Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.12164305del | CA944801804 | BCL2L14,LRP6 | c.2021del (p.Asn674ThrfsTer18) c.*25-23000del (n.*25-23000del) c.1615del c.1568del (p.Asn523ThrfsTer18) n.2154del | dbSNP gnomAD v3 gnomAD v4 |
12 | g.12164305T>A | CA383946339 | BCL2L14,LRP6 | c.2020A>T (p.Asn674Tyr) c.*25-23000T>A (n.*25-23000T>A) c.1614A>T c.1567A>T (p.Asn523Tyr) n.2153A>T | |
12 | g.12164305T>C | CA383946337 | BCL2L14,LRP6 | c.2020A>G (p.Asn674Asp) c.*25-23000T>C (n.*25-23000T>C) c.1614A>G c.1567A>G (p.Asn523Asp) n.2153A>G | |
12 | g.12164305T>G | CA383946338 | BCL2L14,LRP6 | c.2020A>C (p.Asn674His) c.*25-23000T>G (n.*25-23000T>G) c.1614A>C c.1567A>C (p.Asn523His) n.2153A>C | |
12 | g.12164306G>A | CA478660507 | BCL2L14,LRP6 | c.2019C>T (p.Asp673=) c.*25-22999G>A (n.*25-22999G>A) c.1613C>T c.1566C>T (p.Asp522=) n.2152C>T | |
12 | g.12164306G>C | CA383946340 | BCL2L14,LRP6 | c.2019C>G (p.Asp673Glu) c.*25-22999G>C (n.*25-22999G>C) c.1613C>G c.1566C>G (p.Asp522Glu) n.2152C>G | |
12 | g.12164306G>T | CA383946341 | BCL2L14,LRP6 | c.2019C>A (p.Asp673Glu) c.*25-22999G>T (n.*25-22999G>T) c.1613C>A c.1566C>A (p.Asp522Glu) n.2152C>A | |
12 | g.12164307T>A | CA383946342 | BCL2L14,LRP6 | c.2018A>T (p.Asp673Val) c.*25-22998T>A (n.*25-22998T>A) c.1612A>T c.1565A>T (p.Asp522Val) n.2151A>T | dbSNP |
12 | g.12164307T>C | CA383946343 | BCL2L14,LRP6 | c.2018A>G (p.Asp673Gly) c.*25-22998T>C (n.*25-22998T>C) c.1612A>G c.1565A>G (p.Asp522Gly) n.2151A>G | |
12 | g.12164307T>G | CA383946344 | BCL2L14,LRP6 | c.2018A>C (p.Asp673Ala) c.*25-22998T>G (n.*25-22998T>G) c.1612A>C c.1565A>C (p.Asp522Ala) n.2151A>C | |
12 | g.12164307T= | CA2016783019 | BCL2L14,LRP6 | c.2018A= (p.Asp673=) c.*25-22998T= (n.*25-22998T=) c.1612A= c.1565A= (p.Asp522=) n.2151A= | |
12 | g.12164308C>A | CA383946345 | BCL2L14,LRP6 | c.2017G>T (p.Asp673Tyr) c.*25-22997C>A (n.*25-22997C>A) c.1611G>T c.1564G>T (p.Asp522Tyr) n.2150G>T | |
12 | g.12164308C= | CA2016783020 | BCL2L14,LRP6 | c.2017G= (p.Asp673=) c.*25-22997C= (n.*25-22997C=) c.1611G= c.1564G= (p.Asp522=) n.2150G= | |
12 | g.12164308C>G | CA383946346 | BCL2L14,LRP6 | c.2017G>C (p.Asp673His) c.*25-22997C>G (n.*25-22997C>G) c.1611G>C c.1564G>C (p.Asp522His) n.2150G>C | |
12 | g.12164308C>T | CA383946347 | BCL2L14,LRP6 | c.2017G>A (p.Asp673Asn) c.*25-22997C>T (n.*25-22997C>T) c.1611G>A c.1564G>A (p.Asp522Asn) n.2150G>A | dbSNP |
12 | g.12164309T>A | CA478660509 | BCL2L14,LRP6 | c.2016A>T (p.Thr672=) c.*25-22996T>A (n.*25-22996T>A) c.1610A>T c.1563A>T (p.Thr521=) n.2149A>T | |
12 | g.12164309T>C | CA478660508 | BCL2L14,LRP6 | c.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 |
12 | g.12164309T>G | CA478660510 | BCL2L14,LRP6 | c.2016A>C (p.Thr672=) c.*25-22996T>G (n.*25-22996T>G) c.1610A>C c.1563A>C (p.Thr521=) n.2149A>C | |
12 | g.12164310G>A | CA383946348 | BCL2L14,LRP6 | c.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 |
12 | g.12164310G>C | CA383946349 | BCL2L14,LRP6 | c.2015C>G (p.Thr672Arg) c.*25-22995G>C (n.*25-22995G>C) c.1609C>G c.1562C>G (p.Thr521Arg) n.2148C>G | |
12 | g.12164310G= | CA2016783021 | BCL2L14,LRP6 | c.2015C= (p.Thr672=) c.*25-22995G= (n.*25-22995G=) c.1609C= c.1562C= (p.Thr521=) n.2148C= | |
12 | g.12164310G>T | CA383946350 | BCL2L14,LRP6 | c.2015C>A (p.Thr672Lys) c.*25-22995G>T (n.*25-22995G>T) c.1609C>A c.1562C>A (p.Thr521Lys) n.2148C>A | |
12 | g.12164311T>A | CA383946352 | BCL2L14,LRP6 | c.2014A>T (p.Thr672Ser) c.*25-22994T>A (n.*25-22994T>A) c.1608A>T c.1561A>T (p.Thr521Ser) n.2147A>T | |
12 | g.12164311T>C | CA383946353 | BCL2L14,LRP6 | c.2014A>G (p.Thr672Ala) c.*25-22994T>C (n.*25-22994T>C) c.1608A>G c.1561A>G (p.Thr521Ala) n.2147A>G | |
12 | g.12164311T>G | CA383946351 | BCL2L14,LRP6 | c.2014A>C (p.Thr672Pro) c.*25-22994T>G (n.*25-22994T>G) c.1608A>C c.1561A>C (p.Thr521Pro) n.2147A>C | |
12 | g.12164312C>A | CA478660511 | BCL2L14,LRP6 | c.2013G>T (p.Val671=) c.*25-22993C>A (n.*25-22993C>A) c.1607G>T c.1560G>T (p.Val520=) n.2146G>T | |
12 | g.12164312C>G | CA478660512 | BCL2L14,LRP6 | c.2013G>C (p.Val671=) c.*25-22993C>G (n.*25-22993C>G) c.1607G>C c.1560G>C (p.Val520=) n.2146G>C | |
12 | g.12164312C>T | CA478660513 | BCL2L14,LRP6 | c.2013G>A (p.Val671=) c.*25-22993C>T (n.*25-22993C>T) c.1607G>A c.1560G>A (p.Val520=) n.2146G>A | |
12 | g.12164313A= | CA2016783022 | BCL2L14,LRP6 | c.2012T= (p.Val671=) c.*25-22992A= (n.*25-22992A=) c.1606T= c.1559T= (p.Val520=) n.2145T= | |
12 | g.12164313A>C | CA383946354 | BCL2L14,LRP6 | c.2012T>G (p.Val671Gly) c.*25-22992A>C (n.*25-22992A>C) c.1606T>G c.1559T>G (p.Val520Gly) n.2145T>G | |
12 | g.12164313A>G | CA383946355 | BCL2L14,LRP6 | c.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 |
12 | g.12164313A>T | CA383946356 | BCL2L14,LRP6 | c.2012T>A (p.Val671Glu) c.*25-22992A>T (n.*25-22992A>T) c.1606T>A c.1559T>A (p.Val520Glu) n.2145T>A | |
12 | g.12164314C>A | CA383946357 | BCL2L14,LRP6 | c.2011G>T (p.Val671Leu) c.*25-22991C>A (n.*25-22991C>A) c.1605G>T c.1558G>T (p.Val520Leu) n.2144G>T | |
12 | g.12164314C= | CA2016783023 | BCL2L14,LRP6 | c.2011G= (p.Val671=) c.*25-22991C= (n.*25-22991C=) c.1605G= c.1558G= (p.Val520=) n.2144G= | |
12 | g.12164314C>G | CA383946358 | BCL2L14,LRP6 | c.2011G>C (p.Val671Leu) c.*25-22991C>G (n.*25-22991C>G) c.1605G>C c.1558G>C (p.Val520Leu) n.2144G>C | |
12 | g.12164314C>T | CA383946359 | BCL2L14,LRP6 | c.2011G>A (p.Val671Met) c.*25-22991C>T (n.*25-22991C>T) c.1605G>A c.1558G>A (p.Val520Met) n.2144G>A | dbSNP |
12 | g.12164315A= | CA2016783024 | BCL2L14,LRP6 | c.2010T= (p.Asp670=) c.*25-22990A= (n.*25-22990A=) c.1604T= c.1557T= (p.Asp519=) n.2143T= | |
12 | g.12164315A>C | CA383946360 | BCL2L14,LRP6 | c.2010T>G (p.Asp670Glu) c.*25-22990A>C (n.*25-22990A>C) c.1604T>G c.1557T>G (p.Asp519Glu) n.2143T>G | |
12 | g.12164315A>G | CA478660514 | BCL2L14,LRP6 | c.2010T>C (p.Asp670=) c.*25-22990A>G (n.*25-22990A>G) c.1604T>C c.1557T>C (p.Asp519=) n.2143T>C | |
12 | g.12164315A>T | CA6455557 | BCL2L14,LRP6 | c.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 |
12 | g.12164316T>A | CA383946361 | BCL2L14,LRP6 | c.2009A>T (p.Asp670Val) c.*25-22989T>A (n.*25-22989T>A) c.1603A>T c.1556A>T (p.Asp519Val) n.2142A>T | |
12 | g.12164316T>C | CA6455558 | BCL2L14,LRP6 | c.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 |
