Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.141573711_141573821del | CA2768670653 | DIAPH1 | c.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) | |
5 | g.141573732_141573809del | CA1082278647 | DIAPH1 | c.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 |
5 | g.141573748_141573825del | CA1082278652 | DIAPH1 | c.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 |
5 | g.141573749_141573825del | CA2768670658 | DIAPH1 | c.2031_2107del (p.Pro678ThrfsTer?) c.1899_1975del (p.Pro634ThrfsTer?) c.2004_2080del (p.Pro669ThrfsTer?) c.1995_2071del (p.Pro666ThrfsTer?) c.1965_2041del (p.Pro656ThrfsTer?) | |
5 | g.141573749_141573826del | CA1082278690 | DIAPH1 | c.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 |
5 | g.141573777_141573815dup | CA1082278704 | DIAPH1 | c.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 |
5 | g.141573777_141573815del | CA3479165 | DIAPH1 | c.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 |
5 | g.141573777_141573887del | CA2675691735 | DIAPH1 | c.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 |
5 | g.141573783_141573821dup | CA2675691737 | DIAPH1 | c.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 |
5 | g.141573783_141573821del | CA2740094098 | DIAPH1 | c.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 |
5 | g.141573780_141573817del | CA2529081523 | DIAPH1 | c.2034_2071del (p.Pro679ThrfsTer?) c.1902_1939del (p.Pro635ThrfsTer?) c.2007_2044del (p.Pro670ThrfsTer?) c.1998_2035del (p.Pro667ThrfsTer?) c.1968_2005del (p.Pro657ThrfsTer?) | |
5 | g.141573792_141573827del | CA2675691739 | DIAPH1 | c.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 |
5 | g.141573787_141573825del | CA2675691742 | DIAPH1 | c.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 |
5 | g.141573812_141573847dup | CA2573139309 | DIAPH1 | c.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 |
5 | g.141573816_141573887del | CA1082278749 | DIAPH1 | c.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 |
5 | g.141573804A>C | CA447088943 | DIAPH1 | c.2046T>G (p.Pro682=) c.1914T>G (p.Pro638=) c.2019T>G (p.Pro673=) c.2010T>G (p.Pro670=) c.1980T>G (p.Pro660=) | |
5 | g.141573804A>G | CA447088944 | DIAPH1 | c.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 |
5 | g.141573804A>T | CA447088945 | DIAPH1 | c.2046T>A (p.Pro682=) c.1914T>A (p.Pro638=) c.2019T>A (p.Pro673=) c.2010T>A (p.Pro670=) c.1980T>A (p.Pro660=) | |
5 | g.141573805G>A | CA361518798 | DIAPH1 | c.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 |
5 | g.141573805G>C | CA361518802 | DIAPH1 | c.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 |
5 | g.141573805G= | CA1587247562 | DIAPH1 | c.2045C= (p.Pro682=) c.1913C= (p.Pro638=) c.2018C= (p.Pro673=) c.2009C= (p.Pro670=) c.1979C= (p.Pro660=) | |
5 | g.141573805G>T | CA361518810 | DIAPH1 | c.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 |
5 | g.141573806G>A | CA361518817 | DIAPH1 | c.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 |
5 | g.141573806G>C | CA361518821 | DIAPH1 | c.2044C>G (p.Pro682Ala) c.1912C>G (p.Pro638Ala) c.2017C>G (p.Pro673Ala) c.2008C>G (p.Pro670Ala) c.1978C>G (p.Pro660Ala) | |
5 | g.141573806G>T | CA361518813 | DIAPH1 | c.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 |
5 | g.141573807C>A | CA361518822 | DIAPH1 | c.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 |
5 | g.141573807C>G | CA361518823 | DIAPH1 | c.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 |
5 | g.141573807C>T | CA447088947 | DIAPH1 | c.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 |
5 | g.141573807_141573809del | CA1082278752 | DIAPH1 | c.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 |
5 | g.141573808A>C | CA361518826 | DIAPH1 | c.2042T>G (p.Leu681Trp) c.1910T>G (p.Leu637Trp) c.2015T>G (p.Leu672Trp) c.2006T>G (p.Leu669Trp) c.1976T>G (p.Leu659Trp) | |
5 | g.141573808A>G | CA361518838 | DIAPH1 | c.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 |
5 | g.141573808A>T | CA361518846 | DIAPH1 | c.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 |
5 | g.141573809A= | CA1587247565 | DIAPH1 | c.2041T= (p.Leu681=) c.1909T= (p.Leu637=) c.2014T= (p.Leu672=) c.2005T= (p.Leu669=) c.1975T= (p.Leu659=) | |
5 | g.141573809A>C | CA361518856 | DIAPH1 | c.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 |
5 | g.141573809A>G | CA128437093 | DIAPH1 | c.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 |
5 | g.141573809A>T | CA361518851 | DIAPH1 | c.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 |
5 | g.141573810A= | CA1587247568 | DIAPH1 | c.2040T= (p.Pro680=) c.1908T= (p.Pro636=) c.2013T= (p.Pro671=) c.2004T= (p.Pro668=) c.1974T= (p.Pro658=) | |
5 | g.141573810A>C | CA447088178 | DIAPH1 | c.2040T>G (p.Pro680=) c.1908T>G (p.Pro636=) c.2013T>G (p.Pro671=) c.2004T>G (p.Pro668=) c.1974T>G (p.Pro658=) | |
5 | g.141573810A>G | CA447088177 | DIAPH1 | c.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 |
5 | g.141573810A>T | CA447088175 | DIAPH1 | c.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 |
5 | g.141573811G>A | CA361518864 | DIAPH1 | c.2039C>T (p.Pro680Leu) c.1907C>T (p.Pro636Leu) c.2012C>T (p.Pro671Leu) c.2003C>T (p.Pro668Leu) c.1973C>T (p.Pro658Leu) | |
5 | g.141573811G>C | CA361518867 | DIAPH1 | c.2039C>G (p.Pro680Arg) c.1907C>G (p.Pro636Arg) c.2012C>G (p.Pro671Arg) c.2003C>G (p.Pro668Arg) c.1973C>G (p.Pro658Arg) | |
5 | g.141573811G>T | CA361518871 | DIAPH1 | c.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 |
5 | g.141573812G>A | CA361518878 | DIAPH1 | c.2038C>T (p.Pro680Ser) c.1906C>T (p.Pro636Ser) c.2011C>T (p.Pro671Ser) c.2002C>T (p.Pro668Ser) c.1972C>T (p.Pro658Ser) | |
5 | g.141573812G>C | CA361518883 | DIAPH1 | c.2038C>G (p.Pro680Ala) c.1906C>G (p.Pro636Ala) c.2011C>G (p.Pro671Ala) c.2002C>G (p.Pro668Ala) c.1972C>G (p.Pro658Ala) | |
5 | g.141573812G>T | CA361518892 | DIAPH1 | c.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 |
5 | g.141573813A= | CA1587247571 | DIAPH1 | c.2037T= (p.Pro679=) c.1905T= (p.Pro635=) c.2010T= (p.Pro670=) c.2001T= (p.Pro667=) c.1971T= (p.Pro657=) | |
5 | g.141573813A>C | CA447088181 | DIAPH1 | c.2037T>G (p.Pro679=) c.1905T>G (p.Pro635=) c.2010T>G (p.Pro670=) c.2001T>G (p.Pro667=) c.1971T>G (p.Pro657=) | |
5 | g.141573813A>G | CA447088185 | DIAPH1 | c.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 |
5 | g.141573813A>T | CA447088184 | DIAPH1 | c.2037T>A (p.Pro679=) c.1905T>A (p.Pro635=) c.2010T>A (p.Pro670=) c.2001T>A (p.Pro667=) c.1971T>A (p.Pro657=) | |
5 | g.141573814G>A | CA3479172 | DIAPH1 | c.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 |
5 | g.141573814G>C | CA361518912 | DIAPH1 | c.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 |
5 | g.141573814G= | CA1587247582 | DIAPH1 | c.2036C= (p.Pro679=) c.1904C= (p.Pro635=) c.2009C= (p.Pro670=) c.2000C= (p.Pro667=) c.1970C= (p.Pro657=) | |
