| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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 |
| 5 | g.141573961G>A | CA361520287 | DIAPH1 | c.1889C>T (p.Pro630Leu) c.1757C>T (p.Pro586Leu) c.1862C>T (p.Pro621Leu) c.1853C>T (p.Pro618Leu) c.1823C>T (p.Pro608Leu) | |
| 5 | g.141573961G>C | CA361520290 | DIAPH1 | c.1889C>G (p.Pro630Arg) c.1757C>G (p.Pro586Arg) c.1862C>G (p.Pro621Arg) c.1853C>G (p.Pro618Arg) c.1823C>G (p.Pro608Arg) | |
| 5 | g.141573961G= | CA1587247989 | DIAPH1 | c.1889C= (p.Pro630=) c.1757C= (p.Pro586=) c.1862C= (p.Pro621=) c.1853C= (p.Pro618=) c.1823C= (p.Pro608=) | |
| 5 | g.141573961G>T | CA361520294 | DIAPH1 | c.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 |
| 5 | g.141573962G>A | CA361520298 | DIAPH1 | c.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 |
| 5 | g.141573962G>C | CA361520301 | DIAPH1 | c.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 |
| 5 | g.141573962G= | CA1587247990 | DIAPH1 | c.1888C= (p.Pro630=) c.1756C= (p.Pro586=) c.1861C= (p.Pro621=) c.1852C= (p.Pro618=) c.1822C= (p.Pro608=) | |
| 5 | g.141573962G>T | CA361520315 | DIAPH1 | c.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 |
| 5 | g.141573963T>A | CA447088506 | DIAPH1 | c.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 |
| 5 | g.141573963T>C | CA447088507 | DIAPH1 | c.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 |
| 5 | g.141573963T>G | CA447088508 | DIAPH1 | c.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 |
| 5 | g.141573963T= | CA1587247993 | DIAPH1 | c.1887A= (p.Ser629=) c.1755A= (p.Ser585=) c.1860A= (p.Ser620=) c.1851A= (p.Ser617=) c.1821A= (p.Ser607=) | |
| 5 | g.141573964G>A | CA361520325 | DIAPH1 | c.1886C>T (p.Ser629Leu) c.1754C>T (p.Ser585Leu) c.1859C>T (p.Ser620Leu) c.1850C>T (p.Ser617Leu) c.1820C>T (p.Ser607Leu) | |
| 5 | g.141573964G>C | CA361520323 | DIAPH1 | c.1886C>G (p.Ser629Ter) c.1754C>G (p.Ser585Ter) c.1859C>G (p.Ser620Ter) c.1850C>G (p.Ser617Ter) c.1820C>G (p.Ser607Ter) | |
| 5 | g.141573964G>T | CA361520319 | DIAPH1 | c.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 |
| 5 | g.141573965A>C | CA361520327 | DIAPH1 | c.1885T>G (p.Ser629Ala) c.1753T>G (p.Ser585Ala) c.1858T>G (p.Ser620Ala) c.1849T>G (p.Ser617Ala) c.1819T>G (p.Ser607Ala) | |
| 5 | g.141573965A>G | CA361520332 | DIAPH1 | c.1885T>C (p.Ser629Pro) c.1753T>C (p.Ser585Pro) c.1858T>C (p.Ser620Pro) c.1849T>C (p.Ser617Pro) c.1819T>C (p.Ser607Pro) | |
| 5 | g.141573965A>T | CA361520329 | DIAPH1 | c.1885T>A (p.Ser629Thr) c.1753T>A (p.Ser585Thr) c.1858T>A (p.Ser620Thr) c.1849T>A (p.Ser617Thr) c.1819T>A (p.Ser607Thr) | |
| 5 | g.141573966G>A | CA3479194 | DIAPH1 | c.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 |
| 5 | g.141573966G>C | CA447088514 | DIAPH1 | c.1884C>G (p.Ser628=) c.1752C>G (p.Ser584=) c.1857C>G (p.Ser619=) c.1848C>G (p.Ser616=) c.1818C>G (p.Ser606=) | |
