Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.72888407G>ACA347231530SPRc.398G>A (p.Cys133Tyr)
n.356-13G>A
2g.72888407G>CCA347231531SPRc.398G>C (p.Cys133Ser)
n.356-13G>C
2g.72888407G=CA1260703862SPRc.398G= (p.Cys133=)
n.356-13G=
2g.72888407G>TCA347231532SPRc.398G>T (p.Cys133Phe)
n.356-13G>T
ClinVar dbSNP
2g.72888408C>ACA347231533SPRc.399C>A (p.Cys133Ter)
n.356-12C>A
2g.72888408C>GCA347231534SPRc.399C>G (p.Cys133Trp)
n.356-12C>G
2g.72888408C>TCA426759534SPRc.399C>T (p.Cys133=)
n.356-12C>T
COSMIC
2g.72888409C>ACA347231535SPRc.400C>A (p.Leu134Met)
n.356-11C>A
2g.72888409C>GCA347231536SPRc.400C>G (p.Leu134Val)
n.356-11C>G
2g.72888409C>TCA426759540SPRc.400C>T (p.Leu134=)
n.356-11C>T
2g.72888410T>ACA347231537SPRc.401T>A (p.Leu134Gln)
n.356-10T>A
2g.72888410T>CCA347231538SPRc.401T>C (p.Leu134Pro)
n.356-10T>C
dbSNP gnomAD v4
2g.72888410T>GCA347231539SPRc.401T>G (p.Leu134Arg)
n.356-10T>G
2g.72888410T=CA1260703863SPRc.401T= (p.Leu134=)
n.356-10T=
2g.72888411G>ACA426759544SPRc.402G>A (p.Leu134=)
n.356-9G>A
gnomAD v4
2g.72888411G>CCA426759545SPRc.402G>C (p.Leu134=)
n.356-9G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.72888411G=CA1260703864SPRc.402G= (p.Leu134=)
n.356-9G=
2g.72888411G>TCA426759548SPRc.402G>T (p.Leu134=)
n.356-9G>T
2g.72888412A>CCA347231540SPRc.403A>C (p.Thr135Pro)
n.356-8A>C
2g.72888412A>GCA347231543SPRc.403A>G (p.Thr135Ala)
n.356-8A>G
2g.72888412A>TCA347231541SPRc.403A>T (p.Thr135Ser)
n.356-8A>T
2g.72888413C>ACA347231545SPRc.404C>A (p.Thr135Asn)
n.356-7C>A
2g.72888413C>GCA347231547SPRc.404C>G (p.Thr135Ser)
n.356-7C>G
2g.72888413C>TCA347231548SPRc.404C>T (p.Thr135Ile)
n.356-7C>T
2g.72888414T>ACA426759555SPRc.405T>A (p.Thr135=)
n.356-6T>A
2g.72888414T>CCA426759559SPRc.405T>C (p.Thr135=)
n.356-6T>C
gnomAD v4
2g.72888414T>GCA426759562SPRc.405T>G (p.Thr135=)
n.356-6T>G
2g.72888415T>ACA347231552SPRc.406T>A (p.Ser136Thr)
n.356-5T>A
2g.72888415T>CCA347231553SPRc.406T>C (p.Ser136Pro)
n.356-5T>C
2g.72888415T>GCA347231554SPRc.406T>G (p.Ser136Ala)
n.356-5T>G
2g.72888416C>ACA347231557SPRc.407C>A (p.Ser136Tyr)
n.356-4C>A
2g.72888416C>GCA347231559SPRc.407C>G (p.Ser136Cys)
n.356-4C>G
ClinVar
2g.72888416C>TCA347231560SPRc.407C>T (p.Ser136Phe)
n.356-4C>T
gnomAD v4
2g.72888417C>ACA426759572SPRc.408C>A (p.Ser136=)
n.356-3C>A
2g.72888417C>GCA426759576SPRc.408C>G (p.Ser136=)
n.356-3C>G
2g.72888417C>TCA426759579SPRc.408C>T (p.Ser136=)
n.356-3C>T
2g.72888418A>CCA347231566SPRc.409A>C (p.Ser137Arg)
n.356-2A>C
2g.72888418A>GCA347231564SPRc.409A>G (p.Ser137Gly)
n.356-2A>G
2g.72888418A>TCA347231562SPRc.409A>T (p.Ser137Cys)
n.356-2A>T
2g.72888419G>ACA347231568SPRc.410G>A (p.Ser137Asn)
n.356-1G>A
dbSNP COSMIC
2g.72888419G>CCA347231570SPRc.410G>C (p.Ser137Thr)
n.356-1G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.72888419G=CA1260703865SPRc.410G= (p.Ser137=)
n.356-1G=
2g.72888419G>TCA347231572SPRc.410G>T (p.Ser137Ile)
n.356-1G>T
2g.72888420C>ACA347231574SPRc.411C>A (p.Ser137Arg)
n.356C>A
gnomAD v4