5 | g.141573814G>T | CA361518908 | DIAPH1 | c.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 |
5 | g.141573815_141573816insTGG | CA2675691748 | DIAPH1 | c.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 |
5 | g.141573815G>A | CA361518929 | DIAPH1 | c.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 |
5 | g.141573815G>C | CA361518931 | DIAPH1 | c.2035C>G (p.Pro679Ala) c.1903C>G (p.Pro635Ala) c.2008C>G (p.Pro670Ala) c.1999C>G (p.Pro667Ala) c.1969C>G (p.Pro657Ala) | |
5 | g.141573815G= | CA1587247588 | DIAPH1 | c.2035C= (p.Pro679=) c.1903C= (p.Pro635=) c.2008C= (p.Pro670=) c.1999C= (p.Pro667=) c.1969C= (p.Pro657=) | |
5 | g.141573815G>T | CA361518930 | DIAPH1 | c.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 |
5 | g.141573816A= | CA1587247594 | DIAPH1 | c.2034T= (p.Pro678=) c.1902T= (p.Pro634=) c.2007T= (p.Pro669=) c.1998T= (p.Pro666=) c.1968T= (p.Pro656=) | |
5 | g.141573816A>C | CA447088187 | DIAPH1 | c.2034T>G (p.Pro678=) c.1902T>G (p.Pro634=) c.2007T>G (p.Pro669=) c.1998T>G (p.Pro666=) c.1968T>G (p.Pro656=) | |
5 | g.141573816A>G | CA447088188 | DIAPH1 | c.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 |
5 | g.141573816A>T | CA447088189 | DIAPH1 | c.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 |
5 | g.141573817G>A | CA361518934 | DIAPH1 | c.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 |
5 | g.141573817G>C | CA361518951 | DIAPH1 | c.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 |
5 | g.141573817G= | CA1587247596 | DIAPH1 | c.2033C= (p.Pro678=) c.1901C= (p.Pro634=) c.2006C= (p.Pro669=) c.1997C= (p.Pro666=) c.1967C= (p.Pro656=) | |
5 | g.141573817G>T | CA361518952 | DIAPH1 | c.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 |
5 | g.141573822_141573893del | CA2675691749 | DIAPH1 | c.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 |
5 | g.141573822_141573929del | CA2768670695 | DIAPH1 | c.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) | |
5 | g.141573818G>A | CA3479173 | DIAPH1 | c.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 |
5 | g.141573818G>C | CA361518957 | DIAPH1 | c.2032C>G (p.Pro678Ala) c.1900C>G (p.Pro634Ala) c.2005C>G (p.Pro669Ala) c.1996C>G (p.Pro666Ala) c.1966C>G (p.Pro656Ala) | |
5 | g.141573818G= | CA1587247604 | DIAPH1 | c.2032C= (p.Pro678=) c.1900C= (p.Pro634=) c.2005C= (p.Pro669=) c.1996C= (p.Pro666=) c.1966C= (p.Pro656=) | |
5 | g.141573818G>T | CA361518960 | DIAPH1 | c.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 |
5 | g.141573819del | CA645558432 | DIAPH1 | c.2031del (p.Pro678LeufsTer?) c.1899del (p.Pro634LeufsTer?) c.2004del (p.Pro669LeufsTer?) c.1995del (p.Pro666LeufsTer?) c.1965del (p.Pro656LeufsTer?) | COSMIC |
5 | g.141573819T>A | CA447088190 | DIAPH1 | c.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 |
5 | g.141573819T>C | CA447088191 | DIAPH1 | c.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 |
5 | g.141573819T>G | CA447088193 | DIAPH1 | c.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 |
5 | g.141573819T= | CA1587247612 | DIAPH1 | c.2031A= (p.Pro677=) c.1899A= (p.Pro633=) c.2004A= (p.Pro668=) c.1995A= (p.Pro665=) c.1965A= (p.Pro655=) | |
5 | g.141573819_141573822delinsTGGG | CA1587247614 | DIAPH1 | c.2028_2031delinsCCCA (p.Pro676=) c.1896_1899delinsCCCA (p.Pro632=) c.2001_2004delinsCCCA (p.Pro667=) c.1992_1995delinsCCCA (p.Pro664=) c.1962_1965delinsCCCA (p.Pro654=) | |
5 | g.141573820G>A | CA361518974 | DIAPH1 | c.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 |
5 | g.141573820G>C | CA361518976 | DIAPH1 | c.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 |
5 | g.141573820G= | CA1587247632 | DIAPH1 | c.2030C= (p.Pro677=) c.1898C= (p.Pro633=) c.2003C= (p.Pro668=) c.1994C= (p.Pro665=) c.1964C= (p.Pro655=) | |
5 | g.141573820G>T | CA3479174 | DIAPH1 | c.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 |
5 | g.141573825dup | CA2675691750 | DIAPH1 | c.2030dup (p.Pro678ThrfsTer9) c.1898dup (p.Pro634ThrfsTer9) c.2003dup (p.Pro669ThrfsTer9) c.1994dup (p.Pro666ThrfsTer9) c.1964dup (p.Pro656ThrfsTer9) | gnomAD v4 |
5 | g.141573825del | CA645558433 | DIAPH1 | c.2030del (p.Pro677HisfsTer?) c.1898del (p.Pro633HisfsTer?) c.2003del (p.Pro668HisfsTer?) c.1994del (p.Pro665HisfsTer?) c.1964del (p.Pro655HisfsTer?) | gnomAD v4 COSMIC |
5 | g.141573823_141573825del | CA913108377 | DIAPH1 | c.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 |
5 | g.141573821G>A | CA361518996 | DIAPH1 | c.2029C>T (p.Pro677Ser) c.1897C>T (p.Pro633Ser) c.2002C>T (p.Pro668Ser) c.1993C>T (p.Pro665Ser) c.1963C>T (p.Pro655Ser) | |
5 | g.141573821G>C | CA361519001 | DIAPH1 | c.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 |
5 | g.141573821G>T | CA361519015 | DIAPH1 | c.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 |
5 | g.141573821_141573822insA | CA2675691751 | DIAPH1 | c.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 |
5 | g.141573822G>A | CA3479175 | DIAPH1 | c.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 |
5 | g.141573822G>C | CA447088196 | DIAPH1 | c.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 |
5 | g.141573822G= | CA1587247637 | DIAPH1 | c.2028C= (p.Pro676=) c.1896C= (p.Pro632=) c.2001C= (p.Pro667=) c.1992C= (p.Pro664=) c.1962C= (p.Pro654=) | |
5 | g.141573822G>T | CA447088197 | DIAPH1 | c.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 |
5 | g.141573823G>A | CA361519019 | DIAPH1 | c.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 |
5 | g.141573823G>C | CA3479176 | DIAPH1 | c.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 |
5 | g.141573823G= | CA1587247641 | DIAPH1 | c.2027C= (p.Pro676=) c.1895C= (p.Pro632=) c.2000C= (p.Pro667=) c.1991C= (p.Pro664=) c.1961C= (p.Pro654=) | |
5 | g.141573823G>T | CA361519027 | DIAPH1 | c.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 |
5 | g.141573830_141573901del | CA1082278789 | DIAPH1 | c.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 |
5 | g.141573823_141573824insA | CA2768670698 | DIAPH1 | c.2026_2027insT (p.Pro676LeufsTer11) c.1894_1895insT (p.Pro632LeufsTer11) c.1999_2000insT (p.Pro667LeufsTer11) c.1990_1991insT (p.Pro664LeufsTer11) c.1960_1961insT (p.Pro654LeufsTer11) | |
5 | g.141573824G>A | CA361519031 | DIAPH1 | c.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 |
5 | g.141573824G>C | CA361519032 | DIAPH1 | c.2026C>G (p.Pro676Ala) c.1894C>G (p.Pro632Ala) c.1999C>G (p.Pro667Ala) c.1990C>G (p.Pro664Ala) c.1960C>G (p.Pro654Ala) | |
5 | g.141573824G= | CA1587247649 | DIAPH1 | c.2026C= (p.Pro676=) c.1894C= (p.Pro632=) c.1999C= (p.Pro667=) c.1990C= (p.Pro664=) c.1960C= (p.Pro654=) | |
5 | g.141573824G>T | CA361519033 | DIAPH1 | c.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 |
