Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.12131785G>CCA684482517BCL2L14,LRP6c.3970+36C>G (n.3970+36C>G)
c.712-7051G>C (n.712-7051G>C)
c.3564+36C>G
n.291+36C>G
c.10+36C>G (n.10+36C>G)
c.3835+36C>G (n.3835+36C>G)
c.3517+36C>G (n.3517+36C>G)
n.4103+36C>G
 dbSNP
12g.12131785G=CA2016768255BCL2L14,LRP6c.3970+36C= (n.3970+36C=)
c.712-7051G= (n.712-7051G=)
c.3564+36C=
n.291+36C=
c.10+36C= (n.10+36C=)
c.3835+36C= (n.3835+36C=)
c.3517+36C= (n.3517+36C=)
n.4103+36C=
12g.12131786G>TCA2617687016BCL2L14,LRP6c.3970+35C>A (n.3970+35C>A)
c.712-7050G>T (n.712-7050G>T)
c.3564+35C>A
n.291+35C>A
c.10+35C>A (n.10+35C>A)
c.3835+35C>A (n.3835+35C>A)
c.3517+35C>A (n.3517+35C>A)
n.4103+35C>A
 gnomAD v4
12g.12131788T>CCA944804122BCL2L14,LRP6c.3970+33A>G (n.3970+33A>G)
c.712-7048T>C (n.712-7048T>C)
c.3564+33A>G
n.291+33A>G
c.10+33A>G (n.10+33A>G)
c.3835+33A>G (n.3835+33A>G)
c.3517+33A>G (n.3517+33A>G)
n.4103+33A>G
 dbSNP gnomAD v3 gnomAD v4
12g.12131788T=CA2016768256BCL2L14,LRP6c.3970+33A= (n.3970+33A=)
c.712-7048T= (n.712-7048T=)
c.3564+33A=
n.291+33A=
c.10+33A= (n.10+33A=)
c.3835+33A= (n.3835+33A=)
c.3517+33A= (n.3517+33A=)
n.4103+33A=
12g.12131789T>CCA2794575994BCL2L14,LRP6c.3970+32A>G (n.3970+32A>G)
c.712-7047T>C (n.712-7047T>C)
c.3564+32A>G
n.291+32A>G
c.10+32A>G (n.10+32A>G)
c.3835+32A>G (n.3835+32A>G)
c.3517+32A>G (n.3517+32A>G)
n.4103+32A>G
12g.12131789T>GCA6455082BCL2L14,LRP6c.3970+32A>C (n.3970+32A>C)
c.712-7047T>G (n.712-7047T>G)
c.3564+32A>C
n.291+32A>C
c.10+32A>C (n.10+32A>C)
c.3835+32A>C (n.3835+32A>C)
c.3517+32A>C (n.3517+32A>C)
n.4103+32A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.12131789T=CA2016768257BCL2L14,LRP6c.3970+32A= (n.3970+32A=)
c.712-7047T= (n.712-7047T=)
c.3564+32A=
n.291+32A=
c.10+32A= (n.10+32A=)
c.3835+32A= (n.3835+32A=)
c.3517+32A= (n.3517+32A=)
n.4103+32A=
12g.12131791C>TCA2794575995BCL2L14,LRP6c.3970+30G>A (n.3970+30G>A)
c.712-7045C>T (n.712-7045C>T)
c.3564+30G>A
n.291+30G>A
c.10+30G>A (n.10+30G>A)
c.3835+30G>A (n.3835+30G>A)
c.3517+30G>A (n.3517+30G>A)
n.4103+30G>A
12g.12131792A>GCA2617687017BCL2L14,LRP6c.3970+29T>C (n.3970+29T>C)
c.712-7044A>G (n.712-7044A>G)
c.3564+29T>C
n.291+29T>C
c.10+29T>C (n.10+29T>C)
c.3835+29T>C (n.3835+29T>C)
c.3517+29T>C (n.3517+29T>C)
n.4103+29T>C
 gnomAD v4
12g.12131793T>ACA6455083BCL2L14,LRP6c.3970+28A>T (n.3970+28A>T)
c.712-7043T>A (n.712-7043T>A)
c.3564+28A>T
n.291+28A>T
c.10+28A>T (n.10+28A>T)
c.3835+28A>T (n.3835+28A>T)
c.3517+28A>T (n.3517+28A>T)
n.4103+28A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.12131793T>GCA603494163BCL2L14,LRP6c.3970+28A>C (n.3970+28A>C)
c.712-7043T>G (n.712-7043T>G)
c.3564+28A>C
n.291+28A>C
c.10+28A>C (n.10+28A>C)
c.3835+28A>C (n.3835+28A>C)
c.3517+28A>C (n.3517+28A>C)
n.4103+28A>C
 dbSNP gnomAD v2 gnomAD v4
12g.12131793T=CA2016768258BCL2L14,LRP6c.3970+28A= (n.3970+28A=)
c.712-7043T= (n.712-7043T=)
c.3564+28A=
n.291+28A=
c.10+28A= (n.10+28A=)
c.3835+28A= (n.3835+28A=)
c.3517+28A= (n.3517+28A=)
n.4103+28A=
12g.12131794G>ACA6455084BCL2L14,LRP6c.3970+27C>T (n.3970+27C>T)
c.712-7042G>A (n.712-7042G>A)
c.3564+27C>T
n.291+27C>T
c.10+27C>T (n.10+27C>T)
c.3835+27C>T (n.3835+27C>T)
c.3517+27C>T (n.3517+27C>T)
n.4103+27C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.12131794G=CA2016768259BCL2L14,LRP6c.3970+27C= (n.3970+27C=)
c.712-7042G= (n.712-7042G=)
c.3564+27C=
n.291+27C=
c.10+27C= (n.10+27C=)
c.3835+27C= (n.3835+27C=)
c.3517+27C= (n.3517+27C=)
n.4103+27C=
12g.12131794G>TCA2575082223BCL2L14,LRP6c.3970+27C>A (n.3970+27C>A)
c.712-7042G>T (n.712-7042G>T)
c.3564+27C>A
n.291+27C>A
c.10+27C>A (n.10+27C>A)
c.3835+27C>A (n.3835+27C>A)
c.3517+27C>A (n.3517+27C>A)
n.4103+27C>A
 gnomAD v4
12g.12131796T>CCA944804123BCL2L14,LRP6c.3970+25A>G (n.3970+25A>G)
c.712-7040T>C (n.712-7040T>C)
c.3564+25A>G
n.291+25A>G
c.10+25A>G (n.10+25A>G)
c.3835+25A>G (n.3835+25A>G)
c.3517+25A>G (n.3517+25A>G)
n.4103+25A>G
 dbSNP gnomAD v3 gnomAD v4
12g.12131796T=CA2016768260BCL2L14,LRP6c.3970+25A= (n.3970+25A=)
c.712-7040T= (n.712-7040T=)
c.3564+25A=
n.291+25A=
c.10+25A= (n.10+25A=)
c.3835+25A= (n.3835+25A=)
c.3517+25A= (n.3517+25A=)
n.4103+25A=
12g.12131797G>ACA2617687018BCL2L14,LRP6c.3970+24C>T (n.3970+24C>T)
c.712-7039G>A (n.712-7039G>A)
c.3564+24C>T
n.291+24C>T
c.10+24C>T (n.10+24C>T)
c.3835+24C>T (n.3835+24C>T)
c.3517+24C>T (n.3517+24C>T)
n.4103+24C>T
 gnomAD v4
12g.12131797G>TCA2575082224BCL2L14,LRP6c.3970+24C>A (n.3970+24C>A)
c.712-7039G>T (n.712-7039G>T)
c.3564+24C>A
n.291+24C>A
c.10+24C>A (n.10+24C>A)
c.3835+24C>A (n.3835+24C>A)
c.3517+24C>A (n.3517+24C>A)
n.4103+24C>A
12g.12131799G>ACA6455085BCL2L14,LRP6c.3970+22C>T (n.3970+22C>T)
c.712-7037G>A (n.712-7037G>A)
c.3564+22C>T
n.291+22C>T
c.10+22C>T (n.10+22C>T)
c.3835+22C>T (n.3835+22C>T)
c.3517+22C>T (n.3517+22C>T)
n.4103+22C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.12131799G>CCA2617687019BCL2L14,LRP6c.3970+22C>G (n.3970+22C>G)
c.712-7037G>C (n.712-7037G>C)
c.3564+22C>G
n.291+22C>G
c.10+22C>G (n.10+22C>G)
c.3835+22C>G (n.3835+22C>G)
c.3517+22C>G (n.3517+22C>G)
n.4103+22C>G
 gnomAD v4
12g.12131799G=CA2016768261BCL2L14,LRP6c.3970+22C= (n.3970+22C=)
c.712-7037G= (n.712-7037G=)
c.3564+22C=
n.291+22C=
c.10+22C= (n.10+22C=)
c.3835+22C= (n.3835+22C=)
c.3517+22C= (n.3517+22C=)
n.4103+22C=
12g.12131799G>TCA2575082225BCL2L14,LRP6c.3970+22C>A (n.3970+22C>A)
c.712-7037G>T (n.712-7037G>T)
c.3564+22C>A
n.291+22C>A
c.10+22C>A (n.10+22C>A)
c.3835+22C>A (n.3835+22C>A)
c.3517+22C>A (n.3517+22C>A)
n.4103+22C>A
12g.12131800G>ACA684482531BCL2L14,LRP6c.3970+21C>T (n.3970+21C>T)
c.712-7036G>A (n.712-7036G>A)
c.3564+21C>T
n.291+21C>T
c.10+21C>T (n.10+21C>T)
c.3835+21C>T (n.3835+21C>T)
c.3517+21C>T (n.3517+21C>T)
n.4103+21C>T
 dbSNP gnomAD v3 gnomAD v4
12g.12131800G=CA2016768262BCL2L14,LRP6c.3970+21C= (n.3970+21C=)
c.712-7036G= (n.712-7036G=)
c.3564+21C=
n.291+21C=
c.10+21C= (n.10+21C=)
c.3835+21C= (n.3835+21C=)
c.3517+21C= (n.3517+21C=)
n.4103+21C=
12g.12131800G>TCA2575082226BCL2L14,LRP6c.3970+21C>A (n.3970+21C>A)
c.712-7036G>T (n.712-7036G>T)
c.3564+21C>A
n.291+21C>A
c.10+21C>A (n.10+21C>A)
c.3835+21C>A (n.3835+21C>A)
c.3517+21C>A (n.3517+21C>A)
n.4103+21C>A
12g.12131801C>TCA2794575996BCL2L14,LRP6c.3970+20G>A (n.3970+20G>A)