2g.72888420C>GCA347231576SPRc.411C>G (p.Ser137Arg)
n.356C>G
2g.72888420C>TCA426759585SPRc.411C>T (p.Ser137=)
n.356C>T
gnomAD v4
2g.72888421G>ACA1708950SPRc.412G>A (p.Val138Ile)
n.357G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.72888421G>CCA1708949SPRc.412G>C (p.Val138Leu)
n.357G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72888421G=CA1260703866SPRc.412G= (p.Val138=)
n.357G=
2g.72888421G>TCA1708948SPRc.412G>T (p.Val138Phe)
n.357G>T
dbSNP ExAC gnomAD v2
2g.72888422T>ACA347231581SPRc.413T>A (p.Val138Asp)
n.358T>A
2g.72888422T>CCA347231584SPRc.413T>C (p.Val138Ala)
n.358T>C
2g.72888422T>GCA347231586SPRc.413T>G (p.Val138Gly)
n.358T>G
2g.72888423C>ACA426759594SPRc.414C>A (p.Val138=)
n.359C>A
2g.72888423C=CA1260703867SPRc.414C= (p.Val138=)
n.359C=
2g.72888423C>GCA426759595SPRc.414C>G (p.Val138=)
n.359C>G
2g.72888423C>TCA49796157SPRc.414C>T (p.Val138=)
n.359C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.72888424C>ACA347231589SPRc.415C>A (p.Leu139Met)
n.360C>A
2g.72888424C>GCA347231591SPRc.415C>G (p.Leu139Val)
n.360C>G
gnomAD v4
2g.72888424C>TCA426759596SPRc.415C>T (p.Leu139=)
n.360C>T
2g.72888425T>ACA347231593SPRc.416T>A (p.Leu139Gln)
n.361T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.72888425T>CCA347231597SPRc.416T>C (p.Leu139Pro)
n.361T>C
2g.72888425T>GCA347231595SPRc.416T>G (p.Leu139Arg)
n.361T>G
2g.72888425T=CA1260703868SPRc.416T= (p.Leu139=)
n.361T=
2g.72888426G>ACA426759605SPRc.417G>A (p.Leu139=)
n.362G>A
ClinVar
2g.72888426G>CCA426759608SPRc.417G>C (p.Leu139=)
n.362G>C
gnomAD v4
2g.72888426G>TCA426759611SPRc.417G>T (p.Leu139=)
n.362G>T
2g.72888427A=CA1260703869SPRc.418A= (p.Lys140=)
n.363A=
2g.72888427A>CCA347231599SPRc.418A>C (p.Lys140Gln)
n.363A>C
2g.72888427A>GCA347231600SPRc.418A>G (p.Lys140Glu)
n.363A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.72888427A>TCA347231602SPRc.418A>T (p.Lys140Ter)
n.363A>T
2g.72888428A>CCA347231604SPRc.419A>C (p.Lys140Thr)
n.364A>C
2g.72888428A>GCA347231606SPRc.419A>G (p.Lys140Arg)
n.364A>G
2g.72888428A>TCA347231608SPRc.419A>T (p.Lys140Met)
n.364A>T
2g.72888429G>ACA426759618SPRc.420G>A (p.Lys140=)
n.365G>A
dbSNP
2g.72888429G>CCA347231610SPRc.420G>C (p.Lys140Asn)
n.365G>C
2g.72888429G=CA1260703870SPRc.420G= (p.Lys140=)
n.365G=
2g.72888429G>TCA347231612SPRc.420G>T (p.Lys140Asn)
n.365G>T
2g.72888430G>ACA347231614SPRc.421G>A (p.Ala141Thr)
n.366G>A
2g.72888430G>CCA347231615SPRc.421G>C (p.Ala141Pro)
n.366G>C
2g.72888430G>TCA347231617SPRc.421G>T (p.Ala141Ser)
n.366G>T
2g.72888431C>ACA347231621SPRc.422C>A (p.Ala141Asp)
n.367C>A
2g.72888431C=CA1260703871SPRc.422C= (p.Ala141=)
n.367C=
2g.72888431C>GCA1708951SPRc.422C>G (p.Ala141Gly)
n.367C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.72888431C>TCA347231619SPRc.422C>T (p.Ala141Val)
n.367C>T
dbSNP gnomAD v4
2g.72888432C>ACA426759627SPRc.423C>A (p.Ala141=)
n.368C>A
2g.72888432C>GCA426759632SPRc.423C>G (p.Ala141=)
n.368C>G
2g.72888432C>TCA426759633SPRc.423C>T (p.Ala141=)
n.368C>T
gnomAD v4
2g.72888433T>ACA347231626SPRc.424T>A (p.Phe142Ile)
