Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496552delCA2580091033TBC1D24c.404del (p.Pro135ArgfsTer?)
n.586del
ClinVar
16g.2496552C>ACA394375854TBC1D24c.404C>A (p.Pro135Gln)
n.586C>A
16g.2496552C=CA2202259860TBC1D24c.404C= (p.Pro135=)
n.586C=
16g.2496552C>GCA394375856TBC1D24c.404C>G (p.Pro135Arg)
n.586C>G
16g.2496552C>TCA16044430TBC1D24c.404C>T (p.Pro135Leu)
n.586C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496553G>ACA7843993TBC1D24c.405G>A (p.Pro135=)
n.587G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496553G>CCA493366653TBC1D24c.405G>C (p.Pro135=)
n.587G>C
16g.2496553G=CA2202259861TBC1D24c.405G= (p.Pro135=)
n.587G=
16g.2496553G>TCA493366654TBC1D24c.405G>T (p.Pro135=)
n.587G>T
gnomAD v4
16g.2496554G>ACA394375862TBC1D24c.406G>A (p.Ala136Thr)
n.588G>A
16g.2496554G>CCA394375863TBC1D24c.406G>C (p.Ala136Pro)
n.588G>C
16g.2496554G=CA2202259862TBC1D24c.406G= (p.Ala136=)
n.588G=
16g.2496554G>TCA394375865TBC1D24c.406G>T (p.Ala136Ser)
n.588G>T
dbSNP gnomAD v4
16g.2496555C>ACA394375868TBC1D24c.407C>A (p.Ala136Asp)
n.589C>A
16g.2496555C>GCA394375870TBC1D24c.407C>G (p.Ala136Gly)
n.589C>G
16g.2496555C>TCA394375872TBC1D24c.407C>T (p.Ala136Val)
n.589C>T
16g.2496556C>ACA493366656TBC1D24c.408C>A (p.Ala136=)
n.590C>A
16g.2496556C=CA2202259863TBC1D24c.408C= (p.Ala136=)
n.590C=
16g.2496556C>GCA493366657TBC1D24c.408C>G (p.Ala136=)
n.590C>G
gnomAD v4
16g.2496556C>TCA7843994TBC1D24c.408C>T (p.Ala136=)
n.590C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496557G>ACA7843995TBC1D24c.409G>A (p.Val137Met)
n.591G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496557G>CCA394375878TBC1D24c.409G>C (p.Val137Leu)
n.591G>C
16g.2496557G=CA2202259864TBC1D24c.409G= (p.Val137=)
n.591G=
16g.2496557G>TCA394375876TBC1D24c.409G>T (p.Val137Leu)
n.591G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496558T>ACA394375886TBC1D24c.410T>A (p.Val137Glu)
n.592T>A
16g.2496558T>CCA394375882TBC1D24c.410T>C (p.Val137Ala)
n.592T>C
16g.2496558T>GCA394375884TBC1D24c.410T>G (p.Val137Gly)
n.592T>G
16g.2496559G>ACA493366658TBC1D24c.411G>A (p.Val137=)
n.593G>A
16g.2496559G>CCA493366659TBC1D24c.411G>C (p.Val137=)
n.593G>C
16g.2496559G>TCA493366660TBC1D24c.411G>T (p.Val137=)
n.593G>T
gnomAD v4
16g.2496560G>ACA394375887TBC1D24c.412G>A (p.Val138Met)
n.594G>A
dbSNP gnomAD v2
16g.2496560G>CCA394375889TBC1D24c.412G>C (p.Val138Leu)
n.594G>C
gnomAD v4
16g.2496560G=CA2202259865TBC1D24c.412G= (p.Val138=)
n.594G=
16g.2496560G>TCA394375892TBC1D24c.412G>T (p.Val138Leu)
n.594G>T
16g.2496561T>ACA394375895TBC1D24c.413T>A (p.Val138Glu)
n.595T>A
16g.2496561T>CCA394375897TBC1D24c.413T>C (p.Val138Ala)
n.595T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496561T>GCA394375898TBC1D24c.413T>G (p.Val138Gly)
n.595T>G
16g.2496561T=CA2202259866TBC1D24c.413T= (p.Val138=)
n.595T=
16g.2496562G>ACA276809624TBC1D24c.414G>A (p.Val138=)
n.596G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496562G>CCA493366665TBC1D24c.414G>C (p.Val138=)
n.596G>C
16g.2496562G=CA2202259867TBC1D24c.414G= (p.Val138=)
n.596G=
16g.2496562G>TCA493366666TBC1D24c.414G>T (p.Val138=)
n.596G>T
gnomAD v4
16g.2496563G>ACA7843996TBC1D24c.415G>A (p.Ala139Thr)
n.597G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496563G>CCA394375902TBC1D24c.415G>C (p.Ala139Pro)
n.597G>C
16g.2496563G=CA2202259868TBC1D24c.415G= (p.Ala139=)
n.597G=
16g.2496563G>TCA394375904TBC1D24c.415G>T (p.Ala139Ser)
n.597G>T
dbSNP gnomAD v3 gnomAD v4
16g.2496564C>ACA394375906TBC1D24c.416C>A (p.Ala139Asp)
n.598C>A