12 | g.12164316T>G | CA383946362 | BCL2L14,LRP6 | c.2009A>C (p.Asp670Ala) c.*25-22989T>G (n.*25-22989T>G) c.1603A>C c.1556A>C (p.Asp519Ala) n.2142A>C | |
12 | g.12164316T= | CA2016783025 | BCL2L14,LRP6 | c.2009A= (p.Asp670=) c.*25-22989T= (n.*25-22989T=) c.1603A= c.1556A= (p.Asp519=) n.2142A= | |
12 | g.12164317C>A | CA383946363 | BCL2L14,LRP6 | c.2008G>T (p.Asp670Tyr) c.*25-22988C>A (n.*25-22988C>A) c.1602G>T c.1555G>T (p.Asp519Tyr) n.2141G>T | |
12 | g.12164317C>G | CA383946364 | BCL2L14,LRP6 | c.2008G>C (p.Asp670His) c.*25-22988C>G (n.*25-22988C>G) c.1602G>C c.1555G>C (p.Asp519His) n.2141G>C | |
12 | g.12164317C>T | CA383946365 | BCL2L14,LRP6 | c.2008G>A (p.Asp670Asn) c.*25-22988C>T (n.*25-22988C>T) c.1602G>A c.1555G>A (p.Asp519Asn) n.2141G>A | |
12 | g.12164318A>C | CA383946366 | BCL2L14,LRP6 | c.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 |
12 | g.12164318A>G | CA478660515 | BCL2L14,LRP6 | c.2007T>C (p.Phe669=) c.*25-22987A>G (n.*25-22987A>G) c.1601T>C c.1554T>C (p.Phe518=) n.2140T>C | |
12 | g.12164318A>T | CA383946367 | BCL2L14,LRP6 | c.2007T>A (p.Phe669Leu) c.*25-22987A>T (n.*25-22987A>T) c.1601T>A c.1554T>A (p.Phe518Leu) n.2140T>A | |
12 | g.12164319A>C | CA383946368 | BCL2L14,LRP6 | c.2006T>G (p.Phe669Cys) c.*25-22986A>C (n.*25-22986A>C) c.1600T>G c.1553T>G (p.Phe518Cys) n.2139T>G | |
12 | g.12164319A>G | CA383946369 | BCL2L14,LRP6 | c.2006T>C (p.Phe669Ser) c.*25-22986A>G (n.*25-22986A>G) c.1600T>C c.1553T>C (p.Phe518Ser) n.2139T>C | |
12 | g.12164319A>T | CA383946370 | BCL2L14,LRP6 | c.2006T>A (p.Phe669Tyr) c.*25-22986A>T (n.*25-22986A>T) c.1600T>A c.1553T>A (p.Phe518Tyr) n.2139T>A | |
12 | g.12164320A= | CA2016783026 | BCL2L14,LRP6 | c.2005T= (p.Phe669=) c.*25-22985A= (n.*25-22985A=) c.1599T= c.1552T= (p.Phe518=) n.2138T= | |
12 | g.12164320A>C | CA383946371 | BCL2L14,LRP6 | c.2005T>G (p.Phe669Val) c.*25-22985A>C (n.*25-22985A>C) c.1599T>G c.1552T>G (p.Phe518Val) n.2138T>G | |
12 | g.12164320A>G | CA383946372 | BCL2L14,LRP6 | c.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 |
12 | g.12164320A>T | CA383946373 | BCL2L14,LRP6 | c.2005T>A (p.Phe669Ile) c.*25-22985A>T (n.*25-22985A>T) c.1599T>A c.1552T>A (p.Phe518Ile) n.2138T>A | |
12 | g.12164321A>C | CA383946374 | BCL2L14,LRP6 | c.2004T>G (p.Asp668Glu) c.*25-22984A>C (n.*25-22984A>C) c.1598T>G c.1551T>G (p.Asp517Glu) n.2137T>G | |
12 | g.12164321A>G | CA478660516 | BCL2L14,LRP6 | c.2004T>C (p.Asp668=) c.*25-22984A>G (n.*25-22984A>G) c.1598T>C c.1551T>C (p.Asp517=) n.2137T>C | |
12 | g.12164321A>T | CA383946375 | BCL2L14,LRP6 | c.2004T>A (p.Asp668Glu) c.*25-22984A>T (n.*25-22984A>T) c.1598T>A c.1551T>A (p.Asp517Glu) n.2137T>A | |
12 | g.12164322T>A | CA383946376 | BCL2L14,LRP6 | c.2003A>T (p.Asp668Val) c.*25-22983T>A (n.*25-22983T>A) c.1597A>T c.1550A>T (p.Asp517Val) n.2136A>T | |
12 | g.12164322T>C | CA383946377 | BCL2L14,LRP6 | c.2003A>G (p.Asp668Gly) c.*25-22983T>C (n.*25-22983T>C) c.1597A>G c.1550A>G (p.Asp517Gly) n.2136A>G | COSMIC |
12 | g.12164322T>G | CA383946378 | BCL2L14,LRP6 | c.2003A>C (p.Asp668Ala) c.*25-22983T>G (n.*25-22983T>G) c.1597A>C c.1550A>C (p.Asp517Ala) n.2136A>C | |
12 | g.12164323C>A | CA383946379 | BCL2L14,LRP6 | c.2002G>T (p.Asp668Tyr) c.*25-22982C>A (n.*25-22982C>A) c.1596G>T c.1549G>T (p.Asp517Tyr) n.2135G>T | |
12 | g.12164323C>G | CA383946380 | BCL2L14,LRP6 | c.2002G>C (p.Asp668His) c.*25-22982C>G (n.*25-22982C>G) c.1596G>C c.1549G>C (p.Asp517His) n.2135G>C | |
12 | g.12164323C>T | CA383946381 | BCL2L14,LRP6 | c.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 |
12 | g.12164324C>A | CA383946383 | BCL2L14,LRP6 | c.2001G>T (p.Leu667Phe) c.*25-22981C>A (n.*25-22981C>A) c.1595G>T c.1548G>T (p.Leu516Phe) n.2134G>T | |
12 | g.12164324C= | CA2016783027 | BCL2L14,LRP6 | c.2001G= (p.Leu667=) c.*25-22981C= (n.*25-22981C=) c.1595G= c.1548G= (p.Leu516=) n.2134G= | |
12 | g.12164324C>G | CA383946382 | BCL2L14,LRP6 | c.2001G>C (p.Leu667Phe) c.*25-22981C>G (n.*25-22981C>G) c.1595G>C c.1548G>C (p.Leu516Phe) n.2134G>C | |
12 | g.12164324C>T | CA478660517 | BCL2L14,LRP6 | c.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 |
12 | g.12164325A>C | CA383946384 | BCL2L14,LRP6 | c.2000T>G (p.Leu667Trp) c.*25-22980A>C (n.*25-22980A>C) c.1594T>G c.1547T>G (p.Leu516Trp) n.2133T>G | |
12 | g.12164325A>G | CA383946386 | BCL2L14,LRP6 | c.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 |
12 | g.12164325A>T | CA383946385 | BCL2L14,LRP6 | c.2000T>A (p.Leu667Ter) c.*25-22980A>T (n.*25-22980A>T) c.1594T>A c.1547T>A (p.Leu516Ter) n.2133T>A | |
12 | g.12164326A>C | CA383946387 | BCL2L14,LRP6 | c.1999T>G (p.Leu667Val) c.*25-22979A>C (n.*25-22979A>C) c.1593T>G c.1546T>G (p.Leu516Val) n.2132T>G | |
12 | g.12164326A>G | CA478660518 | BCL2L14,LRP6 | c.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 |
12 | g.12164326A>T | CA383946388 | BCL2L14,LRP6 | c.1999T>A (p.Leu667Met) c.*25-22979A>T (n.*25-22979A>T) c.1593T>A c.1546T>A (p.Leu516Met) n.2132T>A | |
12 | g.12164327A>C | CA478660519 | BCL2L14,LRP6 | c.1998T>G (p.Ala666=) c.*25-22978A>C (n.*25-22978A>C) c.1592T>G c.1545T>G (p.Ala515=) n.2131T>G | |
12 | g.12164327A>G | CA478660521 | BCL2L14,LRP6 | c.1998T>C (p.Ala666=) c.*25-22978A>G (n.*25-22978A>G) c.1592T>C c.1545T>C (p.Ala515=) n.2131T>C | |
12 | g.12164327A>T | CA478660520 | BCL2L14,LRP6 | c.1998T>A (p.Ala666=) c.*25-22978A>T (n.*25-22978A>T) c.1592T>A c.1545T>A (p.Ala515=) n.2131T>A | |
12 | g.12164327_12164328insCACACCCAAC | CA2794576580 | BCL2L14,LRP6 | c.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 | |
12 | g.12164328G>A | CA383946389 | BCL2L14,LRP6 | c.1997C>T (p.Ala666Val) c.*25-22977G>A (n.*25-22977G>A) c.1591C>T c.1544C>T (p.Ala515Val) n.2130C>T | |
12 | g.12164328G>C | CA383946390 | BCL2L14,LRP6 | c.1997C>G (p.Ala666Gly) c.*25-22977G>C (n.*25-22977G>C) c.1591C>G c.1544C>G (p.Ala515Gly) n.2130C>G | |
12 | g.12164328G>T | CA383946391 | BCL2L14,LRP6 | c.1997C>A (p.Ala666Asp) c.*25-22977G>T (n.*25-22977G>T) c.1591C>A c.1544C>A (p.Ala515Asp) n.2130C>A | |
12 | g.12164329C>A | CA383946394 | BCL2L14,LRP6 | c.1996G>T (p.Ala666Ser) c.*25-22976C>A (n.*25-22976C>A) c.1590G>T c.1543G>T (p.Ala515Ser) n.2129G>T | |
12 | g.12164329C>G | CA383946393 | BCL2L14,LRP6 | c.1996G>C (p.Ala666Pro) c.*25-22976C>G (n.*25-22976C>G) c.1590G>C c.1543G>C (p.Ala515Pro) n.2129G>C | |
