Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.137639880G>ACA361048668KLHL3c.1001C>T (p.Pro334Leu)
n.588C>T
c.*335-11443C>T (n.*335-11443C>T)
c.881C>T (p.Pro294Leu)
c.755C>T (p.Pro252Leu)
n.626C>T
c.905C>T (p.Pro302Leu)
 COSMIC
5g.137639880G>CCA361048670KLHL3c.1001C>G (p.Pro334Arg)
n.588C>G
c.*335-11443C>G (n.*335-11443C>G)
c.881C>G (p.Pro294Arg)
c.755C>G (p.Pro252Arg)
n.626C>G
c.905C>G (p.Pro302Arg)
5g.137639880G=CA1585498417KLHL3c.1001C= (p.Pro334=)
n.588C=
c.*335-11443C= (n.*335-11443C=)
c.881C= (p.Pro294=)
c.755C= (p.Pro252=)
n.626C=
c.905C= (p.Pro302=)
5g.137639880G>TCA128104500KLHL3c.1001C>A (p.Pro334His)
n.588C>A
c.*335-11443C>A (n.*335-11443C>A)
c.881C>A (p.Pro294His)
c.755C>A (p.Pro252His)
n.626C>A
c.905C>A (p.Pro302His)
 dbSNP
5g.137639881G>ACA361048672KLHL3c.1000C>T (p.Pro334Ser)
n.587C>T
c.*335-11444C>T (n.*335-11444C>T)
c.880C>T (p.Pro294Ser)
c.754C>T (p.Pro252Ser)
n.625C>T
c.904C>T (p.Pro302Ser)
 ClinVar dbSNP COSMIC
5g.137639881G>CCA361048673KLHL3c.1000C>G (p.Pro334Ala)
n.587C>G
c.*335-11444C>G (n.*335-11444C>G)
c.880C>G (p.Pro294Ala)
c.754C>G (p.Pro252Ala)
n.625C>G
c.904C>G (p.Pro302Ala)
5g.137639881G>TCA361048675KLHL3c.1000C>A (p.Pro334Thr)
n.587C>A
c.*335-11444C>A (n.*335-11444C>A)
c.880C>A (p.Pro294Thr)
c.754C>A (p.Pro252Thr)
n.625C>A
c.904C>A (p.Pro302Thr)
5g.137639882A=CA1585498421KLHL3c.999T= (p.Leu333=)
n.586T=
c.*335-11445T= (n.*335-11445T=)
c.879T= (p.Leu293=)
c.753T= (p.Leu251=)
n.624T=
c.903T= (p.Leu301=)
5g.137639882A>CCA446561508KLHL3c.999T>G (p.Leu333=)
n.586T>G
c.*335-11445T>G (n.*335-11445T>G)
c.879T>G (p.Leu293=)
c.753T>G (p.Leu251=)
n.624T>G
c.903T>G (p.Leu301=)
5g.137639882A>GCA3422324KLHL3c.999T>C (p.Leu333=)
n.586T>C
c.*335-11445T>C (n.*335-11445T>C)
c.879T>C (p.Leu293=)
c.753T>C (p.Leu251=)
n.624T>C
c.903T>C (p.Leu301=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137639882A>TCA446561509KLHL3c.999T>A (p.Leu333=)
n.586T>A
c.*335-11445T>A (n.*335-11445T>A)
c.879T>A (p.Leu293=)
c.753T>A (p.Leu251=)
n.624T>A
c.903T>A (p.Leu301=)
 gnomAD v4
5g.137639883A>CCA361048678KLHL3c.998T>G (p.Leu333Arg)
n.585T>G
c.*335-11446T>G (n.*335-11446T>G)
c.878T>G (p.Leu293Arg)
c.752T>G (p.Leu251Arg)
n.623T>G
c.902T>G (p.Leu301Arg)
5g.137639883A>GCA361048680KLHL3c.998T>C (p.Leu333Pro)
n.585T>C
c.*335-11446T>C (n.*335-11446T>C)
c.878T>C (p.Leu293Pro)
c.752T>C (p.Leu251Pro)
n.623T>C
c.902T>C (p.Leu301Pro)
5g.137639883A>TCA361048682KLHL3c.998T>A (p.Leu333His)
n.585T>A
c.*335-11446T>A (n.*335-11446T>A)
c.878T>A (p.Leu293His)
c.752T>A (p.Leu251His)
n.623T>A
c.902T>A (p.Leu301His)
5g.137639884G>ACA361048683KLHL3c.997C>T (p.Leu333Phe)
n.584C>T
c.*335-11447C>T (n.*335-11447C>T)
c.877C>T (p.Leu293Phe)
c.751C>T (p.Leu251Phe)
n.622C>T
c.901C>T (p.Leu301Phe)
5g.137639884G>CCA361048685KLHL3c.997C>G (p.Leu333Val)
n.584C>G
c.*335-11447C>G (n.*335-11447C>G)
c.877C>G (p.Leu293Val)
c.751C>G (p.Leu251Val)
n.622C>G
c.901C>G (p.Leu301Val)
5g.137639884G>TCA361048687KLHL3c.997C>A (p.Leu333Ile)
n.584C>A
c.*335-11447C>A (n.*335-11447C>A)
c.877C>A (p.Leu293Ile)
c.751C>A (p.Leu251Ile)
n.622C>A
c.901C>A (p.Leu301Ile)
5g.137639885C>ACA361048689KLHL3c.996G>T (p.Glu332Asp)
n.583G>T
c.*335-11448G>T (n.*335-11448G>T)
c.876G>T (p.Glu292Asp)
c.750G>T (p.Glu250Asp)
n.621G>T
c.900G>T (p.Glu300Asp)
5g.137639885C>GCA361048691KLHL3c.996G>C (p.Glu332Asp)
n.583G>C
c.*335-11448G>C (n.*335-11448G>C)
c.876G>C (p.Glu292Asp)
c.750G>C (p.Glu250Asp)
n.621G>C
c.900G>C (p.Glu300Asp)
5g.137639885C>TCA446561510KLHL3c.996G>A (p.Glu332=)
n.583G>A
c.*335-11448G>A (n.*335-11448G>A)
c.876G>A (p.Glu292=)
c.750G>A (p.Glu250=)
n.621G>A
c.900G>A (p.Glu300=)
 gnomAD v4
5g.137639886T>ACA361048693KLHL3c.995A>T (p.Glu332Val)
n.582A>T
c.*335-11449A>T (n.*335-11449A>T)
c.875A>T (p.Glu292Val)
c.749A>T (p.Glu250Val)
n.620A>T
c.899A>T (p.Glu300Val)
5g.137639886T>CCA361048696KLHL3c.995A>G (p.Glu332Gly)
n.582A>G
c.*335-11449A>G (n.*335-11449A>G)
c.875A>G (p.Glu292Gly)
c.749A>G (p.Glu250Gly)
n.620A>G
c.899A>G (p.Glu300Gly)
5g.137639886T>GCA361048698KLHL3c.995A>C (p.Glu332Ala)
n.582A>C
c.*335-11449A>C (n.*335-11449A>C)
c.875A>C (p.Glu292Ala)
c.749A>C (p.Glu250Ala)
n.620A>C
c.899A>C (p.Glu300Ala)
5g.137639887C>ACA361048699KLHL3c.994G>T (p.Glu332Ter)
n.581G>T
c.*335-11450G>T (n.*335-11450G>T)
c.874G>T (p.Glu292Ter)
c.748G>T (p.Glu250Ter)
n.619G>T
c.898G>T (p.Glu300Ter)
5g.137639887C>GCA361048701KLHL3c.994G>C (p.Glu332Gln)
n.581G>C
c.*335-11450G>C (n.*335-11450G>C)
c.874G>C (p.Glu292Gln)
c.748G>C (p.Glu250Gln)
n.619G>C
c.898G>C (p.Glu300Gln)
5g.137639887C>TCA361048703KLHL3c.994G>A (p.Glu332Lys)
n.581G>A
c.*335-11450G>A (n.*335-11450G>A)
c.874G>A (p.Glu292Lys)
c.748G>A (p.Glu250Lys)
n.619G>A
c.898G>A (p.Glu300Lys)
5g.137639888A>CCA446561514KLHL3c.993T>G (p.Ala331=)
n.580T>G
c.*335-11451T>G (n.*335-11451T>G)
c.873T>G (p.Ala291=)
c.747T>G (p.Ala249=)
n.618T>G
c.897T>G (p.Ala299=)
 gnomAD v4
5g.137639888A>GCA446561515KLHL3c.993T>C (p.Ala331=)
n.580T>C
c.*335-11451T>C (n.*335-11451T>C)
c.873T>C (p.Ala291=)
c.747T>C (p.Ala249=)
n.618T>C
c.897T>C (p.Ala299=)
5g.137639888A>TCA446561516KLHL3c.993T>A (p.Ala331=)
n.580T>A
c.*335-11451T>A (n.*335-11451T>A)
c.873T>A (p.Ala291=)
c.747T>A (p.Ala249=)
n.618T>A
c.897T>A (p.Ala299=)
5g.137639889G>ACA361048705KLHL3c.992C>T (p.Ala331Val)
n.579C>T
c.*335-11452C>T (n.*335-11452C>T)
c.872C>T (p.Ala291Val)
c.746C>T (p.Ala249Val)
n.617C>T
c.896C>T (p.Ala299Val)
5g.137639889G>CCA361048707KLHL3c.992C>G (p.Ala331Gly)
n.579C>G
c.*335-11452C>G (n.*335-11452C>G)
c.872C>G (p.Ala291Gly)
c.746C>G (p.Ala249Gly)
n.617C>G
c.896C>G (p.Ala299Gly)
5g.137639889G>TCA361048708KLHL3c.992C>A (p.Ala331Asp)
n.579C>A
c.*335-11452C>A (n.*335-11452C>A)
c.872C>A (p.Ala291Asp)
c.746C>A (p.Ala249Asp)
n.617C>A
c.896C>A (p.Ala299Asp)
5g.137639890C>ACA3422325KLHL3c.991G>T (p.Ala331Ser)
n.578G>T
c.*335-11453G>T (n.*335-11453G>T)
c.871G>T (p.Ala291Ser)
c.745G>T (p.Ala249Ser)
n.616G>T
c.895G>T (p.Ala299Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137639890C=CA1585498427KLHL3c.991G= (p.Ala331=)
n.578G=
c.*335-11453G= (n.*335-11453G=)
c.871G= (p.Ala291=)
c.745G= (p.Ala249=)
n.616G=
c.895G= (p.Ala299=)
5g.137639890C>GCA361048710KLHL3c.991G>C (p.Ala331Pro)
n.578G>C
c.*335-11453G>C (n.*335-11453G>C)
c.871G>C (p.Ala291Pro)
c.745G>C (p.Ala249Pro)
n.616G>C
c.895G>C (p.Ala299Pro)
5g.137639890C>TCA361048711KLHL3c.991G>A (p.Ala331Thr)
n.578G>A
c.*335-11453G>A (n.*335-11453G>A)
c.871G>A (p.Ala291Thr)
c.745G>A (p.Ala249Thr)
n.616G>A
c.895G>A (p.Ala299Thr)
5g.137639891A>CCA361048713KLHL3c.990T>G (p.Ile330Met)
n.577T>G
c.*335-11454T>G (n.*335-11454T>G)
c.870T>G (p.Ile290Met)
c.744T>G (p.Ile248Met)
n.615T>G
c.894T>G (p.Ile298Met)
5g.137639891A>GCA446561524KLHL3c.990T>C (p.Ile330=)
n.577T>C
c.*335-11454T>C (n.*335-11454T>C)
c.870T>C (p.Ile290=)
c.744T>C (p.Ile248=)
n.615T>C
c.894T>C (p.Ile298=)
5g.137639891A>TCA446561526KLHL3c.990T>A (p.Ile330=)
n.577T>A
c.*335-11454T>A (n.*335-11454T>A)
c.870T>A (p.Ile290=)
c.744T>A (p.Ile248=)
n.615T>A
c.894T>A (p.Ile298=)
5g.137639892A>CCA361048719KLHL3c.989T>G (p.Ile330Ser)
n.576T>G
c.*335-11455T>G (n.*335-11455T>G)
c.869T>G (p.Ile290Ser)
c.743T>G (p.Ile248Ser)
n.614T>G
c.893T>G (p.Ile298Ser)
5g.137639892A>GCA361048715KLHL3c.989T>C (p.Ile330Thr)
n.576T>C
c.*335-11455T>C (n.*335-11455T>C)
c.869T>C (p.Ile290Thr)
c.743T>C (p.Ile248Thr)
n.614T>C
c.893T>C (p.Ile298Thr)
5g.137639892A>TCA361048717KLHL3c.989T>A (p.Ile330Asn)
n.576T>A
c.*335-11455T>A (n.*335-11455T>A)
c.869T>A (p.Ile290Asn)
c.743T>A (p.Ile248Asn)
n.614T>A
c.893T>A (p.Ile298Asn)
5g.137639893T>ACA361048721KLHL3c.988A>T (p.Ile330Phe)
n.575A>T
c.*335-11456A>T (n.*335-11456A>T)
c.868A>T (p.Ile290Phe)
c.742A>T (p.Ile248Phe)
n.613A>T
c.892A>T (p.Ile298Phe)
5g.137639893T>CCA3422326KLHL3c.988A>G (p.Ile330Val)
n.575A>G