dbSNP gnomAD v3 gnomAD v4
16g.2496564C=CA2202259869TBC1D24c.416C= (p.Ala139=)
n.598C=
16g.2496564C>GCA394375908TBC1D24c.416C>G (p.Ala139Gly)
n.598C>G
16g.2496564C>TCA394375910TBC1D24c.416C>T (p.Ala139Val)
n.598C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496566delCA2631209895TBC1D24c.418del (p.Leu140CysfsTer29)
n.600del
gnomAD v4
16g.2496565C>ACA493366670TBC1D24c.417C>A (p.Ala139=)
n.599C>A
ClinVar
16g.2496565C=CA2202259870TBC1D24c.417C= (p.Ala139=)
n.599C=
16g.2496565C>GCA493366668TBC1D24c.417C>G (p.Ala139=)
n.599C>G
16g.2496565C>TCA493366669TBC1D24c.417C>T (p.Ala139=)
n.599C>T
dbSNP
16g.2496566C>ACA394375912TBC1D24c.418C>A (p.Leu140Met)
n.600C>A
16g.2496566C=CA2202259871TBC1D24c.418C= (p.Leu140=)
n.600C=
16g.2496566C>GCA394375913TBC1D24c.418C>G (p.Leu140Val)
n.600C>G
ClinVar dbSNP gnomAD v4
16g.2496566C>TCA493366671TBC1D24c.418C>T (p.Leu140=)
n.600C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496567T>ACA394375917TBC1D24c.419T>A (p.Leu140Gln)
n.601T>A
16g.2496567T>CCA394375918TBC1D24c.419T>C (p.Leu140Pro)
n.601T>C
16g.2496567T>GCA394375920TBC1D24c.419T>G (p.Leu140Arg)
n.601T>G
16g.2496568G>ACA493366674TBC1D24c.420G>A (p.Leu140=)
n.602G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496568G>CCA493366675TBC1D24c.420G>C (p.Leu140=)
n.602G>C
16g.2496568G=CA2202259872TBC1D24c.420G= (p.Leu140=)
n.602G=
16g.2496568G>TCA493366676TBC1D24c.420G>T (p.Leu140=)
n.602G>T
gnomAD v4
16g.2496569C>ACA7843997TBC1D24c.421C>A (p.Leu141Met)
n.603C>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496569C=CA2202259873TBC1D24c.421C= (p.Leu141=)
n.603C=
16g.2496569C>GCA394375924TBC1D24c.421C>G (p.Leu141Val)
n.603C>G
16g.2496569C>TCA493366678TBC1D24c.421C>T (p.Leu141=)
n.603C>T
gnomAD v4
16g.2496570T>ACA394375926TBC1D24c.422T>A (p.Leu141Gln)
n.604T>A
16g.2496570T>CCA276809625TBC1D24c.422T>C (p.Leu141Pro)
n.604T>C
dbSNP
16g.2496570T>GCA394375929TBC1D24c.422T>G (p.Leu141Arg)
n.604T>G
16g.2496570T=CA2202259874TBC1D24c.422T= (p.Leu141=)
n.604T=
16g.2496571G>ACA493366680TBC1D24c.423G>A (p.Leu141=)
n.605G>A
gnomAD v4
16g.2496571G>CCA493366682TBC1D24c.423G>C (p.Leu141=)
n.605G>C
16g.2496571G>TCA493366683TBC1D24c.423G>T (p.Leu141=)
n.605G>T
16g.2496572C>ACA394375931TBC1D24c.424C>A (p.Leu142Met)
n.606C>A
16g.2496572C=CA2202259875TBC1D24c.424C= (p.Leu142=)
n.606C=
16g.2496572C>GCA394375933TBC1D24c.424C>G (p.Leu142Val)
n.606C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496572C>TCA493366684TBC1D24c.424C>T (p.Leu142=)
n.606C>T
16g.2496573T>ACA394375937TBC1D24c.425T>A (p.Leu142Gln)
n.607T>A
16g.2496573T>CCA394375938TBC1D24c.425T>C (p.Leu142Pro)
n.607T>C
gnomAD v4 COSMIC
16g.2496573T>GCA394375941TBC1D24c.425T>G (p.Leu142Arg)
n.607T>G
gnomAD v4
16g.2496574G>ACA493366688TBC1D24c.426G>A (p.Leu142=)
n.608G>A
gnomAD v4
16g.2496574G>CCA493366689TBC1D24c.426G>C (p.Leu142=)
n.608G>C
16g.2496574G>TCA493366690TBC1D24c.426G>T (p.Leu142=)
n.608G>T
16g.2496575C>ACA394375946TBC1D24c.427C>A (p.His143Asn)
n.609C>A
gnomAD v4
16g.2496575C=CA2202259876TBC1D24c.427C= (p.His143=)
n.609C=
16g.2496575C>GCA394375947TBC1D24c.427C>G (p.His143Asp)
n.609C>G
16g.2496575C>TCA394375943TBC1D24c.427C>T (p.His143Tyr)
n.609C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496576A>CCA394375950TBC1D24c.428A>C (p.His143Pro)
n.610A>C
gnomAD v4
16g.2496576A>GCA394375954TBC1D24c.428A>G (p.His143Arg)
n.610A>G
16g.2496576A>TCA394375952TBC1D24c.428A>T (p.His143Leu)
n.610A>T
16g.2496577delCA2695222783TBC1D24c.429del (p.Tyr144ThrfsTer25)
n.611del
dbSNP