12 | g.12164329C>T | CA383946392 | BCL2L14,LRP6 | c.1996G>A (p.Ala666Thr) c.*25-22976C>T (n.*25-22976C>T) c.1590G>A c.1543G>A (p.Ala515Thr) n.2129G>A | |
12 | g.12164330A>C | CA478660522 | BCL2L14,LRP6 | c.1995T>G (p.Ser665=) c.*25-22975A>C (n.*25-22975A>C) c.1589T>G c.1542T>G (p.Ser514=) n.2128T>G | |
12 | g.12164330A>G | CA478660523 | BCL2L14,LRP6 | c.1995T>C (p.Ser665=) c.*25-22975A>G (n.*25-22975A>G) c.1589T>C c.1542T>C (p.Ser514=) n.2128T>C | |
12 | g.12164330A>T | CA478660524 | BCL2L14,LRP6 | c.1995T>A (p.Ser665=) c.*25-22975A>T (n.*25-22975A>T) c.1589T>A c.1542T>A (p.Ser514=) n.2128T>A | |
12 | g.12164331G>A | CA383946395 | BCL2L14,LRP6 | c.1994C>T (p.Ser665Phe) c.*25-22974G>A (n.*25-22974G>A) c.1588C>T c.1541C>T (p.Ser514Phe) n.2127C>T | dbSNP |
12 | g.12164331G>C | CA383946396 | BCL2L14,LRP6 | c.1994C>G (p.Ser665Cys) c.*25-22974G>C (n.*25-22974G>C) c.1588C>G c.1541C>G (p.Ser514Cys) n.2127C>G | |
12 | g.12164331G= | CA2016783028 | BCL2L14,LRP6 | c.1994C= (p.Ser665=) c.*25-22974G= (n.*25-22974G=) c.1588C= c.1541C= (p.Ser514=) n.2127C= | |
12 | g.12164331G>T | CA383946397 | BCL2L14,LRP6 | c.1994C>A (p.Ser665Tyr) c.*25-22974G>T (n.*25-22974G>T) c.1588C>A c.1541C>A (p.Ser514Tyr) n.2127C>A | |
12 | g.12164332A= | CA2016783029 | BCL2L14,LRP6 | c.1993T= (p.Ser665=) c.*25-22973A= (n.*25-22973A=) c.1587T= c.1540T= (p.Ser514=) n.2126T= | |
12 | g.12164332A>C | CA383946398 | BCL2L14,LRP6 | c.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 |
12 | g.12164332A>G | CA383946399 | BCL2L14,LRP6 | c.1993T>C (p.Ser665Pro) c.*25-22973A>G (n.*25-22973A>G) c.1587T>C c.1540T>C (p.Ser514Pro) n.2126T>C | |
12 | g.12164332A>T | CA383946400 | BCL2L14,LRP6 | c.1993T>A (p.Ser665Thr) c.*25-22973A>T (n.*25-22973A>T) c.1587T>A c.1540T>A (p.Ser514Thr) n.2126T>A | |
12 | g.12164333A>C | CA478660525 | BCL2L14,LRP6 | c.1992T>G (p.Ala664=) c.*25-22972A>C (n.*25-22972A>C) c.1586T>G c.1539T>G (p.Ala513=) n.2125T>G | |
12 | g.12164333A>G | CA478660526 | BCL2L14,LRP6 | c.1992T>C (p.Ala664=) c.*25-22972A>G (n.*25-22972A>G) c.1586T>C c.1539T>C (p.Ala513=) n.2125T>C | |
12 | g.12164333A>T | CA478660527 | BCL2L14,LRP6 | c.1992T>A (p.Ala664=) c.*25-22972A>T (n.*25-22972A>T) c.1586T>A c.1539T>A (p.Ala513=) n.2125T>A | COSMIC |
12 | g.12164334G>A | CA383946401 | BCL2L14,LRP6 | c.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 |
12 | g.12164334G>C | CA383946403 | BCL2L14,LRP6 | c.1991C>G (p.Ala664Gly) c.*25-22971G>C (n.*25-22971G>C) c.1585C>G c.1538C>G (p.Ala513Gly) n.2124C>G | |
12 | g.12164334G= | CA2016783030 | BCL2L14,LRP6 | c.1991C= (p.Ala664=) c.*25-22971G= (n.*25-22971G=) c.1585C= c.1538C= (p.Ala513=) n.2124C= | |
12 | g.12164334G>T | CA383946402 | BCL2L14,LRP6 | c.1991C>A (p.Ala664Asp) c.*25-22971G>T (n.*25-22971G>T) c.1585C>A c.1538C>A (p.Ala513Asp) n.2124C>A | |
12 | g.12164335C>A | CA383946404 | BCL2L14,LRP6 | c.1990G>T (p.Ala664Ser) c.*25-22970C>A (n.*25-22970C>A) c.1584G>T c.1537G>T (p.Ala513Ser) n.2123G>T | |
12 | g.12164335C= | CA2016783031 | BCL2L14,LRP6 | c.1990G= (p.Ala664=) c.*25-22970C= (n.*25-22970C=) c.1584G= c.1537G= (p.Ala513=) n.2123G= | |
12 | g.12164335C>G | CA383946405 | BCL2L14,LRP6 | c.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 |
12 | g.12164335C>T | CA383946406 | BCL2L14,LRP6 | c.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 |
12 | g.12164336T>A | CA383946407 | BCL2L14,LRP6 | c.1989A>T (p.Glu663Asp) c.*25-22969T>A (n.*25-22969T>A) c.1583A>T c.1536A>T (p.Glu512Asp) n.2122A>T | |
12 | g.12164336T>C | CA478660531 | BCL2L14,LRP6 | c.1989A>G (p.Glu663=) c.*25-22969T>C (n.*25-22969T>C) c.1583A>G c.1536A>G (p.Glu512=) n.2122A>G | |
12 | g.12164336T>G | CA383946408 | BCL2L14,LRP6 | c.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 |
12 | g.12164336T= | CA2016783032 | BCL2L14,LRP6 | c.1989A= (p.Glu663=) c.*25-22969T= (n.*25-22969T=) c.1583A= c.1536A= (p.Glu512=) n.2122A= | |
12 | g.12164337T>A | CA383946409 | BCL2L14,LRP6 | c.1988A>T (p.Glu663Val) c.*25-22968T>A (n.*25-22968T>A) c.1582A>T c.1535A>T (p.Glu512Val) n.2121A>T | |
12 | g.12164337T>C | CA383946410 | BCL2L14,LRP6 | c.1988A>G (p.Glu663Gly) c.*25-22968T>C (n.*25-22968T>C) c.1582A>G c.1535A>G (p.Glu512Gly) n.2121A>G | |
12 | g.12164337T>G | CA383946411 | BCL2L14,LRP6 | c.1988A>C (p.Glu663Ala) c.*25-22968T>G (n.*25-22968T>G) c.1582A>C c.1535A>C (p.Glu512Ala) n.2121A>C | |
12 | g.12164338C>A | CA383946412 | BCL2L14,LRP6 | c.1987G>T (p.Glu663Ter) c.*25-22967C>A (n.*25-22967C>A) c.1581G>T c.1534G>T (p.Glu512Ter) n.2120G>T | |
12 | g.12164338C>G | CA383946413 | BCL2L14,LRP6 | c.1987G>C (p.Glu663Gln) c.*25-22967C>G (n.*25-22967C>G) c.1581G>C c.1534G>C (p.Glu512Gln) n.2120G>C | |
12 | g.12164338C>T | CA383946414 | BCL2L14,LRP6 | c.1987G>A (p.Glu663Lys) c.*25-22967C>T (n.*25-22967C>T) c.1581G>A c.1534G>A (p.Glu512Lys) n.2120G>A | |
12 | g.12164338_12164339delinsCT | CA2016783033 | BCL2L14,LRP6 | c.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 | |
12 | g.12164339T>A | CA383946416 | BCL2L14,LRP6 | c.1986A>T (p.Lys662Asn) c.*25-22966T>A (n.*25-22966T>A) c.1580A>T c.1533A>T (p.Lys511Asn) n.2119A>T | |
12 | g.12164339T>C | CA478660532 | BCL2L14,LRP6 | c.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 |
12 | g.12164339T>G | CA383946415 | BCL2L14,LRP6 | c.1986A>C (p.Lys662Asn) c.*25-22966T>G (n.*25-22966T>G) c.1580A>C c.1533A>C (p.Lys511Asn) n.2119A>C | |
12 | g.12164341del | CA232993088 | BCL2L14,LRP6 | c.1986del (p.Glu663LysfsTer9) c.*25-22964del (n.*25-22964del) c.1580del c.1533del (p.Glu512LysfsTer9) n.2119del | dbSNP gnomAD v3 gnomAD v4 |
12 | g.12164340T>A | CA383946417 | BCL2L14,LRP6 | c.1985A>T (p.Lys662Ile) c.*25-22965T>A (n.*25-22965T>A) c.1579A>T c.1532A>T (p.Lys511Ile) n.2118A>T | |
12 | g.12164340T>C | CA383946418 | BCL2L14,LRP6 | c.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 |
12 | g.12164340T>G | CA383946419 | BCL2L14,LRP6 | c.1985A>C (p.Lys662Thr) c.*25-22965T>G (n.*25-22965T>G) c.1579A>C c.1532A>C (p.Lys511Thr) n.2118A>C | |
12 | g.12164341T>A | CA383946420 | BCL2L14,LRP6 | c.1984A>T (p.Lys662Ter) c.*25-22964T>A (n.*25-22964T>A) c.1578A>T c.1531A>T (p.Lys511Ter) n.2117A>T | |
12 | g.12164341T>C | CA383946421 | BCL2L14,LRP6 | c.1984A>G (p.Lys662Glu) c.*25-22964T>C (n.*25-22964T>C) c.1578A>G c.1531A>G (p.Lys511Glu) n.2117A>G | |
