Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.141573711_141573821delCA2768670653DIAPH1c.2041_2151del (p.Leu681_Pro717del)
c.1909_2019del (p.Leu637_Pro673del)
c.2014_2124del (p.Leu672_Pro708del)
c.2005_2115del (p.Leu669_Pro705del)
c.1975_2085del (p.Leu659_Pro695del)
5g.141573732_141573809delCA1082278647DIAPH1c.2049_2126del (p.Ser684_Gly709del)
c.1917_1994del (p.Ser640_Gly665del)
c.2022_2099del (p.Ser675_Gly700del)
c.2013_2090del (p.Ser672_Gly697del)
c.1983_2060del (p.Ser662_Gly687del)
 gnomAD v3 gnomAD v4
5g.141573748_141573825delCA1082278652DIAPH1c.2040_2117del (p.Leu681_Pro706del)
c.1908_1985del (p.Leu637_Pro662del)
c.2013_2090del (p.Leu672_Pro697del)
c.2004_2081del (p.Leu669_Pro694del)
c.1974_2051del (p.Leu659_Pro684del)
 gnomAD v3 gnomAD v4
5g.141573749_141573825delCA2768670658DIAPH1c.2031_2107del (p.Pro678ThrfsTer?)
c.1899_1975del (p.Pro634ThrfsTer?)
c.2004_2080del (p.Pro669ThrfsTer?)
c.1995_2071del (p.Pro666ThrfsTer?)
c.1965_2041del (p.Pro656ThrfsTer?)
5g.141573749_141573826delCA1082278690DIAPH1c.2024_2101del (p.Ile675_Pro701delinsThr)
c.1892_1969del (p.Ile631_Pro657delinsThr)
c.1997_2074del (p.Ile666_Pro692delinsThr)
c.1988_2065del (p.Ile663_Pro689delinsThr)
c.1958_2035del (p.Ile653_Pro679delinsThr)
 gnomAD v3 gnomAD v4
5g.141573777_141573815dupCA1082278704DIAPH1c.2056_2094dup (p.Ala698_Gly699insArgIleProProProProProProLeuProGlySerAla)
c.1924_1962dup (p.Ala654_Gly655insArgIleProProProProProProLeuProGlySerAla)
c.2029_2067dup (p.Ala689_Gly690insArgIleProProProProProProLeuProGlySerAla)
c.2020_2058dup (p.Ala686_Gly687insArgIleProProProProProProLeuProGlySerAla)
c.1990_2028dup (p.Ala676_Gly677insArgIleProProProProProProLeuProGlySerAla)
 gnomAD v3 gnomAD v4
5g.141573777_141573815delCA3479165DIAPH1c.2056_2094del (p.Arg686_Ala698del)
c.1924_1962del (p.Arg642_Ala654del)
c.2029_2067del (p.Arg677_Ala689del)
c.2020_2058del (p.Arg674_Ala686del)
c.1990_2028del (p.Arg664_Ala676del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573777_141573887delCA2675691735DIAPH1c.1976_2086del (p.Glu659_Pro695del)
c.1844_1954del (p.Glu615_Pro651del)
c.1949_2059del (p.Glu650_Pro686del)
c.1940_2050del (p.Glu647_Pro683del)
c.1910_2020del (p.Glu637_Pro673del)
 gnomAD v4
5g.141573783_141573821dupCA2675691737DIAPH1c.2034_2072dup (p.Pro691_Pro692insProProLeuProGlySerAlaArgIleProProProPro)
c.1902_1940dup (p.Pro647_Pro648insProProLeuProGlySerAlaArgIleProProProPro)
c.2007_2045dup (p.Pro682_Pro683insProProLeuProGlySerAlaArgIleProProProPro)
c.1998_2036dup (p.Pro679_Pro680insProProLeuProGlySerAlaArgIleProProProPro)
c.1968_2006dup (p.Pro669_Pro670insProProLeuProGlySerAlaArgIleProProProPro)
 gnomAD v4
5g.141573783_141573821delCA2740094098DIAPH1c.2034_2072del (p.Pro679_Pro691del)
c.1902_1940del (p.Pro635_Pro647del)
c.2007_2045del (p.Pro670_Pro682del)
c.1998_2036del (p.Pro667_Pro679del)
c.1968_2006del (p.Pro657_Pro669del)
 ClinVar
5g.141573780_141573817delCA2529081523DIAPH1c.2034_2071del (p.Pro679ThrfsTer?)
c.1902_1939del (p.Pro635ThrfsTer?)
c.2007_2044del (p.Pro670ThrfsTer?)
c.1998_2035del (p.Pro667ThrfsTer?)
c.1968_2005del (p.Pro657ThrfsTer?)
5g.141573792_141573827delCA2675691739DIAPH1c.2034_2069del (p.Pro679_Pro690del)
c.1902_1937del (p.Pro635_Pro646del)
c.2007_2042del (p.Pro670_Pro681del)
c.1998_2033del (p.Pro667_Pro678del)
c.1968_2003del (p.Pro657_Pro668del)
 gnomAD v4
5g.141573787_141573825delCA2675691742DIAPH1c.2028_2066del (p.Pro677_Pro689del)
c.1896_1934del (p.Pro633_Pro645del)
c.2001_2039del (p.Pro668_Pro680del)
c.1992_2030del (p.Pro665_Pro677del)
c.1962_2000del (p.Pro655_Pro667del)
 gnomAD v4
5g.141573786_141573803delCA1082278737DIAPH1c.2047_2064del (p.Gly683_Pro688del)
c.1915_1932del (p.Gly639_Pro644del)
c.2020_2037del (p.Gly674_Pro679del)
c.2011_2028del (p.Gly671_Pro676del)
c.1981_1998del (p.Gly661_Pro666del)
 gnomAD v3 gnomAD v4
5g.141573789_141573803delCA2710394127DIAPH1c.2047_2061del (p.Gly683_Ile687del)
c.1915_1929del (p.Gly639_Ile643del)
c.2020_2034del (p.Gly674_Ile678del)
c.2011_2025del (p.Gly671_Ile675del)
c.1981_1995del (p.Gly661_Ile665del)
 dbSNP
5g.141573803delCA2675691746DIAPH1c.2049del (p.Ser684ValfsTer?)
c.1917del (p.Ser640ValfsTer?)
c.2022del (p.Ser675ValfsTer?)
c.2013del (p.Ser672ValfsTer?)
c.1983del (p.Ser662ValfsTer?)
 gnomAD v4
5g.141573802_141573803delCA2675691747DIAPH1c.2048_2049del (p.Gly683GlufsTer3)
c.1916_1917del (p.Gly639GlufsTer3)
c.2021_2022del (p.Gly674GlufsTer3)
c.2012_2013del (p.Gly671GlufsTer3)
c.1982_1983del (p.Gly661GlufsTer3)
 gnomAD v4
5g.141573812_141573847dupCA2573139309DIAPH1c.2013_2048dup (p.Gly683_Ser684insGlyThrAlaIleProProProProProLeuProGly)
c.1881_1916dup (p.Gly639_Ser640insGlyThrAlaIleProProProProProLeuProGly)
c.1986_2021dup (p.Gly674_Ser675insGlyThrAlaIleProProProProProLeuProGly)
c.1977_2012dup (p.Gly671_Ser672insGlyThrAlaIleProProProProProLeuProGly)
c.1947_1982dup (p.Gly661_Ser662insGlyThrAlaIleProProProProProLeuProGly)
 ClinVar dbSNP gnomAD v4
5g.141573803C>ACA128437091DIAPH1c.2047G>T (p.Gly683Trp)
c.1915G>T (p.Gly639Trp)
c.2020G>T (p.Gly674Trp)
c.2011G>T (p.Gly671Trp)
c.1981G>T (p.Gly661Trp)
 dbSNP gnomAD v4
5g.141573803C=CA1587247557DIAPH1c.2047G= (p.Gly683=)
c.1915G= (p.Gly639=)
c.2020G= (p.Gly674=)
c.2011G= (p.Gly671=)
c.1981G= (p.Gly661=)
5g.141573803C>GCA361518791DIAPH1c.2047G>C (p.Gly683Arg)
c.1915G>C (p.Gly639Arg)
c.2020G>C (p.Gly674Arg)
c.2011G>C (p.Gly671Arg)
c.1981G>C (p.Gly661Arg)
5g.141573803C>TCA361518794DIAPH1c.2047G>A (p.Gly683Arg)
c.1915G>A (p.Gly639Arg)
c.2020G>A (p.Gly674Arg)
c.2011G>A (p.Gly671Arg)
c.1981G>A (p.Gly661Arg)
 gnomAD v4
5g.141573816_141573887delCA1082278749DIAPH1c.1976_2047del (p.Glu659_Pro682del)
c.1844_1915del (p.Glu615_Pro638del)
c.1949_2020del (p.Glu650_Pro673del)
c.1940_2011del (p.Glu647_Pro670del)
c.1910_1981del (p.Glu637_Pro660del)
 gnomAD v3 gnomAD v4
5g.141573804A>CCA447088943DIAPH1c.2046T>G (p.Pro682=)
c.1914T>G (p.Pro638=)
c.2019T>G (p.Pro673=)
c.2010T>G (p.Pro670=)
c.1980T>G (p.Pro660=)
5g.141573804A>GCA447088944DIAPH1c.2046T>C (p.Pro682=)
c.1914T>C (p.Pro638=)
c.2019T>C (p.Pro673=)
c.2010T>C (p.Pro670=)
c.1980T>C (p.Pro660=)
 gnomAD v4
5g.141573804A>TCA447088945DIAPH1c.2046T>A (p.Pro682=)
c.1914T>A (p.Pro638=)
c.2019T>A (p.Pro673=)
c.2010T>A (p.Pro670=)
c.1980T>A (p.Pro660=)
5g.141573805G>ACA361518798DIAPH1c.2045C>T (p.Pro682Leu)
c.1913C>T (p.Pro638Leu)
c.2018C>T (p.Pro673Leu)
c.2009C>T (p.Pro670Leu)
c.1979C>T (p.Pro660Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.141573805G>CCA361518802DIAPH1c.2045C>G (p.Pro682Arg)
c.1913C>G (p.Pro638Arg)
c.2018C>G (p.Pro673Arg)
c.2009C>G (p.Pro670Arg)
c.1979C>G (p.Pro660Arg)
 dbSNP gnomAD v4
5g.141573805G=CA1587247562DIAPH1c.2045C= (p.Pro682=)
c.1913C= (p.Pro638=)
c.2018C= (p.Pro673=)
c.2009C= (p.Pro670=)
c.1979C= (p.Pro660=)
5g.141573805G>TCA361518810DIAPH1c.2045C>A (p.Pro682His)
c.1913C>A (p.Pro638His)
c.2018C>A (p.Pro673His)
c.2009C>A (p.Pro670His)
c.1979C>A (p.Pro660His)
 gnomAD v4
5g.141573806G>ACA361518817DIAPH1c.2044C>T (p.Pro682Ser)
c.1912C>T (p.Pro638Ser)
c.2017C>T (p.Pro673Ser)
c.2008C>T (p.Pro670Ser)
c.1978C>T (p.Pro660Ser)
 gnomAD v4
5g.141573806G>CCA361518821DIAPH1c.2044C>G (p.Pro682Ala)
c.1912C>G (p.Pro638Ala)
c.2017C>G (p.Pro673Ala)
c.2008C>G (p.Pro670Ala)
c.1978C>G (p.Pro660Ala)
5g.141573806G>TCA361518813DIAPH1c.2044C>A (p.Pro682Thr)
c.1912C>A (p.Pro638Thr)
c.2017C>A (p.Pro673Thr)
c.2008C>A (p.Pro670Thr)
c.1978C>A (p.Pro660Thr)
 gnomAD v4
5g.141573807C>ACA361518822DIAPH1c.2043G>T (p.Leu681Phe)
c.1911G>T (p.Leu637Phe)
c.2016G>T (p.Leu672Phe)
c.2007G>T (p.Leu669Phe)
c.1977G>T (p.Leu659Phe)
 gnomAD v3 gnomAD v4
5g.141573807C>GCA361518823DIAPH1c.2043G>C (p.Leu681Phe)
c.1911G>C (p.Leu637Phe)
c.2016G>C (p.Leu672Phe)
c.2007G>C (p.Leu669Phe)
c.1977G>C (p.Leu659Phe)
 gnomAD v4
5g.141573807C>TCA447088947DIAPH1c.2043G>A (p.Leu681=)
c.1911G>A (p.Leu637=)
c.2016G>A (p.Leu672=)
c.2007G>A (p.Leu669=)
c.1977G>A (p.Leu659=)
 gnomAD v4
5g.141573807_141573809delCA1082278752DIAPH1c.2041_2043del (p.Leu681del)
c.1909_1911del (p.Leu637del)
c.2014_2016del (p.Leu672del)
c.2005_2007del (p.Leu669del)
c.1975_1977del (p.Leu659del)
 gnomAD v3 gnomAD v4
5g.141573808A>CCA361518826DIAPH1c.2042T>G (p.Leu681Trp)
c.1910T>G (p.Leu637Trp)
c.2015T>G (p.Leu672Trp)
c.2006T>G (p.Leu669Trp)
c.1976T>G (p.Leu659Trp)
5g.141573808A>GCA361518838DIAPH1c.2042T>C (p.Leu681Ser)
c.1910T>C (p.Leu637Ser)
c.2015T>C (p.Leu672Ser)
c.2006T>C (p.Leu669Ser)
c.1976T>C (p.Leu659Ser)
 gnomAD v4
5g.141573808A>TCA361518846DIAPH1c.2042T>A (p.Leu681Ter)
c.1910T>A (p.Leu637Ter)
c.2015T>A (p.Leu672Ter)
c.2006T>A (p.Leu669Ter)
c.1976T>A (p.Leu659Ter)
 gnomAD v4
5g.141573809A=CA1587247565DIAPH1c.2041T= (p.Leu681=)
c.1909T= (p.Leu637=)
c.2014T= (p.Leu672=)
c.2005T= (p.Leu669=)
c.1975T= (p.Leu659=)
5g.141573809A>CCA361518856DIAPH1c.2041T>G (p.Leu681Val)