c.712-7035C>T (n.712-7035C>T)
c.3564+20G>A
n.291+20G>A
c.10+20G>A (n.10+20G>A)
c.3835+20G>A (n.3835+20G>A)
c.3517+20G>A (n.3517+20G>A)
n.4103+20G>A
12g.12131802A>CCA2617687020BCL2L14,LRP6c.3970+19T>G (n.3970+19T>G)
c.712-7034A>C (n.712-7034A>C)
c.3564+19T>G
n.291+19T>G
c.10+19T>G (n.10+19T>G)
c.3835+19T>G (n.3835+19T>G)
c.3517+19T>G (n.3517+19T>G)
n.4103+19T>G
 gnomAD v4
12g.12131803C>ACA2617687021BCL2L14,LRP6c.3970+18G>T (n.3970+18G>T)
c.712-7033C>A (n.712-7033C>A)
c.3564+18G>T
n.291+18G>T
c.10+18G>T (n.10+18G>T)
c.3835+18G>T (n.3835+18G>T)
c.3517+18G>T (n.3517+18G>T)
n.4103+18G>T
 gnomAD v4
12g.12131805G>ACA2617687022BCL2L14,LRP6c.3970+16C>T (n.3970+16C>T)
c.712-7031G>A (n.712-7031G>A)
c.3564+16C>T
n.291+16C>T
c.10+16C>T (n.10+16C>T)
c.3835+16C>T (n.3835+16C>T)
c.3517+16C>T (n.3517+16C>T)
n.4103+16C>T
 gnomAD v4
12g.12131805G=CA2016768263BCL2L14,LRP6c.3970+16C= (n.3970+16C=)
c.712-7031G= (n.712-7031G=)
c.3564+16C=
n.291+16C=
c.10+16C= (n.10+16C=)
c.3835+16C= (n.3835+16C=)
c.3517+16C= (n.3517+16C=)
n.4103+16C=
12g.12131805G>TCA2016768264BCL2L14,LRP6c.3970+16C>A (n.3970+16C>A)
c.712-7031G>T (n.712-7031G>T)
c.3564+16C>A
n.291+16C>A
c.10+16C>A (n.10+16C>A)
c.3835+16C>A (n.3835+16C>A)
c.3517+16C>A (n.3517+16C>A)
n.4103+16C>A
 dbSNP gnomAD v4
12g.12131808G>CCA2617687023BCL2L14,LRP6c.3970+13C>G (n.3970+13C>G)
c.712-7028G>C (n.712-7028G>C)
c.3564+13C>G
n.291+13C>G
c.10+13C>G (n.10+13C>G)
c.3835+13C>G (n.3835+13C>G)
c.3517+13C>G (n.3517+13C>G)
n.4103+13C>G
 gnomAD v4
12g.12131808G>TCA2617687024BCL2L14,LRP6c.3970+13C>A (n.3970+13C>A)
c.712-7028G>T (n.712-7028G>T)
c.3564+13C>A
n.291+13C>A
c.10+13C>A (n.10+13C>A)
c.3835+13C>A (n.3835+13C>A)
c.3517+13C>A (n.3517+13C>A)
n.4103+13C>A
 gnomAD v4
12g.12131811T>CCA603494165BCL2L14,LRP6c.3970+10A>G (n.3970+10A>G)
c.712-7025T>C (n.712-7025T>C)
c.3564+10A>G
n.291+10A>G
c.10+10A>G (n.10+10A>G)
c.3835+10A>G (n.3835+10A>G)
c.3517+10A>G (n.3517+10A>G)
n.4103+10A>G
 dbSNP gnomAD v2 gnomAD v4
12g.12131811T=CA2016768265BCL2L14,LRP6c.3970+10A= (n.3970+10A=)
c.712-7025T= (n.712-7025T=)
c.3564+10A=
n.291+10A=
c.10+10A= (n.10+10A=)
c.3835+10A= (n.3835+10A=)
c.3517+10A= (n.3517+10A=)
n.4103+10A=
12g.12131812T>GCA2016768267BCL2L14,LRP6c.3970+9A>C (n.3970+9A>C)
c.712-7024T>G (n.712-7024T>G)
c.3564+9A>C
n.291+9A>C
c.10+9A>C (n.10+9A>C)
c.3835+9A>C (n.3835+9A>C)
c.3517+9A>C (n.3517+9A>C)
n.4103+9A>C
 dbSNP gnomAD v4
12g.12131812T=CA2016768266BCL2L14,LRP6c.3970+9A= (n.3970+9A=)
c.712-7024T= (n.712-7024T=)
c.3564+9A=
n.291+9A=
c.10+9A= (n.10+9A=)
c.3835+9A= (n.3835+9A=)
c.3517+9A= (n.3517+9A=)
n.4103+9A=
12g.12131813C>GCA2617687025BCL2L14,LRP6c.3970+8G>C (n.3970+8G>C)
c.712-7023C>G (n.712-7023C>G)
c.3564+8G>C
n.291+8G>C
c.10+8G>C (n.10+8G>C)
c.3835+8G>C (n.3835+8G>C)
c.3517+8G>C (n.3517+8G>C)
n.4103+8G>C
 gnomAD v4
12g.12131814T>CCA944804127BCL2L14,LRP6c.3970+7A>G (n.3970+7A>G)
c.712-7022T>C (n.712-7022T>C)
c.3564+7A>G
n.291+7A>G
c.10+7A>G (n.10+7A>G)
c.3835+7A>G (n.3835+7A>G)
c.3517+7A>G (n.3517+7A>G)
n.4103+7A>G
 dbSNP gnomAD v3 gnomAD v4
12g.12131814T=CA2016768268BCL2L14,LRP6c.3970+7A= (n.3970+7A=)
c.712-7022T= (n.712-7022T=)
c.3564+7A=
n.291+7A=
c.10+7A= (n.10+7A=)
c.3835+7A= (n.3835+7A=)
c.3517+7A= (n.3517+7A=)
n.4103+7A=
12g.12131815G>ACA2617687026BCL2L14,LRP6c.3970+6C>T (n.3970+6C>T)
c.712-7021G>A (n.712-7021G>A)
c.3564+6C>T
n.291+6C>T
c.10+6C>T (n.10+6C>T)
c.3835+6C>T (n.3835+6C>T)
c.3517+6C>T (n.3517+6C>T)
n.4103+6C>T
 gnomAD v4
12g.12131816G>ACA2617687027BCL2L14,LRP6c.3970+5C>T (n.3970+5C>T)
c.712-7020G>A (n.712-7020G>A)
c.3564+5C>T
n.291+5C>T
c.10+5C>T (n.10+5C>T)
c.3835+5C>T (n.3835+5C>T)
c.3517+5C>T (n.3517+5C>T)
n.4103+5C>T
 gnomAD v4
12g.12131816G>CCA684482537BCL2L14,LRP6c.3970+5C>G (n.3970+5C>G)
c.712-7020G>C (n.712-7020G>C)
c.3564+5C>G
n.291+5C>G
c.10+5C>G (n.10+5C>G)
c.3835+5C>G (n.3835+5C>G)
c.3517+5C>G (n.3517+5C>G)
n.4103+5C>G
 dbSNP
12g.12131816G=CA2016768269BCL2L14,LRP6c.3970+5C= (n.3970+5C=)
c.712-7020G= (n.712-7020G=)
c.3564+5C=
n.291+5C=
c.10+5C= (n.10+5C=)
c.3835+5C= (n.3835+5C=)
c.3517+5C= (n.3517+5C=)
n.4103+5C=
12g.12131817A>TCA2794575997BCL2L14,LRP6c.3970+4T>A (n.3970+4T>A)
c.712-7019A>T (n.712-7019A>T)
c.3564+4T>A
n.291+4T>A
c.10+4T>A (n.10+4T>A)
c.3835+4T>A (n.3835+4T>A)
c.3517+4T>A (n.3517+4T>A)
n.4103+4T>A
12g.12131818T>CCA2575082227BCL2L14,LRP6c.3970+3A>G (n.3970+3A>G)
c.712-7018T>C (n.712-7018T>C)
c.3564+3A>G
n.291+3A>G
c.10+3A>G (n.10+3A>G)
c.3835+3A>G (n.3835+3A>G)
c.3517+3A>G (n.3517+3A>G)
n.4103+3A>G
 gnomAD v4
12g.12131819A>CCA383951114BCL2L14,LRP6c.3970+2T>G (n.3970+2T>G)
c.712-7017A>C (n.712-7017A>C)
c.3564+2T>G
n.291+2T>G
c.10+2T>G (n.10+2T>G)
c.3835+2T>G (n.3835+2T>G)
c.3517+2T>G (n.3517+2T>G)
n.4103+2T>G
12g.12131819A>GCA383951117BCL2L14,LRP6c.3970+2T>C (n.3970+2T>C)
c.712-7017A>G (n.712-7017A>G)
c.3564+2T>C
n.291+2T>C
c.10+2T>C (n.10+2T>C)
c.3835+2T>C (n.3835+2T>C)
c.3517+2T>C (n.3517+2T>C)
n.4103+2T>C
 gnomAD v4
12g.12131819A>TCA383951121BCL2L14,LRP6c.3970+2T>A (n.3970+2T>A)
c.712-7017A>T (n.712-7017A>T)
c.3564+2T>A
n.291+2T>A
c.10+2T>A (n.10+2T>A)
c.3835+2T>A (n.3835+2T>A)
c.3517+2T>A (n.3517+2T>A)
n.4103+2T>A
12g.12131820C>ACA383951124BCL2L14,LRP6c.3970+1G>T (n.3970+1G>T)
c.712-7016C>A (n.712-7016C>A)
c.3564+1G>T
n.291+1G>T
c.10+1G>T (n.10+1G>T)
c.3835+1G>T (n.3835+1G>T)
c.3517+1G>T (n.3517+1G>T)
n.4103+1G>T
12g.12131820C>GCA383951125BCL2L14,LRP6c.3970+1G>C (n.3970+1G>C)
c.712-7016C>G (n.712-7016C>G)
c.3564+1G>C
n.291+1G>C
c.10+1G>C (n.10+1G>C)
c.3835+1G>C (n.3835+1G>C)
c.3517+1G>C (n.3517+1G>C)
n.4103+1G>C
12g.12131820C>TCA383951122BCL2L14,LRP6c.3970+1G>A (n.3970+1G>A)
c.712-7016C>T (n.712-7016C>T)
c.3564+1G>A
n.291+1G>A
c.10+1G>A (n.10+1G>A)
c.3835+1G>A (n.3835+1G>A)
c.3517+1G>A (n.3517+1G>A)
n.4103+1G>A
 gnomAD v4
12g.12131821C>ACA383951127BCL2L14,LRP6c.3970G>T (p.Val1324Leu)
c.712-7015C>A (n.712-7015C>A)
c.3564G>T
n.291G>T
c.10G>T (p.Val4Leu)
c.3835G>T (p.Val1279Leu)
c.3517G>T (p.Val1173Leu)
n.4103G>T
12g.12131821C>GCA383951129BCL2L14,LRP6c.3970G>C (p.Val1324Leu)
c.712-7015C>G (n.712-7015C>G)
c.3564G>C
n.291G>C
c.10G>C (p.Val4Leu)
c.3835G>C (p.Val1279Leu)
c.3517G>C (p.Val1173Leu)
n.4103G>C
12g.12131821C>TCA383951131BCL2L14,LRP6c.3970G>A (p.Val1324Met)
c.712-7015C>T (n.712-7015C>T)
c.3564G>A
