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
Xg.111410108C>TCA518033027DCXc.291G>A (p.Leu97=)
c.534G>A (p.Leu178=)
c.509G>A
n.531G>A
Xg.111410109A=CA2451700380DCXc.290T= (p.Leu97=)
c.533T= (p.Leu178=)
c.508T=
n.530T=
Xg.111410109A>CCA171908DCXc.290T>G (p.Leu97Arg)
c.533T>G (p.Leu178Arg)
c.508T>G
n.530T>G
 ClinVar dbSNP
Xg.111410109A>GCA414246709DCXc.290T>C (p.Leu97Pro)
c.533T>C (p.Leu178Pro)
c.508T>C
n.530T>C
Xg.111410109A>TCA414246710DCXc.290T>A (p.Leu97Gln)
c.533T>A (p.Leu178Gln)
c.508T>A
n.530T>A
Xg.111410110G>ACA518033032DCXc.289C>T (p.Leu97=)
c.532C>T (p.Leu178=)
c.507C>T
n.529C>T
Xg.111410110G>CCA414246711DCXc.289C>G (p.Leu97Val)
c.532C>G (p.Leu178Val)
c.507C>G
n.529C>G
 ClinVar dbSNP
Xg.111410110G=CA2451700381DCXc.289C= (p.Leu97=)
c.532C= (p.Leu178=)
c.507C=
n.529C=
Xg.111410110G>TCA414246712DCXc.289C>A (p.Leu97Met)
c.532C>A (p.Leu178Met)
c.507C>A
n.529C>A
Xg.111410111G>ACA518033033DCXc.288C>T (p.Asn96=)
c.531C>T (p.Asn177=)
c.506C>T
n.528C>T
Xg.111410111G>CCA414246713DCXc.288C>G (p.Asn96Lys)
c.531C>G (p.Asn177Lys)
c.506C>G
n.528C>G
Xg.111410111G=CA2451700382DCXc.288C= (p.Asn96=)
c.531C= (p.Asn177=)
c.506C=
n.528C=
Xg.111410111G>TCA414246714DCXc.288C>A (p.Asn96Lys)
c.531C>A (p.Asn177Lys)
c.506C>A
n.528C>A
 ClinVar dbSNP
Xg.111410112T>ACA414246715DCXc.287A>T (p.Asn96Ile)
c.530A>T (p.Asn177Ile)
c.505A>T
n.527A>T
Xg.111410112T>CCA414246716DCXc.287A>G (p.Asn96Ser)
c.530A>G (p.Asn177Ser)
c.505A>G
n.527A>G
Xg.111410112T>GCA414246717DCXc.287A>C (p.Asn96Thr)
c.530A>C (p.Asn177Thr)
c.505A>C
n.527A>C
Xg.111410113T>ACA414246718DCXc.286A>T (p.Asn96Tyr)
c.529A>T (p.Asn177Tyr)
c.504A>T
n.526A>T
Xg.111410113T>CCA414246719DCXc.286A>G (p.Asn96Asp)
c.529A>G (p.Asn177Asp)
c.504A>G
n.526A>G
Xg.111410113T>GCA414246720DCXc.286A>C (p.Asn96His)
c.529A>C (p.Asn177His)
c.504A>C
n.526A>C
Xg.111410114G>ACA518033036DCXc.285C>T (p.Ile95=)
c.528C>T (p.Ile176=)
c.503C>T
n.525C>T
Xg.111410114G>CCA414246721DCXc.285C>G (p.Ile95Met)
c.528C>G (p.Ile176Met)
c.503C>G
n.525C>G
Xg.111410114G>TCA518033037DCXc.285C>A (p.Ile95=)
c.528C>A (p.Ile176=)
c.503C>A
n.525C>A
 gnomAD v3 gnomAD v4
Xg.111410115A>CCA414246722DCXc.284T>G (p.Ile95Ser)
c.527T>G (p.Ile176Ser)
c.502T>G
n.524T>G
Xg.111410115A>GCA414246723DCXc.284T>C (p.Ile95Thr)
c.527T>C (p.Ile176Thr)
c.502T>C
n.524T>C
Xg.111410115A>TCA414246724DCXc.284T>A (p.Ile95Asn)
c.527T>A (p.Ile176Asn)
c.502T>A
n.524T>A
Xg.111410116T>ACA414246725DCXc.283A>T (p.Ile95Phe)
c.526A>T (p.Ile176Phe)
c.501A>T
n.523A>T
Xg.111410116T>CCA414246726DCXc.283A>G (p.Ile95Val)
c.526A>G (p.Ile176Val)
c.501A>G
n.523A>G
Xg.111410116T>GCA414246727DCXc.283A>C (p.Ile95Leu)
c.526A>C (p.Ile176Leu)
c.501A>C
n.523A>C
Xg.111410117G>ACA518033041DCXc.282C>T (p.Asn94=)
c.525C>T (p.Asn175=)
c.500C>T
n.522C>T
 gnomAD v4
Xg.111410117G>CCA414246729DCXc.282C>G (p.Asn94Lys)
c.525C>G (p.Asn175Lys)
c.500C>G
n.522C>G
Xg.111410117G>TCA414246728DCXc.282C>A (p.Asn94Lys)
c.525C>A (p.Asn175Lys)
c.500C>A
n.522C>A
Xg.111410118T>ACA414246730DCXc.281A>T (p.Asn94Ile)
c.524A>T (p.Asn175Ile)
c.499A>T
n.521A>T
Xg.111410118T>CCA414246732DCXc.281A>G (p.Asn94Ser)
c.524A>G (p.Asn175Ser)
c.499A>G
n.521A>G
Xg.111410118T>GCA414246731DCXc.281A>C (p.Asn94Thr)
c.524A>C (p.Asn175Thr)
c.499A>C
n.521A>C
Xg.111410119T>ACA414246733DCXc.280A>T (p.Asn94Tyr)
c.523A>T (p.Asn175Tyr)
c.498A>T
n.520A>T
Xg.111410119T>CCA205961DCXc.280A>G (p.Asn94Asp)
