| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.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 |
| 5 | g.141573905C>A | CA361519818 | DIAPH1 | c.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 |
| 5 | g.141573905C>G | CA361519831 | DIAPH1 | c.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 |
| 5 | g.141573905C>T | CA361519835 | DIAPH1 | c.1945G>A (p.Ala649Thr) c.1813G>A (p.Ala605Thr) c.1918G>A (p.Ala640Thr) c.1909G>A (p.Ala637Thr) c.1879G>A (p.Ala627Thr) | |
| 5 | g.141573906A>C | CA361519839 | DIAPH1 | c.1944T>G (p.Asp648Glu) c.1812T>G (p.Asp604Glu) c.1917T>G (p.Asp639Glu) c.1908T>G (p.Asp636Glu) c.1878T>G (p.Asp626Glu) | |
| 5 | g.141573906A>G | CA447088388 | DIAPH1 | c.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 |
| 5 | g.141573906A>T | CA361519842 | DIAPH1 | c.1944T>A (p.Asp648Glu) c.1812T>A (p.Asp604Glu) c.1917T>A (p.Asp639Glu) c.1908T>A (p.Asp636Glu) c.1878T>A (p.Asp626Glu) | |
| 5 | g.141573907T>A | CA361519856 | DIAPH1 | c.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 |
| 5 | g.141573907T>C | CA10620387 | DIAPH1 | c.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 |
| 5 | g.141573907T>G | CA361519845 | DIAPH1 | c.1943A>C (p.Asp648Ala) c.1811A>C (p.Asp604Ala) c.1916A>C (p.Asp639Ala) c.1907A>C (p.Asp636Ala) c.1877A>C (p.Asp626Ala) | |
| 5 | g.141573907T= | CA1587247864 | DIAPH1 | c.1943A= (p.Asp648=) c.1811A= (p.Asp604=) c.1916A= (p.Asp639=) c.1907A= (p.Asp636=) c.1877A= (p.Asp626=) | |
| 5 | g.141573908C>A | CA361519860 | DIAPH1 | c.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 |
| 5 | g.141573908C>G | CA361519862 | DIAPH1 | c.1942G>C (p.Asp648His) c.1810G>C (p.Asp604His) c.1915G>C (p.Asp639His) c.1906G>C (p.Asp636His) c.1876G>C (p.Asp626His) | |
| 5 | g.141573908C>T | CA361519863 | DIAPH1 | c.1942G>A (p.Asp648Asn) c.1810G>A (p.Asp604Asn) c.1915G>A (p.Asp639Asn) c.1906G>A (p.Asp636Asn) c.1876G>A (p.Asp626Asn) | |
| 5 | g.141573909C>A | CA447088392 | DIAPH1 | c.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 |
| 5 | g.141573909C>G | CA447088394 | DIAPH1 | c.1941G>C (p.Gly647=) c.1809G>C (p.Gly603=) c.1914G>C (p.Gly638=) c.1905G>C (p.Gly635=) c.1875G>C (p.Gly625=) | |
| 5 | g.141573909C>T | CA447088395 | DIAPH1 | c.1941G>A (p.Gly647=) c.1809G>A (p.Gly603=) c.1914G>A (p.Gly638=) c.1905G>A (p.Gly635=) c.1875G>A (p.Gly625=) | |
| 5 | g.141573910C>A | CA361519865 | DIAPH1 | c.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 |
| 5 | g.141573910C= | CA1587247867 | DIAPH1 | c.1940G= (p.Gly647=) c.1808G= (p.Gly603=) c.1913G= (p.Gly638=) c.1904G= (p.Gly635=) c.1874G= (p.Gly625=) | |
| 5 | g.141573910C>G | CA361519868 | DIAPH1 | c.1940G>C (p.Gly647Ala) c.1808G>C (p.Gly603Ala) c.1913G>C (p.Gly638Ala) c.1904G>C (p.Gly635Ala) c.1874G>C (p.Gly625Ala) | |
| 5 | g.141573910C>T | CA361519870 | DIAPH1 | c.1940G>A (p.Gly647Glu) c.1808G>A (p.Gly603Glu) c.1913G>A (p.Gly638Glu) c.1904G>A (p.Gly635Glu) c.1874G>A (p.Gly625Glu) | |
| 5 | g.141573910_141573914delinsCCAGA | CA1587247870 | DIAPH1 | c.1936_1940delinsTCTGG (p.Ser646=) c.1804_1808delinsTCTGG (p.Ser602=) c.1909_1913delinsTCTGG (p.Ser637=) c.1900_1904delinsTCTGG (p.Ser634=) c.1870_1874delinsTCTGG (p.Ser624=) | |
| 5 | g.141573911C>A | CA361519888 | DIAPH1 | c.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 |
| 5 | g.141573911C>G | CA361519875 | DIAPH1 | c.1939G>C (p.Gly647Arg) c.1807G>C (p.Gly603Arg) c.1912G>C (p.Gly638Arg) c.1903G>C (p.Gly635Arg) c.1873G>C (p.Gly625Arg) | |
| 5 | g.141573911C>T | CA361519884 | DIAPH1 | c.1939G>A (p.Gly647Arg) c.1807G>A (p.Gly603Arg) c.1912G>A (p.Gly638Arg) c.1903G>A (p.Gly635Arg) c.1873G>A (p.Gly625Arg) | |
