Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.141573874_141573982delinsTCAGGCAAAGGAGGGGGTGGAGGGATGGTAGCATCCCCAGACAAAGGAGGGGGTGGAGAGATAGCAGTACCTCCAGGTAAAGAAGGGGGTGAGGAGATGCAAACACCCCCA1587247773DIAPH1c.1868_1976delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly623=)
c.1736_1844delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly579=)
c.1841_1949delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly614=)
c.1832_1940delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly611=)
c.1802_1910delinsGGGGTGTTTGCATCTCCTCACCCCCTTCTTTACCTGGAGGTACTGCTATCTCTCCACCCCCTCCTTTGTCTGGGGATGCTACCATCCCTCCACCCCCTCCTTTGCCTGA (p.Gly601=)
5g.141573888_141573995delCA1082278862DIAPH1c.1868_1975del (p.Gly623_Pro658del)
c.1736_1843del (p.Gly579_Pro614del)
c.1841_1948del (p.Gly614_Pro649del)
c.1832_1939del (p.Gly611_Pro646del)
c.1802_1909del (p.Gly601_Pro636del)
 dbSNP gnomAD v3 gnomAD v4
5g.141573896_141573931delCA1082278866DIAPH1c.1936_1971del (p.Ser646_Leu657del)
c.1804_1839del (p.Ser602_Leu613del)
c.1909_1944del (p.Ser637_Leu648del)
c.1900_1935del (p.Ser634_Leu645del)
c.1870_1905del (p.Ser624_Leu635del)
 ClinVar gnomAD v3 gnomAD v4
5g.141573897_141573995delCA2675691757DIAPH1c.1860_1958del (p.Leu621_Pro653del)
c.1728_1826del (p.Leu577_Pro609del)
c.1833_1931del (p.Leu612_Pro644del)
c.1824_1922del (p.Leu609_Pro641del)
c.1794_1892del (p.Leu599_Pro631del)
 gnomAD v4
5g.141573900_141573935delCA2675691758DIAPH1c.1918_1953del (p.Ser640_Ile651del)
c.1786_1821del (p.Ser596_Ile607del)
c.1891_1926del (p.Ser631_Ile642del)
c.1882_1917del (p.Ser628_Ile639del)
c.1852_1887del (p.Ser618_Ile629del)
 gnomAD v4
5g.141573904G>ACA361519811DIAPH1c.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
5g.141573904G>CCA361519812DIAPH1c.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
5g.141573904G>TCA361519810DIAPH1c.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
5g.141573905C>ACA361519818DIAPH1c.1945G>T (p.Ala649Ser)
c.1813G>T (p.Ala605Ser)
c.1918G>T (p.Ala640Ser)
c.1909G>T (p.Ala637Ser)
c.1879G>T (p.Ala627Ser)
 gnomAD v4
5g.141573905C>GCA361519831DIAPH1c.1945G>C (p.Ala649Pro)
c.1813G>C (p.Ala605Pro)
c.1918G>C (p.Ala640Pro)
c.1909G>C (p.Ala637Pro)
c.1879G>C (p.Ala627Pro)
 gnomAD v4
5g.141573905C>TCA361519835DIAPH1c.1945G>A (p.Ala649Thr)
c.1813G>A (p.Ala605Thr)
c.1918G>A (p.Ala640Thr)
c.1909G>A (p.Ala637Thr)
c.1879G>A (p.Ala627Thr)
5g.141573906A>CCA361519839DIAPH1c.1944T>G (p.Asp648Glu)
c.1812T>G (p.Asp604Glu)
c.1917T>G (p.Asp639Glu)
c.1908T>G (p.Asp636Glu)
c.1878T>G (p.Asp626Glu)
5g.141573906A>GCA447088388DIAPH1c.1944T>C (p.Asp648=)
c.1812T>C (p.Asp604=)
c.1917T>C (p.Asp639=)
c.1908T>C (p.Asp636=)
c.1878T>C (p.Asp626=)
 gnomAD v4
5g.141573906A>TCA361519842DIAPH1c.1944T>A (p.Asp648Glu)
c.1812T>A (p.Asp604Glu)
c.1917T>A (p.Asp639Glu)
c.1908T>A (p.Asp636Glu)
c.1878T>A (p.Asp626Glu)
5g.141573907T>ACA361519856DIAPH1c.1943A>T (p.Asp648Val)
c.1811A>T (p.Asp604Val)
c.1916A>T (p.Asp639Val)
c.1907A>T (p.Asp636Val)
c.1877A>T (p.Asp626Val)
 dbSNP gnomAD v2
5g.141573907T>CCA10620387DIAPH1c.1943A>G (p.Asp648Gly)
c.1811A>G (p.Asp604Gly)
c.1916A>G (p.Asp639Gly)
c.1907A>G (p.Asp636Gly)
c.1877A>G (p.Asp626Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.141573907T>GCA361519845DIAPH1c.1943A>C (p.Asp648Ala)
c.1811A>C (p.Asp604Ala)
c.1916A>C (p.Asp639Ala)
c.1907A>C (p.Asp636Ala)
c.1877A>C (p.Asp626Ala)
5g.141573907T=CA1587247864DIAPH1c.1943A= (p.Asp648=)
c.1811A= (p.Asp604=)
c.1916A= (p.Asp639=)
c.1907A= (p.Asp636=)
c.1877A= (p.Asp626=)
5g.141573908C>ACA361519860DIAPH1c.1942G>T (p.Asp648Tyr)
c.1810G>T (p.Asp604Tyr)
c.1915G>T (p.Asp639Tyr)
c.1906G>T (p.Asp636Tyr)
c.1876G>T (p.Asp626Tyr)
 gnomAD v4
5g.141573908C>GCA361519862DIAPH1c.1942G>C (p.Asp648His)
c.1810G>C (p.Asp604His)
c.1915G>C (p.Asp639His)
c.1906G>C (p.Asp636His)
c.1876G>C (p.Asp626His)
5g.141573908C>TCA361519863DIAPH1c.1942G>A (p.Asp648Asn)
c.1810G>A (p.Asp604Asn)
c.1915G>A (p.Asp639Asn)
c.1906G>A (p.Asp636Asn)
c.1876G>A (p.Asp626Asn)
5g.141573909C>ACA447088392DIAPH1c.1941G>T (p.Gly647=)
c.1809G>T (p.Gly603=)
c.1914G>T (p.Gly638=)
c.1905G>T (p.Gly635=)
c.1875G>T (p.Gly625=)
 gnomAD v4
5g.141573909C>GCA447088394DIAPH1c.1941G>C (p.Gly647=)
c.1809G>C (p.Gly603=)
c.1914G>C (p.Gly638=)
c.1905G>C (p.Gly635=)
c.1875G>C (p.Gly625=)
5g.141573909C>TCA447088395DIAPH1c.1941G>A (p.Gly647=)
c.1809G>A (p.Gly603=)
c.1914G>A (p.Gly638=)
c.1905G>A (p.Gly635=)
c.1875G>A (p.Gly625=)
5g.141573910C>ACA361519865DIAPH1c.1940G>T (p.Gly647Val)
c.1808G>T (p.Gly603Val)
c.1913G>T (p.Gly638Val)
c.1904G>T (p.Gly635Val)
c.1874G>T (p.Gly625Val)
 dbSNP gnomAD v2 gnomAD v4
5g.141573910C=CA1587247867DIAPH1c.1940G= (p.Gly647=)
c.1808G= (p.Gly603=)
c.1913G= (p.Gly638=)
c.1904G= (p.Gly635=)
c.1874G= (p.Gly625=)
5g.141573910C>GCA361519868DIAPH1c.1940G>C (p.Gly647Ala)
c.1808G>C (p.Gly603Ala)
c.1913G>C (p.Gly638Ala)
c.1904G>C (p.Gly635Ala)
c.1874G>C (p.Gly625Ala)
5g.141573910C>TCA361519870DIAPH1c.1940G>A (p.Gly647Glu)
c.1808G>A (p.Gly603Glu)
c.1913G>A (p.Gly638Glu)
c.1904G>A (p.Gly635Glu)
c.1874G>A (p.Gly625Glu)
5g.141573910_141573914delinsCCAGACA1587247870DIAPH1c.1936_1940delinsTCTGG (p.Ser646=)
c.1804_1808delinsTCTGG (p.Ser602=)
c.1909_1913delinsTCTGG (p.Ser637=)
c.1900_1904delinsTCTGG (p.Ser634=)
c.1870_1874delinsTCTGG (p.Ser624=)
5g.141573911C>ACA361519888DIAPH1c.1939G>T (p.Gly647Trp)
c.1807G>T (p.Gly603Trp)
c.1912G>T (p.Gly638Trp)
c.1903G>T (p.Gly635Trp)
c.1873G>T (p.Gly625Trp)
 gnomAD v4
5g.141573911C>GCA361519875DIAPH1c.1939G>C (p.Gly647Arg)
c.1807G>C (p.Gly603Arg)
c.1912G>C (p.Gly638Arg)
c.1903G>C (p.Gly635Arg)
c.1873G>C (p.Gly625Arg)
5g.141573911C>TCA361519884DIAPH1c.1939G>A (p.Gly647Arg)
c.1807G>A (p.Gly603Arg)
c.1912G>A (p.Gly638Arg)
c.1903G>A (p.Gly635Arg)
c.1873G>A (p.Gly625Arg)
5g.141573913_141573916delCA1587247879DIAPH1c.1936_1939del (p.Ser646GlyfsTer?)
c.1804_1807del (p.Ser602GlyfsTer?)
c.1909_1912del (p.Ser637GlyfsTer?)
c.1900_1903del (p.Ser634GlyfsTer?)
c.1870_1873del (p.Ser624GlyfsTer?)
 dbSNP
5g.141573912A>CCA447088399DIAPH1c.1938T>G (p.Ser646=)
c.1806T>G (p.Ser602=)
c.1911T>G (p.Ser637=)
c.1902T>G (p.Ser634=)
c.1872T>G (p.Ser624=)
5g.141573912A>GCA447088400DIAPH1c.1938T>C (p.Ser646=)
c.1806T>C (p.Ser602=)
c.1911T>C (p.Ser637=)
c.1902T>C (p.Ser634=)
c.1872T>C (p.Ser624=)
5g.141573912A>TCA447088402DIAPH1c.1938T>A (p.Ser646=)
c.1806T>A (p.Ser602=)
c.1911T>A (p.Ser637=)
c.1902T>A (p.Ser634=)
c.1872T>A (p.Ser624=)
 gnomAD v4
5g.141573913G>ACA361519894DIAPH1c.1937C>T (p.Ser646Phe)
c.1805C>T (p.Ser602Phe)
c.1910C>T (p.Ser637Phe)
c.1901C>T (p.Ser634Phe)
c.1871C>T (p.Ser624Phe)
5g.141573913G>CCA361519897DIAPH1c.1937C>G (p.Ser646Cys)
c.1805C>G (p.Ser602Cys)
c.1910C>G (p.Ser637Cys)
c.1901C>G (p.Ser634Cys)
c.1871C>G (p.Ser624Cys)
5g.141573913G>TCA361519899DIAPH1c.1937C>A (p.Ser646Tyr)
c.1805C>A (p.Ser602Tyr)
c.1910C>A (p.Ser637Tyr)
c.1901C>A (p.Ser634Tyr)
c.1871C>A (p.Ser624Tyr)
5g.141573914A>CCA361519907DIAPH1c.1936T>G (p.Ser646Ala)
c.1804T>G (p.Ser602Ala)
c.1909T>G (p.Ser637Ala)
c.1900T>G (p.Ser634Ala)
c.1870T>G (p.Ser624Ala)
5g.141573914A>GCA361519912DIAPH1c.1936T>C (p.Ser646Pro)
c.1804T>C (p.Ser602Pro)
c.1909T>C (p.Ser637Pro)
c.1900T>C (p.Ser634Pro)
c.1870T>C (p.Ser624Pro)
 gnomAD v4
5g.141573914A>TCA361519917DIAPH1c.1936T>A (p.Ser646Thr)
c.1804T>A (p.Ser602Thr)
c.1909T>A (p.Ser637Thr)
c.1900T>A (p.Ser634Thr)
c.1870T>A (p.Ser624Thr)
5g.141573915C>ACA361519923DIAPH1c.1935G>T (p.Leu645Phe)
c.1803G>T (p.Leu601Phe)
c.1908G>T (p.Leu636Phe)
c.1899G>T (p.Leu633Phe)
c.1869G>T (p.Leu623Phe)
 gnomAD v4
5g.141573915C=CA1587247881DIAPH1c.1935G= (p.Leu645=)
c.1803G= (p.Leu601=)
c.1908G= (p.Leu636=)
c.1899G= (p.Leu633=)
c.1869G= (p.Leu623=)
5g.141573915C>GCA361519920DIAPH1c.1935G>C (p.Leu645Phe)
c.1803G>C (p.Leu601Phe)
c.1908G>C (p.Leu636Phe)
c.1899G>C (p.Leu633Phe)
c.1869G>C (p.Leu623Phe)
5g.141573915C>TCA447088408DIAPH1c.1935G>A (p.Leu645=)
c.1803G>A (p.Leu601=)
c.1908G>A (p.Leu636=)
c.1899G>A (p.Leu633=)
c.1869G>A (p.Leu623=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
5g.141573916A>CCA361519927DIAPH1c.1934T>G (p.Leu645Trp)
c.1802T>G (p.Leu601Trp)
c.1907T>G (p.Leu636Trp)
c.1898T>G (p.Leu633Trp)
c.1868T>G (p.Leu623Trp)
5g.141573916A>GCA361519929DIAPH1c.1934T>C (p.Leu645Ser)
c.1802T>C (p.Leu601Ser)
c.1907T>C (p.Leu636Ser)
c.1898T>C (p.Leu633Ser)
c.1868T>C (p.Leu623Ser)
5g.141573916A>TCA361519942DIAPH1c.1934T>A (p.Leu645Ter)
c.1802T>A (p.Leu601Ter)
c.1907T>A (p.Leu636Ter)
c.1898T>A (p.Leu633Ter)
c.1868T>A (p.Leu623Ter)
5g.141573917A>CCA361519946DIAPH1c.1933T>G (p.Leu645Val)
c.1801T>G (p.Leu601Val)
c.1906T>G (p.Leu636Val)
c.1897T>G (p.Leu633Val)
c.1867T>G (p.Leu623Val)
5g.141573917A>GCA447088409DIAPH1c.1933T>C (p.Leu645=)
c.1801T>C (p.Leu601=)
c.1906T>C (p.Leu636=)
c.1897T>C (p.Leu633=)
c.1867T>C (p.Leu623=)
5g.141573917A>TCA361519947DIAPH1c.1933T>A (p.Leu645Met)
c.1801T>A (p.Leu601Met)
c.1906T>A (p.Leu636Met)
c.1897T>A (p.Leu633Met)
c.1867T>A (p.Leu623Met)
5g.141573918A=CA1587247887DIAPH1c.1932T= (p.Pro644=)
c.1800T= (p.Pro600=)
c.1905T= (p.Pro635=)
c.1896T= (p.Pro632=)
c.1866T= (p.Pro622=)
5g.141573918A>CCA447088411DIAPH1c.1932T>G (p.Pro644=)
c.1800T>G (p.Pro600=)
c.1905T>G (p.Pro635=)
c.1896T>G (p.Pro632=)
c.1866T>G (p.Pro622=)
5g.141573918A>GCA447088412DIAPH1c.1932T>C (p.Pro644=)
c.1800T>C (p.Pro600=)
c.1905T>C (p.Pro635=)
c.1896T>C (p.Pro632=)
c.1866T>C (p.Pro622=)
 dbSNP gnomAD v2
5g.141573918A>TCA3479187DIAPH1c.1932T>A (p.Pro644=)