n.291G>A
c.10G>A (p.Val4Met)
c.3835G>A (p.Val1279Met)
c.3517G>A (p.Val1173Met)
n.4103G>A
12g.12131822T>ACA383951133BCL2L14,LRP6c.3969A>T (p.Glu1323Asp)
c.712-7014T>A (n.712-7014T>A)
c.3563A>T
n.290A>T
c.9A>T (p.Glu3Asp)
c.3834A>T (p.Glu1278Asp)
c.3516A>T (p.Glu1172Asp)
n.4102A>T
12g.12131822T>CCA478843622BCL2L14,LRP6c.3969A>G (p.Glu1323=)
c.712-7014T>C (n.712-7014T>C)
c.3563A>G
n.290A>G
c.9A>G (p.Glu3=)
c.3834A>G (p.Glu1278=)
c.3516A>G (p.Glu1172=)
n.4102A>G
12g.12131822T>GCA383951135BCL2L14,LRP6c.3969A>C (p.Glu1323Asp)
c.712-7014T>G (n.712-7014T>G)
c.3563A>C
n.290A>C
c.9A>C (p.Glu3Asp)
c.3834A>C (p.Glu1278Asp)
c.3516A>C (p.Glu1172Asp)
n.4102A>C
12g.12131823T>ACA383951138BCL2L14,LRP6c.3968A>T (p.Glu1323Val)
c.712-7013T>A (n.712-7013T>A)
c.3562A>T
n.289A>T
c.8A>T (p.Glu3Val)
c.3833A>T (p.Glu1278Val)
c.3515A>T (p.Glu1172Val)
n.4101A>T
12g.12131823T>CCA383951139BCL2L14,LRP6c.3968A>G (p.Glu1323Gly)
c.712-7013T>C (n.712-7013T>C)
c.3562A>G
n.289A>G
c.8A>G (p.Glu3Gly)
c.3833A>G (p.Glu1278Gly)
c.3515A>G (p.Glu1172Gly)
n.4101A>G
12g.12131823T>GCA383951141BCL2L14,LRP6c.3968A>C (p.Glu1323Ala)
c.712-7013T>G (n.712-7013T>G)
c.3562A>C
n.289A>C
c.8A>C (p.Glu3Ala)
c.3833A>C (p.Glu1278Ala)
c.3515A>C (p.Glu1172Ala)
n.4101A>C
12g.12131824C>ACA383951143BCL2L14,LRP6c.3967G>T (p.Glu1323Ter)
c.712-7012C>A (n.712-7012C>A)
c.3561G>T
n.288G>T
c.7G>T (p.Glu3Ter)
c.3832G>T (p.Glu1278Ter)
c.3514G>T (p.Glu1172Ter)
n.4100G>T
12g.12131824C>GCA383951145BCL2L14,LRP6c.3967G>C (p.Glu1323Gln)
c.712-7012C>G (n.712-7012C>G)
c.3561G>C
n.288G>C
c.7G>C (p.Glu3Gln)
c.3832G>C (p.Glu1278Gln)
c.3514G>C (p.Glu1172Gln)
n.4100G>C
12g.12131824C>TCA383951147BCL2L14,LRP6c.3967G>A (p.Glu1323Lys)
c.712-7012C>T (n.712-7012C>T)
c.3561G>A
n.288G>A
c.7G>A (p.Glu3Lys)
c.3832G>A (p.Glu1278Lys)
c.3514G>A (p.Glu1172Lys)
n.4100G>A
12g.12131825A>CCA383951148BCL2L14,LRP6c.3966T>G (p.Cys1322Trp)
c.712-7011A>C (n.712-7011A>C)
c.3560T>G
n.287T>G
c.6T>G (p.Cys2Trp)
c.3831T>G (p.Cys1277Trp)
c.3513T>G (p.Cys1171Trp)
n.4099T>G
12g.12131825A>GCA478843663BCL2L14,LRP6c.3966T>C (p.Cys1322=)
c.712-7011A>G (n.712-7011A>G)
c.3560T>C
n.287T>C
c.6T>C (p.Cys2=)
c.3831T>C (p.Cys1277=)
c.3513T>C (p.Cys1171=)
n.4099T>C
 gnomAD v4
12g.12131825A>TCA383951150BCL2L14,LRP6c.3966T>A (p.Cys1322Ter)
c.712-7011A>T (n.712-7011A>T)
c.3560T>A
n.287T>A
c.6T>A (p.Cys2Ter)
c.3831T>A (p.Cys1277Ter)
c.3513T>A (p.Cys1171Ter)
n.4099T>A
12g.12131826C>ACA383951157BCL2L14,LRP6c.3965G>T (p.Cys1322Phe)
c.712-7010C>A (n.712-7010C>A)
c.3559G>T
n.286G>T
c.5G>T (p.Cys2Phe)
c.3830G>T (p.Cys1277Phe)
c.3512G>T (p.Cys1171Phe)
n.4098G>T
12g.12131826C>GCA383951154BCL2L14,LRP6c.3965G>C (p.Cys1322Ser)
c.712-7010C>G (n.712-7010C>G)
c.3559G>C
n.286G>C
c.5G>C (p.Cys2Ser)
c.3830G>C (p.Cys1277Ser)
c.3512G>C (p.Cys1171Ser)
n.4098G>C
12g.12131826C>TCA383951152BCL2L14,LRP6c.3965G>A (p.Cys1322Tyr)
c.712-7010C>T (n.712-7010C>T)
c.3559G>A
n.286G>A
c.5G>A (p.Cys2Tyr)
c.3830G>A (p.Cys1277Tyr)
c.3512G>A (p.Cys1171Tyr)
n.4098G>A
12g.12131827A>CCA383951158BCL2L14,LRP6c.3964T>G (p.Cys1322Gly)
c.712-7009A>C (n.712-7009A>C)
c.3558T>G
n.285T>G
c.4T>G (p.Cys2Gly)
c.3829T>G (p.Cys1277Gly)
c.3511T>G (p.Cys1171Gly)
n.4097T>G
12g.12131827A>GCA383951160BCL2L14,LRP6c.3964T>C (p.Cys1322Arg)
c.712-7009A>G (n.712-7009A>G)
c.3558T>C
n.285T>C
c.4T>C (p.Cys2Arg)
c.3829T>C (p.Cys1277Arg)
c.3511T>C (p.Cys1171Arg)
n.4097T>C
 ClinVar
12g.12131827A>TCA383951161BCL2L14,LRP6c.3964T>A (p.Cys1322Ser)
c.712-7009A>T (n.712-7009A>T)
c.3558T>A
n.285T>A
c.4T>A (p.Cys2Ser)
c.3829T>A (p.Cys1277Ser)
c.3511T>A (p.Cys1171Ser)
n.4097T>A
12g.12131828G>ACA478843666BCL2L14,LRP6c.3963C>T (p.Asn1321=)
c.712-7008G>A (n.712-7008G>A)
c.3557C>T
n.284C>T
c.3C>T (p.Asn1=)
c.3828C>T (p.Asn1276=)
c.3510C>T (p.Asn1170=)
n.4096C>T
12g.12131828G>CCA383951165BCL2L14,LRP6c.3963C>G (p.Asn1321Lys)
c.712-7008G>C (n.712-7008G>C)
c.3557C>G
n.284C>G
c.3C>G (p.Asn1Lys)
c.3828C>G (p.Asn1276Lys)
c.3510C>G (p.Asn1170Lys)
n.4096C>G
12g.12131828G>TCA383951166BCL2L14,LRP6c.3963C>A (p.Asn1321Lys)
c.712-7008G>T (n.712-7008G>T)
c.3557C>A
n.284C>A
c.3C>A (p.Asn1Lys)
c.3828C>A (p.Asn1276Lys)
c.3510C>A (p.Asn1170Lys)
n.4096C>A
12g.12131828_12131831delinsGTTCCA2016768270BCL2L14,LRP6c.3960_3963delinsGAAC (p.Lys1320=)
c.712-7008_712-7005delinsGTTC (n.712-7008_712-7005delinsGTTC)
c.3554_3557delinsGAAC
n.281_284delinsGAAC
c.3825_3828delinsGAAC (p.Lys1275=)
c.3507_3510delinsGAAC (p.Lys1169=)
n.4093_4096delinsGAAC
12g.12131829T>ACA383951169BCL2L14,LRP6c.3962A>T (p.Asn1321Ile)
c.712-7007T>A (n.712-7007T>A)
c.3556A>T
n.283A>T
c.2A>T (p.Asn1Ile)
c.3827A>T (p.Asn1276Ile)
c.3509A>T (p.Asn1170Ile)
n.4095A>T
12g.12131829T>CCA383951170BCL2L14,LRP6c.3962A>G (p.Asn1321Ser)
c.712-7007T>C (n.712-7007T>C)
c.3556A>G
n.283A>G
c.2A>G (p.Asn1Ser)
c.3827A>G (p.Asn1276Ser)
c.3509A>G (p.Asn1170Ser)
n.4095A>G
12g.12131829T>GCA383951172BCL2L14,LRP6c.3962A>C (p.Asn1321Thr)
c.712-7007T>G (n.712-7007T>G)
c.3556A>C
n.283A>C
c.2A>C (p.Asn1Thr)
c.3827A>C (p.Asn1276Thr)
c.3509A>C (p.Asn1170Thr)
n.4095A>C
 gnomAD v4
12g.12131833_12131835delCA2016768271BCL2L14,LRP6c.3960_3962del (p.Lys1320del)
c.712-7003_712-7001del (n.712-7003_712-7001del)
c.3554_3556del
n.281_283del
c.3825_3827del (p.Lys1275del)
c.3507_3509del (p.Lys1169del)
n.4093_4095del
 dbSNP
12g.12131830T>ACA383951175BCL2L14,LRP6c.3961A>T (p.Asn1321Tyr)
c.712-7006T>A (n.712-7006T>A)
c.3555A>T
n.282A>T
c.1A>T (p.Asn1Tyr)
c.3826A>T (p.Asn1276Tyr)
c.3508A>T (p.Asn1170Tyr)
n.4094A>T
 gnomAD v4
12g.12131830T>CCA383951176BCL2L14,LRP6c.3961A>G (p.Asn1321Asp)
c.712-7006T>C (n.712-7006T>C)
c.3555A>G
n.282A>G
c.1A>G (p.Asn1Asp)
c.3826A>G (p.Asn1276Asp)
c.3508A>G (p.Asn1170Asp)
n.4094A>G
12g.12131830T>GCA383951178BCL2L14,LRP6c.3961A>C (p.Asn1321His)
c.712-7006T>G (n.712-7006T>G)
c.3555A>C
n.282A>C
c.1A>C (p.Asn1His)
c.3826A>C (p.Asn1276His)
c.3508A>C (p.Asn1170His)
n.4094A>C
12g.12131831C>ACA383951180BCL2L14,LRP6c.3960G>T (p.Lys1320Asn)
c.712-7005C>A (n.712-7005C>A)
c.3554G>T
n.281G>T
c.3825G>T (p.Lys1275Asn)
c.3507G>T (p.Lys1169Asn)
n.4093G>T
 dbSNP gnomAD v3 gnomAD v4
12g.12131831C=CA2016768272BCL2L14,LRP6c.3960G= (p.Lys1320=)
c.712-7005C= (n.712-7005C=)
c.3554G=
n.281G=
c.3825G= (p.Lys1275=)
c.3507G= (p.Lys1169=)
n.4093G=
