Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.12131884C>ACA383951409BCL2L14,LRP6c.3907G>T (p.Gly1303Cys)
c.712-6952C>A (n.712-6952C>A)
c.3501G>T
n.228G>T
c.3772G>T (p.Gly1258Cys)
c.3454G>T (p.Gly1152Cys)
n.4040G>T
12g.12131884C>GCA383951413BCL2L14,LRP6c.3907G>C (p.Gly1303Arg)
c.712-6952C>G (n.712-6952C>G)
c.3501G>C
n.228G>C
c.3772G>C (p.Gly1258Arg)
c.3454G>C (p.Gly1152Arg)
n.4040G>C
12g.12131884C>TCA383951411BCL2L14,LRP6c.3907G>A (p.Gly1303Ser)
c.712-6952C>T (n.712-6952C>T)
c.3501G>A
n.228G>A
c.3772G>A (p.Gly1258Ser)
c.3454G>A (p.Gly1152Ser)
n.4040G>A
12g.12131885A>CCA383951414BCL2L14,LRP6c.3906T>G (p.Asp1302Glu)
c.712-6951A>C (n.712-6951A>C)
c.3500T>G
n.227T>G
c.3771T>G (p.Asp1257Glu)
c.3453T>G (p.Asp1151Glu)
n.4039T>G
12g.12131885A>GCA478843748BCL2L14,LRP6c.3906T>C (p.Asp1302=)
c.712-6951A>G (n.712-6951A>G)
c.3500T>C
n.227T>C
c.3771T>C (p.Asp1257=)
c.3453T>C (p.Asp1151=)
n.4039T>C
12g.12131885A>TCA383951416BCL2L14,LRP6c.3906T>A (p.Asp1302Glu)
c.712-6951A>T (n.712-6951A>T)
c.3500T>A
n.227T>A
c.3771T>A (p.Asp1257Glu)
c.3453T>A (p.Asp1151Glu)
n.4039T>A
12g.12131886T>ACA383951418BCL2L14,LRP6c.3905A>T (p.Asp1302Val)
c.712-6950T>A (n.712-6950T>A)
c.3499A>T
n.226A>T
c.3770A>T (p.Asp1257Val)
c.3452A>T (p.Asp1151Val)
n.4038A>T
12g.12131886T>CCA383951422BCL2L14,LRP6c.3905A>G (p.Asp1302Gly)
c.712-6950T>C (n.712-6950T>C)
c.3499A>G
n.226A>G
c.3770A>G (p.Asp1257Gly)
c.3452A>G (p.Asp1151Gly)
n.4038A>G
12g.12131886T>GCA383951420BCL2L14,LRP6c.3905A>C (p.Asp1302Ala)
c.712-6950T>G (n.712-6950T>G)
c.3499A>C
n.226A>C
c.3770A>C (p.Asp1257Ala)
c.3452A>C (p.Asp1151Ala)
n.4038A>C
12g.12131887C>ACA383951424BCL2L14,LRP6c.3904G>T (p.Asp1302Tyr)
c.712-6949C>A (n.712-6949C>A)
c.3498G>T
n.225G>T
c.3769G>T (p.Asp1257Tyr)
c.3451G>T (p.Asp1151Tyr)
n.4037G>T
12g.12131887C=CA2016768292BCL2L14,LRP6c.3904G= (p.Asp1302=)
c.712-6949C= (n.712-6949C=)
c.3498G=
n.225G=
c.3769G= (p.Asp1257=)
c.3451G= (p.Asp1151=)
n.4037G=
12g.12131887C>GCA383951427BCL2L14,LRP6c.3904G>C (p.Asp1302His)
c.712-6949C>G (n.712-6949C>G)
c.3498G>C
n.225G>C
c.3769G>C (p.Asp1257His)
c.3451G>C (p.Asp1151His)
n.4037G>C
12g.12131887C>TCA383951425BCL2L14,LRP6c.3904G>A (p.Asp1302Asn)
c.712-6949C>T (n.712-6949C>T)
c.3498G>A
n.225G>A