| 5 | g.141573913_141573916del | CA1587247879 | DIAPH1 | c.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 |
| 5 | g.141573912A>C | CA447088399 | DIAPH1 | c.1938T>G (p.Ser646=) c.1806T>G (p.Ser602=) c.1911T>G (p.Ser637=) c.1902T>G (p.Ser634=) c.1872T>G (p.Ser624=) | |
| 5 | g.141573912A>G | CA447088400 | DIAPH1 | c.1938T>C (p.Ser646=) c.1806T>C (p.Ser602=) c.1911T>C (p.Ser637=) c.1902T>C (p.Ser634=) c.1872T>C (p.Ser624=) | |
| 5 | g.141573912A>T | CA447088402 | DIAPH1 | c.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 |
| 5 | g.141573913G>A | CA361519894 | DIAPH1 | c.1937C>T (p.Ser646Phe) c.1805C>T (p.Ser602Phe) c.1910C>T (p.Ser637Phe) c.1901C>T (p.Ser634Phe) c.1871C>T (p.Ser624Phe) | |
| 5 | g.141573913G>C | CA361519897 | DIAPH1 | c.1937C>G (p.Ser646Cys) c.1805C>G (p.Ser602Cys) c.1910C>G (p.Ser637Cys) c.1901C>G (p.Ser634Cys) c.1871C>G (p.Ser624Cys) | |
| 5 | g.141573913G>T | CA361519899 | DIAPH1 | c.1937C>A (p.Ser646Tyr) c.1805C>A (p.Ser602Tyr) c.1910C>A (p.Ser637Tyr) c.1901C>A (p.Ser634Tyr) c.1871C>A (p.Ser624Tyr) | |
| 5 | g.141573914A>C | CA361519907 | DIAPH1 | c.1936T>G (p.Ser646Ala) c.1804T>G (p.Ser602Ala) c.1909T>G (p.Ser637Ala) c.1900T>G (p.Ser634Ala) c.1870T>G (p.Ser624Ala) | |
| 5 | g.141573914A>G | CA361519912 | DIAPH1 | c.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 |
| 5 | g.141573914A>T | CA361519917 | DIAPH1 | c.1936T>A (p.Ser646Thr) c.1804T>A (p.Ser602Thr) c.1909T>A (p.Ser637Thr) c.1900T>A (p.Ser634Thr) c.1870T>A (p.Ser624Thr) | |
| 5 | g.141573915C>A | CA361519923 | DIAPH1 | c.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 |
| 5 | g.141573915C= | CA1587247881 | DIAPH1 | c.1935G= (p.Leu645=) c.1803G= (p.Leu601=) c.1908G= (p.Leu636=) c.1899G= (p.Leu633=) c.1869G= (p.Leu623=) | |
| 5 | g.141573915C>G | CA361519920 | DIAPH1 | c.1935G>C (p.Leu645Phe) c.1803G>C (p.Leu601Phe) c.1908G>C (p.Leu636Phe) c.1899G>C (p.Leu633Phe) c.1869G>C (p.Leu623Phe) | |
| 5 | g.141573915C>T | CA447088408 | DIAPH1 | c.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 |
| 5 | g.141573916A>C | CA361519927 | DIAPH1 | c.1934T>G (p.Leu645Trp) c.1802T>G (p.Leu601Trp) c.1907T>G (p.Leu636Trp) c.1898T>G (p.Leu633Trp) c.1868T>G (p.Leu623Trp) | |
| 5 | g.141573916A>G | CA361519929 | DIAPH1 | c.1934T>C (p.Leu645Ser) c.1802T>C (p.Leu601Ser) c.1907T>C (p.Leu636Ser) c.1898T>C (p.Leu633Ser) c.1868T>C (p.Leu623Ser) | |
| 5 | g.141573916A>T | CA361519942 | DIAPH1 | c.1934T>A (p.Leu645Ter) c.1802T>A (p.Leu601Ter) c.1907T>A (p.Leu636Ter) c.1898T>A (p.Leu633Ter) c.1868T>A (p.Leu623Ter) | |
| 5 | g.141573917A>C | CA361519946 | DIAPH1 | c.1933T>G (p.Leu645Val) c.1801T>G (p.Leu601Val) c.1906T>G (p.Leu636Val) c.1897T>G (p.Leu633Val) c.1867T>G (p.Leu623Val) | |
| 5 | g.141573917A>G | CA447088409 | DIAPH1 | c.1933T>C (p.Leu645=) c.1801T>C (p.Leu601=) c.1906T>C (p.Leu636=) c.1897T>C (p.Leu633=) c.1867T>C (p.Leu623=) | |
| 5 | g.141573917A>T | CA361519947 | DIAPH1 | c.1933T>A (p.Leu645Met) c.1801T>A (p.Leu601Met) c.1906T>A (p.Leu636Met) c.1897T>A (p.Leu633Met) c.1867T>A (p.Leu623Met) | |
| 5 | g.141573918A= | CA1587247887 | DIAPH1 | c.1932T= (p.Pro644=) c.1800T= (p.Pro600=) c.1905T= (p.Pro635=) c.1896T= (p.Pro632=) c.1866T= (p.Pro622=) | |
| 5 | g.141573918A>C | CA447088411 | DIAPH1 | c.1932T>G (p.Pro644=) c.1800T>G (p.Pro600=) c.1905T>G (p.Pro635=) c.1896T>G (p.Pro632=) c.1866T>G (p.Pro622=) | |
| 5 | g.141573918A>G | CA447088412 | DIAPH1 | c.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 |
