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.141573723_141573800delCA2675691727DIAPH1c.2050_2127del (p.Ser684_Gly709del)
c.1918_1995del (p.Ser640_Gly665del)
c.2023_2100del (p.Ser675_Gly700del)
c.2014_2091del (p.Ser672_Gly697del)
c.1984_2061del (p.Ser662_Gly687del)
gnomAD v4
5g.141573732_141573770delCA1082278646DIAPH1c.2088_2126del (p.Ser697_Gly709del)
c.1956_1994del (p.Ser653_Gly665del)
c.2061_2099del (p.Ser688_Gly700del)
c.2052_2090del (p.Ser685_Gly697del)
c.2022_2060del (p.Ser675_Gly687del)
gnomAD v3 gnomAD v4
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.141573744_141573779delCA2675691729DIAPH1c.2080_2115del (p.Leu694_Pro705del)
c.1948_1983del (p.Leu650_Pro661del)
c.2053_2088del (p.Leu685_Pro696del)
c.2044_2079del (p.Leu682_Pro693del)
c.2014_2049del (p.Leu672_Pro683del)
gnomAD v4
5g.141573744_141573782delCA1082278657DIAPH1c.2073_2111del (p.Pro692_Pro704del)
c.1941_1979del (p.Pro648_Pro660del)
c.2046_2084del (p.Pro683_Pro695del)
c.2037_2075del (p.Pro680_Pro692del)
c.2007_2045del (p.Pro670_Pro682del)
gnomAD v3 gnomAD v4
5g.141573748_141573789delCA1082278659DIAPH1c.2070_2111del (p.Pro691_Pro704del)
c.1938_1979del (p.Pro647_Pro660del)
c.2043_2084del (p.Pro682_Pro695del)
c.2034_2075del (p.Pro679_Pro692del)
c.2004_2045del (p.Pro669_Pro682del)
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.141573744_141573783delinsGGGGGGAATTCCAGCACTCCCAGGCAAAGGAGGTGGTGGTCA1587247366DIAPH1c.2067_2106delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC (p.Pro689=)
c.1935_1974delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC (p.Pro645=)
c.2040_2079delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC (p.Pro680=)
c.2031_2070delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC (p.Pro677=)
c.2001_2040delinsACCACCACCTCCTTTGCCTGGGAGTGCTGGAATTCCCCCC (p.Pro667=)
5g.141573751_141573790delCA2675691732DIAPH1c.2067_2106del (p.Pro690HisfsTer?)
c.1935_1974del (p.Pro646HisfsTer?)
c.2040_2079del (p.Pro681HisfsTer?)
c.2031_2070del (p.Pro678HisfsTer?)
c.2001_2040del (p.Pro668HisfsTer?)
gnomAD v4
5g.141573750_141573788dupCA2675691733DIAPH1c.2067_2105dup (p.Pro702_Pro703insProProProProLeuProGlySerAlaGlyIleProPro)
c.1935_1973dup (p.Pro658_Pro659insProProProProLeuProGlySerAlaGlyIleProPro)
c.2040_2078dup (p.Pro693_Pro694insProProProProLeuProGlySerAlaGlyIleProPro)
c.2031_2069dup (p.Pro690_Pro691insProProProProLeuProGlySerAlaGlyIleProPro)
c.2001_2039dup (p.Pro680_Pro681insProProProProLeuProGlySerAlaGlyIleProPro)
gnomAD v4
5g.141573750_141573788delCA3479158DIAPH1c.2067_2105del (p.Pro690_Pro702del)
c.1935_1973del (p.Pro646_Pro658del)
c.2040_2078del (p.Pro681_Pro693del)
c.2031_2069del (p.Pro678_Pro690del)
c.2001_2039del (p.Pro668_Pro680del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573750_141573787delCA645558431DIAPH1c.2067_2104del (p.Pro691ThrfsTer?)
c.1935_1972del (p.Pro647ThrfsTer?)
c.2040_2077del (p.Pro682ThrfsTer?)
c.2031_2068del (p.Pro679ThrfsTer?)
c.2001_2038del (p.Pro669ThrfsTer?)
COSMIC
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.141573755_141573794delinsCAGCACTCCCAGGCAAAGGAGGTGGTGGTGGGGGGATTCTCA1587247418DIAPH1c.2056_2095delinsAGAATCCCCCCACCACCACCTCCTTTGCCTGGGAGTGCTG (p.Arg686=)
c.1924_1963delinsAGAATCCCCCCACCACCACCTCCTTTGCCTGGGAGTGCTG (p.Arg642=)
c.2029_2068delinsAGAATCCCCCCACCACCACCTCCTTTGCCTGGGAGTGCTG (p.Arg677=)
c.2020_2059delinsAGAATCCCCCCACCACCACCTCCTTTGCCTGGGAGTGCTG (p.Arg674=)
c.1990_2029delinsAGAATCCCCCCACCACCACCTCCTTTGCCTGGGAGTGCTG (p.Arg664=)