c.*335-11456A>G (n.*335-11456A>G)
c.868A>G (p.Ile290Val)
c.742A>G (p.Ile248Val)
n.613A>G
c.892A>G (p.Ile298Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137639893T>GCA361048723KLHL3c.988A>C (p.Ile330Leu)
n.575A>C
c.*335-11456A>C (n.*335-11456A>C)
c.868A>C (p.Ile290Leu)
c.742A>C (p.Ile248Leu)
n.613A>C
c.892A>C (p.Ile298Leu)
5g.137639893T=CA1585498432KLHL3c.988A= (p.Ile330=)
n.575A=
c.*335-11456A= (n.*335-11456A=)
c.868A= (p.Ile290=)
c.742A= (p.Ile248=)
n.613A=
c.892A= (p.Ile298=)
5g.137639894C>ACA361048725KLHL3c.987G>T (p.Gln329His)
n.574G>T
c.*335-11457G>T (n.*335-11457G>T)
c.867G>T (p.Gln289His)
c.741G>T (p.Gln247His)
n.612G>T
c.891G>T (p.Gln297His)
5g.137639894C>GCA361048727KLHL3c.987G>C (p.Gln329His)
n.574G>C
c.*335-11457G>C (n.*335-11457G>C)
c.867G>C (p.Gln289His)
c.741G>C (p.Gln247His)
n.612G>C
c.891G>C (p.Gln297His)
5g.137639894C>TCA446561533KLHL3c.987G>A (p.Gln329=)
n.574G>A
c.*335-11457G>A (n.*335-11457G>A)
c.867G>A (p.Gln289=)
c.741G>A (p.Gln247=)
n.612G>A
c.891G>A (p.Gln297=)
5g.137639895T>ACA361048730KLHL3c.986A>T (p.Gln329Leu)
n.573A>T
c.*335-11458A>T (n.*335-11458A>T)
c.866A>T (p.Gln289Leu)
c.740A>T (p.Gln247Leu)
n.611A>T
c.890A>T (p.Gln297Leu)
5g.137639895T>CCA361048731KLHL3c.986A>G (p.Gln329Arg)
n.573A>G
c.*335-11458A>G (n.*335-11458A>G)
c.866A>G (p.Gln289Arg)
c.740A>G (p.Gln247Arg)
n.611A>G
c.890A>G (p.Gln297Arg)
 gnomAD v4
5g.137639895T>GCA361048733KLHL3c.986A>C (p.Gln329Pro)
n.573A>C
c.*335-11458A>C (n.*335-11458A>C)
c.866A>C (p.Gln289Pro)
c.740A>C (p.Gln247Pro)
n.611A>C
c.890A>C (p.Gln297Pro)
5g.137639896G>ACA361048735KLHL3c.985C>T (p.Gln329Ter)
n.572C>T
c.*335-11459C>T (n.*335-11459C>T)
c.865C>T (p.Gln289Ter)
c.739C>T (p.Gln247Ter)
n.610C>T
c.889C>T (p.Gln297Ter)
 COSMIC
5g.137639896G>CCA361048736KLHL3c.985C>G (p.Gln329Glu)
n.572C>G
c.*335-11459C>G (n.*335-11459C>G)
c.865C>G (p.Gln289Glu)
c.739C>G (p.Gln247Glu)
n.610C>G
c.889C>G (p.Gln297Glu)
 gnomAD v4
5g.137639896G>TCA361048738KLHL3c.985C>A (p.Gln329Lys)
n.572C>A
c.*335-11459C>A (n.*335-11459C>A)
c.865C>A (p.Gln289Lys)
c.739C>A (p.Gln247Lys)
n.610C>A
c.889C>A (p.Gln297Lys)
5g.137639897A>CCA361048742KLHL3c.984T>G (p.Asp328Glu)
n.571T>G
c.*335-11460T>G (n.*335-11460T>G)
c.864T>G (p.Asp288Glu)
c.738T>G (p.Asp246Glu)
n.609T>G
c.888T>G (p.Asp296Glu)
5g.137639897A>GCA446561535KLHL3c.984T>C (p.Asp328=)
n.571T>C
c.*335-11460T>C (n.*335-11460T>C)
c.864T>C (p.Asp288=)
c.738T>C (p.Asp246=)
n.609T>C
c.888T>C (p.Asp296=)
5g.137639897A>TCA361048740KLHL3c.984T>A (p.Asp328Glu)
n.571T>A
c.*335-11460T>A (n.*335-11460T>A)
c.864T>A (p.Asp288Glu)
c.738T>A (p.Asp246Glu)
n.609T>A
c.888T>A (p.Asp296Glu)
5g.137639898T>ACA361048744KLHL3c.983A>T (p.Asp328Val)
n.570A>T
c.*335-11461A>T (n.*335-11461A>T)
c.863A>T (p.Asp288Val)
c.737A>T (p.Asp246Val)
n.608A>T
c.887A>T (p.Asp296Val)
 gnomAD v4
5g.137639898T>CCA361048746KLHL3c.983A>G (p.Asp328Gly)
n.570A>G
c.*335-11461A>G (n.*335-11461A>G)
c.863A>G (p.Asp288Gly)
c.737A>G (p.Asp246Gly)
n.608A>G
c.887A>G (p.Asp296Gly)
5g.137639898T>GCA361048747KLHL3c.983A>C (p.Asp328Ala)
n.570A>C
c.*335-11461A>C (n.*335-11461A>C)
c.863A>C (p.Asp288Ala)
c.737A>C (p.Asp246Ala)
n.608A>C
c.887A>C (p.Asp296Ala)
5g.137639899C>ACA361048750KLHL3c.982G>T (p.Asp328Tyr)
n.569G>T
c.*335-11462G>T (n.*335-11462G>T)
c.862G>T (p.Asp288Tyr)
c.736G>T (p.Asp246Tyr)
n.607G>T
c.886G>T (p.Asp296Tyr)
5g.137639899C>GCA361048751KLHL3c.982G>C (p.Asp328His)
n.569G>C
c.*335-11462G>C (n.*335-11462G>C)
c.862G>C (p.Asp288His)
c.736G>C (p.Asp246His)
n.607G>C
c.886G>C (p.Asp296His)
5g.137639899C>TCA361048753KLHL3c.982G>A (p.Asp328Asn)
n.569G>A
c.*335-11462G>A (n.*335-11462G>A)
c.862G>A (p.Asp288Asn)
c.736G>A (p.Asp246Asn)
n.607G>A
c.886G>A (p.Asp296Asn)
5g.137639900C>ACA361048755KLHL3c.981G>T (p.Trp327Cys)
n.568G>T
c.*335-11463G>T (n.*335-11463G>T)
c.861G>T (p.Trp287Cys)
c.735G>T (p.Trp245Cys)
n.606G>T
c.885G>T (p.Trp295Cys)
5g.137639900C>GCA361048757KLHL3c.981G>C (p.Trp327Cys)
n.568G>C
c.*335-11463G>C (n.*335-11463G>C)
c.861G>C (p.Trp287Cys)
c.735G>C (p.Trp245Cys)
n.606G>C
c.885G>C (p.Trp295Cys)
5g.137639900C>TCA361048758KLHL3c.981G>A (p.Trp327Ter)
n.568G>A
c.*335-11463G>A (n.*335-11463G>A)
c.861G>A (p.Trp287Ter)
c.735G>A (p.Trp245Ter)
n.606G>A
c.885G>A (p.Trp295Ter)
5g.137639901C>ACA361048760KLHL3c.980G>T (p.Trp327Leu)
n.567G>T
c.*335-11464G>T (n.*335-11464G>T)
c.860G>T (p.Trp287Leu)
c.734G>T (p.Trp245Leu)
n.605G>T
c.884G>T (p.Trp295Leu)
5g.137639901C>GCA361048761KLHL3c.980G>C (p.Trp327Ser)
n.567G>C
c.*335-11464G>C (n.*335-11464G>C)
c.860G>C (p.Trp287Ser)
c.734G>C (p.Trp245Ser)
n.605G>C
c.884G>C (p.Trp295Ser)
5g.137639901C>TCA361048763KLHL3c.980G>A (p.Trp327Ter)
n.567G>A
c.*335-11464G>A (n.*335-11464G>A)
c.860G>A (p.Trp287Ter)
c.734G>A (p.Trp245Ter)
n.605G>A
c.884G>A (p.Trp295Ter)
5g.137639902A>CCA361048769KLHL3c.979T>G (p.Trp327Gly)
n.566T>G
c.*335-11465T>G (n.*335-11465T>G)
c.859T>G (p.Trp287Gly)
c.733T>G (p.Trp245Gly)
n.604T>G
c.883T>G (p.Trp295Gly)
5g.137639902A>GCA361048767KLHL3c.979T>C (p.Trp327Arg)
n.566T>C
c.*335-11465T>C (n.*335-11465T>C)
c.859T>C (p.Trp287Arg)
c.733T>C (p.Trp245Arg)
n.604T>C
c.883T>C (p.Trp295Arg)
5g.137639902A>TCA361048765KLHL3c.979T>A (p.Trp327Arg)
n.566T>A
c.*335-11465T>A (n.*335-11465T>A)
c.859T>A (p.Trp287Arg)
c.733T>A (p.Trp245Arg)
n.604T>A
c.883T>A (p.Trp295Arg)
5g.137639903C>ACA446561539KLHL3c.978G>T (p.Arg326=)
n.565G>T
c.*335-11466G>T (n.*335-11466G>T)
c.858G>T (p.Arg286=)
c.732G>T (p.Arg244=)
n.603G>T
c.882G>T (p.Arg294=)
5g.137639903C>GCA446561537KLHL3c.978G>C (p.Arg326=)
n.565G>C
c.*335-11466G>C (n.*335-11466G>C)
c.858G>C (p.Arg286=)
c.732G>C (p.Arg244=)
n.603G>C
c.882G>C (p.Arg294=)
5g.137639903C>TCA446561538KLHL3c.978G>A (p.Arg326=)
n.565G>A
c.*335-11466G>A (n.*335-11466G>A)
c.858G>A (p.Arg286=)
c.732G>A (p.Arg244=)
n.603G>A
c.882G>A (p.Arg294=)
5g.137639903_137639904delCA2768566574KLHL3c.977_978del (p.Arg326LeufsTer6)
n.564_565del
c.*335-11467_*335-11466del (n.*335-11467_*335-11466del)
c.857_858del (p.Arg286LeufsTer6)
c.731_732del (p.Arg244LeufsTer6)
n.602_603del
c.881_882del (p.Arg294LeufsTer6)
5g.137639904C>ACA361048772KLHL3c.977G>T (p.Arg326Leu)
n.564G>T
c.*335-11467G>T (n.*335-11467G>T)
c.857G>T (p.Arg286Leu)
c.731G>T (p.Arg244Leu)
n.602G>T
c.881G>T (p.Arg294Leu)
5g.137639904C=CA1585498439KLHL3c.977G= (p.Arg326=)
n.564G=
c.*335-11467G= (n.*335-11467G=)
c.857G= (p.Arg286=)
c.731G= (p.Arg244=)
n.602G=
c.881G= (p.Arg294=)
5g.137639904C>GCA361048773KLHL3c.977G>C (p.Arg326Pro)
n.564G>C
c.*335-11467G>C (n.*335-11467G>C)
c.857G>C (p.Arg286Pro)
c.731G>C (p.Arg244Pro)
n.602G>C
c.881G>C (p.Arg294Pro)
5g.137639904C>TCA3422327KLHL3c.977G>A (p.Arg326Gln)
n.564G>A
c.*335-11467G>A (n.*335-11467G>A)
c.857G>A (p.Arg286Gln)
c.731G>A (p.Arg244Gln)
n.602G>A
c.881G>A (p.Arg294Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639905G>ACA361048775KLHL3c.976C>T (p.Arg326Trp)
n.563C>T
c.*335-11468C>T (n.*335-11468C>T)
c.856C>T (p.Arg286Trp)
c.730C>T (p.Arg244Trp)
n.601C>T
c.880C>T (p.Arg294Trp)
 ClinVar dbSNP gnomAD v4
5g.137639905G>CCA361048777KLHL3c.976C>G (p.Arg326Gly)
n.563C>G
c.*335-11468C>G (n.*335-11468C>G)
c.856C>G (p.Arg286Gly)
c.730C>G (p.Arg244Gly)
n.601C>G
c.880C>G (p.Arg294Gly)
5g.137639905G=CA1585498441KLHL3c.976C= (p.Arg326=)
n.563C=
c.*335-11468C= (n.*335-11468C=)
c.856C= (p.Arg286=)
c.730C= (p.Arg244=)
n.601C=
c.880C= (p.Arg294=)
5g.137639905G>TCA446561540KLHL3c.976C>A (p.Arg326=)
n.563C>A
c.*335-11468C>A (n.*335-11468C>A)
c.856C>A (p.Arg286=)
c.730C>A (p.Arg244=)
n.601C>A
c.880C>A (p.Arg294=)
5g.137639905_137639906insTTCA2768566575KLHL3c.975_976insAA (p.Arg326AsnfsTer?)
n.562_563insAA
c.*335-11469_*335-11468insAA (n.*335-11469_*335-11468insAA)
c.855_856insAA (p.Arg286AsnfsTer?)
c.729_730insAA (p.Arg244AsnfsTer?)
n.600_601insAA
c.879_880insAA (p.Arg294AsnfsTer?)