| 5 | g.141573918A>T | CA3479187 | DIAPH1 | c.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 |
| 5 | g.141573919G>A | CA361519954 | DIAPH1 | c.1931C>T (p.Pro644Leu) c.1799C>T (p.Pro600Leu) c.1904C>T (p.Pro635Leu) c.1895C>T (p.Pro632Leu) c.1865C>T (p.Pro622Leu) | |
| 5 | g.141573919G>C | CA361519967 | DIAPH1 | c.1931C>G (p.Pro644Arg) c.1799C>G (p.Pro600Arg) c.1904C>G (p.Pro635Arg) c.1895C>G (p.Pro632Arg) c.1865C>G (p.Pro622Arg) | |
| 5 | g.141573919G>T | CA361519963 | DIAPH1 | c.1931C>A (p.Pro644His) c.1799C>A (p.Pro600His) c.1904C>A (p.Pro635His) c.1895C>A (p.Pro632His) c.1865C>A (p.Pro622His) | |
| 5 | g.141573919_141573920delinsAA | CA645558435 | DIAPH1 | c.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 |
| 5 | g.141573920G>A | CA361519971 | DIAPH1 | c.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 |
| 5 | g.141573920G>C | CA361519982 | DIAPH1 | c.1930C>G (p.Pro644Ala) c.1798C>G (p.Pro600Ala) c.1903C>G (p.Pro635Ala) c.1894C>G (p.Pro632Ala) c.1864C>G (p.Pro622Ala) | |
| 5 | g.141573920G= | CA1587247892 | DIAPH1 | c.1930C= (p.Pro644=) c.1798C= (p.Pro600=) c.1903C= (p.Pro635=) c.1894C= (p.Pro632=) c.1864C= (p.Pro622=) | |
| 5 | g.141573920G>T | CA361519986 | DIAPH1 | c.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 |
| 5 | g.141573921A>C | CA447088420 | DIAPH1 | c.1929T>G (p.Pro643=) c.1797T>G (p.Pro599=) c.1902T>G (p.Pro634=) c.1893T>G (p.Pro631=) c.1863T>G (p.Pro621=) | |
| 5 | g.141573921A>G | CA447088421 | DIAPH1 | c.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 |
| 5 | g.141573921A>T | CA447088422 | DIAPH1 | c.1929T>A (p.Pro643=) c.1797T>A (p.Pro599=) c.1902T>A (p.Pro634=) c.1893T>A (p.Pro631=) c.1863T>A (p.Pro621=) | |
| 5 | g.141573922G>A | CA3479188 | DIAPH1 | c.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 |
| 5 | g.141573922G>C | CA361519990 | DIAPH1 | c.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 |
| 5 | g.141573922G= | CA1587247894 | DIAPH1 | c.1928C= (p.Pro643=) c.1796C= (p.Pro599=) c.1901C= (p.Pro634=) c.1892C= (p.Pro631=) c.1862C= (p.Pro621=) | |
| 5 | g.141573922G>T | CA361519992 | DIAPH1 | c.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 |
| 5 | g.141573926del | CA2675691760 | DIAPH1 | c.1928del (p.Pro643LeufsTer?) c.1796del (p.Pro599LeufsTer?) c.1901del (p.Pro634LeufsTer?) c.1892del (p.Pro631LeufsTer?) c.1862del (p.Pro621LeufsTer?) | gnomAD v4 |
| 5 | g.141573923G>A | CA361519995 | DIAPH1 | c.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 |
| 5 | g.141573923G>C | CA3479189 | DIAPH1 | c.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 |
| 5 | g.141573923G= | CA1587247898 | DIAPH1 | c.1927C= (p.Pro643=) c.1795C= (p.Pro599=) c.1900C= (p.Pro634=) c.1891C= (p.Pro631=) c.1861C= (p.Pro621=) | |
| 5 | g.141573923G>T | CA361519996 | DIAPH1 | c.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 |
| 5 | g.141573924G>A | CA447088428 | DIAPH1 | c.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 |
| 5 | g.141573924G>C | CA128437226 | DIAPH1 | c.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 |
| 5 | g.141573924G= | CA1587247903 | DIAPH1 | c.1926C= (p.Pro642=) c.1794C= (p.Pro598=) c.1899C= (p.Pro633=) c.1890C= (p.Pro630=) c.1860C= (p.Pro620=) | |
| 5 | g.141573924G>T | CA447088430 | DIAPH1 | c.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 |
| 5 | g.141573925G>A | CA361519997 | DIAPH1 | c.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 |
| 5 | g.141573925G>C | CA361520000 | DIAPH1 | c.1925C>G (p.Pro642Arg) c.1793C>G (p.Pro598Arg) c.1898C>G (p.Pro633Arg) c.1889C>G (p.Pro630Arg) c.1859C>G (p.Pro620Arg) | |
