Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.96145096_96145098delCA2687993743GDF6c.837_839del (p.Val280del)
c.775_777del (p.Gly259del)
c.438_440del (p.Val147del)
 gnomAD v4
8g.96145093C>ACA371751710GDF6c.838G>T (p.Val280Leu)
c.776G>T (p.Gly259Val)
c.439G>T (p.Val147Leu)
 gnomAD v4
8g.96145093C>GCA371751708GDF6c.838G>C (p.Val280Leu)
c.776G>C (p.Gly259Ala)
c.439G>C (p.Val147Leu)
 gnomAD v4
8g.96145093C>TCA371751709GDF6c.838G>A (p.Val280Ile)
c.776G>A (p.Gly259Asp)
c.439G>A (p.Val147Ile)
 gnomAD v4
8g.96145094delCA2687993749GDF6c.838del (p.Val280TyrfsTer?)
c.776del (p.Gly259ValfsTer26)
c.439del (p.Val147TyrfsTer?)
 gnomAD v4
8g.96145094C>ACA371751711GDF6c.837G>T (p.Val279=)
c.775G>T (p.Gly259Cys)
c.438G>T (p.Val146=)
 gnomAD v4
8g.96145094C=CA1804261769GDF6c.837G= (p.Val279=)
c.775G= (p.Gly259=)
c.438G= (p.Val146=)
8g.96145094C>GCA371751712GDF6c.837G>C (p.Val279=)
c.775G>C (p.Gly259Arg)
c.438G>C (p.Val146=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145094C>TCA371751713GDF6c.837G>A (p.Val279=)
c.775G>A (p.Gly259Ser)
c.438G>A (p.Val146=)
 dbSNP gnomAD v4
8g.96145095A>CCA371751714GDF6c.836T>G (p.Val279Gly)
c.774T>G (p.Gly258=)
c.437T>G (p.Val146Gly)
8g.96145095A>GCA371751715GDF6c.836T>C (p.Val279Ala)
c.774T>C (p.Gly258=)
c.437T>C (p.Val146Ala)
 gnomAD v4
8g.96145095A>TCA371751716GDF6c.836T>A (p.Val279Glu)
c.774T>A (p.Gly258=)
c.437T>A (p.Val146Glu)
8g.96145096C>ACA371751717GDF6c.835G>T (p.Val279Leu)
c.773G>T (p.Gly258Val)
c.436G>T (p.Val146Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.96145096C=CA1804261779GDF6c.835G= (p.Val279=)
c.773G= (p.Gly258=)
c.436G= (p.Val146=)
8g.96145096C>GCA371751718GDF6c.835G>C (p.Val279Leu)
c.773G>C (p.Gly258Ala)
c.436G>C (p.Val146Leu)
 gnomAD v4
8g.96145096C>TCA371751719GDF6c.835G>A (p.Val279Met)
c.773G>A (p.Gly258Asp)
c.436G>A (p.Val146Met)
 dbSNP gnomAD v2 gnomAD v4
8g.96145097delCA2687993762GDF6c.835del (p.Val279TrpfsTer?)
c.773del (p.Gly258ValfsTer27)
c.436del (p.Val146TrpfsTer?)
 gnomAD v4
8g.96145097C>ACA371751720GDF6c.834G>T (p.Leu278=)
c.772G>T (p.Gly258Cys)
c.435G>T (p.Leu145=)
 gnomAD v4
8g.96145097C>GCA371751721GDF6c.834G>C (p.Leu278=)
c.772G>C (p.Gly258Arg)
c.435G>C (p.Leu145=)
 gnomAD v4
8g.96145097C>TCA371751722GDF6c.834G>A (p.Leu278=)
c.772G>A (p.Gly258Ser)
c.435G>A (p.Leu145=)
 gnomAD v4
8g.96145098A>CCA371751725GDF6c.833T>G (p.Leu278Arg)
c.771T>G (p.Ala257=)
c.434T>G (p.Leu145Arg)
8g.96145098A>GCA371751724GDF6c.833T>C (p.Leu278Pro)
c.771T>C (p.Ala257=)
c.434T>C (p.Leu145Pro)
 gnomAD v4
8g.96145098A>TCA371751723GDF6c.833T>A (p.Leu278Gln)
c.771T>A (p.Ala257=)
c.434T>A (p.Leu145Gln)
8g.96145099G>ACA371751728GDF6c.832C>T (p.Leu278=)
c.770C>T (p.Ala257Val)
c.433C>T (p.Leu145=)
 ClinVar dbSNP gnomAD v4
8g.96145099G>CCA371751726GDF6c.832C>G (p.Leu278Val)
c.770C>G (p.Ala257Gly)
c.433C>G (p.Leu145Val)
 gnomAD v4
8g.96145099G>TCA371751727GDF6c.832C>A (p.Leu278Met)
c.770C>A (p.Ala257Asp)
c.433C>A (p.Leu145Met)
 gnomAD v4
8g.96145100delCA2687993781GDF6c.831del (p.Leu278TrpfsTer?)
c.769del (p.Ala257LeufsTer28)
c.432del (p.Leu145TrpfsTer?)
 gnomAD v4
8g.96145100C>ACA371751729GDF6c.831G>T (p.Leu277=)
c.769G>T (p.Ala257Ser)
c.432G>T (p.Leu144=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145100C=CA1804261785GDF6c.831G= (p.Leu277=)
c.769G= (p.Ala257=)
c.432G= (p.Leu144=)
8g.96145100C>GCA371751730GDF6c.831G>C (p.Leu277=)
c.769G>C (p.Ala257Pro)
c.432G>C (p.Leu144=)
8g.96145100C>TCA371751731GDF6c.831G>A (p.Leu277=)
c.769G>A (p.Ala257Thr)
c.432G>A (p.Leu144=)
 gnomAD v4
8g.96145101A=CA1804261791GDF6c.830T= (p.Leu277=)
c.768T= (p.Pro256=)
c.431T= (p.Leu144=)
8g.96145101A>CCA371751733GDF6c.830T>G (p.Leu277Arg)
c.768T>G (p.Pro256=)
c.431T>G (p.Leu144Arg)
8g.96145101A>GCA371751732GDF6c.830T>C (p.Leu277Pro)
c.768T>C (p.Pro256=)
c.431T>C (p.Leu144Pro)
 gnomAD v4
8g.96145101A>TCA4815402GDF6c.830T>A (p.Leu277Gln)
c.768T>A (p.Pro256=)
c.431T>A (p.Leu144Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145102G>ACA181485032GDF6c.829C>T (p.Leu277=)
c.767C>T (p.Pro256Leu)
c.430C>T (p.Leu144=)
 dbSNP gnomAD v4
8g.96145102G>CCA371751734GDF6c.829C>G (p.Leu277Val)
c.767C>G (p.Pro256Arg)
c.430C>G (p.Leu144Val)
8g.96145102G=CA1804261794GDF6c.829C= (p.Leu277=)
c.767C= (p.Pro256=)
c.430C= (p.Leu144=)
8g.96145102G>TCA371751735GDF6c.829C>A (p.Leu277Met)
c.767C>A (p.Pro256His)
c.430C>A (p.Leu144Met)
 gnomAD v4
8g.96145103G>ACA371751736GDF6c.828C>T (p.Ala276=)
c.766C>T (p.Pro256Ser)
c.429C>T (p.Ala143=)
 gnomAD v4
8g.96145103G>CCA371751737GDF6c.828C>G (p.Ala276=)
c.766C>G (p.Pro256Ala)
c.429C>G (p.Ala143=)
 dbSNP
8g.96145103G=CA1804261801GDF6c.828C= (p.Ala276=)
c.766C= (p.Pro256=)
c.429C= (p.Ala143=)
8g.96145103G>TCA371751738GDF6c.828C>A (p.Ala276=)
c.766C>A (p.Pro256Thr)
c.429C>A (p.Ala143=)
 gnomAD v4
8g.96145104G>ACA371751739GDF6c.827C>T (p.Ala276Val)
c.765C>T (p.Gly255=)
c.428C>T (p.Ala143Val)
 gnomAD v4 COSMIC
8g.96145104G>CCA181485033GDF6c.827C>G (p.Ala276Gly)
c.765C>G (p.Gly255=)
c.428C>G (p.Ala143Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.96145104G=CA1804261807GDF6c.827C= (p.Ala276=)
c.765C= (p.Gly255=)
c.428C= (p.Ala143=)
8g.96145104G>TCA371751740GDF6c.827C>A (p.Ala276Asp)
c.765C>A (p.Gly255=)
c.428C>A (p.Ala143Asp)
 gnomAD v4
8g.96145105C>ACA371751741GDF6c.826G>T (p.Ala276Ser)
c.764G>T (p.Gly255Val)
c.427G>T (p.Ala143Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.96145105C=CA1804261816GDF6c.826G= (p.Ala276=)
c.764G= (p.Gly255=)
c.427G= (p.Ala143=)
8g.96145105C>GCA371751742GDF6c.826G>C (p.Ala276Pro)
c.764G>C (p.Gly255Ala)
c.427G>C (p.Ala143Pro)
8g.96145105C>TCA371751743GDF6c.826G>A (p.Ala276Thr)
c.764G>A (p.Gly255Asp)
c.427G>A (p.Ala143Thr)
 gnomAD v4
8g.96145107dupCA583845611GDF6c.826dup (p.Ala276GlyfsTer?)
