Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3254439G>ACA394478934MEFVc.629C>T (p.Ala210Val)
c.277+1872C>T (p.=)
n.277+1872C>T (p.=)
n.629C>T (p.Ala210Val)
COSMIC
16g.3254439G>CCA394478921MEFVc.629C>G (p.Ala210Gly)
c.277+1872C>G (p.=)
n.277+1872C>G (p.=)
n.629C>G (p.Ala210Gly)
gnomAD
16g.3254439G>TCA394478918MEFVc.629C>A (p.Ala210Glu)
c.277+1872C>A (p.=)
n.277+1872C>A (p.=)
n.629C>A (p.Ala210Glu)
16g.3254440C>ACA394478939MEFVc.628G>T (p.Ala210Ser)
c.277+1871G>T (p.=)
n.277+1871G>T (p.=)
n.628G>T (p.Ala210Ser)
16g.3254440C>GCA394478943MEFVc.628G>C (p.Ala210Pro)
c.277+1871G>C (p.=)
n.277+1871G>C (p.=)
n.628G>C (p.Ala210Pro)
16g.3254440C>TCA7860374MEFVc.628G>A (p.Ala210Thr)
c.277+1871G>A (p.=)
n.277+1871G>A (p.=)
n.628G>A (p.Ala210Thr)
dbSNP ExAC gnomAD
16g.3254441G>ACA493384417MEFVc.627C>T (p.Ser209=)
c.277+1870C>T (p.=)
n.277+1870C>T (p.=)
n.627C>T (p.Ser209=)
16g.3254441G>CCA493384416MEFVc.627C>G (p.Ser209=)
c.277+1870C>G (p.=)
n.277+1870C>G (p.=)
n.627C>G (p.Ser209=)
16g.3254441G>TCA493384415MEFVc.627C>A (p.Ser209=)
c.277+1870C>A (p.=)
n.277+1870C>A (p.=)
n.627C>A (p.Ser209=)
16g.3254442G>ACA394478952MEFVc.626C>T (p.Ser209Phe)
c.277+1869C>T (p.=)
n.277+1869C>T (p.=)
n.626C>T (p.Ser209Phe)
16g.3254442G>CCA394478954MEFVc.626C>G (p.Ser209Cys)
c.277+1869C>G (p.=)
n.277+1869C>G (p.=)
n.626C>G (p.Ser209Cys)
16g.3254442G>TCA394478957MEFVc.626C>A (p.Ser209Tyr)
c.277+1869C>A (p.=)
n.277+1869C>A (p.=)
n.626C>A (p.Ser209Tyr)
16g.3254443A>CCA394478960MEFVc.625T>G (p.Ser209Ala)
c.277+1868T>G (p.=)
n.277+1868T>G (p.=)
n.625T>G (p.Ser209Ala)
16g.3254443A>GCA394478964MEFVc.625T>C (p.Ser209Pro)
c.277+1868T>C (p.=)
n.277+1868T>C (p.=)
n.625T>C (p.Ser209Pro)
gnomAD
16g.3254443A>TCA394478966MEFVc.625T>A (p.Ser209Thr)
c.277+1868T>A (p.=)
n.277+1868T>A (p.=)
n.625T>A (p.Ser209Thr)
16g.3254444G>ACA493384419MEFVc.624C>T (p.Ser208=)
c.277+1867C>T (p.=)
n.277+1867C>T (p.=)
n.624C>T (p.Ser208=)
16g.3254444G>CCA394478970MEFVc.624C>G (p.Ser208Arg)
c.277+1867C>G (p.=)
n.277+1867C>G (p.=)
n.624C>G (p.Ser208Arg)
16g.3254444G>TCA394478971MEFVc.624C>A (p.Ser208Arg)
c.277+1867C>A (p.=)
n.277+1867C>A (p.=)
n.624C>A (p.Ser208Arg)
gnomAD
16g.3254445C>ACA394478978MEFVc.623G>T (p.Ser208Ile)
c.277+1866G>T (p.=)
n.277+1866G>T (p.=)
n.623G>T (p.Ser208Ile)
16g.3254445C>GCA7860375MEFVc.623G>C (p.Ser208Thr)
c.277+1866G>C (p.=)
n.277+1866G>C (p.=)
n.623G>C (p.Ser208Thr)
ClinVar dbSNP ExAC gnomAD
16g.3254445C>TCA394478975MEFVc.623G>A (p.Ser208Asn)
c.277+1866G>A (p.=)
n.277+1866G>A (p.=)
n.623G>A (p.Ser208Asn)
16g.3254446T>ACA394478985MEFVc.622A>T (p.Ser208Cys)
c.277+1865A>T (p.=)
n.277+1865A>T (p.=)
n.622A>T (p.Ser208Cys)
16g.3254446T>CCA394478991MEFVc.622A>G (p.Ser208Gly)
c.277+1865A>G (p.=)
n.277+1865A>G (p.=)
n.622A>G (p.Ser208Gly)
16g.3254446T>GCA394479008MEFVc.622A>C (p.Ser208Arg)
c.277+1865A>C (p.=)
n.277+1865A>C (p.=)
n.622A>C (p.Ser208Arg)
16g.3254447G>ACA7860376MEFVc.621C>T (p.Ala207=)
c.277+1864C>T (p.=)
n.277+1864C>T (p.=)
n.621C>T (p.Ala207=)
ClinVar dbSNP ExAC gnomAD
16g.3254447G>CCA493384421MEFVc.621C>G (p.Ala207=)
c.277+1864C>G (p.=)
n.277+1864C>G (p.=)
n.621C>G (p.Ala207=)
16g.3254447G>TCA493384422MEFVc.621C>A (p.Ala207=)
c.277+1864C>A (p.=)
n.277+1864C>A (p.=)
n.621C>A (p.Ala207=)
16g.3254447_3254462dupCA280629MEFVc.606_621dup (p.Ser208AlafsTer?)
c.277+1849_277+1864dup (p.=)
n.277+1849_277+1864dup (p.=)
n.606_621dup (p.Ser208AlafsTer?)