5g.137639906G>ACA446561541KLHL3c.975C>T (p.Asp325=)
n.562C>T
c.*335-11469C>T (n.*335-11469C>T)
c.855C>T (p.Asp285=)
c.729C>T (p.Asp243=)
n.600C>T
c.879C>T (p.Asp293=)
5g.137639906G>CCA361048779KLHL3c.975C>G (p.Asp325Glu)
n.562C>G
c.*335-11469C>G (n.*335-11469C>G)
c.855C>G (p.Asp285Glu)
c.729C>G (p.Asp243Glu)
n.600C>G
c.879C>G (p.Asp293Glu)
 gnomAD v4
5g.137639906G>TCA361048781KLHL3c.975C>A (p.Asp325Glu)
n.562C>A
c.*335-11469C>A (n.*335-11469C>A)
c.855C>A (p.Asp285Glu)
c.729C>A (p.Asp243Glu)
n.600C>A
c.879C>A (p.Asp293Glu)
5g.137639907T>ACA361048783KLHL3c.974A>T (p.Asp325Val)
n.561A>T
c.*335-11470A>T (n.*335-11470A>T)
c.854A>T (p.Asp285Val)
c.728A>T (p.Asp243Val)
n.599A>T
c.878A>T (p.Asp293Val)
5g.137639907T>CCA361048785KLHL3c.974A>G (p.Asp325Gly)
n.561A>G
c.*335-11470A>G (n.*335-11470A>G)
c.854A>G (p.Asp285Gly)
c.728A>G (p.Asp243Gly)
n.599A>G
c.878A>G (p.Asp293Gly)
5g.137639907T>GCA361048787KLHL3c.974A>C (p.Asp325Ala)
n.561A>C
c.*335-11470A>C (n.*335-11470A>C)
c.854A>C (p.Asp285Ala)
c.728A>C (p.Asp243Ala)
n.599A>C
c.878A>C (p.Asp293Ala)
5g.137639908C>ACA361048789KLHL3c.973G>T (p.Asp325Tyr)
n.560G>T
c.*335-11471G>T (n.*335-11471G>T)
c.853G>T (p.Asp285Tyr)
c.727G>T (p.Asp243Tyr)
n.598G>T
c.877G>T (p.Asp293Tyr)
5g.137639908C>GCA361048790KLHL3c.973G>C (p.Asp325His)
n.560G>C
c.*335-11471G>C (n.*335-11471G>C)
c.853G>C (p.Asp285His)
c.727G>C (p.Asp243His)
n.598G>C
c.877G>C (p.Asp293His)
5g.137639908C>TCA361048791KLHL3c.973G>A (p.Asp325Asn)
n.560G>A
c.*335-11471G>A (n.*335-11471G>A)
c.853G>A (p.Asp285Asn)
c.727G>A (p.Asp243Asn)
n.598G>A
c.877G>A (p.Asp293Asn)
5g.137639909C>ACA361048792KLHL3c.972G>T (p.Glu324Asp)
n.559G>T
c.*335-11472G>T (n.*335-11472G>T)
c.852G>T (p.Glu284Asp)
c.726G>T (p.Glu242Asp)
n.597G>T
c.876G>T (p.Glu292Asp)
5g.137639909C=CA1585498446KLHL3c.972G= (p.Glu324=)
n.559G=
c.*335-11472G= (n.*335-11472G=)
c.852G= (p.Glu284=)
c.726G= (p.Glu242=)
n.597G=
c.876G= (p.Glu292=)
5g.137639909C>GCA361048793KLHL3c.972G>C (p.Glu324Asp)
n.559G>C
c.*335-11472G>C (n.*335-11472G>C)
c.852G>C (p.Glu284Asp)
c.726G>C (p.Glu242Asp)
n.597G>C
c.876G>C (p.Glu292Asp)
5g.137639909C>TCA446561544KLHL3c.972G>A (p.Glu324=)
n.559G>A
c.*335-11472G>A (n.*335-11472G>A)
c.852G>A (p.Glu284=)
c.726G>A (p.Glu242=)
n.597G>A
c.876G>A (p.Glu292=)
 dbSNP gnomAD v4
5g.137639910T>ACA361048794KLHL3c.971A>T (p.Glu324Val)
n.558A>T
c.*335-11473A>T (n.*335-11473A>T)
c.851A>T (p.Glu284Val)
c.725A>T (p.Glu242Val)
n.596A>T
c.875A>T (p.Glu292Val)
5g.137639910T>CCA361048795KLHL3c.971A>G (p.Glu324Gly)
n.558A>G
c.*335-11473A>G (n.*335-11473A>G)
c.851A>G (p.Glu284Gly)
c.725A>G (p.Glu242Gly)
n.596A>G
c.875A>G (p.Glu292Gly)
5g.137639910T>GCA361048797KLHL3c.971A>C (p.Glu324Ala)
n.558A>C
c.*335-11473A>C (n.*335-11473A>C)
c.851A>C (p.Glu284Ala)
c.725A>C (p.Glu242Ala)
n.596A>C
c.875A>C (p.Glu292Ala)
5g.137639911C>ACA361048798KLHL3c.970G>T (p.Glu324Ter)
n.557G>T
c.*335-11474G>T (n.*335-11474G>T)
c.850G>T (p.Glu284Ter)
c.724G>T (p.Glu242Ter)
n.595G>T
c.874G>T (p.Glu292Ter)
5g.137639911C>GCA361048799KLHL3c.970G>C (p.Glu324Gln)
n.557G>C
c.*335-11474G>C (n.*335-11474G>C)
c.850G>C (p.Glu284Gln)
c.724G>C (p.Glu242Gln)
n.595G>C
c.874G>C (p.Glu292Gln)
5g.137639911C>TCA361048801KLHL3c.970G>A (p.Glu324Lys)
n.557G>A
c.*335-11474G>A (n.*335-11474G>A)
c.850G>A (p.Glu284Lys)
c.724G>A (p.Glu242Lys)
n.595G>A
c.874G>A (p.Glu292Lys)
5g.137639912C>ACA361048804KLHL3c.969G>T (p.Glu323Asp)
n.556G>T
c.*335-11475G>T (n.*335-11475G>T)
c.849G>T (p.Glu283Asp)
c.723G>T (p.Glu241Asp)
n.594G>T
c.873G>T (p.Glu291Asp)
5g.137639912C>GCA361048805KLHL3c.969G>C (p.Glu323Asp)
n.556G>C
c.*335-11475G>C (n.*335-11475G>C)
c.849G>C (p.Glu283Asp)
c.723G>C (p.Glu241Asp)
n.594G>C
c.873G>C (p.Glu291Asp)
5g.137639912C>TCA446561545KLHL3c.969G>A (p.Glu323=)
n.556G>A
c.*335-11475G>A (n.*335-11475G>A)
c.849G>A (p.Glu283=)
c.723G>A (p.Glu241=)
n.594G>A
c.873G>A (p.Glu291=)
5g.137639913T>ACA361048809KLHL3c.968A>T (p.Glu323Val)
n.555A>T
c.*335-11476A>T (n.*335-11476A>T)
c.848A>T (p.Glu283Val)
c.722A>T (p.Glu241Val)
n.593A>T
c.872A>T (p.Glu291Val)
 gnomAD v4
5g.137639913T>CCA361048812KLHL3c.968A>G (p.Glu323Gly)
n.555A>G
c.*335-11476A>G (n.*335-11476A>G)
c.848A>G (p.Glu283Gly)
c.722A>G (p.Glu241Gly)
n.593A>G
c.872A>G (p.Glu291Gly)
5g.137639913T>GCA361048814KLHL3c.968A>C (p.Glu323Ala)
n.555A>C
c.*335-11476A>C (n.*335-11476A>C)
c.848A>C (p.Glu283Ala)
c.722A>C (p.Glu241Ala)
n.593A>C
c.872A>C (p.Glu291Ala)
5g.137639914C>ACA361048817KLHL3c.967G>T (p.Glu323Ter)
n.554G>T
c.*335-11477G>T (n.*335-11477G>T)
c.847G>T (p.Glu283Ter)
c.721G>T (p.Glu241Ter)
n.592G>T
c.871G>T (p.Glu291Ter)
5g.137639914C=CA1585498451KLHL3c.967G= (p.Glu323=)
n.554G=
c.*335-11477G= (n.*335-11477G=)
c.847G= (p.Glu283=)
c.721G= (p.Glu241=)
n.592G=
c.871G= (p.Glu291=)
5g.137639914C>GCA361048821KLHL3c.967G>C (p.Glu323Gln)
n.554G>C
c.*335-11477G>C (n.*335-11477G>C)
c.847G>C (p.Glu283Gln)
c.721G>C (p.Glu241Gln)
n.592G>C
c.871G>C (p.Glu291Gln)
5g.137639914C>TCA3422328KLHL3c.967G>A (p.Glu323Lys)
n.554G>A
c.*335-11477G>A (n.*335-11477G>A)
c.847G>A (p.Glu283Lys)
c.721G>A (p.Glu241Lys)
n.592G>A
c.871G>A (p.Glu291Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.137639915G>ACA3422329KLHL3c.966C>T (p.Phe322=)
n.553C>T
c.*335-11478C>T (n.*335-11478C>T)
c.846C>T (p.Phe282=)
c.720C>T (p.Phe240=)
n.591C>T
c.870C>T (p.Phe290=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639915G>CCA361048828KLHL3c.966C>G (p.Phe322Leu)
n.553C>G
c.*335-11478C>G (n.*335-11478C>G)
c.846C>G (p.Phe282Leu)
c.720C>G (p.Phe240Leu)
n.591C>G
c.870C>G (p.Phe290Leu)
5g.137639915G=CA1585498455KLHL3c.966C= (p.Phe322=)
n.553C=
c.*335-11478C= (n.*335-11478C=)
c.846C= (p.Phe282=)
c.720C= (p.Phe240=)
n.591C=
c.870C= (p.Phe290=)
5g.137639915G>TCA361048831KLHL3c.966C>A (p.Phe322Leu)
n.553C>A
c.*335-11478C>A (n.*335-11478C>A)
c.846C>A (p.Phe282Leu)
c.720C>A (p.Phe240Leu)
n.591C>A
c.870C>A (p.Phe290Leu)
5g.137639916A=CA1585498461KLHL3c.965T= (p.Phe322=)
n.552T=
c.*335-11479T= (n.*335-11479T=)
c.845T= (p.Phe282=)
c.719T= (p.Phe240=)
n.590T=
c.869T= (p.Phe290=)
5g.137639916A>CCA129301KLHL3c.965T>G (p.Phe322Cys)
n.552T>G
c.*335-11479T>G (n.*335-11479T>G)
c.845T>G (p.Phe282Cys)
c.719T>G (p.Phe240Cys)
n.590T>G
c.869T>G (p.Phe290Cys)
 ClinVar dbSNP
5g.137639916A>GCA361048836KLHL3c.965T>C (p.Phe322Ser)
n.552T>C
c.*335-11479T>C (n.*335-11479T>C)
c.845T>C (p.Phe282Ser)
c.719T>C (p.Phe240Ser)
n.590T>C
c.869T>C (p.Phe290Ser)
5g.137639916A>TCA361048838KLHL3c.965T>A (p.Phe322Tyr)
n.552T>A
c.*335-11479T>A (n.*335-11479T>A)
c.845T>A (p.Phe282Tyr)
c.719T>A (p.Phe240Tyr)
n.590T>A
c.869T>A (p.Phe290Tyr)
5g.137639917A>CCA361048839KLHL3c.964T>G (p.Phe322Val)
n.551T>G
c.*335-11480T>G (n.*335-11480T>G)
c.844T>G (p.Phe282Val)
c.718T>G (p.Phe240Val)
n.589T>G
c.868T>G (p.Phe290Val)
5g.137639917A>GCA361048841KLHL3c.964T>C (p.Phe322Leu)
n.551T>C
c.*335-11480T>C (n.*335-11480T>C)
c.844T>C (p.Phe282Leu)
c.718T>C (p.Phe240Leu)
n.589T>C
c.868T>C (p.Phe290Leu)
5g.137639917A>TCA361048840KLHL3c.964T>A (p.Phe322Ile)
n.551T>A
c.*335-11480T>A (n.*335-11480T>A)
c.844T>A (p.Phe282Ile)
c.718T>A (p.Phe240Ile)
n.589T>A
c.868T>A (p.Phe290Ile)
5g.137639918A>CCA361048843KLHL3c.963T>G (p.Asp321Glu)
n.550T>G
c.*335-11481T>G (n.*335-11481T>G)
c.843T>G (p.Asp281Glu)
c.717T>G (p.Asp239Glu)
n.588T>G
c.867T>G (p.Asp289Glu)
5g.137639918A>GCA446561546KLHL3c.963T>C (p.Asp321=)
n.550T>C
c.*335-11481T>C (n.*335-11481T>C)
c.843T>C (p.Asp281=)
c.717T>C (p.Asp239=)
n.588T>C
c.867T>C (p.Asp289=)
5g.137639918A>TCA361048845KLHL3c.963T>A (p.Asp321Glu)
n.550T>A
c.*335-11481T>A (n.*335-11481T>A)