c.764dup (p.Ala257CysfsTer?)
c.427dup (p.Ala143GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v4
8g.96145107delCA2687993794GDF6c.826del (p.Ala276ProfsTer?)
c.764del (p.Gly255AlafsTer30)
c.427del (p.Ala143ProfsTer?)
 gnomAD v4
8g.96145106C>ACA371751744GDF6c.825G>T (p.Arg275=)
c.763G>T (p.Gly255Cys)
c.426G>T (p.Arg142=)
 gnomAD v4
8g.96145106C>GCA371751745GDF6c.825G>C (p.Arg275=)
c.763G>C (p.Gly255Arg)
c.426G>C (p.Arg142=)
 gnomAD v4
8g.96145106C>TCA371751746GDF6c.825G>A (p.Arg275=)
c.763G>A (p.Gly255Ser)
c.426G>A (p.Arg142=)
 gnomAD v4
8g.96145107C>ACA371751747GDF6c.824G>T (p.Arg275Leu)
c.762G>T (p.Ala254=)
c.425G>T (p.Arg142Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.96145107C=CA1804261821GDF6c.824G= (p.Arg275=)
c.762G= (p.Ala254=)
c.425G= (p.Arg142=)
8g.96145107C>GCA371751748GDF6c.824G>C (p.Arg275Pro)
c.762G>C (p.Ala254=)
c.425G>C (p.Arg142Pro)
 gnomAD v4
8g.96145107C>TCA371751749GDF6c.824G>A (p.Arg275Gln)
c.762G>A (p.Ala254=)
c.425G>A (p.Arg142Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.96145108G>ACA371751750GDF6c.823C>T (p.Arg275Trp)
c.761C>T (p.Ala254Val)
c.424C>T (p.Arg142Trp)
 gnomAD v4
8g.96145108G>CCA371751751GDF6c.823C>G (p.Arg275Gly)
c.761C>G (p.Ala254Gly)
c.424C>G (p.Arg142Gly)
 gnomAD v4
8g.96145108G=CA1804261823GDF6c.823C= (p.Arg275=)
c.761C= (p.Ala254=)
c.424C= (p.Arg142=)
8g.96145108G>TCA371751752GDF6c.823C>A (p.Arg275=)
c.761C>A (p.Ala254Glu)
c.424C>A (p.Arg142=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145109C>ACA371751754GDF6c.822G>T (p.Glu274Asp)
c.760G>T (p.Ala254Ser)
c.423G>T (p.Glu141Asp)
 gnomAD v4
8g.96145109C>GCA371751755GDF6c.822G>C (p.Glu274Asp)
c.760G>C (p.Ala254Pro)
c.423G>C (p.Glu141Asp)
8g.96145109C>TCA371751753GDF6c.822G>A (p.Glu274=)
c.760G>A (p.Ala254Thr)
c.423G>A (p.Glu141=)
 gnomAD v4
8g.96145110T>ACA371751756GDF6c.821A>T (p.Glu274Val)
c.759A>T (p.Gly253=)
c.422A>T (p.Glu141Val)
8g.96145110T>CCA4815403GDF6c.821A>G (p.Glu274Gly)
c.759A>G (p.Gly253=)
c.422A>G (p.Glu141Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145110T>GCA371751757GDF6c.821A>C (p.Glu274Ala)
c.759A>C (p.Gly253=)
c.422A>C (p.Glu141Ala)
8g.96145110T=CA1804261828GDF6c.821A= (p.Glu274=)
c.759A= (p.Gly253=)
c.422A= (p.Glu141=)
8g.96145111C>ACA371751758GDF6c.820G>T (p.Glu274Ter)
c.758G>T (p.Gly253Val)
c.421G>T (p.Glu141Ter)
 gnomAD v4
8g.96145111C>GCA371751759GDF6c.820G>C (p.Glu274Gln)
c.758G>C (p.Gly253Ala)
c.421G>C (p.Glu141Gln)
8g.96145111C>TCA371751760GDF6c.820G>A (p.Glu274Lys)
c.758G>A (p.Gly253Glu)
c.421G>A (p.Glu141Lys)
 gnomAD v4
8g.96145112C>ACA371751763GDF6c.819G>T (p.Gln273His)
c.757G>T (p.Gly253Ter)
c.420G>T (p.Gln140His)
 dbSNP gnomAD v4
8g.96145112C=CA1804261836GDF6c.819G= (p.Gln273=)
c.757G= (p.Gly253=)
c.420G= (p.Gln140=)
8g.96145112C>GCA371751762GDF6c.819G>C (p.Gln273His)
c.757G>C (p.Gly253Arg)
c.420G>C (p.Gln140His)
8g.96145112C>TCA371751761GDF6c.819G>A (p.Gln273=)
c.757G>A (p.Gly253Arg)
c.420G>A (p.Gln140=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145113T>ACA371751764GDF6c.818A>T (p.Gln273Leu)
c.756A>T (p.Pro252=)
c.419A>T (p.Gln140Leu)
 gnomAD v4
8g.96145113T>CCA371751765GDF6c.818A>G (p.Gln273Arg)
c.756A>G (p.Pro252=)
c.419A>G (p.Gln140Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145113T>GCA371751766GDF6c.818A>C (p.Gln273Pro)
c.756A>C (p.Pro252=)
c.419A>C (p.Gln140Pro)
8g.96145113T=CA1804261843GDF6c.818A= (p.Gln273=)
c.756A= (p.Pro252=)
c.419A= (p.Gln140=)
8g.96145113_96145114delinsTGCA1804261842GDF6c.817_818delinsCA (p.Gln273=)
c.755_756delinsCA (p.Pro252=)
c.418_419delinsCA (p.Gln140=)
8g.96145114G>ACA371751767GDF6c.817C>T (p.Gln273Ter)
c.755C>T (p.Pro252Leu)
c.418C>T (p.Gln140Ter)
 gnomAD v4
8g.96145114G>CCA371751768GDF6c.817C>G (p.Gln273Glu)
c.755C>G (p.Pro252Arg)
c.418C>G (p.Gln140Glu)
 gnomAD v4
8g.96145114G=CA1804261851GDF6c.817C= (p.Gln273=)
c.755C= (p.Pro252=)
c.418C= (p.Gln140=)
8g.96145114G>TCA4815404GDF6c.817C>A (p.Gln273Lys)
c.755C>A (p.Pro252Gln)
c.418C>A (p.Gln140Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145117delCA583845612GDF6c.817del (p.Gln273ArgfsTer?)
c.755del (p.Pro252GlnfsTer?)
