Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111410074_111410766delCA2580612296DCXc.-23+134_326del
c.-22-345_326del
c.-34_326del
c.210_569del
c.185_544del
n.219-345_566del
 ClinVar
Xg.111410217_111410228delCA2580100215DCXc.171_182del (p.Phe57_Gly61delinsLeu)
c.414_425del (p.Phe138_Gly142delinsLeu)
c.389_400del
n.411_422del
 ClinVar
Xg.111410223C>ACA121596DCXc.176G>T (p.Arg59Leu)
c.419G>T (p.Arg140Leu)
c.394G>T
n.416G>T
 ClinVar dbSNP
Xg.111410223C=CA2451700412DCXc.176G= (p.Arg59=)
c.419G= (p.Arg140=)
c.394G=
n.416G=
Xg.111410223C>GCA414246945DCXc.176G>C (p.Arg59Pro)
c.419G>C (p.Arg140Pro)
c.394G>C
n.416G>C
Xg.111410223C>TCA171866DCXc.176G>A (p.Arg59His)
c.419G>A (p.Arg140His)
c.394G>A
n.416G>A
 ClinVar dbSNP COSMIC
Xg.111410224G>ACA414246946DCXc.175C>T (p.Arg59Cys)
c.418C>T (p.Arg140Cys)
c.393C>T
n.415C>T
Xg.111410224G>CCA414246947DCXc.175C>G (p.Arg59Gly)
c.418C>G (p.Arg140Gly)
c.393C>G
n.415C>G
Xg.111410224G>TCA414246948DCXc.175C>A (p.Arg59Ser)
c.418C>A (p.Arg140Ser)
c.393C>A
n.415C>A
Xg.111410225G>ACA518114648DCXc.174C>T (p.Tyr58=)
c.417C>T (p.Tyr139=)
c.392C>T
n.414C>T
 gnomAD v4
Xg.111410225G>CCA414246949DCXc.174C>G (p.Tyr58Ter)
c.417C>G (p.Tyr139Ter)
c.392C>G
n.414C>G
Xg.111410225G>TCA414246950DCXc.174C>A (p.Tyr58Ter)
c.417C>A (p.Tyr139Ter)
c.392C>A
n.414C>A
Xg.111410226T>ACA414246951DCXc.173A>T (p.Tyr58Phe)
c.416A>T (p.Tyr139Phe)
c.391A>T
n.413A>T
Xg.111410226T>CCA414246952DCXc.173A>G (p.Tyr58Cys)
c.416A>G (p.Tyr139Cys)
c.391A>G
n.413A>G
Xg.111410226T>GCA414246953DCXc.173A>C (p.Tyr58Ser)
c.416A>C (p.Tyr139Ser)
c.391A>C
n.413A>C
Xg.111410227A>CCA414246954DCXc.172T>G (p.Tyr58Asp)
c.415T>G (p.Tyr139Asp)
c.390T>G
n.412T>G
Xg.111410227A>GCA414246955DCXc.172T>C (p.Tyr58His)
c.415T>C (p.Tyr139His)
c.390T>C
n.412T>C
Xg.111410227A>TCA414246956DCXc.172T>A (p.Tyr58Asn)
c.415T>A (p.Tyr139Asn)
c.390T>A
n.412T>A
Xg.111410228G>ACA518114652DCXc.171C>T (p.Phe57=)
c.414C>T (p.Phe138=)
c.389C>T
n.411C>T
Xg.111410228G>CCA414246957DCXc.171C>G (p.Phe57Leu)
c.414C>G (p.Phe138Leu)
c.389C>G
n.411C>G
Xg.111410228G>TCA414246958DCXc.171C>A (p.Phe57Leu)
c.414C>A (p.Phe138Leu)
c.389C>A
n.411C>A
Xg.111410229A=CA2451700413DCXc.170T= (p.Phe57=)
c.413T= (p.Phe138=)
c.388T=
n.410T=
Xg.111410229A>CCA171863DCXc.170T>G (p.Phe57Cys)
c.413T>G (p.Phe138Cys)
c.388T>G
n.410T>G
 ClinVar dbSNP
Xg.111410229A>GCA414246960DCXc.170T>C (p.Phe57Ser)
c.413T>C (p.Phe138Ser)
c.388T>C
n.410T>C
