Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22272829T>ACA379923694ANO5n.92T>A
c.1625T>A (p.Leu542Ter)
c.2033T>A (p.Leu678Ter)
n.3069T>A
c.2030T>A (p.Leu677Ter)
c.2075T>A (p.Leu692Ter)
n.2410T>A
c.2072T>A (p.Leu691Ter)
c.1997T>A (p.Leu666Ter)
c.1994T>A (p.Leu665Ter)
c.1982T>A (p.Leu661Ter)
11g.22272829T>CCA379923695ANO5n.92T>C
c.1625T>C (p.Leu542Ser)
c.2033T>C (p.Leu678Ser)
n.3069T>C
c.2030T>C (p.Leu677Ser)
c.2075T>C (p.Leu692Ser)
n.2410T>C
c.2072T>C (p.Leu691Ser)
c.1997T>C (p.Leu666Ser)
c.1994T>C (p.Leu665Ser)
c.1982T>C (p.Leu661Ser)
 ClinVar
11g.22272829T>GCA379923697ANO5n.92T>G
c.1625T>G (p.Leu542Trp)
c.2033T>G (p.Leu678Trp)
n.3069T>G
c.2030T>G (p.Leu677Trp)
c.2075T>G (p.Leu692Trp)
n.2410T>G
c.2072T>G (p.Leu691Trp)
c.1997T>G (p.Leu666Trp)
c.1994T>G (p.Leu665Trp)
c.1982T>G (p.Leu661Trp)
11g.22272830G>ACA473407499ANO5n.93G>A
c.1626G>A (p.Leu542=)
c.2034G>A (p.Leu678=)
n.3070G>A
c.2031G>A (p.Leu677=)
c.2076G>A (p.Leu692=)
n.2411G>A
c.2073G>A (p.Leu691=)
c.1998G>A (p.Leu666=)
c.1995G>A (p.Leu665=)
c.1983G>A (p.Leu661=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22272830G>CCA379923699ANO5n.93G>C
c.1626G>C (p.Leu542Phe)
c.2034G>C (p.Leu678Phe)
n.3070G>C
c.2031G>C (p.Leu677Phe)
c.2076G>C (p.Leu692Phe)
n.2411G>C
c.2073G>C (p.Leu691Phe)
c.1998G>C (p.Leu666Phe)
c.1995G>C (p.Leu665Phe)
c.1983G>C (p.Leu661Phe)
11g.22272830G=CA1957402775ANO5n.93G=
c.1626G= (p.Leu542=)
c.2034G= (p.Leu678=)
n.3070G=
c.2031G= (p.Leu677=)
c.2076G= (p.Leu692=)
n.2411G=
c.2073G= (p.Leu691=)
c.1998G= (p.Leu666=)
c.1995G= (p.Leu665=)
c.1983G= (p.Leu661=)
11g.22272830G>TCA379923700ANO5n.93G>T
c.1626G>T (p.Leu542Phe)
c.2034G>T (p.Leu678Phe)
n.3070G>T
c.2031G>T (p.Leu677Phe)
c.2076G>T (p.Leu692Phe)
n.2411G>T
c.2073G>T (p.Leu691Phe)
c.1998G>T (p.Leu666Phe)
c.1995G>T (p.Leu665Phe)
c.1983G>T (p.Leu661Phe)
11g.22272831G>ACA379923702ANO5n.94G>A
c.1627G>A (p.Ala543Thr)
c.2035G>A (p.Ala679Thr)
n.3071G>A
c.2032G>A (p.Ala678Thr)
c.2077G>A (p.Ala693Thr)
n.2412G>A
c.2074G>A (p.Ala692Thr)
c.1999G>A (p.Ala667Thr)
c.1996G>A (p.Ala666Thr)
c.1984G>A (p.Ala662Thr)
11g.22272831G>CCA379923706ANO5n.94G>C
c.1627G>C (p.Ala543Pro)
c.2035G>C (p.Ala679Pro)
n.3071G>C
c.2032G>C (p.Ala678Pro)
c.2077G>C (p.Ala693Pro)
n.2412G>C
c.2074G>C (p.Ala692Pro)
c.1999G>C (p.Ala667Pro)
c.1996G>C (p.Ala666Pro)
c.1984G>C (p.Ala662Pro)
 dbSNP gnomAD v2
11g.22272831G=CA1957402780ANO5n.94G=
c.1627G= (p.Ala543=)
c.2035G= (p.Ala679=)
n.3071G=
c.2032G= (p.Ala678=)
c.2077G= (p.Ala693=)
n.2412G=
c.2074G= (p.Ala692=)
c.1999G= (p.Ala667=)
c.1996G= (p.Ala666=)
c.1984G= (p.Ala662=)
11g.22272831G>TCA379923704ANO5n.94G>T
c.1627G>T (p.Ala543Ser)
c.2035G>T (p.Ala679Ser)
n.3071G>T
c.2032G>T (p.Ala678Ser)
c.2077G>T (p.Ala693Ser)
n.2412G>T
c.2074G>T (p.Ala692Ser)
c.1999G>T (p.Ala667Ser)
c.1996G>T (p.Ala666Ser)
c.1984G>T (p.Ala662Ser)
11g.22272832C>ACA379923707ANO5n.95C>A
c.1628C>A (p.Ala543Asp)
c.2036C>A (p.Ala679Asp)
n.3072C>A
c.2033C>A (p.Ala678Asp)
c.2078C>A (p.Ala693Asp)
n.2413C>A
c.2075C>A (p.Ala692Asp)
c.2000C>A (p.Ala667Asp)
c.1997C>A (p.Ala666Asp)
c.1985C>A (p.Ala662Asp)
11g.22272832C>GCA379923711ANO5n.95C>G
c.1628C>G (p.Ala543Gly)
c.2036C>G (p.Ala679Gly)
n.3072C>G
c.2033C>G (p.Ala678Gly)
c.2078C>G (p.Ala693Gly)
n.2413C>G
c.2075C>G (p.Ala692Gly)
c.2000C>G (p.Ala667Gly)
c.1997C>G (p.Ala666Gly)
c.1985C>G (p.Ala662Gly)
11g.22272832C>TCA379923709ANO5n.95C>T
c.1628C>T (p.Ala543Val)
c.2036C>T (p.Ala679Val)
n.3072C>T
c.2033C>T (p.Ala678Val)
c.2078C>T (p.Ala693Val)
n.2413C>T
c.2075C>T (p.Ala692Val)
c.2000C>T (p.Ala667Val)
c.1997C>T (p.Ala666Val)
c.1985C>T (p.Ala662Val)
11g.22272833T>ACA473407500ANO5n.96T>A
c.1629T>A (p.Ala543=)
c.2037T>A (p.Ala679=)
n.3073T>A
c.2034T>A (p.Ala678=)
c.2079T>A (p.Ala693=)
n.2414T>A
c.2076T>A (p.Ala692=)
c.2001T>A (p.Ala667=)
c.1998T>A (p.Ala666=)
c.1986T>A (p.Ala662=)
11g.22272833T>CCA473407501ANO5n.96T>C
c.1629T>C (p.Ala543=)
c.2037T>C (p.Ala679=)
n.3073T>C
c.2034T>C (p.Ala678=)
c.2079T>C (p.Ala693=)
n.2414T>C
c.2076T>C (p.Ala692=)
c.2001T>C (p.Ala667=)
c.1998T>C (p.Ala666=)
c.1986T>C (p.Ala662=)
 gnomAD v4
11g.22272833T>GCA473407502ANO5n.96T>G
c.1629T>G (p.Ala543=)
c.2037T>G (p.Ala679=)
n.3073T>G
c.2034T>G (p.Ala678=)
c.2079T>G (p.Ala693=)
n.2414T>G
c.2076T>G (p.Ala692=)
c.2001T>G (p.Ala667=)
c.1998T>G (p.Ala666=)
c.1986T>G (p.Ala662=)
11g.22272834C>ACA379923713ANO5n.97C>A
c.1630C>A (p.Pro544Thr)
c.2038C>A (p.Pro680Thr)
n.3074C>A
c.2035C>A (p.Pro679Thr)
c.2080C>A (p.Pro694Thr)
n.2415C>A
c.2077C>A (p.Pro693Thr)
c.2002C>A (p.Pro668Thr)
c.1999C>A (p.Pro667Thr)
c.1987C>A (p.Pro663Thr)
 COSMIC
11g.22272834C=CA1957402791ANO5n.97C=
c.1630C= (p.Pro544=)
c.2038C= (p.Pro680=)
n.3074C=
c.2035C= (p.Pro679=)
c.2080C= (p.Pro694=)
n.2415C=
c.2077C= (p.Pro693=)
c.2002C= (p.Pro668=)
c.1999C= (p.Pro667=)
c.1987C= (p.Pro663=)
11g.22272834C>GCA379923714ANO5n.97C>G
c.1630C>G (p.Pro544Ala)
c.2038C>G (p.Pro680Ala)
n.3074C>G
c.2035C>G (p.Pro679Ala)
c.2080C>G (p.Pro694Ala)
n.2415C>G
c.2077C>G (p.Pro693Ala)
c.2002C>G (p.Pro668Ala)
c.1999C>G (p.Pro667Ala)
c.1987C>G (p.Pro663Ala)
11g.22272834C>TCA10604433ANO5n.97C>T
c.1630C>T (p.Pro544Ser)
c.2038C>T (p.Pro680Ser)
n.3074C>T
c.2035C>T (p.Pro679Ser)
c.2080C>T (p.Pro694Ser)
n.2415C>T
c.2077C>T (p.Pro693Ser)
c.2002C>T (p.Pro668Ser)
c.1999C>T (p.Pro667Ser)
c.1987C>T (p.Pro663Ser)
 ClinVar dbSNP
11g.22272835C>ACA379923716ANO5n.98C>A
c.1631C>A (p.Pro544His)
c.2039C>A (p.Pro680His)
n.3075C>A
c.2036C>A (p.Pro679His)
c.2081C>A (p.Pro694His)
n.2416C>A
c.2078C>A (p.Pro693His)
c.2003C>A (p.Pro668His)
c.2000C>A (p.Pro667His)
c.1988C>A (p.Pro663His)
11g.22272835C>GCA379923718ANO5n.98C>G
c.1631C>G (p.Pro544Arg)
c.2039C>G (p.Pro680Arg)
n.3075C>G
c.2036C>G (p.Pro679Arg)
c.2081C>G (p.Pro694Arg)
n.2416C>G
c.2078C>G (p.Pro693Arg)
c.2003C>G (p.Pro668Arg)
c.2000C>G (p.Pro667Arg)
c.1988C>G (p.Pro663Arg)
11g.22272835C>TCA379923720ANO5n.98C>T
c.1631C>T (p.Pro544Leu)
c.2039C>T (p.Pro680Leu)
n.3075C>T
c.2036C>T (p.Pro679Leu)
c.2081C>T (p.Pro694Leu)
n.2416C>T
c.2078C>T (p.Pro693Leu)
c.2003C>T (p.Pro668Leu)
c.2000C>T (p.Pro667Leu)
c.1988C>T (p.Pro663Leu)
11g.22272836T>ACA473407503ANO5n.99T>A
c.1632T>A (p.Pro544=)
c.2040T>A (p.Pro680=)
n.3076T>A
c.2037T>A (p.Pro679=)
c.2082T>A (p.Pro694=)
n.2417T>A
c.2079T>A (p.Pro693=)
c.2004T>A (p.Pro668=)
c.2001T>A (p.Pro667=)
c.1989T>A (p.Pro663=)
11g.22272836T>CCA473407504ANO5n.99T>C
c.1632T>C (p.Pro544=)
c.2040T>C (p.Pro680=)
n.3076T>C
c.2037T>C (p.Pro679=)
c.2082T>C (p.Pro694=)
n.2417T>C
c.2079T>C (p.Pro693=)
c.2004T>C (p.Pro668=)
c.2001T>C (p.Pro667=)
c.1989T>C (p.Pro663=)
11g.22272836T>GCA473407505ANO5n.99T>G
c.1632T>G (p.Pro544=)
c.2040T>G (p.Pro680=)
n.3076T>G
c.2037T>G (p.Pro679=)
c.2082T>G (p.Pro694=)
n.2417T>G
c.2079T>G (p.Pro693=)
c.2004T>G (p.Pro668=)
c.2001T>G (p.Pro667=)
c.1989T>G (p.Pro663=)
 dbSNP gnomAD v4
11g.22272836T=CA1957402801ANO5n.99T=
c.1632T= (p.Pro544=)
c.2040T= (p.Pro680=)
n.3076T=
c.2037T= (p.Pro679=)
c.2082T= (p.Pro694=)
n.2417T=
c.2079T= (p.Pro693=)
c.2004T= (p.Pro668=)
c.2001T= (p.Pro667=)
c.1989T= (p.Pro663=)
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)
11g.22272850T=CA1957402875ANO5n.113T=
c.1646T= (p.Ile549=)
c.2054T= (p.Ile685=)
n.3090T=
c.2051T= (p.Ile684=)
c.2096T= (p.Ile699=)
n.2431T=
c.2093T= (p.Ile698=)
c.2018T= (p.Ile673=)
c.2015T= (p.Ile672=)
c.2003T= (p.Ile668=)
11g.22272851A>CCA473407518ANO5n.114A>C
c.1647A>C (p.Ile549=)
c.2055A>C (p.Ile685=)
n.3091A>C
c.2052A>C (p.Ile684=)
c.2097A>C (p.Ile699=)
n.2432A>C
c.2094A>C (p.Ile698=)
c.2019A>C (p.Ile673=)
c.2016A>C (p.Ile672=)
c.2004A>C (p.Ile668=)
11g.22272851A>GCA379923766ANO5n.114A>G
c.1647A>G (p.Ile549Met)
c.2055A>G (p.Ile685Met)
n.3091A>G
c.2052A>G (p.Ile684Met)
c.2097A>G (p.Ile699Met)
n.2432A>G
c.2094A>G (p.Ile698Met)
c.2019A>G (p.Ile673Met)
c.2016A>G (p.Ile672Met)
c.2004A>G (p.Ile668Met)
11g.22272851A>TCA473407517ANO5n.114A>T
c.1647A>T (p.Ile549=)
c.2055A>T (p.Ile685=)
n.3091A>T
c.2052A>T (p.Ile684=)
c.2097A>T (p.Ile699=)
n.2432A>T
c.2094A>T (p.Ile698=)
c.2019A>T (p.Ile673=)
c.2016A>T (p.Ile672=)
c.2004A>T (p.Ile668=)
11g.22272851_22272853delCA2612837250ANO5n.114_116del
c.1647_1649del (p.Asn550del)
c.2055_2057del (p.Asn686del)
n.3091_3093del
c.2052_2054del (p.Asn685del)
c.2097_2099del (p.Asn700del)
n.2432_2434del
c.2094_2096del (p.Asn699del)
c.2019_2021del (p.Asn674del)
c.2016_2018del (p.Asn673del)
c.2004_2006del (p.Asn669del)
 gnomAD v4
11g.22272852A>CCA379923767ANO5n.115A>C
c.1648A>C (p.Asn550His)
c.2056A>C (p.Asn686His)
n.3092A>C
c.2053A>C (p.Asn685His)
c.2098A>C (p.Asn700His)
n.2433A>C
c.2095A>C (p.Asn699His)
c.2020A>C (p.Asn674His)
c.2017A>C (p.Asn673His)
c.2005A>C (p.Asn669His)
11g.22272852A>GCA379923769ANO5n.115A>G
c.1648A>G (p.Asn550Asp)
c.2056A>G (p.Asn686Asp)
n.3092A>G
c.2053A>G (p.Asn685Asp)
c.2098A>G (p.Asn700Asp)
n.2433A>G
c.2095A>G (p.Asn699Asp)
c.2020A>G (p.Asn674Asp)
c.2017A>G (p.Asn673Asp)
c.2005A>G (p.Asn669Asp)
11g.22272852A>TCA379923770ANO5n.115A>T
c.1648A>T (p.Asn550Tyr)
c.2056A>T (p.Asn686Tyr)
n.3092A>T
c.2053A>T (p.Asn685Tyr)
c.2098A>T (p.Asn700Tyr)
n.2433A>T
c.2095A>T (p.Asn699Tyr)
c.2020A>T (p.Asn674Tyr)
c.2017A>T (p.Asn673Tyr)
c.2005A>T (p.Asn669Tyr)
11g.22272856_22272858delCA2695213374ANO5n.119_121del
c.1652_1654del (p.Asn551del)
c.2060_2062del (p.Asn687del)
n.3096_3098del
c.2057_2059del (p.Asn686del)
c.2102_2104del (p.Asn701del)
n.2437_2439del
c.2099_2101del (p.Asn700del)
c.2024_2026del (p.Asn675del)
c.2021_2023del (p.Asn674del)
c.2009_2011del (p.Asn670del)
11g.22272853A=CA1957402879ANO5n.116A=
c.1649A= (p.Asn550=)
c.2057A= (p.Asn686=)
n.3093A=
c.2054A= (p.Asn685=)
c.2099A= (p.Asn700=)
n.2434A=
c.2096A= (p.Asn699=)
c.2021A= (p.Asn674=)
c.2018A= (p.Asn673=)
c.2006A= (p.Asn669=)
11g.22272853A>CCA379923772ANO5n.116A>C
c.1649A>C (p.Asn550Thr)
c.2057A>C (p.Asn686Thr)
n.3093A>C
c.2054A>C (p.Asn685Thr)
c.2099A>C (p.Asn700Thr)
n.2434A>C
c.2096A>C (p.Asn699Thr)
c.2021A>C (p.Asn674Thr)
c.2018A>C (p.Asn673Thr)
c.2006A>C (p.Asn669Thr)
11g.22272853A>GCA218775809ANO5n.116A>G
c.1649A>G (p.Asn550Ser)
c.2057A>G (p.Asn686Ser)
n.3093A>G
c.2054A>G (p.Asn685Ser)
c.2099A>G (p.Asn700Ser)
n.2434A>G
c.2096A>G (p.Asn699Ser)
c.2021A>G (p.Asn674Ser)
c.2018A>G (p.Asn673Ser)
c.2006A>G (p.Asn669Ser)
 dbSNP COSMIC
11g.22272853A>TCA379923771ANO5n.116A>T