c.418del (p.Gln140ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
8g.96145115G>ACA371751769GDF6c.816C>T (p.Pro272=)
c.754C>T (p.Pro252Ser)
c.417C>T (p.Pro139=)
 gnomAD v4
8g.96145115G>CCA371751771GDF6c.816C>G (p.Pro272=)
c.754C>G (p.Pro252Ala)
c.417C>G (p.Pro139=)
 gnomAD v4
8g.96145115G>TCA371751770GDF6c.816C>A (p.Pro272=)
c.754C>A (p.Pro252Thr)
c.417C>A (p.Pro139=)
 gnomAD v4
8g.96145116G>ACA4815405GDF6c.815C>T (p.Pro272Leu)
c.753C>T (p.Ser251=)
c.416C>T (p.Pro139Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145116G>CCA371751772GDF6c.815C>G (p.Pro272Arg)
c.753C>G (p.Ser251=)
c.416C>G (p.Pro139Arg)
8g.96145116G=CA1804261863GDF6c.815C= (p.Pro272=)
c.753C= (p.Ser251=)
c.416C= (p.Pro139=)
8g.96145116G>TCA371751773GDF6c.815C>A (p.Pro272His)
c.753C>A (p.Ser251=)
c.416C>A (p.Pro139His)
 gnomAD v4
8g.96145117G>ACA4815406GDF6c.814C>T (p.Pro272Ser)
c.752C>T (p.Ser251Phe)
c.415C>T (p.Pro139Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145117G>CCA371751774GDF6c.814C>G (p.Pro272Ala)
c.752C>G (p.Ser251Cys)
c.415C>G (p.Pro139Ala)
 gnomAD v4
8g.96145117G=CA1804261877GDF6c.814C= (p.Pro272=)
c.752C= (p.Ser251=)
c.415C= (p.Pro139=)
8g.96145117G>TCA371751775GDF6c.814C>A (p.Pro272Thr)
c.752C>A (p.Ser251Tyr)
c.415C>A (p.Pro139Thr)
 gnomAD v4
8g.96145118A>CCA371751776GDF6c.813T>G (p.Pro271=)
c.751T>G (p.Ser251Ala)
c.414T>G (p.Pro138=)
8g.96145118A>GCA371751777GDF6c.813T>C (p.Pro271=)
c.751T>C (p.Ser251Pro)
c.414T>C (p.Pro138=)
 gnomAD v4
8g.96145118A>TCA371751778GDF6c.813T>A (p.Pro271=)
c.751T>A (p.Ser251Thr)
c.414T>A (p.Pro138=)
8g.96145119G>ACA371751779GDF6c.812C>T (p.Pro271Leu)
c.750C>T (p.Ala250=)
c.413C>T (p.Pro138Leu)
 ClinVar dbSNP gnomAD v4
8g.96145119G>CCA371751780GDF6c.812C>G (p.Pro271Arg)
c.750C>G (p.Ala250=)
c.413C>G (p.Pro138Arg)
8g.96145119G>TCA371751781GDF6c.812C>A (p.Pro271His)
c.750C>A (p.Ala250=)
c.413C>A (p.Pro138His)
 gnomAD v4
8g.96145120G>ACA371751782GDF6c.811C>T (p.Pro271Ser)
c.749C>T (p.Ala250Val)
c.412C>T (p.Pro138Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145120G>CCA371751784GDF6c.811C>G (p.Pro271Ala)
c.749C>G (p.Ala250Gly)
c.412C>G (p.Pro138Ala)
8g.96145120G=CA1804261886GDF6c.811C= (p.Pro271=)
c.749C= (p.Ala250=)
c.412C= (p.Pro138=)
8g.96145120G>TCA371751783GDF6c.811C>A (p.Pro271Thr)
c.749C>A (p.Ala250Asp)
c.412C>A (p.Pro138Thr)
 gnomAD v4 COSMIC
8g.96145121C>ACA371751785GDF6c.810G>T (p.Arg270=)
c.748G>T (p.Ala250Ser)
c.411G>T (p.Arg137=)
 gnomAD v4
8g.96145121C=CA1804261890GDF6c.810G= (p.Arg270=)
c.748G= (p.Ala250=)
c.411G= (p.Arg137=)
8g.96145121C>GCA371751786GDF6c.810G>C (p.Arg270=)
c.748G>C (p.Ala250Pro)
c.411G>C (p.Arg137=)
8g.96145121C>TCA371751787GDF6c.810G>A (p.Arg270=)
c.748G>A (p.Ala250Thr)
c.411G>A (p.Arg137=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145122delCA2687993827GDF6c.810del (p.Pro271LeufsTer?)
c.748del (p.Ala250ProfsTer?)
c.411del (p.Pro138LeufsTer?)
 gnomAD v4
8g.96145122C>ACA371751788GDF6c.809G>T (p.Arg270Leu)
c.747G>T (p.Ala249=)
c.410G>T (p.Arg137Leu)
 gnomAD v4
8g.96145122C=CA1804261899GDF6c.809G= (p.Arg270=)
c.747G= (p.Ala249=)
c.410G= (p.Arg137=)
8g.96145122C>GCA371751789GDF6c.809G>C (p.Arg270Pro)
c.747G>C (p.Ala249=)
c.410G>C (p.Arg137Pro)
8g.96145122C>TCA4815407GDF6c.809G>A (p.Arg270Gln)
c.747G>A (p.Ala249=)
c.410G>A (p.Arg137Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145123G>ACA181485034GDF6c.808C>T (p.Arg270Trp)
c.746C>T (p.Ala249Val)
c.409C>T (p.Arg137Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96145123G>CCA371751790GDF6c.808C>G (p.Arg270Gly)
c.746C>G (p.Ala249Gly)
c.409C>G (p.Arg137Gly)
 gnomAD v4
8g.96145123G=CA1804261901GDF6c.808C= (p.Arg270=)
c.746C= (p.Ala249=)
c.409C= (p.Arg137=)
8g.96145123G>TCA371751791GDF6c.808C>A (p.Arg270=)
c.746C>A (p.Ala249Glu)
c.409C>A (p.Arg137=)
 gnomAD v4
8g.96145124C>ACA371751792GDF6c.807G>T (p.Val269=)
c.745G>T (p.Ala249Ser)
c.408G>T (p.Val136=)
 dbSNP gnomAD v4
8g.96145124C>GCA371751793GDF6c.807G>C (p.Val269=)
c.745G>C (p.Ala249Pro)
c.408G>C (p.Val136=)
 gnomAD v4
8g.96145124C>TCA371751794GDF6c.807G>A (p.Val269=)
c.745G>A (p.Ala249Thr)
c.408G>A (p.Val136=)
 gnomAD v4
8g.96145125_96145126delCA2687993831GDF6c.806_807del (p.Val269AlafsTer?)
c.744_745del (p.Ala249GlyfsTer?)
c.407_408del (p.Val136AlafsTer?)
 gnomAD v4
8g.96145125A=CA1804261904GDF6c.806T= (p.Val269=)
c.744T= (p.Gly248=)
c.407T= (p.Val136=)
8g.96145125A>CCA371751797GDF6c.806T>G (p.Val269Gly)
c.744T>G (p.Gly248=)
c.407T>G (p.Val136Gly)
 dbSNP gnomAD v4
8g.96145125A>GCA371751795GDF6c.806T>C (p.Val269Ala)
c.744T>C (p.Gly248=)
c.407T>C (p.Val136Ala)
 gnomAD v4
8g.96145125A>TCA371751796GDF6c.806T>A (p.Val269Glu)
c.744T>A (p.Gly248=)
c.407T>A (p.Val136Glu)
8g.96145126C>ACA371751798GDF6c.805G>T (p.Val269Leu)
c.743G>T (p.Gly248Val)
c.406G>T (p.Val136Leu)
 gnomAD v4
8g.96145126C>GCA371751799GDF6c.805G>C (p.Val269Leu)
c.743G>C (p.Gly248Ala)
c.406G>C (p.Val136Leu)
 gnomAD v4
8g.96145126C>TCA371751800GDF6c.805G>A (p.Val269Met)
c.743G>A (p.Gly248Asp)
c.406G>A (p.Val136Met)
 gnomAD v4
8g.96145128delCA2717941194GDF6c.805del (p.Val269CysfsTer?)
c.743del (p.Gly248ValfsTer?)
c.406del (p.Val136CysfsTer?)
 dbSNP
8g.96145127C>ACA371751801GDF6c.804G>T (p.Arg268Ser)
c.742G>T (p.Gly248Cys)
c.405G>T (p.Arg135Ser)
 gnomAD v4
8g.96145127C>GCA371751802GDF6c.804G>C (p.Arg268Ser)
c.742G>C (p.Gly248Arg)
c.405G>C (p.Arg135Ser)
8g.96145127C>TCA371751803GDF6c.804G>A (p.Arg268=)
c.742G>A (p.Gly248Ser)
c.405G>A (p.Arg135=)
 gnomAD v4 COSMIC
8g.96145128C>ACA181485035GDF6c.803G>T (p.Arg268Met)
c.741G>T (p.Glu247Asp)
c.404G>T (p.Arg135Met)
 dbSNP gnomAD v4
8g.96145128C=CA1804261907GDF6c.803G= (p.Arg268=)
c.741G= (p.Glu247=)
c.404G= (p.Arg135=)
8g.96145128C>GCA371751804GDF6c.803G>C (p.Arg268Thr)
c.741G>C (p.Glu247Asp)
c.404G>C (p.Arg135Thr)
8g.96145128C>TCA371751805GDF6c.803G>A (p.Arg268Lys)
c.741G>A (p.Glu247=)
c.404G>A (p.Arg135Lys)
 gnomAD v4
8g.96145129T>ACA371751806GDF6c.802A>T (p.Arg268Trp)
c.740A>T (p.Glu247Val)
c.403A>T (p.Arg135Trp)
 gnomAD v4
8g.96145129T>CCA371751807GDF6c.802A>G (p.Arg268Gly)
c.740A>G (p.Glu247Gly)
c.403A>G (p.Arg135Gly)
 gnomAD v4
8g.96145129T>GCA371751808GDF6c.802A>C (p.Arg268=)
c.740A>C (p.Glu247Ala)
c.403A>C (p.Arg135=)
 gnomAD v4
8g.96145130C>ACA371751810GDF6c.801G>T (p.Arg267=)
c.739G>T (p.Glu247Ter)
c.402G>T (p.Arg134=)
 gnomAD v4
8g.96145130C>GCA371751811GDF6c.801G>C (p.Arg267=)
c.739G>C (p.Glu247Gln)
c.402G>C (p.Arg134=)
 gnomAD v4 COSMIC
8g.96145130C>TCA371751809GDF6c.801G>A (p.Arg267=)
c.739G>A (p.Glu247Lys)
c.402G>A (p.Arg134=)
 gnomAD v4
8g.96145131C>ACA181485036GDF6c.800G>T (p.Arg267Leu)
c.738G>T (p.Pro246=)
c.401G>T (p.Arg134Leu)
 dbSNP gnomAD v4
8g.96145131C=CA1804261912GDF6c.800G= (p.Arg267=)
c.738G= (p.Pro246=)
c.401G= (p.Arg134=)
8g.96145131C>GCA371751813GDF6c.800G>C (p.Arg267Pro)
c.738G>C (p.Pro246=)
c.401G>C (p.Arg134Pro)
8g.96145131C>TCA371751812GDF6c.800G>A (p.Arg267Gln)
c.738G>A (p.Pro246=)
c.401G>A (p.Arg134Gln)
 dbSNP gnomAD v4 COSMIC
8g.96145132G>ACA371751814GDF6c.799C>T (p.Arg267Trp)
c.737C>T (p.Pro246Leu)
c.400C>T (p.Arg134Trp)
 gnomAD v4
8g.96145132G>CCA371751816GDF6c.799C>G (p.Arg267Gly)
c.737C>G (p.Pro246Arg)
c.400C>G (p.Arg134Gly)
8g.96145132G>TCA371751815GDF6c.799C>A (p.Arg267=)
c.737C>A (p.Pro246Gln)
c.400C>A (p.Arg134=)
 gnomAD v4
8g.96145133delCA2687993833GDF6c.799del (p.Arg267GlyfsTer?)