c.523A>G (p.Asn175Asp)
c.498A>G
n.520A>G
 ClinVar dbSNP
Xg.111410119T>GCA414246734DCXc.280A>C (p.Asn94His)
c.523A>C (p.Asn175His)
c.498A>C
n.520A>C
Xg.111410119T=CA2451700383DCXc.280A= (p.Asn94=)
c.523A= (p.Asn175=)
c.498A=
n.520A=
Xg.111410120G>ACA518033045DCXc.279C>T (p.Asp93=)
c.522C>T (p.Asp174=)
c.497C>T
n.519C>T
Xg.111410120G>CCA414246735DCXc.279C>G (p.Asp93Glu)
c.522C>G (p.Asp174Glu)
c.497C>G
n.519C>G
Xg.111410120G>TCA414246736DCXc.279C>A (p.Asp93Glu)
c.522C>A (p.Asp174Glu)
c.497C>A
n.519C>A
Xg.111410121T>ACA414246737DCXc.278A>T (p.Asp93Val)
c.521A>T (p.Asp174Val)
c.496A>T
n.518A>T
Xg.111410121T>CCA414246738DCXc.278A>G (p.Asp93Gly)
c.521A>G (p.Asp174Gly)
c.496A>G
n.518A>G
Xg.111410121T>GCA414246739DCXc.278A>C (p.Asp93Ala)
c.521A>C (p.Asp174Ala)
c.496A>C
n.518A>C
Xg.111410121_111410125delinsTCAGACA2451700384DCXc.274_278delinsTCTGA (p.Ser92=)
c.517_521delinsTCTGA (p.Ser173=)
c.492_496delinsTCTGA
n.514_518delinsTCTGA
Xg.111410122C>ACA414246740DCXc.277G>T (p.Asp93Tyr)
c.520G>T (p.Asp174Tyr)
c.495G>T
n.517G>T
Xg.111410122C>GCA414246741DCXc.277G>C (p.Asp93His)
c.520G>C (p.Asp174His)
c.495G>C
n.517G>C
Xg.111410122C>TCA414246742DCXc.277G>A (p.Asp93Asn)
c.520G>A (p.Asp174Asn)
c.495G>A
n.517G>A
Xg.111410126_111410129delCA658659034DCXc.274_277del (p.Ser92ThrfsTer?)
c.517_520del (p.Ser173ThrfsTer?)
c.492_495del
n.514_517del
 ClinVar dbSNP
Xg.111410123A>CCA518033047DCXc.276T>G (p.Ser92=)
c.519T>G (p.Ser173=)
c.494T>G
n.516T>G
Xg.111410123A>GCA518033049DCXc.276T>C (p.Ser92=)
c.519T>C (p.Ser173=)
c.494T>C
n.516T>C
Xg.111410123A>TCA518033050DCXc.276T>A (p.Ser92=)
c.519T>A (p.Ser173=)
c.494T>A
n.516T>A
Xg.111410124G>ACA414246743DCXc.275C>T (p.Ser92Phe)
c.518C>T (p.Ser173Phe)
c.493C>T
n.515C>T
 COSMIC
Xg.111410124G>CCA414246744DCXc.275C>G (p.Ser92Cys)
c.518C>G (p.Ser173Cys)
c.493C>G
n.515C>G
Xg.111410124G>TCA414246745DCXc.275C>A (p.Ser92Tyr)
c.518C>A (p.Ser173Tyr)
c.493C>A
n.515C>A
Xg.111410125A>CCA414246746DCXc.274T>G (p.Ser92Ala)
c.517T>G (p.Ser173Ala)
c.492T>G
n.514T>G
Xg.111410125A>GCA414246747DCXc.274T>C (p.Ser92Pro)
c.517T>C (p.Ser173Pro)
c.492T>C
n.514T>C
Xg.111410125A>TCA414246748DCXc.274T>A (p.Ser92Thr)
c.517T>A (p.Ser173Thr)
c.492T>A
n.514T>A
Xg.111410126C>ACA518033054DCXc.273G>T (p.Leu91=)
c.516G>T (p.Leu172=)
c.491G>T
n.513G>T
Xg.111410126C>GCA518033055DCXc.273G>C (p.Leu91=)
c.516G>C (p.Leu172=)
c.491G>C
n.513G>C
 gnomAD v4
Xg.111410126C>TCA518033057DCXc.273G>A (p.Leu91=)
c.516G>A (p.Leu172=)
c.491G>A
n.513G>A
Xg.111410127A=CA2451700385DCXc.272T= (p.Leu91=)
c.515T= (p.Leu172=)
c.490T=
n.512T=
Xg.111410127A>CCA414246750DCXc.272T>G (p.Leu91Arg)
c.515T>G (p.Leu172Arg)
c.490T>G
n.512T>G
Xg.111410127A>GCA171905DCXc.272T>C (p.Leu91Pro)
c.515T>C (p.Leu172Pro)
c.490T>C
n.512T>C
 ClinVar dbSNP
Xg.111410127A>TCA414246749DCXc.272T>A (p.Leu91Gln)
c.515T>A (p.Leu172Gln)
c.490T>A
n.512T>A
Xg.111410128G>ACA518114467DCXc.271C>T (p.Leu91=)
c.514C>T (p.Leu172=)
c.489C>T
n.511C>T
 gnomAD v4
Xg.111410128G>CCA414246751DCXc.271C>G (p.Leu91Val)
c.514C>G (p.Leu172Val)
c.489C>G
n.511C>G
Xg.111410128G>TCA414246752DCXc.271C>A (p.Leu91Met)
c.514C>A (p.Leu172Met)
c.489C>A
n.511C>A
Xg.111410129A>CCA518114471DCXc.270T>G (p.Ser90=)
c.513T>G (p.Ser171=)
c.488T>G
n.510T>G
Xg.111410129A>GCA518114468DCXc.270T>C (p.Ser90=)
c.513T>C (p.Ser171=)
c.488T>C
n.510T>C