16g.2496577C>ACA394375957TBC1D24c.429C>A (p.His143Gln)
n.611C>A
16g.2496577C>GCA394375959TBC1D24c.429C>G (p.His143Gln)
n.611C>G
gnomAD v4
16g.2496577C>TCA493366692TBC1D24c.429C>T (p.His143=)
n.611C>T
16g.2496578T>ACA394375962TBC1D24c.430T>A (p.Tyr144Asn)
n.612T>A
dbSNP gnomAD v4
16g.2496578T>CCA7843998TBC1D24c.430T>C (p.Tyr144His)
n.612T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496578T>GCA394375965TBC1D24c.430T>G (p.Tyr144Asp)
n.612T>G
16g.2496578T=CA2202259877TBC1D24c.430T= (p.Tyr144=)
n.612T=
16g.2496579A=CA2202259878TBC1D24c.431A= (p.Tyr144=)
n.613A=
16g.2496579A>CCA394375968TBC1D24c.431A>C (p.Tyr144Ser)
n.613A>C
16g.2496579A>GCA394375970TBC1D24c.431A>G (p.Tyr144Cys)
n.613A>G
ClinVar dbSNP
16g.2496579A>TCA394375972TBC1D24c.431A>T (p.Tyr144Phe)
n.613A>T
16g.2496580C>ACA394375973TBC1D24c.432C>A (p.Tyr144Ter)
n.614C>A
16g.2496580C=CA2202259879TBC1D24c.432C= (p.Tyr144=)
n.614C=
16g.2496580C>GCA394375975TBC1D24c.432C>G (p.Tyr144Ter)
n.614C>G
16g.2496580C>TCA493366694TBC1D24c.432C>T (p.Tyr144=)
n.614C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496580_2496581insGAGGCCGAGCA2575883947TBC1D24c.432_433insGAGGCCGAG (p.Tyr144_Ser145insGluAlaGlu)
n.614_615insGAGGCCGAG
16g.2496581A>CCA394375977TBC1D24c.433A>C (p.Ser145Arg)
n.615A>C
16g.2496581A>GCA394375978TBC1D24c.433A>G (p.Ser145Gly)
n.615A>G
16g.2496581A>TCA394375980TBC1D24c.433A>T (p.Ser145Cys)
n.615A>T
16g.2496582G>ACA394375983TBC1D24c.434G>A (p.Ser145Asn)
n.616G>A
ClinVar dbSNP gnomAD v4
16g.2496582G>CCA394375986TBC1D24c.434G>C (p.Ser145Thr)
n.616G>C
16g.2496582G>TCA394375984TBC1D24c.434G>T (p.Ser145Ile)
n.616G>T
gnomAD v4
16g.2496583C>ACA394375987TBC1D24c.435C>A (p.Ser145Arg)
n.617C>A
16g.2496583C>GCA394375989TBC1D24c.435C>G (p.Ser145Arg)
n.617C>G
16g.2496583C>TCA493366699TBC1D24c.435C>T (p.Ser145=)
n.617C>T
gnomAD v4
16g.2496584A=CA2202259880TBC1D24c.436A= (p.Ile146=)
n.618A=
16g.2496584A>CCA394375991TBC1D24c.436A>C (p.Ile146Leu)
n.618A>C
16g.2496584A>GCA394375992TBC1D24c.436A>G (p.Ile146Val)
n.618A>G
dbSNP gnomAD v3 gnomAD v4
16g.2496584A>TCA394375994TBC1D24c.436A>T (p.Ile146Phe)
n.618A>T
16g.2496585T>ACA394375995TBC1D24c.437T>A (p.Ile146Asn)
n.619T>A
16g.2496585T>CCA394375997TBC1D24c.437T>C (p.Ile146Thr)
n.619T>C
16g.2496585T>GCA394375998TBC1D24c.437T>G (p.Ile146Ser)
n.619T>G
16g.2496589_2496606delCA2631209959TBC1D24c.441_458del (p.Asp147_Phe152del)
n.623_640del
gnomAD v4
16g.2496586C>ACA493366702TBC1D24c.438C>A (p.Ile146=)
n.620C>A
gnomAD v4
16g.2496586C=CA2202259881TBC1D24c.438C= (p.Ile146=)
n.620C=
16g.2496586C>GCA394376000TBC1D24c.438C>G (p.Ile146Met)
n.620C>G
16g.2496586C>TCA7843999TBC1D24c.438C>T (p.Ile146=)
n.620C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496587G>ACA7844000TBC1D24c.439G>A (p.Asp147Asn)
n.621G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496587G>CCA339785TBC1D24c.439G>C (p.Asp147His)
n.621G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496587G=CA2202259882TBC1D24c.439G= (p.Asp147=)
n.621G=
16g.2496587G>TCA394376002TBC1D24c.439G>T (p.Asp147Tyr)
n.621G>T
gnomAD v4
16g.2496588A=CA2202259883TBC1D24c.440A= (p.Asp147=)
n.622A=
16g.2496588A>CCA394376007TBC1D24c.440A>C (p.Asp147Ala)
n.622A>C
16g.2496588A>GCA7844001TBC1D24c.440A>G (p.Asp147Gly)
n.622A>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496588A>TCA394376010TBC1D24c.440A>T (p.Asp147Val)
n.622A>T
16g.2496589C>ACA394376012TBC1D24c.441C>A (p.Asp147Glu)
n.623C>A
16g.2496589C=CA2202259884TBC1D24c.441C= (p.Asp147=)
n.623C=
