Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111401222dupCA2499226335DCXc.478dup (p.Gln160ProfsTer5)
c.721dup (p.Gln241ProfsTer5)
c.696dup
n.718dup
ClinVar dbSNP
Xg.111401222delCA2499226334DCXc.478del (p.Gln160SerfsTer30)
c.721del (p.Gln241SerfsTer30)
c.696del
n.718del
ClinVar dbSNP
Xg.111401222G>ACA414246287DCXc.473C>T (p.Ala158Val)
c.716C>T (p.Ala239Val)
c.691C>T
n.713C>T
dbSNP gnomAD v2 gnomAD v4
Xg.111401222G>CCA414246288DCXc.473C>G (p.Ala158Gly)
c.716C>G (p.Ala239Gly)
c.691C>G
n.713C>G
Xg.111401222G=CA2451697264DCXc.473C= (p.Ala158=)
c.716C= (p.Ala239=)
c.691C=
n.713C=
Xg.111401222G>TCA414246289DCXc.473C>A (p.Ala158Asp)
c.716C>A (p.Ala239Asp)
c.691C>A
n.713C>A
Xg.111401223C>ACA414246290DCXc.472G>T (p.Ala158Ser)
c.715G>T (p.Ala239Ser)
c.690G>T
n.712G>T
COSMIC COSMIC
Xg.111401223C>GCA414246291DCXc.472G>C (p.Ala158Pro)
c.715G>C (p.Ala239Pro)
c.690G>C
n.712G>C
Xg.111401223C>TCA414246292DCXc.472G>A (p.Ala158Thr)
c.715G>A (p.Ala239Thr)
c.690G>A
n.712G>A
Xg.111401224T>ACA414246294DCXc.471A>T (p.Lys157Asn)
c.714A>T (p.Lys238Asn)
c.689A>T
n.711A>T
Xg.111401224T>CCA518114203DCXc.471A>G (p.Lys157=)
c.714A>G (p.Lys238=)
c.689A>G
n.711A>G
Xg.111401224T>GCA414246293DCXc.471A>C (p.Lys157Asn)
c.714A>C (p.Lys238Asn)
c.689A>C
n.711A>C
Xg.111401225T>ACA414246295DCXc.470A>T (p.Lys157Ile)
c.713A>T (p.Lys238Ile)
c.688A>T
n.710A>T
Xg.111401225T>CCA414246296DCXc.470A>G (p.Lys157Arg)
c.713A>G (p.Lys238Arg)
c.688A>G
n.710A>G
Xg.111401225T>GCA414246297DCXc.470A>C (p.Lys157Thr)
c.713A>C (p.Lys238Thr)
c.688A>C
n.710A>C
Xg.111401226T>ACA414246298DCXc.469A>T (p.Lys157Ter)
c.712A>T (p.Lys238Ter)
c.687A>T
n.709A>T
Xg.111401226T>CCA414246299DCXc.469A>G (p.Lys157Glu)
c.712A>G (p.Lys238Glu)
c.687A>G
n.709A>G
COSMIC
Xg.111401226T>GCA414246300DCXc.469A>C (p.Lys157Gln)
c.712A>C (p.Lys238Gln)
c.687A>C
n.709A>C
Xg.111401227C>ACA414246302DCXc.468G>T (p.Met156Ile)
c.711G>T (p.Met237Ile)
c.686G>T
n.708G>T
Xg.111401227C=CA2451697265DCXc.468G= (p.Met156=)
c.711G= (p.Met237=)
c.686G=
n.708G=
Xg.111401227C>GCA414246301DCXc.468G>C (p.Met156Ile)
c.711G>C (p.Met237Ile)
c.686G>C
n.708G>C
Xg.111401227C>TCA334420247DCXc.468G>A (p.Met156Ile)
c.711G>A (p.Met237Ile)
c.686G>A
n.708G>A
dbSNP
Xg.111401228A>CCA414246303DCXc.467T>G (p.Met156Arg)
c.710T>G (p.Met237Arg)
c.685T>G
n.707T>G
Xg.111401228A>GCA414246304DCXc.467T>C (p.Met156Thr)
c.710T>C (p.Met237Thr)
c.685T>C
n.707T>C
Xg.111401228A>TCA414246305DCXc.467T>A (p.Met156Lys)
c.710T>A (p.Met237Lys)
c.685T>A
n.707T>A
Xg.111401228dupCA10603401DCXc.467dup (p.Met156IlefsTer9)
c.710dup (p.Met237IlefsTer9)
c.685dup
n.707dup
ClinVar dbSNP
Xg.111401228_111401231delCA2561695268DCXc.464_467del (p.Asn155ArgfsTer?)