Xg.111410129A>TCA518114470DCXc.270T>A (p.Ser90=)
c.513T>A (p.Ser171=)
c.488T>A
n.510T>A
Xg.111410130G>ACA414246753DCXc.269C>T (p.Ser90Phe)
c.512C>T (p.Ser171Phe)
c.487C>T
n.509C>T
Xg.111410130G>CCA414246754DCXc.269C>G (p.Ser90Cys)
c.512C>G (p.Ser171Cys)
c.487C>G
n.509C>G
Xg.111410130G>TCA414246755DCXc.269C>A (p.Ser90Tyr)
c.512C>A (p.Ser171Tyr)
c.487C>A
n.509C>A
Xg.111410131A>CCA414246756DCXc.268T>G (p.Ser90Ala)
c.511T>G (p.Ser171Ala)
c.486T>G
n.508T>G
Xg.111410131A>GCA414246757DCXc.268T>C (p.Ser90Pro)
c.511T>C (p.Ser171Pro)
c.486T>C
n.508T>C
Xg.111410131A>TCA414246758DCXc.268T>A (p.Ser90Thr)
c.511T>A (p.Ser171Thr)
c.486T>A
n.508T>A
Xg.111410132T>ACA518114473DCXc.267A>T (p.Arg89=)
c.510A>T (p.Arg170=)
c.485A>T
n.507A>T
Xg.111410132T>CCA518114474DCXc.267A>G (p.Arg89=)
c.510A>G (p.Arg170=)
c.485A>G
n.507A>G
Xg.111410132T>GCA518114475DCXc.267A>C (p.Arg89=)
c.510A>C (p.Arg170=)
c.485A>C
n.507A>C
Xg.111410133C>ACA414246759DCXc.266G>T (p.Arg89Leu)
c.509G>T (p.Arg170Leu)
c.484G>T
n.506G>T
Xg.111410133C=CA2451700386DCXc.266G= (p.Arg89=)
c.509G= (p.Arg170=)
c.484G=
n.506G=
Xg.111410133C>GCA171902DCXc.266G>C (p.Arg89Pro)
c.509G>C (p.Arg170Pro)
c.484G>C
n.506G>C
 ClinVar dbSNP
Xg.111410133C>TCA414246760DCXc.266G>A (p.Arg89Gln)
c.509G>A (p.Arg170Gln)
c.484G>A
n.506G>A
 ClinVar dbSNP COSMIC COSMIC
Xg.111410134G>ACA171899DCXc.265C>T (p.Arg89Ter)
c.508C>T (p.Arg170Ter)
c.483C>T
n.505C>T
 ClinVar dbSNP COSMIC COSMIC
Xg.111410134G>CCA121604DCXc.265C>G (p.Arg89Gly)
c.508C>G (p.Arg170Gly)
c.483C>G
n.505C>G
 ClinVar dbSNP
Xg.111410134G=CA2451700387DCXc.265C= (p.Arg89=)
c.508C= (p.Arg170=)
c.483C=
n.505C=
Xg.111410134G>TCA518114477DCXc.265C>A (p.Arg89=)
c.508C>A (p.Arg170=)
c.483C>A
n.505C>A
Xg.111410135C>ACA518114478DCXc.264G>T (p.Thr88=)
c.507G>T (p.Thr169=)
c.482G>T
n.504G>T
Xg.111410135C>GCA518114479DCXc.264G>C (p.Thr88=)
c.507G>C (p.Thr169=)
c.482G>C
n.504G>C
Xg.111410135C>TCA518114480DCXc.264G>A (p.Thr88=)
c.507G>A (p.Thr169=)
c.482G>A
n.504G>A
 gnomAD v4
Xg.111410136G>ACA414246762DCXc.263C>T (p.Thr88Met)
c.506C>T (p.Thr169Met)
c.481C>T
n.503C>T
 ClinVar COSMIC COSMIC
Xg.111410136G>CCA414246763DCXc.263C>G (p.Thr88Arg)
c.506C>G (p.Thr169Arg)
c.481C>G
n.503C>G
 ClinVar dbSNP
Xg.111410136G>TCA414246761DCXc.263C>A (p.Thr88Lys)
c.506C>A (p.Thr169Lys)
c.481C>A
n.503C>A
Xg.111410137T>ACA414246764DCXc.262A>T (p.Thr88Ser)
c.505A>T (p.Thr169Ser)
c.480A>T
n.502A>T
Xg.111410137T>CCA414246765DCXc.262A>G (p.Thr88Ala)
c.505A>G (p.Thr169Ala)
c.480A>G
n.502A>G
Xg.111410137T>GCA414246766DCXc.262A>C (p.Thr88Pro)
c.505A>C (p.Thr169Pro)
c.480A>C
n.502A>C
Xg.111410138C>ACA518114482DCXc.261G>T (p.Leu87=)
c.504G>T (p.Leu168=)
c.479G>T
n.501G>T
Xg.111410138C>GCA518114483DCXc.261G>C (p.Leu87=)
c.504G>C (p.Leu168=)
c.479G>C
n.501G>C
Xg.111410138C>TCA518114485DCXc.261G>A (p.Leu87=)
c.504G>A (p.Leu168=)
c.479G>A
n.501G>A
Xg.111410139A>CCA414246767DCXc.260T>G (p.Leu87Arg)
c.503T>G (p.Leu168Arg)
c.478T>G
n.500T>G
Xg.111410139A>GCA414246768DCXc.260T>C (p.Leu87Pro)
c.503T>C (p.Leu168Pro)
c.478T>C
n.500T>C
Xg.111410139A>TCA414246769DCXc.260T>A (p.Leu87Gln)
c.503T>A (p.Leu168Gln)
c.478T>A
n.500T>A
Xg.111410140G>ACA518114488DCXc.259C>T (p.Leu87=)
c.502C>T (p.Leu168=)
c.477C>T
n.499C>T
Xg.111410140G>CCA414246770DCXc.259C>G (p.Leu87Val)
c.502C>G (p.Leu168Val)
c.477C>G
n.499C>G
Xg.111410140G>TCA414246771DCXc.259C>A (p.Leu87Met)
