Arg143Gln)
dbSNP ExAC gnomAD
16g.3254641G>ACA394481611MEFVc.427C>T (p.Arg143Trp)
c.277+1670C>T (p.=)
n.277+1670C>T (p.=)
n.427C>T (p.Arg143Trp)
16g.3254641G>CCA394481610MEFVc.427C>G (p.Arg143Gly)
c.277+1670C>G (p.=)
n.277+1670C>G (p.=)
n.427C>G (p.Arg143Gly)
16g.3254641G>TCA7860429MEFVc.427C>A (p.Arg143=)
c.277+1670C>A (p.=)
n.277+1670C>A (p.=)
n.427C>A (p.Arg143=)
dbSNP ExAC gnomAD
16g.3254642C>ACA493384356MEFVc.426G>T (p.Leu142=)
c.277+1669G>T (p.=)
n.277+1669G>T (p.=)
n.426G>T (p.Leu142=)
16g.3254642C>GCA493384357MEFVc.426G>C (p.Leu142=)
c.277+1669G>C (p.=)
n.277+1669G>C (p.=)
n.426G>C (p.Leu142=)
gnomAD
16g.3254642C>TCA493384358MEFVc.426G>A (p.Leu142=)
c.277+1669G>A (p.=)
n.277+1669G>A (p.=)
n.426G>A (p.Leu142=)
16g.3254643A>CCA394481615MEFVc.425T>G (p.Leu142Arg)
c.277+1668T>G (p.=)
n.277+1668T>G (p.=)
n.425T>G (p.Leu142Arg)
16g.3254643A>GCA394481618MEFVc.425T>C (p.Leu142Pro)
c.277+1668T>C (p.=)
n.277+1668T>C (p.=)
n.425T>C (p.Leu142Pro)
gnomAD
16g.3254643A>TCA394481622MEFVc.425T>A (p.Leu142Gln)
c.277+1668T>A (p.=)
n.277+1668T>A (p.=)
n.425T>A (p.Leu142Gln)
16g.3254644G>ACA493384360MEFVc.424C>T (p.Leu142=)
c.277+1667C>T (p.=)
n.277+1667C>T (p.=)
n.424C>T (p.Leu142=)
16g.3254644G>CCA394481625MEFVc.424C>G (p.Leu142Val)
c.277+1667C>G (p.=)
n.277+1667C>G (p.=)
n.424C>G (p.Leu142Val)
16g.3254644G>TCA394481628MEFVc.424C>A (p.Leu142Met)
c.277+1667C>A (p.=)
n.277+1667C>A (p.=)
n.424C>A (p.Leu142Met)
16g.3254645G>ACA493384363MEFVc.423C>T (p.Ser141=)
c.277+1666C>T (p.=)
n.277+1666C>T (p.=)
n.423C>T (p.Ser141=)
gnomAD
16g.3254645G>CCA394481632MEFVc.423C>G (p.Ser141Arg)
c.277+1666C>G (p.=)
n.277+1666C>G (p.=)
n.423C>G (p.Ser141Arg)
16g.3254645G>TCA394481635MEFVc.423C>A (p.Ser141Arg)
c.277+1666C>A (p.=)
n.277+1666C>A (p.=)
n.423C>A (p.Ser141Arg)
16g.3254646C>ACA280601MEFVc.422G>T (p.Ser141Ile)
c.277+1665G>T (p.=)
n.277+1665G>T (p.=)
n.422G>T (p.Ser141Ile)
ClinVar dbSNP ExAC gnomAD
16g.3254646C>GCA394481640MEFVc.422G>C (p.Ser141Thr)
c.277+1665G>C (p.=)
n.277+1665G>C (p.=)
n.422G>C (p.Ser141Thr)
16g.3254646C>TCA394481642MEFVc.422G>A (p.Ser141Asn)
c.277+1665G>A (p.=)
n.277+1665G>A (p.=)
n.422G>A (p.Ser141Asn)
16g.3254647T>ACA394481645MEFVc.421A>T (p.Ser141Cys)
