Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.22272828T>A | CA379923691 | ANO5 | n.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) | |
11 | g.22272828T>C | CA473407498 | ANO5 | n.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=) | |
11 | g.22272828T>G | CA379923692 | ANO5 | n.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) | |
11 | g.22272829T>A | CA379923694 | ANO5 | n.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) | |
11 | g.22272829T>C | CA379923695 | ANO5 | n.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 |
11 | g.22272829T>G | CA379923697 | ANO5 | n.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) | |
11 | g.22272830G>A | CA473407499 | ANO5 | n.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 |
11 | g.22272830G>C | CA379923699 | ANO5 | n.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) | |
11 | g.22272830G= | CA1957402775 | ANO5 | n.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=) | |
11 | g.22272830G>T | CA379923700 | ANO5 | n.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) | |
11 | g.22272831G>A | CA379923702 | ANO5 | n.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) | |
11 | g.22272831G>C | CA379923706 | ANO5 | n.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 |
11 | g.22272831G= | CA1957402780 | ANO5 | n.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=) | |
11 | g.22272831G>T | CA379923704 | ANO5 | n.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) | |
11 | g.22272832C>A | CA379923707 | ANO5 | n.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) | |
11 | g.22272832C>G | CA379923711 | ANO5 | n.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) | |
11 | g.22272832C>T | CA379923709 | ANO5 | n.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) | |
11 | g.22272833T>A | CA473407500 | ANO5 | n.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=) | |
11 | g.22272833T>C | CA473407501 | ANO5 | n.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 |
11 | g.22272833T>G | CA473407502 | ANO5 | n.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=) | |
11 | g.22272834C>A | CA379923713 | ANO5 | n.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 |
11 | g.22272834C= | CA1957402791 | ANO5 | n.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=) | |
11 | g.22272834C>G | CA379923714 | ANO5 | n.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) | |
11 | g.22272834C>T | CA10604433 | ANO5 | n.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 |
11 | g.22272835C>A | CA379923716 | ANO5 | n.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) | |
11 | g.22272835C>G | CA379923718 | ANO5 | n.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) | |
11 | g.22272835C>T | CA379923720 | ANO5 | n.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) | |
11 | g.22272836T>A | CA473407503 | ANO5 | n.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=) | |
11 | g.22272836T>C | CA473407504 | ANO5 | n.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=) | |
11 | g.22272836T>G | CA473407505 | ANO5 | n.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 |
11 | g.22272836T= | CA1957402801 | ANO5 | n.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=) | |
11 | g.22272837C>A | CA379923721 | ANO5 | n.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) | |
11 | g.22272837C>G | CA379923723 | ANO5 | n.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) | |
11 | g.22272837C>T | CA379923724 | ANO5 | n.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 |
11 | g.22272838T>A | CA379923726 | ANO5 | n.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) | |
11 | g.22272838T>C | CA379923728 | ANO5 | n.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) | |
11 | g.22272838T>G | CA379923729 | ANO5 | n.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) | |
11 | g.22272839T>A | CA473407506 | ANO5 | n.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 |
11 | g.22272839T>C | CA473407507 | ANO5 | n.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 |
11 | g.22272839T>G | CA473407508 | ANO5 | n.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=) | |
11 | g.22272839T= | CA1957402803 | ANO5 | n.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=) | |
11 | g.22272840C>A | CA379923730 | ANO5 | n.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) | |
11 | g.22272840C>G | CA379923733 | ANO5 | n.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 |
11 | g.22272840C>T | CA379923732 | ANO5 | n.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 |
11 | g.22272841T>A | CA379923734 | ANO5 | n.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 |
11 | g.22272841T>C | CA218775800 | ANO5 | n.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 |
11 | g.22272841T>G | CA379923736 | ANO5 | n.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) | |
11 | g.22272841T= | CA1957402810 | ANO5 | n.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=) | |
11 | g.22272842T>A | CA473407509 | ANO5 | n.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=) | |
11 | g.22272842T>C | CA5923454 | ANO5 | n.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 |
11 | g.22272842T>G | CA473407510 | ANO5 | n.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=) | |
11 | g.22272842T= | CA1957402818 | ANO5 | n.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=) | |