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.141573766G>ACA361518390DIAPH1c.2084C>T (p.Pro695Leu)
c.1952C>T (p.Pro651Leu)
c.2057C>T (p.Pro686Leu)
c.2048C>T (p.Pro683Leu)
c.2018C>T (p.Pro673Leu)
gnomAD v4
5g.141573766G>CCA361518393DIAPH1c.2084C>G (p.Pro695Arg)
c.1952C>G (p.Pro651Arg)
c.2057C>G (p.Pro686Arg)
c.2048C>G (p.Pro683Arg)
c.2018C>G (p.Pro673Arg)
5g.141573766G>TCA361518396DIAPH1c.2084C>A (p.Pro695His)
c.1952C>A (p.Pro651His)
c.2057C>A (p.Pro686His)
c.2048C>A (p.Pro683His)
c.2018C>A (p.Pro673His)
gnomAD v3 gnomAD v4
5g.141573767G>ACA361518402DIAPH1c.2083C>T (p.Pro695Ser)
c.1951C>T (p.Pro651Ser)
c.2056C>T (p.Pro686Ser)
c.2047C>T (p.Pro683Ser)
c.2017C>T (p.Pro673Ser)
gnomAD v4
5g.141573767G>CCA361518412DIAPH1c.2083C>G (p.Pro695Ala)
c.1951C>G (p.Pro651Ala)
c.2056C>G (p.Pro686Ala)
c.2047C>G (p.Pro683Ala)
c.2017C>G (p.Pro673Ala)
5g.141573767G>TCA361518415DIAPH1c.2083C>A (p.Pro695Thr)
c.1951C>A (p.Pro651Thr)
c.2056C>A (p.Pro686Thr)
c.2047C>A (p.Pro683Thr)
c.2017C>A (p.Pro673Thr)
gnomAD v4
5g.141573768C>ACA3479167DIAPH1c.2082G>T (p.Leu694Phe)
c.1950G>T (p.Leu650Phe)
c.2055G>T (p.Leu685Phe)
c.2046G>T (p.Leu682Phe)
c.2016G>T (p.Leu672Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.141573768C=CA1587247446DIAPH1c.2082G= (p.Leu694=)
c.1950G= (p.Leu650=)
c.2055G= (p.Leu685=)
c.2046G= (p.Leu682=)
c.2016G= (p.Leu672=)
5g.141573768C>GCA361518426DIAPH1c.2082G>C (p.Leu694Phe)
c.1950G>C (p.Leu650Phe)
c.2055G>C (p.Leu685Phe)
c.2046G>C (p.Leu682Phe)
c.2016G>C (p.Leu672Phe)
gnomAD v4
5g.141573768C>TCA447088873DIAPH1c.2082G>A (p.Leu694=)
c.1950G>A (p.Leu650=)
c.2055G>A (p.Leu685=)
c.2046G>A (p.Leu682=)
c.2016G>A (p.Leu672=)
gnomAD v4
5g.141573769A>CCA361518432DIAPH1c.2081T>G (p.Leu694Trp)
c.1949T>G (p.Leu650Trp)
c.2054T>G (p.Leu685Trp)
c.2045T>G (p.Leu682Trp)
c.2015T>G (p.Leu672Trp)
5g.141573769A>GCA361518428DIAPH1c.2081T>C (p.Leu694Ser)
c.1949T>C (p.Leu650Ser)
c.2054T>C (p.Leu685Ser)
c.2045T>C (p.Leu682Ser)
c.2015T>C (p.Leu672Ser)
5g.141573769A>TCA361518427DIAPH1c.2081T>A (p.Leu694Ter)
c.1949T>A (p.Leu650Ter)
c.2054T>A (p.Leu685Ter)
c.2045T>A (p.Leu682Ter)
c.2015T>A (p.Leu672Ter)
5g.141573771delCA2675691736DIAPH1c.2081del (p.Leu694CysfsTer?)
c.1949del (p.Leu650CysfsTer?)
c.2054del (p.Leu685CysfsTer?)
c.2045del (p.Leu682CysfsTer?)
c.2015del (p.Leu672CysfsTer?)
gnomAD v4
5g.141573770A>CCA361518436DIAPH1c.2080T>G (p.Leu694Val)
c.1948T>G (p.Leu650Val)
c.2053T>G (p.Leu685Val)
c.2044T>G (p.Leu682Val)
c.2014T>G (p.Leu672Val)
5g.141573770A>GCA447088878DIAPH1c.2080T>C (p.Leu694=)
c.1948T>C (p.Leu650=)
c.2053T>C (p.Leu685=)
c.2044T>C (p.Leu682=)
c.2014T>C (p.Leu672=)
gnomAD v4
5g.141573770A>TCA361518440DIAPH1c.2080T>A (p.Leu694Met)
c.1948T>A (p.Leu650Met)
c.2053T>A (p.Leu685Met)
c.2044T>A (p.Leu682Met)
c.2014T>A (p.Leu672Met)
5g.141573771A=CA1587247458DIAPH1c.2079T= (p.Pro693=)
c.1947T= (p.Pro649=)
c.2052T= (p.Pro684=)
c.2043T= (p.Pro681=)
c.2013T= (p.Pro671=)
5g.141573771A>CCA447088879DIAPH1c.2079T>G (p.Pro693=)
c.1947T>G (p.Pro649=)
c.2052T>G (p.Pro684=)
c.2043T>G (p.Pro681=)
c.2013T>G (p.Pro671=)
5g.141573771A>GCA3479168DIAPH1c.2079T>C (p.Pro693=)
c.1947T>C (p.Pro649=)
c.2052T>C (p.Pro684=)
c.2043T>C (p.Pro681=)
c.2013T>C (p.Pro671=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573771A>TCA447088880DIAPH1c.2079T>A (p.Pro693=)
c.1947T>A (p.Pro649=)
c.2052T>A (p.Pro684=)
c.2043T>A (p.Pro681=)
c.2013T>A (p.Pro671=)
gnomAD v4
5g.141573772G>ACA361518441DIAPH1c.2078C>T (p.Pro693Leu)
c.1946C>T (p.Pro649Leu)
c.2051C>T (p.Pro684Leu)
c.2042C>T (p.Pro681Leu)