c.3769G>A (p.Asp1257Asn)
c.3451G>A (p.Asp1151Asn)
n.4037G>A
 dbSNP gnomAD v3 gnomAD v4
12g.12131888A>CCA383951428BCL2L14,LRP6c.3903T>G (p.Ile1301Met)
c.712-6948A>C (n.712-6948A>C)
c.3497T>G
n.224T>G
c.3768T>G (p.Ile1256Met)
c.3450T>G (p.Ile1150Met)
n.4036T>G
12g.12131888A>GCA478843756BCL2L14,LRP6c.3903T>C (p.Ile1301=)
c.712-6948A>G (n.712-6948A>G)
c.3497T>C
n.224T>C
c.3768T>C (p.Ile1256=)
c.3450T>C (p.Ile1150=)
n.4036T>C
12g.12131888A>TCA478843755BCL2L14,LRP6c.3903T>A (p.Ile1301=)
c.712-6948A>T (n.712-6948A>T)
c.3497T>A
n.224T>A
c.3768T>A (p.Ile1256=)
c.3450T>A (p.Ile1150=)
n.4036T>A
12g.12131889A>CCA383951433BCL2L14,LRP6c.3902T>G (p.Ile1301Ser)
c.712-6947A>C (n.712-6947A>C)
c.3496T>G
n.223T>G
c.3767T>G (p.Ile1256Ser)
c.3449T>G (p.Ile1150Ser)
n.4035T>G
12g.12131889A>GCA383951430BCL2L14,LRP6c.3902T>C (p.Ile1301Thr)
c.712-6947A>G (n.712-6947A>G)
c.3496T>C
n.223T>C
c.3767T>C (p.Ile1256Thr)
c.3449T>C (p.Ile1150Thr)
n.4035T>C
 gnomAD v4
12g.12131889A>TCA383951431BCL2L14,LRP6c.3902T>A (p.Ile1301Asn)
c.712-6947A>T (n.712-6947A>T)
c.3496T>A
n.223T>A
c.3767T>A (p.Ile1256Asn)
c.3449T>A (p.Ile1150Asn)
n.4035T>A
12g.12131890T>ACA383951435BCL2L14,LRP6c.3901A>T (p.Ile1301Phe)
c.712-6946T>A (n.712-6946T>A)
c.3495A>T
n.222A>T
c.3766A>T (p.Ile1256Phe)
c.3448A>T (p.Ile1150Phe)
n.4034A>T
12g.12131890T>CCA6455093BCL2L14,LRP6c.3901A>G (p.Ile1301Val)
c.712-6946T>C (n.712-6946T>C)
c.3495A>G
n.222A>G
c.3766A>G (p.Ile1256Val)
c.3448A>G (p.Ile1150Val)
n.4034A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.12131890T>GCA383951438BCL2L14,LRP6c.3901A>C (p.Ile1301Leu)
c.712-6946T>G (n.712-6946T>G)
c.3495A>C
n.222A>C
c.3766A>C (p.Ile1256Leu)
c.3448A>C (p.Ile1150Leu)
n.4034A>C
12g.12131890T=CA2016768293BCL2L14,LRP6c.3901A= (p.Ile1301=)
c.712-6946T= (n.712-6946T=)
c.3495A=
n.222A=
c.3766A= (p.Ile1256=)
c.3448A= (p.Ile1150=)
n.4034A=
12g.12131891A>CCA383951440BCL2L14,LRP6c.3900T>G (p.Cys1300Trp)
c.712-6945A>C (n.712-6945A>C)
c.3494T>G
n.221T>G
c.3765T>G (p.Cys1255Trp)
c.3447T>G (p.Cys1149Trp)
n.4033T>G
12g.12131891A>GCA478843761BCL2L14,LRP6c.3900T>C (p.Cys1300=)
c.712-6945A>G (n.712-6945A>G)
c.3494T>C
n.221T>C
c.3765T>C (p.Cys1255=)
c.3447T>C (p.Cys1149=)
n.4033T>C
12g.12131891A>TCA383951442BCL2L14,LRP6c.3900T>A (p.Cys1300Ter)