11 | g.22272843G>A | CA379923739 | ANO5 | n.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 |
11 | g.22272843G>C | CA379923740 | ANO5 | n.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) | |
11 | g.22272843G= | CA1957402852 | ANO5 | n.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=) | |
11 | g.22272843G>T | CA379923741 | ANO5 | n.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) | |
11 | g.22272844C>A | CA379923743 | ANO5 | n.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) | |
11 | g.22272844C>G | CA379923745 | ANO5 | n.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) | |
11 | g.22272844C>T | CA379923746 | ANO5 | n.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) | |
11 | g.22272845T>A | CA473407511 | ANO5 | n.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=) | |
11 | g.22272845T>C | CA473407513 | ANO5 | n.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=) | |
11 | g.22272845T>G | CA473407512 | ANO5 | n.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 |
11 | g.22272845T= | CA1957402855 | ANO5 | n.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=) | |
11 | g.22272846C>A | CA379923749 | ANO5 | n.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) | |
11 | g.22272846C>G | CA379923751 | ANO5 | n.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) | |
11 | g.22272846C>T | CA379923748 | ANO5 | n.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 |
11 | g.22272847T>A | CA379923752 | ANO5 | n.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) | |
11 | g.22272847T>C | CA379923754 | ANO5 | n.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 |
11 | g.22272847T>G | CA379923756 | ANO5 | n.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) | |
11 | g.22272848C>A | CA473407514 | ANO5 | n.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=) | |
11 | g.22272848C= | CA1957402860 | ANO5 | n.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=) | |
11 | g.22272848C>G | CA473407515 | ANO5 | n.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=) | |
11 | g.22272848C>T | CA473407516 | ANO5 | n.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=) | |
11 | g.22272849A>C | CA379923757 | ANO5 | n.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) | |
11 | g.22272849A>G | CA379923758 | ANO5 | n.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 |
11 | g.22272849A>T | CA379923760 | ANO5 | n.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) | |
11 | g.22272853_22272856dup | CA674654781 | ANO5 | n.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 |
11 | g.22272853_22272856del | CA2790698856 | ANO5 | n.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) | |
11 | g.22272850T>A | CA379923762 | ANO5 | n.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) | |
11 | g.22272850T>C | CA5923455 | ANO5 | n.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 |
11 | g.22272850T>G | CA379923764 | ANO5 | n.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) | |
11 | g.22272850T= | CA1957402875 | ANO5 | n.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=) | |
11 | g.22272851A>C | CA473407518 | ANO5 | n.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=) | |
11 | g.22272851A>G | CA379923766 | ANO5 | n.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) | |
11 | g.22272851A>T | CA473407517 | ANO5 | n.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=) | |
11 | g.22272851_22272853del | CA2612837250 | ANO5 | n.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 |
11 | g.22272852A>C | CA379923767 | ANO5 | n.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) | |
11 | g.22272852A>G | CA379923769 | ANO5 | n.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) | |
11 | g.22272852A>T | CA379923770 | ANO5 | n.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) | |
11 | g.22272856_22272858del | CA2695213374 | ANO5 | n.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) | |
11 | g.22272853A= | CA1957402879 | ANO5 | n.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=) | |
11 | g.22272853A>C | CA379923772 | ANO5 | n.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) | |
11 | g.22272853A>G | CA218775809 | ANO5 | n.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 |
11 | g.22272853A>T | CA379923771 | ANO5 | n.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) | |
11 | g.22272854T>A | CA379923773 | ANO5 | n.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) | |
11 | g.22272854T>C | CA473407519 | ANO5 | n.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 |
11 | g.22272854T>G | CA379923774 | ANO5 | n.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) | |
11 | g.22272855A= | CA1957402884 | ANO5 | n.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=) | |
11 | g.22272855A>C | CA379923775 | ANO5 | n.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 |
11 | g.22272855A>G | CA218775814 | ANO5 | n.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 |
11 | g.22272855A>T | CA379923776 | ANO5 | n.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) | |
11 | g.22272856A= | CA1957402886 | ANO5 | n.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=) | |
11 | g.22272856A>C | CA379923777 | ANO5 | n.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) | |
11 | g.22272856A>G | CA5923456 | ANO5 | n.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 |
