Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.12164303_12164304delinsGTCA2016783017BCL2L14,LRP6c.2021_2022delinsAC (p.Asn674=)
c.*25-23002_*25-23001delinsGT (n.*25-23002_*25-23001delinsGT)
c.1615_1616delinsAC
c.1568_1569delinsAC (p.Asn523=)
n.2154_2155delinsAC
12g.12164304T>ACA383946335BCL2L14,LRP6c.2021A>T (p.Asn674Ile)
c.*25-23001T>A (n.*25-23001T>A)
c.1615A>T
c.1568A>T (p.Asn523Ile)
n.2154A>T
12g.12164304T>CCA6455556BCL2L14,LRP6c.2021A>G (p.Asn674Ser)
c.*25-23001T>C (n.*25-23001T>C)
c.1615A>G
c.1568A>G (p.Asn523Ser)
n.2154A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.12164304T>GCA383946336BCL2L14,LRP6c.2021A>C (p.Asn674Thr)
c.*25-23001T>G (n.*25-23001T>G)
c.1615A>C
c.1568A>C (p.Asn523Thr)
n.2154A>C
12g.12164304T=CA2016783018BCL2L14,LRP6c.2021A= (p.Asn674=)
c.*25-23001T= (n.*25-23001T=)
c.1615A=
c.1568A= (p.Asn523=)
n.2154A=
12g.12164305delCA944801804BCL2L14,LRP6c.2021del (p.Asn674ThrfsTer18)
c.*25-23000del (n.*25-23000del)
c.1615del
c.1568del (p.Asn523ThrfsTer18)
n.2154del
 dbSNP gnomAD v3 gnomAD v4
12g.12164305T>ACA383946339BCL2L14,LRP6c.2020A>T (p.Asn674Tyr)
c.*25-23000T>A (n.*25-23000T>A)
c.1614A>T
c.1567A>T (p.Asn523Tyr)
n.2153A>T
12g.12164305T>CCA383946337BCL2L14,LRP6c.2020A>G (p.Asn674Asp)
c.*25-23000T>C (n.*25-23000T>C)
c.1614A>G
c.1567A>G (p.Asn523Asp)
n.2153A>G
12g.12164305T>GCA383946338BCL2L14,LRP6c.2020A>C (p.Asn674His)
c.*25-23000T>G (n.*25-23000T>G)
c.1614A>C
c.1567A>C (p.Asn523His)
n.2153A>C
12g.12164306G>ACA478660507BCL2L14,LRP6c.2019C>T (p.Asp673=)
c.*25-22999G>A (n.*25-22999G>A)
c.1613C>T
c.1566C>T (p.Asp522=)
n.2152C>T
12g.12164306G>CCA383946340BCL2L14,LRP6c.2019C>G (p.Asp673Glu)
c.*25-22999G>C (n.*25-22999G>C)
c.1613C>G
c.1566C>G (p.Asp522Glu)
n.2152C>G
12g.12164306G>TCA383946341BCL2L14,LRP6c.2019C>A (p.Asp673Glu)
c.*25-22999G>T (n.*25-22999G>T)
c.1613C>A
c.1566C>A (p.Asp522Glu)
n.2152C>A
12g.12164307T>ACA383946342BCL2L14,LRP6c.2018A>T (p.Asp673Val)
c.*25-22998T>A (n.*25-22998T>A)
c.1612A>T
c.1565A>T (p.Asp522Val)
n.2151A>T
 dbSNP
12g.12164307T>CCA383946343BCL2L14,LRP6c.2018A>G (p.Asp673Gly)
c.*25-22998T>C (n.*25-22998T>C)
c.1612A>G
c.1565A>G (p.Asp522Gly)
n.2151A>G
12g.12164307T>GCA383946344BCL2L14,LRP6c.2018A>C (p.Asp673Ala)
c.*25-22998T>G (n.*25-22998T>G)
c.1612A>C
c.1565A>C (p.Asp522Ala)
n.2151A>C
12g.12164307T=CA2016783019BCL2L14,LRP6c.2018A= (p.Asp673=)
c.*25-22998T= (n.*25-22998T=)
c.1612A=
c.1565A= (p.Asp522=)
n.2151A=
12g.12164308C>ACA383946345BCL2L14,LRP6c.2017G>T (p.Asp673Tyr)
c.*25-22997C>A (n.*25-22997C>A)
c.1611G>T
c.1564G>T (p.Asp522Tyr)
n.2150G>T
12g.12164308C=CA2016783020BCL2L14,LRP6c.2017G= (p.Asp673=)
c.*25-22997C= (n.*25-22997C=)
c.1611G=
c.1564G= (p.Asp522=)
n.2150G=
12g.12164308C>GCA383946346BCL2L14,LRP6c.2017G>C (p.Asp673His)
c.*25-22997C>G (n.*25-22997C>G)
c.1611G>C
c.1564G>C (p.Asp522His)
n.2150G>C
12g.12164308C>TCA383946347BCL2L14,LRP6c.2017G>A (p.Asp673Asn)
c.*25-22997C>T (n.*25-22997C>T)
c.1611G>A
c.1564G>A (p.Asp522Asn)
n.2150G>A
 dbSNP
12g.12164309T>ACA478660509BCL2L14,LRP6c.2016A>T (p.Thr672=)
c.*25-22996T>A (n.*25-22996T>A)
c.1610A>T
c.1563A>T (p.Thr521=)
n.2149A>T
12g.12164309T>CCA478660508BCL2L14,LRP6c.2016A>G (p.Thr672=)
c.*25-22996T>C (n.*25-22996T>C)
c.1610A>G
c.1563A>G (p.Thr521=)
n.2149A>G
 gnomAD v4
12g.12164309T>GCA478660510BCL2L14,LRP6c.2016A>C (p.Thr672=)
c.*25-22996T>G (n.*25-22996T>G)
c.1610A>C
c.1563A>C (p.Thr521=)
n.2149A>C
12g.12164310G>ACA383946348BCL2L14,LRP6c.2015C>T (p.Thr672Ile)
c.*25-22995G>A (n.*25-22995G>A)
c.1609C>T
c.1562C>T (p.Thr521Ile)
n.2148C>T
 dbSNP gnomAD v4 COSMIC
12g.12164310G>CCA383946349BCL2L14,LRP6c.2015C>G (p.Thr672Arg)
c.*25-22995G>C (n.*25-22995G>C)
c.1609C>G
c.1562C>G (p.Thr521Arg)
n.2148C>G
12g.12164310G=CA2016783021BCL2L14,LRP6c.2015C= (p.Thr672=)
c.*25-22995G= (n.*25-22995G=)
c.1609C=
c.1562C= (p.Thr521=)
n.2148C=
12g.12164310G>TCA383946350BCL2L14,LRP6c.2015C>A (p.Thr672Lys)
c.*25-22995G>T (n.*25-22995G>T)
c.1609C>A
c.1562C>A (p.Thr521Lys)
n.2148C>A
12g.12164311T>ACA383946352BCL2L14,LRP6c.2014A>T (p.Thr672Ser)
c.*25-22994T>A (n.*25-22994T>A)
c.1608A>T
c.1561A>T (p.Thr521Ser)
n.2147A>T
12g.12164311T>CCA383946353BCL2L14,LRP6c.2014A>G (p.Thr672Ala)
c.*25-22994T>C (n.*25-22994T>C)
c.1608A>G
c.1561A>G (p.Thr521Ala)
n.2147A>G
12g.12164311T>GCA383946351BCL2L14,LRP6c.2014A>C (p.Thr672Pro)
c.*25-22994T>G (n.*25-22994T>G)
c.1608A>C
c.1561A>C (p.Thr521Pro)
n.2147A>C
12g.12164312C>ACA478660511BCL2L14,LRP6c.2013G>T (p.Val671=)
c.*25-22993C>A (n.*25-22993C>A)
c.1607G>T
c.1560G>T (p.Val520=)
n.2146G>T
12g.12164312C>GCA478660512BCL2L14,LRP6c.2013G>C (p.Val671=)
c.*25-22993C>G (n.*25-22993C>G)
c.1607G>C
c.1560G>C (p.Val520=)
n.2146G>C
12g.12164312C>TCA478660513BCL2L14,LRP6c.2013G>A (p.Val671=)
c.*25-22993C>T (n.*25-22993C>T)
c.1607G>A
c.1560G>A (p.Val520=)
n.2146G>A
12g.12164313A=CA2016783022BCL2L14,LRP6c.2012T= (p.Val671=)
c.*25-22992A= (n.*25-22992A=)
c.1606T=
c.1559T= (p.Val520=)
n.2145T=
12g.12164313A>CCA383946354BCL2L14,LRP6c.2012T>G (p.Val671Gly)
c.*25-22992A>C (n.*25-22992A>C)
c.1606T>G
c.1559T>G (p.Val520Gly)
n.2145T>G
12g.12164313A>GCA383946355BCL2L14,LRP6c.2012T>C (p.Val671Ala)
c.*25-22992A>G (n.*25-22992A>G)
c.1606T>C
c.1559T>C (p.Val520Ala)
n.2145T>C
 dbSNP gnomAD v4
12g.12164313A>TCA383946356BCL2L14,LRP6c.2012T>A (p.Val671Glu)
c.*25-22992A>T (n.*25-22992A>T)
c.1606T>A
c.1559T>A (p.Val520Glu)
n.2145T>A
12g.12164314C>ACA383946357BCL2L14,LRP6c.2011G>T (p.Val671Leu)
c.*25-22991C>A (n.*25-22991C>A)
c.1605G>T
c.1558G>T (p.Val520Leu)
n.2144G>T
12g.12164314C=CA2016783023BCL2L14,LRP6c.2011G= (p.Val671=)
c.*25-22991C= (n.*25-22991C=)
c.1605G=
c.1558G= (p.Val520=)
n.2144G=
12g.12164314C>GCA383946358BCL2L14,LRP6c.2011G>C (p.Val671Leu)
c.*25-22991C>G (n.*25-22991C>G)
c.1605G>C
c.1558G>C (p.Val520Leu)
n.2144G>C
12g.12164314C>TCA383946359BCL2L14,LRP6c.2011G>A (p.Val671Met)
c.*25-22991C>T (n.*25-22991C>T)
c.1605G>A
c.1558G>A (p.Val520Met)
n.2144G>A
 dbSNP
12g.12164315A=CA2016783024BCL2L14,LRP6c.2010T= (p.Asp670=)
c.*25-22990A= (n.*25-22990A=)
c.1604T=
c.1557T= (p.Asp519=)
n.2143T=
12g.12164315A>CCA383946360BCL2L14,LRP6c.2010T>G (p.Asp670Glu)
c.*25-22990A>C (n.*25-22990A>C)
c.1604T>G
c.1557T>G (p.Asp519Glu)
n.2143T>G
