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.11100252_11100270delCA2573155693LDLRc.355_373del (p.Gln119AlafsTer?)
c.97_115del (p.Gln33AlafsTer?)
c.351_369del
n.183_201del
n.247_265del
n.214_232del
 ClinVar dbSNP
19g.11100257_11100280delinsCCAAGACGGGAAATGCATCTCCTACA2322764710LDLRc.360_383delinsCCAAGACGGGAAATGCATCTCCTA (p.Cys120=)
c.102_125delinsCCAAGACGGGAAATGCATCTCCTA (p.Cys34=)
c.356_379delinsCCAAGACGGGAAATGCATCTCCTA
n.188_211delinsCCAAGACGGGAAATGCATCTCCTA
n.252_275delinsCCAAGACGGGAAATGCATCTCCTA
n.219_242delinsCCAAGACGGGAAATGCATCTCCTA
19g.11100262_11100284delCA9204945LDLRc.365_387del (p.Asp122ValfsTer8)
c.107_129del (p.Asp36ValfsTer8)
c.361_383del
n.193_215del
n.257_279del
n.224_246del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.11100270T>ACA404074736LDLRc.373T>A (p.Cys125Ser)
c.115T>A (p.Cys39Ser)
c.369T>A
n.201T>A
n.265T>A
n.232T>A
19g.11100270T>CCA404074738LDLRc.373T>C (p.Cys125Arg)
c.115T>C (p.Cys39Arg)
c.369T>C
n.201T>C
n.265T>C
n.232T>C
 ClinVar dbSNP gnomAD v4
19g.11100270T>GCA404074739LDLRc.373T>G (p.Cys125Gly)
c.115T>G (p.Cys39Gly)
c.369T>G
n.201T>G
n.265T>G
n.232T>G
19g.11100270T=CA2322764719LDLRc.373T= (p.Cys125=)
c.115T= (p.Cys39=)
c.369T=
n.201T=
n.265T=
n.232T=
19g.11100271G>ACA404074741LDLRc.374G>A (p.Cys125Tyr)
c.116G>A (p.Cys39Tyr)
c.370G>A
n.202G>A
n.266G>A
n.233G>A
19g.11100271G>CCA404074743LDLRc.374G>C (p.Cys125Ser)
c.116G>C (p.Cys39Ser)
c.370G>C
n.202G>C
n.266G>C
n.233G>C
19g.11100271G=CA2322764720LDLRc.374G= (p.Cys125=)
c.116G= (p.Cys39=)
c.370G=
n.202G=
n.266G=
n.233G=
19g.11100271G>TCA404074745LDLRc.374G>T (p.Cys125Phe)
c.116G>T (p.Cys39Phe)
c.370G>T
n.202G>T
n.266G>T
n.233G>T
 ClinVar dbSNP
19g.11100271dupCA2573155696LDLRc.374dup (p.Cys125TrpfsTer13)
c.116dup (p.Cys39TrpfsTer13)
c.370dup
n.202dup
n.266dup
n.233dup
 ClinVar dbSNP
19g.11100271_11100272delinsAACA10584759LDLRc.374_375delinsAA (p.Cys125Ter)
c.116_117delinsAA (p.Cys39Ter)
c.370_371delinsAA
n.202_203delinsAA
n.266_267delinsAA
n.233_234delinsAA
 ClinVar dbSNP
19g.11100271_11100272delinsGCCA2322764721LDLRc.374_375delinsGC (p.Cys125=)
c.116_117delinsGC (p.Cys39=)
c.370_371delinsGC
n.202_203delinsGC
n.266_267delinsGC
n.233_234delinsGC
19g.11100272delCA10584760LDLRc.375del (p.Cys125Ter)
c.117del (p.Cys39Ter)
c.371del
n.203del
n.267del
n.234del
 ClinVar dbSNP
19g.11100272C>ACA404074750LDLRc.375C>A (p.Cys125Ter)
c.117C>A (p.Cys39Ter)
c.371C>A
n.203C>A
n.267C>A
n.234C>A
 ClinVar
19g.11100272C=CA2322764723LDLRc.375C= (p.Cys125=)
c.117C= (p.Cys39=)
c.371C=
n.203C=
n.267C=
n.234C=
19g.11100272C>GCA404074749LDLRc.375C>G (p.Cys125Trp)
c.117C>G (p.Cys39Trp)
c.371C>G
n.203C>G
n.267C>G
n.234C>G
19g.11100272C>TCA505484508LDLRc.375C>T (p.Cys125=)
c.117C>T (p.Cys39=)
c.371C>T
n.203C>T
n.267C>T
n.234C>T
 ClinVar dbSNP
19g.11100272_11100273delinsCACA2322764722LDLRc.375_376delinsCA (p.Cys125=)
c.117_118delinsCA (p.Cys39=)
c.371_372delinsCA
n.203_204delinsCA
n.267_268delinsCA
n.234_235delinsCA
19g.11100273delCA10584761LDLRc.376del (p.Ile126SerfsTer?)
c.118del (p.Ile40SerfsTer?)
