Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22272837C>ACA379923721ANO5n.100C>A
c.1633C>A (p.Leu545Ile)
c.2041C>A (p.Leu681Ile)
n.3077C>A
c.2038C>A (p.Leu680Ile)
c.2083C>A (p.Leu695Ile)
n.2418C>A
c.2080C>A (p.Leu694Ile)
c.2005C>A (p.Leu669Ile)
c.2002C>A (p.Leu668Ile)
c.1990C>A (p.Leu664Ile)
11g.22272837C>GCA379923723ANO5n.100C>G
c.1633C>G (p.Leu545Val)
c.2041C>G (p.Leu681Val)
n.3077C>G
c.2038C>G (p.Leu680Val)
c.2083C>G (p.Leu695Val)
n.2418C>G
c.2080C>G (p.Leu694Val)
c.2005C>G (p.Leu669Val)
c.2002C>G (p.Leu668Val)
c.1990C>G (p.Leu664Val)
11g.22272837C>TCA379923724ANO5n.100C>T
c.1633C>T (p.Leu545Phe)
c.2041C>T (p.Leu681Phe)
n.3077C>T
c.2038C>T (p.Leu680Phe)
c.2083C>T (p.Leu695Phe)
n.2418C>T
c.2080C>T (p.Leu694Phe)
c.2005C>T (p.Leu669Phe)
c.2002C>T (p.Leu668Phe)
c.1990C>T (p.Leu664Phe)
gnomAD v4
11g.22272838T>ACA379923726ANO5n.101T>A
c.1634T>A (p.Leu545His)
c.2042T>A (p.Leu681His)
n.3078T>A
c.2039T>A (p.Leu680His)
c.2084T>A (p.Leu695His)
n.2419T>A
c.2081T>A (p.Leu694His)
c.2006T>A (p.Leu669His)
c.2003T>A (p.Leu668His)
c.1991T>A (p.Leu664His)
11g.22272838T>CCA379923728ANO5n.101T>C
c.1634T>C (p.Leu545Pro)
c.2042T>C (p.Leu681Pro)
n.3078T>C
c.2039T>C (p.Leu680Pro)
c.2084T>C (p.Leu695Pro)
n.2419T>C
c.2081T>C (p.Leu694Pro)
c.2006T>C (p.Leu669Pro)
c.2003T>C (p.Leu668Pro)
c.1991T>C (p.Leu664Pro)
11g.22272838T>GCA379923729ANO5n.101T>G
c.1634T>G (p.Leu545Arg)
c.2042T>G (p.Leu681Arg)
n.3078T>G
c.2039T>G (p.Leu680Arg)
c.2084T>G (p.Leu695Arg)
n.2419T>G
c.2081T>G (p.Leu694Arg)
c.2006T>G (p.Leu669Arg)
c.2003T>G (p.Leu668Arg)
c.1991T>G (p.Leu664Arg)
11g.22272839T>ACA473407506ANO5n.102T>A
c.1635T>A (p.Leu545=)
c.2043T>A (p.Leu681=)
n.3079T>A
c.2040T>A (p.Leu680=)
c.2085T>A (p.Leu695=)
n.2420T>A
c.2082T>A (p.Leu694=)
c.2007T>A (p.Leu669=)
c.2004T>A (p.Leu668=)
c.1992T>A (p.Leu664=)
COSMIC
11g.22272839T>CCA473407507ANO5n.102T>C
c.1635T>C (p.Leu545=)
c.2043T>C (p.Leu681=)
n.3079T>C
c.2040T>C (p.Leu680=)
c.2085T>C (p.Leu695=)
n.2420T>C
c.2082T>C (p.Leu694=)
c.2007T>C (p.Leu669=)
c.2004T>C (p.Leu668=)
c.1992T>C (p.Leu664=)
dbSNP gnomAD v4
11g.22272839T>GCA473407508ANO5n.102T>G
c.1635T>G (p.Leu545=)