12g.12164315A>GCA478660514BCL2L14,LRP6c.2010T>C (p.Asp670=)
c.*25-22990A>G (n.*25-22990A>G)
c.1604T>C
c.1557T>C (p.Asp519=)
n.2143T>C
12g.12164315A>TCA6455557BCL2L14,LRP6c.2010T>A (p.Asp670Glu)
c.*25-22990A>T (n.*25-22990A>T)
c.1604T>A
c.1557T>A (p.Asp519Glu)
n.2143T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.12164316T>ACA383946361BCL2L14,LRP6c.2009A>T (p.Asp670Val)
c.*25-22989T>A (n.*25-22989T>A)
c.1603A>T
c.1556A>T (p.Asp519Val)
n.2142A>T
12g.12164316T>CCA6455558BCL2L14,LRP6c.2009A>G (p.Asp670Gly)
c.*25-22989T>C (n.*25-22989T>C)
c.1603A>G
c.1556A>G (p.Asp519Gly)
n.2142A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.12164316T>GCA383946362BCL2L14,LRP6c.2009A>C (p.Asp670Ala)
c.*25-22989T>G (n.*25-22989T>G)
c.1603A>C
c.1556A>C (p.Asp519Ala)
n.2142A>C
12g.12164316T=CA2016783025BCL2L14,LRP6c.2009A= (p.Asp670=)
c.*25-22989T= (n.*25-22989T=)
c.1603A=
c.1556A= (p.Asp519=)
n.2142A=
12g.12164317C>ACA383946363BCL2L14,LRP6c.2008G>T (p.Asp670Tyr)
c.*25-22988C>A (n.*25-22988C>A)
c.1602G>T
c.1555G>T (p.Asp519Tyr)
n.2141G>T
12g.12164317C>GCA383946364BCL2L14,LRP6c.2008G>C (p.Asp670His)
c.*25-22988C>G (n.*25-22988C>G)
c.1602G>C
c.1555G>C (p.Asp519His)
n.2141G>C
12g.12164317C>TCA383946365BCL2L14,LRP6c.2008G>A (p.Asp670Asn)
c.*25-22988C>T (n.*25-22988C>T)
c.1602G>A
c.1555G>A (p.Asp519Asn)
n.2141G>A
12g.12164318A>CCA383946366BCL2L14,LRP6c.2007T>G (p.Phe669Leu)
c.*25-22987A>C (n.*25-22987A>C)
c.1601T>G
c.1554T>G (p.Phe518Leu)
n.2140T>G
 gnomAD v4
12g.12164318A>GCA478660515BCL2L14,LRP6c.2007T>C (p.Phe669=)
c.*25-22987A>G (n.*25-22987A>G)
c.1601T>C
c.1554T>C (p.Phe518=)
n.2140T>C
12g.12164318A>TCA383946367BCL2L14,LRP6c.2007T>A (p.Phe669Leu)
c.*25-22987A>T (n.*25-22987A>T)
c.1601T>A
c.1554T>A (p.Phe518Leu)
n.2140T>A
12g.12164319A>CCA383946368BCL2L14,LRP6c.2006T>G (p.Phe669Cys)
c.*25-22986A>C (n.*25-22986A>C)
c.1600T>G
c.1553T>G (p.Phe518Cys)
n.2139T>G
12g.12164319A>GCA383946369BCL2L14,LRP6c.2006T>C (p.Phe669Ser)
c.*25-22986A>G (n.*25-22986A>G)
c.1600T>C
c.1553T>C (p.Phe518Ser)
n.2139T>C
12g.12164319A>TCA383946370BCL2L14,LRP6c.2006T>A (p.Phe669Tyr)
c.*25-22986A>T (n.*25-22986A>T)
c.1600T>A
c.1553T>A (p.Phe518Tyr)
n.2139T>A
12g.12164320A=CA2016783026BCL2L14,LRP6c.2005T= (p.Phe669=)
c.*25-22985A= (n.*25-22985A=)
c.1599T=
c.1552T= (p.Phe518=)
n.2138T=
12g.12164320A>CCA383946371BCL2L14,LRP6c.2005T>G (p.Phe669Val)
c.*25-22985A>C (n.*25-22985A>C)
c.1599T>G
c.1552T>G (p.Phe518Val)
n.2138T>G
12g.12164320A>GCA383946372BCL2L14,LRP6c.2005T>C (p.Phe669Leu)
c.*25-22985A>G (n.*25-22985A>G)
c.1599T>C
c.1552T>C (p.Phe518Leu)
n.2138T>C
 dbSNP gnomAD v3 gnomAD v4
12g.12164320A>TCA383946373BCL2L14,LRP6c.2005T>A (p.Phe669Ile)
c.*25-22985A>T (n.*25-22985A>T)
c.1599T>A
c.1552T>A (p.Phe518Ile)
n.2138T>A
12g.12164321A>CCA383946374BCL2L14,LRP6c.2004T>G (p.Asp668Glu)
c.*25-22984A>C (n.*25-22984A>C)
c.1598T>G
c.1551T>G (p.Asp517Glu)
n.2137T>G
12g.12164321A>GCA478660516BCL2L14,LRP6c.2004T>C (p.Asp668=)
c.*25-22984A>G (n.*25-22984A>G)
c.1598T>C
c.1551T>C (p.Asp517=)
n.2137T>C
12g.12164321A>TCA383946375BCL2L14,LRP6c.2004T>A (p.Asp668Glu)
c.*25-22984A>T (n.*25-22984A>T)
c.1598T>A
c.1551T>A (p.Asp517Glu)
n.2137T>A
12g.12164322T>ACA383946376BCL2L14,LRP6c.2003A>T (p.Asp668Val)
c.*25-22983T>A (n.*25-22983T>A)
c.1597A>T
c.1550A>T (p.Asp517Val)
n.2136A>T
12g.12164322T>CCA383946377BCL2L14,LRP6c.2003A>G (p.Asp668Gly)
c.*25-22983T>C (n.*25-22983T>C)
c.1597A>G
c.1550A>G (p.Asp517Gly)
n.2136A>G
 COSMIC
12g.12164322T>GCA383946378BCL2L14,LRP6c.2003A>C (p.Asp668Ala)
c.*25-22983T>G (n.*25-22983T>G)
c.1597A>C
c.1550A>C (p.Asp517Ala)
n.2136A>C
12g.12164323C>ACA383946379BCL2L14,LRP6c.2002G>T (p.Asp668Tyr)
c.*25-22982C>A (n.*25-22982C>A)
c.1596G>T
c.1549G>T (p.Asp517Tyr)
n.2135G>T
12g.12164323C>GCA383946380BCL2L14,LRP6c.2002G>C (p.Asp668His)
c.*25-22982C>G (n.*25-22982C>G)
c.1596G>C
c.1549G>C (p.Asp517His)
n.2135G>C
12g.12164323C>TCA383946381BCL2L14,LRP6c.2002G>A (p.Asp668Asn)
c.*25-22982C>T (n.*25-22982C>T)
c.1596G>A
c.1549G>A (p.Asp517Asn)
n.2135G>A
 gnomAD v4
12g.12164324C>ACA383946383BCL2L14,LRP6c.2001G>T (p.Leu667Phe)
c.*25-22981C>A (n.*25-22981C>A)
c.1595G>T
c.1548G>T (p.Leu516Phe)
n.2134G>T
12g.12164324C=CA2016783027BCL2L14,LRP6c.2001G= (p.Leu667=)
c.*25-22981C= (n.*25-22981C=)
c.1595G=
c.1548G= (p.Leu516=)
n.2134G=
12g.12164324C>GCA383946382BCL2L14,LRP6c.2001G>C (p.Leu667Phe)
c.*25-22981C>G (n.*25-22981C>G)
c.1595G>C
c.1548G>C (p.Leu516Phe)
n.2134G>C
12g.12164324C>TCA478660517BCL2L14,LRP6c.2001G>A (p.Leu667=)
c.*25-22981C>T (n.*25-22981C>T)
c.1595G>A
c.1548G>A (p.Leu516=)
n.2134G>A
 dbSNP gnomAD v2 gnomAD v4
12g.12164325A>CCA383946384BCL2L14,LRP6c.2000T>G (p.Leu667Trp)
c.*25-22980A>C (n.*25-22980A>C)
c.1594T>G
c.1547T>G (p.Leu516Trp)
n.2133T>G
12g.12164325A>GCA383946386BCL2L14,LRP6c.2000T>C (p.Leu667Ser)
c.*25-22980A>G (n.*25-22980A>G)
c.1594T>C
c.1547T>C (p.Leu516Ser)
n.2133T>C
 gnomAD v4
12g.12164325A>TCA383946385BCL2L14,LRP6c.2000T>A (p.Leu667Ter)
c.*25-22980A>T (n.*25-22980A>T)
c.1594T>A
c.1547T>A (p.Leu516Ter)
n.2133T>A
12g.12164326A>CCA383946387BCL2L14,LRP6c.1999T>G (p.Leu667Val)
c.*25-22979A>C (n.*25-22979A>C)
c.1593T>G
c.1546T>G (p.Leu516Val)
n.2132T>G
12g.12164326A>GCA478660518BCL2L14,LRP6c.1999T>C (p.Leu667=)
c.*25-22979A>G (n.*25-22979A>G)
c.1593T>C
c.1546T>C (p.Leu516=)
n.2132T>C
 gnomAD v3 gnomAD v4
12g.12164326A>TCA383946388BCL2L14,LRP6c.1999T>A (p.Leu667Met)
c.*25-22979A>T (n.*25-22979A>T)
c.1593T>A
c.1546T>A (p.Leu516Met)
n.2132T>A
12g.12164327A>CCA478660519BCL2L14,LRP6c.1998T>G (p.Ala666=)
c.*25-22978A>C (n.*25-22978A>C)
c.1592T>G
c.1545T>G (p.Ala515=)
n.2131T>G
12g.12164327A>GCA478660521BCL2L14,LRP6c.1998T>C (p.Ala666=)
c.*25-22978A>G (n.*25-22978A>G)
c.1592T>C
c.1545T>C (p.Ala515=)
n.2131T>C
12g.12164327A>TCA478660520BCL2L14,LRP6c.1998T>A (p.Ala666=)
c.*25-22978A>T (n.*25-22978A>T)
c.1592T>A
c.1545T>A (p.Ala515=)
n.2131T>A
12g.12164327_12164328insCACACCCAACCA2794576580BCL2L14,LRP6c.1997_1998insGTTGGGTGTG (p.Asp668GlyfsTer6)
c.*25-22978_*25-22977insCACACCCAAC (n.*25-22978_*25-22977insCACACCCAAC)
c.1591_1592insGTTGGGTGTG
c.1544_1545insGTTGGGTGTG (p.Asp517GlyfsTer6)
n.2130_2131insGTTGGGTGTG
12g.12164328G>ACA383946389BCL2L14,LRP6c.1997C>T (p.Ala666Val)
c.*25-22977G>A (n.*25-22977G>A)