c.502C>A (p.Leu168Met)
c.477C>A
n.499C>A
Xg.111410141G>ACA334420941DCXc.258C>T (p.Asp86=)
c.501C>T (p.Asp167=)
c.476C>T
n.498C>T
 dbSNP
Xg.111410141G>CCA414246772DCXc.258C>G (p.Asp86Glu)
c.501C>G (p.Asp167Glu)
c.476C>G
n.498C>G
Xg.111410141G=CA2451700388DCXc.258C= (p.Asp86=)
c.501C= (p.Asp167=)
c.476C=
n.498C=
Xg.111410141G>TCA414246773DCXc.258C>A (p.Asp86Glu)
c.501C>A (p.Asp167Glu)
c.476C>A
n.498C>A
Xg.111410142T>ACA414246776DCXc.257A>T (p.Asp86Val)
c.500A>T (p.Asp167Val)
c.475A>T
n.497A>T
Xg.111410142T>CCA414246775DCXc.257A>G (p.Asp86Gly)
c.500A>G (p.Asp167Gly)
c.475A>G
n.497A>G
Xg.111410142T>GCA414246774DCXc.257A>C (p.Asp86Ala)
c.500A>C (p.Asp167Ala)
c.475A>C
n.497A>C
Xg.111410143C>ACA414246777DCXc.256G>T (p.Asp86Tyr)
c.499G>T (p.Asp167Tyr)
c.474G>T
n.496G>T
Xg.111410143C>GCA414246778DCXc.256G>C (p.Asp86His)
c.499G>C (p.Asp167His)
c.474G>C
n.496G>C
Xg.111410143C>TCA414246779DCXc.256G>A (p.Asp86Asn)
c.499G>A (p.Asp167Asn)
c.474G>A
n.496G>A
 COSMIC COSMIC
Xg.111410144A>CCA518114501DCXc.255T>G (p.Ala85=)
c.498T>G (p.Ala166=)
c.473T>G
n.495T>G
Xg.111410144A>GCA518114498DCXc.255T>C (p.Ala85=)
c.498T>C (p.Ala166=)
c.473T>C
n.495T>C
Xg.111410144A>TCA518114500DCXc.255T>A (p.Ala85=)
c.498T>A (p.Ala166=)
c.473T>A
n.495T>A
Xg.111410145G>ACA414246780DCXc.254C>T (p.Ala85Val)
c.497C>T (p.Ala166Val)
c.472C>T
n.494C>T
Xg.111410145G>CCA414246781DCXc.254C>G (p.Ala85Gly)
c.497C>G (p.Ala166Gly)
c.472C>G
n.494C>G
Xg.111410145G>TCA414246782DCXc.254C>A (p.Ala85Asp)
c.497C>A (p.Ala166Asp)
c.472C>A
n.494C>A
Xg.111410146C>ACA414246783DCXc.253G>T (p.Ala85Ser)
c.496G>T (p.Ala166Ser)
c.471G>T
n.493G>T
Xg.111410146C>GCA414246784DCXc.253G>C (p.Ala85Pro)
c.496G>C (p.Ala166Pro)
c.471G>C
n.493G>C
Xg.111410146C>TCA414246785DCXc.253G>A (p.Ala85Thr)
c.496G>A (p.Ala166Thr)
c.471G>A
n.493G>A
Xg.111410147C>ACA518114504DCXc.252G>T (p.Leu84=)
c.495G>T (p.Leu165=)
c.470G>T
n.492G>T
Xg.111410147C>GCA518114505DCXc.252G>C (p.Leu84=)
c.495G>C (p.Leu165=)
c.470G>C
n.492G>C
Xg.111410147C>TCA518114506DCXc.252G>A (p.Leu84=)
c.495G>A (p.Leu165=)
c.470G>A
n.492G>A
Xg.111410148A>CCA414246786DCXc.251T>G (p.Leu84Arg)
c.494T>G (p.Leu165Arg)
c.469T>G
n.491T>G
Xg.111410148A>GCA414246787DCXc.251T>C (p.Leu84Pro)
c.494T>C (p.Leu165Pro)
c.469T>C
n.491T>C
Xg.111410148A>TCA414246788DCXc.251T>A (p.Leu84Gln)
c.494T>A (p.Leu165Gln)
c.469T>A
n.491T>A
Xg.111410149G>ACA334420942DCXc.250C>T (p.Leu84=)
c.493C>T (p.Leu165=)
c.468C>T
n.490C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.111410149G>CCA414246790DCXc.250C>G (p.Leu84Val)
c.493C>G (p.Leu165Val)
c.468C>G
n.490C>G
Xg.111410149G=CA2451700389DCXc.250C= (p.Leu84=)
c.493C= (p.Leu165=)
c.468C=
n.490C=
Xg.111410149G>TCA414246789DCXc.250C>A (p.Leu84Met)
c.493C>A (p.Leu165Met)
c.468C>A
n.490C>A
Xg.111410150C>ACA414246791DCXc.249G>T (p.Leu83Phe)
c.492G>T (p.Leu164Phe)
c.467G>T
n.489G>T
Xg.111410150C>GCA414246792DCXc.249G>C (p.Leu83Phe)
c.492G>C (p.Leu164Phe)
c.467G>C
n.489G>C
Xg.111410150C>TCA518114512DCXc.249G>A (p.Leu83=)
c.492G>A (p.Leu164=)
c.467G>A
n.489G>A
Xg.111410151A>CCA414246793DCXc.248T>G (p.Leu83Trp)
c.491T>G (p.Leu164Trp)
c.466T>G
n.488T>G
Xg.111410151A>GCA414246794DCXc.248T>C (p.Leu83Ser)
c.491T>C (p.Leu164Ser)
c.466T>C
n.488T>C
Xg.111410151A>TCA414246795DCXc.248T>A (p.Leu83Ter)
c.491T>A (p.Leu164Ter)
c.466T>A
n.488T>A
Xg.111410152A>CCA414246796DCXc.247T>G (p.Leu83Val)
