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.111410094C>ACA414246683DCXc.305G>T (p.Arg102Leu)
c.548G>T (p.Arg183Leu)
c.523G>T
n.545G>T
Xg.111410094C=CA2451700375DCXc.305G= (p.Arg102=)
c.548G= (p.Arg183=)
c.523G=
n.545G=
Xg.111410094C>GCA414246684DCXc.305G>C (p.Arg102Pro)
c.548G>C (p.Arg183Pro)
c.523G>C
n.545G>C
Xg.111410094C>TCA171926DCXc.305G>A (p.Arg102His)
c.548G>A (p.Arg183His)
c.523G>A
n.545G>A
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.111410095G>ACA171923DCXc.304C>T (p.Arg102Cys)
c.547C>T (p.Arg183Cys)
c.522C>T
n.544C>T
ClinVar dbSNP COSMIC COSMIC
Xg.111410095G>CCA10603581DCXc.304C>G (p.Arg102Gly)
c.547C>G (p.Arg183Gly)
c.522C>G
n.544C>G
ClinVar dbSNP
Xg.111410095G=CA2451700376DCXc.304C= (p.Arg102=)
c.547C= (p.Arg183=)
c.522C=
n.544C=
Xg.111410095G>TCA414246685DCXc.304C>A (p.Arg102Ser)
c.547C>A (p.Arg183Ser)
c.522C>A
n.544C>A
ClinVar dbSNP
Xg.111410096C>ACA518033000DCXc.303G>T (p.Val101=)
c.546G>T (p.Val182=)
c.521G>T
n.543G>T
gnomAD v4
Xg.111410096C=CA2451700377DCXc.303G= (p.Val101=)
c.546G= (p.Val182=)
c.521G=
n.543G=
Xg.111410096C>GCA518033001DCXc.303G>C (p.Val101=)
c.546G>C (p.Val182=)
c.521G>C
n.543G>C
dbSNP
Xg.111410096C>TCA518033002DCXc.303G>A (p.Val101=)
c.546G>A (p.Val182=)
c.521G>A
n.543G>A
dbSNP gnomAD v3 gnomAD v4
Xg.111410097A>CCA414246686DCXc.302T>G (p.Val101Gly)
c.545T>G (p.Val182Gly)
c.520T>G
n.542T>G
ClinVar
Xg.111410097A>GCA414246688DCXc.302T>C (p.Val101Ala)
c.545T>C (p.Val182Ala)
c.520T>C
n.542T>C
Xg.111410097A>TCA414246687DCXc.302T>A (p.Val101Glu)
c.545T>A (p.Val182Glu)
c.520T>A
n.542T>A
Xg.111410098C>ACA414246689DCXc.301G>T (p.Val101Leu)
c.544G>T (p.Val182Leu)
c.519G>T
n.541G>T
Xg.111410098C=CA2451700378DCXc.301G= (p.Val101=)
c.544G= (p.Val182=)
c.519G=
n.541G=
Xg.111410098C>GCA414246690DCXc.301G>C (p.Val101Leu)
c.544G>C (p.Val182Leu)
c.519G>C
n.541G>C
Xg.111410098C>TCA171920DCXc.301G>A (p.Val101Met)
c.544G>A (p.Val182Met)
c.519G>A
n.541G>A
ClinVar dbSNP
Xg.111410099T>ACA518033004DCXc.300A>T (p.Gly100=)
c.543A>T (p.Gly181=)
c.518A>T
n.540A>T
Xg.111410099T>CCA518033005DCXc.300A>G (p.Gly100=)
c.543A>G (p.Gly181=)
c.518A>G
n.540A>G
Xg.111410099T>GCA518033007DCXc.300A>C (p.Gly100=)
c.543A>C (p.Gly181=)
c.518A>C
n.540A>C
Xg.111410100C>ACA171914DCXc.299G>T (p.Gly100Val)
c.542G>T (p.Gly181Val)
c.517G>T
n.539G>T
ClinVar dbSNP
Xg.111410100C=CA2451700379DCXc.299G= (p.Gly100=)
c.542G= (p.Gly181=)