11 | g.22272856A>T | CA379923778 | ANO5 | n.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) | |
11 | g.22272857T>A | CA379923779 | ANO5 | n.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) | |
11 | g.22272857T>C | CA473407520 | ANO5 | n.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=) | |
11 | g.22272857T>G | CA379923780 | ANO5 | n.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) | |
11 | g.22272858A>C | CA379923781 | ANO5 | n.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) | |
11 | g.22272858A>G | CA379923782 | ANO5 | n.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) | |
11 | g.22272858A>T | CA379923783 | ANO5 | n.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) | |
11 | g.22272859T>A | CA379923785 | ANO5 | n.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) | |
11 | g.22272859T>C | CA5923457 | ANO5 | n.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 |
11 | g.22272859T>G | CA379923784 | ANO5 | n.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) | |
11 | g.22272859T= | CA1957402890 | ANO5 | n.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=) | |
11 | g.22272860del | CA2612837258 | ANO5 | n.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 |
11 | g.22272860T>A | CA473407521 | ANO5 | n.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=) | |
11 | g.22272860T>C | CA473407522 | ANO5 | n.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=) | |
11 | g.22272860T>G | CA379923786 | ANO5 | n.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) | |
11 | g.22272861G>A | CA379923789 | ANO5 | n.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 |
11 | g.22272861G>C | CA379923787 | ANO5 | n.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) | |
11 | g.22272861G>T | CA379923788 | ANO5 | n.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) | |
11 | g.22272862T>A | CA379923790 | ANO5 | n.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) | |
11 | g.22272862T>C | CA379923791 | ANO5 | n.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 |
11 | g.22272862T>G | CA379923792 | ANO5 | n.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) | |
11 | g.22272863A>C | CA473407523 | ANO5 | n.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=) | |
11 | g.22272863A>G | CA473407524 | ANO5 | n.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=) | |
11 | g.22272863A>T | CA473407525 | ANO5 | n.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=) | |
11 | g.22272866_22272867del | CA2534312050 | ANO5 | n.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) | |
11 | g.22272864G>A | CA379923793 | ANO5 | n.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) | |
11 | g.22272864G>C | CA379923794 | ANO5 | n.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) | |
11 | g.22272864G>T | CA379923795 | ANO5 | n.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) | |
11 | g.22272865A>C | CA379923796 | ANO5 | n.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) | |
11 | g.22272865A>G | CA379923797 | ANO5 | n.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) | |
11 | g.22272865A>T | CA379923798 | ANO5 | n.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) | |
11 | g.22272866G>A | CA473407526 | ANO5 | n.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 |
11 | g.22272866G>C | CA379923799 | ANO5 | n.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 |
11 | g.22272866G>T | CA379923800 | ANO5 | n.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 |
11 | g.22272867A>C | CA379923803 | ANO5 | n.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) | |
11 | g.22272867A>G | CA379923802 | ANO5 | n.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) | |
11 | g.22272867A>T | CA379923801 | ANO5 | n.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) | |
11 | g.22272868T>A | CA379923804 | ANO5 | n.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) | |
11 | g.22272868T>C | CA379923805 | ANO5 | n.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 |
11 | g.22272868T>G | CA379923806 | ANO5 | n.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) | |
11 | g.22272868_22272869insC | CA2540725596 | ANO5 | n.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) | |
11 | g.22272869T>A | CA473407528 | ANO5 | n.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=) | |
11 | g.22272869T>C | CA473407529 | ANO5 | n.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 |
11 | g.22272869T>G | CA379923807 | ANO5 | n.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) | |
11 | g.22272870del | CA2790698858 | ANO5 | n.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) | |
11 | g.22272870C>A | CA5923459 | ANO5 | n.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 |
11 | g.22272870C= | CA1957402893 | ANO5 | n.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=) | |
11 | g.22272870C>G | CA379923808 | ANO5 | n.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) | |
11 | g.22272870C>T | CA5923458 | ANO5 | n.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 |
11 | g.22272871G>A | CA218775842 | ANO5 | n.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 |
11 | g.22272871G>C | CA379923809 | ANO5 | n.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 |
11 | g.22272871G= | CA1957402897 | ANO5 | n.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=) | |