n.369T>A
2g.72888433T>CCA1708952SPRc.424T>C (p.Phe142Leu)
n.369T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.72888433T>GCA347231624SPRc.424T>G (p.Phe142Val)
n.369T>G
2g.72888433T=CA1260703872SPRc.424T= (p.Phe142=)
n.369T=
2g.72888434T>ACA347231628SPRc.425T>A (p.Phe142Tyr)
n.370T>A
2g.72888434T>CCA347231630SPRc.425T>C (p.Phe142Ser)
n.370T>C
2g.72888434T>GCA347231632SPRc.425T>G (p.Phe142Cys)
n.370T>G
2g.72888435C>ACA347231634SPRc.426C>A (p.Phe142Leu)
n.371C>A
2g.72888435C>GCA347231636SPRc.426C>G (p.Phe142Leu)
n.371C>G
2g.72888435C>TCA426759643SPRc.426C>T (p.Phe142=)
n.371C>T
gnomAD v4
2g.72888436C>ACA347231638SPRc.427C>A (p.Pro143Thr)
n.372C>A
2g.72888436C=CA1260703873SPRc.427C= (p.Pro143=)
n.372C=
2g.72888436C>GCA347231642SPRc.427C>G (p.Pro143Ala)
n.372C>G
ClinVar
2g.72888436C>TCA347231640SPRc.427C>T (p.Pro143Ser)
n.372C>T
dbSNP
2g.72888437C>ACA347231643SPRc.428C>A (p.Pro143Gln)
n.373C>A
2g.72888437C=CA1260703874SPRc.428C= (p.Pro143=)
n.373C=
2g.72888437C>GCA347231645SPRc.428C>G (p.Pro143Arg)
n.373C>G
ClinVar gnomAD v4
2g.72888437C>TCA347231646SPRc.428C>T (p.Pro143Leu)
n.373C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.72888438G>ACA426759651SPRc.429G>A (p.Pro143=)
n.374G>A
ClinVar dbSNP gnomAD v4
2g.72888438G>CCA426759654SPRc.429G>C (p.Pro143=)
n.374G>C
2g.72888438G=CA1260703875SPRc.429G= (p.Pro143=)
n.374G=
2g.72888438G>TCA1708953SPRc.429G>T (p.Pro143=)
n.374G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72888439G>ACA347231653SPRc.430G>A (p.Asp144Asn)
n.375G>A
2g.72888439G>CCA347231649SPRc.430G>C (p.Asp144His)
n.375G>C
2g.72888439G>TCA347231651SPRc.430G>T (p.Asp144Tyr)
n.375G>T
2g.72888440A=CA1260703876SPRc.431A= (p.Asp144=)
n.376A=
2g.72888440A>CCA347231655SPRc.431A>C (p.Asp144Ala)
n.376A>C
dbSNP
2g.72888440A>GCA347231657SPRc.431A>G (p.Asp144Gly)
n.376A>G
2g.72888440A>TCA1708954SPRc.431A>T (p.Asp144Val)
n.376A>T
dbSNP ExAC gnomAD v2
2g.72888441C>ACA347231660SPRc.432C>A (p.Asp144Glu)
n.377C>A
2g.72888441C=CA1260703877SPRc.432C= (p.Asp144=)
n.377C=
2g.72888441C>GCA347231662SPRc.432C>G (p.Asp144Glu)
n.377C>G
2g.72888441C>TCA426759662SPRc.432C>T (p.Asp144=)
n.377C>T
dbSNP gnomAD v2 gnomAD v4
2g.72888442A>CCA347231664SPRc.433A>C (p.Ser145Arg)
n.378A>C
gnomAD v4
2g.72888442A>GCA347231666SPRc.433A>G (p.Ser145Gly)
n.378A>G
2g.72888442A>TCA347231668SPRc.433A>T (p.Ser145Cys)
n.378A>T
2g.72888443G>ACA347231670SPRc.434G>A (p.Ser145Asn)
n.379G>A
2g.72888443G>CCA347231672SPRc.434G>C (p.Ser145Thr)
n.379G>C
2g.72888443G>TCA347231674SPRc.434G>T (p.Ser145Ile)
n.379G>T
2g.72888444T>ACA347231676SPRc.435T>A (p.Ser145Arg)
n.380T>A
2g.72888444T>CCA426759668SPRc.435T>C (p.Ser145=)
n.380T>C
2g.72888444T>GCA347231678SPRc.435T>G (p.Ser145Arg)
n.380T>G
2g.72888445C>ACA347231684SPRc.436C>A (p.Pro146Thr)
n.381C>A
ClinVar dbSNP gnomAD v4
2g.72888445C=CA1260703878SPRc.436C= (p.Pro146=)
n.381C=
2g.72888445C>GCA347231680SPRc.436C>G (p.Pro146Ala)
n.381C>G
2g.72888445C>TCA347231682SPRc.436C>T (p.Pro146Ser)
n.381C>T
