Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.11100225_11102665delCA916081220LDLRc.328_450del
c.70_192del
c.324_446del
c.70_190+2320del
n.156_278del
n.220_342del
n.187_309del
19g.11100222_11100345delinsGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTCA2322764682LDLRc.326-1_448delinsGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCT
c.68-1_190delinsGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCT
c.322-1_444delinsGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCT
n.154-1_276delinsGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCT
n.218-1_340delinsGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCT
n.185-1_307delinsGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCT
19g.11100222_11102787delCA658824386LDLRc.326-1_571+1del
c.68-1_313+1del
c.322-1_567+1del
c.68-1_191-2433del
n.154-1_400del
n.218-1_463+1del
n.185-1_430+1del
 ClinVar
19g.11100222_11107515delCA658824387LDLRc.326-1_1198+1del
c.68-1_940+1del
c.322-1_1194+1del
c.68-1_436+1del
c.68-1_817+1del
c.68-1_559+1del
n.218-1_1090+1del
n.185-1_1057+1del
 ClinVar
19g.11100223_11100345delCA645509253LDLRc.326_448del (p.Gly110_Leu150del)
c.68_190del (p.Gly24_Leu64del)
c.322_444del
c.68_190del (p.Val23_Ser64delinsAla)
n.154_276del
n.218_340del
n.185_307del
 ClinVar dbSNP
19g.11100312C>ACA404074930LDLRc.415C>A (p.Gln139Lys)
c.157C>A (p.Gln53Lys)
c.411C>A
n.243C>A
n.307C>A
n.274C>A
19g.11100312C=CA2322764754LDLRc.415C= (p.Gln139=)
c.157C= (p.Gln53=)
c.411C=
n.243C=
n.307C=
n.274C=
19g.11100312C>GCA404074932LDLRc.415C>G (p.Gln139Glu)
c.157C>G (p.Gln53Glu)
c.411C>G
n.243C>G
n.307C>G
n.274C>G
19g.11100312C>TCA10584770LDLRc.415C>T (p.Gln139Ter)
c.157C>T (p.Gln53Ter)
c.411C>T
n.243C>T
n.307C>T
n.274C>T
 ClinVar dbSNP
19g.11100313A>CCA404074938LDLRc.416A>C (p.Gln139Pro)
c.158A>C (p.Gln53Pro)
c.412A>C
n.244A>C
n.308A>C
n.275A>C
19g.11100313A>GCA404074939LDLRc.416A>G (p.Gln139Arg)
c.158A>G (p.Gln53Arg)
c.412A>G
n.244A>G
n.308A>G
n.275A>G
19g.11100313A>TCA404074936LDLRc.416A>T (p.Gln139Leu)
c.158A>T (p.Gln53Leu)
c.412A>T
n.244A>T
n.308A>T
n.275A>T
19g.11100314G>ACA505484553LDLRc.417G>A (p.Gln139=)
c.159G>A (p.Gln53=)
c.413G>A
n.245G>A
n.309G>A
n.276G>A
 dbSNP
19g.11100314G>CCA404074941LDLRc.417G>C (p.Gln139His)
c.159G>C (p.Gln53His)
c.413G>C
n.245G>C
n.309G>C
n.276G>C
19g.11100314G=CA2322764755LDLRc.417G= (p.Gln139=)
c.159G= (p.Gln53=)
c.413G=
n.245G=
n.309G=
n.276G=
19g.11100314G>TCA404074943LDLRc.417G>T (p.Gln139His)
c.159G>T (p.Gln53His)
c.413G>T
n.245G>T
n.309G>T
n.276G>T
19g.11100315G>ACA404074945LDLRc.418G>A (p.Asp140Asn)
c.160G>A (p.Asp54Asn)
c.414G>A
n.246G>A
n.310G>A
n.277G>A
19g.11100315G>CCA404074946LDLRc.418G>C (p.Asp140His)
c.160G>C (p.Asp54His)
c.414G>C
n.246G>C
n.310G>C
n.277G>C
19g.11100315G>TCA404074947LDLRc.418G>T (p.Asp140Tyr)
c.160G>T (p.Asp54Tyr)
c.414G>T
n.246G>T
n.310G>T
n.277G>T
19g.11100316A>CCA404074950LDLRc.419A>C (p.Asp140Ala)
c.161A>C (p.Asp54Ala)
c.415A>C
n.247A>C
n.311A>C
n.278A>C
 ClinVar dbSNP
19g.11100316A>GCA404074951LDLRc.419A>G (p.Asp140Gly)
c.161A>G (p.Asp54Gly)
c.415A>G
n.247A>G
n.311A>G
n.278A>G
19g.11100316A>TCA404074953LDLRc.419A>T (p.Asp140Val)
c.161A>T (p.Asp54Val)
c.415A>T
n.247A>T
n.311A>T
n.278A>T
19g.11100317T>ACA404074956LDLRc.420T>A (p.Asp140Glu)
c.162T>A (p.Asp54Glu)
c.416T>A
n.248T>A