c.2043T>G (p.Leu681=)
n.3079T>G
c.2040T>G (p.Leu680=)
c.2085T>G (p.Leu695=)
n.2420T>G
c.2082T>G (p.Leu694=)
c.2007T>G (p.Leu669=)
c.2004T>G (p.Leu668=)
c.1992T>G (p.Leu664=)
11g.22272839T=CA1957402803ANO5n.102T=
c.1635T= (p.Leu545=)
c.2043T= (p.Leu681=)
n.3079T=
c.2040T= (p.Leu680=)
c.2085T= (p.Leu695=)
n.2420T=
c.2082T= (p.Leu694=)
c.2007T= (p.Leu669=)
c.2004T= (p.Leu668=)
c.1992T= (p.Leu664=)
11g.22272840C>ACA379923730ANO5n.103C>A
c.1636C>A (p.Leu546Ile)
c.2044C>A (p.Leu682Ile)
n.3080C>A
c.2041C>A (p.Leu681Ile)
c.2086C>A (p.Leu696Ile)
n.2421C>A
c.2083C>A (p.Leu695Ile)
c.2008C>A (p.Leu670Ile)
c.2005C>A (p.Leu669Ile)
c.1993C>A (p.Leu665Ile)
11g.22272840C>GCA379923733ANO5n.103C>G
c.1636C>G (p.Leu546Val)
c.2044C>G (p.Leu682Val)
n.3080C>G
c.2041C>G (p.Leu681Val)
c.2086C>G (p.Leu696Val)
n.2421C>G
c.2083C>G (p.Leu695Val)
c.2008C>G (p.Leu670Val)
c.2005C>G (p.Leu669Val)
c.1993C>G (p.Leu665Val)
gnomAD v4
11g.22272840C>TCA379923732ANO5n.103C>T
c.1636C>T (p.Leu546Phe)
c.2044C>T (p.Leu682Phe)
n.3080C>T
c.2041C>T (p.Leu681Phe)
c.2086C>T (p.Leu696Phe)
n.2421C>T
c.2083C>T (p.Leu695Phe)
c.2008C>T (p.Leu670Phe)
c.2005C>T (p.Leu669Phe)
c.1993C>T (p.Leu665Phe)
COSMIC
11g.22272841T>ACA379923734ANO5n.104T>A
c.1637T>A (p.Leu546His)
c.2045T>A (p.Leu682His)
n.3081T>A
c.2042T>A (p.Leu681His)
c.2087T>A (p.Leu696His)
n.2422T>A
c.2084T>A (p.Leu695His)
c.2009T>A (p.Leu670His)
c.2006T>A (p.Leu669His)
c.1994T>A (p.Leu665His)
gnomAD v4
11g.22272841T>CCA218775800ANO5n.104T>C
c.1637T>C (p.Leu546Pro)
c.2045T>C (p.Leu682Pro)
n.3081T>C
c.2042T>C (p.Leu681Pro)
c.2087T>C (p.Leu696Pro)
n.2422T>C
c.2084T>C (p.Leu695Pro)
c.2009T>C (p.Leu670Pro)
c.2006T>C (p.Leu669Pro)
c.1994T>C (p.Leu665Pro)
dbSNP
11g.22272841T>GCA379923736ANO5n.104T>G
c.1637T>G (p.Leu546Arg)
c.2045T>G (p.Leu682Arg)
n.3081T>G
c.2042T>G (p.Leu681Arg)
c.2087T>G (p.Leu696Arg)
n.2422T>G
c.2084T>G (p.Leu695Arg)
c.2009T>G (p.Leu670Arg)
c.2006T>G (p.Leu669Arg)
c.1994T>G (p.Leu665Arg)
11g.22272841T=CA1957402810ANO5n.104T=
c.1637T= (p.Leu546=)
c.2045T= (p.Leu682=)
n.3081T=
c.2042T= (p.Leu681=)
c.2087T= (p.Leu696=)
n.2422T=
c.2084T= (p.Leu695=)
c.2009T= (p.Leu670=)
c.2006T= (p.Leu669=)