c.2012C>T (p.Pro671Leu)
dbSNP gnomAD v2 gnomAD v4
5g.141573772G>CCA361518443DIAPH1c.2078C>G (p.Pro693Arg)
c.1946C>G (p.Pro649Arg)
c.2051C>G (p.Pro684Arg)
c.2042C>G (p.Pro681Arg)
c.2012C>G (p.Pro671Arg)
5g.141573772G=CA1587247466DIAPH1c.2078C= (p.Pro693=)
c.1946C= (p.Pro649=)
c.2051C= (p.Pro684=)
c.2042C= (p.Pro681=)
c.2012C= (p.Pro671=)
5g.141573772G>TCA361518451DIAPH1c.2078C>A (p.Pro693His)
c.1946C>A (p.Pro649His)
c.2051C>A (p.Pro684His)
c.2042C>A (p.Pro681His)
c.2012C>A (p.Pro671His)
gnomAD v4
5g.141573773G>ACA3479169DIAPH1c.2077C>T (p.Pro693Ser)
c.1945C>T (p.Pro649Ser)
c.2050C>T (p.Pro684Ser)
c.2041C>T (p.Pro681Ser)
c.2011C>T (p.Pro671Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.141573773G>CCA361518457DIAPH1c.2077C>G (p.Pro693Ala)
c.1945C>G (p.Pro649Ala)
c.2050C>G (p.Pro684Ala)
c.2041C>G (p.Pro681Ala)
c.2011C>G (p.Pro671Ala)
5g.141573773G=CA1587247471DIAPH1c.2077C= (p.Pro693=)
c.1945C= (p.Pro649=)
c.2050C= (p.Pro684=)
c.2041C= (p.Pro681=)
c.2011C= (p.Pro671=)
5g.141573773G>TCA361518461DIAPH1c.2077C>A (p.Pro693Thr)
c.1945C>A (p.Pro649Thr)
c.2050C>A (p.Pro684Thr)
c.2041C>A (p.Pro681Thr)
c.2011C>A (p.Pro671Thr)
gnomAD v4
5g.141573774A=CA1587247477DIAPH1c.2076T= (p.Pro692=)
c.1944T= (p.Pro648=)
c.2049T= (p.Pro683=)
c.2040T= (p.Pro680=)
c.2010T= (p.Pro670=)
5g.141573774A>CCA447088886DIAPH1c.2076T>G (p.Pro692=)
c.1944T>G (p.Pro648=)
c.2049T>G (p.Pro683=)
c.2040T>G (p.Pro680=)
c.2010T>G (p.Pro670=)
gnomAD v4
5g.141573774A>GCA447088887DIAPH1c.2076T>C (p.Pro692=)
c.1944T>C (p.Pro648=)
c.2049T>C (p.Pro683=)
c.2040T>C (p.Pro680=)
c.2010T>C (p.Pro670=)
dbSNP gnomAD v3 gnomAD v4
5g.141573774A>TCA447088888DIAPH1c.2076T>A (p.Pro692=)
c.1944T>A (p.Pro648=)
c.2049T>A (p.Pro683=)
c.2040T>A (p.Pro680=)
c.2010T>A (p.Pro670=)
gnomAD v4
5g.141573774_141573777delinsAGGTCA1587247479DIAPH1c.2073_2076delinsACCT (p.Pro691=)
c.1941_1944delinsACCT (p.Pro647=)
c.2046_2049delinsACCT (p.Pro682=)
c.2037_2040delinsACCT (p.Pro679=)
c.2007_2010delinsACCT (p.Pro669=)
5g.141573775G>ACA361518462DIAPH1c.2075C>T (p.Pro692Leu)
c.1943C>T (p.Pro648Leu)
c.2048C>T (p.Pro683Leu)
c.2039C>T (p.Pro680Leu)
c.2009C>T (p.Pro670Leu)
dbSNP gnomAD v4
5g.141573775G>CCA361518463DIAPH1c.2075C>G (p.Pro692Arg)
c.1943C>G (p.Pro648Arg)
c.2048C>G (p.Pro683Arg)
c.2039C>G (p.Pro680Arg)
c.2009C>G (p.Pro670Arg)
ClinVar
5g.141573775G=CA1587247487DIAPH1c.2075C= (p.Pro692=)
c.1943C= (p.Pro648=)
c.2048C= (p.Pro683=)
c.2039C= (p.Pro680=)
c.2009C= (p.Pro670=)
5g.141573775G>TCA361518465DIAPH1c.2075C>A (p.Pro692His)
c.1943C>A (p.Pro648His)
c.2048C>A (p.Pro683His)
c.2039C>A (p.Pro680His)
c.2009C>A (p.Pro670His)
gnomAD v4
5g.141573783_141573785delCA563502844DIAPH1c.2073_2075del (p.Pro692del)
c.1941_1943del (p.Pro648del)
c.2046_2048del (p.Pro683del)
c.2037_2039del (p.Pro680del)
c.2007_2009del (p.Pro670del)
dbSNP gnomAD v2 gnomAD v4
5g.141573776G>ACA361518472DIAPH1c.2074C>T (p.Pro692Ser)
c.1942C>T (p.Pro648Ser)
c.2047C>T (p.Pro683Ser)
c.2038C>T (p.Pro680Ser)
c.2008C>T (p.Pro670Ser)
gnomAD v4
5g.141573776G>CCA361518475DIAPH1c.2074C>G (p.Pro692Ala)
c.1942C>G (p.Pro648Ala)
c.2047C>G (p.Pro683Ala)
c.2038C>G (p.Pro680Ala)
c.2008C>G (p.Pro670Ala)
5g.141573776G>TCA361518467DIAPH1c.2074C>A (p.Pro692Thr)
c.1942C>A (p.Pro648Thr)
c.2047C>A (p.Pro683Thr)
c.2038C>A (p.Pro680Thr)
c.2008C>A (p.Pro670Thr)
gnomAD v4
5g.141573777delCA1082278720DIAPH1c.2073del (p.Pro692LeufsTer?)
c.1941del (p.Pro648LeufsTer?)
c.2046del (p.Pro683LeufsTer?)
c.2037del (p.Pro680LeufsTer?)
c.2007del (p.Pro670LeufsTer?)