c.1909T>G (p.Leu637Val)
c.2014T>G (p.Leu672Val)
c.2005T>G (p.Leu669Val)
c.1975T>G (p.Leu659Val)
 gnomAD v3 gnomAD v4
5g.141573809A>GCA128437093DIAPH1c.2041T>C (p.Leu681=)
c.1909T>C (p.Leu637=)
c.2014T>C (p.Leu672=)
c.2005T>C (p.Leu669=)
c.1975T>C (p.Leu659=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573809A>TCA361518851DIAPH1c.2041T>A (p.Leu681Met)
c.1909T>A (p.Leu637Met)
c.2014T>A (p.Leu672Met)
c.2005T>A (p.Leu669Met)
c.1975T>A (p.Leu659Met)
 dbSNP gnomAD v2
5g.141573810A=CA1587247568DIAPH1c.2040T= (p.Pro680=)
c.1908T= (p.Pro636=)
c.2013T= (p.Pro671=)
c.2004T= (p.Pro668=)
c.1974T= (p.Pro658=)
5g.141573810A>CCA447088178DIAPH1c.2040T>G (p.Pro680=)
c.1908T>G (p.Pro636=)
c.2013T>G (p.Pro671=)
c.2004T>G (p.Pro668=)
c.1974T>G (p.Pro658=)
5g.141573810A>GCA447088177DIAPH1c.2040T>C (p.Pro680=)
c.1908T>C (p.Pro636=)
c.2013T>C (p.Pro671=)
c.2004T>C (p.Pro668=)
c.1974T>C (p.Pro658=)
 dbSNP gnomAD v3 gnomAD v4
5g.141573810A>TCA447088175DIAPH1c.2040T>A (p.Pro680=)
c.1908T>A (p.Pro636=)
c.2013T>A (p.Pro671=)
c.2004T>A (p.Pro668=)
c.1974T>A (p.Pro658=)
 gnomAD v4
5g.141573811G>ACA361518864DIAPH1c.2039C>T (p.Pro680Leu)
c.1907C>T (p.Pro636Leu)
c.2012C>T (p.Pro671Leu)
c.2003C>T (p.Pro668Leu)
c.1973C>T (p.Pro658Leu)
5g.141573811G>CCA361518867DIAPH1c.2039C>G (p.Pro680Arg)
c.1907C>G (p.Pro636Arg)
c.2012C>G (p.Pro671Arg)
c.2003C>G (p.Pro668Arg)
c.1973C>G (p.Pro658Arg)
5g.141573811G>TCA361518871DIAPH1c.2039C>A (p.Pro680His)
c.1907C>A (p.Pro636His)
c.2012C>A (p.Pro671His)
c.2003C>A (p.Pro668His)
c.1973C>A (p.Pro658His)
 gnomAD v4
5g.141573812G>ACA361518878DIAPH1c.2038C>T (p.Pro680Ser)
c.1906C>T (p.Pro636Ser)
c.2011C>T (p.Pro671Ser)
c.2002C>T (p.Pro668Ser)
c.1972C>T (p.Pro658Ser)
5g.141573812G>CCA361518883DIAPH1c.2038C>G (p.Pro680Ala)
c.1906C>G (p.Pro636Ala)
c.2011C>G (p.Pro671Ala)
c.2002C>G (p.Pro668Ala)
c.1972C>G (p.Pro658Ala)
5g.141573812G>TCA361518892DIAPH1c.2038C>A (p.Pro680Thr)
c.1906C>A (p.Pro636Thr)
c.2011C>A (p.Pro671Thr)
c.2002C>A (p.Pro668Thr)
c.1972C>A (p.Pro658Thr)
 gnomAD v4
5g.141573813A=CA1587247571DIAPH1c.2037T= (p.Pro679=)
c.1905T= (p.Pro635=)
c.2010T= (p.Pro670=)
c.2001T= (p.Pro667=)
c.1971T= (p.Pro657=)
5g.141573813A>CCA447088181DIAPH1c.2037T>G (p.Pro679=)
c.1905T>G (p.Pro635=)
c.2010T>G (p.Pro670=)
c.2001T>G (p.Pro667=)
c.1971T>G (p.Pro657=)
5g.141573813A>GCA447088185DIAPH1c.2037T>C (p.Pro679=)
c.1905T>C (p.Pro635=)
c.2010T>C (p.Pro670=)
c.2001T>C (p.Pro667=)
c.1971T>C (p.Pro657=)
 dbSNP gnomAD v3 gnomAD v4
5g.141573813A>TCA447088184DIAPH1c.2037T>A (p.Pro679=)
c.1905T>A (p.Pro635=)
c.2010T>A (p.Pro670=)
c.2001T>A (p.Pro667=)
c.1971T>A (p.Pro657=)
5g.141573814G>ACA3479172DIAPH1c.2036C>T (p.Pro679Leu)
c.1904C>T (p.Pro635Leu)
c.2009C>T (p.Pro670Leu)
c.2000C>T (p.Pro667Leu)
c.1970C>T (p.Pro657Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573814G>CCA361518912DIAPH1c.2036C>G (p.Pro679Arg)
c.1904C>G (p.Pro635Arg)
c.2009C>G (p.Pro670Arg)
c.2000C>G (p.Pro667Arg)
c.1970C>G (p.Pro657Arg)
 ClinVar gnomAD v4
5g.141573814G=CA1587247582DIAPH1c.2036C= (p.Pro679=)
c.1904C= (p.Pro635=)
c.2009C= (p.Pro670=)
c.2000C= (p.Pro667=)
c.1970C= (p.Pro657=)
5g.141573814G>TCA361518908DIAPH1c.2036C>A (p.Pro679His)
c.1904C>A (p.Pro635His)
c.2009C>A (p.Pro670His)
c.2000C>A (p.Pro667His)
c.1970C>A (p.Pro657His)
 gnomAD v4
5g.141573815_141573816insTGGCA2675691748DIAPH1c.2036_2037insACC (p.Pro679_Pro680insPro)
c.1904_1905insACC (p.Pro635_Pro636insPro)
c.2009_2010insACC (p.Pro670_Pro671insPro)
c.2000_2001insACC (p.Pro667_Pro668insPro)
c.1970_1971insACC (p.Pro657_Pro658insPro)
 gnomAD v4
5g.141573815G>ACA361518929DIAPH1c.2035C>T (p.Pro679Ser)
c.1903C>T (p.Pro635Ser)
c.2008C>T (p.Pro670Ser)
c.1999C>T (p.Pro667Ser)
c.1969C>T (p.Pro657Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141573815G>CCA361518931DIAPH1c.2035C>G (p.Pro679Ala)
c.1903C>G (p.Pro635Ala)
c.2008C>G (p.Pro670Ala)
c.1999C>G (p.Pro667Ala)
c.1969C>G (p.Pro657Ala)
5g.141573815G=CA1587247588DIAPH1c.2035C= (p.Pro679=)
c.1903C= (p.Pro635=)
c.2008C= (p.Pro670=)
c.1999C= (p.Pro667=)
c.1969C= (p.Pro657=)
5g.141573815G>TCA361518930DIAPH1c.2035C>A (p.Pro679Thr)
c.1903C>A (p.Pro635Thr)
c.2008C>A (p.Pro670Thr)
c.1999C>A (p.Pro667Thr)
c.1969C>A (p.Pro657Thr)
 gnomAD v4
5g.141573816A=CA1587247594DIAPH1c.2034T= (p.Pro678=)
c.1902T= (p.Pro634=)
c.2007T= (p.Pro669=)
c.1998T= (p.Pro666=)
c.1968T= (p.Pro656=)
5g.141573816A>CCA447088187DIAPH1c.2034T>G (p.Pro678=)
c.1902T>G (p.Pro634=)
c.2007T>G (p.Pro669=)
c.1998T>G (p.Pro666=)
c.1968T>G (p.Pro656=)
5g.141573816A>GCA447088188DIAPH1c.2034T>C (p.Pro678=)
c.1902T>C (p.Pro634=)
c.2007T>C (p.Pro669=)
c.1998T>C (p.Pro666=)
c.1968T>C (p.Pro656=)
 dbSNP gnomAD v3 gnomAD v4
5g.141573816A>TCA447088189DIAPH1c.2034T>A (p.Pro678=)
c.1902T>A (p.Pro634=)
c.2007T>A (p.Pro669=)
c.1998T>A (p.Pro666=)
c.1968T>A (p.Pro656=)
 gnomAD v4
5g.141573817G>ACA361518934DIAPH1c.2033C>T (p.Pro678Leu)
c.1901C>T (p.Pro634Leu)
c.2006C>T (p.Pro669Leu)
c.1997C>T (p.Pro666Leu)
c.1967C>T (p.Pro656Leu)
 dbSNP gnomAD v4
5g.141573817G>CCA361518951DIAPH1c.2033C>G (p.Pro678Arg)
c.1901C>G (p.Pro634Arg)
c.2006C>G (p.Pro669Arg)
c.1997C>G (p.Pro666Arg)
c.1967C>G (p.Pro656Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.141573817G=CA1587247596DIAPH1c.2033C= (p.Pro678=)
c.1901C= (p.Pro634=)
c.2006C= (p.Pro669=)
c.1997C= (p.Pro666=)
c.1967C= (p.Pro656=)
5g.141573817G>TCA361518952DIAPH1c.2033C>A (p.Pro678His)
c.1901C>A (p.Pro634His)
c.2006C>A (p.Pro669His)
c.1997C>A (p.Pro666His)
c.1967C>A (p.Pro656His)
 gnomAD v4
5g.141573822_141573893delCA2675691749DIAPH1c.1962_2033del (p.Pro655_Pro678del)
c.1830_1901del (p.Pro611_Pro634del)
c.1935_2006del (p.Pro646_Pro669del)
c.1926_1997del (p.Pro643_Pro666del)
c.1896_1967del (p.Pro633_Pro656del)
 gnomAD v4
5g.141573822_141573929delCA2768670695DIAPH1c.1926_2033del (p.Pro643_Pro678del)
c.1794_1901del (p.Pro599_Pro634del)
c.1899_2006del (p.Pro634_Pro669del)
c.1890_1997del (p.Pro631_Pro666del)
c.1860_1967del (p.Pro621_Pro656del)
5g.141573818G>ACA3479173DIAPH1c.2032C>T (p.Pro678Ser)
c.1900C>T (p.Pro634Ser)
c.2005C>T (p.Pro669Ser)
c.1996C>T (p.Pro666Ser)
c.1966C>T (p.Pro656Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573818G>CCA361518957DIAPH1c.2032C>G (p.Pro678Ala)
c.1900C>G (p.Pro634Ala)
c.2005C>G (p.Pro669Ala)
c.1996C>G (p.Pro666Ala)
c.1966C>G (p.Pro656Ala)
5g.141573818G=CA1587247604DIAPH1c.2032C= (p.Pro678=)
c.1900C= (p.Pro634=)
c.2005C= (p.Pro669=)
c.1996C= (p.Pro666=)
c.1966C= (p.Pro656=)
5g.141573818G>TCA361518960DIAPH1c.2032C>A (p.Pro678Thr)
c.1900C>A (p.Pro634Thr)
c.2005C>A (p.Pro669Thr)
c.1996C>A (p.Pro666Thr)
c.1966C>A (p.Pro656Thr)
 gnomAD v4
5g.141573819delCA645558432DIAPH1c.2031del (p.Pro678LeufsTer?)
c.1899del (p.Pro634LeufsTer?)
c.2004del (p.Pro669LeufsTer?)
c.1995del (p.Pro666LeufsTer?)
c.1965del (p.Pro656LeufsTer?)
 COSMIC
5g.141573819T>ACA447088190DIAPH1c.2031A>T (p.Pro677=)
c.1899A>T (p.Pro633=)
c.2004A>T (p.Pro668=)
c.1995A>T (p.Pro665=)
c.1965A>T (p.Pro655=)
 dbSNP gnomAD v3 gnomAD v4
5g.141573819T>CCA447088191DIAPH1c.2031A>G (p.Pro677=)
c.1899A>G (p.Pro633=)
c.2004A>G (p.Pro668=)
c.1995A>G (p.Pro665=)
c.1965A>G (p.Pro655=)
 gnomAD v4
5g.141573819T>GCA447088193DIAPH1c.2031A>C (p.Pro677=)
c.1899A>C (p.Pro633=)
c.2004A>C (p.Pro668=)
c.1995A>C (p.Pro665=)
c.1965A>C (p.Pro655=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573819T=CA1587247612DIAPH1c.2031A= (p.Pro677=)
c.1899A= (p.Pro633=)
c.2004A= (p.Pro668=)
c.1995A= (p.Pro665=)
c.1965A= (p.Pro655=)
5g.141573819_141573822delinsTGGGCA1587247614DIAPH1c.2028_2031delinsCCCA (p.Pro676=)
c.1896_1899delinsCCCA (p.Pro632=)
c.2001_2004delinsCCCA (p.Pro667=)
c.1992_1995delinsCCCA (p.Pro664=)
c.1962_1965delinsCCCA (p.Pro654=)
5g.141573820G>ACA361518974DIAPH1c.2030C>T (p.Pro677Leu)
c.1898C>T (p.Pro633Leu)
c.2003C>T (p.Pro668Leu)
c.1994C>T (p.Pro665Leu)
c.1964C>T (p.Pro655Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573820G>CCA361518976DIAPH1c.2030C>G (p.Pro677Arg)
c.1898C>G (p.Pro633Arg)
c.2003C>G (p.Pro668Arg)
c.1994C>G (p.Pro665Arg)
c.1964C>G (p.Pro655Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.141573820G=CA1587247632DIAPH1c.2030C= (p.Pro677=)
c.1898C= (p.Pro633=)
c.2003C= (p.Pro668=)
c.1994C= (p.Pro665=)
c.1964C= (p.Pro655=)
5g.141573820G>TCA3479174DIAPH1c.2030C>A (p.Pro677Gln)
c.1898C>A (p.Pro633Gln)
c.2003C>A (p.Pro668Gln)
c.1994C>A (p.Pro665Gln)
c.1964C>A (p.Pro655Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573825dupCA2675691750DIAPH1c.2030dup (p.Pro678ThrfsTer9)
c.1898dup (p.Pro634ThrfsTer9)
c.2003dup (p.Pro669ThrfsTer9)
c.1994dup (p.Pro666ThrfsTer9)
c.1964dup (p.Pro656ThrfsTer9)
 gnomAD v4
5g.141573825delCA645558433DIAPH1c.2030del (p.Pro677HisfsTer?)
c.1898del (p.Pro633HisfsTer?)
c.2003del (p.Pro668HisfsTer?)
c.1994del (p.Pro665HisfsTer?)
c.1964del (p.Pro655HisfsTer?)