c.1591C>T
c.1544C>T (p.Ala515Val)
n.2130C>T
12g.12164328G>CCA383946390BCL2L14,LRP6c.1997C>G (p.Ala666Gly)
c.*25-22977G>C (n.*25-22977G>C)
c.1591C>G
c.1544C>G (p.Ala515Gly)
n.2130C>G
12g.12164328G>TCA383946391BCL2L14,LRP6c.1997C>A (p.Ala666Asp)
c.*25-22977G>T (n.*25-22977G>T)
c.1591C>A
c.1544C>A (p.Ala515Asp)
n.2130C>A
12g.12164329C>ACA383946394BCL2L14,LRP6c.1996G>T (p.Ala666Ser)
c.*25-22976C>A (n.*25-22976C>A)
c.1590G>T
c.1543G>T (p.Ala515Ser)
n.2129G>T
12g.12164329C>GCA383946393BCL2L14,LRP6c.1996G>C (p.Ala666Pro)
c.*25-22976C>G (n.*25-22976C>G)
c.1590G>C
c.1543G>C (p.Ala515Pro)
n.2129G>C
12g.12164329C>TCA383946392BCL2L14,LRP6c.1996G>A (p.Ala666Thr)
c.*25-22976C>T (n.*25-22976C>T)
c.1590G>A
c.1543G>A (p.Ala515Thr)
n.2129G>A
12g.12164330A>CCA478660522BCL2L14,LRP6c.1995T>G (p.Ser665=)
c.*25-22975A>C (n.*25-22975A>C)
c.1589T>G
c.1542T>G (p.Ser514=)
n.2128T>G
12g.12164330A>GCA478660523BCL2L14,LRP6c.1995T>C (p.Ser665=)
c.*25-22975A>G (n.*25-22975A>G)
c.1589T>C
c.1542T>C (p.Ser514=)
n.2128T>C
12g.12164330A>TCA478660524BCL2L14,LRP6c.1995T>A (p.Ser665=)
c.*25-22975A>T (n.*25-22975A>T)
c.1589T>A
c.1542T>A (p.Ser514=)
n.2128T>A
12g.12164331G>ACA383946395BCL2L14,LRP6c.1994C>T (p.Ser665Phe)
c.*25-22974G>A (n.*25-22974G>A)
c.1588C>T
c.1541C>T (p.Ser514Phe)
n.2127C>T
 dbSNP
12g.12164331G>CCA383946396BCL2L14,LRP6c.1994C>G (p.Ser665Cys)
c.*25-22974G>C (n.*25-22974G>C)
c.1588C>G
c.1541C>G (p.Ser514Cys)
n.2127C>G
12g.12164331G=CA2016783028BCL2L14,LRP6c.1994C= (p.Ser665=)
c.*25-22974G= (n.*25-22974G=)
c.1588C=
c.1541C= (p.Ser514=)
n.2127C=
12g.12164331G>TCA383946397BCL2L14,LRP6c.1994C>A (p.Ser665Tyr)
c.*25-22974G>T (n.*25-22974G>T)
c.1588C>A
c.1541C>A (p.Ser514Tyr)
n.2127C>A
12g.12164332A=CA2016783029BCL2L14,LRP6c.1993T= (p.Ser665=)
c.*25-22973A= (n.*25-22973A=)
c.1587T=
c.1540T= (p.Ser514=)
n.2126T=
12g.12164332A>CCA383946398BCL2L14,LRP6c.1993T>G (p.Ser665Ala)
c.*25-22973A>C (n.*25-22973A>C)
c.1587T>G
c.1540T>G (p.Ser514Ala)
n.2126T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.12164332A>GCA383946399BCL2L14,LRP6c.1993T>C (p.Ser665Pro)
c.*25-22973A>G (n.*25-22973A>G)
c.1587T>C
c.1540T>C (p.Ser514Pro)
n.2126T>C
12g.12164332A>TCA383946400BCL2L14,LRP6c.1993T>A (p.Ser665Thr)
c.*25-22973A>T (n.*25-22973A>T)
c.1587T>A
c.1540T>A (p.Ser514Thr)
n.2126T>A
12g.12164333A>CCA478660525BCL2L14,LRP6c.1992T>G (p.Ala664=)
c.*25-22972A>C (n.*25-22972A>C)
c.1586T>G
c.1539T>G (p.Ala513=)
n.2125T>G
12g.12164333A>GCA478660526BCL2L14,LRP6c.1992T>C (p.Ala664=)
c.*25-22972A>G (n.*25-22972A>G)
c.1586T>C
c.1539T>C (p.Ala513=)
n.2125T>C
12g.12164333A>TCA478660527BCL2L14,LRP6c.1992T>A (p.Ala664=)
c.*25-22972A>T (n.*25-22972A>T)
c.1586T>A
c.1539T>A (p.Ala513=)
n.2125T>A
 COSMIC
12g.12164334G>ACA383946401BCL2L14,LRP6c.1991C>T (p.Ala664Val)
c.*25-22971G>A (n.*25-22971G>A)
c.1585C>T
c.1538C>T (p.Ala513Val)
n.2124C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.12164334G>CCA383946403BCL2L14,LRP6c.1991C>G (p.Ala664Gly)
c.*25-22971G>C (n.*25-22971G>C)
c.1585C>G
c.1538C>G (p.Ala513Gly)
n.2124C>G
12g.12164334G=CA2016783030BCL2L14,LRP6c.1991C= (p.Ala664=)
c.*25-22971G= (n.*25-22971G=)
c.1585C=
c.1538C= (p.Ala513=)
n.2124C=
12g.12164334G>TCA383946402BCL2L14,LRP6c.1991C>A (p.Ala664Asp)
c.*25-22971G>T (n.*25-22971G>T)
c.1585C>A
c.1538C>A (p.Ala513Asp)
n.2124C>A
12g.12164335C>ACA383946404BCL2L14,LRP6c.1990G>T (p.Ala664Ser)
c.*25-22970C>A (n.*25-22970C>A)
c.1584G>T
c.1537G>T (p.Ala513Ser)
n.2123G>T
12g.12164335C=CA2016783031BCL2L14,LRP6c.1990G= (p.Ala664=)
c.*25-22970C= (n.*25-22970C=)
c.1584G=
c.1537G= (p.Ala513=)
n.2123G=
12g.12164335C>GCA383946405BCL2L14,LRP6c.1990G>C (p.Ala664Pro)
c.*25-22970C>G (n.*25-22970C>G)
c.1584G>C
c.1537G>C (p.Ala513Pro)
n.2123G>C
 gnomAD v4
12g.12164335C>TCA383946406BCL2L14,LRP6c.1990G>A (p.Ala664Thr)
c.*25-22970C>T (n.*25-22970C>T)
c.1584G>A
c.1537G>A (p.Ala513Thr)
n.2123G>A
 dbSNP gnomAD v3 gnomAD v4
12g.12164336T>ACA383946407BCL2L14,LRP6c.1989A>T (p.Glu663Asp)
c.*25-22969T>A (n.*25-22969T>A)
c.1583A>T
c.1536A>T (p.Glu512Asp)
n.2122A>T
12g.12164336T>CCA478660531BCL2L14,LRP6c.1989A>G (p.Glu663=)
c.*25-22969T>C (n.*25-22969T>C)
c.1583A>G
c.1536A>G (p.Glu512=)
n.2122A>G
12g.12164336T>GCA383946408BCL2L14,LRP6c.1989A>C (p.Glu663Asp)
c.*25-22969T>G (n.*25-22969T>G)
c.1583A>C
c.1536A>C (p.Glu512Asp)
n.2122A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.12164336T=CA2016783032BCL2L14,LRP6c.1989A= (p.Glu663=)
c.*25-22969T= (n.*25-22969T=)
c.1583A=
c.1536A= (p.Glu512=)
n.2122A=
12g.12164337T>ACA383946409BCL2L14,LRP6c.1988A>T (p.Glu663Val)
c.*25-22968T>A (n.*25-22968T>A)
c.1582A>T
c.1535A>T (p.Glu512Val)
n.2121A>T
12g.12164337T>CCA383946410BCL2L14,LRP6c.1988A>G (p.Glu663Gly)
c.*25-22968T>C (n.*25-22968T>C)
c.1582A>G
c.1535A>G (p.Glu512Gly)
n.2121A>G
12g.12164337T>GCA383946411BCL2L14,LRP6c.1988A>C (p.Glu663Ala)
c.*25-22968T>G (n.*25-22968T>G)
c.1582A>C
c.1535A>C (p.Glu512Ala)
n.2121A>C
12g.12164338C>ACA383946412BCL2L14,LRP6c.1987G>T (p.Glu663Ter)
c.*25-22967C>A (n.*25-22967C>A)
c.1581G>T
c.1534G>T (p.Glu512Ter)
n.2120G>T
12g.12164338C>GCA383946413BCL2L14,LRP6c.1987G>C (p.Glu663Gln)
c.*25-22967C>G (n.*25-22967C>G)
c.1581G>C
c.1534G>C (p.Glu512Gln)
n.2120G>C
12g.12164338C>TCA383946414BCL2L14,LRP6c.1987G>A (p.Glu663Lys)
c.*25-22967C>T (n.*25-22967C>T)
c.1581G>A
c.1534G>A (p.Glu512Lys)
n.2120G>A
12g.12164338_12164339delinsCTCA2016783033BCL2L14,LRP6c.1986_1987delinsAG (p.Lys662=)
c.*25-22967_*25-22966delinsCT (n.*25-22967_*25-22966delinsCT)
c.1580_1581delinsAG
c.1533_1534delinsAG (p.Lys511=)
n.2119_2120delinsAG
12g.12164339T>ACA383946416BCL2L14,LRP6c.1986A>T (p.Lys662Asn)
c.*25-22966T>A (n.*25-22966T>A)
c.1580A>T
c.1533A>T (p.Lys511Asn)
n.2119A>T
12g.12164339T>CCA478660532BCL2L14,LRP6c.1986A>G (p.Lys662=)
c.*25-22966T>C (n.*25-22966T>C)
c.1580A>G
c.1533A>G (p.Lys511=)
n.2119A>G
 gnomAD v4
12g.12164339T>GCA383946415BCL2L14,LRP6c.1986A>C (p.Lys662Asn)
c.*25-22966T>G (n.*25-22966T>G)
c.1580A>C
c.1533A>C (p.Lys511Asn)
n.2119A>C
12g.12164341delCA232993088BCL2L14,LRP6c.1986del (p.Glu663LysfsTer9)
c.*25-22964del (n.*25-22964del)
c.1580del
c.1533del (p.Glu512LysfsTer9)
n.2119del
 dbSNP gnomAD v3 gnomAD v4
12g.12164340T>ACA383946417BCL2L14,LRP6c.1985A>T (p.Lys662Ile)