c.1994T= (p.Leu665=)
11g.22272842T>ACA473407509ANO5n.105T>A
c.1638T>A (p.Leu546=)
c.2046T>A (p.Leu682=)
n.3082T>A
c.2043T>A (p.Leu681=)
c.2088T>A (p.Leu696=)
n.2423T>A
c.2085T>A (p.Leu695=)
c.2010T>A (p.Leu670=)
c.2007T>A (p.Leu669=)
c.1995T>A (p.Leu665=)
11g.22272842T>CCA5923454ANO5n.105T>C
c.1638T>C (p.Leu546=)
c.2046T>C (p.Leu682=)
n.3082T>C
c.2043T>C (p.Leu681=)
c.2088T>C (p.Leu696=)
n.2423T>C
c.2085T>C (p.Leu695=)
c.2010T>C (p.Leu670=)
c.2007T>C (p.Leu669=)
c.1995T>C (p.Leu665=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272842T>GCA473407510ANO5n.105T>G
c.1638T>G (p.Leu546=)
c.2046T>G (p.Leu682=)
n.3082T>G
c.2043T>G (p.Leu681=)
c.2088T>G (p.Leu696=)
n.2423T>G
c.2085T>G (p.Leu695=)
c.2010T>G (p.Leu670=)
c.2007T>G (p.Leu669=)
c.1995T>G (p.Leu665=)
11g.22272842T=CA1957402818ANO5n.105T=
c.1638T= (p.Leu546=)
c.2046T= (p.Leu682=)
n.3082T=
c.2043T= (p.Leu681=)
c.2088T= (p.Leu696=)
n.2423T=
c.2085T= (p.Leu695=)
c.2010T= (p.Leu670=)
c.2007T= (p.Leu669=)
c.1995T= (p.Leu665=)
11g.22272843G>ACA379923739ANO5n.106G>A
c.1639G>A (p.Ala547Thr)
c.2047G>A (p.Ala683Thr)
n.3083G>A
c.2044G>A (p.Ala682Thr)
c.2089G>A (p.Ala697Thr)
n.2424G>A
c.2086G>A (p.Ala696Thr)
c.2011G>A (p.Ala671Thr)
c.2008G>A (p.Ala670Thr)
c.1996G>A (p.Ala666Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22272843G>CCA379923740ANO5n.106G>C
c.1639G>C (p.Ala547Pro)
c.2047G>C (p.Ala683Pro)
n.3083G>C
c.2044G>C (p.Ala682Pro)
c.2089G>C (p.Ala697Pro)
n.2424G>C
c.2086G>C (p.Ala696Pro)
c.2011G>C (p.Ala671Pro)
c.2008G>C (p.Ala670Pro)
c.1996G>C (p.Ala666Pro)
11g.22272843G=CA1957402852ANO5n.106G=
c.1639G= (p.Ala547=)
c.2047G= (p.Ala683=)
n.3083G=
c.2044G= (p.Ala682=)
c.2089G= (p.Ala697=)
n.2424G=
c.2086G= (p.Ala696=)
c.2011G= (p.Ala671=)
c.2008G= (p.Ala670=)
c.1996G= (p.Ala666=)
11g.22272843G>TCA379923741ANO5n.106G>T
c.1639G>T (p.Ala547Ser)
c.2047G>T (p.Ala683Ser)
n.3083G>T
c.2044G>T (p.Ala682Ser)
c.2089G>T (p.Ala697Ser)
n.2424G>T
c.2086G>T (p.Ala696Ser)
c.2011G>T (p.Ala671Ser)
c.2008G>T (p.Ala670Ser)
c.1996G>T (p.Ala666Ser)
11g.22272844C>ACA379923743ANO5n.107C>A
c.1640C>A (p.Ala547Asp)
c.2048C>A (p.Ala683Asp)
n.3084C>A