c.517G=
n.539G=
Xg.111410100C>GCA414246691DCXc.299G>C (p.Gly100Ala)
c.542G>C (p.Gly181Ala)
c.517G>C
n.539G>C
Xg.111410100C>TCA171911DCXc.299G>A (p.Gly100Glu)
c.542G>A (p.Gly181Glu)
c.517G>A
n.539G>A
ClinVar dbSNP
Xg.111410101C>ACA414246692DCXc.298G>T (p.Gly100Ter)
c.541G>T (p.Gly181Ter)
c.516G>T
n.538G>T
Xg.111410101C>GCA414246693DCXc.298G>C (p.Gly100Arg)
c.541G>C (p.Gly181Arg)
c.516G>C
n.538G>C
ClinVar
Xg.111410101C>TCA414246694DCXc.298G>A (p.Gly100Arg)
c.541G>A (p.Gly181Arg)
c.516G>A
n.538G>A
COSMIC COSMIC
Xg.111410102C>ACA414246695DCXc.297G>T (p.Gln99His)
c.540G>T (p.Gln180His)
c.515G>T
n.537G>T
Xg.111410102C>GCA414246696DCXc.297G>C (p.Gln99His)
c.540G>C (p.Gln180His)
c.515G>C
n.537G>C
Xg.111410102C>TCA518033013DCXc.297G>A (p.Gln99=)
c.540G>A (p.Gln180=)
c.515G>A
n.537G>A
gnomAD v4
Xg.111410103T>ACA414246699DCXc.296A>T (p.Gln99Leu)
c.539A>T (p.Gln180Leu)
c.514A>T
n.536A>T
Xg.111410103T>CCA414246698DCXc.296A>G (p.Gln99Arg)
c.539A>G (p.Gln180Arg)
c.514A>G
n.536A>G
Xg.111410103T>GCA414246697DCXc.296A>C (p.Gln99Pro)
c.539A>C (p.Gln180Pro)
c.514A>C
n.536A>C
Xg.111410104G>ACA414246700DCXc.295C>T (p.Gln99Ter)
c.538C>T (p.Gln180Ter)
c.513C>T
n.535C>T
Xg.111410104G>CCA414246701DCXc.295C>G (p.Gln99Glu)
c.538C>G (p.Gln180Glu)
c.513C>G
n.535C>G
Xg.111410104G>TCA414246702DCXc.295C>A (p.Gln99Lys)
c.538C>A (p.Gln180Lys)
c.513C>A
n.535C>A
Xg.111410105A>CCA518033019DCXc.294T>G (p.Pro98=)
c.537T>G (p.Pro179=)
c.512T>G
n.534T>G
Xg.111410105A>GCA518033021DCXc.294T>C (p.Pro98=)
c.537T>C (p.Pro179=)
c.512T>C
n.534T>C
Xg.111410105A>TCA518033022DCXc.294T>A (p.Pro98=)
c.537T>A (p.Pro179=)
c.512T>A
n.534T>A
Xg.111410106G>ACA414246703DCXc.293C>T (p.Pro98Leu)
c.536C>T (p.Pro179Leu)
c.511C>T
n.533C>T
Xg.111410106G>CCA414246704DCXc.293C>G (p.Pro98Arg)
c.536C>G (p.Pro179Arg)
c.511C>G
n.533C>G
Xg.111410106G>TCA414246705DCXc.293C>A (p.Pro98His)
c.536C>A (p.Pro179His)
c.511C>A
n.533C>A
Xg.111410107G>ACA414246706DCXc.292C>T (p.Pro98Ser)
c.535C>T (p.Pro179Ser)
c.510C>T
n.532C>T
Xg.111410107G>CCA414246707DCXc.292C>G (p.Pro98Ala)
c.535C>G (p.Pro179Ala)
c.510C>G
n.532C>G
Xg.111410107G>TCA414246708DCXc.292C>A (p.Pro98Thr)
c.535C>A (p.Pro179Thr)
c.510C>A
n.532C>A
Xg.111410108C>ACA518033028DCXc.291G>T (p.Leu97=)
c.534G>T (p.Leu178=)
c.509G>T
n.531G>T
Xg.111410108C>GCA518033026DCXc.291G>C (p.Leu97=)
c.534G>C (p.Leu178=)
c.509G>C
n.531G>C

Number of alleles fetched