| 5 | g.141573966G= | CA1587247996 | DIAPH1 | c.1884C= (p.Ser628=) c.1752C= (p.Ser584=) c.1857C= (p.Ser619=) c.1848C= (p.Ser616=) c.1818C= (p.Ser606=) | |
| 5 | g.141573966G>T | CA447088517 | DIAPH1 | c.1884C>A (p.Ser628=) c.1752C>A (p.Ser584=) c.1857C>A (p.Ser619=) c.1848C>A (p.Ser616=) c.1818C>A (p.Ser606=) | |
| 5 | g.141573967G>A | CA361520340 | DIAPH1 | c.1883C>T (p.Ser628Phe) c.1751C>T (p.Ser584Phe) c.1856C>T (p.Ser619Phe) c.1847C>T (p.Ser616Phe) c.1817C>T (p.Ser606Phe) | |
| 5 | g.141573967G>C | CA361520346 | DIAPH1 | c.1883C>G (p.Ser628Cys) c.1751C>G (p.Ser584Cys) c.1856C>G (p.Ser619Cys) c.1847C>G (p.Ser616Cys) c.1817C>G (p.Ser606Cys) | |
| 5 | g.141573967G>T | CA361520349 | DIAPH1 | c.1883C>A (p.Ser628Tyr) c.1751C>A (p.Ser584Tyr) c.1856C>A (p.Ser619Tyr) c.1847C>A (p.Ser616Tyr) c.1817C>A (p.Ser606Tyr) | |
| 5 | g.141573968A= | CA1587248002 | DIAPH1 | c.1882T= (p.Ser628=) c.1750T= (p.Ser584=) c.1855T= (p.Ser619=) c.1846T= (p.Ser616=) c.1816T= (p.Ser606=) | |
| 5 | g.141573968A>C | CA361520355 | DIAPH1 | c.1882T>G (p.Ser628Ala) c.1750T>G (p.Ser584Ala) c.1855T>G (p.Ser619Ala) c.1846T>G (p.Ser616Ala) c.1816T>G (p.Ser606Ala) | |
| 5 | g.141573968A>G | CA361520357 | DIAPH1 | c.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 |
| 5 | g.141573968A>T | CA361520361 | DIAPH1 | c.1882T>A (p.Ser628Thr) c.1750T>A (p.Ser584Thr) c.1855T>A (p.Ser619Thr) c.1846T>A (p.Ser616Thr) c.1816T>A (p.Ser606Thr) | |
| 5 | g.141573969G>A | CA3479195 | DIAPH1 | c.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 |
| 5 | g.141573969G>C | CA361520369 | DIAPH1 | c.1881C>G (p.Ile627Met) c.1749C>G (p.Ile583Met) c.1854C>G (p.Ile618Met) c.1845C>G (p.Ile615Met) c.1815C>G (p.Ile605Met) | |
| 5 | g.141573969G= | CA1587248005 | DIAPH1 | c.1881C= (p.Ile627=) c.1749C= (p.Ile583=) c.1854C= (p.Ile618=) c.1845C= (p.Ile615=) c.1815C= (p.Ile605=) | |
| 5 | g.141573969G>T | CA447088519 | DIAPH1 | c.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 |
| 5 | g.141573970A>C | CA361520377 | DIAPH1 | c.1880T>G (p.Ile627Ser) c.1748T>G (p.Ile583Ser) c.1853T>G (p.Ile618Ser) c.1844T>G (p.Ile615Ser) c.1814T>G (p.Ile605Ser) | |
| 5 | g.141573970A>G | CA361520381 | DIAPH1 | c.1880T>C (p.Ile627Thr) c.1748T>C (p.Ile583Thr) c.1853T>C (p.Ile618Thr) c.1844T>C (p.Ile615Thr) c.1814T>C (p.Ile605Thr) | |
| 5 | g.141573970A>T | CA361520384 | DIAPH1 | c.1880T>A (p.Ile627Asn) c.1748T>A (p.Ile583Asn) c.1853T>A (p.Ile618Asn) c.1844T>A (p.Ile615Asn) c.1814T>A (p.Ile605Asn) | |
| 5 | g.141573971T>A | CA361520388 | DIAPH1 | c.1879A>T (p.Ile627Phe) c.1747A>T (p.Ile583Phe) c.1852A>T (p.Ile618Phe) c.1843A>T (p.Ile615Phe) c.1813A>T (p.Ile605Phe) | |
| 5 | g.141573971T>C | CA361520394 | DIAPH1 | c.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 |
| 5 | g.141573971T>G | CA361520397 | DIAPH1 | c.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 |