c.1800T>A (p.Pro600=)
c.1905T>A (p.Pro635=)
c.1896T>A (p.Pro632=)
c.1866T>A (p.Pro622=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.141573919G>ACA361519954DIAPH1c.1931C>T (p.Pro644Leu)
c.1799C>T (p.Pro600Leu)
c.1904C>T (p.Pro635Leu)
c.1895C>T (p.Pro632Leu)
c.1865C>T (p.Pro622Leu)
5g.141573919G>CCA361519967DIAPH1c.1931C>G (p.Pro644Arg)
c.1799C>G (p.Pro600Arg)
c.1904C>G (p.Pro635Arg)
c.1895C>G (p.Pro632Arg)
c.1865C>G (p.Pro622Arg)
5g.141573919G>TCA361519963DIAPH1c.1931C>A (p.Pro644His)
c.1799C>A (p.Pro600His)
c.1904C>A (p.Pro635His)
c.1895C>A (p.Pro632His)
c.1865C>A (p.Pro622His)
5g.141573919_141573920delinsAACA645558435DIAPH1c.1930_1931delinsTT (p.Pro644Phe)
c.1798_1799delinsTT (p.Pro600Phe)
c.1903_1904delinsTT (p.Pro635Phe)
c.1894_1895delinsTT (p.Pro632Phe)
c.1864_1865delinsTT (p.Pro622Phe)
 COSMIC
5g.141573920G>ACA361519971DIAPH1c.1930C>T (p.Pro644Ser)
c.1798C>T (p.Pro600Ser)
c.1903C>T (p.Pro635Ser)
c.1894C>T (p.Pro632Ser)
c.1864C>T (p.Pro622Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.141573920G>CCA361519982DIAPH1c.1930C>G (p.Pro644Ala)
c.1798C>G (p.Pro600Ala)
c.1903C>G (p.Pro635Ala)
c.1894C>G (p.Pro632Ala)
c.1864C>G (p.Pro622Ala)
5g.141573920G=CA1587247892DIAPH1c.1930C= (p.Pro644=)
c.1798C= (p.Pro600=)
c.1903C= (p.Pro635=)
c.1894C= (p.Pro632=)
c.1864C= (p.Pro622=)
5g.141573920G>TCA361519986DIAPH1c.1930C>A (p.Pro644Thr)
c.1798C>A (p.Pro600Thr)
c.1903C>A (p.Pro635Thr)
c.1894C>A (p.Pro632Thr)
c.1864C>A (p.Pro622Thr)
 gnomAD v4
5g.141573921A>CCA447088420DIAPH1c.1929T>G (p.Pro643=)
c.1797T>G (p.Pro599=)
c.1902T>G (p.Pro634=)
c.1893T>G (p.Pro631=)
c.1863T>G (p.Pro621=)
5g.141573921A>GCA447088421DIAPH1c.1929T>C (p.Pro643=)
c.1797T>C (p.Pro599=)
c.1902T>C (p.Pro634=)
c.1893T>C (p.Pro631=)
c.1863T>C (p.Pro621=)
 gnomAD v3 gnomAD v4
5g.141573921A>TCA447088422DIAPH1c.1929T>A (p.Pro643=)
c.1797T>A (p.Pro599=)
c.1902T>A (p.Pro634=)
c.1893T>A (p.Pro631=)
c.1863T>A (p.Pro621=)
5g.141573922G>ACA3479188DIAPH1c.1928C>T (p.Pro643Leu)
c.1796C>T (p.Pro599Leu)
c.1901C>T (p.Pro634Leu)
c.1892C>T (p.Pro631Leu)
c.1862C>T (p.Pro621Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573922G>CCA361519990DIAPH1c.1928C>G (p.Pro643Arg)
c.1796C>G (p.Pro599Arg)
c.1901C>G (p.Pro634Arg)
c.1892C>G (p.Pro631Arg)
c.1862C>G (p.Pro621Arg)
 dbSNP gnomAD v4
5g.141573922G=CA1587247894DIAPH1c.1928C= (p.Pro643=)
c.1796C= (p.Pro599=)
c.1901C= (p.Pro634=)
c.1892C= (p.Pro631=)
c.1862C= (p.Pro621=)
5g.141573922G>TCA361519992DIAPH1c.1928C>A (p.Pro643His)
c.1796C>A (p.Pro599His)
c.1901C>A (p.Pro634His)
c.1892C>A (p.Pro631His)
c.1862C>A (p.Pro621His)
 ClinVar dbSNP gnomAD v4
5g.141573926delCA2675691760DIAPH1c.1928del (p.Pro643LeufsTer?)
c.1796del (p.Pro599LeufsTer?)
c.1901del (p.Pro634LeufsTer?)
c.1892del (p.Pro631LeufsTer?)
c.1862del (p.Pro621LeufsTer?)
 gnomAD v4
5g.141573923G>ACA361519995DIAPH1c.1927C>T (p.Pro643Ser)
c.1795C>T (p.Pro599Ser)
c.1900C>T (p.Pro634Ser)
c.1891C>T (p.Pro631Ser)
c.1861C>T (p.Pro621Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.141573923G>CCA3479189DIAPH1c.1927C>G (p.Pro643Ala)
c.1795C>G (p.Pro599Ala)
c.1900C>G (p.Pro634Ala)
c.1891C>G (p.Pro631Ala)
c.1861C>G (p.Pro621Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.141573923G=CA1587247898DIAPH1c.1927C= (p.Pro643=)
c.1795C= (p.Pro599=)
c.1900C= (p.Pro634=)
c.1891C= (p.Pro631=)
c.1861C= (p.Pro621=)
5g.141573923G>TCA361519996DIAPH1c.1927C>A (p.Pro643Thr)
c.1795C>A (p.Pro599Thr)
c.1900C>A (p.Pro634Thr)
c.1891C>A (p.Pro631Thr)
c.1861C>A (p.Pro621Thr)
 ClinVar dbSNP gnomAD v4
5g.141573924G>ACA447088428DIAPH1c.1926C>T (p.Pro642=)
c.1794C>T (p.Pro598=)
c.1899C>T (p.Pro633=)
c.1890C>T (p.Pro630=)
c.1860C>T (p.Pro620=)
 ClinVar dbSNP gnomAD v4
5g.141573924G>CCA128437226DIAPH1c.1926C>G (p.Pro642=)
c.1794C>G (p.Pro598=)
c.1899C>G (p.Pro633=)
c.1890C>G (p.Pro630=)
c.1860C>G (p.Pro620=)
 dbSNP
5g.141573924G=CA1587247903DIAPH1c.1926C= (p.Pro642=)
c.1794C= (p.Pro598=)
c.1899C= (p.Pro633=)
c.1890C= (p.Pro630=)
c.1860C= (p.Pro620=)
5g.141573924G>TCA447088430DIAPH1c.1926C>A (p.Pro642=)
c.1794C>A (p.Pro598=)
c.1899C>A (p.Pro633=)
c.1890C>A (p.Pro630=)
c.1860C>A (p.Pro620=)
 gnomAD v4
5g.141573925G>ACA361519997DIAPH1c.1925C>T (p.Pro642Leu)
c.1793C>T (p.Pro598Leu)
c.1898C>T (p.Pro633Leu)
c.1889C>T (p.Pro630Leu)
c.1859C>T (p.Pro620Leu)
 ClinVar dbSNP gnomAD v4
5g.141573925G>CCA361520000DIAPH1c.1925C>G (p.Pro642Arg)
c.1793C>G (p.Pro598Arg)
c.1898C>G (p.Pro633Arg)
c.1889C>G (p.Pro630Arg)
c.1859C>G (p.Pro620Arg)
5g.141573925G=CA1587247912DIAPH1c.1925C= (p.Pro642=)
c.1793C= (p.Pro598=)
c.1898C= (p.Pro633=)
c.1889C= (p.Pro630=)
c.1859C= (p.Pro620=)
5g.141573925G>TCA361520002DIAPH1c.1925C>A (p.Pro642His)
c.1793C>A (p.Pro598His)
c.1898C>A (p.Pro633His)
c.1889C>A (p.Pro630His)
c.1859C>A (p.Pro620His)
 gnomAD v4
5g.141573926G>ACA361520007DIAPH1c.1924C>T (p.Pro642Ser)
c.1792C>T (p.Pro598Ser)
c.1897C>T (p.Pro633Ser)
c.1888C>T (p.Pro630Ser)
c.1858C>T (p.Pro620Ser)
 dbSNP
5g.141573926G>CCA361520008DIAPH1c.1924C>G (p.Pro642Ala)
c.1792C>G (p.Pro598Ala)
c.1897C>G (p.Pro633Ala)
c.1888C>G (p.Pro630Ala)
c.1858C>G (p.Pro620Ala)
5g.141573926G=CA1587247915DIAPH1c.1924C= (p.Pro642=)
c.1792C= (p.Pro598=)
c.1897C= (p.Pro633=)
c.1888C= (p.Pro630=)
c.1858C= (p.Pro620=)
5g.141573926G>TCA361520006DIAPH1c.1924C>A (p.Pro642Thr)
c.1792C>A (p.Pro598Thr)
c.1897C>A (p.Pro633Thr)
c.1888C>A (p.Pro630Thr)
c.1858C>A (p.Pro620Thr)
 gnomAD v4
5g.141573927T>ACA447088434DIAPH1c.1923A>T (p.Pro641=)
c.1791A>T (p.Pro597=)
c.1896A>T (p.Pro632=)
c.1887A>T (p.Pro629=)
c.1857A>T (p.Pro619=)
 gnomAD v3 gnomAD v4
5g.141573927T>CCA447088440DIAPH1c.1923A>G (p.Pro641=)
c.1791A>G (p.Pro597=)
c.1896A>G (p.Pro632=)
c.1887A>G (p.Pro629=)
c.1857A>G (p.Pro619=)
5g.141573927T>GCA447088436DIAPH1c.1923A>C (p.Pro641=)
c.1791A>C (p.Pro597=)
c.1896A>C (p.Pro632=)
c.1887A>C (p.Pro629=)
c.1857A>C (p.Pro619=)
 dbSNP gnomAD v3 gnomAD v4
5g.141573927T=CA1587247918DIAPH1c.1923A= (p.Pro641=)
c.1791A= (p.Pro597=)
c.1896A= (p.Pro632=)
c.1887A= (p.Pro629=)
c.1857A= (p.Pro619=)
5g.141573928G>ACA361520010DIAPH1c.1922C>T (p.Pro641Leu)
c.1790C>T (p.Pro597Leu)
c.1895C>T (p.Pro632Leu)
c.1886C>T (p.Pro629Leu)
c.1856C>T (p.Pro619Leu)
 gnomAD v4
5g.141573928G>CCA361520011DIAPH1c.1922C>G (p.Pro641Arg)
c.1790C>G (p.Pro597Arg)
c.1895C>G (p.Pro632Arg)
c.1886C>G (p.Pro629Arg)
c.1856C>G (p.Pro619Arg)
5g.141573928G>TCA361520015DIAPH1c.1922C>A (p.Pro641Gln)
c.1790C>A (p.Pro597Gln)
c.1895C>A (p.Pro632Gln)
c.1886C>A (p.Pro629Gln)
c.1856C>A (p.Pro619Gln)
 gnomAD v4
5g.141573929G>ACA361520019DIAPH1c.1921C>T (p.Pro641Ser)
c.1789C>T (p.Pro597Ser)
c.1894C>T (p.Pro632Ser)
c.1885C>T (p.Pro629Ser)
c.1855C>T (p.Pro619Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.141573929G>CCA361520021DIAPH1c.1921C>G (p.Pro641Ala)
c.1789C>G (p.Pro597Ala)
c.1894C>G (p.Pro632Ala)
c.1885C>G (p.Pro629Ala)
c.1855C>G (p.Pro619Ala)
5g.141573929G=CA1587247922DIAPH1c.1921C= (p.Pro641=)
c.1789C= (p.Pro597=)
c.1894C= (p.Pro632=)
c.1885C= (p.Pro629=)
c.1855C= (p.Pro619=)
5g.141573929G>TCA361520026DIAPH1c.1921C>A (p.Pro641Thr)
c.1789C>A (p.Pro597Thr)
c.1894C>A (p.Pro632Thr)
c.1885C>A (p.Pro629Thr)
c.1855C>A (p.Pro619Thr)
 gnomAD v4
5g.141573930A>CCA447088441DIAPH1c.1920T>G (p.Ser640=)
c.1788T>G (p.Ser596=)
c.1893T>G (p.Ser631=)
c.1884T>G (p.Ser628=)
c.1854T>G (p.Ser618=)
5g.141573930A>GCA447088442DIAPH1c.1920T>C (p.Ser640=)
c.1788T>C (p.Ser596=)
c.1893T>C (p.Ser631=)
c.1884T>C (p.Ser628=)
c.1854T>C (p.Ser618=)
5g.141573930A>TCA447088444DIAPH1c.1920T>A (p.Ser640=)
c.1788T>A (p.Ser596=)
c.1893T>A (p.Ser631=)
c.1884T>A (p.Ser628=)
c.1854T>A (p.Ser618=)
5g.141573931G>ACA361520035DIAPH1c.1919C>T (p.Ser640Phe)
c.1787C>T (p.Ser596Phe)
c.1892C>T (p.Ser631Phe)
c.1883C>T (p.Ser628Phe)
c.1853C>T (p.Ser618Phe)
 gnomAD v4
5g.141573931G>CCA361520042DIAPH1c.1919C>G (p.Ser640Cys)
c.1787C>G (p.Ser596Cys)
c.1892C>G (p.Ser631Cys)
c.1883C>G (p.Ser628Cys)
c.1853C>G (p.Ser618Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.141573931G=CA1587247926DIAPH1c.1919C= (p.Ser640=)
c.1787C= (p.Ser596=)
c.1892C= (p.Ser631=)
c.1883C= (p.Ser628=)
c.1853C= (p.Ser618=)
5g.141573931G>TCA361520039DIAPH1c.1919C>A (p.Ser640Tyr)
c.1787C>A (p.Ser596Tyr)
c.1892C>A (p.Ser631Tyr)
c.1883C>A (p.Ser628Tyr)
c.1853C>A (p.Ser618Tyr)
 gnomAD v4
5g.141573932A>CCA361520048DIAPH1c.1918T>G (p.Ser640Ala)
c.1786T>G (p.Ser596Ala)
c.1891T>G (p.Ser631Ala)
c.1882T>G (p.Ser628Ala)
c.1852T>G (p.Ser618Ala)
5g.141573932A>GCA361520050DIAPH1c.1918T>C (p.Ser640Pro)
c.1786T>C (p.Ser596Pro)
c.1891T>C (p.Ser631Pro)
c.1882T>C (p.Ser628Pro)
c.1852T>C (p.Ser618Pro)
5g.141573932A>TCA361520053DIAPH1c.1918T>A (p.Ser640Thr)
c.1786T>A (p.Ser596Thr)
c.1891T>A (p.Ser631Thr)
c.1882T>A (p.Ser628Thr)
c.1852T>A (p.Ser618Thr)
5g.141573933G>ACA447088449DIAPH1c.1917C>T (p.Ile639=)
c.1785C>T (p.Ile595=)
c.1890C>T (p.Ile630=)
c.1881C>T (p.Ile627=)
c.1851C>T (p.Ile617=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.141573933G>CCA361520057DIAPH1c.1917C>G (p.Ile639Met)
c.1785C>G (p.Ile595Met)
c.1890C>G (p.Ile630Met)
c.1881C>G (p.Ile627Met)
c.1851C>G (p.Ile617Met)
5g.141573933G=CA1587247932DIAPH1c.1917C= (p.Ile639=)
c.1785C= (p.Ile595=)
c.1890C= (p.Ile630=)
c.1881C= (p.Ile627=)
c.1851C= (p.Ile617=)
5g.141573933G>TCA447088450DIAPH1c.1917C>A (p.Ile639=)
c.1785C>A (p.Ile595=)
c.1890C>A (p.Ile630=)
c.1881C>A (p.Ile627=)
c.1851C>A (p.Ile617=)
 gnomAD v4
5g.141573934delCA2675691761DIAPH1c.1916del (p.Ile639ThrfsTer?)