c.*25-22965T>A (n.*25-22965T>A)
c.1579A>T
c.1532A>T (p.Lys511Ile)
n.2118A>T
12g.12164340T>CCA383946418BCL2L14,LRP6c.1985A>G (p.Lys662Arg)
c.*25-22965T>C (n.*25-22965T>C)
c.1579A>G
c.1532A>G (p.Lys511Arg)
n.2118A>G
 gnomAD v4
12g.12164340T>GCA383946419BCL2L14,LRP6c.1985A>C (p.Lys662Thr)
c.*25-22965T>G (n.*25-22965T>G)
c.1579A>C
c.1532A>C (p.Lys511Thr)
n.2118A>C
12g.12164341T>ACA383946420BCL2L14,LRP6c.1984A>T (p.Lys662Ter)
c.*25-22964T>A (n.*25-22964T>A)
c.1578A>T
c.1531A>T (p.Lys511Ter)
n.2117A>T
12g.12164341T>CCA383946421BCL2L14,LRP6c.1984A>G (p.Lys662Glu)
c.*25-22964T>C (n.*25-22964T>C)
c.1578A>G
c.1531A>G (p.Lys511Glu)
n.2117A>G
12g.12164341T>GCA383946422BCL2L14,LRP6c.1984A>C (p.Lys662Gln)
c.*25-22964T>G (n.*25-22964T>G)
c.1578A>C
c.1531A>C (p.Lys511Gln)
n.2117A>C
12g.12164342G>ACA478660534BCL2L14,LRP6c.1983C>T (p.Val661=)
c.*25-22963G>A (n.*25-22963G>A)
c.1577C>T
c.1530C>T (p.Val510=)
n.2116C>T
12g.12164342G>CCA6455559BCL2L14,LRP6c.1983C>G (p.Val661=)
c.*25-22963G>C (n.*25-22963G>C)
c.1577C>G
c.1530C>G (p.Val510=)
n.2116C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.12164342G=CA2016783034BCL2L14,LRP6c.1983C= (p.Val661=)
c.*25-22963G= (n.*25-22963G=)
c.1577C=
c.1530C= (p.Val510=)
n.2116C=
12g.12164342G>TCA478660533BCL2L14,LRP6c.1983C>A (p.Val661=)
c.*25-22963G>T (n.*25-22963G>T)
c.1577C>A
c.1530C>A (p.Val510=)
n.2116C>A
12g.12164343A>CCA383946423BCL2L14,LRP6c.1982T>G (p.Val661Gly)
c.*25-22962A>C (n.*25-22962A>C)
c.1576T>G
c.1529T>G (p.Val510Gly)
n.2115T>G
12g.12164343A>GCA383946424BCL2L14,LRP6c.1982T>C (p.Val661Ala)
c.*25-22962A>G (n.*25-22962A>G)
c.1576T>C
c.1529T>C (p.Val510Ala)
n.2115T>C
12g.12164343A>TCA383946425BCL2L14,LRP6c.1982T>A (p.Val661Asp)
c.*25-22962A>T (n.*25-22962A>T)
c.1576T>A
c.1529T>A (p.Val510Asp)
n.2115T>A
12g.12164344C>ACA383946426BCL2L14,LRP6c.1981G>T (p.Val661Phe)
c.*25-22961C>A (n.*25-22961C>A)
c.1575G>T
c.1528G>T (p.Val510Phe)
n.2114G>T
12g.12164344C>GCA383946427BCL2L14,LRP6c.1981G>C (p.Val661Leu)
c.*25-22961C>G (n.*25-22961C>G)
c.1575G>C
c.1528G>C (p.Val510Leu)
n.2114G>C
12g.12164344C>TCA383946428BCL2L14,LRP6c.1981G>A (p.Val661Ile)
c.*25-22961C>T (n.*25-22961C>T)
c.1575G>A
c.1528G>A (p.Val510Ile)
n.2114G>A
12g.12164345A>CCA478660535BCL2L14,LRP6c.1980T>G (p.Gly660=)
c.*25-22960A>C (n.*25-22960A>C)
c.1574T>G
c.1527T>G (p.Gly509=)
n.2113T>G
12g.12164345A>GCA478660536BCL2L14,LRP6c.1980T>C (p.Gly660=)
c.*25-22960A>G (n.*25-22960A>G)
c.1574T>C
c.1527T>C (p.Gly509=)
n.2113T>C
12g.12164345A>TCA478660537BCL2L14,LRP6c.1980T>A (p.Gly660=)
c.*25-22960A>T (n.*25-22960A>T)
c.1574T>A
c.1527T>A (p.Gly509=)
n.2113T>A
12g.12164346C>ACA383946431BCL2L14,LRP6c.1979G>T (p.Gly660Val)
c.*25-22959C>A (n.*25-22959C>A)
c.1573G>T
c.1526G>T (p.Gly509Val)
n.2112G>T
12g.12164346C>GCA383946429BCL2L14,LRP6c.1979G>C (p.Gly660Ala)
c.*25-22959C>G (n.*25-22959C>G)
c.1573G>C
c.1526G>C (p.Gly509Ala)
n.2112G>C
12g.12164346C>TCA383946430BCL2L14,LRP6c.1979G>A (p.Gly660Asp)
c.*25-22959C>T (n.*25-22959C>T)
c.1573G>A
c.1526G>A (p.Gly509Asp)
n.2112G>A
12g.12164347C>ACA383946432BCL2L14,LRP6c.1978G>T (p.Gly660Cys)
c.*25-22958C>A (n.*25-22958C>A)
c.1572G>T
c.1525G>T (p.Gly509Cys)
n.2111G>T
12g.12164347C>GCA383946433BCL2L14,LRP6c.1978G>C (p.Gly660Arg)
c.*25-22958C>G (n.*25-22958C>G)
c.1572G>C
c.1525G>C (p.Gly509Arg)
n.2111G>C
12g.12164347C>TCA383946434BCL2L14,LRP6c.1978G>A (p.Gly660Ser)
c.*25-22958C>T (n.*25-22958C>T)
c.1572G>A
c.1525G>A (p.Gly509Ser)
n.2111G>A
12g.12164348A>CCA478660538BCL2L14,LRP6c.1977T>G (p.Thr659=)
c.*25-22957A>C (n.*25-22957A>C)
c.1571T>G
c.1524T>G (p.Thr508=)
n.2110T>G
12g.12164348A>GCA478660539BCL2L14,LRP6c.1977T>C (p.Thr659=)
c.*25-22957A>G (n.*25-22957A>G)
c.1571T>C
c.1524T>C (p.Thr508=)
n.2110T>C
12g.12164348A>TCA478660540BCL2L14,LRP6c.1977T>A (p.Thr659=)
c.*25-22957A>T (n.*25-22957A>T)
c.1571T>A
c.1524T>A (p.Thr508=)
n.2110T>A
12g.12164349G>ACA383946435BCL2L14,LRP6c.1976C>T (p.Thr659Ile)
c.*25-22956G>A (n.*25-22956G>A)
c.1570C>T
c.1523C>T (p.Thr508Ile)
n.2109C>T
12g.12164349G>CCA383946436BCL2L14,LRP6c.1976C>G (p.Thr659Ser)
c.*25-22956G>C (n.*25-22956G>C)
c.1570C>G
c.1523C>G (p.Thr508Ser)
n.2109C>G
 gnomAD v4
12g.12164349G>TCA383946437BCL2L14,LRP6c.1976C>A (p.Thr659Asn)
c.*25-22956G>T (n.*25-22956G>T)
c.1570C>A
c.1523C>A (p.Thr508Asn)
n.2109C>A
12g.12164350T>ACA383946438BCL2L14,LRP6c.1975A>T (p.Thr659Ser)
c.*25-22955T>A (n.*25-22955T>A)
c.1569A>T
c.1522A>T (p.Thr508Ser)
n.2108A>T
12g.12164350T>CCA383946439BCL2L14,LRP6c.1975A>G (p.Thr659Ala)
c.*25-22955T>C (n.*25-22955T>C)
c.1569A>G
c.1522A>G (p.Thr508Ala)
n.2108A>G
12g.12164350T>GCA383946440BCL2L14,LRP6c.1975A>C (p.Thr659Pro)
c.*25-22955T>G (n.*25-22955T>G)
c.1569A>C
c.1522A>C (p.Thr508Pro)
n.2108A>C
12g.12164351G>ACA478660541BCL2L14,LRP6c.1974C>T (p.Leu658=)
c.*25-22954G>A (n.*25-22954G>A)
c.1568C>T
c.1521C>T (p.Leu507=)
n.2107C>T
 gnomAD v4
12g.12164351G>CCA478660543BCL2L14,LRP6c.1974C>G (p.Leu658=)
c.*25-22954G>C (n.*25-22954G>C)
c.1568C>G
c.1521C>G (p.Leu507=)
n.2107C>G
12g.12164351G>TCA478660542BCL2L14,LRP6c.1974C>A (p.Leu658=)
c.*25-22954G>T (n.*25-22954G>T)
c.1568C>A
c.1521C>A (p.Leu507=)
n.2107C>A
12g.12164352A>CCA383946441BCL2L14,LRP6c.1973T>G (p.Leu658Arg)
c.*25-22953A>C (n.*25-22953A>C)
c.1567T>G
c.1520T>G (p.Leu507Arg)
n.2106T>G
12g.12164352A>GCA383946442BCL2L14,LRP6c.1973T>C (p.Leu658Pro)
c.*25-22953A>G (n.*25-22953A>G)
c.1567T>C
c.1520T>C (p.Leu507Pro)
n.2106T>C
12g.12164352A>TCA383946443BCL2L14,LRP6c.1973T>A (p.Leu658His)
c.*25-22953A>T (n.*25-22953A>T)
c.1567T>A
c.1520T>A (p.Leu507His)
n.2106T>A
12g.12164353G>ACA383946444BCL2L14,LRP6c.1972C>T (p.Leu658Phe)
c.*25-22952G>A (n.*25-22952G>A)
c.1566C>T
c.1519C>T (p.Leu507Phe)
n.2105C>T
12g.12164353G>CCA383946446BCL2L14,LRP6c.1972C>G (p.Leu658Val)
c.*25-22952G>C (n.*25-22952G>C)
c.1566C>G
c.1519C>G (p.Leu507Val)
n.2105C>G
12g.12164353G>TCA383946445BCL2L14,LRP6c.1972C>A (p.Leu658Ile)
c.*25-22952G>T (n.*25-22952G>T)
c.1566C>A
c.1519C>A (p.Leu507Ile)
n.2105C>A
12g.12164354T>ACA478660544BCL2L14,LRP6c.1971A>T (p.Pro657=)
c.*25-22951T>A (n.*25-22951T>A)
c.1565A>T
c.1518A>T (p.Pro506=)
n.2104A>T
12g.12164354T>CCA478660545BCL2L14,LRP6c.1971A>G (p.Pro657=)
c.*25-22951T>C (n.*25-22951T>C)
c.1565A>G