c.737del (p.Pro246ArgfsTer?)
c.400del (p.Arg134GlyfsTer?)
 gnomAD v4
8g.96145133G>ACA371751817GDF6c.798C>T (p.Gly266=)
c.736C>T (p.Pro246Ser)
c.399C>T (p.Gly133=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145133G>CCA371751819GDF6c.798C>G (p.Gly266=)
c.736C>G (p.Pro246Ala)
c.399C>G (p.Gly133=)
8g.96145133G=CA1804261916GDF6c.798C= (p.Gly266=)
c.736C= (p.Pro246=)
c.399C= (p.Gly133=)
8g.96145133G>TCA371751818GDF6c.798C>A (p.Gly266=)
c.736C>A (p.Pro246Thr)
c.399C>A (p.Gly133=)
 dbSNP gnomAD v3 gnomAD v4
8g.96145134C>ACA371751820GDF6c.797G>T (p.Gly266Val)
c.735G>T (p.Arg245=)
c.398G>T (p.Gly133Val)
 gnomAD v4
8g.96145134C=CA1804261928GDF6c.797G= (p.Gly266=)
c.735G= (p.Arg245=)
c.398G= (p.Gly133=)
8g.96145134C>GCA371751821GDF6c.797G>C (p.Gly266Ala)
c.735G>C (p.Arg245=)
c.398G>C (p.Gly133Ala)
 dbSNP
8g.96145134C>TCA371751822GDF6c.797G>A (p.Gly266Asp)
c.735G>A (p.Arg245=)
c.398G>A (p.Gly133Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.96145135C>ACA371751823GDF6c.796G>T (p.Gly266Cys)
c.734G>T (p.Arg245Leu)
c.397G>T (p.Gly133Cys)
 gnomAD v4
8g.96145135C=CA1804261931GDF6c.796G= (p.Gly266=)
c.734G= (p.Arg245=)
c.397G= (p.Gly133=)
8g.96145135C>GCA371751824GDF6c.796G>C (p.Gly266Arg)
c.734G>C (p.Arg245Pro)
c.397G>C (p.Gly133Arg)
8g.96145135C>TCA371751825GDF6c.796G>A (p.Gly266Ser)
c.734G>A (p.Arg245Gln)
c.397G>A (p.Gly133Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.96145136G>ACA371751826GDF6c.795C>T (p.Phe265=)
c.733C>T (p.Arg245Trp)
c.396C>T (p.Phe132=)
 gnomAD v4
8g.96145136G>CCA371751827GDF6c.795C>G (p.Phe265Leu)
c.733C>G (p.Arg245Gly)
c.396C>G (p.Phe132Leu)
8g.96145136G>TCA371751828GDF6c.795C>A (p.Phe265Leu)
c.733C>A (p.Arg245=)
c.396C>A (p.Phe132Leu)
 gnomAD v4
8g.96145137A>CCA371751829GDF6c.794T>G (p.Phe265Cys)
c.732T>G (p.Leu244=)
c.395T>G (p.Phe132Cys)
8g.96145137A>GCA371751830GDF6c.794T>C (p.Phe265Ser)
c.732T>C (p.Leu244=)
c.395T>C (p.Phe132Ser)
 gnomAD v4
8g.96145137A>TCA371751831GDF6c.794T>A (p.Phe265Tyr)
c.732T>A (p.Leu244=)
c.395T>A (p.Phe132Tyr)
8g.96145138A>CCA371751832GDF6c.793T>G (p.Phe265Val)
c.731T>G (p.Leu244Arg)
c.394T>G (p.Phe132Val)
8g.96145138A>GCA371751834GDF6c.793T>C (p.Phe265Leu)
c.731T>C (p.Leu244Pro)
c.394T>C (p.Phe132Leu)
 gnomAD v4
8g.96145138A>TCA371751833GDF6c.793T>A (p.Phe265Ile)
c.731T>A (p.Leu244His)
c.394T>A (p.Phe132Ile)
 gnomAD v4
8g.96145139G>ACA371751835GDF6c.792C>T (p.Gly264=)
c.730C>T (p.Leu244Phe)
c.393C>T (p.Gly131=)
 gnomAD v4
8g.96145139G>CCA371751836GDF6c.792C>G (p.Gly264=)
c.730C>G (p.Leu244Val)
c.393C>G (p.Gly131=)
8g.96145139G>TCA371751837GDF6c.792C>A (p.Gly264=)
c.730C>A (p.Leu244Ile)
c.393C>A (p.Gly131=)
 gnomAD v4
8g.96145140C>ACA371751838GDF6c.791G>T (p.Gly264Val)
c.729G>T (p.Gly243=)
c.392G>T (p.Gly131Val)
 dbSNP gnomAD v2 gnomAD v4
8g.96145140C=CA1804261937GDF6c.791G= (p.Gly264=)
c.729G= (p.Gly243=)
c.392G= (p.Gly131=)
8g.96145140C>GCA371751839GDF6c.791G>C (p.Gly264Ala)
c.729G>C (p.Gly243=)
c.392G>C (p.Gly131Ala)
8g.96145140C>TCA371751840GDF6c.791G>A (p.Gly264Asp)
c.729G>A (p.Gly243=)
c.392G>A (p.Gly131Asp)
 gnomAD v4
8g.96145142delCA2687993834GDF6c.791del (p.Gly264AlafsTer?)
c.729del (p.Leu244PhefsTer?)
c.392del (p.Gly131AlafsTer?)