gnomAD v3 gnomAD v4
5g.141573777T>ACA447088892DIAPH1c.2073A>T (p.Pro691=)
c.1941A>T (p.Pro647=)
c.2046A>T (p.Pro682=)
c.2037A>T (p.Pro679=)
c.2007A>T (p.Pro669=)
dbSNP gnomAD v3 gnomAD v4
5g.141573777T>CCA447088893DIAPH1c.2073A>G (p.Pro691=)
c.1941A>G (p.Pro647=)
c.2046A>G (p.Pro682=)
c.2037A>G (p.Pro679=)
c.2007A>G (p.Pro669=)
gnomAD v3 gnomAD v4
5g.141573777T>GCA447088895DIAPH1c.2073A>C (p.Pro691=)
c.1941A>C (p.Pro647=)
c.2046A>C (p.Pro682=)
c.2037A>C (p.Pro679=)
c.2007A>C (p.Pro669=)
dbSNP gnomAD v3 gnomAD v4
5g.141573777T=CA1587247491DIAPH1c.2073A= (p.Pro691=)
c.1941A= (p.Pro647=)
c.2046A= (p.Pro682=)
c.2037A= (p.Pro679=)
c.2007A= (p.Pro669=)
5g.141573778G>ACA361518479DIAPH1c.2072C>T (p.Pro691Leu)
c.1940C>T (p.Pro647Leu)
c.2045C>T (p.Pro682Leu)
c.2036C>T (p.Pro679Leu)
c.2006C>T (p.Pro669Leu)
gnomAD v4
5g.141573778G>CCA361518481DIAPH1c.2072C>G (p.Pro691Arg)
c.1940C>G (p.Pro647Arg)
c.2045C>G (p.Pro682Arg)
c.2036C>G (p.Pro679Arg)
c.2006C>G (p.Pro669Arg)
5g.141573778G>TCA361518486DIAPH1c.2072C>A (p.Pro691Gln)
c.1940C>A (p.Pro647Gln)
c.2045C>A (p.Pro682Gln)
c.2036C>A (p.Pro679Gln)
c.2006C>A (p.Pro669Gln)
gnomAD v4
5g.141573779delCA2768670668DIAPH1c.2072del (p.Pro691HisfsTer?)
c.1940del (p.Pro647HisfsTer?)
c.2045del (p.Pro682HisfsTer?)
c.2036del (p.Pro679HisfsTer?)
c.2006del (p.Pro669HisfsTer?)
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.141573779G>ACA361518490DIAPH1c.2071C>T (p.Pro691Ser)
c.1939C>T (p.Pro647Ser)
c.2044C>T (p.Pro682Ser)
c.2035C>T (p.Pro679Ser)
c.2005C>T (p.Pro669Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141573779G>CCA361518491DIAPH1c.2071C>G (p.Pro691Ala)
c.1939C>G (p.Pro647Ala)
c.2044C>G (p.Pro682Ala)
c.2035C>G (p.Pro679Ala)
c.2005C>G (p.Pro669Ala)
5g.141573779G=CA1587247499DIAPH1c.2071C= (p.Pro691=)
c.1939C= (p.Pro647=)
c.2044C= (p.Pro682=)
c.2035C= (p.Pro679=)
c.2005C= (p.Pro669=)
5g.141573779G>TCA361518494DIAPH1c.2071C>A (p.Pro691Thr)
c.1939C>A (p.Pro647Thr)
c.2044C>A (p.Pro682Thr)
c.2035C>A (p.Pro679Thr)
c.2005C>A (p.Pro669Thr)
gnomAD v4
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.141573780T>ACA447088899DIAPH1c.2070A>T (p.Pro690=)
c.1938A>T (p.Pro646=)
c.2043A>T (p.Pro681=)
c.2034A>T (p.Pro678=)
c.2004A>T (p.Pro668=)
gnomAD v3 gnomAD v4
5g.141573780T>CCA447088900DIAPH1c.2070A>G (p.Pro690=)
c.1938A>G (p.Pro646=)
c.2043A>G (p.Pro681=)
c.2034A>G (p.Pro678=)
c.2004A>G (p.Pro668=)
dbSNP gnomAD v2 gnomAD v4
5g.141573780T>GCA447088902DIAPH1c.2070A>C (p.Pro690=)
c.1938A>C (p.Pro646=)
c.2043A>C (p.Pro681=)
c.2034A>C (p.Pro678=)
c.2004A>C (p.Pro668=)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141573780T=CA1587247502DIAPH1c.2070A= (p.Pro690=)
c.1938A= (p.Pro646=)
c.2043A= (p.Pro681=)
c.2034A= (p.Pro678=)
c.2004A= (p.Pro668=)
5g.141573781G>ACA361518497DIAPH1c.2069C>T (p.Pro690Leu)
c.1937C>T (p.Pro646Leu)
c.2042C>T (p.Pro681Leu)
c.2033C>T (p.Pro678Leu)
c.2003C>T (p.Pro668Leu)
gnomAD v4
5g.141573781G>CCA361518503DIAPH1c.2069C>G (p.Pro690Arg)
c.1937C>G (p.Pro646Arg)
c.2042C>G (p.Pro681Arg)
c.2033C>G (p.Pro678Arg)
c.2003C>G (p.Pro668Arg)
5g.141573781G>TCA361518499DIAPH1c.2069C>A (p.Pro690Gln)
c.1937C>A (p.Pro646Gln)
c.2042C>A (p.Pro681Gln)
c.2033C>A (p.Pro678Gln)
c.2003C>A (p.Pro668Gln)
gnomAD v4
5g.141573782delCA2675691738DIAPH1c.2069del (p.Pro690HisfsTer?)
c.1937del (p.Pro646HisfsTer?)
c.2042del (p.Pro681HisfsTer?)
c.2033del (p.Pro678HisfsTer?)
c.2003del (p.Pro668HisfsTer?)
gnomAD v4
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.141573782G>ACA361518509DIAPH1c.2068C>T (p.Pro690Ser)
c.1936C>T (p.Pro646Ser)
c.2041C>T (p.Pro681Ser)
c.2032C>T (p.Pro678Ser)
c.2002C>T (p.Pro668Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.141573782G>CCA361518512DIAPH1c.2068C>G (p.Pro690Ala)
c.1936C>G (p.Pro646Ala)
c.2041C>G (p.Pro681Ala)
c.2032C>G (p.Pro678Ala)
c.2002C>G (p.Pro668Ala)
5g.141573782G=CA1587247511DIAPH1c.2068C= (p.Pro690=)
c.1936C= (p.Pro646=)
c.2041C= (p.Pro681=)
c.2032C= (p.Pro678=)
c.2002C= (p.Pro668=)
5g.141573782G>TCA361518521DIAPH1c.2068C>A (p.Pro690Thr)
c.1936C>A (p.Pro646Thr)
c.2041C>A (p.Pro681Thr)
c.2032C>A (p.Pro678Thr)
c.2002C>A (p.Pro668Thr)
gnomAD v4
5g.141573783delCA2675691740DIAPH1c.2067del (p.Pro690HisfsTer?)