c.843T>A (p.Asp281Glu)
c.717T>A (p.Asp239Glu)
n.588T>A
c.867T>A (p.Asp289Glu)
5g.137639919T>ACA361048847KLHL3c.962A>T (p.Asp321Val)
n.549A>T
c.*335-11482A>T (n.*335-11482A>T)
c.842A>T (p.Asp281Val)
c.716A>T (p.Asp239Val)
n.587A>T
c.866A>T (p.Asp289Val)
5g.137639919T>CCA361048848KLHL3c.962A>G (p.Asp321Gly)
n.549A>G
c.*335-11482A>G (n.*335-11482A>G)
c.842A>G (p.Asp281Gly)
c.716A>G (p.Asp239Gly)
n.587A>G
c.866A>G (p.Asp289Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.137639919T>GCA361048850KLHL3c.962A>C (p.Asp321Ala)
n.549A>C
c.*335-11482A>C (n.*335-11482A>C)
c.842A>C (p.Asp281Ala)
c.716A>C (p.Asp239Ala)
n.587A>C
c.866A>C (p.Asp289Ala)
5g.137639919T=CA1585498464KLHL3c.962A= (p.Asp321=)
n.549A=
c.*335-11482A= (n.*335-11482A=)
c.842A= (p.Asp281=)
c.716A= (p.Asp239=)
n.587A=
c.866A= (p.Asp289=)
5g.137639920C>ACA361048853KLHL3c.961G>T (p.Asp321Tyr)
n.548G>T
c.*335-11483G>T (n.*335-11483G>T)
c.841G>T (p.Asp281Tyr)
c.715G>T (p.Asp239Tyr)
n.586G>T
c.865G>T (p.Asp289Tyr)
5g.137639920C>GCA361048854KLHL3c.961G>C (p.Asp321His)
n.548G>C
c.*335-11483G>C (n.*335-11483G>C)
c.841G>C (p.Asp281His)
c.715G>C (p.Asp239His)
n.586G>C
c.865G>C (p.Asp289His)
5g.137639920C>TCA361048856KLHL3c.961G>A (p.Asp321Asn)
n.548G>A
c.*335-11483G>A (n.*335-11483G>A)
c.841G>A (p.Asp281Asn)
c.715G>A (p.Asp239Asn)
n.586G>A
c.865G>A (p.Asp289Asn)
5g.137639921A>CCA361048858KLHL3c.960T>G (p.Tyr320Ter)
n.547T>G
c.*335-11484T>G (n.*335-11484T>G)
c.840T>G (p.Tyr280Ter)
c.714T>G (p.Tyr238Ter)
n.585T>G
c.864T>G (p.Tyr288Ter)
5g.137639921A>GCA446561547KLHL3c.960T>C (p.Tyr320=)
n.547T>C
c.*335-11484T>C (n.*335-11484T>C)
c.840T>C (p.Tyr280=)
c.714T>C (p.Tyr238=)
n.585T>C
c.864T>C (p.Tyr288=)
5g.137639921A>TCA361048859KLHL3c.960T>A (p.Tyr320Ter)
n.547T>A
c.*335-11484T>A (n.*335-11484T>A)
c.840T>A (p.Tyr280Ter)
c.714T>A (p.Tyr238Ter)
n.585T>A
c.864T>A (p.Tyr288Ter)
5g.137639922T>ACA361048861KLHL3c.959A>T (p.Tyr320Phe)
n.546A>T
c.*335-11485A>T (n.*335-11485A>T)
c.839A>T (p.Tyr280Phe)
c.713A>T (p.Tyr238Phe)
n.584A>T
c.863A>T (p.Tyr288Phe)
5g.137639922T>CCA3422330KLHL3c.959A>G (p.Tyr320Cys)
n.546A>G
c.*335-11485A>G (n.*335-11485A>G)
c.839A>G (p.Tyr280Cys)
c.713A>G (p.Tyr238Cys)
n.584A>G
c.863A>G (p.Tyr288Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137639922T>GCA361048863KLHL3c.959A>C (p.Tyr320Ser)
n.546A>C
c.*335-11485A>C (n.*335-11485A>C)
c.839A>C (p.Tyr280Ser)
c.713A>C (p.Tyr238Ser)
n.584A>C
c.863A>C (p.Tyr288Ser)
5g.137639922T=CA1585498467KLHL3c.959A= (p.Tyr320=)
n.546A=
c.*335-11485A= (n.*335-11485A=)
c.839A= (p.Tyr280=)
c.713A= (p.Tyr238=)
n.584A=
c.863A= (p.Tyr288=)
5g.137639923A>CCA361048865KLHL3c.958T>G (p.Tyr320Asp)
n.545T>G
c.*335-11486T>G (n.*335-11486T>G)
c.838T>G (p.Tyr280Asp)
c.712T>G (p.Tyr238Asp)
n.583T>G
c.862T>G (p.Tyr288Asp)
5g.137639923A>GCA361048868KLHL3c.958T>C (p.Tyr320His)
n.545T>C
c.*335-11486T>C (n.*335-11486T>C)
c.838T>C (p.Tyr280His)
c.712T>C (p.Tyr238His)
n.583T>C
c.862T>C (p.Tyr288His)
5g.137639923A>TCA361048867KLHL3c.958T>A (p.Tyr320Asn)
n.545T>A
c.*335-11486T>A (n.*335-11486T>A)
c.838T>A (p.Tyr280Asn)
c.712T>A (p.Tyr238Asn)
n.583T>A
c.862T>A (p.Tyr288Asn)
5g.137639924G>ACA446561548KLHL3c.957C>T (p.Cys319=)
n.544C>T
c.*335-11487C>T (n.*335-11487C>T)
c.837C>T (p.Cys279=)
c.711C>T (p.Cys237=)
n.582C>T
c.861C>T (p.Cys287=)
5g.137639924G>CCA361048870KLHL3c.957C>G (p.Cys319Trp)
n.544C>G
c.*335-11487C>G (n.*335-11487C>G)
c.837C>G (p.Cys279Trp)
c.711C>G (p.Cys237Trp)
n.582C>G
c.861C>G (p.Cys287Trp)
5g.137639924G>TCA361048871KLHL3c.957C>A (p.Cys319Ter)
n.544C>A
c.*335-11487C>A (n.*335-11487C>A)
c.837C>A (p.Cys279Ter)
c.711C>A (p.Cys237Ter)
n.582C>A
c.861C>A (p.Cys287Ter)
5g.137639925C>ACA361048873KLHL3c.956G>T (p.Cys319Phe)
n.543G>T
c.*335-11488G>T (n.*335-11488G>T)
c.836G>T (p.Cys279Phe)
c.710G>T (p.Cys237Phe)
n.581G>T
c.860G>T (p.Cys287Phe)
 gnomAD v4
5g.137639925C>GCA361048875KLHL3c.956G>C (p.Cys319Ser)
n.543G>C
c.*335-11488G>C (n.*335-11488G>C)
c.836G>C (p.Cys279Ser)
c.710G>C (p.Cys237Ser)
n.581G>C
c.860G>C (p.Cys287Ser)
5g.137639925C>TCA361048877KLHL3c.956G>A (p.Cys319Tyr)
n.543G>A
c.*335-11488G>A (n.*335-11488G>A)
c.836G>A (p.Cys279Tyr)
c.710G>A (p.Cys237Tyr)
n.581G>A
c.860G>A (p.Cys287Tyr)
5g.137639926A>CCA361048878KLHL3c.955T>G (p.Cys319Gly)
n.542T>G
c.*335-11489T>G (n.*335-11489T>G)
c.835T>G (p.Cys279Gly)
c.709T>G (p.Cys237Gly)
n.580T>G
c.859T>G (p.Cys287Gly)
5g.137639926A>GCA361048879KLHL3c.955T>C (p.Cys319Arg)
n.542T>C
c.*335-11489T>C (n.*335-11489T>C)
c.835T>C (p.Cys279Arg)
c.709T>C (p.Cys237Arg)
n.580T>C
c.859T>C (p.Cys287Arg)
5g.137639926A>TCA361048880KLHL3c.955T>A (p.Cys319Ser)
n.542T>A
c.*335-11489T>A (n.*335-11489T>A)
c.835T>A (p.Cys279Ser)
c.709T>A (p.Cys237Ser)
n.580T>A
c.859T>A (p.Cys287Ser)
5g.137639927C>ACA361048882KLHL3c.954G>T (p.Glu318Asp)
n.541G>T
c.*335-11490G>T (n.*335-11490G>T)
c.834G>T (p.Glu278Asp)
c.708G>T (p.Glu236Asp)
n.579G>T
c.858G>T (p.Glu286Asp)
5g.137639927C>GCA361048884KLHL3c.954G>C (p.Glu318Asp)
n.541G>C
c.*335-11490G>C (n.*335-11490G>C)
c.834G>C (p.Glu278Asp)
c.708G>C (p.Glu236Asp)
n.579G>C
c.858G>C (p.Glu286Asp)
 gnomAD v4
5g.137639927C>TCA446561549KLHL3c.954G>A (p.Glu318=)
n.541G>A
c.*335-11490G>A (n.*335-11490G>A)
c.834G>A (p.Glu278=)
c.708G>A (p.Glu236=)
n.579G>A
c.858G>A (p.Glu286=)
5g.137639928T>ACA361048887KLHL3c.953A>T (p.Glu318Val)
n.540A>T
c.*335-11491A>T (n.*335-11491A>T)
c.833A>T (p.Glu278Val)
c.707A>T (p.Glu236Val)
n.578A>T
c.857A>T (p.Glu286Val)
5g.137639928T>CCA361048889KLHL3c.953A>G (p.Glu318Gly)
n.540A>G
c.*335-11491A>G (n.*335-11491A>G)
c.833A>G (p.Glu278Gly)
c.707A>G (p.Glu236Gly)
n.578A>G
c.857A>G (p.Glu286Gly)
5g.137639928T>GCA361048886KLHL3c.953A>C (p.Glu318Ala)
n.540A>C
c.*335-11491A>C (n.*335-11491A>C)
c.833A>C (p.Glu278Ala)
c.707A>C (p.Glu236Ala)
n.578A>C
c.857A>C (p.Glu286Ala)
 gnomAD v4
5g.137639929C>ACA361048894KLHL3c.952G>T (p.Glu318Ter)
n.539G>T
c.*335-11492G>T (n.*335-11492G>T)
c.832G>T (p.Glu278Ter)
c.706G>T (p.Glu236Ter)
n.577G>T
c.856G>T (p.Glu286Ter)
5g.137639929C=CA1585498472KLHL3c.952G= (p.Glu318=)
n.539G=
c.*335-11492G= (n.*335-11492G=)
c.832G= (p.Glu278=)
c.706G= (p.Glu236=)
n.577G=
c.856G= (p.Glu286=)
5g.137639929C>GCA361048891KLHL3c.952G>C (p.Glu318Gln)
n.539G>C
c.*335-11492G>C (n.*335-11492G>C)
c.832G>C (p.Glu278Gln)
c.706G>C (p.Glu236Gln)
n.577G>C
c.856G>C (p.Glu286Gln)
 dbSNP gnomAD v2 gnomAD v4
5g.137639929C>TCA361048893KLHL3c.952G>A (p.Glu318Lys)
n.539G>A
c.*335-11492G>A (n.*335-11492G>A)
c.832G>A (p.Glu278Lys)
c.706G>A (p.Glu236Lys)
n.577G>A
c.856G>A (p.Glu286Lys)
5g.137639930C>ACA446561550KLHL3c.951G>T (p.Val317=)
n.538G>T
c.*335-11493G>T (n.*335-11493G>T)
c.831G>T (p.Val277=)
c.705G>T (p.Val235=)
n.576G>T
c.855G>T (p.Val285=)
5g.137639930C>GCA446561551KLHL3c.951G>C (p.Val317=)
n.538G>C
c.*335-11493G>C (n.*335-11493G>C)
c.831G>C (p.Val277=)
c.705G>C (p.Val235=)
n.576G>C
c.855G>C (p.Val285=)
5g.137639930C>TCA446561552KLHL3c.951G>A (p.Val317=)
n.538G>A
c.*335-11493G>A (n.*335-11493G>A)
c.831G>A (p.Val277=)
c.705G>A (p.Val235=)
n.576G>A
c.855G>A (p.Val285=)
5g.137639931A>CCA361048896KLHL3c.950T>G (p.Val317Gly)
n.537T>G
c.*335-11494T>G (n.*335-11494T>G)
c.830T>G (p.Val277Gly)
c.704T>G (p.Val235Gly)
n.575T>G
c.854T>G (p.Val285Gly)
5g.137639931A>GCA361048897KLHL3c.950T>C (p.Val317Ala)
n.537T>C
c.*335-11494T>C (n.*335-11494T>C)
c.830T>C (p.Val277Ala)
c.704T>C (p.Val235Ala)
n.575T>C
c.854T>C (p.Val285Ala)
 gnomAD v4
5g.137639931A>TCA361048899KLHL3c.950T>A (p.Val317Glu)
n.537T>A
c.*335-11494T>A (n.*335-11494T>A)
c.830T>A (p.Val277Glu)
c.704T>A (p.Val235Glu)
n.575T>A
c.854T>A (p.Val285Glu)