| 5 | g.141573972G>A | CA447088528 | DIAPH1 | c.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 |
| 5 | g.141573972G>C | CA361520401 | DIAPH1 | c.1878C>G (p.Cys626Trp) c.1746C>G (p.Cys582Trp) c.1851C>G (p.Cys617Trp) c.1842C>G (p.Cys614Trp) c.1812C>G (p.Cys604Trp) | |
| 5 | g.141573972G= | CA1587248009 | DIAPH1 | c.1878C= (p.Cys626=) c.1746C= (p.Cys582=) c.1851C= (p.Cys617=) c.1842C= (p.Cys614=) c.1812C= (p.Cys604=) | |
| 5 | g.141573972G>T | CA361520405 | DIAPH1 | c.1878C>A (p.Cys626Ter) c.1746C>A (p.Cys582Ter) c.1851C>A (p.Cys617Ter) c.1842C>A (p.Cys614Ter) c.1812C>A (p.Cys604Ter) | |
| 5 | g.141573973C>A | CA361520411 | DIAPH1 | c.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 |
| 5 | g.141573973C>G | CA361520412 | DIAPH1 | c.1877G>C (p.Cys626Ser) c.1745G>C (p.Cys582Ser) c.1850G>C (p.Cys617Ser) c.1841G>C (p.Cys614Ser) c.1811G>C (p.Cys604Ser) | |
| 5 | g.141573973C>T | CA361520418 | DIAPH1 | c.1877G>A (p.Cys626Tyr) c.1745G>A (p.Cys582Tyr) c.1850G>A (p.Cys617Tyr) c.1841G>A (p.Cys614Tyr) c.1811G>A (p.Cys604Tyr) | |
| 5 | g.141573974A>C | CA361520428 | DIAPH1 | c.1876T>G (p.Cys626Gly) c.1744T>G (p.Cys582Gly) c.1849T>G (p.Cys617Gly) c.1840T>G (p.Cys614Gly) c.1810T>G (p.Cys604Gly) | |
| 5 | g.141573974A>G | CA361520431 | DIAPH1 | c.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 |
| 5 | g.141573974A>T | CA361520433 | DIAPH1 | c.1876T>A (p.Cys626Ser) c.1744T>A (p.Cys582Ser) c.1849T>A (p.Cys617Ser) c.1840T>A (p.Cys614Ser) c.1810T>A (p.Cys604Ser) | |
| 5 | g.141573975A>C | CA447088536 | DIAPH1 | c.1875T>G (p.Val625=) c.1743T>G (p.Val581=) c.1848T>G (p.Val616=) c.1839T>G (p.Val613=) c.1809T>G (p.Val603=) | |
| 5 | g.141573975A>G | CA447088532 | DIAPH1 | c.1875T>C (p.Val625=) c.1743T>C (p.Val581=) c.1848T>C (p.Val616=) c.1839T>C (p.Val613=) c.1809T>C (p.Val603=) | |
| 5 | g.141573975A>T | CA447088534 | DIAPH1 | c.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 |
| 5 | g.141573976A>C | CA361520434 | DIAPH1 | c.1874T>G (p.Val625Gly) c.1742T>G (p.Val581Gly) c.1847T>G (p.Val616Gly) c.1838T>G (p.Val613Gly) c.1808T>G (p.Val603Gly) | |
| 5 | g.141573976A>G | CA361520438 | DIAPH1 | c.1874T>C (p.Val625Ala) c.1742T>C (p.Val581Ala) c.1847T>C (p.Val616Ala) c.1838T>C (p.Val613Ala) c.1808T>C (p.Val603Ala) | |
| 5 | g.141573976A>T | CA361520440 | DIAPH1 | c.1874T>A (p.Val625Asp) c.1742T>A (p.Val581Asp) c.1847T>A (p.Val616Asp) c.1838T>A (p.Val613Asp) c.1808T>A (p.Val603Asp) | |
| 5 | g.141573977C>A | CA361520442 | DIAPH1 | c.1873G>T (p.Val625Phe) c.1741G>T (p.Val581Phe) c.1846G>T (p.Val616Phe) c.1837G>T (p.Val613Phe) c.1807G>T (p.Val603Phe) | |
| 5 | g.141573977C>G | CA361520443 | DIAPH1 | c.1873G>C (p.Val625Leu) c.1741G>C (p.Val581Leu) c.1846G>C (p.Val616Leu) c.1837G>C (p.Val613Leu) c.1807G>C (p.Val603Leu) | |