 gnomAD v4 COSMIC
5g.141573823_141573825delCA913108377DIAPH1c.2028_2030del (p.Pro677del)
c.1896_1898del (p.Pro633del)
c.2001_2003del (p.Pro668del)
c.1992_1994del (p.Pro665del)
c.1962_1964del (p.Pro655del)
 ClinVar dbSNP
5g.141573821G>ACA361518996DIAPH1c.2029C>T (p.Pro677Ser)
c.1897C>T (p.Pro633Ser)
c.2002C>T (p.Pro668Ser)
c.1993C>T (p.Pro665Ser)
c.1963C>T (p.Pro655Ser)
5g.141573821G>CCA361519001DIAPH1c.2029C>G (p.Pro677Ala)
c.1897C>G (p.Pro633Ala)
c.2002C>G (p.Pro668Ala)
c.1993C>G (p.Pro665Ala)
c.1963C>G (p.Pro655Ala)
 gnomAD v4
5g.141573821G>TCA361519015DIAPH1c.2029C>A (p.Pro677Thr)
c.1897C>A (p.Pro633Thr)
c.2002C>A (p.Pro668Thr)
c.1993C>A (p.Pro665Thr)
c.1963C>A (p.Pro655Thr)
 gnomAD v4
5g.141573821_141573822insACA2675691751DIAPH1c.2028_2029insT (p.Pro677SerfsTer10)
c.1896_1897insT (p.Pro633SerfsTer10)
c.2001_2002insT (p.Pro668SerfsTer10)
c.1992_1993insT (p.Pro665SerfsTer10)
c.1962_1963insT (p.Pro655SerfsTer10)
 gnomAD v4
5g.141573822G>ACA3479175DIAPH1c.2028C>T (p.Pro676=)
c.1896C>T (p.Pro632=)
c.2001C>T (p.Pro667=)
c.1992C>T (p.Pro664=)
c.1962C>T (p.Pro654=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573822G>CCA447088196DIAPH1c.2028C>G (p.Pro676=)
c.1896C>G (p.Pro632=)
c.2001C>G (p.Pro667=)
c.1992C>G (p.Pro664=)
c.1962C>G (p.Pro654=)
 gnomAD v4
5g.141573822G=CA1587247637DIAPH1c.2028C= (p.Pro676=)
c.1896C= (p.Pro632=)
c.2001C= (p.Pro667=)
c.1992C= (p.Pro664=)
c.1962C= (p.Pro654=)
5g.141573822G>TCA447088197DIAPH1c.2028C>A (p.Pro676=)
c.1896C>A (p.Pro632=)
c.2001C>A (p.Pro667=)
c.1992C>A (p.Pro664=)
c.1962C>A (p.Pro654=)
 gnomAD v4
5g.141573823G>ACA361519019DIAPH1c.2027C>T (p.Pro676Leu)
c.1895C>T (p.Pro632Leu)
c.2000C>T (p.Pro667Leu)
c.1991C>T (p.Pro664Leu)
c.1961C>T (p.Pro654Leu)
 dbSNP gnomAD v2 gnomAD v4
5g.141573823G>CCA3479176DIAPH1c.2027C>G (p.Pro676Arg)
c.1895C>G (p.Pro632Arg)
c.2000C>G (p.Pro667Arg)
c.1991C>G (p.Pro664Arg)
c.1961C>G (p.Pro654Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.141573823G=CA1587247641DIAPH1c.2027C= (p.Pro676=)
c.1895C= (p.Pro632=)
c.2000C= (p.Pro667=)
c.1991C= (p.Pro664=)
c.1961C= (p.Pro654=)
5g.141573823G>TCA361519027DIAPH1c.2027C>A (p.Pro676His)
c.1895C>A (p.Pro632His)
c.2000C>A (p.Pro667His)
c.1991C>A (p.Pro664His)
c.1961C>A (p.Pro654His)
 gnomAD v4
5g.141573830_141573901delCA1082278789DIAPH1c.1956_2027del (p.Pro653_Pro676del)
c.1824_1895del (p.Pro609_Pro632del)
c.1929_2000del (p.Pro644_Pro667del)
c.1920_1991del (p.Pro641_Pro664del)
c.1890_1961del (p.Pro631_Pro654del)
 gnomAD v3 gnomAD v4
5g.141573823_141573824insACA2768670698DIAPH1c.2026_2027insT (p.Pro676LeufsTer11)
c.1894_1895insT (p.Pro632LeufsTer11)
c.1999_2000insT (p.Pro667LeufsTer11)
c.1990_1991insT (p.Pro664LeufsTer11)
c.1960_1961insT (p.Pro654LeufsTer11)
5g.141573824G>ACA361519031DIAPH1c.2026C>T (p.Pro676Ser)
c.1894C>T (p.Pro632Ser)
c.1999C>T (p.Pro667Ser)
c.1990C>T (p.Pro664Ser)
c.1960C>T (p.Pro654Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.141573824G>CCA361519032DIAPH1c.2026C>G (p.Pro676Ala)
c.1894C>G (p.Pro632Ala)
c.1999C>G (p.Pro667Ala)
c.1990C>G (p.Pro664Ala)
c.1960C>G (p.Pro654Ala)
5g.141573824G=CA1587247649DIAPH1c.2026C= (p.Pro676=)
c.1894C= (p.Pro632=)
c.1999C= (p.Pro667=)
c.1990C= (p.Pro664=)
c.1960C= (p.Pro654=)
5g.141573824G>TCA361519033DIAPH1c.2026C>A (p.Pro676Thr)
c.1894C>A (p.Pro632Thr)
c.1999C>A (p.Pro667Thr)
c.1990C>A (p.Pro664Thr)
c.1960C>A (p.Pro654Thr)
 gnomAD v4
5g.141573824_141573827delinsGGATCA1587247651DIAPH1c.2023_2026delinsATCC (p.Ile675=)
c.1891_1894delinsATCC (p.Ile631=)
c.1996_1999delinsATCC (p.Ile666=)
c.1987_1990delinsATCC (p.Ile663=)
c.1957_1960delinsATCC (p.Ile653=)
5g.141573825G>ACA3479177DIAPH1c.2025C>T (p.Ile675=)
c.1893C>T (p.Ile631=)
c.1998C>T (p.Ile666=)
c.1989C>T (p.Ile663=)
c.1959C>T (p.Ile653=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573825G>CCA361519038DIAPH1c.2025C>G (p.Ile675Met)
c.1893C>G (p.Ile631Met)
c.1998C>G (p.Ile666Met)
c.1989C>G (p.Ile663Met)
c.1959C>G (p.Ile653Met)
 ClinVar dbSNP
5g.141573825G=CA1587247655DIAPH1c.2025C= (p.Ile675=)
c.1893C= (p.Ile631=)
c.1998C= (p.Ile666=)
c.1989C= (p.Ile663=)
c.1959C= (p.Ile653=)
5g.141573825G>TCA447088203DIAPH1c.2025C>A (p.Ile675=)
c.1893C>A (p.Ile631=)
c.1998C>A (p.Ile666=)
c.1989C>A (p.Ile663=)
c.1959C>A (p.Ile653=)
 ClinVar gnomAD v4
5g.141573826_141573828delCA1587247654DIAPH1c.2023_2025del (p.Ile675del)
c.1891_1893del (p.Ile631del)
c.1996_1998del (p.Ile666del)
c.1987_1989del (p.Ile663del)
c.1957_1959del (p.Ile653del)
 dbSNP
5g.141573826A>CCA361519047DIAPH1c.2024T>G (p.Ile675Ser)
c.1892T>G (p.Ile631Ser)
c.1997T>G (p.Ile666Ser)
c.1988T>G (p.Ile663Ser)
c.1958T>G (p.Ile653Ser)
 gnomAD v4
5g.141573826A>GCA361519048DIAPH1c.2024T>C (p.Ile675Thr)
c.1892T>C (p.Ile631Thr)
c.1997T>C (p.Ile666Thr)
c.1988T>C (p.Ile663Thr)
c.1958T>C (p.Ile653Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141573826A>TCA361519049DIAPH1c.2024T>A (p.Ile675Asn)
c.1892T>A (p.Ile631Asn)
c.1997T>A (p.Ile666Asn)
c.1988T>A (p.Ile663Asn)
c.1958T>A (p.Ile653Asn)
5g.141573826_141573827insGCA2768670701DIAPH1c.2023_2024insC (p.Ile675ThrfsTer12)
c.1891_1892insC (p.Ile631ThrfsTer12)
c.1996_1997insC (p.Ile666ThrfsTer12)
c.1987_1988insC (p.Ile663ThrfsTer12)
c.1957_1958insC (p.Ile653ThrfsTer12)
5g.141573827T>ACA361519052DIAPH1c.2023A>T (p.Ile675Phe)
c.1891A>T (p.Ile631Phe)
c.1996A>T (p.Ile666Phe)
c.1987A>T (p.Ile663Phe)
c.1957A>T (p.Ile653Phe)
5g.141573827T>CCA361519053DIAPH1c.2023A>G (p.Ile675Val)
c.1891A>G (p.Ile631Val)
c.1996A>G (p.Ile666Val)
c.1987A>G (p.Ile663Val)
c.1957A>G (p.Ile653Val)
 ClinVar dbSNP gnomAD v4
5g.141573827T>GCA361519057DIAPH1c.2023A>C (p.Ile675Leu)
c.1891A>C (p.Ile631Leu)
c.1996A>C (p.Ile666Leu)
c.1987A>C (p.Ile663Leu)
c.1957A>C (p.Ile653Leu)
 dbSNP gnomAD v3 gnomAD v4
5g.141573827T=CA1587247658DIAPH1c.2023A= (p.Ile675=)
c.1891A= (p.Ile631=)
c.1996A= (p.Ile666=)
c.1987A= (p.Ile663=)
c.1957A= (p.Ile653=)
5g.141573828G>ACA447088206DIAPH1c.2022C>T (p.Ala674=)
c.1890C>T (p.Ala630=)
c.1995C>T (p.Ala665=)
c.1986C>T (p.Ala662=)
c.1956C>T (p.Ala652=)
 gnomAD v4
5g.141573828G>CCA447088207DIAPH1c.2022C>G (p.Ala674=)
c.1890C>G (p.Ala630=)
c.1995C>G (p.Ala665=)
c.1986C>G (p.Ala662=)
c.1956C>G (p.Ala652=)
5g.141573828G>TCA447088208DIAPH1c.2022C>A (p.Ala674=)
c.1890C>A (p.Ala630=)
c.1995C>A (p.Ala665=)
c.1986C>A (p.Ala662=)
c.1956C>A (p.Ala652=)
 gnomAD v4
5g.141573829G>ACA361519067DIAPH1c.2021C>T (p.Ala674Val)
c.1889C>T (p.Ala630Val)
c.1994C>T (p.Ala665Val)
c.1985C>T (p.Ala662Val)
c.1955C>T (p.Ala652Val)
 gnomAD v4
5g.141573829G>CCA361519071DIAPH1c.2021C>G (p.Ala674Gly)
c.1889C>G (p.Ala630Gly)
c.1994C>G (p.Ala665Gly)
c.1985C>G (p.Ala662Gly)
c.1955C>G (p.Ala652Gly)
5g.141573829G>TCA361519070DIAPH1c.2021C>A (p.Ala674Asp)
c.1889C>A (p.Ala630Asp)
c.1994C>A (p.Ala665Asp)
c.1985C>A (p.Ala662Asp)
c.1955C>A (p.Ala652Asp)
 gnomAD v4
5g.141573830C>ACA361519072DIAPH1c.2020G>T (p.Ala674Ser)
c.1888G>T (p.Ala630Ser)
c.1993G>T (p.Ala665Ser)
c.1984G>T (p.Ala662Ser)
c.1954G>T (p.Ala652Ser)
 gnomAD v4
5g.141573830C=CA1587247659DIAPH1c.2020G= (p.Ala674=)
c.1888G= (p.Ala630=)
c.1993G= (p.Ala665=)
c.1984G= (p.Ala662=)
c.1954G= (p.Ala652=)
5g.141573830C>GCA361519075DIAPH1c.2020G>C (p.Ala674Pro)
c.1888G>C (p.Ala630Pro)
c.1993G>C (p.Ala665Pro)
c.1984G>C (p.Ala662Pro)
c.1954G>C (p.Ala652Pro)
 gnomAD v4
5g.141573830C>TCA361519079DIAPH1c.2020G>A (p.Ala674Thr)
c.1888G>A (p.Ala630Thr)
c.1993G>A (p.Ala665Thr)
c.1984G>A (p.Ala662Thr)
c.1954G>A (p.Ala652Thr)
 dbSNP gnomAD v3 gnomAD v4
5g.141573831A=CA1587247661DIAPH1c.2019T= (p.Thr673=)
c.1887T= (p.Thr629=)
c.1992T= (p.Thr664=)
c.1983T= (p.Thr661=)
c.1953T= (p.Thr651=)
5g.141573831A>CCA447088213DIAPH1c.2019T>G (p.Thr673=)
c.1887T>G (p.Thr629=)
c.1992T>G (p.Thr664=)
c.1983T>G (p.Thr661=)
c.1953T>G (p.Thr651=)
5g.141573831A>GCA447088214DIAPH1c.2019T>C (p.Thr673=)
c.1887T>C (p.Thr629=)
c.1992T>C (p.Thr664=)
c.1983T>C (p.Thr661=)
c.1953T>C (p.Thr651=)
5g.141573831A>TCA447088215DIAPH1c.2019T>A (p.Thr673=)
c.1887T>A (p.Thr629=)
c.1992T>A (p.Thr664=)
c.1983T>A (p.Thr661=)
c.1953T>A (p.Thr651=)
 dbSNP
5g.141573832G>ACA361519081DIAPH1c.2018C>T (p.Thr673Ile)
c.1886C>T (p.Thr629Ile)
c.1991C>T (p.Thr664Ile)
c.1982C>T (p.Thr661Ile)
c.1952C>T (p.Thr651Ile)
 ClinVar dbSNP gnomAD v4
5g.141573832G>CCA128437158DIAPH1c.2018C>G (p.Thr673Ser)
c.1886C>G (p.Thr629Ser)
c.1991C>G (p.Thr664Ser)
c.1982C>G (p.Thr661Ser)
c.1952C>G (p.Thr651Ser)
 dbSNP
5g.141573832G=CA1587247665DIAPH1c.2018C= (p.Thr673=)
c.1886C= (p.Thr629=)
c.1991C= (p.Thr664=)
c.1982C= (p.Thr661=)
c.1952C= (p.Thr651=)
5g.141573832G>TCA361519084DIAPH1c.2018C>A (p.Thr673Asn)
c.1886C>A (p.Thr629Asn)
c.1991C>A (p.Thr664Asn)
c.1982C>A (p.Thr661Asn)
c.1952C>A (p.Thr651Asn)
5g.141573833delCA645558434DIAPH1c.2017del (p.Thr673LeufsTer?)
c.1885del (p.Thr629LeufsTer?)
c.1990del (p.Thr664LeufsTer?)
c.1981del (p.Thr661LeufsTer?)
c.1951del (p.Thr651LeufsTer?)