gnomAD v4
2g.72888446C>ACA347231686SPRc.437C>A (p.Pro146His)
n.382C>A
2g.72888446C=CA1260703879SPRc.437C= (p.Pro146=)
n.382C=
2g.72888446C>GCA1708955SPRc.437C>G (p.Pro146Arg)
n.382C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.72888446C>TCA347231689SPRc.437C>T (p.Pro146Leu)
n.382C>T
2g.72888447T>ACA1708956SPRc.438T>A (p.Pro146=)
n.383T>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.72888447T>CCA426759676SPRc.438T>C (p.Pro146=)
n.383T>C
gnomAD v4
2g.72888447T>GCA1708957SPRc.438T>G (p.Pro146=)
n.383T>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.72888447T=CA1260703880SPRc.438T= (p.Pro146=)
n.383T=
2g.72888448G>ACA49796197SPRc.439G>A (p.Gly147Ser)
n.384G>A
dbSNP gnomAD v3 gnomAD v4
2g.72888448G>CCA347231695SPRc.439G>C (p.Gly147Arg)
n.384G>C
2g.72888448G=CA1260703881SPRc.439G= (p.Gly147=)
n.384G=
2g.72888448G>TCA347231693SPRc.439G>T (p.Gly147Cys)
n.384G>T
2g.72888449G>ACA347231699SPRc.440G>A (p.Gly147Asp)
n.385G>A
2g.72888449G>CCA347231700SPRc.440G>C (p.Gly147Ala)
n.385G>C
2g.72888449G>TCA347231702SPRc.440G>T (p.Gly147Val)
n.385G>T
2g.72888450C>ACA426759685SPRc.441C>A (p.Gly147=)
n.386C>A
2g.72888450C>GCA426759686SPRc.441C>G (p.Gly147=)
n.386C>G
2g.72888450C>TCA426759683SPRc.441C>T (p.Gly147=)
n.386C>T
2g.72888451C>ACA1708958SPRc.442C>A (p.Leu148Ile)
n.387C>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.72888451C=CA1260703882SPRc.442C= (p.Leu148=)
n.387C=
2g.72888451C>GCA347231705SPRc.442C>G (p.Leu148Val)
n.387C>G
2g.72888451C>TCA347231706SPRc.442C>T (p.Leu148Phe)
n.387C>T
2g.72888452T>ACA347231708SPRc.443T>A (p.Leu148His)
n.388T>A
2g.72888452T>CCA347231711SPRc.443T>C (p.Leu148Pro)
n.388T>C
2g.72888452T>GCA347231710SPRc.443T>G (p.Leu148Arg)
n.388T>G
2g.72888453C>ACA426759525SPRc.444C>A (p.Leu148=)
n.389C>A
COSMIC
2g.72888453C>GCA426759528SPRc.444C>G (p.Leu148=)
n.389C>G
2g.72888453C>TCA426759532SPRc.444C>T (p.Leu148=)
n.389C>T
2g.72888453_72888458delinsCAACAGCA1260703883SPRc.444_449delinsCAACAG (p.Leu148=)
n.389_394delinsCAACAG
2g.72888454A>CCA347231714SPRc.445A>C (p.Asn149His)
n.390A>C
2g.72888454A>GCA347231716SPRc.445A>G (p.Asn149Asp)
n.390A>G
2g.72888454A>TCA347231718SPRc.445A>T (p.Asn149Tyr)
n.390A>T
2g.72888457_72888461delCA122792SPRc.448_452del (p.Thr151GlyfsTer2)
n.393_397del
ClinVar dbSNP gnomAD v4
2g.72888455A=CA1260703884SPRc.446A= (p.Asn149=)
n.391A=
2g.72888455A>CCA347231721SPRc.446A>C (p.Asn149Thr)
n.391A>C
2g.72888455A>GCA347231723SPRc.446A>G (p.Asn149Ser)
n.391A>G
dbSNP gnomAD v4
2g.72888455A>TCA347231724SPRc.446A>T (p.Asn149Ile)
n.391A>T
2g.72888456C>ACA347231727SPRc.447C>A (p.Asn149Lys)
n.392C>A
gnomAD v4
2g.72888456C=CA1260703885SPRc.447C= (p.Asn149=)
n.392C=
2g.72888456C>GCA347231728SPRc.447C>G (p.Asn149Lys)
n.392C>G
2g.72888456C>TCA426759535SPRc.447C>T (p.Asn149=)
n.392C>T
dbSNP
2g.72888457A=CA1260703886SPRc.448A= (p.Arg150=)
n.393A=
2g.72888457A>CCA426759536SPRc.448A>C (p.Arg150=)
n.393A>C
2g.72888457A>GCA122793SPRc.448A>G (p.Arg150Gly)