5g.137639932C>ACA361048900KLHL3c.949G>T (p.Val317Leu)
n.536G>T
c.*335-11495G>T (n.*335-11495G>T)
c.829G>T (p.Val277Leu)
c.703G>T (p.Val235Leu)
n.574G>T
c.853G>T (p.Val285Leu)
5g.137639932C>GCA361048901KLHL3c.949G>C (p.Val317Leu)
n.536G>C
c.*335-11495G>C (n.*335-11495G>C)
c.829G>C (p.Val277Leu)
c.703G>C (p.Val235Leu)
n.574G>C
c.853G>C (p.Val285Leu)
5g.137639932C>TCA361048902KLHL3c.949G>A (p.Val317Met)
n.536G>A
c.*335-11495G>A (n.*335-11495G>A)
c.829G>A (p.Val277Met)
c.703G>A (p.Val235Met)
n.574G>A
c.853G>A (p.Val285Met)
5g.137639933A=CA1585498475KLHL3c.948T= (p.Ser316=)
n.535T=
c.*335-11496T= (n.*335-11496T=)
c.828T= (p.Ser276=)
c.702T= (p.Ser234=)
n.573T=
c.852T= (p.Ser284=)
5g.137639933A>CCA361048904KLHL3c.948T>G (p.Ser316Arg)
n.535T>G
c.*335-11496T>G (n.*335-11496T>G)
c.828T>G (p.Ser276Arg)
c.702T>G (p.Ser234Arg)
n.573T>G
c.852T>G (p.Ser284Arg)
5g.137639933A>GCA446561553KLHL3c.948T>C (p.Ser316=)
n.535T>C
c.*335-11496T>C (n.*335-11496T>C)
c.828T>C (p.Ser276=)
c.702T>C (p.Ser234=)
n.573T>C
c.852T>C (p.Ser284=)
 dbSNP gnomAD v2 gnomAD v4
5g.137639933A>TCA361048906KLHL3c.948T>A (p.Ser316Arg)
n.535T>A
c.*335-11496T>A (n.*335-11496T>A)
c.828T>A (p.Ser276Arg)
c.702T>A (p.Ser234Arg)
n.573T>A
c.852T>A (p.Ser284Arg)
5g.137639934C>ACA361048908KLHL3c.947G>T (p.Ser316Ile)
n.534G>T
c.*335-11497G>T (n.*335-11497G>T)
c.827G>T (p.Ser276Ile)
c.701G>T (p.Ser234Ile)
n.572G>T
c.851G>T (p.Ser284Ile)
5g.137639934C>GCA361048909KLHL3c.947G>C (p.Ser316Thr)
n.534G>C
c.*335-11497G>C (n.*335-11497G>C)
c.827G>C (p.Ser276Thr)
c.701G>C (p.Ser234Thr)
n.572G>C
c.851G>C (p.Ser284Thr)
5g.137639934C>TCA361048911KLHL3c.947G>A (p.Ser316Asn)
n.534G>A
c.*335-11497G>A (n.*335-11497G>A)
c.827G>A (p.Ser276Asn)
c.701G>A (p.Ser234Asn)
n.572G>A
c.851G>A (p.Ser284Asn)
5g.137639935T>ACA361048913KLHL3c.946A>T (p.Ser316Cys)
n.533A>T
c.*335-11498A>T (n.*335-11498A>T)
c.826A>T (p.Ser276Cys)
c.700A>T (p.Ser234Cys)
n.571A>T
c.850A>T (p.Ser284Cys)
5g.137639935T>CCA361048916KLHL3c.946A>G (p.Ser316Gly)
n.533A>G
c.*335-11498A>G (n.*335-11498A>G)
c.826A>G (p.Ser276Gly)
c.700A>G (p.Ser234Gly)
n.571A>G
c.850A>G (p.Ser284Gly)
 gnomAD v4
5g.137639935T>GCA361048915KLHL3c.946A>C (p.Ser316Arg)
n.533A>C
c.*335-11498A>C (n.*335-11498A>C)
c.826A>C (p.Ser276Arg)
c.700A>C (p.Ser234Arg)
n.571A>C
c.850A>C (p.Ser284Arg)
 gnomAD v4
5g.137639936G>ACA446561554KLHL3c.945C>T (p.Arg315=)
n.532C>T
c.*335-11499C>T (n.*335-11499C>T)
c.825C>T (p.Arg275=)
c.699C>T (p.Arg233=)
n.570C>T
c.849C>T (p.Arg283=)
5g.137639936G>CCA446561555KLHL3c.945C>G (p.Arg315=)
n.532C>G
c.*335-11499C>G (n.*335-11499C>G)
c.825C>G (p.Arg275=)
c.699C>G (p.Arg233=)
n.570C>G
c.849C>G (p.Arg283=)
5g.137639936G=CA1585498477KLHL3c.945C= (p.Arg315=)
n.532C=
c.*335-11499C= (n.*335-11499C=)
c.825C= (p.Arg275=)
c.699C= (p.Arg233=)
n.570C=
c.849C= (p.Arg283=)
5g.137639936G>TCA3422331KLHL3c.945C>A (p.Arg315=)
n.532C>A
c.*335-11499C>A (n.*335-11499C>A)
c.825C>A (p.Arg275=)
c.699C>A (p.Arg233=)
n.570C>A
c.849C>A (p.Arg283=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639937C>ACA361048918KLHL3c.944G>T (p.Arg315Leu)
n.531G>T
c.*335-11500G>T (n.*335-11500G>T)
c.824G>T (p.Arg275Leu)
c.698G>T (p.Arg233Leu)
n.569G>T
c.848G>T (p.Arg283Leu)
5g.137639937C=CA1585498480KLHL3c.944G= (p.Arg315=)
n.531G=
c.*335-11500G= (n.*335-11500G=)
c.824G= (p.Arg275=)
c.698G= (p.Arg233=)
n.569G=
c.848G= (p.Arg283=)
5g.137639937C>GCA361048920KLHL3c.944G>C (p.Arg315Pro)
n.531G>C
c.*335-11500G>C (n.*335-11500G>C)
c.824G>C (p.Arg275Pro)
c.698G>C (p.Arg233Pro)
n.569G>C
c.848G>C (p.Arg283Pro)
5g.137639937C>TCA3422332KLHL3c.944G>A (p.Arg315His)
n.531G>A
c.*335-11500G>A (n.*335-11500G>A)
c.824G>A (p.Arg275His)
c.698G>A (p.Arg233His)
n.569G>A
c.848G>A (p.Arg283His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.137639938G>ACA3422333KLHL3c.943C>T (p.Arg315Cys)
n.530C>T
c.*335-11501C>T (n.*335-11501C>T)
c.823C>T (p.Arg275Cys)
c.697C>T (p.Arg233Cys)
n.568C>T
c.847C>T (p.Arg283Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639938G>CCA361048922KLHL3c.943C>G (p.Arg315Gly)
n.530C>G
c.*335-11501C>G (n.*335-11501C>G)
c.823C>G (p.Arg275Gly)
c.697C>G (p.Arg233Gly)
n.568C>G
c.847C>G (p.Arg283Gly)
5g.137639938G=CA1585498484KLHL3c.943C= (p.Arg315=)
n.530C=
c.*335-11501C= (n.*335-11501C=)
c.823C= (p.Arg275=)
c.697C= (p.Arg233=)
n.568C=
c.847C= (p.Arg283=)
5g.137639938G>TCA361048924KLHL3c.943C>A (p.Arg315Ser)
n.530C>A
c.*335-11501C>A (n.*335-11501C>A)
c.823C>A (p.Arg275Ser)
c.697C>A (p.Arg233Ser)
n.568C>A
c.847C>A (p.Arg283Ser)
5g.137639939G>ACA446561556KLHL3c.942C>T (p.Ile314=)
n.529C>T
c.*335-11502C>T (n.*335-11502C>T)
c.822C>T (p.Ile274=)
c.696C>T (p.Ile232=)
n.567C>T
c.846C>T (p.Ile282=)
5g.137639939G>CCA361048926KLHL3c.942C>G (p.Ile314Met)
n.529C>G
c.*335-11502C>G (n.*335-11502C>G)
c.822C>G (p.Ile274Met)
c.696C>G (p.Ile232Met)
n.567C>G
c.846C>G (p.Ile282Met)
5g.137639939G>TCA446561557KLHL3c.942C>A (p.Ile314=)
n.529C>A
c.*335-11502C>A (n.*335-11502C>A)
c.822C>A (p.Ile274=)
c.696C>A (p.Ile232=)
n.567C>A
c.846C>A (p.Ile282=)
 gnomAD v4
5g.137639940A>CCA361048927KLHL3c.941T>G (p.Ile314Ser)
n.528T>G
c.*335-11503T>G (n.*335-11503T>G)
c.821T>G (p.Ile274Ser)
c.695T>G (p.Ile232Ser)
n.566T>G
c.845T>G (p.Ile282Ser)
5g.137639940A>GCA361048928KLHL3c.941T>C (p.Ile314Thr)
n.528T>C
c.*335-11503T>C (n.*335-11503T>C)
c.821T>C (p.Ile274Thr)
c.695T>C (p.Ile232Thr)
n.566T>C
c.845T>C (p.Ile282Thr)
5g.137639940A>TCA361048930KLHL3c.941T>A (p.Ile314Asn)
n.528T>A
c.*335-11503T>A (n.*335-11503T>A)
c.821T>A (p.Ile274Asn)
c.695T>A (p.Ile232Asn)
n.566T>A
c.845T>A (p.Ile282Asn)
5g.137639941T>ACA361048935KLHL3c.940A>T (p.Ile314Phe)
n.527A>T
c.*335-11504A>T (n.*335-11504A>T)
c.820A>T (p.Ile274Phe)
c.694A>T (p.Ile232Phe)
n.565A>T
c.844A>T (p.Ile282Phe)
5g.137639941T>CCA3422334KLHL3c.940A>G (p.Ile314Val)
n.527A>G
c.*335-11504A>G (n.*335-11504A>G)
c.820A>G (p.Ile274Val)
c.694A>G (p.Ile232Val)
n.565A>G
c.844A>G (p.Ile282Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137639941T>GCA361048932KLHL3c.940A>C (p.Ile314Leu)
n.527A>C
c.*335-11504A>C (n.*335-11504A>C)
c.820A>C (p.Ile274Leu)
c.694A>C (p.Ile232Leu)
n.565A>C
c.844A>C (p.Ile282Leu)
5g.137639941T=CA1585498489KLHL3c.940A= (p.Ile314=)
n.527A=
c.*335-11504A= (n.*335-11504A=)
c.820A= (p.Ile274=)
c.694A= (p.Ile232=)
n.565A=
c.844A= (p.Ile282=)
5g.137639942T>ACA446561558KLHL3c.939A>T (p.Ala313=)
n.526A>T
c.*335-11505A>T (n.*335-11505A>T)
c.819A>T (p.Ala273=)
c.693A>T (p.Ala231=)
n.564A>T
c.843A>T (p.Ala281=)
5g.137639942T>CCA446561559KLHL3c.939A>G (p.Ala313=)
n.526A>G
c.*335-11505A>G (n.*335-11505A>G)
c.819A>G (p.Ala273=)
c.693A>G (p.Ala231=)
n.564A>G
c.843A>G (p.Ala281=)
5g.137639942T>GCA446561560KLHL3c.939A>C (p.Ala313=)
n.526A>C
c.*335-11505A>C (n.*335-11505A>C)
c.819A>C (p.Ala273=)
c.693A>C (p.Ala231=)
n.564A>C
c.843A>C (p.Ala281=)
5g.137639943G>ACA361048938KLHL3c.938C>T (p.Ala313Val)
n.525C>T
c.*335-11506C>T (n.*335-11506C>T)
c.818C>T (p.Ala273Val)
c.692C>T (p.Ala231Val)
n.563C>T
c.842C>T (p.Ala281Val)
5g.137639943G>CCA361048939KLHL3c.938C>G (p.Ala313Gly)
n.525C>G
c.*335-11506C>G (n.*335-11506C>G)
c.818C>G (p.Ala273Gly)
c.692C>G (p.Ala231Gly)
n.563C>G
c.842C>G (p.Ala281Gly)
5g.137639943G>TCA361048940KLHL3c.938C>A (p.Ala313Glu)
n.525C>A
c.*335-11506C>A (n.*335-11506C>A)
c.818C>A (p.Ala273Glu)
c.692C>A (p.Ala231Glu)
n.563C>A
c.842C>A (p.Ala281Glu)
5g.137639944C>ACA361048942KLHL3c.937G>T (p.Ala313Ser)
n.524G>T
c.*335-11507G>T (n.*335-11507G>T)
c.817G>T (p.Ala273Ser)
c.691G>T (p.Ala231Ser)
n.562G>T
c.841G>T (p.Ala281Ser)
5g.137639944C>GCA361048943KLHL3c.937G>C (p.Ala313Pro)