| 5 | g.141573925G= | CA1587247912 | DIAPH1 | c.1925C= (p.Pro642=) c.1793C= (p.Pro598=) c.1898C= (p.Pro633=) c.1889C= (p.Pro630=) c.1859C= (p.Pro620=) | |
| 5 | g.141573925G>T | CA361520002 | DIAPH1 | c.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 |
| 5 | g.141573926G>A | CA361520007 | DIAPH1 | c.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 |
| 5 | g.141573926G>C | CA361520008 | DIAPH1 | c.1924C>G (p.Pro642Ala) c.1792C>G (p.Pro598Ala) c.1897C>G (p.Pro633Ala) c.1888C>G (p.Pro630Ala) c.1858C>G (p.Pro620Ala) | |
| 5 | g.141573926G= | CA1587247915 | DIAPH1 | c.1924C= (p.Pro642=) c.1792C= (p.Pro598=) c.1897C= (p.Pro633=) c.1888C= (p.Pro630=) c.1858C= (p.Pro620=) | |
| 5 | g.141573926G>T | CA361520006 | DIAPH1 | c.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 |
| 5 | g.141573927T>A | CA447088434 | DIAPH1 | c.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 |
| 5 | g.141573927T>C | CA447088440 | DIAPH1 | c.1923A>G (p.Pro641=) c.1791A>G (p.Pro597=) c.1896A>G (p.Pro632=) c.1887A>G (p.Pro629=) c.1857A>G (p.Pro619=) | |
| 5 | g.141573927T>G | CA447088436 | DIAPH1 | c.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 |
| 5 | g.141573927T= | CA1587247918 | DIAPH1 | c.1923A= (p.Pro641=) c.1791A= (p.Pro597=) c.1896A= (p.Pro632=) c.1887A= (p.Pro629=) c.1857A= (p.Pro619=) | |
| 5 | g.141573928G>A | CA361520010 | DIAPH1 | c.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 |
| 5 | g.141573928G>C | CA361520011 | DIAPH1 | c.1922C>G (p.Pro641Arg) c.1790C>G (p.Pro597Arg) c.1895C>G (p.Pro632Arg) c.1886C>G (p.Pro629Arg) c.1856C>G (p.Pro619Arg) | |
| 5 | g.141573928G>T | CA361520015 | DIAPH1 | c.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 |
| 5 | g.141573929G>A | CA361520019 | DIAPH1 | c.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 |
| 5 | g.141573929G>C | CA361520021 | DIAPH1 | c.1921C>G (p.Pro641Ala) c.1789C>G (p.Pro597Ala) c.1894C>G (p.Pro632Ala) c.1885C>G (p.Pro629Ala) c.1855C>G (p.Pro619Ala) | |
| 5 | g.141573929G= | CA1587247922 | DIAPH1 | c.1921C= (p.Pro641=) c.1789C= (p.Pro597=) c.1894C= (p.Pro632=) c.1885C= (p.Pro629=) c.1855C= (p.Pro619=) | |
| 5 | g.141573929G>T | CA361520026 | DIAPH1 | c.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 |
| 5 | g.141573930A>C | CA447088441 | DIAPH1 | c.1920T>G (p.Ser640=) c.1788T>G (p.Ser596=) c.1893T>G (p.Ser631=) c.1884T>G (p.Ser628=) c.1854T>G (p.Ser618=) | |
| 5 | g.141573930A>G | CA447088442 | DIAPH1 | c.1920T>C (p.Ser640=) c.1788T>C (p.Ser596=) c.1893T>C (p.Ser631=) c.1884T>C (p.Ser628=) c.1854T>C (p.Ser618=) | |
| 5 | g.141573930A>T | CA447088444 | DIAPH1 | c.1920T>A (p.Ser640=) c.1788T>A (p.Ser596=) c.1893T>A (p.Ser631=) c.1884T>A (p.Ser628=) c.1854T>A (p.Ser618=) | |
| 5 | g.141573931G>A | CA361520035 | DIAPH1 | c.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 |
| 5 | g.141573931G>C | CA361520042 | DIAPH1 | c.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 |
| 5 | g.141573931G= | CA1587247926 | DIAPH1 | c.1919C= (p.Ser640=) c.1787C= (p.Ser596=) c.1892C= (p.Ser631=) c.1883C= (p.Ser628=) c.1853C= (p.Ser618=) | |
| 5 | g.141573931G>T | CA361520039 | DIAPH1 | c.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 |
| 5 | g.141573932A>C | CA361520048 | DIAPH1 | c.1918T>G (p.Ser640Ala) c.1786T>G (p.Ser596Ala) c.1891T>G (p.Ser631Ala) c.1882T>G (p.Ser628Ala) c.1852T>G (p.Ser618Ala) | |
| 5 | g.141573932A>G | CA361520050 | DIAPH1 | c.1918T>C (p.Ser640Pro) c.1786T>C (p.Ser596Pro) c.1891T>C (p.Ser631Pro) c.1882T>C (p.Ser628Pro) c.1852T>C (p.Ser618Pro) | |