c.490T>G (p.Leu164Val)
c.465T>G
n.487T>G
Xg.111410152A>GCA518114516DCXc.247T>C (p.Leu83=)
c.490T>C (p.Leu164=)
c.465T>C
n.487T>C
Xg.111410152A>TCA414246797DCXc.247T>A (p.Leu83Met)
c.490T>A (p.Leu164Met)
c.465T>A
n.487T>A
Xg.111410153G>ACA518114518DCXc.246C>T (p.Ala82=)
c.489C>T (p.Ala163=)
c.464C>T
n.486C>T
Xg.111410153G>CCA518114519DCXc.246C>G (p.Ala82=)
c.489C>G (p.Ala163=)
c.464C>G
n.486C>G
Xg.111410153G>TCA518114520DCXc.246C>A (p.Ala82=)
c.489C>A (p.Ala163=)
c.464C>A
n.486C>A
Xg.111410154G>ACA414246798DCXc.245C>T (p.Ala82Val)
c.488C>T (p.Ala163Val)
c.463C>T
n.485C>T
Xg.111410154G>CCA414246799DCXc.245C>G (p.Ala82Gly)
c.488C>G (p.Ala163Gly)
c.463C>G
n.485C>G
Xg.111410154G>TCA414246800DCXc.245C>A (p.Ala82Asp)
c.488C>A (p.Ala163Asp)
c.463C>A
n.485C>A
Xg.111410155C>ACA414246801DCXc.244G>T (p.Ala82Ser)
c.487G>T (p.Ala163Ser)
c.462G>T
n.484G>T
Xg.111410155C=CA2451700390DCXc.244G= (p.Ala82=)
c.487G= (p.Ala163=)
c.462G=
n.484G=
Xg.111410155C>GCA414246802DCXc.244G>C (p.Ala82Pro)
c.487G>C (p.Ala163Pro)
c.462G>C
n.484G>C
Xg.111410155C>TCA414246803DCXc.244G>A (p.Ala82Thr)
c.487G>A (p.Ala163Thr)
c.462G>A
n.484G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.111410156G>ACA518114523DCXc.243C>T (p.Asp81=)
c.486C>T (p.Asp162=)
c.461C>T
n.483C>T
 dbSNP gnomAD v4
Xg.111410156G>CCA414246804DCXc.243C>G (p.Asp81Glu)
c.486C>G (p.Asp162Glu)
c.461C>G
n.483C>G
Xg.111410156G=CA2451700391DCXc.243C= (p.Asp81=)
c.486C= (p.Asp162=)
c.461C=
n.483C=
Xg.111410156G>TCA414246805DCXc.243C>A (p.Asp81Glu)
c.486C>A (p.Asp162Glu)
c.461C>A
n.483C>A
Xg.111410157T>ACA414246806DCXc.242A>T (p.Asp81Val)
c.485A>T (p.Asp162Val)
c.460A>T
n.482A>T
Xg.111410157T>CCA414246808DCXc.242A>G (p.Asp81Gly)
c.485A>G (p.Asp162Gly)
c.460A>G
n.482A>G
Xg.111410157T>GCA414246807DCXc.242A>C (p.Asp81Ala)
c.485A>C (p.Asp162Ala)
c.460A>C
n.482A>C
Xg.111410158C>ACA414246809DCXc.241G>T (p.Asp81Tyr)
c.484G>T (p.Asp162Tyr)
c.459G>T
n.481G>T
Xg.111410158C=CA2451700392DCXc.241G= (p.Asp81=)
c.484G= (p.Asp162=)
c.459G=
n.481G=
Xg.111410158C>GCA414246810DCXc.241G>C (p.Asp81His)
c.484G>C (p.Asp162His)
c.459G>C
n.481G>C
 dbSNP
Xg.111410158C>TCA414246811DCXc.241G>A (p.Asp81Asn)
c.484G>A (p.Asp162Asn)
c.459G>A
n.481G>A
Xg.111410159A>CCA414246812DCXc.240T>G (p.Phe80Leu)
c.483T>G (p.Phe161Leu)
c.458T>G
n.480T>G
Xg.111410159A>GCA518114529DCXc.240T>C (p.Phe80=)
c.483T>C (p.Phe161=)
c.458T>C
n.480T>C
Xg.111410159A>TCA414246813DCXc.240T>A (p.Phe80Leu)
c.483T>A (p.Phe161Leu)
c.458T>A
n.480T>A
Xg.111410161dupCA2573055070DCXc.240dup (p.Asp81Ter)
c.483dup (p.Asp162Ter)
c.458dup
n.480dup
 ClinVar dbSNP
Xg.111410160A>CCA414246814DCXc.239T>G (p.Phe80Cys)
c.482T>G (p.Phe161Cys)
c.457T>G
n.479T>G
Xg.111410160A>GCA414246815DCXc.239T>C (p.Phe80Ser)
c.482T>C (p.Phe161Ser)
c.457T>C
n.479T>C
Xg.111410160A>TCA414246816DCXc.239T>A (p.Phe80Tyr)
c.482T>A (p.Phe161Tyr)
c.457T>A
n.479T>A
Xg.111410161A>CCA414246817DCXc.238T>G (p.Phe80Val)
c.481T>G (p.Phe161Val)
c.456T>G
n.478T>G
Xg.111410161A>GCA414246818DCXc.238T>C (p.Phe80Leu)
c.481T>C (p.Phe161Leu)
c.456T>C
n.478T>C
Xg.111410161A>TCA414246819DCXc.238T>A (p.Phe80Ile)
c.481T>A (p.Phe161Ile)
c.456T>A
n.478T>A
Xg.111410162G>ACA518114532DCXc.237C>T (p.Ser79=)
c.480C>T (p.Ser160=)
c.455C>T
n.477C>T
Xg.111410162G>CCA414246820DCXc.237C>G (p.Ser79Arg)
c.480C>G (p.Ser160Arg)
c.455C>G
n.477C>G
Xg.111410162G>TCA414246821DCXc.237C>A (p.Ser79Arg)