c.1649A>T (p.Asn550Ile)
c.2057A>T (p.Asn686Ile)
n.3093A>T
c.2054A>T (p.Asn685Ile)
c.2099A>T (p.Asn700Ile)
n.2434A>T
c.2096A>T (p.Asn699Ile)
c.2021A>T (p.Asn674Ile)
c.2018A>T (p.Asn673Ile)
c.2006A>T (p.Asn669Ile)
11g.22272854T>ACA379923773ANO5n.117T>A
c.1650T>A (p.Asn550Lys)
c.2058T>A (p.Asn686Lys)
n.3094T>A
c.2055T>A (p.Asn685Lys)
c.2100T>A (p.Asn700Lys)
n.2435T>A
c.2097T>A (p.Asn699Lys)
c.2022T>A (p.Asn674Lys)
c.2019T>A (p.Asn673Lys)
c.2007T>A (p.Asn669Lys)
11g.22272854T>CCA473407519ANO5n.117T>C
c.1650T>C (p.Asn550=)
c.2058T>C (p.Asn686=)
n.3094T>C
c.2055T>C (p.Asn685=)
c.2100T>C (p.Asn700=)
n.2435T>C
c.2097T>C (p.Asn699=)
c.2022T>C (p.Asn674=)
c.2019T>C (p.Asn673=)
c.2007T>C (p.Asn669=)
 gnomAD v4
11g.22272854T>GCA379923774ANO5n.117T>G
c.1650T>G (p.Asn550Lys)
c.2058T>G (p.Asn686Lys)
n.3094T>G
c.2055T>G (p.Asn685Lys)
c.2100T>G (p.Asn700Lys)
n.2435T>G
c.2097T>G (p.Asn699Lys)
c.2022T>G (p.Asn674Lys)
c.2019T>G (p.Asn673Lys)
c.2007T>G (p.Asn669Lys)
11g.22272855A=CA1957402884ANO5n.118A=
c.1651A= (p.Asn551=)
c.2059A= (p.Asn687=)
n.3095A=
c.2056A= (p.Asn686=)
c.2101A= (p.Asn701=)
n.2436A=
c.2098A= (p.Asn700=)
c.2023A= (p.Asn675=)
c.2020A= (p.Asn674=)
c.2008A= (p.Asn670=)
11g.22272855A>CCA379923775ANO5n.118A>C
c.1651A>C (p.Asn551His)
c.2059A>C (p.Asn687His)
n.3095A>C
c.2056A>C (p.Asn686His)
c.2101A>C (p.Asn701His)
n.2436A>C
c.2098A>C (p.Asn700His)
c.2023A>C (p.Asn675His)
c.2020A>C (p.Asn674His)
c.2008A>C (p.Asn670His)
 dbSNP gnomAD v3 gnomAD v4
11g.22272855A>GCA218775814ANO5n.118A>G
c.1651A>G (p.Asn551Asp)
c.2059A>G (p.Asn687Asp)
n.3095A>G
c.2056A>G (p.Asn686Asp)
c.2101A>G (p.Asn701Asp)
n.2436A>G
c.2098A>G (p.Asn700Asp)
c.2023A>G (p.Asn675Asp)
c.2020A>G (p.Asn674Asp)
c.2008A>G (p.Asn670Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22272855A>TCA379923776ANO5n.118A>T
c.1651A>T (p.Asn551Tyr)
c.2059A>T (p.Asn687Tyr)
n.3095A>T
c.2056A>T (p.Asn686Tyr)
c.2101A>T (p.Asn701Tyr)
n.2436A>T
c.2098A>T (p.Asn700Tyr)
c.2023A>T (p.Asn675Tyr)
c.2020A>T (p.Asn674Tyr)
c.2008A>T (p.Asn670Tyr)
11g.22272856A=CA1957402886ANO5n.119A=
c.1652A= (p.Asn551=)
c.2060A= (p.Asn687=)
n.3096A=
c.2057A= (p.Asn686=)
c.2102A= (p.Asn701=)
n.2437A=
c.2099A= (p.Asn700=)
c.2024A= (p.Asn675=)
c.2021A= (p.Asn674=)
c.2009A= (p.Asn670=)
11g.22272856A>CCA379923777ANO5n.119A>C
c.1652A>C (p.Asn551Thr)
c.2060A>C (p.Asn687Thr)
n.3096A>C
c.2057A>C (p.Asn686Thr)
c.2102A>C (p.Asn701Thr)
n.2437A>C
c.2099A>C (p.Asn700Thr)
c.2024A>C (p.Asn675Thr)
c.2021A>C (p.Asn674Thr)
c.2009A>C (p.Asn670Thr)
11g.22272856A>GCA5923456ANO5n.119A>G
c.1652A>G (p.Asn551Ser)
c.2060A>G (p.Asn687Ser)
n.3096A>G
c.2057A>G (p.Asn686Ser)
c.2102A>G (p.Asn701Ser)
n.2437A>G
c.2099A>G (p.Asn700Ser)
c.2024A>G (p.Asn675Ser)
c.2021A>G (p.Asn674Ser)
c.2009A>G (p.Asn670Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272856A>TCA379923778ANO5n.119A>T
c.1652A>T (p.Asn551Ile)
c.2060A>T (p.Asn687Ile)
n.3096A>T
c.2057A>T (p.Asn686Ile)
c.2102A>T (p.Asn701Ile)
n.2437A>T
c.2099A>T (p.Asn700Ile)
c.2024A>T (p.Asn675Ile)
c.2021A>T (p.Asn674Ile)
c.2009A>T (p.Asn670Ile)
11g.22272857T>ACA379923779ANO5n.120T>A
c.1653T>A (p.Asn551Lys)
c.2061T>A (p.Asn687Lys)
n.3097T>A
c.2058T>A (p.Asn686Lys)
c.2103T>A (p.Asn701Lys)
n.2438T>A
c.2100T>A (p.Asn700Lys)
c.2025T>A (p.Asn675Lys)
c.2022T>A (p.Asn674Lys)
c.2010T>A (p.Asn670Lys)
11g.22272857T>CCA473407520ANO5n.120T>C
c.1653T>C (p.Asn551=)
c.2061T>C (p.Asn687=)
n.3097T>C
c.2058T>C (p.Asn686=)
c.2103T>C (p.Asn701=)
n.2438T>C
c.2100T>C (p.Asn700=)
c.2025T>C (p.Asn675=)
c.2022T>C (p.Asn674=)
c.2010T>C (p.Asn670=)
11g.22272857T>GCA379923780ANO5n.120T>G
c.1653T>G (p.Asn551Lys)
c.2061T>G (p.Asn687Lys)
n.3097T>G
c.2058T>G (p.Asn686Lys)
c.2103T>G (p.Asn701Lys)
n.2438T>G
c.2100T>G (p.Asn700Lys)
c.2025T>G (p.Asn675Lys)
c.2022T>G (p.Asn674Lys)
c.2010T>G (p.Asn670Lys)
11g.22272858A>CCA379923781ANO5n.121A>C
c.1654A>C (p.Ile552Leu)
c.2062A>C (p.Ile688Leu)
n.3098A>C
c.2059A>C (p.Ile687Leu)
c.2104A>C (p.Ile702Leu)
n.2439A>C
c.2101A>C (p.Ile701Leu)
c.2026A>C (p.Ile676Leu)
c.2023A>C (p.Ile675Leu)
c.2011A>C (p.Ile671Leu)
11g.22272858A>GCA379923782ANO5n.121A>G
c.1654A>G (p.Ile552Val)
c.2062A>G (p.Ile688Val)
n.3098A>G
c.2059A>G (p.Ile687Val)
c.2104A>G (p.Ile702Val)
n.2439A>G
c.2101A>G (p.Ile701Val)
c.2026A>G (p.Ile676Val)
c.2023A>G (p.Ile675Val)
c.2011A>G (p.Ile671Val)
11g.22272858A>TCA379923783ANO5n.121A>T
c.1654A>T (p.Ile552Phe)
c.2062A>T (p.Ile688Phe)
n.3098A>T
c.2059A>T (p.Ile687Phe)
c.2104A>T (p.Ile702Phe)
n.2439A>T
c.2101A>T (p.Ile701Phe)
c.2026A>T (p.Ile676Phe)
c.2023A>T (p.Ile675Phe)
c.2011A>T (p.Ile671Phe)
11g.22272859T>ACA379923785ANO5n.122T>A
c.1655T>A (p.Ile552Asn)
c.2063T>A (p.Ile688Asn)
n.3099T>A
c.2060T>A (p.Ile687Asn)
c.2105T>A (p.Ile702Asn)
n.2440T>A
c.2102T>A (p.Ile701Asn)
c.2027T>A (p.Ile676Asn)
c.2024T>A (p.Ile675Asn)
c.2012T>A (p.Ile671Asn)
11g.22272859T>CCA5923457ANO5n.122T>C
c.1655T>C (p.Ile552Thr)
c.2063T>C (p.Ile688Thr)
n.3099T>C
c.2060T>C (p.Ile687Thr)
c.2105T>C (p.Ile702Thr)
n.2440T>C
c.2102T>C (p.Ile701Thr)
c.2027T>C (p.Ile676Thr)
c.2024T>C (p.Ile675Thr)
c.2012T>C (p.Ile671Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272859T>GCA379923784ANO5n.122T>G
c.1655T>G (p.Ile552Ser)
c.2063T>G (p.Ile688Ser)
n.3099T>G
c.2060T>G (p.Ile687Ser)
c.2105T>G (p.Ile702Ser)
n.2440T>G
c.2102T>G (p.Ile701Ser)
c.2027T>G (p.Ile676Ser)
c.2024T>G (p.Ile675Ser)
c.2012T>G (p.Ile671Ser)
11g.22272859T=CA1957402890ANO5n.122T=
c.1655T= (p.Ile552=)
c.2063T= (p.Ile688=)
n.3099T=
c.2060T= (p.Ile687=)
c.2105T= (p.Ile702=)
n.2440T=
c.2102T= (p.Ile701=)
c.2027T= (p.Ile676=)
c.2024T= (p.Ile675=)
c.2012T= (p.Ile671=)
11g.22272860delCA2612837258ANO5n.123del
c.1656del (p.Ile552MetfsTer2)
c.2064del (p.Ile688MetfsTer2)
n.3100del
c.2061del (p.Ile687MetfsTer2)
c.2106del (p.Ile702MetfsTer2)
n.2441del
c.2103del (p.Ile701MetfsTer2)
c.2028del (p.Ile676MetfsTer2)
c.2025del (p.Ile675MetfsTer2)
c.2013del (p.Ile671MetfsTer2)
 gnomAD v4
11g.22272860T>ACA473407521ANO5n.123T>A
c.1656T>A (p.Ile552=)
c.2064T>A (p.Ile688=)
n.3100T>A
c.2061T>A (p.Ile687=)
c.2106T>A (p.Ile702=)
n.2441T>A
c.2103T>A (p.Ile701=)
c.2028T>A (p.Ile676=)
c.2025T>A (p.Ile675=)
c.2013T>A (p.Ile671=)
11g.22272860T>CCA473407522ANO5n.123T>C
c.1656T>C (p.Ile552=)
c.2064T>C (p.Ile688=)
n.3100T>C
c.2061T>C (p.Ile687=)
c.2106T>C (p.Ile702=)
n.2441T>C
c.2103T>C (p.Ile701=)
c.2028T>C (p.Ile676=)
c.2025T>C (p.Ile675=)
c.2013T>C (p.Ile671=)
11g.22272860T>GCA379923786ANO5n.123T>G
c.1656T>G (p.Ile552Met)
c.2064T>G (p.Ile688Met)
n.3100T>G
c.2061T>G (p.Ile687Met)
c.2106T>G (p.Ile702Met)
n.2441T>G
c.2103T>G (p.Ile701Met)
c.2028T>G (p.Ile676Met)
c.2025T>G (p.Ile675Met)
c.2013T>G (p.Ile671Met)
11g.22272861G>ACA379923789ANO5n.124G>A
c.1657G>A (p.Val553Ile)
c.2065G>A (p.Val689Ile)
n.3101G>A
c.2062G>A (p.Val688Ile)
c.2107G>A (p.Val703Ile)
n.2442G>A
c.2104G>A (p.Val702Ile)
c.2029G>A (p.Val677Ile)
c.2026G>A (p.Val676Ile)
c.2014G>A (p.Val672Ile)
 gnomAD v4
11g.22272861G>CCA379923787ANO5n.124G>C
c.1657G>C (p.Val553Leu)
c.2065G>C (p.Val689Leu)
n.3101G>C
c.2062G>C (p.Val688Leu)
c.2107G>C (p.Val703Leu)
n.2442G>C
c.2104G>C (p.Val702Leu)
c.2029G>C (p.Val677Leu)
c.2026G>C (p.Val676Leu)
c.2014G>C (p.Val672Leu)
11g.22272861G>TCA379923788ANO5n.124G>T
c.1657G>T (p.Val553Leu)
c.2065G>T (p.Val689Leu)
n.3101G>T
c.2062G>T (p.Val688Leu)
c.2107G>T (p.Val703Leu)
n.2442G>T
c.2104G>T (p.Val702Leu)
c.2029G>T (p.Val677Leu)
c.2026G>T (p.Val676Leu)
c.2014G>T (p.Val672Leu)
11g.22272862T>ACA379923790ANO5n.125T>A
c.1658T>A (p.Val553Glu)
c.2066T>A (p.Val689Glu)
n.3102T>A
c.2063T>A (p.Val688Glu)
c.2108T>A (p.Val703Glu)
n.2443T>A
c.2105T>A (p.Val702Glu)
c.2030T>A (p.Val677Glu)
c.2027T>A (p.Val676Glu)
c.2015T>A (p.Val672Glu)
11g.22272862T>CCA379923791ANO5n.125T>C
c.1658T>C (p.Val553Ala)
c.2066T>C (p.Val689Ala)
n.3102T>C
c.2063T>C (p.Val688Ala)
c.2108T>C (p.Val703Ala)
n.2443T>C
c.2105T>C (p.Val702Ala)
c.2030T>C (p.Val677Ala)
c.2027T>C (p.Val676Ala)
c.2015T>C (p.Val672Ala)
 gnomAD v4
11g.22272862T>GCA379923792ANO5n.125T>G
c.1658T>G (p.Val553Gly)
c.2066T>G (p.Val689Gly)
n.3102T>G
c.2063T>G (p.Val688Gly)
c.2108T>G (p.Val703Gly)
n.2443T>G
c.2105T>G (p.Val702Gly)
c.2030T>G (p.Val677Gly)
c.2027T>G (p.Val676Gly)
c.2015T>G (p.Val672Gly)
11g.22272863A>CCA473407523ANO5n.126A>C
c.1659A>C (p.Val553=)
c.2067A>C (p.Val689=)
n.3103A>C
c.2064A>C (p.Val688=)
c.2109A>C (p.Val703=)
n.2444A>C
c.2106A>C (p.Val702=)
c.2031A>C (p.Val677=)
c.2028A>C (p.Val676=)
c.2016A>C (p.Val672=)
11g.22272863A>GCA473407524ANO5n.126A>G
c.1659A>G (p.Val553=)
c.2067A>G (p.Val689=)
n.3103A>G
c.2064A>G (p.Val688=)
c.2109A>G (p.Val703=)
n.2444A>G
c.2106A>G (p.Val702=)
c.2031A>G (p.Val677=)
c.2028A>G (p.Val676=)
c.2016A>G (p.Val672=)
11g.22272863A>TCA473407525ANO5n.126A>T
c.1659A>T (p.Val553=)
c.2067A>T (p.Val689=)
n.3103A>T
c.2064A>T (p.Val688=)
c.2109A>T (p.Val703=)
n.2444A>T
c.2106A>T (p.Val702=)
c.2031A>T (p.Val677=)
c.2028A>T (p.Val676=)
c.2016A>T (p.Val672=)
11g.22272866_22272867delCA2534312050ANO5n.129_130del
c.1662_1663del (p.Glu554AspfsTer19)
c.2070_2071del (p.Glu690AspfsTer19)
n.3106_3107del
c.2067_2068del (p.Glu689AspfsTer19)
c.2112_2113del (p.Glu704AspfsTer19)
n.2447_2448del
c.2109_2110del (p.Glu703AspfsTer19)
c.2034_2035del (p.Glu678AspfsTer19)
c.2031_2032del (p.Glu677AspfsTer19)
c.2019_2020del (p.Glu673AspfsTer19)
11g.22272864G>ACA379923793ANO5n.127G>A
c.1660G>A (p.Glu554Lys)
c.2068G>A (p.Glu690Lys)
n.3104G>A
c.2065G>A (p.Glu689Lys)
c.2110G>A (p.Glu704Lys)
n.2445G>A
c.2107G>A (p.Glu703Lys)
c.2032G>A (p.Glu678Lys)
c.2029G>A (p.Glu677Lys)
c.2017G>A (p.Glu673Lys)
11g.22272864G>CCA379923794ANO5n.127G>C
c.1660G>C (p.Glu554Gln)
c.2068G>C (p.Glu690Gln)
n.3104G>C
c.2065G>C (p.Glu689Gln)
c.2110G>C (p.Glu704Gln)
n.2445G>C
c.2107G>C (p.Glu703Gln)
c.2032G>C (p.Glu678Gln)
c.2029G>C (p.Glu677Gln)
c.2017G>C (p.Glu673Gln)
11g.22272864G>TCA379923795ANO5n.127G>T
c.1660G>T (p.Glu554Ter)
c.2068G>T (p.Glu690Ter)
n.3104G>T
c.2065G>T (p.Glu689Ter)
c.2110G>T (p.Glu704Ter)
n.2445G>T
c.2107G>T (p.Glu703Ter)
c.2032G>T (p.Glu678Ter)
c.2029G>T (p.Glu677Ter)
c.2017G>T (p.Glu673Ter)
11g.22272865A>CCA379923796ANO5n.128A>C
c.1661A>C (p.Glu554Ala)
c.2069A>C (p.Glu690Ala)
n.3105A>C
c.2066A>C (p.Glu689Ala)
c.2111A>C (p.Glu704Ala)
n.2446A>C
c.2108A>C (p.Glu703Ala)
c.2033A>C (p.Glu678Ala)
