Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121160129C=CA2004739104TBCEL-TECTA,TECTAc.4690-6C= (n.4690-6C=)
c.1997-6C=
n.626-6C=
c.5647-6C= (n.5647-6C=)
11g.121160129C>TCA6327547TBCEL-TECTA,TECTAc.4690-6C>T (n.4690-6C>T)
c.1997-6C>T
n.626-6C>T
c.5647-6C>T (n.5647-6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160131A=CA2004739106TBCEL-TECTA,TECTAc.4690-4A= (n.4690-4A=)
c.1997-4A=
n.626-4A=
c.5647-4A= (n.5647-4A=)
11g.121160131A>CCA672616892TBCEL-TECTA,TECTAc.4690-4A>C (n.4690-4A>C)
c.1997-4A>C
n.626-4A>C
c.5647-4A>C (n.5647-4A>C)
 dbSNP gnomAD v3 gnomAD v4
11g.121160131A>GCA6327548TBCEL-TECTA,TECTAc.4690-4A>G (n.4690-4A>G)
c.1997-4A>G
n.626-4A>G
c.5647-4A>G (n.5647-4A>G)
 ClinVar dbSNP ExAC gnomAD v4
11g.121160132T>CCA602580298TBCEL-TECTA,TECTAc.4690-3T>C (n.4690-3T>C)
c.1997-3T>C
n.626-3T>C
c.5647-3T>C (n.5647-3T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121160132T=CA2004739110TBCEL-TECTA,TECTAc.4690-3T= (n.4690-3T=)
c.1997-3T=
n.626-3T=
c.5647-3T= (n.5647-3T=)
11g.121160133A>CCA383028094TBCEL-TECTA,TECTAc.4690-2A>C (n.4690-2A>C)
c.1997-2A>C
n.626-2A>C
c.5647-2A>C (n.5647-2A>C)
11g.121160133A>GCA383028095TBCEL-TECTA,TECTAc.4690-2A>G (n.4690-2A>G)
c.1997-2A>G
n.626-2A>G
c.5647-2A>G (n.5647-2A>G)
11g.121160133A>TCA383028097TBCEL-TECTA,TECTAc.4690-2A>T (n.4690-2A>T)
c.1997-2A>T
n.626-2A>T
c.5647-2A>T (n.5647-2A>T)
11g.121160134G>ACA383028100TBCEL-TECTA,TECTAc.4690-1G>A (n.4690-1G>A)
c.1997-1G>A
n.626-1G>A
c.5647-1G>A (n.5647-1G>A)
 ClinVar gnomAD v4
11g.121160134G>CCA383028101TBCEL-TECTA,TECTAc.4690-1G>C (n.4690-1G>C)
c.1997-1G>C
n.626-1G>C
c.5647-1G>C (n.5647-1G>C)
11g.121160134G>TCA383028102TBCEL-TECTA,TECTAc.4690-1G>T (n.4690-1G>T)
c.1997-1G>T
n.626-1G>T
c.5647-1G>T (n.5647-1G>T)
11g.121160135G>ACA383028104TBCEL-TECTA,TECTAc.4690G>A (p.Val1564Met)
c.1997G>A
n.626G>A
c.5647G>A (p.Val1883Met)
11g.121160135G>CCA6327549TBCEL-TECTA,TECTAc.4690G>C (p.Val1564Leu)
c.1997G>C
n.626G>C
c.5647G>C (p.Val1883Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160135G=CA2004739112TBCEL-TECTA,TECTAc.4690G= (p.Val1564=)
c.1997G=
n.626G=
c.5647G= (p.Val1883=)
11g.121160135G>TCA383028103TBCEL-TECTA,TECTAc.4690G>T (p.Val1564Leu)
c.1997G>T
n.626G>T
c.5647G>T (p.Val1883Leu)
11g.121160136T>ACA383028105TBCEL-TECTA,TECTAc.4691T>A (p.Val1564Glu)
c.1998T>A
n.627T>A
c.5648T>A (p.Val1883Glu)
11g.121160136T>CCA383028106TBCEL-TECTA,TECTAc.4691T>C (p.Val1564Ala)
c.1998T>C
n.627T>C
c.5648T>C (p.Val1883Ala)
11g.121160136T>GCA383028109TBCEL-TECTA,TECTAc.4691T>G (p.Val1564Gly)
c.1998T>G
n.627T>G
c.5648T>G (p.Val1883Gly)
11g.121160137G>ACA477383061TBCEL-TECTA,TECTAc.4692G>A (p.Val1564=)
c.1999G>A
n.628G>A
c.5649G>A (p.Val1883=)
11g.121160137G>CCA477383062TBCEL-TECTA,TECTAc.4692G>C (p.Val1564=)
c.1999G>C
n.628G>C
c.5649G>C (p.Val1883=)
 gnomAD v4
11g.121160137G>TCA477383063TBCEL-TECTA,TECTAc.4692G>T (p.Val1564=)
c.1999G>T
n.628G>T
c.5649G>T (p.Val1883=)
11g.121160138A>CCA383028113TBCEL-TECTA,TECTAc.4693A>C (p.Asn1565His)
c.2000A>C
n.629A>C
c.5650A>C (p.Asn1884His)
11g.121160138A>GCA383028115TBCEL-TECTA,TECTAc.4693A>G (p.Asn1565Asp)
c.2000A>G
n.629A>G
c.5650A>G (p.Asn1884Asp)
11g.121160138A>TCA383028117TBCEL-TECTA,TECTAc.4693A>T (p.Asn1565Tyr)
c.2000A>T
n.629A>T
c.5650A>T (p.Asn1884Tyr)
11g.121160139A>CCA383028120TBCEL-TECTA,TECTAc.4694A>C (p.Asn1565Thr)
c.2001A>C
n.630A>C
c.5651A>C (p.Asn1884Thr)
11g.121160139A>GCA383028122TBCEL-TECTA,TECTAc.4694A>G (p.Asn1565Ser)
c.2001A>G
n.630A>G
c.5651A>G (p.Asn1884Ser)
 gnomAD v4
11g.121160139A>TCA383028124TBCEL-TECTA,TECTAc.4694A>T (p.Asn1565Ile)
c.2001A>T
n.630A>T
c.5651A>T (p.Asn1884Ile)
11g.121160140T>ACA383028126TBCEL-TECTA,TECTAc.4695T>A (p.Asn1565Lys)
c.2002T>A
n.631T>A
c.5652T>A (p.Asn1884Lys)
11g.121160140T>CCA477383065TBCEL-TECTA,TECTAc.4695T>C (p.Asn1565=)
c.2002T>C
n.631T>C
c.5652T>C (p.Asn1884=)
11g.121160140T>GCA383028127TBCEL-TECTA,TECTAc.4695T>G (p.Asn1565Lys)
c.2002T>G
n.631T>G
c.5652T>G (p.Asn1884Lys)
11g.121160141G>ACA6327550TBCEL-TECTA,TECTAc.4696G>A (p.Gly1566Ser)
c.2003G>A
n.632G>A
c.5653G>A (p.Gly1885Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160141G>CCA383028130TBCEL-TECTA,TECTAc.4696G>C (p.Gly1566Arg)
c.2003G>C
n.632G>C
c.5653G>C (p.Gly1885Arg)
11g.121160141G=CA2004739115TBCEL-TECTA,TECTAc.4696G= (p.Gly1566=)
c.2003G=
n.632G=
c.5653G= (p.Gly1885=)
11g.121160141G>TCA383028128TBCEL-TECTA,TECTAc.4696G>T (p.Gly1566Cys)
c.2003G>T
n.632G>T
c.5653G>T (p.Gly1885Cys)
11g.121160142G>ACA383028132TBCEL-TECTA,TECTAc.4697G>A (p.Gly1566Asp)
c.2004G>A
n.633G>A
c.5654G>A (p.Gly1885Asp)
 gnomAD v4
11g.121160142G>CCA383028133TBCEL-TECTA,TECTAc.4697G>C (p.Gly1566Ala)
c.2004G>C
n.633G>C
c.5654G>C (p.Gly1885Ala)
 dbSNP gnomAD v2
11g.121160142G=CA2004739117TBCEL-TECTA,TECTAc.4697G= (p.Gly1566=)
c.2004G=
n.633G=
c.5654G= (p.Gly1885=)
11g.121160142G>TCA383028135TBCEL-TECTA,TECTAc.4697G>T (p.Gly1566Val)
c.2004G>T
n.633G>T
c.5654G>T (p.Gly1885Val)
11g.121160143C>ACA477383066TBCEL-TECTA,TECTAc.4698C>A (p.Gly1566=)
c.2005C>A
n.634C>A
c.5655C>A (p.Gly1885=)