c.2045C>A (p.Ala682Asp)
c.2090C>A (p.Ala697Asp)
n.2425C>A
c.2087C>A (p.Ala696Asp)
c.2012C>A (p.Ala671Asp)
c.2009C>A (p.Ala670Asp)
c.1997C>A (p.Ala666Asp)
11g.22272844C>GCA379923745ANO5n.107C>G
c.1640C>G (p.Ala547Gly)
c.2048C>G (p.Ala683Gly)
n.3084C>G
c.2045C>G (p.Ala682Gly)
c.2090C>G (p.Ala697Gly)
n.2425C>G
c.2087C>G (p.Ala696Gly)
c.2012C>G (p.Ala671Gly)
c.2009C>G (p.Ala670Gly)
c.1997C>G (p.Ala666Gly)
11g.22272844C>TCA379923746ANO5n.107C>T
c.1640C>T (p.Ala547Val)
c.2048C>T (p.Ala683Val)
n.3084C>T
c.2045C>T (p.Ala682Val)
c.2090C>T (p.Ala697Val)
n.2425C>T
c.2087C>T (p.Ala696Val)
c.2012C>T (p.Ala671Val)
c.2009C>T (p.Ala670Val)
c.1997C>T (p.Ala666Val)
11g.22272845T>ACA473407511ANO5n.108T>A
c.1641T>A (p.Ala547=)
c.2049T>A (p.Ala683=)
n.3085T>A
c.2046T>A (p.Ala682=)
c.2091T>A (p.Ala697=)
n.2426T>A
c.2088T>A (p.Ala696=)
c.2013T>A (p.Ala671=)
c.2010T>A (p.Ala670=)
c.1998T>A (p.Ala666=)
11g.22272845T>CCA473407513ANO5n.108T>C
c.1641T>C (p.Ala547=)
c.2049T>C (p.Ala683=)
n.3085T>C
c.2046T>C (p.Ala682=)
c.2091T>C (p.Ala697=)
n.2426T>C
c.2088T>C (p.Ala696=)
c.2013T>C (p.Ala671=)
c.2010T>C (p.Ala670=)
c.1998T>C (p.Ala666=)
11g.22272845T>GCA473407512ANO5n.108T>G
c.1641T>G (p.Ala547=)
c.2049T>G (p.Ala683=)
n.3085T>G
c.2046T>G (p.Ala682=)
c.2091T>G (p.Ala697=)
n.2426T>G
c.2088T>G (p.Ala696=)
c.2013T>G (p.Ala671=)
c.2010T>G (p.Ala670=)
c.1998T>G (p.Ala666=)
dbSNP
11g.22272845T=CA1957402855ANO5n.108T=
c.1641T= (p.Ala547=)
c.2049T= (p.Ala683=)
n.3085T=
c.2046T= (p.Ala682=)
c.2091T= (p.Ala697=)
n.2426T=
c.2088T= (p.Ala696=)
c.2013T= (p.Ala671=)
c.2010T= (p.Ala670=)
c.1998T= (p.Ala666=)
11g.22272846C>ACA379923749ANO5n.109C>A
c.1642C>A (p.Leu548Ile)
c.2050C>A (p.Leu684Ile)
n.3086C>A
c.2047C>A (p.Leu683Ile)
c.2092C>A (p.Leu698Ile)
n.2427C>A
c.2089C>A (p.Leu697Ile)
c.2014C>A (p.Leu672Ile)
c.2011C>A (p.Leu671Ile)
c.1999C>A (p.Leu667Ile)
11g.22272846C>GCA379923751ANO5n.109C>G
c.1642C>G (p.Leu548Val)
c.2050C>G (p.Leu684Val)
n.3086C>G
c.2047C>G (p.Leu683Val)
c.2092C>G (p.Leu698Val)
n.2427C>G
c.2089C>G (p.Leu697Val)
c.2014C>G (p.Leu672Val)
c.2011C>G (p.Leu671Val)
c.1999C>G (p.Leu667Val)
11g.22272846C>TCA379923748ANO5n.109C>T