c.2030A>C (p.Glu677Ala)
c.2018A>C (p.Glu673Ala)
11g.22272865A>GCA379923797ANO5n.128A>G
c.1661A>G (p.Glu554Gly)
c.2069A>G (p.Glu690Gly)
n.3105A>G
c.2066A>G (p.Glu689Gly)
c.2111A>G (p.Glu704Gly)
n.2446A>G
c.2108A>G (p.Glu703Gly)
c.2033A>G (p.Glu678Gly)
c.2030A>G (p.Glu677Gly)
c.2018A>G (p.Glu673Gly)
11g.22272865A>TCA379923798ANO5n.128A>T
c.1661A>T (p.Glu554Val)
c.2069A>T (p.Glu690Val)
n.3105A>T
c.2066A>T (p.Glu689Val)
c.2111A>T (p.Glu704Val)
n.2446A>T
c.2108A>T (p.Glu703Val)
c.2033A>T (p.Glu678Val)
c.2030A>T (p.Glu677Val)
c.2018A>T (p.Glu673Val)
11g.22272866G>ACA473407526ANO5n.129G>A
c.1662G>A (p.Glu554=)
c.2070G>A (p.Glu690=)
n.3106G>A
c.2067G>A (p.Glu689=)
c.2112G>A (p.Glu704=)
n.2447G>A
c.2109G>A (p.Glu703=)
c.2034G>A (p.Glu678=)
c.2031G>A (p.Glu677=)
c.2019G>A (p.Glu673=)
 gnomAD v4
11g.22272866G>CCA379923799ANO5n.129G>C
c.1662G>C (p.Glu554Asp)
c.2070G>C (p.Glu690Asp)
n.3106G>C
c.2067G>C (p.Glu689Asp)
c.2112G>C (p.Glu704Asp)
n.2447G>C
c.2109G>C (p.Glu703Asp)
c.2034G>C (p.Glu678Asp)
c.2031G>C (p.Glu677Asp)
c.2019G>C (p.Glu673Asp)
 gnomAD v4
11g.22272866G>TCA379923800ANO5n.129G>T
c.1662G>T (p.Glu554Asp)
c.2070G>T (p.Glu690Asp)
n.3106G>T
c.2067G>T (p.Glu689Asp)
c.2112G>T (p.Glu704Asp)
n.2447G>T
c.2109G>T (p.Glu703Asp)
c.2034G>T (p.Glu678Asp)
c.2031G>T (p.Glu677Asp)
c.2019G>T (p.Glu673Asp)
 COSMIC
11g.22272867A>CCA379923803ANO5n.130A>C
c.1663A>C (p.Ile555Leu)
c.2071A>C (p.Ile691Leu)
n.3107A>C
c.2068A>C (p.Ile690Leu)
c.2113A>C (p.Ile705Leu)
n.2448A>C
c.2110A>C (p.Ile704Leu)
c.2035A>C (p.Ile679Leu)
c.2032A>C (p.Ile678Leu)
c.2020A>C (p.Ile674Leu)
11g.22272867A>GCA379923802ANO5n.130A>G
c.1663A>G (p.Ile555Val)
c.2071A>G (p.Ile691Val)
n.3107A>G
c.2068A>G (p.Ile690Val)
c.2113A>G (p.Ile705Val)
n.2448A>G
c.2110A>G (p.Ile704Val)
c.2035A>G (p.Ile679Val)
c.2032A>G (p.Ile678Val)
c.2020A>G (p.Ile674Val)
11g.22272867A>TCA379923801ANO5n.130A>T
c.1663A>T (p.Ile555Phe)
c.2071A>T (p.Ile691Phe)
n.3107A>T
c.2068A>T (p.Ile690Phe)
c.2113A>T (p.Ile705Phe)
n.2448A>T
c.2110A>T (p.Ile704Phe)
c.2035A>T (p.Ile679Phe)
c.2032A>T (p.Ile678Phe)
c.2020A>T (p.Ile674Phe)
11g.22272868T>ACA379923804ANO5n.131T>A
c.1664T>A (p.Ile555Asn)
c.2072T>A (p.Ile691Asn)
n.3108T>A
c.2069T>A (p.Ile690Asn)
c.2114T>A (p.Ile705Asn)
n.2449T>A
c.2111T>A (p.Ile704Asn)
c.2036T>A (p.Ile679Asn)
c.2033T>A (p.Ile678Asn)
c.2021T>A (p.Ile674Asn)
11g.22272868T>CCA379923805ANO5n.131T>C
c.1664T>C (p.Ile555Thr)
c.2072T>C (p.Ile691Thr)
n.3108T>C
c.2069T>C (p.Ile690Thr)
c.2114T>C (p.Ile705Thr)
n.2449T>C
c.2111T>C (p.Ile704Thr)
c.2036T>C (p.Ile679Thr)
c.2033T>C (p.Ile678Thr)
c.2021T>C (p.Ile674Thr)
 gnomAD v4
11g.22272868T>GCA379923806ANO5n.131T>G
c.1664T>G (p.Ile555Ser)
c.2072T>G (p.Ile691Ser)
n.3108T>G
c.2069T>G (p.Ile690Ser)
c.2114T>G (p.Ile705Ser)
n.2449T>G
c.2111T>G (p.Ile704Ser)
c.2036T>G (p.Ile679Ser)
c.2033T>G (p.Ile678Ser)
c.2021T>G (p.Ile674Ser)
11g.22272868_22272869insCCA2540725596ANO5n.131_132insC
c.1664_1665insC (p.Arg556SerfsTer18)
c.2072_2073insC (p.Arg692SerfsTer18)
n.3108_3109insC
c.2069_2070insC (p.Arg691SerfsTer18)
c.2114_2115insC (p.Arg706SerfsTer18)
n.2449_2450insC
c.2111_2112insC (p.Arg705SerfsTer18)
c.2036_2037insC (p.Arg680SerfsTer18)
c.2033_2034insC (p.Arg679SerfsTer18)
c.2021_2022insC (p.Arg675SerfsTer18)
11g.22272869T>ACA473407528ANO5n.132T>A
c.1665T>A (p.Ile555=)
c.2073T>A (p.Ile691=)
n.3109T>A
c.2070T>A (p.Ile690=)
c.2115T>A (p.Ile705=)
n.2450T>A
c.2112T>A (p.Ile704=)
c.2037T>A (p.Ile679=)
c.2034T>A (p.Ile678=)
c.2022T>A (p.Ile674=)
11g.22272869T>CCA473407529ANO5n.132T>C
c.1665T>C (p.Ile555=)
c.2073T>C (p.Ile691=)
n.3109T>C
c.2070T>C (p.Ile690=)
c.2115T>C (p.Ile705=)
n.2450T>C
c.2112T>C (p.Ile704=)
c.2037T>C (p.Ile679=)
c.2034T>C (p.Ile678=)
c.2022T>C (p.Ile674=)
 gnomAD v4
11g.22272869T>GCA379923807ANO5n.132T>G
c.1665T>G (p.Ile555Met)
c.2073T>G (p.Ile691Met)
n.3109T>G
c.2070T>G (p.Ile690Met)
c.2115T>G (p.Ile705Met)
n.2450T>G
c.2112T>G (p.Ile704Met)
c.2037T>G (p.Ile679Met)
c.2034T>G (p.Ile678Met)
c.2022T>G (p.Ile674Met)
11g.22272870delCA2790698858ANO5n.133del
c.1666del (p.Arg556GlufsTer15)
c.2074del (p.Arg692GlufsTer15)
n.3110del
c.2071del (p.Arg691GlufsTer15)
c.2116del (p.Arg706GlufsTer15)
n.2451del
c.2113del (p.Arg705GlufsTer15)
c.2038del (p.Arg680GlufsTer15)
c.2035del (p.Arg679GlufsTer15)
c.2023del (p.Arg675GlufsTer15)
11g.22272870C>ACA5923459ANO5n.133C>A
c.1666C>A (p.Arg556=)
c.2074C>A (p.Arg692=)
n.3110C>A
c.2071C>A (p.Arg691=)
c.2116C>A (p.Arg706=)
n.2451C>A
c.2113C>A (p.Arg705=)
c.2038C>A (p.Arg680=)
c.2035C>A (p.Arg679=)
c.2023C>A (p.Arg675=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272870C=CA1957402893ANO5n.133C=
c.1666C= (p.Arg556=)
c.2074C= (p.Arg692=)
n.3110C=
c.2071C= (p.Arg691=)
c.2116C= (p.Arg706=)
n.2451C=
c.2113C= (p.Arg705=)
c.2038C= (p.Arg680=)
c.2035C= (p.Arg679=)
c.2023C= (p.Arg675=)
11g.22272870C>GCA379923808ANO5n.133C>G
c.1666C>G (p.Arg556Gly)
c.2074C>G (p.Arg692Gly)
n.3110C>G
c.2071C>G (p.Arg691Gly)
c.2116C>G (p.Arg706Gly)
n.2451C>G
c.2113C>G (p.Arg705Gly)
c.2038C>G (p.Arg680Gly)
c.2035C>G (p.Arg679Gly)
c.2023C>G (p.Arg675Gly)
11g.22272870C>TCA5923458ANO5n.133C>T
c.1666C>T (p.Arg556Ter)
c.2074C>T (p.Arg692Ter)
n.3110C>T
c.2071C>T (p.Arg691Ter)
c.2116C>T (p.Arg706Ter)
n.2451C>T
c.2113C>T (p.Arg705Ter)
c.2038C>T (p.Arg680Ter)
c.2035C>T (p.Arg679Ter)
c.2023C>T (p.Arg675Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.22272871G>ACA218775842ANO5n.134G>A
c.1667G>A (p.Arg556Gln)
c.2075G>A (p.Arg692Gln)
n.3111G>A
c.2072G>A (p.Arg691Gln)
c.2117G>A (p.Arg706Gln)
n.2452G>A
c.2114G>A (p.Arg705Gln)
c.2039G>A (p.Arg680Gln)
c.2036G>A (p.Arg679Gln)
c.2024G>A (p.Arg675Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.22272871G>CCA379923809ANO5n.134G>C
c.1667G>C (p.Arg556Pro)
c.2075G>C (p.Arg692Pro)
n.3111G>C
c.2072G>C (p.Arg691Pro)
c.2117G>C (p.Arg706Pro)
n.2452G>C
c.2114G>C (p.Arg705Pro)
c.2039G>C (p.Arg680Pro)
c.2036G>C (p.Arg679Pro)
c.2024G>C (p.Arg675Pro)
 gnomAD v4
11g.22272871G=CA1957402897ANO5n.134G=
c.1667G= (p.Arg556=)
c.2075G= (p.Arg692=)
n.3111G=
c.2072G= (p.Arg691=)
c.2117G= (p.Arg706=)
n.2452G=
c.2114G= (p.Arg705=)
c.2039G= (p.Arg680=)
c.2036G= (p.Arg679=)
c.2024G= (p.Arg675=)
11g.22272871G>TCA379923810ANO5n.134G>T
c.1667G>T (p.Arg556Leu)
c.2075G>T (p.Arg692Leu)
n.3111G>T
c.2072G>T (p.Arg691Leu)
c.2117G>T (p.Arg706Leu)
n.2452G>T
c.2114G>T (p.Arg705Leu)
c.2039G>T (p.Arg680Leu)
c.2036G>T (p.Arg679Leu)
c.2024G>T (p.Arg675Leu)
 ClinVar dbSNP gnomAD v4
11g.22272872delCA2515772341ANO5n.135del
c.1668del (p.Val557TrpfsTer14)
c.2076del (p.Val693TrpfsTer14)
n.3112del
c.2073del (p.Val692TrpfsTer14)
c.2118del (p.Val707TrpfsTer14)
n.2453del
c.2115del (p.Val706TrpfsTer14)
c.2040del (p.Val681TrpfsTer14)
c.2037del (p.Val680TrpfsTer14)
c.2025del (p.Val676TrpfsTer14)
11g.22272872A>CCA473407530ANO5n.135A>C
c.1668A>C (p.Arg556=)
c.2076A>C (p.Arg692=)
n.3112A>C
c.2073A>C (p.Arg691=)
c.2118A>C (p.Arg706=)
n.2453A>C
c.2115A>C (p.Arg705=)
c.2040A>C (p.Arg680=)
c.2037A>C (p.Arg679=)
c.2025A>C (p.Arg675=)
11g.22272872A>GCA473407531ANO5n.135A>G
c.1668A>G (p.Arg556=)
c.2076A>G (p.Arg692=)
n.3112A>G
c.2073A>G (p.Arg691=)
c.2118A>G (p.Arg706=)
n.2453A>G
c.2115A>G (p.Arg705=)
c.2040A>G (p.Arg680=)
c.2037A>G (p.Arg679=)
c.2025A>G (p.Arg675=)
 gnomAD v4
11g.22272872A>TCA473407532ANO5n.135A>T
c.1668A>T (p.Arg556=)
c.2076A>T (p.Arg692=)
n.3112A>T
c.2073A>T (p.Arg691=)
c.2118A>T (p.Arg706=)
n.2453A>T
c.2115A>T (p.Arg705=)
c.2040A>T (p.Arg680=)
c.2037A>T (p.Arg679=)
c.2025A>T (p.Arg675=)
11g.22272873G>ACA379923811ANO5n.136G>A
c.1669G>A (p.Val557Met)
c.2077G>A (p.Val693Met)
n.3113G>A
c.2074G>A (p.Val692Met)
c.2119G>A (p.Val707Met)
n.2454G>A
c.2116G>A (p.Val706Met)
c.2041G>A (p.Val681Met)
c.2038G>A (p.Val680Met)
c.2026G>A (p.Val676Met)
11g.22272873G>CCA379923812ANO5n.136G>C
c.1669G>C (p.Val557Leu)
c.2077G>C (p.Val693Leu)
n.3113G>C
c.2074G>C (p.Val692Leu)
c.2119G>C (p.Val707Leu)
n.2454G>C
c.2116G>C (p.Val706Leu)
c.2041G>C (p.Val681Leu)
c.2038G>C (p.Val680Leu)
c.2026G>C (p.Val676Leu)
11g.22272873G=CA1957402906ANO5n.136G=
c.1669G= (p.Val557=)
c.2077G= (p.Val693=)
n.3113G=
c.2074G= (p.Val692=)
c.2119G= (p.Val707=)
n.2454G=
c.2116G= (p.Val706=)
c.2041G= (p.Val681=)
c.2038G= (p.Val680=)
c.2026G= (p.Val676=)
11g.22272873G>TCA379923813ANO5n.136G>T
c.1669G>T (p.Val557Leu)
c.2077G>T (p.Val693Leu)
n.3113G>T
c.2074G>T (p.Val692Leu)
c.2119G>T (p.Val707Leu)
n.2454G>T
c.2116G>T (p.Val706Leu)
c.2041G>T (p.Val681Leu)
c.2038G>T (p.Val680Leu)
c.2026G>T (p.Val676Leu)
 dbSNP
11g.22272873_22272874insGTCA2612837275ANO5n.136_137insGT
c.1669_1670insGT (p.Val557GlyfsTer15)
c.2077_2078insGT (p.Val693GlyfsTer15)
n.3113_3114insGT
c.2074_2075insGT (p.Val692GlyfsTer15)
c.2119_2120insGT (p.Val707GlyfsTer15)
n.2454_2455insGT
c.2116_2117insGT (p.Val706GlyfsTer15)
c.2041_2042insGT (p.Val681GlyfsTer15)
c.2038_2039insGT (p.Val680GlyfsTer15)
c.2026_2027insGT (p.Val676GlyfsTer15)
 gnomAD v4
11g.22272874T>ACA379923815ANO5n.137T>A
c.1670T>A (p.Val557Glu)
c.2078T>A (p.Val693Glu)
n.3114T>A
c.2075T>A (p.Val692Glu)
c.2120T>A (p.Val707Glu)
n.2455T>A
c.2117T>A (p.Val706Glu)
c.2042T>A (p.Val681Glu)
c.2039T>A (p.Val680Glu)
c.2027T>A (p.Val676Glu)
11g.22272874T>CCA379923816ANO5n.137T>C
c.1670T>C (p.Val557Ala)
c.2078T>C (p.Val693Ala)
n.3114T>C
c.2075T>C (p.Val692Ala)
c.2120T>C (p.Val707Ala)
n.2455T>C
c.2117T>C (p.Val706Ala)
c.2042T>C (p.Val681Ala)
c.2039T>C (p.Val680Ala)
c.2027T>C (p.Val676Ala)
 gnomAD v4
11g.22272874T>GCA379923814ANO5n.137T>G
c.1670T>G (p.Val557Gly)
c.2078T>G (p.Val693Gly)
n.3114T>G
c.2075T>G (p.Val692Gly)
c.2120T>G (p.Val707Gly)
n.2455T>G
c.2117T>G (p.Val706Gly)
c.2042T>G (p.Val681Gly)
c.2039T>G (p.Val680Gly)
c.2027T>G (p.Val676Gly)
11g.22272875G>ACA473407533ANO5n.138G>A
c.1671G>A (p.Val557=)
c.2079G>A (p.Val693=)
n.3115G>A
c.2076G>A (p.Val692=)
c.2121G>A (p.Val707=)
n.2456G>A
c.2118G>A (p.Val706=)
c.2043G>A (p.Val681=)
c.2040G>A (p.Val680=)
c.2028G>A (p.Val676=)
11g.22272875G>CCA473407534ANO5n.138G>C
c.1671G>C (p.Val557=)
c.2079G>C (p.Val693=)
n.3115G>C
c.2076G>C (p.Val692=)
c.2121G>C (p.Val707=)
n.2456G>C
c.2118G>C (p.Val706=)
c.2043G>C (p.Val681=)
c.2040G>C (p.Val680=)
c.2028G>C (p.Val676=)
11g.22272875G>TCA473407535ANO5n.138G>T
c.1671G>T (p.Val557=)
c.2079G>T (p.Val693=)
n.3115G>T
c.2076G>T (p.Val692=)