c.1784del (p.Ile595ThrfsTer?)
c.1889del (p.Ile630ThrfsTer?)
c.1880del (p.Ile627ThrfsTer?)
c.1850del (p.Ile617ThrfsTer?)
 gnomAD v4
5g.141573934A>CCA361520060DIAPH1c.1916T>G (p.Ile639Ser)
c.1784T>G (p.Ile595Ser)
c.1889T>G (p.Ile630Ser)
c.1880T>G (p.Ile627Ser)
c.1850T>G (p.Ile617Ser)
5g.141573934A>GCA361520066DIAPH1c.1916T>C (p.Ile639Thr)
c.1784T>C (p.Ile595Thr)
c.1889T>C (p.Ile630Thr)
c.1880T>C (p.Ile627Thr)
c.1850T>C (p.Ile617Thr)
 gnomAD v4
5g.141573934A>TCA361520063DIAPH1c.1916T>A (p.Ile639Asn)
c.1784T>A (p.Ile595Asn)
c.1889T>A (p.Ile630Asn)
c.1880T>A (p.Ile627Asn)
c.1850T>A (p.Ile617Asn)
5g.141573935T>ACA3479190DIAPH1c.1915A>T (p.Ile639Phe)
c.1783A>T (p.Ile595Phe)
c.1888A>T (p.Ile630Phe)
c.1879A>T (p.Ile627Phe)
c.1849A>T (p.Ile617Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.141573935T>CCA361520075DIAPH1c.1915A>G (p.Ile639Val)
c.1783A>G (p.Ile595Val)
c.1888A>G (p.Ile630Val)
c.1879A>G (p.Ile627Val)
c.1849A>G (p.Ile617Val)
 ClinVar dbSNP gnomAD v4
5g.141573935T>GCA361520080DIAPH1c.1915A>C (p.Ile639Leu)
c.1783A>C (p.Ile595Leu)
c.1888A>C (p.Ile630Leu)
c.1879A>C (p.Ile627Leu)
c.1849A>C (p.Ile617Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573935T=CA1587247934DIAPH1c.1915A= (p.Ile639=)
c.1783A= (p.Ile595=)
c.1888A= (p.Ile630=)
c.1879A= (p.Ile627=)
c.1849A= (p.Ile617=)
5g.141573936A>CCA447088459DIAPH1c.1914T>G (p.Ala638=)
c.1782T>G (p.Ala594=)
c.1887T>G (p.Ala629=)
c.1878T>G (p.Ala626=)
c.1848T>G (p.Ala616=)
5g.141573936A>GCA447088458DIAPH1c.1914T>C (p.Ala638=)
c.1782T>C (p.Ala594=)
c.1887T>C (p.Ala629=)
c.1878T>C (p.Ala626=)
c.1848T>C (p.Ala616=)
 gnomAD v4
5g.141573936A>TCA447088456DIAPH1c.1914T>A (p.Ala638=)
c.1782T>A (p.Ala594=)
c.1887T>A (p.Ala629=)
c.1878T>A (p.Ala626=)
c.1848T>A (p.Ala616=)
5g.141573937G>ACA361520085DIAPH1c.1913C>T (p.Ala638Val)
c.1781C>T (p.Ala594Val)
c.1886C>T (p.Ala629Val)
c.1877C>T (p.Ala626Val)
c.1847C>T (p.Ala616Val)
5g.141573937G>CCA361520095DIAPH1c.1913C>G (p.Ala638Gly)
c.1781C>G (p.Ala594Gly)
c.1886C>G (p.Ala629Gly)
c.1877C>G (p.Ala626Gly)
c.1847C>G (p.Ala616Gly)
 dbSNP gnomAD v2
5g.141573937G=CA1587247941DIAPH1c.1913C= (p.Ala638=)
c.1781C= (p.Ala594=)
c.1886C= (p.Ala629=)
c.1877C= (p.Ala626=)
c.1847C= (p.Ala616=)
5g.141573937G>TCA361520099DIAPH1c.1913C>A (p.Ala638Asp)
c.1781C>A (p.Ala594Asp)
c.1886C>A (p.Ala629Asp)
c.1877C>A (p.Ala626Asp)
c.1847C>A (p.Ala616Asp)
5g.141573938C>ACA361520104DIAPH1c.1912G>T (p.Ala638Ser)
c.1780G>T (p.Ala594Ser)
c.1885G>T (p.Ala629Ser)
c.1876G>T (p.Ala626Ser)
c.1846G>T (p.Ala616Ser)
 gnomAD v4
5g.141573938C=CA1587247945DIAPH1c.1912G= (p.Ala638=)
c.1780G= (p.Ala594=)
c.1885G= (p.Ala629=)
c.1876G= (p.Ala626=)
c.1846G= (p.Ala616=)
5g.141573938C>GCA361520101DIAPH1c.1912G>C (p.Ala638Pro)
c.1780G>C (p.Ala594Pro)
c.1885G>C (p.Ala629Pro)
c.1876G>C (p.Ala626Pro)
c.1846G>C (p.Ala616Pro)
5g.141573938C>TCA361520100DIAPH1c.1912G>A (p.Ala638Thr)
c.1780G>A (p.Ala594Thr)
c.1885G>A (p.Ala629Thr)
c.1876G>A (p.Ala626Thr)
c.1846G>A (p.Ala616Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573939A>CCA447088461DIAPH1c.1911T>G (p.Thr637=)
c.1779T>G (p.Thr593=)
c.1884T>G (p.Thr628=)
c.1875T>G (p.Thr625=)
c.1845T>G (p.Thr615=)
5g.141573939A>GCA447088462DIAPH1c.1911T>C (p.Thr637=)
c.1779T>C (p.Thr593=)
c.1884T>C (p.Thr628=)
c.1875T>C (p.Thr625=)
c.1845T>C (p.Thr615=)
 gnomAD v4
5g.141573939A>TCA447088463DIAPH1c.1911T>A (p.Thr637=)
c.1779T>A (p.Thr593=)
c.1884T>A (p.Thr628=)
c.1875T>A (p.Thr625=)
c.1845T>A (p.Thr615=)
5g.141573940G>ACA361520107DIAPH1c.1910C>T (p.Thr637Ile)
c.1778C>T (p.Thr593Ile)
c.1883C>T (p.Thr628Ile)
c.1874C>T (p.Thr625Ile)
c.1844C>T (p.Thr615Ile)
5g.141573940G>CCA361520110DIAPH1c.1910C>G (p.Thr637Ser)
c.1778C>G (p.Thr593Ser)
c.1883C>G (p.Thr628Ser)
c.1874C>G (p.Thr625Ser)
c.1844C>G (p.Thr615Ser)
5g.141573940G>TCA361520114DIAPH1c.1910C>A (p.Thr637Asn)
c.1778C>A (p.Thr593Asn)
c.1883C>A (p.Thr628Asn)
c.1874C>A (p.Thr625Asn)
c.1844C>A (p.Thr615Asn)
 ClinVar
5g.141573941T>ACA361520116DIAPH1c.1909A>T (p.Thr637Ser)
c.1777A>T (p.Thr593Ser)
c.1882A>T (p.Thr628Ser)
c.1873A>T (p.Thr625Ser)
c.1843A>T (p.Thr615Ser)
5g.141573941T>CCA361520117DIAPH1c.1909A>G (p.Thr637Ala)
c.1777A>G (p.Thr593Ala)
c.1882A>G (p.Thr628Ala)
c.1873A>G (p.Thr625Ala)
c.1843A>G (p.Thr615Ala)
 gnomAD v4
5g.141573941T>GCA361520118DIAPH1c.1909A>C (p.Thr637Pro)
c.1777A>C (p.Thr593Pro)
c.1882A>C (p.Thr628Pro)
c.1873A>C (p.Thr625Pro)
c.1843A>C (p.Thr615Pro)
5g.141573942A>CCA447088466DIAPH1c.1908T>G (p.Gly636=)
c.1776T>G (p.Gly592=)
c.1881T>G (p.Gly627=)
c.1872T>G (p.Gly624=)
c.1842T>G (p.Gly614=)
5g.141573942A>GCA447088468DIAPH1c.1908T>C (p.Gly636=)
c.1776T>C (p.Gly592=)
c.1881T>C (p.Gly627=)
c.1872T>C (p.Gly624=)
c.1842T>C (p.Gly614=)
 ClinVar
5g.141573942A>TCA447088469DIAPH1c.1908T>A (p.Gly636=)
c.1776T>A (p.Gly592=)
c.1881T>A (p.Gly627=)
c.1872T>A (p.Gly624=)
c.1842T>A (p.Gly614=)
5g.141573943C>ACA361520119DIAPH1c.1907G>T (p.Gly636Val)
c.1775G>T (p.Gly592Val)
c.1880G>T (p.Gly627Val)
c.1871G>T (p.Gly624Val)
c.1841G>T (p.Gly614Val)
 gnomAD v4
5g.141573943C=CA1587247948DIAPH1c.1907G= (p.Gly636=)
c.1775G= (p.Gly592=)
c.1880G= (p.Gly627=)
c.1871G= (p.Gly624=)
c.1841G= (p.Gly614=)
5g.141573943C>GCA361520124DIAPH1c.1907G>C (p.Gly636Ala)
c.1775G>C (p.Gly592Ala)
c.1880G>C (p.Gly627Ala)
c.1871G>C (p.Gly624Ala)
c.1841G>C (p.Gly614Ala)
5g.141573943C>TCA128437229DIAPH1c.1907G>A (p.Gly636Asp)
c.1775G>A (p.Gly592Asp)
c.1880G>A (p.Gly627Asp)
c.1871G>A (p.Gly624Asp)
c.1841G>A (p.Gly614Asp)
 dbSNP gnomAD v2 gnomAD v4
5g.141573944C>ACA361520130DIAPH1c.1906G>T (p.Gly636Cys)
c.1774G>T (p.Gly592Cys)
c.1879G>T (p.Gly627Cys)
c.1870G>T (p.Gly624Cys)
c.1840G>T (p.Gly614Cys)
 gnomAD v4
5g.141573944C=CA1587247951DIAPH1c.1906G= (p.Gly636=)
c.1774G= (p.Gly592=)
c.1879G= (p.Gly627=)
c.1870G= (p.Gly624=)
c.1840G= (p.Gly614=)
5g.141573944C>GCA361520133DIAPH1c.1906G>C (p.Gly636Arg)
c.1774G>C (p.Gly592Arg)
c.1879G>C (p.Gly627Arg)
c.1870G>C (p.Gly624Arg)
c.1840G>C (p.Gly614Arg)
 gnomAD v4
5g.141573944C>TCA361520137DIAPH1c.1906G>A (p.Gly636Ser)
c.1774G>A (p.Gly592Ser)
c.1879G>A (p.Gly627Ser)
c.1870G>A (p.Gly624Ser)
c.1840G>A (p.Gly614Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.141573945T>ACA447088470DIAPH1c.1905A>T (p.Gly635=)
c.1773A>T (p.Gly591=)
c.1878A>T (p.Gly626=)
c.1869A>T (p.Gly623=)
c.1839A>T (p.Gly613=)
 dbSNP
5g.141573945T>CCA447088471DIAPH1c.1905A>G (p.Gly635=)
c.1773A>G (p.Gly591=)
c.1878A>G (p.Gly626=)
c.1869A>G (p.Gly623=)
c.1839A>G (p.Gly613=)
5g.141573945T>GCA447088472DIAPH1c.1905A>C (p.Gly635=)
c.1773A>C (p.Gly591=)
c.1878A>C (p.Gly626=)
c.1869A>C (p.Gly623=)
c.1839A>C (p.Gly613=)
5g.141573945T=CA1587247953DIAPH1c.1905A= (p.Gly635=)
c.1773A= (p.Gly591=)
c.1878A= (p.Gly626=)
c.1869A= (p.Gly623=)
c.1839A= (p.Gly613=)
5g.141573946C>ACA361520142DIAPH1c.1904G>T (p.Gly635Val)
c.1772G>T (p.Gly591Val)
c.1877G>T (p.Gly626Val)
c.1868G>T (p.Gly623Val)
c.1838G>T (p.Gly613Val)
 gnomAD v4 COSMIC
5g.141573946C>GCA361520143DIAPH1c.1904G>C (p.Gly635Ala)
c.1772G>C (p.Gly591Ala)
c.1877G>C (p.Gly626Ala)
c.1868G>C (p.Gly623Ala)
c.1838G>C (p.Gly613Ala)
5g.141573946C>TCA361520145DIAPH1c.1904G>A (p.Gly635Glu)
c.1772G>A (p.Gly591Glu)
c.1877G>A (p.Gly626Glu)
c.1868G>A (p.Gly623Glu)
c.1838G>A (p.Gly613Glu)
 dbSNP gnomAD v4
5g.141573947C>ACA361520147DIAPH1c.1903G>T (p.Gly635Ter)
c.1771G>T (p.Gly591Ter)
c.1876G>T (p.Gly626Ter)
c.1867G>T (p.Gly623Ter)
c.1837G>T (p.Gly613Ter)
 gnomAD v4
5g.141573947C>GCA361520150DIAPH1c.1903G>C (p.Gly635Arg)
c.1771G>C (p.Gly591Arg)
c.1876G>C (p.Gly626Arg)
c.1867G>C (p.Gly623Arg)
c.1837G>C (p.Gly613Arg)
5g.141573947C>TCA361520153DIAPH1c.1903G>A (p.Gly635Arg)
c.1771G>A (p.Gly591Arg)
c.1876G>A (p.Gly626Arg)
c.1867G>A (p.Gly623Arg)
c.1837G>A (p.Gly613Arg)
 gnomAD v4
5g.141573948A>CCA447088477DIAPH1c.1902T>G (p.Pro634=)
c.1770T>G (p.Pro590=)
c.1875T>G (p.Pro625=)
c.1866T>G (p.Pro622=)
c.1836T>G (p.Pro612=)
5g.141573948A>GCA447088478DIAPH1c.1902T>C (p.Pro634=)
c.1770T>C (p.Pro590=)
c.1875T>C (p.Pro625=)
c.1866T>C (p.Pro622=)
c.1836T>C (p.Pro612=)
5g.141573948A>TCA447088479DIAPH1c.1902T>A (p.Pro634=)
c.1770T>A (p.Pro590=)
c.1875T>A (p.Pro625=)
c.1866T>A (p.Pro622=)
c.1836T>A (p.Pro612=)
5g.141573949G>ACA361520160DIAPH1c.1901C>T (p.Pro634Leu)
c.1769C>T (p.Pro590Leu)
c.1874C>T (p.Pro625Leu)
c.1865C>T (p.Pro622Leu)
c.1835C>T (p.Pro612Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.141573949G>CCA361520164DIAPH1c.1901C>G (p.Pro634Arg)
c.1769C>G (p.Pro590Arg)
c.1874C>G (p.Pro625Arg)
c.1865C>G (p.Pro622Arg)
c.1835C>G (p.Pro612Arg)
 ClinVar
5g.141573949G=CA1587247957DIAPH1c.1901C= (p.Pro634=)
c.1769C= (p.Pro590=)
c.1874C= (p.Pro625=)