| 5 | g.141573932A>T | CA361520053 | DIAPH1 | c.1918T>A (p.Ser640Thr) c.1786T>A (p.Ser596Thr) c.1891T>A (p.Ser631Thr) c.1882T>A (p.Ser628Thr) c.1852T>A (p.Ser618Thr) | |
| 5 | g.141573933G>A | CA447088449 | DIAPH1 | c.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 |
| 5 | g.141573933G>C | CA361520057 | DIAPH1 | c.1917C>G (p.Ile639Met) c.1785C>G (p.Ile595Met) c.1890C>G (p.Ile630Met) c.1881C>G (p.Ile627Met) c.1851C>G (p.Ile617Met) | |
| 5 | g.141573933G= | CA1587247932 | DIAPH1 | c.1917C= (p.Ile639=) c.1785C= (p.Ile595=) c.1890C= (p.Ile630=) c.1881C= (p.Ile627=) c.1851C= (p.Ile617=) | |
| 5 | g.141573933G>T | CA447088450 | DIAPH1 | c.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 |
| 5 | g.141573934del | CA2675691761 | DIAPH1 | c.1916del (p.Ile639ThrfsTer?) c.1784del (p.Ile595ThrfsTer?) c.1889del (p.Ile630ThrfsTer?) c.1880del (p.Ile627ThrfsTer?) c.1850del (p.Ile617ThrfsTer?) | gnomAD v4 |
| 5 | g.141573934A>C | CA361520060 | DIAPH1 | c.1916T>G (p.Ile639Ser) c.1784T>G (p.Ile595Ser) c.1889T>G (p.Ile630Ser) c.1880T>G (p.Ile627Ser) c.1850T>G (p.Ile617Ser) | |
| 5 | g.141573934A>G | CA361520066 | DIAPH1 | c.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 |
| 5 | g.141573934A>T | CA361520063 | DIAPH1 | c.1916T>A (p.Ile639Asn) c.1784T>A (p.Ile595Asn) c.1889T>A (p.Ile630Asn) c.1880T>A (p.Ile627Asn) c.1850T>A (p.Ile617Asn) | |
| 5 | g.141573935T>A | CA3479190 | DIAPH1 | c.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 |
| 5 | g.141573935T>C | CA361520075 | DIAPH1 | c.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 |
| 5 | g.141573935T>G | CA361520080 | DIAPH1 | c.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 |
| 5 | g.141573935T= | CA1587247934 | DIAPH1 | c.1915A= (p.Ile639=) c.1783A= (p.Ile595=) c.1888A= (p.Ile630=) c.1879A= (p.Ile627=) c.1849A= (p.Ile617=) | |
| 5 | g.141573936A>C | CA447088459 | DIAPH1 | c.1914T>G (p.Ala638=) c.1782T>G (p.Ala594=) c.1887T>G (p.Ala629=) c.1878T>G (p.Ala626=) c.1848T>G (p.Ala616=) | |
| 5 | g.141573936A>G | CA447088458 | DIAPH1 | c.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 |
| 5 | g.141573936A>T | CA447088456 | DIAPH1 | c.1914T>A (p.Ala638=) c.1782T>A (p.Ala594=) c.1887T>A (p.Ala629=) c.1878T>A (p.Ala626=) c.1848T>A (p.Ala616=) | |
| 5 | g.141573937G>A | CA361520085 | DIAPH1 | c.1913C>T (p.Ala638Val) c.1781C>T (p.Ala594Val) c.1886C>T (p.Ala629Val) c.1877C>T (p.Ala626Val) c.1847C>T (p.Ala616Val) | |
| 5 | g.141573937G>C | CA361520095 | DIAPH1 | c.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 |
| 5 | g.141573937G= | CA1587247941 | DIAPH1 | c.1913C= (p.Ala638=) c.1781C= (p.Ala594=) c.1886C= (p.Ala629=) c.1877C= (p.Ala626=) c.1847C= (p.Ala616=) | |
| 5 | g.141573937G>T | CA361520099 | DIAPH1 | c.1913C>A (p.Ala638Asp) c.1781C>A (p.Ala594Asp) c.1886C>A (p.Ala629Asp) c.1877C>A (p.Ala626Asp) c.1847C>A (p.Ala616Asp) | |
| 5 | g.141573938C>A | CA361520104 | DIAPH1 | c.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 |
| 5 | g.141573938C= | CA1587247945 | DIAPH1 | c.1912G= (p.Ala638=) c.1780G= (p.Ala594=) c.1885G= (p.Ala629=) c.1876G= (p.Ala626=) c.1846G= (p.Ala616=) | |
| 5 | g.141573938C>G | CA361520101 | DIAPH1 | c.1912G>C (p.Ala638Pro) c.1780G>C (p.Ala594Pro) c.1885G>C (p.Ala629Pro) c.1876G>C (p.Ala626Pro) c.1846G>C (p.Ala616Pro) | |
| 5 | g.141573938C>T | CA361520100 | DIAPH1 | c.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 |
| 5 | g.141573939A>C | CA447088461 | DIAPH1 | c.1911T>G (p.Thr637=) c.1779T>G (p.Thr593=) c.1884T>G (p.Thr628=) c.1875T>G (p.Thr625=) c.1845T>G (p.Thr615=) | |
| 5 | g.141573939A>G | CA447088462 | DIAPH1 | c.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 |
