Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
12g.12131898C>TCA383951473BCL2L14,LRP6c.3893G>A (p.Gly1298Glu)
c.712-6938C>T (n.712-6938C>T)
c.3487G>A
n.214G>A
c.3758G>A (p.Gly1253Glu)
c.3440G>A (p.Gly1147Glu)
n.4026G>A
12g.12131899C>ACA383951479BCL2L14,LRP6c.3892G>T (p.Gly1298Trp)
c.712-6937C>A (n.712-6937C>A)
c.3486G>T
n.213G>T
c.3757G>T (p.Gly1253Trp)
c.3439G>T (p.Gly1147Trp)
n.4025G>T
12g.12131899C=CA2016768297BCL2L14,LRP6c.3892G= (p.Gly1298=)
c.712-6937C= (n.712-6937C=)
c.3486G=
n.213G=
c.3757G= (p.Gly1253=)
c.3439G= (p.Gly1147=)
n.4025G=
12g.12131899C>GCA383951478BCL2L14,LRP6c.3892G>C (p.Gly1298Arg)
c.712-6937C>G (n.712-6937C>G)
c.3486G>C
n.213G>C
c.3757G>C (p.Gly1253Arg)
c.3439G>C (p.Gly1147Arg)
n.4025G>C
12g.12131899C>TCA383951476BCL2L14,LRP6c.3892G>A (p.Gly1298Arg)
c.712-6937C>T (n.712-6937C>T)
c.3486G>A
n.213G>A
c.3757G>A (p.Gly1253Arg)
c.3439G>A (p.Gly1147Arg)
n.4025G>A
 dbSNP
12g.12131900A>CCA383951481BCL2L14,LRP6c.3891T>G (p.Ser1297Arg)
c.712-6936A>C (n.712-6936A>C)
c.3485T>G
n.212T>G
c.3756T>G (p.Ser1252Arg)
c.3438T>G (p.Ser1146Arg)
n.4024T>G
 gnomAD v4
12g.12131900A>GCA478843771BCL2L14,LRP6c.3891T>C (p.Ser1297=)
c.712-6936A>G (n.712-6936A>G)
c.3485T>C
n.212T>C
c.3756T>C (p.Ser1252=)
c.3438T>C (p.Ser1146=)
n.4024T>C
 COSMIC
12g.12131900A>TCA383951483BCL2L14,LRP6c.3891T>A (p.Ser1297Arg)
c.712-6936A>T (n.712-6936A>T)
c.3485T>A
n.212T>A
c.3756T>A (p.Ser1252Arg)
c.3438T>A (p.Ser1146Arg)
n.4024T>A
12g.12131901C>ACA383951485BCL2L14,LRP6c.3890G>T (p.Ser1297Ile)
c.712-6935C>A (n.712-6935C>A)
c.3484G>T
n.211G>T
c.3755G>T (p.Ser1252Ile)
c.3437G>T (p.Ser1146Ile)
n.4023G>T
12g.12131901C>GCA383951488BCL2L14,LRP6c.3890G>C (p.Ser1297Thr)
c.712-6935C>G (n.712-6935C>G)
c.3484G>C
n.211G>C
c.3755G>C (p.Ser1252Thr)
c.3437G>C (p.Ser1146Thr)
n.4023G>C
12g.12131901C>TCA383951489BCL2L14,LRP6c.3890G>A (p.Ser1297Asn)
c.712-6935C>T (n.712-6935C>T)
c.3484G>A
n.211G>A
c.3755G>A (p.Ser1252Asn)
c.3437G>A (p.Ser1146Asn)
n.4023G>A
12g.12131902T>ACA383951492BCL2L14,LRP6c.3889A>T (p.Ser1297Cys)
c.712-6934T>A (n.712-6934T>A)
c.3483A>T
n.210A>T
c.3754A>T (p.Ser1252Cys)
c.3436A>T (p.Ser1146Cys)
n.4022A>T
 gnomAD v4
12g.12131902T>CCA383951494BCL2L14,LRP6c.3889A>G (p.Ser1297Gly)
c.712-6934T>C (n.712-6934T>C)
c.3483A>G
n.210A>G
c.3754A>G (p.Ser1252Gly)
c.3436A>G (p.Ser1146Gly)
n.4022A>G
 gnomAD v4
12g.12131902T>GCA383951496BCL2L14,LRP6c.3889A>C (p.Ser1297Arg)
c.712-6934T>G (n.712-6934T>G)