12 | g.12164341T>G | CA383946422 | BCL2L14,LRP6 | c.1984A>C (p.Lys662Gln) c.*25-22964T>G (n.*25-22964T>G) c.1578A>C c.1531A>C (p.Lys511Gln) n.2117A>C | |
12 | g.12164342G>A | CA478660534 | BCL2L14,LRP6 | c.1983C>T (p.Val661=) c.*25-22963G>A (n.*25-22963G>A) c.1577C>T c.1530C>T (p.Val510=) n.2116C>T | |
12 | g.12164342G>C | CA6455559 | BCL2L14,LRP6 | c.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 |
12 | g.12164342G= | CA2016783034 | BCL2L14,LRP6 | c.1983C= (p.Val661=) c.*25-22963G= (n.*25-22963G=) c.1577C= c.1530C= (p.Val510=) n.2116C= | |
12 | g.12164342G>T | CA478660533 | BCL2L14,LRP6 | c.1983C>A (p.Val661=) c.*25-22963G>T (n.*25-22963G>T) c.1577C>A c.1530C>A (p.Val510=) n.2116C>A | |
12 | g.12164343A>C | CA383946423 | BCL2L14,LRP6 | c.1982T>G (p.Val661Gly) c.*25-22962A>C (n.*25-22962A>C) c.1576T>G c.1529T>G (p.Val510Gly) n.2115T>G | |
12 | g.12164343A>G | CA383946424 | BCL2L14,LRP6 | c.1982T>C (p.Val661Ala) c.*25-22962A>G (n.*25-22962A>G) c.1576T>C c.1529T>C (p.Val510Ala) n.2115T>C | |
12 | g.12164343A>T | CA383946425 | BCL2L14,LRP6 | c.1982T>A (p.Val661Asp) c.*25-22962A>T (n.*25-22962A>T) c.1576T>A c.1529T>A (p.Val510Asp) n.2115T>A | |
12 | g.12164344C>A | CA383946426 | BCL2L14,LRP6 | c.1981G>T (p.Val661Phe) c.*25-22961C>A (n.*25-22961C>A) c.1575G>T c.1528G>T (p.Val510Phe) n.2114G>T | |
12 | g.12164344C>G | CA383946427 | BCL2L14,LRP6 | c.1981G>C (p.Val661Leu) c.*25-22961C>G (n.*25-22961C>G) c.1575G>C c.1528G>C (p.Val510Leu) n.2114G>C | |
12 | g.12164344C>T | CA383946428 | BCL2L14,LRP6 | c.1981G>A (p.Val661Ile) c.*25-22961C>T (n.*25-22961C>T) c.1575G>A c.1528G>A (p.Val510Ile) n.2114G>A | |
12 | g.12164345A>C | CA478660535 | BCL2L14,LRP6 | c.1980T>G (p.Gly660=) c.*25-22960A>C (n.*25-22960A>C) c.1574T>G c.1527T>G (p.Gly509=) n.2113T>G | |
12 | g.12164345A>G | CA478660536 | BCL2L14,LRP6 | c.1980T>C (p.Gly660=) c.*25-22960A>G (n.*25-22960A>G) c.1574T>C c.1527T>C (p.Gly509=) n.2113T>C | |
12 | g.12164345A>T | CA478660537 | BCL2L14,LRP6 | c.1980T>A (p.Gly660=) c.*25-22960A>T (n.*25-22960A>T) c.1574T>A c.1527T>A (p.Gly509=) n.2113T>A | |
12 | g.12164346C>A | CA383946431 | BCL2L14,LRP6 | c.1979G>T (p.Gly660Val) c.*25-22959C>A (n.*25-22959C>A) c.1573G>T c.1526G>T (p.Gly509Val) n.2112G>T | |
12 | g.12164346C>G | CA383946429 | BCL2L14,LRP6 | c.1979G>C (p.Gly660Ala) c.*25-22959C>G (n.*25-22959C>G) c.1573G>C c.1526G>C (p.Gly509Ala) n.2112G>C | |
12 | g.12164346C>T | CA383946430 | BCL2L14,LRP6 | c.1979G>A (p.Gly660Asp) c.*25-22959C>T (n.*25-22959C>T) c.1573G>A c.1526G>A (p.Gly509Asp) n.2112G>A | |
12 | g.12164347C>A | CA383946432 | BCL2L14,LRP6 | c.1978G>T (p.Gly660Cys) c.*25-22958C>A (n.*25-22958C>A) c.1572G>T c.1525G>T (p.Gly509Cys) n.2111G>T | |
12 | g.12164347C>G | CA383946433 | BCL2L14,LRP6 | c.1978G>C (p.Gly660Arg) c.*25-22958C>G (n.*25-22958C>G) c.1572G>C c.1525G>C (p.Gly509Arg) n.2111G>C | |
12 | g.12164347C>T | CA383946434 | BCL2L14,LRP6 | c.1978G>A (p.Gly660Ser) c.*25-22958C>T (n.*25-22958C>T) c.1572G>A c.1525G>A (p.Gly509Ser) n.2111G>A | |
12 | g.12164348A>C | CA478660538 | BCL2L14,LRP6 | c.1977T>G (p.Thr659=) c.*25-22957A>C (n.*25-22957A>C) c.1571T>G c.1524T>G (p.Thr508=) n.2110T>G | |
12 | g.12164348A>G | CA478660539 | BCL2L14,LRP6 | c.1977T>C (p.Thr659=) c.*25-22957A>G (n.*25-22957A>G) c.1571T>C c.1524T>C (p.Thr508=) n.2110T>C | |
12 | g.12164348A>T | CA478660540 | BCL2L14,LRP6 | c.1977T>A (p.Thr659=) c.*25-22957A>T (n.*25-22957A>T) c.1571T>A c.1524T>A (p.Thr508=) n.2110T>A | |
12 | g.12164349G>A | CA383946435 | BCL2L14,LRP6 | c.1976C>T (p.Thr659Ile) c.*25-22956G>A (n.*25-22956G>A) c.1570C>T c.1523C>T (p.Thr508Ile) n.2109C>T | |
12 | g.12164349G>C | CA383946436 | BCL2L14,LRP6 | c.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 |
12 | g.12164349G>T | CA383946437 | BCL2L14,LRP6 | c.1976C>A (p.Thr659Asn) c.*25-22956G>T (n.*25-22956G>T) c.1570C>A c.1523C>A (p.Thr508Asn) n.2109C>A | |
12 | g.12164350T>A | CA383946438 | BCL2L14,LRP6 | c.1975A>T (p.Thr659Ser) c.*25-22955T>A (n.*25-22955T>A) c.1569A>T c.1522A>T (p.Thr508Ser) n.2108A>T | |
12 | g.12164350T>C | CA383946439 | BCL2L14,LRP6 | c.1975A>G (p.Thr659Ala) c.*25-22955T>C (n.*25-22955T>C) c.1569A>G c.1522A>G (p.Thr508Ala) n.2108A>G | |
12 | g.12164350T>G | CA383946440 | BCL2L14,LRP6 | c.1975A>C (p.Thr659Pro) c.*25-22955T>G (n.*25-22955T>G) c.1569A>C c.1522A>C (p.Thr508Pro) n.2108A>C | |
12 | g.12164351G>A | CA478660541 | BCL2L14,LRP6 | c.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 |
12 | g.12164351G>C | CA478660543 | BCL2L14,LRP6 | c.1974C>G (p.Leu658=) c.*25-22954G>C (n.*25-22954G>C) c.1568C>G c.1521C>G (p.Leu507=) n.2107C>G | |
12 | g.12164351G>T | CA478660542 | BCL2L14,LRP6 | c.1974C>A (p.Leu658=) c.*25-22954G>T (n.*25-22954G>T) c.1568C>A c.1521C>A (p.Leu507=) n.2107C>A | |
12 | g.12164352A>C | CA383946441 | BCL2L14,LRP6 | c.1973T>G (p.Leu658Arg) c.*25-22953A>C (n.*25-22953A>C) c.1567T>G c.1520T>G (p.Leu507Arg) n.2106T>G | |
12 | g.12164352A>G | CA383946442 | BCL2L14,LRP6 | c.1973T>C (p.Leu658Pro) c.*25-22953A>G (n.*25-22953A>G) c.1567T>C c.1520T>C (p.Leu507Pro) n.2106T>C | |
12 | g.12164352A>T | CA383946443 | BCL2L14,LRP6 | c.1973T>A (p.Leu658His) c.*25-22953A>T (n.*25-22953A>T) c.1567T>A c.1520T>A (p.Leu507His) n.2106T>A | |
12 | g.12164353G>A | CA383946444 | BCL2L14,LRP6 | c.1972C>T (p.Leu658Phe) c.*25-22952G>A (n.*25-22952G>A) c.1566C>T c.1519C>T (p.Leu507Phe) n.2105C>T | |
12 | g.12164353G>C | CA383946446 | BCL2L14,LRP6 | c.1972C>G (p.Leu658Val) c.*25-22952G>C (n.*25-22952G>C) c.1566C>G c.1519C>G (p.Leu507Val) n.2105C>G | |
12 | g.12164353G>T | CA383946445 | BCL2L14,LRP6 | c.1972C>A (p.Leu658Ile) c.*25-22952G>T (n.*25-22952G>T) c.1566C>A c.1519C>A (p.Leu507Ile) n.2105C>A | |
12 | g.12164354T>A | CA478660544 | BCL2L14,LRP6 | c.1971A>T (p.Pro657=) c.*25-22951T>A (n.*25-22951T>A) c.1565A>T c.1518A>T (p.Pro506=) n.2104A>T | |
12 | g.12164354T>C | CA478660545 | BCL2L14,LRP6 | c.1971A>G (p.Pro657=) c.*25-22951T>C (n.*25-22951T>C) c.1565A>G c.1518A>G (p.Pro506=) n.2104A>G | ClinVar |
12 | g.12164354T>G | CA478660546 | BCL2L14,LRP6 | c.1971A>C (p.Pro657=) c.*25-22951T>G (n.*25-22951T>G) c.1565A>C c.1518A>C (p.Pro506=) n.2104A>C | |
12 | g.12164355G>A | CA383946447 | BCL2L14,LRP6 | c.1970C>T (p.Pro657Leu) c.*25-22950G>A (n.*25-22950G>A) c.1564C>T c.1517C>T (p.Pro506Leu) n.2103C>T | COSMIC |