11 | g.22272871G>T | CA379923810 | ANO5 | n.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 |
11 | g.22272872del | CA2515772341 | ANO5 | n.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) | |
11 | g.22272872A>C | CA473407530 | ANO5 | n.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=) | |
11 | g.22272872A>G | CA473407531 | ANO5 | n.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 |
11 | g.22272872A>T | CA473407532 | ANO5 | n.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=) | |
11 | g.22272873G>A | CA379923811 | ANO5 | n.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) | |
11 | g.22272873G>C | CA379923812 | ANO5 | n.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) | |
11 | g.22272873G= | CA1957402906 | ANO5 | n.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=) | |
11 | g.22272873G>T | CA379923813 | ANO5 | n.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 |
11 | g.22272873_22272874insGT | CA2612837275 | ANO5 | n.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 |
11 | g.22272874T>A | CA379923815 | ANO5 | n.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) | |
11 | g.22272874T>C | CA379923816 | ANO5 | n.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 |
11 | g.22272874T>G | CA379923814 | ANO5 | n.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) | |
11 | g.22272875G>A | CA473407533 | ANO5 | n.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=) | |
11 | g.22272875G>C | CA473407534 | ANO5 | n.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=) | |
11 | g.22272875G>T | CA473407535 | ANO5 | n.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 |
11 | g.22272876G>A | CA379923817 | ANO5 | n.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 |
11 | g.22272876G>C | CA379923818 | ANO5 | n.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) | |
11 | g.22272876G= | CA1957402914 | ANO5 | n.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=) | |
11 | g.22272876G>T | CA379923819 | ANO5 | n.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 |
11 | g.22272877A= | CA1957402920 | ANO5 | n.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=) | |
11 | g.22272877A>C | CA379923820 | ANO5 | n.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) | |
11 | g.22272877A>G | CA5923460 | ANO5 | n.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 |
11 | g.22272877A>T | CA379923821 | ANO5 | n.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) | |
11 | g.22272878T>A | CA379923822 | ANO5 | n.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) | |
11 | g.22272878T>C | CA473407536 | ANO5 | n.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=) | |
11 | g.22272878T>G | CA379923823 | ANO5 | n.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) | |
11 | g.22272879G>A | CA379923824 | ANO5 | n.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) | |
11 | g.22272879G>C | CA379923825 | ANO5 | n.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 |
11 | g.22272879G= | CA1957402925 | ANO5 | n.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=) | |
11 | g.22272879G>T | CA218775845 | ANO5 | n.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 |
11 | g.22272880C>A | CA379923828 | ANO5 | n.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) | |
11 | g.22272880C>G | CA379923827 | ANO5 | n.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) | |
11 | g.22272880C>T | CA379923826 | ANO5 | n.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) | |
11 | g.22272881C>A | CA473407537 | ANO5 | n.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=) | |
11 | g.22272881C= | CA1957402929 | ANO5 | n.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=) | |
11 | g.22272881C>G | CA473407538 | ANO5 | n.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=) | |
11 | g.22272881C>T | CA5923461 | ANO5 | n.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 |
11 | g.22272882T>A | CA379923829 | ANO5 | n.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) | |
11 | g.22272882T>C | CA379923830 | ANO5 | n.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) | |
11 | g.22272882T>G | CA379923831 | ANO5 | n.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) | |
11 | g.22272882_22272883del | CA2555224231 | ANO5 | n.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) | |
11 | g.22272883G>A | CA379923832 | ANO5 | n.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) | |
11 | g.22272883G>C | CA379923833 | ANO5 | n.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) | |
11 | g.22272883G>T | CA379923834 | ANO5 | n.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) | |
11 | g.22272884G>A | CA379923835 | ANO5 | n.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) | |
11 | g.22272884G>C | CA379923836 | ANO5 | n.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) | |
11 | g.22272884G>T | CA379923837 | ANO5 | n.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) | |
11 | g.22272884_22272885insTATCATTAAA | CA2569459427 | ANO5 | n.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) | |
11 | g.22272885A>C | CA379923838 | ANO5 | n.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) | |
11 | g.22272885A>G | CA379923839 | ANO5 | n.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) | |
11 | g.22272885A>T | CA379923840 | ANO5 | n.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) | |
