Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3254535C>ACA394480932MEFVc.533G>T (p.Arg178Leu)
c.277+1776G>T (p.=)
n.277+1776G>T (p.=)
n.533G>T (p.Arg178Leu)
16g.3254535C>GCA394480934MEFVc.533G>C (p.Arg178Pro)
c.277+1776G>C (p.=)
n.277+1776G>C (p.=)
n.533G>C (p.Arg178Pro)
16g.3254535C>TCA7860403MEFVc.533G>A (p.Arg178Gln)
c.277+1776G>A (p.=)
n.277+1776G>A (p.=)
n.533G>A (p.Arg178Gln)
dbSNP ExAC gnomAD
16g.3254536G>ACA394480937MEFVc.532C>T (p.Arg178Trp)
c.277+1775C>T (p.=)
n.277+1775C>T (p.=)
n.532C>T (p.Arg178Trp)
ClinVar
16g.3254536G>CCA394480939MEFVc.532C>G (p.Arg178Gly)
c.277+1775C>G (p.=)
n.277+1775C>G (p.=)
n.532C>G (p.Arg178Gly)
16g.3254536G>TCA493384186MEFVc.532C>A (p.Arg178=)
c.277+1775C>A (p.=)
n.277+1775C>A (p.=)
n.532C>A (p.Arg178=)
16g.3254537G>ACA493384193MEFVc.531C>T (p.Thr177=)
c.277+1774C>T (p.=)
n.277+1774C>T (p.=)
n.531C>T (p.Thr177=)
16g.3254537G>CCA493384194MEFVc.531C>G (p.Thr177=)
c.277+1774C>G (p.=)
n.277+1774C>G (p.=)
n.531C>G (p.Thr177=)
16g.3254537G>TCA493384195MEFVc.531C>A (p.Thr177=)
c.277+1774C>A (p.=)
n.277+1774C>A (p.=)
n.531C>A (p.Thr177=)
16g.3254538G>ACA280618MEFVc.530C>T (p.Thr177Ile)
c.277+1773C>T (p.=)
n.277+1773C>T (p.=)
n.530C>T (p.Thr177Ile)
ClinVar dbSNP gnomAD
16g.3254538G>CCA394480942MEFVc.530C>G (p.Thr177Ser)
c.277+1773C>G (p.=)
n.277+1773C>G (p.=)
n.530C>G (p.Thr177Ser)
16g.3254538G>TCA394480944MEFVc.530C>A (p.Thr177Asn)
c.277+1773C>A (p.=)
n.277+1773C>A (p.=)
n.530C>A (p.Thr177Asn)
16g.3254539T>ACA394480951MEFVc.529A>T (p.Thr177Ser)
c.277+1772A>T (p.=)
n.277+1772A>T (p.=)
n.529A>T (p.Thr177Ser)
16g.3254539T>CCA394480949MEFVc.529A>G (p.Thr177Ala)
c.277+1772A>G (p.=)
n.277+1772A>G (p.=)
n.529A>G (p.Thr177Ala)
16g.3254539T>GCA394480947MEFVc.529A>C (p.Thr177Pro)
c.277+1772A>C (p.=)
n.277+1772A>C (p.=)
n.529A>C (p.Thr177Pro)
16g.3254539dupCA620713359MEFVc.529dup (p.Thr177AsnfsTer?)
c.277+1772dup (p.=)
n.277+1772dup (p.=)
n.529dup (p.Thr177AsnfsTer?)
dbSNP gnomAD
16g.3254540C>ACA493384199MEFVc.528G>T (p.Arg176=)
c.277+1771G>T (p.=)
n.277+1771G>T (p.=)
n.528G>T (p.Arg176=)
16g.3254540C>GCA493384201MEFVc.528G>C (p.Arg176=)
c.277+1771G>C (p.=)
n.277+1771G>C (p.=)
n.528G>C (p.Arg176=)
16g.3254540C>TCA493384203MEFVc.528G>A (p.Arg176=)
c.277+1771G>A (p.=)
n.277+1771G>A (p.=)
n.528G>A (p.Arg176=)
gnomAD
16g.3254540delCA620713360MEFVc.527del (p.Thr177ProfsTer18)
c.277+1770del (p.=)
n.277+1770del (p.=)
n.527del (p.Thr177ProfsTer18)
dbSNP gnomAD
16g.3254541C>ACA394480956MEFVc.527G>T (p.Arg176Leu)
c.277+1770G>T (p.=)
n.277+1770G>T (p.=)
n.527G>T (p.Arg176Leu)
16g.3254541C>GCA394480953MEFVc.527G>C (p.Arg176Pro)
c.277+1770G>C (p.=)
n.277+1770G>C (p.=)
n.527G>C (p.Arg176Pro)
16g.3254541C>TCA394480958MEFVc.527G>A (p.Arg176Gln)
c.277+1770G>A (p.=)
n.277+1770G>A (p.=)
n.527G>A (p.Arg176Gln)
gnomAD
16g.3254542G>ACA394480960MEFVc.526C>T (p.Arg176Trp)
c.277+1769C>T (p.=)
n.277+1769C>T (p.=)
n.526C>T (p.Arg176Trp)
COSMIC
16g.3254542G>CCA394480961MEFVc.526C>G (p.Arg176Gly)
c.277+1769C>G (p.=)