c.3483A>C
n.210A>C
c.3754A>C (p.Ser1252Arg)
c.3436A>C (p.Ser1146Arg)
n.4022A>C
12g.12131903G>ACA478843775BCL2L14,LRP6c.3888C>T (p.Ala1296=)
c.712-6933G>A (n.712-6933G>A)
c.3482C>T
n.209C>T
c.3753C>T (p.Ala1251=)
c.3435C>T (p.Ala1145=)
n.4021C>T
12g.12131903G>CCA478843776BCL2L14,LRP6c.3888C>G (p.Ala1296=)
c.712-6933G>C (n.712-6933G>C)
c.3482C>G
n.209C>G
c.3753C>G (p.Ala1251=)
c.3435C>G (p.Ala1145=)
n.4021C>G
12g.12131903G>TCA478843777BCL2L14,LRP6c.3888C>A (p.Ala1296=)
c.712-6933G>T (n.712-6933G>T)
c.3482C>A
n.209C>A
c.3753C>A (p.Ala1251=)
c.3435C>A (p.Ala1145=)
n.4021C>A
12g.12131904dupCA2580085164BCL2L14,LRP6c.3888dup (p.Ser1297GlnfsTer6)
c.712-6932dup (n.712-6932dup)
c.3482dup
n.209dup
c.3753dup (p.Ser1252GlnfsTer6)
c.3435dup (p.Ser1146GlnfsTer6)
n.4021dup
 ClinVar
12g.12131908_12131909insGTGGGCACACA2617687028BCL2L14,LRP6c.3888_3889insCACTGTGCC (p.Ala1296_Ser1297insHisCysAla)
c.712-6928_712-6927insGTGGGCACA (n.712-6928_712-6927insGTGGGCACA)
c.3482_3483insCACTGTGCC
n.209_210insCACTGTGCC
c.3753_3754insCACTGTGCC (p.Ala1251_Ser1252insHisCysAla)
c.3435_3436insCACTGTGCC (p.Ala1145_Ser1146insHisCysAla)
n.4021_4022insCACTGTGCC
 gnomAD v4
12g.12131904G>ACA383951497BCL2L14,LRP6c.3887C>T (p.Ala1296Val)
c.712-6932G>A (n.712-6932G>A)
c.3481C>T
n.208C>T
c.3752C>T (p.Ala1251Val)
c.3434C>T (p.Ala1145Val)
n.4020C>T
12g.12131904G>CCA383951500BCL2L14,LRP6c.3887C>G (p.Ala1296Gly)
c.712-6932G>C (n.712-6932G>C)
c.3481C>G
n.208C>G
c.3752C>G (p.Ala1251Gly)
c.3434C>G (p.Ala1145Gly)
n.4020C>G
12g.12131904G>TCA383951501BCL2L14,LRP6c.3887C>A (p.Ala1296Asp)
c.712-6932G>T (n.712-6932G>T)
c.3481C>A
n.208C>A
c.3752C>A (p.Ala1251Asp)
c.3434C>A (p.Ala1145Asp)
n.4020C>A
12g.12131905C>ACA383951507BCL2L14,LRP6c.3886G>T (p.Ala1296Ser)
c.712-6931C>A (n.712-6931C>A)
c.3480G>T
n.207G>T
c.3751G>T (p.Ala1251Ser)
c.3433G>T (p.Ala1145Ser)
n.4019G>T
 dbSNP gnomAD v2 gnomAD v4
12g.12131905C=CA2016768298BCL2L14,LRP6c.3886G= (p.Ala1296=)
c.712-6931C= (n.712-6931C=)
c.3480G=
n.207G=
c.3751G= (p.Ala1251=)
c.3433G= (p.Ala1145=)
n.4019G=
12g.12131905C>GCA383951506BCL2L14,LRP6c.3886G>C (p.Ala1296Pro)
c.712-6931C>G (n.712-6931C>G)
c.3480G>C
n.207G>C
c.3751G>C (p.Ala1251Pro)
c.3433G>C (p.Ala1145Pro)
n.4019G>C
12g.12131905C>TCA383951504BCL2L14,LRP6c.3886G>A (p.Ala1296Thr)
c.712-6931C>T (n.712-6931C>T)
c.3480G>A
n.207G>A
c.3751G>A (p.Ala1251Thr)
c.3433G>A (p.Ala1145Thr)
n.4019G>A

Number of alleles fetched