12 | g.12164355G>C | CA383946449 | BCL2L14,LRP6 | c.1970C>G (p.Pro657Arg) c.*25-22950G>C (n.*25-22950G>C) c.1564C>G c.1517C>G (p.Pro506Arg) n.2103C>G | |
12 | g.12164355G>T | CA383946448 | BCL2L14,LRP6 | c.1970C>A (p.Pro657Gln) c.*25-22950G>T (n.*25-22950G>T) c.1564C>A c.1517C>A (p.Pro506Gln) n.2103C>A | |
12 | g.12164356G>A | CA383946450 | BCL2L14,LRP6 | c.1969C>T (p.Pro657Ser) c.*25-22949G>A (n.*25-22949G>A) c.1563C>T c.1516C>T (p.Pro506Ser) n.2102C>T | |
12 | g.12164356G>C | CA383946451 | BCL2L14,LRP6 | c.1969C>G (p.Pro657Ala) c.*25-22949G>C (n.*25-22949G>C) c.1563C>G c.1516C>G (p.Pro506Ala) n.2102C>G | |
12 | g.12164356G>T | CA383946452 | BCL2L14,LRP6 | c.1969C>A (p.Pro657Thr) c.*25-22949G>T (n.*25-22949G>T) c.1563C>A c.1516C>A (p.Pro506Thr) n.2102C>A | |
12 | g.12164357A= | CA2016783035 | BCL2L14,LRP6 | c.1968T= (p.Ile656=) c.*25-22948A= (n.*25-22948A=) c.1562T= c.1515T= (p.Ile505=) n.2101T= | |
12 | g.12164357A>C | CA383946453 | BCL2L14,LRP6 | c.1968T>G (p.Ile656Met) c.*25-22948A>C (n.*25-22948A>C) c.1562T>G c.1515T>G (p.Ile505Met) n.2101T>G | |
12 | g.12164357A>G | CA478660547 | BCL2L14,LRP6 | c.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 |
12 | g.12164357A>T | CA6455560 | BCL2L14,LRP6 | c.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 |
12 | g.12164358A>C | CA383946454 | BCL2L14,LRP6 | c.1967T>G (p.Ile656Ser) c.*25-22947A>C (n.*25-22947A>C) c.1561T>G c.1514T>G (p.Ile505Ser) n.2100T>G | |
12 | g.12164358A>G | CA383946455 | BCL2L14,LRP6 | c.1967T>C (p.Ile656Thr) c.*25-22947A>G (n.*25-22947A>G) c.1561T>C c.1514T>C (p.Ile505Thr) n.2100T>C | |
12 | g.12164358A>T | CA383946456 | BCL2L14,LRP6 | c.1967T>A (p.Ile656Asn) c.*25-22947A>T (n.*25-22947A>T) c.1561T>A c.1514T>A (p.Ile505Asn) n.2100T>A | |
12 | g.12164359T>A | CA383946457 | BCL2L14,LRP6 | c.1966A>T (p.Ile656Phe) c.*25-22946T>A (n.*25-22946T>A) c.1560A>T c.1513A>T (p.Ile505Phe) n.2099A>T | |
12 | g.12164359T>C | CA6455561 | BCL2L14,LRP6 | c.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 |
12 | g.12164359T>G | CA383946458 | BCL2L14,LRP6 | c.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 |
12 | g.12164359T= | CA2016783036 | BCL2L14,LRP6 | c.1966A= (p.Ile656=) c.*25-22946T= (n.*25-22946T=) c.1560A= c.1513A= (p.Ile505=) n.2099A= | |
12 | g.12164360A>C | CA478660548 | BCL2L14,LRP6 | c.1965T>G (p.Ala655=) c.*25-22945A>C (n.*25-22945A>C) c.1559T>G c.1512T>G (p.Ala504=) n.2098T>G | COSMIC |
12 | g.12164360A>G | CA478660549 | BCL2L14,LRP6 | c.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 |
12 | g.12164360A>T | CA478660550 | BCL2L14,LRP6 | c.1965T>A (p.Ala655=) c.*25-22945A>T (n.*25-22945A>T) c.1559T>A c.1512T>A (p.Ala504=) n.2098T>A | |
12 | g.12164361G>A | CA383946461 | BCL2L14,LRP6 | c.1964C>T (p.Ala655Val) c.*25-22944G>A (n.*25-22944G>A) c.1558C>T c.1511C>T (p.Ala504Val) n.2097C>T | |
12 | g.12164361G>C | CA383946460 | BCL2L14,LRP6 | c.1964C>G (p.Ala655Gly) c.*25-22944G>C (n.*25-22944G>C) c.1558C>G c.1511C>G (p.Ala504Gly) n.2097C>G | |
12 | g.12164361G>T | CA383946459 | BCL2L14,LRP6 | c.1964C>A (p.Ala655Asp) c.*25-22944G>T (n.*25-22944G>T) c.1558C>A c.1511C>A (p.Ala504Asp) n.2097C>A | |
12 | g.12164362C>A | CA383946462 | BCL2L14,LRP6 | c.1963G>T (p.Ala655Ser) c.*25-22943C>A (n.*25-22943C>A) c.1557G>T c.1510G>T (p.Ala504Ser) n.2096G>T | dbSNP |
12 | g.12164362C>G | CA383946463 | BCL2L14,LRP6 | c.1963G>C (p.Ala655Pro) c.*25-22943C>G (n.*25-22943C>G) c.1557G>C c.1510G>C (p.Ala504Pro) n.2096G>C | |
12 | g.12164362C>T | CA383946464 | BCL2L14,LRP6 | c.1963G>A (p.Ala655Thr) c.*25-22943C>T (n.*25-22943C>T) c.1557G>A c.1510G>A (p.Ala504Thr) n.2096G>A | |
12 | g.12164363C>A | CA478660551 | BCL2L14,LRP6 | c.1962G>T (p.Val654=) c.*25-22942C>A (n.*25-22942C>A) c.1556G>T c.1509G>T (p.Val503=) n.2095G>T | |
12 | g.12164363C= | CA2016783037 | BCL2L14,LRP6 | c.1962G= (p.Val654=) c.*25-22942C= (n.*25-22942C=) c.1556G= c.1509G= (p.Val503=) n.2095G= | |
12 | g.12164363C>G | CA478660552 | BCL2L14,LRP6 | c.1962G>C (p.Val654=) c.*25-22942C>G (n.*25-22942C>G) c.1556G>C c.1509G>C (p.Val503=) n.2095G>C | |
12 | g.12164363C>T | CA232993106 | BCL2L14,LRP6 | c.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 |
12 | g.12164364A>C | CA383946465 | BCL2L14,LRP6 | c.1961T>G (p.Val654Gly) c.*25-22941A>C (n.*25-22941A>C) c.1555T>G c.1508T>G (p.Val503Gly) n.2094T>G | |
12 | g.12164364A>G | CA383946466 | BCL2L14,LRP6 | c.1961T>C (p.Val654Ala) c.*25-22941A>G (n.*25-22941A>G) c.1555T>C c.1508T>C (p.Val503Ala) n.2094T>C | |
12 | g.12164364A>T | CA383946467 | BCL2L14,LRP6 | c.1961T>A (p.Val654Glu) c.*25-22941A>T (n.*25-22941A>T) c.1555T>A c.1508T>A (p.Val503Glu) n.2094T>A | |
12 | g.12164365C>A | CA383946468 | BCL2L14,LRP6 | c.1960G>T (p.Val654Leu) c.*25-22940C>A (n.*25-22940C>A) c.1554G>T c.1507G>T (p.Val503Leu) n.2093G>T | |
12 | g.12164365C= | CA2016783038 | BCL2L14,LRP6 | c.1960G= (p.Val654=) c.*25-22940C= (n.*25-22940C=) c.1554G= c.1507G= (p.Val503=) n.2093G= | |
12 | g.12164365C>G | CA383946469 | BCL2L14,LRP6 | c.1960G>C (p.Val654Leu) c.*25-22940C>G (n.*25-22940C>G) c.1554G>C c.1507G>C (p.Val503Leu) n.2093G>C | |
12 | g.12164365C>T | CA6455562 | BCL2L14,LRP6 | c.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 |
12 | g.12164366A= | CA2016783039 | BCL2L14,LRP6 | c.1959T= (p.Asn653=) c.*25-22939A= (n.*25-22939A=) c.1553T= c.1506T= (p.Asn502=) n.2092T= | |
12 | g.12164366A>C | CA383946470 | BCL2L14,LRP6 | c.1959T>G (p.Asn653Lys) c.*25-22939A>C (n.*25-22939A>C) c.1553T>G c.1506T>G (p.Asn502Lys) n.2092T>G | |
12 | g.12164366A>G | CA478660553 | BCL2L14,LRP6 | c.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 |
12 | g.12164366A>T | CA383946471 | BCL2L14,LRP6 | c.1959T>A (p.Asn653Lys) c.*25-22939A>T (n.*25-22939A>T) c.1553T>A c.1506T>A (p.Asn502Lys) n.2092T>A | |
12 | g.12164372_12164374del | CA2617689650 | BCL2L14,LRP6 | c.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 |
12 | g.12164367T>A | CA383946474 | BCL2L14,LRP6 | c.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 |
12 | g.12164367T>C | CA383946473 | BCL2L14,LRP6 | c.1958A>G (p.Asn653Ser) c.*25-22938T>C (n.*25-22938T>C) c.1552A>G c.1505A>G (p.Asn502Ser) n.2091A>G | |
12 | g.12164367T>G | CA383946472 | BCL2L14,LRP6 | c.1958A>C (p.Asn653Thr) c.*25-22938T>G (n.*25-22938T>G) c.1552A>C c.1505A>C (p.Asn502Thr) n.2091A>C | |
12 | g.12164368T>A | CA383946475 | BCL2L14,LRP6 | c.1957A>T (p.Asn653Tyr) c.*25-22937T>A (n.*25-22937T>A) c.1551A>T c.1504A>T (p.Asn502Tyr) n.2090A>T | |