16g.2496589C>GCA394376014TBC1D24c.441C>G (p.Asp147Glu)
n.623C>G
dbSNP gnomAD v4
16g.2496589C>TCA302805TBC1D24c.441C>T (p.Asp147=)
n.623C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496590G>ACA7844002TBC1D24c.442G>A (p.Glu148Lys)
n.624G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496590G>CCA394376018TBC1D24c.442G>C (p.Glu148Gln)
n.624G>C
16g.2496590G=CA2202259885TBC1D24c.442G= (p.Glu148=)
n.624G=
16g.2496590G>TCA7844003TBC1D24c.442G>T (p.Glu148Ter)
n.624G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496591A>CCA394376020TBC1D24c.443A>C (p.Glu148Ala)
n.625A>C
16g.2496591A>GCA394376023TBC1D24c.443A>G (p.Glu148Gly)
n.625A>G
16g.2496591A>TCA394376025TBC1D24c.443A>T (p.Glu148Val)
n.625A>T
16g.2496592G>ACA7844004TBC1D24c.444G>A (p.Glu148=)
n.626G>A
dbSNP ExAC gnomAD v2
16g.2496592G>CCA394376028TBC1D24c.444G>C (p.Glu148Asp)
n.626G>C
16g.2496592G=CA2202259886TBC1D24c.444G= (p.Glu148=)
n.626G=
16g.2496592G>TCA394376026TBC1D24c.444G>T (p.Glu148Asp)
n.626G>T
16g.2496593G>ACA394376031TBC1D24c.445G>A (p.Ala149Thr)
n.627G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496593G>CCA394376033TBC1D24c.445G>C (p.Ala149Pro)
n.627G>C
16g.2496593G=CA2202259887TBC1D24c.445G= (p.Ala149=)
n.627G=
16g.2496593G>TCA394376035TBC1D24c.445G>T (p.Ala149Ser)
n.627G>T
gnomAD v4
16g.2496594C>ACA394376036TBC1D24c.446C>A (p.Ala149Asp)
n.628C>A
dbSNP gnomAD v4
16g.2496594C=CA2202259888TBC1D24c.446C= (p.Ala149=)
n.628C=
16g.2496594C>GCA394376038TBC1D24c.446C>G (p.Ala149Gly)
n.628C>G
16g.2496594C>TCA394376039TBC1D24c.446C>T (p.Ala149Val)
n.628C>T
ClinVar dbSNP
16g.2496595C>ACA493366708TBC1D24c.447C>A (p.Ala149=)
n.629C>A
dbSNP
16g.2496595C=CA2202259889TBC1D24c.447C= (p.Ala149=)
n.629C=
16g.2496595C>GCA493366711TBC1D24c.447C>G (p.Ala149=)
n.629C>G
16g.2496595C>TCA7844005TBC1D24c.447C>T (p.Ala149=)
n.629C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496596G>ACA7844006TBC1D24c.448G>A (p.Glu150Lys)
n.630G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496596G>CCA394376043TBC1D24c.448G>C (p.Glu150Gln)
n.630G>C
gnomAD v4
16g.2496596G=CA2202259890TBC1D24c.448G= (p.Glu150=)
n.630G=
16g.2496596G>TCA394376045TBC1D24c.448G>T (p.Glu150Ter)
n.630G>T
16g.2496597A>CCA394376047TBC1D24c.449A>C (p.Glu150Ala)
n.631A>C
16g.2496597A>GCA394376048TBC1D24c.449A>G (p.Glu150Gly)
n.631A>G
16g.2496597A>TCA394376049TBC1D24c.449A>T (p.Glu150Val)
n.631A>T
16g.2496598G>ACA493366716TBC1D24c.450G>A (p.Glu150=)
n.632G>A
gnomAD v4
16g.2496598G>CCA394376051TBC1D24c.450G>C (p.Glu150Asp)
n.632G>C
16g.2496598G>TCA394376052TBC1D24c.450G>T (p.Glu150Asp)
n.632G>T
gnomAD v4
16g.2496599T>ACA394376055TBC1D24c.451T>A (p.Cys151Ser)
n.633T>A
16g.2496599T>CCA394376057TBC1D24c.451T>C (p.Cys151Arg)
n.633T>C
16g.2496599T>GCA394376056TBC1D24c.451T>G (p.Cys151Gly)
n.633T>G
16g.2496600G>ACA394376059TBC1D24c.452G>A (p.Cys151Tyr)
n.634G>A
gnomAD v4
16g.2496600G>CCA394376064TBC1D24c.452G>C (p.Cys151Ser)
n.634G>C
16g.2496600G=CA2202259891TBC1D24c.452G= (p.Cys151=)
n.634G=
16g.2496600G>TCA394376062TBC1D24c.452G>T (p.Cys151Phe)
n.634G>T
dbSNP
16g.2496601C>ACA394376067TBC1D24c.453C>A (p.Cys151Ter)
n.635C>A
16g.2496601C=CA2202259892TBC1D24c.453C= (p.Cys151=)
n.635C=
16g.2496601C>GCA394376068TBC1D24c.453C>G (p.Cys151Trp)
n.635C>G
16g.2496601C>TCA493366720TBC1D24c.453C>T (p.Cys151=)
n.635C>T
dbSNP gnomAD v3 gnomAD v4
16g.2496602T>ACA394376071TBC1D24c.454T>A (p.Phe152Ile)
n.636T>A
16g.2496602T>CCA394376073TBC1D24c.454T>C (p.Phe152Leu)
n.636T>C
16g.2496602T>GCA394376074TBC1D24c.454T>G (p.Phe152Val)