| 5 | g.141573977C>T | CA361520444 | DIAPH1 | c.1873G>A (p.Val625Ile) c.1741G>A (p.Val581Ile) c.1846G>A (p.Val616Ile) c.1837G>A (p.Val613Ile) c.1807G>A (p.Val603Ile) | |
| 5 | g.141573978A>C | CA447088540 | DIAPH1 | c.1872T>G (p.Gly624=) c.1740T>G (p.Gly580=) c.1845T>G (p.Gly615=) c.1836T>G (p.Gly612=) c.1806T>G (p.Gly602=) | |
| 5 | g.141573978A>G | CA447088542 | DIAPH1 | c.1872T>C (p.Gly624=) c.1740T>C (p.Gly580=) c.1845T>C (p.Gly615=) c.1836T>C (p.Gly612=) c.1806T>C (p.Gly602=) | |
| 5 | g.141573978A>T | CA447088544 | DIAPH1 | c.1872T>A (p.Gly624=) c.1740T>A (p.Gly580=) c.1845T>A (p.Gly615=) c.1836T>A (p.Gly612=) c.1806T>A (p.Gly602=) | |
| 5 | g.141573979C>A | CA361520445 | DIAPH1 | c.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 |
| 5 | g.141573979C= | CA1587248013 | DIAPH1 | c.1871G= (p.Gly624=) c.1739G= (p.Gly580=) c.1844G= (p.Gly615=) c.1835G= (p.Gly612=) c.1805G= (p.Gly602=) | |
| 5 | g.141573979C>G | CA361520449 | DIAPH1 | c.1871G>C (p.Gly624Ala) c.1739G>C (p.Gly580Ala) c.1844G>C (p.Gly615Ala) c.1835G>C (p.Gly612Ala) c.1805G>C (p.Gly602Ala) | |
| 5 | g.141573979C>T | CA361520446 | DIAPH1 | c.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 |
| 5 | g.141573983del | CA2675691792 | DIAPH1 | c.1871del (p.Gly624ValfsTer?) c.1739del (p.Gly580ValfsTer?) c.1844del (p.Gly615ValfsTer?) c.1835del (p.Gly612ValfsTer?) c.1805del (p.Gly602ValfsTer?) | gnomAD v4 |
| 5 | g.141573980C>A | CA361520467 | DIAPH1 | c.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 |
| 5 | g.141573980C= | CA1587248019 | DIAPH1 | c.1870G= (p.Gly624=) c.1738G= (p.Gly580=) c.1843G= (p.Gly615=) c.1834G= (p.Gly612=) c.1804G= (p.Gly602=) | |
| 5 | g.141573980C>G | CA361520470 | DIAPH1 | c.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 |
| 5 | g.141573980C>T | CA361520474 | DIAPH1 | c.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 |
| 5 | g.141573981C>A | CA447088552 | DIAPH1 | c.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 |
| 5 | g.141573981C>G | CA447088550 | DIAPH1 | c.1869G>C (p.Gly623=) c.1737G>C (p.Gly579=) c.1842G>C (p.Gly614=) c.1833G>C (p.Gly611=) c.1803G>C (p.Gly601=) | |
| 5 | g.141573981C>T | CA447088551 | DIAPH1 | c.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 |
| 5 | g.141573982C>A | CA361520478 | DIAPH1 | c.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 |
| 5 | g.141573982C>G | CA361520483 | DIAPH1 | c.1868G>C (p.Gly623Ala) c.1736G>C (p.Gly579Ala) c.1841G>C (p.Gly614Ala) c.1832G>C (p.Gly611Ala) c.1802G>C (p.Gly601Ala) | |
| 5 | g.141573982C>T | CA361520486 | DIAPH1 | c.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 |
| 5 | g.141573983C>A | CA361520491 | DIAPH1 | c.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 |
| 5 | g.141573983C>G | CA361520492 | DIAPH1 | c.1867G>C (p.Gly623Arg) c.1735G>C (p.Gly579Arg) c.1840G>C (p.Gly614Arg) c.1831G>C (p.Gly611Arg) c.1801G>C (p.Gly601Arg) | |