c.372del
n.204del
n.268del
n.235del
 ClinVar dbSNP gnomAD v4
19g.11100273A=CA2322764724LDLRc.376A= (p.Ile126=)
c.118A= (p.Ile40=)
c.372A=
n.204A=
n.268A=
n.235A=
19g.11100273A>CCA404074753LDLRc.376A>C (p.Ile126Leu)
c.118A>C (p.Ile40Leu)
c.372A>C
n.204A>C
n.268A>C
n.235A>C
19g.11100273A>GCA041837LDLRc.376A>G (p.Ile126Val)
c.118A>G (p.Ile40Val)
c.372A>G
n.204A>G
n.268A>G
n.235A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.11100273A>TCA404074754LDLRc.376A>T (p.Ile126Phe)
c.118A>T (p.Ile40Phe)
c.372A>T
n.204A>T
n.268A>T
n.235A>T
 ClinVar
19g.11100274delCA2695223177LDLRc.377del (p.Ile126ThrfsTer?)
c.119del (p.Ile40ThrfsTer?)
c.373del
n.205del
n.269del
n.236del
19g.11100274T>ACA404074756LDLRc.377T>A (p.Ile126Asn)
c.119T>A (p.Ile40Asn)
c.373T>A
n.205T>A
n.269T>A
n.236T>A
19g.11100274T>CCA404074758LDLRc.377T>C (p.Ile126Thr)
c.119T>C (p.Ile40Thr)
c.373T>C
n.205T>C
n.269T>C
n.236T>C
19g.11100274T>GCA404074760LDLRc.377T>G (p.Ile126Ser)
c.119T>G (p.Ile40Ser)
c.373T>G
n.205T>G
n.269T>G
n.236T>G
19g.11100274dupCA2739291175LDLRc.377dup (p.Ser127LeufsTer11)
c.119dup (p.Ser41LeufsTer11)
c.373dup
n.205dup
n.269dup
n.236dup
19g.11100275C>ACA505484509LDLRc.378C>A (p.Ile126=)
c.120C>A (p.Ile40=)
c.374C>A
n.206C>A
n.270C>A
n.237C>A
19g.11100275C>GCA404074762LDLRc.378C>G (p.Ile126Met)
c.120C>G (p.Ile40Met)
c.374C>G
n.206C>G
n.270C>G
n.237C>G
19g.11100275C>TCA505484510LDLRc.378C>T (p.Ile126=)
c.120C>T (p.Ile40=)
c.374C>T
n.206C>T
n.270C>T
n.237C>T
 dbSNP
19g.11100276T>ACA404074765LDLRc.379T>A (p.Ser127Thr)
c.121T>A (p.Ser41Thr)
c.375T>A
n.207T>A
n.271T>A
n.238T>A
 ClinVar dbSNP gnomAD v4
19g.11100276T>CCA404074766LDLRc.379T>C (p.Ser127Pro)
c.121T>C (p.Ser41Pro)
c.375T>C
n.207T>C
n.271T>C
n.238T>C
 gnomAD v4
19g.11100276T>GCA404074768LDLRc.379T>G (p.Ser127Ala)
c.121T>G (p.Ser41Ala)
c.375T>G
n.207T>G
n.271T>G
n.238T>G
19g.11100276T=CA2322764725LDLRc.379T= (p.Ser127=)
c.121T= (p.Ser41=)
c.375T=
n.207T=
n.271T=
n.238T=
19g.11100277C>ACA404074773LDLRc.380C>A (p.Ser127Tyr)
c.122C>A (p.Ser41Tyr)
c.376C>A
n.208C>A
n.272C>A
n.239C>A
19g.11100277C=CA2322764726LDLRc.380C= (p.Ser127=)
c.122C= (p.Ser41=)
c.376C=
n.208C=
n.272C=
n.239C=
19g.11100277C>GCA404074771LDLRc.380C>G (p.Ser127Cys)
c.122C>G (p.Ser41Cys)
c.376C>G
n.208C>G
n.272C>G
n.239C>G
19g.11100277C>TCA305295229LDLRc.380C>T (p.Ser127Phe)
c.122C>T (p.Ser41Phe)
c.376C>T
n.208C>T
n.272C>T
n.239C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.11100278C>ACA505484511LDLRc.381C>A (p.Ser127=)
c.123C>A (p.Ser41=)
c.377C>A
n.209C>A
n.273C>A
n.240C>A
19g.11100278C=CA2322764727LDLRc.381C= (p.Ser127=)
c.123C= (p.Ser41=)
c.377C=
n.209C=
n.273C=
n.240C=
19g.11100278C>GCA505484512LDLRc.381C>G (p.Ser127=)
c.123C>G (p.Ser41=)
c.377C>G
n.209C>G
n.273C>G
n.240C>G
19g.11100278C>TCA505484513LDLRc.381C>T (p.Ser127=)
c.123C>T (p.Ser41=)
c.377C>T
n.209C>T
n.273C>T
n.240C>T
 ClinVar dbSNP gnomAD v4

Number of alleles fetched