Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22272826C>ACA379923685ANO5n.89C>A
c.1622C>A (p.Pro541His)
c.2030C>A (p.Pro677His)
n.3066C>A
c.2027C>A (p.Pro676His)
c.2072C>A (p.Pro691His)
n.2407C>A
c.2069C>A (p.Pro690His)
c.1994C>A (p.Pro665His)
c.1991C>A (p.Pro664His)
c.1979C>A (p.Pro660His)
 COSMIC
11g.22272826C>GCA379923687ANO5n.89C>G
c.1622C>G (p.Pro541Arg)
c.2030C>G (p.Pro677Arg)
n.3066C>G
c.2027C>G (p.Pro676Arg)
c.2072C>G (p.Pro691Arg)
n.2407C>G
c.2069C>G (p.Pro690Arg)
c.1994C>G (p.Pro665Arg)
c.1991C>G (p.Pro664Arg)
c.1979C>G (p.Pro660Arg)
11g.22272826C>TCA379923688ANO5n.89C>T
c.1622C>T (p.Pro541Leu)
c.2030C>T (p.Pro677Leu)
n.3066C>T
c.2027C>T (p.Pro676Leu)
c.2072C>T (p.Pro691Leu)
n.2407C>T
c.2069C>T (p.Pro690Leu)
c.1994C>T (p.Pro665Leu)
c.1991C>T (p.Pro664Leu)
c.1979C>T (p.Pro660Leu)
11g.22272827T>ACA473407497ANO5n.90T>A
c.1623T>A (p.Pro541=)
c.2031T>A (p.Pro677=)
n.3067T>A
c.2028T>A (p.Pro676=)
c.2073T>A (p.Pro691=)
n.2408T>A
c.2070T>A (p.Pro690=)
c.1995T>A (p.Pro665=)
c.1992T>A (p.Pro664=)
c.1980T>A (p.Pro660=)
11g.22272827T>CCA5923453ANO5n.90T>C
c.1623T>C (p.Pro541=)
c.2031T>C (p.Pro677=)
n.3067T>C
c.2028T>C (p.Pro676=)
c.2073T>C (p.Pro691=)
n.2408T>C
c.2070T>C (p.Pro690=)
c.1995T>C (p.Pro665=)
c.1992T>C (p.Pro664=)
c.1980T>C (p.Pro660=)
 dbSNP ExAC gnomAD v2
11g.22272827T>GCA473407496ANO5n.90T>G
c.1623T>G (p.Pro541=)
c.2031T>G (p.Pro677=)
n.3067T>G
c.2028T>G (p.Pro676=)
c.2073T>G (p.Pro691=)
n.2408T>G
c.2070T>G (p.Pro690=)
c.1995T>G (p.Pro665=)
c.1992T>G (p.Pro664=)
c.1980T>G (p.Pro660=)
11g.22272827T=CA1957402770ANO5n.90T=
c.1623T= (p.Pro541=)
c.2031T= (p.Pro677=)
n.3067T=
c.2028T= (p.Pro676=)
c.2073T= (p.Pro691=)
n.2408T=
c.2070T= (p.Pro690=)
c.1995T= (p.Pro665=)
c.1992T= (p.Pro664=)
c.1980T= (p.Pro660=)
11g.22272828T>ACA379923691ANO5n.91T>A
c.1624T>A (p.Leu542Met)
c.2032T>A (p.Leu678Met)
n.3068T>A
c.2029T>A (p.Leu677Met)
c.2074T>A (p.Leu692Met)
n.2409T>A
c.2071T>A (p.Leu691Met)
c.1996T>A (p.Leu666Met)
c.1993T>A (p.Leu665Met)
c.1981T>A (p.Leu661Met)
11g.22272828T>CCA473407498ANO5n.91T>C
c.1624T>C (p.Leu542=)
c.2032T>C (p.Leu678=)
n.3068T>C
c.2029T>C (p.Leu677=)
c.2074T>C (p.Leu692=)
n.2409T>C
c.2071T>C (p.Leu691=)
c.1996T>C (p.Leu666=)
c.1993T>C (p.Leu665=)
c.1981T>C (p.Leu661=)
11g.22272828T>GCA379923692ANO5n.91T>G
c.1624T>G (p.Leu542Val)
c.2032T>G (p.Leu678Val)
n.3068T>G
c.2029T>G (p.Leu677Val)
c.2074T>G (p.Leu692Val)
n.2409T>G
c.2071T>G (p.Leu691Val)
c.1996T>G (p.Leu666Val)
c.1993T>G (p.Leu665Val)
c.1981T>G (p.Leu661Val)
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

Number of alleles fetched