12g.12131831C>GCA383951181BCL2L14,LRP6c.3960G>C (p.Lys1320Asn)
c.712-7005C>G (n.712-7005C>G)
c.3554G>C
n.281G>C
c.3825G>C (p.Lys1275Asn)
c.3507G>C (p.Lys1169Asn)
n.4093G>C
12g.12131831C>TCA478843671BCL2L14,LRP6c.3960G>A (p.Lys1320=)
c.712-7005C>T (n.712-7005C>T)
c.3554G>A
n.281G>A
c.3825G>A (p.Lys1275=)
c.3507G>A (p.Lys1169=)
n.4093G>A
 gnomAD v4
12g.12131832T>ACA383951182BCL2L14,LRP6c.3959A>T (p.Lys1320Met)
c.712-7004T>A (n.712-7004T>A)
c.3553A>T
n.280A>T
c.3824A>T (p.Lys1275Met)
c.3506A>T (p.Lys1169Met)
n.4092A>T
12g.12131832T>CCA383951187BCL2L14,LRP6c.3959A>G (p.Lys1320Arg)
c.712-7004T>C (n.712-7004T>C)
c.3553A>G
n.280A>G
c.3824A>G (p.Lys1275Arg)
c.3506A>G (p.Lys1169Arg)
n.4092A>G
12g.12131832T>GCA383951184BCL2L14,LRP6c.3959A>C (p.Lys1320Thr)
c.712-7004T>G (n.712-7004T>G)
c.3553A>C
n.280A>C
c.3824A>C (p.Lys1275Thr)
c.3506A>C (p.Lys1169Thr)
n.4092A>C
12g.12131833T>ACA383951189BCL2L14,LRP6c.3958A>T (p.Lys1320Ter)
c.712-7003T>A (n.712-7003T>A)
c.3552A>T
n.279A>T
c.3823A>T (p.Lys1275Ter)
c.3505A>T (p.Lys1169Ter)
n.4091A>T
12g.12131833T>CCA232997892BCL2L14,LRP6c.3958A>G (p.Lys1320Glu)
c.712-7003T>C (n.712-7003T>C)
c.3552A>G
n.279A>G
c.3823A>G (p.Lys1275Glu)
c.3505A>G (p.Lys1169Glu)
n.4091A>G
 dbSNP
12g.12131833T>GCA383951192BCL2L14,LRP6c.3958A>C (p.Lys1320Gln)
c.712-7003T>G (n.712-7003T>G)
c.3552A>C
n.279A>C
c.3823A>C (p.Lys1275Gln)
c.3505A>C (p.Lys1169Gln)
n.4091A>C
12g.12131833T=CA2016768273BCL2L14,LRP6c.3958A= (p.Lys1320=)
c.712-7003T= (n.712-7003T=)
c.3552A=
n.279A=
c.3823A= (p.Lys1275=)
c.3505A= (p.Lys1169=)
n.4091A=
12g.12131834C>ACA6455086BCL2L14,LRP6c.3957G>T (p.Glu1319Asp)
c.712-7002C>A (n.712-7002C>A)
c.3551G>T
n.278G>T
c.3822G>T (p.Glu1274Asp)
c.3504G>T (p.Glu1168Asp)
n.4090G>T
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.12131834C=CA2016768274BCL2L14,LRP6c.3957G= (p.Glu1319=)
c.712-7002C= (n.712-7002C=)
c.3551G=
n.278G=
c.3822G= (p.Glu1274=)
c.3504G= (p.Glu1168=)
n.4090G=
12g.12131834C>GCA383951196BCL2L14,LRP6c.3957G>C (p.Glu1319Asp)
c.712-7002C>G (n.712-7002C>G)
c.3551G>C
n.278G>C
c.3822G>C (p.Glu1274Asp)
c.3504G>C (p.Glu1168Asp)
n.4090G>C
12g.12131834C>TCA478843673BCL2L14,LRP6c.3957G>A (p.Glu1319=)
c.712-7002C>T (n.712-7002C>T)
c.3551G>A
n.278G>A
c.3822G>A (p.Glu1274=)
c.3504G>A (p.Glu1168=)
n.4090G>A
12g.12131835T>ACA383951198BCL2L14,LRP6c.3956A>T (p.Glu1319Val)
c.712-7001T>A (n.712-7001T>A)
c.3550A>T
n.277A>T
c.3821A>T (p.Glu1274Val)
c.3503A>T (p.Glu1168Val)
n.4089A>T
12g.12131835T>CCA383951199BCL2L14,LRP6c.3956A>G (p.Glu1319Gly)
c.712-7001T>C (n.712-7001T>C)
c.3550A>G
n.277A>G
c.3821A>G (p.Glu1274Gly)
c.3503A>G (p.Glu1168Gly)
n.4089A>G
12g.12131835T>GCA383951200BCL2L14,LRP6c.3956A>C (p.Glu1319Ala)
c.712-7001T>G (n.712-7001T>G)
c.3550A>C
n.277A>C
c.3821A>C (p.Glu1274Ala)
c.3503A>C (p.Glu1168Ala)
n.4089A>C
12g.12131836C>ACA383951201BCL2L14,LRP6c.3955G>T (p.Glu1319Ter)
c.712-7000C>A (n.712-7000C>A)
c.3549G>T
n.276G>T
c.3820G>T (p.Glu1274Ter)
c.3502G>T (p.Glu1168Ter)
n.4088G>T
12g.12131836C>GCA383951202BCL2L14,LRP6c.3955G>C (p.Glu1319Gln)
c.712-7000C>G (n.712-7000C>G)
c.3549G>C
n.276G>C
c.3820G>C (p.Glu1274Gln)
c.3502G>C (p.Glu1168Gln)
n.4088G>C
12g.12131836C>TCA383951203BCL2L14,LRP6c.3955G>A (p.Glu1319Lys)
c.712-7000C>T (n.712-7000C>T)
c.3549G>A
n.276G>A
c.3820G>A (p.Glu1274Lys)
c.3502G>A (p.Glu1168Lys)
n.4088G>A
12g.12131837A>CCA383951205BCL2L14,LRP6c.3954T>G (p.Asp1318Glu)
c.712-6999A>C (n.712-6999A>C)
c.3548T>G
n.275T>G
c.3819T>G (p.Asp1273Glu)
c.3501T>G (p.Asp1167Glu)
n.4087T>G
12g.12131837A>GCA478843677BCL2L14,LRP6c.3954T>C (p.Asp1318=)
c.712-6999A>G (n.712-6999A>G)
c.3548T>C
n.275T>C
c.3819T>C (p.Asp1273=)
c.3501T>C (p.Asp1167=)
n.4087T>C
12g.12131837A>TCA383951207BCL2L14,LRP6c.3954T>A (p.Asp1318Glu)
c.712-6999A>T (n.712-6999A>T)
c.3548T>A
n.275T>A
c.3819T>A (p.Asp1273Glu)
c.3501T>A (p.Asp1167Glu)
n.4087T>A
12g.12131838T>ACA383951209BCL2L14,LRP6c.3953A>T (p.Asp1318Val)
c.712-6998T>A (n.712-6998T>A)
c.3547A>T
n.274A>T
c.3818A>T (p.Asp1273Val)
c.3500A>T (p.Asp1167Val)
n.4086A>T
12g.12131838T>CCA383951211BCL2L14,LRP6c.3953A>G (p.Asp1318Gly)
c.712-6998T>C (n.712-6998T>C)
c.3547A>G
n.274A>G
c.3818A>G (p.Asp1273Gly)
c.3500A>G (p.Asp1167Gly)
n.4086A>G
12g.12131838T>GCA383951213BCL2L14,LRP6c.3953A>C (p.Asp1318Ala)
c.712-6998T>G (n.712-6998T>G)
c.3547A>C
n.274A>C
c.3818A>C (p.Asp1273Ala)
c.3500A>C (p.Asp1167Ala)
n.4086A>C
12g.12131839C>ACA383951216BCL2L14,LRP6c.3952G>T (p.Asp1318Tyr)
c.712-6997C>A (n.712-6997C>A)
c.3546G>T
n.273G>T
c.3817G>T (p.Asp1273Tyr)
c.3499G>T (p.Asp1167Tyr)
n.4085G>T
12g.12131839C>GCA383951214BCL2L14,LRP6c.3952G>C (p.Asp1318His)
c.712-6997C>G (n.712-6997C>G)
c.3546G>C
n.273G>C
c.3817G>C (p.Asp1273His)
c.3499G>C (p.Asp1167His)
n.4085G>C
12g.12131839C>TCA383951215BCL2L14,LRP6c.3952G>A (p.Asp1318Asn)
c.712-6997C>T (n.712-6997C>T)
c.3546G>A
n.273G>A
c.3817G>A (p.Asp1273Asn)
c.3499G>A (p.Asp1167Asn)
n.4085G>A
12g.12131840T>ACA478843682BCL2L14,LRP6c.3951A>T (p.Ser1317=)
c.712-6996T>A (n.712-6996T>A)
c.3545A>T
n.272A>T
c.3816A>T (p.Ser1272=)
c.3498A>T (p.Ser1166=)
n.4084A>T
12g.12131840T>CCA478843684BCL2L14,LRP6c.3951A>G (p.Ser1317=)
c.712-6996T>C (n.712-6996T>C)
c.3545A>G
n.272A>G
c.3816A>G (p.Ser1272=)
c.3498A>G (p.Ser1166=)
n.4084A>G
12g.12131840T>GCA478843685BCL2L14,LRP6c.3951A>C (p.Ser1317=)
c.712-6996T>G (n.712-6996T>G)
c.3545A>C
n.272A>C
c.3816A>C (p.Ser1272=)
c.3498A>C (p.Ser1166=)
n.4084A>C
12g.12131841G>ACA383951218BCL2L14,LRP6c.3950C>T (p.Ser1317Leu)
c.712-6995G>A (n.712-6995G>A)
c.3544C>T
n.271C>T
c.3815C>T (p.Ser1272Leu)
c.3497C>T (p.Ser1166Leu)
n.4083C>T
12g.12131841G>CCA383951220BCL2L14,LRP6c.3950C>G (p.Ser1317Ter)
c.712-6995G>C (n.712-6995G>C)
c.3544C>G
n.271C>G
c.3815C>G (p.Ser1272Ter)
c.3497C>G (p.Ser1166Ter)
n.4083C>G
12g.12131841G>TCA383951222BCL2L14,LRP6c.3950C>A (p.Ser1317Ter)
c.712-6995G>T (n.712-6995G>T)
c.3544C>A
n.271C>A
c.3815C>A (p.Ser1272Ter)
c.3497C>A (p.Ser1166Ter)
n.4083C>A
12g.12131842A>CCA383951224BCL2L14,LRP6c.3949T>G (p.Ser1317Ala)
c.712-6994A>C (n.712-6994A>C)
c.3543T>G
n.270T>G
c.3814T>G (p.Ser1272Ala)
c.3496T>G (p.Ser1166Ala)
n.4082T>G
12g.12131842A>GCA383951226BCL2L14,LRP6c.3949T>C (p.Ser1317Pro)
c.712-6994A>G (n.712-6994A>G)
c.3543T>C
n.270T>C
c.3814T>C (p.Ser1272Pro)
c.3496T>C (p.Ser1166Pro)