ClinVar dbSNP
16g.3254448G>ACA394479024MEFVc.620C>T (p.Ala207Val)
c.277+1863C>T (p.=)
n.277+1863C>T (p.=)
n.620C>T (p.Ala207Val)
16g.3254448G>CCA394479028MEFVc.620C>G (p.Ala207Gly)
c.277+1863C>G (p.=)
n.277+1863C>G (p.=)
n.620C>G (p.Ala207Gly)
16g.3254448G>TCA394479032MEFVc.620C>A (p.Ala207Asp)
c.277+1863C>A (p.=)
n.277+1863C>A (p.=)
n.620C>A (p.Ala207Asp)
16g.3254449C>ACA394479033MEFVc.619G>T (p.Ala207Ser)
c.277+1862G>T (p.=)
n.277+1862G>T (p.=)
n.619G>T (p.Ala207Ser)
16g.3254449C>GCA394479034MEFVc.619G>C (p.Ala207Pro)
c.277+1862G>C (p.=)
n.277+1862G>C (p.=)
n.619G>C (p.Ala207Pro)
gnomAD
16g.3254449C>TCA394479037MEFVc.619G>A (p.Ala207Thr)
c.277+1862G>A (p.=)
n.277+1862G>A (p.=)
n.619G>A (p.Ala207Thr)
16g.3254450G>ACA493384426MEFVc.618C>T (p.Asn206=)
c.277+1861C>T (p.=)
n.277+1861C>T (p.=)
n.618C>T (p.Asn206=)
COSMIC
16g.3254450G>CCA394479056MEFVc.618C>G (p.Asn206Lys)
c.277+1861C>G (p.=)
n.277+1861C>G (p.=)
n.618C>G (p.Asn206Lys)
16g.3254450G>TCA394479054MEFVc.618C>A (p.Asn206Lys)
c.277+1861C>A (p.=)
n.277+1861C>A (p.=)
n.618C>A (p.Asn206Lys)
16g.3254451T>ACA394479061MEFVc.617A>T (p.Asn206Ile)
c.277+1860A>T (p.=)
n.277+1860A>T (p.=)
n.617A>T (p.Asn206Ile)
16g.3254451T>CCA394479067MEFVc.617A>G (p.Asn206Ser)
c.277+1860A>G (p.=)
n.277+1860A>G (p.=)
n.617A>G (p.Asn206Ser)
16g.3254451T>GCA394479078MEFVc.617A>C (p.Asn206Thr)
c.277+1860A>C (p.=)
n.277+1860A>C (p.=)
n.617A>C (p.Asn206Thr)
16g.3254452T>ACA394479083MEFVc.616A>T (p.Asn206Tyr)
c.277+1859A>T (p.=)
n.277+1859A>T (p.=)
n.616A>T (p.Asn206Tyr)
16g.3254452T>CCA394479084MEFVc.616A>G (p.Asn206Asp)
c.277+1859A>G (p.=)
n.277+1859A>G (p.=)
n.616A>G (p.Asn206Asp)
16g.3254452T>GCA394479085MEFVc.616A>C (p.Asn206His)
c.277+1859A>C (p.=)
n.277+1859A>C (p.=)
n.616A>C (p.Asn206His)
16g.3254453T>ACA394479086MEFVc.615A>T (p.Arg205Ser)
c.277+1858A>T (p.=)
n.277+1858A>T (p.=)
n.615A>T (p.Arg205Ser)
16g.3254453T>CCA493384429MEFVc.615A>G (p.Arg205=)
c.277+1858A>G (p.=)
n.277+1858A>G (p.=)
n.615A>G (p.Arg205=)
16g.3254453T>GCA394479088MEFVc.615A>C (p.Arg205Ser)
c.277+1858A>C (p.=)
n.277+1858A>C (p.=)
n.615A>C (p.Arg205Ser)
16g.3254454C>ACA394479102MEFVc.614G>T (p.Arg205Ile)
c.277+1857G>T (p.=)
n.277+1857G>T (p.=)
n.614G>T (p.Arg205Ile)
16g.3254454C>GCA394479105MEFVc.614G>C (p.Arg205Thr)
c.277+1857G>C (p.=)
n.277+1857G>C (p.=)
n.614G>C (p.Arg205Thr)
16g.3254454C>TCA394479110MEFVc.614G>A (p.Arg205Lys)
c.277+1857G>A (p.=)
n.277+1857G>A (p.=)
n.614G>A (p.Arg205Lys)
COSMIC
16g.3254455T>ACA394479114MEFVc.613A>T (p.Arg205Ter)
c.277+1856A>T (p.=)
n.277+1856A>T (p.=)
n.613A>T (p.Arg205Ter)

Number of alleles fetched