c.1865C= (p.Pro622=)
c.1835C= (p.Pro612=)
5g.141573949G>TCA361520166DIAPH1c.1901C>A (p.Pro634His)
c.1769C>A (p.Pro590His)
c.1874C>A (p.Pro625His)
c.1865C>A (p.Pro622His)
c.1835C>A (p.Pro612His)
5g.141573950G>ACA3479191DIAPH1c.1900C>T (p.Pro634Ser)
c.1768C>T (p.Pro590Ser)
c.1873C>T (p.Pro625Ser)
c.1864C>T (p.Pro622Ser)
c.1834C>T (p.Pro612Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.141573950G>CCA361520195DIAPH1c.1900C>G (p.Pro634Ala)
c.1768C>G (p.Pro590Ala)
c.1873C>G (p.Pro625Ala)
c.1864C>G (p.Pro622Ala)
c.1834C>G (p.Pro612Ala)
5g.141573950G=CA1587247961DIAPH1c.1900C= (p.Pro634=)
c.1768C= (p.Pro590=)
c.1873C= (p.Pro625=)
c.1864C= (p.Pro622=)
c.1834C= (p.Pro612=)
5g.141573950G>TCA361520177DIAPH1c.1900C>A (p.Pro634Thr)
c.1768C>A (p.Pro590Thr)
c.1873C>A (p.Pro625Thr)
c.1864C>A (p.Pro622Thr)
c.1834C>A (p.Pro612Thr)
5g.141573951T>ACA361520200DIAPH1c.1899A>T (p.Leu633Phe)
c.1767A>T (p.Leu589Phe)
c.1872A>T (p.Leu624Phe)
c.1863A>T (p.Leu621Phe)
c.1833A>T (p.Leu611Phe)
 gnomAD v4
5g.141573951T>CCA447088480DIAPH1c.1899A>G (p.Leu633=)
c.1767A>G (p.Leu589=)
c.1872A>G (p.Leu624=)
c.1863A>G (p.Leu621=)
c.1833A>G (p.Leu611=)
 gnomAD v4
5g.141573951T>GCA361520206DIAPH1c.1899A>C (p.Leu633Phe)
c.1767A>C (p.Leu589Phe)
c.1872A>C (p.Leu624Phe)
c.1863A>C (p.Leu621Phe)
c.1833A>C (p.Leu611Phe)
 gnomAD v3 gnomAD v4
5g.141573952A>CCA361520211DIAPH1c.1898T>G (p.Leu633Ter)
c.1766T>G (p.Leu589Ter)
c.1871T>G (p.Leu624Ter)
c.1862T>G (p.Leu621Ter)
c.1832T>G (p.Leu611Ter)
5g.141573952A>GCA361520214DIAPH1c.1898T>C (p.Leu633Ser)
c.1766T>C (p.Leu589Ser)
c.1871T>C (p.Leu624Ser)
c.1862T>C (p.Leu621Ser)
c.1832T>C (p.Leu611Ser)
5g.141573952A>TCA361520218DIAPH1c.1898T>A (p.Leu633Ter)
c.1766T>A (p.Leu589Ter)
c.1871T>A (p.Leu624Ter)
c.1862T>A (p.Leu621Ter)
c.1832T>A (p.Leu611Ter)
5g.141573952_141573955delinsAAAGCA1587247964DIAPH1c.1895_1898delinsCTTT (p.Ser632=)
c.1763_1766delinsCTTT (p.Ser588=)
c.1868_1871delinsCTTT (p.Ser623=)
c.1859_1862delinsCTTT (p.Ser620=)
c.1829_1832delinsCTTT (p.Ser610=)
5g.141573953A>CCA361520230DIAPH1c.1897T>G (p.Leu633Val)
c.1765T>G (p.Leu589Val)
c.1870T>G (p.Leu624Val)
c.1861T>G (p.Leu621Val)
c.1831T>G (p.Leu611Val)
5g.141573953A>GCA447088483DIAPH1c.1897T>C (p.Leu633=)
c.1765T>C (p.Leu589=)
c.1870T>C (p.Leu624=)
c.1861T>C (p.Leu621=)
c.1831T>C (p.Leu611=)
5g.141573953A>TCA361520233DIAPH1c.1897T>A (p.Leu633Ile)
c.1765T>A (p.Leu589Ile)
c.1870T>A (p.Leu624Ile)
c.1861T>A (p.Leu621Ile)
c.1831T>A (p.Leu611Ile)
5g.141573956_141573958delCA804796879DIAPH1c.1895_1897del (p.Ser632del)
c.1763_1765del (p.Ser588del)
c.1868_1870del (p.Ser623del)
c.1859_1861del (p.Ser620del)
c.1829_1831del (p.Ser610del)
 ClinVar dbSNP gnomAD v4
5g.141573954A>CCA447088484DIAPH1c.1896T>G (p.Ser632=)
c.1764T>G (p.Ser588=)
c.1869T>G (p.Ser623=)
c.1860T>G (p.Ser620=)
c.1830T>G (p.Ser610=)
5g.141573954A>GCA447088485DIAPH1c.1896T>C (p.Ser632=)
c.1764T>C (p.Ser588=)
c.1869T>C (p.Ser623=)
c.1860T>C (p.Ser620=)
c.1830T>C (p.Ser610=)
 gnomAD v4
5g.141573954A>TCA447088486DIAPH1c.1896T>A (p.Ser632=)
c.1764T>A (p.Ser588=)
c.1869T>A (p.Ser623=)
c.1860T>A (p.Ser620=)
c.1830T>A (p.Ser610=)
5g.141573955G>ACA361520239DIAPH1c.1895C>T (p.Ser632Phe)
c.1763C>T (p.Ser588Phe)
c.1868C>T (p.Ser623Phe)
c.1859C>T (p.Ser620Phe)
c.1829C>T (p.Ser610Phe)
 gnomAD v4
5g.141573955G>CCA361520253DIAPH1c.1895C>G (p.Ser632Cys)
c.1763C>G (p.Ser588Cys)
c.1868C>G (p.Ser623Cys)
c.1859C>G (p.Ser620Cys)
c.1829C>G (p.Ser610Cys)
5g.141573955G>TCA361520257DIAPH1c.1895C>A (p.Ser632Tyr)
c.1763C>A (p.Ser588Tyr)
c.1868C>A (p.Ser623Tyr)
c.1859C>A (p.Ser620Tyr)
c.1829C>A (p.Ser610Tyr)
5g.141573956A=CA1587247969DIAPH1c.1894T= (p.Ser632=)
c.1762T= (p.Ser588=)
c.1867T= (p.Ser623=)
c.1858T= (p.Ser620=)
c.1828T= (p.Ser610=)
5g.141573956A>CCA361520261DIAPH1c.1894T>G (p.Ser632Ala)
c.1762T>G (p.Ser588Ala)
c.1867T>G (p.Ser623Ala)
c.1858T>G (p.Ser620Ala)
c.1828T>G (p.Ser610Ala)
5g.141573956A>GCA128437244DIAPH1c.1894T>C (p.Ser632Pro)
c.1762T>C (p.Ser588Pro)
c.1867T>C (p.Ser623Pro)
c.1858T>C (p.Ser620Pro)
c.1828T>C (p.Ser610Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573956A>TCA361520265DIAPH1c.1894T>A (p.Ser632Thr)
c.1762T>A (p.Ser588Thr)
c.1867T>A (p.Ser623Thr)
c.1858T>A (p.Ser620Thr)
c.1828T>A (p.Ser610Thr)
5g.141573957A=CA1587247976DIAPH1c.1893T= (p.Pro631=)
c.1761T= (p.Pro587=)
c.1866T= (p.Pro622=)
c.1857T= (p.Pro619=)
c.1827T= (p.Pro609=)
5g.141573957A>CCA447088489DIAPH1c.1893T>G (p.Pro631=)
c.1761T>G (p.Pro587=)
c.1866T>G (p.Pro622=)
c.1857T>G (p.Pro619=)
c.1827T>G (p.Pro609=)
5g.141573957A>GCA447088491DIAPH1c.1893T>C (p.Pro631=)
c.1761T>C (p.Pro587=)
c.1866T>C (p.Pro622=)
c.1857T>C (p.Pro619=)
c.1827T>C (p.Pro609=)
 dbSNP gnomAD v2 gnomAD v4
5g.141573957A>TCA447088490DIAPH1c.1893T>A (p.Pro631=)
c.1761T>A (p.Pro587=)
c.1866T>A (p.Pro622=)
c.1857T>A (p.Pro619=)
c.1827T>A (p.Pro609=)
5g.141573958G>ACA361520266DIAPH1c.1892C>T (p.Pro631Leu)
c.1760C>T (p.Pro587Leu)
c.1865C>T (p.Pro622Leu)
c.1856C>T (p.Pro619Leu)
c.1826C>T (p.Pro609Leu)
5g.141573958G>CCA361520270DIAPH1c.1892C>G (p.Pro631Arg)
c.1760C>G (p.Pro587Arg)
c.1865C>G (p.Pro622Arg)
c.1856C>G (p.Pro619Arg)
c.1826C>G (p.Pro609Arg)
5g.141573958G=CA1587247979DIAPH1c.1892C= (p.Pro631=)
c.1760C= (p.Pro587=)
c.1865C= (p.Pro622=)
c.1856C= (p.Pro619=)
c.1826C= (p.Pro609=)
5g.141573958G>TCA361520267DIAPH1c.1892C>A (p.Pro631His)
c.1760C>A (p.Pro587His)
c.1865C>A (p.Pro622His)
c.1856C>A (p.Pro619His)
c.1826C>A (p.Pro609His)
 dbSNP gnomAD v4
5g.141573962dupCA2832544590DIAPH1c.1892dup (p.Ser632PhefsTer28)
c.1760dup (p.Ser588PhefsTer28)
c.1865dup (p.Ser623PhefsTer28)
c.1856dup (p.Ser620PhefsTer28)
c.1826dup (p.Ser610PhefsTer28)
5g.141573959G>ACA128437249DIAPH1c.1891C>T (p.Pro631Ser)
c.1759C>T (p.Pro587Ser)
c.1864C>T (p.Pro622Ser)
c.1855C>T (p.Pro619Ser)
c.1825C>T (p.Pro609Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573959G>CCA3479192DIAPH1c.1891C>G (p.Pro631Ala)
c.1759C>G (p.Pro587Ala)
c.1864C>G (p.Pro622Ala)
c.1855C>G (p.Pro619Ala)
c.1825C>G (p.Pro609Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573959G=CA1587247982DIAPH1c.1891C= (p.Pro631=)
c.1759C= (p.Pro587=)
c.1864C= (p.Pro622=)
c.1855C= (p.Pro619=)
c.1825C= (p.Pro609=)
5g.141573959G>TCA361520279DIAPH1c.1891C>A (p.Pro631Thr)
c.1759C>A (p.Pro587Thr)
c.1864C>A (p.Pro622Thr)
c.1855C>A (p.Pro619Thr)
c.1825C>A (p.Pro609Thr)
 ClinVar dbSNP gnomAD v4
5g.141573960G>ACA3479193DIAPH1c.1890C>T (p.Pro630=)
c.1758C>T (p.Pro586=)
c.1863C>T (p.Pro621=)
c.1854C>T (p.Pro618=)
c.1824C>T (p.Pro608=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573960G>CCA447088498DIAPH1c.1890C>G (p.Pro630=)
c.1758C>G (p.Pro586=)
c.1863C>G (p.Pro621=)
c.1854C>G (p.Pro618=)
c.1824C>G (p.Pro608=)
 gnomAD v4
5g.141573960G=CA1587247985DIAPH1c.1890C= (p.Pro630=)
c.1758C= (p.Pro586=)
c.1863C= (p.Pro621=)
c.1854C= (p.Pro618=)
c.1824C= (p.Pro608=)
5g.141573960G>TCA447088500DIAPH1c.1890C>A (p.Pro630=)
c.1758C>A (p.Pro586=)
c.1863C>A (p.Pro621=)
c.1854C>A (p.Pro618=)
c.1824C>A (p.Pro608=)
 gnomAD v4
5g.141573961G>ACA361520287DIAPH1c.1889C>T (p.Pro630Leu)
c.1757C>T (p.Pro586Leu)
c.1862C>T (p.Pro621Leu)
c.1853C>T (p.Pro618Leu)
c.1823C>T (p.Pro608Leu)
5g.141573961G>CCA361520290DIAPH1c.1889C>G (p.Pro630Arg)
c.1757C>G (p.Pro586Arg)
c.1862C>G (p.Pro621Arg)
c.1853C>G (p.Pro618Arg)
c.1823C>G (p.Pro608Arg)
5g.141573961G=CA1587247989DIAPH1c.1889C= (p.Pro630=)
c.1757C= (p.Pro586=)
c.1862C= (p.Pro621=)
c.1853C= (p.Pro618=)
c.1823C= (p.Pro608=)
5g.141573961G>TCA361520294DIAPH1c.1889C>A (p.Pro630His)
c.1757C>A (p.Pro586His)
c.1862C>A (p.Pro621His)
c.1853C>A (p.Pro618His)
c.1823C>A (p.Pro608His)
 dbSNP
5g.141573962G>ACA361520298DIAPH1c.1888C>T (p.Pro630Ser)
c.1756C>T (p.Pro586Ser)
c.1861C>T (p.Pro621Ser)
c.1852C>T (p.Pro618Ser)
c.1822C>T (p.Pro608Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.141573962G>CCA361520301DIAPH1c.1888C>G (p.Pro630Ala)
c.1756C>G (p.Pro586Ala)
c.1861C>G (p.Pro621Ala)
c.1852C>G (p.Pro618Ala)
c.1822C>G (p.Pro608Ala)
 gnomAD v4
5g.141573962G=CA1587247990DIAPH1c.1888C= (p.Pro630=)
c.1756C= (p.Pro586=)
c.1861C= (p.Pro621=)
c.1852C= (p.Pro618=)
c.1822C= (p.Pro608=)
5g.141573962G>TCA361520315DIAPH1c.1888C>A (p.Pro630Thr)
c.1756C>A (p.Pro586Thr)
c.1861C>A (p.Pro621Thr)
c.1852C>A (p.Pro618Thr)
c.1822C>A (p.Pro608Thr)
 gnomAD v4
5g.141573963T>ACA447088506DIAPH1c.1887A>T (p.Ser629=)
c.1755A>T (p.Ser585=)
c.1860A>T (p.Ser620=)
c.1851A>T (p.Ser617=)
c.1821A>T (p.Ser607=)
 gnomAD v3 gnomAD v4
5g.141573963T>CCA447088507DIAPH1c.1887A>G (p.Ser629=)
c.1755A>G (p.Ser585=)
c.1860A>G (p.Ser620=)
c.1851A>G (p.Ser617=)
c.1821A>G (p.Ser607=)
 dbSNP gnomAD v4