12 | g.12164368T>C | CA383946476 | BCL2L14,LRP6 | c.1957A>G (p.Asn653Asp) c.*25-22937T>C (n.*25-22937T>C) c.1551A>G c.1504A>G (p.Asn502Asp) n.2090A>G | |
12 | g.12164368T>G | CA383946477 | BCL2L14,LRP6 | c.1957A>C (p.Asn653His) c.*25-22937T>G (n.*25-22937T>G) c.1551A>C c.1504A>C (p.Asn502His) n.2090A>C | |
12 | g.12164369A>C | CA383946478 | BCL2L14,LRP6 | c.1956T>G (p.Asn652Lys) c.*25-22936A>C (n.*25-22936A>C) c.1550T>G c.1503T>G (p.Asn501Lys) n.2089T>G | |
12 | g.12164369A>G | CA478660554 | BCL2L14,LRP6 | c.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 |
12 | g.12164369A>T | CA383946479 | BCL2L14,LRP6 | c.1956T>A (p.Asn652Lys) c.*25-22936A>T (n.*25-22936A>T) c.1550T>A c.1503T>A (p.Asn501Lys) n.2089T>A | |
12 | g.12164370T>A | CA383946480 | BCL2L14,LRP6 | c.1955A>T (p.Asn652Ile) c.*25-22935T>A (n.*25-22935T>A) c.1549A>T c.1502A>T (p.Asn501Ile) n.2088A>T | |
12 | g.12164370T>C | CA383946481 | BCL2L14,LRP6 | c.1955A>G (p.Asn652Ser) c.*25-22935T>C (n.*25-22935T>C) c.1549A>G c.1502A>G (p.Asn501Ser) n.2088A>G | |
12 | g.12164370T>G | CA383946482 | BCL2L14,LRP6 | c.1955A>C (p.Asn652Thr) c.*25-22935T>G (n.*25-22935T>G) c.1549A>C c.1502A>C (p.Asn501Thr) n.2088A>C | |
12 | g.12164371T>A | CA383946483 | BCL2L14,LRP6 | c.1954A>T (p.Asn652Tyr) c.*25-22934T>A (n.*25-22934T>A) c.1548A>T c.1501A>T (p.Asn501Tyr) n.2087A>T | |
12 | g.12164371T>C | CA383946484 | BCL2L14,LRP6 | c.1954A>G (p.Asn652Asp) c.*25-22934T>C (n.*25-22934T>C) c.1548A>G c.1501A>G (p.Asn501Asp) n.2087A>G | |
12 | g.12164371T>G | CA383946485 | BCL2L14,LRP6 | c.1954A>C (p.Asn652His) c.*25-22934T>G (n.*25-22934T>G) c.1548A>C c.1501A>C (p.Asn501His) n.2087A>C | |
12 | g.12164372A= | CA2016783040 | BCL2L14,LRP6 | c.1953T= (p.Asn651=) c.*25-22933A= (n.*25-22933A=) c.1547T= c.1500T= (p.Asn500=) n.2086T= | |
12 | g.12164372A>C | CA383946486 | BCL2L14,LRP6 | c.1953T>G (p.Asn651Lys) c.*25-22933A>C (n.*25-22933A>C) c.1547T>G c.1500T>G (p.Asn500Lys) n.2086T>G | |
12 | g.12164372A>G | CA478660555 | BCL2L14,LRP6 | c.1953T>C (p.Asn651=) c.*25-22933A>G (n.*25-22933A>G) c.1547T>C c.1500T>C (p.Asn500=) n.2086T>C | dbSNP |
12 | g.12164372A>T | CA383946487 | BCL2L14,LRP6 | c.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 |
12 | g.12164373T>A | CA383946488 | BCL2L14,LRP6 | c.1952A>T (p.Asn651Ile) c.*25-22932T>A (n.*25-22932T>A) c.1546A>T c.1499A>T (p.Asn500Ile) n.2085A>T | |
12 | g.12164373T>C | CA383946490 | BCL2L14,LRP6 | c.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 |
12 | g.12164373T>G | CA383946489 | BCL2L14,LRP6 | c.1952A>C (p.Asn651Thr) c.*25-22932T>G (n.*25-22932T>G) c.1546A>C c.1499A>C (p.Asn500Thr) n.2085A>C | |
12 | g.12164373T= | CA2016783041 | BCL2L14,LRP6 | c.1952A= (p.Asn651=) c.*25-22932T= (n.*25-22932T=) c.1546A= c.1499A= (p.Asn500=) n.2085A= | |
12 | g.12164374T>A | CA383946491 | BCL2L14,LRP6 | c.1951A>T (p.Asn651Tyr) c.*25-22931T>A (n.*25-22931T>A) c.1545A>T c.1498A>T (p.Asn500Tyr) n.2084A>T | |
12 | g.12164374T>C | CA383946492 | BCL2L14,LRP6 | c.1951A>G (p.Asn651Asp) c.*25-22931T>C (n.*25-22931T>C) c.1545A>G c.1498A>G (p.Asn500Asp) n.2084A>G | |
12 | g.12164374T>G | CA383946493 | BCL2L14,LRP6 | c.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 |
12 | g.12164375G>A | CA478660556 | BCL2L14,LRP6 | c.1950C>T (p.Asn650=) c.*25-22930G>A (n.*25-22930G>A) c.1544C>T c.1497C>T (p.Asn499=) n.2083C>T | |
12 | g.12164375G>C | CA383946494 | BCL2L14,LRP6 | c.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 |
12 | g.12164375G>T | CA383946495 | BCL2L14,LRP6 | c.1950C>A (p.Asn650Lys) c.*25-22930G>T (n.*25-22930G>T) c.1544C>A c.1497C>A (p.Asn499Lys) n.2083C>A | |
12 | g.12164376T>A | CA383946496 | BCL2L14,LRP6 | c.1949A>T (p.Asn650Ile) c.*25-22929T>A (n.*25-22929T>A) c.1543A>T c.1496A>T (p.Asn499Ile) n.2082A>T | |
12 | g.12164376T>C | CA383946497 | BCL2L14,LRP6 | c.1949A>G (p.Asn650Ser) c.*25-22929T>C (n.*25-22929T>C) c.1543A>G c.1496A>G (p.Asn499Ser) n.2082A>G | |
12 | g.12164376T>G | CA383946498 | BCL2L14,LRP6 | c.1949A>C (p.Asn650Thr) c.*25-22929T>G (n.*25-22929T>G) c.1543A>C c.1496A>C (p.Asn499Thr) n.2082A>C | |
12 | g.12164377T>A | CA383946499 | BCL2L14,LRP6 | c.1948A>T (p.Asn650Tyr) c.*25-22928T>A (n.*25-22928T>A) c.1542A>T c.1495A>T (p.Asn499Tyr) n.2081A>T | |
12 | g.12164377T>C | CA383946500 | BCL2L14,LRP6 | c.1948A>G (p.Asn650Asp) c.*25-22928T>C (n.*25-22928T>C) c.1542A>G c.1495A>G (p.Asn499Asp) n.2081A>G | |
12 | g.12164377T>G | CA383946501 | BCL2L14,LRP6 | c.1948A>C (p.Asn650His) c.*25-22928T>G (n.*25-22928T>G) c.1542A>C c.1495A>C (p.Asn499His) n.2081A>C | |
12 | g.12164378T>A | CA478660559 | BCL2L14,LRP6 | c.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 |
12 | g.12164378T>C | CA478660558 | BCL2L14,LRP6 | c.1947A>G (p.Thr649=) c.*25-22927T>C (n.*25-22927T>C) c.1541A>G c.1494A>G (p.Thr498=) n.2080A>G | |
12 | g.12164378T>G | CA478660557 | BCL2L14,LRP6 | c.1947A>C (p.Thr649=) c.*25-22927T>G (n.*25-22927T>G) c.1541A>C c.1494A>C (p.Thr498=) n.2080A>C | |
12 | g.12164378T= | CA2016783042 | BCL2L14,LRP6 | c.1947A= (p.Thr649=) c.*25-22927T= (n.*25-22927T=) c.1541A= c.1494A= (p.Thr498=) n.2080A= | |
12 | g.12164379G>A | CA383946502 | BCL2L14,LRP6 | c.1946C>T (p.Thr649Ile) c.*25-22926G>A (n.*25-22926G>A) c.1540C>T c.1493C>T (p.Thr498Ile) n.2079C>T | |
12 | g.12164379G>C | CA383946503 | BCL2L14,LRP6 | c.1946C>G (p.Thr649Arg) c.*25-22926G>C (n.*25-22926G>C) c.1540C>G c.1493C>G (p.Thr498Arg) n.2079C>G | |
12 | g.12164379G= | CA2016783043 | BCL2L14,LRP6 | c.1946C= (p.Thr649=) c.*25-22926G= (n.*25-22926G=) c.1540C= c.1493C= (p.Thr498=) n.2079C= | |
12 | g.12164379G>T | CA232993111 | BCL2L14,LRP6 | c.1946C>A (p.Thr649Lys) c.*25-22926G>T (n.*25-22926G>T) c.1540C>A c.1493C>A (p.Thr498Lys) n.2079C>A | dbSNP |
12 | g.12164380T>A | CA383946504 | BCL2L14,LRP6 | c.1945A>T (p.Thr649Ser) c.*25-22925T>A (n.*25-22925T>A) c.1539A>T c.1492A>T (p.Thr498Ser) n.2078A>T | |
12 | g.12164380T>C | CA6455563 | BCL2L14,LRP6 | c.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 |
12 | g.12164380T>G | CA383946505 | BCL2L14,LRP6 | c.1945A>C (p.Thr649Pro) c.*25-22925T>G (n.*25-22925T>G) c.1539A>C c.1492A>C (p.Thr498Pro) n.2078A>C | |
12 | g.12164380T= | CA2016783044 | BCL2L14,LRP6 | c.1945A= (p.Thr649=) c.*25-22925T= (n.*25-22925T=) c.1539A= c.1492A= (p.Thr498=) n.2078A= | |