c.712-6945A>T (n.712-6945A>T)
c.3494T>A
n.221T>A
c.3765T>A (p.Cys1255Ter)
c.3447T>A (p.Cys1149Ter)
n.4033T>A
12g.12131892C>ACA383951444BCL2L14,LRP6c.3899G>T (p.Cys1300Phe)
c.712-6944C>A (n.712-6944C>A)
c.3493G>T
n.220G>T
c.3764G>T (p.Cys1255Phe)
c.3446G>T (p.Cys1149Phe)
n.4032G>T
12g.12131892C>GCA383951446BCL2L14,LRP6c.3899G>C (p.Cys1300Ser)
c.712-6944C>G (n.712-6944C>G)
c.3493G>C
n.220G>C
c.3764G>C (p.Cys1255Ser)
c.3446G>C (p.Cys1149Ser)
n.4032G>C
12g.12131892C>TCA383951448BCL2L14,LRP6c.3899G>A (p.Cys1300Tyr)
c.712-6944C>T (n.712-6944C>T)
c.3493G>A
n.220G>A
c.3764G>A (p.Cys1255Tyr)
c.3446G>A (p.Cys1149Tyr)
n.4032G>A
12g.12131893delCA2697559107BCL2L14,LRP6c.3898del (p.Cys1300ValfsTer28)
c.712-6943del (n.712-6943del)
c.3492del
n.219del
c.3763del (p.Cys1255ValfsTer28)
c.3445del (p.Cys1149ValfsTer28)
n.4031del
 ClinVar
12g.12131893A>CCA383951451BCL2L14,LRP6c.3898T>G (p.Cys1300Gly)
c.712-6943A>C (n.712-6943A>C)
c.3492T>G
n.219T>G
c.3763T>G (p.Cys1255Gly)
c.3445T>G (p.Cys1149Gly)
n.4031T>G
12g.12131893A>GCA383951453BCL2L14,LRP6c.3898T>C (p.Cys1300Arg)
c.712-6943A>G (n.712-6943A>G)
c.3492T>C
n.219T>C
c.3763T>C (p.Cys1255Arg)
c.3445T>C (p.Cys1149Arg)
n.4031T>C
12g.12131893A>TCA383951455BCL2L14,LRP6c.3898T>A (p.Cys1300Ser)
c.712-6943A>T (n.712-6943A>T)
c.3492T>A
n.219T>A
c.3763T>A (p.Cys1255Ser)
c.3445T>A (p.Cys1149Ser)
n.4031T>A
 gnomAD v4
12g.12131894C>ACA6455094BCL2L14,LRP6c.3897G>T (p.Gln1299His)
c.712-6942C>A (n.712-6942C>A)
c.3491G>T
n.218G>T
c.3762G>T (p.Gln1254His)
c.3444G>T (p.Gln1148His)
n.4030G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.12131894C=CA2016768294BCL2L14,LRP6c.3897G= (p.Gln1299=)
c.712-6942C= (n.712-6942C=)
c.3491G=
n.218G=
c.3762G= (p.Gln1254=)
c.3444G= (p.Gln1148=)
n.4030G=
12g.12131894C>GCA383951457BCL2L14,LRP6c.3897G>C (p.Gln1299His)
c.712-6942C>G (n.712-6942C>G)
c.3491G>C
n.218G>C
c.3762G>C (p.Gln1254His)
c.3444G>C (p.Gln1148His)
n.4030G>C
12g.12131894C>TCA478843765BCL2L14,LRP6c.3897G>A (p.Gln1299=)
c.712-6942C>T (n.712-6942C>T)
c.3491G>A
n.218G>A
c.3762G>A (p.Gln1254=)
c.3444G>A (p.Gln1148=)
n.4030G>A
12g.12131895T>ACA383951459BCL2L14,LRP6c.3896A>T (p.Gln1299Leu)
c.712-6941T>A (n.712-6941T>A)
c.3490A>T
n.217A>T
c.3761A>T (p.Gln1254Leu)