c.1518A>G (p.Pro506=)
n.2104A>G
 ClinVar
12g.12164354T>GCA478660546BCL2L14,LRP6c.1971A>C (p.Pro657=)
c.*25-22951T>G (n.*25-22951T>G)
c.1565A>C
c.1518A>C (p.Pro506=)
n.2104A>C
12g.12164355G>ACA383946447BCL2L14,LRP6c.1970C>T (p.Pro657Leu)
c.*25-22950G>A (n.*25-22950G>A)
c.1564C>T
c.1517C>T (p.Pro506Leu)
n.2103C>T
 COSMIC
12g.12164355G>CCA383946449BCL2L14,LRP6c.1970C>G (p.Pro657Arg)
c.*25-22950G>C (n.*25-22950G>C)
c.1564C>G
c.1517C>G (p.Pro506Arg)
n.2103C>G
12g.12164355G>TCA383946448BCL2L14,LRP6c.1970C>A (p.Pro657Gln)
c.*25-22950G>T (n.*25-22950G>T)
c.1564C>A
c.1517C>A (p.Pro506Gln)
n.2103C>A
12g.12164356G>ACA383946450BCL2L14,LRP6c.1969C>T (p.Pro657Ser)
c.*25-22949G>A (n.*25-22949G>A)
c.1563C>T
c.1516C>T (p.Pro506Ser)
n.2102C>T
12g.12164356G>CCA383946451BCL2L14,LRP6c.1969C>G (p.Pro657Ala)
c.*25-22949G>C (n.*25-22949G>C)
c.1563C>G
c.1516C>G (p.Pro506Ala)
n.2102C>G
12g.12164356G>TCA383946452BCL2L14,LRP6c.1969C>A (p.Pro657Thr)
c.*25-22949G>T (n.*25-22949G>T)
c.1563C>A
c.1516C>A (p.Pro506Thr)
n.2102C>A
12g.12164357A=CA2016783035BCL2L14,LRP6c.1968T= (p.Ile656=)
c.*25-22948A= (n.*25-22948A=)
c.1562T=
c.1515T= (p.Ile505=)
n.2101T=
12g.12164357A>CCA383946453BCL2L14,LRP6c.1968T>G (p.Ile656Met)
c.*25-22948A>C (n.*25-22948A>C)
c.1562T>G
c.1515T>G (p.Ile505Met)
n.2101T>G
12g.12164357A>GCA478660547BCL2L14,LRP6c.1968T>C (p.Ile656=)
c.*25-22948A>G (n.*25-22948A>G)
c.1562T>C
c.1515T>C (p.Ile505=)
n.2101T>C
 dbSNP gnomAD v3 gnomAD v4
12g.12164357A>TCA6455560BCL2L14,LRP6c.1968T>A (p.Ile656=)
c.*25-22948A>T (n.*25-22948A>T)
c.1562T>A
c.1515T>A (p.Ile505=)
n.2101T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.12164358A>CCA383946454BCL2L14,LRP6c.1967T>G (p.Ile656Ser)
c.*25-22947A>C (n.*25-22947A>C)
c.1561T>G
c.1514T>G (p.Ile505Ser)
n.2100T>G
12g.12164358A>GCA383946455BCL2L14,LRP6c.1967T>C (p.Ile656Thr)
c.*25-22947A>G (n.*25-22947A>G)
c.1561T>C
c.1514T>C (p.Ile505Thr)
n.2100T>C
12g.12164358A>TCA383946456BCL2L14,LRP6c.1967T>A (p.Ile656Asn)
c.*25-22947A>T (n.*25-22947A>T)
c.1561T>A
c.1514T>A (p.Ile505Asn)
n.2100T>A
12g.12164359T>ACA383946457BCL2L14,LRP6c.1966A>T (p.Ile656Phe)
c.*25-22946T>A (n.*25-22946T>A)
c.1560A>T
c.1513A>T (p.Ile505Phe)
n.2099A>T
12g.12164359T>CCA6455561BCL2L14,LRP6c.1966A>G (p.Ile656Val)
c.*25-22946T>C (n.*25-22946T>C)
c.1560A>G
c.1513A>G (p.Ile505Val)
n.2099A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.12164359T>GCA383946458BCL2L14,LRP6c.1966A>C (p.Ile656Leu)
c.*25-22946T>G (n.*25-22946T>G)
c.1560A>C
c.1513A>C (p.Ile505Leu)
n.2099A>C
 dbSNP gnomAD v2 gnomAD v4
12g.12164359T=CA2016783036BCL2L14,LRP6c.1966A= (p.Ile656=)
c.*25-22946T= (n.*25-22946T=)
c.1560A=
c.1513A= (p.Ile505=)
n.2099A=
12g.12164360A>CCA478660548BCL2L14,LRP6c.1965T>G (p.Ala655=)
c.*25-22945A>C (n.*25-22945A>C)
c.1559T>G
c.1512T>G (p.Ala504=)
n.2098T>G
 COSMIC
12g.12164360A>GCA478660549BCL2L14,LRP6c.1965T>C (p.Ala655=)
c.*25-22945A>G (n.*25-22945A>G)
c.1559T>C
c.1512T>C (p.Ala504=)
n.2098T>C
 dbSNP gnomAD v3 gnomAD v4
12g.12164360A>TCA478660550BCL2L14,LRP6c.1965T>A (p.Ala655=)
c.*25-22945A>T (n.*25-22945A>T)
c.1559T>A
c.1512T>A (p.Ala504=)
n.2098T>A
12g.12164361G>ACA383946461BCL2L14,LRP6c.1964C>T (p.Ala655Val)
c.*25-22944G>A (n.*25-22944G>A)
c.1558C>T
c.1511C>T (p.Ala504Val)
n.2097C>T
12g.12164361G>CCA383946460BCL2L14,LRP6c.1964C>G (p.Ala655Gly)
c.*25-22944G>C (n.*25-22944G>C)
c.1558C>G
c.1511C>G (p.Ala504Gly)
n.2097C>G
12g.12164361G>TCA383946459BCL2L14,LRP6c.1964C>A (p.Ala655Asp)
c.*25-22944G>T (n.*25-22944G>T)
c.1558C>A
c.1511C>A (p.Ala504Asp)
n.2097C>A
12g.12164362C>ACA383946462BCL2L14,LRP6c.1963G>T (p.Ala655Ser)
c.*25-22943C>A (n.*25-22943C>A)
c.1557G>T
c.1510G>T (p.Ala504Ser)
n.2096G>T
 dbSNP
12g.12164362C>GCA383946463BCL2L14,LRP6c.1963G>C (p.Ala655Pro)
c.*25-22943C>G (n.*25-22943C>G)
c.1557G>C
c.1510G>C (p.Ala504Pro)
n.2096G>C
12g.12164362C>TCA383946464BCL2L14,LRP6c.1963G>A (p.Ala655Thr)
c.*25-22943C>T (n.*25-22943C>T)
c.1557G>A
c.1510G>A (p.Ala504Thr)
n.2096G>A
12g.12164363C>ACA478660551BCL2L14,LRP6c.1962G>T (p.Val654=)
c.*25-22942C>A (n.*25-22942C>A)
c.1556G>T
c.1509G>T (p.Val503=)
n.2095G>T
12g.12164363C=CA2016783037BCL2L14,LRP6c.1962G= (p.Val654=)
c.*25-22942C= (n.*25-22942C=)
c.1556G=
c.1509G= (p.Val503=)
n.2095G=
12g.12164363C>GCA478660552BCL2L14,LRP6c.1962G>C (p.Val654=)
c.*25-22942C>G (n.*25-22942C>G)
c.1556G>C
c.1509G>C (p.Val503=)
n.2095G>C
12g.12164363C>TCA232993106BCL2L14,LRP6c.1962G>A (p.Val654=)
c.*25-22942C>T (n.*25-22942C>T)
c.1556G>A
c.1509G>A (p.Val503=)
n.2095G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.12164364A>CCA383946465BCL2L14,LRP6c.1961T>G (p.Val654Gly)
c.*25-22941A>C (n.*25-22941A>C)
c.1555T>G
c.1508T>G (p.Val503Gly)
n.2094T>G
12g.12164364A>GCA383946466BCL2L14,LRP6c.1961T>C (p.Val654Ala)
c.*25-22941A>G (n.*25-22941A>G)
c.1555T>C
c.1508T>C (p.Val503Ala)
n.2094T>C
12g.12164364A>TCA383946467BCL2L14,LRP6c.1961T>A (p.Val654Glu)
c.*25-22941A>T (n.*25-22941A>T)
c.1555T>A
c.1508T>A (p.Val503Glu)
n.2094T>A
12g.12164365C>ACA383946468BCL2L14,LRP6c.1960G>T (p.Val654Leu)
c.*25-22940C>A (n.*25-22940C>A)
c.1554G>T
c.1507G>T (p.Val503Leu)
n.2093G>T
12g.12164365C=CA2016783038BCL2L14,LRP6c.1960G= (p.Val654=)
c.*25-22940C= (n.*25-22940C=)
c.1554G=
c.1507G= (p.Val503=)
n.2093G=
12g.12164365C>GCA383946469BCL2L14,LRP6c.1960G>C (p.Val654Leu)
c.*25-22940C>G (n.*25-22940C>G)
c.1554G>C
c.1507G>C (p.Val503Leu)
n.2093G>C
12g.12164365C>TCA6455562BCL2L14,LRP6c.1960G>A (p.Val654Met)
c.*25-22940C>T (n.*25-22940C>T)
c.1554G>A
c.1507G>A (p.Val503Met)
n.2093G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.12164366A=CA2016783039BCL2L14,LRP6c.1959T= (p.Asn653=)
c.*25-22939A= (n.*25-22939A=)
c.1553T=
c.1506T= (p.Asn502=)
n.2092T=
12g.12164366A>CCA383946470BCL2L14,LRP6c.1959T>G (p.Asn653Lys)
c.*25-22939A>C (n.*25-22939A>C)
c.1553T>G
c.1506T>G (p.Asn502Lys)
n.2092T>G
12g.12164366A>GCA478660553BCL2L14,LRP6c.1959T>C (p.Asn653=)
c.*25-22939A>G (n.*25-22939A>G)
c.1553T>C
c.1506T>C (p.Asn502=)
n.2092T>C
 dbSNP gnomAD v4
12g.12164366A>TCA383946471BCL2L14,LRP6c.1959T>A (p.Asn653Lys)
c.*25-22939A>T (n.*25-22939A>T)
c.1553T>A
c.1506T>A (p.Asn502Lys)
n.2092T>A
12g.12164372_12164374delCA2617689650BCL2L14,LRP6c.1957_1959del (p.Asn653del)
