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.11100287_11100288dupCA10584763LDLRc.390_391dup (p.Val131GlyfsTer?)
c.132_133dup (p.Val45GlyfsTer?)
c.386_387dup
n.218_219dup
n.282_283dup
n.249_250dup
 ClinVar dbSNP
19g.11100288delCA2497030062LDLRc.391del (p.Val131SerfsTer?)
c.133del (p.Val45SerfsTer?)
c.387del
n.219del
n.283del
n.250del
19g.11100287G>ACA404074816LDLRc.390G>A (p.Trp130Ter)
c.132G>A (p.Trp44Ter)
c.386G>A
n.218G>A
n.282G>A
n.249G>A
 ClinVar dbSNP
19g.11100287G>CCA404074818LDLRc.390G>C (p.Trp130Cys)
c.132G>C (p.Trp44Cys)
c.386G>C
n.218G>C
n.282G>C
n.249G>C
 ClinVar dbSNP
19g.11100287G=CA2322764734LDLRc.390G= (p.Trp130=)
c.132G= (p.Trp44=)
c.386G=
n.218G=
n.282G=
n.249G=
19g.11100287G>TCA404074819LDLRc.390G>T (p.Trp130Cys)
c.132G>T (p.Trp44Cys)
c.386G>T
n.218G>T
n.282G>T
n.249G>T
19g.11100288G>ACA404074822LDLRc.391G>A (p.Val131Ile)
c.133G>A (p.Val45Ile)
c.387G>A
n.219G>A
n.283G>A
n.250G>A
 ClinVar
19g.11100288G>CCA404074824LDLRc.391G>C (p.Val131Leu)
c.133G>C (p.Val45Leu)
c.387G>C
n.219G>C
n.283G>C
n.250G>C
19g.11100288G>TCA404074825LDLRc.391G>T (p.Val131Phe)
c.133G>T (p.Val45Phe)
c.387G>T
n.219G>T
n.283G>T
n.250G>T
19g.11100289T>ACA404074832LDLRc.392T>A (p.Val131Asp)
c.134T>A (p.Val45Asp)
c.388T>A
n.220T>A
n.284T>A
n.251T>A
19g.11100289T>CCA404074829LDLRc.392T>C (p.Val131Ala)
c.134T>C (p.Val45Ala)
c.388T>C
n.220T>C
n.284T>C
n.251T>C
19g.11100289T>GCA404074828LDLRc.392T>G (p.Val131Gly)
c.134T>G (p.Val45Gly)
c.388T>G
n.220T>G
n.284T>G
n.251T>G
 ClinVar dbSNP
19g.11100289T=CA2322764735LDLRc.392T= (p.Val131=)
c.134T= (p.Val45=)
c.388T=
n.220T=
n.284T=
n.251T=
19g.11100290C>ACA505484517LDLRc.393C>A (p.Val131=)
c.135C>A (p.Val45=)
c.389C>A
n.221C>A
n.285C>A
n.252C>A
19g.11100290C>GCA505484519LDLRc.393C>G (p.Val131=)
c.135C>G (p.Val45=)
c.389C>G
n.221C>G
n.285C>G
n.252C>G
19g.11100290C>TCA505484520LDLRc.393C>T (p.Val131=)
c.135C>T (p.Val45=)
c.389C>T
n.221C>T
n.285C>T
n.252C>T
19g.11100291T>ACA404074834LDLRc.394T>A (p.Cys132Ser)
c.136T>A (p.Cys46Ser)
c.390T>A
n.222T>A
n.286T>A
n.253T>A
19g.11100291T>CCA404074837LDLRc.394T>C (p.Cys132Arg)
c.136T>C (p.Cys46Arg)
c.390T>C
n.222T>C
n.286T>C
n.253T>C
19g.11100291T>GCA10584764LDLRc.394T>G (p.Cys132Gly)
c.136T>G (p.Cys46Gly)
c.390T>G
n.222T>G
n.286T>G
n.253T>G
 ClinVar dbSNP gnomAD v4
19g.11100291T=CA2322764737LDLRc.394T= (p.Cys132=)
c.136T= (p.Cys46=)
c.390T=
n.222T=
n.286T=
n.253T=
19g.11100291_11100297delCA2580096304LDLRc.394_400del (p.Cys132AlafsTer?)
c.136_142del (p.Cys46AlafsTer?)