| 5 | g.141573983C>T | CA361520494 | DIAPH1 | c.1867G>A (p.Gly623Arg) c.1735G>A (p.Gly579Arg) c.1840G>A (p.Gly614Arg) c.1831G>A (p.Gly611Arg) c.1801G>A (p.Gly601Arg) | |
| 5 | g.141573984A>C | CA447088557 | DIAPH1 | c.1866T>G (p.Pro622=) c.1734T>G (p.Pro578=) c.1839T>G (p.Pro613=) c.1830T>G (p.Pro610=) c.1800T>G (p.Pro600=) | |
| 5 | g.141573984A>G | CA447088559 | DIAPH1 | c.1866T>C (p.Pro622=) c.1734T>C (p.Pro578=) c.1839T>C (p.Pro613=) c.1830T>C (p.Pro610=) c.1800T>C (p.Pro600=) | |
| 5 | g.141573984A>T | CA447088561 | DIAPH1 | c.1866T>A (p.Pro622=) c.1734T>A (p.Pro578=) c.1839T>A (p.Pro613=) c.1830T>A (p.Pro610=) c.1800T>A (p.Pro600=) | |
| 5 | g.141573985G>A | CA361520500 | DIAPH1 | c.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 |
| 5 | g.141573985G>C | CA361520508 | DIAPH1 | c.1865C>G (p.Pro622Arg) c.1733C>G (p.Pro578Arg) c.1838C>G (p.Pro613Arg) c.1829C>G (p.Pro610Arg) c.1799C>G (p.Pro600Arg) | |
| 5 | g.141573985G= | CA1587248022 | DIAPH1 | c.1865C= (p.Pro622=) c.1733C= (p.Pro578=) c.1838C= (p.Pro613=) c.1829C= (p.Pro610=) c.1799C= (p.Pro600=) | |
| 5 | g.141573985G>T | CA361520511 | DIAPH1 | c.1865C>A (p.Pro622His) c.1733C>A (p.Pro578His) c.1838C>A (p.Pro613His) c.1829C>A (p.Pro610His) c.1799C>A (p.Pro600His) | |
| 5 | g.141573986G>A | CA361520521 | DIAPH1 | c.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 |
| 5 | g.141573986G>C | CA361520515 | DIAPH1 | c.1864C>G (p.Pro622Ala) c.1732C>G (p.Pro578Ala) c.1837C>G (p.Pro613Ala) c.1828C>G (p.Pro610Ala) c.1798C>G (p.Pro600Ala) | |
| 5 | g.141573986G>T | CA361520519 | DIAPH1 | c.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 |
| 5 | g.141573987C>A | CA361520523 | DIAPH1 | c.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 |
| 5 | g.141573987C= | CA1587248026 | DIAPH1 | c.1863G= (p.Leu621=) c.1731G= (p.Leu577=) c.1836G= (p.Leu612=) c.1827G= (p.Leu609=) c.1797G= (p.Leu599=) | |
| 5 | g.141573987C>G | CA361520526 | DIAPH1 | c.1863G>C (p.Leu621Phe) c.1731G>C (p.Leu577Phe) c.1836G>C (p.Leu612Phe) c.1827G>C (p.Leu609Phe) c.1797G>C (p.Leu599Phe) | |
| 5 | g.141573987C>T | CA447088564 | DIAPH1 | c.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 |
| 5 | g.141573987_141574002delinsCAAAGGAGGTGGAGGA | CA1587248024 | DIAPH1 | c.1848_1863delinsTCCTCCACCTCCTTTG (p.Pro616=) c.1716_1731delinsTCCTCCACCTCCTTTG (p.Pro572=) c.1821_1836delinsTCCTCCACCTCCTTTG (p.Pro607=) c.1812_1827delinsTCCTCCACCTCCTTTG (p.Pro604=) c.1782_1797delinsTCCTCCACCTCCTTTG (p.Pro594=) | |
| 5 | g.141573988A>C | CA361520530 | DIAPH1 | c.1862T>G (p.Leu621Trp) c.1730T>G (p.Leu577Trp) c.1835T>G (p.Leu612Trp) c.1826T>G (p.Leu609Trp) c.1796T>G (p.Leu599Trp) | |
| 5 | g.141573988A>G | CA361520531 | DIAPH1 | c.1862T>C (p.Leu621Ser) c.1730T>C (p.Leu577Ser) c.1835T>C (p.Leu612Ser) c.1826T>C (p.Leu609Ser) c.1796T>C (p.Leu599Ser) | |