5 | g.141573824_141573827delinsGGAT | CA1587247651 | DIAPH1 | c.2023_2026delinsATCC (p.Ile675=) c.1891_1894delinsATCC (p.Ile631=) c.1996_1999delinsATCC (p.Ile666=) c.1987_1990delinsATCC (p.Ile663=) c.1957_1960delinsATCC (p.Ile653=) | |
5 | g.141573825G>A | CA3479177 | DIAPH1 | c.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 |
5 | g.141573825G>C | CA361519038 | DIAPH1 | c.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 |
5 | g.141573825G= | CA1587247655 | DIAPH1 | c.2025C= (p.Ile675=) c.1893C= (p.Ile631=) c.1998C= (p.Ile666=) c.1989C= (p.Ile663=) c.1959C= (p.Ile653=) | |
5 | g.141573825G>T | CA447088203 | DIAPH1 | c.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 |
5 | g.141573826_141573828del | CA1587247654 | DIAPH1 | c.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 |
5 | g.141573826A>C | CA361519047 | DIAPH1 | c.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 |
5 | g.141573826A>G | CA361519048 | DIAPH1 | c.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 |
5 | g.141573826A>T | CA361519049 | DIAPH1 | c.2024T>A (p.Ile675Asn) c.1892T>A (p.Ile631Asn) c.1997T>A (p.Ile666Asn) c.1988T>A (p.Ile663Asn) c.1958T>A (p.Ile653Asn) | |
5 | g.141573826_141573827insG | CA2768670701 | DIAPH1 | c.2023_2024insC (p.Ile675ThrfsTer12) c.1891_1892insC (p.Ile631ThrfsTer12) c.1996_1997insC (p.Ile666ThrfsTer12) c.1987_1988insC (p.Ile663ThrfsTer12) c.1957_1958insC (p.Ile653ThrfsTer12) | |
5 | g.141573827T>A | CA361519052 | DIAPH1 | c.2023A>T (p.Ile675Phe) c.1891A>T (p.Ile631Phe) c.1996A>T (p.Ile666Phe) c.1987A>T (p.Ile663Phe) c.1957A>T (p.Ile653Phe) | |
5 | g.141573827T>C | CA361519053 | DIAPH1 | c.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 |
5 | g.141573827T>G | CA361519057 | DIAPH1 | c.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 |
5 | g.141573827T= | CA1587247658 | DIAPH1 | c.2023A= (p.Ile675=) c.1891A= (p.Ile631=) c.1996A= (p.Ile666=) c.1987A= (p.Ile663=) c.1957A= (p.Ile653=) | |
5 | g.141573828G>A | CA447088206 | DIAPH1 | c.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 |
5 | g.141573828G>C | CA447088207 | DIAPH1 | c.2022C>G (p.Ala674=) c.1890C>G (p.Ala630=) c.1995C>G (p.Ala665=) c.1986C>G (p.Ala662=) c.1956C>G (p.Ala652=) | |
5 | g.141573828G>T | CA447088208 | DIAPH1 | c.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 |
5 | g.141573829G>A | CA361519067 | DIAPH1 | c.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 |
5 | g.141573829G>C | CA361519071 | DIAPH1 | c.2021C>G (p.Ala674Gly) c.1889C>G (p.Ala630Gly) c.1994C>G (p.Ala665Gly) c.1985C>G (p.Ala662Gly) c.1955C>G (p.Ala652Gly) | |
5 | g.141573829G>T | CA361519070 | DIAPH1 | c.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 |
5 | g.141573830C>A | CA361519072 | DIAPH1 | c.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 |
5 | g.141573830C= | CA1587247659 | DIAPH1 | c.2020G= (p.Ala674=) c.1888G= (p.Ala630=) c.1993G= (p.Ala665=) c.1984G= (p.Ala662=) c.1954G= (p.Ala652=) | |
5 | g.141573830C>G | CA361519075 | DIAPH1 | c.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 |
5 | g.141573830C>T | CA361519079 | DIAPH1 | c.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 |
5 | g.141573831A= | CA1587247661 | DIAPH1 | c.2019T= (p.Thr673=) c.1887T= (p.Thr629=) c.1992T= (p.Thr664=) c.1983T= (p.Thr661=) c.1953T= (p.Thr651=) | |
5 | g.141573831A>C | CA447088213 | DIAPH1 | c.2019T>G (p.Thr673=) c.1887T>G (p.Thr629=) c.1992T>G (p.Thr664=) c.1983T>G (p.Thr661=) c.1953T>G (p.Thr651=) | |
5 | g.141573831A>G | CA447088214 | DIAPH1 | c.2019T>C (p.Thr673=) c.1887T>C (p.Thr629=) c.1992T>C (p.Thr664=) c.1983T>C (p.Thr661=) c.1953T>C (p.Thr651=) | |
5 | g.141573831A>T | CA447088215 | DIAPH1 | c.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 |
5 | g.141573832G>A | CA361519081 | DIAPH1 | c.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 |
5 | g.141573832G>C | CA128437158 | DIAPH1 | c.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 |
5 | g.141573832G= | CA1587247665 | DIAPH1 | c.2018C= (p.Thr673=) c.1886C= (p.Thr629=) c.1991C= (p.Thr664=) c.1982C= (p.Thr661=) c.1952C= (p.Thr651=) | |
5 | g.141573832G>T | CA361519084 | DIAPH1 | c.2018C>A (p.Thr673Asn) c.1886C>A (p.Thr629Asn) c.1991C>A (p.Thr664Asn) c.1982C>A (p.Thr661Asn) c.1952C>A (p.Thr651Asn) | |
5 | g.141573833del | CA645558434 | DIAPH1 | c.2017del (p.Thr673LeufsTer?) c.1885del (p.Thr629LeufsTer?) c.1990del (p.Thr664LeufsTer?) c.1981del (p.Thr661LeufsTer?) c.1951del (p.Thr651LeufsTer?) | COSMIC |
5 | g.141573833T>A | CA361519089 | DIAPH1 | c.2017A>T (p.Thr673Ser) c.1885A>T (p.Thr629Ser) c.1990A>T (p.Thr664Ser) c.1981A>T (p.Thr661Ser) c.1951A>T (p.Thr651Ser) | |
5 | g.141573833T>C | CA361519103 | DIAPH1 | c.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 |
5 | g.141573833T>G | CA361519115 | DIAPH1 | c.2017A>C (p.Thr673Pro) c.1885A>C (p.Thr629Pro) c.1990A>C (p.Thr664Pro) c.1981A>C (p.Thr661Pro) c.1951A>C (p.Thr651Pro) | |
5 | g.141573833T= | CA1587247668 | DIAPH1 | c.2017A= (p.Thr673=) c.1885A= (p.Thr629=) c.1990A= (p.Thr664=) c.1981A= (p.Thr661=) c.1951A= (p.Thr651=) | |
5 | g.141573834A>C | CA447088220 | DIAPH1 | c.2016T>G (p.Gly672=) c.1884T>G (p.Gly628=) c.1989T>G (p.Gly663=) c.1980T>G (p.Gly660=) c.1950T>G (p.Gly650=) | |
5 | g.141573834A>G | CA447088219 | DIAPH1 | c.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 |
5 | g.141573834A>T | CA447088218 | DIAPH1 | c.2016T>A (p.Gly672=) c.1884T>A (p.Gly628=) c.1989T>A (p.Gly663=) c.1980T>A (p.Gly660=) c.1950T>A (p.Gly650=) | |
5 | g.141573835C>A | CA361519120 | DIAPH1 | c.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 |
5 | g.141573835C= | CA1587247687 | DIAPH1 | c.2015G= (p.Gly672=) c.1883G= (p.Gly628=) c.1988G= (p.Gly663=) c.1979G= (p.Gly660=) c.1949G= (p.Gly650=) | |
5 | g.141573835C>G | CA361519125 | DIAPH1 | c.2015G>C (p.Gly672Ala) c.1883G>C (p.Gly628Ala) c.1988G>C (p.Gly663Ala) c.1979G>C (p.Gly660Ala) c.1949G>C (p.Gly650Ala) | |
5 | g.141573835C>T | CA361519129 | DIAPH1 | c.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 |
5 | g.141573836C>A | CA361519161 | DIAPH1 | c.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 |
5 | g.141573836C>G | CA361519147 | DIAPH1 | c.2014G>C (p.Gly672Arg) c.1882G>C (p.Gly628Arg) c.1987G>C (p.Gly663Arg) c.1978G>C (p.Gly660Arg) c.1948G>C (p.Gly650Arg) | |
5 | g.141573836C>T | CA361519152 | DIAPH1 | c.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 |
5 | g.141573837T>A | CA447088222 | DIAPH1 | c.2013A>T (p.Gly671=) c.1881A>T (p.Gly627=) c.1986A>T (p.Gly662=) c.1977A>T (p.Gly659=) c.1947A>T (p.Gly649=) | |
5 | g.141573837T>C | CA447088223 | DIAPH1 | c.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 |
5 | g.141573837T>G | CA447088224 | DIAPH1 | c.2013A>C (p.Gly671=) c.1881A>C (p.Gly627=) c.1986A>C (p.Gly662=) c.1977A>C (p.Gly659=) c.1947A>C (p.Gly649=) | |