n.393A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72888457A>TCA347231731SPRc.448A>T (p.Arg150Ter)
n.393A>T
2g.72888458G>ACA347231733SPRc.449G>A (p.Arg150Lys)
n.394G>A
2g.72888458G>CCA347231737SPRc.449G>C (p.Arg150Thr)
n.394G>C
gnomAD v4
2g.72888458G>TCA347231735SPRc.449G>T (p.Arg150Ile)
n.394G>T
2g.72888459A>CCA347231738SPRc.450A>C (p.Arg150Ser)
n.395A>C
2g.72888459A>GCA426759541SPRc.450A>G (p.Arg150=)
n.395A>G
gnomAD v4
2g.72888459A>TCA347231739SPRc.450A>T (p.Arg150Ser)
n.395A>T
2g.72888460A>CCA347231742SPRc.451A>C (p.Thr151Pro)
n.396A>C
2g.72888460A>GCA347231743SPRc.451A>G (p.Thr151Ala)
n.396A>G
2g.72888460A>TCA347231745SPRc.451A>T (p.Thr151Ser)
n.396A>T
2g.72888461C>ACA347231746SPRc.452C>A (p.Thr151Asn)
n.397C>A
2g.72888461C>GCA347231747SPRc.452C>G (p.Thr151Ser)
n.397C>G
2g.72888461C>TCA347231749SPRc.452C>T (p.Thr151Ile)
n.397C>T
gnomAD v4
2g.72888462C>ACA426759551SPRc.453C>A (p.Thr151=)
n.398C>A
2g.72888462C=CA1260703887SPRc.453C= (p.Thr151=)
n.398C=
2g.72888462C>GCA426759552SPRc.453C>G (p.Thr151=)
n.398C>G
2g.72888462C>TCA49796246SPRc.453C>T (p.Thr151=)
n.398C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.72888463G>ACA1708959SPRc.454G>A (p.Val152Met)
n.399G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72888463G>CCA347231751SPRc.454G>C (p.Val152Leu)
n.399G>C
2g.72888463G=CA1260703888SPRc.454G= (p.Val152=)
n.399G=
2g.72888463G>TCA347231753SPRc.454G>T (p.Val152Leu)
n.399G>T
2g.72888464T>ACA347231754SPRc.455T>A (p.Val152Glu)
n.400T>A
gnomAD v4
2g.72888464T>CCA347231756SPRc.455T>C (p.Val152Ala)
n.400T>C
ClinVar dbSNP COSMIC
2g.72888464T>GCA347231758SPRc.455T>G (p.Val152Gly)
n.400T>G
2g.72888465G>ACA426759561SPRc.456G>A (p.Val152=)
n.401G>A
2g.72888465G>CCA426759563SPRc.456G>C (p.Val152=)
n.401G>C
2g.72888465G>TCA426759564SPRc.456G>T (p.Val152=)
n.401G>T
gnomAD v4
2g.72888466G>ACA347231763SPRc.457G>A (p.Val153Ile)
n.402G>A
2g.72888466G>CCA347231760SPRc.457G>C (p.Val153Leu)
n.402G>C
2g.72888466G>TCA347231761SPRc.457G>T (p.Val153Phe)
n.402G>T
2g.72888467T>ACA347231765SPRc.458T>A (p.Val153Asp)
n.403T>A
2g.72888467T>CCA347231767SPRc.458T>C (p.Val153Ala)
n.403T>C
2g.72888467T>GCA347231768SPRc.458T>G (p.Val153Gly)
n.403T>G
2g.72888468T>ACA426759569SPRc.459T>A (p.Val153=)
n.404T>A
2g.72888468T>CCA426759570SPRc.459T>C (p.Val153=)
n.404T>C
2g.72888468T>GCA426759571SPRc.459T>G (p.Val153=)
n.404T>G
2g.72888469A>CCA347231770SPRc.460A>C (p.Asn154His)
n.405A>C
2g.72888469A>GCA347231772SPRc.460A>G (p.Asn154Asp)
n.405A>G
2g.72888469A>TCA347231773SPRc.460A>T (p.Asn154Tyr)
n.405A>T
2g.72888470A=CA1260703889SPRc.461A= (p.Asn154=)
n.406A=
2g.72888470A>CCA347231774SPRc.461A>C (p.Asn154Thr)
n.406A>C
2g.72888470A>GCA347231775SPRc.461A>G (p.Asn154Ser)
n.406A>G
dbSNP
2g.72888470A>TCA347231777SPRc.461A>T (p.Asn154Ile)
n.406A>T
dbSNP gnomAD v2 gnomAD v4
2g.72888471C>ACA347231779SPRc.462C>A (p.Asn154Lys)
n.407C>A
2g.72888471C>GCA347231781SPRc.462C>G (p.Asn154Lys)
n.407C>G
2g.72888471C>TCA426759574SPRc.462C>T (p.Asn154=)
n.407C>T
2g.72888472A>CCA347231786SPRc.463A>C (p.Ile155Leu)