 gnomAD v4
8g.96145141C>ACA371751841GDF6c.790G>T (p.Gly264Cys)
c.728G>T (p.Gly243Val)
c.391G>T (p.Gly131Cys)
 gnomAD v4 COSMIC
8g.96145141C=CA1804261942GDF6c.790G= (p.Gly264=)
c.728G= (p.Gly243=)
c.391G= (p.Gly131=)
8g.96145141C>GCA371751842GDF6c.790G>C (p.Gly264Arg)
c.728G>C (p.Gly243Ala)
c.391G>C (p.Gly131Arg)
8g.96145141C>TCA371751843GDF6c.790G>A (p.Gly264Ser)
c.728G>A (p.Gly243Glu)
c.391G>A (p.Gly131Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.96145142C>ACA371751845GDF6c.789G>T (p.Leu263=)
c.727G>T (p.Gly243Trp)
c.390G>T (p.Leu130=)
 gnomAD v4
8g.96145142C>GCA371751846GDF6c.789G>C (p.Leu263=)
c.727G>C (p.Gly243Arg)
c.390G>C (p.Leu130=)
8g.96145142C>TCA371751844GDF6c.789G>A (p.Leu263=)
c.727G>A (p.Gly243Arg)
c.390G>A (p.Leu130=)
 gnomAD v4
8g.96145143A>CCA371751847GDF6c.788T>G (p.Leu263Arg)
c.726T>G (p.Ser242=)
c.389T>G (p.Leu130Arg)
8g.96145143A>GCA371751848GDF6c.788T>C (p.Leu263Pro)
c.726T>C (p.Ser242=)
c.389T>C (p.Leu130Pro)
 dbSNP gnomAD v4
8g.96145143A>TCA371751849GDF6c.788T>A (p.Leu263Gln)
c.726T>A (p.Ser242=)
c.389T>A (p.Leu130Gln)
 gnomAD v4
8g.96145144G>ACA371751850GDF6c.787C>T (p.Leu263=)
c.725C>T (p.Ser242Phe)
c.388C>T (p.Leu130=)
 dbSNP gnomAD v4
8g.96145144G>CCA371751851GDF6c.787C>G (p.Leu263Val)
c.725C>G (p.Ser242Cys)
c.388C>G (p.Leu130Val)
 gnomAD v4
8g.96145144G>TCA371751852GDF6c.787C>A (p.Leu263Met)
c.725C>A (p.Ser242Tyr)
c.388C>A (p.Leu130Met)
 gnomAD v4
8g.96145145A>CCA371751853GDF6c.786T>G (p.Ser262Arg)
c.724T>G (p.Ser242Ala)
c.387T>G (p.Ser129Arg)
8g.96145145A>GCA371751854GDF6c.786T>C (p.Ser262=)
c.724T>C (p.Ser242Pro)
c.387T>C (p.Ser129=)
 gnomAD v4
8g.96145145A>TCA371751855GDF6c.786T>A (p.Ser262Arg)
c.724T>A (p.Ser242Thr)
c.387T>A (p.Ser129Arg)
8g.96145146C>ACA371751856GDF6c.785G>T (p.Ser262Ile)
c.723G>T (p.Glu241Asp)
c.386G>T (p.Ser129Ile)
 gnomAD v4
8g.96145146C=CA1804261948GDF6c.785G= (p.Ser262=)
c.723G= (p.Glu241=)
c.386G= (p.Ser129=)
8g.96145146C>GCA371751857GDF6c.785G>C (p.Ser262Thr)
c.723G>C (p.Glu241Asp)
c.386G>C (p.Ser129Thr)
 dbSNP gnomAD v2
8g.96145146C>TCA4815408GDF6c.785G>A (p.Ser262Asn)
c.723G>A (p.Glu241=)
c.386G>A (p.Ser129Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145147T>ACA371751860GDF6c.784A>T (p.Ser262Cys)
c.722A>T (p.Glu241Val)
c.385A>T (p.Ser129Cys)
 gnomAD v4
8g.96145147T>CCA371751858GDF6c.784A>G (p.Ser262Gly)
c.722A>G (p.Glu241Gly)
c.385A>G (p.Ser129Gly)
 gnomAD v4
8g.96145147T>GCA371751859GDF6c.784A>C (p.Ser262Arg)
c.722A>C (p.Glu241Ala)
c.385A>C (p.Ser129Arg)
8g.96145148C>ACA371751861GDF6c.783G>T (p.Arg261=)
c.721G>T (p.Glu241Ter)
c.384G>T (p.Arg128=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145148C=CA1804261959GDF6c.783G= (p.Arg261=)
c.721G= (p.Glu241=)
c.384G= (p.Arg128=)
8g.96145148C>GCA371751862GDF6c.783G>C (p.Arg261=)
c.721G>C (p.Glu241Gln)
c.384G>C (p.Arg128=)
 dbSNP gnomAD v4
8g.96145148C>TCA371751863GDF6c.783G>A (p.Arg261=)
c.721G>A (p.Glu241Lys)
c.384G>A (p.Arg128=)
 gnomAD v4
8g.96145149C>ACA371751864GDF6c.782G>T (p.Arg261Leu)
c.720G>T (p.Ala240=)
c.383G>T (p.Arg128Leu)
 gnomAD v4
8g.96145149C>GCA371751865GDF6c.782G>C (p.Arg261Pro)
c.720G>C (p.Ala240=)
c.383G>C (p.Arg128Pro)
8g.96145149C>TCA371751866GDF6c.782G>A (p.Arg261Gln)
c.720G>A (p.Ala240=)
c.383G>A (p.Arg128Gln)
 gnomAD v4 COSMIC
8g.96145150G>ACA371751867GDF6c.781C>T (p.Arg261Trp)
c.719C>T (p.Ala240Val)
c.382C>T (p.Arg128Trp)
 gnomAD v4
8g.96145150G>CCA371751868GDF6c.781C>G (p.Arg261Gly)
c.719C>G (p.Ala240Gly)
c.382C>G (p.Arg128Gly)
8g.96145150G>TCA371751869GDF6c.781C>A (p.Arg261=)
c.719C>A (p.Ala240Glu)
c.382C>A (p.Arg128=)
 gnomAD v4 COSMIC
8g.96145151C>ACA371751870GDF6c.780G>T (p.Leu260=)
c.718G>T (p.Ala240Ser)
c.381G>T (p.Leu127=)
 gnomAD v4
8g.96145151C>GCA371751871GDF6c.780G>C (p.Leu260=)
c.718G>C (p.Ala240Pro)
c.381G>C (p.Leu127=)
8g.96145151C>TCA371751872GDF6c.780G>A (p.Leu260=)
c.718G>A (p.Ala240Thr)
c.381G>A (p.Leu127=)
 gnomAD v4
8g.96145152A=CA1804261967GDF6c.779T= (p.Leu260=)
c.717T= (p.Pro239=)
c.380T= (p.Leu127=)
8g.96145152A>CCA371751875GDF6c.779T>G (p.Leu260Arg)
c.717T>G (p.Pro239=)
c.380T>G (p.Leu127Arg)
 dbSNP gnomAD v2 gnomAD v4
8g.96145152A>GCA371751874GDF6c.779T>C (p.Leu260Pro)
c.717T>C (p.Pro239=)
c.380T>C (p.Leu127Pro)
 gnomAD v4
8g.96145152A>TCA371751873GDF6c.779T>A (p.Leu260Gln)
c.717T>A (p.Pro239=)
c.380T>A (p.Leu127Gln)
 gnomAD v4
8g.96145153G>ACA371751876GDF6c.778C>T (p.Leu260=)
c.716C>T (p.Pro239Leu)
c.379C>T (p.Leu127=)
 gnomAD v4
8g.96145153G>CCA371751877GDF6c.778C>G (p.Leu260Val)
c.716C>G (p.Pro239Arg)
c.379C>G (p.Leu127Val)
8g.96145153G>TCA371751878GDF6c.778C>A (p.Leu260Met)
c.716C>A (p.Pro239His)
c.379C>A (p.Leu127Met)
 gnomAD v4
8g.96145154G>ACA371751879GDF6c.777C>T (p.Asp259=)
c.715C>T (p.Pro239Ser)
c.378C>T (p.Asp126=)
 gnomAD v4
8g.96145154G>CCA371751880GDF6c.777C>G (p.Asp259Glu)
c.715C>G (p.Pro239Ala)
c.378C>G (p.Asp126Glu)
8g.96145154G>TCA371751881GDF6c.777C>A (p.Asp259Glu)
c.715C>A (p.Pro239Thr)
c.378C>A (p.Asp126Glu)
 gnomAD v4
8g.96145155T>ACA371751884GDF6c.776A>T (p.Asp259Val)
c.714A>T (p.Gly238=)
c.377A>T (p.Asp126Val)
8g.96145155T>CCA371751883GDF6c.776A>G (p.Asp259Gly)
c.714A>G (p.Gly238=)
c.377A>G (p.Asp126Gly)
 gnomAD v4
8g.96145155T>GCA371751882GDF6c.776A>C (p.Asp259Ala)
c.714A>C (p.Gly238=)
c.377A>C (p.Asp126Ala)
8g.96145156C>ACA371751885GDF6c.775G>T (p.Asp259Tyr)
c.713G>T (p.Gly238Val)
c.376G>T (p.Asp126Tyr)
 gnomAD v4
8g.96145156C>GCA371751886GDF6c.775G>C (p.Asp259His)
c.713G>C (p.Gly238Ala)
c.376G>C (p.Asp126His)
8g.96145156C>TCA371751887GDF6c.775G>A (p.Asp259Asn)
c.713G>A (p.Gly238Glu)
c.376G>A (p.Asp126Asn)
 gnomAD v4
8g.96145157C>ACA4815409GDF6c.774G>T (p.Pro258=)
c.712G>T (p.Gly238Ter)
c.375G>T (p.Pro125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145157C=CA1804261973GDF6c.774G= (p.Pro258=)
c.712G= (p.Gly238=)
c.375G= (p.Pro125=)
8g.96145157C>GCA371751888GDF6c.774G>C (p.Pro258=)
c.712G>C (p.Gly238Arg)
c.375G>C (p.Pro125=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.96145157C>TCA371751889GDF6c.774G>A (p.Pro258=)
c.712G>A (p.Gly238Arg)
c.375G>A (p.Pro125=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145158G>ACA371751890GDF6c.773C>T (p.Pro258Leu)
c.711C>T (p.Pro237=)
c.374C>T (p.Pro125Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.96145158G>CCA371751892GDF6c.773C>G (p.Pro258Arg)
c.711C>G (p.Pro237=)
c.374C>G (p.Pro125Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.96145158G=CA1804261977GDF6c.773C= (p.Pro258=)
c.711C= (p.Pro237=)
c.374C= (p.Pro125=)
8g.96145158G>TCA371751891GDF6c.773C>A (p.Pro258Gln)
c.711C>A (p.Pro237=)
c.374C>A (p.Pro125Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.96145162dupCA2687993835GDF6c.773dup (p.Asp259GlyfsTer?)