5g.141573963T>GCA447088508DIAPH1c.1887A>C (p.Ser629=)
c.1755A>C (p.Ser585=)
c.1860A>C (p.Ser620=)
c.1851A>C (p.Ser617=)
c.1821A>C (p.Ser607=)
 dbSNP gnomAD v3 gnomAD v4
5g.141573963T=CA1587247993DIAPH1c.1887A= (p.Ser629=)
c.1755A= (p.Ser585=)
c.1860A= (p.Ser620=)
c.1851A= (p.Ser617=)
c.1821A= (p.Ser607=)
5g.141573964G>ACA361520325DIAPH1c.1886C>T (p.Ser629Leu)
c.1754C>T (p.Ser585Leu)
c.1859C>T (p.Ser620Leu)
c.1850C>T (p.Ser617Leu)
c.1820C>T (p.Ser607Leu)
5g.141573964G>CCA361520323DIAPH1c.1886C>G (p.Ser629Ter)
c.1754C>G (p.Ser585Ter)
c.1859C>G (p.Ser620Ter)
c.1850C>G (p.Ser617Ter)
c.1820C>G (p.Ser607Ter)
5g.141573964G>TCA361520319DIAPH1c.1886C>A (p.Ser629Ter)
c.1754C>A (p.Ser585Ter)
c.1859C>A (p.Ser620Ter)
c.1850C>A (p.Ser617Ter)
c.1820C>A (p.Ser607Ter)
 gnomAD v4
5g.141573965A>CCA361520327DIAPH1c.1885T>G (p.Ser629Ala)
c.1753T>G (p.Ser585Ala)
c.1858T>G (p.Ser620Ala)
c.1849T>G (p.Ser617Ala)
c.1819T>G (p.Ser607Ala)
5g.141573965A>GCA361520332DIAPH1c.1885T>C (p.Ser629Pro)
c.1753T>C (p.Ser585Pro)
c.1858T>C (p.Ser620Pro)
c.1849T>C (p.Ser617Pro)
c.1819T>C (p.Ser607Pro)
5g.141573965A>TCA361520329DIAPH1c.1885T>A (p.Ser629Thr)
c.1753T>A (p.Ser585Thr)
c.1858T>A (p.Ser620Thr)
c.1849T>A (p.Ser617Thr)
c.1819T>A (p.Ser607Thr)
5g.141573966G>ACA3479194DIAPH1c.1884C>T (p.Ser628=)
c.1752C>T (p.Ser584=)
c.1857C>T (p.Ser619=)
c.1848C>T (p.Ser616=)
c.1818C>T (p.Ser606=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.141573966G>CCA447088514DIAPH1c.1884C>G (p.Ser628=)
c.1752C>G (p.Ser584=)
c.1857C>G (p.Ser619=)
c.1848C>G (p.Ser616=)
c.1818C>G (p.Ser606=)
5g.141573966G=CA1587247996DIAPH1c.1884C= (p.Ser628=)
c.1752C= (p.Ser584=)
c.1857C= (p.Ser619=)
c.1848C= (p.Ser616=)
c.1818C= (p.Ser606=)
5g.141573966G>TCA447088517DIAPH1c.1884C>A (p.Ser628=)
c.1752C>A (p.Ser584=)
c.1857C>A (p.Ser619=)
c.1848C>A (p.Ser616=)
c.1818C>A (p.Ser606=)
5g.141573967G>ACA361520340DIAPH1c.1883C>T (p.Ser628Phe)
c.1751C>T (p.Ser584Phe)
c.1856C>T (p.Ser619Phe)
c.1847C>T (p.Ser616Phe)
c.1817C>T (p.Ser606Phe)
5g.141573967G>CCA361520346DIAPH1c.1883C>G (p.Ser628Cys)
c.1751C>G (p.Ser584Cys)
c.1856C>G (p.Ser619Cys)
c.1847C>G (p.Ser616Cys)
c.1817C>G (p.Ser606Cys)
5g.141573967G>TCA361520349DIAPH1c.1883C>A (p.Ser628Tyr)
c.1751C>A (p.Ser584Tyr)
c.1856C>A (p.Ser619Tyr)
c.1847C>A (p.Ser616Tyr)
c.1817C>A (p.Ser606Tyr)
5g.141573968A=CA1587248002DIAPH1c.1882T= (p.Ser628=)
c.1750T= (p.Ser584=)
c.1855T= (p.Ser619=)
c.1846T= (p.Ser616=)
c.1816T= (p.Ser606=)
5g.141573968A>CCA361520355DIAPH1c.1882T>G (p.Ser628Ala)
c.1750T>G (p.Ser584Ala)
c.1855T>G (p.Ser619Ala)
c.1846T>G (p.Ser616Ala)
c.1816T>G (p.Ser606Ala)
5g.141573968A>GCA361520357DIAPH1c.1882T>C (p.Ser628Pro)
c.1750T>C (p.Ser584Pro)
c.1855T>C (p.Ser619Pro)
c.1846T>C (p.Ser616Pro)
c.1816T>C (p.Ser606Pro)
 dbSNP
5g.141573968A>TCA361520361DIAPH1c.1882T>A (p.Ser628Thr)
c.1750T>A (p.Ser584Thr)
c.1855T>A (p.Ser619Thr)
c.1846T>A (p.Ser616Thr)
c.1816T>A (p.Ser606Thr)
5g.141573969G>ACA3479195DIAPH1c.1881C>T (p.Ile627=)
c.1749C>T (p.Ile583=)
c.1854C>T (p.Ile618=)
c.1845C>T (p.Ile615=)
c.1815C>T (p.Ile605=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573969G>CCA361520369DIAPH1c.1881C>G (p.Ile627Met)
c.1749C>G (p.Ile583Met)
c.1854C>G (p.Ile618Met)
c.1845C>G (p.Ile615Met)
c.1815C>G (p.Ile605Met)
5g.141573969G=CA1587248005DIAPH1c.1881C= (p.Ile627=)
c.1749C= (p.Ile583=)
c.1854C= (p.Ile618=)
c.1845C= (p.Ile615=)
c.1815C= (p.Ile605=)
5g.141573969G>TCA447088519DIAPH1c.1881C>A (p.Ile627=)
c.1749C>A (p.Ile583=)
c.1854C>A (p.Ile618=)
c.1845C>A (p.Ile615=)
c.1815C>A (p.Ile605=)
 gnomAD v4
5g.141573970A>CCA361520377DIAPH1c.1880T>G (p.Ile627Ser)
c.1748T>G (p.Ile583Ser)
c.1853T>G (p.Ile618Ser)
c.1844T>G (p.Ile615Ser)
c.1814T>G (p.Ile605Ser)
5g.141573970A>GCA361520381DIAPH1c.1880T>C (p.Ile627Thr)
c.1748T>C (p.Ile583Thr)
c.1853T>C (p.Ile618Thr)
c.1844T>C (p.Ile615Thr)
c.1814T>C (p.Ile605Thr)
5g.141573970A>TCA361520384DIAPH1c.1880T>A (p.Ile627Asn)
c.1748T>A (p.Ile583Asn)
c.1853T>A (p.Ile618Asn)
c.1844T>A (p.Ile615Asn)
c.1814T>A (p.Ile605Asn)
5g.141573971T>ACA361520388DIAPH1c.1879A>T (p.Ile627Phe)
c.1747A>T (p.Ile583Phe)
c.1852A>T (p.Ile618Phe)
c.1843A>T (p.Ile615Phe)
c.1813A>T (p.Ile605Phe)
5g.141573971T>CCA361520394DIAPH1c.1879A>G (p.Ile627Val)
c.1747A>G (p.Ile583Val)
c.1852A>G (p.Ile618Val)
c.1843A>G (p.Ile615Val)
c.1813A>G (p.Ile605Val)
 ClinVar gnomAD v4
5g.141573971T>GCA361520397DIAPH1c.1879A>C (p.Ile627Leu)
c.1747A>C (p.Ile583Leu)
c.1852A>C (p.Ile618Leu)
c.1843A>C (p.Ile615Leu)
c.1813A>C (p.Ile605Leu)
 gnomAD v3 gnomAD v4
5g.141573972G>ACA447088528DIAPH1c.1878C>T (p.Cys626=)
c.1746C>T (p.Cys582=)
c.1851C>T (p.Cys617=)
c.1842C>T (p.Cys614=)
c.1812C>T (p.Cys604=)
 dbSNP gnomAD v2 gnomAD v4
5g.141573972G>CCA361520401DIAPH1c.1878C>G (p.Cys626Trp)
c.1746C>G (p.Cys582Trp)
c.1851C>G (p.Cys617Trp)
c.1842C>G (p.Cys614Trp)
c.1812C>G (p.Cys604Trp)
5g.141573972G=CA1587248009DIAPH1c.1878C= (p.Cys626=)
c.1746C= (p.Cys582=)
c.1851C= (p.Cys617=)
c.1842C= (p.Cys614=)
c.1812C= (p.Cys604=)
5g.141573972G>TCA361520405DIAPH1c.1878C>A (p.Cys626Ter)
c.1746C>A (p.Cys582Ter)
c.1851C>A (p.Cys617Ter)
c.1842C>A (p.Cys614Ter)
c.1812C>A (p.Cys604Ter)
5g.141573973C>ACA361520411DIAPH1c.1877G>T (p.Cys626Phe)
c.1745G>T (p.Cys582Phe)
c.1850G>T (p.Cys617Phe)
c.1841G>T (p.Cys614Phe)
c.1811G>T (p.Cys604Phe)
 gnomAD v4
5g.141573973C>GCA361520412DIAPH1c.1877G>C (p.Cys626Ser)
c.1745G>C (p.Cys582Ser)
c.1850G>C (p.Cys617Ser)
c.1841G>C (p.Cys614Ser)
c.1811G>C (p.Cys604Ser)
5g.141573973C>TCA361520418DIAPH1c.1877G>A (p.Cys626Tyr)
c.1745G>A (p.Cys582Tyr)
c.1850G>A (p.Cys617Tyr)
c.1841G>A (p.Cys614Tyr)
c.1811G>A (p.Cys604Tyr)
5g.141573974A>CCA361520428DIAPH1c.1876T>G (p.Cys626Gly)
c.1744T>G (p.Cys582Gly)
c.1849T>G (p.Cys617Gly)
c.1840T>G (p.Cys614Gly)
c.1810T>G (p.Cys604Gly)
5g.141573974A>GCA361520431DIAPH1c.1876T>C (p.Cys626Arg)
c.1744T>C (p.Cys582Arg)
c.1849T>C (p.Cys617Arg)
c.1840T>C (p.Cys614Arg)
c.1810T>C (p.Cys604Arg)
 gnomAD v4
5g.141573974A>TCA361520433DIAPH1c.1876T>A (p.Cys626Ser)
c.1744T>A (p.Cys582Ser)
c.1849T>A (p.Cys617Ser)
c.1840T>A (p.Cys614Ser)
c.1810T>A (p.Cys604Ser)
5g.141573975A>CCA447088536DIAPH1c.1875T>G (p.Val625=)
c.1743T>G (p.Val581=)
c.1848T>G (p.Val616=)
c.1839T>G (p.Val613=)
c.1809T>G (p.Val603=)
5g.141573975A>GCA447088532DIAPH1c.1875T>C (p.Val625=)
c.1743T>C (p.Val581=)
c.1848T>C (p.Val616=)
c.1839T>C (p.Val613=)
c.1809T>C (p.Val603=)
5g.141573975A>TCA447088534DIAPH1c.1875T>A (p.Val625=)
c.1743T>A (p.Val581=)
c.1848T>A (p.Val616=)
c.1839T>A (p.Val613=)
c.1809T>A (p.Val603=)
 gnomAD v4
5g.141573976A>CCA361520434DIAPH1c.1874T>G (p.Val625Gly)
c.1742T>G (p.Val581Gly)
c.1847T>G (p.Val616Gly)
c.1838T>G (p.Val613Gly)
c.1808T>G (p.Val603Gly)
5g.141573976A>GCA361520438DIAPH1c.1874T>C (p.Val625Ala)
c.1742T>C (p.Val581Ala)
c.1847T>C (p.Val616Ala)
c.1838T>C (p.Val613Ala)
c.1808T>C (p.Val603Ala)
5g.141573976A>TCA361520440DIAPH1c.1874T>A (p.Val625Asp)
c.1742T>A (p.Val581Asp)
c.1847T>A (p.Val616Asp)
c.1838T>A (p.Val613Asp)
c.1808T>A (p.Val603Asp)
5g.141573977C>ACA361520442DIAPH1c.1873G>T (p.Val625Phe)
c.1741G>T (p.Val581Phe)
c.1846G>T (p.Val616Phe)
c.1837G>T (p.Val613Phe)
c.1807G>T (p.Val603Phe)
5g.141573977C>GCA361520443DIAPH1c.1873G>C (p.Val625Leu)
c.1741G>C (p.Val581Leu)
c.1846G>C (p.Val616Leu)
c.1837G>C (p.Val613Leu)
c.1807G>C (p.Val603Leu)
5g.141573977C>TCA361520444DIAPH1c.1873G>A (p.Val625Ile)
c.1741G>A (p.Val581Ile)
c.1846G>A (p.Val616Ile)
c.1837G>A (p.Val613Ile)
c.1807G>A (p.Val603Ile)
5g.141573978A>CCA447088540DIAPH1c.1872T>G (p.Gly624=)
c.1740T>G (p.Gly580=)
c.1845T>G (p.Gly615=)
c.1836T>G (p.Gly612=)
c.1806T>G (p.Gly602=)
5g.141573978A>GCA447088542DIAPH1c.1872T>C (p.Gly624=)
c.1740T>C (p.Gly580=)
c.1845T>C (p.Gly615=)
c.1836T>C (p.Gly612=)
c.1806T>C (p.Gly602=)
5g.141573978A>TCA447088544DIAPH1c.1872T>A (p.Gly624=)
c.1740T>A (p.Gly580=)
c.1845T>A (p.Gly615=)
c.1836T>A (p.Gly612=)
c.1806T>A (p.Gly602=)
5g.141573979C>ACA361520445DIAPH1c.1871G>T (p.Gly624Val)
c.1739G>T (p.Gly580Val)
c.1844G>T (p.Gly615Val)
c.1835G>T (p.Gly612Val)
c.1805G>T (p.Gly602Val)
 dbSNP gnomAD v2 gnomAD v4
5g.141573979C=CA1587248013DIAPH1c.1871G= (p.Gly624=)
c.1739G= (p.Gly580=)
c.1844G= (p.Gly615=)
c.1835G= (p.Gly612=)
c.1805G= (p.Gly602=)
5g.141573979C>GCA361520449DIAPH1c.1871G>C (p.Gly624Ala)
c.1739G>C (p.Gly580Ala)
c.1844G>C (p.Gly615Ala)
c.1835G>C (p.Gly612Ala)
c.1805G>C (p.Gly602Ala)
5g.141573979C>TCA361520446DIAPH1c.1871G>A (p.Gly624Asp)
c.1739G>A (p.Gly580Asp)
c.1844G>A (p.Gly615Asp)
c.1835G>A (p.Gly612Asp)
c.1805G>A (p.Gly602Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573983delCA2675691792DIAPH1c.1871del (p.Gly624ValfsTer?)