c.2121G>T (p.Val707=)
n.2456G>T
c.2118G>T (p.Val706=)
c.2043G>T (p.Val681=)
c.2040G>T (p.Val680=)
c.2028G>T (p.Val676=)
 COSMIC
11g.22272876G>ACA379923817ANO5n.139G>A
c.1672G>A (p.Asp558Asn)
c.2080G>A (p.Asp694Asn)
n.3116G>A
c.2077G>A (p.Asp693Asn)
c.2122G>A (p.Asp708Asn)
n.2457G>A
c.2119G>A (p.Asp707Asn)
c.2044G>A (p.Asp682Asn)
c.2041G>A (p.Asp681Asn)
c.2029G>A (p.Asp677Asn)
 dbSNP gnomAD v4
11g.22272876G>CCA379923818ANO5n.139G>C
c.1672G>C (p.Asp558His)
c.2080G>C (p.Asp694His)
n.3116G>C
c.2077G>C (p.Asp693His)
c.2122G>C (p.Asp708His)
n.2457G>C
c.2119G>C (p.Asp707His)
c.2044G>C (p.Asp682His)
c.2041G>C (p.Asp681His)
c.2029G>C (p.Asp677His)
11g.22272876G=CA1957402914ANO5n.139G=
c.1672G= (p.Asp558=)
c.2080G= (p.Asp694=)
n.3116G=
c.2077G= (p.Asp693=)
c.2122G= (p.Asp708=)
n.2457G=
c.2119G= (p.Asp707=)
c.2044G= (p.Asp682=)
c.2041G= (p.Asp681=)
c.2029G= (p.Asp677=)
11g.22272876G>TCA379923819ANO5n.139G>T
c.1672G>T (p.Asp558Tyr)
c.2080G>T (p.Asp694Tyr)
n.3116G>T
c.2077G>T (p.Asp693Tyr)
c.2122G>T (p.Asp708Tyr)
n.2457G>T
c.2119G>T (p.Asp707Tyr)
c.2044G>T (p.Asp682Tyr)
c.2041G>T (p.Asp681Tyr)
c.2029G>T (p.Asp677Tyr)
 gnomAD v4
11g.22272877A=CA1957402920ANO5n.140A=
c.1673A= (p.Asp558=)
c.2081A= (p.Asp694=)
n.3117A=
c.2078A= (p.Asp693=)
c.2123A= (p.Asp708=)
n.2458A=
c.2120A= (p.Asp707=)
c.2045A= (p.Asp682=)
c.2042A= (p.Asp681=)
c.2030A= (p.Asp677=)
11g.22272877A>CCA379923820ANO5n.140A>C
c.1673A>C (p.Asp558Ala)
c.2081A>C (p.Asp694Ala)
n.3117A>C
c.2078A>C (p.Asp693Ala)
c.2123A>C (p.Asp708Ala)
n.2458A>C
c.2120A>C (p.Asp707Ala)
c.2045A>C (p.Asp682Ala)
c.2042A>C (p.Asp681Ala)
c.2030A>C (p.Asp677Ala)
11g.22272877A>GCA5923460ANO5n.140A>G
c.1673A>G (p.Asp558Gly)
c.2081A>G (p.Asp694Gly)
n.3117A>G
c.2078A>G (p.Asp693Gly)
c.2123A>G (p.Asp708Gly)
n.2458A>G
c.2120A>G (p.Asp707Gly)
c.2045A>G (p.Asp682Gly)
c.2042A>G (p.Asp681Gly)
c.2030A>G (p.Asp677Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272877A>TCA379923821ANO5n.140A>T
c.1673A>T (p.Asp558Val)
c.2081A>T (p.Asp694Val)
n.3117A>T
c.2078A>T (p.Asp693Val)
c.2123A>T (p.Asp708Val)
n.2458A>T
c.2120A>T (p.Asp707Val)
c.2045A>T (p.Asp682Val)
c.2042A>T (p.Asp681Val)
c.2030A>T (p.Asp677Val)
11g.22272878T>ACA379923822ANO5n.141T>A
c.1674T>A (p.Asp558Glu)
c.2082T>A (p.Asp694Glu)
n.3118T>A
c.2079T>A (p.Asp693Glu)
c.2124T>A (p.Asp708Glu)
n.2459T>A
c.2121T>A (p.Asp707Glu)
c.2046T>A (p.Asp682Glu)
c.2043T>A (p.Asp681Glu)
c.2031T>A (p.Asp677Glu)
11g.22272878T>CCA473407536ANO5n.141T>C
c.1674T>C (p.Asp558=)
c.2082T>C (p.Asp694=)
n.3118T>C
c.2079T>C (p.Asp693=)
c.2124T>C (p.Asp708=)
n.2459T>C
c.2121T>C (p.Asp707=)
c.2046T>C (p.Asp682=)
c.2043T>C (p.Asp681=)
c.2031T>C (p.Asp677=)
11g.22272878T>GCA379923823ANO5n.141T>G
c.1674T>G (p.Asp558Glu)
c.2082T>G (p.Asp694Glu)
n.3118T>G
c.2079T>G (p.Asp693Glu)
c.2124T>G (p.Asp708Glu)
n.2459T>G
c.2121T>G (p.Asp707Glu)
c.2046T>G (p.Asp682Glu)
c.2043T>G (p.Asp681Glu)
c.2031T>G (p.Asp677Glu)
11g.22272879G>ACA379923824ANO5n.142G>A
c.1675G>A (p.Ala559Thr)
c.2083G>A (p.Ala695Thr)
n.3119G>A
c.2080G>A (p.Ala694Thr)
c.2125G>A (p.Ala709Thr)
n.2460G>A
c.2122G>A (p.Ala708Thr)
c.2047G>A (p.Ala683Thr)
c.2044G>A (p.Ala682Thr)
c.2032G>A (p.Ala678Thr)
11g.22272879G>CCA379923825ANO5n.142G>C
c.1675G>C (p.Ala559Pro)
c.2083G>C (p.Ala695Pro)
n.3119G>C
c.2080G>C (p.Ala694Pro)
c.2125G>C (p.Ala709Pro)
n.2460G>C
c.2122G>C (p.Ala708Pro)
c.2047G>C (p.Ala683Pro)
c.2044G>C (p.Ala682Pro)
c.2032G>C (p.Ala678Pro)
 gnomAD v4
11g.22272879G=CA1957402925ANO5n.142G=
c.1675G= (p.Ala559=)
c.2083G= (p.Ala695=)
n.3119G=
c.2080G= (p.Ala694=)
c.2125G= (p.Ala709=)
n.2460G=
c.2122G= (p.Ala708=)
c.2047G= (p.Ala683=)
c.2044G= (p.Ala682=)
c.2032G= (p.Ala678=)
11g.22272879G>TCA218775845ANO5n.142G>T
c.1675G>T (p.Ala559Ser)
c.2083G>T (p.Ala695Ser)
n.3119G>T
c.2080G>T (p.Ala694Ser)
c.2125G>T (p.Ala709Ser)
n.2460G>T
c.2122G>T (p.Ala708Ser)
c.2047G>T (p.Ala683Ser)
c.2044G>T (p.Ala682Ser)
c.2032G>T (p.Ala678Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.22272880C>ACA379923828ANO5n.143C>A
c.1676C>A (p.Ala559Asp)
c.2084C>A (p.Ala695Asp)
n.3120C>A
c.2081C>A (p.Ala694Asp)
c.2126C>A (p.Ala709Asp)
n.2461C>A
c.2123C>A (p.Ala708Asp)
c.2048C>A (p.Ala683Asp)
c.2045C>A (p.Ala682Asp)
c.2033C>A (p.Ala678Asp)
11g.22272880C>GCA379923827ANO5n.143C>G
c.1676C>G (p.Ala559Gly)
c.2084C>G (p.Ala695Gly)
n.3120C>G
c.2081C>G (p.Ala694Gly)
c.2126C>G (p.Ala709Gly)
n.2461C>G
c.2123C>G (p.Ala708Gly)
c.2048C>G (p.Ala683Gly)
c.2045C>G (p.Ala682Gly)
c.2033C>G (p.Ala678Gly)
11g.22272880C>TCA379923826ANO5n.143C>T
c.1676C>T (p.Ala559Val)
c.2084C>T (p.Ala695Val)
n.3120C>T
c.2081C>T (p.Ala694Val)
c.2126C>T (p.Ala709Val)
n.2461C>T
c.2123C>T (p.Ala708Val)
c.2048C>T (p.Ala683Val)
c.2045C>T (p.Ala682Val)
c.2033C>T (p.Ala678Val)
11g.22272881C>ACA473407537ANO5n.144C>A
c.1677C>A (p.Ala559=)
c.2085C>A (p.Ala695=)
n.3121C>A
c.2082C>A (p.Ala694=)
c.2127C>A (p.Ala709=)
n.2462C>A
c.2124C>A (p.Ala708=)
c.2049C>A (p.Ala683=)
c.2046C>A (p.Ala682=)
c.2034C>A (p.Ala678=)
11g.22272881C=CA1957402929ANO5n.144C=
c.1677C= (p.Ala559=)
c.2085C= (p.Ala695=)
n.3121C=
c.2082C= (p.Ala694=)
c.2127C= (p.Ala709=)
n.2462C=
c.2124C= (p.Ala708=)
c.2049C= (p.Ala683=)
c.2046C= (p.Ala682=)
c.2034C= (p.Ala678=)
11g.22272881C>GCA473407538ANO5n.144C>G
c.1677C>G (p.Ala559=)
c.2085C>G (p.Ala695=)
n.3121C>G
c.2082C>G (p.Ala694=)
c.2127C>G (p.Ala709=)
n.2462C>G
c.2124C>G (p.Ala708=)
c.2049C>G (p.Ala683=)
c.2046C>G (p.Ala682=)
c.2034C>G (p.Ala678=)
11g.22272881C>TCA5923461ANO5n.144C>T
c.1677C>T (p.Ala559=)
c.2085C>T (p.Ala695=)
n.3121C>T
c.2082C>T (p.Ala694=)
c.2127C>T (p.Ala709=)
n.2462C>T
c.2124C>T (p.Ala708=)
c.2049C>T (p.Ala683=)
c.2046C>T (p.Ala682=)
c.2034C>T (p.Ala678=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272882T>ACA379923829ANO5n.145T>A
c.1678T>A (p.Trp560Arg)
c.2086T>A (p.Trp696Arg)
n.3122T>A
c.2083T>A (p.Trp695Arg)
c.2128T>A (p.Trp710Arg)
n.2463T>A
c.2125T>A (p.Trp709Arg)
c.2050T>A (p.Trp684Arg)
c.2047T>A (p.Trp683Arg)
c.2035T>A (p.Trp679Arg)
11g.22272882T>CCA379923830ANO5n.145T>C
c.1678T>C (p.Trp560Arg)
c.2086T>C (p.Trp696Arg)
n.3122T>C
c.2083T>C (p.Trp695Arg)
c.2128T>C (p.Trp710Arg)
n.2463T>C
c.2125T>C (p.Trp709Arg)
c.2050T>C (p.Trp684Arg)
c.2047T>C (p.Trp683Arg)
c.2035T>C (p.Trp679Arg)
11g.22272882T>GCA379923831ANO5n.145T>G
c.1678T>G (p.Trp560Gly)
c.2086T>G (p.Trp696Gly)
n.3122T>G
c.2083T>G (p.Trp695Gly)
c.2128T>G (p.Trp710Gly)
n.2463T>G
c.2125T>G (p.Trp709Gly)
c.2050T>G (p.Trp684Gly)
c.2047T>G (p.Trp683Gly)
c.2035T>G (p.Trp679Gly)
11g.22272882_22272883delCA2555224231ANO5n.145_146del
c.1678_1679del (p.Trp560GlufsTer13)
c.2086_2087del (p.Trp696GlufsTer13)
n.3122_3123del
c.2083_2084del (p.Trp695GlufsTer13)
c.2128_2129del (p.Trp710GlufsTer13)
n.2463_2464del
c.2125_2126del (p.Trp709GlufsTer13)
c.2050_2051del (p.Trp684GlufsTer13)
c.2047_2048del (p.Trp683GlufsTer13)
c.2035_2036del (p.Trp679GlufsTer13)
11g.22272883G>ACA379923832ANO5n.146G>A
c.1679G>A (p.Trp560Ter)
c.2087G>A (p.Trp696Ter)
n.3123G>A
c.2084G>A (p.Trp695Ter)
c.2129G>A (p.Trp710Ter)
n.2464G>A
c.2126G>A (p.Trp709Ter)
c.2051G>A (p.Trp684Ter)
c.2048G>A (p.Trp683Ter)
c.2036G>A (p.Trp679Ter)
11g.22272883G>CCA379923833ANO5n.146G>C
c.1679G>C (p.Trp560Ser)
c.2087G>C (p.Trp696Ser)
n.3123G>C
c.2084G>C (p.Trp695Ser)
c.2129G>C (p.Trp710Ser)
n.2464G>C
c.2126G>C (p.Trp709Ser)
c.2051G>C (p.Trp684Ser)
c.2048G>C (p.Trp683Ser)
c.2036G>C (p.Trp679Ser)
11g.22272883G>TCA379923834ANO5n.146G>T
c.1679G>T (p.Trp560Leu)
c.2087G>T (p.Trp696Leu)
n.3123G>T
c.2084G>T (p.Trp695Leu)
c.2129G>T (p.Trp710Leu)
n.2464G>T
c.2126G>T (p.Trp709Leu)
c.2051G>T (p.Trp684Leu)
c.2048G>T (p.Trp683Leu)
c.2036G>T (p.Trp679Leu)
11g.22272884G>ACA379923835ANO5n.147G>A
c.1680G>A (p.Trp560Ter)
c.2088G>A (p.Trp696Ter)
n.3124G>A
c.2085G>A (p.Trp695Ter)
c.2130G>A (p.Trp710Ter)
n.2465G>A
c.2127G>A (p.Trp709Ter)
c.2052G>A (p.Trp684Ter)
c.2049G>A (p.Trp683Ter)
c.2037G>A (p.Trp679Ter)
11g.22272884G>CCA379923836ANO5n.147G>C
c.1680G>C (p.Trp560Cys)
c.2088G>C (p.Trp696Cys)
n.3124G>C
c.2085G>C (p.Trp695Cys)
c.2130G>C (p.Trp710Cys)
n.2465G>C
c.2127G>C (p.Trp709Cys)
c.2052G>C (p.Trp684Cys)
c.2049G>C (p.Trp683Cys)
c.2037G>C (p.Trp679Cys)
11g.22272884G>TCA379923837ANO5n.147G>T
c.1680G>T (p.Trp560Cys)
c.2088G>T (p.Trp696Cys)
n.3124G>T
c.2085G>T (p.Trp695Cys)
c.2130G>T (p.Trp710Cys)
n.2465G>T
c.2127G>T (p.Trp709Cys)
c.2052G>T (p.Trp684Cys)
c.2049G>T (p.Trp683Cys)
c.2037G>T (p.Trp679Cys)
11g.22272884_22272885insTATCATTAAACA2569459427ANO5n.147_148insTATCATTAAA
c.1680_1681insTATCATTAAA (p.Lys561TyrfsTer3)
c.2088_2089insTATCATTAAA (p.Lys697TyrfsTer3)
n.3124_3125insTATCATTAAA
c.2085_2086insTATCATTAAA (p.Lys696TyrfsTer3)
c.2130_2131insTATCATTAAA (p.Lys711TyrfsTer3)
n.2465_2466insTATCATTAAA
c.2127_2128insTATCATTAAA (p.Lys710TyrfsTer3)
c.2052_2053insTATCATTAAA (p.Lys685TyrfsTer3)
c.2049_2050insTATCATTAAA (p.Lys684TyrfsTer3)
c.2037_2038insTATCATTAAA (p.Lys680TyrfsTer3)
11g.22272885A>CCA379923838ANO5n.148A>C
c.1681A>C (p.Lys561Gln)
c.2089A>C (p.Lys697Gln)
n.3125A>C
c.2086A>C (p.Lys696Gln)
c.2131A>C (p.Lys711Gln)
n.2466A>C
c.2128A>C (p.Lys710Gln)
c.2053A>C (p.Lys685Gln)
c.2050A>C (p.Lys684Gln)
c.2038A>C (p.Lys680Gln)
11g.22272885A>GCA379923839ANO5n.148A>G
c.1681A>G (p.Lys561Glu)
c.2089A>G (p.Lys697Glu)
n.3125A>G
c.2086A>G (p.Lys696Glu)
c.2131A>G (p.Lys711Glu)
n.2466A>G
c.2128A>G (p.Lys710Glu)
c.2053A>G (p.Lys685Glu)
c.2050A>G (p.Lys684Glu)
c.2038A>G (p.Lys680Glu)
11g.22272885A>TCA379923840ANO5n.148A>T
c.1681A>T (p.Lys561Ter)
c.2089A>T (p.Lys697Ter)
n.3125A>T
c.2086A>T (p.Lys696Ter)
c.2131A>T (p.Lys711Ter)
n.2466A>T
c.2128A>T (p.Lys710Ter)
c.2053A>T (p.Lys685Ter)
c.2050A>T (p.Lys684Ter)
c.2038A>T (p.Lys680Ter)
11g.22272886A>CCA379923843ANO5n.149A>C
c.1682A>C (p.Lys561Thr)
c.2090A>C (p.Lys697Thr)
n.3126A>C
c.2087A>C (p.Lys696Thr)
c.2132A>C (p.Lys711Thr)
n.2467A>C
c.2129A>C (p.Lys710Thr)
c.2054A>C (p.Lys685Thr)
c.2051A>C (p.Lys684Thr)
c.2039A>C (p.Lys680Thr)
11g.22272886A>GCA379923842ANO5n.149A>G
c.1682A>G (p.Lys561Arg)
c.2090A>G (p.Lys697Arg)
n.3126A>G
c.2087A>G (p.Lys696Arg)
c.2132A>G (p.Lys711Arg)
n.2467A>G
c.2129A>G (p.Lys710Arg)
c.2054A>G (p.Lys685Arg)
c.2051A>G (p.Lys684Arg)
c.2039A>G (p.Lys680Arg)
11g.22272886A>TCA379923841ANO5n.149A>T
c.1682A>T (p.Lys561Ile)
c.2090A>T (p.Lys697Ile)
n.3126A>T
c.2087A>T (p.Lys696Ile)