11g.121160143C>GCA477383067TBCEL-TECTA,TECTAc.4698C>G (p.Gly1566=)
c.2005C>G
n.634C>G
c.5655C>G (p.Gly1885=)
11g.121160143C>TCA477383068TBCEL-TECTA,TECTAc.4698C>T (p.Gly1566=)
c.2005C>T
n.634C>T
c.5655C>T (p.Gly1885=)
11g.121160144A>CCA383028139TBCEL-TECTA,TECTAc.4699A>C (p.Thr1567Pro)
c.2006A>C
n.635A>C
c.5656A>C (p.Thr1886Pro)
11g.121160144A>GCA383028140TBCEL-TECTA,TECTAc.4699A>G (p.Thr1567Ala)
c.2006A>G
n.635A>G
c.5656A>G (p.Thr1886Ala)
11g.121160144A>TCA383028142TBCEL-TECTA,TECTAc.4699A>T (p.Thr1567Ser)
c.2006A>T
n.635A>T
c.5656A>T (p.Thr1886Ser)
11g.121160145C>ACA383028144TBCEL-TECTA,TECTAc.4700C>A (p.Thr1567Lys)
c.2007C>A
n.636C>A
c.5657C>A (p.Thr1886Lys)
 gnomAD v4
11g.121160145C=CA2004739119TBCEL-TECTA,TECTAc.4700C= (p.Thr1567=)
c.2007C=
n.636C=
c.5657C= (p.Thr1886=)
11g.121160145C>GCA383028146TBCEL-TECTA,TECTAc.4700C>G (p.Thr1567Arg)
c.2007C>G
n.636C>G
c.5657C>G (p.Thr1886Arg)
11g.121160145C>TCA383028147TBCEL-TECTA,TECTAc.4700C>T (p.Thr1567Ile)
c.2007C>T
n.636C>T
c.5657C>T (p.Thr1886Ile)
 dbSNP
11g.121160146A>CCA477383069TBCEL-TECTA,TECTAc.4701A>C (p.Thr1567=)
c.2008A>C
n.637A>C
c.5658A>C (p.Thr1886=)
11g.121160146A>GCA477383070TBCEL-TECTA,TECTAc.4701A>G (p.Thr1567=)
c.2008A>G
n.637A>G
c.5658A>G (p.Thr1886=)
 dbSNP gnomAD v4
11g.121160146A>TCA477383071TBCEL-TECTA,TECTAc.4701A>T (p.Thr1567=)
c.2008A>T
n.637A>T
c.5658A>T (p.Thr1886=)
11g.121160147C>ACA383028148TBCEL-TECTA,TECTAc.4702C>A (p.Gln1568Lys)
c.2009C>A
n.638C>A
c.5659C>A (p.Gln1887Lys)
11g.121160147C>GCA383028149TBCEL-TECTA,TECTAc.4702C>G (p.Gln1568Glu)
c.2009C>G
n.638C>G
c.5659C>G (p.Gln1887Glu)
11g.121160147C>TCA383028150TBCEL-TECTA,TECTAc.4702C>T (p.Gln1568Ter)
c.2009C>T
n.638C>T
c.5659C>T (p.Gln1887Ter)
11g.121160148A>CCA383028156TBCEL-TECTA,TECTAc.4703A>C (p.Gln1568Pro)
c.2010A>C
n.639A>C
c.5660A>C (p.Gln1887Pro)
11g.121160148A>GCA383028159TBCEL-TECTA,TECTAc.4703A>G (p.Gln1568Arg)
c.2010A>G
n.639A>G
c.5660A>G (p.Gln1887Arg)
11g.121160148A>TCA383028151TBCEL-TECTA,TECTAc.4703A>T (p.Gln1568Leu)
c.2010A>T
n.639A>T
c.5660A>T (p.Gln1887Leu)
 gnomAD v4
11g.121160149A>CCA383028161TBCEL-TECTA,TECTAc.4704A>C (p.Gln1568His)
c.2011A>C
n.640A>C
c.5661A>C (p.Gln1887His)
11g.121160149A>GCA477383072TBCEL-TECTA,TECTAc.4704A>G (p.Gln1568=)
c.2011A>G
n.640A>G
c.5661A>G (p.Gln1887=)
11g.121160149A>TCA383028163TBCEL-TECTA,TECTAc.4704A>T (p.Gln1568His)
c.2011A>T
n.640A>T
c.5661A>T (p.Gln1887His)
11g.121160150G>ACA383028164TBCEL-TECTA,TECTAc.4705G>A (p.Val1569Met)
c.2012G>A
n.641G>A
c.5662G>A (p.Val1888Met)
 dbSNP gnomAD v2 gnomAD v4
11g.121160150G>CCA383028165TBCEL-TECTA,TECTAc.4705G>C (p.Val1569Leu)
c.2012G>C
n.641G>C
c.5662G>C (p.Val1888Leu)
11g.121160150G=CA2004739122TBCEL-TECTA,TECTAc.4705G= (p.Val1569=)
c.2012G=
n.641G=
c.5662G= (p.Val1888=)
11g.121160150G>TCA383028166TBCEL-TECTA,TECTAc.4705G>T (p.Val1569Leu)
c.2012G>T
n.641G>T
c.5662G>T (p.Val1888Leu)
11g.121160151T>ACA383028173TBCEL-TECTA,TECTAc.4706T>A (p.Val1569Glu)
c.2013T>A
n.642T>A
c.5663T>A (p.Val1888Glu)
11g.121160151T>CCA383028170TBCEL-TECTA,TECTAc.4706T>C (p.Val1569Ala)
c.2013T>C
n.642T>C
c.5663T>C (p.Val1888Ala)
11g.121160151T>GCA383028172TBCEL-TECTA,TECTAc.4706T>G (p.Val1569Gly)
c.2013T>G
n.642T>G
c.5663T>G (p.Val1888Gly)
11g.121160152G>ACA477383074TBCEL-TECTA,TECTAc.4707G>A (p.Val1569=)
c.2014G>A
n.643G>A
c.5664G>A (p.Val1888=)
11g.121160152G>CCA477383075TBCEL-TECTA,TECTAc.4707G>C (p.Val1569=)
c.2014G>C
n.643G>C
c.5664G>C (p.Val1888=)
 gnomAD v4
11g.121160152G>TCA477383076TBCEL-TECTA,TECTAc.4707G>T (p.Val1569=)
c.2014G>T
n.643G>T
c.5664G>T (p.Val1888=)
11g.121160153A>CCA383028175TBCEL-TECTA,TECTAc.4708A>C (p.Asn1570His)
c.2015A>C
n.644A>C
c.5665A>C (p.Asn1889His)
11g.121160153A>GCA383028176TBCEL-TECTA,TECTAc.4708A>G (p.Asn1570Asp)
c.2015A>G
n.644A>G
c.5665A>G (p.Asn1889Asp)
11g.121160153A>TCA383028177TBCEL-TECTA,TECTAc.4708A>T (p.Asn1570Tyr)
c.2015A>T
n.644A>T
c.5665A>T (p.Asn1889Tyr)
11g.121160154A>CCA383028178TBCEL-TECTA,TECTAc.4709A>C (p.Asn1570Thr)
c.2016A>C
n.645A>C
c.5666A>C (p.Asn1889Thr)
11g.121160154A>GCA383028184TBCEL-TECTA,TECTAc.4709A>G (p.Asn1570Ser)
c.2016A>G
n.645A>G
c.5666A>G (p.Asn1889Ser)
11g.121160154A>TCA383028186TBCEL-TECTA,TECTAc.4709A>T (p.Asn1570Ile)
c.2016A>T
n.645A>T
c.5666A>T (p.Asn1889Ile)
11g.121160155T>ACA383028189TBCEL-TECTA,TECTAc.4710T>A (p.Asn1570Lys)
c.2017T>A
n.646T>A
c.5667T>A (p.Asn1889Lys)
11g.121160155T>CCA477383078TBCEL-TECTA,TECTAc.4710T>C (p.Asn1570=)
c.2017T>C
n.646T>C
c.5667T>C (p.Asn1889=)
11g.121160155T>GCA383028188TBCEL-TECTA,TECTAc.4710T>G (p.Asn1570Lys)
c.2017T>G
n.646T>G
c.5667T>G (p.Asn1889Lys)
11g.121160156G>ACA383028190TBCEL-TECTA,TECTAc.4711G>A (p.Val1571Ile)
c.2018G>A
n.647G>A
c.5668G>A (p.Val1890Ile)
 gnomAD v4
11g.121160156G>CCA383028193TBCEL-TECTA,TECTAc.4711G>C (p.Val1571Leu)
c.2018G>C
n.647G>C
c.5668G>C (p.Val1890Leu)
 dbSNP gnomAD v4
11g.121160156G=CA2004739125TBCEL-TECTA,TECTAc.4711G= (p.Val1571=)
c.2018G=
n.647G=
c.5668G= (p.Val1890=)
11g.121160156G>TCA383028191TBCEL-TECTA,TECTAc.4711G>T (p.Val1571Phe)
c.2018G>T
n.647G>T