n.524G>C
c.*335-11507G>C (n.*335-11507G>C)
c.817G>C (p.Ala273Pro)
c.691G>C (p.Ala231Pro)
n.562G>C
c.841G>C (p.Ala281Pro)
5g.137639944C>TCA361048945KLHL3c.937G>A (p.Ala313Thr)
n.524G>A
c.*335-11507G>A (n.*335-11507G>A)
c.817G>A (p.Ala273Thr)
c.691G>A (p.Ala231Thr)
n.562G>A
c.841G>A (p.Ala281Thr)
5g.137639945C>ACA361048947KLHL3c.936G>T (p.Lys312Asn)
n.523G>T
c.*335-11508G>T (n.*335-11508G>T)
c.816G>T (p.Lys272Asn)
c.690G>T (p.Lys230Asn)
n.561G>T
c.840G>T (p.Lys280Asn)
5g.137639945C=CA1585498492KLHL3c.936G= (p.Lys312=)
n.523G=
c.*335-11508G= (n.*335-11508G=)
c.816G= (p.Lys272=)
c.690G= (p.Lys230=)
n.561G=
c.840G= (p.Lys280=)
5g.137639945C>GCA361048948KLHL3c.936G>C (p.Lys312Asn)
n.523G>C
c.*335-11508G>C (n.*335-11508G>C)
c.816G>C (p.Lys272Asn)
c.690G>C (p.Lys230Asn)
n.561G>C
c.840G>C (p.Lys280Asn)
5g.137639945C>TCA3422335KLHL3c.936G>A (p.Lys312=)
n.523G>A
c.*335-11508G>A (n.*335-11508G>A)
c.816G>A (p.Lys272=)
c.690G>A (p.Lys230=)
n.561G>A
c.840G>A (p.Lys280=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.137639946T>ACA361048950KLHL3c.935A>T (p.Lys312Met)
n.522A>T
c.*335-11509A>T (n.*335-11509A>T)
c.815A>T (p.Lys272Met)
c.689A>T (p.Lys230Met)
n.560A>T
c.839A>T (p.Lys280Met)
5g.137639946T>CCA361048952KLHL3c.935A>G (p.Lys312Arg)
n.522A>G
c.*335-11509A>G (n.*335-11509A>G)
c.815A>G (p.Lys272Arg)
c.689A>G (p.Lys230Arg)
n.560A>G
c.839A>G (p.Lys280Arg)
5g.137639946T>GCA361048954KLHL3c.935A>C (p.Lys312Thr)
n.522A>C
c.*335-11509A>C (n.*335-11509A>C)
c.815A>C (p.Lys272Thr)
c.689A>C (p.Lys230Thr)
n.560A>C
c.839A>C (p.Lys280Thr)
5g.137639947T>ACA361048957KLHL3c.934A>T (p.Lys312Ter)
n.521A>T
c.*335-11510A>T (n.*335-11510A>T)
c.814A>T (p.Lys272Ter)
c.688A>T (p.Lys230Ter)
n.559A>T
c.838A>T (p.Lys280Ter)
5g.137639947T>CCA361048959KLHL3c.934A>G (p.Lys312Glu)
n.521A>G
c.*335-11510A>G (n.*335-11510A>G)
c.814A>G (p.Lys272Glu)
c.688A>G (p.Lys230Glu)
n.559A>G
c.838A>G (p.Lys280Glu)
5g.137639947T>GCA361048955KLHL3c.934A>C (p.Lys312Gln)
n.521A>C
c.*335-11510A>C (n.*335-11510A>C)
c.814A>C (p.Lys272Gln)
c.688A>C (p.Lys230Gln)
n.559A>C
c.838A>C (p.Lys280Gln)
5g.137639948G>ACA446561561KLHL3c.933C>T (p.Pro311=)
n.520C>T
c.*335-11511C>T (n.*335-11511C>T)
c.813C>T (p.Pro271=)
c.687C>T (p.Pro229=)
n.558C>T
c.837C>T (p.Pro279=)
 dbSNP gnomAD v2 gnomAD v4
5g.137639948G>CCA446561562KLHL3c.933C>G (p.Pro311=)
n.520C>G
c.*335-11511C>G (n.*335-11511C>G)
c.813C>G (p.Pro271=)
c.687C>G (p.Pro229=)
n.558C>G
c.837C>G (p.Pro279=)
5g.137639948G=CA1585498496KLHL3c.933C= (p.Pro311=)
n.520C=
c.*335-11511C= (n.*335-11511C=)
c.813C= (p.Pro271=)
c.687C= (p.Pro229=)
n.558C=
c.837C= (p.Pro279=)
5g.137639948G>TCA446561563KLHL3c.933C>A (p.Pro311=)
n.520C>A
c.*335-11511C>A (n.*335-11511C>A)
c.813C>A (p.Pro271=)
c.687C>A (p.Pro229=)
n.558C>A
c.837C>A (p.Pro279=)
5g.137639949G>ACA361048961KLHL3c.932C>T (p.Pro311Leu)
n.519C>T
c.*335-11512C>T (n.*335-11512C>T)
c.812C>T (p.Pro271Leu)
c.686C>T (p.Pro229Leu)
n.557C>T
c.836C>T (p.Pro279Leu)
 COSMIC
5g.137639949G>CCA361048962KLHL3c.932C>G (p.Pro311Arg)
n.519C>G
c.*335-11512C>G (n.*335-11512C>G)
c.812C>G (p.Pro271Arg)
c.686C>G (p.Pro229Arg)
n.557C>G
c.836C>G (p.Pro279Arg)
5g.137639949G>TCA361048963KLHL3c.932C>A (p.Pro311His)
n.519C>A
c.*335-11512C>A (n.*335-11512C>A)
c.812C>A (p.Pro271His)
c.686C>A (p.Pro229His)
n.557C>A
c.836C>A (p.Pro279His)
5g.137639950G>ACA361048965KLHL3c.931C>T (p.Pro311Ser)
n.518C>T
c.*335-11513C>T (n.*335-11513C>T)
c.811C>T (p.Pro271Ser)
c.685C>T (p.Pro229Ser)
n.556C>T
c.835C>T (p.Pro279Ser)
5g.137639950G>CCA361048966KLHL3c.931C>G (p.Pro311Ala)
n.518C>G
c.*335-11513C>G (n.*335-11513C>G)
c.811C>G (p.Pro271Ala)
c.685C>G (p.Pro229Ala)
n.556C>G
c.835C>G (p.Pro279Ala)
5g.137639950G>TCA361048968KLHL3c.931C>A (p.Pro311Thr)
n.518C>A
c.*335-11513C>A (n.*335-11513C>A)
c.811C>A (p.Pro271Thr)
c.685C>A (p.Pro229Thr)
n.556C>A
c.835C>A (p.Pro279Thr)
5g.137639951T>ACA446561564KLHL3c.930A>T (p.Ala310=)
n.517A>T
c.*335-11514A>T (n.*335-11514A>T)
c.810A>T (p.Ala270=)
c.684A>T (p.Ala228=)
n.555A>T
c.834A>T (p.Ala278=)
5g.137639951T>CCA446561566KLHL3c.930A>G (p.Ala310=)
n.517A>G
c.*335-11514A>G (n.*335-11514A>G)
c.810A>G (p.Ala270=)
c.684A>G (p.Ala228=)
n.555A>G
c.834A>G (p.Ala278=)
5g.137639951T>GCA446561565KLHL3c.930A>C (p.Ala310=)
n.517A>C
c.*335-11514A>C (n.*335-11514A>C)
c.810A>C (p.Ala270=)
c.684A>C (p.Ala228=)
n.555A>C
c.834A>C (p.Ala278=)
5g.137639952G>ACA361048973KLHL3c.929C>T (p.Ala310Val)
n.516C>T
c.*335-11515C>T (n.*335-11515C>T)
c.809C>T (p.Ala270Val)
c.683C>T (p.Ala228Val)
n.554C>T
c.833C>T (p.Ala278Val)
5g.137639952G>CCA361048970KLHL3c.929C>G (p.Ala310Gly)
n.516C>G
c.*335-11515C>G (n.*335-11515C>G)
c.809C>G (p.Ala270Gly)
c.683C>G (p.Ala228Gly)
n.554C>G
c.833C>G (p.Ala278Gly)
5g.137639952G>TCA361048972KLHL3c.929C>A (p.Ala310Glu)
n.516C>A
c.*335-11515C>A (n.*335-11515C>A)
c.809C>A (p.Ala270Glu)
c.683C>A (p.Ala228Glu)
n.554C>A
c.833C>A (p.Ala278Glu)
5g.137639953C>ACA361048976KLHL3c.928G>T (p.Ala310Ser)
n.515G>T
c.*335-11516G>T (n.*335-11516G>T)
c.808G>T (p.Ala270Ser)
c.682G>T (p.Ala228Ser)
n.553G>T
c.832G>T (p.Ala278Ser)
5g.137639953C>GCA361048978KLHL3c.928G>C (p.Ala310Pro)
n.515G>C
c.*335-11516G>C (n.*335-11516G>C)
c.808G>C (p.Ala270Pro)
c.682G>C (p.Ala228Pro)
n.553G>C
c.832G>C (p.Ala278Pro)
 gnomAD v4
5g.137639953C>TCA361048979KLHL3c.928G>A (p.Ala310Thr)
n.515G>A
c.*335-11516G>A (n.*335-11516G>A)
c.808G>A (p.Ala270Thr)
c.682G>A (p.Ala228Thr)
n.553G>A
c.832G>A (p.Ala278Thr)
 gnomAD v4
5g.137639954C>ACA361048980KLHL3c.927G>T (p.Gln309His)
n.514G>T
c.*335-11517G>T (n.*335-11517G>T)
c.807G>T (p.Gln269His)
c.681G>T (p.Gln227His)
n.552G>T
c.831G>T (p.Gln277His)
5g.137639954C>GCA361048981KLHL3c.927G>C (p.Gln309His)
n.514G>C
c.*335-11517G>C (n.*335-11517G>C)
c.807G>C (p.Gln269His)
c.681G>C (p.Gln227His)
n.552G>C
c.831G>C (p.Gln277His)
5g.137639954C>TCA446561567KLHL3c.927G>A (p.Gln309=)
n.514G>A
c.*335-11517G>A (n.*335-11517G>A)
c.807G>A (p.Gln269=)
c.681G>A (p.Gln227=)
n.552G>A
c.831G>A (p.Gln277=)
5g.137639955T>ACA361048986KLHL3c.926A>T (p.Gln309Leu)
n.513A>T
c.*335-11518A>T (n.*335-11518A>T)
c.806A>T (p.Gln269Leu)
c.680A>T (p.Gln227Leu)
n.551A>T
c.830A>T (p.Gln277Leu)
5g.137639955T>CCA269982KLHL3c.926A>G (p.Gln309Arg)
n.513A>G
c.*335-11518A>G (n.*335-11518A>G)
c.806A>G (p.Gln269Arg)
c.680A>G (p.Gln227Arg)
n.551A>G
c.830A>G (p.Gln277Arg)
 ClinVar dbSNP
5g.137639955T>GCA361048984KLHL3c.926A>C (p.Gln309Pro)
n.513A>C
c.*335-11518A>C (n.*335-11518A>C)
c.806A>C (p.Gln269Pro)
c.680A>C (p.Gln227Pro)
n.551A>C
c.830A>C (p.Gln277Pro)
5g.137639955T=CA1585498500KLHL3c.926A= (p.Gln309=)
n.513A=
c.*335-11518A= (n.*335-11518A=)
c.806A= (p.Gln269=)
c.680A= (p.Gln227=)
n.551A=
c.830A= (p.Gln277=)
5g.137639956G>ACA361048987KLHL3c.925C>T (p.Gln309Ter)
n.512C>T
c.*335-11519C>T (n.*335-11519C>T)
c.805C>T (p.Gln269Ter)
c.679C>T (p.Gln227Ter)
n.550C>T
c.829C>T (p.Gln277Ter)
5g.137639956G>CCA361048990KLHL3c.925C>G (p.Gln309Glu)
n.512C>G
c.*335-11519C>G (n.*335-11519C>G)
c.805C>G (p.Gln269Glu)
c.679C>G (p.Gln227Glu)
n.550C>G
c.829C>G (p.Gln277Glu)
5g.137639956G>TCA361048988KLHL3c.925C>A (p.Gln309Lys)
n.512C>A
c.*335-11519C>A (n.*335-11519C>A)
c.805C>A (p.Gln269Lys)
c.679C>A (p.Gln227Lys)
n.550C>A
c.829C>A (p.Gln277Lys)
5g.137639957G>ACA446561568KLHL3c.924C>T (p.Gly308=)
n.511C>T
c.*335-11520C>T (n.*335-11520C>T)
c.804C>T (p.Gly268=)
c.678C>T (p.Gly226=)
n.549C>T
c.828C>T (p.Gly276=)
 dbSNP gnomAD v4
5g.137639957G>CCA446561570KLHL3c.924C>G (p.Gly308=)
n.511C>G
c.*335-11520C>G (n.*335-11520C>G)
c.804C>G (p.Gly268=)
c.678C>G (p.Gly226=)
n.549C>G
c.828C>G (p.Gly276=)