c.2132A>T (p.Lys711Ile)
n.2467A>T
c.2129A>T (p.Lys710Ile)
c.2054A>T (p.Lys685Ile)
c.2051A>T (p.Lys684Ile)
c.2039A>T (p.Lys680Ile)
11g.22272887A=CA1957402932ANO5n.150A=
c.1683A= (p.Lys561=)
c.2091A= (p.Lys697=)
n.3127A=
c.2088A= (p.Lys696=)
c.2133A= (p.Lys711=)
n.2468A=
c.2130A= (p.Lys710=)
c.2055A= (p.Lys685=)
c.2052A= (p.Lys684=)
c.2040A= (p.Lys680=)
11g.22272887A>CCA379923844ANO5n.150A>C
c.1683A>C (p.Lys561Asn)
c.2091A>C (p.Lys697Asn)
n.3127A>C
c.2088A>C (p.Lys696Asn)
c.2133A>C (p.Lys711Asn)
n.2468A>C
c.2130A>C (p.Lys710Asn)
c.2055A>C (p.Lys685Asn)
c.2052A>C (p.Lys684Asn)
c.2040A>C (p.Lys680Asn)
11g.22272887A>GCA5923462ANO5n.150A>G
c.1683A>G (p.Lys561=)
c.2091A>G (p.Lys697=)
n.3127A>G
c.2088A>G (p.Lys696=)
c.2133A>G (p.Lys711=)
n.2468A>G
c.2130A>G (p.Lys710=)
c.2055A>G (p.Lys685=)
c.2052A>G (p.Lys684=)
c.2040A>G (p.Lys680=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272887A>TCA379923845ANO5n.150A>T
c.1683A>T (p.Lys561Asn)
c.2091A>T (p.Lys697Asn)
n.3127A>T
c.2088A>T (p.Lys696Asn)
c.2133A>T (p.Lys711Asn)
n.2468A>T
c.2130A>T (p.Lys710Asn)
c.2055A>T (p.Lys685Asn)
c.2052A>T (p.Lys684Asn)
c.2040A>T (p.Lys680Asn)
11g.22272888C>ACA379923846ANO5n.151C>A
c.1684C>A (p.Leu562Ile)
c.2092C>A (p.Leu698Ile)
n.3128C>A
c.2089C>A (p.Leu697Ile)
c.2134C>A (p.Leu712Ile)
n.2469C>A
c.2131C>A (p.Leu711Ile)
c.2056C>A (p.Leu686Ile)
c.2053C>A (p.Leu685Ile)
c.2041C>A (p.Leu681Ile)
11g.22272888C=CA1957402937ANO5n.151C=
c.1684C= (p.Leu562=)
c.2092C= (p.Leu698=)
n.3128C=
c.2089C= (p.Leu697=)
c.2134C= (p.Leu712=)
n.2469C=
c.2131C= (p.Leu711=)
c.2056C= (p.Leu686=)
c.2053C= (p.Leu685=)
c.2041C= (p.Leu681=)
11g.22272888C>GCA379923847ANO5n.151C>G
c.1684C>G (p.Leu562Val)
c.2092C>G (p.Leu698Val)
n.3128C>G
c.2089C>G (p.Leu697Val)
c.2134C>G (p.Leu712Val)
n.2469C>G
c.2131C>G (p.Leu711Val)
c.2056C>G (p.Leu686Val)
c.2053C>G (p.Leu685Val)
c.2041C>G (p.Leu681Val)
11g.22272888C>TCA379923848ANO5n.151C>T
c.1684C>T (p.Leu562Phe)
c.2092C>T (p.Leu698Phe)
n.3128C>T
c.2089C>T (p.Leu697Phe)
c.2134C>T (p.Leu712Phe)
n.2469C>T
c.2131C>T (p.Leu711Phe)
c.2056C>T (p.Leu686Phe)
c.2053C>T (p.Leu685Phe)
c.2041C>T (p.Leu681Phe)
 dbSNP gnomAD v4
11g.22272888_22272893delCA2539060843ANO5n.151_156del
c.1684_1689del (p.Leu562_Thr563del)
c.2092_2097del (p.Leu698_Thr699del)
n.3128_3133del
c.2089_2094del (p.Leu697_Thr698del)
c.2134_2139del (p.Leu712_Thr713del)
n.2469_2474del
c.2131_2136del (p.Leu711_Thr712del)
c.2056_2061del (p.Leu686_Thr687del)
c.2053_2058del (p.Leu685_Thr686del)
c.2041_2046del (p.Leu681_Thr682del)
11g.22272889T>ACA379923849ANO5n.152T>A
c.1685T>A (p.Leu562His)
c.2093T>A (p.Leu698His)
n.3129T>A
c.2090T>A (p.Leu697His)
c.2135T>A (p.Leu712His)
n.2470T>A
c.2132T>A (p.Leu711His)
c.2057T>A (p.Leu686His)
c.2054T>A (p.Leu685His)
c.2042T>A (p.Leu681His)
11g.22272889T>CCA379923850ANO5n.152T>C
c.1685T>C (p.Leu562Pro)
c.2093T>C (p.Leu698Pro)
n.3129T>C
c.2090T>C (p.Leu697Pro)
c.2135T>C (p.Leu712Pro)
n.2470T>C
c.2132T>C (p.Leu711Pro)
c.2057T>C (p.Leu686Pro)
c.2054T>C (p.Leu685Pro)
c.2042T>C (p.Leu681Pro)
11g.22272889T>GCA379923851ANO5n.152T>G
c.1685T>G (p.Leu562Arg)
c.2093T>G (p.Leu698Arg)
n.3129T>G
c.2090T>G (p.Leu697Arg)
c.2135T>G (p.Leu712Arg)
n.2470T>G
c.2132T>G (p.Leu711Arg)
c.2057T>G (p.Leu686Arg)
c.2054T>G (p.Leu685Arg)
c.2042T>G (p.Leu681Arg)
11g.22272890T>ACA473407539ANO5n.153T>A
c.1686T>A (p.Leu562=)
c.2094T>A (p.Leu698=)
n.3130T>A
c.2091T>A (p.Leu697=)
c.2136T>A (p.Leu712=)
n.2471T>A
c.2133T>A (p.Leu711=)
c.2058T>A (p.Leu686=)
c.2055T>A (p.Leu685=)
c.2043T>A (p.Leu681=)
11g.22272890T>CCA473407540ANO5n.153T>C
c.1686T>C (p.Leu562=)
c.2094T>C (p.Leu698=)
n.3130T>C
c.2091T>C (p.Leu697=)
c.2136T>C (p.Leu712=)
n.2471T>C
c.2133T>C (p.Leu711=)
c.2058T>C (p.Leu686=)
c.2055T>C (p.Leu685=)
c.2043T>C (p.Leu681=)
11g.22272890T>GCA473407541ANO5n.153T>G
c.1686T>G (p.Leu562=)
c.2094T>G (p.Leu698=)
n.3130T>G
c.2091T>G (p.Leu697=)
c.2136T>G (p.Leu712=)
n.2471T>G
c.2133T>G (p.Leu711=)
c.2058T>G (p.Leu686=)
c.2055T>G (p.Leu685=)
c.2043T>G (p.Leu681=)
11g.22272891A=CA1957402945ANO5n.154A=
c.1687A= (p.Thr563=)
c.2095A= (p.Thr699=)
n.3131A=
c.2092A= (p.Thr698=)
c.2137A= (p.Thr713=)
n.2472A=
c.2134A= (p.Thr712=)
c.2059A= (p.Thr687=)
c.2056A= (p.Thr686=)
c.2044A= (p.Thr682=)
11g.22272891A>CCA379923852ANO5n.154A>C
c.1687A>C (p.Thr563Pro)
c.2095A>C (p.Thr699Pro)
n.3131A>C
c.2092A>C (p.Thr698Pro)
c.2137A>C (p.Thr713Pro)
n.2472A>C
c.2134A>C (p.Thr712Pro)
c.2059A>C (p.Thr687Pro)
c.2056A>C (p.Thr686Pro)
c.2044A>C (p.Thr682Pro)
11g.22272891A>GCA5923463ANO5n.154A>G
c.1687A>G (p.Thr563Ala)
c.2095A>G (p.Thr699Ala)
n.3131A>G
c.2092A>G (p.Thr698Ala)
c.2137A>G (p.Thr713Ala)
n.2472A>G
c.2134A>G (p.Thr712Ala)
c.2059A>G (p.Thr687Ala)
c.2056A>G (p.Thr686Ala)
c.2044A>G (p.Thr682Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272891A>TCA379923853ANO5n.154A>T
c.1687A>T (p.Thr563Ser)
c.2095A>T (p.Thr699Ser)
n.3131A>T
c.2092A>T (p.Thr698Ser)
c.2137A>T (p.Thr713Ser)
n.2472A>T
c.2134A>T (p.Thr712Ser)
c.2059A>T (p.Thr687Ser)
c.2056A>T (p.Thr686Ser)
c.2044A>T (p.Thr682Ser)
11g.22272892C>ACA379923854ANO5n.155C>A
c.1688C>A (p.Thr563Asn)
c.2096C>A (p.Thr699Asn)
n.3132C>A
c.2093C>A (p.Thr698Asn)
c.2138C>A (p.Thr713Asn)
n.2473C>A
c.2135C>A (p.Thr712Asn)
c.2060C>A (p.Thr687Asn)
c.2057C>A (p.Thr686Asn)
c.2045C>A (p.Thr682Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.22272892C=CA1957402949ANO5n.155C=
c.1688C= (p.Thr563=)
c.2096C= (p.Thr699=)
n.3132C=
c.2093C= (p.Thr698=)
c.2138C= (p.Thr713=)
n.2473C=
c.2135C= (p.Thr712=)
c.2060C= (p.Thr687=)
c.2057C= (p.Thr686=)
c.2045C= (p.Thr682=)
11g.22272892C>GCA379923855ANO5n.155C>G
c.1688C>G (p.Thr563Ser)
c.2096C>G (p.Thr699Ser)
n.3132C>G
c.2093C>G (p.Thr698Ser)
c.2138C>G (p.Thr713Ser)
n.2473C>G
c.2135C>G (p.Thr712Ser)
c.2060C>G (p.Thr687Ser)
c.2057C>G (p.Thr686Ser)
c.2045C>G (p.Thr682Ser)
11g.22272892C>TCA379923856ANO5n.155C>T
c.1688C>T (p.Thr563Ile)
c.2096C>T (p.Thr699Ile)
n.3132C>T
c.2093C>T (p.Thr698Ile)
c.2138C>T (p.Thr713Ile)
n.2473C>T
c.2135C>T (p.Thr712Ile)
c.2060C>T (p.Thr687Ile)
c.2057C>T (p.Thr686Ile)
c.2045C>T (p.Thr682Ile)
 ClinVar dbSNP gnomAD v4
11g.22272893C>ACA473407542ANO5n.156C>A
c.1689C>A (p.Thr563=)
c.2097C>A (p.Thr699=)
n.3133C>A
c.2094C>A (p.Thr698=)
c.2139C>A (p.Thr713=)
n.2474C>A
c.2136C>A (p.Thr712=)
c.2061C>A (p.Thr687=)
c.2058C>A (p.Thr686=)
c.2046C>A (p.Thr682=)
11g.22272893C=CA1957402953ANO5n.156C=
c.1689C= (p.Thr563=)
c.2097C= (p.Thr699=)
n.3133C=
c.2094C= (p.Thr698=)
c.2139C= (p.Thr713=)
n.2474C=
c.2136C= (p.Thr712=)
c.2061C= (p.Thr687=)
c.2058C= (p.Thr686=)
c.2046C= (p.Thr682=)
11g.22272893C>GCA473407543ANO5n.156C>G
c.1689C>G (p.Thr563=)
c.2097C>G (p.Thr699=)
n.3133C>G
c.2094C>G (p.Thr698=)
c.2139C>G (p.Thr713=)
n.2474C>G
c.2136C>G (p.Thr712=)
c.2061C>G (p.Thr687=)
c.2058C>G (p.Thr686=)
c.2046C>G (p.Thr682=)
11g.22272893C>TCA5923464ANO5n.156C>T
c.1689C>T (p.Thr563=)
c.2097C>T (p.Thr699=)
n.3133C>T
c.2094C>T (p.Thr698=)
c.2139C>T (p.Thr713=)
n.2474C>T
c.2136C>T (p.Thr712=)
c.2061C>T (p.Thr687=)
c.2058C>T (p.Thr686=)
c.2046C>T (p.Thr682=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272895_22272898dupCA2695213375ANO5n.158_161dup
c.1691_1694dup (p.Gln565HisfsTer10)
c.2099_2102dup (p.Gln701HisfsTer10)
n.3135_3138dup
c.2096_2099dup (p.Gln700HisfsTer10)
c.2141_2144dup (p.Gln715HisfsTer10)
n.2476_2479dup
c.2138_2141dup (p.Gln714HisfsTer10)
c.2063_2066dup (p.Gln689HisfsTer10)
c.2060_2063dup (p.Gln688HisfsTer10)
c.2048_2051dup (p.Gln684HisfsTer10)
11g.22272894A=CA1957402957ANO5n.157A=
c.1690A= (p.Thr564=)
c.2098A= (p.Thr700=)
n.3134A=
c.2095A= (p.Thr699=)
c.2140A= (p.Thr714=)
n.2475A=
c.2137A= (p.Thr713=)
c.2062A= (p.Thr688=)
c.2059A= (p.Thr687=)
c.2047A= (p.Thr683=)
11g.22272894A>CCA379923857ANO5n.157A>C
c.1690A>C (p.Thr564Pro)
c.2098A>C (p.Thr700Pro)
n.3134A>C
c.2095A>C (p.Thr699Pro)
c.2140A>C (p.Thr714Pro)
n.2475A>C
c.2137A>C (p.Thr713Pro)
c.2062A>C (p.Thr688Pro)
c.2059A>C (p.Thr687Pro)
c.2047A>C (p.Thr683Pro)
11g.22272894A>GCA218775863ANO5n.157A>G
c.1690A>G (p.Thr564Ala)
c.2098A>G (p.Thr700Ala)
n.3134A>G
c.2095A>G (p.Thr699Ala)
c.2140A>G (p.Thr714Ala)
n.2475A>G
c.2137A>G (p.Thr713Ala)
c.2062A>G (p.Thr688Ala)
c.2059A>G (p.Thr687Ala)
c.2047A>G (p.Thr683Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.22272894A>TCA379923858ANO5n.157A>T
c.1690A>T (p.Thr564Ser)
c.2098A>T (p.Thr700Ser)
n.3134A>T
c.2095A>T (p.Thr699Ser)
c.2140A>T (p.Thr714Ser)
n.2475A>T
c.2137A>T (p.Thr713Ser)
c.2062A>T (p.Thr688Ser)
c.2059A>T (p.Thr687Ser)
c.2047A>T (p.Thr683Ser)
11g.22272894_22272895delinsACCA1957402959ANO5n.157_158delinsAC
c.1690_1691delinsAC (p.Thr564=)
c.2098_2099delinsAC (p.Thr700=)
n.3134_3135delinsAC
c.2095_2096delinsAC (p.Thr699=)
c.2140_2141delinsAC (p.Thr714=)
n.2475_2476delinsAC
c.2137_2138delinsAC (p.Thr713=)
c.2062_2063delinsAC (p.Thr688=)
c.2059_2060delinsAC (p.Thr687=)
c.2047_2048delinsAC (p.Thr683=)
11g.22272895delCA5923465ANO5n.158del
c.1691del (p.Thr564IlefsTer7)
c.2099del (p.Thr700IlefsTer7)
n.3135del
c.2096del (p.Thr699IlefsTer7)
c.2141del (p.Thr714IlefsTer7)
n.2476del
c.2138del (p.Thr713IlefsTer7)
c.2063del (p.Thr688IlefsTer7)
c.2060del (p.Thr687IlefsTer7)
c.2048del (p.Thr683IlefsTer7)
 dbSNP ExAC gnomAD v2
11g.22272895C>ACA379923859ANO5n.158C>A
c.1691C>A (p.Thr564Asn)
c.2099C>A (p.Thr700Asn)
n.3135C>A
c.2096C>A (p.Thr699Asn)
c.2141C>A (p.Thr714Asn)
n.2476C>A
c.2138C>A (p.Thr713Asn)
c.2063C>A (p.Thr688Asn)
c.2060C>A (p.Thr687Asn)
c.2048C>A (p.Thr683Asn)
11g.22272895C=CA1957402968ANO5n.158C=
c.1691C= (p.Thr564=)
c.2099C= (p.Thr700=)
n.3135C=
c.2096C= (p.Thr699=)
c.2141C= (p.Thr714=)
n.2476C=
c.2138C= (p.Thr713=)
c.2063C= (p.Thr688=)
c.2060C= (p.Thr687=)
c.2048C= (p.Thr683=)
11g.22272895C>GCA241255ANO5n.158C>G
c.1691C>G (p.Thr564Ser)
c.2099C>G (p.Thr700Ser)
n.3135C>G
c.2096C>G (p.Thr699Ser)
c.2141C>G (p.Thr714Ser)
n.2476C>G
c.2138C>G (p.Thr713Ser)
c.2063C>G (p.Thr688Ser)
c.2060C>G (p.Thr687Ser)
c.2048C>G (p.Thr683Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272895C>TCA379923860ANO5n.158C>T
c.1691C>T (p.Thr564Ile)
c.2099C>T (p.Thr700Ile)
n.3135C>T
c.2096C>T (p.Thr699Ile)
c.2141C>T (p.Thr714Ile)
n.2476C>T
c.2138C>T (p.Thr713Ile)
c.2063C>T (p.Thr688Ile)
c.2060C>T (p.Thr687Ile)
c.2048C>T (p.Thr683Ile)
11g.22272896delCA379923861ANO5n.159del