| 5 | g.141573939A>T | CA447088463 | DIAPH1 | c.1911T>A (p.Thr637=) c.1779T>A (p.Thr593=) c.1884T>A (p.Thr628=) c.1875T>A (p.Thr625=) c.1845T>A (p.Thr615=) | |
| 5 | g.141573940G>A | CA361520107 | DIAPH1 | c.1910C>T (p.Thr637Ile) c.1778C>T (p.Thr593Ile) c.1883C>T (p.Thr628Ile) c.1874C>T (p.Thr625Ile) c.1844C>T (p.Thr615Ile) | |
| 5 | g.141573940G>C | CA361520110 | DIAPH1 | c.1910C>G (p.Thr637Ser) c.1778C>G (p.Thr593Ser) c.1883C>G (p.Thr628Ser) c.1874C>G (p.Thr625Ser) c.1844C>G (p.Thr615Ser) | |
| 5 | g.141573940G>T | CA361520114 | DIAPH1 | c.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 |
| 5 | g.141573941T>A | CA361520116 | DIAPH1 | c.1909A>T (p.Thr637Ser) c.1777A>T (p.Thr593Ser) c.1882A>T (p.Thr628Ser) c.1873A>T (p.Thr625Ser) c.1843A>T (p.Thr615Ser) | |
| 5 | g.141573941T>C | CA361520117 | DIAPH1 | c.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 |
| 5 | g.141573941T>G | CA361520118 | DIAPH1 | c.1909A>C (p.Thr637Pro) c.1777A>C (p.Thr593Pro) c.1882A>C (p.Thr628Pro) c.1873A>C (p.Thr625Pro) c.1843A>C (p.Thr615Pro) | |
| 5 | g.141573942A>C | CA447088466 | DIAPH1 | c.1908T>G (p.Gly636=) c.1776T>G (p.Gly592=) c.1881T>G (p.Gly627=) c.1872T>G (p.Gly624=) c.1842T>G (p.Gly614=) | |
| 5 | g.141573942A>G | CA447088468 | DIAPH1 | c.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 |
| 5 | g.141573942A>T | CA447088469 | DIAPH1 | c.1908T>A (p.Gly636=) c.1776T>A (p.Gly592=) c.1881T>A (p.Gly627=) c.1872T>A (p.Gly624=) c.1842T>A (p.Gly614=) | |
| 5 | g.141573943C>A | CA361520119 | DIAPH1 | c.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 |
| 5 | g.141573943C= | CA1587247948 | DIAPH1 | c.1907G= (p.Gly636=) c.1775G= (p.Gly592=) c.1880G= (p.Gly627=) c.1871G= (p.Gly624=) c.1841G= (p.Gly614=) | |
| 5 | g.141573943C>G | CA361520124 | DIAPH1 | c.1907G>C (p.Gly636Ala) c.1775G>C (p.Gly592Ala) c.1880G>C (p.Gly627Ala) c.1871G>C (p.Gly624Ala) c.1841G>C (p.Gly614Ala) | |
| 5 | g.141573943C>T | CA128437229 | DIAPH1 | c.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 |
| 5 | g.141573944C>A | CA361520130 | DIAPH1 | c.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 |
| 5 | g.141573944C= | CA1587247951 | DIAPH1 | c.1906G= (p.Gly636=) c.1774G= (p.Gly592=) c.1879G= (p.Gly627=) c.1870G= (p.Gly624=) c.1840G= (p.Gly614=) | |
| 5 | g.141573944C>G | CA361520133 | DIAPH1 | c.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 |
| 5 | g.141573944C>T | CA361520137 | DIAPH1 | c.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 |
| 5 | g.141573945T>A | CA447088470 | DIAPH1 | c.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 |
| 5 | g.141573945T>C | CA447088471 | DIAPH1 | c.1905A>G (p.Gly635=) c.1773A>G (p.Gly591=) c.1878A>G (p.Gly626=) c.1869A>G (p.Gly623=) c.1839A>G (p.Gly613=) | |
| 5 | g.141573945T>G | CA447088472 | DIAPH1 | c.1905A>C (p.Gly635=) c.1773A>C (p.Gly591=) c.1878A>C (p.Gly626=) c.1869A>C (p.Gly623=) c.1839A>C (p.Gly613=) | |
| 5 | g.141573945T= | CA1587247953 | DIAPH1 | c.1905A= (p.Gly635=) c.1773A= (p.Gly591=) c.1878A= (p.Gly626=) c.1869A= (p.Gly623=) c.1839A= (p.Gly613=) | |
| 5 | g.141573946C>A | CA361520142 | DIAPH1 | c.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 |
| 5 | g.141573946C>G | CA361520143 | DIAPH1 | c.1904G>C (p.Gly635Ala) c.1772G>C (p.Gly591Ala) c.1877G>C (p.Gly626Ala) c.1868G>C (p.Gly623Ala) c.1838G>C (p.Gly613Ala) | |
| 5 | g.141573946C>T | CA361520145 | DIAPH1 | c.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 |
| 5 | g.141573947C>A | CA361520147 | DIAPH1 | c.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 |