n.408A>C
2g.72888472A>GCA347231784SPRc.463A>G (p.Ile155Val)
n.408A>G
gnomAD v4
2g.72888472A>TCA347231782SPRc.463A>T (p.Ile155Phe)
n.408A>T
2g.72888472_72888473delCA2750449296SPRc.463_464del (p.Ile155LeufsTer23)
n.408_409del
2g.72888473T>ACA347231788SPRc.464T>A (p.Ile155Asn)
n.409T>A
2g.72888473T>CCA347231789SPRc.464T>C (p.Ile155Thr)
n.409T>C
gnomAD v4
2g.72888473T>GCA347231791SPRc.464T>G (p.Ile155Ser)
n.409T>G
2g.72888474C>ACA426759581SPRc.465C>A (p.Ile155=)
n.410C>A
dbSNP
2g.72888474C=CA1260703890SPRc.465C= (p.Ile155=)
n.410C=
2g.72888474C>GCA347231793SPRc.465C>G (p.Ile155Met)
n.410C>G
2g.72888474C>TCA426759582SPRc.465C>T (p.Ile155=)
n.410C>T
2g.72888475T>ACA347231795SPRc.466T>A (p.Ser156Thr)
n.411T>A
2g.72888475T>CCA347231797SPRc.466T>C (p.Ser156Pro)
n.411T>C
2g.72888475T>GCA347231799SPRc.466T>G (p.Ser156Ala)
n.411T>G
2g.72888476C>ACA347231801SPRc.467C>A (p.Ser156Ter)
n.412C>A
2g.72888476C=CA1260703891SPRc.467C= (p.Ser156=)
n.412C=
2g.72888476C>GCA347231803SPRc.467C>G (p.Ser156Trp)
n.412C>G
2g.72888476C>TCA1708960SPRc.467C>T (p.Ser156Leu)
n.412C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72888477G>ACA1708961SPRc.468G>A (p.Ser156=)
n.413G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72888477G>CCA426759586SPRc.468G>C (p.Ser156=)
n.413G>C
gnomAD v4
2g.72888477G=CA1260703892SPRc.468G= (p.Ser156=)
n.413G=
2g.72888477G>TCA426759587SPRc.468G>T (p.Ser156=)
n.413G>T
COSMIC
2g.72888478T>ACA347231806SPRc.469T>A (p.Ser157Thr)
n.414T>A
2g.72888478T>CCA347231807SPRc.469T>C (p.Ser157Pro)
n.414T>C
2g.72888478T>GCA347231809SPRc.469T>G (p.Ser157Ala)
n.414T>G
2g.72888479C>ACA347231811SPRc.470C>A (p.Ser157Tyr)
n.415C>A
2g.72888479C=CA1260703893SPRc.470C= (p.Ser157=)
n.415C=
2g.72888479C>GCA347231815SPRc.470C>G (p.Ser157Cys)
n.415C>G
dbSNP gnomAD v4
2g.72888479C>TCA347231813SPRc.470C>T (p.Ser157Phe)
n.415C>T
dbSNP gnomAD v2
2g.72888480C>ACA426759592SPRc.471C>A (p.Ser157=)
n.416C>A
2g.72888480C=CA1260703894SPRc.471C= (p.Ser157=)
n.416C=
2g.72888480C>GCA426759593SPRc.471C>G (p.Ser157=)
n.416C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.72888480C>TCA1708962SPRc.471C>T (p.Ser157=)
n.416C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72888481C>ACA347231818SPRc.472C>A (p.Leu158Ile)
n.417C>A
2g.72888481C=CA1260703895SPRc.472C= (p.Leu158=)
n.417C=
2g.72888481C>GCA347231819SPRc.472C>G (p.Leu158Val)
n.417C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.72888481C>TCA347231821SPRc.472C>T (p.Leu158Phe)
n.417C>T
ClinVar dbSNP
2g.72888482T>ACA347231823SPRc.473T>A (p.Leu158His)
n.418T>A
2g.72888482T>CCA347231825SPRc.473T>C (p.Leu158Pro)
n.418T>C
2g.72888482T>GCA347231826SPRc.473T>G (p.Leu158Arg)
n.418T>G
2g.72888483C>ACA426759603SPRc.474C>A (p.Leu158=)
n.419C>A
2g.72888483C>GCA426759604SPRc.474C>G (p.Leu158=)
n.419C>G
2g.72888483C>TCA426759606SPRc.474C>T (p.Leu158=)
n.419C>T
2g.72888483_72888485delinsCTGCA1260703896SPRc.474_476delinsCTG (p.Leu158=)
n.419_421delinsCTG
2g.72888484T>ACA347231827SPRc.475T>A (p.Cys159Ser)