c.5668G>T (p.Val1890Phe)
11g.121160157T>ACA383028195TBCEL-TECTA,TECTAc.4712T>A (p.Val1571Asp)
c.2019T>A
n.648T>A
c.5669T>A (p.Val1890Asp)
11g.121160157T>CCA383028198TBCEL-TECTA,TECTAc.4712T>C (p.Val1571Ala)
c.2019T>C
n.648T>C
c.5669T>C (p.Val1890Ala)
11g.121160157T>GCA383028200TBCEL-TECTA,TECTAc.4712T>G (p.Val1571Gly)
c.2019T>G
n.648T>G
c.5669T>G (p.Val1890Gly)
11g.121160158T>ACA477383081TBCEL-TECTA,TECTAc.4713T>A (p.Val1571=)
c.2020T>A
n.649T>A
c.5670T>A (p.Val1890=)
11g.121160158T>CCA477383082TBCEL-TECTA,TECTAc.4713T>C (p.Val1571=)
c.2020T>C
n.649T>C
c.5670T>C (p.Val1890=)
11g.121160158T>GCA477383083TBCEL-TECTA,TECTAc.4713T>G (p.Val1571=)
c.2020T>G
n.649T>G
c.5670T>G (p.Val1890=)
11g.121160159C>ACA383028207TBCEL-TECTA,TECTAc.4714C>A (p.Pro1572Thr)
c.2021C>A
n.650C>A
c.5671C>A (p.Pro1891Thr)
11g.121160159C>GCA383028209TBCEL-TECTA,TECTAc.4714C>G (p.Pro1572Ala)
c.2021C>G
n.650C>G
c.5671C>G (p.Pro1891Ala)
11g.121160159C>TCA383028218TBCEL-TECTA,TECTAc.4714C>T (p.Pro1572Ser)
c.2021C>T
n.650C>T
c.5671C>T (p.Pro1891Ser)
11g.121160160C>ACA383028221TBCEL-TECTA,TECTAc.4715C>A (p.Pro1572Gln)
c.2022C>A
n.651C>A
c.5672C>A (p.Pro1891Gln)
 dbSNP gnomAD v4
11g.121160160C=CA2004739128TBCEL-TECTA,TECTAc.4715C= (p.Pro1572=)
c.2022C=
n.651C=
c.5672C= (p.Pro1891=)
11g.121160160C>GCA383028223TBCEL-TECTA,TECTAc.4715C>G (p.Pro1572Arg)
c.2022C>G
n.651C>G
c.5672C>G (p.Pro1891Arg)
11g.121160160C>TCA383028225TBCEL-TECTA,TECTAc.4715C>T (p.Pro1572Leu)
c.2022C>T
n.651C>T
c.5672C>T (p.Pro1891Leu)
11g.121160161A>CCA477383084TBCEL-TECTA,TECTAc.4716A>C (p.Pro1572=)
c.2023A>C
n.652A>C
c.5673A>C (p.Pro1891=)
11g.121160161A>GCA477383086TBCEL-TECTA,TECTAc.4716A>G (p.Pro1572=)
c.2023A>G
n.652A>G
c.5673A>G (p.Pro1891=)
11g.121160161A>TCA477383085TBCEL-TECTA,TECTAc.4716A>T (p.Pro1572=)
c.2023A>T
n.652A>T
c.5673A>T (p.Pro1891=)
11g.121160162T>ACA383028230TBCEL-TECTA,TECTAc.4717T>A (p.Phe1573Ile)
c.2024T>A
n.653T>A
c.5674T>A (p.Phe1892Ile)
11g.121160162T>CCA383028231TBCEL-TECTA,TECTAc.4717T>C (p.Phe1573Leu)
c.2024T>C
n.653T>C
c.5674T>C (p.Phe1892Leu)
11g.121160162T>GCA383028233TBCEL-TECTA,TECTAc.4717T>G (p.Phe1573Val)
c.2024T>G
n.653T>G
c.5674T>G (p.Phe1892Val)
11g.121160164delCA2616489309TBCEL-TECTA,TECTAc.4719del (p.Phe1573LeufsTer2)
c.2026del
n.655del
c.5676del (p.Phe1892LeufsTer2)
 gnomAD v4
11g.121160163T>ACA383028237TBCEL-TECTA,TECTAc.4718T>A (p.Phe1573Tyr)
c.2025T>A
n.654T>A
c.5675T>A (p.Phe1892Tyr)
11g.121160163T>CCA6327551TBCEL-TECTA,TECTAc.4718T>C (p.Phe1573Ser)
c.2025T>C
n.654T>C
c.5675T>C (p.Phe1892Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160163T>GCA383028236TBCEL-TECTA,TECTAc.4718T>G (p.Phe1573Cys)
c.2025T>G
n.654T>G
c.5675T>G (p.Phe1892Cys)
11g.121160163T=CA2004739133TBCEL-TECTA,TECTAc.4718T= (p.Phe1573=)
c.2025T=
n.654T=
c.5675T= (p.Phe1892=)
11g.121160164T>ACA229846013TBCEL-TECTA,TECTAc.4719T>A (p.Phe1573Leu)
c.2026T>A
n.655T>A
c.5676T>A (p.Phe1892Leu)
 dbSNP
11g.121160164T>CCA477383087TBCEL-TECTA,TECTAc.4719T>C (p.Phe1573=)
c.2026T>C
n.655T>C
c.5676T>C (p.Phe1892=)
11g.121160164T>GCA383028239TBCEL-TECTA,TECTAc.4719T>G (p.Phe1573Leu)
c.2026T>G
n.655T>G
c.5676T>G (p.Phe1892Leu)
11g.121160164T=CA2004739139TBCEL-TECTA,TECTAc.4719T= (p.Phe1573=)
c.2026T=
n.655T=
c.5676T= (p.Phe1892=)
11g.121160165A=CA2004739142TBCEL-TECTA,TECTAc.4720A= (p.Ile1574=)
c.2027A=
n.656A=
c.5677A= (p.Ile1893=)
11g.121160165A>CCA383028241TBCEL-TECTA,TECTAc.4720A>C (p.Ile1574Leu)
c.2027A>C
n.656A>C
c.5677A>C (p.Ile1893Leu)
11g.121160165A>GCA6327552TBCEL-TECTA,TECTAc.4720A>G (p.Ile1574Val)
c.2027A>G
n.656A>G
c.5677A>G (p.Ile1893Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160165A>TCA383028244TBCEL-TECTA,TECTAc.4720A>T (p.Ile1574Leu)
c.2027A>T
n.656A>T
c.5677A>T (p.Ile1893Leu)
11g.121160166T>ACA383028246TBCEL-TECTA,TECTAc.4721T>A (p.Ile1574Lys)
c.2028T>A
n.657T>A
c.5678T>A (p.Ile1893Lys)
11g.121160166T>CCA383028247TBCEL-TECTA,TECTAc.4721T>C (p.Ile1574Thr)
c.2028T>C
n.657T>C
c.5678T>C (p.Ile1893Thr)
 gnomAD v4
11g.121160166T>GCA383028252TBCEL-TECTA,TECTAc.4721T>G (p.Ile1574Arg)
c.2028T>G
n.657T>G
c.5678T>G (p.Ile1893Arg)
11g.121160167A=CA2004739147TBCEL-TECTA,TECTAc.4722A= (p.Ile1574=)
c.2029A=
n.658A=
c.5679A= (p.Ile1893=)
11g.121160167A>CCA477383090TBCEL-TECTA,TECTAc.4722A>C (p.Ile1574=)
c.2029A>C
n.658A>C
c.5679A>C (p.Ile1893=)
11g.121160167A>GCA6327553TBCEL-TECTA,TECTAc.4722A>G (p.Ile1574Met)
c.2029A>G
n.658A>G
c.5679A>G (p.Ile1893Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160167A>TCA477383089TBCEL-TECTA,TECTAc.4722A>T (p.Ile1574=)
c.2029A>T
n.658A>T
c.5679A>T (p.Ile1893=)
11g.121160168A>CCA383028255TBCEL-TECTA,TECTAc.4723A>C (p.Thr1575Pro)
c.2030A>C
n.659A>C
c.5680A>C (p.Thr1894Pro)
11g.121160168A>GCA383028257TBCEL-TECTA,TECTAc.4723A>G (p.Thr1575Ala)
c.2030A>G
n.659A>G
c.5680A>G (p.Thr1894Ala)
11g.121160168A>TCA383028264TBCEL-TECTA,TECTAc.4723A>T (p.Thr1575Ser)
c.2030A>T
n.659A>T
c.5680A>T (p.Thr1894Ser)
11g.121160169C>ACA383028269TBCEL-TECTA,TECTAc.4724C>A (p.Thr1575Asn)
c.2031C>A
n.660C>A
c.5681C>A (p.Thr1894Asn)
 dbSNP