c.480C>A (p.Ser160Arg)
c.455C>A
n.477C>A
Xg.111410163C>ACA414246822DCXc.236G>T (p.Ser79Ile)
c.479G>T (p.Ser160Ile)
c.454G>T
n.476G>T
Xg.111410163C>GCA414246823DCXc.236G>C (p.Ser79Thr)
c.479G>C (p.Ser160Thr)
c.454G>C
n.476G>C
Xg.111410163C>TCA414246824DCXc.236G>A (p.Ser79Asn)
c.479G>A (p.Ser160Asn)
c.454G>A
n.476G>A
 COSMIC
Xg.111410164T>ACA414246825DCXc.235A>T (p.Ser79Cys)
c.478A>T (p.Ser160Cys)
c.453A>T
n.475A>T
Xg.111410164T>CCA414246826DCXc.235A>G (p.Ser79Gly)
c.478A>G (p.Ser160Gly)
c.453A>G
n.475A>G
Xg.111410164T>GCA414246827DCXc.235A>C (p.Ser79Arg)
c.478A>C (p.Ser160Arg)
c.453A>C
n.475A>C
Xg.111410164_111410173delinsTGCGAAAACGCA2451700393DCXc.226_235delinsCGTTTTCGCA (p.Arg76=)
c.469_478delinsCGTTTTCGCA (p.Arg157=)
c.444_453delinsCGTTTTCGCA
n.466_475delinsCGTTTTCGCA
Xg.111410165G>ACA518114536DCXc.234C>T (p.Arg78=)
c.477C>T (p.Arg159=)
c.452C>T
n.474C>T
Xg.111410165G>CCA518114537DCXc.234C>G (p.Arg78=)
c.477C>G (p.Arg159=)
c.452C>G
n.474C>G
Xg.111410165G>TCA518114538DCXc.234C>A (p.Arg78=)
c.477C>A (p.Arg159=)
c.452C>A
n.474C>A
Xg.111410166C>ACA171896DCXc.233G>T (p.Arg78Leu)
c.476G>T (p.Arg159Leu)
c.451G>T
n.473G>T
 ClinVar dbSNP
Xg.111410166C=CA2451700394DCXc.233G= (p.Arg78=)
c.476G= (p.Arg159=)
c.451G=
n.473G=
Xg.111410166C>GCA414246828DCXc.233G>C (p.Arg78Pro)
c.476G>C (p.Arg159Pro)
c.451G>C
n.473G>C
Xg.111410166C>TCA121602DCXc.233G>A (p.Arg78His)
c.476G>A (p.Arg159His)
c.451G>A
n.473G>A
 ClinVar dbSNP COSMIC COSMIC
Xg.111410167G>ACA171893DCXc.232C>T (p.Arg78Cys)
c.475C>T (p.Arg159Cys)
c.450C>T
n.472C>T
 ClinVar dbSNP COSMIC COSMIC
Xg.111410167G>CCA414246829DCXc.232C>G (p.Arg78Gly)
c.475C>G (p.Arg159Gly)
c.450C>G
n.472C>G
Xg.111410167G=CA2451700395DCXc.232C= (p.Arg78=)
c.475C= (p.Arg159=)
c.450C=
n.472C=
Xg.111410167G>TCA414246830DCXc.232C>A (p.Arg78Ser)
c.475C>A (p.Arg159Ser)
c.450C>A
n.472C>A
Xg.111410168A=CA2451700396DCXc.231T= (p.Phe77=)
c.474T= (p.Phe158=)
c.449T=
n.471T=
Xg.111410168A>CCA414246831DCXc.231T>G (p.Phe77Leu)
c.474T>G (p.Phe158Leu)
c.449T>G
n.471T>G
Xg.111410168A>GCA334420943DCXc.231T>C (p.Phe77=)
c.474T>C (p.Phe158=)
c.449T>C
n.471T>C
 dbSNP
Xg.111410168A>TCA414246832DCXc.231T>A (p.Phe77Leu)
c.474T>A (p.Phe158Leu)
c.449T>A
n.471T>A
Xg.111410169A>CCA414246833DCXc.230T>G (p.Phe77Cys)
c.473T>G (p.Phe158Cys)
c.448T>G
n.470T>G
Xg.111410169A>GCA414246835DCXc.230T>C (p.Phe77Ser)
c.473T>C (p.Phe158Ser)
c.448T>C
n.470T>C
Xg.111410169A>TCA414246834DCXc.230T>A (p.Phe77Tyr)
c.473T>A (p.Phe158Tyr)
c.448T>A
n.470T>A
Xg.111410170A>CCA414246836DCXc.229T>G (p.Phe77Val)
c.472T>G (p.Phe158Val)
c.447T>G
n.469T>G
Xg.111410170A>GCA414246837DCXc.229T>C (p.Phe77Leu)
c.472T>C (p.Phe158Leu)
c.447T>C
n.469T>C
Xg.111410170A>TCA414246838DCXc.229T>A (p.Phe77Ile)
c.472T>A (p.Phe158Ile)
c.447T>A
n.469T>A
Xg.111410171A>CCA518114549DCXc.228T>G (p.Arg76=)
c.471T>G (p.Arg157=)
c.446T>G
n.468T>G
Xg.111410171A>GCA518114550DCXc.228T>C (p.Arg76=)
c.471T>C (p.Arg157=)
c.446T>C
n.468T>C
Xg.111410171A>TCA518114548DCXc.228T>A (p.Arg76=)
c.471T>A (p.Arg157=)
c.446T>A
n.468T>A
Xg.111410172C>ACA414246839DCXc.227G>T (p.Arg76Leu)
c.470G>T (p.Arg157Leu)
c.445G>T
n.467G>T
Xg.111410172C>GCA414246840DCXc.227G>C (p.Arg76Pro)
c.470G>C (p.Arg157Pro)
c.445G>C
n.467G>C
Xg.111410172C>TCA414246841DCXc.227G>A (p.Arg76His)
c.470G>A (p.Arg157His)
c.445G>A
n.467G>A