c.1935del (p.Pro646HisfsTer?)
c.2040del (p.Pro681HisfsTer?)
c.2031del (p.Pro678HisfsTer?)
c.2001del (p.Pro668HisfsTer?)
gnomAD v4
5g.141573783T>ACA447088906DIAPH1c.2067A>T (p.Pro689=)
c.1935A>T (p.Pro645=)
c.2040A>T (p.Pro680=)
c.2031A>T (p.Pro677=)
c.2001A>T (p.Pro667=)
gnomAD v3 gnomAD v4
5g.141573783T>CCA447088908DIAPH1c.2067A>G (p.Pro689=)
c.1935A>G (p.Pro645=)
c.2040A>G (p.Pro680=)
c.2031A>G (p.Pro677=)
c.2001A>G (p.Pro667=)
5g.141573783T>GCA10576653DIAPH1c.2067A>C (p.Pro689=)
c.1935A>C (p.Pro645=)
c.2040A>C (p.Pro680=)
c.2031A>C (p.Pro677=)
c.2001A>C (p.Pro667=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573783T=CA1587247518DIAPH1c.2067A= (p.Pro689=)
c.1935A= (p.Pro645=)
c.2040A= (p.Pro680=)
c.2031A= (p.Pro677=)
c.2001A= (p.Pro667=)
5g.141573784G>ACA361518538DIAPH1c.2066C>T (p.Pro689Leu)
c.1934C>T (p.Pro645Leu)
c.2039C>T (p.Pro680Leu)
c.2030C>T (p.Pro677Leu)
c.2000C>T (p.Pro667Leu)
dbSNP gnomAD v2 gnomAD v4
5g.141573784G>CCA361518535DIAPH1c.2066C>G (p.Pro689Arg)
c.1934C>G (p.Pro645Arg)
c.2039C>G (p.Pro680Arg)
c.2030C>G (p.Pro677Arg)
c.2000C>G (p.Pro667Arg)
ClinVar dbSNP
5g.141573784G=CA1587247524DIAPH1c.2066C= (p.Pro689=)
c.1934C= (p.Pro645=)
c.2039C= (p.Pro680=)
c.2030C= (p.Pro677=)
c.2000C= (p.Pro667=)
5g.141573784G>TCA361518532DIAPH1c.2066C>A (p.Pro689Gln)
c.1934C>A (p.Pro645Gln)
c.2039C>A (p.Pro680Gln)
c.2030C>A (p.Pro677Gln)
c.2000C>A (p.Pro667Gln)
gnomAD v4
5g.141573789dupCA2578432697DIAPH1c.2066dup (p.Pro690ThrfsTer?)
c.1934dup (p.Pro646ThrfsTer?)
c.2039dup (p.Pro681ThrfsTer?)
c.2030dup (p.Pro678ThrfsTer?)
c.2000dup (p.Pro668ThrfsTer?)
gnomAD v4
5g.141573789delCA1082278733DIAPH1c.2066del (p.Pro689HisfsTer?)
c.1934del (p.Pro645HisfsTer?)
c.2039del (p.Pro680HisfsTer?)
c.2030del (p.Pro677HisfsTer?)
c.2000del (p.Pro667HisfsTer?)
gnomAD v3 gnomAD v4
5g.141573788_141573789delCA2675691741DIAPH1c.2065_2066del (p.Pro689ThrfsTer?)
c.1933_1934del (p.Pro645ThrfsTer?)
c.2038_2039del (p.Pro680ThrfsTer?)
c.2029_2030del (p.Pro677ThrfsTer?)
c.1999_2000del (p.Pro667ThrfsTer?)
gnomAD v4
5g.141573787_141573789delCA2578432698DIAPH1c.2064_2066del (p.Pro689del)
c.1932_1934del (p.Pro645del)
c.2037_2039del (p.Pro680del)
c.2028_2030del (p.Pro677del)
c.1998_2000del (p.Pro667del)
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.141573785G>ACA361518546DIAPH1c.2065C>T (p.Pro689Ser)
c.1933C>T (p.Pro645Ser)
c.2038C>T (p.Pro680Ser)
c.2029C>T (p.Pro677Ser)
c.1999C>T (p.Pro667Ser)
gnomAD v3 gnomAD v4
5g.141573785G>CCA361518553DIAPH1c.2065C>G (p.Pro689Ala)
c.1933C>G (p.Pro645Ala)
c.2038C>G (p.Pro680Ala)
c.2029C>G (p.Pro677Ala)
c.1999C>G (p.Pro667Ala)
5g.141573785G>TCA361518549DIAPH1c.2065C>A (p.Pro689Thr)
c.1933C>A (p.Pro645Thr)
c.2038C>A (p.Pro680Thr)
c.2029C>A (p.Pro677Thr)
c.1999C>A (p.Pro667Thr)
gnomAD v4
5g.141573785_141573786insTGGTGGTGGTGGTGGTGGTCA2675691743DIAPH1c.2064_2065insACCACCACCACCACCACCA (p.Pro689ThrfsTer?)
c.1932_1933insACCACCACCACCACCACCA (p.Pro645ThrfsTer?)
c.2037_2038insACCACCACCACCACCACCA (p.Pro680ThrfsTer?)
c.2028_2029insACCACCACCACCACCACCA (p.Pro677ThrfsTer?)
c.1998_1999insACCACCACCACCACCACCA (p.Pro667ThrfsTer?)