5 | g.141573838C>A | CA361519166 | DIAPH1 | c.2012G>T (p.Gly671Val) c.1880G>T (p.Gly627Val) c.1985G>T (p.Gly662Val) c.1976G>T (p.Gly659Val) c.1946G>T (p.Gly649Val) | |
5 | g.141573838C>G | CA361519167 | DIAPH1 | c.2012G>C (p.Gly671Ala) c.1880G>C (p.Gly627Ala) c.1985G>C (p.Gly662Ala) c.1976G>C (p.Gly659Ala) c.1946G>C (p.Gly649Ala) | |
5 | g.141573838C>T | CA361519168 | DIAPH1 | c.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 |
5 | g.141573839C>A | CA361519170 | DIAPH1 | c.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 |
5 | g.141573839C= | CA1587247693 | DIAPH1 | c.2011G= (p.Gly671=) c.1879G= (p.Gly627=) c.1984G= (p.Gly662=) c.1975G= (p.Gly659=) c.1945G= (p.Gly649=) | |
5 | g.141573839C>G | CA361519171 | DIAPH1 | c.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 |
5 | g.141573839C>T | CA3479178 | DIAPH1 | c.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 |
5 | g.141573840A>C | CA447088226 | DIAPH1 | c.2010T>G (p.Pro670=) c.1878T>G (p.Pro626=) c.1983T>G (p.Pro661=) c.1974T>G (p.Pro658=) c.1944T>G (p.Pro648=) | |
5 | g.141573840A>G | CA447088229 | DIAPH1 | c.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 |
5 | g.141573840A>T | CA447088228 | DIAPH1 | c.2010T>A (p.Pro670=) c.1878T>A (p.Pro626=) c.1983T>A (p.Pro661=) c.1974T>A (p.Pro658=) c.1944T>A (p.Pro648=) | |
5 | g.141573841G>A | CA3479179 | DIAPH1 | c.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 |
5 | g.141573841G>C | CA361519200 | DIAPH1 | c.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 |
5 | g.141573841G= | CA1587247699 | DIAPH1 | c.2009C= (p.Pro670=) c.1877C= (p.Pro626=) c.1982C= (p.Pro661=) c.1973C= (p.Pro658=) c.1943C= (p.Pro648=) | |
5 | g.141573841G>T | CA361519202 | DIAPH1 | c.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 |
5 | g.141573842G>A | CA361519208 | DIAPH1 | c.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 |
5 | g.141573842G>C | CA361519209 | DIAPH1 | c.2008C>G (p.Pro670Ala) c.1876C>G (p.Pro626Ala) c.1981C>G (p.Pro661Ala) c.1972C>G (p.Pro658Ala) c.1942C>G (p.Pro648Ala) | |
5 | g.141573842G>T | CA361519210 | DIAPH1 | c.2008C>A (p.Pro670Thr) c.1876C>A (p.Pro626Thr) c.1981C>A (p.Pro661Thr) c.1972C>A (p.Pro658Thr) c.1942C>A (p.Pro648Thr) | |
5 | g.141573843C>A | CA361519213 | DIAPH1 | c.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 |
5 | g.141573843C= | CA1587247712 | DIAPH1 | c.2007G= (p.Leu669=) c.1875G= (p.Leu625=) c.1980G= (p.Leu660=) c.1971G= (p.Leu657=) c.1941G= (p.Leu647=) | |
5 | g.141573843C>G | CA361519211 | DIAPH1 | c.2007G>C (p.Leu669Phe) c.1875G>C (p.Leu625Phe) c.1980G>C (p.Leu660Phe) c.1971G>C (p.Leu657Phe) c.1941G>C (p.Leu647Phe) | |
5 | g.141573843C>T | CA447088234 | DIAPH1 | c.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 |
5 | g.141573844A>C | CA361519224 | DIAPH1 | c.2006T>G (p.Leu669Trp) c.1874T>G (p.Leu625Trp) c.1979T>G (p.Leu660Trp) c.1970T>G (p.Leu657Trp) c.1940T>G (p.Leu647Trp) | |
5 | g.141573844A>G | CA361519231 | DIAPH1 | c.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 |
5 | g.141573844A>T | CA361519225 | DIAPH1 | c.2006T>A (p.Leu669Ter) c.1874T>A (p.Leu625Ter) c.1979T>A (p.Leu660Ter) c.1970T>A (p.Leu657Ter) c.1940T>A (p.Leu647Ter) | |
5 | g.141573844_141573847delinsAAAG | CA1587247721 | DIAPH1 | c.2003_2006delinsCTTT (p.Ser668=) c.1871_1874delinsCTTT (p.Ser624=) c.1976_1979delinsCTTT (p.Ser659=) c.1967_1970delinsCTTT (p.Ser656=) c.1937_1940delinsCTTT (p.Ser646=) | |
5 | g.141573845A= | CA1587247725 | DIAPH1 | c.2005T= (p.Leu669=) c.1873T= (p.Leu625=) c.1978T= (p.Leu660=) c.1969T= (p.Leu657=) c.1939T= (p.Leu647=) | |
5 | g.141573845A>C | CA361519242 | DIAPH1 | c.2005T>G (p.Leu669Val) c.1873T>G (p.Leu625Val) c.1978T>G (p.Leu660Val) c.1969T>G (p.Leu657Val) c.1939T>G (p.Leu647Val) | |
5 | g.141573845A>G | CA447088237 | DIAPH1 | c.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 |
5 | g.141573845A>T | CA361519247 | DIAPH1 | c.2005T>A (p.Leu669Met) c.1873T>A (p.Leu625Met) c.1978T>A (p.Leu660Met) c.1969T>A (p.Leu657Met) c.1939T>A (p.Leu647Met) | |
5 | g.141573849_141573851del | CA804796694 | DIAPH1 | c.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 |
5 | g.141573846A>C | CA447088239 | DIAPH1 | c.2004T>G (p.Ser668=) c.1872T>G (p.Ser624=) c.1977T>G (p.Ser659=) c.1968T>G (p.Ser656=) c.1938T>G (p.Ser646=) | |
5 | g.141573846A>G | CA447088240 | DIAPH1 | c.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 |
5 | g.141573846A>T | CA447088241 | DIAPH1 | c.2004T>A (p.Ser668=) c.1872T>A (p.Ser624=) c.1977T>A (p.Ser659=) c.1968T>A (p.Ser656=) c.1938T>A (p.Ser646=) | |
5 | g.141573847G>A | CA361519253 | DIAPH1 | c.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 |
5 | g.141573847G>C | CA361519258 | DIAPH1 | c.2003C>G (p.Ser668Cys) c.1871C>G (p.Ser624Cys) c.1976C>G (p.Ser659Cys) c.1967C>G (p.Ser656Cys) c.1937C>G (p.Ser646Cys) | |
5 | g.141573847G= | CA1587247729 | DIAPH1 | c.2003C= (p.Ser668=) c.1871C= (p.Ser624=) c.1976C= (p.Ser659=) c.1967C= (p.Ser656=) c.1937C= (p.Ser646=) | |
5 | g.141573847G>T | CA361519256 | DIAPH1 | c.2003C>A (p.Ser668Tyr) c.1871C>A (p.Ser624Tyr) c.1976C>A (p.Ser659Tyr) c.1967C>A (p.Ser656Tyr) c.1937C>A (p.Ser646Tyr) | |
5 | g.141573848A>C | CA361519264 | DIAPH1 | c.2002T>G (p.Ser668Ala) c.1870T>G (p.Ser624Ala) c.1975T>G (p.Ser659Ala) c.1966T>G (p.Ser656Ala) c.1936T>G (p.Ser646Ala) | |
5 | g.141573848A>G | CA361519273 | DIAPH1 | c.2002T>C (p.Ser668Pro) c.1870T>C (p.Ser624Pro) c.1975T>C (p.Ser659Pro) c.1966T>C (p.Ser656Pro) c.1936T>C (p.Ser646Pro) | |
5 | g.141573848A>T | CA361519270 | DIAPH1 | c.2002T>A (p.Ser668Thr) c.1870T>A (p.Ser624Thr) c.1975T>A (p.Ser659Thr) c.1966T>A (p.Ser656Thr) c.1936T>A (p.Ser646Thr) | |
5 | g.141573849A>C | CA447088254 | DIAPH1 | c.2001T>G (p.Ser667=) c.1869T>G (p.Ser623=) c.1974T>G (p.Ser658=) c.1965T>G (p.Ser655=) c.1935T>G (p.Ser645=) | |
5 | g.141573849A>G | CA447088256 | DIAPH1 | c.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 |
5 | g.141573849A>T | CA447088257 | DIAPH1 | c.2001T>A (p.Ser667=) c.1869T>A (p.Ser623=) c.1974T>A (p.Ser658=) c.1965T>A (p.Ser655=) c.1935T>A (p.Ser645=) | |
5 | g.141573850G>A | CA361519282 | DIAPH1 | c.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 |
5 | g.141573850G>C | CA361519285 | DIAPH1 | c.2000C>G (p.Ser667Cys) c.1868C>G (p.Ser623Cys) c.1973C>G (p.Ser658Cys) c.1964C>G (p.Ser655Cys) c.1934C>G (p.Ser645Cys) | |
5 | g.141573850G>T | CA361519289 | DIAPH1 | c.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 |
5 | g.141573851A>C | CA361519293 | DIAPH1 | c.1999T>G (p.Ser667Ala) c.1867T>G (p.Ser623Ala) c.1972T>G (p.Ser658Ala) c.1963T>G (p.Ser655Ala) c.1933T>G (p.Ser645Ala) | |
5 | g.141573851A>G | CA361519294 | DIAPH1 | c.1999T>C (p.Ser667Pro) c.1867T>C (p.Ser623Pro) c.1972T>C (p.Ser658Pro) c.1963T>C (p.Ser655Pro) c.1933T>C (p.Ser645Pro) | |