12 | g.12164381T>A | CA383946506 | BCL2L14,LRP6 | c.1944A>T (p.Glu648Asp) c.*25-22924T>A (n.*25-22924T>A) c.1538A>T c.1491A>T (p.Glu497Asp) n.2077A>T | |
12 | g.12164381T>C | CA478660560 | BCL2L14,LRP6 | c.1944A>G (p.Glu648=) c.*25-22924T>C (n.*25-22924T>C) c.1538A>G c.1491A>G (p.Glu497=) n.2077A>G | ClinVar |
12 | g.12164381T>G | CA383946507 | BCL2L14,LRP6 | c.1944A>C (p.Glu648Asp) c.*25-22924T>G (n.*25-22924T>G) c.1538A>C c.1491A>C (p.Glu497Asp) n.2077A>C | |
12 | g.12164382T>A | CA232993117 | BCL2L14,LRP6 | c.1943A>T (p.Glu648Val) c.*25-22923T>A (n.*25-22923T>A) c.1537A>T c.1490A>T (p.Glu497Val) n.2076A>T | dbSNP |
12 | g.12164382T>C | CA383946508 | BCL2L14,LRP6 | c.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 |
12 | g.12164382T>G | CA383946509 | BCL2L14,LRP6 | c.1943A>C (p.Glu648Ala) c.*25-22923T>G (n.*25-22923T>G) c.1537A>C c.1490A>C (p.Glu497Ala) n.2076A>C | |
12 | g.12164382T= | CA2016783045 | BCL2L14,LRP6 | c.1943A= (p.Glu648=) c.*25-22923T= (n.*25-22923T=) c.1537A= c.1490A= (p.Glu497=) n.2076A= | |
12 | g.12164383C>A | CA383946510 | BCL2L14,LRP6 | c.1942G>T (p.Glu648Ter) c.*25-22922C>A (n.*25-22922C>A) c.1536G>T c.1489G>T (p.Glu497Ter) n.2075G>T | |
12 | g.12164383C>G | CA383946511 | BCL2L14,LRP6 | c.1942G>C (p.Glu648Gln) c.*25-22922C>G (n.*25-22922C>G) c.1536G>C c.1489G>C (p.Glu497Gln) n.2075G>C | |
12 | g.12164383C>T | CA383946512 | BCL2L14,LRP6 | c.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 |
12 | g.12164384del | CA2725540914 | BCL2L14,LRP6 | c.1942del (p.Glu648LysfsTer24) c.*25-22921del (n.*25-22921del) c.1536del c.1489del (p.Glu497LysfsTer24) n.2075del | dbSNP |
12 | g.12164384C>A | CA478660563 | BCL2L14,LRP6 | c.1941G>T (p.Leu647=) c.*25-22921C>A (n.*25-22921C>A) c.1535G>T c.1488G>T (p.Leu496=) n.2074G>T | |
12 | g.12164384C>G | CA478660561 | BCL2L14,LRP6 | c.1941G>C (p.Leu647=) c.*25-22921C>G (n.*25-22921C>G) c.1535G>C c.1488G>C (p.Leu496=) n.2074G>C | |
12 | g.12164384C>T | CA478660562 | BCL2L14,LRP6 | c.1941G>A (p.Leu647=) c.*25-22921C>T (n.*25-22921C>T) c.1535G>A c.1488G>A (p.Leu496=) n.2074G>A | |
12 | g.12164385A>C | CA383946513 | BCL2L14,LRP6 | c.1940T>G (p.Leu647Arg) c.*25-22920A>C (n.*25-22920A>C) c.1534T>G c.1487T>G (p.Leu496Arg) n.2073T>G | |
12 | g.12164385A>G | CA383946514 | BCL2L14,LRP6 | c.1940T>C (p.Leu647Pro) c.*25-22920A>G (n.*25-22920A>G) c.1534T>C c.1487T>C (p.Leu496Pro) n.2073T>C | |
12 | g.12164385A>T | CA383946515 | BCL2L14,LRP6 | c.1940T>A (p.Leu647Gln) c.*25-22920A>T (n.*25-22920A>T) c.1534T>A c.1487T>A (p.Leu496Gln) n.2073T>A | |
12 | g.12164386G>A | CA478660564 | BCL2L14,LRP6 | c.1939C>T (p.Leu647=) c.*25-22919G>A (n.*25-22919G>A) c.1533C>T c.1486C>T (p.Leu496=) n.2072C>T | dbSNP |
12 | g.12164386G>C | CA383946516 | BCL2L14,LRP6 | c.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 |
12 | g.12164386G= | CA2016783046 | BCL2L14,LRP6 | c.1939C= (p.Leu647=) c.*25-22919G= (n.*25-22919G=) c.1533C= c.1486C= (p.Leu496=) n.2072C= | |
12 | g.12164386G>T | CA383946517 | BCL2L14,LRP6 | c.1939C>A (p.Leu647Met) c.*25-22919G>T (n.*25-22919G>T) c.1533C>A c.1486C>A (p.Leu496Met) n.2072C>A | |
12 | g.12164387A>C | CA478660565 | BCL2L14,LRP6 | c.1938T>G (p.Ser646=) c.*25-22918A>C (n.*25-22918A>C) c.1532T>G c.1485T>G (p.Ser495=) n.2071T>G | |
12 | g.12164387A>G | CA478660567 | BCL2L14,LRP6 | c.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 |
12 | g.12164387A>T | CA478660566 | BCL2L14,LRP6 | c.1938T>A (p.Ser646=) c.*25-22918A>T (n.*25-22918A>T) c.1532T>A c.1485T>A (p.Ser495=) n.2071T>A | |
12 | g.12164388G>A | CA383946518 | BCL2L14,LRP6 | c.1937C>T (p.Ser646Phe) c.*25-22917G>A (n.*25-22917G>A) c.1531C>T c.1484C>T (p.Ser495Phe) n.2070C>T | |
12 | g.12164388G>C | CA383946520 | BCL2L14,LRP6 | c.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 |
12 | g.12164388G= | CA2016783047 | BCL2L14,LRP6 | c.1937C= (p.Ser646=) c.*25-22917G= (n.*25-22917G=) c.1531C= c.1484C= (p.Ser495=) n.2070C= | |
12 | g.12164388G>T | CA383946519 | BCL2L14,LRP6 | c.1937C>A (p.Ser646Tyr) c.*25-22917G>T (n.*25-22917G>T) c.1531C>A c.1484C>A (p.Ser495Tyr) n.2070C>A | |
12 | g.12164389A>C | CA383946521 | BCL2L14,LRP6 | c.1936T>G (p.Ser646Ala) c.*25-22916A>C (n.*25-22916A>C) c.1530T>G c.1483T>G (p.Ser495Ala) n.2069T>G | |
12 | g.12164389A>G | CA383946522 | BCL2L14,LRP6 | c.1936T>C (p.Ser646Pro) c.*25-22916A>G (n.*25-22916A>G) c.1530T>C c.1483T>C (p.Ser495Pro) n.2069T>C | |
12 | g.12164389A>T | CA383946523 | BCL2L14,LRP6 | c.1936T>A (p.Ser646Thr) c.*25-22916A>T (n.*25-22916A>T) c.1530T>A c.1483T>A (p.Ser495Thr) n.2069T>A | |
12 | g.12164390A>C | CA383946524 | BCL2L14,LRP6 | c.1935T>G (p.Ile645Met) c.*25-22915A>C (n.*25-22915A>C) c.1529T>G c.1482T>G (p.Ile494Met) n.2068T>G | |
12 | g.12164390A>G | CA478660568 | BCL2L14,LRP6 | c.1935T>C (p.Ile645=) c.*25-22915A>G (n.*25-22915A>G) c.1529T>C c.1482T>C (p.Ile494=) n.2068T>C | |
12 | g.12164390A>T | CA478660569 | BCL2L14,LRP6 | c.1935T>A (p.Ile645=) c.*25-22915A>T (n.*25-22915A>T) c.1529T>A c.1482T>A (p.Ile494=) n.2068T>A | |
12 | g.12164391A>C | CA383946525 | BCL2L14,LRP6 | c.1934T>G (p.Ile645Ser) c.*25-22914A>C (n.*25-22914A>C) c.1528T>G c.1481T>G (p.Ile494Ser) n.2067T>G | |
12 | g.12164391A>G | CA383946526 | BCL2L14,LRP6 | c.1934T>C (p.Ile645Thr) c.*25-22914A>G (n.*25-22914A>G) c.1528T>C c.1481T>C (p.Ile494Thr) n.2067T>C | |
12 | g.12164391A>T | CA383946527 | BCL2L14,LRP6 | c.1934T>A (p.Ile645Asn) c.*25-22914A>T (n.*25-22914A>T) c.1528T>A c.1481T>A (p.Ile494Asn) n.2067T>A | |
12 | g.12164392T>A | CA383946528 | BCL2L14,LRP6 | c.1933A>T (p.Ile645Phe) c.*25-22913T>A (n.*25-22913T>A) c.1527A>T c.1480A>T (p.Ile494Phe) n.2066A>T | |
12 | g.12164392T>C | CA383946529 | BCL2L14,LRP6 | c.1933A>G (p.Ile645Val) c.*25-22913T>C (n.*25-22913T>C) c.1527A>G c.1480A>G (p.Ile494Val) n.2066A>G | |
12 | g.12164392T>G | CA383946530 | BCL2L14,LRP6 | c.1933A>C (p.Ile645Leu) c.*25-22913T>G (n.*25-22913T>G) c.1527A>C c.1480A>C (p.Ile494Leu) n.2066A>C | COSMIC |
12 | g.12164393T>A | CA478660572 | BCL2L14,LRP6 | c.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 |
12 | g.12164393T>C | CA478660571 | BCL2L14,LRP6 | c.1932A>G (p.Arg644=) c.*25-22912T>C (n.*25-22912T>C) c.1526A>G c.1479A>G (p.Arg493=) n.2065A>G | |
12 | g.12164393T>G | CA478660570 | BCL2L14,LRP6 | c.1932A>C (p.Arg644=) c.*25-22912T>G (n.*25-22912T>G) c.1526A>C c.1479A>C (p.Arg493=) n.2065A>C | |