Xg.111410173G>ACA171890DCXc.226C>T (p.Arg76Cys)
c.469C>T (p.Arg157Cys)
c.444C>T
n.466C>T
 ClinVar dbSNP
Xg.111410173G>CCA414246842DCXc.226C>G (p.Arg76Gly)
c.469C>G (p.Arg157Gly)
c.444C>G
n.466C>G
 ClinVar dbSNP
Xg.111410173G=CA2451700397DCXc.226C= (p.Arg76=)
c.469C= (p.Arg157=)
c.444C=
n.466C=
Xg.111410173G>TCA414246843DCXc.226C>A (p.Arg76Ser)
c.469C>A (p.Arg157Ser)
c.444C>A
n.466C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.111410174G>ACA518114553DCXc.225C>T (p.Asp75=)
c.468C>T (p.Asp156=)
c.443C>T
n.465C>T
Xg.111410174G>CCA414246844DCXc.225C>G (p.Asp75Glu)
c.468C>G (p.Asp156Glu)
c.443C>G
n.465C>G
Xg.111410174G>TCA414246845DCXc.225C>A (p.Asp75Glu)
c.468C>A (p.Asp156Glu)
c.443C>A
n.465C>A
Xg.111410175T>ACA414246847DCXc.224A>T (p.Asp75Val)
c.467A>T (p.Asp156Val)
c.442A>T
n.464A>T
Xg.111410175T>CCA414246848DCXc.224A>G (p.Asp75Gly)
c.467A>G (p.Asp156Gly)
c.442A>G
n.464A>G
Xg.111410175T>GCA414246846DCXc.224A>C (p.Asp75Ala)
c.467A>C (p.Asp156Ala)
c.442A>C
n.464A>C
Xg.111410176C>ACA414246850DCXc.223G>T (p.Asp75Tyr)
c.466G>T (p.Asp156Tyr)
c.441G>T
n.463G>T
Xg.111410176C>GCA414246849DCXc.223G>C (p.Asp75His)
c.466G>C (p.Asp156His)
c.441G>C
n.463G>C
Xg.111410176C>TCA414246851DCXc.223G>A (p.Asp75Asn)
c.466G>A (p.Asp156Asn)
c.441G>A
n.463G>A
 COSMIC COSMIC
Xg.111410177A>CCA518114561DCXc.222T>G (p.Ser74=)
c.465T>G (p.Ser155=)
c.440T>G
n.462T>G
Xg.111410177A>GCA518114562DCXc.222T>C (p.Ser74=)
c.465T>C (p.Ser155=)
c.440T>C
n.462T>C
Xg.111410177A>TCA518114563DCXc.222T>A (p.Ser74=)
c.465T>A (p.Ser155=)
c.440T>A
n.462T>A
Xg.111410178G>ACA414246852DCXc.221C>T (p.Ser74Phe)
c.464C>T (p.Ser155Phe)
c.439C>T
n.461C>T
Xg.111410178G>CCA414246853DCXc.221C>G (p.Ser74Cys)
c.464C>G (p.Ser155Cys)
c.439C>G
n.461C>G
Xg.111410178G>TCA414246854DCXc.221C>A (p.Ser74Tyr)
c.464C>A (p.Ser155Tyr)
c.439C>A
n.461C>A
Xg.111410179A>CCA414246855DCXc.220T>G (p.Ser74Ala)
c.463T>G (p.Ser155Ala)
c.438T>G
n.460T>G
Xg.111410179A>GCA414246856DCXc.220T>C (p.Ser74Pro)
c.463T>C (p.Ser155Pro)
c.438T>C
n.460T>C
Xg.111410179A>TCA414246857DCXc.220T>A (p.Ser74Thr)
c.463T>A (p.Ser155Thr)
c.438T>A
n.460T>A
Xg.111410180G>ACA518114568DCXc.219C>T (p.Ser73=)
c.462C>T (p.Ser154=)
c.437C>T
n.459C>T
Xg.111410180G>CCA518114571DCXc.219C>G (p.Ser73=)
c.462C>G (p.Ser154=)
c.437C>G
n.459C>G
Xg.111410180G>TCA518114572DCXc.219C>A (p.Ser73=)
c.462C>A (p.Ser154=)
c.437C>A
n.459C>A
Xg.111410181G>ACA171887DCXc.218C>T (p.Ser73Phe)
c.461C>T (p.Ser154Phe)
c.436C>T
n.458C>T
 ClinVar dbSNP
Xg.111410181G>CCA414246858DCXc.218C>G (p.Ser73Cys)
c.461C>G (p.Ser154Cys)
c.436C>G
n.458C>G
Xg.111410181G=CA2451700398DCXc.218C= (p.Ser73=)
c.461C= (p.Ser154=)
c.436C=
n.458C=
Xg.111410181G>TCA414246859DCXc.218C>A (p.Ser73Tyr)
c.461C>A (p.Ser154Tyr)
c.436C>A
n.458C>A
Xg.111410182A>CCA414246860DCXc.217T>G (p.Ser73Ala)
c.460T>G (p.Ser154Ala)
c.435T>G
n.457T>G
Xg.111410182A>GCA414246861DCXc.217T>C (p.Ser73Pro)
c.460T>C (p.Ser154Pro)
c.435T>C
n.457T>C
Xg.111410182A>TCA414246862DCXc.217T>A (p.Ser73Thr)
c.460T>A (p.Ser154Thr)
c.435T>A
n.457T>A
Xg.111410183C>ACA518114573DCXc.216G>T (p.Val72=)
c.459G>T (p.Val153=)
c.434G>T
n.456G>T
Xg.111410183C>GCA518114574DCXc.216G>C (p.Val72=)
c.459G>C (p.Val153=)
c.434G>C
n.456G>C
Xg.111410183C>TCA518114576DCXc.216G>A (p.Val72=)
c.459G>A (p.Val153=)
c.434G>A
n.456G>A
Xg.111410184A>CCA414246865DCXc.215T>G (p.Val72Gly)
c.458T>G (p.Val153Gly)