c.1692del (p.Gln565AsnfsTer6)
c.2100del (p.Gln701AsnfsTer6)
n.3136del
c.2097del (p.Gln700AsnfsTer6)
c.2142del (p.Gln715AsnfsTer6)
n.2477del
c.2139del (p.Gln714AsnfsTer6)
c.2064del (p.Gln689AsnfsTer6)
c.2061del (p.Gln688AsnfsTer6)
c.2049del (p.Gln684AsnfsTer6)
11g.22272896T>ACA473407544ANO5n.159T>A
c.1692T>A (p.Thr564=)
c.2100T>A (p.Thr700=)
n.3136T>A
c.2097T>A (p.Thr699=)
c.2142T>A (p.Thr714=)
n.2477T>A
c.2139T>A (p.Thr713=)
c.2064T>A (p.Thr688=)
c.2061T>A (p.Thr687=)
c.2049T>A (p.Thr683=)
11g.22272896T>CCA473407545ANO5n.159T>C
c.1692T>C (p.Thr564=)
c.2100T>C (p.Thr700=)
n.3136T>C
c.2097T>C (p.Thr699=)
c.2142T>C (p.Thr714=)
n.2477T>C
c.2139T>C (p.Thr713=)
c.2064T>C (p.Thr688=)
c.2061T>C (p.Thr687=)
c.2049T>C (p.Thr683=)
11g.22272896T>GCA473407546ANO5n.159T>G
c.1692T>G (p.Thr564=)
c.2100T>G (p.Thr700=)
n.3136T>G
c.2097T>G (p.Thr699=)
c.2142T>G (p.Thr714=)
n.2477T>G
c.2139T>G (p.Thr713=)
c.2064T>G (p.Thr688=)
c.2061T>G (p.Thr687=)
c.2049T>G (p.Thr683=)
 gnomAD v4
11g.22272897C>ACA379923862ANO5n.160C>A
c.1693C>A (p.Gln565Lys)
c.2101C>A (p.Gln701Lys)
n.3137C>A
c.2098C>A (p.Gln700Lys)
c.2143C>A (p.Gln715Lys)
n.2478C>A
c.2140C>A (p.Gln714Lys)
c.2065C>A (p.Gln689Lys)
c.2062C>A (p.Gln688Lys)
c.2050C>A (p.Gln684Lys)
11g.22272897C>GCA379923863ANO5n.160C>G
c.1693C>G (p.Gln565Glu)
c.2101C>G (p.Gln701Glu)
n.3137C>G
c.2098C>G (p.Gln700Glu)
c.2143C>G (p.Gln715Glu)
n.2478C>G
c.2140C>G (p.Gln714Glu)
c.2065C>G (p.Gln689Glu)
c.2062C>G (p.Gln688Glu)
c.2050C>G (p.Gln684Glu)
11g.22272897C>TCA379923864ANO5n.160C>T
c.1693C>T (p.Gln565Ter)
c.2101C>T (p.Gln701Ter)
n.3137C>T
c.2098C>T (p.Gln700Ter)
c.2143C>T (p.Gln715Ter)
n.2478C>T
c.2140C>T (p.Gln714Ter)
c.2065C>T (p.Gln689Ter)
c.2062C>T (p.Gln688Ter)
c.2050C>T (p.Gln684Ter)
11g.22272898A=CA1957402974ANO5n.161A=
c.1694A= (p.Gln565=)
c.2102A= (p.Gln701=)
n.3138A=
c.2099A= (p.Gln700=)
c.2144A= (p.Gln715=)
n.2479A=
c.2141A= (p.Gln714=)
c.2066A= (p.Gln689=)
c.2063A= (p.Gln688=)
c.2051A= (p.Gln684=)
11g.22272898A>CCA379923865ANO5n.161A>C
c.1694A>C (p.Gln565Pro)
c.2102A>C (p.Gln701Pro)
n.3138A>C
c.2099A>C (p.Gln700Pro)
c.2144A>C (p.Gln715Pro)
n.2479A>C
c.2141A>C (p.Gln714Pro)
c.2066A>C (p.Gln689Pro)
c.2063A>C (p.Gln688Pro)
c.2051A>C (p.Gln684Pro)
11g.22272898A>GCA10605538ANO5n.161A>G
c.1694A>G (p.Gln565Arg)
c.2102A>G (p.Gln701Arg)
n.3138A>G
c.2099A>G (p.Gln700Arg)
c.2144A>G (p.Gln715Arg)
n.2479A>G
c.2141A>G (p.Gln714Arg)
c.2066A>G (p.Gln689Arg)
c.2063A>G (p.Gln688Arg)
c.2051A>G (p.Gln684Arg)
 ClinVar dbSNP gnomAD v4
11g.22272898A>TCA379923866ANO5n.161A>T
c.1694A>T (p.Gln565Leu)
c.2102A>T (p.Gln701Leu)
n.3138A>T
c.2099A>T (p.Gln700Leu)
c.2144A>T (p.Gln715Leu)
n.2479A>T
c.2141A>T (p.Gln714Leu)
c.2066A>T (p.Gln689Leu)
c.2063A>T (p.Gln688Leu)
c.2051A>T (p.Gln684Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.22272899A>CCA379923868ANO5n.162A>C
c.1695A>C (p.Gln565His)
c.2103A>C (p.Gln701His)
n.3139A>C
c.2100A>C (p.Gln700His)
c.2145A>C (p.Gln715His)
n.2480A>C
c.2142A>C (p.Gln714His)
c.2067A>C (p.Gln689His)
c.2064A>C (p.Gln688His)
c.2052A>C (p.Gln684His)
11g.22272899A>GCA473407547ANO5n.162A>G
c.1695A>G (p.Gln565=)
c.2103A>G (p.Gln701=)
n.3139A>G
c.2100A>G (p.Gln700=)
c.2145A>G (p.Gln715=)
n.2480A>G
c.2142A>G (p.Gln714=)
c.2067A>G (p.Gln689=)
c.2064A>G (p.Gln688=)
c.2052A>G (p.Gln684=)
 gnomAD v4
11g.22272899A>TCA379923867ANO5n.162A>T
c.1695A>T (p.Gln565His)
c.2103A>T (p.Gln701His)
n.3139A>T
c.2100A>T (p.Gln700His)
c.2145A>T (p.Gln715His)
n.2480A>T
c.2142A>T (p.Gln714His)
c.2067A>T (p.Gln689His)
c.2064A>T (p.Gln688His)
c.2052A>T (p.Gln684His)
11g.22272900T>ACA379923869ANO5n.163T>A
c.1696T>A (p.Tyr566Asn)
c.2104T>A (p.Tyr702Asn)
n.3140T>A
c.2101T>A (p.Tyr701Asn)
c.2146T>A (p.Tyr716Asn)
n.2481T>A
c.2143T>A (p.Tyr715Asn)
c.2068T>A (p.Tyr690Asn)
c.2065T>A (p.Tyr689Asn)
c.2053T>A (p.Tyr685Asn)
11g.22272900T>CCA379923870ANO5n.163T>C
c.1696T>C (p.Tyr566His)
c.2104T>C (p.Tyr702His)
n.3140T>C
c.2101T>C (p.Tyr701His)
c.2146T>C (p.Tyr716His)
n.2481T>C
c.2143T>C (p.Tyr715His)
c.2068T>C (p.Tyr690His)
c.2065T>C (p.Tyr689His)
c.2053T>C (p.Tyr685His)
11g.22272900T>GCA379923871ANO5n.163T>G
c.1696T>G (p.Tyr566Asp)
c.2104T>G (p.Tyr702Asp)
n.3140T>G
c.2101T>G (p.Tyr701Asp)
c.2146T>G (p.Tyr716Asp)
n.2481T>G
c.2143T>G (p.Tyr715Asp)
c.2068T>G (p.Tyr690Asp)
c.2065T>G (p.Tyr689Asp)
c.2053T>G (p.Tyr685Asp)
11g.22272901A=CA1957402981ANO5n.164A=
c.1697A= (p.Tyr566=)
c.2105A= (p.Tyr702=)
n.3141A=
c.2102A= (p.Tyr701=)
c.2147A= (p.Tyr716=)
n.2482A=
c.2144A= (p.Tyr715=)
c.2069A= (p.Tyr690=)
c.2066A= (p.Tyr689=)
c.2054A= (p.Tyr685=)
11g.22272901A>CCA379923872ANO5n.164A>C
c.1697A>C (p.Tyr566Ser)
c.2105A>C (p.Tyr702Ser)
n.3141A>C
c.2102A>C (p.Tyr701Ser)
c.2147A>C (p.Tyr716Ser)
n.2482A>C
c.2144A>C (p.Tyr715Ser)
c.2069A>C (p.Tyr690Ser)
c.2066A>C (p.Tyr689Ser)
c.2054A>C (p.Tyr685Ser)
 dbSNP gnomAD v2
11g.22272901A>GCA379923873ANO5n.164A>G
c.1697A>G (p.Tyr566Cys)
c.2105A>G (p.Tyr702Cys)
n.3141A>G
c.2102A>G (p.Tyr701Cys)
c.2147A>G (p.Tyr716Cys)
n.2482A>G
c.2144A>G (p.Tyr715Cys)
c.2069A>G (p.Tyr690Cys)
c.2066A>G (p.Tyr689Cys)
c.2054A>G (p.Tyr685Cys)
 dbSNP gnomAD v4
11g.22272901A>TCA379923874ANO5n.164A>T
c.1697A>T (p.Tyr566Phe)
c.2105A>T (p.Tyr702Phe)
n.3141A>T
c.2102A>T (p.Tyr701Phe)
c.2147A>T (p.Tyr716Phe)
n.2482A>T
c.2144A>T (p.Tyr715Phe)
c.2069A>T (p.Tyr690Phe)
c.2066A>T (p.Tyr689Phe)
c.2054A>T (p.Tyr685Phe)
11g.22272902C>ACA379923875ANO5n.165C>A
c.1698C>A (p.Tyr566Ter)
c.2106C>A (p.Tyr702Ter)
n.3142C>A
c.2103C>A (p.Tyr701Ter)
c.2148C>A (p.Tyr716Ter)
n.2483C>A
c.2145C>A (p.Tyr715Ter)
c.2070C>A (p.Tyr690Ter)
c.2067C>A (p.Tyr689Ter)
c.2055C>A (p.Tyr685Ter)
11g.22272902C=CA1957402986ANO5n.165C=
c.1698C= (p.Tyr566=)
c.2106C= (p.Tyr702=)
n.3142C=
c.2103C= (p.Tyr701=)
c.2148C= (p.Tyr716=)
n.2483C=
c.2145C= (p.Tyr715=)
c.2070C= (p.Tyr690=)
c.2067C= (p.Tyr689=)
c.2055C= (p.Tyr685=)
11g.22272902C>GCA379923876ANO5n.165C>G
c.1698C>G (p.Tyr566Ter)
c.2106C>G (p.Tyr702Ter)
n.3142C>G
c.2103C>G (p.Tyr701Ter)
c.2148C>G (p.Tyr716Ter)
n.2483C>G
c.2145C>G (p.Tyr715Ter)
c.2070C>G (p.Tyr690Ter)
c.2067C>G (p.Tyr689Ter)
c.2055C>G (p.Tyr685Ter)
 gnomAD v4
11g.22272902C>TCA473407548ANO5n.165C>T
c.1698C>T (p.Tyr566=)
c.2106C>T (p.Tyr702=)
n.3142C>T
c.2103C>T (p.Tyr701=)
c.2148C>T (p.Tyr716=)
n.2483C>T
c.2145C>T (p.Tyr715=)
c.2070C>T (p.Tyr690=)
c.2067C>T (p.Tyr689=)
c.2055C>T (p.Tyr685=)
 ClinVar dbSNP
11g.22272903A=CA1957402988ANO5n.166A=
c.1699A= (p.Arg567=)
c.2107A= (p.Arg703=)
n.3143A=
c.2104A= (p.Arg702=)
c.2149A= (p.Arg717=)
n.2484A=
c.2146A= (p.Arg716=)
c.2071A= (p.Arg691=)
c.2068A= (p.Arg690=)
c.2056A= (p.Arg686=)
11g.22272903A>CCA473407549ANO5n.166A>C
c.1699A>C (p.Arg567=)
c.2107A>C (p.Arg703=)
n.3143A>C
c.2104A>C (p.Arg702=)
c.2149A>C (p.Arg717=)
n.2484A>C
c.2146A>C (p.Arg716=)
c.2071A>C (p.Arg691=)
c.2068A>C (p.Arg690=)
c.2056A>C (p.Arg686=)
 dbSNP gnomAD v3 gnomAD v4
11g.22272903A>GCA379923877ANO5n.166A>G
c.1699A>G (p.Arg567Gly)
c.2107A>G (p.Arg703Gly)
n.3143A>G
c.2104A>G (p.Arg702Gly)
c.2149A>G (p.Arg717Gly)
n.2484A>G
c.2146A>G (p.Arg716Gly)
c.2071A>G (p.Arg691Gly)
c.2068A>G (p.Arg690Gly)
c.2056A>G (p.Arg686Gly)
11g.22272903A>TCA379923878ANO5n.166A>T
c.1699A>T (p.Arg567Trp)
c.2107A>T (p.Arg703Trp)
n.3143A>T
c.2104A>T (p.Arg702Trp)
c.2149A>T (p.Arg717Trp)
n.2484A>T
c.2146A>T (p.Arg716Trp)
c.2071A>T (p.Arg691Trp)
c.2068A>T (p.Arg690Trp)
c.2056A>T (p.Arg686Trp)
11g.22272904G>ACA379923879ANO5n.167G>A
c.1700G>A (p.Arg567Lys)
c.2108G>A (p.Arg703Lys)
n.3144G>A
c.2105G>A (p.Arg702Lys)
c.2150G>A (p.Arg717Lys)
n.2485G>A
c.2147G>A (p.Arg716Lys)
c.2072G>A (p.Arg691Lys)
c.2069G>A (p.Arg690Lys)
c.2057G>A (p.Arg686Lys)
11g.22272904G>CCA379923880ANO5n.167G>C
c.1700G>C (p.Arg567Thr)
c.2108G>C (p.Arg703Thr)
n.3144G>C
c.2105G>C (p.Arg702Thr)
c.2150G>C (p.Arg717Thr)
n.2485G>C
c.2147G>C (p.Arg716Thr)
c.2072G>C (p.Arg691Thr)
c.2069G>C (p.Arg690Thr)
c.2057G>C (p.Arg686Thr)
11g.22272904G>TCA379923881ANO5n.167G>T
c.1700G>T (p.Arg567Met)
c.2108G>T (p.Arg703Met)
n.3144G>T
c.2105G>T (p.Arg702Met)
c.2150G>T (p.Arg717Met)
n.2485G>T
c.2147G>T (p.Arg716Met)
c.2072G>T (p.Arg691Met)
c.2069G>T (p.Arg690Met)
c.2057G>T (p.Arg686Met)
11g.22272905G>ACA473407550ANO5n.168G>A
c.1701G>A (p.Arg567=)
c.2109G>A (p.Arg703=)
n.3145G>A
c.2106G>A (p.Arg702=)
c.2151G>A (p.Arg717=)
n.2486G>A
c.2148G>A (p.Arg716=)
c.2073G>A (p.Arg691=)
c.2070G>A (p.Arg690=)
c.2058G>A (p.Arg686=)
11g.22272905G>CCA379923883ANO5n.168G>C
c.1701G>C (p.Arg567Ser)
c.2109G>C (p.Arg703Ser)
n.3145G>C
c.2106G>C (p.Arg702Ser)
c.2151G>C (p.Arg717Ser)
n.2486G>C
c.2148G>C (p.Arg716Ser)
c.2073G>C (p.Arg691Ser)
c.2070G>C (p.Arg690Ser)
c.2058G>C (p.Arg686Ser)
11g.22272905G>TCA379923882ANO5n.168G>T
c.1701G>T (p.Arg567Ser)
c.2109G>T (p.Arg703Ser)
n.3145G>T
c.2106G>T (p.Arg702Ser)
c.2151G>T (p.Arg717Ser)
n.2486G>T
c.2148G>T (p.Arg716Ser)
c.2073G>T (p.Arg691Ser)
c.2070G>T (p.Arg690Ser)
c.2058G>T (p.Arg686Ser)
11g.22272906A>CCA473407551ANO5n.169A>C
c.1702A>C (p.Arg568=)
c.2110A>C (p.Arg704=)
n.3146A>C
c.2107A>C (p.Arg703=)
c.2152A>C (p.Arg718=)
n.2487A>C
c.2149A>C (p.Arg717=)
c.2074A>C (p.Arg692=)
c.2071A>C (p.Arg691=)
c.2059A>C (p.Arg687=)
11g.22272906A>GCA379923884ANO5n.169A>G
c.1702A>G (p.Arg568Gly)
c.2110A>G (p.Arg704Gly)
n.3146A>G
c.2107A>G (p.Arg703Gly)
c.2152A>G (p.Arg718Gly)
n.2487A>G
c.2149A>G (p.Arg717Gly)
c.2074A>G (p.Arg692Gly)
c.2071A>G (p.Arg691Gly)
c.2059A>G (p.Arg687Gly)
11g.22272906A>TCA379923885ANO5n.169A>T
c.1702A>T (p.Arg568Ter)
c.2110A>T (p.Arg704Ter)
n.3146A>T
c.2107A>T (p.Arg703Ter)
c.2152A>T (p.Arg718Ter)
n.2487A>T
c.2149A>T (p.Arg717Ter)
c.2074A>T (p.Arg692Ter)
c.2071A>T (p.Arg691Ter)
c.2059A>T (p.Arg687Ter)
11g.22272907G>ACA379923886ANO5n.170G>A
c.1703G>A (p.Arg568Lys)
c.2111G>A (p.Arg704Lys)
n.3147G>A
c.2108G>A (p.Arg703Lys)
c.2153G>A (p.Arg718Lys)
n.2488G>A
c.2150G>A (p.Arg717Lys)
c.2075G>A (p.Arg692Lys)
c.2072G>A (p.Arg691Lys)
c.2060G>A (p.Arg687Lys)
 gnomAD v4
11g.22272907G>CCA379923887ANO5n.170G>C
c.1703G>C (p.Arg568Thr)
c.2111G>C (p.Arg704Thr)
n.3147G>C
c.2108G>C (p.Arg703Thr)
c.2153G>C (p.Arg718Thr)
n.2488G>C
c.2150G>C (p.Arg717Thr)
c.2075G>C (p.Arg692Thr)
c.2072G>C (p.Arg691Thr)
c.2060G>C (p.Arg687Thr)
11g.22272907G>TCA379923888ANO5n.170G>T
c.1703G>T (p.Arg568Ile)
c.2111G>T (p.Arg704Ile)
n.3147G>T
c.2108G>T (p.Arg703Ile)