c.1739del (p.Gly580ValfsTer?)
c.1844del (p.Gly615ValfsTer?)
c.1835del (p.Gly612ValfsTer?)
c.1805del (p.Gly602ValfsTer?)
 gnomAD v4
5g.141573980C>ACA361520467DIAPH1c.1870G>T (p.Gly624Cys)
c.1738G>T (p.Gly580Cys)
c.1843G>T (p.Gly615Cys)
c.1834G>T (p.Gly612Cys)
c.1804G>T (p.Gly602Cys)
 gnomAD v4
5g.141573980C=CA1587248019DIAPH1c.1870G= (p.Gly624=)
c.1738G= (p.Gly580=)
c.1843G= (p.Gly615=)
c.1834G= (p.Gly612=)
c.1804G= (p.Gly602=)
5g.141573980C>GCA361520470DIAPH1c.1870G>C (p.Gly624Arg)
c.1738G>C (p.Gly580Arg)
c.1843G>C (p.Gly615Arg)
c.1834G>C (p.Gly612Arg)
c.1804G>C (p.Gly602Arg)
 gnomAD v4
5g.141573980C>TCA361520474DIAPH1c.1870G>A (p.Gly624Ser)
c.1738G>A (p.Gly580Ser)
c.1843G>A (p.Gly615Ser)
c.1834G>A (p.Gly612Ser)
c.1804G>A (p.Gly602Ser)
 dbSNP
5g.141573981C>ACA447088552DIAPH1c.1869G>T (p.Gly623=)
c.1737G>T (p.Gly579=)
c.1842G>T (p.Gly614=)
c.1833G>T (p.Gly611=)
c.1803G>T (p.Gly601=)
 gnomAD v4
5g.141573981C>GCA447088550DIAPH1c.1869G>C (p.Gly623=)
c.1737G>C (p.Gly579=)
c.1842G>C (p.Gly614=)
c.1833G>C (p.Gly611=)
c.1803G>C (p.Gly601=)
5g.141573981C>TCA447088551DIAPH1c.1869G>A (p.Gly623=)
c.1737G>A (p.Gly579=)
c.1842G>A (p.Gly614=)
c.1833G>A (p.Gly611=)
c.1803G>A (p.Gly601=)
 gnomAD v4
5g.141573982C>ACA361520478DIAPH1c.1868G>T (p.Gly623Val)
c.1736G>T (p.Gly579Val)
c.1841G>T (p.Gly614Val)
c.1832G>T (p.Gly611Val)
c.1802G>T (p.Gly601Val)
 gnomAD v4
5g.141573982C>GCA361520483DIAPH1c.1868G>C (p.Gly623Ala)
c.1736G>C (p.Gly579Ala)
c.1841G>C (p.Gly614Ala)
c.1832G>C (p.Gly611Ala)
c.1802G>C (p.Gly601Ala)
5g.141573982C>TCA361520486DIAPH1c.1868G>A (p.Gly623Glu)
c.1736G>A (p.Gly579Glu)
c.1841G>A (p.Gly614Glu)
c.1832G>A (p.Gly611Glu)
c.1802G>A (p.Gly601Glu)
 gnomAD v4
5g.141573983C>ACA361520491DIAPH1c.1867G>T (p.Gly623Trp)
c.1735G>T (p.Gly579Trp)
c.1840G>T (p.Gly614Trp)
c.1831G>T (p.Gly611Trp)
c.1801G>T (p.Gly601Trp)
 gnomAD v4
5g.141573983C>GCA361520492DIAPH1c.1867G>C (p.Gly623Arg)
c.1735G>C (p.Gly579Arg)
c.1840G>C (p.Gly614Arg)
c.1831G>C (p.Gly611Arg)
c.1801G>C (p.Gly601Arg)
5g.141573983C>TCA361520494DIAPH1c.1867G>A (p.Gly623Arg)
c.1735G>A (p.Gly579Arg)
c.1840G>A (p.Gly614Arg)
c.1831G>A (p.Gly611Arg)
c.1801G>A (p.Gly601Arg)
5g.141573984A>CCA447088557DIAPH1c.1866T>G (p.Pro622=)
c.1734T>G (p.Pro578=)
c.1839T>G (p.Pro613=)
c.1830T>G (p.Pro610=)
c.1800T>G (p.Pro600=)
5g.141573984A>GCA447088559DIAPH1c.1866T>C (p.Pro622=)
c.1734T>C (p.Pro578=)
c.1839T>C (p.Pro613=)
c.1830T>C (p.Pro610=)
c.1800T>C (p.Pro600=)
5g.141573984A>TCA447088561DIAPH1c.1866T>A (p.Pro622=)
c.1734T>A (p.Pro578=)
c.1839T>A (p.Pro613=)
c.1830T>A (p.Pro610=)
c.1800T>A (p.Pro600=)
5g.141573985G>ACA361520500DIAPH1c.1865C>T (p.Pro622Leu)
c.1733C>T (p.Pro578Leu)
c.1838C>T (p.Pro613Leu)
c.1829C>T (p.Pro610Leu)
c.1799C>T (p.Pro600Leu)
 dbSNP
5g.141573985G>CCA361520508DIAPH1c.1865C>G (p.Pro622Arg)
c.1733C>G (p.Pro578Arg)
c.1838C>G (p.Pro613Arg)
c.1829C>G (p.Pro610Arg)
c.1799C>G (p.Pro600Arg)
5g.141573985G=CA1587248022DIAPH1c.1865C= (p.Pro622=)
c.1733C= (p.Pro578=)
c.1838C= (p.Pro613=)
c.1829C= (p.Pro610=)
c.1799C= (p.Pro600=)
5g.141573985G>TCA361520511DIAPH1c.1865C>A (p.Pro622His)
c.1733C>A (p.Pro578His)
c.1838C>A (p.Pro613His)
c.1829C>A (p.Pro610His)
c.1799C>A (p.Pro600His)
5g.141573986G>ACA361520521DIAPH1c.1864C>T (p.Pro622Ser)
c.1732C>T (p.Pro578Ser)
c.1837C>T (p.Pro613Ser)
c.1828C>T (p.Pro610Ser)
c.1798C>T (p.Pro600Ser)
 gnomAD v4
5g.141573986G>CCA361520515DIAPH1c.1864C>G (p.Pro622Ala)
c.1732C>G (p.Pro578Ala)
c.1837C>G (p.Pro613Ala)
c.1828C>G (p.Pro610Ala)
c.1798C>G (p.Pro600Ala)
5g.141573986G>TCA361520519DIAPH1c.1864C>A (p.Pro622Thr)
c.1732C>A (p.Pro578Thr)
c.1837C>A (p.Pro613Thr)
c.1828C>A (p.Pro610Thr)
c.1798C>A (p.Pro600Thr)
 gnomAD v4
5g.141573987C>ACA361520523DIAPH1c.1863G>T (p.Leu621Phe)
c.1731G>T (p.Leu577Phe)
c.1836G>T (p.Leu612Phe)
c.1827G>T (p.Leu609Phe)
c.1797G>T (p.Leu599Phe)
 dbSNP gnomAD v3 gnomAD v4
5g.141573987C=CA1587248026DIAPH1c.1863G= (p.Leu621=)
c.1731G= (p.Leu577=)
c.1836G= (p.Leu612=)
c.1827G= (p.Leu609=)
c.1797G= (p.Leu599=)
5g.141573987C>GCA361520526DIAPH1c.1863G>C (p.Leu621Phe)
c.1731G>C (p.Leu577Phe)
c.1836G>C (p.Leu612Phe)
c.1827G>C (p.Leu609Phe)
c.1797G>C (p.Leu599Phe)
5g.141573987C>TCA447088564DIAPH1c.1863G>A (p.Leu621=)
c.1731G>A (p.Leu577=)
c.1836G>A (p.Leu612=)
c.1827G>A (p.Leu609=)
c.1797G>A (p.Leu599=)
 gnomAD v4
5g.141573987_141574002delinsCAAAGGAGGTGGAGGACA1587248024DIAPH1c.1848_1863delinsTCCTCCACCTCCTTTG (p.Pro616=)
c.1716_1731delinsTCCTCCACCTCCTTTG (p.Pro572=)
c.1821_1836delinsTCCTCCACCTCCTTTG (p.Pro607=)
c.1812_1827delinsTCCTCCACCTCCTTTG (p.Pro604=)
c.1782_1797delinsTCCTCCACCTCCTTTG (p.Pro594=)
5g.141573988A>CCA361520530DIAPH1c.1862T>G (p.Leu621Trp)
c.1730T>G (p.Leu577Trp)
c.1835T>G (p.Leu612Trp)
c.1826T>G (p.Leu609Trp)
c.1796T>G (p.Leu599Trp)
5g.141573988A>GCA361520531DIAPH1c.1862T>C (p.Leu621Ser)
c.1730T>C (p.Leu577Ser)
c.1835T>C (p.Leu612Ser)
c.1826T>C (p.Leu609Ser)
c.1796T>C (p.Leu599Ser)
5g.141573988A>TCA361520532DIAPH1c.1862T>A (p.Leu621Ter)
c.1730T>A (p.Leu577Ter)
c.1835T>A (p.Leu612Ter)
c.1826T>A (p.Leu609Ter)
c.1796T>A (p.Leu599Ter)
5g.141573988_141574002delCA891842528DIAPH1c.1848_1862del (p.Pro617_Leu621del)
c.1716_1730del (p.Pro573_Leu577del)
c.1821_1835del (p.Pro608_Leu612del)
c.1812_1826del (p.Pro605_Leu609del)
c.1782_1796del (p.Pro595_Leu599del)
 ClinVar dbSNP
5g.141573989A=CA1587248041DIAPH1c.1861T= (p.Leu621=)
c.1729T= (p.Leu577=)
c.1834T= (p.Leu612=)
c.1825T= (p.Leu609=)
c.1795T= (p.Leu599=)
5g.141573989A>CCA128437260DIAPH1c.1861T>G (p.Leu621Val)
c.1729T>G (p.Leu577Val)
c.1834T>G (p.Leu612Val)
c.1825T>G (p.Leu609Val)
c.1795T>G (p.Leu599Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573989A>GCA447088570DIAPH1c.1861T>C (p.Leu621=)
c.1729T>C (p.Leu577=)
c.1834T>C (p.Leu612=)
c.1825T>C (p.Leu609=)
c.1795T>C (p.Leu599=)
5g.141573989A>TCA361520534DIAPH1c.1861T>A (p.Leu621Met)
c.1729T>A (p.Leu577Met)
c.1834T>A (p.Leu612Met)
c.1825T>A (p.Leu609Met)
c.1795T>A (p.Leu599Met)
5g.141573990A=CA1587248055DIAPH1c.1860T= (p.Pro620=)
c.1728T= (p.Pro576=)
c.1833T= (p.Pro611=)
c.1824T= (p.Pro608=)
c.1794T= (p.Pro598=)
5g.141573990A>CCA447088572DIAPH1c.1860T>G (p.Pro620=)
c.1728T>G (p.Pro576=)
c.1833T>G (p.Pro611=)
c.1824T>G (p.Pro608=)
c.1794T>G (p.Pro598=)
5g.141573990A>GCA447088573DIAPH1c.1860T>C (p.Pro620=)
c.1728T>C (p.Pro576=)
c.1833T>C (p.Pro611=)
c.1824T>C (p.Pro608=)
c.1794T>C (p.Pro598=)
 gnomAD v4
5g.141573990A>TCA447088574DIAPH1c.1860T>A (p.Pro620=)
c.1728T>A (p.Pro576=)
c.1833T>A (p.Pro611=)
c.1824T>A (p.Pro608=)
c.1794T>A (p.Pro598=)
5g.141573993_141573995dupCA563502797DIAPH1c.1858_1860dup (p.Pro620_Leu621insPro)
c.1726_1728dup (p.Pro576_Leu577insPro)
c.1831_1833dup (p.Pro611_Leu612insPro)
c.1822_1824dup (p.Pro608_Leu609insPro)
c.1792_1794dup (p.Pro598_Leu599insPro)
 dbSNP gnomAD v2 gnomAD v4
5g.141573993_141573995delCA2578432700DIAPH1c.1858_1860del (p.Pro620del)
c.1726_1728del (p.Pro576del)
c.1831_1833del (p.Pro611del)
c.1822_1824del (p.Pro608del)
c.1792_1794del (p.Pro598del)
5g.141573996_141574004dupCA563502796DIAPH1c.1852_1860dup (p.Pro620_Leu621insProProPro)
c.1720_1728dup (p.Pro576_Leu577insProProPro)
c.1825_1833dup (p.Pro611_Leu612insProProPro)
c.1816_1824dup (p.Pro608_Leu609insProProPro)
c.1786_1794dup (p.Pro598_Leu599insProProPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573996_141574007dupCA2675691812DIAPH1c.1849_1860dup (p.Pro620_Leu621insProProProPro)