12 | g.12164394C>A | CA383946532 | BCL2L14,LRP6 | c.1931G>T (p.Arg644Leu) c.*25-22911C>A (n.*25-22911C>A) c.1525G>T c.1478G>T (p.Arg493Leu) n.2064G>T | |
12 | g.12164394C>G | CA383946533 | BCL2L14,LRP6 | c.1931G>C (p.Arg644Pro) c.*25-22911C>G (n.*25-22911C>G) c.1525G>C c.1478G>C (p.Arg493Pro) n.2064G>C | |
12 | g.12164394C>T | CA383946531 | BCL2L14,LRP6 | c.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 |
12 | g.12164395G>A | CA383946535 | BCL2L14,LRP6 | c.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 |
12 | g.12164395G>C | CA383946536 | BCL2L14,LRP6 | c.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 |
12 | g.12164395G= | CA2016783048 | BCL2L14,LRP6 | c.1930C= (p.Arg644=) c.*25-22910G= (n.*25-22910G=) c.1524C= c.1477C= (p.Arg493=) n.2063C= | |
12 | g.12164395G>T | CA478660573 | BCL2L14,LRP6 | c.1930C>A (p.Arg644=) c.*25-22910G>T (n.*25-22910G>T) c.1524C>A c.1477C>A (p.Arg493=) n.2063C>A | |
12 | g.12164396T>A | CA383946537 | BCL2L14,LRP6 | c.1929A>T (p.Arg643Ser) c.*25-22909T>A (n.*25-22909T>A) c.1523A>T c.1476A>T (p.Arg492Ser) n.2062A>T | dbSNP |
12 | g.12164396T>C | CA478660574 | BCL2L14,LRP6 | c.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 |
12 | g.12164396T>G | CA383946538 | BCL2L14,LRP6 | c.1929A>C (p.Arg643Ser) c.*25-22909T>G (n.*25-22909T>G) c.1523A>C c.1476A>C (p.Arg492Ser) n.2062A>C | |
12 | g.12164396T= | CA2016783049 | BCL2L14,LRP6 | c.1929A= (p.Arg643=) c.*25-22909T= (n.*25-22909T=) c.1523A= c.1476A= (p.Arg492=) n.2062A= | |
12 | g.12164397C>A | CA383946539 | BCL2L14,LRP6 | c.1928G>T (p.Arg643Ile) c.*25-22908C>A (n.*25-22908C>A) c.1522G>T c.1475G>T (p.Arg492Ile) n.2061G>T | |
12 | g.12164397C>G | CA383946540 | BCL2L14,LRP6 | c.1928G>C (p.Arg643Thr) c.*25-22908C>G (n.*25-22908C>G) c.1522G>C c.1475G>C (p.Arg492Thr) n.2061G>C | |
12 | g.12164397C>T | CA383946541 | BCL2L14,LRP6 | c.1928G>A (p.Arg643Lys) c.*25-22908C>T (n.*25-22908C>T) c.1522G>A c.1475G>A (p.Arg492Lys) n.2061G>A | |
12 | g.12164398T>A | CA383946542 | BCL2L14,LRP6 | c.1927A>T (p.Arg643Ter) c.*25-22907T>A (n.*25-22907T>A) c.1521A>T c.1474A>T (p.Arg492Ter) n.2060A>T | |
12 | g.12164398T>C | CA383946543 | BCL2L14,LRP6 | c.1927A>G (p.Arg643Gly) c.*25-22907T>C (n.*25-22907T>C) c.1521A>G c.1474A>G (p.Arg492Gly) n.2060A>G | |
12 | g.12164398T>G | CA478660575 | BCL2L14,LRP6 | c.1927A>C (p.Arg643=) c.*25-22907T>G (n.*25-22907T>G) c.1521A>C c.1474A>C (p.Arg492=) n.2060A>C | |
12 | g.12164398dup | CA2580615134 | BCL2L14,LRP6 | c.1927dup (p.Arg643LysfsTer10) c.*25-22907dup (n.*25-22907dup) c.1521dup c.1474dup (p.Arg492LysfsTer10) n.2060dup | ClinVar |
12 | g.12164399G>A | CA478660577 | BCL2L14,LRP6 | c.1926C>T (p.Ile642=) c.*25-22906G>A (n.*25-22906G>A) c.1520C>T c.1473C>T (p.Ile491=) n.2059C>T | |
12 | g.12164399G>C | CA383946544 | BCL2L14,LRP6 | c.1926C>G (p.Ile642Met) c.*25-22906G>C (n.*25-22906G>C) c.1520C>G c.1473C>G (p.Ile491Met) n.2059C>G | |
12 | g.12164399G>T | CA478660576 | BCL2L14,LRP6 | c.1926C>A (p.Ile642=) c.*25-22906G>T (n.*25-22906G>T) c.1520C>A c.1473C>A (p.Ile491=) n.2059C>A | |
12 | g.12164400A>C | CA383946545 | BCL2L14,LRP6 | c.1925T>G (p.Ile642Ser) c.*25-22905A>C (n.*25-22905A>C) c.1519T>G c.1472T>G (p.Ile491Ser) n.2058T>G | |
12 | g.12164400A>G | CA383946546 | BCL2L14,LRP6 | c.1925T>C (p.Ile642Thr) c.*25-22905A>G (n.*25-22905A>G) c.1519T>C c.1472T>C (p.Ile491Thr) n.2058T>C | |
12 | g.12164400A>T | CA383946547 | BCL2L14,LRP6 | c.1925T>A (p.Ile642Asn) c.*25-22905A>T (n.*25-22905A>T) c.1519T>A c.1472T>A (p.Ile491Asn) n.2058T>A | |
12 | g.12164401T>A | CA383946549 | BCL2L14,LRP6 | c.1924A>T (p.Ile642Phe) c.*25-22904T>A (n.*25-22904T>A) c.1518A>T c.1471A>T (p.Ile491Phe) n.2057A>T | |
12 | g.12164401T>C | CA232993127 | BCL2L14,LRP6 | c.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 |
12 | g.12164401T>G | CA383946548 | BCL2L14,LRP6 | c.1924A>C (p.Ile642Leu) c.*25-22904T>G (n.*25-22904T>G) c.1518A>C c.1471A>C (p.Ile491Leu) n.2057A>C | |
12 | g.12164401T= | CA2016783050 | BCL2L14,LRP6 | c.1924A= (p.Ile642=) c.*25-22904T= (n.*25-22904T=) c.1518A= c.1471A= (p.Ile491=) n.2057A= | |
12 | g.12164401dup | CA2695216095 | BCL2L14,LRP6 | c.1924dup (p.Ile642AsnfsTer11) c.*25-22904dup (n.*25-22904dup) c.1518dup c.1471dup (p.Ile491AsnfsTer11) n.2057dup | |
12 | g.12164402A= | CA2016783051 | BCL2L14,LRP6 | c.1923T= (p.Asp641=) c.*25-22903A= (n.*25-22903A=) c.1517T= c.1470T= (p.Asp490=) n.2056T= | |
12 | g.12164402A>C | CA383946550 | BCL2L14,LRP6 | c.1923T>G (p.Asp641Glu) c.*25-22903A>C (n.*25-22903A>C) c.1517T>G c.1470T>G (p.Asp490Glu) n.2056T>G | |
12 | g.12164402A>G | CA478660578 | BCL2L14,LRP6 | c.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 |
12 | g.12164402A>T | CA383946551 | BCL2L14,LRP6 | c.1923T>A (p.Asp641Glu) c.*25-22903A>T (n.*25-22903A>T) c.1517T>A c.1470T>A (p.Asp490Glu) n.2056T>A | |
12 | g.12164403T>A | CA6455564 | BCL2L14,LRP6 | c.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 |
12 | g.12164403T>C | CA383946552 | BCL2L14,LRP6 | c.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 |
12 | g.12164403T>G | CA383946553 | BCL2L14,LRP6 | c.1922A>C (p.Asp641Ala) c.*25-22902T>G (n.*25-22902T>G) c.1516A>C c.1469A>C (p.Asp490Ala) n.2055A>C | |
12 | g.12164403T= | CA2016783052 | BCL2L14,LRP6 | c.1922A= (p.Asp641=) c.*25-22902T= (n.*25-22902T=) c.1516A= c.1469A= (p.Asp490=) n.2055A= | |
12 | g.12164404C>A | CA383946554 | BCL2L14,LRP6 | c.1921G>T (p.Asp641Tyr) c.*25-22901C>A (n.*25-22901C>A) c.1515G>T c.1468G>T (p.Asp490Tyr) n.2054G>T | |
12 | g.12164404C>G | CA383946555 | BCL2L14,LRP6 | c.1921G>C (p.Asp641His) c.*25-22901C>G (n.*25-22901C>G) c.1515G>C c.1468G>C (p.Asp490His) n.2054G>C | |
12 | g.12164404C>T | CA383946556 | BCL2L14,LRP6 | c.1921G>A (p.Asp641Asn) c.*25-22901C>T (n.*25-22901C>T) c.1515G>A c.1468G>A (p.Asp490Asn) n.2054G>A | |
12 | g.12164405T>A | CA478660580 | BCL2L14,LRP6 | c.1920A>T (p.Ala640=) c.*25-22900T>A (n.*25-22900T>A) c.1514A>T c.1467A>T (p.Ala489=) n.2053A>T | |
12 | g.12164405T>C | CA478660579 | BCL2L14,LRP6 | c.1920A>G (p.Ala640=) c.*25-22900T>C (n.*25-22900T>C) c.1514A>G c.1467A>G (p.Ala489=) n.2053A>G | |
12 | g.12164405T>G | CA478660581 | BCL2L14,LRP6 | c.1920A>C (p.Ala640=) c.*25-22900T>G (n.*25-22900T>G) c.1514A>C c.1467A>C (p.Ala489=) n.2053A>C |