n.420T>A
2g.72888484T>CCA347231828SPRc.475T>C (p.Cys159Arg)
n.420T>C
2g.72888484T>GCA347231829SPRc.475T>G (p.Cys159Gly)
n.420T>G
2g.72888486_72888487delCA1708963SPRc.477_478del (p.Ala160ProfsTer18)
n.422_423del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72888485G>ACA347231831SPRc.476G>A (p.Cys159Tyr)
n.421G>A
2g.72888485G>CCA347231832SPRc.476G>C (p.Cys159Ser)
n.421G>C
2g.72888485G>TCA347231830SPRc.476G>T (p.Cys159Phe)
n.421G>T
2g.72888486T>ACA347231834SPRc.477T>A (p.Cys159Ter)
n.422T>A
dbSNP
2g.72888486T>CCA426759615SPRc.477T>C (p.Cys159=)
n.422T>C
ClinVar dbSNP
2g.72888486T>GCA347231833SPRc.477T>G (p.Cys159Trp)
n.422T>G
2g.72888486T=CA1260703897SPRc.477T= (p.Cys159=)
n.422T=
2g.72888487G>ACA347231835SPRc.478G>A (p.Ala160Thr)
n.423G>A
2g.72888487G>CCA347231836SPRc.478G>C (p.Ala160Pro)
n.423G>C
2g.72888487G>TCA347231837SPRc.478G>T (p.Ala160Ser)
n.423G>T
2g.72888488C>ACA347231838SPRc.479C>A (p.Ala160Asp)
n.424C>A
2g.72888488C>GCA347231839SPRc.479C>G (p.Ala160Gly)
n.424C>G
2g.72888488C>TCA347231840SPRc.479C>T (p.Ala160Val)
n.424C>T
2g.72888489C>ACA426759621SPRc.480C>A (p.Ala160=)
n.425C>A
2g.72888489C=CA1260703898SPRc.480C= (p.Ala160=)
n.425C=
2g.72888489C>GCA426759622SPRc.480C>G (p.Ala160=)
n.425C>G
2g.72888489C>TCA1708964SPRc.480C>T (p.Ala160=)
n.425C>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.72888490C>ACA347231841SPRc.481C>A (p.Leu161Met)
n.426C>A
2g.72888490C=CA1260703899SPRc.481C= (p.Leu161=)
n.426C=
2g.72888490C>GCA347231842SPRc.481C>G (p.Leu161Val)
n.426C>G
2g.72888490C>TCA426759626SPRc.481C>T (p.Leu161=)
n.426C>T
dbSNP gnomAD v4
2g.72888491T>ACA347231843SPRc.482T>A (p.Leu161Gln)
n.427T>A
2g.72888491T>CCA347231844SPRc.482T>C (p.Leu161Pro)
n.427T>C
2g.72888491T>GCA347231845SPRc.482T>G (p.Leu161Arg)
n.427T>G
ClinVar dbSNP gnomAD v4
2g.72888491T=CA1260703900SPRc.482T= (p.Leu161=)
n.427T=
2g.72888492G>ACA1708965SPRc.483G>A (p.Leu161=)
n.428G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.72888492G>CCA426759631SPRc.483G>C (p.Leu161=)
n.428G>C
2g.72888492G=CA1260703901SPRc.483G= (p.Leu161=)
n.428G=
2g.72888492G>TCA426759628SPRc.483G>T (p.Leu161=)
n.428G>T
2g.72888493C>ACA347231849SPRc.484C>A (p.Gln162Lys)
n.429C>A
2g.72888493C>GCA347231847SPRc.484C>G (p.Gln162Glu)
n.429C>G
2g.72888493C>TCA347231848SPRc.484C>T (p.Gln162Ter)
n.429C>T
2g.72888494A>CCA347231850SPRc.485A>C (p.Gln162Pro)
n.430A>C
2g.72888494A>GCA347231851SPRc.485A>G (p.Gln162Arg)
n.430A>G
2g.72888494A>TCA347231852SPRc.485A>T (p.Gln162Leu)
n.430A>T
2g.72888495A=CA1260703902SPRc.486A= (p.Gln162=)
n.431A=
2g.72888495A>CCA347231853SPRc.486A>C (p.Gln162His)
n.431A>C
gnomAD v4
2g.72888495A>GCA1708966SPRc.486A>G (p.Gln162=)
n.431A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72888495A>TCA347231854SPRc.486A>T (p.Gln162His)
n.431A>T
2g.72888496C>ACA347231855SPRc.487C>A (p.Pro163Thr)
n.432C>A
2g.72888496C>GCA347231856SPRc.487C>G (p.Pro163Ala)
n.432C>G
2g.72888496C>TCA347231857SPRc.487C>T (p.Pro163Ser)
n.432C>T