5 | g.141573851A>T | CA361519296 | DIAPH1 | c.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 |
5 | g.141573852G>A | CA447088264 | DIAPH1 | c.1998C>T (p.Pro666=) c.1866C>T (p.Pro622=) c.1971C>T (p.Pro657=) c.1962C>T (p.Pro654=) c.1932C>T (p.Pro644=) | |
5 | g.141573852G>C | CA447088265 | DIAPH1 | c.1998C>G (p.Pro666=) c.1866C>G (p.Pro622=) c.1971C>G (p.Pro657=) c.1962C>G (p.Pro654=) c.1932C>G (p.Pro644=) | |
5 | g.141573852G>T | CA447088267 | DIAPH1 | c.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 |
5 | g.141573853G>A | CA361519302 | DIAPH1 | c.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 |
5 | g.141573853G>C | CA361519304 | DIAPH1 | c.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 |
5 | g.141573853G>T | CA361519305 | DIAPH1 | c.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 |
5 | g.141573854G>A | CA361519309 | DIAPH1 | c.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 |
5 | g.141573854G>C | CA361519317 | DIAPH1 | c.1996C>G (p.Pro666Ala) c.1864C>G (p.Pro622Ala) c.1969C>G (p.Pro657Ala) c.1960C>G (p.Pro654Ala) c.1930C>G (p.Pro644Ala) | |
5 | g.141573854G= | CA1587247731 | DIAPH1 | c.1996C= (p.Pro666=) c.1864C= (p.Pro622=) c.1969C= (p.Pro657=) c.1960C= (p.Pro654=) c.1930C= (p.Pro644=) | |
5 | g.141573854G>T | CA361519322 | DIAPH1 | c.1996C>A (p.Pro666Thr) c.1864C>A (p.Pro622Thr) c.1969C>A (p.Pro657Thr) c.1960C>A (p.Pro654Thr) c.1930C>A (p.Pro644Thr) | |
5 | g.141573855T>A | CA447088270 | DIAPH1 | c.1995A>T (p.Ser665=) c.1863A>T (p.Ser621=) c.1968A>T (p.Ser656=) c.1959A>T (p.Ser653=) c.1929A>T (p.Ser643=) | |
5 | g.141573855T>C | CA447088272 | DIAPH1 | c.1995A>G (p.Ser665=) c.1863A>G (p.Ser621=) c.1968A>G (p.Ser656=) c.1959A>G (p.Ser653=) c.1929A>G (p.Ser643=) | |
5 | g.141573855T>G | CA447088274 | DIAPH1 | c.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 |
5 | g.141573855T= | CA1587247733 | DIAPH1 | c.1995A= (p.Ser665=) c.1863A= (p.Ser621=) c.1968A= (p.Ser656=) c.1959A= (p.Ser653=) c.1929A= (p.Ser643=) | |
5 | g.141573855dup | CA2675691752 | DIAPH1 | c.1995dup (p.Pro666ThrfsTer21) c.1863dup (p.Pro622ThrfsTer21) c.1968dup (p.Pro657ThrfsTer21) c.1959dup (p.Pro654ThrfsTer21) c.1929dup (p.Pro644ThrfsTer21) | gnomAD v4 |
5 | g.141573856G>A | CA361519323 | DIAPH1 | c.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 |
5 | g.141573856G>C | CA361519327 | DIAPH1 | c.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 |
5 | g.141573856G= | CA1587247735 | DIAPH1 | c.1994C= (p.Ser665=) c.1862C= (p.Ser621=) c.1967C= (p.Ser656=) c.1958C= (p.Ser653=) c.1928C= (p.Ser643=) | |
5 | g.141573856G>T | CA361519324 | DIAPH1 | c.1994C>A (p.Ser665Ter) c.1862C>A (p.Ser621Ter) c.1967C>A (p.Ser656Ter) c.1958C>A (p.Ser653Ter) c.1928C>A (p.Ser643Ter) | |
5 | g.141573857A>C | CA361519331 | DIAPH1 | c.1993T>G (p.Ser665Ala) c.1861T>G (p.Ser621Ala) c.1966T>G (p.Ser656Ala) c.1957T>G (p.Ser653Ala) c.1927T>G (p.Ser643Ala) | |
5 | g.141573857A>G | CA361519332 | DIAPH1 | c.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 |
5 | g.141573857A>T | CA361519335 | DIAPH1 | c.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 |
5 | g.141573858A>C | CA447088277 | DIAPH1 | c.1992T>G (p.Pro664=) c.1860T>G (p.Pro620=) c.1965T>G (p.Pro655=) c.1956T>G (p.Pro652=) c.1926T>G (p.Pro642=) | |
5 | g.141573858A>G | CA447088278 | DIAPH1 | c.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 |
5 | g.141573858A>T | CA447088280 | DIAPH1 | c.1992T>A (p.Pro664=) c.1860T>A (p.Pro620=) c.1965T>A (p.Pro655=) c.1956T>A (p.Pro652=) c.1926T>A (p.Pro642=) | |
5 | g.141573858_141573859insCCCA | CA2675691753 | DIAPH1 | c.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 |
5 | g.141573859G>A | CA361519359 | DIAPH1 | c.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 |
5 | g.141573859G>C | CA361519364 | DIAPH1 | c.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 |
5 | g.141573859G= | CA1587247738 | DIAPH1 | c.1991C= (p.Pro664=) c.1859C= (p.Pro620=) c.1964C= (p.Pro655=) c.1955C= (p.Pro652=) c.1925C= (p.Pro642=) | |
5 | g.141573859G>T | CA361519374 | DIAPH1 | c.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 |
5 | g.141573860G>A | CA361519381 | DIAPH1 | c.1990C>T (p.Pro664Ser) c.1858C>T (p.Pro620Ser) c.1963C>T (p.Pro655Ser) c.1954C>T (p.Pro652Ser) c.1924C>T (p.Pro642Ser) | |
5 | g.141573860G>C | CA361519382 | DIAPH1 | c.1990C>G (p.Pro664Ala) c.1858C>G (p.Pro620Ala) c.1963C>G (p.Pro655Ala) c.1954C>G (p.Pro652Ala) c.1924C>G (p.Pro642Ala) | |
5 | g.141573860G>T | CA361519383 | DIAPH1 | c.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 |
5 | g.141573861_141573864del | CA2675691754 | DIAPH1 | c.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 |
5 | g.141573861G>A | CA447088286 | DIAPH1 | c.1989C>T (p.Ile663=) c.1857C>T (p.Ile619=) c.1962C>T (p.Ile654=) c.1953C>T (p.Ile651=) c.1923C>T (p.Ile641=) | |
5 | g.141573861G>C | CA361519387 | DIAPH1 | c.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 |
5 | g.141573861G= | CA1587247740 | DIAPH1 | c.1989C= (p.Ile663=) c.1857C= (p.Ile619=) c.1962C= (p.Ile654=) c.1953C= (p.Ile651=) c.1923C= (p.Ile641=) | |
5 | g.141573861G>T | CA447088284 | DIAPH1 | c.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 |
5 | g.141573862A>C | CA361519400 | DIAPH1 | c.1988T>G (p.Ile663Ser) c.1856T>G (p.Ile619Ser) c.1961T>G (p.Ile654Ser) c.1952T>G (p.Ile651Ser) c.1922T>G (p.Ile641Ser) | |
5 | g.141573862A>G | CA361519391 | DIAPH1 | c.1988T>C (p.Ile663Thr) c.1856T>C (p.Ile619Thr) c.1961T>C (p.Ile654Thr) c.1952T>C (p.Ile651Thr) c.1922T>C (p.Ile641Thr) | |
5 | g.141573862A>T | CA361519393 | DIAPH1 | c.1988T>A (p.Ile663Asn) c.1856T>A (p.Ile619Asn) c.1961T>A (p.Ile654Asn) c.1952T>A (p.Ile651Asn) c.1922T>A (p.Ile641Asn) | |
5 | g.141573863T>A | CA361519405 | DIAPH1 | c.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 |
5 | g.141573863T>C | CA361519406 | DIAPH1 | c.1987A>G (p.Ile663Val) c.1855A>G (p.Ile619Val) c.1960A>G (p.Ile654Val) c.1951A>G (p.Ile651Val) c.1921A>G (p.Ile641Val) | |
5 | g.141573863T>G | CA361519411 | DIAPH1 | c.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 |
5 | g.141573863T= | CA1587247745 | DIAPH1 | c.1987A= (p.Ile663=) c.1855A= (p.Ile619=) c.1960A= (p.Ile654=) c.1951A= (p.Ile651=) c.1921A= (p.Ile641=) | |
5 | g.141573864G>A | CA3479180 | DIAPH1 | c.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 |
5 | g.141573864G>C | CA447088295 | DIAPH1 | c.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 |
5 | g.141573864G= | CA1587247748 | DIAPH1 | c.1986C= (p.Gly662=) c.1854C= (p.Gly618=) c.1959C= (p.Gly653=) c.1950C= (p.Gly650=) c.1920C= (p.Gly640=) | |
5 | g.141573864G>T | CA447088292 | DIAPH1 | c.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 |