| 5 | g.141573988A>T | CA361520532 | DIAPH1 | c.1862T>A (p.Leu621Ter) c.1730T>A (p.Leu577Ter) c.1835T>A (p.Leu612Ter) c.1826T>A (p.Leu609Ter) c.1796T>A (p.Leu599Ter) | |
| 5 | g.141573988_141574002del | CA891842528 | DIAPH1 | c.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 |
| 5 | g.141573989A= | CA1587248041 | DIAPH1 | c.1861T= (p.Leu621=) c.1729T= (p.Leu577=) c.1834T= (p.Leu612=) c.1825T= (p.Leu609=) c.1795T= (p.Leu599=) | |
| 5 | g.141573989A>C | CA128437260 | DIAPH1 | c.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 |
| 5 | g.141573989A>G | CA447088570 | DIAPH1 | c.1861T>C (p.Leu621=) c.1729T>C (p.Leu577=) c.1834T>C (p.Leu612=) c.1825T>C (p.Leu609=) c.1795T>C (p.Leu599=) | |
| 5 | g.141573989A>T | CA361520534 | DIAPH1 | c.1861T>A (p.Leu621Met) c.1729T>A (p.Leu577Met) c.1834T>A (p.Leu612Met) c.1825T>A (p.Leu609Met) c.1795T>A (p.Leu599Met) | |
| 5 | g.141573990A= | CA1587248055 | DIAPH1 | c.1860T= (p.Pro620=) c.1728T= (p.Pro576=) c.1833T= (p.Pro611=) c.1824T= (p.Pro608=) c.1794T= (p.Pro598=) | |
| 5 | g.141573990A>C | CA447088572 | DIAPH1 | c.1860T>G (p.Pro620=) c.1728T>G (p.Pro576=) c.1833T>G (p.Pro611=) c.1824T>G (p.Pro608=) c.1794T>G (p.Pro598=) | |
| 5 | g.141573990A>G | CA447088573 | DIAPH1 | c.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 |
| 5 | g.141573990A>T | CA447088574 | DIAPH1 | c.1860T>A (p.Pro620=) c.1728T>A (p.Pro576=) c.1833T>A (p.Pro611=) c.1824T>A (p.Pro608=) c.1794T>A (p.Pro598=) | |
| 5 | g.141573993_141573995dup | CA563502797 | DIAPH1 | c.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 |
| 5 | g.141573993_141573995del | CA2578432700 | DIAPH1 | c.1858_1860del (p.Pro620del) c.1726_1728del (p.Pro576del) c.1831_1833del (p.Pro611del) c.1822_1824del (p.Pro608del) c.1792_1794del (p.Pro598del) | |
| 5 | g.141573996_141574004dup | CA563502796 | DIAPH1 | c.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 |
| 5 | g.141573996_141574007dup | CA2675691812 | DIAPH1 | c.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 |
| 5 | g.141573996_141574013del | CA2675691811 | DIAPH1 | c.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 |
| 5 | g.141573996_141574016dup | CA2675691813 | DIAPH1 | c.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 |
| 5 | g.141573991G>A | CA128437263 | DIAPH1 | c.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 |
| 5 | g.141573991G>C | CA361520547 | DIAPH1 | c.1859C>G (p.Pro620Arg) c.1727C>G (p.Pro576Arg) c.1832C>G (p.Pro611Arg) c.1823C>G (p.Pro608Arg) c.1793C>G (p.Pro598Arg) | |
| 5 | g.141573991G= | CA1587248069 | DIAPH1 | c.1859C= (p.Pro620=) c.1727C= (p.Pro576=) c.1832C= (p.Pro611=) c.1823C= (p.Pro608=) c.1793C= (p.Pro598=) | |
| 5 | g.141573991G>T | CA3479197 | DIAPH1 | c.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 |