c.277+1664A>T (p.=)
n.277+1664A>T (p.=)
n.421A>T (p.Ser141Cys)
16g.3254647T>CCA394481649MEFVc.421A>G (p.Ser141Gly)
c.277+1664A>G (p.=)
n.277+1664A>G (p.=)
n.421A>G (p.Ser141Gly)
gnomAD
16g.3254647T>GCA394481650MEFVc.421A>C (p.Ser141Arg)
c.277+1664A>C (p.=)
n.277+1664A>C (p.=)
n.421A>C (p.Ser141Arg)
16g.3254648G>ACA493384371MEFVc.420C>T (p.Ala140=)
c.277+1663C>T (p.=)
n.277+1663C>T (p.=)
n.420C>T (p.Ala140=)
gnomAD
16g.3254648G>CCA493384373MEFVc.420C>G (p.Ala140=)
c.277+1663C>G (p.=)
n.277+1663C>G (p.=)
n.420C>G (p.Ala140=)
16g.3254648G>TCA493384374MEFVc.420C>A (p.Ala140=)
c.277+1663C>A (p.=)
n.277+1663C>A (p.=)
n.420C>A (p.Ala140=)
16g.3254649G>ACA394481652MEFVc.419C>T (p.Ala140Val)
c.277+1662C>T (p.=)
n.277+1662C>T (p.=)
n.419C>T (p.Ala140Val)
16g.3254649G>CCA394481653MEFVc.419C>G (p.Ala140Gly)
c.277+1662C>G (p.=)
n.277+1662C>G (p.=)
n.419C>G (p.Ala140Gly)
16g.3254649G>TCA394481651MEFVc.419C>A (p.Ala140Asp)
c.277+1662C>A (p.=)
n.277+1662C>A (p.=)
n.419C>A (p.Ala140Asp)
16g.3254650C>ACA394481654MEFVc.418G>T (p.Ala140Ser)
c.277+1661G>T (p.=)
n.277+1661G>T (p.=)
n.418G>T (p.Ala140Ser)
16g.3254650C>GCA394481656MEFVc.418G>C (p.Ala140Pro)
c.277+1661G>C (p.=)
n.277+1661G>C (p.=)
n.418G>C (p.Ala140Pro)
16g.3254650C>TCA276902952MEFVc.418G>A (p.Ala140Thr)
c.277+1661G>A (p.=)
n.277+1661G>A (p.=)
n.418G>A (p.Ala140Thr)
dbSNP
16g.3254651A>CCA493384380MEFVc.417T>G (p.Ala139=)
c.277+1660T>G (p.=)
n.277+1660T>G (p.=)
n.417T>G (p.Ala139=)
16g.3254651A>GCA493384378MEFVc.417T>C (p.Ala139=)
c.277+1660T>C (p.=)
n.277+1660T>C (p.=)
n.417T>C (p.Ala139=)
16g.3254651A>TCA493384379MEFVc.417T>A (p.Ala139=)
c.277+1660T>A (p.=)
n.277+1660T>A (p.=)
n.417T>A (p.Ala139=)
16g.3254652G>ACA394481659MEFVc.416C>T (p.Ala139Val)
c.277+1659C>T (p.=)
n.277+1659C>T (p.=)
n.416C>T (p.Ala139Val)
16g.3254652G>CCA394481663MEFVc.416C>G (p.Ala139Gly)
c.277+1659C>G (p.=)
n.277+1659C>G (p.=)
n.416C>G (p.Ala139Gly)
16g.3254652G>TCA7860430MEFVc.416C>A (p.Ala139Asp)
c.277+1659C>A (p.=)
n.277+1659C>A (p.=)
n.416C>A (p.Ala139Asp)
ClinVar dbSNP ExAC gnomAD
16g.3254653C>ACA7860431MEFVc.415G>T (p.Ala139Ser)
c.277+1658G>T (p.=)
n.277+1658G>T (p.=)
n.415G>T (p.Ala139Ser)
dbSNP ExAC gnomAD

Number of alleles fetched