c.3443A>T (p.Gln1148Leu)
n.4029A>T
12g.12131895T>CCA383951460BCL2L14,LRP6c.3896A>G (p.Gln1299Arg)
c.712-6941T>C (n.712-6941T>C)
c.3490A>G
n.217A>G
c.3761A>G (p.Gln1254Arg)
c.3443A>G (p.Gln1148Arg)
n.4029A>G
 gnomAD v4
12g.12131895T>GCA6455095BCL2L14,LRP6c.3896A>C (p.Gln1299Pro)
c.712-6941T>G (n.712-6941T>G)
c.3490A>C
n.217A>C
c.3761A>C (p.Gln1254Pro)
c.3443A>C (p.Gln1148Pro)
n.4029A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.12131895T=CA2016768295BCL2L14,LRP6c.3896A= (p.Gln1299=)
c.712-6941T= (n.712-6941T=)
c.3490A=
n.217A=
c.3761A= (p.Gln1254=)
c.3443A= (p.Gln1148=)
n.4029A=
12g.12131896G>ACA383951463BCL2L14,LRP6c.3895C>T (p.Gln1299Ter)
c.712-6940G>A (n.712-6940G>A)
c.3489C>T
n.216C>T
c.3760C>T (p.Gln1254Ter)
c.3442C>T (p.Gln1148Ter)
n.4028C>T
12g.12131896G>CCA383951465BCL2L14,LRP6c.3895C>G (p.Gln1299Glu)
c.712-6940G>C (n.712-6940G>C)
c.3489C>G
n.216C>G
c.3760C>G (p.Gln1254Glu)
c.3442C>G (p.Gln1148Glu)
n.4028C>G
12g.12131896G>TCA383951467BCL2L14,LRP6c.3895C>A (p.Gln1299Lys)
c.712-6940G>T (n.712-6940G>T)
c.3489C>A
n.216C>A
c.3760C>A (p.Gln1254Lys)
c.3442C>A (p.Gln1148Lys)
n.4028C>A
12g.12131897C>ACA6455096BCL2L14,LRP6c.3894G>T (p.Gly1298=)
c.712-6939C>A (n.712-6939C>A)
c.3488G>T
n.215G>T
c.3759G>T (p.Gly1253=)
c.3441G>T (p.Gly1147=)
n.4027G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.12131897C=CA2016768296BCL2L14,LRP6c.3894G= (p.Gly1298=)
c.712-6939C= (n.712-6939C=)
c.3488G=
n.215G=
c.3759G= (p.Gly1253=)
c.3441G= (p.Gly1147=)
n.4027G=
12g.12131897C>GCA478843768BCL2L14,LRP6c.3894G>C (p.Gly1298=)
c.712-6939C>G (n.712-6939C>G)
c.3488G>C
n.215G>C
c.3759G>C (p.Gly1253=)
c.3441G>C (p.Gly1147=)
n.4027G>C
12g.12131897C>TCA478843770BCL2L14,LRP6c.3894G>A (p.Gly1298=)
c.712-6939C>T (n.712-6939C>T)
c.3488G>A
n.215G>A
c.3759G>A (p.Gly1253=)
c.3441G>A (p.Gly1147=)
n.4027G>A
 dbSNP gnomAD v3 gnomAD v4
12g.12131898C>ACA383951470BCL2L14,LRP6c.3893G>T (p.Gly1298Val)
c.712-6938C>A (n.712-6938C>A)
c.3487G>T
n.214G>T
c.3758G>T (p.Gly1253Val)
c.3440G>T (p.Gly1147Val)
n.4026G>T
12g.12131898C>GCA383951472BCL2L14,LRP6c.3893G>C (p.Gly1298Ala)
c.712-6938C>G (n.712-6938C>G)
c.3487G>C
n.214G>C
c.3758G>C (p.Gly1253Ala)
c.3440G>C (p.Gly1147Ala)
n.4026G>C

Number of alleles fetched