c.1642C>T (p.Leu548Phe)
c.2050C>T (p.Leu684Phe)
n.3086C>T
c.2047C>T (p.Leu683Phe)
c.2092C>T (p.Leu698Phe)
n.2427C>T
c.2089C>T (p.Leu697Phe)
c.2014C>T (p.Leu672Phe)
c.2011C>T (p.Leu671Phe)
c.1999C>T (p.Leu667Phe)
gnomAD v4
11g.22272847T>ACA379923752ANO5n.110T>A
c.1643T>A (p.Leu548His)
c.2051T>A (p.Leu684His)
n.3087T>A
c.2048T>A (p.Leu683His)
c.2093T>A (p.Leu698His)
n.2428T>A
c.2090T>A (p.Leu697His)
c.2015T>A (p.Leu672His)
c.2012T>A (p.Leu671His)
c.2000T>A (p.Leu667His)
11g.22272847T>CCA379923754ANO5n.110T>C
c.1643T>C (p.Leu548Pro)
c.2051T>C (p.Leu684Pro)
n.3087T>C
c.2048T>C (p.Leu683Pro)
c.2093T>C (p.Leu698Pro)
n.2428T>C
c.2090T>C (p.Leu697Pro)
c.2015T>C (p.Leu672Pro)
c.2012T>C (p.Leu671Pro)
c.2000T>C (p.Leu667Pro)
COSMIC
11g.22272847T>GCA379923756ANO5n.110T>G
c.1643T>G (p.Leu548Arg)
c.2051T>G (p.Leu684Arg)
n.3087T>G
c.2048T>G (p.Leu683Arg)
c.2093T>G (p.Leu698Arg)
n.2428T>G
c.2090T>G (p.Leu697Arg)
c.2015T>G (p.Leu672Arg)
c.2012T>G (p.Leu671Arg)
c.2000T>G (p.Leu667Arg)
11g.22272848C>ACA473407514ANO5n.111C>A
c.1644C>A (p.Leu548=)
c.2052C>A (p.Leu684=)
n.3088C>A
c.2049C>A (p.Leu683=)
c.2094C>A (p.Leu698=)
n.2429C>A
c.2091C>A (p.Leu697=)
c.2016C>A (p.Leu672=)
c.2013C>A (p.Leu671=)
c.2001C>A (p.Leu667=)
11g.22272848C=CA1957402860ANO5n.111C=
c.1644C= (p.Leu548=)
c.2052C= (p.Leu684=)
n.3088C=
c.2049C= (p.Leu683=)
c.2094C= (p.Leu698=)
n.2429C=
c.2091C= (p.Leu697=)
c.2016C= (p.Leu672=)
c.2013C= (p.Leu671=)
c.2001C= (p.Leu667=)
11g.22272848C>GCA473407515ANO5n.111C>G
c.1644C>G (p.Leu548=)
c.2052C>G (p.Leu684=)
n.3088C>G
c.2049C>G (p.Leu683=)
c.2094C>G (p.Leu698=)
n.2429C>G
c.2091C>G (p.Leu697=)
c.2016C>G (p.Leu672=)
c.2013C>G (p.Leu671=)
c.2001C>G (p.Leu667=)
11g.22272848C>TCA473407516ANO5n.111C>T
c.1644C>T (p.Leu548=)
c.2052C>T (p.Leu684=)
n.3088C>T
c.2049C>T (p.Leu683=)
c.2094C>T (p.Leu698=)
n.2429C>T
c.2091C>T (p.Leu697=)
c.2016C>T (p.Leu672=)
c.2013C>T (p.Leu671=)
c.2001C>T (p.Leu667=)
11g.22272849A>CCA379923757ANO5n.112A>C
c.1645A>C (p.Ile549Leu)
c.2053A>C (p.Ile685Leu)
n.3089A>C
c.2050A>C (p.Ile684Leu)
c.2095A>C (p.Ile699Leu)
n.2430A>C
c.2092A>C (p.Ile698Leu)
c.2017A>C (p.Ile673Leu)
