Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3254626C>ACA394481484MEFVc.442G>T (p.Glu148Ter)
c.277+1685G>T (p.=)
n.631G>T
n.277+1685G>T (p.=)
n.442G>T (p.Glu148Ter)
16g.3254626C>GCA280097MEFVc.442G>C (p.Glu148Gln)
c.277+1685G>C (p.=)
n.631G>C
n.277+1685G>C (p.=)
n.442G>C (p.Glu148Gln)
ClinVar dbSNP ExAC gnomAD
16g.3254626C>TCA394481486MEFVc.442G>A (p.Glu148Lys)
c.277+1685G>A (p.=)
n.631G>A
n.277+1685G>A (p.=)
n.442G>A (p.Glu148Lys)
gnomAD
16g.3254627_3254642dupCA10577523MEFVc.427_442dup (p.Glu148AlafsTer?)
c.277+1670_277+1685dup (p.=)
n.616_631dup
n.277+1670_277+1685dup (p.=)
n.427_442dup (p.Glu148AlafsTer?)
ClinVar dbSNP gnomAD
16g.3254627G>ACA493384327MEFVc.441C>T (p.Pro147=)
c.277+1684C>T (p.=)
n.630C>T
n.277+1684C>T (p.=)
n.441C>T (p.Pro147=)
COSMIC
16g.3254627G>CCA493384328MEFVc.441C>G (p.Pro147=)
c.277+1684C>G (p.=)
n.630C>G
n.277+1684C>G (p.=)
n.441C>G (p.Pro147=)
16g.3254627G>TCA493384329MEFVc.441C>A (p.Pro147=)
c.277+1684C>A (p.=)
n.630C>A
n.277+1684C>A (p.=)
n.441C>A (p.Pro147=)
16g.3254628G>ACA394481489MEFVc.440C>T (p.Pro147Leu)
c.277+1683C>T (p.=)
n.629C>T
n.277+1683C>T (p.=)
n.440C>T (p.Pro147Leu)
16g.3254628G>CCA394481492MEFVc.440C>G (p.Pro147Arg)
c.277+1683C>G (p.=)
n.629C>G
n.277+1683C>G (p.=)
n.440C>G (p.Pro147Arg)
16g.3254628G>TCA394481494MEFVc.440C>A (p.Pro147His)
c.277+1683C>A (p.=)
n.629C>A
n.277+1683C>A (p.=)
n.440C>A (p.Pro147His)
16g.3254629G>ACA394481505MEFVc.439C>T (p.Pro147Ser)
c.277+1682C>T (p.=)
n.628C>T
n.277+1682C>T (p.=)
n.439C>T (p.Pro147Ser)
gnomAD
16g.3254629G>CCA10577524MEFVc.439C>G (p.Pro147Ala)
c.277+1682C>G (p.=)
n.628C>G
n.277+1682C>G (p.=)
n.439C>G (p.Pro147Ala)
ClinVar dbSNP gnomAD
16g.3254629G>TCA394481497MEFVc.439C>A (p.Pro147Thr)
c.277+1682C>A (p.=)
n.628C>A
n.277+1682C>A (p.=)
n.439C>A (p.Pro147Thr)
16g.3254630C>ACA394481508MEFVc.438G>T (p.Gln146His)
c.277+1681G>T (p.=)
n.627G>T
n.277+1681G>T (p.=)
n.438G>T (p.Gln146His)
16g.3254630C>GCA394481509MEFVc.438G>C (p.Gln146His)
c.277+1681G>C (p.=)
n.627G>C
n.277+1681G>C (p.=)
n.438G>C (p.Gln146His)
16g.3254630C>TCA7860426MEFVc.438G>A (p.Gln146=)
c.277+1681G>A (p.=)
n.627G>A
n.277+1681G>A (p.=)
n.438G>A (p.Gln146=)
dbSNP ExAC gnomAD
16g.3254631T>ACA394481511MEFVc.437A>T (p.Gln146Leu)
c.277+1680A>T (p.=)
n.626A>T
n.277+1680A>T (p.=)
n.437A>T (p.Gln146Leu)
16g.3254631T>CCA394481514MEFVc.437A>G (p.Gln146Arg)
c.277+1680A>G (p.=)
n.626A>G
n.277+1680A>G (p.=)
n.437A>G (p.Gln146Arg)
16g.3254631T>GCA394481516MEFVc.437A>C (p.Gln146Pro)
c.277+1680A>C (p.=)
n.626A>C
n.277+1680A>C (p.=)
n.437A>C (p.Gln146Pro)
16g.3254632G>ACA10577525MEFVc.436C>T (p.Gln146Ter)
c.277+1679C>T (p.=)
n.625C>T
n.277+1679C>T (p.=)
n.436C>T (p.Gln146Ter)
ClinVar dbSNP
16g.3254632G>CCA394481521MEFVc.436C>G (p.Gln146Glu)
c.277+1679C>G (p.=)
n.625C>G
n.277+1679C>G (p.=)
n.436C>G (p.Gln146Glu)
16g.3254632G>TCA394481523MEFVc.436C>A (p.Gln146Lys)
c.277+1679C>A (p.=)
n.625C>A
n.277+1679C>A (p.=)
n.436C>A (p.Gln146Lys)
16g.3254633G>ACA493384335MEFVc.435C>T (p.Ser145=)
c.277+1678C>T (p.=)
n.624C>T
n.277+1678C>T (p.=)
n.435C>T (p.Ser145=)
16g.3254633G>CCA394481532MEFVc.435C>G (p.Ser145Arg)
