Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3254499_3254523delCA7860395MEFVc.537_561del (p.Leu182ProfsTer5)
c.277+1780_277+1804del (p.=)
n.726_750del
n.277+1780_277+1804del (p.=)
n.537_561del (p.Leu182ProfsTer5)
dbSNP ExAC gnomAD
16g.3254526G>ACA394480892MEFVc.542C>T (p.Ala181Val)
c.277+1785C>T (p.=)
n.731C>T
n.277+1785C>T (p.=)
n.542C>T (p.Ala181Val)
16g.3254526G>CCA394480893MEFVc.542C>G (p.Ala181Gly)
c.277+1785C>G (p.=)
n.731C>G
n.277+1785C>G (p.=)
n.542C>G (p.Ala181Gly)
16g.3254526G>TCA394480895MEFVc.542C>A (p.Ala181Asp)
c.277+1785C>A (p.=)
n.731C>A
n.277+1785C>A (p.=)
n.542C>A (p.Ala181Asp)
gnomAD
16g.3254527C>ACA394480898MEFVc.541G>T (p.Ala181Ser)
c.277+1784G>T (p.=)
n.730G>T
n.277+1784G>T (p.=)
n.541G>T (p.Ala181Ser)
16g.3254527C>GCA394480899MEFVc.541G>C (p.Ala181Pro)
c.277+1784G>C (p.=)
n.730G>C
n.277+1784G>C (p.=)
n.541G>C (p.Ala181Pro)
16g.3254527C>TCA394480901MEFVc.541G>A (p.Ala181Thr)
c.277+1784G>A (p.=)
n.730G>A
n.277+1784G>A (p.=)
n.541G>A (p.Ala181Thr)
16g.3254528C>ACA493384170MEFVc.540G>T (p.Pro180=)
c.277+1783G>T (p.=)
n.729G>T
n.277+1783G>T (p.=)
n.540G>T (p.Pro180=)
16g.3254528C>GCA280626MEFVc.540G>C (p.Pro180=)
c.277+1783G>C (p.=)
n.729G>C
n.277+1783G>C (p.=)
n.540G>C (p.Pro180=)
ClinVar dbSNP ExAC gnomAD
16g.3254528C>TCA493384169MEFVc.540G>A (p.Pro180=)
c.277+1783G>A (p.=)
n.729G>A
n.277+1783G>A (p.=)
n.540G>A (p.Pro180=)
16g.3254529G>ACA276902697MEFVc.539C>T (p.Pro180Leu)
c.277+1782C>T (p.=)
n.728C>T
n.277+1782C>T (p.=)
n.539C>T (p.Pro180Leu)
ClinVar dbSNP gnomAD
16g.3254529G>CCA280623MEFVc.539C>G (p.Pro180Arg)
c.277+1782C>G (p.=)
n.728C>G
n.277+1782C>G (p.=)
n.539C>G (p.Pro180Arg)
ClinVar dbSNP ExAC gnomAD
16g.3254529G>TCA10588616MEFVc.539C>A (p.Pro180Gln)
c.277+1782C>A (p.=)
n.728C>A
n.277+1782C>A (p.=)
n.539C>A (p.Pro180Gln)
dbSNP gnomAD
16g.3254530G>ACA394480909MEFVc.538C>T (p.Pro180Ser)
c.277+1781C>T (p.=)
n.727C>T
n.277+1781C>T (p.=)
n.538C>T (p.Pro180Ser)
16g.3254530G>CCA394480912MEFVc.538C>G (p.Pro180Ala)
c.277+1781C>G (p.=)
n.727C>G
n.277+1781C>G (p.=)
n.538C>G (p.Pro180Ala)
16g.3254530G>TCA394480914MEFVc.538C>A (p.Pro180Thr)
c.277+1781C>A (p.=)
n.727C>A
n.277+1781C>A (p.=)
n.538C>A (p.Pro180Thr)
16g.3254531G>ACA493384175MEFVc.537C>T (p.Ser179=)
c.277+1780C>T (p.=)
n.726C>T
n.277+1780C>T (p.=)
n.537C>T (p.Ser179=)
16g.3254531G>CCA394480918MEFVc.537C>G (p.Ser179Arg)
c.277+1780C>G (p.=)
n.726C>G
n.277+1780C>G (p.=)
n.537C>G (p.Ser179Arg)
16g.3254531G>TCA394480916MEFVc.537C>A (p.Ser179Arg)
c.277+1780C>A (p.=)
n.726C>A
n.277+1780C>A (p.=)
n.537C>A (p.Ser179Arg)
16g.3254532C>ACA280620MEFVc.536G>T (p.Ser179Ile)
c.277+1779G>T (p.=)
n.725G>T
n.277+1779G>T (p.=)
n.536G>T (p.Ser179Ile)
ClinVar dbSNP
16g.3254532C>GCA394480923MEFVc.536G>C (p.Ser179Thr)
c.277+1779G>C (p.=)
n.725G>C
n.277+1779G>C (p.=)
n.536G>C (p.Ser179Thr)
16g.3254532C>TCA7860402MEFVc.536G>A (p.Ser179Asn)
c.277+1779G>A (p.=)
n.725G>A
n.277+1779G>A (p.=)
n.536G>A (p.Ser179Asn)
ClinVar dbSNP ExAC gnomAD
16g.3254533T>ACA394480927MEFVc.535A>T (p.Ser179Cys)
c.277+1778A>T (p.=)
n.724A>T
n.277+1778A>T (p.=)
n.535A>T (p.Ser179Cys)
16g.3254533T>CCA394480928MEFVc.535A>G (p.Ser179Gly)
c.277+1778A>G (p.=)
n.724A>G
n.277+1778A>G (p.=)