c.*25-22933_*25-22931del (n.*25-22933_*25-22931del)
c.1551_1553del
c.1504_1506del (p.Asn502del)
n.2090_2092del
 gnomAD v4
12g.12164367T>ACA383946474BCL2L14,LRP6c.1958A>T (p.Asn653Ile)
c.*25-22938T>A (n.*25-22938T>A)
c.1552A>T
c.1505A>T (p.Asn502Ile)
n.2091A>T
 gnomAD v4
12g.12164367T>CCA383946473BCL2L14,LRP6c.1958A>G (p.Asn653Ser)
c.*25-22938T>C (n.*25-22938T>C)
c.1552A>G
c.1505A>G (p.Asn502Ser)
n.2091A>G
12g.12164367T>GCA383946472BCL2L14,LRP6c.1958A>C (p.Asn653Thr)
c.*25-22938T>G (n.*25-22938T>G)
c.1552A>C
c.1505A>C (p.Asn502Thr)
n.2091A>C
12g.12164368T>ACA383946475BCL2L14,LRP6c.1957A>T (p.Asn653Tyr)
c.*25-22937T>A (n.*25-22937T>A)
c.1551A>T
c.1504A>T (p.Asn502Tyr)
n.2090A>T
12g.12164368T>CCA383946476BCL2L14,LRP6c.1957A>G (p.Asn653Asp)
c.*25-22937T>C (n.*25-22937T>C)
c.1551A>G
c.1504A>G (p.Asn502Asp)
n.2090A>G
12g.12164368T>GCA383946477BCL2L14,LRP6c.1957A>C (p.Asn653His)
c.*25-22937T>G (n.*25-22937T>G)
c.1551A>C
c.1504A>C (p.Asn502His)
n.2090A>C
12g.12164369A>CCA383946478BCL2L14,LRP6c.1956T>G (p.Asn652Lys)
c.*25-22936A>C (n.*25-22936A>C)
c.1550T>G
c.1503T>G (p.Asn501Lys)
n.2089T>G
12g.12164369A>GCA478660554BCL2L14,LRP6c.1956T>C (p.Asn652=)
c.*25-22936A>G (n.*25-22936A>G)
c.1550T>C
c.1503T>C (p.Asn501=)
n.2089T>C
 gnomAD v4
12g.12164369A>TCA383946479BCL2L14,LRP6c.1956T>A (p.Asn652Lys)
c.*25-22936A>T (n.*25-22936A>T)
c.1550T>A
c.1503T>A (p.Asn501Lys)
n.2089T>A
12g.12164370T>ACA383946480BCL2L14,LRP6c.1955A>T (p.Asn652Ile)
c.*25-22935T>A (n.*25-22935T>A)
c.1549A>T
c.1502A>T (p.Asn501Ile)
n.2088A>T
12g.12164370T>CCA383946481BCL2L14,LRP6c.1955A>G (p.Asn652Ser)
c.*25-22935T>C (n.*25-22935T>C)
c.1549A>G
c.1502A>G (p.Asn501Ser)
n.2088A>G
12g.12164370T>GCA383946482BCL2L14,LRP6c.1955A>C (p.Asn652Thr)
c.*25-22935T>G (n.*25-22935T>G)
c.1549A>C
c.1502A>C (p.Asn501Thr)
n.2088A>C
12g.12164371T>ACA383946483BCL2L14,LRP6c.1954A>T (p.Asn652Tyr)
c.*25-22934T>A (n.*25-22934T>A)
c.1548A>T
c.1501A>T (p.Asn501Tyr)
n.2087A>T
12g.12164371T>CCA383946484BCL2L14,LRP6c.1954A>G (p.Asn652Asp)
c.*25-22934T>C (n.*25-22934T>C)
c.1548A>G
c.1501A>G (p.Asn501Asp)
n.2087A>G
12g.12164371T>GCA383946485BCL2L14,LRP6c.1954A>C (p.Asn652His)
c.*25-22934T>G (n.*25-22934T>G)
c.1548A>C
c.1501A>C (p.Asn501His)
n.2087A>C
12g.12164372A=CA2016783040BCL2L14,LRP6c.1953T= (p.Asn651=)
c.*25-22933A= (n.*25-22933A=)
c.1547T=
c.1500T= (p.Asn500=)
n.2086T=
12g.12164372A>CCA383946486BCL2L14,LRP6c.1953T>G (p.Asn651Lys)
c.*25-22933A>C (n.*25-22933A>C)
c.1547T>G
c.1500T>G (p.Asn500Lys)
n.2086T>G
12g.12164372A>GCA478660555BCL2L14,LRP6c.1953T>C (p.Asn651=)
c.*25-22933A>G (n.*25-22933A>G)
c.1547T>C
c.1500T>C (p.Asn500=)
n.2086T>C
 dbSNP
12g.12164372A>TCA383946487BCL2L14,LRP6c.1953T>A (p.Asn651Lys)
c.*25-22933A>T (n.*25-22933A>T)
c.1547T>A
c.1500T>A (p.Asn500Lys)
n.2086T>A
 gnomAD v4
12g.12164373T>ACA383946488BCL2L14,LRP6c.1952A>T (p.Asn651Ile)
c.*25-22932T>A (n.*25-22932T>A)
c.1546A>T
c.1499A>T (p.Asn500Ile)
n.2085A>T
12g.12164373T>CCA383946490BCL2L14,LRP6c.1952A>G (p.Asn651Ser)
c.*25-22932T>C (n.*25-22932T>C)
c.1546A>G
c.1499A>G (p.Asn500Ser)
n.2085A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.12164373T>GCA383946489BCL2L14,LRP6c.1952A>C (p.Asn651Thr)
c.*25-22932T>G (n.*25-22932T>G)
c.1546A>C
c.1499A>C (p.Asn500Thr)
n.2085A>C
12g.12164373T=CA2016783041BCL2L14,LRP6c.1952A= (p.Asn651=)
c.*25-22932T= (n.*25-22932T=)
c.1546A=
c.1499A= (p.Asn500=)
n.2085A=
12g.12164374T>ACA383946491BCL2L14,LRP6c.1951A>T (p.Asn651Tyr)
c.*25-22931T>A (n.*25-22931T>A)
c.1545A>T
c.1498A>T (p.Asn500Tyr)
n.2084A>T
12g.12164374T>CCA383946492BCL2L14,LRP6c.1951A>G (p.Asn651Asp)
c.*25-22931T>C (n.*25-22931T>C)
c.1545A>G
c.1498A>G (p.Asn500Asp)
n.2084A>G
12g.12164374T>GCA383946493BCL2L14,LRP6c.1951A>C (p.Asn651His)
c.*25-22931T>G (n.*25-22931T>G)
c.1545A>C
c.1498A>C (p.Asn500His)
n.2084A>C
 gnomAD v4
12g.12164375G>ACA478660556BCL2L14,LRP6c.1950C>T (p.Asn650=)
c.*25-22930G>A (n.*25-22930G>A)
c.1544C>T
c.1497C>T (p.Asn499=)
n.2083C>T
12g.12164375G>CCA383946494BCL2L14,LRP6c.1950C>G (p.Asn650Lys)
c.*25-22930G>C (n.*25-22930G>C)
c.1544C>G
c.1497C>G (p.Asn499Lys)
n.2083C>G
 gnomAD v4
12g.12164375G>TCA383946495BCL2L14,LRP6c.1950C>A (p.Asn650Lys)
c.*25-22930G>T (n.*25-22930G>T)
c.1544C>A
c.1497C>A (p.Asn499Lys)
n.2083C>A
12g.12164376T>ACA383946496BCL2L14,LRP6c.1949A>T (p.Asn650Ile)
c.*25-22929T>A (n.*25-22929T>A)
c.1543A>T
c.1496A>T (p.Asn499Ile)
n.2082A>T
12g.12164376T>CCA383946497BCL2L14,LRP6c.1949A>G (p.Asn650Ser)
c.*25-22929T>C (n.*25-22929T>C)
c.1543A>G
c.1496A>G (p.Asn499Ser)
n.2082A>G
12g.12164376T>GCA383946498BCL2L14,LRP6c.1949A>C (p.Asn650Thr)
c.*25-22929T>G (n.*25-22929T>G)
c.1543A>C
c.1496A>C (p.Asn499Thr)
n.2082A>C
12g.12164377T>ACA383946499BCL2L14,LRP6c.1948A>T (p.Asn650Tyr)
c.*25-22928T>A (n.*25-22928T>A)
c.1542A>T
c.1495A>T (p.Asn499Tyr)
n.2081A>T
12g.12164377T>CCA383946500BCL2L14,LRP6c.1948A>G (p.Asn650Asp)
c.*25-22928T>C (n.*25-22928T>C)
c.1542A>G
c.1495A>G (p.Asn499Asp)
n.2081A>G
12g.12164377T>GCA383946501BCL2L14,LRP6c.1948A>C (p.Asn650His)
c.*25-22928T>G (n.*25-22928T>G)
c.1542A>C
c.1495A>C (p.Asn499His)
n.2081A>C
12g.12164378T>ACA478660559BCL2L14,LRP6c.1947A>T (p.Thr649=)
c.*25-22927T>A (n.*25-22927T>A)
c.1541A>T
c.1494A>T (p.Thr498=)
n.2080A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.12164378T>CCA478660558BCL2L14,LRP6c.1947A>G (p.Thr649=)
c.*25-22927T>C (n.*25-22927T>C)
c.1541A>G
c.1494A>G (p.Thr498=)
n.2080A>G
12g.12164378T>GCA478660557BCL2L14,LRP6c.1947A>C (p.Thr649=)
c.*25-22927T>G (n.*25-22927T>G)
c.1541A>C
c.1494A>C (p.Thr498=)
n.2080A>C
12g.12164378T=CA2016783042BCL2L14,LRP6c.1947A= (p.Thr649=)
c.*25-22927T= (n.*25-22927T=)
c.1541A=
c.1494A= (p.Thr498=)
n.2080A=
12g.12164379G>ACA383946502BCL2L14,LRP6c.1946C>T (p.Thr649Ile)
c.*25-22926G>A (n.*25-22926G>A)
c.1540C>T
c.1493C>T (p.Thr498Ile)
n.2079C>T
12g.12164379G>CCA383946503BCL2L14,LRP6c.1946C>G (p.Thr649Arg)
c.*25-22926G>C (n.*25-22926G>C)
c.1540C>G
c.1493C>G (p.Thr498Arg)
n.2079C>G
12g.12164379G=CA2016783043BCL2L14,LRP6c.1946C= (p.Thr649=)
c.*25-22926G= (n.*25-22926G=)
c.1540C=
c.1493C= (p.Thr498=)
n.2079C=
12g.12164379G>TCA232993111BCL2L14,LRP6c.1946C>A (p.Thr649Lys)
c.*25-22926G>T (n.*25-22926G>T)
c.1540C>A
c.1493C>A (p.Thr498Lys)
n.2079C>A
 dbSNP