5g.137639957G=CA1585498504KLHL3c.924C= (p.Gly308=)
n.511C=
c.*335-11520C= (n.*335-11520C=)
c.804C= (p.Gly268=)
c.678C= (p.Gly226=)
n.549C=
c.828C= (p.Gly276=)
5g.137639957G>TCA446561569KLHL3c.924C>A (p.Gly308=)
n.511C>A
c.*335-11520C>A (n.*335-11520C>A)
c.804C>A (p.Gly268=)
c.678C>A (p.Gly226=)
n.549C>A
c.828C>A (p.Gly276=)
5g.137639958C>ACA361048993KLHL3c.923G>T (p.Gly308Val)
n.510G>T
c.*335-11521G>T (n.*335-11521G>T)
c.803G>T (p.Gly268Val)
c.677G>T (p.Gly226Val)
n.548G>T
c.827G>T (p.Gly276Val)
5g.137639958C>GCA361048994KLHL3c.923G>C (p.Gly308Ala)
n.510G>C
c.*335-11521G>C (n.*335-11521G>C)
c.803G>C (p.Gly268Ala)
c.677G>C (p.Gly226Ala)
n.548G>C
c.827G>C (p.Gly276Ala)
5g.137639958C>TCA361048995KLHL3c.923G>A (p.Gly308Asp)
n.510G>A
c.*335-11521G>A (n.*335-11521G>A)
c.803G>A (p.Gly268Asp)
c.677G>A (p.Gly226Asp)
n.548G>A
c.827G>A (p.Gly276Asp)
5g.137639959C>ACA361048996KLHL3c.922G>T (p.Gly308Cys)
n.509G>T
c.*335-11522G>T (n.*335-11522G>T)
c.802G>T (p.Gly268Cys)
c.676G>T (p.Gly226Cys)
n.547G>T
c.826G>T (p.Gly276Cys)
5g.137639959C>GCA361048998KLHL3c.922G>C (p.Gly308Arg)
n.509G>C
c.*335-11522G>C (n.*335-11522G>C)
c.802G>C (p.Gly268Arg)
c.676G>C (p.Gly226Arg)
n.547G>C
c.826G>C (p.Gly276Arg)
5g.137639959C>TCA361048999KLHL3c.922G>A (p.Gly308Ser)
n.509G>A
c.*335-11522G>A (n.*335-11522G>A)
c.802G>A (p.Gly268Ser)
c.676G>A (p.Gly226Ser)
n.547G>A
c.826G>A (p.Gly276Ser)
 COSMIC
5g.137639960G>ACA3422336KLHL3c.921C>T (p.Gly307=)
n.508C>T
c.*335-11523C>T (n.*335-11523C>T)
c.801C>T (p.Gly267=)
c.675C>T (p.Gly225=)
n.546C>T
c.825C>T (p.Gly275=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.137639960G>CCA446561571KLHL3c.921C>G (p.Gly307=)
n.508C>G
c.*335-11523C>G (n.*335-11523C>G)
c.801C>G (p.Gly267=)
c.675C>G (p.Gly225=)
n.546C>G
c.825C>G (p.Gly275=)
5g.137639960G=CA1585498506KLHL3c.921C= (p.Gly307=)
n.508C=
c.*335-11523C= (n.*335-11523C=)
c.801C= (p.Gly267=)
c.675C= (p.Gly225=)
n.546C=
c.825C= (p.Gly275=)
5g.137639960G>TCA446561572KLHL3c.921C>A (p.Gly307=)
n.508C>A
c.*335-11523C>A (n.*335-11523C>A)
c.801C>A (p.Gly267=)
c.675C>A (p.Gly225=)
n.546C>A
c.825C>A (p.Gly275=)
5g.137639961C>ACA361049001KLHL3c.920G>T (p.Gly307Val)
n.507G>T
c.*335-11524G>T (n.*335-11524G>T)
c.800G>T (p.Gly267Val)
c.674G>T (p.Gly225Val)
n.545G>T
c.824G>T (p.Gly275Val)
5g.137639961C>GCA361049003KLHL3c.920G>C (p.Gly307Ala)
n.507G>C
c.*335-11524G>C (n.*335-11524G>C)
c.800G>C (p.Gly267Ala)
c.674G>C (p.Gly225Ala)
n.545G>C
c.824G>C (p.Gly275Ala)
5g.137639961C>TCA361049005KLHL3c.920G>A (p.Gly307Asp)
n.507G>A
c.*335-11524G>A (n.*335-11524G>A)
c.800G>A (p.Gly267Asp)
c.674G>A (p.Gly225Asp)
n.545G>A
c.824G>A (p.Gly275Asp)
5g.137639962C>ACA361049007KLHL3c.919G>T (p.Gly307Cys)
n.506G>T
c.*335-11525G>T (n.*335-11525G>T)
c.799G>T (p.Gly267Cys)
c.673G>T (p.Gly225Cys)
n.544G>T
c.823G>T (p.Gly275Cys)
5g.137639962C=CA1585498509KLHL3c.919G= (p.Gly307=)
n.506G=
c.*335-11525G= (n.*335-11525G=)
c.799G= (p.Gly267=)
c.673G= (p.Gly225=)
n.544G=
c.823G= (p.Gly275=)
5g.137639962C>GCA361049008KLHL3c.919G>C (p.Gly307Arg)
n.506G>C
c.*335-11525G>C (n.*335-11525G>C)
c.799G>C (p.Gly267Arg)
c.673G>C (p.Gly225Arg)
n.544G>C
c.823G>C (p.Gly275Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.137639962C>TCA361049010KLHL3c.919G>A (p.Gly307Ser)
n.506G>A
c.*335-11525G>A (n.*335-11525G>A)
c.799G>A (p.Gly267Ser)
c.673G>A (p.Gly225Ser)
n.544G>A
c.823G>A (p.Gly275Ser)
5g.137639963A>CCA446561573KLHL3c.918T>G (p.Val306=)
n.505T>G
c.*335-11526T>G (n.*335-11526T>G)
c.798T>G (p.Val266=)
c.672T>G (p.Val224=)
n.543T>G
c.822T>G (p.Val274=)
5g.137639963A>GCA446561574KLHL3c.918T>C (p.Val306=)
n.505T>C
c.*335-11526T>C (n.*335-11526T>C)
c.798T>C (p.Val266=)
c.672T>C (p.Val224=)
n.543T>C
c.822T>C (p.Val274=)
5g.137639963A>TCA446561575KLHL3c.918T>A (p.Val306=)
n.505T>A
c.*335-11526T>A (n.*335-11526T>A)
c.798T>A (p.Val266=)
c.672T>A (p.Val224=)
n.543T>A
c.822T>A (p.Val274=)
5g.137639964A>CCA361049015KLHL3c.917T>G (p.Val306Gly)
n.504T>G
c.*335-11527T>G (n.*335-11527T>G)
c.797T>G (p.Val266Gly)
c.671T>G (p.Val224Gly)
n.542T>G
c.821T>G (p.Val274Gly)
5g.137639964A>GCA361049014KLHL3c.917T>C (p.Val306Ala)
n.504T>C
c.*335-11527T>C (n.*335-11527T>C)
c.797T>C (p.Val266Ala)
c.671T>C (p.Val224Ala)
n.542T>C
c.821T>C (p.Val274Ala)
5g.137639964A>TCA361049012KLHL3c.917T>A (p.Val306Asp)
n.504T>A
c.*335-11527T>A (n.*335-11527T>A)
c.797T>A (p.Val266Asp)
c.671T>A (p.Val224Asp)
n.542T>A
c.821T>A (p.Val274Asp)
5g.137639965C>ACA361049016KLHL3c.916G>T (p.Val306Phe)
n.503G>T
c.*335-11528G>T (n.*335-11528G>T)
c.796G>T (p.Val266Phe)
c.670G>T (p.Val224Phe)
n.541G>T
c.820G>T (p.Val274Phe)
5g.137639965C>GCA361049017KLHL3c.916G>C (p.Val306Leu)
n.503G>C
c.*335-11528G>C (n.*335-11528G>C)
c.796G>C (p.Val266Leu)
c.670G>C (p.Val224Leu)
n.541G>C
c.820G>C (p.Val274Leu)
5g.137639965C>TCA361049018KLHL3c.916G>A (p.Val306Ile)
n.503G>A
c.*335-11528G>A (n.*335-11528G>A)
c.796G>A (p.Val266Ile)
c.670G>A (p.Val224Ile)
n.541G>A
c.820G>A (p.Val274Ile)
5g.137639966C>ACA446561578KLHL3c.915G>T (p.Val305=)
n.502G>T
c.*335-11529G>T (n.*335-11529G>T)
c.795G>T (p.Val265=)
c.669G>T (p.Val223=)
n.540G>T
c.819G>T (p.Val273=)
 dbSNP gnomAD v2
5g.137639966C=CA1585498511KLHL3c.915G= (p.Val305=)
n.502G=
c.*335-11529G= (n.*335-11529G=)
c.795G= (p.Val265=)
c.669G= (p.Val223=)
n.540G=
c.819G= (p.Val273=)
5g.137639966C>GCA446561576KLHL3c.915G>C (p.Val305=)
n.502G>C
c.*335-11529G>C (n.*335-11529G>C)
c.795G>C (p.Val265=)
c.669G>C (p.Val223=)
n.540G>C
c.819G>C (p.Val273=)
5g.137639966C>TCA446561577KLHL3c.915G>A (p.Val305=)
n.502G>A
c.*335-11529G>A (n.*335-11529G>A)
c.795G>A (p.Val265=)
c.669G>A (p.Val223=)
n.540G>A
c.819G>A (p.Val273=)
 gnomAD v4
5g.137639967A>CCA361049020KLHL3c.914T>G (p.Val305Gly)
n.501T>G
c.*335-11530T>G (n.*335-11530T>G)
c.794T>G (p.Val265Gly)
c.668T>G (p.Val223Gly)
n.539T>G
c.818T>G (p.Val273Gly)
5g.137639967A>GCA361049022KLHL3c.914T>C (p.Val305Ala)
n.501T>C
c.*335-11530T>C (n.*335-11530T>C)
c.794T>C (p.Val265Ala)
c.668T>C (p.Val223Ala)
n.539T>C
c.818T>C (p.Val273Ala)
5g.137639967A>TCA361049023KLHL3c.914T>A (p.Val305Glu)
n.501T>A
c.*335-11530T>A (n.*335-11530T>A)
c.794T>A (p.Val265Glu)
c.668T>A (p.Val223Glu)
n.539T>A
c.818T>A (p.Val273Glu)
5g.137639968C>ACA361049025KLHL3c.913G>T (p.Val305Leu)
n.500G>T
c.*335-11531G>T (n.*335-11531G>T)
c.793G>T (p.Val265Leu)
c.667G>T (p.Val223Leu)
n.538G>T
c.817G>T (p.Val273Leu)
5g.137639968C>GCA361049027KLHL3c.913G>C (p.Val305Leu)
n.500G>C
c.*335-11531G>C (n.*335-11531G>C)
c.793G>C (p.Val265Leu)
c.667G>C (p.Val223Leu)
n.538G>C
c.817G>C (p.Val273Leu)
5g.137639968C>TCA361049028KLHL3c.913G>A (p.Val305Met)
n.500G>A
c.*335-11531G>A (n.*335-11531G>A)
c.793G>A (p.Val265Met)
c.667G>A (p.Val223Met)
n.538G>A
c.817G>A (p.Val273Met)
5g.137639969A>CCA361049029KLHL3c.912T>G (p.Ile304Met)
n.499T>G
c.*335-11532T>G (n.*335-11532T>G)
c.792T>G (p.Ile264Met)
c.666T>G (p.Ile222Met)
n.537T>G
c.816T>G (p.Ile272Met)
5g.137639969A>GCA446561579KLHL3c.912T>C (p.Ile304=)
n.499T>C
c.*335-11532T>C (n.*335-11532T>C)
c.792T>C (p.Ile264=)
c.666T>C (p.Ile222=)
n.537T>C
c.816T>C (p.Ile272=)
5g.137639969A>TCA446561580KLHL3c.912T>A (p.Ile304=)
n.499T>A
c.*335-11532T>A (n.*335-11532T>A)
c.792T>A (p.Ile264=)
c.666T>A (p.Ile222=)
n.537T>A
c.816T>A (p.Ile272=)
5g.137639969_137639970insCCCAACACCA2768566576KLHL3c.911_912insGTGTTGGG (p.Ile304MetfsTer?)
n.498_499insGTGTTGGG
c.*335-11533_*335-11532insGTGTTGGG (n.*335-11533_*335-11532insGTGTTGGG)
c.791_792insGTGTTGGG (p.Ile264MetfsTer?)
c.665_666insGTGTTGGG (p.Ile222MetfsTer?)
n.536_537insGTGTTGGG
c.815_816insGTGTTGGG (p.Ile272MetfsTer?)