n.4082T>C
12g.12131842A>TCA383951228BCL2L14,LRP6c.3949T>A (p.Ser1317Thr)
c.712-6994A>T (n.712-6994A>T)
c.3543T>A
n.270T>A
c.3814T>A (p.Ser1272Thr)
c.3496T>A (p.Ser1166Thr)
n.4082T>A
12g.12131843T>ACA6455087BCL2L14,LRP6c.3948A>T (p.Lys1316Asn)
c.712-6993T>A (n.712-6993T>A)
c.3542A>T
n.269A>T
c.3813A>T (p.Lys1271Asn)
c.3495A>T (p.Lys1165Asn)
n.4081A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.12131843T>CCA478843690BCL2L14,LRP6c.3948A>G (p.Lys1316=)
c.712-6993T>C (n.712-6993T>C)
c.3542A>G
n.269A>G
c.3813A>G (p.Lys1271=)
c.3495A>G (p.Lys1165=)
n.4081A>G
12g.12131843T>GCA383951230BCL2L14,LRP6c.3948A>C (p.Lys1316Asn)
c.712-6993T>G (n.712-6993T>G)
c.3542A>C
n.269A>C
c.3813A>C (p.Lys1271Asn)
c.3495A>C (p.Lys1165Asn)
n.4081A>C
12g.12131843T=CA2016768275BCL2L14,LRP6c.3948A= (p.Lys1316=)
c.712-6993T= (n.712-6993T=)
c.3542A=
n.269A=
c.3813A= (p.Lys1271=)
c.3495A= (p.Lys1165=)
n.4081A=
12g.12131844T>ACA6455088BCL2L14,LRP6c.3947A>T (p.Lys1316Ile)
c.712-6992T>A (n.712-6992T>A)
c.3541A>T
n.268A>T
c.3812A>T (p.Lys1271Ile)
c.3494A>T (p.Lys1165Ile)
n.4080A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.12131844T>CCA383951232BCL2L14,LRP6c.3947A>G (p.Lys1316Arg)
c.712-6992T>C (n.712-6992T>C)
c.3541A>G
n.268A>G
c.3812A>G (p.Lys1271Arg)
c.3494A>G (p.Lys1165Arg)
n.4080A>G
12g.12131844T>GCA383951234BCL2L14,LRP6c.3947A>C (p.Lys1316Thr)
c.712-6992T>G (n.712-6992T>G)
c.3541A>C
n.268A>C
c.3812A>C (p.Lys1271Thr)
c.3494A>C (p.Lys1165Thr)
n.4080A>C
12g.12131844T=CA2016768276BCL2L14,LRP6c.3947A= (p.Lys1316=)
c.712-6992T= (n.712-6992T=)
c.3541A=
n.268A=
c.3812A= (p.Lys1271=)
c.3494A= (p.Lys1165=)
n.4080A=
12g.12131845T>ACA383951238BCL2L14,LRP6c.3946A>T (p.Lys1316Ter)
c.712-6991T>A (n.712-6991T>A)
c.3540A>T
n.267A>T
c.3811A>T (p.Lys1271Ter)
c.3493A>T (p.Lys1165Ter)
n.4079A>T
12g.12131845T>CCA383951239BCL2L14,LRP6c.3946A>G (p.Lys1316Glu)
c.712-6991T>C (n.712-6991T>C)
c.3540A>G
n.267A>G
c.3811A>G (p.Lys1271Glu)
c.3493A>G (p.Lys1165Glu)
n.4079A>G
12g.12131845T>GCA383951236BCL2L14,LRP6c.3946A>C (p.Lys1316Gln)
c.712-6991T>G (n.712-6991T>G)
c.3540A>C
n.267A>C
c.3811A>C (p.Lys1271Gln)
c.3493A>C (p.Lys1165Gln)
n.4079A>C
12g.12131846G>ACA6455089BCL2L14,LRP6c.3945C>T (p.Asp1315=)
c.712-6990G>A (n.712-6990G>A)
c.3539C>T
n.266C>T
c.3810C>T (p.Asp1270=)
c.3492C>T (p.Asp1164=)
n.4078C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.12131846G>CCA383951243BCL2L14,LRP6c.3945C>G (p.Asp1315Glu)
c.712-6990G>C (n.712-6990G>C)
c.3539C>G
n.266C>G
c.3810C>G (p.Asp1270Glu)
c.3492C>G (p.Asp1164Glu)
n.4078C>G
 dbSNP gnomAD v2 gnomAD v4
12g.12131846G=CA2016768277BCL2L14,LRP6c.3945C= (p.Asp1315=)
c.712-6990G= (n.712-6990G=)
c.3539C=
n.266C=
c.3810C= (p.Asp1270=)
c.3492C= (p.Asp1164=)
n.4078C=
12g.12131846G>TCA383951245BCL2L14,LRP6c.3945C>A (p.Asp1315Glu)
c.712-6990G>T (n.712-6990G>T)
c.3539C>A
n.266C>A
c.3810C>A (p.Asp1270Glu)
c.3492C>A (p.Asp1164Glu)
n.4078C>A
12g.12131847T>ACA383951247BCL2L14,LRP6c.3944A>T (p.Asp1315Val)
c.712-6989T>A (n.712-6989T>A)
c.3538A>T
n.265A>T
c.3809A>T (p.Asp1270Val)
c.3491A>T (p.Asp1164Val)
n.4077A>T
 gnomAD v4
12g.12131847T>CCA383951249BCL2L14,LRP6c.3944A>G (p.Asp1315Gly)
c.712-6989T>C (n.712-6989T>C)
c.3538A>G
n.265A>G
c.3809A>G (p.Asp1270Gly)
c.3491A>G (p.Asp1164Gly)
n.4077A>G
12g.12131847T>GCA383951251BCL2L14,LRP6c.3944A>C (p.Asp1315Ala)
c.712-6989T>G (n.712-6989T>G)
c.3538A>C
n.265A>C
c.3809A>C (p.Asp1270Ala)
c.3491A>C (p.Asp1164Ala)
n.4077A>C
12g.12131848C>ACA383951253BCL2L14,LRP6c.3943G>T (p.Asp1315Tyr)
c.712-6988C>A (n.712-6988C>A)
c.3537G>T
n.264G>T
c.3808G>T (p.Asp1270Tyr)
c.3490G>T (p.Asp1164Tyr)
n.4076G>T
12g.12131848C>GCA383951256BCL2L14,LRP6c.3943G>C (p.Asp1315His)
c.712-6988C>G (n.712-6988C>G)
c.3537G>C
n.264G>C
c.3808G>C (p.Asp1270His)
c.3490G>C (p.Asp1164His)
n.4076G>C
12g.12131848C>TCA383951257BCL2L14,LRP6c.3943G>A (p.Asp1315Asn)
c.712-6988C>T (n.712-6988C>T)
c.3537G>A
n.264G>A
c.3808G>A (p.Asp1270Asn)
c.3490G>A (p.Asp1164Asn)
n.4076G>A
12g.12131849C>ACA383951259BCL2L14,LRP6c.3942G>T (p.Gln1314His)
c.712-6987C>A (n.712-6987C>A)
c.3536G>T
n.263G>T
c.3807G>T (p.Gln1269His)
c.3489G>T (p.Gln1163His)
n.4075G>T
12g.12131849C=CA2016768278BCL2L14,LRP6c.3942G= (p.Gln1314=)
c.712-6987C= (n.712-6987C=)
c.3536G=
n.263G=
c.3807G= (p.Gln1269=)
c.3489G= (p.Gln1163=)
n.4075G=
12g.12131849C>GCA383951260BCL2L14,LRP6c.3942G>C (p.Gln1314His)
c.712-6987C>G (n.712-6987C>G)
c.3536G>C
n.263G>C
c.3807G>C (p.Gln1269His)
c.3489G>C (p.Gln1163His)
n.4075G>C
12g.12131849C>TCA6455090BCL2L14,LRP6c.3942G>A (p.Gln1314=)
c.712-6987C>T (n.712-6987C>T)
c.3536G>A
n.263G>A
c.3807G>A (p.Gln1269=)
c.3489G>A (p.Gln1163=)
n.4075G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.12131850T>ACA383951264BCL2L14,LRP6c.3941A>T (p.Gln1314Leu)
c.712-6986T>A (n.712-6986T>A)
c.3535A>T
n.262A>T
c.3806A>T (p.Gln1269Leu)
c.3488A>T (p.Gln1163Leu)
n.4074A>T
12g.12131850T>CCA383951266BCL2L14,LRP6c.3941A>G (p.Gln1314Arg)
c.712-6986T>C (n.712-6986T>C)
c.3535A>G
n.262A>G
c.3806A>G (p.Gln1269Arg)
c.3488A>G (p.Gln1163Arg)
n.4074A>G
12g.12131850T>GCA383951263BCL2L14,LRP6c.3941A>C (p.Gln1314Pro)
c.712-6986T>G (n.712-6986T>G)
c.3535A>C
n.262A>C
c.3806A>C (p.Gln1269Pro)
c.3488A>C (p.Gln1163Pro)
n.4074A>C
12g.12131851G>ACA383951268BCL2L14,LRP6c.3940C>T (p.Gln1314Ter)
c.712-6985G>A (n.712-6985G>A)
c.3534C>T
n.261C>T
c.3805C>T (p.Gln1269Ter)
c.3487C>T (p.Gln1163Ter)
n.4073C>T
12g.12131851G>CCA383951269BCL2L14,LRP6c.3940C>G (p.Gln1314Glu)
c.712-6985G>C (n.712-6985G>C)
c.3534C>G
n.261C>G
c.3805C>G (p.Gln1269Glu)
c.3487C>G (p.Gln1163Glu)
n.4073C>G
12g.12131851G>TCA383951271BCL2L14,LRP6c.3940C>A (p.Gln1314Lys)
c.712-6985G>T (n.712-6985G>T)
c.3534C>A
n.261C>A
c.3805C>A (p.Gln1269Lys)
c.3487C>A (p.Gln1163Lys)
n.4073C>A
12g.12131852G>ACA478843700BCL2L14,LRP6c.3939C>T (p.Cys1313=)
c.712-6984G>A (n.712-6984G>A)
c.3533C>T
n.260C>T
c.3804C>T (p.Cys1268=)
c.3486C>T (p.Cys1162=)
n.4072C>T
 dbSNP gnomAD v2 gnomAD v4
12g.12131852G>CCA383951273BCL2L14,LRP6c.3939C>G (p.Cys1313Trp)
c.712-6984G>C (n.712-6984G>C)
c.3533C>G
n.260C>G
c.3804C>G (p.Cys1268Trp)
c.3486C>G (p.Cys1162Trp)
n.4072C>G
12g.12131852G=CA2016768279BCL2L14,LRP6c.3939C= (p.Cys1313=)
c.712-6984G= (n.712-6984G=)
c.3533C=
n.260C=
c.3804C= (p.Cys1268=)
c.3486C= (p.Cys1162=)