 COSMIC
5g.141573833T>ACA361519089DIAPH1c.2017A>T (p.Thr673Ser)
c.1885A>T (p.Thr629Ser)
c.1990A>T (p.Thr664Ser)
c.1981A>T (p.Thr661Ser)
c.1951A>T (p.Thr651Ser)
5g.141573833T>CCA361519103DIAPH1c.2017A>G (p.Thr673Ala)
c.1885A>G (p.Thr629Ala)
c.1990A>G (p.Thr664Ala)
c.1981A>G (p.Thr661Ala)
c.1951A>G (p.Thr651Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573833T>GCA361519115DIAPH1c.2017A>C (p.Thr673Pro)
c.1885A>C (p.Thr629Pro)
c.1990A>C (p.Thr664Pro)
c.1981A>C (p.Thr661Pro)
c.1951A>C (p.Thr651Pro)
5g.141573833T=CA1587247668DIAPH1c.2017A= (p.Thr673=)
c.1885A= (p.Thr629=)
c.1990A= (p.Thr664=)
c.1981A= (p.Thr661=)
c.1951A= (p.Thr651=)
5g.141573834A>CCA447088220DIAPH1c.2016T>G (p.Gly672=)
c.1884T>G (p.Gly628=)
c.1989T>G (p.Gly663=)
c.1980T>G (p.Gly660=)
c.1950T>G (p.Gly650=)
5g.141573834A>GCA447088219DIAPH1c.2016T>C (p.Gly672=)
c.1884T>C (p.Gly628=)
c.1989T>C (p.Gly663=)
c.1980T>C (p.Gly660=)
c.1950T>C (p.Gly650=)
 gnomAD v4
5g.141573834A>TCA447088218DIAPH1c.2016T>A (p.Gly672=)
c.1884T>A (p.Gly628=)
c.1989T>A (p.Gly663=)
c.1980T>A (p.Gly660=)
c.1950T>A (p.Gly650=)
5g.141573835C>ACA361519120DIAPH1c.2015G>T (p.Gly672Val)
c.1883G>T (p.Gly628Val)
c.1988G>T (p.Gly663Val)
c.1979G>T (p.Gly660Val)
c.1949G>T (p.Gly650Val)
 dbSNP gnomAD v2 gnomAD v4
5g.141573835C=CA1587247687DIAPH1c.2015G= (p.Gly672=)
c.1883G= (p.Gly628=)
c.1988G= (p.Gly663=)
c.1979G= (p.Gly660=)
c.1949G= (p.Gly650=)
5g.141573835C>GCA361519125DIAPH1c.2015G>C (p.Gly672Ala)
c.1883G>C (p.Gly628Ala)
c.1988G>C (p.Gly663Ala)
c.1979G>C (p.Gly660Ala)
c.1949G>C (p.Gly650Ala)
5g.141573835C>TCA361519129DIAPH1c.2015G>A (p.Gly672Asp)
c.1883G>A (p.Gly628Asp)
c.1988G>A (p.Gly663Asp)
c.1979G>A (p.Gly660Asp)
c.1949G>A (p.Gly650Asp)
 ClinVar dbSNP gnomAD v4
5g.141573836C>ACA361519161DIAPH1c.2014G>T (p.Gly672Cys)
c.1882G>T (p.Gly628Cys)
c.1987G>T (p.Gly663Cys)
c.1978G>T (p.Gly660Cys)
c.1948G>T (p.Gly650Cys)
 gnomAD v4 COSMIC
5g.141573836C>GCA361519147DIAPH1c.2014G>C (p.Gly672Arg)
c.1882G>C (p.Gly628Arg)
c.1987G>C (p.Gly663Arg)
c.1978G>C (p.Gly660Arg)
c.1948G>C (p.Gly650Arg)
5g.141573836C>TCA361519152DIAPH1c.2014G>A (p.Gly672Ser)
c.1882G>A (p.Gly628Ser)
c.1987G>A (p.Gly663Ser)
c.1978G>A (p.Gly660Ser)
c.1948G>A (p.Gly650Ser)
 gnomAD v4
5g.141573837T>ACA447088222DIAPH1c.2013A>T (p.Gly671=)
c.1881A>T (p.Gly627=)
c.1986A>T (p.Gly662=)
c.1977A>T (p.Gly659=)
c.1947A>T (p.Gly649=)
5g.141573837T>CCA447088223DIAPH1c.2013A>G (p.Gly671=)
c.1881A>G (p.Gly627=)
c.1986A>G (p.Gly662=)
c.1977A>G (p.Gly659=)
c.1947A>G (p.Gly649=)
 gnomAD v4
5g.141573837T>GCA447088224DIAPH1c.2013A>C (p.Gly671=)
c.1881A>C (p.Gly627=)
c.1986A>C (p.Gly662=)
c.1977A>C (p.Gly659=)
c.1947A>C (p.Gly649=)
5g.141573838C>ACA361519166DIAPH1c.2012G>T (p.Gly671Val)
c.1880G>T (p.Gly627Val)
c.1985G>T (p.Gly662Val)
c.1976G>T (p.Gly659Val)
c.1946G>T (p.Gly649Val)
5g.141573838C>GCA361519167DIAPH1c.2012G>C (p.Gly671Ala)
c.1880G>C (p.Gly627Ala)
c.1985G>C (p.Gly662Ala)
c.1976G>C (p.Gly659Ala)
c.1946G>C (p.Gly649Ala)
5g.141573838C>TCA361519168DIAPH1c.2012G>A (p.Gly671Glu)
c.1880G>A (p.Gly627Glu)
c.1985G>A (p.Gly662Glu)
c.1976G>A (p.Gly659Glu)
c.1946G>A (p.Gly649Glu)
 gnomAD v4
5g.141573839C>ACA361519170DIAPH1c.2011G>T (p.Gly671Ter)
c.1879G>T (p.Gly627Ter)
c.1984G>T (p.Gly662Ter)
c.1975G>T (p.Gly659Ter)
c.1945G>T (p.Gly649Ter)
 gnomAD v4
5g.141573839C=CA1587247693DIAPH1c.2011G= (p.Gly671=)
c.1879G= (p.Gly627=)
c.1984G= (p.Gly662=)
c.1975G= (p.Gly659=)
c.1945G= (p.Gly649=)
5g.141573839C>GCA361519171DIAPH1c.2011G>C (p.Gly671Arg)
c.1879G>C (p.Gly627Arg)
c.1984G>C (p.Gly662Arg)
c.1975G>C (p.Gly659Arg)
c.1945G>C (p.Gly649Arg)
 gnomAD v4
5g.141573839C>TCA3479178DIAPH1c.2011G>A (p.Gly671Arg)
c.1879G>A (p.Gly627Arg)
c.1984G>A (p.Gly662Arg)
c.1975G>A (p.Gly659Arg)
c.1945G>A (p.Gly649Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573840A>CCA447088226DIAPH1c.2010T>G (p.Pro670=)
c.1878T>G (p.Pro626=)
c.1983T>G (p.Pro661=)
c.1974T>G (p.Pro658=)
c.1944T>G (p.Pro648=)
5g.141573840A>GCA447088229DIAPH1c.2010T>C (p.Pro670=)
c.1878T>C (p.Pro626=)
c.1983T>C (p.Pro661=)
c.1974T>C (p.Pro658=)
c.1944T>C (p.Pro648=)
 ClinVar dbSNP gnomAD v4
5g.141573840A>TCA447088228DIAPH1c.2010T>A (p.Pro670=)
c.1878T>A (p.Pro626=)
c.1983T>A (p.Pro661=)
c.1974T>A (p.Pro658=)
c.1944T>A (p.Pro648=)
5g.141573841G>ACA3479179DIAPH1c.2009C>T (p.Pro670Leu)
c.1877C>T (p.Pro626Leu)
c.1982C>T (p.Pro661Leu)
c.1973C>T (p.Pro658Leu)
c.1943C>T (p.Pro648Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573841G>CCA361519200DIAPH1c.2009C>G (p.Pro670Arg)
c.1877C>G (p.Pro626Arg)
c.1982C>G (p.Pro661Arg)
c.1973C>G (p.Pro658Arg)
c.1943C>G (p.Pro648Arg)
 gnomAD v4
5g.141573841G=CA1587247699DIAPH1c.2009C= (p.Pro670=)
c.1877C= (p.Pro626=)
c.1982C= (p.Pro661=)
c.1973C= (p.Pro658=)
c.1943C= (p.Pro648=)
5g.141573841G>TCA361519202DIAPH1c.2009C>A (p.Pro670His)
c.1877C>A (p.Pro626His)
c.1982C>A (p.Pro661His)
c.1973C>A (p.Pro658His)
c.1943C>A (p.Pro648His)
 gnomAD v4
5g.141573842G>ACA361519208DIAPH1c.2008C>T (p.Pro670Ser)
c.1876C>T (p.Pro626Ser)
c.1981C>T (p.Pro661Ser)
c.1972C>T (p.Pro658Ser)
c.1942C>T (p.Pro648Ser)
 gnomAD v4
5g.141573842G>CCA361519209DIAPH1c.2008C>G (p.Pro670Ala)
c.1876C>G (p.Pro626Ala)
c.1981C>G (p.Pro661Ala)
c.1972C>G (p.Pro658Ala)
c.1942C>G (p.Pro648Ala)
5g.141573842G>TCA361519210DIAPH1c.2008C>A (p.Pro670Thr)
c.1876C>A (p.Pro626Thr)
c.1981C>A (p.Pro661Thr)
c.1972C>A (p.Pro658Thr)
c.1942C>A (p.Pro648Thr)
5g.141573843C>ACA361519213DIAPH1c.2007G>T (p.Leu669Phe)
c.1875G>T (p.Leu625Phe)
c.1980G>T (p.Leu660Phe)
c.1971G>T (p.Leu657Phe)
c.1941G>T (p.Leu647Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573843C=CA1587247712DIAPH1c.2007G= (p.Leu669=)
c.1875G= (p.Leu625=)
c.1980G= (p.Leu660=)
c.1971G= (p.Leu657=)
c.1941G= (p.Leu647=)
5g.141573843C>GCA361519211DIAPH1c.2007G>C (p.Leu669Phe)
c.1875G>C (p.Leu625Phe)
c.1980G>C (p.Leu660Phe)
c.1971G>C (p.Leu657Phe)
c.1941G>C (p.Leu647Phe)
5g.141573843C>TCA447088234DIAPH1c.2007G>A (p.Leu669=)
c.1875G>A (p.Leu625=)
c.1980G>A (p.Leu660=)
c.1971G>A (p.Leu657=)
c.1941G>A (p.Leu647=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573844A>CCA361519224DIAPH1c.2006T>G (p.Leu669Trp)
c.1874T>G (p.Leu625Trp)
c.1979T>G (p.Leu660Trp)
c.1970T>G (p.Leu657Trp)
c.1940T>G (p.Leu647Trp)
5g.141573844A>GCA361519231DIAPH1c.2006T>C (p.Leu669Ser)
c.1874T>C (p.Leu625Ser)
c.1979T>C (p.Leu660Ser)
c.1970T>C (p.Leu657Ser)
c.1940T>C (p.Leu647Ser)
 gnomAD v4
5g.141573844A>TCA361519225DIAPH1c.2006T>A (p.Leu669Ter)
c.1874T>A (p.Leu625Ter)
c.1979T>A (p.Leu660Ter)
c.1970T>A (p.Leu657Ter)
c.1940T>A (p.Leu647Ter)
5g.141573844_141573847delinsAAAGCA1587247721DIAPH1c.2003_2006delinsCTTT (p.Ser668=)
c.1871_1874delinsCTTT (p.Ser624=)
c.1976_1979delinsCTTT (p.Ser659=)
c.1967_1970delinsCTTT (p.Ser656=)
c.1937_1940delinsCTTT (p.Ser646=)
5g.141573845A=CA1587247725DIAPH1c.2005T= (p.Leu669=)
c.1873T= (p.Leu625=)
c.1978T= (p.Leu660=)
c.1969T= (p.Leu657=)
c.1939T= (p.Leu647=)
5g.141573845A>CCA361519242DIAPH1c.2005T>G (p.Leu669Val)
c.1873T>G (p.Leu625Val)
c.1978T>G (p.Leu660Val)
c.1969T>G (p.Leu657Val)
c.1939T>G (p.Leu647Val)
5g.141573845A>GCA447088237DIAPH1c.2005T>C (p.Leu669=)
c.1873T>C (p.Leu625=)
c.1978T>C (p.Leu660=)
c.1969T>C (p.Leu657=)
c.1939T>C (p.Leu647=)
 ClinVar dbSNP gnomAD v4
5g.141573845A>TCA361519247DIAPH1c.2005T>A (p.Leu669Met)
c.1873T>A (p.Leu625Met)
c.1978T>A (p.Leu660Met)
c.1969T>A (p.Leu657Met)
c.1939T>A (p.Leu647Met)
5g.141573849_141573851delCA804796694DIAPH1c.2003_2005del (p.Ser668del)
c.1871_1873del (p.Ser624del)
c.1976_1978del (p.Ser659del)
c.1967_1969del (p.Ser656del)
c.1937_1939del (p.Ser646del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141573846A>CCA447088239DIAPH1c.2004T>G (p.Ser668=)
c.1872T>G (p.Ser624=)
c.1977T>G (p.Ser659=)
c.1968T>G (p.Ser656=)
c.1938T>G (p.Ser646=)
5g.141573846A>GCA447088240DIAPH1c.2004T>C (p.Ser668=)
c.1872T>C (p.Ser624=)
c.1977T>C (p.Ser659=)
c.1968T>C (p.Ser656=)
c.1938T>C (p.Ser646=)
 gnomAD v4
5g.141573846A>TCA447088241DIAPH1c.2004T>A (p.Ser668=)
c.1872T>A (p.Ser624=)
c.1977T>A (p.Ser659=)
c.1968T>A (p.Ser656=)