c.711dup (p.Gly238ArgfsTer?)
c.374dup (p.Asp126GlyfsTer?)
 gnomAD v4
8g.96145162delCA583845613GDF6c.773del (p.Pro258ArgfsTer?)
c.711del (p.Gly238AspfsTer?)
c.374del (p.Pro125ArgfsTer?)
 gnomAD v2 gnomAD v4
8g.96145159G>ACA371751893GDF6c.772C>T (p.Pro258Ser)
c.710C>T (p.Pro237Leu)
c.373C>T (p.Pro125Ser)
 gnomAD v4
8g.96145159G>CCA371751894GDF6c.772C>G (p.Pro258Ala)
c.710C>G (p.Pro237Arg)
c.373C>G (p.Pro125Ala)
8g.96145159G>TCA371751895GDF6c.772C>A (p.Pro258Thr)
c.710C>A (p.Pro237His)
c.373C>A (p.Pro125Thr)
 gnomAD v4 COSMIC
8g.96145160G>ACA371751896GDF6c.771C>T (p.Pro257=)
c.709C>T (p.Pro237Ser)
c.372C>T (p.Pro124=)
 gnomAD v4
8g.96145160G>CCA371751897GDF6c.771C>G (p.Pro257=)
c.709C>G (p.Pro237Ala)
c.372C>G (p.Pro124=)
 gnomAD v4
8g.96145160G>TCA371751898GDF6c.771C>A (p.Pro257=)
c.709C>A (p.Pro237Thr)
c.372C>A (p.Pro124=)
 gnomAD v4
8g.96145161G>ACA10631741GDF6c.770C>T (p.Pro257Leu)
c.708C>T (p.Ala236=)
c.371C>T (p.Pro124Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145161G>CCA371751899GDF6c.770C>G (p.Pro257Arg)
c.708C>G (p.Ala236=)
c.371C>G (p.Pro124Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.96145161G=CA1804261990GDF6c.770C= (p.Pro257=)
c.708C= (p.Ala236=)
c.371C= (p.Pro124=)
8g.96145161G>TCA371751900GDF6c.770C>A (p.Pro257His)
c.708C>A (p.Ala236=)
c.371C>A (p.Pro124His)
 gnomAD v4
8g.96145162G>ACA4815410GDF6c.769C>T (p.Pro257Ser)
c.707C>T (p.Ala236Val)
c.370C>T (p.Pro124Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145162G>CCA371751901GDF6c.769C>G (p.Pro257Ala)
c.707C>G (p.Ala236Gly)
c.370C>G (p.Pro124Ala)
 gnomAD v4
8g.96145162G=CA1804262005GDF6c.769C= (p.Pro257=)
c.707C= (p.Ala236=)
c.370C= (p.Pro124=)
8g.96145162G>TCA371751902GDF6c.769C>A (p.Pro257Thr)
c.707C>A (p.Ala236Asp)
c.370C>A (p.Pro124Thr)
 gnomAD v4
8g.96145163C>ACA371751903GDF6c.768G>T (p.Pro256=)
c.707-1G>T (n.707-1G>T)
c.369G>T (p.Pro123=)
 gnomAD v4
8g.96145163C=CA1804262014GDF6c.768G= (p.Pro256=)
c.707-1G= (n.707-1G=)
c.369G= (p.Pro123=)
8g.96145163C>GCA371751905GDF6c.768G>C (p.Pro256=)
c.707-1G>C (n.707-1G>C)
c.369G>C (p.Pro123=)
 dbSNP gnomAD v4
8g.96145163C>TCA371751904GDF6c.768G>A (p.Pro256=)
c.707-1G>A (n.707-1G>A)
c.369G>A (p.Pro123=)
 gnomAD v4
8g.96145164G>ACA371751906GDF6c.767C>T (p.Pro256Leu)
c.707-2C>T (n.707-2C>T)
c.368C>T (p.Pro123Leu)
 ClinVar dbSNP gnomAD v4
8g.96145164G>CCA371751907GDF6c.767C>G (p.Pro256Arg)
c.707-2C>G (n.707-2C>G)
c.368C>G (p.Pro123Arg)
 gnomAD v4
8g.96145164G=CA1804262016GDF6c.767C= (p.Pro256=)
c.707-2C= (n.707-2C=)
c.368C= (p.Pro123=)
8g.96145164G>TCA371751908GDF6c.767C>A (p.Pro256Gln)
c.707-2C>A (n.707-2C>A)
c.368C>A (p.Pro123Gln)
 gnomAD v4
8g.96145165G>ACA371751909GDF6c.766C>T (p.Pro256Ser)
c.707-3C>T (n.707-3C>T)
c.367C>T (p.Pro123Ser)
 gnomAD v4
8g.96145165G>CCA371751910GDF6c.766C>G (p.Pro256Ala)
c.707-3C>G (n.707-3C>G)
c.367C>G (p.Pro123Ala)
 dbSNP gnomAD v4
8g.96145165G=CA1804262019GDF6c.766C= (p.Pro256=)
c.707-3C= (n.707-3C=)
c.367C= (p.Pro123=)
8g.96145165G>TCA371751911GDF6c.766C>A (p.Pro256Thr)
c.707-3C>A (n.707-3C>A)
c.367C>A (p.Pro123Thr)
 gnomAD v4
8g.96145166C>ACA181485037GDF6c.765G>T (p.Pro255=)
c.707-4G>T (n.707-4G>T)
c.366G>T (p.Pro122=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145166C=CA1804262020GDF6c.765G= (p.Pro255=)
c.707-4G= (n.707-4G=)
c.366G= (p.Pro122=)
8g.96145166C>GCA462454570GDF6c.765G>C (p.Pro255=)
c.707-4G>C (n.707-4G>C)
c.366G>C (p.Pro122=)
8g.96145166C>TCA462454572GDF6c.765G>A (p.Pro255=)
c.707-4G>A (n.707-4G>A)
c.366G>A (p.Pro122=)
 gnomAD v4
8g.96145167G>ACA4815411GDF6c.764C>T (p.Pro255Leu)
c.707-5C>T (n.707-5C>T)
c.365C>T (p.Pro122Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.96145167G>CCA371751912GDF6c.764C>G (p.Pro255Arg)
c.707-5C>G (n.707-5C>G)
c.365C>G (p.Pro122Arg)
8g.96145167G=CA1804262025GDF6c.764C= (p.Pro255=)
c.707-5C= (n.707-5C=)
c.365C= (p.Pro122=)
8g.96145167G>TCA371751913GDF6c.764C>A (p.Pro255Gln)
c.707-5C>A (n.707-5C>A)
c.365C>A (p.Pro122Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96145168G>ACA371751914GDF6c.763C>T (p.Pro255Ser)
c.707-6C>T (n.707-6C>T)
c.364C>T (p.Pro122Ser)
 gnomAD v4
8g.96145168G>CCA371751915GDF6c.763C>G (p.Pro255Ala)
c.707-6C>G (n.707-6C>G)
c.364C>G (p.Pro122Ala)
8g.96145168G>TCA371751916GDF6c.763C>A (p.Pro255Thr)
c.707-6C>A (n.707-6C>A)
c.364C>A (p.Pro122Thr)
 gnomAD v4
8g.96145169T>ACA371751918GDF6c.762A>T (p.Gln254His)
c.707-7A>T (n.707-7A>T)
c.363A>T (p.Gln121His)
8g.96145169T>CCA462454573GDF6c.762A>G (p.Gln254=)
c.707-7A>G (n.707-7A>G)
c.363A>G (p.Gln121=)
8g.96145169T>GCA371751917GDF6c.762A>C (p.Gln254His)
c.707-7A>C (n.707-7A>C)
c.363A>C (p.Gln121His)
 dbSNP
8g.96145170T>ACA371751919GDF6c.761A>T (p.Gln254Leu)
c.707-8A>T (n.707-8A>T)
c.362A>T (p.Gln121Leu)
8g.96145170T>CCA371751920GDF6c.761A>G (p.Gln254Arg)
c.707-8A>G (n.707-8A>G)
c.362A>G (p.Gln121Arg)
 gnomAD v4
8g.96145170T>GCA371751921GDF6c.761A>C (p.Gln254Pro)
c.707-8A>C (n.707-8A>C)
c.362A>C (p.Gln121Pro)
8g.96145171G>ACA371751922GDF6c.760C>T (p.Gln254Ter)
c.707-9C>T (n.707-9C>T)
c.361C>T (p.Gln121Ter)
 gnomAD v4
8g.96145171G>CCA371751923GDF6c.760C>G (p.Gln254Glu)
c.707-9C>G (n.707-9C>G)
c.361C>G (p.Gln121Glu)
8g.96145171G>TCA371751924GDF6c.760C>A (p.Gln254Lys)
c.707-9C>A (n.707-9C>A)