n.4072C=
12g.12131852G>TCA383951274BCL2L14,LRP6c.3939C>A (p.Cys1313Ter)
c.712-6984G>T (n.712-6984G>T)
c.3533C>A
n.260C>A
c.3804C>A (p.Cys1268Ter)
c.3486C>A (p.Cys1162Ter)
n.4072C>A
12g.12131853C>ACA383951281BCL2L14,LRP6c.3938G>T (p.Cys1313Phe)
c.712-6983C>A (n.712-6983C>A)
c.3532G>T
n.259G>T
c.3803G>T (p.Cys1268Phe)
c.3485G>T (p.Cys1162Phe)
n.4071G>T
12g.12131853C>GCA383951277BCL2L14,LRP6c.3938G>C (p.Cys1313Ser)
c.712-6983C>G (n.712-6983C>G)
c.3532G>C
n.259G>C
c.3803G>C (p.Cys1268Ser)
c.3485G>C (p.Cys1162Ser)
n.4071G>C
12g.12131853C>TCA383951279BCL2L14,LRP6c.3938G>A (p.Cys1313Tyr)
c.712-6983C>T (n.712-6983C>T)
c.3532G>A
n.259G>A
c.3803G>A (p.Cys1268Tyr)
c.3485G>A (p.Cys1162Tyr)
n.4071G>A
12g.12131854A>CCA383951283BCL2L14,LRP6c.3937T>G (p.Cys1313Gly)
c.712-6982A>C (n.712-6982A>C)
c.3531T>G
n.258T>G
c.3802T>G (p.Cys1268Gly)
c.3484T>G (p.Cys1162Gly)
n.4070T>G
12g.12131854A>GCA383951285BCL2L14,LRP6c.3937T>C (p.Cys1313Arg)
c.712-6982A>G (n.712-6982A>G)
c.3531T>C
n.258T>C
c.3802T>C (p.Cys1268Arg)
c.3484T>C (p.Cys1162Arg)
n.4070T>C
12g.12131854A>TCA383951287BCL2L14,LRP6c.3937T>A (p.Cys1313Ser)
c.712-6982A>T (n.712-6982A>T)
c.3531T>A
n.258T>A
c.3802T>A (p.Cys1268Ser)
c.3484T>A (p.Cys1162Ser)
n.4070T>A
12g.12131855G>ACA478843702BCL2L14,LRP6c.3936C>T (p.Asn1312=)
c.712-6981G>A (n.712-6981G>A)
c.3530C>T
n.257C>T
c.3801C>T (p.Asn1267=)
c.3483C>T (p.Asn1161=)
n.4069C>T
12g.12131855G>CCA383951289BCL2L14,LRP6c.3936C>G (p.Asn1312Lys)
c.712-6981G>C (n.712-6981G>C)
c.3530C>G
n.257C>G
c.3801C>G (p.Asn1267Lys)
c.3483C>G (p.Asn1161Lys)
n.4069C>G
 dbSNP
12g.12131855G=CA2016768280BCL2L14,LRP6c.3936C= (p.Asn1312=)
c.712-6981G= (n.712-6981G=)
c.3530C=
n.257C=
c.3801C= (p.Asn1267=)
c.3483C= (p.Asn1161=)
n.4069C=
12g.12131855G>TCA383951291BCL2L14,LRP6c.3936C>A (p.Asn1312Lys)
c.712-6981G>T (n.712-6981G>T)
c.3530C>A
n.257C>A
c.3801C>A (p.Asn1267Lys)
c.3483C>A (p.Asn1161Lys)
n.4069C>A
12g.12131856T>ACA383951297BCL2L14,LRP6c.3935A>T (p.Asn1312Ile)
c.712-6980T>A (n.712-6980T>A)
c.3529A>T
n.256A>T
c.3800A>T (p.Asn1267Ile)
c.3482A>T (p.Asn1161Ile)
n.4068A>T
12g.12131856T>CCA383951295BCL2L14,LRP6c.3935A>G (p.Asn1312Ser)
c.712-6980T>C (n.712-6980T>C)
c.3529A>G
n.256A>G
c.3800A>G (p.Asn1267Ser)
c.3482A>G (p.Asn1161Ser)
n.4068A>G
12g.12131856T>GCA383951293BCL2L14,LRP6c.3935A>C (p.Asn1312Thr)
c.712-6980T>G (n.712-6980T>G)
c.3529A>C
n.256A>C
c.3800A>C (p.Asn1267Thr)
c.3482A>C (p.Asn1161Thr)
n.4068A>C
12g.12131857T>ACA383951299BCL2L14,LRP6c.3934A>T (p.Asn1312Tyr)
c.712-6979T>A (n.712-6979T>A)
c.3528A>T
n.255A>T
c.3799A>T (p.Asn1267Tyr)
c.3481A>T (p.Asn1161Tyr)
n.4067A>T
12g.12131857T>CCA383951300BCL2L14,LRP6c.3934A>G (p.Asn1312Asp)
c.712-6979T>C (n.712-6979T>C)
c.3528A>G
n.255A>G
c.3799A>G (p.Asn1267Asp)
c.3481A>G (p.Asn1161Asp)
n.4067A>G
 gnomAD v4
12g.12131857T>GCA232997893BCL2L14,LRP6c.3934A>C (p.Asn1312His)
c.712-6979T>G (n.712-6979T>G)
c.3528A>C
n.255A>C
c.3799A>C (p.Asn1267His)
c.3481A>C (p.Asn1161His)
n.4067A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.12131857T=CA2016768281BCL2L14,LRP6c.3934A= (p.Asn1312=)
c.712-6979T= (n.712-6979T=)
c.3528A=
n.255A=
c.3799A= (p.Asn1267=)
c.3481A= (p.Asn1161=)
n.4067A=
12g.12131858T>ACA478843709BCL2L14,LRP6c.3933A>T (p.Ala1311=)
c.712-6978T>A (n.712-6978T>A)
c.3527A>T
n.254A>T
c.3798A>T (p.Ala1266=)
c.3480A>T (p.Ala1160=)
n.4066A>T
12g.12131858T>CCA478843707BCL2L14,LRP6c.3933A>G (p.Ala1311=)
c.712-6978T>C (n.712-6978T>C)
c.3527A>G
n.254A>G
c.3798A>G (p.Ala1266=)
c.3480A>G (p.Ala1160=)
n.4066A>G
12g.12131858T>GCA478843708BCL2L14,LRP6c.3933A>C (p.Ala1311=)
c.712-6978T>G (n.712-6978T>G)
c.3527A>C
n.254A>C
c.3798A>C (p.Ala1266=)
c.3480A>C (p.Ala1160=)
n.4066A>C
12g.12131859G>ACA383951302BCL2L14,LRP6c.3932C>T (p.Ala1311Val)
c.712-6977G>A (n.712-6977G>A)
c.3526C>T
n.253C>T
c.3797C>T (p.Ala1266Val)
c.3479C>T (p.Ala1160Val)
n.4065C>T
 dbSNP gnomAD v2 gnomAD v4
12g.12131859G>CCA383951304BCL2L14,LRP6c.3932C>G (p.Ala1311Gly)
c.712-6977G>C (n.712-6977G>C)
c.3526C>G
n.253C>G
c.3797C>G (p.Ala1266Gly)
c.3479C>G (p.Ala1160Gly)
n.4065C>G
 gnomAD v4
12g.12131859G=CA2016768282BCL2L14,LRP6c.3932C= (p.Ala1311=)
c.712-6977G= (n.712-6977G=)
c.3526C=
n.253C=
c.3797C= (p.Ala1266=)
c.3479C= (p.Ala1160=)
n.4065C=
12g.12131859G>TCA383951306BCL2L14,LRP6c.3932C>A (p.Ala1311Glu)
c.712-6977G>T (n.712-6977G>T)
c.3526C>A
n.253C>A
c.3797C>A (p.Ala1266Glu)
c.3479C>A (p.Ala1160Glu)
n.4065C>A
12g.12131860C>ACA383951308BCL2L14,LRP6c.3931G>T (p.Ala1311Ser)
c.712-6976C>A (n.712-6976C>A)
c.3525G>T
n.252G>T
c.3796G>T (p.Ala1266Ser)
c.3478G>T (p.Ala1160Ser)
n.4064G>T
12g.12131860C>GCA383951310BCL2L14,LRP6c.3931G>C (p.Ala1311Pro)
c.712-6976C>G (n.712-6976C>G)
c.3525G>C
n.252G>C
c.3796G>C (p.Ala1266Pro)
c.3478G>C (p.Ala1160Pro)
n.4064G>C
12g.12131860C>TCA383951312BCL2L14,LRP6c.3931G>A (p.Ala1311Thr)
c.712-6976C>T (n.712-6976C>T)
c.3525G>A
n.252G>A
c.3796G>A (p.Ala1266Thr)
c.3478G>A (p.Ala1160Thr)
n.4064G>A
12g.12131861A>CCA383951314BCL2L14,LRP6c.3930T>G (p.Asp1310Glu)
c.712-6975A>C (n.712-6975A>C)
c.3524T>G
n.251T>G
c.3795T>G (p.Asp1265Glu)
c.3477T>G (p.Asp1159Glu)
n.4063T>G
12g.12131861A>GCA478843711BCL2L14,LRP6c.3930T>C (p.Asp1310=)
c.712-6975A>G (n.712-6975A>G)
c.3524T>C
n.251T>C
c.3795T>C (p.Asp1265=)
c.3477T>C (p.Asp1159=)
n.4063T>C
12g.12131861A>TCA383951316BCL2L14,LRP6c.3930T>A (p.Asp1310Glu)
c.712-6975A>T (n.712-6975A>T)
c.3524T>A
n.251T>A
c.3795T>A (p.Asp1265Glu)
c.3477T>A (p.Asp1159Glu)
n.4063T>A
12g.12131862T>ACA383951318BCL2L14,LRP6c.3929A>T (p.Asp1310Val)
c.712-6974T>A (n.712-6974T>A)
c.3523A>T
n.250A>T
c.3794A>T (p.Asp1265Val)
c.3476A>T (p.Asp1159Val)
n.4062A>T
12g.12131862T>CCA383951321BCL2L14,LRP6c.3929A>G (p.Asp1310Gly)
c.712-6974T>C (n.712-6974T>C)
c.3523A>G
n.250A>G
c.3794A>G (p.Asp1265Gly)
c.3476A>G (p.Asp1159Gly)
n.4062A>G
 gnomAD v4
12g.12131862T>GCA383951323BCL2L14,LRP6c.3929A>C (p.Asp1310Ala)
c.712-6974T>G (n.712-6974T>G)
c.3523A>C
n.250A>C
c.3794A>C (p.Asp1265Ala)
c.3476A>C (p.Asp1159Ala)
n.4062A>C
12g.12131863C>ACA383951328BCL2L14,LRP6c.3928G>T (p.Asp1310Tyr)
c.712-6973C>A (n.712-6973C>A)
c.3522G>T
n.249G>T
c.3793G>T (p.Asp1265Tyr)
c.3475G>T (p.Asp1159Tyr)
n.4061G>T
12g.12131863C>GCA383951325BCL2L14,LRP6c.3928G>C (p.Asp1310His)
c.712-6973C>G (n.712-6973C>G)