2g.72888497C>ACA347231858SPRc.488C>A (p.Pro163His)
n.433C>A
2g.72888497C=CA1260703903SPRc.488C= (p.Pro163=)
n.433C=
2g.72888497C>GCA347231859SPRc.488C>G (p.Pro163Arg)
n.433C>G
2g.72888497C>TCA122794SPRc.488C>T (p.Pro163Leu)
n.433C>T
ClinVar dbSNP gnomAD v4
2g.72888498T>ACA426759641SPRc.489T>A (p.Pro163=)
n.434T>A
2g.72888498T>CCA426759642SPRc.489T>C (p.Pro163=)
n.434T>C
2g.72888498T>GCA426759644SPRc.489T>G (p.Pro163=)
n.434T>G
2g.72888499T>ACA347231860SPRc.490T>A (p.Phe164Ile)
n.435T>A
2g.72888499T>CCA347231862SPRc.490T>C (p.Phe164Leu)
n.435T>C
2g.72888499T>GCA347231861SPRc.490T>G (p.Phe164Val)
n.435T>G
2g.72888499_72888526delCA2577001984SPRc.490_517del (p.Phe164GlufsTer19)
n.435_462del
2g.72888500T>ACA347231863SPRc.491T>A (p.Phe164Tyr)
n.436T>A
2g.72888500T>CCA347231864SPRc.491T>C (p.Phe164Ser)
n.436T>C
dbSNP gnomAD v2 gnomAD v4
2g.72888500T>GCA347231865SPRc.491T>G (p.Phe164Cys)
n.436T>G
2g.72888500T=CA1260703905SPRc.491T= (p.Phe164=)
n.436T=
2g.72888500_72888518delinsTCAAAGGCTGGGCGCTGTACA1260703904SPRc.491_509delinsTCAAAGGCTGGGCGCTGTA (p.Phe164=)
n.436_454delinsTCAAAGGCTGGGCGCTGTA
2g.72888501C>ACA347231866SPRc.492C>A (p.Phe164Leu)
n.437C>A
2g.72888501C>GCA347231867SPRc.492C>G (p.Phe164Leu)
n.437C>G
2g.72888501C>TCA426759648SPRc.492C>T (p.Phe164=)
n.437C>T
2g.72888502_72888519delCA1708967SPRc.493_510del (p.Lys165_Tyr170del)
n.438_455del
dbSNP ExAC gnomAD v2 gnomAD v4
2g.72888502A=CA1260703906SPRc.493A= (p.Lys165=)
n.438A=
2g.72888502A>CCA1708968SPRc.493A>C (p.Lys165Gln)
n.438A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72888502A>GCA347231868SPRc.493A>G (p.Lys165Glu)
n.438A>G
2g.72888502A>TCA347231869SPRc.493A>T (p.Lys165Ter)
n.438A>T
2g.72888510_72888535delCA2522485668SPRc.501_526del (p.Trp167CysfsTer3)
n.446_471del
gnomAD v4
2g.72888503A>CCA347231870SPRc.494A>C (p.Lys165Thr)
n.439A>C
2g.72888503A>GCA347231871SPRc.494A>G (p.Lys165Arg)
n.439A>G
2g.72888503A>TCA347231872SPRc.494A>T (p.Lys165Ile)
n.439A>T
2g.72888504A>CCA347231874SPRc.495A>C (p.Lys165Asn)
n.440A>C
2g.72888504A>GCA426759656SPRc.495A>G (p.Lys165=)
n.440A>G
2g.72888504A>TCA347231873SPRc.495A>T (p.Lys165Asn)
n.440A>T
2g.72888505G>ACA347231875SPRc.496G>A (p.Gly166Ser)
n.441G>A
2g.72888505G>CCA347231876SPRc.496G>C (p.Gly166Arg)
n.441G>C
2g.72888505G=CA1260703907SPRc.496G= (p.Gly166=)
n.441G=
2g.72888505G>TCA1708969SPRc.496G>T (p.Gly166Cys)
n.441G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.72888506G>ACA347231877SPRc.497G>A (p.Gly166Asp)
n.442G>A
ClinVar dbSNP gnomAD v4
2g.72888506G>CCA347231878SPRc.497G>C (p.Gly166Ala)
n.442G>C
2g.72888506G=CA1260703908SPRc.497G= (p.Gly166=)
n.442G=
2g.72888506G>TCA347231879SPRc.497G>T (p.Gly166Val)
n.442G>T
2g.72888507C>ACA426759660SPRc.498C>A (p.Gly166=)
n.443C>A
2g.72888507C=CA1260703909SPRc.498C= (p.Gly166=)
n.443C=
2g.72888507C>GCA1708970SPRc.498C>G (p.Gly166=)
n.443C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.72888507C>TCA426759661SPRc.498C>T (p.Gly166=)
n.443C>T
dbSNP

Number of alleles fetched