11g.121160169C=CA2004739150TBCEL-TECTA,TECTAc.4724C= (p.Thr1575=)
c.2031C=
n.660C=
c.5681C= (p.Thr1894=)
11g.121160169C>GCA383028268TBCEL-TECTA,TECTAc.4724C>G (p.Thr1575Ser)
c.2031C>G
n.660C>G
c.5681C>G (p.Thr1894Ser)
 COSMIC
11g.121160169C>TCA383028267TBCEL-TECTA,TECTAc.4724C>T (p.Thr1575Ile)
c.2031C>T
n.660C>T
c.5681C>T (p.Thr1894Ile)
11g.121160170T>ACA477383161TBCEL-TECTA,TECTAc.4725T>A (p.Thr1575=)
c.2032T>A
n.661T>A
c.5682T>A (p.Thr1894=)
 dbSNP
11g.121160170T>CCA477383162TBCEL-TECTA,TECTAc.4725T>C (p.Thr1575=)
c.2032T>C
n.661T>C
c.5682T>C (p.Thr1894=)
11g.121160170T>GCA477383163TBCEL-TECTA,TECTAc.4725T>G (p.Thr1575=)
c.2032T>G
n.661T>G
c.5682T>G (p.Thr1894=)
11g.121160170T=CA2004739153TBCEL-TECTA,TECTAc.4725T= (p.Thr1575=)
c.2032T=
n.661T=
c.5682T= (p.Thr1894=)
11g.121160171G>ACA383028273TBCEL-TECTA,TECTAc.4726G>A (p.Gly1576Ser)
c.2033G>A
n.662G>A
c.5683G>A (p.Gly1895Ser)
11g.121160171G>CCA383028275TBCEL-TECTA,TECTAc.4726G>C (p.Gly1576Arg)
c.2033G>C
n.662G>C
c.5683G>C (p.Gly1895Arg)
11g.121160171G>TCA383028277TBCEL-TECTA,TECTAc.4726G>T (p.Gly1576Cys)
c.2033G>T
n.662G>T
c.5683G>T (p.Gly1895Cys)
11g.121160172G>ACA383028279TBCEL-TECTA,TECTAc.4727G>A (p.Gly1576Asp)
c.2034G>A
n.663G>A
c.5684G>A (p.Gly1895Asp)
 COSMIC
11g.121160172G>CCA383028284TBCEL-TECTA,TECTAc.4727G>C (p.Gly1576Ala)
c.2034G>C
n.663G>C
c.5684G>C (p.Gly1895Ala)
11g.121160172G=CA2004739156TBCEL-TECTA,TECTAc.4727G= (p.Gly1576=)
c.2034G=
n.663G=
c.5684G= (p.Gly1895=)
11g.121160172G>TCA229846021TBCEL-TECTA,TECTAc.4727G>T (p.Gly1576Val)
c.2034G>T
n.663G>T
c.5684G>T (p.Gly1895Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121160173T>ACA477383165TBCEL-TECTA,TECTAc.4728T>A (p.Gly1576=)
c.2035T>A
n.664T>A
c.5685T>A (p.Gly1895=)
11g.121160173T>CCA477383167TBCEL-TECTA,TECTAc.4728T>C (p.Gly1576=)
c.2035T>C
n.664T>C
c.5685T>C (p.Gly1895=)
11g.121160173T>GCA477383168TBCEL-TECTA,TECTAc.4728T>G (p.Gly1576=)
c.2035T>G
n.664T>G
c.5685T>G (p.Gly1895=)
 dbSNP gnomAD v4
11g.121160173T=CA2004739158TBCEL-TECTA,TECTAc.4728T= (p.Gly1576=)
c.2035T=
n.664T=
c.5685T= (p.Gly1895=)
11g.121160174T>ACA383028286TBCEL-TECTA,TECTAc.4729T>A (p.Leu1577Met)
c.2036T>A
n.665T>A
c.5686T>A (p.Leu1896Met)
11g.121160174T>CCA477383169TBCEL-TECTA,TECTAc.4729T>C (p.Leu1577=)
c.2036T>C
n.665T>C
c.5686T>C (p.Leu1896=)
11g.121160174T>GCA383028288TBCEL-TECTA,TECTAc.4729T>G (p.Leu1577Val)
c.2036T>G
n.665T>G
c.5686T>G (p.Leu1896Val)
11g.121160175T>ACA383028291TBCEL-TECTA,TECTAc.4730T>A (p.Leu1577Ter)
c.2037T>A
n.666T>A
c.5687T>A (p.Leu1896Ter)
11g.121160175T>CCA383028293TBCEL-TECTA,TECTAc.4730T>C (p.Leu1577Ser)
c.2037T>C
n.666T>C
c.5687T>C (p.Leu1896Ser)
11g.121160175T>GCA383028295TBCEL-TECTA,TECTAc.4730T>G (p.Leu1577Trp)
c.2037T>G
n.666T>G
c.5687T>G (p.Leu1896Trp)
11g.121160176G>ACA477383170TBCEL-TECTA,TECTAc.4731G>A (p.Leu1577=)
c.2038G>A
n.667G>A
c.5688G>A (p.Leu1896=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121160176G>CCA383028303TBCEL-TECTA,TECTAc.4731G>C (p.Leu1577Phe)
c.2038G>C
n.667G>C
c.5688G>C (p.Leu1896Phe)
11g.121160176G=CA2004739160TBCEL-TECTA,TECTAc.4731G= (p.Leu1577=)
c.2038G=
n.667G=
c.5688G= (p.Leu1896=)
11g.121160176G>TCA383028307TBCEL-TECTA,TECTAc.4731G>T (p.Leu1577Phe)
c.2038G>T
n.667G>T
c.5688G>T (p.Leu1896Phe)
11g.121160177G>ACA383028315TBCEL-TECTA,TECTAc.4732G>A (p.Ala1578Thr)
c.2039G>A
n.668G>A
c.5689G>A (p.Ala1897Thr)
 gnomAD v4
11g.121160177G>CCA383028311TBCEL-TECTA,TECTAc.4732G>C (p.Ala1578Pro)
c.2039G>C
n.668G>C
c.5689G>C (p.Ala1897Pro)
11g.121160177G>TCA383028313TBCEL-TECTA,TECTAc.4732G>T (p.Ala1578Ser)
c.2039G>T
n.668G>T
c.5689G>T (p.Ala1897Ser)
11g.121160178C>ACA383028317TBCEL-TECTA,TECTAc.4733C>A (p.Ala1578Glu)
c.2040C>A
n.669C>A
c.5690C>A (p.Ala1897Glu)
11g.121160178C=CA2004739162TBCEL-TECTA,TECTAc.4733C= (p.Ala1578=)
c.2040C=
n.669C=
c.5690C= (p.Ala1897=)
11g.121160178C>GCA383028319TBCEL-TECTA,TECTAc.4733C>G (p.Ala1578Gly)
c.2040C>G
n.669C>G
c.5690C>G (p.Ala1897Gly)
11g.121160178C>TCA383028320TBCEL-TECTA,TECTAc.4733C>T (p.Ala1578Val)
c.2040C>T
n.669C>T
c.5690C>T (p.Ala1897Val)
 dbSNP
11g.121160179A>CCA477383174TBCEL-TECTA,TECTAc.4734A>C (p.Ala1578=)
c.2041A>C
n.670A>C
c.5691A>C (p.Ala1897=)
11g.121160179A>GCA477383175TBCEL-TECTA,TECTAc.4734A>G (p.Ala1578=)
c.2041A>G
n.670A>G
c.5691A>G (p.Ala1897=)
11g.121160179A>TCA477383176TBCEL-TECTA,TECTAc.4734A>T (p.Ala1578=)
c.2041A>T
n.670A>T
c.5691A>T (p.Ala1897=)
11g.121160180A>CCA383028322TBCEL-TECTA,TECTAc.4735A>C (p.Thr1579Pro)
c.2042A>C
n.671A>C
c.5692A>C (p.Thr1898Pro)
11g.121160180A>GCA383028324TBCEL-TECTA,TECTAc.4735A>G (p.Thr1579Ala)
c.2042A>G
n.671A>G
c.5692A>G (p.Thr1898Ala)
11g.121160180A>TCA383028327TBCEL-TECTA,TECTAc.4735A>T (p.Thr1579Ser)
c.2042A>T
n.671A>T
c.5692A>T (p.Thr1898Ser)
11g.121160181C>ACA383028329TBCEL-TECTA,TECTAc.4736C>A (p.Thr1579Asn)
c.2043C>A
n.672C>A
c.5693C>A (p.Thr1898Asn)
11g.121160181C>GCA383028331TBCEL-TECTA,TECTAc.4736C>G (p.Thr1579Ser)
c.2043C>G
n.672C>G
c.5693C>G (p.Thr1898Ser)
11g.121160181C>TCA383028334TBCEL-TECTA,TECTAc.4736C>T (p.Thr1579Ile)