11 | g.22272886A>C | CA379923843 | ANO5 | n.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) | |
11 | g.22272886A>G | CA379923842 | ANO5 | n.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) | |
11 | g.22272886A>T | CA379923841 | ANO5 | n.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) | |
11 | g.22272887A= | CA1957402932 | ANO5 | n.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=) | |
11 | g.22272887A>C | CA379923844 | ANO5 | n.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) | |
11 | g.22272887A>G | CA5923462 | ANO5 | n.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 |
11 | g.22272887A>T | CA379923845 | ANO5 | n.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) | |
11 | g.22272888C>A | CA379923846 | ANO5 | n.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) | |
11 | g.22272888C= | CA1957402937 | ANO5 | n.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=) | |
11 | g.22272888C>G | CA379923847 | ANO5 | n.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) | |
11 | g.22272888C>T | CA379923848 | ANO5 | n.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 |
11 | g.22272888_22272893del | CA2539060843 | ANO5 | n.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) | |
11 | g.22272889T>A | CA379923849 | ANO5 | n.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) | |
11 | g.22272889T>C | CA379923850 | ANO5 | n.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) | |
11 | g.22272889T>G | CA379923851 | ANO5 | n.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) | |
11 | g.22272890T>A | CA473407539 | ANO5 | n.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=) | |
11 | g.22272890T>C | CA473407540 | ANO5 | n.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=) | |
11 | g.22272890T>G | CA473407541 | ANO5 | n.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=) | |
11 | g.22272891A= | CA1957402945 | ANO5 | n.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=) | |
11 | g.22272891A>C | CA379923852 | ANO5 | n.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) | |
11 | g.22272891A>G | CA5923463 | ANO5 | n.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 |
11 | g.22272891A>T | CA379923853 | ANO5 | n.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) | |
11 | g.22272892C>A | CA379923854 | ANO5 | n.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 |
11 | g.22272892C= | CA1957402949 | ANO5 | n.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=) | |
11 | g.22272892C>G | CA379923855 | ANO5 | n.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) | |
11 | g.22272892C>T | CA379923856 | ANO5 | n.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 |
11 | g.22272893C>A | CA473407542 | ANO5 | n.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=) | |
11 | g.22272893C= | CA1957402953 | ANO5 | n.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=) | |
11 | g.22272893C>G | CA473407543 | ANO5 | n.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=) | |
11 | g.22272893C>T | CA5923464 | ANO5 | n.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 |
11 | g.22272895_22272898dup | CA2695213375 | ANO5 | n.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) | |
11 | g.22272894A= | CA1957402957 | ANO5 | n.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=) | |
11 | g.22272894A>C | CA379923857 | ANO5 | n.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) | |
11 | g.22272894A>G | CA218775863 | ANO5 | n.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 |
11 | g.22272894A>T | CA379923858 | ANO5 | n.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) | |
11 | g.22272894_22272895delinsAC | CA1957402959 | ANO5 | n.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=) | |
11 | g.22272895del | CA5923465 | ANO5 | n.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 |
11 | g.22272895C>A | CA379923859 | ANO5 | n.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) | |
11 | g.22272895C= | CA1957402968 | ANO5 | n.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=) | |
11 | g.22272895C>G | CA241255 | ANO5 | n.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 |
11 | g.22272895C>T | CA379923860 | ANO5 | n.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) | |
11 | g.22272896del | CA379923861 | ANO5 | n.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) | |
11 | g.22272896T>A | CA473407544 | ANO5 | n.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=) | |
11 | g.22272896T>C | CA473407545 | ANO5 | n.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=) | |
11 | g.22272896T>G | CA473407546 | ANO5 | n.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 |
11 | g.22272897C>A | CA379923862 | ANO5 | n.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) | |
11 | g.22272897C>G | CA379923863 | ANO5 | n.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) | |
11 | g.22272897C>T | CA379923864 | ANO5 | n.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) | |
11 | g.22272898A= | CA1957402974 | ANO5 | n.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=) | |
11 | g.22272898A>C | CA379923865 | ANO5 | n.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) | |
11 | g.22272898A>G | CA10605538 | ANO5 | n.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 |
11 | g.22272898A>T | CA379923866 | ANO5 | n.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 |
11 | g.22272899A>C | CA379923868 | ANO5 | n.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) | |