12g.12164380T>ACA383946504BCL2L14,LRP6c.1945A>T (p.Thr649Ser)
c.*25-22925T>A (n.*25-22925T>A)
c.1539A>T
c.1492A>T (p.Thr498Ser)
n.2078A>T
12g.12164380T>CCA6455563BCL2L14,LRP6c.1945A>G (p.Thr649Ala)
c.*25-22925T>C (n.*25-22925T>C)
c.1539A>G
c.1492A>G (p.Thr498Ala)
n.2078A>G
 dbSNP ExAC gnomAD v4
12g.12164380T>GCA383946505BCL2L14,LRP6c.1945A>C (p.Thr649Pro)
c.*25-22925T>G (n.*25-22925T>G)
c.1539A>C
c.1492A>C (p.Thr498Pro)
n.2078A>C
12g.12164380T=CA2016783044BCL2L14,LRP6c.1945A= (p.Thr649=)
c.*25-22925T= (n.*25-22925T=)
c.1539A=
c.1492A= (p.Thr498=)
n.2078A=
12g.12164381T>ACA383946506BCL2L14,LRP6c.1944A>T (p.Glu648Asp)
c.*25-22924T>A (n.*25-22924T>A)
c.1538A>T
c.1491A>T (p.Glu497Asp)
n.2077A>T
12g.12164381T>CCA478660560BCL2L14,LRP6c.1944A>G (p.Glu648=)
c.*25-22924T>C (n.*25-22924T>C)
c.1538A>G
c.1491A>G (p.Glu497=)
n.2077A>G
 ClinVar
12g.12164381T>GCA383946507BCL2L14,LRP6c.1944A>C (p.Glu648Asp)
c.*25-22924T>G (n.*25-22924T>G)
c.1538A>C
c.1491A>C (p.Glu497Asp)
n.2077A>C
12g.12164382T>ACA232993117BCL2L14,LRP6c.1943A>T (p.Glu648Val)
c.*25-22923T>A (n.*25-22923T>A)
c.1537A>T
c.1490A>T (p.Glu497Val)
n.2076A>T
 dbSNP
12g.12164382T>CCA383946508BCL2L14,LRP6c.1943A>G (p.Glu648Gly)
c.*25-22923T>C (n.*25-22923T>C)
c.1537A>G
c.1490A>G (p.Glu497Gly)
n.2076A>G
 ClinVar gnomAD v4
12g.12164382T>GCA383946509BCL2L14,LRP6c.1943A>C (p.Glu648Ala)
c.*25-22923T>G (n.*25-22923T>G)
c.1537A>C
c.1490A>C (p.Glu497Ala)
n.2076A>C
12g.12164382T=CA2016783045BCL2L14,LRP6c.1943A= (p.Glu648=)
c.*25-22923T= (n.*25-22923T=)
c.1537A=
c.1490A= (p.Glu497=)
n.2076A=
12g.12164383C>ACA383946510BCL2L14,LRP6c.1942G>T (p.Glu648Ter)
c.*25-22922C>A (n.*25-22922C>A)
c.1536G>T
c.1489G>T (p.Glu497Ter)
n.2075G>T
12g.12164383C>GCA383946511BCL2L14,LRP6c.1942G>C (p.Glu648Gln)
c.*25-22922C>G (n.*25-22922C>G)
c.1536G>C
c.1489G>C (p.Glu497Gln)
n.2075G>C
12g.12164383C>TCA383946512BCL2L14,LRP6c.1942G>A (p.Glu648Lys)
c.*25-22922C>T (n.*25-22922C>T)
c.1536G>A
c.1489G>A (p.Glu497Lys)
n.2075G>A
 gnomAD v4
12g.12164384delCA2725540914BCL2L14,LRP6c.1942del (p.Glu648LysfsTer24)
c.*25-22921del (n.*25-22921del)
c.1536del
c.1489del (p.Glu497LysfsTer24)
n.2075del
 dbSNP
12g.12164384C>ACA478660563BCL2L14,LRP6c.1941G>T (p.Leu647=)
c.*25-22921C>A (n.*25-22921C>A)
c.1535G>T
c.1488G>T (p.Leu496=)
n.2074G>T
12g.12164384C>GCA478660561BCL2L14,LRP6c.1941G>C (p.Leu647=)
c.*25-22921C>G (n.*25-22921C>G)
c.1535G>C
c.1488G>C (p.Leu496=)
n.2074G>C
12g.12164384C>TCA478660562BCL2L14,LRP6c.1941G>A (p.Leu647=)
c.*25-22921C>T (n.*25-22921C>T)
c.1535G>A
c.1488G>A (p.Leu496=)
n.2074G>A
12g.12164385A>CCA383946513BCL2L14,LRP6c.1940T>G (p.Leu647Arg)
c.*25-22920A>C (n.*25-22920A>C)
c.1534T>G
c.1487T>G (p.Leu496Arg)
n.2073T>G
12g.12164385A>GCA383946514BCL2L14,LRP6c.1940T>C (p.Leu647Pro)
c.*25-22920A>G (n.*25-22920A>G)
c.1534T>C
c.1487T>C (p.Leu496Pro)
n.2073T>C
12g.12164385A>TCA383946515BCL2L14,LRP6c.1940T>A (p.Leu647Gln)
c.*25-22920A>T (n.*25-22920A>T)
c.1534T>A
c.1487T>A (p.Leu496Gln)
n.2073T>A
12g.12164386G>ACA478660564BCL2L14,LRP6c.1939C>T (p.Leu647=)
c.*25-22919G>A (n.*25-22919G>A)
c.1533C>T
c.1486C>T (p.Leu496=)
n.2072C>T
 dbSNP
12g.12164386G>CCA383946516BCL2L14,LRP6c.1939C>G (p.Leu647Val)
c.*25-22919G>C (n.*25-22919G>C)
c.1533C>G
c.1486C>G (p.Leu496Val)
n.2072C>G
 dbSNP gnomAD v3 gnomAD v4
12g.12164386G=CA2016783046BCL2L14,LRP6c.1939C= (p.Leu647=)
c.*25-22919G= (n.*25-22919G=)
c.1533C=
c.1486C= (p.Leu496=)
n.2072C=
12g.12164386G>TCA383946517BCL2L14,LRP6c.1939C>A (p.Leu647Met)
c.*25-22919G>T (n.*25-22919G>T)
c.1533C>A
c.1486C>A (p.Leu496Met)
n.2072C>A
12g.12164387A>CCA478660565BCL2L14,LRP6c.1938T>G (p.Ser646=)
c.*25-22918A>C (n.*25-22918A>C)
c.1532T>G
c.1485T>G (p.Ser495=)
n.2071T>G
12g.12164387A>GCA478660567BCL2L14,LRP6c.1938T>C (p.Ser646=)
c.*25-22918A>G (n.*25-22918A>G)
c.1532T>C
c.1485T>C (p.Ser495=)
n.2071T>C
 gnomAD v3 gnomAD v4
12g.12164387A>TCA478660566BCL2L14,LRP6c.1938T>A (p.Ser646=)
c.*25-22918A>T (n.*25-22918A>T)
c.1532T>A
c.1485T>A (p.Ser495=)
n.2071T>A
12g.12164388G>ACA383946518BCL2L14,LRP6c.1937C>T (p.Ser646Phe)
c.*25-22917G>A (n.*25-22917G>A)
c.1531C>T
c.1484C>T (p.Ser495Phe)
n.2070C>T
12g.12164388G>CCA383946520BCL2L14,LRP6c.1937C>G (p.Ser646Cys)
c.*25-22917G>C (n.*25-22917G>C)
c.1531C>G
c.1484C>G (p.Ser495Cys)
n.2070C>G
 dbSNP gnomAD v2
12g.12164388G=CA2016783047BCL2L14,LRP6c.1937C= (p.Ser646=)
c.*25-22917G= (n.*25-22917G=)
c.1531C=
c.1484C= (p.Ser495=)
n.2070C=
12g.12164388G>TCA383946519BCL2L14,LRP6c.1937C>A (p.Ser646Tyr)
c.*25-22917G>T (n.*25-22917G>T)
c.1531C>A
c.1484C>A (p.Ser495Tyr)
n.2070C>A
12g.12164389A>CCA383946521BCL2L14,LRP6c.1936T>G (p.Ser646Ala)
c.*25-22916A>C (n.*25-22916A>C)
c.1530T>G
c.1483T>G (p.Ser495Ala)
n.2069T>G
12g.12164389A>GCA383946522BCL2L14,LRP6c.1936T>C (p.Ser646Pro)
c.*25-22916A>G (n.*25-22916A>G)
c.1530T>C
c.1483T>C (p.Ser495Pro)
n.2069T>C
12g.12164389A>TCA383946523BCL2L14,LRP6c.1936T>A (p.Ser646Thr)
c.*25-22916A>T (n.*25-22916A>T)
c.1530T>A
c.1483T>A (p.Ser495Thr)
n.2069T>A
12g.12164390A>CCA383946524BCL2L14,LRP6c.1935T>G (p.Ile645Met)
c.*25-22915A>C (n.*25-22915A>C)
c.1529T>G
c.1482T>G (p.Ile494Met)
n.2068T>G
12g.12164390A>GCA478660568BCL2L14,LRP6c.1935T>C (p.Ile645=)
c.*25-22915A>G (n.*25-22915A>G)
c.1529T>C
c.1482T>C (p.Ile494=)
n.2068T>C
12g.12164390A>TCA478660569BCL2L14,LRP6c.1935T>A (p.Ile645=)
c.*25-22915A>T (n.*25-22915A>T)
c.1529T>A
c.1482T>A (p.Ile494=)
n.2068T>A
12g.12164391A>CCA383946525BCL2L14,LRP6c.1934T>G (p.Ile645Ser)
c.*25-22914A>C (n.*25-22914A>C)
c.1528T>G
c.1481T>G (p.Ile494Ser)
n.2067T>G
12g.12164391A>GCA383946526BCL2L14,LRP6c.1934T>C (p.Ile645Thr)
c.*25-22914A>G (n.*25-22914A>G)
c.1528T>C
c.1481T>C (p.Ile494Thr)
n.2067T>C
12g.12164391A>TCA383946527BCL2L14,LRP6c.1934T>A (p.Ile645Asn)
c.*25-22914A>T (n.*25-22914A>T)
c.1528T>A
c.1481T>A (p.Ile494Asn)
n.2067T>A
12g.12164392T>ACA383946528BCL2L14,LRP6c.1933A>T (p.Ile645Phe)
c.*25-22913T>A (n.*25-22913T>A)
c.1527A>T
c.1480A>T (p.Ile494Phe)
n.2066A>T
12g.12164392T>CCA383946529BCL2L14,LRP6c.1933A>G (p.Ile645Val)
c.*25-22913T>C (n.*25-22913T>C)
c.1527A>G
c.1480A>G (p.Ile494Val)
n.2066A>G
12g.12164392T>GCA383946530BCL2L14,LRP6c.1933A>C (p.Ile645Leu)
c.*25-22913T>G (n.*25-22913T>G)
c.1527A>C
c.1480A>C (p.Ile494Leu)