5g.137639970A=CA1585498513KLHL3c.911T= (p.Ile304=)
n.498T=
c.*335-11533T= (n.*335-11533T=)
c.791T= (p.Ile264=)
c.665T= (p.Ile222=)
n.536T=
c.815T= (p.Ile272=)
5g.137639970A>CCA361049031KLHL3c.911T>G (p.Ile304Ser)
n.498T>G
c.*335-11533T>G (n.*335-11533T>G)
c.791T>G (p.Ile264Ser)
c.665T>G (p.Ile222Ser)
n.536T>G
c.815T>G (p.Ile272Ser)
5g.137639970A>GCA128104539KLHL3c.911T>C (p.Ile304Thr)
n.498T>C
c.*335-11533T>C (n.*335-11533T>C)
c.791T>C (p.Ile264Thr)
c.665T>C (p.Ile222Thr)
n.536T>C
c.815T>C (p.Ile272Thr)
 dbSNP gnomAD v3 gnomAD v4
5g.137639970A>TCA361049033KLHL3c.911T>A (p.Ile304Asn)
n.498T>A
c.*335-11533T>A (n.*335-11533T>A)
c.791T>A (p.Ile264Asn)
c.665T>A (p.Ile222Asn)
n.536T>A
c.815T>A (p.Ile272Asn)
5g.137639971T>ACA361049036KLHL3c.910A>T (p.Ile304Phe)
n.497A>T
c.*335-11534A>T (n.*335-11534A>T)
c.790A>T (p.Ile264Phe)
c.664A>T (p.Ile222Phe)
n.535A>T
c.814A>T (p.Ile272Phe)
5g.137639971T>CCA361049038KLHL3c.910A>G (p.Ile304Val)
n.497A>G
c.*335-11534A>G (n.*335-11534A>G)
c.790A>G (p.Ile264Val)
c.664A>G (p.Ile222Val)
n.535A>G
c.814A>G (p.Ile272Val)
5g.137639971T>GCA361049035KLHL3c.910A>C (p.Ile304Leu)
n.497A>C
c.*335-11534A>C (n.*335-11534A>C)
c.790A>C (p.Ile264Leu)
c.664A>C (p.Ile222Leu)
n.535A>C
c.814A>C (p.Ile272Leu)
5g.137639972C>ACA361049040KLHL3c.909G>T (p.Met303Ile)
n.496G>T
c.*335-11535G>T (n.*335-11535G>T)
c.789G>T (p.Met263Ile)
c.663G>T (p.Met221Ile)
n.534G>T
c.813G>T (p.Met271Ile)
 gnomAD v4
5g.137639972C>GCA361049041KLHL3c.909G>C (p.Met303Ile)
n.496G>C
c.*335-11535G>C (n.*335-11535G>C)
c.789G>C (p.Met263Ile)
c.663G>C (p.Met221Ile)
n.534G>C
c.813G>C (p.Met271Ile)
5g.137639972C>TCA361049043KLHL3c.909G>A (p.Met303Ile)
n.496G>A
c.*335-11535G>A (n.*335-11535G>A)
c.789G>A (p.Met263Ile)
c.663G>A (p.Met221Ile)
n.534G>A
c.813G>A (p.Met271Ile)
5g.137639973A>CCA361049044KLHL3c.908T>G (p.Met303Arg)
n.495T>G
c.*335-11536T>G (n.*335-11536T>G)
c.788T>G (p.Met263Arg)
c.662T>G (p.Met221Arg)
n.533T>G
c.812T>G (p.Met271Arg)
5g.137639973A>GCA361049046KLHL3c.908T>C (p.Met303Thr)
n.495T>C
c.*335-11536T>C (n.*335-11536T>C)
c.788T>C (p.Met263Thr)
c.662T>C (p.Met221Thr)
n.533T>C
c.812T>C (p.Met271Thr)
 gnomAD v4
5g.137639973A>TCA361049047KLHL3c.908T>A (p.Met303Lys)
n.495T>A
c.*335-11536T>A (n.*335-11536T>A)
c.788T>A (p.Met263Lys)
c.662T>A (p.Met221Lys)
n.533T>A
c.812T>A (p.Met271Lys)
5g.137639974T>ACA361049049KLHL3c.907A>T (p.Met303Leu)
n.494A>T
c.*335-11537A>T (n.*335-11537A>T)
c.787A>T (p.Met263Leu)
c.661A>T (p.Met221Leu)
n.532A>T
c.811A>T (p.Met271Leu)
5g.137639974T>CCA3422337KLHL3c.907A>G (p.Met303Val)
n.494A>G
c.*335-11537A>G (n.*335-11537A>G)
c.787A>G (p.Met263Val)
c.661A>G (p.Met221Val)
n.532A>G
c.811A>G (p.Met271Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.137639974T>GCA361049051KLHL3c.907A>C (p.Met303Leu)
n.494A>C
c.*335-11537A>C (n.*335-11537A>C)
c.787A>C (p.Met263Leu)
c.661A>C (p.Met221Leu)
n.532A>C
c.811A>C (p.Met271Leu)
 dbSNP gnomAD v4
5g.137639974T=CA1585498519KLHL3c.907A= (p.Met303=)
n.494A=
c.*335-11537A= (n.*335-11537A=)
c.787A= (p.Met263=)
c.661A= (p.Met221=)
n.532A=
c.811A= (p.Met271=)
5g.137639975G>ACA446561581KLHL3c.906C>T (p.Val302=)
n.493C>T
c.*335-11538C>T (n.*335-11538C>T)
c.786C>T (p.Val262=)
c.660C>T (p.Val220=)
n.531C>T
c.810C>T (p.Val270=)
 dbSNP gnomAD v3 gnomAD v4
5g.137639975G>CCA446561582KLHL3c.906C>G (p.Val302=)
n.493C>G
c.*335-11538C>G (n.*335-11538C>G)
c.786C>G (p.Val262=)
c.660C>G (p.Val220=)
n.531C>G
c.810C>G (p.Val270=)
5g.137639975G=CA1585498523KLHL3c.906C= (p.Val302=)
n.493C=
c.*335-11538C= (n.*335-11538C=)
c.786C= (p.Val262=)
c.660C= (p.Val220=)
n.531C=
c.810C= (p.Val270=)
5g.137639975G>TCA446561583KLHL3c.906C>A (p.Val302=)
n.493C>A
c.*335-11538C>A (n.*335-11538C>A)
c.786C>A (p.Val262=)
c.660C>A (p.Val220=)
n.531C>A
c.810C>A (p.Val270=)
5g.137639976A>CCA361049052KLHL3c.905T>G (p.Val302Gly)
n.492T>G
c.*335-11539T>G (n.*335-11539T>G)
c.785T>G (p.Val262Gly)
c.659T>G (p.Val220Gly)
n.530T>G
c.809T>G (p.Val270Gly)
5g.137639976A>GCA361049054KLHL3c.905T>C (p.Val302Ala)
n.492T>C
c.*335-11539T>C (n.*335-11539T>C)
c.785T>C (p.Val262Ala)
c.659T>C (p.Val220Ala)
n.530T>C
c.809T>C (p.Val270Ala)
5g.137639976A>TCA361049055KLHL3c.905T>A (p.Val302Asp)
n.492T>A
c.*335-11539T>A (n.*335-11539T>A)
c.785T>A (p.Val262Asp)
c.659T>A (p.Val220Asp)
n.530T>A
c.809T>A (p.Val270Asp)
5g.137639977C>ACA361049059KLHL3c.904G>T (p.Val302Phe)
n.491G>T
c.*335-11540G>T (n.*335-11540G>T)
c.784G>T (p.Val262Phe)
c.658G>T (p.Val220Phe)
n.529G>T
c.808G>T (p.Val270Phe)
5g.137639977C>GCA361049056KLHL3c.904G>C (p.Val302Leu)
n.491G>C
c.*335-11540G>C (n.*335-11540G>C)
c.784G>C (p.Val262Leu)
c.658G>C (p.Val220Leu)
n.529G>C
c.808G>C (p.Val270Leu)
5g.137639977C>TCA361049058KLHL3c.904G>A (p.Val302Ile)
n.491G>A
c.*335-11540G>A (n.*335-11540G>A)
c.784G>A (p.Val262Ile)
c.658G>A (p.Val220Ile)
n.529G>A
c.808G>A (p.Val270Ile)
5g.137639978C>ACA361049060KLHL3c.904-1G>T (n.904-1G>T)
n.491-1G>T
c.*335-11541G>T (n.*335-11541G>T)
c.784-1G>T (n.784-1G>T)
c.658-1G>T (n.658-1G>T)
n.529-1G>T
c.808-1G>T (n.808-1G>T)
5g.137639978C>GCA361049062KLHL3c.904-1G>C (n.904-1G>C)
n.491-1G>C
c.*335-11541G>C (n.*335-11541G>C)
c.784-1G>C (n.784-1G>C)
c.658-1G>C (n.658-1G>C)
n.529-1G>C
c.808-1G>C (n.808-1G>C)
5g.137639978C>TCA361049064KLHL3c.904-1G>A (n.904-1G>A)
n.491-1G>A
c.*335-11541G>A (n.*335-11541G>A)
c.784-1G>A (n.784-1G>A)
c.658-1G>A (n.658-1G>A)
n.529-1G>A
c.808-1G>A (n.808-1G>A)
 gnomAD v4
5g.137639979T>ACA361049066KLHL3c.904-2A>T (n.904-2A>T)
n.491-2A>T
c.*335-11542A>T (n.*335-11542A>T)
c.784-2A>T (n.784-2A>T)
c.658-2A>T (n.658-2A>T)
n.529-2A>T
c.808-2A>T (n.808-2A>T)
5g.137639979T>CCA361049068KLHL3c.904-2A>G (n.904-2A>G)
n.491-2A>G
c.*335-11542A>G (n.*335-11542A>G)
c.784-2A>G (n.784-2A>G)
c.658-2A>G (n.658-2A>G)
n.529-2A>G
c.808-2A>G (n.808-2A>G)
5g.137639979T>GCA361049069KLHL3c.904-2A>C (n.904-2A>C)
n.491-2A>C
c.*335-11542A>C (n.*335-11542A>C)
c.784-2A>C (n.784-2A>C)
c.658-2A>C (n.658-2A>C)
n.529-2A>C
c.808-2A>C (n.808-2A>C)
5g.137639980C=CA1585498526KLHL3c.904-3G= (n.904-3G=)
n.491-3G=
c.*335-11543G= (n.*335-11543G=)
c.784-3G= (n.784-3G=)
c.658-3G= (n.658-3G=)
n.529-3G=
c.808-3G= (n.808-3G=)
5g.137639980C>GCA1585498525KLHL3c.904-3G>C (n.904-3G>C)
n.491-3G>C
c.*335-11543G>C (n.*335-11543G>C)
c.784-3G>C (n.784-3G>C)
c.658-3G>C (n.658-3G>C)
n.529-3G>C
c.808-3G>C (n.808-3G>C)
 dbSNP

Number of alleles fetched