c.1938T>A (p.Ser646=)
5g.141573847G>ACA361519253DIAPH1c.2003C>T (p.Ser668Phe)
c.1871C>T (p.Ser624Phe)
c.1976C>T (p.Ser659Phe)
c.1967C>T (p.Ser656Phe)
c.1937C>T (p.Ser646Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141573847G>CCA361519258DIAPH1c.2003C>G (p.Ser668Cys)
c.1871C>G (p.Ser624Cys)
c.1976C>G (p.Ser659Cys)
c.1967C>G (p.Ser656Cys)
c.1937C>G (p.Ser646Cys)
5g.141573847G=CA1587247729DIAPH1c.2003C= (p.Ser668=)
c.1871C= (p.Ser624=)
c.1976C= (p.Ser659=)
c.1967C= (p.Ser656=)
c.1937C= (p.Ser646=)
5g.141573847G>TCA361519256DIAPH1c.2003C>A (p.Ser668Tyr)
c.1871C>A (p.Ser624Tyr)
c.1976C>A (p.Ser659Tyr)
c.1967C>A (p.Ser656Tyr)
c.1937C>A (p.Ser646Tyr)
5g.141573848A>CCA361519264DIAPH1c.2002T>G (p.Ser668Ala)
c.1870T>G (p.Ser624Ala)
c.1975T>G (p.Ser659Ala)
c.1966T>G (p.Ser656Ala)
c.1936T>G (p.Ser646Ala)
5g.141573848A>GCA361519273DIAPH1c.2002T>C (p.Ser668Pro)
c.1870T>C (p.Ser624Pro)
c.1975T>C (p.Ser659Pro)
c.1966T>C (p.Ser656Pro)
c.1936T>C (p.Ser646Pro)
5g.141573848A>TCA361519270DIAPH1c.2002T>A (p.Ser668Thr)
c.1870T>A (p.Ser624Thr)
c.1975T>A (p.Ser659Thr)
c.1966T>A (p.Ser656Thr)
c.1936T>A (p.Ser646Thr)
5g.141573849A>CCA447088254DIAPH1c.2001T>G (p.Ser667=)
c.1869T>G (p.Ser623=)
c.1974T>G (p.Ser658=)
c.1965T>G (p.Ser655=)
c.1935T>G (p.Ser645=)
5g.141573849A>GCA447088256DIAPH1c.2001T>C (p.Ser667=)
c.1869T>C (p.Ser623=)
c.1974T>C (p.Ser658=)
c.1965T>C (p.Ser655=)
c.1935T>C (p.Ser645=)
 gnomAD v4
5g.141573849A>TCA447088257DIAPH1c.2001T>A (p.Ser667=)
c.1869T>A (p.Ser623=)
c.1974T>A (p.Ser658=)
c.1965T>A (p.Ser655=)
c.1935T>A (p.Ser645=)
5g.141573850G>ACA361519282DIAPH1c.2000C>T (p.Ser667Phe)
c.1868C>T (p.Ser623Phe)
c.1973C>T (p.Ser658Phe)
c.1964C>T (p.Ser655Phe)
c.1934C>T (p.Ser645Phe)
 gnomAD v4
5g.141573850G>CCA361519285DIAPH1c.2000C>G (p.Ser667Cys)
c.1868C>G (p.Ser623Cys)
c.1973C>G (p.Ser658Cys)
c.1964C>G (p.Ser655Cys)
c.1934C>G (p.Ser645Cys)
5g.141573850G>TCA361519289DIAPH1c.2000C>A (p.Ser667Tyr)
c.1868C>A (p.Ser623Tyr)
c.1973C>A (p.Ser658Tyr)
c.1964C>A (p.Ser655Tyr)
c.1934C>A (p.Ser645Tyr)
 gnomAD v4
5g.141573851A>CCA361519293DIAPH1c.1999T>G (p.Ser667Ala)
c.1867T>G (p.Ser623Ala)
c.1972T>G (p.Ser658Ala)
c.1963T>G (p.Ser655Ala)
c.1933T>G (p.Ser645Ala)
5g.141573851A>GCA361519294DIAPH1c.1999T>C (p.Ser667Pro)
c.1867T>C (p.Ser623Pro)
c.1972T>C (p.Ser658Pro)
c.1963T>C (p.Ser655Pro)
c.1933T>C (p.Ser645Pro)
5g.141573851A>TCA361519296DIAPH1c.1999T>A (p.Ser667Thr)
c.1867T>A (p.Ser623Thr)
c.1972T>A (p.Ser658Thr)
c.1963T>A (p.Ser655Thr)
c.1933T>A (p.Ser645Thr)
 gnomAD v4
5g.141573852G>ACA447088264DIAPH1c.1998C>T (p.Pro666=)
c.1866C>T (p.Pro622=)
c.1971C>T (p.Pro657=)
c.1962C>T (p.Pro654=)
c.1932C>T (p.Pro644=)
5g.141573852G>CCA447088265DIAPH1c.1998C>G (p.Pro666=)
c.1866C>G (p.Pro622=)
c.1971C>G (p.Pro657=)
c.1962C>G (p.Pro654=)
c.1932C>G (p.Pro644=)
5g.141573852G>TCA447088267DIAPH1c.1998C>A (p.Pro666=)
c.1866C>A (p.Pro622=)
c.1971C>A (p.Pro657=)
c.1962C>A (p.Pro654=)
c.1932C>A (p.Pro644=)
 gnomAD v4
5g.141573853G>ACA361519302DIAPH1c.1997C>T (p.Pro666Leu)
c.1865C>T (p.Pro622Leu)
c.1970C>T (p.Pro657Leu)
c.1961C>T (p.Pro654Leu)
c.1931C>T (p.Pro644Leu)
 gnomAD v4
5g.141573853G>CCA361519304DIAPH1c.1997C>G (p.Pro666Arg)
c.1865C>G (p.Pro622Arg)
c.1970C>G (p.Pro657Arg)
c.1961C>G (p.Pro654Arg)
c.1931C>G (p.Pro644Arg)
 gnomAD v4
5g.141573853G>TCA361519305DIAPH1c.1997C>A (p.Pro666His)
c.1865C>A (p.Pro622His)
c.1970C>A (p.Pro657His)
c.1961C>A (p.Pro654His)
c.1931C>A (p.Pro644His)
 gnomAD v4
5g.141573854G>ACA361519309DIAPH1c.1996C>T (p.Pro666Ser)
c.1864C>T (p.Pro622Ser)
c.1969C>T (p.Pro657Ser)
c.1960C>T (p.Pro654Ser)
c.1930C>T (p.Pro644Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.141573854G>CCA361519317DIAPH1c.1996C>G (p.Pro666Ala)
c.1864C>G (p.Pro622Ala)
c.1969C>G (p.Pro657Ala)
c.1960C>G (p.Pro654Ala)
c.1930C>G (p.Pro644Ala)
5g.141573854G=CA1587247731DIAPH1c.1996C= (p.Pro666=)
c.1864C= (p.Pro622=)
c.1969C= (p.Pro657=)
c.1960C= (p.Pro654=)
c.1930C= (p.Pro644=)
5g.141573854G>TCA361519322DIAPH1c.1996C>A (p.Pro666Thr)
c.1864C>A (p.Pro622Thr)
c.1969C>A (p.Pro657Thr)
c.1960C>A (p.Pro654Thr)
c.1930C>A (p.Pro644Thr)
5g.141573855T>ACA447088270DIAPH1c.1995A>T (p.Ser665=)
c.1863A>T (p.Ser621=)
c.1968A>T (p.Ser656=)
c.1959A>T (p.Ser653=)
c.1929A>T (p.Ser643=)
5g.141573855T>CCA447088272DIAPH1c.1995A>G (p.Ser665=)
c.1863A>G (p.Ser621=)
c.1968A>G (p.Ser656=)
c.1959A>G (p.Ser653=)
c.1929A>G (p.Ser643=)
5g.141573855T>GCA447088274DIAPH1c.1995A>C (p.Ser665=)
c.1863A>C (p.Ser621=)
c.1968A>C (p.Ser656=)
c.1959A>C (p.Ser653=)
c.1929A>C (p.Ser643=)
 dbSNP gnomAD v3 gnomAD v4
5g.141573855T=CA1587247733DIAPH1c.1995A= (p.Ser665=)
c.1863A= (p.Ser621=)
c.1968A= (p.Ser656=)
c.1959A= (p.Ser653=)
c.1929A= (p.Ser643=)
5g.141573855dupCA2675691752DIAPH1c.1995dup (p.Pro666ThrfsTer21)
c.1863dup (p.Pro622ThrfsTer21)
c.1968dup (p.Pro657ThrfsTer21)
c.1959dup (p.Pro654ThrfsTer21)
c.1929dup (p.Pro644ThrfsTer21)
 gnomAD v4
5g.141573856G>ACA361519323DIAPH1c.1994C>T (p.Ser665Leu)
c.1862C>T (p.Ser621Leu)
c.1967C>T (p.Ser656Leu)
c.1958C>T (p.Ser653Leu)
c.1928C>T (p.Ser643Leu)
 dbSNP gnomAD v2 gnomAD v4
5g.141573856G>CCA361519327DIAPH1c.1994C>G (p.Ser665Ter)
c.1862C>G (p.Ser621Ter)
c.1967C>G (p.Ser656Ter)
c.1958C>G (p.Ser653Ter)
c.1928C>G (p.Ser643Ter)
 gnomAD v4
5g.141573856G=CA1587247735DIAPH1c.1994C= (p.Ser665=)
c.1862C= (p.Ser621=)
c.1967C= (p.Ser656=)
c.1958C= (p.Ser653=)
c.1928C= (p.Ser643=)
5g.141573856G>TCA361519324DIAPH1c.1994C>A (p.Ser665Ter)
c.1862C>A (p.Ser621Ter)
c.1967C>A (p.Ser656Ter)
c.1958C>A (p.Ser653Ter)
c.1928C>A (p.Ser643Ter)
5g.141573857A>CCA361519331DIAPH1c.1993T>G (p.Ser665Ala)
c.1861T>G (p.Ser621Ala)
c.1966T>G (p.Ser656Ala)
c.1957T>G (p.Ser653Ala)
c.1927T>G (p.Ser643Ala)
5g.141573857A>GCA361519332DIAPH1c.1993T>C (p.Ser665Pro)
c.1861T>C (p.Ser621Pro)
c.1966T>C (p.Ser656Pro)
c.1957T>C (p.Ser653Pro)
c.1927T>C (p.Ser643Pro)
 gnomAD v4
5g.141573857A>TCA361519335DIAPH1c.1993T>A (p.Ser665Thr)
c.1861T>A (p.Ser621Thr)
c.1966T>A (p.Ser656Thr)
c.1957T>A (p.Ser653Thr)
c.1927T>A (p.Ser643Thr)
 gnomAD v4
5g.141573858A>CCA447088277DIAPH1c.1992T>G (p.Pro664=)
c.1860T>G (p.Pro620=)
c.1965T>G (p.Pro655=)
c.1956T>G (p.Pro652=)
c.1926T>G (p.Pro642=)
5g.141573858A>GCA447088278DIAPH1c.1992T>C (p.Pro664=)
c.1860T>C (p.Pro620=)
c.1965T>C (p.Pro655=)
c.1956T>C (p.Pro652=)
c.1926T>C (p.Pro642=)
 gnomAD v4
5g.141573858A>TCA447088280DIAPH1c.1992T>A (p.Pro664=)
c.1860T>A (p.Pro620=)
c.1965T>A (p.Pro655=)
c.1956T>A (p.Pro652=)
c.1926T>A (p.Pro642=)
5g.141573858_141573859insCCCACA2675691753DIAPH1c.1992_1993insGGGT (p.Ser665GlyfsTer23)
c.1860_1861insGGGT (p.Ser621GlyfsTer23)
c.1965_1966insGGGT (p.Ser656GlyfsTer23)
c.1956_1957insGGGT (p.Ser653GlyfsTer23)
c.1926_1927insGGGT (p.Ser643GlyfsTer23)
 gnomAD v4
5g.141573859G>ACA361519359DIAPH1c.1991C>T (p.Pro664Leu)
c.1859C>T (p.Pro620Leu)
c.1964C>T (p.Pro655Leu)
c.1955C>T (p.Pro652Leu)
c.1925C>T (p.Pro642Leu)
 gnomAD v4
5g.141573859G>CCA361519364DIAPH1c.1991C>G (p.Pro664Arg)
c.1859C>G (p.Pro620Arg)
c.1964C>G (p.Pro655Arg)
c.1955C>G (p.Pro652Arg)
c.1925C>G (p.Pro642Arg)
 ClinVar dbSNP
5g.141573859G=CA1587247738DIAPH1c.1991C= (p.Pro664=)
c.1859C= (p.Pro620=)
c.1964C= (p.Pro655=)
c.1955C= (p.Pro652=)
c.1925C= (p.Pro642=)
5g.141573859G>TCA361519374DIAPH1c.1991C>A (p.Pro664His)
c.1859C>A (p.Pro620His)
c.1964C>A (p.Pro655His)
c.1955C>A (p.Pro652His)
c.1925C>A (p.Pro642His)
 gnomAD v4
5g.141573860G>ACA361519381DIAPH1c.1990C>T (p.Pro664Ser)
c.1858C>T (p.Pro620Ser)
c.1963C>T (p.Pro655Ser)
c.1954C>T (p.Pro652Ser)
c.1924C>T (p.Pro642Ser)
5g.141573860G>CCA361519382DIAPH1c.1990C>G (p.Pro664Ala)
c.1858C>G (p.Pro620Ala)
c.1963C>G (p.Pro655Ala)
c.1954C>G (p.Pro652Ala)
c.1924C>G (p.Pro642Ala)
5g.141573860G>TCA361519383DIAPH1c.1990C>A (p.Pro664Thr)
c.1858C>A (p.Pro620Thr)
c.1963C>A (p.Pro655Thr)
c.1954C>A (p.Pro652Thr)
c.1924C>A (p.Pro642Thr)
 gnomAD v4
5g.141573861_141573864delCA2675691754DIAPH1c.1987_1990del (p.Ile663LeufsTer?)
c.1855_1858del (p.Ile619LeufsTer?)
c.1960_1963del (p.Ile654LeufsTer?)
c.1951_1954del (p.Ile651LeufsTer?)
c.1921_1924del (p.Ile641LeufsTer?)