n.277+1769C>G (p.=)
n.526C>G (p.Arg176Gly)
16g.3254542G>TCA493384207MEFVc.526C>A (p.Arg176=)
c.277+1769C>A (p.=)
n.277+1769C>A (p.=)
n.526C>A (p.Arg176=)
16g.3254543A>CCA493384209MEFVc.525T>G (p.Pro175=)
c.277+1768T>G (p.=)
n.277+1768T>G (p.=)
n.525T>G (p.Pro175=)
16g.3254543A>GCA493384212MEFVc.525T>C (p.Pro175=)
c.277+1768T>C (p.=)
n.277+1768T>C (p.=)
n.525T>C (p.Pro175=)
16g.3254543A>TCA493384213MEFVc.525T>A (p.Pro175=)
c.277+1768T>A (p.=)
n.277+1768T>A (p.=)
n.525T>A (p.Pro175=)
16g.3254544G>ACA394480963MEFVc.524C>T (p.Pro175Leu)
c.277+1767C>T (p.=)
n.277+1767C>T (p.=)
n.524C>T (p.Pro175Leu)
16g.3254544G>CCA394480965MEFVc.524C>G (p.Pro175Arg)
c.277+1767C>G (p.=)
n.277+1767C>G (p.=)
n.524C>G (p.Pro175Arg)
16g.3254544G>TCA280615MEFVc.524C>A (p.Pro175His)
c.277+1767C>A (p.=)
n.277+1767C>A (p.=)
n.524C>A (p.Pro175His)
ClinVar dbSNP ExAC gnomAD
16g.3254545G>ACA276902735MEFVc.523C>T (p.Pro175Ser)
c.277+1766C>T (p.=)
n.277+1766C>T (p.=)
n.523C>T (p.Pro175Ser)
dbSNP gnomAD
16g.3254545G>CCA394480974MEFVc.523C>G (p.Pro175Ala)
c.277+1766C>G (p.=)
n.277+1766C>G (p.=)
n.523C>G (p.Pro175Ala)
16g.3254545G>TCA394480975MEFVc.523C>A (p.Pro175Thr)
c.277+1766C>A (p.=)
n.277+1766C>A (p.=)
n.523C>A (p.Pro175Thr)
gnomAD
16g.3254546C>ACA394480981MEFVc.522G>T (p.Lys174Asn)
c.277+1765G>T (p.=)
n.277+1765G>T (p.=)
n.522G>T (p.Lys174Asn)
16g.3254546C>GCA394480979MEFVc.522G>C (p.Lys174Asn)
c.277+1765G>C (p.=)
n.277+1765G>C (p.=)
n.522G>C (p.Lys174Asn)
16g.3254546C>TCA493384219MEFVc.522G>A (p.Lys174=)
c.277+1765G>A (p.=)
n.277+1765G>A (p.=)
n.522G>A (p.Lys174=)
16g.3254547T>ACA394480982MEFVc.521A>T (p.Lys174Met)
c.277+1764A>T (p.=)
n.277+1764A>T (p.=)
n.521A>T (p.Lys174Met)
16g.3254547T>CCA394480983MEFVc.521A>G (p.Lys174Arg)
c.277+1764A>G (p.=)
n.277+1764A>G (p.=)
n.521A>G (p.Lys174Arg)
16g.3254547T>GCA394480985MEFVc.521A>C (p.Lys174Thr)
c.277+1764A>C (p.=)
n.277+1764A>C (p.=)
n.521A>C (p.Lys174Thr)
16g.3254548T>ACA394480988MEFVc.520A>T (p.Lys174Ter)
c.277+1763A>T (p.=)
n.277+1763A>T (p.=)
n.520A>T (p.Lys174Ter)
16g.3254548T>CCA394480989MEFVc.520A>G (p.Lys174Glu)
c.277+1763A>G (p.=)
n.277+1763A>G (p.=)
n.520A>G (p.Lys174Glu)
gnomAD
16g.3254548T>GCA7860404MEFVc.520A>C (p.Lys174Gln)
c.277+1763A>C (p.=)
n.277+1763A>C (p.=)
n.520A>C (p.Lys174Gln)
dbSNP ExAC gnomAD
16g.3254549G>ACA493384226MEFVc.519C>T (p.Gly173=)
c.277+1762C>T (p.=)
n.277+1762C>T (p.=)
n.519C>T (p.Gly173=)
16g.3254549G>CCA493384224MEFVc.519C>G (p.Gly173=)
c.277+1762C>G (p.=)
n.277+1762C>G (p.=)
n.519C>G (p.Gly173=)
16g.3254549G>TCA493384225MEFVc.519C>A (p.Gly173=)
c.277+1762C>A (p.=)
n.277+1762C>A (p.=)
n.519C>A (p.Gly173=)
16g.3254550C>ACA394480996MEFVc.518G>T (p.Gly173Val)
c.277+1761G>T (p.=)
n.277+1761G>T (p.=)
n.518G>T (p.Gly173Val)
16g.3254550C>GCA394480992MEFVc.518G>C (p.Gly173Ala)
c.277+1761G>C (p.=)
n.277+1761G>C (p.=)
n.518G>C (p.Gly173Ala)
16g.3254550C>TCA394480994MEFVc.518G>A (p.Gly173Asp)
c.277+1761G>A (p.=)
n.277+1761G>A (p.=)
n.518G>A (p.Gly173Asp)
gnomAD

Number of alleles fetched