c.390_396del
n.222_228del
n.286_292del
n.253_259del
 ClinVar
19g.11100291_11100297delinsTGCGATGCA2322764736LDLRc.394_400delinsTGCGATG (p.Cys132=)
c.136_142delinsTGCGATG (p.Cys46=)
c.390_396delinsTGCGATG
n.222_228delinsTGCGATG
n.286_292delinsTGCGATG
n.253_259delinsTGCGATG
19g.11100292G>ACA10584765LDLRc.395G>A (p.Cys132Tyr)
c.137G>A (p.Cys46Tyr)
c.391G>A
n.223G>A
n.287G>A
n.254G>A
 ClinVar dbSNP
19g.11100292G>CCA023468LDLRc.395G>C (p.Cys132Ser)
c.137G>C (p.Cys46Ser)
c.391G>C
n.223G>C
n.287G>C
n.254G>C
 ClinVar dbSNP
19g.11100292G=CA2322764738LDLRc.395G= (p.Cys132=)
c.137G= (p.Cys46=)
c.391G=
n.223G=
n.287G=
n.254G=
19g.11100292G>TCA404074841LDLRc.395G>T (p.Cys132Phe)
c.137G>T (p.Cys46Phe)
c.391G>T
n.223G>T
n.287G>T
n.254G>T
19g.11100294_11100299delCA023466LDLRc.397_402del (p.Asp133_Gly134del)
c.139_144del (p.Asp47_Gly48del)
c.393_398del
n.225_230del
n.289_294del
n.256_261del
 ClinVar dbSNP gnomAD v4
19g.11100293C>ACA10584766LDLRc.396C>A (p.Cys132Ter)
c.138C>A (p.Cys46Ter)
c.392C>A
n.224C>A
n.288C>A
n.255C>A
 ClinVar dbSNP
19g.11100293C=CA2322764740LDLRc.396C= (p.Cys132=)
c.138C= (p.Cys46=)
c.392C=
n.224C=
n.288C=
n.255C=
19g.11100293C>GCA404074847LDLRc.396C>G (p.Cys132Trp)
c.138C>G (p.Cys46Trp)
c.392C>G
n.224C>G
n.288C>G
n.255C>G
 ClinVar
19g.11100293C>TCA041898LDLRc.396C>T (p.Cys132=)
c.138C>T (p.Cys46=)
c.392C>T
n.224C>T
n.288C>T
n.255C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11100293_11100307delinsCGATGGCAGCGCTGACA2322764739LDLRc.396_410delinsCGATGGCAGCGCTGA (p.Cys132=)
c.138_152delinsCGATGGCAGCGCTGA (p.Cys46=)
c.392_406delinsCGATGGCAGCGCTGA
n.224_238delinsCGATGGCAGCGCTGA
n.288_302delinsCGATGGCAGCGCTGA
n.255_269delinsCGATGGCAGCGCTGA
19g.11100294G>ACA041918LDLRc.397G>A (p.Asp133Asn)
c.139G>A (p.Asp47Asn)
c.393G>A
n.225G>A
n.289G>A
n.256G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.11100294G>CCA404074850LDLRc.397G>C (p.Asp133His)
c.139G>C (p.Asp47His)
c.393G>C
n.225G>C
n.289G>C
n.256G>C
 ClinVar dbSNP
19g.11100294G=CA2322764741LDLRc.397G= (p.Asp133=)
c.139G= (p.Asp47=)
c.393G=
n.225G=
n.289G=
n.256G=
19g.11100294G>TCA404074852LDLRc.397G>T (p.Asp133Tyr)
c.139G>T (p.Asp47Tyr)
c.393G>T
n.225G>T
n.289G>T
n.256G>T
 ClinVar dbSNP
19g.11100295_11100308delCA658653854LDLRc.398_411del (p.Asp133ValfsTer6)
c.140_153del (p.Asp47ValfsTer6)
c.394_407del
n.226_239del
n.290_303del
n.257_270del
 ClinVar dbSNP
19g.11100295A>CCA404074858LDLRc.398A>C (p.Asp133Ala)
c.140A>C (p.Asp47Ala)
c.394A>C
n.226A>C
n.290A>C
n.257A>C
19g.11100295A>GCA404074854LDLRc.398A>G (p.Asp133Gly)
c.140A>G (p.Asp47Gly)
c.394A>G
n.226A>G
n.290A>G
n.257A>G
19g.11100295A>TCA404074856LDLRc.398A>T (p.Asp133Val)
c.140A>T (p.Asp47Val)
c.394A>T
n.226A>T
n.290A>T
n.257A>T
19g.11100296T>ACA404074860LDLRc.399T>A (p.Asp133Glu)
c.141T>A (p.Asp47Glu)
c.395T>A
n.227T>A
n.291T>A
n.258T>A
19g.11100296T>CCA505484524LDLRc.399T>C (p.Asp133=)
c.141T>C (p.Asp47=)
c.395T>C
n.227T>C
n.291T>C
n.258T>C
 dbSNP gnomAD v2 gnomAD v4
19g.11100296T>GCA404074862LDLRc.399T>G (p.Asp133Glu)
c.141T>G (p.Asp47Glu)
c.395T>G
n.227T>G
n.291T>G
n.258T>G
19g.11100296T=CA2322764742LDLRc.399T= (p.Asp133=)
c.141T= (p.Asp47=)
c.395T=
n.227T=
n.291T=
n.258T=
19g.11100297G>ACA404074863LDLRc.400G>A (p.Gly134Ser)
c.142G>A (p.Gly48Ser)
c.396G>A
n.228G>A
n.292G>A
n.259G>A
 dbSNP gnomAD v4

Number of alleles fetched