c.2014A>C (p.Ile672Leu)
c.2002A>C (p.Ile668Leu)
11g.22272849A>GCA379923758ANO5n.112A>G
c.1645A>G (p.Ile549Val)
c.2053A>G (p.Ile685Val)
n.3089A>G
c.2050A>G (p.Ile684Val)
c.2095A>G (p.Ile699Val)
n.2430A>G
c.2092A>G (p.Ile698Val)
c.2017A>G (p.Ile673Val)
c.2014A>G (p.Ile672Val)
c.2002A>G (p.Ile668Val)
gnomAD v4
11g.22272849A>TCA379923760ANO5n.112A>T
c.1645A>T (p.Ile549Leu)
c.2053A>T (p.Ile685Leu)
n.3089A>T
c.2050A>T (p.Ile684Leu)
c.2095A>T (p.Ile699Leu)
n.2430A>T
c.2092A>T (p.Ile698Leu)
c.2017A>T (p.Ile673Leu)
c.2014A>T (p.Ile672Leu)
c.2002A>T (p.Ile668Leu)
11g.22272853_22272856dupCA674654781ANO5n.116_119dup
c.1649_1652dup (p.Asn551LysfsTer2)
c.2057_2060dup (p.Asn687LysfsTer2)
n.3093_3096dup
c.2054_2057dup (p.Asn686LysfsTer2)
c.2099_2102dup (p.Asn701LysfsTer2)
n.2434_2437dup
c.2096_2099dup (p.Asn700LysfsTer2)
c.2021_2024dup (p.Asn675LysfsTer2)
c.2018_2021dup (p.Asn674LysfsTer2)
c.2006_2009dup (p.Asn670LysfsTer2)
dbSNP gnomAD v3 gnomAD v4
11g.22272853_22272856delCA2790698856ANO5n.116_119del
c.1649_1652del (p.Asn550IlefsTer3)
c.2057_2060del (p.Asn686IlefsTer3)
n.3093_3096del
c.2054_2057del (p.Asn685IlefsTer3)
c.2099_2102del (p.Asn700IlefsTer3)
n.2434_2437del
c.2096_2099del (p.Asn699IlefsTer3)
c.2021_2024del (p.Asn674IlefsTer3)
c.2018_2021del (p.Asn673IlefsTer3)
c.2006_2009del (p.Asn669IlefsTer3)
11g.22272850T>ACA379923762ANO5n.113T>A
c.1646T>A (p.Ile549Lys)
c.2054T>A (p.Ile685Lys)
n.3090T>A
c.2051T>A (p.Ile684Lys)
c.2096T>A (p.Ile699Lys)
n.2431T>A
c.2093T>A (p.Ile698Lys)
c.2018T>A (p.Ile673Lys)
c.2015T>A (p.Ile672Lys)
c.2003T>A (p.Ile668Lys)
11g.22272850T>CCA5923455ANO5n.113T>C
c.1646T>C (p.Ile549Thr)
c.2054T>C (p.Ile685Thr)
n.3090T>C
c.2051T>C (p.Ile684Thr)
c.2096T>C (p.Ile699Thr)
n.2431T>C
c.2093T>C (p.Ile698Thr)
c.2018T>C (p.Ile673Thr)
c.2015T>C (p.Ile672Thr)
c.2003T>C (p.Ile668Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272850T>GCA379923764ANO5n.113T>G
c.1646T>G (p.Ile549Arg)
c.2054T>G (p.Ile685Arg)
n.3090T>G
c.2051T>G (p.Ile684Arg)
c.2096T>G (p.Ile699Arg)
n.2431T>G
c.2093T>G (p.Ile698Arg)
c.2018T>G (p.Ile673Arg)
c.2015T>G (p.Ile672Arg)
c.2003T>G (p.Ile668Arg)

Number of alleles fetched