Xg.111410229A>TCA414246959DCXc.170T>A (p.Phe57Tyr)
c.413T>A (p.Phe138Tyr)
c.388T>A
n.410T>A
Xg.111410230A>CCA414246961DCXc.169T>G (p.Phe57Val)
c.412T>G (p.Phe138Val)
c.387T>G
n.409T>G
Xg.111410230A>GCA414246963DCXc.169T>C (p.Phe57Leu)
c.412T>C (p.Phe138Leu)
c.387T>C
n.409T>C
Xg.111410230A>TCA414246962DCXc.169T>A (p.Phe57Ile)
c.412T>A (p.Phe138Ile)
c.387T>A
n.409T>A
Xg.111410231A>CCA518114654DCXc.168T>G (p.Arg56=)
c.411T>G (p.Arg137=)
c.386T>G
n.408T>G
Xg.111410231A>GCA518114655DCXc.168T>C (p.Arg56=)
c.411T>C (p.Arg137=)
c.386T>C
n.408T>C
Xg.111410231A>TCA518114656DCXc.168T>A (p.Arg56=)
c.411T>A (p.Arg137=)
c.386T>A
n.408T>A
Xg.111410232C>ACA414246964DCXc.167G>T (p.Arg56Leu)
c.410G>T (p.Arg137Leu)
c.385G>T
n.407G>T
 ClinVar dbSNP
Xg.111410232C=CA2451700414DCXc.167G= (p.Arg56=)
c.410G= (p.Arg137=)
c.385G=
n.407G=
Xg.111410232C>GCA171860DCXc.167G>C (p.Arg56Pro)
c.410G>C (p.Arg137Pro)
c.385G>C
n.407G>C
 ClinVar dbSNP
Xg.111410232C>TCA414246965DCXc.167G>A (p.Arg56His)
c.410G>A (p.Arg137His)
c.385G>A
n.407G>A
 gnomAD v4 COSMIC COSMIC
Xg.111410233G>ACA414246966DCXc.166C>T (p.Arg56Cys)
c.409C>T (p.Arg137Cys)
c.384C>T
n.406C>T
Xg.111410233G>CCA414246967DCXc.166C>G (p.Arg56Gly)
c.409C>G (p.Arg137Gly)
c.384C>G
n.406C>G
Xg.111410233G>TCA414246968DCXc.166C>A (p.Arg56Ser)
c.409C>A (p.Arg137Ser)
c.384C>A
n.406C>A
Xg.111410234T>ACA518114658DCXc.165A>T (p.Val55=)
c.408A>T (p.Val136=)
c.383A>T
n.405A>T
Xg.111410234T>CCA518114659DCXc.165A>G (p.Val55=)
c.408A>G (p.Val136=)
c.383A>G
n.405A>G
Xg.111410234T>GCA518114660DCXc.165A>C (p.Val55=)
c.408A>C (p.Val136=)
c.383A>C
n.405A>C
Xg.111410235A>CCA414246969DCXc.164T>G (p.Val55Gly)
c.407T>G (p.Val136Gly)
c.382T>G
n.404T>G
Xg.111410235A>GCA414246970DCXc.164T>C (p.Val55Ala)
c.407T>C (p.Val136Ala)
c.382T>C
n.404T>C
Xg.111410235A>TCA414246971DCXc.164T>A (p.Val55Glu)
c.407T>A (p.Val136Glu)
c.382T>A
n.404T>A
Xg.111410236C>ACA414246974DCXc.163G>T (p.Val55Leu)
c.406G>T (p.Val136Leu)
c.381G>T
n.403G>T
 dbSNP gnomAD v2
Xg.111410236C=CA2451700415DCXc.163G= (p.Val55=)
c.406G= (p.Val136=)
c.381G=
n.403G=
Xg.111410236C>GCA414246972DCXc.163G>C (p.Val55Leu)
c.406G>C (p.Val136Leu)
c.381G>C
n.403G>C
Xg.111410236C>TCA414246973DCXc.163G>A (p.Val55Ile)
c.406G>A (p.Val136Ile)
c.381G>A
n.403G>A
Xg.111410237C>ACA414246975DCXc.162G>T (p.Lys54Asn)
c.405G>T (p.Lys135Asn)
c.380G>T
n.402G>T
Xg.111410237C=CA2451700416DCXc.162G= (p.Lys54=)
c.405G= (p.Lys135=)
c.380G=
n.402G=

Number of alleles fetched