5 | g.141573865C>A | CA361519418 | DIAPH1 | c.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 |
5 | g.141573865C= | CA1587247751 | DIAPH1 | c.1985G= (p.Gly662=) c.1853G= (p.Gly618=) c.1958G= (p.Gly653=) c.1949G= (p.Gly650=) c.1919G= (p.Gly640=) | |
5 | g.141573865C>G | CA361519422 | DIAPH1 | c.1985G>C (p.Gly662Ala) c.1853G>C (p.Gly618Ala) c.1958G>C (p.Gly653Ala) c.1949G>C (p.Gly650Ala) c.1919G>C (p.Gly640Ala) | |
5 | g.141573865C>T | CA3479181 | DIAPH1 | c.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 |
5 | g.141573866C>A | CA3479182 | DIAPH1 | c.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 |
5 | g.141573866C= | CA1587247756 | DIAPH1 | c.1984G= (p.Gly662=) c.1852G= (p.Gly618=) c.1957G= (p.Gly653=) c.1948G= (p.Gly650=) c.1918G= (p.Gly640=) | |
5 | g.141573866C>G | CA361519435 | DIAPH1 | c.1984G>C (p.Gly662Arg) c.1852G>C (p.Gly618Arg) c.1957G>C (p.Gly653Arg) c.1948G>C (p.Gly650Arg) c.1918G>C (p.Gly640Arg) | |
5 | g.141573866C>T | CA361519443 | DIAPH1 | c.1984G>A (p.Gly662Ser) c.1852G>A (p.Gly618Ser) c.1957G>A (p.Gly653Ser) c.1948G>A (p.Gly650Ser) c.1918G>A (p.Gly640Ser) | |
5 | g.141573867A>C | CA447088299 | DIAPH1 | c.1983T>G (p.Val661=) c.1851T>G (p.Val617=) c.1956T>G (p.Val652=) c.1947T>G (p.Val649=) c.1917T>G (p.Val639=) | |
5 | g.141573867A>G | CA447088301 | DIAPH1 | c.1983T>C (p.Val661=) c.1851T>C (p.Val617=) c.1956T>C (p.Val652=) c.1947T>C (p.Val649=) c.1917T>C (p.Val639=) | |
5 | g.141573867A>T | CA447088300 | DIAPH1 | c.1983T>A (p.Val661=) c.1851T>A (p.Val617=) c.1956T>A (p.Val652=) c.1947T>A (p.Val649=) c.1917T>A (p.Val639=) | |
5 | g.141573868A>C | CA361519462 | DIAPH1 | c.1982T>G (p.Val661Gly) c.1850T>G (p.Val617Gly) c.1955T>G (p.Val652Gly) c.1946T>G (p.Val649Gly) c.1916T>G (p.Val639Gly) | |
5 | g.141573868A>G | CA361519452 | DIAPH1 | c.1982T>C (p.Val661Ala) c.1850T>C (p.Val617Ala) c.1955T>C (p.Val652Ala) c.1946T>C (p.Val649Ala) c.1916T>C (p.Val639Ala) | |
5 | g.141573868A>T | CA361519458 | DIAPH1 | c.1982T>A (p.Val661Asp) c.1850T>A (p.Val617Asp) c.1955T>A (p.Val652Asp) c.1946T>A (p.Val649Asp) c.1916T>A (p.Val639Asp) | |
5 | g.141573869C>A | CA361519470 | DIAPH1 | c.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 |
5 | g.141573869C>G | CA361519473 | DIAPH1 | c.1981G>C (p.Val661Leu) c.1849G>C (p.Val617Leu) c.1954G>C (p.Val652Leu) c.1945G>C (p.Val649Leu) c.1915G>C (p.Val639Leu) | |
5 | g.141573869C>T | CA361519474 | DIAPH1 | c.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 |
5 | g.141573870A= | CA1587247765 | DIAPH1 | c.1980T= (p.Gly660=) c.1848T= (p.Gly616=) c.1953T= (p.Gly651=) c.1944T= (p.Gly648=) c.1914T= (p.Gly638=) | |
5 | g.141573870A>C | CA447088305 | DIAPH1 | c.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 |
5 | g.141573870A>G | CA447088308 | DIAPH1 | c.1980T>C (p.Gly660=) c.1848T>C (p.Gly616=) c.1953T>C (p.Gly651=) c.1944T>C (p.Gly648=) c.1914T>C (p.Gly638=) | |
5 | g.141573870A>T | CA447088311 | DIAPH1 | c.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 |
5 | g.141573871C>A | CA3479183 | DIAPH1 | c.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 |
5 | g.141573871C= | CA1587247768 | DIAPH1 | c.1979G= (p.Gly660=) c.1847G= (p.Gly616=) c.1952G= (p.Gly651=) c.1943G= (p.Gly648=) c.1913G= (p.Gly638=) | |
5 | g.141573871C>G | CA361519477 | DIAPH1 | c.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 |
5 | g.141573871C>T | CA361519500 | DIAPH1 | c.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 |
5 | g.141573872C>A | CA361519540 | DIAPH1 | c.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 |
5 | g.141573872C>G | CA361519541 | DIAPH1 | c.1978G>C (p.Gly660Arg) c.1846G>C (p.Gly616Arg) c.1951G>C (p.Gly651Arg) c.1942G>C (p.Gly648Arg) c.1912G>C (p.Gly638Arg) | |
5 | g.141573872C>T | CA361519542 | DIAPH1 | c.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 |
5 | g.141573873C>A | CA361519543 | DIAPH1 | c.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 |
5 | g.141573873C>G | CA361519546 | DIAPH1 | c.1977G>C (p.Glu659Asp) c.1845G>C (p.Glu615Asp) c.1950G>C (p.Glu650Asp) c.1941G>C (p.Glu647Asp) c.1911G>C (p.Glu637Asp) | |
5 | g.141573873C>T | CA447088316 | DIAPH1 | c.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 |
5 | g.141573874T>A | CA361519560 | DIAPH1 | c.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 |
5 | g.141573874T>C | CA361519565 | DIAPH1 | c.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 |
5 | g.141573874T>G | CA361519556 | DIAPH1 | c.1976A>C (p.Glu659Ala) c.1844A>C (p.Glu615Ala) c.1949A>C (p.Glu650Ala) c.1940A>C (p.Glu647Ala) c.1910A>C (p.Glu637Ala) | |
5 | g.141573874_141573982delinsTCAGGCAAAGGAGGGGGTGGAGGGATGGTAGCATCCCCAGACAAAGGAGGGGGTGGAGAGATAGCAGTACCTCCAGGTAAAGAAGGGGGTGAGGAGATGCAAACACCCC | CA1587247773 | DIAPH1 | c.1868_1976delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly623=) c.1736_1844delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly579=) c.1841_1949delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly614=) c.1832_1940delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly611=) c.1802_1910delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly601=) | |
5 | g.141573875C>A | CA361519570 | DIAPH1 | c.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 |
5 | g.141573875C>G | CA361519580 | DIAPH1 | c.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 |
5 | g.141573875C>T | CA361519581 | DIAPH1 | c.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 |
5 | g.141573888_141573995del | CA1082278862 | DIAPH1 | c.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 |
5 | g.141573876A= | CA1587247777 | DIAPH1 | c.1974T= (p.Pro658=) c.1842T= (p.Pro614=) c.1947T= (p.Pro649=) c.1938T= (p.Pro646=) c.1908T= (p.Pro636=) | |
5 | g.141573876A>C | CA447088322 | DIAPH1 | c.1974T>G (p.Pro658=) c.1842T>G (p.Pro614=) c.1947T>G (p.Pro649=) c.1938T>G (p.Pro646=) c.1908T>G (p.Pro636=) | |
5 | g.141573876A>G | CA3479184 | DIAPH1 | c.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 |
5 | g.141573876A>T | CA447088323 | DIAPH1 | c.1974T>A (p.Pro658=) c.1842T>A (p.Pro614=) c.1947T>A (p.Pro649=) c.1938T>A (p.Pro646=) c.1908T>A (p.Pro636=) | |
5 | g.141573877G>A | CA361519585 | DIAPH1 | c.1973C>T (p.Pro658Leu) c.1841C>T (p.Pro614Leu) c.1946C>T (p.Pro649Leu) c.1937C>T (p.Pro646Leu) c.1907C>T (p.Pro636Leu) | |
5 | g.141573877G>C | CA361519595 | DIAPH1 | c.1973C>G (p.Pro658Arg) c.1841C>G (p.Pro614Arg) c.1946C>G (p.Pro649Arg) c.1937C>G (p.Pro646Arg) c.1907C>G (p.Pro636Arg) | |
5 | g.141573877G>T | CA361519598 | DIAPH1 | c.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 |
5 | g.141573877_141573879delinsGGC | CA1587247778 | DIAPH1 | c.1971_1973delinsGCC (p.Leu657=) c.1839_1841delinsGCC (p.Leu613=) c.1944_1946delinsGCC (p.Leu648=) c.1935_1937delinsGCC (p.Leu645=) c.1905_1907delinsGCC (p.Leu635=) | |