| 5 | g.141573947C>G | CA361520150 | DIAPH1 | c.1903G>C (p.Gly635Arg) c.1771G>C (p.Gly591Arg) c.1876G>C (p.Gly626Arg) c.1867G>C (p.Gly623Arg) c.1837G>C (p.Gly613Arg) | |
| 5 | g.141573947C>T | CA361520153 | DIAPH1 | c.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 |
| 5 | g.141573948A>C | CA447088477 | DIAPH1 | c.1902T>G (p.Pro634=) c.1770T>G (p.Pro590=) c.1875T>G (p.Pro625=) c.1866T>G (p.Pro622=) c.1836T>G (p.Pro612=) | |
| 5 | g.141573948A>G | CA447088478 | DIAPH1 | c.1902T>C (p.Pro634=) c.1770T>C (p.Pro590=) c.1875T>C (p.Pro625=) c.1866T>C (p.Pro622=) c.1836T>C (p.Pro612=) | |
| 5 | g.141573948A>T | CA447088479 | DIAPH1 | c.1902T>A (p.Pro634=) c.1770T>A (p.Pro590=) c.1875T>A (p.Pro625=) c.1866T>A (p.Pro622=) c.1836T>A (p.Pro612=) | |
| 5 | g.141573949G>A | CA361520160 | DIAPH1 | c.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 |
| 5 | g.141573949G>C | CA361520164 | DIAPH1 | c.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 |
| 5 | g.141573949G= | CA1587247957 | DIAPH1 | c.1901C= (p.Pro634=) c.1769C= (p.Pro590=) c.1874C= (p.Pro625=) c.1865C= (p.Pro622=) c.1835C= (p.Pro612=) | |
| 5 | g.141573949G>T | CA361520166 | DIAPH1 | c.1901C>A (p.Pro634His) c.1769C>A (p.Pro590His) c.1874C>A (p.Pro625His) c.1865C>A (p.Pro622His) c.1835C>A (p.Pro612His) | |
| 5 | g.141573950G>A | CA3479191 | DIAPH1 | c.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 |
| 5 | g.141573950G>C | CA361520195 | DIAPH1 | c.1900C>G (p.Pro634Ala) c.1768C>G (p.Pro590Ala) c.1873C>G (p.Pro625Ala) c.1864C>G (p.Pro622Ala) c.1834C>G (p.Pro612Ala) | |
| 5 | g.141573950G= | CA1587247961 | DIAPH1 | c.1900C= (p.Pro634=) c.1768C= (p.Pro590=) c.1873C= (p.Pro625=) c.1864C= (p.Pro622=) c.1834C= (p.Pro612=) | |
| 5 | g.141573950G>T | CA361520177 | DIAPH1 | c.1900C>A (p.Pro634Thr) c.1768C>A (p.Pro590Thr) c.1873C>A (p.Pro625Thr) c.1864C>A (p.Pro622Thr) c.1834C>A (p.Pro612Thr) | |
| 5 | g.141573951T>A | CA361520200 | DIAPH1 | c.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 |
| 5 | g.141573951T>C | CA447088480 | DIAPH1 | c.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 |
| 5 | g.141573951T>G | CA361520206 | DIAPH1 | c.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 |
| 5 | g.141573952A>C | CA361520211 | DIAPH1 | c.1898T>G (p.Leu633Ter) c.1766T>G (p.Leu589Ter) c.1871T>G (p.Leu624Ter) c.1862T>G (p.Leu621Ter) c.1832T>G (p.Leu611Ter) | |
| 5 | g.141573952A>G | CA361520214 | DIAPH1 | c.1898T>C (p.Leu633Ser) c.1766T>C (p.Leu589Ser) c.1871T>C (p.Leu624Ser) c.1862T>C (p.Leu621Ser) c.1832T>C (p.Leu611Ser) | |
| 5 | g.141573952A>T | CA361520218 | DIAPH1 | c.1898T>A (p.Leu633Ter) c.1766T>A (p.Leu589Ter) c.1871T>A (p.Leu624Ter) c.1862T>A (p.Leu621Ter) c.1832T>A (p.Leu611Ter) | |
| 5 | g.141573952_141573955delinsAAAG | CA1587247964 | DIAPH1 | c.1895_1898delinsCTTT (p.Ser632=) c.1763_1766delinsCTTT (p.Ser588=) c.1868_1871delinsCTTT (p.Ser623=) c.1859_1862delinsCTTT (p.Ser620=) c.1829_1832delinsCTTT (p.Ser610=) | |
| 5 | g.141573953A>C | CA361520230 | DIAPH1 | c.1897T>G (p.Leu633Val) c.1765T>G (p.Leu589Val) c.1870T>G (p.Leu624Val) c.1861T>G (p.Leu621Val) c.1831T>G (p.Leu611Val) | |
| 5 | g.141573953A>G | CA447088483 | DIAPH1 | c.1897T>C (p.Leu633=) c.1765T>C (p.Leu589=) c.1870T>C (p.Leu624=) c.1861T>C (p.Leu621=) c.1831T>C (p.Leu611=) | |
| 5 | g.141573953A>T | CA361520233 | DIAPH1 | c.1897T>A (p.Leu633Ile) c.1765T>A (p.Leu589Ile) c.1870T>A (p.Leu624Ile) c.1861T>A (p.Leu621Ile) c.1831T>A (p.Leu611Ile) | |
| 5 | g.141573956_141573958del | CA804796879 | DIAPH1 | c.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 |