gnomAD v4
5g.141573786G>ACA447088912DIAPH1c.2064C>T (p.Pro688=)
c.1932C>T (p.Pro644=)
c.2037C>T (p.Pro679=)
c.2028C>T (p.Pro676=)
c.1998C>T (p.Pro666=)
dbSNP gnomAD v3 gnomAD v4
5g.141573786G>CCA447088916DIAPH1c.2064C>G (p.Pro688=)
c.1932C>G (p.Pro644=)
c.2037C>G (p.Pro679=)
c.2028C>G (p.Pro676=)
c.1998C>G (p.Pro666=)
5g.141573786G=CA1587247528DIAPH1c.2064C= (p.Pro688=)
c.1932C= (p.Pro644=)
c.2037C= (p.Pro679=)
c.2028C= (p.Pro676=)
c.1998C= (p.Pro666=)
5g.141573786G>TCA447088913DIAPH1c.2064C>A (p.Pro688=)
c.1932C>A (p.Pro644=)
c.2037C>A (p.Pro679=)
c.2028C>A (p.Pro676=)
c.1998C>A (p.Pro666=)
ClinVar dbSNP gnomAD v2 gnomAD v3 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.141573787G>ACA3479170DIAPH1c.2063C>T (p.Pro688Leu)
c.1931C>T (p.Pro644Leu)
c.2036C>T (p.Pro679Leu)
c.2027C>T (p.Pro676Leu)
c.1997C>T (p.Pro666Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573787G>CCA361518578DIAPH1c.2063C>G (p.Pro688Arg)
c.1931C>G (p.Pro644Arg)
c.2036C>G (p.Pro679Arg)
c.2027C>G (p.Pro676Arg)
c.1997C>G (p.Pro666Arg)
dbSNP
5g.141573787G=CA1587247531DIAPH1c.2063C= (p.Pro688=)
c.1931C= (p.Pro644=)
c.2036C= (p.Pro679=)
c.2027C= (p.Pro676=)
c.1997C= (p.Pro666=)
5g.141573787G>TCA361518594DIAPH1c.2063C>A (p.Pro688His)
c.1931C>A (p.Pro644His)
c.2036C>A (p.Pro679His)
c.2027C>A (p.Pro676His)
c.1997C>A (p.Pro666His)
gnomAD v4
5g.141573788G>ACA361518600DIAPH1c.2062C>T (p.Pro688Ser)
c.1930C>T (p.Pro644Ser)
c.2035C>T (p.Pro679Ser)
c.2026C>T (p.Pro676Ser)
c.1996C>T (p.Pro666Ser)
gnomAD v4 COSMIC
5g.141573788G>CCA361518603DIAPH1c.2062C>G (p.Pro688Ala)
c.1930C>G (p.Pro644Ala)
c.2035C>G (p.Pro679Ala)
c.2026C>G (p.Pro676Ala)
c.1996C>G (p.Pro666Ala)
gnomAD v4
5g.141573788G>TCA361518606DIAPH1c.2062C>A (p.Pro688Thr)
c.1930C>A (p.Pro644Thr)
c.2035C>A (p.Pro679Thr)
c.2026C>A (p.Pro676Thr)
c.1996C>A (p.Pro666Thr)
gnomAD v4
5g.141573789G>ACA447088919DIAPH1c.2061C>T (p.Ile687=)
c.1929C>T (p.Ile643=)
c.2034C>T (p.Ile678=)
c.2025C>T (p.Ile675=)
c.1995C>T (p.Ile665=)
ClinVar dbSNP gnomAD v4
5g.141573789G>CCA361518611DIAPH1c.2061C>G (p.Ile687Met)
c.1929C>G (p.Ile643Met)
c.2034C>G (p.Ile678Met)
c.2025C>G (p.Ile675Met)
c.1995C>G (p.Ile665Met)
ClinVar dbSNP gnomAD v4
5g.141573789G=CA1587247534DIAPH1c.2061C= (p.Ile687=)
c.1929C= (p.Ile643=)
c.2034C= (p.Ile678=)
c.2025C= (p.Ile675=)
c.1995C= (p.Ile665=)
5g.141573789G>TCA447088922DIAPH1c.2061C>A (p.Ile687=)
c.1929C>A (p.Ile643=)
c.2034C>A (p.Ile678=)
c.2025C>A (p.Ile675=)
c.1995C>A (p.Ile665=)
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.141573790delCA2675691744DIAPH1c.2060del (p.Ile687ThrfsTer?)
c.1928del (p.Ile643ThrfsTer?)
c.2033del (p.Ile678ThrfsTer?)
c.2024del (p.Ile675ThrfsTer?)
c.1994del (p.Ile665ThrfsTer?)