5 | g.141573878G>A | CA361519605 | DIAPH1 | c.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 |
5 | g.141573878G>C | CA361519610 | DIAPH1 | c.1972C>G (p.Pro658Ala) c.1840C>G (p.Pro614Ala) c.1945C>G (p.Pro649Ala) c.1936C>G (p.Pro646Ala) c.1906C>G (p.Pro636Ala) | |
5 | g.141573878G>T | CA361519612 | DIAPH1 | c.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 |
5 | g.141573878_141573879delinsA | CA16618132 | DIAPH1 | c.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 |
5 | g.141573879C>A | CA361519615 | DIAPH1 | c.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 |
5 | g.141573879C>G | CA361519616 | DIAPH1 | c.1971G>C (p.Leu657Phe) c.1839G>C (p.Leu613Phe) c.1944G>C (p.Leu648Phe) c.1935G>C (p.Leu645Phe) c.1905G>C (p.Leu635Phe) | |
5 | g.141573879C>T | CA447088330 | DIAPH1 | c.1971G>A (p.Leu657=) c.1839G>A (p.Leu613=) c.1944G>A (p.Leu648=) c.1935G>A (p.Leu645=) c.1905G>A (p.Leu635=) | |
5 | g.141573896_141573931del | CA1082278866 | DIAPH1 | c.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 |
5 | g.141573880A>C | CA361519626 | DIAPH1 | c.1970T>G (p.Leu657Trp) c.1838T>G (p.Leu613Trp) c.1943T>G (p.Leu648Trp) c.1934T>G (p.Leu645Trp) c.1904T>G (p.Leu635Trp) | |
5 | g.141573880A>G | CA361519620 | DIAPH1 | c.1970T>C (p.Leu657Ser) c.1838T>C (p.Leu613Ser) c.1943T>C (p.Leu648Ser) c.1934T>C (p.Leu645Ser) c.1904T>C (p.Leu635Ser) | |
5 | g.141573880A>T | CA361519617 | DIAPH1 | c.1970T>A (p.Leu657Ter) c.1838T>A (p.Leu613Ter) c.1943T>A (p.Leu648Ter) c.1934T>A (p.Leu645Ter) c.1904T>A (p.Leu635Ter) | |
5 | g.141573881A>C | CA361519627 | DIAPH1 | c.1969T>G (p.Leu657Val) c.1837T>G (p.Leu613Val) c.1942T>G (p.Leu648Val) c.1933T>G (p.Leu645Val) c.1903T>G (p.Leu635Val) | |
5 | g.141573881A>G | CA447088332 | DIAPH1 | c.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 |
5 | g.141573881A>T | CA361519628 | DIAPH1 | c.1969T>A (p.Leu657Met) c.1837T>A (p.Leu613Met) c.1942T>A (p.Leu648Met) c.1933T>A (p.Leu645Met) c.1903T>A (p.Leu635Met) | |
5 | g.141573882A>C | CA447088335 | DIAPH1 | c.1968T>G (p.Pro656=) c.1836T>G (p.Pro612=) c.1941T>G (p.Pro647=) c.1932T>G (p.Pro644=) c.1902T>G (p.Pro634=) | |
5 | g.141573882A>G | CA447088342 | DIAPH1 | c.1968T>C (p.Pro656=) c.1836T>C (p.Pro612=) c.1941T>C (p.Pro647=) c.1932T>C (p.Pro644=) c.1902T>C (p.Pro634=) | |
5 | g.141573882A>T | CA447088338 | DIAPH1 | c.1968T>A (p.Pro656=) c.1836T>A (p.Pro612=) c.1941T>A (p.Pro647=) c.1932T>A (p.Pro644=) c.1902T>A (p.Pro634=) | |
5 | g.141573883G>A | CA361519630 | DIAPH1 | c.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 |
5 | g.141573883G>C | CA361519634 | DIAPH1 | c.1967C>G (p.Pro656Arg) c.1835C>G (p.Pro612Arg) c.1940C>G (p.Pro647Arg) c.1931C>G (p.Pro644Arg) c.1901C>G (p.Pro634Arg) | |
5 | g.141573883G= | CA1587247785 | DIAPH1 | c.1967C= (p.Pro656=) c.1835C= (p.Pro612=) c.1940C= (p.Pro647=) c.1931C= (p.Pro644=) c.1901C= (p.Pro634=) | |
5 | g.141573883G>T | CA361519636 | DIAPH1 | c.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 |
5 | g.141573884G>A | CA361519637 | DIAPH1 | c.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 |
5 | g.141573884G>C | CA361519638 | DIAPH1 | c.1966C>G (p.Pro656Ala) c.1834C>G (p.Pro612Ala) c.1939C>G (p.Pro647Ala) c.1930C>G (p.Pro644Ala) c.1900C>G (p.Pro634Ala) | |
5 | g.141573884G>T | CA361519639 | DIAPH1 | c.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 |
5 | g.141573885A= | CA1587247789 | DIAPH1 | c.1965T= (p.Pro655=) c.1833T= (p.Pro611=) c.1938T= (p.Pro646=) c.1929T= (p.Pro643=) c.1899T= (p.Pro633=) | |
5 | g.141573885A>C | CA447088344 | DIAPH1 | c.1965T>G (p.Pro655=) c.1833T>G (p.Pro611=) c.1938T>G (p.Pro646=) c.1929T>G (p.Pro643=) c.1899T>G (p.Pro633=) | |
5 | g.141573885A>G | CA447088345 | DIAPH1 | c.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 |
5 | g.141573885A>T | CA447088346 | DIAPH1 | c.1965T>A (p.Pro655=) c.1833T>A (p.Pro611=) c.1938T>A (p.Pro646=) c.1929T>A (p.Pro643=) c.1899T>A (p.Pro633=) | |
5 | g.141573886G>A | CA361519642 | DIAPH1 | c.1964C>T (p.Pro655Leu) c.1832C>T (p.Pro611Leu) c.1937C>T (p.Pro646Leu) c.1928C>T (p.Pro643Leu) c.1898C>T (p.Pro633Leu) | |
5 | g.141573886G>C | CA3479185 | DIAPH1 | c.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 |
5 | g.141573886G= | CA1587247796 | DIAPH1 | c.1964C= (p.Pro655=) c.1832C= (p.Pro611=) c.1937C= (p.Pro646=) c.1928C= (p.Pro643=) c.1898C= (p.Pro633=) | |
5 | g.141573886G>T | CA10620385 | DIAPH1 | c.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 |
5 | g.141573890del | CA2675691755 | DIAPH1 | c.1964del (p.Pro655LeufsTer?) c.1832del (p.Pro611LeufsTer?) c.1937del (p.Pro646LeufsTer?) c.1928del (p.Pro643LeufsTer?) c.1898del (p.Pro633LeufsTer?) | dbSNP gnomAD v4 |
5 | g.141573888_141573890del | CA2675691756 | DIAPH1 | c.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 |
5 | g.141573887G>A | CA361519647 | DIAPH1 | c.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 |
5 | g.141573887G>C | CA3479186 | DIAPH1 | c.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 |
5 | g.141573887G= | CA1587247815 | DIAPH1 | c.1963C= (p.Pro655=) c.1831C= (p.Pro611=) c.1936C= (p.Pro646=) c.1927C= (p.Pro643=) c.1897C= (p.Pro633=) | |
5 | g.141573887G>T | CA361519651 | DIAPH1 | c.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 |
5 | g.141573888G>A | CA447088356 | DIAPH1 | c.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 |
5 | g.141573888G>C | CA447088354 | DIAPH1 | c.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 |
5 | g.141573888G= | CA1587247823 | DIAPH1 | c.1962C= (p.Pro654=) c.1830C= (p.Pro610=) c.1935C= (p.Pro645=) c.1926C= (p.Pro642=) c.1896C= (p.Pro632=) | |
5 | g.141573888G>T | CA447088355 | DIAPH1 | c.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 |
5 | g.141573889G>A | CA361519657 | DIAPH1 | c.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 |
5 | g.141573889G>C | CA361519661 | DIAPH1 | c.1961C>G (p.Pro654Arg) c.1829C>G (p.Pro610Arg) c.1934C>G (p.Pro645Arg) c.1925C>G (p.Pro642Arg) c.1895C>G (p.Pro632Arg) | |
5 | g.141573889G= | CA1587247826 | DIAPH1 | c.1961C= (p.Pro654=) c.1829C= (p.Pro610=) c.1934C= (p.Pro645=) c.1925C= (p.Pro642=) c.1895C= (p.Pro632=) | |
5 | g.141573889G>T | CA361519655 | DIAPH1 | c.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 |
5 | g.141573890G>A | CA128437185 | DIAPH1 | c.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 |
5 | g.141573890G>C | CA361519669 | DIAPH1 | c.1960C>G (p.Pro654Ala) c.1828C>G (p.Pro610Ala) c.1933C>G (p.Pro645Ala) c.1924C>G (p.Pro642Ala) c.1894C>G (p.Pro632Ala) | |
5 | g.141573890G= | CA1587247831 | DIAPH1 | c.1960C= (p.Pro654=) c.1828C= (p.Pro610=) c.1933C= (p.Pro645=) c.1924C= (p.Pro642=) c.1894C= (p.Pro632=) | |
5 | g.141573890G>T | CA361519673 | DIAPH1 | c.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 |