n.636T>G
16g.2496603T>ACA394376077TBC1D24c.455T>A (p.Phe152Tyr)
n.637T>A
gnomAD v4
16g.2496603T>CCA394376079TBC1D24c.455T>C (p.Phe152Ser)
n.637T>C
ClinVar
16g.2496603T>GCA394376081TBC1D24c.455T>G (p.Phe152Cys)
n.637T>G
16g.2496604C>ACA394376083TBC1D24c.456C>A (p.Phe152Leu)
n.638C>A
16g.2496604C=CA2202259893TBC1D24c.456C= (p.Phe152=)
n.638C=
16g.2496604C>GCA394376085TBC1D24c.456C>G (p.Phe152Leu)
n.638C>G
16g.2496604C>TCA493366724TBC1D24c.456C>T (p.Phe152=)
n.638C>T
ClinVar dbSNP gnomAD v4
16g.2496605G>ACA319022TBC1D24c.457G>A (p.Glu153Lys)
n.639G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496605G>CCA394376088TBC1D24c.457G>C (p.Glu153Gln)
n.639G>C
dbSNP gnomAD v2 gnomAD v4
16g.2496605G=CA2202259894TBC1D24c.457G= (p.Glu153=)
n.639G=
16g.2496605G>TCA394376089TBC1D24c.457G>T (p.Glu153Ter)
n.639G>T
dbSNP gnomAD v2 gnomAD v4
16g.2496606A=CA2202259895TBC1D24c.458A= (p.Glu153=)
n.640A=
16g.2496606A>CCA394376094TBC1D24c.458A>C (p.Glu153Ala)
n.640A>C
ClinVar dbSNP
16g.2496606A>GCA394376092TBC1D24c.458A>G (p.Glu153Gly)
n.640A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496606A>TCA394376091TBC1D24c.458A>T (p.Glu153Val)
n.640A>T
16g.2496607G>ACA493366727TBC1D24c.459G>A (p.Glu153=)
n.641G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496607G>CCA394376096TBC1D24c.459G>C (p.Glu153Asp)
n.641G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496607G=CA2202259896TBC1D24c.459G= (p.Glu153=)
n.641G=
16g.2496607G>TCA394376097TBC1D24c.459G>T (p.Glu153Asp)
n.641G>T
gnomAD v4
16g.2496608A>CCA394376099TBC1D24c.460A>C (p.Lys154Gln)
n.642A>C
16g.2496608A>GCA394376100TBC1D24c.460A>G (p.Lys154Glu)
n.642A>G
16g.2496608A>TCA394376101TBC1D24c.460A>T (p.Lys154Ter)
n.642A>T
16g.2496609A>CCA394376103TBC1D24c.461A>C (p.Lys154Thr)
n.643A>C
16g.2496609A>GCA394376104TBC1D24c.461A>G (p.Lys154Arg)
n.643A>G
ClinVar
16g.2496609A>TCA394376105TBC1D24c.461A>T (p.Lys154Met)
n.643A>T
gnomAD v4
16g.2496609_2496624delinsAGGCCTGCCGCATCCTCA2202259897TBC1D24c.461_476delinsAGGCCTGCCGCATCCT (p.Lys154=)
n.643_658delinsAGGCCTGCCGCATCCT
16g.2496610G>ACA493366731TBC1D24c.462G>A (p.Lys154=)
n.644G>A
16g.2496610G>CCA394376107TBC1D24c.462G>C (p.Lys154Asn)
n.644G>C
16g.2496610G=CA2202259898TBC1D24c.462G= (p.Lys154=)
n.644G=
16g.2496610G>TCA394376109TBC1D24c.462G>T (p.Lys154Asn)
n.644G>T
dbSNP gnomAD v2 gnomAD v4
16g.2496617_2496631delCA620709060TBC1D24c.469_483del (p.Arg157_Cys161del)
n.651_665del
dbSNP gnomAD v2
16g.2496611G>ACA394376111TBC1D24c.463G>A (p.Ala155Thr)
n.645G>A
16g.2496611G>CCA394376112TBC1D24c.463G>C (p.Ala155Pro)
n.645G>C
16g.2496611G>TCA394376114TBC1D24c.463G>T (p.Ala155Ser)
n.645G>T
gnomAD v4
16g.2496612C>ACA394376118TBC1D24c.464C>A (p.Ala155Asp)
n.646C>A
16g.2496612C=CA2202259899TBC1D24c.464C= (p.Ala155=)
n.646C=
16g.2496612C>GCA394376119TBC1D24c.464C>G (p.Ala155Gly)
n.646C>G
ClinVar
16g.2496612C>TCA394376116TBC1D24c.464C>T (p.Ala155Val)
n.646C>T
dbSNP gnomAD v2 COSMIC
16g.2496613C>ACA493366736TBC1D24c.465C>A (p.Ala155=)
n.647C>A
16g.2496613C=CA2202259900TBC1D24c.465C= (p.Ala155=)
n.647C=
16g.2496613C>GCA493366737TBC1D24c.465C>G (p.Ala155=)
n.647C>G
gnomAD v4
16g.2496613C>TCA493366738TBC1D24c.465C>T (p.Ala155=)
n.647C>T
ClinVar dbSNP
16g.2496614T>ACA394376120TBC1D24c.466T>A (p.Cys156Ser)
n.648T>A
16g.2496614T>CCA394376122TBC1D24c.466T>C (p.Cys156Arg)
n.648T>C
16g.2496614T>GCA394376124TBC1D24c.466T>G (p.Cys156Gly)
n.648T>G
16g.2496615G>ACA394376126TBC1D24c.467G>A (p.Cys156Tyr)