c.2043C>T
n.672C>T
c.5693C>T (p.Thr1898Ile)
 gnomAD v4
11g.121160182C>ACA477383177TBCEL-TECTA,TECTAc.4737C>A (p.Thr1579=)
c.2044C>A
n.673C>A
c.5694C>A (p.Thr1898=)
11g.121160182C>GCA477383178TBCEL-TECTA,TECTAc.4737C>G (p.Thr1579=)
c.2044C>G
n.673C>G
c.5694C>G (p.Thr1898=)
11g.121160182C>TCA477383179TBCEL-TECTA,TECTAc.4737C>T (p.Thr1579=)
c.2044C>T
n.673C>T
c.5694C>T (p.Thr1898=)
11g.121160183A>CCA383028335TBCEL-TECTA,TECTAc.4738A>C (p.Lys1580Gln)
c.2045A>C
n.674A>C
c.5695A>C (p.Lys1899Gln)
 ClinVar dbSNP gnomAD v4
11g.121160183A>GCA383028337TBCEL-TECTA,TECTAc.4738A>G (p.Lys1580Glu)
c.2045A>G
n.674A>G
c.5695A>G (p.Lys1899Glu)
11g.121160183A>TCA383028338TBCEL-TECTA,TECTAc.4738A>T (p.Lys1580Ter)
c.2045A>T
n.674A>T
c.5695A>T (p.Lys1899Ter)
11g.121160184A>CCA383028342TBCEL-TECTA,TECTAc.4739A>C (p.Lys1580Thr)
c.2046A>C
n.675A>C
c.5696A>C (p.Lys1899Thr)
11g.121160184A>GCA383028348TBCEL-TECTA,TECTAc.4739A>G (p.Lys1580Arg)
c.2046A>G
n.675A>G
c.5696A>G (p.Lys1899Arg)
11g.121160184A>TCA383028345TBCEL-TECTA,TECTAc.4739A>T (p.Lys1580Ile)
c.2046A>T
n.675A>T
c.5696A>T (p.Lys1899Ile)
11g.121160185A=CA2004739166TBCEL-TECTA,TECTAc.4740A= (p.Lys1580=)
c.2047A=
n.676A=
c.5697A= (p.Lys1899=)
11g.121160185A>CCA6327555TBCEL-TECTA,TECTAc.4740A>C (p.Lys1580Asn)
c.2047A>C
n.676A>C
c.5697A>C (p.Lys1899Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160185A>GCA6327554TBCEL-TECTA,TECTAc.4740A>G (p.Lys1580=)
c.2047A>G
n.676A>G
c.5697A>G (p.Lys1899=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160185A>TCA383028351TBCEL-TECTA,TECTAc.4740A>T (p.Lys1580Asn)
c.2047A>T
n.676A>T
c.5697A>T (p.Lys1899Asn)
11g.121160185_121160186insCACACCCAACACCA2793889334TBCEL-TECTA,TECTAc.4740_4741insCACACCCAACAC (p.Lys1580_Ile1581insHisThrGlnHis)
c.2047_2048insCACACCCAACAC
n.676_677insCACACCCAACAC
c.5697_5698insCACACCCAACAC (p.Lys1899_Ile1900insHisThrGlnHis)
11g.121160186A>CCA383028352TBCEL-TECTA,TECTAc.4741A>C (p.Ile1581Leu)
c.2048A>C
n.677A>C
c.5698A>C (p.Ile1900Leu)
11g.121160186A>GCA383028353TBCEL-TECTA,TECTAc.4741A>G (p.Ile1581Val)
c.2048A>G
n.677A>G
c.5698A>G (p.Ile1900Val)
11g.121160186A>TCA383028354TBCEL-TECTA,TECTAc.4741A>T (p.Ile1581Phe)
c.2048A>T
n.677A>T
c.5698A>T (p.Ile1900Phe)
11g.121160187T>ACA383028355TBCEL-TECTA,TECTAc.4742T>A (p.Ile1581Asn)
c.2049T>A
n.678T>A
c.5699T>A (p.Ile1900Asn)
 gnomAD v4
11g.121160187T>CCA383028356TBCEL-TECTA,TECTAc.4742T>C (p.Ile1581Thr)
c.2049T>C
n.678T>C
c.5699T>C (p.Ile1900Thr)
11g.121160187T>GCA383028357TBCEL-TECTA,TECTAc.4742T>G (p.Ile1581Ser)
c.2049T>G
n.678T>G
c.5699T>G (p.Ile1900Ser)
11g.121160188C>ACA477383183TBCEL-TECTA,TECTAc.4743C>A (p.Ile1581=)
c.2050C>A
n.679C>A
c.5700C>A (p.Ile1900=)
11g.121160188C=CA2004739170TBCEL-TECTA,TECTAc.4743C= (p.Ile1581=)
c.2050C=
n.679C=
c.5700C= (p.Ile1900=)
11g.121160188C>GCA383028359TBCEL-TECTA,TECTAc.4743C>G (p.Ile1581Met)
c.2050C>G
n.679C>G
c.5700C>G (p.Ile1900Met)
 dbSNP gnomAD v3 gnomAD v4
11g.121160188C>TCA477383182TBCEL-TECTA,TECTAc.4743C>T (p.Ile1581=)
c.2050C>T
n.679C>T
c.5700C>T (p.Ile1900=)
 COSMIC
11g.121160189T>ACA383028360TBCEL-TECTA,TECTAc.4744T>A (p.Tyr1582Asn)
c.2051T>A
n.680T>A
c.5701T>A (p.Tyr1901Asn)
11g.121160189T>CCA6327556TBCEL-TECTA,TECTAc.4744T>C (p.Tyr1582His)
c.2051T>C
n.680T>C
c.5701T>C (p.Tyr1901His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160189T>GCA383028364TBCEL-TECTA,TECTAc.4744T>G (p.Tyr1582Asp)
c.2051T>G
n.680T>G
c.5701T>G (p.Tyr1901Asp)
11g.121160189T=CA2004739173TBCEL-TECTA,TECTAc.4744T= (p.Tyr1582=)
c.2051T=
n.680T=
c.5701T= (p.Tyr1901=)
11g.121160190A=CA2004739178TBCEL-TECTA,TECTAc.4745A= (p.Tyr1582=)
c.2052A=
n.681A=
c.5702A= (p.Tyr1901=)
11g.121160190A>CCA383028368TBCEL-TECTA,TECTAc.4745A>C (p.Tyr1582Ser)
c.2052A>C
n.681A>C
c.5702A>C (p.Tyr1901Ser)
11g.121160190A>GCA383028369TBCEL-TECTA,TECTAc.4745A>G (p.Tyr1582Cys)
c.2052A>G
n.681A>G
c.5702A>G (p.Tyr1901Cys)
 dbSNP
11g.121160190A>TCA383028371TBCEL-TECTA,TECTAc.4745A>T (p.Tyr1582Phe)
c.2052A>T
n.681A>T
c.5702A>T (p.Tyr1901Phe)
11g.121160191C>ACA383028374TBCEL-TECTA,TECTAc.4746C>A (p.Tyr1582Ter)
c.2053C>A
n.682C>A
c.5703C>A (p.Tyr1901Ter)
11g.121160191C>GCA383028375TBCEL-TECTA,TECTAc.4746C>G (p.Tyr1582Ter)
c.2053C>G
n.682C>G
c.5703C>G (p.Tyr1901Ter)
11g.121160191C>TCA477383184TBCEL-TECTA,TECTAc.4746C>T (p.Tyr1582=)
c.2053C>T
n.682C>T
c.5703C>T (p.Tyr1901=)
11g.121160192A=CA2004739180TBCEL-TECTA,TECTAc.4747A= (p.Ser1583=)
c.2054A=
n.683A=
c.5704A= (p.Ser1902=)
11g.121160192A>CCA383028376TBCEL-TECTA,TECTAc.4747A>C (p.Ser1583Arg)
c.2054A>C
n.683A>C
c.5704A>C (p.Ser1902Arg)
11g.121160192A>GCA383028377TBCEL-TECTA,TECTAc.4747A>G (p.Ser1583Gly)
c.2054A>G
n.683A>G
c.5704A>G (p.Ser1902Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.121160192A>TCA383028378TBCEL-TECTA,TECTAc.4747A>T (p.Ser1583Cys)
c.2054A>T
n.683A>T
c.5704A>T (p.Ser1902Cys)
11g.121160193G>ACA383028381TBCEL-TECTA,TECTAc.4748G>A (p.Ser1583Asn)
c.2055G>A
n.684G>A
c.5705G>A (p.Ser1902Asn)
 dbSNP gnomAD v3 gnomAD v4
11g.121160193G>CCA383028386TBCEL-TECTA,TECTAc.4748G>C (p.Ser1583Thr)
c.2055G>C
n.684G>C