 gnomAD v4
5g.141573861G>ACA447088286DIAPH1c.1989C>T (p.Ile663=)
c.1857C>T (p.Ile619=)
c.1962C>T (p.Ile654=)
c.1953C>T (p.Ile651=)
c.1923C>T (p.Ile641=)
5g.141573861G>CCA361519387DIAPH1c.1989C>G (p.Ile663Met)
c.1857C>G (p.Ile619Met)
c.1962C>G (p.Ile654Met)
c.1953C>G (p.Ile651Met)
c.1923C>G (p.Ile641Met)
 dbSNP gnomAD v4
5g.141573861G=CA1587247740DIAPH1c.1989C= (p.Ile663=)
c.1857C= (p.Ile619=)
c.1962C= (p.Ile654=)
c.1953C= (p.Ile651=)
c.1923C= (p.Ile641=)
5g.141573861G>TCA447088284DIAPH1c.1989C>A (p.Ile663=)
c.1857C>A (p.Ile619=)
c.1962C>A (p.Ile654=)
c.1953C>A (p.Ile651=)
c.1923C>A (p.Ile641=)
 gnomAD v4
5g.141573862A>CCA361519400DIAPH1c.1988T>G (p.Ile663Ser)
c.1856T>G (p.Ile619Ser)
c.1961T>G (p.Ile654Ser)
c.1952T>G (p.Ile651Ser)
c.1922T>G (p.Ile641Ser)
5g.141573862A>GCA361519391DIAPH1c.1988T>C (p.Ile663Thr)
c.1856T>C (p.Ile619Thr)
c.1961T>C (p.Ile654Thr)
c.1952T>C (p.Ile651Thr)
c.1922T>C (p.Ile641Thr)
5g.141573862A>TCA361519393DIAPH1c.1988T>A (p.Ile663Asn)
c.1856T>A (p.Ile619Asn)
c.1961T>A (p.Ile654Asn)
c.1952T>A (p.Ile651Asn)
c.1922T>A (p.Ile641Asn)
5g.141573863T>ACA361519405DIAPH1c.1987A>T (p.Ile663Phe)
c.1855A>T (p.Ile619Phe)
c.1960A>T (p.Ile654Phe)
c.1951A>T (p.Ile651Phe)
c.1921A>T (p.Ile641Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.141573863T>CCA361519406DIAPH1c.1987A>G (p.Ile663Val)
c.1855A>G (p.Ile619Val)
c.1960A>G (p.Ile654Val)
c.1951A>G (p.Ile651Val)
c.1921A>G (p.Ile641Val)
5g.141573863T>GCA361519411DIAPH1c.1987A>C (p.Ile663Leu)
c.1855A>C (p.Ile619Leu)
c.1960A>C (p.Ile654Leu)
c.1951A>C (p.Ile651Leu)
c.1921A>C (p.Ile641Leu)
 gnomAD v3 gnomAD v4
5g.141573863T=CA1587247745DIAPH1c.1987A= (p.Ile663=)
c.1855A= (p.Ile619=)
c.1960A= (p.Ile654=)
c.1951A= (p.Ile651=)
c.1921A= (p.Ile641=)
5g.141573864G>ACA3479180DIAPH1c.1986C>T (p.Gly662=)
c.1854C>T (p.Gly618=)
c.1959C>T (p.Gly653=)
c.1950C>T (p.Gly650=)
c.1920C>T (p.Gly640=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.141573864G>CCA447088295DIAPH1c.1986C>G (p.Gly662=)
c.1854C>G (p.Gly618=)
c.1959C>G (p.Gly653=)
c.1950C>G (p.Gly650=)
c.1920C>G (p.Gly640=)
 gnomAD v4
5g.141573864G=CA1587247748DIAPH1c.1986C= (p.Gly662=)
c.1854C= (p.Gly618=)
c.1959C= (p.Gly653=)
c.1950C= (p.Gly650=)
c.1920C= (p.Gly640=)
5g.141573864G>TCA447088292DIAPH1c.1986C>A (p.Gly662=)
c.1854C>A (p.Gly618=)
c.1959C>A (p.Gly653=)
c.1950C>A (p.Gly650=)
c.1920C>A (p.Gly640=)
 gnomAD v4
5g.141573865C>ACA361519418DIAPH1c.1985G>T (p.Gly662Val)
c.1853G>T (p.Gly618Val)
c.1958G>T (p.Gly653Val)
c.1949G>T (p.Gly650Val)
c.1919G>T (p.Gly640Val)
 gnomAD v4
5g.141573865C=CA1587247751DIAPH1c.1985G= (p.Gly662=)
c.1853G= (p.Gly618=)
c.1958G= (p.Gly653=)
c.1949G= (p.Gly650=)
c.1919G= (p.Gly640=)
5g.141573865C>GCA361519422DIAPH1c.1985G>C (p.Gly662Ala)
c.1853G>C (p.Gly618Ala)
c.1958G>C (p.Gly653Ala)
c.1949G>C (p.Gly650Ala)
c.1919G>C (p.Gly640Ala)
5g.141573865C>TCA3479181DIAPH1c.1985G>A (p.Gly662Asp)
c.1853G>A (p.Gly618Asp)
c.1958G>A (p.Gly653Asp)
c.1949G>A (p.Gly650Asp)
c.1919G>A (p.Gly640Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573866C>ACA3479182DIAPH1c.1984G>T (p.Gly662Cys)
c.1852G>T (p.Gly618Cys)
c.1957G>T (p.Gly653Cys)
c.1948G>T (p.Gly650Cys)
c.1918G>T (p.Gly640Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.141573866C=CA1587247756DIAPH1c.1984G= (p.Gly662=)
c.1852G= (p.Gly618=)
c.1957G= (p.Gly653=)
c.1948G= (p.Gly650=)
c.1918G= (p.Gly640=)
5g.141573866C>GCA361519435DIAPH1c.1984G>C (p.Gly662Arg)
c.1852G>C (p.Gly618Arg)
c.1957G>C (p.Gly653Arg)
c.1948G>C (p.Gly650Arg)
c.1918G>C (p.Gly640Arg)
5g.141573866C>TCA361519443DIAPH1c.1984G>A (p.Gly662Ser)
c.1852G>A (p.Gly618Ser)
c.1957G>A (p.Gly653Ser)
c.1948G>A (p.Gly650Ser)
c.1918G>A (p.Gly640Ser)
5g.141573867A>CCA447088299DIAPH1c.1983T>G (p.Val661=)
c.1851T>G (p.Val617=)
c.1956T>G (p.Val652=)
c.1947T>G (p.Val649=)
c.1917T>G (p.Val639=)
5g.141573867A>GCA447088301DIAPH1c.1983T>C (p.Val661=)
c.1851T>C (p.Val617=)
c.1956T>C (p.Val652=)
c.1947T>C (p.Val649=)
c.1917T>C (p.Val639=)
5g.141573867A>TCA447088300DIAPH1c.1983T>A (p.Val661=)
c.1851T>A (p.Val617=)
c.1956T>A (p.Val652=)
c.1947T>A (p.Val649=)
c.1917T>A (p.Val639=)
5g.141573868A>CCA361519462DIAPH1c.1982T>G (p.Val661Gly)
c.1850T>G (p.Val617Gly)
c.1955T>G (p.Val652Gly)
c.1946T>G (p.Val649Gly)
c.1916T>G (p.Val639Gly)
5g.141573868A>GCA361519452DIAPH1c.1982T>C (p.Val661Ala)
c.1850T>C (p.Val617Ala)
c.1955T>C (p.Val652Ala)
c.1946T>C (p.Val649Ala)
c.1916T>C (p.Val639Ala)
5g.141573868A>TCA361519458DIAPH1c.1982T>A (p.Val661Asp)
c.1850T>A (p.Val617Asp)
c.1955T>A (p.Val652Asp)
c.1946T>A (p.Val649Asp)
c.1916T>A (p.Val639Asp)
5g.141573869C>ACA361519470DIAPH1c.1981G>T (p.Val661Phe)
c.1849G>T (p.Val617Phe)
c.1954G>T (p.Val652Phe)
c.1945G>T (p.Val649Phe)
c.1915G>T (p.Val639Phe)
 gnomAD v4
5g.141573869C>GCA361519473DIAPH1c.1981G>C (p.Val661Leu)
c.1849G>C (p.Val617Leu)
c.1954G>C (p.Val652Leu)
c.1945G>C (p.Val649Leu)
c.1915G>C (p.Val639Leu)
5g.141573869C>TCA361519474DIAPH1c.1981G>A (p.Val661Ile)
c.1849G>A (p.Val617Ile)
c.1954G>A (p.Val652Ile)
c.1945G>A (p.Val649Ile)
c.1915G>A (p.Val639Ile)
 gnomAD v4
5g.141573870A=CA1587247765DIAPH1c.1980T= (p.Gly660=)
c.1848T= (p.Gly616=)
c.1953T= (p.Gly651=)
c.1944T= (p.Gly648=)
c.1914T= (p.Gly638=)
5g.141573870A>CCA447088305DIAPH1c.1980T>G (p.Gly660=)
c.1848T>G (p.Gly616=)
c.1953T>G (p.Gly651=)
c.1944T>G (p.Gly648=)
c.1914T>G (p.Gly638=)
 dbSNP
5g.141573870A>GCA447088308DIAPH1c.1980T>C (p.Gly660=)
c.1848T>C (p.Gly616=)
c.1953T>C (p.Gly651=)
c.1944T>C (p.Gly648=)
c.1914T>C (p.Gly638=)
5g.141573870A>TCA447088311DIAPH1c.1980T>A (p.Gly660=)
c.1848T>A (p.Gly616=)
c.1953T>A (p.Gly651=)
c.1944T>A (p.Gly648=)
c.1914T>A (p.Gly638=)
 dbSNP gnomAD v3 gnomAD v4
5g.141573871C>ACA3479183DIAPH1c.1979G>T (p.Gly660Val)
c.1847G>T (p.Gly616Val)
c.1952G>T (p.Gly651Val)
c.1943G>T (p.Gly648Val)
c.1913G>T (p.Gly638Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573871C=CA1587247768DIAPH1c.1979G= (p.Gly660=)
c.1847G= (p.Gly616=)
c.1952G= (p.Gly651=)
c.1943G= (p.Gly648=)
c.1913G= (p.Gly638=)
5g.141573871C>GCA361519477DIAPH1c.1979G>C (p.Gly660Ala)
c.1847G>C (p.Gly616Ala)
c.1952G>C (p.Gly651Ala)
c.1943G>C (p.Gly648Ala)
c.1913G>C (p.Gly638Ala)
 gnomAD v4
5g.141573871C>TCA361519500DIAPH1c.1979G>A (p.Gly660Asp)
c.1847G>A (p.Gly616Asp)
c.1952G>A (p.Gly651Asp)
c.1943G>A (p.Gly648Asp)
c.1913G>A (p.Gly638Asp)
 dbSNP gnomAD v2 gnomAD v4
5g.141573872C>ACA361519540DIAPH1c.1978G>T (p.Gly660Cys)
c.1846G>T (p.Gly616Cys)
c.1951G>T (p.Gly651Cys)
c.1942G>T (p.Gly648Cys)
c.1912G>T (p.Gly638Cys)
 ClinVar gnomAD v4
5g.141573872C>GCA361519541DIAPH1c.1978G>C (p.Gly660Arg)
c.1846G>C (p.Gly616Arg)
c.1951G>C (p.Gly651Arg)
c.1942G>C (p.Gly648Arg)
c.1912G>C (p.Gly638Arg)
5g.141573872C>TCA361519542DIAPH1c.1978G>A (p.Gly660Ser)
c.1846G>A (p.Gly616Ser)
c.1951G>A (p.Gly651Ser)
c.1942G>A (p.Gly648Ser)
c.1912G>A (p.Gly638Ser)
 ClinVar gnomAD v4
5g.141573873C>ACA361519543DIAPH1c.1977G>T (p.Glu659Asp)
c.1845G>T (p.Glu615Asp)
c.1950G>T (p.Glu650Asp)
c.1941G>T (p.Glu647Asp)
c.1911G>T (p.Glu637Asp)
 gnomAD v4
5g.141573873C>GCA361519546DIAPH1c.1977G>C (p.Glu659Asp)
c.1845G>C (p.Glu615Asp)
c.1950G>C (p.Glu650Asp)
c.1941G>C (p.Glu647Asp)
c.1911G>C (p.Glu637Asp)
5g.141573873C>TCA447088316DIAPH1c.1977G>A (p.Glu659=)
c.1845G>A (p.Glu615=)
c.1950G>A (p.Glu650=)
c.1941G>A (p.Glu647=)
c.1911G>A (p.Glu637=)
 gnomAD v4
5g.141573874T>ACA361519560DIAPH1c.1976A>T (p.Glu659Val)
c.1844A>T (p.Glu615Val)
c.1949A>T (p.Glu650Val)
c.1940A>T (p.Glu647Val)
c.1910A>T (p.Glu637Val)
 gnomAD v4
5g.141573874T>CCA361519565DIAPH1c.1976A>G (p.Glu659Gly)
c.1844A>G (p.Glu615Gly)
c.1949A>G (p.Glu650Gly)
c.1940A>G (p.Glu647Gly)
c.1910A>G (p.Glu637Gly)
 gnomAD v4
5g.141573874T>GCA361519556DIAPH1c.1976A>C (p.Glu659Ala)
c.1844A>C (p.Glu615Ala)
c.1949A>C (p.Glu650Ala)
c.1940A>C (p.Glu647Ala)
c.1910A>C (p.Glu637Ala)
5g.141573874_141573982delinsTCAGGCAAAGGAGGGGGTGGAGGGATGGTAGCATCCCCAGACAAAGGAGGGGGTGGAGAGATAGCAGTACCTCCAGGTAAAGAAGGGGGTGAGGAGATGCAAACACCCCCA1587247773DIAPH1c.1868_1976delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly623=)
c.1736_1844delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly579=)
c.1841_1949delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly614=)
c.1832_1940delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly611=)
c.1802_1910delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly601=)
5g.141573875C>ACA361519570DIAPH1c.1975G>T (p.Glu659Ter)
c.1843G>T (p.Glu615Ter)
c.1948G>T (p.Glu650Ter)
c.1939G>T (p.Glu647Ter)
c.1909G>T (p.Glu637Ter)
 gnomAD v4
5g.141573875C>GCA361519580DIAPH1c.1975G>C (p.Glu659Gln)
c.1843G>C (p.Glu615Gln)
c.1948G>C (p.Glu650Gln)
c.1939G>C (p.Glu647Gln)
c.1909G>C (p.Glu637Gln)
 gnomAD v4
5g.141573875C>TCA361519581DIAPH1c.1975G>A (p.Glu659Lys)
c.1843G>A (p.Glu615Lys)
c.1948G>A (p.Glu650Lys)
c.1939G>A (p.Glu647Lys)
c.1909G>A (p.Glu637Lys)
 gnomAD v4
5g.141573888_141573995delCA1082278862DIAPH1c.1868_1975del (p.Gly623_Pro658del)
c.1736_1843del (p.Gly579_Pro614del)
c.1841_1948del (p.Gly614_Pro649del)
c.1832_1939del (p.Gly611_Pro646del)
c.1802_1909del (p.Gly601_Pro636del)
 dbSNP gnomAD v3 gnomAD v4
5g.141573876A=CA1587247777DIAPH1c.1974T= (p.Pro658=)
c.1842T= (p.Pro614=)
c.1947T= (p.Pro649=)
c.1938T= (p.Pro646=)
c.1908T= (p.Pro636=)
5g.141573876A>CCA447088322DIAPH1c.1974T>G (p.Pro658=)
c.1842T>G (p.Pro614=)
c.1947T>G (p.Pro649=)
c.1938T>G (p.Pro646=)
c.1908T>G (p.Pro636=)
5g.141573876A>GCA3479184DIAPH1c.1974T>C (p.Pro658=)
c.1842T>C (p.Pro614=)
c.1947T>C (p.Pro649=)
c.1938T>C (p.Pro646=)
c.1908T>C (p.Pro636=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573876A>TCA447088323DIAPH1c.1974T>A (p.Pro658=)
c.1842T>A (p.Pro614=)
c.1947T>A (p.Pro649=)
c.1938T>A (p.Pro646=)
c.1908T>A (p.Pro636=)
5g.141573877G>ACA361519585DIAPH1c.1973C>T (p.Pro658Leu)
c.1841C>T (p.Pro614Leu)
c.1946C>T (p.Pro649Leu)
c.1937C>T (p.Pro646Leu)
c.1907C>T (p.Pro636Leu)
5g.141573877G>CCA361519595DIAPH1c.1973C>G (p.Pro658Arg)
c.1841C>G (p.Pro614Arg)
c.1946C>G (p.Pro649Arg)
c.1937C>G (p.Pro646Arg)
c.1907C>G (p.Pro636Arg)
5g.141573877G>TCA361519598DIAPH1c.1973C>A (p.Pro658His)
c.1841C>A (p.Pro614His)
c.1946C>A (p.Pro649His)
c.1937C>A (p.Pro646His)
c.1907C>A (p.Pro636His)
 gnomAD v4
5g.141573877_141573879delinsGGCCA1587247778DIAPH1c.1971_1973delinsGCC (p.Leu657=)
c.1839_1841delinsGCC (p.Leu613=)
c.1944_1946delinsGCC (p.Leu648=)
c.1935_1937delinsGCC (p.Leu645=)
c.1905_1907delinsGCC (p.Leu635=)
5g.141573878G>ACA361519605DIAPH1c.1972C>T (p.Pro658Ser)
c.1840C>T (p.Pro614Ser)
c.1945C>T (p.Pro649Ser)
c.1936C>T (p.Pro646Ser)
c.1906C>T (p.Pro636Ser)
 gnomAD v4
5g.141573878G>CCA361519610DIAPH1c.1972C>G (p.Pro658Ala)
c.1840C>G (p.Pro614Ala)
c.1945C>G (p.Pro649Ala)
c.1936C>G (p.Pro646Ala)
c.1906C>G (p.Pro636Ala)
5g.141573878G>TCA361519612DIAPH1c.1972C>A (p.Pro658Thr)
c.1840C>A (p.Pro614Thr)
c.1945C>A (p.Pro649Thr)
c.1936C>A (p.Pro646Thr)
c.1906C>A (p.Pro636Thr)
 gnomAD v4
5g.141573878_141573879delinsACA16618132DIAPH1c.1971_1972delinsT (p.Leu657PhefsTer?)