n.312T>A
n.279T>A
19g.11100317T>CCA505484556LDLRc.420T>C (p.Asp140=)
c.162T>C (p.Asp54=)
c.416T>C
n.248T>C
n.312T>C
n.279T>C
 ClinVar
19g.11100317T>GCA404074958LDLRc.420T>G (p.Asp140Glu)
c.162T>G (p.Asp54Glu)
c.416T>G
n.248T>G
n.312T>G
n.279T>G
19g.11100318G>ACA404074960LDLRc.421G>A (p.Gly141Ser)
c.163G>A (p.Gly55Ser)
c.417G>A
n.249G>A
n.313G>A
n.280G>A
 gnomAD v4
19g.11100318G>CCA404074962LDLRc.421G>C (p.Gly141Arg)
c.163G>C (p.Gly55Arg)
c.417G>C
n.249G>C
n.313G>C
n.280G>C
19g.11100318G>TCA404074963LDLRc.421G>T (p.Gly141Cys)
c.163G>T (p.Gly55Cys)
c.417G>T
n.249G>T
n.313G>T
n.280G>T
19g.11100319G>ACA404074966LDLRc.422G>A (p.Gly141Asp)
c.164G>A (p.Gly55Asp)
c.418G>A
n.250G>A
n.314G>A
n.281G>A
19g.11100319G>CCA404074967LDLRc.422G>C (p.Gly141Ala)
c.164G>C (p.Gly55Ala)
c.418G>C
n.250G>C
n.314G>C
n.281G>C
19g.11100319G>TCA404074968LDLRc.422G>T (p.Gly141Val)
c.164G>T (p.Gly55Val)
c.418G>T
n.250G>T
n.314G>T
n.281G>T
19g.11100320C>ACA505484562LDLRc.423C>A (p.Gly141=)
c.165C>A (p.Gly55=)
c.419C>A
n.251C>A
n.315C>A
n.282C>A
19g.11100320C=CA2322764756LDLRc.423C= (p.Gly141=)
c.165C= (p.Gly55=)
c.419C=
n.251C=
n.315C=
n.282C=
19g.11100320C>GCA042034LDLRc.423C>G (p.Gly141=)
c.165C>G (p.Gly55=)
c.419C>G
n.251C>G
n.315C>G
n.282C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11100320C>TCA305295263LDLRc.423C>T (p.Gly141=)
c.165C>T (p.Gly55=)
c.419C>T
n.251C>T
n.315C>T
n.282C>T
 dbSNP gnomAD v2 gnomAD v4
19g.11100321T>ACA404074974LDLRc.424T>A (p.Ser142Thr)
c.166T>A (p.Ser56Thr)
c.420T>A
n.252T>A
n.316T>A
n.283T>A
19g.11100321T>CCA10583772LDLRc.424T>C (p.Ser142Pro)
c.166T>C (p.Ser56Pro)
c.420T>C
n.252T>C
n.316T>C
n.283T>C
 ClinVar dbSNP gnomAD v4
19g.11100321T>GCA404074979LDLRc.424T>G (p.Ser142Ala)
c.166T>G (p.Ser56Ala)
c.420T>G
n.252T>G
n.316T>G
n.283T>G
19g.11100321T=CA2322764757LDLRc.424T= (p.Ser142=)
c.166T= (p.Ser56=)
c.420T=
n.252T=
n.316T=
n.283T=
19g.11100322C>ACA404074983LDLRc.425C>A (p.Ser142Tyr)
c.167C>A (p.Ser56Tyr)
c.421C>A
n.253C>A
n.317C>A
n.284C>A
19g.11100322C=CA2322764759LDLRc.425C= (p.Ser142=)
c.167C= (p.Ser56=)
c.421C=
n.253C=
n.317C=
n.284C=
19g.11100322C>GCA404074986LDLRc.425C>G (p.Ser142Cys)
c.167C>G (p.Ser56Cys)
c.421C>G
n.253C>G
n.317C>G
n.284C>G
19g.11100322C>TCA404074989LDLRc.425C>T (p.Ser142Phe)
c.167C>T (p.Ser56Phe)
c.421C>T
n.253C>T
n.317C>T
n.284C>T
 dbSNP gnomAD v4
19g.11100322_11100325delinsCTGACA2322764758LDLRc.425_428delinsCTGA (p.Ser142=)
c.167_170delinsCTGA (p.Ser56=)
c.421_424delinsCTGA
n.253_256delinsCTGA
n.317_320delinsCTGA
n.284_287delinsCTGA
19g.11100323T>ACA505484567LDLRc.426T>A (p.Ser142=)
c.168T>A (p.Ser56=)
c.422T>A
n.254T>A
n.318T>A
n.285T>A
 gnomAD v4
19g.11100323T>CCA505484570LDLRc.426T>C (p.Ser142=)
c.168T>C (p.Ser56=)
c.422T>C
n.254T>C
n.318T>C
n.285T>C
19g.11100323T>GCA505484571LDLRc.426T>G (p.Ser142=)
c.168T>G (p.Ser56=)
c.422T>G
n.254T>G
n.318T>G
n.285T>G
19g.11100326_11100328delCA10584772LDLRc.429_431del (p.Asp143del)
c.171_173del (p.Asp57del)
c.425_427del
n.257_259del
n.321_323del
n.288_290del
 ClinVar dbSNP
19g.11100324G>ACA10584771LDLRc.427G>A (p.Asp143Asn)
c.169G>A (p.Asp57Asn)
c.423G>A
n.255G>A
n.319G>A
n.286G>A
 ClinVar dbSNP
19g.11100324G>CCA404074999LDLRc.427G>C (p.Asp143His)
c.169G>C (p.Asp57His)
c.423G>C
n.255G>C
n.319G>C
n.286G>C
 ClinVar

Number of alleles fetched