n.649G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496615G>CCA394376128TBC1D24c.467G>C (p.Cys156Ser)
n.649G>C
gnomAD v4
16g.2496615G=CA2202259901TBC1D24c.467G= (p.Cys156=)
n.649G=
16g.2496615G>TCA394376130TBC1D24c.467G>T (p.Cys156Phe)
n.649G>T
gnomAD v4
16g.2496616C>ACA344790TBC1D24c.468C>A (p.Cys156Ter)
n.650C>A
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496616C=CA2202259902TBC1D24c.468C= (p.Cys156=)
n.650C=
16g.2496616C>GCA394376132TBC1D24c.468C>G (p.Cys156Trp)
n.650C>G
16g.2496616C>TCA493366741TBC1D24c.468C>T (p.Cys156=)
n.650C>T
gnomAD v4
16g.2496617C>ACA394376135TBC1D24c.469C>A (p.Arg157Ser)
n.651C>A
16g.2496617C=CA2202259903TBC1D24c.469C= (p.Arg157=)
n.651C=
16g.2496617C>GCA394376137TBC1D24c.469C>G (p.Arg157Gly)
n.651C>G
16g.2496617C>TCA276809626TBC1D24c.469C>T (p.Arg157Cys)
n.651C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496618G>ACA394376144TBC1D24c.470G>A (p.Arg157His)
n.652G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496618G>CCA394376142TBC1D24c.470G>C (p.Arg157Pro)
n.652G>C
16g.2496618G=CA2202259904TBC1D24c.470G= (p.Arg157=)
n.652G=
16g.2496618G>TCA394376141TBC1D24c.470G>T (p.Arg157Leu)
n.652G>T
gnomAD v4
16g.2496619C>ACA493366744TBC1D24c.471C>A (p.Arg157=)
n.653C>A
dbSNP gnomAD v3 gnomAD v4
16g.2496619C=CA2202259905TBC1D24c.471C= (p.Arg157=)
n.653C=
16g.2496619C>GCA493366745TBC1D24c.471C>G (p.Arg157=)
n.653C>G
16g.2496619C>TCA493366746TBC1D24c.471C>T (p.Arg157=)
n.653C>T
16g.2496620A=CA2202259906TBC1D24c.472A= (p.Ile158=)
n.654A=
16g.2496620A>CCA394376147TBC1D24c.472A>C (p.Ile158Leu)
n.654A>C
16g.2496620A>GCA394376149TBC1D24c.472A>G (p.Ile158Val)
n.654A>G
dbSNP gnomAD v4
16g.2496620A>TCA394376151TBC1D24c.472A>T (p.Ile158Phe)
n.654A>T
16g.2496621T>ACA394376153TBC1D24c.473T>A (p.Ile158Asn)
n.655T>A
16g.2496621T>CCA394376155TBC1D24c.473T>C (p.Ile158Thr)
n.655T>C
16g.2496621T>GCA394376156TBC1D24c.473T>G (p.Ile158Ser)
n.655T>G
16g.2496621_2496622delinsTCCA2202259907TBC1D24c.473_474delinsTC (p.Ile158=)
n.655_656delinsTC
16g.2496622C>ACA493366750TBC1D24c.474C>A (p.Ile158=)
n.656C>A
dbSNP
16g.2496622C=CA2202259908TBC1D24c.474C= (p.Ile158=)
n.656C=
16g.2496622C>GCA394376160TBC1D24c.474C>G (p.Ile158Met)
n.656C>G
16g.2496622C>TCA493366754TBC1D24c.474C>T (p.Ile158=)
n.656C>T
COSMIC
16g.2496623delCA319047TBC1D24c.475del (p.Leu159TrpfsTer10)
n.657del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496623C>ACA394376165TBC1D24c.475C>A (p.Leu159Met)
n.657C>A
16g.2496623C>GCA394376167TBC1D24c.475C>G (p.Leu159Val)
n.657C>G
16g.2496623C>TCA493366755TBC1D24c.475C>T (p.Leu159=)
n.657C>T
16g.2496624T>ACA394376171TBC1D24c.476T>A (p.Leu159Gln)
n.658T>A
16g.2496624T>CCA053438TBC1D24c.476T>C (p.Leu159Pro)
n.658T>C
ClinVar dbSNP gnomAD v4
16g.2496624T>GCA394376169TBC1D24c.476T>G (p.Leu159Arg)
n.658T>G
16g.2496624T=CA2202259909TBC1D24c.476T= (p.Leu159=)
n.658T=
16g.2496625G>ACA493366759TBC1D24c.477G>A (p.Leu159=)
n.659G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496625G>CCA7844007TBC1D24c.477G>C (p.Leu159=)
n.659G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496625G=CA2202259910TBC1D24c.477G= (p.Leu159=)
n.659G=
16g.2496625G>TCA493366757TBC1D24c.477G>T (p.Leu159=)
n.659G>T
gnomAD v4
16g.2496626G>ACA394376177TBC1D24c.478G>A (p.Ala160Thr)
n.660G>A
dbSNP gnomAD v4
16g.2496626G>CCA394376173TBC1D24c.478G>C (p.Ala160Pro)
n.660G>C
16g.2496626G=CA2202259911TBC1D24c.478G= (p.Ala160=)
n.660G=
16g.2496626G>TCA394376176TBC1D24c.478G>T (p.Ala160Ser)
n.660G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496627C>ACA394376179TBC1D24c.479C>A (p.Ala160Asp)