c.5705G>C (p.Ser1902Thr)
11g.121160193G=CA2004739183TBCEL-TECTA,TECTAc.4748G= (p.Ser1583=)
c.2055G=
n.684G=
c.5705G= (p.Ser1902=)
11g.121160193G>TCA383028389TBCEL-TECTA,TECTAc.4748G>T (p.Ser1583Ile)
c.2055G>T
n.684G>T
c.5705G>T (p.Ser1902Ile)
11g.121160194C>ACA383028391TBCEL-TECTA,TECTAc.4749C>A (p.Ser1583Arg)
c.2056C>A
n.685C>A
c.5706C>A (p.Ser1902Arg)
11g.121160194C>GCA383028393TBCEL-TECTA,TECTAc.4749C>G (p.Ser1583Arg)
c.2056C>G
n.685C>G
c.5706C>G (p.Ser1902Arg)
11g.121160194C>TCA477383186TBCEL-TECTA,TECTAc.4749C>T (p.Ser1583=)
c.2056C>T
n.685C>T
c.5706C>T (p.Ser1902=)
11g.121160195A>CCA383028395TBCEL-TECTA,TECTAc.4750A>C (p.Ser1584Arg)
c.2057A>C
n.686A>C
c.5707A>C (p.Ser1903Arg)
11g.121160195A>GCA383028397TBCEL-TECTA,TECTAc.4750A>G (p.Ser1584Gly)
c.2057A>G
n.686A>G
c.5707A>G (p.Ser1903Gly)
11g.121160195A>TCA383028398TBCEL-TECTA,TECTAc.4750A>T (p.Ser1584Cys)
c.2057A>T
n.686A>T
c.5707A>T (p.Ser1903Cys)
11g.121160196G>ACA383028406TBCEL-TECTA,TECTAc.4751G>A (p.Ser1584Asn)
c.2058G>A
n.687G>A
c.5708G>A (p.Ser1903Asn)
11g.121160196G>CCA136057TBCEL-TECTA,TECTAc.4751G>C (p.Ser1584Thr)
c.2058G>C
n.687G>C
c.5708G>C (p.Ser1903Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160196G=CA2004739187TBCEL-TECTA,TECTAc.4751G= (p.Ser1584=)
c.2058G=
n.687G=
c.5708G= (p.Ser1903=)
11g.121160196G>TCA383028402TBCEL-TECTA,TECTAc.4751G>T (p.Ser1584Ile)
c.2058G>T
n.687G>T
c.5708G>T (p.Ser1903Ile)
11g.121160197T>ACA383028413TBCEL-TECTA,TECTAc.4752T>A (p.Ser1584Arg)
c.2059T>A
n.688T>A
c.5709T>A (p.Ser1903Arg)
11g.121160197T>CCA477383187TBCEL-TECTA,TECTAc.4752T>C (p.Ser1584=)
c.2059T>C
n.688T>C
c.5709T>C (p.Ser1903=)
11g.121160197T>GCA383028410TBCEL-TECTA,TECTAc.4752T>G (p.Ser1584Arg)
c.2059T>G
n.688T>G
c.5709T>G (p.Ser1903Arg)
11g.121160198G>ACA383028416TBCEL-TECTA,TECTAc.4753G>A (p.Glu1585Lys)
c.2060G>A
n.689G>A
c.5710G>A (p.Glu1904Lys)
 gnomAD v4
11g.121160198G>CCA383028418TBCEL-TECTA,TECTAc.4753G>C (p.Glu1585Gln)
c.2060G>C
n.689G>C
c.5710G>C (p.Glu1904Gln)
11g.121160198G>TCA383028420TBCEL-TECTA,TECTAc.4753G>T (p.Glu1585Ter)
c.2060G>T
n.689G>T
c.5710G>T (p.Glu1904Ter)
11g.121160199A>CCA383028424TBCEL-TECTA,TECTAc.4754A>C (p.Glu1585Ala)
c.2061A>C
n.690A>C
c.5711A>C (p.Glu1904Ala)
11g.121160199A>GCA383028428TBCEL-TECTA,TECTAc.4754A>G (p.Glu1585Gly)
c.2061A>G
n.690A>G
c.5711A>G (p.Glu1904Gly)
11g.121160199A>TCA383028431TBCEL-TECTA,TECTAc.4754A>T (p.Glu1585Val)
c.2061A>T
n.690A>T
c.5711A>T (p.Glu1904Val)
11g.121160200G>ACA477383191TBCEL-TECTA,TECTAc.4755G>A (p.Glu1585=)
c.2062G>A
n.691G>A
c.5712G>A (p.Glu1904=)
11g.121160200G>CCA383028432TBCEL-TECTA,TECTAc.4755G>C (p.Glu1585Asp)
c.2062G>C
n.691G>C
c.5712G>C (p.Glu1904Asp)
11g.121160200G>TCA383028436TBCEL-TECTA,TECTAc.4755G>T (p.Glu1585Asp)
c.2062G>T
n.691G>T
c.5712G>T (p.Glu1904Asp)
11g.121160201G>ACA383028439TBCEL-TECTA,TECTAc.4756G>A (p.Gly1586Arg)
c.2063G>A
n.692G>A
c.5713G>A (p.Gly1905Arg)
11g.121160201G>CCA383028443TBCEL-TECTA,TECTAc.4756G>C (p.Gly1586Arg)
c.2063G>C
n.692G>C
c.5713G>C (p.Gly1905Arg)
11g.121160201G>TCA383028446TBCEL-TECTA,TECTAc.4756G>T (p.Gly1586Trp)
c.2063G>T
n.692G>T
c.5713G>T (p.Gly1905Trp)
11g.121160202G>ACA383028452TBCEL-TECTA,TECTAc.4757G>A (p.Gly1586Glu)
c.2064G>A
n.693G>A
c.5714G>A (p.Gly1905Glu)
11g.121160202G>CCA383028453TBCEL-TECTA,TECTAc.4757G>C (p.Gly1586Ala)
c.2064G>C
n.693G>C
c.5714G>C (p.Gly1905Ala)
11g.121160202G>TCA383028449TBCEL-TECTA,TECTAc.4757G>T (p.Gly1586Val)
c.2064G>T
n.693G>T
c.5714G>T (p.Gly1905Val)
11g.121160203G>ACA477383193TBCEL-TECTA,TECTAc.4758G>A (p.Gly1586=)
c.2065G>A
n.694G>A
c.5715G>A (p.Gly1905=)
11g.121160203G>CCA477383194TBCEL-TECTA,TECTAc.4758G>C (p.Gly1586=)
c.2065G>C
n.694G>C
c.5715G>C (p.Gly1905=)
11g.121160203G>TCA477383195TBCEL-TECTA,TECTAc.4758G>T (p.Gly1586=)
c.2065G>T
n.694G>T
c.5715G>T (p.Gly1905=)
 gnomAD v4
11g.121160204T>ACA383028455TBCEL-TECTA,TECTAc.4759T>A (p.Phe1587Ile)
c.2066T>A
n.695T>A
c.5716T>A (p.Phe1906Ile)
 gnomAD v4
11g.121160204T>CCA383028457TBCEL-TECTA,TECTAc.4759T>C (p.Phe1587Leu)
c.2066T>C
n.695T>C
c.5716T>C (p.Phe1906Leu)
11g.121160204T>GCA383028459TBCEL-TECTA,TECTAc.4759T>G (p.Phe1587Val)
c.2066T>G
n.695T>G
c.5716T>G (p.Phe1906Val)
11g.121160205T>ACA383028463TBCEL-TECTA,TECTAc.4760T>A (p.Phe1587Tyr)
c.2067T>A
n.696T>A
c.5717T>A (p.Phe1906Tyr)
11g.121160205T>CCA383028465TBCEL-TECTA,TECTAc.4760T>C (p.Phe1587Ser)
c.2067T>C
n.696T>C
c.5717T>C (p.Phe1906Ser)
11g.121160205T>GCA383028467TBCEL-TECTA,TECTAc.4760T>G (p.Phe1587Cys)
c.2067T>G
n.696T>G
c.5717T>G (p.Phe1906Cys)
11g.121160206T>ACA383028468TBCEL-TECTA,TECTAc.4761T>A (p.Phe1587Leu)
c.2068T>A
n.697T>A
c.5718T>A (p.Phe1906Leu)
11g.121160206T>CCA229846045TBCEL-TECTA,TECTAc.4761T>C (p.Phe1587=)
c.2068T>C
n.697T>C
c.5718T>C (p.Phe1906=)
 dbSNP
11g.121160206T>GCA383028470TBCEL-TECTA,TECTAc.4761T>G (p.Phe1587Leu)
c.2068T>G
n.697T>G
c.5718T>G (p.Phe1906Leu)
11g.121160206T=CA2004739190TBCEL-TECTA,TECTAc.4761T= (p.Phe1587=)
c.2068T=
n.697T=
c.5718T= (p.Phe1906=)
11g.121160207C>ACA383028474TBCEL-TECTA,TECTAc.4762C>A (p.Leu1588Met)
c.2069C>A