11 | g.22272899A>G | CA473407547 | ANO5 | n.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 |
11 | g.22272899A>T | CA379923867 | ANO5 | n.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) | |
11 | g.22272900T>A | CA379923869 | ANO5 | n.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) | |
11 | g.22272900T>C | CA379923870 | ANO5 | n.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) | |
11 | g.22272900T>G | CA379923871 | ANO5 | n.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) | |
11 | g.22272901A= | CA1957402981 | ANO5 | n.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=) | |
11 | g.22272901A>C | CA379923872 | ANO5 | n.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 |
11 | g.22272901A>G | CA379923873 | ANO5 | n.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 |
11 | g.22272901A>T | CA379923874 | ANO5 | n.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) | |
11 | g.22272902C>A | CA379923875 | ANO5 | n.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) | |
11 | g.22272902C= | CA1957402986 | ANO5 | n.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=) | |
11 | g.22272902C>G | CA379923876 | ANO5 | n.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 |
11 | g.22272902C>T | CA473407548 | ANO5 | n.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 |
11 | g.22272903A= | CA1957402988 | ANO5 | n.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=) | |
11 | g.22272903A>C | CA473407549 | ANO5 | n.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 |
11 | g.22272903A>G | CA379923877 | ANO5 | n.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) | |
11 | g.22272903A>T | CA379923878 | ANO5 | n.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) | |
11 | g.22272904G>A | CA379923879 | ANO5 | n.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) | |
11 | g.22272904G>C | CA379923880 | ANO5 | n.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) | |
11 | g.22272904G>T | CA379923881 | ANO5 | n.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) | |
11 | g.22272905G>A | CA473407550 | ANO5 | n.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=) | |
11 | g.22272905G>C | CA379923883 | ANO5 | n.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) | |
11 | g.22272905G>T | CA379923882 | ANO5 | n.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) | |
11 | g.22272906A>C | CA473407551 | ANO5 | n.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=) | |
11 | g.22272906A>G | CA379923884 | ANO5 | n.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) | |
11 | g.22272906A>T | CA379923885 | ANO5 | n.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) | |
11 | g.22272907G>A | CA379923886 | ANO5 | n.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 |
11 | g.22272907G>C | CA379923887 | ANO5 | n.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) | |
11 | g.22272907G>T | CA379923888 | ANO5 | n.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) | |
11 | g.22272908A>C | CA379923889 | ANO5 | n.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) | |
11 | g.22272908A>G | CA473407554 | ANO5 | n.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=) | |
11 | g.22272908A>T | CA379923890 | ANO5 | n.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) | |
11 | g.22272909A>C | CA379923891 | ANO5 | n.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 |
11 | g.22272909A>G | CA379923892 | ANO5 | n.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) | |
11 | g.22272909A>T | CA379923893 | ANO5 | n.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) | |
11 | g.22272910C>A | CA379923894 | ANO5 | n.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) | |
11 | g.22272910C= | CA1957402995 | ANO5 | n.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=) | |
11 | g.22272910C>G | CA379923895 | ANO5 | n.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 |
11 | g.22272910C>T | CA379923896 | ANO5 | n.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) | |
11 | g.22272911del | CA473407560 | ANO5 | n.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 |
11 | g.22272911T>A | CA473407558 | ANO5 | n.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=) | |
11 | g.22272911T>C | CA473407559 | ANO5 | n.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 |
11 | g.22272911T>G | CA5923466 | ANO5 | n.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 |
11 | g.22272911T= | CA1957403000 | ANO5 | n.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=) | |
11 | g.22272912G>A | CA379923898 | ANO5 | n.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) | |
11 | g.22272912G>C | CA5923467 | ANO5 | n.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 |
11 | g.22272912G= | CA1957403003 | ANO5 | n.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=) | |
11 | g.22272912G>T | CA379923897 | ANO5 | n.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) | |
11 | g.22272913T>A | CA379923899 | ANO5 | n.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) | |
11 | g.22272913T>C | CA379923901 | ANO5 | n.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) | |
11 | g.22272913T>G | CA379923900 | ANO5 | n.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) | |
11 | g.22272914A= | CA1957403007 | ANO5 | n.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=) | |