5 | g.141573891T>A | CA447088361 | DIAPH1 | c.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 |
5 | g.141573891T>C | CA447088364 | DIAPH1 | c.1959A>G (p.Pro653=) c.1827A>G (p.Pro609=) c.1932A>G (p.Pro644=) c.1923A>G (p.Pro641=) c.1893A>G (p.Pro631=) | |
5 | g.141573891T>G | CA447088366 | DIAPH1 | c.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 |
5 | g.141573891T= | CA1587247834 | DIAPH1 | c.1959A= (p.Pro653=) c.1827A= (p.Pro609=) c.1932A= (p.Pro644=) c.1923A= (p.Pro641=) c.1893A= (p.Pro631=) | |
5 | g.141573892G>A | CA361519677 | DIAPH1 | c.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 |
5 | g.141573892G>C | CA361519692 | DIAPH1 | c.1958C>G (p.Pro653Arg) c.1826C>G (p.Pro609Arg) c.1931C>G (p.Pro644Arg) c.1922C>G (p.Pro641Arg) c.1892C>G (p.Pro631Arg) | |
5 | g.141573892G= | CA1587247838 | DIAPH1 | c.1958C= (p.Pro653=) c.1826C= (p.Pro609=) c.1931C= (p.Pro644=) c.1922C= (p.Pro641=) c.1892C= (p.Pro631=) | |
5 | g.141573892G>T | CA361519695 | DIAPH1 | c.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 |
5 | g.141573897_141573995del | CA2675691757 | DIAPH1 | c.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 |
5 | g.141573893G>A | CA361519698 | DIAPH1 | c.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 |
5 | g.141573893G>C | CA361519701 | DIAPH1 | c.1957C>G (p.Pro653Ala) c.1825C>G (p.Pro609Ala) c.1930C>G (p.Pro644Ala) c.1921C>G (p.Pro641Ala) c.1891C>G (p.Pro631Ala) | |
5 | g.141573893G>T | CA361519704 | DIAPH1 | c.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 |
5 | g.141573894A>C | CA447088371 | DIAPH1 | c.1956T>G (p.Pro652=) c.1824T>G (p.Pro608=) c.1929T>G (p.Pro643=) c.1920T>G (p.Pro640=) c.1890T>G (p.Pro630=) | |
5 | g.141573894A>G | CA447088369 | DIAPH1 | c.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 |
5 | g.141573894A>T | CA447088370 | DIAPH1 | c.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 |
5 | g.141573895G>A | CA361519722 | DIAPH1 | c.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 |
5 | g.141573895G>C | CA361519727 | DIAPH1 | c.1955C>G (p.Pro652Arg) c.1823C>G (p.Pro608Arg) c.1928C>G (p.Pro643Arg) c.1919C>G (p.Pro640Arg) c.1889C>G (p.Pro630Arg) | |
5 | g.141573895G= | CA1587247842 | DIAPH1 | c.1955C= (p.Pro652=) c.1823C= (p.Pro608=) c.1928C= (p.Pro643=) c.1919C= (p.Pro640=) c.1889C= (p.Pro630=) | |
5 | g.141573895G>T | CA361519738 | DIAPH1 | c.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 |
5 | g.141573896G>A | CA361519750 | DIAPH1 | c.1954C>T (p.Pro652Ser) c.1822C>T (p.Pro608Ser) c.1927C>T (p.Pro643Ser) c.1918C>T (p.Pro640Ser) c.1888C>T (p.Pro630Ser) | |
5 | g.141573896G>C | CA361519746 | DIAPH1 | c.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 |
5 | g.141573896G>T | CA361519743 | DIAPH1 | c.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 |
5 | g.141573897G>A | CA447088375 | DIAPH1 | c.1953C>T (p.Ile651=) c.1821C>T (p.Ile607=) c.1926C>T (p.Ile642=) c.1917C>T (p.Ile639=) c.1887C>T (p.Ile629=) | |
5 | g.141573897G>C | CA361519752 | DIAPH1 | c.1953C>G (p.Ile651Met) c.1821C>G (p.Ile607Met) c.1926C>G (p.Ile642Met) c.1917C>G (p.Ile639Met) c.1887C>G (p.Ile629Met) | |
5 | g.141573897G>T | CA447088376 | DIAPH1 | c.1953C>A (p.Ile651=) c.1821C>A (p.Ile607=) c.1926C>A (p.Ile642=) c.1917C>A (p.Ile639=) c.1887C>A (p.Ile629=) | |
5 | g.141573900_141573935del | CA2675691758 | DIAPH1 | c.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 |
5 | g.141573898A>C | CA361519755 | DIAPH1 | c.1952T>G (p.Ile651Ser) c.1820T>G (p.Ile607Ser) c.1925T>G (p.Ile642Ser) c.1916T>G (p.Ile639Ser) c.1886T>G (p.Ile629Ser) | |
5 | g.141573898A>G | CA361519756 | DIAPH1 | c.1952T>C (p.Ile651Thr) c.1820T>C (p.Ile607Thr) c.1925T>C (p.Ile642Thr) c.1916T>C (p.Ile639Thr) c.1886T>C (p.Ile629Thr) | |
5 | g.141573898A>T | CA361519757 | DIAPH1 | c.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 |
5 | g.141573899T>A | CA361519760 | DIAPH1 | c.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 |
5 | g.141573899T>C | CA361519765 | DIAPH1 | c.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 |
5 | g.141573899T>G | CA361519769 | DIAPH1 | c.1951A>C (p.Ile651Leu) c.1819A>C (p.Ile607Leu) c.1924A>C (p.Ile642Leu) c.1915A>C (p.Ile639Leu) c.1885A>C (p.Ile629Leu) | |
5 | g.141573900G>A | CA447088377 | DIAPH1 | c.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 |
5 | g.141573900G>C | CA447088378 | DIAPH1 | c.1950C>G (p.Thr650=) c.1818C>G (p.Thr606=) c.1923C>G (p.Thr641=) c.1914C>G (p.Thr638=) c.1884C>G (p.Thr628=) | |
5 | g.141573900G= | CA1587247849 | DIAPH1 | c.1950C= (p.Thr650=) c.1818C= (p.Thr606=) c.1923C= (p.Thr641=) c.1914C= (p.Thr638=) c.1884C= (p.Thr628=) | |
5 | g.141573900G>T | CA447088379 | DIAPH1 | c.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 |
5 | g.141573901G>A | CA361519777 | DIAPH1 | c.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 |
5 | g.141573901G>C | CA361519780 | DIAPH1 | c.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 |
5 | g.141573901G>T | CA361519786 | DIAPH1 | c.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 |
5 | g.141573902del | CA2675691759 | DIAPH1 | c.1948del (p.Thr650ProfsTer?) c.1816del (p.Thr606ProfsTer?) c.1921del (p.Thr641ProfsTer?) c.1912del (p.Thr638ProfsTer?) c.1882del (p.Thr628ProfsTer?) | gnomAD v4 |
5 | g.141573902T>A | CA361519792 | DIAPH1 | c.1948A>T (p.Thr650Ser) c.1816A>T (p.Thr606Ser) c.1921A>T (p.Thr641Ser) c.1912A>T (p.Thr638Ser) c.1882A>T (p.Thr628Ser) | |
5 | g.141573902T>C | CA361519805 | DIAPH1 | c.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 |
5 | g.141573902T>G | CA361519809 | DIAPH1 | c.1948A>C (p.Thr650Pro) c.1816A>C (p.Thr606Pro) c.1921A>C (p.Thr641Pro) c.1912A>C (p.Thr638Pro) c.1882A>C (p.Thr628Pro) | |
5 | g.141573902T= | CA1587247854 | DIAPH1 | c.1948A= (p.Thr650=) c.1816A= (p.Thr606=) c.1921A= (p.Thr641=) c.1912A= (p.Thr638=) c.1882A= (p.Thr628=) | |
5 | g.141573903A>C | CA447088385 | DIAPH1 | c.1947T>G (p.Ala649=) c.1815T>G (p.Ala605=) c.1920T>G (p.Ala640=) c.1911T>G (p.Ala637=) c.1881T>G (p.Ala627=) | |
5 | g.141573903A>G | CA447088386 | DIAPH1 | c.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 |
5 | g.141573903A>T | CA447088387 | DIAPH1 | c.1947T>A (p.Ala649=) c.1815T>A (p.Ala605=) c.1920T>A (p.Ala640=) c.1911T>A (p.Ala637=) c.1881T>A (p.Ala627=) | |
5 | g.141573904G>A | CA361519811 | DIAPH1 | c.1946C>T (p.Ala649Val) c.1814C>T (p.Ala605Val) c.1919C>T (p.Ala640Val) c.1910C>T (p.Ala637Val) c.1880C>T (p.Ala627Val) | gnomAD v4 |
5 | g.141573904G>C | CA361519812 | DIAPH1 | c.1946C>G (p.Ala649Gly) c.1814C>G (p.Ala605Gly) c.1919C>G (p.Ala640Gly) c.1910C>G (p.Ala637Gly) c.1880C>G (p.Ala627Gly) | gnomAD v4 |
5 | g.141573904G>T | CA361519810 | DIAPH1 | c.1946C>A (p.Ala649Asp) c.1814C>A (p.Ala605Asp) c.1919C>A (p.Ala640Asp) c.1910C>A (p.Ala637Asp) c.1880C>A (p.Ala627Asp) | gnomAD v4 |