n.698C>A
c.5719C>A (p.Leu1907Met)
11g.121160207C>GCA383028476TBCEL-TECTA,TECTAc.4762C>G (p.Leu1588Val)
c.2069C>G
n.698C>G
c.5719C>G (p.Leu1907Val)
11g.121160207C>TCA477383196TBCEL-TECTA,TECTAc.4762C>T (p.Leu1588=)
c.2069C>T
n.698C>T
c.5719C>T (p.Leu1907=)
11g.121160208T>ACA383028481TBCEL-TECTA,TECTAc.4763T>A (p.Leu1588Gln)
c.2070T>A
n.699T>A
c.5720T>A (p.Leu1907Gln)
11g.121160208T>CCA383028482TBCEL-TECTA,TECTAc.4763T>C (p.Leu1588Pro)
c.2070T>C
n.699T>C
c.5720T>C (p.Leu1907Pro)
11g.121160208T>GCA383028486TBCEL-TECTA,TECTAc.4763T>G (p.Leu1588Arg)
c.2070T>G
n.699T>G
c.5720T>G (p.Leu1907Arg)
11g.121160209G>ACA477383198TBCEL-TECTA,TECTAc.4764G>A (p.Leu1588=)
c.2071G>A
n.700G>A
c.5721G>A (p.Leu1907=)
 gnomAD v4
11g.121160209G>CCA6327557TBCEL-TECTA,TECTAc.4764G>C (p.Leu1588=)
c.2071G>C
n.700G>C
c.5721G>C (p.Leu1907=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160209G=CA2004739192TBCEL-TECTA,TECTAc.4764G= (p.Leu1588=)
c.2071G=
n.700G=
c.5721G= (p.Leu1907=)
11g.121160209G>TCA477383199TBCEL-TECTA,TECTAc.4764G>T (p.Leu1588=)
c.2071G>T
n.700G>T
c.5721G>T (p.Leu1907=)
11g.121160210G>ACA383028508TBCEL-TECTA,TECTAc.4765G>A (p.Val1589Met)
c.2072G>A
n.701G>A
c.5722G>A (p.Val1908Met)
 dbSNP gnomAD v2 gnomAD v4
11g.121160210G>CCA383028494TBCEL-TECTA,TECTAc.4765G>C (p.Val1589Leu)
c.2072G>C
n.701G>C
c.5722G>C (p.Val1908Leu)
 dbSNP gnomAD v4
11g.121160210G=CA2004739195TBCEL-TECTA,TECTAc.4765G= (p.Val1589=)
c.2072G=
n.701G=
c.5722G= (p.Val1908=)
11g.121160210G>TCA383028492TBCEL-TECTA,TECTAc.4765G>T (p.Val1589Leu)
c.2072G>T
n.701G>T
c.5722G>T (p.Val1908Leu)
11g.121160211T>ACA383028510TBCEL-TECTA,TECTAc.4766T>A (p.Val1589Glu)
c.2073T>A
n.702T>A
c.5723T>A (p.Val1908Glu)
11g.121160211T>CCA383028512TBCEL-TECTA,TECTAc.4766T>C (p.Val1589Ala)
c.2073T>C
n.702T>C
c.5723T>C (p.Val1908Ala)
11g.121160211T>GCA383028533TBCEL-TECTA,TECTAc.4766T>G (p.Val1589Gly)
c.2073T>G
n.702T>G
c.5723T>G (p.Val1908Gly)
11g.121160212G>ACA6327558TBCEL-TECTA,TECTAc.4767G>A (p.Val1589=)
c.2074G>A
n.703G>A
c.5724G>A (p.Val1908=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160212G>CCA477383200TBCEL-TECTA,TECTAc.4767G>C (p.Val1589=)
c.2074G>C
n.703G>C
c.5724G>C (p.Val1908=)
11g.121160212G=CA2004739197TBCEL-TECTA,TECTAc.4767G= (p.Val1589=)
c.2074G=
n.703G=
c.5724G= (p.Val1908=)
11g.121160212G>TCA477383201TBCEL-TECTA,TECTAc.4767G>T (p.Val1589=)
c.2074G>T
n.703G>T
c.5724G>T (p.Val1908=)
11g.121160213A=CA2004739199TBCEL-TECTA,TECTAc.4768A= (p.Ile1590=)
c.2075A=
n.704A=
c.5725A= (p.Ile1909=)
11g.121160213A>CCA383028536TBCEL-TECTA,TECTAc.4768A>C (p.Ile1590Leu)
c.2075A>C
n.704A>C
c.5725A>C (p.Ile1909Leu)
11g.121160213A>GCA6327559TBCEL-TECTA,TECTAc.4768A>G (p.Ile1590Val)
c.2075A>G
n.704A>G
c.5725A>G (p.Ile1909Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160213A>TCA383028538TBCEL-TECTA,TECTAc.4768A>T (p.Ile1590Phe)
c.2075A>T
n.704A>T
c.5725A>T (p.Ile1909Phe)
11g.121160214T>ACA383028540TBCEL-TECTA,TECTAc.4769T>A (p.Ile1590Asn)
c.2076T>A
n.705T>A
c.5726T>A (p.Ile1909Asn)
11g.121160214T>CCA383028546TBCEL-TECTA,TECTAc.4769T>C (p.Ile1590Thr)
c.2076T>C
n.705T>C
c.5726T>C (p.Ile1909Thr)
11g.121160214T>GCA383028543TBCEL-TECTA,TECTAc.4769T>G (p.Ile1590Ser)
c.2076T>G
n.705T>G
c.5726T>G (p.Ile1909Ser)
11g.121160215T>ACA477383202TBCEL-TECTA,TECTAc.4770T>A (p.Ile1590=)
c.2077T>A
n.706T>A
c.5727T>A (p.Ile1909=)
11g.121160215T>CCA477383203TBCEL-TECTA,TECTAc.4770T>C (p.Ile1590=)
c.2077T>C
n.706T>C
c.5727T>C (p.Ile1909=)
11g.121160215T>GCA383028547TBCEL-TECTA,TECTAc.4770T>G (p.Ile1590Met)
c.2077T>G
n.706T>G
c.5727T>G (p.Ile1909Met)
11g.121160216G>ACA383028550TBCEL-TECTA,TECTAc.4771G>A (p.Asp1591Asn)
c.2078G>A
n.707G>A
c.5728G>A (p.Asp1910Asn)
11g.121160216G>CCA6327560TBCEL-TECTA,TECTAc.4771G>C (p.Asp1591His)
c.2078G>C
n.707G>C
c.5728G>C (p.Asp1910His)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160216G=CA2004739202TBCEL-TECTA,TECTAc.4771G= (p.Asp1591=)
c.2078G=
n.707G=
c.5728G= (p.Asp1910=)
11g.121160216G>TCA383028552TBCEL-TECTA,TECTAc.4771G>T (p.Asp1591Tyr)
c.2078G>T
n.707G>T
c.5728G>T (p.Asp1910Tyr)
11g.121160217A>CCA383028563TBCEL-TECTA,TECTAc.4772A>C (p.Asp1591Ala)
c.2079A>C
n.708A>C
c.5729A>C (p.Asp1910Ala)
11g.121160217A>GCA383028558TBCEL-TECTA,TECTAc.4772A>G (p.Asp1591Gly)
c.2079A>G
n.708A>G
c.5729A>G (p.Asp1910Gly)
11g.121160217A>TCA383028560TBCEL-TECTA,TECTAc.4772A>T (p.Asp1591Val)
c.2079A>T
n.708A>T
c.5729A>T (p.Asp1910Val)
11g.121160218C>ACA383028565TBCEL-TECTA,TECTAc.4773C>A (p.Asp1591Glu)
c.2080C>A
n.709C>A
c.5730C>A (p.Asp1910Glu)
11g.121160218C>GCA383028568TBCEL-TECTA,TECTAc.4773C>G (p.Asp1591Glu)
c.2080C>G
n.709C>G
c.5730C>G (p.Asp1910Glu)
11g.121160218C>TCA477383205TBCEL-TECTA,TECTAc.4773C>T (p.Asp1591=)
c.2080C>T
n.709C>T
c.5730C>T (p.Asp1910=)
 gnomAD v4
11g.121160219A>CCA383028572TBCEL-TECTA,TECTAc.4774A>C (p.Thr1592Pro)
c.2081A>C
n.710A>C
c.5731A>C (p.Thr1911Pro)
11g.121160219A>GCA383028574TBCEL-TECTA,TECTAc.4774A>G (p.Thr1592Ala)
c.2081A>G
n.710A>G
c.5731A>G (p.Thr1911Ala)
11g.121160219A>TCA383028577TBCEL-TECTA,TECTAc.4774A>T (p.Thr1592Ser)