c.433T>G
n.455T>G
Xg.111410184A>GCA414246863DCXc.215T>C (p.Val72Ala)
c.458T>C (p.Val153Ala)
c.433T>C
n.455T>C
Xg.111410184A>TCA414246864DCXc.215T>A (p.Val72Glu)
c.458T>A (p.Val153Glu)
c.433T>A
n.455T>A
Xg.111410185C>ACA414246866DCXc.214G>T (p.Val72Leu)
c.457G>T (p.Val153Leu)
c.432G>T
n.454G>T
Xg.111410185C>GCA414246867DCXc.214G>C (p.Val72Leu)
c.457G>C (p.Val153Leu)
c.432G>C
n.454G>C
Xg.111410185C>TCA414246868DCXc.214G>A (p.Val72Met)
c.457G>A (p.Val153Met)
c.432G>A
n.454G>A
Xg.111410186A>CCA518114578DCXc.213T>G (p.Ala71=)
c.456T>G (p.Ala152=)
c.431T>G
n.453T>G
Xg.111410186A>GCA518114579DCXc.213T>C (p.Ala71=)
c.456T>C (p.Ala152=)
c.431T>C
n.453T>C
 gnomAD v4
Xg.111410186A>TCA518114580DCXc.213T>A (p.Ala71=)
c.456T>A (p.Ala152=)
c.431T>A
n.453T>A
Xg.111410187G>ACA414246869DCXc.212C>T (p.Ala71Val)
c.455C>T (p.Ala152Val)
c.430C>T
n.452C>T
 COSMIC
Xg.111410187G>CCA414246870DCXc.212C>G (p.Ala71Gly)
c.455C>G (p.Ala152Gly)
c.430C>G
n.452C>G
Xg.111410187G>TCA414246871DCXc.212C>A (p.Ala71Asp)
c.455C>A (p.Ala152Asp)
c.430C>A
n.452C>A
 dbSNP
Xg.111410188C>ACA121609DCXc.211G>T (p.Ala71Ser)
c.454G>T (p.Ala152Ser)
c.429G>T
n.451G>T
 ClinVar dbSNP
Xg.111410188C=CA2451700399DCXc.211G= (p.Ala71=)
c.454G= (p.Ala152=)
c.429G=
n.451G=
Xg.111410188C>GCA414246872DCXc.211G>C (p.Ala71Pro)
c.454G>C (p.Ala152Pro)
c.429G>C
n.451G>C
 COSMIC
Xg.111410188C>TCA414246873DCXc.211G>A (p.Ala71Thr)
c.454G>A (p.Ala152Thr)
c.429G>A
n.451G>A
 ClinVar dbSNP
Xg.111410189G>ACA518114585DCXc.210C>T (p.Tyr70=)
c.453C>T (p.Tyr151=)
c.428C>T
n.450C>T
 gnomAD v4 COSMIC COSMIC
Xg.111410189G>CCA414246874DCXc.210C>G (p.Tyr70Ter)
c.453C>G (p.Tyr151Ter)
c.428C>G
n.450C>G
Xg.111410189G=CA2451700400DCXc.210C= (p.Tyr70=)
c.453C= (p.Tyr151=)
c.428C=
n.450C=
Xg.111410189G>TCA171884DCXc.210C>A (p.Tyr70Ter)
c.453C>A (p.Tyr151Ter)
c.428C>A
n.450C>A
 ClinVar dbSNP COSMIC COSMIC
Xg.111410190T>ACA414246877DCXc.209A>T (p.Tyr70Phe)
c.452A>T (p.Tyr151Phe)
c.427A>T
n.449A>T
Xg.111410190T>CCA414246876DCXc.209A>G (p.Tyr70Cys)
c.452A>G (p.Tyr151Cys)
c.427A>G
n.449A>G
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.111410190T>GCA414246875DCXc.209A>C (p.Tyr70Ser)
c.452A>C (p.Tyr151Ser)
c.427A>C
n.449A>C
Xg.111410191A>CCA414246878DCXc.208T>G (p.Tyr70Asp)
c.451T>G (p.Tyr151Asp)
c.426T>G
n.448T>G
Xg.111410191A>GCA414246879DCXc.208T>C (p.Tyr70His)
c.451T>C (p.Tyr151His)
c.426T>C
n.448T>C
 gnomAD v4
Xg.111410191A>TCA414246880DCXc.208T>A (p.Tyr70Asn)
c.451T>A (p.Tyr151Asn)
c.426T>A
n.448T>A
Xg.111410192C>ACA518114588DCXc.207G>T (p.Val69=)
c.450G>T (p.Val150=)
c.425G>T
n.447G>T
 dbSNP
Xg.111410192C>GCA518114590DCXc.207G>C (p.Val69=)
c.450G>C (p.Val150=)
c.425G>C
n.447G>C
Xg.111410192C>TCA518114591DCXc.207G>A (p.Val69=)
c.450G>A (p.Val150=)
c.425G>A
n.447G>A
Xg.111410193A>CCA414246881DCXc.206T>G (p.Val69Gly)
c.449T>G (p.Val150Gly)
c.424T>G
n.446T>G
Xg.111410193A>GCA414246882DCXc.206T>C (p.Val69Ala)
c.449T>C (p.Val150Ala)
c.424T>C
n.446T>C
Xg.111410193A>TCA414246883DCXc.206T>A (p.Val69Glu)
c.449T>A (p.Val150Glu)
c.424T>A
n.446T>A
Xg.111410194C>ACA414246884DCXc.205G>T (p.Val69Leu)
c.448G>T (p.Val150Leu)
c.423G>T
n.445G>T
Xg.111410194C>GCA414246885DCXc.205G>C (p.Val69Leu)
c.448G>C (p.Val150Leu)
c.423G>C
n.445G>C
Xg.111410194C>TCA414246886DCXc.205G>A (p.Val69Met)
c.448G>A (p.Val150Met)
c.423G>A
n.445G>A
 COSMIC COSMIC

Number of alleles fetched