c.707_710del (p.Asn236ArgfsTer?)
c.682_685del
n.704_707del
Xg.111401229T>ACA414246306DCXc.466A>T (p.Met156Leu)
c.709A>T (p.Met237Leu)
c.684A>T
n.706A>T
gnomAD v4
Xg.111401229T>CCA414246307DCXc.466A>G (p.Met156Val)
c.709A>G (p.Met237Val)
c.684A>G
n.706A>G
Xg.111401229T>GCA414246308DCXc.466A>C (p.Met156Leu)
c.709A>C (p.Met237Leu)
c.684A>C
n.706A>C
Xg.111401230A>CCA414246309DCXc.465T>G (p.Asn155Lys)
c.708T>G (p.Asn236Lys)
c.683T>G
n.705T>G
Xg.111401230A>GCA518114204DCXc.465T>C (p.Asn155=)
c.708T>C (p.Asn236=)
c.683T>C
n.705T>C
gnomAD v4
Xg.111401230A>TCA414246310DCXc.465T>A (p.Asn155Lys)
c.708T>A (p.Asn236Lys)
c.683T>A
n.705T>A
Xg.111401231T>ACA414246311DCXc.464A>T (p.Asn155Ile)
c.707A>T (p.Asn236Ile)
c.682A>T
n.704A>T
Xg.111401231T>CCA414246313DCXc.464A>G (p.Asn155Ser)
c.707A>G (p.Asn236Ser)
c.682A>G
n.704A>G
dbSNP gnomAD v2 gnomAD v4
Xg.111401231T>GCA414246312DCXc.464A>C (p.Asn155Thr)
c.707A>C (p.Asn236Thr)
c.682A>C
n.704A>C
Xg.111401231T=CA2451697266DCXc.464A= (p.Asn155=)
c.707A= (p.Asn236=)
c.682A=
n.704A=
Xg.111401232delCA2695235804DCXc.464del (p.Asn155IlefsTer2)
c.707del (p.Asn236IlefsTer2)
c.682del
n.704del
Xg.111401232T>ACA414246314DCXc.463A>T (p.Asn155Tyr)
c.706A>T (p.Asn236Tyr)
c.681A>T
n.703A>T
Xg.111401232T>CCA414246316DCXc.463A>G (p.Asn155Asp)
c.706A>G (p.Asn236Asp)
c.681A>G
n.703A>G
gnomAD v4
Xg.111401232T>GCA414246315DCXc.463A>C (p.Asn155His)
c.706A>C (p.Asn236His)
c.681A>C
n.703A>C
Xg.111401233G>ACA518114205DCXc.462C>T (p.Ala154=)
c.705C>T (p.Ala235=)
c.680C>T
n.702C>T
Xg.111401233G>CCA518114206DCXc.462C>G (p.Ala154=)
c.705C>G (p.Ala235=)
c.680C>G
n.702C>G
Xg.111401233G>TCA518114207DCXc.462C>A (p.Ala154=)
c.705C>A (p.Ala235=)
c.680C>A
n.702C>A
Xg.111401234G>ACA414246317DCXc.461C>T (p.Ala154Val)
c.704C>T (p.Ala235Val)
c.679C>T
n.701C>T
Xg.111401234G>CCA414246319DCXc.461C>G (p.Ala154Gly)
c.704C>G (p.Ala235Gly)
c.679C>G
n.701C>G
Xg.111401234G>TCA414246318DCXc.461C>A (p.Ala154Asp)
c.704C>A (p.Ala235Asp)
c.679C>A
n.701C>A
Xg.111401234_111401235insTTAGCA2509294496DCXc.461_462insTAAC (p.Met156GlnfsTer10)
c.704_705insTAAC (p.Met237GlnfsTer10)
c.679_680insTAAC
n.701_702insTAAC
Xg.111401235C>ACA414246320DCXc.460G>T (p.Ala154Ser)
c.703G>T (p.Ala235Ser)
c.678G>T
n.700G>T
Xg.111401235C>GCA414246321DCXc.460G>C (p.Ala154Pro)
c.703G>C (p.Ala235Pro)
c.678G>C
n.700G>C

Number of alleles fetched