c.1839_1840delinsT (p.Leu613PhefsTer?)
c.1944_1945delinsT (p.Leu648PhefsTer?)
c.1935_1936delinsT (p.Leu645PhefsTer?)
c.1905_1906delinsT (p.Leu635PhefsTer?)
 ClinVar dbSNP
5g.141573879C>ACA361519615DIAPH1c.1971G>T (p.Leu657Phe)
c.1839G>T (p.Leu613Phe)
c.1944G>T (p.Leu648Phe)
c.1935G>T (p.Leu645Phe)
c.1905G>T (p.Leu635Phe)
 gnomAD v4
5g.141573879C>GCA361519616DIAPH1c.1971G>C (p.Leu657Phe)
c.1839G>C (p.Leu613Phe)
c.1944G>C (p.Leu648Phe)
c.1935G>C (p.Leu645Phe)
c.1905G>C (p.Leu635Phe)
5g.141573879C>TCA447088330DIAPH1c.1971G>A (p.Leu657=)
c.1839G>A (p.Leu613=)
c.1944G>A (p.Leu648=)
c.1935G>A (p.Leu645=)
c.1905G>A (p.Leu635=)
5g.141573896_141573931delCA1082278866DIAPH1c.1936_1971del (p.Ser646_Leu657del)
c.1804_1839del (p.Ser602_Leu613del)
c.1909_1944del (p.Ser637_Leu648del)
c.1900_1935del (p.Ser634_Leu645del)
c.1870_1905del (p.Ser624_Leu635del)
 ClinVar gnomAD v3 gnomAD v4
5g.141573880A>CCA361519626DIAPH1c.1970T>G (p.Leu657Trp)
c.1838T>G (p.Leu613Trp)
c.1943T>G (p.Leu648Trp)
c.1934T>G (p.Leu645Trp)
c.1904T>G (p.Leu635Trp)
5g.141573880A>GCA361519620DIAPH1c.1970T>C (p.Leu657Ser)
c.1838T>C (p.Leu613Ser)
c.1943T>C (p.Leu648Ser)
c.1934T>C (p.Leu645Ser)
c.1904T>C (p.Leu635Ser)
5g.141573880A>TCA361519617DIAPH1c.1970T>A (p.Leu657Ter)
c.1838T>A (p.Leu613Ter)
c.1943T>A (p.Leu648Ter)
c.1934T>A (p.Leu645Ter)
c.1904T>A (p.Leu635Ter)
5g.141573881A>CCA361519627DIAPH1c.1969T>G (p.Leu657Val)
c.1837T>G (p.Leu613Val)
c.1942T>G (p.Leu648Val)
c.1933T>G (p.Leu645Val)
c.1903T>G (p.Leu635Val)
5g.141573881A>GCA447088332DIAPH1c.1969T>C (p.Leu657=)
c.1837T>C (p.Leu613=)
c.1942T>C (p.Leu648=)
c.1933T>C (p.Leu645=)
c.1903T>C (p.Leu635=)
 gnomAD v4
5g.141573881A>TCA361519628DIAPH1c.1969T>A (p.Leu657Met)
c.1837T>A (p.Leu613Met)
c.1942T>A (p.Leu648Met)
c.1933T>A (p.Leu645Met)
c.1903T>A (p.Leu635Met)
5g.141573882A>CCA447088335DIAPH1c.1968T>G (p.Pro656=)
c.1836T>G (p.Pro612=)
c.1941T>G (p.Pro647=)
c.1932T>G (p.Pro644=)
c.1902T>G (p.Pro634=)
5g.141573882A>GCA447088342DIAPH1c.1968T>C (p.Pro656=)
c.1836T>C (p.Pro612=)
c.1941T>C (p.Pro647=)
c.1932T>C (p.Pro644=)
c.1902T>C (p.Pro634=)
5g.141573882A>TCA447088338DIAPH1c.1968T>A (p.Pro656=)
c.1836T>A (p.Pro612=)
c.1941T>A (p.Pro647=)
c.1932T>A (p.Pro644=)
c.1902T>A (p.Pro634=)
5g.141573883G>ACA361519630DIAPH1c.1967C>T (p.Pro656Leu)
c.1835C>T (p.Pro612Leu)
c.1940C>T (p.Pro647Leu)
c.1931C>T (p.Pro644Leu)
c.1901C>T (p.Pro634Leu)
 ClinVar dbSNP gnomAD v4
5g.141573883G>CCA361519634DIAPH1c.1967C>G (p.Pro656Arg)
c.1835C>G (p.Pro612Arg)
c.1940C>G (p.Pro647Arg)
c.1931C>G (p.Pro644Arg)
c.1901C>G (p.Pro634Arg)
5g.141573883G=CA1587247785DIAPH1c.1967C= (p.Pro656=)
c.1835C= (p.Pro612=)
c.1940C= (p.Pro647=)
c.1931C= (p.Pro644=)
c.1901C= (p.Pro634=)
5g.141573883G>TCA361519636DIAPH1c.1967C>A (p.Pro656His)
c.1835C>A (p.Pro612His)
c.1940C>A (p.Pro647His)
c.1931C>A (p.Pro644His)
c.1901C>A (p.Pro634His)
 gnomAD v4
5g.141573884G>ACA361519637DIAPH1c.1966C>T (p.Pro656Ser)
c.1834C>T (p.Pro612Ser)
c.1939C>T (p.Pro647Ser)
c.1930C>T (p.Pro644Ser)
c.1900C>T (p.Pro634Ser)
 gnomAD v4
5g.141573884G>CCA361519638DIAPH1c.1966C>G (p.Pro656Ala)
c.1834C>G (p.Pro612Ala)
c.1939C>G (p.Pro647Ala)
c.1930C>G (p.Pro644Ala)
c.1900C>G (p.Pro634Ala)
5g.141573884G>TCA361519639DIAPH1c.1966C>A (p.Pro656Thr)
c.1834C>A (p.Pro612Thr)
c.1939C>A (p.Pro647Thr)
c.1930C>A (p.Pro644Thr)
c.1900C>A (p.Pro634Thr)
 COSMIC
5g.141573885A=CA1587247789DIAPH1c.1965T= (p.Pro655=)
c.1833T= (p.Pro611=)
c.1938T= (p.Pro646=)
c.1929T= (p.Pro643=)
c.1899T= (p.Pro633=)
5g.141573885A>CCA447088344DIAPH1c.1965T>G (p.Pro655=)
c.1833T>G (p.Pro611=)
c.1938T>G (p.Pro646=)
c.1929T>G (p.Pro643=)
c.1899T>G (p.Pro633=)
5g.141573885A>GCA447088345DIAPH1c.1965T>C (p.Pro655=)
c.1833T>C (p.Pro611=)
c.1938T>C (p.Pro646=)
c.1929T>C (p.Pro643=)
c.1899T>C (p.Pro633=)
 dbSNP gnomAD v3 gnomAD v4
5g.141573885A>TCA447088346DIAPH1c.1965T>A (p.Pro655=)
c.1833T>A (p.Pro611=)
c.1938T>A (p.Pro646=)
c.1929T>A (p.Pro643=)
c.1899T>A (p.Pro633=)
5g.141573886G>ACA361519642DIAPH1c.1964C>T (p.Pro655Leu)
c.1832C>T (p.Pro611Leu)
c.1937C>T (p.Pro646Leu)
c.1928C>T (p.Pro643Leu)
c.1898C>T (p.Pro633Leu)
5g.141573886G>CCA3479185DIAPH1c.1964C>G (p.Pro655Arg)
c.1832C>G (p.Pro611Arg)
c.1937C>G (p.Pro646Arg)
c.1928C>G (p.Pro643Arg)
c.1898C>G (p.Pro633Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573886G=CA1587247796DIAPH1c.1964C= (p.Pro655=)
c.1832C= (p.Pro611=)
c.1937C= (p.Pro646=)
c.1928C= (p.Pro643=)
c.1898C= (p.Pro633=)
5g.141573886G>TCA10620385DIAPH1c.1964C>A (p.Pro655His)
c.1832C>A (p.Pro611His)
c.1937C>A (p.Pro646His)
c.1928C>A (p.Pro643His)
c.1898C>A (p.Pro633His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573890delCA2675691755DIAPH1c.1964del (p.Pro655LeufsTer?)
c.1832del (p.Pro611LeufsTer?)
c.1937del (p.Pro646LeufsTer?)
c.1928del (p.Pro643LeufsTer?)
c.1898del (p.Pro633LeufsTer?)