gnomAD v4
5g.141573790A=CA1587247540DIAPH1c.2060T= (p.Ile687=)
c.1928T= (p.Ile643=)
c.2033T= (p.Ile678=)
c.2024T= (p.Ile675=)
c.1994T= (p.Ile665=)
5g.141573790A>CCA361518614DIAPH1c.2060T>G (p.Ile687Ser)
c.1928T>G (p.Ile643Ser)
c.2033T>G (p.Ile678Ser)
c.2024T>G (p.Ile675Ser)
c.1994T>G (p.Ile665Ser)
gnomAD v3 gnomAD v4
5g.141573790A>GCA361518615DIAPH1c.2060T>C (p.Ile687Thr)
c.1928T>C (p.Ile643Thr)
c.2033T>C (p.Ile678Thr)
c.2024T>C (p.Ile675Thr)
c.1994T>C (p.Ile665Thr)
dbSNP gnomAD v3 gnomAD v4
5g.141573790A>TCA361518616DIAPH1c.2060T>A (p.Ile687Asn)
c.1928T>A (p.Ile643Asn)
c.2033T>A (p.Ile678Asn)
c.2024T>A (p.Ile675Asn)
c.1994T>A (p.Ile665Asn)
dbSNP gnomAD v3 gnomAD v4
5g.141573791T>ACA361518619DIAPH1c.2059A>T (p.Ile687Phe)
c.1927A>T (p.Ile643Phe)
c.2032A>T (p.Ile678Phe)
c.2023A>T (p.Ile675Phe)
c.1993A>T (p.Ile665Phe)
gnomAD v4
5g.141573791T>CCA3479171DIAPH1c.2059A>G (p.Ile687Val)
c.1927A>G (p.Ile643Val)
c.2032A>G (p.Ile678Val)
c.2023A>G (p.Ile675Val)
c.1993A>G (p.Ile665Val)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.141573791T>GCA361518623DIAPH1c.2059A>C (p.Ile687Leu)
c.1927A>C (p.Ile643Leu)
c.2032A>C (p.Ile678Leu)
c.2023A>C (p.Ile675Leu)
c.1993A>C (p.Ile665Leu)
gnomAD v3 gnomAD v4
5g.141573791T=CA1587247542DIAPH1c.2059A= (p.Ile687=)
c.1927A= (p.Ile643=)
c.2032A= (p.Ile678=)
c.2023A= (p.Ile675=)
c.1993A= (p.Ile665=)
5g.141573792T>ACA361518632DIAPH1c.2058A>T (p.Arg686Ser)
c.1926A>T (p.Arg642Ser)
c.2031A>T (p.Arg677Ser)
c.2022A>T (p.Arg674Ser)
c.1992A>T (p.Arg664Ser)
gnomAD v3 gnomAD v4
5g.141573792T>CCA447088926DIAPH1c.2058A>G (p.Arg686=)
c.1926A>G (p.Arg642=)
c.2031A>G (p.Arg677=)
c.2022A>G (p.Arg674=)
c.1992A>G (p.Arg664=)
gnomAD v4
5g.141573792T>GCA361518635DIAPH1c.2058A>C (p.Arg686Ser)
c.1926A>C (p.Arg642Ser)
c.2031A>C (p.Arg677Ser)
c.2022A>C (p.Arg674Ser)
c.1992A>C (p.Arg664Ser)
dbSNP gnomAD v3 gnomAD v4
5g.141573792T=CA1587247545DIAPH1c.2058A= (p.Arg686=)
c.1926A= (p.Arg642=)
c.2031A= (p.Arg677=)
c.2022A= (p.Arg674=)
c.1992A= (p.Arg664=)
5g.141573793C>ACA361518641DIAPH1c.2057G>T (p.Arg686Ile)
c.1925G>T (p.Arg642Ile)
c.2030G>T (p.Arg677Ile)
c.2021G>T (p.Arg674Ile)
c.1991G>T (p.Arg664Ile)
ClinVar gnomAD v4
5g.141573793C>GCA361518644DIAPH1c.2057G>C (p.Arg686Thr)
c.1925G>C (p.Arg642Thr)
c.2030G>C (p.Arg677Thr)
c.2021G>C (p.Arg674Thr)
c.1991G>C (p.Arg664Thr)
5g.141573793C>TCA361518650DIAPH1c.2057G>A (p.Arg686Lys)
c.1925G>A (p.Arg642Lys)
c.2030G>A (p.Arg677Lys)
c.2021G>A (p.Arg674Lys)
c.1991G>A (p.Arg664Lys)
gnomAD v4
5g.141573794_141573802delCA2675691745DIAPH1c.2049_2057del (p.Ser684_Arg686del)
c.1917_1925del (p.Ser640_Arg642del)
c.2022_2030del (p.Ser675_Arg677del)
c.2013_2021del (p.Ser672_Arg674del)
c.1983_1991del (p.Ser662_Arg664del)
gnomAD v4
5g.141573794T>ACA361518655DIAPH1c.2056A>T (p.Arg686Ter)
c.1924A>T (p.Arg642Ter)
c.2029A>T (p.Arg677Ter)
c.2020A>T (p.Arg674Ter)
c.1990A>T (p.Arg664Ter)
gnomAD v4
5g.141573794T>CCA361518657DIAPH1c.2056A>G (p.Arg686Gly)
c.1924A>G (p.Arg642Gly)
c.2029A>G (p.Arg677Gly)
c.2020A>G (p.Arg674Gly)
c.1990A>G (p.Arg664Gly)
ClinVar dbSNP gnomAD v4
5g.141573794T>GCA447088931DIAPH1c.2056A>C (p.Arg686=)
c.1924A>C (p.Arg642=)
c.2029A>C (p.Arg677=)
c.2020A>C (p.Arg674=)
c.1990A>C (p.Arg664=)
5g.141573794T=CA1587247551DIAPH1c.2056A= (p.Arg686=)
c.1924A= (p.Arg642=)
c.2029A= (p.Arg677=)
c.2020A= (p.Arg674=)
c.1990A= (p.Arg664=)
5g.141573795delCA2578432699DIAPH1c.2055del (p.Arg686GlufsTer?)
c.1923del (p.Arg642GlufsTer?)
c.2028del (p.Arg677GlufsTer?)
c.2019del (p.Arg674GlufsTer?)
c.1989del (p.Arg664GlufsTer?)