n.661C>A
16g.2496627C=CA2202259912TBC1D24c.479C= (p.Ala160=)
n.661C=
16g.2496627C>GCA394376181TBC1D24c.479C>G (p.Ala160Gly)
n.661C>G
16g.2496627C>TCA394376183TBC1D24c.479C>T (p.Ala160Val)
n.661C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496628C>ACA493366765TBC1D24c.480C>A (p.Ala160=)
n.662C>A
16g.2496628C>GCA493366766TBC1D24c.480C>G (p.Ala160=)
n.662C>G
16g.2496628C>TCA493366767TBC1D24c.480C>T (p.Ala160=)
n.662C>T
16g.2496629T>ACA394376186TBC1D24c.481T>A (p.Cys161Ser)
n.663T>A
16g.2496629T>CCA394376187TBC1D24c.481T>C (p.Cys161Arg)
n.663T>C
16g.2496629T>GCA394376189TBC1D24c.481T>G (p.Cys161Gly)
n.663T>G
16g.2496630G>ACA394376192TBC1D24c.482G>A (p.Cys161Tyr)
n.664G>A
gnomAD v4
16g.2496630G>CCA394376194TBC1D24c.482G>C (p.Cys161Ser)
n.664G>C
16g.2496630G=CA2202259913TBC1D24c.482G= (p.Cys161=)
n.664G=
16g.2496630G>TCA7844008TBC1D24c.482G>T (p.Cys161Phe)
n.664G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496631C>ACA7844009TBC1D24c.483C>A (p.Cys161Ter)
n.665C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496631C=CA2202259914TBC1D24c.483C= (p.Cys161=)
n.665C=
16g.2496631C>GCA394376198TBC1D24c.483C>G (p.Cys161Trp)
n.665C>G
16g.2496631C>TCA493366769TBC1D24c.483C>T (p.Cys161=)
n.665C>T
gnomAD v4 COSMIC
16g.2496632A>CCA394376201TBC1D24c.484A>C (p.Asn162His)
n.666A>C
16g.2496632A>GCA394376203TBC1D24c.484A>G (p.Asn162Asp)
n.666A>G
16g.2496632A>TCA394376202TBC1D24c.484A>T (p.Asn162Tyr)
n.666A>T
16g.2496633A=CA2202259915TBC1D24c.485A= (p.Asn162=)
n.667A=
16g.2496633A>CCA394376207TBC1D24c.485A>C (p.Asn162Thr)
n.667A>C
16g.2496633A>GCA7844010TBC1D24c.485A>G (p.Asn162Ser)
n.667A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496633A>TCA394376209TBC1D24c.485A>T (p.Asn162Ile)
n.667A>T
16g.2496634T>ACA10647225TBC1D24c.486T>A (p.Asn162Lys)
n.668T>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496634T>CCA493366773TBC1D24c.486T>C (p.Asn162=)
n.668T>C
16g.2496634T>GCA394376212TBC1D24c.486T>G (p.Asn162Lys)
n.668T>G
16g.2496634T=CA2202259916TBC1D24c.486T= (p.Asn162=)
n.668T=
16g.2496635G>ACA394376214TBC1D24c.487G>A (p.Asp163Asn)
n.669G>A
16g.2496635G>CCA394376216TBC1D24c.487G>C (p.Asp163His)
n.669G>C
16g.2496635G>TCA394376217TBC1D24c.487G>T (p.Asp163Tyr)
n.669G>T
ClinVar
16g.2496636A>CCA394376219TBC1D24c.488A>C (p.Asp163Ala)
n.670A>C
16g.2496636A>GCA394376221TBC1D24c.488A>G (p.Asp163Gly)
n.670A>G
COSMIC
16g.2496636A>TCA394376223TBC1D24c.488A>T (p.Asp163Val)
n.670A>T
16g.2496637C>ACA394376224TBC1D24c.489C>A (p.Asp163Glu)
n.671C>A
gnomAD v4
16g.2496637C>GCA394376225TBC1D24c.489C>G (p.Asp163Glu)
n.671C>G
16g.2496637C>TCA493366852TBC1D24c.489C>T (p.Asp163=)
n.671C>T
ClinVar
16g.2496638C>ACA394376229TBC1D24c.490C>A (p.Pro164Thr)
n.672C>A
16g.2496638C=CA2202259917TBC1D24c.490C= (p.Pro164=)
n.672C=
16g.2496638C>GCA394376230TBC1D24c.490C>G (p.Pro164Ala)
n.672C>G
16g.2496638C>TCA394376233TBC1D24c.490C>T (p.Pro164Ser)
n.672C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496639C>ACA394376235TBC1D24c.491C>A (p.Pro164His)
n.673C>A
16g.2496639C>GCA394376237TBC1D24c.491C>G (p.Pro164Arg)
n.673C>G
16g.2496639C>TCA394376238TBC1D24c.491C>T (p.Pro164Leu)
n.673C>T
gnomAD v4
16g.2496640C>ACA493366855TBC1D24c.492C>A (p.Pro164=)
n.674C>A
gnomAD v4
16g.2496640C=CA2202259918TBC1D24c.492C= (p.Pro164=)
n.674C=
16g.2496640C>GCA7844012TBC1D24c.492C>G (p.Pro164=)
n.674C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496640C>TCA7844011TBC1D24c.492C>T (p.Pro164=)