c.277+1678C>G (p.=)
n.624C>G
n.277+1678C>G (p.=)
n.435C>G (p.Ser145Arg)
16g.3254633G>TCA394481538MEFVc.435C>A (p.Ser145Arg)
c.277+1678C>A (p.=)
n.624C>A
n.277+1678C>A (p.=)
n.435C>A (p.Ser145Arg)
gnomAD
16g.3254634C>ACA394481542MEFVc.434G>T (p.Ser145Ile)
c.277+1677G>T (p.=)
n.623G>T
n.277+1677G>T (p.=)
n.434G>T (p.Ser145Ile)
16g.3254634C>GCA394481545MEFVc.434G>C (p.Ser145Thr)
c.277+1677G>C (p.=)
n.623G>C
n.277+1677G>C (p.=)
n.434G>C (p.Ser145Thr)
gnomAD
16g.3254634C>TCA394481546MEFVc.434G>A (p.Ser145Asn)
c.277+1677G>A (p.=)
n.623G>A
n.277+1677G>A (p.=)
n.434G>A (p.Ser145Asn)
gnomAD
16g.3254635T>ACA394481553MEFVc.433A>T (p.Ser145Cys)
c.277+1676A>T (p.=)
n.622A>T
n.277+1676A>T (p.=)
n.433A>T (p.Ser145Cys)
16g.3254635T>CCA394481558MEFVc.433A>G (p.Ser145Gly)
c.277+1676A>G (p.=)
n.622A>G
n.277+1676A>G (p.=)
n.433A>G (p.Ser145Gly)
16g.3254635T>GCA394481550MEFVc.433A>C (p.Ser145Arg)
c.277+1676A>C (p.=)
n.622A>C
n.277+1676A>C (p.=)
n.433A>C (p.Ser145Arg)
16g.3254636G>ACA493384340MEFVc.432C>T (p.Cys144=)
c.277+1675C>T (p.=)
n.621C>T
n.277+1675C>T (p.=)
n.432C>T (p.Cys144=)
gnomAD
16g.3254636G>CCA394481561MEFVc.432C>G (p.Cys144Trp)
c.277+1675C>G (p.=)
n.621C>G
n.277+1675C>G (p.=)
n.432C>G (p.Cys144Trp)
gnomAD
16g.3254636G>TCA394481564MEFVc.432C>A (p.Cys144Ter)
c.277+1675C>A (p.=)
n.621C>A
n.277+1675C>A (p.=)
n.432C>A (p.Cys144Ter)
16g.3254637C>ACA394481579MEFVc.431G>T (p.Cys144Phe)
c.277+1674G>T (p.=)
n.620G>T
n.277+1674G>T (p.=)
n.431G>T (p.Cys144Phe)
16g.3254637C>GCA394481580MEFVc.431G>C (p.Cys144Ser)
c.277+1674G>C (p.=)
n.620G>C
n.277+1674G>C (p.=)
n.431G>C (p.Cys144Ser)
16g.3254637C>TCA7860427MEFVc.431G>A (p.Cys144Tyr)
c.277+1674G>A (p.=)
n.620G>A
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.619T>G
n.277+1673T>G (p.=)
n.430T>G (p.Cys144Gly)
16g.3254638A>GCA394481591MEFVc.430T>C (p.Cys144Arg)
c.277+1673T>C (p.=)
n.619T>C
n.277+1673T>C (p.=)
n.430T>C (p.Cys144Arg)
16g.3254638A>TCA394481599MEFVc.430T>A (p.Cys144Ser)
c.277+1673T>A (p.=)
n.619T>A
n.277+1673T>A (p.=)
n.430T>A (p.Cys144Ser)
16g.3254639C>ACA493384345MEFVc.429G>T (p.Arg143=)
c.277+1672G>T (p.=)
n.618G>T
n.277+1672G>T (p.=)
n.429G>T (p.Arg143=)
16g.3254639C>GCA493384347MEFVc.429G>C (p.Arg143=)
c.277+1672G>C (p.=)
n.618G>C
n.277+1672G>C (p.=)
n.429G>C (p.Arg143=)
16g.3254639C>TCA493384346MEFVc.429G>A (p.Arg143=)
c.277+1672G>A (p.=)
n.618G>A
n.277+1672G>A (p.=)
n.429G>A (p.Arg143=)
gnomAD
16g.3254640C>ACA394481601MEFVc.428G>T (p.Arg143Leu)
c.277+1671G>T (p.=)
n.617G>T
n.277+1671G>T (p.=)
n.428G>T (p.Arg143Leu)
16g.3254640C>GCA280604MEFVc.428G>C (p.Arg143Pro)
c.277+1671G>C (p.=)
n.617G>C
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.617G>A
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.616C>T
n.277+1670C>T (p.=)
n.427C>T (p.Arg143Trp)
16g.3254641G>CCA394481610MEFVc.427C>G (p.Arg143Gly)
c.277+1670C>G (p.=)
n.616C>G
n.277+1670C>G (p.=)
n.427C>G (p.Arg143Gly)
16g.3254641G>TCA7860429MEFVc.427C>A (p.Arg143=)
c.277+1670C>A (p.=)
n.616C>A
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.615G>T
n.277+1669G>T (p.=)
n.426G>T (p.Leu142=)

Number of alleles fetched