c.2153G>T (p.Arg718Ile)
n.2488G>T
c.2150G>T (p.Arg717Ile)
c.2075G>T (p.Arg692Ile)
c.2072G>T (p.Arg691Ile)
c.2060G>T (p.Arg687Ile)
11g.22272908A>CCA379923889ANO5n.171A>C
c.1704A>C (p.Arg568Ser)
c.2112A>C (p.Arg704Ser)
n.3148A>C
c.2109A>C (p.Arg703Ser)
c.2154A>C (p.Arg718Ser)
n.2489A>C
c.2151A>C (p.Arg717Ser)
c.2076A>C (p.Arg692Ser)
c.2073A>C (p.Arg691Ser)
c.2061A>C (p.Arg687Ser)
11g.22272908A>GCA473407554ANO5n.171A>G
c.1704A>G (p.Arg568=)
c.2112A>G (p.Arg704=)
n.3148A>G
c.2109A>G (p.Arg703=)
c.2154A>G (p.Arg718=)
n.2489A>G
c.2151A>G (p.Arg717=)
c.2076A>G (p.Arg692=)
c.2073A>G (p.Arg691=)
c.2061A>G (p.Arg687=)
11g.22272908A>TCA379923890ANO5n.171A>T
c.1704A>T (p.Arg568Ser)
c.2112A>T (p.Arg704Ser)
n.3148A>T
c.2109A>T (p.Arg703Ser)
c.2154A>T (p.Arg718Ser)
n.2489A>T
c.2151A>T (p.Arg717Ser)
c.2076A>T (p.Arg692Ser)
c.2073A>T (p.Arg691Ser)
c.2061A>T (p.Arg687Ser)
11g.22272909A>CCA379923891ANO5n.172A>C
c.1705A>C (p.Thr569Pro)
c.2113A>C (p.Thr705Pro)
n.3149A>C
c.2110A>C (p.Thr704Pro)
c.2155A>C (p.Thr719Pro)
n.2490A>C
c.2152A>C (p.Thr718Pro)
c.2077A>C (p.Thr693Pro)
c.2074A>C (p.Thr692Pro)
c.2062A>C (p.Thr688Pro)
 COSMIC
11g.22272909A>GCA379923892ANO5n.172A>G
c.1705A>G (p.Thr569Ala)
c.2113A>G (p.Thr705Ala)
n.3149A>G
c.2110A>G (p.Thr704Ala)
c.2155A>G (p.Thr719Ala)
n.2490A>G
c.2152A>G (p.Thr718Ala)
c.2077A>G (p.Thr693Ala)
c.2074A>G (p.Thr692Ala)
c.2062A>G (p.Thr688Ala)
11g.22272909A>TCA379923893ANO5n.172A>T
c.1705A>T (p.Thr569Ser)
c.2113A>T (p.Thr705Ser)
n.3149A>T
c.2110A>T (p.Thr704Ser)
c.2155A>T (p.Thr719Ser)
n.2490A>T
c.2152A>T (p.Thr718Ser)
c.2077A>T (p.Thr693Ser)
c.2074A>T (p.Thr692Ser)
c.2062A>T (p.Thr688Ser)
11g.22272910C>ACA379923894ANO5n.173C>A
c.1706C>A (p.Thr569Asn)
c.2114C>A (p.Thr705Asn)
n.3150C>A
c.2111C>A (p.Thr704Asn)
c.2156C>A (p.Thr719Asn)
n.2491C>A
c.2153C>A (p.Thr718Asn)
c.2078C>A (p.Thr693Asn)
c.2075C>A (p.Thr692Asn)
c.2063C>A (p.Thr688Asn)
11g.22272910C=CA1957402995ANO5n.173C=
c.1706C= (p.Thr569=)
c.2114C= (p.Thr705=)
n.3150C=
c.2111C= (p.Thr704=)
c.2156C= (p.Thr719=)
n.2491C=
c.2153C= (p.Thr718=)
c.2078C= (p.Thr693=)
c.2075C= (p.Thr692=)
c.2063C= (p.Thr688=)
11g.22272910C>GCA379923895ANO5n.173C>G
c.1706C>G (p.Thr569Ser)
c.2114C>G (p.Thr705Ser)
n.3150C>G
c.2111C>G (p.Thr704Ser)
c.2156C>G (p.Thr719Ser)
n.2491C>G
c.2153C>G (p.Thr718Ser)
c.2078C>G (p.Thr693Ser)
c.2075C>G (p.Thr692Ser)
c.2063C>G (p.Thr688Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.22272910C>TCA379923896ANO5n.173C>T
c.1706C>T (p.Thr569Ile)
c.2114C>T (p.Thr705Ile)
n.3150C>T
c.2111C>T (p.Thr704Ile)
c.2156C>T (p.Thr719Ile)
n.2491C>T
c.2153C>T (p.Thr718Ile)
c.2078C>T (p.Thr693Ile)
c.2075C>T (p.Thr692Ile)
c.2063C>T (p.Thr688Ile)
11g.22272911delCA473407560ANO5n.174del
c.1707del (p.Val570Ter)
c.2115del (p.Val706Ter)
n.3151del
c.2112del (p.Val705Ter)
c.2157del (p.Val720Ter)
n.2492del
c.2154del (p.Val719Ter)
c.2079del (p.Val694Ter)
c.2076del (p.Val693Ter)
c.2064del (p.Val689Ter)
 COSMIC
11g.22272911T>ACA473407558ANO5n.174T>A
c.1707T>A (p.Thr569=)
c.2115T>A (p.Thr705=)
n.3151T>A
c.2112T>A (p.Thr704=)
c.2157T>A (p.Thr719=)
n.2492T>A
c.2154T>A (p.Thr718=)
c.2079T>A (p.Thr693=)
c.2076T>A (p.Thr692=)
c.2064T>A (p.Thr688=)
11g.22272911T>CCA473407559ANO5n.174T>C
c.1707T>C (p.Thr569=)
c.2115T>C (p.Thr705=)
n.3151T>C
c.2112T>C (p.Thr704=)
c.2157T>C (p.Thr719=)
n.2492T>C
c.2154T>C (p.Thr718=)
c.2079T>C (p.Thr693=)
c.2076T>C (p.Thr692=)
c.2064T>C (p.Thr688=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22272911T>GCA5923466ANO5n.174T>G
c.1707T>G (p.Thr569=)
c.2115T>G (p.Thr705=)
n.3151T>G
c.2112T>G (p.Thr704=)
c.2157T>G (p.Thr719=)
n.2492T>G
c.2154T>G (p.Thr718=)
c.2079T>G (p.Thr693=)
c.2076T>G (p.Thr692=)
c.2064T>G (p.Thr688=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272911T=CA1957403000ANO5n.174T=
c.1707T= (p.Thr569=)
c.2115T= (p.Thr705=)
n.3151T=
c.2112T= (p.Thr704=)
c.2157T= (p.Thr719=)
n.2492T=
c.2154T= (p.Thr718=)
c.2079T= (p.Thr693=)
c.2076T= (p.Thr692=)
c.2064T= (p.Thr688=)
11g.22272912G>ACA379923898ANO5n.175G>A
c.1708G>A (p.Val570Ile)
c.2116G>A (p.Val706Ile)
n.3152G>A
c.2113G>A (p.Val705Ile)
c.2158G>A (p.Val720Ile)
n.2493G>A
c.2155G>A (p.Val719Ile)
c.2080G>A (p.Val694Ile)
c.2077G>A (p.Val693Ile)
c.2065G>A (p.Val689Ile)
11g.22272912G>CCA5923467ANO5n.175G>C
c.1708G>C (p.Val570Leu)
c.2116G>C (p.Val706Leu)
n.3152G>C
c.2113G>C (p.Val705Leu)
c.2158G>C (p.Val720Leu)
n.2493G>C
c.2155G>C (p.Val719Leu)
c.2080G>C (p.Val694Leu)
c.2077G>C (p.Val693Leu)
c.2065G>C (p.Val689Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.22272912G=CA1957403003ANO5n.175G=
c.1708G= (p.Val570=)
c.2116G= (p.Val706=)
n.3152G=
c.2113G= (p.Val705=)
c.2158G= (p.Val720=)
n.2493G=
c.2155G= (p.Val719=)
c.2080G= (p.Val694=)
c.2077G= (p.Val693=)
c.2065G= (p.Val689=)
11g.22272912G>TCA379923897ANO5n.175G>T
c.1708G>T (p.Val570Leu)
c.2116G>T (p.Val706Leu)
n.3152G>T
c.2113G>T (p.Val705Leu)
c.2158G>T (p.Val720Leu)
n.2493G>T
c.2155G>T (p.Val719Leu)
c.2080G>T (p.Val694Leu)
c.2077G>T (p.Val693Leu)
c.2065G>T (p.Val689Leu)
11g.22272913T>ACA379923899ANO5n.176T>A
c.1709T>A (p.Val570Glu)
c.2117T>A (p.Val706Glu)
n.3153T>A
c.2114T>A (p.Val705Glu)
c.2159T>A (p.Val720Glu)
n.2494T>A
c.2156T>A (p.Val719Glu)
c.2081T>A (p.Val694Glu)
c.2078T>A (p.Val693Glu)
c.2066T>A (p.Val689Glu)
11g.22272913T>CCA379923901ANO5n.176T>C
c.1709T>C (p.Val570Ala)
c.2117T>C (p.Val706Ala)
n.3153T>C
c.2114T>C (p.Val705Ala)
c.2159T>C (p.Val720Ala)
n.2494T>C
c.2156T>C (p.Val719Ala)
c.2081T>C (p.Val694Ala)
c.2078T>C (p.Val693Ala)
c.2066T>C (p.Val689Ala)
11g.22272913T>GCA379923900ANO5n.176T>G
c.1709T>G (p.Val570Gly)
c.2117T>G (p.Val706Gly)
n.3153T>G
c.2114T>G (p.Val705Gly)
c.2159T>G (p.Val720Gly)
n.2494T>G
c.2156T>G (p.Val719Gly)
c.2081T>G (p.Val694Gly)
c.2078T>G (p.Val693Gly)
c.2066T>G (p.Val689Gly)
11g.22272914A=CA1957403007ANO5n.177A=
c.1710A= (p.Val570=)
c.2118A= (p.Val706=)
n.3154A=
c.2115A= (p.Val705=)
c.2160A= (p.Val720=)
n.2495A=
c.2157A= (p.Val719=)
c.2082A= (p.Val694=)
c.2079A= (p.Val693=)
c.2067A= (p.Val689=)
11g.22272914A>CCA473407566ANO5n.177A>C
c.1710A>C (p.Val570=)
c.2118A>C (p.Val706=)
n.3154A>C
c.2115A>C (p.Val705=)
c.2160A>C (p.Val720=)
n.2495A>C
c.2157A>C (p.Val719=)
c.2082A>C (p.Val694=)
c.2079A>C (p.Val693=)
c.2067A>C (p.Val689=)
11g.22272914A>GCA473407565ANO5n.177A>G
c.1710A>G (p.Val570=)
c.2118A>G (p.Val706=)
n.3154A>G
c.2115A>G (p.Val705=)
c.2160A>G (p.Val720=)
n.2495A>G
c.2157A>G (p.Val719=)
c.2082A>G (p.Val694=)
c.2079A>G (p.Val693=)
c.2067A>G (p.Val689=)
 dbSNP gnomAD v2 gnomAD v4
11g.22272914A>TCA473407562ANO5n.177A>T
c.1710A>T (p.Val570=)
c.2118A>T (p.Val706=)
n.3154A>T
c.2115A>T (p.Val705=)
c.2160A>T (p.Val720=)
n.2495A>T
c.2157A>T (p.Val719=)
c.2082A>T (p.Val694=)
c.2079A>T (p.Val693=)
c.2067A>T (p.Val689=)
11g.22272915G>ACA379923902ANO5n.178G>A
c.1711G>A (p.Ala571Thr)
c.2119G>A (p.Ala707Thr)
n.3155G>A
c.2116G>A (p.Ala706Thr)
c.2161G>A (p.Ala721Thr)
n.2496G>A
c.2158G>A (p.Ala720Thr)
c.2083G>A (p.Ala695Thr)
c.2080G>A (p.Ala694Thr)
c.2068G>A (p.Ala690Thr)
11g.22272915G>CCA379923904ANO5n.178G>C
c.1711G>C (p.Ala571Pro)
c.2119G>C (p.Ala707Pro)
n.3155G>C
c.2116G>C (p.Ala706Pro)
c.2161G>C (p.Ala721Pro)
n.2496G>C
c.2158G>C (p.Ala720Pro)
c.2083G>C (p.Ala695Pro)
c.2080G>C (p.Ala694Pro)
c.2068G>C (p.Ala690Pro)
 gnomAD v4 COSMIC
11g.22272915G>TCA379923903ANO5n.178G>T
c.1711G>T (p.Ala571Ser)
c.2119G>T (p.Ala707Ser)
n.3155G>T
c.2116G>T (p.Ala706Ser)
c.2161G>T (p.Ala721Ser)
n.2496G>T
c.2158G>T (p.Ala720Ser)
c.2083G>T (p.Ala695Ser)
c.2080G>T (p.Ala694Ser)
c.2068G>T (p.Ala690Ser)
11g.22272916C>ACA379923905ANO5n.179C>A
c.1712C>A (p.Ala571Asp)
c.2120C>A (p.Ala707Asp)
n.3156C>A
c.2117C>A (p.Ala706Asp)
c.2162C>A (p.Ala721Asp)
n.2497C>A
c.2159C>A (p.Ala720Asp)
c.2084C>A (p.Ala695Asp)
c.2081C>A (p.Ala694Asp)
c.2069C>A (p.Ala690Asp)
11g.22272916C>GCA379923907ANO5n.179C>G
c.1712C>G (p.Ala571Gly)
c.2120C>G (p.Ala707Gly)
n.3156C>G
c.2117C>G (p.Ala706Gly)
c.2162C>G (p.Ala721Gly)
n.2497C>G
c.2159C>G (p.Ala720Gly)
c.2084C>G (p.Ala695Gly)
c.2081C>G (p.Ala694Gly)
c.2069C>G (p.Ala690Gly)
11g.22272916C>TCA379923906ANO5n.179C>T
c.1712C>T (p.Ala571Val)
c.2120C>T (p.Ala707Val)
n.3156C>T
c.2117C>T (p.Ala706Val)
c.2162C>T (p.Ala721Val)
n.2497C>T
c.2159C>T (p.Ala720Val)
c.2084C>T (p.Ala695Val)
c.2081C>T (p.Ala694Val)
c.2069C>T (p.Ala690Val)
11g.22272917T>ACA473407569ANO5n.180T>A
c.1713T>A (p.Ala571=)
c.2121T>A (p.Ala707=)
n.3157T>A
c.2118T>A (p.Ala706=)
c.2163T>A (p.Ala721=)
n.2498T>A
c.2160T>A (p.Ala720=)
c.2085T>A (p.Ala695=)
c.2082T>A (p.Ala694=)
c.2070T>A (p.Ala690=)
11g.22272917T>CCA473407570ANO5n.180T>C
c.1713T>C (p.Ala571=)
c.2121T>C (p.Ala707=)
n.3157T>C
c.2118T>C (p.Ala706=)
c.2163T>C (p.Ala721=)
n.2498T>C
c.2160T>C (p.Ala720=)
c.2085T>C (p.Ala695=)
c.2082T>C (p.Ala694=)
c.2070T>C (p.Ala690=)
11g.22272917T>GCA473407571ANO5n.180T>G
c.1713T>G (p.Ala571=)
c.2121T>G (p.Ala707=)
n.3157T>G
c.2118T>G (p.Ala706=)
c.2163T>G (p.Ala721=)
n.2498T>G
c.2160T>G (p.Ala720=)
c.2085T>G (p.Ala695=)
c.2082T>G (p.Ala694=)
c.2070T>G (p.Ala690=)
11g.22272918T>ACA379923908ANO5n.181T>A
c.1714T>A (p.Ser572Thr)
c.2122T>A (p.Ser708Thr)
n.3158T>A
c.2119T>A (p.Ser707Thr)
c.2164T>A (p.Ser722Thr)
n.2499T>A
c.2161T>A (p.Ser721Thr)
c.2086T>A (p.Ser696Thr)
c.2083T>A (p.Ser695Thr)
c.2071T>A (p.Ser691Thr)
11g.22272918T>CCA379923909ANO5n.181T>C
c.1714T>C (p.Ser572Pro)
c.2122T>C (p.Ser708Pro)
n.3158T>C
c.2119T>C (p.Ser707Pro)
c.2164T>C (p.Ser722Pro)
n.2499T>C
c.2161T>C (p.Ser721Pro)
c.2086T>C (p.Ser696Pro)
c.2083T>C (p.Ser695Pro)
c.2071T>C (p.Ser691Pro)
11g.22272918T>GCA379923910ANO5n.181T>G
c.1714T>G (p.Ser572Ala)
c.2122T>G (p.Ser708Ala)
n.3158T>G
c.2119T>G (p.Ser707Ala)
c.2164T>G (p.Ser722Ala)
n.2499T>G
c.2161T>G (p.Ser721Ala)
c.2086T>G (p.Ser696Ala)
c.2083T>G (p.Ser695Ala)
c.2071T>G (p.Ser691Ala)
 gnomAD v4
11g.22272919C>ACA379923911ANO5n.182C>A
c.1715C>A (p.Ser572Tyr)
c.2123C>A (p.Ser708Tyr)
n.3159C>A
c.2120C>A (p.Ser707Tyr)
c.2165C>A (p.Ser722Tyr)
n.2500C>A
c.2162C>A (p.Ser721Tyr)
c.2087C>A (p.Ser696Tyr)
c.2084C>A (p.Ser695Tyr)
c.2072C>A (p.Ser691Tyr)
11g.22272919C>GCA379923912ANO5n.182C>G
c.1715C>G (p.Ser572Cys)
c.2123C>G (p.Ser708Cys)
n.3159C>G
c.2120C>G (p.Ser707Cys)
c.2165C>G (p.Ser722Cys)
n.2500C>G
c.2162C>G (p.Ser721Cys)
c.2087C>G (p.Ser696Cys)
c.2084C>G (p.Ser695Cys)