c.361C>A (p.Gln121Lys)
 gnomAD v4
8g.96145172C>ACA371751925GDF6c.759G>T (p.Gln253His)
c.707-10G>T (n.707-10G>T)
c.360G>T (p.Gln120His)
 gnomAD v4
8g.96145172C=CA1804262034GDF6c.759G= (p.Gln253=)
c.707-10G= (n.707-10G=)
c.360G= (p.Gln120=)
8g.96145172C>GCA371751926GDF6c.759G>C (p.Gln253His)
c.707-10G>C (n.707-10G>C)
c.360G>C (p.Gln120His)
8g.96145172C>TCA4815412GDF6c.759G>A (p.Gln253=)
c.707-10G>A (n.707-10G>A)
c.360G>A (p.Gln120=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145173T>ACA119559GDF6c.758A>T (p.Gln253Leu)
c.707-11A>T (n.707-11A>T)
c.359A>T (p.Gln120Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145173T>CCA371751927GDF6c.758A>G (p.Gln253Arg)
c.707-11A>G (n.707-11A>G)
c.359A>G (p.Gln120Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.96145173T>GCA371751928GDF6c.758A>C (p.Gln253Pro)
c.707-11A>C (n.707-11A>C)
c.359A>C (p.Gln120Pro)
 gnomAD v4
8g.96145173T=CA1804262041GDF6c.758A= (p.Gln253=)
c.707-11A= (n.707-11A=)
c.359A= (p.Gln120=)
8g.96145174G>ACA371751931GDF6c.757C>T (p.Gln253Ter)
c.707-12C>T (n.707-12C>T)
c.358C>T (p.Gln120Ter)
 gnomAD v4
8g.96145174G>CCA371751930GDF6c.757C>G (p.Gln253Glu)
c.707-12C>G (n.707-12C>G)
c.358C>G (p.Gln120Glu)
8g.96145174G>TCA371751929GDF6c.757C>A (p.Gln253Lys)
c.707-12C>A (n.707-12C>A)
c.358C>A (p.Gln120Lys)
 gnomAD v4
8g.96145177delCA2687993836GDF6c.757del (p.Gln253SerfsTer?)
c.707-12del (n.707-12del)
c.358del (p.Gln120SerfsTer?)
 gnomAD v4
8g.96145175G>ACA4815413GDF6c.756C>T (p.Pro252=)
c.707-13C>T (n.707-13C>T)
c.357C>T (p.Pro119=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145175G>CCA462454582GDF6c.756C>G (p.Pro252=)
c.707-13C>G (n.707-13C>G)
c.357C>G (p.Pro119=)
8g.96145175G=CA1804262052GDF6c.756C= (p.Pro252=)
c.707-13C= (n.707-13C=)
c.357C= (p.Pro119=)
8g.96145175G>TCA462454583GDF6c.756C>A (p.Pro252=)
c.707-13C>A (n.707-13C>A)
c.357C>A (p.Pro119=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145176G>ACA371751933GDF6c.755C>T (p.Pro252Leu)
c.707-14C>T (n.707-14C>T)
c.356C>T (p.Pro119Leu)
 gnomAD v4
8g.96145176G>CCA371751932GDF6c.755C>G (p.Pro252Arg)
c.707-14C>G (n.707-14C>G)
c.356C>G (p.Pro119Arg)
 ClinVar
8g.96145176G>TCA371751934GDF6c.755C>A (p.Pro252His)
c.707-14C>A (n.707-14C>A)
c.356C>A (p.Pro119His)
 gnomAD v4
8g.96145177G>ACA371751935GDF6c.754C>T (p.Pro252Ser)
c.707-15C>T (n.707-15C>T)
c.355C>T (p.Pro119Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.96145177G>CCA371751936GDF6c.754C>G (p.Pro252Ala)
c.707-15C>G (n.707-15C>G)
c.355C>G (p.Pro119Ala)
8g.96145177G=CA1804262061GDF6c.754C= (p.Pro252=)
c.707-15C= (n.707-15C=)
c.355C= (p.Pro119=)
8g.96145177G>TCA371751937GDF6c.754C>A (p.Pro252Thr)
c.707-15C>A (n.707-15C>A)
c.355C>A (p.Pro119Thr)
 gnomAD v4
8g.96145178T>ACA462454584GDF6c.753A>T (p.Gly251=)
c.707-16A>T (n.707-16A>T)
c.354A>T (p.Gly118=)
 gnomAD v4
8g.96145178T>CCA462454585GDF6c.753A>G (p.Gly251=)
c.707-16A>G (n.707-16A>G)
c.354A>G (p.Gly118=)
8g.96145178T>GCA462454586GDF6c.753A>C (p.Gly251=)
c.707-16A>C (n.707-16A>C)
c.354A>C (p.Gly118=)
 gnomAD v4
8g.96145179C>ACA371751938GDF6c.752G>T (p.Gly251Val)
c.707-17G>T (n.707-17G>T)
c.353G>T (p.Gly118Val)
 dbSNP gnomAD v3 gnomAD v4
8g.96145179C=CA1804262068GDF6c.752G= (p.Gly251=)
c.707-17G= (n.707-17G=)
c.353G= (p.Gly118=)
8g.96145179C>GCA371751939GDF6c.752G>C (p.Gly251Ala)
c.707-17G>C (n.707-17G>C)
c.353G>C (p.Gly118Ala)
8g.96145179C>TCA371751940GDF6c.752G>A (p.Gly251Glu)
c.707-17G>A (n.707-17G>A)
c.353G>A (p.Gly118Glu)
8g.96145182delCA2687993837GDF6c.752del (p.Gly251AspfsTer?)
c.707-17del (n.707-17del)
c.353del (p.Gly118AspfsTer?)
 gnomAD v4
8g.96145180C>ACA371751941GDF6c.751G>T (p.Gly251Ter)
c.707-18G>T (n.707-18G>T)
c.352G>T (p.Gly118Ter)
 gnomAD v4
8g.96145180C=CA1804262076GDF6c.751G= (p.Gly251=)
c.707-18G= (n.707-18G=)
c.352G= (p.Gly118=)
8g.96145180C>GCA371751942GDF6c.751G>C (p.Gly251Arg)
c.707-18G>C (n.707-18G>C)
c.352G>C (p.Gly118Arg)
8g.96145180C>TCA371751943GDF6c.751G>A (p.Gly251Arg)
c.707-18G>A (n.707-18G>A)
c.352G>A (p.Gly118Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96145181C>ACA462454591GDF6c.750G>T (p.Arg250=)
c.707-19G>T (n.707-19G>T)
c.351G>T (p.Arg117=)
 gnomAD v4
8g.96145181C>GCA462454593GDF6c.750G>C (p.Arg250=)
c.707-19G>C (n.707-19G>C)
c.351G>C (p.Arg117=)
8g.96145181C>TCA462454590GDF6c.750G>A (p.Arg250=)
c.707-19G>A (n.707-19G>A)
c.351G>A (p.Arg117=)
 gnomAD v4
8g.96145181_96145183delinsCCGCA1804262083GDF6c.748_750delinsCGG (p.Arg250=)
c.707-21_707-19delinsCGG (n.707-21_707-19delinsCGG)
c.349_351delinsCGG (p.Arg117=)
8g.96145181_96145182insACACA2781376672GDF6c.749_750insTGT (p.Arg250_Gly251insVal)
c.707-20_707-19insTGT (n.707-20_707-19insTGT)
c.350_351insTGT (p.Arg117_Gly118insVal)
8g.96145182C>ACA371751944GDF6c.749G>T (p.Arg250Leu)
c.707-20G>T (n.707-20G>T)
c.350G>T (p.Arg117Leu)
 gnomAD v4
8g.96145182C=CA1804262088GDF6c.749G= (p.Arg250=)
c.707-20G= (n.707-20G=)
c.350G= (p.Arg117=)
8g.96145182C>GCA4815415GDF6c.749G>C (p.Arg250Pro)
c.707-20G>C (n.707-20G>C)
c.350G>C (p.Arg117Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145182C>TCA371751945GDF6c.749G>A (p.Arg250Gln)
c.707-20G>A (n.707-20G>A)
c.350G>A (p.Arg117Gln)
 gnomAD v4
8g.96145191_96145192dupCA1116878490GDF6c.748_749dup (p.Pro252AspfsTer?)