n.674C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496640_2496641delCA2544183399TBC1D24c.492_493del (p.Gly165GlnfsTer12)
n.674_675del
16g.2496641G>ACA318989TBC1D24c.493G>A (p.Gly165Ser)
n.675G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496641G>CCA394376243TBC1D24c.493G>C (p.Gly165Arg)
n.675G>C
gnomAD v4
16g.2496641G=CA2202259919TBC1D24c.493G= (p.Gly165=)
n.675G=
16g.2496641G>TCA394376245TBC1D24c.493G>T (p.Gly165Cys)
n.675G>T
ClinVar dbSNP gnomAD v4
16g.2496642G>ACA394376247TBC1D24c.494G>A (p.Gly165Asp)
n.676G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496642G>CCA394376248TBC1D24c.494G>C (p.Gly165Ala)
n.676G>C
16g.2496642G=CA2202259920TBC1D24c.494G= (p.Gly165=)
n.676G=
16g.2496642G>TCA394376250TBC1D24c.494G>T (p.Gly165Val)
n.676G>T
gnomAD v4
16g.2496642_2496643insTCCA2529358813TBC1D24c.494_495insTC (p.Arg166ProfsTer4)
n.676_677insTC
16g.2496643C>ACA493366859TBC1D24c.495C>A (p.Gly165=)
n.677C>A
gnomAD v4
16g.2496643C=CA2202259921TBC1D24c.495C= (p.Gly165=)
n.677C=
16g.2496643C>GCA7844013TBC1D24c.495C>G (p.Gly165=)
n.677C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496643C>TCA493366860TBC1D24c.495C>T (p.Gly165=)
n.677C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496644A>CCA493366861TBC1D24c.496A>C (p.Arg166=)
n.678A>C
16g.2496644A>GCA394376254TBC1D24c.496A>G (p.Arg166Gly)
n.678A>G
16g.2496644A>TCA394376256TBC1D24c.496A>T (p.Arg166Trp)
n.678A>T
16g.2496644dupCA2202259922TBC1D24c.496dup (p.Arg166LysfsTer12)
n.678dup
dbSNP
16g.2496645G>ACA394376259TBC1D24c.497G>A (p.Arg166Lys)
n.679G>A
16g.2496645G>CCA394376261TBC1D24c.497G>C (p.Arg166Thr)
n.679G>C
16g.2496645G>TCA394376263TBC1D24c.497G>T (p.Arg166Met)
n.679G>T
16g.2496646G>ACA276809627TBC1D24c.498G>A (p.Arg166=)
n.680G>A
dbSNP
16g.2496646G>CCA394376265TBC1D24c.498G>C (p.Arg166Ser)
n.680G>C
16g.2496646G=CA2202259923TBC1D24c.498G= (p.Arg166=)
n.680G=
16g.2496646G>TCA394376267TBC1D24c.498G>T (p.Arg166Ser)
n.680G>T
16g.2496647A=CA2202259924TBC1D24c.499A= (p.Arg167=)
n.681A=
16g.2496647A>CCA7844014TBC1D24c.499A>C (p.Arg167=)
n.681A>C
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496647A>GCA394376270TBC1D24c.499A>G (p.Arg167Gly)
n.681A>G
16g.2496647A>TCA394376272TBC1D24c.499A>T (p.Arg167Trp)
n.681A>T
dbSNP
16g.2496648G>ACA394376273TBC1D24c.500G>A (p.Arg167Lys)
n.682G>A
16g.2496648G>CCA394376274TBC1D24c.500G>C (p.Arg167Thr)
n.682G>C
dbSNP gnomAD v3 gnomAD v4
16g.2496648G=CA2202259925TBC1D24c.500G= (p.Arg167=)
n.682G=
16g.2496648G>TCA394376275TBC1D24c.500G>T (p.Arg167Met)
n.682G>T
16g.2496649G>ACA493366867TBC1D24c.501G>A (p.Arg167=)
n.683G>A
dbSNP gnomAD v2
16g.2496649G>CCA394376279TBC1D24c.501G>C (p.Arg167Ser)
n.683G>C
16g.2496649G=CA2202259926TBC1D24c.501G= (p.Arg167=)
n.683G=
16g.2496649G>TCA394376277TBC1D24c.501G>T (p.Arg167Ser)
n.683G>T
gnomAD v4
16g.2496650C>ACA394376281TBC1D24c.502C>A (p.Leu168Met)
n.684C>A
16g.2496650C>GCA394376283TBC1D24c.502C>G (p.Leu168Val)
n.684C>G
16g.2496650C>TCA493366869TBC1D24c.502C>T (p.Leu168=)
n.684C>T
16g.2496651T>ACA394376285TBC1D24c.503T>A (p.Leu168Gln)
n.685T>A
16g.2496651T>CCA7844015TBC1D24c.503T>C (p.Leu168Pro)
n.685T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496651T>GCA394376287TBC1D24c.503T>G (p.Leu168Arg)
n.685T>G
16g.2496651T=CA2202259927TBC1D24c.503T= (p.Leu168=)
n.685T=
16g.2496652G>ACA493366873TBC1D24c.504G>A (p.Leu168=)
n.686G>A
16g.2496652G>CCA493366876TBC1D24c.504G>C (p.Leu168=)
n.686G>C
16g.2496652G>TCA493366878TBC1D24c.504G>T (p.Leu168=)
n.686G>T
gnomAD v4

Number of alleles fetched