c.2081A>T
n.710A>T
c.5731A>T (p.Thr1911Ser)
11g.121160220C>ACA6327561TBCEL-TECTA,TECTAc.4775C>A (p.Thr1592Asn)
c.2082C>A
n.711C>A
c.5732C>A (p.Thr1911Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160220C=CA2004739204TBCEL-TECTA,TECTAc.4775C= (p.Thr1592=)
c.2082C=
n.711C=
c.5732C= (p.Thr1911=)
11g.121160220C>GCA383028582TBCEL-TECTA,TECTAc.4775C>G (p.Thr1592Ser)
c.2082C>G
n.711C>G
c.5732C>G (p.Thr1911Ser)
 gnomAD v4
11g.121160220C>TCA383028585TBCEL-TECTA,TECTAc.4775C>T (p.Thr1592Ile)
c.2082C>T
n.711C>T
c.5732C>T (p.Thr1911Ile)
11g.121160221C>ACA477383207TBCEL-TECTA,TECTAc.4776C>A (p.Thr1592=)
c.2083C>A
n.712C>A
c.5733C>A (p.Thr1911=)
 gnomAD v4
11g.121160221C=CA2004739208TBCEL-TECTA,TECTAc.4776C= (p.Thr1592=)
c.2083C=
n.712C=
c.5733C= (p.Thr1911=)
11g.121160221C>GCA477383208TBCEL-TECTA,TECTAc.4776C>G (p.Thr1592=)
c.2083C>G
n.712C>G
c.5733C>G (p.Thr1911=)
11g.121160221C>TCA6327562TBCEL-TECTA,TECTAc.4776C>T (p.Thr1592=)
c.2083C>T
n.712C>T
c.5733C>T (p.Thr1911=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121160222A>CCA383028590TBCEL-TECTA,TECTAc.4777A>C (p.Ser1593Arg)
c.2084A>C
n.713A>C
c.5734A>C (p.Ser1912Arg)
11g.121160222A>GCA383028591TBCEL-TECTA,TECTAc.4777A>G (p.Ser1593Gly)
c.2084A>G
n.713A>G
c.5734A>G (p.Ser1912Gly)
11g.121160222A>TCA383028597TBCEL-TECTA,TECTAc.4777A>T (p.Ser1593Cys)
c.2084A>T
n.713A>T
c.5734A>T (p.Ser1912Cys)
11g.121160223G>ACA383028603TBCEL-TECTA,TECTAc.4778G>A (p.Ser1593Asn)
c.2085G>A
n.714G>A
c.5735G>A (p.Ser1912Asn)
 ClinVar gnomAD v4
11g.121160223G>CCA383028599TBCEL-TECTA,TECTAc.4778G>C (p.Ser1593Thr)
c.2085G>C
n.714G>C
c.5735G>C (p.Ser1912Thr)
11g.121160223G=CA2004739210TBCEL-TECTA,TECTAc.4778G= (p.Ser1593=)
c.2085G=
n.714G=
c.5735G= (p.Ser1912=)
11g.121160223G>TCA6327563TBCEL-TECTA,TECTAc.4778G>T (p.Ser1593Ile)
c.2085G>T
n.714G>T
c.5735G>T (p.Ser1912Ile)
 dbSNP ExAC gnomAD v2
11g.121160224C>ACA383028605TBCEL-TECTA,TECTAc.4779C>A (p.Ser1593Arg)
c.2086C>A
n.715C>A
c.5736C>A (p.Ser1912Arg)
11g.121160224C>GCA383028607TBCEL-TECTA,TECTAc.4779C>G (p.Ser1593Arg)
c.2086C>G
n.715C>G
c.5736C>G (p.Ser1912Arg)
11g.121160224C>TCA477383210TBCEL-TECTA,TECTAc.4779C>T (p.Ser1593=)
c.2086C>T
n.715C>T
c.5736C>T (p.Ser1912=)
11g.121160226dupCA477383211TBCEL-TECTA,TECTAc.4781dup (p.Asp1595ArgfsTer13)
c.2088dup
n.717dup
c.5738dup (p.Asp1914ArgfsTer13)
11g.121160224_121160232delinsCCCAGACATCA2004739212TBCEL-TECTA,TECTAc.4779_4787delinsCCCAGACAT (p.Ser1593=)
c.2086_2094delinsCCCAGACAT
n.715_723delinsCCCAGACAT
c.5736_5744delinsCCCAGACAT (p.Ser1912=)
11g.121160225C>ACA383028608TBCEL-TECTA,TECTAc.4780C>A (p.Pro1594Thr)
c.2087C>A
n.716C>A
c.5737C>A (p.Pro1913Thr)
 dbSNP
11g.121160225C=CA2004739216TBCEL-TECTA,TECTAc.4780C= (p.Pro1594=)
c.2087C=
n.716C=
c.5737C= (p.Pro1913=)
11g.121160225C>GCA383028610TBCEL-TECTA,TECTAc.4780C>G (p.Pro1594Ala)
c.2087C>G
n.716C>G
c.5737C>G (p.Pro1913Ala)
11g.121160225C>TCA383028613TBCEL-TECTA,TECTAc.4780C>T (p.Pro1594Ser)
c.2087C>T
n.716C>T
c.5737C>T (p.Pro1913Ser)
11g.121160230_121160237delCA6327564TBCEL-TECTA,TECTAc.4785_4792del (p.Gln1597LeufsTer8)
c.2092_2099del
n.721_728del
c.5742_5749del (p.Gln1916LeufsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121160226C>ACA6327565TBCEL-TECTA,TECTAc.4781C>A (p.Pro1594Gln)
c.2088C>A
n.717C>A
c.5738C>A (p.Pro1913Gln)
 dbSNP ExAC gnomAD v2
11g.121160226C=CA2004739219TBCEL-TECTA,TECTAc.4781C= (p.Pro1594=)
c.2088C=
n.717C=
c.5738C= (p.Pro1913=)
11g.121160226C>GCA383028617TBCEL-TECTA,TECTAc.4781C>G (p.Pro1594Arg)
c.2088C>G
n.717C>G
c.5738C>G (p.Pro1913Arg)
11g.121160226C>TCA383028619TBCEL-TECTA,TECTAc.4781C>T (p.Pro1594Leu)
c.2088C>T
n.717C>T
c.5738C>T (p.Pro1913Leu)
11g.121160227A>CCA477383212TBCEL-TECTA,TECTAc.4782A>C (p.Pro1594=)
c.2089A>C
n.718A>C
c.5739A>C (p.Pro1913=)
11g.121160227A>GCA477383215TBCEL-TECTA,TECTAc.4782A>G (p.Pro1594=)
c.2089A>G
n.718A>G
c.5739A>G (p.Pro1913=)
 gnomAD v4
11g.121160227A>TCA477383213TBCEL-TECTA,TECTAc.4782A>T (p.Pro1594=)
c.2089A>T
n.718A>T
c.5739A>T (p.Pro1913=)
11g.121160228G>ACA383028625TBCEL-TECTA,TECTAc.4783G>A (p.Asp1595Asn)
c.2090G>A
n.719G>A
c.5740G>A (p.Asp1914Asn)
11g.121160228G>CCA383028626TBCEL-TECTA,TECTAc.4783G>C (p.Asp1595His)
c.2090G>C
n.719G>C
c.5740G>C (p.Asp1914His)
11g.121160228G>TCA383028629TBCEL-TECTA,TECTAc.4783G>T (p.Asp1595Tyr)
c.2090G>T
n.719G>T
c.5740G>T (p.Asp1914Tyr)
11g.121160228_121160229delinsGACA2004739221TBCEL-TECTA,TECTAc.4783_4784delinsGA (p.Asp1595=)
c.2090_2091delinsGA
n.719_720delinsGA
c.5740_5741delinsGA (p.Asp1914=)
11g.121160229delCA602580299TBCEL-TECTA,TECTAc.4784del (p.Asp1595AlafsTer?)
c.2091del
n.720del
c.5741del (p.Asp1914AlafsTer?)
 dbSNP gnomAD v2 gnomAD v4
11g.121160229A>CCA383028640TBCEL-TECTA,TECTAc.4784A>C (p.Asp1595Ala)
c.2091A>C
n.720A>C
c.5741A>C (p.Asp1914Ala)
11g.121160229A>GCA383028635TBCEL-TECTA,TECTAc.4784A>G (p.Asp1595Gly)
c.2091A>G
n.720A>G
c.5741A>G (p.Asp1914Gly)
11g.121160229A>TCA383028632TBCEL-TECTA,TECTAc.4784A>T (p.Asp1595Val)
c.2091A>T
n.720A>T
c.5741A>T (p.Asp1914Val)

Number of alleles fetched