c.2072C>G (p.Ser691Cys)
11g.22272919C>TCA379923913ANO5n.182C>T
c.1715C>T (p.Ser572Phe)
c.2123C>T (p.Ser708Phe)
n.3159C>T
c.2120C>T (p.Ser707Phe)
c.2165C>T (p.Ser722Phe)
n.2500C>T
c.2162C>T (p.Ser721Phe)
c.2087C>T (p.Ser696Phe)
c.2084C>T (p.Ser695Phe)
c.2072C>T (p.Ser691Phe)
11g.22272920T>ACA473407577ANO5n.183T>A
c.1716T>A (p.Ser572=)
c.2124T>A (p.Ser708=)
n.3160T>A
c.2121T>A (p.Ser707=)
c.2166T>A (p.Ser722=)
n.2501T>A
c.2163T>A (p.Ser721=)
c.2088T>A (p.Ser696=)
c.2085T>A (p.Ser695=)
c.2073T>A (p.Ser691=)
11g.22272920T>CCA473407575ANO5n.183T>C
c.1716T>C (p.Ser572=)
c.2124T>C (p.Ser708=)
n.3160T>C
c.2121T>C (p.Ser707=)
c.2166T>C (p.Ser722=)
n.2501T>C
c.2163T>C (p.Ser721=)
c.2088T>C (p.Ser696=)
c.2085T>C (p.Ser695=)
c.2073T>C (p.Ser691=)
11g.22272920T>GCA473407576ANO5n.183T>G
c.1716T>G (p.Ser572=)
c.2124T>G (p.Ser708=)
n.3160T>G
c.2121T>G (p.Ser707=)
c.2166T>G (p.Ser722=)
n.2501T>G
c.2163T>G (p.Ser721=)
c.2088T>G (p.Ser696=)
c.2085T>G (p.Ser695=)
c.2073T>G (p.Ser691=)
11g.22272921A>CCA379923914ANO5n.184A>C
c.1717A>C (p.Lys573Gln)
c.2125A>C (p.Lys709Gln)
n.3161A>C
c.2122A>C (p.Lys708Gln)
c.2167A>C (p.Lys723Gln)
n.2502A>C
c.2164A>C (p.Lys722Gln)
c.2089A>C (p.Lys697Gln)
c.2086A>C (p.Lys696Gln)
c.2074A>C (p.Lys692Gln)
11g.22272921A>GCA379923915ANO5n.184A>G
c.1717A>G (p.Lys573Glu)
c.2125A>G (p.Lys709Glu)
n.3161A>G
c.2122A>G (p.Lys708Glu)
c.2167A>G (p.Lys723Glu)
n.2502A>G
c.2164A>G (p.Lys722Glu)
c.2089A>G (p.Lys697Glu)
c.2086A>G (p.Lys696Glu)
c.2074A>G (p.Lys692Glu)
11g.22272921A>TCA379923916ANO5n.184A>T
c.1717A>T (p.Lys573Ter)
c.2125A>T (p.Lys709Ter)
n.3161A>T
c.2122A>T (p.Lys708Ter)
c.2167A>T (p.Lys723Ter)
n.2502A>T
c.2164A>T (p.Lys722Ter)
c.2089A>T (p.Lys697Ter)
c.2086A>T (p.Lys696Ter)
c.2074A>T (p.Lys692Ter)
11g.22272922A=CA1957403034ANO5n.185A=
c.1718A= (p.Lys573=)
c.2126A= (p.Lys709=)
n.3162A=
c.2123A= (p.Lys708=)
c.2168A= (p.Lys723=)
n.2503A=
c.2165A= (p.Lys722=)
c.2090A= (p.Lys697=)
c.2087A= (p.Lys696=)
c.2075A= (p.Lys692=)
11g.22272922A>CCA379923919ANO5n.185A>C
c.1718A>C (p.Lys573Thr)
c.2126A>C (p.Lys709Thr)
n.3162A>C
c.2123A>C (p.Lys708Thr)
c.2168A>C (p.Lys723Thr)
n.2503A>C
c.2165A>C (p.Lys722Thr)
c.2090A>C (p.Lys697Thr)
c.2087A>C (p.Lys696Thr)
c.2075A>C (p.Lys692Thr)
 dbSNP
11g.22272922A>GCA379923918ANO5n.185A>G
c.1718A>G (p.Lys573Arg)
c.2126A>G (p.Lys709Arg)
n.3162A>G
c.2123A>G (p.Lys708Arg)
c.2168A>G (p.Lys723Arg)
n.2503A>G
c.2165A>G (p.Lys722Arg)
c.2090A>G (p.Lys697Arg)
c.2087A>G (p.Lys696Arg)
c.2075A>G (p.Lys692Arg)
 gnomAD v4
11g.22272922A>TCA379923917ANO5n.185A>T
c.1718A>T (p.Lys573Ile)
c.2126A>T (p.Lys709Ile)
n.3162A>T
c.2123A>T (p.Lys708Ile)
c.2168A>T (p.Lys723Ile)
n.2503A>T
c.2165A>T (p.Lys722Ile)
c.2090A>T (p.Lys697Ile)
c.2087A>T (p.Lys696Ile)
c.2075A>T (p.Lys692Ile)
11g.22272922_22272929delinsAAGCTCATCA1957403012ANO5n.185_192delinsAAGCTCAT
c.1718_1725delinsAAGCTCAT (p.Lys573=)
c.2126_2133delinsAAGCTCAT (p.Lys709=)
n.3162_3169delinsAAGCTCAT
c.2123_2130delinsAAGCTCAT (p.Lys708=)
c.2168_2175delinsAAGCTCAT (p.Lys723=)
n.2503_2510delinsAAGCTCAT
c.2165_2172delinsAAGCTCAT (p.Lys722=)
c.2090_2097delinsAAGCTCAT (p.Lys697=)
c.2087_2094delinsAAGCTCAT (p.Lys696=)
c.2075_2082delinsAAGCTCAT (p.Lys692=)
11g.22272923A>CCA379923920ANO5n.186A>C
c.1719A>C (p.Lys573Asn)
c.2127A>C (p.Lys709Asn)
n.3163A>C
c.2124A>C (p.Lys708Asn)
c.2169A>C (p.Lys723Asn)
n.2504A>C
c.2166A>C (p.Lys722Asn)
c.2091A>C (p.Lys697Asn)
c.2088A>C (p.Lys696Asn)
c.2076A>C (p.Lys692Asn)
11g.22272923A>GCA473407582ANO5n.186A>G
c.1719A>G (p.Lys573=)
c.2127A>G (p.Lys709=)
n.3163A>G
c.2124A>G (p.Lys708=)
c.2169A>G (p.Lys723=)
n.2504A>G
c.2166A>G (p.Lys722=)
c.2091A>G (p.Lys697=)
c.2088A>G (p.Lys696=)
c.2076A>G (p.Lys692=)
11g.22272923A>TCA379923921ANO5n.186A>T
c.1719A>T (p.Lys573Asn)
c.2127A>T (p.Lys709Asn)
n.3163A>T
c.2124A>T (p.Lys708Asn)
c.2169A>T (p.Lys723Asn)
n.2504A>T
c.2166A>T (p.Lys722Asn)
c.2091A>T (p.Lys697Asn)
c.2088A>T (p.Lys696Asn)
c.2076A>T (p.Lys692Asn)
11g.22272926_22272932delCA201498ANO5n.189_195del
c.1722_1728del (p.His575Ter)
c.2130_2136del (p.His711Ter)
n.3166_3172del
c.2127_2133del (p.His710Ter)
c.2172_2178del (p.His725Ter)
n.2507_2513del
c.2169_2175del (p.His724Ter)
c.2094_2100del (p.His699Ter)
c.2091_2097del (p.His698Ter)
c.2079_2085del (p.His694Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.22272924G>ACA379923922ANO5n.187G>A
c.1720G>A (p.Ala574Thr)
c.2128G>A (p.Ala710Thr)
n.3164G>A
c.2125G>A (p.Ala709Thr)
c.2170G>A (p.Ala724Thr)
n.2505G>A
c.2167G>A (p.Ala723Thr)
c.2092G>A (p.Ala698Thr)
c.2089G>A (p.Ala697Thr)
c.2077G>A (p.Ala693Thr)
 ClinVar gnomAD v4
11g.22272924G>CCA379923923ANO5n.187G>C
c.1720G>C (p.Ala574Pro)
c.2128G>C (p.Ala710Pro)
n.3164G>C
c.2125G>C (p.Ala709Pro)
c.2170G>C (p.Ala724Pro)
n.2505G>C
c.2167G>C (p.Ala723Pro)
c.2092G>C (p.Ala698Pro)
c.2089G>C (p.Ala697Pro)
c.2077G>C (p.Ala693Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22272924G=CA1957403045ANO5n.187G=
c.1720G= (p.Ala574=)
c.2128G= (p.Ala710=)
n.3164G=
c.2125G= (p.Ala709=)
c.2170G= (p.Ala724=)
n.2505G=
c.2167G= (p.Ala723=)
c.2092G= (p.Ala698=)
c.2089G= (p.Ala697=)
c.2077G= (p.Ala693=)
11g.22272924G>TCA379923924ANO5n.187G>T
c.1720G>T (p.Ala574Ser)
c.2128G>T (p.Ala710Ser)
n.3164G>T
c.2125G>T (p.Ala709Ser)
c.2170G>T (p.Ala724Ser)
n.2505G>T
c.2167G>T (p.Ala723Ser)
c.2092G>T (p.Ala698Ser)
c.2089G>T (p.Ala697Ser)
c.2077G>T (p.Ala693Ser)
11g.22272925C>ACA379923925ANO5n.188C>A
c.1721C>A (p.Ala574Asp)
c.2129C>A (p.Ala710Asp)
n.3165C>A
c.2126C>A (p.Ala709Asp)
c.2171C>A (p.Ala724Asp)
n.2506C>A
c.2168C>A (p.Ala723Asp)
c.2093C>A (p.Ala698Asp)
c.2090C>A (p.Ala697Asp)
c.2078C>A (p.Ala693Asp)
11g.22272925C>GCA379923926ANO5n.188C>G
c.1721C>G (p.Ala574Gly)
c.2129C>G (p.Ala710Gly)
n.3165C>G
c.2126C>G (p.Ala709Gly)
c.2171C>G (p.Ala724Gly)
n.2506C>G
c.2168C>G (p.Ala723Gly)
c.2093C>G (p.Ala698Gly)
c.2090C>G (p.Ala697Gly)
c.2078C>G (p.Ala693Gly)
11g.22272925C>TCA379923927ANO5n.188C>T
c.1721C>T (p.Ala574Val)
c.2129C>T (p.Ala710Val)
n.3165C>T
c.2126C>T (p.Ala709Val)
c.2171C>T (p.Ala724Val)
n.2506C>T
c.2168C>T (p.Ala723Val)
c.2093C>T (p.Ala698Val)
c.2090C>T (p.Ala697Val)
c.2078C>T (p.Ala693Val)
11g.22272926T>ACA473407588ANO5n.189T>A
c.1722T>A (p.Ala574=)
c.2130T>A (p.Ala710=)
n.3166T>A
c.2127T>A (p.Ala709=)
c.2172T>A (p.Ala724=)
n.2507T>A
c.2169T>A (p.Ala723=)
c.2094T>A (p.Ala698=)
c.2091T>A (p.Ala697=)
c.2079T>A (p.Ala693=)
11g.22272926T>CCA473407590ANO5n.189T>C
c.1722T>C (p.Ala574=)
c.2130T>C (p.Ala710=)
n.3166T>C
c.2127T>C (p.Ala709=)
c.2172T>C (p.Ala724=)
n.2507T>C
c.2169T>C (p.Ala723=)
c.2094T>C (p.Ala698=)
c.2091T>C (p.Ala697=)
c.2079T>C (p.Ala693=)
11g.22272926T>GCA473407591ANO5n.189T>G
c.1722T>G (p.Ala574=)
c.2130T>G (p.Ala710=)
n.3166T>G
c.2127T>G (p.Ala709=)
c.2172T>G (p.Ala724=)
n.2507T>G
c.2169T>G (p.Ala723=)
c.2094T>G (p.Ala698=)
c.2091T>G (p.Ala697=)
c.2079T>G (p.Ala693=)
11g.22272926T=CA1957403048ANO5n.189T=
c.1722T= (p.Ala574=)
c.2130T= (p.Ala710=)
n.3166T=
c.2127T= (p.Ala709=)
c.2172T= (p.Ala724=)
n.2507T=
c.2169T= (p.Ala723=)
c.2094T= (p.Ala698=)
c.2091T= (p.Ala697=)
c.2079T= (p.Ala693=)
11g.22272927C>ACA379923929ANO5n.190C>A
c.1723C>A (p.His575Asn)
c.2131C>A (p.His711Asn)
n.3167C>A
c.2128C>A (p.His710Asn)
c.2173C>A (p.His725Asn)
n.2508C>A
c.2170C>A (p.His724Asn)
c.2095C>A (p.His699Asn)
c.2092C>A (p.His698Asn)
c.2080C>A (p.His694Asn)
 ClinVar
11g.22272927C>GCA379923930ANO5n.190C>G
c.1723C>G (p.His575Asp)
c.2131C>G (p.His711Asp)
n.3167C>G
c.2128C>G (p.His710Asp)
c.2173C>G (p.His725Asp)
n.2508C>G
c.2170C>G (p.His724Asp)
c.2095C>G (p.His699Asp)
c.2092C>G (p.His698Asp)
c.2080C>G (p.His694Asp)
11g.22272927C>TCA379923928ANO5n.190C>T
c.1723C>T (p.His575Tyr)
c.2131C>T (p.His711Tyr)
n.3167C>T
c.2128C>T (p.His710Tyr)
c.2173C>T (p.His725Tyr)
n.2508C>T
c.2170C>T (p.His724Tyr)
c.2095C>T (p.His699Tyr)
c.2092C>T (p.His698Tyr)
c.2080C>T (p.His694Tyr)
11g.22272927_22272928dupCA674655011ANO5n.190_191dup
c.1723_1724dup (p.Ser576IlefsTer3)
c.2131_2132dup (p.Ser712IlefsTer3)
n.3167_3168dup
c.2128_2129dup (p.Ser711IlefsTer3)
c.2173_2174dup (p.Ser726IlefsTer3)
n.2508_2509dup
c.2170_2171dup (p.Ser725IlefsTer3)
c.2095_2096dup (p.Ser700IlefsTer3)
c.2092_2093dup (p.Ser699IlefsTer3)
c.2080_2081dup (p.Ser695IlefsTer3)
 dbSNP gnomAD v4
11g.22272928A=CA1957403059ANO5n.191A=
c.1724A= (p.His575=)
c.2132A= (p.His711=)
n.3168A=
c.2129A= (p.His710=)
c.2174A= (p.His725=)
n.2509A=
c.2171A= (p.His724=)
c.2096A= (p.His699=)
c.2093A= (p.His698=)
c.2081A= (p.His694=)
11g.22272928A>CCA379923931ANO5n.191A>C
c.1724A>C (p.His575Pro)
c.2132A>C (p.His711Pro)
n.3168A>C
c.2129A>C (p.His710Pro)
c.2174A>C (p.His725Pro)
n.2509A>C
c.2171A>C (p.His724Pro)
c.2096A>C (p.His699Pro)
c.2093A>C (p.His698Pro)
c.2081A>C (p.His694Pro)
11g.22272928A>GCA379923932ANO5n.191A>G
c.1724A>G (p.His575Arg)
c.2132A>G (p.His711Arg)
n.3168A>G
c.2129A>G (p.His710Arg)
c.2174A>G (p.His725Arg)
n.2509A>G
c.2171A>G (p.His724Arg)
c.2096A>G (p.His699Arg)
c.2093A>G (p.His698Arg)
c.2081A>G (p.His694Arg)
 dbSNP
11g.22272928A>TCA379923933ANO5n.191A>T
c.1724A>T (p.His575Leu)
c.2132A>T (p.His711Leu)
n.3168A>T
c.2129A>T (p.His710Leu)
c.2174A>T (p.His725Leu)
n.2509A>T
c.2171A>T (p.His724Leu)
c.2096A>T (p.His699Leu)
c.2093A>T (p.His698Leu)
c.2081A>T (p.His694Leu)
11g.22272929T>ACA379923934ANO5n.192T>A
c.1725T>A (p.His575Gln)
c.2133T>A (p.His711Gln)
n.3169T>A
c.2130T>A (p.His710Gln)
c.2175T>A (p.His725Gln)
n.2510T>A
c.2172T>A (p.His724Gln)
c.2097T>A (p.His699Gln)
c.2094T>A (p.His698Gln)
c.2082T>A (p.His694Gln)
11g.22272929T>CCA16606911ANO5n.192T>C
c.1725T>C (p.His575=)
c.2133T>C (p.His711=)
n.3169T>C
c.2130T>C (p.His710=)
c.2175T>C (p.His725=)
n.2510T>C
c.2172T>C (p.His724=)
c.2097T>C (p.His699=)
c.2094T>C (p.His698=)
c.2082T>C (p.His694=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.22272929T>GCA379923935ANO5n.192T>G
c.1725T>G (p.His575Gln)
c.2133T>G (p.His711Gln)
n.3169T>G
c.2130T>G (p.His710Gln)
c.2175T>G (p.His725Gln)
n.2510T>G
c.2172T>G (p.His724Gln)
c.2097T>G (p.His699Gln)
c.2094T>G (p.His698Gln)
c.2082T>G (p.His694Gln)
11g.22272929T=CA1957403062ANO5n.192T=
c.1725T= (p.His575=)
c.2133T= (p.His711=)
n.3169T=
c.2130T= (p.His710=)
c.2175T= (p.His725=)
n.2510T=
c.2172T= (p.His724=)
c.2097T= (p.His699=)
c.2094T= (p.His698=)
c.2082T= (p.His694=)

Number of alleles fetched