c.1717_1728dup (p.Pro576_Leu577insProProProPro)
c.1822_1833dup (p.Pro611_Leu612insProProProPro)
c.1813_1824dup (p.Pro608_Leu609insProProProPro)
c.1783_1794dup (p.Pro598_Leu599insProProProPro)
 gnomAD v4
5g.141573996_141574013delCA2675691811DIAPH1c.1843_1860del (p.Pro615_Pro620del)
c.1711_1728del (p.Pro571_Pro576del)
c.1816_1833del (p.Pro606_Pro611del)
c.1807_1824del (p.Pro603_Pro608del)
c.1777_1794del (p.Pro593_Pro598del)
 gnomAD v4
5g.141573996_141574016dupCA2675691813DIAPH1c.1840_1860dup (p.Pro620_Leu621insProProProProProProPro)
c.1708_1728dup (p.Pro576_Leu577insProProProProProProPro)
c.1813_1833dup (p.Pro611_Leu612insProProProProProProPro)
c.1804_1824dup (p.Pro608_Leu609insProProProProProProPro)
c.1774_1794dup (p.Pro598_Leu599insProProProProProProPro)
 ClinVar gnomAD v4
5g.141573991G>ACA128437263DIAPH1c.1859C>T (p.Pro620Leu)
c.1727C>T (p.Pro576Leu)
c.1832C>T (p.Pro611Leu)
c.1823C>T (p.Pro608Leu)
c.1793C>T (p.Pro598Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573991G>CCA361520547DIAPH1c.1859C>G (p.Pro620Arg)
c.1727C>G (p.Pro576Arg)
c.1832C>G (p.Pro611Arg)
c.1823C>G (p.Pro608Arg)
c.1793C>G (p.Pro598Arg)
5g.141573991G=CA1587248069DIAPH1c.1859C= (p.Pro620=)
c.1727C= (p.Pro576=)
c.1832C= (p.Pro611=)
c.1823C= (p.Pro608=)
c.1793C= (p.Pro598=)
5g.141573991G>TCA3479197DIAPH1c.1859C>A (p.Pro620His)
c.1727C>A (p.Pro576His)
c.1832C>A (p.Pro611His)
c.1823C>A (p.Pro608His)
c.1793C>A (p.Pro598His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573995_141573996insGGGAGGCA1082278911DIAPH1c.1859_1860insCCCTCC (p.Pro620_Leu621insProPro)
c.1727_1728insCCCTCC (p.Pro576_Leu577insProPro)
c.1832_1833insCCCTCC (p.Pro611_Leu612insProPro)
c.1823_1824insCCCTCC (p.Pro608_Leu609insProPro)
c.1793_1794insCCCTCC (p.Pro598_Leu599insProPro)
 ClinVar gnomAD v3 gnomAD v4
5g.141573996_141574001dupCA3479196DIAPH1c.1854_1859dup (p.Pro620_Leu621insProPro)
c.1722_1727dup (p.Pro576_Leu577insProPro)
c.1827_1832dup (p.Pro611_Leu612insProPro)
c.1818_1823dup (p.Pro608_Leu609insProPro)
c.1788_1793dup (p.Pro598_Leu599insProPro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573992G>ACA361520564DIAPH1c.1858C>T (p.Pro620Ser)
c.1726C>T (p.Pro576Ser)
c.1831C>T (p.Pro611Ser)
c.1822C>T (p.Pro608Ser)
c.1792C>T (p.Pro598Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.141573992G>CCA361520563DIAPH1c.1858C>G (p.Pro620Ala)
c.1726C>G (p.Pro576Ala)
c.1831C>G (p.Pro611Ala)
c.1822C>G (p.Pro608Ala)
c.1792C>G (p.Pro598Ala)
 gnomAD v4
5g.141573992G=CA1587248076DIAPH1c.1858C= (p.Pro620=)
c.1726C= (p.Pro576=)
c.1831C= (p.Pro611=)
c.1822C= (p.Pro608=)
c.1792C= (p.Pro598=)
5g.141573992G>TCA361520562DIAPH1c.1858C>A (p.Pro620Thr)
c.1726C>A (p.Pro576Thr)
c.1831C>A (p.Pro611Thr)
c.1822C>A (p.Pro608Thr)
c.1792C>A (p.Pro598Thr)
 dbSNP gnomAD v2
5g.141573993A=CA1587248079DIAPH1c.1857T= (p.Pro619=)
c.1725T= (p.Pro575=)
c.1830T= (p.Pro610=)
c.1821T= (p.Pro607=)
c.1791T= (p.Pro597=)
5g.141573993A>CCA447088577DIAPH1c.1857T>G (p.Pro619=)
c.1725T>G (p.Pro575=)
c.1830T>G (p.Pro610=)
c.1821T>G (p.Pro607=)
c.1791T>G (p.Pro597=)
5g.141573993A>GCA447088578DIAPH1c.1857T>C (p.Pro619=)
c.1725T>C (p.Pro575=)
c.1830T>C (p.Pro610=)
c.1821T>C (p.Pro607=)
c.1791T>C (p.Pro597=)
5g.141573993A>TCA447088579DIAPH1c.1857T>A (p.Pro619=)
c.1725T>A (p.Pro575=)
c.1830T>A (p.Pro610=)
c.1821T>A (p.Pro607=)
c.1791T>A (p.Pro597=)
 gnomAD v4
5g.141573994G>ACA361520570DIAPH1c.1856C>T (p.Pro619Leu)
c.1724C>T (p.Pro575Leu)
c.1829C>T (p.Pro610Leu)
c.1820C>T (p.Pro607Leu)
c.1790C>T (p.Pro597Leu)
 ClinVar dbSNP gnomAD v4
5g.141573994G>CCA361520567DIAPH1c.1856C>G (p.Pro619Arg)
c.1724C>G (p.Pro575Arg)
c.1829C>G (p.Pro610Arg)
c.1820C>G (p.Pro607Arg)
c.1790C>G (p.Pro597Arg)
5g.141573994G>TCA361520571DIAPH1c.1856C>A (p.Pro619His)
c.1724C>A (p.Pro575His)
c.1829C>A (p.Pro610His)
c.1820C>A (p.Pro607His)
c.1790C>A (p.Pro597His)
 gnomAD v4
5g.141573995_141573996insGGGCA1082278915DIAPH1c.1856_1857insCCC (p.Pro619_Pro620insPro)
c.1724_1725insCCC (p.Pro575_Pro576insPro)
c.1829_1830insCCC (p.Pro610_Pro611insPro)
c.1820_1821insCCC (p.Pro607_Pro608insPro)
c.1790_1791insCCC (p.Pro597_Pro598insPro)
 gnomAD v3 gnomAD v4
5g.141573996_141573998dupCA1587248082DIAPH1c.1854_1856dup (p.Pro619_Pro620insPro)
c.1722_1724dup (p.Pro575_Pro576insPro)
c.1827_1829dup (p.Pro610_Pro611insPro)
c.1818_1820dup (p.Pro607_Pro608insPro)
c.1788_1790dup (p.Pro597_Pro598insPro)
 ClinVar dbSNP gnomAD v4
5g.141573996_141573998delCA645558436DIAPH1c.1854_1856del (p.Pro619del)
c.1722_1724del (p.Pro575del)
c.1827_1829del (p.Pro610del)
c.1818_1820del (p.Pro607del)
c.1788_1790del (p.Pro597del)
 gnomAD v4 COSMIC
5g.141573995G>ACA361520572DIAPH1c.1855C>T (p.Pro619Ser)
c.1723C>T (p.Pro575Ser)
c.1828C>T (p.Pro610Ser)
c.1819C>T (p.Pro607Ser)
c.1789C>T (p.Pro597Ser)
5g.141573995G>CCA361520573DIAPH1c.1855C>G (p.Pro619Ala)
c.1723C>G (p.Pro575Ala)
c.1828C>G (p.Pro610Ala)
c.1819C>G (p.Pro607Ala)
c.1789C>G (p.Pro597Ala)
5g.141573995G>TCA361520575DIAPH1c.1855C>A (p.Pro619Thr)
c.1723C>A (p.Pro575Thr)
c.1828C>A (p.Pro610Thr)
c.1819C>A (p.Pro607Thr)
c.1789C>A (p.Pro597Thr)
5g.141573996delCA1082278920DIAPH1c.1854del (p.Pro619LeufsTer?)
c.1722del (p.Pro575LeufsTer?)
c.1827del (p.Pro610LeufsTer?)
c.1818del (p.Pro607LeufsTer?)
c.1788del (p.Pro597LeufsTer?)
 gnomAD v3 gnomAD v4
5g.141573996T>ACA128437265DIAPH1c.1854A>T (p.Pro618=)
c.1722A>T (p.Pro574=)
c.1827A>T (p.Pro609=)
c.1818A>T (p.Pro606=)
c.1788A>T (p.Pro596=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141573996T>CCA447088585DIAPH1c.1854A>G (p.Pro618=)
c.1722A>G (p.Pro574=)
c.1827A>G (p.Pro609=)
c.1818A>G (p.Pro606=)
c.1788A>G (p.Pro596=)
 gnomAD v4
5g.141573996T>GCA447088586DIAPH1c.1854A>C (p.Pro618=)
c.1722A>C (p.Pro574=)
c.1827A>C (p.Pro609=)
c.1818A>C (p.Pro606=)
c.1788A>C (p.Pro596=)
 dbSNP gnomAD v3 gnomAD v4
5g.141573996T=CA1587248089DIAPH1c.1854A= (p.Pro618=)
c.1722A= (p.Pro574=)
c.1827A= (p.Pro609=)
c.1818A= (p.Pro606=)
c.1788A= (p.Pro596=)
5g.141573996_141573999delinsTGGACA2695196635DIAPH1c.1851_1854delinsTCCA (p.Pro617=)
c.1719_1722delinsTCCA (p.Pro573=)
c.1824_1827delinsTCCA (p.Pro608=)
c.1815_1818delinsTCCA (p.Pro605=)
c.1785_1788delinsTCCA (p.Pro595=)
5g.141573996_141574017delinsTGGAGGAGGAGGAGGAGGAGGACA1587248090DIAPH1c.1833_1854delinsTCCTCCTCCTCCTCCTCCTCCA (p.Pro611=)
c.1701_1722delinsTCCTCCTCCTCCTCCTCCTCCA (p.Pro567=)
c.1806_1827delinsTCCTCCTCCTCCTCCTCCTCCA (p.Pro602=)
c.1797_1818delinsTCCTCCTCCTCCTCCTCCTCCA (p.Pro599=)
c.1767_1788delinsTCCTCCTCCTCCTCCTCCTCCA (p.Pro589=)
5g.141573997G>ACA361520618DIAPH1c.1853C>T (p.Pro618Leu)
c.1721C>T (p.Pro574Leu)
c.1826C>T (p.Pro609Leu)
c.1817C>T (p.Pro606Leu)
c.1787C>T (p.Pro596Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141573997G>CCA361520617DIAPH1c.1853C>G (p.Pro618Arg)
c.1721C>G (p.Pro574Arg)
c.1826C>G (p.Pro609Arg)
c.1817C>G (p.Pro606Arg)
c.1787C>G (p.Pro596Arg)
5g.141573997G=CA1587248136DIAPH1c.1853C= (p.Pro618=)
c.1721C= (p.Pro574=)
c.1826C= (p.Pro609=)
c.1817C= (p.Pro606=)
c.1787C= (p.Pro596=)
5g.141573997G>TCA361520625DIAPH1c.1853C>A (p.Pro618Gln)
c.1721C>A (p.Pro574Gln)
c.1826C>A (p.Pro609Gln)
c.1817C>A (p.Pro606Gln)
c.1787C>A (p.Pro596Gln)
 gnomAD v4
5g.141573997_141573998insAGCA2675691845DIAPH1c.1853_1854insTC (p.Pro619HisfsTer?)
c.1721_1722insTC (p.Pro575HisfsTer?)
c.1826_1827insTC (p.Pro610HisfsTer?)
c.1817_1818insTC (p.Pro607HisfsTer?)
c.1787_1788insTC (p.Pro597HisfsTer?)