| 5 | g.141573954A>C | CA447088484 | DIAPH1 | c.1896T>G (p.Ser632=) c.1764T>G (p.Ser588=) c.1869T>G (p.Ser623=) c.1860T>G (p.Ser620=) c.1830T>G (p.Ser610=) | |
| 5 | g.141573954A>G | CA447088485 | DIAPH1 | c.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 |
| 5 | g.141573954A>T | CA447088486 | DIAPH1 | c.1896T>A (p.Ser632=) c.1764T>A (p.Ser588=) c.1869T>A (p.Ser623=) c.1860T>A (p.Ser620=) c.1830T>A (p.Ser610=) | |
| 5 | g.141573955G>A | CA361520239 | DIAPH1 | c.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 |
| 5 | g.141573955G>C | CA361520253 | DIAPH1 | c.1895C>G (p.Ser632Cys) c.1763C>G (p.Ser588Cys) c.1868C>G (p.Ser623Cys) c.1859C>G (p.Ser620Cys) c.1829C>G (p.Ser610Cys) | |
| 5 | g.141573955G>T | CA361520257 | DIAPH1 | c.1895C>A (p.Ser632Tyr) c.1763C>A (p.Ser588Tyr) c.1868C>A (p.Ser623Tyr) c.1859C>A (p.Ser620Tyr) c.1829C>A (p.Ser610Tyr) | |
| 5 | g.141573956A= | CA1587247969 | DIAPH1 | c.1894T= (p.Ser632=) c.1762T= (p.Ser588=) c.1867T= (p.Ser623=) c.1858T= (p.Ser620=) c.1828T= (p.Ser610=) | |
| 5 | g.141573956A>C | CA361520261 | DIAPH1 | c.1894T>G (p.Ser632Ala) c.1762T>G (p.Ser588Ala) c.1867T>G (p.Ser623Ala) c.1858T>G (p.Ser620Ala) c.1828T>G (p.Ser610Ala) | |
| 5 | g.141573956A>G | CA128437244 | DIAPH1 | c.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 |
| 5 | g.141573956A>T | CA361520265 | DIAPH1 | c.1894T>A (p.Ser632Thr) c.1762T>A (p.Ser588Thr) c.1867T>A (p.Ser623Thr) c.1858T>A (p.Ser620Thr) c.1828T>A (p.Ser610Thr) | |
| 5 | g.141573957A= | CA1587247976 | DIAPH1 | c.1893T= (p.Pro631=) c.1761T= (p.Pro587=) c.1866T= (p.Pro622=) c.1857T= (p.Pro619=) c.1827T= (p.Pro609=) | |
| 5 | g.141573957A>C | CA447088489 | DIAPH1 | c.1893T>G (p.Pro631=) c.1761T>G (p.Pro587=) c.1866T>G (p.Pro622=) c.1857T>G (p.Pro619=) c.1827T>G (p.Pro609=) | |
| 5 | g.141573957A>G | CA447088491 | DIAPH1 | c.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 |
| 5 | g.141573957A>T | CA447088490 | DIAPH1 | c.1893T>A (p.Pro631=) c.1761T>A (p.Pro587=) c.1866T>A (p.Pro622=) c.1857T>A (p.Pro619=) c.1827T>A (p.Pro609=) | |
| 5 | g.141573958G>A | CA361520266 | DIAPH1 | c.1892C>T (p.Pro631Leu) c.1760C>T (p.Pro587Leu) c.1865C>T (p.Pro622Leu) c.1856C>T (p.Pro619Leu) c.1826C>T (p.Pro609Leu) | |
| 5 | g.141573958G>C | CA361520270 | DIAPH1 | c.1892C>G (p.Pro631Arg) c.1760C>G (p.Pro587Arg) c.1865C>G (p.Pro622Arg) c.1856C>G (p.Pro619Arg) c.1826C>G (p.Pro609Arg) | |
| 5 | g.141573958G= | CA1587247979 | DIAPH1 | c.1892C= (p.Pro631=) c.1760C= (p.Pro587=) c.1865C= (p.Pro622=) c.1856C= (p.Pro619=) c.1826C= (p.Pro609=) | |
| 5 | g.141573958G>T | CA361520267 | DIAPH1 | c.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 |
| 5 | g.141573959G>A | CA128437249 | DIAPH1 | c.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 |
| 5 | g.141573959G>C | CA3479192 | DIAPH1 | c.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 |
| 5 | g.141573959G= | CA1587247982 | DIAPH1 | c.1891C= (p.Pro631=) c.1759C= (p.Pro587=) c.1864C= (p.Pro622=) c.1855C= (p.Pro619=) c.1825C= (p.Pro609=) | |
| 5 | g.141573959G>T | CA361520279 | DIAPH1 | c.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 |
| 5 | g.141573960G>A | CA3479193 | DIAPH1 | c.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 |
| 5 | g.141573960G>C | CA447088498 | DIAPH1 | c.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 |
| 5 | g.141573960G= | CA1587247985 | DIAPH1 | c.1890C= (p.Pro630=) c.1758C= (p.Pro586=) c.1863C= (p.Pro621=) c.1854C= (p.Pro618=) c.1824C= (p.Pro608=) | |
| 5 | g.141573960G>T | CA447088500 | DIAPH1 | c.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 |