c.3522G>C
n.249G>C
c.3793G>C (p.Asp1265His)
c.3475G>C (p.Asp1159His)
n.4061G>C
12g.12131863C>TCA383951327BCL2L14,LRP6c.3928G>A (p.Asp1310Asn)
c.712-6973C>T (n.712-6973C>T)
c.3522G>A
n.249G>A
c.3793G>A (p.Asp1265Asn)
c.3475G>A (p.Asp1159Asn)
n.4061G>A
12g.12131864T>ACA478843715BCL2L14,LRP6c.3927A>T (p.Gly1309=)
c.712-6972T>A (n.712-6972T>A)
c.3521A>T
n.248A>T
c.3792A>T (p.Gly1264=)
c.3474A>T (p.Gly1158=)
n.4060A>T
12g.12131864T>CCA478843716BCL2L14,LRP6c.3927A>G (p.Gly1309=)
c.712-6972T>C (n.712-6972T>C)
c.3521A>G
n.248A>G
c.3792A>G (p.Gly1264=)
c.3474A>G (p.Gly1158=)
n.4060A>G
12g.12131864T>GCA478843717BCL2L14,LRP6c.3927A>C (p.Gly1309=)
c.712-6972T>G (n.712-6972T>G)
c.3521A>C
n.248A>C
c.3792A>C (p.Gly1264=)
c.3474A>C (p.Gly1158=)
n.4060A>C
12g.12131865C>ACA383951330BCL2L14,LRP6c.3926G>T (p.Gly1309Val)
c.712-6971C>A (n.712-6971C>A)
c.3520G>T
n.247G>T
c.3791G>T (p.Gly1264Val)
c.3473G>T (p.Gly1158Val)
n.4059G>T
12g.12131865C=CA2016768283BCL2L14,LRP6c.3926G= (p.Gly1309=)
c.712-6971C= (n.712-6971C=)
c.3520G=
n.247G=
c.3791G= (p.Gly1264=)
c.3473G= (p.Gly1158=)
n.4059G=
12g.12131865C>GCA383951332BCL2L14,LRP6c.3926G>C (p.Gly1309Ala)
c.712-6971C>G (n.712-6971C>G)
c.3520G>C
n.247G>C
c.3791G>C (p.Gly1264Ala)
c.3473G>C (p.Gly1158Ala)
n.4059G>C
12g.12131865C>TCA383951333BCL2L14,LRP6c.3926G>A (p.Gly1309Glu)
c.712-6971C>T (n.712-6971C>T)
c.3520G>A
n.247G>A
c.3791G>A (p.Gly1264Glu)
c.3473G>A (p.Gly1158Glu)
n.4059G>A
 dbSNP gnomAD v4 COSMIC
12g.12131866C>ACA383951335BCL2L14,LRP6c.3925G>T (p.Gly1309Ter)
c.712-6970C>A (n.712-6970C>A)
c.3519G>T
n.246G>T
c.3790G>T (p.Gly1264Ter)
c.3472G>T (p.Gly1158Ter)
n.4058G>T
12g.12131866C=CA2016768284BCL2L14,LRP6c.3925G= (p.Gly1309=)
c.712-6970C= (n.712-6970C=)
c.3519G=
n.246G=
c.3790G= (p.Gly1264=)
c.3472G= (p.Gly1158=)
n.4058G=
12g.12131866C>GCA383951337BCL2L14,LRP6c.3925G>C (p.Gly1309Arg)
c.712-6970C>G (n.712-6970C>G)
c.3519G>C
n.246G>C
c.3790G>C (p.Gly1264Arg)
c.3472G>C (p.Gly1158Arg)
n.4058G>C
12g.12131866C>TCA383951339BCL2L14,LRP6c.3925G>A (p.Gly1309Arg)
c.712-6970C>T (n.712-6970C>T)
c.3519G>A
n.246G>A
c.3790G>A (p.Gly1264Arg)
c.3472G>A (p.Gly1158Arg)
n.4058G>A
 dbSNP gnomAD v4
12g.12131867A>CCA383951341BCL2L14,LRP6c.3924T>G (p.Asn1308Lys)
c.712-6969A>C (n.712-6969A>C)
c.3518T>G
n.245T>G
c.3789T>G (p.Asn1263Lys)
c.3471T>G (p.Asn1157Lys)
n.4057T>G
12g.12131867A>GCA478843720BCL2L14,LRP6c.3924T>C (p.Asn1308=)
c.712-6969A>G (n.712-6969A>G)
c.3518T>C
n.245T>C
c.3789T>C (p.Asn1263=)
c.3471T>C (p.Asn1157=)
n.4057T>C
12g.12131867A>TCA383951343BCL2L14,LRP6c.3924T>A (p.Asn1308Lys)
c.712-6969A>T (n.712-6969A>T)
c.3518T>A
n.245T>A
c.3789T>A (p.Asn1263Lys)
c.3471T>A (p.Asn1157Lys)
n.4057T>A
12g.12131868T>ACA383951345BCL2L14,LRP6c.3923A>T (p.Asn1308Ile)
c.712-6968T>A (n.712-6968T>A)
c.3517A>T
n.244A>T
c.3788A>T (p.Asn1263Ile)
c.3470A>T (p.Asn1157Ile)
n.4056A>T
12g.12131868T>CCA383951347BCL2L14,LRP6c.3923A>G (p.Asn1308Ser)
c.712-6968T>C (n.712-6968T>C)
c.3517A>G
n.244A>G
c.3788A>G (p.Asn1263Ser)
c.3470A>G (p.Asn1157Ser)
n.4056A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.12131868T>GCA383951349BCL2L14,LRP6c.3923A>C (p.Asn1308Thr)
c.712-6968T>G (n.712-6968T>G)
c.3517A>C
n.244A>C
c.3788A>C (p.Asn1263Thr)
c.3470A>C (p.Asn1157Thr)
n.4056A>C
12g.12131868T=CA2016768285BCL2L14,LRP6c.3923A= (p.Asn1308=)
c.712-6968T= (n.712-6968T=)
c.3517A=
n.244A=
c.3788A= (p.Asn1263=)
c.3470A= (p.Asn1157=)
n.4056A=
12g.12131869T>ACA383951354BCL2L14,LRP6c.3922A>T (p.Asn1308Tyr)
c.712-6967T>A (n.712-6967T>A)
c.3516A>T
n.243A>T
c.3787A>T (p.Asn1263Tyr)
c.3469A>T (p.Asn1157Tyr)
n.4055A>T
12g.12131869T>CCA383951355BCL2L14,LRP6c.3922A>G (p.Asn1308Asp)
c.712-6967T>C (n.712-6967T>C)
c.3516A>G
n.243A>G
c.3787A>G (p.Asn1263Asp)
c.3469A>G (p.Asn1157Asp)
n.4055A>G
12g.12131869T>GCA383951352BCL2L14,LRP6c.3922A>C (p.Asn1308His)
c.712-6967T>G (n.712-6967T>G)
c.3516A>C
n.243A>C
c.3787A>C (p.Asn1263His)
c.3469A>C (p.Asn1157His)
n.4055A>C
12g.12131870G>ACA478843723BCL2L14,LRP6c.3921C>T (p.Cys1307=)
c.712-6966G>A (n.712-6966G>A)
c.3515C>T
n.242C>T
c.3786C>T (p.Cys1262=)
c.3468C>T (p.Cys1156=)
n.4054C>T
12g.12131870G>CCA383951358BCL2L14,LRP6c.3921C>G (p.Cys1307Trp)
c.712-6966G>C (n.712-6966G>C)
c.3515C>G
n.242C>G
c.3786C>G (p.Cys1262Trp)
c.3468C>G (p.Cys1156Trp)
n.4054C>G
12g.12131870G>TCA383951360BCL2L14,LRP6c.3921C>A (p.Cys1307Ter)
c.712-6966G>T (n.712-6966G>T)
c.3515C>A
n.242C>A
c.3786C>A (p.Cys1262Ter)
c.3468C>A (p.Cys1156Ter)
n.4054C>A
12g.12131871C>ACA383951362BCL2L14,LRP6c.3920G>T (p.Cys1307Phe)
c.712-6965C>A (n.712-6965C>A)
c.3514G>T
n.241G>T
c.3785G>T (p.Cys1262Phe)
c.3467G>T (p.Cys1156Phe)
n.4053G>T
12g.12131871C>GCA383951364BCL2L14,LRP6c.3920G>C (p.Cys1307Ser)
c.712-6965C>G (n.712-6965C>G)
c.3514G>C
n.241G>C
c.3785G>C (p.Cys1262Ser)
c.3467G>C (p.Cys1156Ser)
n.4053G>C
12g.12131871C>TCA383951366BCL2L14,LRP6c.3920G>A (p.Cys1307Tyr)
c.712-6965C>T (n.712-6965C>T)
c.3514G>A
n.241G>A
c.3785G>A (p.Cys1262Tyr)
c.3467G>A (p.Cys1156Tyr)
n.4053G>A
12g.12131872A>CCA383951368BCL2L14,LRP6c.3919T>G (p.Cys1307Gly)
c.712-6964A>C (n.712-6964A>C)
c.3513T>G
n.240T>G
c.3784T>G (p.Cys1262Gly)
c.3466T>G (p.Cys1156Gly)
n.4052T>G
12g.12131872A>GCA383951369BCL2L14,LRP6c.3919T>C (p.Cys1307Arg)
c.712-6964A>G (n.712-6964A>G)
c.3513T>C
n.240T>C
c.3784T>C (p.Cys1262Arg)
c.3466T>C (p.Cys1156Arg)
n.4052T>C
12g.12131872A>TCA383951371BCL2L14,LRP6c.3919T>A (p.Cys1307Ser)
c.712-6964A>T (n.712-6964A>T)
c.3513T>A
n.240T>A
c.3784T>A (p.Cys1262Ser)
c.3466T>A (p.Cys1156Ser)
n.4052T>A
12g.12131873T>ACA478843729BCL2L14,LRP6c.3918A>T (p.Arg1306=)
c.712-6963T>A (n.712-6963T>A)
c.3512A>T
n.239A>T
c.3783A>T (p.Arg1261=)
c.3465A>T (p.Arg1155=)
n.4051A>T
12g.12131873T>CCA478843728BCL2L14,LRP6c.3918A>G (p.Arg1306=)
c.712-6963T>C (n.712-6963T>C)
c.3512A>G
n.239A>G
c.3783A>G (p.Arg1261=)
c.3465A>G (p.Arg1155=)
n.4051A>G
12g.12131873T>GCA478843727BCL2L14,LRP6c.3918A>C (p.Arg1306=)
c.712-6963T>G (n.712-6963T>G)
c.3512A>C
n.239A>C
c.3783A>C (p.Arg1261=)
c.3465A>C (p.Arg1155=)
n.4051A>C
12g.12131874C>ACA383951372BCL2L14,LRP6c.3917G>T (p.Arg1306Leu)
c.712-6962C>A (n.712-6962C>A)
c.3511G>T
n.238G>T
c.3782G>T (p.Arg1261Leu)
c.3464G>T (p.Arg1155Leu)
n.4050G>T
12g.12131874C=CA2016768286BCL2L14,LRP6c.3917G= (p.Arg1306=)