 gnomAD v4
5g.141573998_141573999insTGGAGGCA2578432701DIAPH1c.1853_1854insTCCACC (p.Pro618_Pro619insProPro)
c.1721_1722insTCCACC (p.Pro574_Pro575insProPro)
c.1826_1827insTCCACC (p.Pro609_Pro610insProPro)
c.1817_1818insTCCACC (p.Pro606_Pro607insProPro)
c.1787_1788insTCCACC (p.Pro596_Pro597insProPro)
5g.141573997_141573999delinsGGACA1587248127DIAPH1c.1851_1853delinsTCC (p.Pro617=)
c.1719_1721delinsTCC (p.Pro573=)
c.1824_1826delinsTCC (p.Pro608=)
c.1815_1817delinsTCC (p.Pro605=)
c.1785_1787delinsTCC (p.Pro595=)
5g.141574007_141574008insTGGAGGAGGAGGAGGAGGCA2675691844DIAPH1c.1853_1854insTCCTCCACCTCCTCCTCC (p.Pro618_Pro619insProProProProProPro)
c.1721_1722insTCCTCCACCTCCTCCTCC (p.Pro574_Pro575insProProProProProPro)
c.1826_1827insTCCTCCACCTCCTCCTCC (p.Pro609_Pro610insProProProProProPro)
c.1817_1818insTCCTCCACCTCCTCCTCC (p.Pro606_Pro607insProProProProProPro)
c.1787_1788insTCCTCCACCTCCTCCTCC (p.Pro596_Pro597insProProProProProPro)
 gnomAD v4
5g.141574028_141574030dupCA201274DIAPH1c.1851_1853dup (p.Pro618_Pro619insPro)
c.1719_1721dup (p.Pro574_Pro575insPro)
c.1824_1826dup (p.Pro609_Pro610insPro)
c.1815_1817dup (p.Pro606_Pro607insPro)
c.1785_1787dup (p.Pro596_Pro597insPro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.141574025_141574030dupCA3479198DIAPH1c.1848_1853dup (p.Pro618_Pro619insProPro)
c.1716_1721dup (p.Pro574_Pro575insProPro)
c.1821_1826dup (p.Pro609_Pro610insProPro)
c.1812_1817dup (p.Pro606_Pro607insProPro)
c.1782_1787dup (p.Pro596_Pro597insProPro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141574022_141574030dupCA563502799DIAPH1c.1845_1853dup (p.Pro618_Pro619insProProPro)
c.1713_1721dup (p.Pro574_Pro575insProProPro)
c.1818_1826dup (p.Pro609_Pro610insProProPro)
c.1809_1817dup (p.Pro606_Pro607insProProPro)
c.1779_1787dup (p.Pro596_Pro597insProProPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141574019_141574030dupCA913108378DIAPH1c.1842_1853dup (p.Pro618_Pro619insProProProPro)
c.1710_1721dup (p.Pro574_Pro575insProProProPro)
c.1815_1826dup (p.Pro609_Pro610insProProProPro)
c.1806_1817dup (p.Pro606_Pro607insProProProPro)
c.1776_1787dup (p.Pro596_Pro597insProProProPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141574016_141574030dupCA563502798DIAPH1c.1839_1853dup (p.Pro618_Pro619insProProProProPro)
c.1707_1721dup (p.Pro574_Pro575insProProProProPro)
c.1812_1826dup (p.Pro609_Pro610insProProProProPro)
c.1803_1817dup (p.Pro606_Pro607insProProProProPro)
c.1773_1787dup (p.Pro596_Pro597insProProProProPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141574013_141574030dupCA1587248140DIAPH1c.1836_1853dup (p.Pro618_Pro619insProProProProProPro)
c.1704_1721dup (p.Pro574_Pro575insProProProProProPro)
c.1809_1826dup (p.Pro609_Pro610insProProProProProPro)
c.1800_1817dup (p.Pro606_Pro607insProProProProProPro)
c.1770_1787dup (p.Pro596_Pro597insProProProProProPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141574010_141574030dupCA1082278968DIAPH1c.1833_1853dup (p.Pro618_Pro619insProProProProProProPro)
c.1701_1721dup (p.Pro574_Pro575insProProProProProProPro)
c.1806_1826dup (p.Pro609_Pro610insProProProProProProPro)
c.1797_1817dup (p.Pro606_Pro607insProProProProProProPro)
c.1767_1787dup (p.Pro596_Pro597insProProProProProProPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141574007_141574030dupCA2675691843DIAPH1c.1830_1853dup (p.Pro618_Pro619insProProProProProProProPro)
c.1698_1721dup (p.Pro574_Pro575insProProProProProProProPro)
c.1803_1826dup (p.Pro609_Pro610insProProProProProProProPro)
c.1794_1817dup (p.Pro606_Pro607insProProProProProProProPro)
c.1764_1787dup (p.Pro596_Pro597insProProProProProProProPro)
 gnomAD v4
5g.141574028_141574030delCA3479199DIAPH1c.1851_1853del (p.Pro618del)
c.1719_1721del (p.Pro574del)
c.1824_1826del (p.Pro609del)
c.1815_1817del (p.Pro606del)
c.1785_1787del (p.Pro596del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.141574025_141574030delCA3479200DIAPH1c.1848_1853del (p.Pro617_Pro618del)
c.1716_1721del (p.Pro573_Pro574del)
c.1821_1826del (p.Pro608_Pro609del)
c.1812_1817del (p.Pro605_Pro606del)
c.1782_1787del (p.Pro595_Pro596del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141574022_141574030delCA128437269DIAPH1c.1845_1853del (p.Pro616_Pro618del)
c.1713_1721del (p.Pro572_Pro574del)
c.1818_1826del (p.Pro607_Pro609del)
c.1809_1817del (p.Pro604_Pro606del)
c.1779_1787del (p.Pro594_Pro596del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141574019_141574030delCA3479201DIAPH1c.1842_1853del (p.Pro615_Pro618del)
c.1710_1721del (p.Pro571_Pro574del)
c.1815_1826del (p.Pro606_Pro609del)
c.1806_1817del (p.Pro603_Pro606del)
c.1776_1787del (p.Pro593_Pro596del)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.141574016_141574030delCA3479202DIAPH1c.1839_1853del (p.Pro614_Pro618del)
c.1707_1721del (p.Pro570_Pro574del)
c.1812_1826del (p.Pro605_Pro609del)
c.1803_1817del (p.Pro602_Pro606del)
c.1773_1787del (p.Pro592_Pro596del)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.141574013_141574030delCA804796992DIAPH1c.1836_1853del (p.Pro613_Pro618del)
c.1704_1721del (p.Pro569_Pro574del)
c.1809_1826del (p.Pro604_Pro609del)
c.1800_1817del (p.Pro601_Pro606del)
c.1770_1787del (p.Pro591_Pro596del)
 dbSNP gnomAD v3 gnomAD v4
5g.141574010_141574030delCA804796990DIAPH1c.1833_1853del (p.Pro612_Pro618del)
c.1701_1721del (p.Pro568_Pro574del)
c.1806_1826del (p.Pro603_Pro609del)
c.1797_1817del (p.Pro600_Pro606del)
c.1767_1787del (p.Pro590_Pro596del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.141574007_141574030delCA2675691841DIAPH1c.1830_1853del (p.Pro611_Pro618del)
c.1698_1721del (p.Pro567_Pro574del)
c.1803_1826del (p.Pro602_Pro609del)
c.1794_1817del (p.Pro599_Pro606del)
c.1764_1787del (p.Pro589_Pro596del)
 gnomAD v4
5g.141573998G>ACA3479203DIAPH1c.1852C>T (p.Pro618Ser)
c.1720C>T (p.Pro574Ser)
c.1825C>T (p.Pro609Ser)
c.1816C>T (p.Pro606Ser)
c.1786C>T (p.Pro596Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.141573998G>CCA361520629DIAPH1c.1852C>G (p.Pro618Ala)
c.1720C>G (p.Pro574Ala)
c.1825C>G (p.Pro609Ala)
c.1816C>G (p.Pro606Ala)
c.1786C>G (p.Pro596Ala)
5g.141573998G=CA1587248174DIAPH1c.1852C= (p.Pro618=)
c.1720C= (p.Pro574=)
c.1825C= (p.Pro609=)
c.1816C= (p.Pro606=)
c.1786C= (p.Pro596=)
5g.141573998G>TCA361520630DIAPH1c.1852C>A (p.Pro618Thr)
c.1720C>A (p.Pro574Thr)
c.1825C>A (p.Pro609Thr)
c.1816C>A (p.Pro606Thr)
c.1786C>A (p.Pro596Thr)
 ClinVar gnomAD v4
5g.141573999_141574000delCA563502800DIAPH1c.1851_1852del (p.Pro618ThrfsTer?)
c.1719_1720del (p.Pro574ThrfsTer?)
c.1824_1825del (p.Pro609ThrfsTer?)
c.1815_1816del (p.Pro606ThrfsTer?)
c.1785_1786del (p.Pro596ThrfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.141574002_141574003insAGAGGACA1139771539DIAPH1c.1852_1853insTTCCTC (p.Pro617_Pro618insLeuPro)
c.1720_1721insTTCCTC (p.Pro573_Pro574insLeuPro)
c.1825_1826insTTCCTC (p.Pro608_Pro609insLeuPro)
c.1816_1817insTTCCTC (p.Pro605_Pro606insLeuPro)
c.1786_1787insTTCCTC (p.Pro595_Pro596insLeuPro)
5g.141573999A=CA1587248181DIAPH1c.1851T= (p.Pro617=)
c.1719T= (p.Pro573=)
c.1824T= (p.Pro608=)
c.1815T= (p.Pro605=)
c.1785T= (p.Pro595=)
5g.141573999A>CCA447088612DIAPH1c.1851T>G (p.Pro617=)
c.1719T>G (p.Pro573=)
c.1824T>G (p.Pro608=)
c.1815T>G (p.Pro605=)
c.1785T>G (p.Pro595=)
 dbSNP gnomAD v2 gnomAD v4
5g.141573999A>GCA447088611DIAPH1c.1851T>C (p.Pro617=)
c.1719T>C (p.Pro573=)
c.1824T>C (p.Pro608=)
c.1815T>C (p.Pro605=)
c.1785T>C (p.Pro595=)
 gnomAD v4
5g.141573999A>TCA447088613DIAPH1c.1851T>A (p.Pro617=)
c.1719T>A (p.Pro573=)
c.1824T>A (p.Pro608=)
c.1815T>A (p.Pro605=)
c.1785T>A (p.Pro595=)
 dbSNP gnomAD v2 gnomAD v4
5g.141574000G>ACA361520644DIAPH1c.1850C>T (p.Pro617Leu)
c.1718C>T (p.Pro573Leu)
c.1823C>T (p.Pro608Leu)
c.1814C>T (p.Pro605Leu)
c.1784C>T (p.Pro595Leu)
 dbSNP gnomAD v2 gnomAD v4
5g.141574000G>CCA361520631DIAPH1c.1850C>G (p.Pro617Arg)
c.1718C>G (p.Pro573Arg)
c.1823C>G (p.Pro608Arg)
c.1814C>G (p.Pro605Arg)
c.1784C>G (p.Pro595Arg)
5g.141574000G=CA1587248187DIAPH1c.1850C= (p.Pro617=)
c.1718C= (p.Pro573=)
c.1823C= (p.Pro608=)
c.1814C= (p.Pro605=)
c.1784C= (p.Pro595=)
5g.141574000G>TCA361520641DIAPH1c.1850C>A (p.Pro617His)
c.1718C>A (p.Pro573His)
c.1823C>A (p.Pro608His)
c.1814C>A (p.Pro605His)
c.1784C>A (p.Pro595His)
 gnomAD v4
5g.141574001_141574002insTGGCA563502801DIAPH1c.1850_1851insACC (p.Pro617_Pro618insPro)
c.1718_1719insACC (p.Pro573_Pro574insPro)
c.1823_1824insACC (p.Pro608_Pro609insPro)
c.1814_1815insACC (p.Pro605_Pro606insPro)
c.1784_1785insACC (p.Pro595_Pro596insPro)
 dbSNP gnomAD v2 gnomAD v4
5g.141574004_141574005insTGGAGGCA2578432702DIAPH1c.1850_1851insACCTCC (p.Pro617_Pro618insProPro)
c.1718_1719insACCTCC (p.Pro573_Pro574insProPro)
c.1823_1824insACCTCC (p.Pro608_Pro609insProPro)
c.1814_1815insACCTCC (p.Pro605_Pro606insProPro)
c.1784_1785insACCTCC (p.Pro595_Pro596insProPro)
 gnomAD v4
5g.141574001G>ACA128437295DIAPH1c.1849C>T (p.Pro617Ser)
c.1717C>T (p.Pro573Ser)
c.1822C>T (p.Pro608Ser)
c.1813C>T (p.Pro605Ser)
c.1783C>T (p.Pro595Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.141574001G>CCA361520656DIAPH1c.1849C>G (p.Pro617Ala)
c.1717C>G (p.Pro573Ala)
c.1822C>G (p.Pro608Ala)
c.1813C>G (p.Pro605Ala)
c.1783C>G (p.Pro595Ala)
5g.141574001G=CA1587248191DIAPH1c.1849C= (p.Pro617=)
c.1717C= (p.Pro573=)
c.1822C= (p.Pro608=)
c.1813C= (p.Pro605=)
c.1783C= (p.Pro595=)
5g.141574001G>TCA361520659DIAPH1c.1849C>A (p.Pro617Thr)
c.1717C>A (p.Pro573Thr)
c.1822C>A (p.Pro608Thr)
c.1813C>A (p.Pro605Thr)
c.1783C>A (p.Pro595Thr)
 gnomAD v4
5g.141574002A=CA1587248196DIAPH1c.1848T= (p.Pro616=)
c.1716T= (p.Pro572=)
c.1821T= (p.Pro607=)
c.1812T= (p.Pro604=)
c.1782T= (p.Pro594=)
5g.141574002A>CCA447088619DIAPH1c.1848T>G (p.Pro616=)
c.1716T>G (p.Pro572=)
c.1821T>G (p.Pro607=)
c.1812T>G (p.Pro604=)
c.1782T>G (p.Pro594=)
5g.141574002A>GCA447088617DIAPH1c.1848T>C (p.Pro616=)
c.1716T>C (p.Pro572=)
c.1821T>C (p.Pro607=)
c.1812T>C (p.Pro604=)
c.1782T>C (p.Pro594=)
5g.141574002A>TCA447088616DIAPH1c.1848T>A (p.Pro616=)
c.1716T>A (p.Pro572=)
c.1821T>A (p.Pro607=)
c.1812T>A (p.Pro604=)
c.1782T>A (p.Pro594=)
 dbSNP gnomAD v2 gnomAD v4
5g.141574003G>ACA361520664DIAPH1c.1847C>T (p.Pro616Leu)
c.1715C>T (p.Pro572Leu)
c.1820C>T (p.Pro607Leu)
c.1811C>T (p.Pro604Leu)
c.1781C>T (p.Pro594Leu)
 dbSNP gnomAD v2 gnomAD v4
5g.141574003G>CCA361520667DIAPH1c.1847C>G (p.Pro616Arg)
c.1715C>G (p.Pro572Arg)
c.1820C>G (p.Pro607Arg)
c.1811C>G (p.Pro604Arg)
c.1781C>G (p.Pro594Arg)
5g.141574003G=CA1587248199DIAPH1c.1847C= (p.Pro616=)
c.1715C= (p.Pro572=)
c.1820C= (p.Pro607=)
c.1811C= (p.Pro604=)
c.1781C= (p.Pro594=)
5g.141574003G>TCA361520672DIAPH1c.1847C>A (p.Pro616His)
c.1715C>A (p.Pro572His)
c.1820C>A (p.Pro607His)
c.1811C>A (p.Pro604His)
c.1781C>A (p.Pro594His)
 gnomAD v4
5g.141574004G>ACA361520683DIAPH1c.1846C>T (p.Pro616Ser)
c.1714C>T (p.Pro572Ser)
c.1819C>T (p.Pro607Ser)
c.1810C>T (p.Pro604Ser)
c.1780C>T (p.Pro594Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.141574004G>CCA361520687DIAPH1c.1846C>G (p.Pro616Ala)
c.1714C>G (p.Pro572Ala)
c.1819C>G (p.Pro607Ala)
c.1810C>G (p.Pro604Ala)
c.1780C>G (p.Pro594Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.141574004G=CA1587248201DIAPH1c.1846C= (p.Pro616=)
c.1714C= (p.Pro572=)
c.1819C= (p.Pro607=)
c.1810C= (p.Pro604=)
c.1780C= (p.Pro594=)
5g.141574004G>TCA361520680DIAPH1c.1846C>A (p.Pro616Thr)
c.1714C>A (p.Pro572Thr)
c.1819C>A (p.Pro607Thr)
c.1810C>A (p.Pro604Thr)
c.1780C>A (p.Pro594Thr)
 gnomAD v4

Number of alleles fetched