n.2066A>C
 COSMIC
12g.12164393T>ACA478660572BCL2L14,LRP6c.1932A>T (p.Arg644=)
c.*25-22912T>A (n.*25-22912T>A)
c.1526A>T
c.1479A>T (p.Arg493=)
n.2065A>T
 gnomAD v4
12g.12164393T>CCA478660571BCL2L14,LRP6c.1932A>G (p.Arg644=)
c.*25-22912T>C (n.*25-22912T>C)
c.1526A>G
c.1479A>G (p.Arg493=)
n.2065A>G
12g.12164393T>GCA478660570BCL2L14,LRP6c.1932A>C (p.Arg644=)
c.*25-22912T>G (n.*25-22912T>G)
c.1526A>C
c.1479A>C (p.Arg493=)
n.2065A>C
12g.12164394C>ACA383946532BCL2L14,LRP6c.1931G>T (p.Arg644Leu)
c.*25-22911C>A (n.*25-22911C>A)
c.1525G>T
c.1478G>T (p.Arg493Leu)
n.2064G>T
12g.12164394C>GCA383946533BCL2L14,LRP6c.1931G>C (p.Arg644Pro)
c.*25-22911C>G (n.*25-22911C>G)
c.1525G>C
c.1478G>C (p.Arg493Pro)
n.2064G>C
12g.12164394C>TCA383946531BCL2L14,LRP6c.1931G>A (p.Arg644Gln)
c.*25-22911C>T (n.*25-22911C>T)
c.1525G>A
c.1478G>A (p.Arg493Gln)
n.2064G>A
 gnomAD v4 COSMIC
12g.12164395G>ACA383946535BCL2L14,LRP6c.1930C>T (p.Arg644Ter)
c.*25-22910G>A (n.*25-22910G>A)
c.1524C>T
c.1477C>T (p.Arg493Ter)
n.2063C>T
 ClinVar gnomAD v4 COSMIC
12g.12164395G>CCA383946536BCL2L14,LRP6c.1930C>G (p.Arg644Gly)
c.*25-22910G>C (n.*25-22910G>C)
c.1524C>G
c.1477C>G (p.Arg493Gly)
n.2063C>G
 dbSNP gnomAD v2 gnomAD v4
12g.12164395G=CA2016783048BCL2L14,LRP6c.1930C= (p.Arg644=)
c.*25-22910G= (n.*25-22910G=)
c.1524C=
c.1477C= (p.Arg493=)
n.2063C=
12g.12164395G>TCA478660573BCL2L14,LRP6c.1930C>A (p.Arg644=)
c.*25-22910G>T (n.*25-22910G>T)
c.1524C>A
c.1477C>A (p.Arg493=)
n.2063C>A
12g.12164396T>ACA383946537BCL2L14,LRP6c.1929A>T (p.Arg643Ser)
c.*25-22909T>A (n.*25-22909T>A)
c.1523A>T
c.1476A>T (p.Arg492Ser)
n.2062A>T
 dbSNP
12g.12164396T>CCA478660574BCL2L14,LRP6c.1929A>G (p.Arg643=)
c.*25-22909T>C (n.*25-22909T>C)
c.1523A>G
c.1476A>G (p.Arg492=)
n.2062A>G
 gnomAD v3 gnomAD v4
12g.12164396T>GCA383946538BCL2L14,LRP6c.1929A>C (p.Arg643Ser)
c.*25-22909T>G (n.*25-22909T>G)
c.1523A>C
c.1476A>C (p.Arg492Ser)
n.2062A>C
12g.12164396T=CA2016783049BCL2L14,LRP6c.1929A= (p.Arg643=)
c.*25-22909T= (n.*25-22909T=)
c.1523A=
c.1476A= (p.Arg492=)
n.2062A=
12g.12164397C>ACA383946539BCL2L14,LRP6c.1928G>T (p.Arg643Ile)
c.*25-22908C>A (n.*25-22908C>A)
c.1522G>T
c.1475G>T (p.Arg492Ile)
n.2061G>T
12g.12164397C>GCA383946540BCL2L14,LRP6c.1928G>C (p.Arg643Thr)
c.*25-22908C>G (n.*25-22908C>G)
c.1522G>C
c.1475G>C (p.Arg492Thr)
n.2061G>C
12g.12164397C>TCA383946541BCL2L14,LRP6c.1928G>A (p.Arg643Lys)
c.*25-22908C>T (n.*25-22908C>T)
c.1522G>A
c.1475G>A (p.Arg492Lys)
n.2061G>A
12g.12164398T>ACA383946542BCL2L14,LRP6c.1927A>T (p.Arg643Ter)
c.*25-22907T>A (n.*25-22907T>A)
c.1521A>T
c.1474A>T (p.Arg492Ter)
n.2060A>T
12g.12164398T>CCA383946543BCL2L14,LRP6c.1927A>G (p.Arg643Gly)
c.*25-22907T>C (n.*25-22907T>C)
c.1521A>G
c.1474A>G (p.Arg492Gly)
n.2060A>G
12g.12164398T>GCA478660575BCL2L14,LRP6c.1927A>C (p.Arg643=)
c.*25-22907T>G (n.*25-22907T>G)
c.1521A>C
c.1474A>C (p.Arg492=)
n.2060A>C
12g.12164398dupCA2580615134BCL2L14,LRP6c.1927dup (p.Arg643LysfsTer10)
c.*25-22907dup (n.*25-22907dup)
c.1521dup
c.1474dup (p.Arg492LysfsTer10)
n.2060dup
 ClinVar
12g.12164399G>ACA478660577BCL2L14,LRP6c.1926C>T (p.Ile642=)
c.*25-22906G>A (n.*25-22906G>A)
c.1520C>T
c.1473C>T (p.Ile491=)
n.2059C>T
12g.12164399G>CCA383946544BCL2L14,LRP6c.1926C>G (p.Ile642Met)
c.*25-22906G>C (n.*25-22906G>C)
c.1520C>G
c.1473C>G (p.Ile491Met)
n.2059C>G
12g.12164399G>TCA478660576BCL2L14,LRP6c.1926C>A (p.Ile642=)
c.*25-22906G>T (n.*25-22906G>T)
c.1520C>A
c.1473C>A (p.Ile491=)
n.2059C>A
12g.12164400A>CCA383946545BCL2L14,LRP6c.1925T>G (p.Ile642Ser)
c.*25-22905A>C (n.*25-22905A>C)
c.1519T>G
c.1472T>G (p.Ile491Ser)
n.2058T>G
12g.12164400A>GCA383946546BCL2L14,LRP6c.1925T>C (p.Ile642Thr)
c.*25-22905A>G (n.*25-22905A>G)
c.1519T>C
c.1472T>C (p.Ile491Thr)
n.2058T>C
12g.12164400A>TCA383946547BCL2L14,LRP6c.1925T>A (p.Ile642Asn)
c.*25-22905A>T (n.*25-22905A>T)
c.1519T>A
c.1472T>A (p.Ile491Asn)
n.2058T>A
12g.12164401T>ACA383946549BCL2L14,LRP6c.1924A>T (p.Ile642Phe)
c.*25-22904T>A (n.*25-22904T>A)
c.1518A>T
c.1471A>T (p.Ile491Phe)
n.2057A>T
12g.12164401T>CCA232993127BCL2L14,LRP6c.1924A>G (p.Ile642Val)
c.*25-22904T>C (n.*25-22904T>C)
c.1518A>G
c.1471A>G (p.Ile491Val)
n.2057A>G
 dbSNP gnomAD v4
12g.12164401T>GCA383946548BCL2L14,LRP6c.1924A>C (p.Ile642Leu)
c.*25-22904T>G (n.*25-22904T>G)
c.1518A>C
c.1471A>C (p.Ile491Leu)
n.2057A>C
12g.12164401T=CA2016783050BCL2L14,LRP6c.1924A= (p.Ile642=)
c.*25-22904T= (n.*25-22904T=)
c.1518A=
c.1471A= (p.Ile491=)
n.2057A=
12g.12164401dupCA2695216095BCL2L14,LRP6c.1924dup (p.Ile642AsnfsTer11)
c.*25-22904dup (n.*25-22904dup)
c.1518dup
c.1471dup (p.Ile491AsnfsTer11)
n.2057dup
12g.12164402A=CA2016783051BCL2L14,LRP6c.1923T= (p.Asp641=)
c.*25-22903A= (n.*25-22903A=)
c.1517T=
c.1470T= (p.Asp490=)
n.2056T=
12g.12164402A>CCA383946550BCL2L14,LRP6c.1923T>G (p.Asp641Glu)
c.*25-22903A>C (n.*25-22903A>C)
c.1517T>G
c.1470T>G (p.Asp490Glu)
n.2056T>G
12g.12164402A>GCA478660578BCL2L14,LRP6c.1923T>C (p.Asp641=)
c.*25-22903A>G (n.*25-22903A>G)
c.1517T>C
c.1470T>C (p.Asp490=)
n.2056T>C
 dbSNP gnomAD v3 gnomAD v4
12g.12164402A>TCA383946551BCL2L14,LRP6c.1923T>A (p.Asp641Glu)
c.*25-22903A>T (n.*25-22903A>T)
c.1517T>A
c.1470T>A (p.Asp490Glu)
n.2056T>A
12g.12164403T>ACA6455564BCL2L14,LRP6c.1922A>T (p.Asp641Val)
c.*25-22902T>A (n.*25-22902T>A)
c.1516A>T
c.1469A>T (p.Asp490Val)
n.2055A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.12164403T>CCA383946552BCL2L14,LRP6c.1922A>G (p.Asp641Gly)
c.*25-22902T>C (n.*25-22902T>C)
c.1516A>G
c.1469A>G (p.Asp490Gly)
n.2055A>G
 gnomAD v4
12g.12164403T>GCA383946553BCL2L14,LRP6c.1922A>C (p.Asp641Ala)
c.*25-22902T>G (n.*25-22902T>G)
c.1516A>C
c.1469A>C (p.Asp490Ala)
n.2055A>C
12g.12164403T=CA2016783052BCL2L14,LRP6c.1922A= (p.Asp641=)
c.*25-22902T= (n.*25-22902T=)
c.1516A=
c.1469A= (p.Asp490=)
n.2055A=
12g.12164404C>ACA383946554BCL2L14,LRP6c.1921G>T (p.Asp641Tyr)
c.*25-22901C>A (n.*25-22901C>A)
c.1515G>T
c.1468G>T (p.Asp490Tyr)
n.2054G>T
12g.12164404C>GCA383946555BCL2L14,LRP6c.1921G>C (p.Asp641His)
c.*25-22901C>G (n.*25-22901C>G)
c.1515G>C
c.1468G>C (p.Asp490His)
n.2054G>C
12g.12164404C>TCA383946556BCL2L14,LRP6c.1921G>A (p.Asp641Asn)
c.*25-22901C>T (n.*25-22901C>T)
c.1515G>A
c.1468G>A (p.Asp490Asn)
n.2054G>A

Number of alleles fetched