n.535A>G (p.Ser179Gly)
16g.3254533T>GCA394480929MEFVc.535A>C (p.Ser179Arg)
c.277+1778A>C (p.=)
n.724A>C
n.277+1778A>C (p.=)
n.535A>C (p.Ser179Arg)
16g.3254534C>ACA493384182MEFVc.534G>T (p.Arg178=)
c.277+1777G>T (p.=)
n.723G>T
n.277+1777G>T (p.=)
n.534G>T (p.Arg178=)
16g.3254534C>GCA493384183MEFVc.534G>C (p.Arg178=)
c.277+1777G>C (p.=)
n.723G>C
n.277+1777G>C (p.=)
n.534G>C (p.Arg178=)
16g.3254534C>TCA493384185MEFVc.534G>A (p.Arg178=)
c.277+1777G>A (p.=)
n.723G>A
n.277+1777G>A (p.=)
n.534G>A (p.Arg178=)
16g.3254535C>ACA394480932MEFVc.533G>T (p.Arg178Leu)
c.277+1776G>T (p.=)
n.722G>T
n.277+1776G>T (p.=)
n.533G>T (p.Arg178Leu)
16g.3254535C>GCA394480934MEFVc.533G>C (p.Arg178Pro)
c.277+1776G>C (p.=)
n.722G>C
n.277+1776G>C (p.=)
n.533G>C (p.Arg178Pro)
16g.3254535C>TCA7860403MEFVc.533G>A (p.Arg178Gln)
c.277+1776G>A (p.=)
n.722G>A
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.721C>T
n.277+1775C>T (p.=)
n.532C>T (p.Arg178Trp)
ClinVar
16g.3254536G>CCA394480939MEFVc.532C>G (p.Arg178Gly)
c.277+1775C>G (p.=)
n.721C>G
n.277+1775C>G (p.=)
n.532C>G (p.Arg178Gly)
16g.3254536G>TCA493384186MEFVc.532C>A (p.Arg178=)
c.277+1775C>A (p.=)
n.721C>A
n.277+1775C>A (p.=)
n.532C>A (p.Arg178=)
16g.3254537G>ACA493384193MEFVc.531C>T (p.Thr177=)
c.277+1774C>T (p.=)
n.720C>T
n.277+1774C>T (p.=)
n.531C>T (p.Thr177=)
16g.3254537G>CCA493384194MEFVc.531C>G (p.Thr177=)
c.277+1774C>G (p.=)
n.720C>G
n.277+1774C>G (p.=)
n.531C>G (p.Thr177=)
16g.3254537G>TCA493384195MEFVc.531C>A (p.Thr177=)
c.277+1774C>A (p.=)
n.720C>A
n.277+1774C>A (p.=)
n.531C>A (p.Thr177=)
16g.3254538G>ACA280618MEFVc.530C>T (p.Thr177Ile)
c.277+1773C>T (p.=)
n.719C>T
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.719C>G
n.277+1773C>G (p.=)
n.530C>G (p.Thr177Ser)
16g.3254538G>TCA394480944MEFVc.530C>A (p.Thr177Asn)
c.277+1773C>A (p.=)
n.719C>A
n.277+1773C>A (p.=)
n.530C>A (p.Thr177Asn)
16g.3254539T>ACA394480951MEFVc.529A>T (p.Thr177Ser)
c.277+1772A>T (p.=)
n.718A>T
n.277+1772A>T (p.=)
n.529A>T (p.Thr177Ser)
16g.3254539T>CCA394480949MEFVc.529A>G (p.Thr177Ala)
c.277+1772A>G (p.=)
n.718A>G
n.277+1772A>G (p.=)
n.529A>G (p.Thr177Ala)
16g.3254539T>GCA394480947MEFVc.529A>C (p.Thr177Pro)
c.277+1772A>C (p.=)
n.718A>C
n.277+1772A>C (p.=)
n.529A>C (p.Thr177Pro)
16g.3254539dupCA620713359MEFVc.529dup (p.Thr177AsnfsTer?)
c.277+1772dup (p.=)
n.718dup
n.277+1772dup (p.=)
n.529dup (p.Thr177AsnfsTer?)
dbSNP gnomAD
16g.3254540C>ACA493384199MEFVc.528G>T (p.Arg176=)
c.277+1771G>T (p.=)
n.717G>T
n.277+1771G>T (p.=)
n.528G>T (p.Arg176=)
16g.3254540C>GCA493384201MEFVc.528G>C (p.Arg176=)
c.277+1771G>C (p.=)
n.717G>C
n.277+1771G>C (p.=)
n.528G>C (p.Arg176=)
16g.3254540C>TCA493384203MEFVc.528G>A (p.Arg176=)
c.277+1771G>A (p.=)
n.717G>A
n.277+1771G>A (p.=)
n.528G>A (p.Arg176=)
gnomAD
16g.3254540delCA620713360MEFVc.527del (p.Thr177ProfsTer18)
c.277+1770del (p.=)
n.716del
n.277+1770del (p.=)
n.527del (p.Thr177ProfsTer18)
dbSNP gnomAD
16g.3254541C>ACA394480956MEFVc.527G>T (p.Arg176Leu)
c.277+1770G>T (p.=)
n.716G>T
n.277+1770G>T (p.=)
n.527G>T (p.Arg176Leu)
16g.3254541C>GCA394480953MEFVc.527G>C (p.Arg176Pro)
c.277+1770G>C (p.=)
n.716G>C
n.277+1770G>C (p.=)
n.527G>C (p.Arg176Pro)

Number of alleles fetched