5g.141573795A>CCA447088932DIAPH1c.2055T>G (p.Ala685=)
c.1923T>G (p.Ala641=)
c.2028T>G (p.Ala676=)
c.2019T>G (p.Ala673=)
c.1989T>G (p.Ala663=)
5g.141573795A>GCA447088933DIAPH1c.2055T>C (p.Ala685=)
c.1923T>C (p.Ala641=)
c.2028T>C (p.Ala676=)
c.2019T>C (p.Ala673=)
c.1989T>C (p.Ala663=)
gnomAD v4 COSMIC
5g.141573795A>TCA447088934DIAPH1c.2055T>A (p.Ala685=)
c.1923T>A (p.Ala641=)
c.2028T>A (p.Ala676=)
c.2019T>A (p.Ala673=)
c.1989T>A (p.Ala663=)
5g.141573796G>ACA361518668DIAPH1c.2054C>T (p.Ala685Val)
c.1922C>T (p.Ala641Val)
c.2027C>T (p.Ala676Val)
c.2018C>T (p.Ala673Val)
c.1988C>T (p.Ala663Val)
gnomAD v4
5g.141573796G>CCA361518670DIAPH1c.2054C>G (p.Ala685Gly)
c.1922C>G (p.Ala641Gly)
c.2027C>G (p.Ala676Gly)
c.2018C>G (p.Ala673Gly)
c.1988C>G (p.Ala663Gly)
5g.141573796G>TCA361518689DIAPH1c.2054C>A (p.Ala685Asp)
c.1922C>A (p.Ala641Asp)
c.2027C>A (p.Ala676Asp)
c.2018C>A (p.Ala673Asp)
c.1988C>A (p.Ala663Asp)
gnomAD v4
5g.141573797C>ACA361518694DIAPH1c.2053G>T (p.Ala685Ser)
c.1921G>T (p.Ala641Ser)
c.2026G>T (p.Ala676Ser)
c.2017G>T (p.Ala673Ser)
c.1987G>T (p.Ala663Ser)
dbSNP gnomAD v4
5g.141573797C>GCA361518697DIAPH1c.2053G>C (p.Ala685Pro)
c.1921G>C (p.Ala641Pro)
c.2026G>C (p.Ala676Pro)
c.2017G>C (p.Ala673Pro)
c.1987G>C (p.Ala663Pro)
5g.141573797C>TCA361518705DIAPH1c.2053G>A (p.Ala685Thr)
c.1921G>A (p.Ala641Thr)
c.2026G>A (p.Ala676Thr)
c.2017G>A (p.Ala673Thr)
c.1987G>A (p.Ala663Thr)
gnomAD v4
5g.141573798A>CCA361518709DIAPH1c.2052T>G (p.Ser684Arg)
c.1920T>G (p.Ser640Arg)
c.2025T>G (p.Ser675Arg)
c.2016T>G (p.Ser672Arg)
c.1986T>G (p.Ser662Arg)
gnomAD v3 gnomAD v4
5g.141573798A>GCA447088937DIAPH1c.2052T>C (p.Ser684=)
c.1920T>C (p.Ser640=)
c.2025T>C (p.Ser675=)
c.2016T>C (p.Ser672=)
c.1986T>C (p.Ser662=)
5g.141573798A>TCA361518726DIAPH1c.2052T>A (p.Ser684Arg)
c.1920T>A (p.Ser640Arg)
c.2025T>A (p.Ser675Arg)
c.2016T>A (p.Ser672Arg)
c.1986T>A (p.Ser662Arg)
gnomAD v4
5g.141573799C>ACA361518736DIAPH1c.2051G>T (p.Ser684Ile)
c.1919G>T (p.Ser640Ile)
c.2024G>T (p.Ser675Ile)
c.2015G>T (p.Ser672Ile)
c.1985G>T (p.Ser662Ile)
gnomAD v4
5g.141573799C>GCA361518746DIAPH1c.2051G>C (p.Ser684Thr)
c.1919G>C (p.Ser640Thr)
c.2024G>C (p.Ser675Thr)
c.2015G>C (p.Ser672Thr)
c.1985G>C (p.Ser662Thr)
5g.141573799C>TCA361518739DIAPH1c.2051G>A (p.Ser684Asn)
c.1919G>A (p.Ser640Asn)
c.2024G>A (p.Ser675Asn)
c.2015G>A (p.Ser672Asn)
c.1985G>A (p.Ser662Asn)
gnomAD v4
5g.141573800T>ACA361518756DIAPH1c.2050A>T (p.Ser684Cys)
c.1918A>T (p.Ser640Cys)
c.2023A>T (p.Ser675Cys)
c.2014A>T (p.Ser672Cys)
c.1984A>T (p.Ser662Cys)
ClinVar dbSNP gnomAD v4
5g.141573800T>CCA361518759DIAPH1c.2050A>G (p.Ser684Gly)
c.1918A>G (p.Ser640Gly)
c.2023A>G (p.Ser675Gly)
c.2014A>G (p.Ser672Gly)
c.1984A>G (p.Ser662Gly)
gnomAD v3 gnomAD v4
5g.141573800T>GCA361518761DIAPH1c.2050A>C (p.Ser684Arg)
c.1918A>C (p.Ser640Arg)
c.2023A>C (p.Ser675Arg)
c.2014A>C (p.Ser672Arg)
c.1984A>C (p.Ser662Arg)
5g.141573801C>ACA447088939DIAPH1c.2049G>T (p.Gly683=)
c.1917G>T (p.Gly639=)
c.2022G>T (p.Gly674=)
c.2013G>T (p.Gly671=)
c.1983G>T (p.Gly661=)
gnomAD v4
5g.141573801C>GCA447088940DIAPH1c.2049G>C (p.Gly683=)
c.1917G>C (p.Gly639=)
c.2022G>C (p.Gly674=)
c.2013G>C (p.Gly671=)
c.1983G>C (p.Gly661=)
5g.141573801C>TCA447088941DIAPH1c.2049G>A (p.Gly683=)
c.1917G>A (p.Gly639=)
c.2022G>A (p.Gly674=)
c.2013G>A (p.Gly671=)
c.1983G>A (p.Gly661=)
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.141573802C>ACA361518768DIAPH1c.2048G>T (p.Gly683Val)
c.1916G>T (p.Gly639Val)
c.2021G>T (p.Gly674Val)
c.2012G>T (p.Gly671Val)
c.1982G>T (p.Gly661Val)
gnomAD v4
5g.141573802C=CA1587247554DIAPH1c.2048G= (p.Gly683=)
c.1916G= (p.Gly639=)
c.2021G= (p.Gly674=)
c.2012G= (p.Gly671=)
c.1982G= (p.Gly661=)
5g.141573802C>GCA361518771DIAPH1c.2048G>C (p.Gly683Ala)
c.1916G>C (p.Gly639Ala)
c.2021G>C (p.Gly674Ala)
c.2012G>C (p.Gly671Ala)
c.1982G>C (p.Gly661Ala)
5g.141573802C>TCA361518781DIAPH1c.2048G>A (p.Gly683Glu)
c.1916G>A (p.Gly639Glu)
c.2021G>A (p.Gly674Glu)
c.2012G>A (p.Gly671Glu)
c.1982G>A (p.Gly661Glu)
dbSNP gnomAD v2 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)

Number of alleles fetched