c.712-6962C= (n.712-6962C=)
c.3511G=
n.238G=
c.3782G= (p.Arg1261=)
c.3464G= (p.Arg1155=)
n.4050G=
12g.12131874C>GCA383951373BCL2L14,LRP6c.3917G>C (p.Arg1306Pro)
c.712-6962C>G (n.712-6962C>G)
c.3511G>C
n.238G>C
c.3782G>C (p.Arg1261Pro)
c.3464G>C (p.Arg1155Pro)
n.4050G>C
12g.12131874C>TCA6455091BCL2L14,LRP6c.3917G>A (p.Arg1306Gln)
c.712-6962C>T (n.712-6962C>T)
c.3511G>A
n.238G>A
c.3782G>A (p.Arg1261Gln)
c.3464G>A (p.Arg1155Gln)
n.4050G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.12131875G>ACA383951376BCL2L14,LRP6c.3916C>T (p.Arg1306Ter)
c.712-6961G>A (n.712-6961G>A)
c.3510C>T
n.237C>T
c.3781C>T (p.Arg1261Ter)
c.3463C>T (p.Arg1155Ter)
n.4049C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.12131875G>CCA383951378BCL2L14,LRP6c.3916C>G (p.Arg1306Gly)
c.712-6961G>C (n.712-6961G>C)
c.3510C>G
n.237C>G
c.3781C>G (p.Arg1261Gly)
c.3463C>G (p.Arg1155Gly)
n.4049C>G
12g.12131875G=CA2016768287BCL2L14,LRP6c.3916C= (p.Arg1306=)
c.712-6961G= (n.712-6961G=)
c.3510C=
n.237C=
c.3781C= (p.Arg1261=)
c.3463C= (p.Arg1155=)
n.4049C=
12g.12131875G>TCA478843732BCL2L14,LRP6c.3916C>A (p.Arg1306=)
c.712-6961G>T (n.712-6961G>T)
c.3510C>A
n.237C>A
c.3781C>A (p.Arg1261=)
c.3463C>A (p.Arg1155=)
n.4049C>A
 gnomAD v4
12g.12131876G>ACA478843733BCL2L14,LRP6c.3915C>T (p.Leu1305=)
c.712-6960G>A (n.712-6960G>A)
c.3509C>T
n.236C>T
c.3780C>T (p.Leu1260=)
c.3462C>T (p.Leu1154=)
n.4048C>T
12g.12131876G>CCA478843734BCL2L14,LRP6c.3915C>G (p.Leu1305=)
c.712-6960G>C (n.712-6960G>C)
c.3509C>G
n.236C>G
c.3780C>G (p.Leu1260=)
c.3462C>G (p.Leu1154=)
n.4048C>G
12g.12131876G>TCA478843735BCL2L14,LRP6c.3915C>A (p.Leu1305=)
c.712-6960G>T (n.712-6960G>T)
c.3509C>A
n.236C>A
c.3780C>A (p.Leu1260=)
c.3462C>A (p.Leu1154=)
n.4048C>A
12g.12131877A>CCA383951384BCL2L14,LRP6c.3914T>G (p.Leu1305Arg)
c.712-6959A>C (n.712-6959A>C)
c.3508T>G
n.235T>G
c.3779T>G (p.Leu1260Arg)
c.3461T>G (p.Leu1154Arg)
n.4047T>G
12g.12131877A>GCA383951382BCL2L14,LRP6c.3914T>C (p.Leu1305Pro)
c.712-6959A>G (n.712-6959A>G)
c.3508T>C
n.235T>C
c.3779T>C (p.Leu1260Pro)
c.3461T>C (p.Leu1154Pro)
n.4047T>C
12g.12131877A>TCA383951380BCL2L14,LRP6c.3914T>A (p.Leu1305His)
c.712-6959A>T (n.712-6959A>T)
c.3508T>A
n.235T>A
c.3779T>A (p.Leu1260His)
c.3461T>A (p.Leu1154His)
n.4047T>A
 dbSNP gnomAD v4
12g.12131878G>ACA383951386BCL2L14,LRP6c.3913C>T (p.Leu1305Phe)
c.712-6958G>A (n.712-6958G>A)
c.3507C>T
n.234C>T
c.3778C>T (p.Leu1260Phe)
c.3460C>T (p.Leu1154Phe)
n.4046C>T
 dbSNP gnomAD v3 gnomAD v4
12g.12131878G>CCA383951388BCL2L14,LRP6c.3913C>G (p.Leu1305Val)
c.712-6958G>C (n.712-6958G>C)
c.3507C>G
n.234C>G
c.3778C>G (p.Leu1260Val)
c.3460C>G (p.Leu1154Val)
n.4046C>G
 dbSNP gnomAD v2 gnomAD v4
12g.12131878G=CA2016768288BCL2L14,LRP6c.3913C= (p.Leu1305=)
c.712-6958G= (n.712-6958G=)
c.3507C=
n.234C=
c.3778C= (p.Leu1260=)
c.3460C= (p.Leu1154=)
n.4046C=
12g.12131878G>TCA383951390BCL2L14,LRP6c.3913C>A (p.Leu1305Ile)
c.712-6958G>T (n.712-6958G>T)
c.3507C>A
n.234C>A
c.3778C>A (p.Leu1260Ile)
c.3460C>A (p.Leu1154Ile)
n.4046C>A
12g.12131879G>ACA478843737BCL2L14,LRP6c.3912C>T (p.Ala1304=)
c.712-6957G>A (n.712-6957G>A)
c.3506C>T
n.233C>T
c.3777C>T (p.Ala1259=)
c.3459C>T (p.Ala1153=)
n.4045C>T
12g.12131879G>CCA478843739BCL2L14,LRP6c.3912C>G (p.Ala1304=)
c.712-6957G>C (n.712-6957G>C)
c.3506C>G
n.233C>G
c.3777C>G (p.Ala1259=)
c.3459C>G (p.Ala1153=)
n.4045C>G
12g.12131879G>TCA478843738BCL2L14,LRP6c.3912C>A (p.Ala1304=)
c.712-6957G>T (n.712-6957G>T)
c.3506C>A
n.233C>A
c.3777C>A (p.Ala1259=)
c.3459C>A (p.Ala1153=)
n.4045C>A
12g.12131880G>ACA383951392BCL2L14,LRP6c.3911C>T (p.Ala1304Val)
c.712-6956G>A (n.712-6956G>A)
c.3505C>T
n.232C>T
c.3776C>T (p.Ala1259Val)
c.3458C>T (p.Ala1153Val)
n.4044C>T
12g.12131880G>CCA383951393BCL2L14,LRP6c.3911C>G (p.Ala1304Gly)
c.712-6956G>C (n.712-6956G>C)
c.3505C>G
n.232C>G
c.3776C>G (p.Ala1259Gly)
c.3458C>G (p.Ala1153Gly)
n.4044C>G
12g.12131880G=CA2016768289BCL2L14,LRP6c.3911C= (p.Ala1304=)
c.712-6956G= (n.712-6956G=)
c.3505C=
n.232C=
c.3776C= (p.Ala1259=)
c.3458C= (p.Ala1153=)
n.4044C=
12g.12131880G>TCA383951396BCL2L14,LRP6c.3911C>A (p.Ala1304Asp)
c.712-6956G>T (n.712-6956G>T)
c.3505C>A
n.232C>A
c.3776C>A (p.Ala1259Asp)
c.3458C>A (p.Ala1153Asp)
n.4044C>A
 dbSNP gnomAD v3 gnomAD v4
12g.12131881C>ACA383951397BCL2L14,LRP6c.3910G>T (p.Ala1304Ser)
c.712-6955C>A (n.712-6955C>A)
c.3504G>T
n.231G>T
c.3775G>T (p.Ala1259Ser)
c.3457G>T (p.Ala1153Ser)
n.4043G>T
12g.12131881C=CA2016768290BCL2L14,LRP6c.3910G= (p.Ala1304=)
c.712-6955C= (n.712-6955C=)
c.3504G=
n.231G=
c.3775G= (p.Ala1259=)
c.3457G= (p.Ala1153=)
n.4043G=
12g.12131881C>GCA383951399BCL2L14,LRP6c.3910G>C (p.Ala1304Pro)
c.712-6955C>G (n.712-6955C>G)
c.3504G>C
n.231G>C
c.3775G>C (p.Ala1259Pro)
c.3457G>C (p.Ala1153Pro)
n.4043G>C
12g.12131881C>TCA6455092BCL2L14,LRP6c.3910G>A (p.Ala1304Thr)
c.712-6955C>T (n.712-6955C>T)
c.3504G>A
n.231G>A
c.3775G>A (p.Ala1259Thr)
c.3457G>A (p.Ala1153Thr)
n.4043G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.12131882A=CA2016768291BCL2L14,LRP6c.3909T= (p.Gly1303=)
c.712-6954A= (n.712-6954A=)
c.3503T=
n.230T=
c.3774T= (p.Gly1258=)
c.3456T= (p.Gly1152=)
n.4042T=
12g.12131882A>CCA478843742BCL2L14,LRP6c.3909T>G (p.Gly1303=)
c.712-6954A>C (n.712-6954A>C)
c.3503T>G
n.230T>G
c.3774T>G (p.Gly1258=)
c.3456T>G (p.Gly1152=)
n.4042T>G
12g.12131882A>GCA478843743BCL2L14,LRP6c.3909T>C (p.Gly1303=)
c.712-6954A>G (n.712-6954A>G)
c.3503T>C
n.230T>C
c.3774T>C (p.Gly1258=)
c.3456T>C (p.Gly1152=)
n.4042T>C
 dbSNP gnomAD v2 gnomAD v4
12g.12131882A>TCA478843745BCL2L14,LRP6c.3909T>A (p.Gly1303=)
c.712-6954A>T (n.712-6954A>T)
c.3503T>A
n.230T>A
c.3774T>A (p.Gly1258=)
c.3456T>A (p.Gly1152=)
n.4042T>A
12g.12131883C>ACA383951402BCL2L14,LRP6c.3908G>T (p.Gly1303Val)
c.712-6953C>A (n.712-6953C>A)
c.3502G>T
n.229G>T
c.3773G>T (p.Gly1258Val)
c.3455G>T (p.Gly1152Val)
n.4041G>T
12g.12131883C>GCA383951405BCL2L14,LRP6c.3908G>C (p.Gly1303Ala)
c.712-6953C>G (n.712-6953C>G)
c.3502G>C
n.229G>C
c.3773G>C (p.Gly1258Ala)
c.3455G>C (p.Gly1152Ala)
n.4041G>C
12g.12131883C>TCA383951407BCL2L14,LRP6c.3908G>A (p.Gly1303Asp)
c.712-6953C>T (n.712-6953C>T)
c.3502G>A
n.229G>A
c.3773G>A (p.Gly1258Asp)
c.3455G>A (p.Gly1152Asp)
n.4041G>A
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

Number of alleles fetched