 dbSNP gnomAD v4
5g.141573888_141573890delCA2675691756DIAPH1c.1962_1964del (p.Pro655del)
c.1830_1832del (p.Pro611del)
c.1935_1937del (p.Pro646del)
c.1926_1928del (p.Pro643del)
c.1896_1898del (p.Pro633del)
 gnomAD v4
5g.141573887G>ACA361519647DIAPH1c.1963C>T (p.Pro655Ser)
c.1831C>T (p.Pro611Ser)
c.1936C>T (p.Pro646Ser)
c.1927C>T (p.Pro643Ser)
c.1897C>T (p.Pro633Ser)
 gnomAD v4
5g.141573887G>CCA3479186DIAPH1c.1963C>G (p.Pro655Ala)
c.1831C>G (p.Pro611Ala)
c.1936C>G (p.Pro646Ala)
c.1927C>G (p.Pro643Ala)
c.1897C>G (p.Pro633Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573887G=CA1587247815DIAPH1c.1963C= (p.Pro655=)
c.1831C= (p.Pro611=)
c.1936C= (p.Pro646=)
c.1927C= (p.Pro643=)
c.1897C= (p.Pro633=)
5g.141573887G>TCA361519651DIAPH1c.1963C>A (p.Pro655Thr)
c.1831C>A (p.Pro611Thr)
c.1936C>A (p.Pro646Thr)
c.1927C>A (p.Pro643Thr)
c.1897C>A (p.Pro633Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573888G>ACA447088356DIAPH1c.1962C>T (p.Pro654=)
c.1830C>T (p.Pro610=)
c.1935C>T (p.Pro645=)
c.1926C>T (p.Pro642=)
c.1896C>T (p.Pro632=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573888G>CCA447088354DIAPH1c.1962C>G (p.Pro654=)
c.1830C>G (p.Pro610=)
c.1935C>G (p.Pro645=)
c.1926C>G (p.Pro642=)
c.1896C>G (p.Pro632=)
 ClinVar
5g.141573888G=CA1587247823DIAPH1c.1962C= (p.Pro654=)
c.1830C= (p.Pro610=)
c.1935C= (p.Pro645=)
c.1926C= (p.Pro642=)
c.1896C= (p.Pro632=)
5g.141573888G>TCA447088355DIAPH1c.1962C>A (p.Pro654=)
c.1830C>A (p.Pro610=)
c.1935C>A (p.Pro645=)
c.1926C>A (p.Pro642=)
c.1896C>A (p.Pro632=)
 gnomAD v4
5g.141573889G>ACA361519657DIAPH1c.1961C>T (p.Pro654Leu)
c.1829C>T (p.Pro610Leu)
c.1934C>T (p.Pro645Leu)
c.1925C>T (p.Pro642Leu)
c.1895C>T (p.Pro632Leu)
 dbSNP gnomAD v2 gnomAD v4
5g.141573889G>CCA361519661DIAPH1c.1961C>G (p.Pro654Arg)
c.1829C>G (p.Pro610Arg)
c.1934C>G (p.Pro645Arg)
c.1925C>G (p.Pro642Arg)
c.1895C>G (p.Pro632Arg)
5g.141573889G=CA1587247826DIAPH1c.1961C= (p.Pro654=)
c.1829C= (p.Pro610=)
c.1934C= (p.Pro645=)
c.1925C= (p.Pro642=)
c.1895C= (p.Pro632=)
5g.141573889G>TCA361519655DIAPH1c.1961C>A (p.Pro654His)
c.1829C>A (p.Pro610His)
c.1934C>A (p.Pro645His)
c.1925C>A (p.Pro642His)
c.1895C>A (p.Pro632His)
 gnomAD v4
5g.141573890G>ACA128437185DIAPH1c.1960C>T (p.Pro654Ser)
c.1828C>T (p.Pro610Ser)
c.1933C>T (p.Pro645Ser)
c.1924C>T (p.Pro642Ser)
c.1894C>T (p.Pro632Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141573890G>CCA361519669DIAPH1c.1960C>G (p.Pro654Ala)
c.1828C>G (p.Pro610Ala)
c.1933C>G (p.Pro645Ala)
c.1924C>G (p.Pro642Ala)
c.1894C>G (p.Pro632Ala)
5g.141573890G=CA1587247831DIAPH1c.1960C= (p.Pro654=)
c.1828C= (p.Pro610=)
c.1933C= (p.Pro645=)
c.1924C= (p.Pro642=)
c.1894C= (p.Pro632=)
5g.141573890G>TCA361519673DIAPH1c.1960C>A (p.Pro654Thr)
c.1828C>A (p.Pro610Thr)
c.1933C>A (p.Pro645Thr)
c.1924C>A (p.Pro642Thr)
c.1894C>A (p.Pro632Thr)
 gnomAD v4
5g.141573891T>ACA447088361DIAPH1c.1959A>T (p.Pro653=)
c.1827A>T (p.Pro609=)
c.1932A>T (p.Pro644=)
c.1923A>T (p.Pro641=)
c.1893A>T (p.Pro631=)
 gnomAD v3 gnomAD v4
5g.141573891T>CCA447088364DIAPH1c.1959A>G (p.Pro653=)
c.1827A>G (p.Pro609=)
c.1932A>G (p.Pro644=)
c.1923A>G (p.Pro641=)
c.1893A>G (p.Pro631=)
5g.141573891T>GCA447088366DIAPH1c.1959A>C (p.Pro653=)
c.1827A>C (p.Pro609=)
c.1932A>C (p.Pro644=)
c.1923A>C (p.Pro641=)
c.1893A>C (p.Pro631=)
 dbSNP gnomAD v3 gnomAD v4
5g.141573891T=CA1587247834DIAPH1c.1959A= (p.Pro653=)
c.1827A= (p.Pro609=)
c.1932A= (p.Pro644=)
c.1923A= (p.Pro641=)
c.1893A= (p.Pro631=)
5g.141573892G>ACA361519677DIAPH1c.1958C>T (p.Pro653Leu)
c.1826C>T (p.Pro609Leu)
c.1931C>T (p.Pro644Leu)
c.1922C>T (p.Pro641Leu)
c.1892C>T (p.Pro631Leu)
 dbSNP gnomAD v4
5g.141573892G>CCA361519692DIAPH1c.1958C>G (p.Pro653Arg)
c.1826C>G (p.Pro609Arg)
c.1931C>G (p.Pro644Arg)
c.1922C>G (p.Pro641Arg)
c.1892C>G (p.Pro631Arg)
5g.141573892G=CA1587247838DIAPH1c.1958C= (p.Pro653=)
c.1826C= (p.Pro609=)
c.1931C= (p.Pro644=)
c.1922C= (p.Pro641=)
c.1892C= (p.Pro631=)
5g.141573892G>TCA361519695DIAPH1c.1958C>A (p.Pro653Gln)
c.1826C>A (p.Pro609Gln)
c.1931C>A (p.Pro644Gln)
c.1922C>A (p.Pro641Gln)
c.1892C>A (p.Pro631Gln)
 gnomAD v4
5g.141573897_141573995delCA2675691757DIAPH1c.1860_1958del (p.Leu621_Pro653del)
c.1728_1826del (p.Leu577_Pro609del)
c.1833_1931del (p.Leu612_Pro644del)
c.1824_1922del (p.Leu609_Pro641del)
c.1794_1892del (p.Leu599_Pro631del)
 gnomAD v4
5g.141573893G>ACA361519698DIAPH1c.1957C>T (p.Pro653Ser)
c.1825C>T (p.Pro609Ser)
c.1930C>T (p.Pro644Ser)
c.1921C>T (p.Pro641Ser)
c.1891C>T (p.Pro631Ser)
 gnomAD v4
5g.141573893G>CCA361519701DIAPH1c.1957C>G (p.Pro653Ala)
c.1825C>G (p.Pro609Ala)
c.1930C>G (p.Pro644Ala)
c.1921C>G (p.Pro641Ala)
c.1891C>G (p.Pro631Ala)
5g.141573893G>TCA361519704DIAPH1c.1957C>A (p.Pro653Thr)
c.1825C>A (p.Pro609Thr)
c.1930C>A (p.Pro644Thr)
c.1921C>A (p.Pro641Thr)
c.1891C>A (p.Pro631Thr)
 gnomAD v4
5g.141573894A>CCA447088371DIAPH1c.1956T>G (p.Pro652=)
c.1824T>G (p.Pro608=)
c.1929T>G (p.Pro643=)
c.1920T>G (p.Pro640=)
c.1890T>G (p.Pro630=)
5g.141573894A>GCA447088369DIAPH1c.1956T>C (p.Pro652=)
c.1824T>C (p.Pro608=)
c.1929T>C (p.Pro643=)
c.1920T>C (p.Pro640=)
c.1890T>C (p.Pro630=)
 gnomAD v4
5g.141573894A>TCA447088370DIAPH1c.1956T>A (p.Pro652=)
c.1824T>A (p.Pro608=)
c.1929T>A (p.Pro643=)
c.1920T>A (p.Pro640=)
c.1890T>A (p.Pro630=)
 gnomAD v4
5g.141573895G>ACA361519722DIAPH1c.1955C>T (p.Pro652Leu)
c.1823C>T (p.Pro608Leu)
c.1928C>T (p.Pro643Leu)
c.1919C>T (p.Pro640Leu)
c.1889C>T (p.Pro630Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.141573895G>CCA361519727DIAPH1c.1955C>G (p.Pro652Arg)
c.1823C>G (p.Pro608Arg)
c.1928C>G (p.Pro643Arg)
c.1919C>G (p.Pro640Arg)
c.1889C>G (p.Pro630Arg)
5g.141573895G=CA1587247842DIAPH1c.1955C= (p.Pro652=)
c.1823C= (p.Pro608=)
c.1928C= (p.Pro643=)
c.1919C= (p.Pro640=)
c.1889C= (p.Pro630=)
5g.141573895G>TCA361519738DIAPH1c.1955C>A (p.Pro652His)
c.1823C>A (p.Pro608His)
c.1928C>A (p.Pro643His)
c.1919C>A (p.Pro640His)
c.1889C>A (p.Pro630His)
 gnomAD v4
5g.141573896G>ACA361519750DIAPH1c.1954C>T (p.Pro652Ser)
c.1822C>T (p.Pro608Ser)
c.1927C>T (p.Pro643Ser)
c.1918C>T (p.Pro640Ser)
c.1888C>T (p.Pro630Ser)
5g.141573896G>CCA361519746DIAPH1c.1954C>G (p.Pro652Ala)
c.1822C>G (p.Pro608Ala)
c.1927C>G (p.Pro643Ala)
c.1918C>G (p.Pro640Ala)
c.1888C>G (p.Pro630Ala)
 gnomAD v4
5g.141573896G>TCA361519743DIAPH1c.1954C>A (p.Pro652Thr)
c.1822C>A (p.Pro608Thr)
c.1927C>A (p.Pro643Thr)
c.1918C>A (p.Pro640Thr)
c.1888C>A (p.Pro630Thr)
 gnomAD v4
5g.141573897G>ACA447088375DIAPH1c.1953C>T (p.Ile651=)
c.1821C>T (p.Ile607=)
c.1926C>T (p.Ile642=)
c.1917C>T (p.Ile639=)
c.1887C>T (p.Ile629=)
5g.141573897G>CCA361519752DIAPH1c.1953C>G (p.Ile651Met)
c.1821C>G (p.Ile607Met)
c.1926C>G (p.Ile642Met)
c.1917C>G (p.Ile639Met)
c.1887C>G (p.Ile629Met)
5g.141573897G>TCA447088376DIAPH1c.1953C>A (p.Ile651=)
c.1821C>A (p.Ile607=)
c.1926C>A (p.Ile642=)
c.1917C>A (p.Ile639=)
c.1887C>A (p.Ile629=)
5g.141573900_141573935delCA2675691758DIAPH1c.1918_1953del (p.Ser640_Ile651del)
c.1786_1821del (p.Ser596_Ile607del)
c.1891_1926del (p.Ser631_Ile642del)
c.1882_1917del (p.Ser628_Ile639del)
c.1852_1887del (p.Ser618_Ile629del)
 gnomAD v4
5g.141573898A>CCA361519755DIAPH1c.1952T>G (p.Ile651Ser)
c.1820T>G (p.Ile607Ser)
c.1925T>G (p.Ile642Ser)
c.1916T>G (p.Ile639Ser)
c.1886T>G (p.Ile629Ser)
5g.141573898A>GCA361519756DIAPH1c.1952T>C (p.Ile651Thr)
c.1820T>C (p.Ile607Thr)
c.1925T>C (p.Ile642Thr)
c.1916T>C (p.Ile639Thr)
c.1886T>C (p.Ile629Thr)
5g.141573898A>TCA361519757DIAPH1c.1952T>A (p.Ile651Asn)
c.1820T>A (p.Ile607Asn)
c.1925T>A (p.Ile642Asn)
c.1916T>A (p.Ile639Asn)
c.1886T>A (p.Ile629Asn)
 ClinVar
5g.141573899T>ACA361519760DIAPH1c.1951A>T (p.Ile651Phe)
c.1819A>T (p.Ile607Phe)
c.1924A>T (p.Ile642Phe)
c.1915A>T (p.Ile639Phe)
c.1885A>T (p.Ile629Phe)
 gnomAD v4
5g.141573899T>CCA361519765DIAPH1c.1951A>G (p.Ile651Val)
c.1819A>G (p.Ile607Val)
c.1924A>G (p.Ile642Val)
c.1915A>G (p.Ile639Val)
c.1885A>G (p.Ile629Val)
 gnomAD v4
5g.141573899T>GCA361519769DIAPH1c.1951A>C (p.Ile651Leu)
c.1819A>C (p.Ile607Leu)
c.1924A>C (p.Ile642Leu)
c.1915A>C (p.Ile639Leu)
c.1885A>C (p.Ile629Leu)
5g.141573900G>ACA447088377DIAPH1c.1950C>T (p.Thr650=)
c.1818C>T (p.Thr606=)
c.1923C>T (p.Thr641=)
c.1914C>T (p.Thr638=)
c.1884C>T (p.Thr628=)
 gnomAD v4
5g.141573900G>CCA447088378DIAPH1c.1950C>G (p.Thr650=)
c.1818C>G (p.Thr606=)
c.1923C>G (p.Thr641=)
c.1914C>G (p.Thr638=)
c.1884C>G (p.Thr628=)
5g.141573900G=CA1587247849DIAPH1c.1950C= (p.Thr650=)
c.1818C= (p.Thr606=)
c.1923C= (p.Thr641=)
c.1914C= (p.Thr638=)
c.1884C= (p.Thr628=)
5g.141573900G>TCA447088379DIAPH1c.1950C>A (p.Thr650=)
c.1818C>A (p.Thr606=)
c.1923C>A (p.Thr641=)
c.1914C>A (p.Thr638=)
c.1884C>A (p.Thr628=)
 dbSNP gnomAD v2
5g.141573901G>ACA361519777DIAPH1c.1949C>T (p.Thr650Ile)
c.1817C>T (p.Thr606Ile)
c.1922C>T (p.Thr641Ile)
c.1913C>T (p.Thr638Ile)
c.1883C>T (p.Thr628Ile)
 gnomAD v4
5g.141573901G>CCA361519780DIAPH1c.1949C>G (p.Thr650Ser)
c.1817C>G (p.Thr606Ser)
c.1922C>G (p.Thr641Ser)
c.1913C>G (p.Thr638Ser)
c.1883C>G (p.Thr628Ser)
 gnomAD v4
5g.141573901G>TCA361519786DIAPH1c.1949C>A (p.Thr650Asn)
c.1817C>A (p.Thr606Asn)
c.1922C>A (p.Thr641Asn)
c.1913C>A (p.Thr638Asn)
c.1883C>A (p.Thr628Asn)
 gnomAD v4
5g.141573902delCA2675691759DIAPH1c.1948del (p.Thr650ProfsTer?)
c.1816del (p.Thr606ProfsTer?)
c.1921del (p.Thr641ProfsTer?)
c.1912del (p.Thr638ProfsTer?)
c.1882del (p.Thr628ProfsTer?)
 gnomAD v4
5g.141573902T>ACA361519792DIAPH1c.1948A>T (p.Thr650Ser)
c.1816A>T (p.Thr606Ser)
c.1921A>T (p.Thr641Ser)
c.1912A>T (p.Thr638Ser)
c.1882A>T (p.Thr628Ser)
5g.141573902T>CCA361519805DIAPH1c.1948A>G (p.Thr650Ala)
c.1816A>G (p.Thr606Ala)
c.1921A>G (p.Thr641Ala)
c.1912A>G (p.Thr638Ala)
c.1882A>G (p.Thr628Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.141573902T>GCA361519809DIAPH1c.1948A>C (p.Thr650Pro)
c.1816A>C (p.Thr606Pro)
c.1921A>C (p.Thr641Pro)
c.1912A>C (p.Thr638Pro)
c.1882A>C (p.Thr628Pro)
5g.141573902T=CA1587247854DIAPH1c.1948A= (p.Thr650=)
c.1816A= (p.Thr606=)
c.1921A= (p.Thr641=)
c.1912A= (p.Thr638=)
c.1882A= (p.Thr628=)
5g.141573903A>CCA447088385DIAPH1c.1947T>G (p.Ala649=)
c.1815T>G (p.Ala605=)
c.1920T>G (p.Ala640=)
c.1911T>G (p.Ala637=)
c.1881T>G (p.Ala627=)
5g.141573903A>GCA447088386DIAPH1c.1947T>C (p.Ala649=)
c.1815T>C (p.Ala605=)
c.1920T>C (p.Ala640=)
c.1911T>C (p.Ala637=)
c.1881T>C (p.Ala627=)
 gnomAD v4
5g.141573903A>TCA447088387DIAPH1c.1947T>A (p.Ala649=)
c.1815T>A (p.Ala605=)
c.1920T>A (p.Ala640=)
c.1911T>A (p.Ala637=)
c.1881T>A (p.Ala627=)

Number of alleles fetched