c.707-21_707-20dup (n.707-21_707-20dup)
c.349_350dup (p.Pro119AspfsTer?)
 dbSNP gnomAD v3 gnomAD v4
8g.96145191_96145192delCA4815414GDF6c.748_749del (p.Arg250GlyfsTer?)
c.707-21_707-20del (n.707-21_707-20del)
c.349_350del (p.Arg117GlyfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.96145183G>ACA371751946GDF6c.748C>T (p.Arg250Trp)
c.707-21C>T (n.707-21C>T)
c.349C>T (p.Arg117Trp)
 gnomAD v4
8g.96145183G>CCA371751947GDF6c.748C>G (p.Arg250Gly)
c.707-21C>G (n.707-21C>G)
c.349C>G (p.Arg117Gly)
 gnomAD v4
8g.96145183G>TCA462454596GDF6c.748C>A (p.Arg250=)
c.707-21C>A (n.707-21C>A)
c.349C>A (p.Arg117=)
 gnomAD v4
8g.96145184C>ACA4815416GDF6c.747G>T (p.Ala249=)
c.707-22G>T (n.707-22G>T)
c.348G>T (p.Ala116=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.96145184C=CA1804262094GDF6c.747G= (p.Ala249=)
c.707-22G= (n.707-22G=)
c.348G= (p.Ala116=)
8g.96145184C>GCA462454601GDF6c.747G>C (p.Ala249=)
c.707-22G>C (n.707-22G>C)
c.348G>C (p.Ala116=)
8g.96145184C>TCA462454602GDF6c.747G>A (p.Ala249=)
c.707-22G>A (n.707-22G>A)
c.348G>A (p.Ala116=)
 gnomAD v4
8g.96145185G>ACA371751948GDF6c.746C>T (p.Ala249Val)
c.707-23C>T (n.707-23C>T)
c.347C>T (p.Ala116Val)
8g.96145185G>CCA371751949GDF6c.746C>G (p.Ala249Gly)
c.707-23C>G (n.707-23C>G)
c.347C>G (p.Ala116Gly)
8g.96145185G=CA1804262100GDF6c.746C= (p.Ala249=)
c.707-23C= (n.707-23C=)
c.347C= (p.Ala116=)
8g.96145185G>TCA119555GDF6c.746C>A (p.Ala249Glu)
c.707-23C>A (n.707-23C>A)
c.347C>A (p.Ala116Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145186C>ACA371751950GDF6c.745G>T (p.Ala249Ser)
c.707-24G>T (n.707-24G>T)
c.346G>T (p.Ala116Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.96145186C=CA1804262107GDF6c.745G= (p.Ala249=)
c.707-24G= (n.707-24G=)
c.346G= (p.Ala116=)
8g.96145186C>GCA371751951GDF6c.745G>C (p.Ala249Pro)
c.707-24G>C (n.707-24G>C)
c.346G>C (p.Ala116Pro)
8g.96145186C>TCA371751952GDF6c.745G>A (p.Ala249Thr)
c.707-24G>A (n.707-24G>A)
c.346G>A (p.Ala116Thr)
 gnomAD v4
8g.96145187G>ACA462454603GDF6c.744C>T (p.Arg248=)
c.707-25C>T (n.707-25C>T)
c.345C>T (p.Arg115=)
 dbSNP gnomAD v2 gnomAD v4
8g.96145187G>CCA462454604GDF6c.744C>G (p.Arg248=)
c.707-25C>G (n.707-25C>G)
c.345C>G (p.Arg115=)
 gnomAD v4
8g.96145187G=CA1804262110GDF6c.744C= (p.Arg248=)
c.707-25C= (n.707-25C=)
c.345C= (p.Arg115=)
8g.96145187G>TCA462454606GDF6c.744C>A (p.Arg248=)
c.707-25C>A (n.707-25C>A)
c.345C>A (p.Arg115=)
 gnomAD v4
8g.96145188C>ACA4815417GDF6c.743G>T (p.Arg248Leu)
c.707-26G>T (n.707-26G>T)
c.344G>T (p.Arg115Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145188C=CA1804262114GDF6c.743G= (p.Arg248=)
c.707-26G= (n.707-26G=)
c.344G= (p.Arg115=)
8g.96145188C>GCA371751953GDF6c.743G>C (p.Arg248Pro)
c.707-26G>C (n.707-26G>C)
c.344G>C (p.Arg115Pro)
8g.96145188C>TCA371751954GDF6c.743G>A (p.Arg248His)
c.707-26G>A (n.707-26G>A)
c.344G>A (p.Arg115His)
 gnomAD v4
8g.96145189G>ACA181485038GDF6c.742C>T (p.Arg248Cys)
c.707-27C>T (n.707-27C>T)
c.343C>T (p.Arg115Cys)
 ClinVar dbSNP gnomAD v4
8g.96145189G>CCA371751955GDF6c.742C>G (p.Arg248Gly)
c.707-27C>G (n.707-27C>G)
c.343C>G (p.Arg115Gly)
8g.96145189G=CA1804262122GDF6c.742C= (p.Arg248=)
c.707-27C= (n.707-27C=)
c.343C= (p.Arg115=)
8g.96145189G>TCA4815418GDF6c.742C>A (p.Arg248Ser)
c.707-27C>A (n.707-27C>A)
c.343C>A (p.Arg115Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145189_96145190delinsTTCA2573143518GDF6c.741_742delinsAA (p.Arg248Ser)
c.707-28_707-27delinsAA (n.707-28_707-27delinsAA)
c.342_343delinsAA (p.Arg115Ser)
 ClinVar dbSNP
8g.96145190C>ACA462454609GDF6c.741G>T (p.Ala247=)
c.707-28G>T (n.707-28G>T)
c.342G>T (p.Ala114=)
 gnomAD v4
8g.96145190C=CA1804262127GDF6c.741G= (p.Ala247=)
c.707-28G= (n.707-28G=)
c.342G= (p.Ala114=)
8g.96145190C>GCA462454611GDF6c.741G>C (p.Ala247=)
c.707-28G>C (n.707-28G>C)
c.342G>C (p.Ala114=)
8g.96145190C>TCA4815419GDF6c.741G>A (p.Ala247=)
c.707-28G>A (n.707-28G>A)
c.342G>A (p.Ala114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.96145191delCA2781376673GDF6c.740del (p.Ala247GlyfsTer?)
c.707-29del (n.707-29del)
c.341del (p.Ala114GlyfsTer?)
8g.96145191G>ACA371751956GDF6c.740C>T (p.Ala247Val)
c.707-29C>T (n.707-29C>T)
c.341C>T (p.Ala114Val)
 gnomAD v4
8g.96145191G>CCA371751957GDF6c.740C>G (p.Ala247Gly)
c.707-29C>G (n.707-29C>G)
c.341C>G (p.Ala114Gly)
8g.96145191G=CA1804262132GDF6c.740C= (p.Ala247=)
c.707-29C= (n.707-29C=)
c.341C= (p.Ala114=)
8g.96145191G>TCA371751958GDF6c.740C>A (p.Ala247Glu)
c.707-29C>A (n.707-29C>A)
c.341C>A (p.Ala114Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.96145192C>ACA371751959GDF6c.739G>T (p.Ala247Ser)
c.707-30G>T (n.707-30G>T)
c.340G>T (p.Ala114Ser)
 gnomAD v4
8g.96145192C>GCA371751960GDF6c.739G>C (p.Ala247Pro)
c.707-30G>C (n.707-30G>C)
c.340G>C (p.Ala114Pro)
8g.96145192C>TCA371751961GDF6c.739G>A (p.Ala247Thr)
c.707-30G>A (n.707-30G>A)
c.340G>A (p.Ala114Thr)
8g.96145193C>ACA371751962GDF6c.738G>T (p.Glu246Asp)
c.707-31G>T (n.707-31G>T)
c.339G>T (p.Glu113Asp)
 gnomAD v4
8g.96145193C>GCA371751963GDF6c.738G>C (p.Glu246Asp)
c.707-31G>C (n.707-31G>C)
c.339G>C (p.Glu113Asp)
8g.96145193C>TCA462454618GDF6c.738G>A (p.Glu246=)
c.707-31G>A (n.707-31G>A)
c.339G>A (p.Glu113=)

Number of alleles fetched