11 | g.22272914A>C | CA473407566 | ANO5 | n.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=) | |
11 | g.22272914A>G | CA473407565 | ANO5 | n.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 |
11 | g.22272914A>T | CA473407562 | ANO5 | n.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=) | |
11 | g.22272915G>A | CA379923902 | ANO5 | n.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) | |
11 | g.22272915G>C | CA379923904 | ANO5 | n.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 |
11 | g.22272915G>T | CA379923903 | ANO5 | n.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) | |
11 | g.22272916C>A | CA379923905 | ANO5 | n.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) | |
11 | g.22272916C>G | CA379923907 | ANO5 | n.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) | |
11 | g.22272916C>T | CA379923906 | ANO5 | n.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) | |
11 | g.22272917T>A | CA473407569 | ANO5 | n.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=) | |
11 | g.22272917T>C | CA473407570 | ANO5 | n.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=) | |
11 | g.22272917T>G | CA473407571 | ANO5 | n.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=) | |
11 | g.22272918T>A | CA379923908 | ANO5 | n.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) | |
11 | g.22272918T>C | CA379923909 | ANO5 | n.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) | |
11 | g.22272918T>G | CA379923910 | ANO5 | n.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 |
11 | g.22272919C>A | CA379923911 | ANO5 | n.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) | |
11 | g.22272919C>G | CA379923912 | ANO5 | n.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) | |
11 | g.22272919C>T | CA379923913 | ANO5 | n.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) | |
11 | g.22272920T>A | CA473407577 | ANO5 | n.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=) | |
11 | g.22272920T>C | CA473407575 | ANO5 | n.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=) | |
11 | g.22272920T>G | CA473407576 | ANO5 | n.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=) | |
11 | g.22272921A>C | CA379923914 | ANO5 | n.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) | |
11 | g.22272921A>G | CA379923915 | ANO5 | n.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) | |
11 | g.22272921A>T | CA379923916 | ANO5 | n.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) | |
11 | g.22272922A= | CA1957403034 | ANO5 | n.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=) | |
11 | g.22272922A>C | CA379923919 | ANO5 | n.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 |
11 | g.22272922A>G | CA379923918 | ANO5 | n.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 |
11 | g.22272922A>T | CA379923917 | ANO5 | n.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) | |
11 | g.22272922_22272929delinsAAGCTCAT | CA1957403012 | ANO5 | n.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=) | |
11 | g.22272923A>C | CA379923920 | ANO5 | n.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) | |
11 | g.22272923A>G | CA473407582 | ANO5 | n.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=) | |
11 | g.22272923A>T | CA379923921 | ANO5 | n.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) | |
11 | g.22272926_22272932del | CA201498 | ANO5 | n.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 |
11 | g.22272924G>A | CA379923922 | ANO5 | n.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 |
11 | g.22272924G>C | CA379923923 | ANO5 | n.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 |
11 | g.22272924G= | CA1957403045 | ANO5 | n.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=) | |
11 | g.22272924G>T | CA379923924 | ANO5 | n.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) | |
11 | g.22272925C>A | CA379923925 | ANO5 | n.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) | |
11 | g.22272925C>G | CA379923926 | ANO5 | n.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) | |
11 | g.22272925C>T | CA379923927 | ANO5 | n.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) | |
11 | g.22272926T>A | CA473407588 | ANO5 | n.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=) | |
11 | g.22272926T>C | CA473407590 | ANO5 | n.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=) | |
11 | g.22272926T>G | CA473407591 | ANO5 | n.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=) | |
11 | g.22272926T= | CA1957403048 | ANO5 | n.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=) | |
11 | g.22272927C>A | CA379923929 | ANO5 | n.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 |
11 | g.22272927C>G | CA379923930 | ANO5 | n.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) | |
11 | g.22272927C>T | CA379923928 | ANO5 | n.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) | |
11 | g.22272927_22272928dup | CA674655011 | ANO5 | n.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 |
11 | g.22272928A= | CA1957403059 | ANO5 | n.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=) | |
11 | g.22272928A>C | CA379923931 | ANO5 | n.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) | |
11 | g.22272928A>G | CA379923932 | ANO5 | n.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 |
11 | g.22272928A>T | CA379923933 | ANO5 | n.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) |