| 5 | g.141573995_141573996insGGGAGG | CA1082278911 | DIAPH1 | c.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 |
| 5 | g.141573996_141574001dup | CA3479196 | DIAPH1 | c.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 |
| 5 | g.141573992G>A | CA361520564 | DIAPH1 | c.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 |
| 5 | g.141573992G>C | CA361520563 | DIAPH1 | c.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 |
| 5 | g.141573992G= | CA1587248076 | DIAPH1 | c.1858C= (p.Pro620=) c.1726C= (p.Pro576=) c.1831C= (p.Pro611=) c.1822C= (p.Pro608=) c.1792C= (p.Pro598=) | |
| 5 | g.141573992G>T | CA361520562 | DIAPH1 | c.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 |
| 5 | g.141573993A= | CA1587248079 | DIAPH1 | c.1857T= (p.Pro619=) c.1725T= (p.Pro575=) c.1830T= (p.Pro610=) c.1821T= (p.Pro607=) c.1791T= (p.Pro597=) | |
| 5 | g.141573993A>C | CA447088577 | DIAPH1 | c.1857T>G (p.Pro619=) c.1725T>G (p.Pro575=) c.1830T>G (p.Pro610=) c.1821T>G (p.Pro607=) c.1791T>G (p.Pro597=) | |
| 5 | g.141573993A>G | CA447088578 | DIAPH1 | c.1857T>C (p.Pro619=) c.1725T>C (p.Pro575=) c.1830T>C (p.Pro610=) c.1821T>C (p.Pro607=) c.1791T>C (p.Pro597=) | |
| 5 | g.141573993A>T | CA447088579 | DIAPH1 | c.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 |
| 5 | g.141573994G>A | CA361520570 | DIAPH1 | c.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 |
| 5 | g.141573994G>C | CA361520567 | DIAPH1 | c.1856C>G (p.Pro619Arg) c.1724C>G (p.Pro575Arg) c.1829C>G (p.Pro610Arg) c.1820C>G (p.Pro607Arg) c.1790C>G (p.Pro597Arg) | |
| 5 | g.141573994G>T | CA361520571 | DIAPH1 | c.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 |
| 5 | g.141573995_141573996insGGG | CA1082278915 | DIAPH1 | c.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 |
| 5 | g.141573996_141573998dup | CA1587248082 | DIAPH1 | c.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 |
| 5 | g.141573996_141573998del | CA645558436 | DIAPH1 | c.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 |
| 5 | g.141573995G>A | CA361520572 | DIAPH1 | c.1855C>T (p.Pro619Ser) c.1723C>T (p.Pro575Ser) c.1828C>T (p.Pro610Ser) c.1819C>T (p.Pro607Ser) c.1789C>T (p.Pro597Ser) | |
| 5 | g.141573995G>C | CA361520573 | DIAPH1 | c.1855C>G (p.Pro619Ala) c.1723C>G (p.Pro575Ala) c.1828C>G (p.Pro610Ala) c.1819C>G (p.Pro607Ala) c.1789C>G (p.Pro597Ala) | |
| 5 | g.141573995G>T | CA361520575 | DIAPH1 | c.1855C>A (p.Pro619Thr) c.1723C>A (p.Pro575Thr) c.1828C>A (p.Pro610Thr) c.1819C>A (p.Pro607Thr) c.1789C>A (p.Pro597Thr) | |
| 5 | g.141573996del | CA1082278920 | DIAPH1 | c.1854del (p.Pro619LeufsTer?) c.1722del (p.Pro575LeufsTer?) c.1827del (p.Pro610LeufsTer?) c.1818del (p.Pro607LeufsTer?) c.1788del (p.Pro597LeufsTer?) | gnomAD v3 gnomAD v4 |
| 5 | g.141573996T>A | CA128437265 | DIAPH1 | c.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 |
| 5 | g.141573996T>C | CA447088585 | DIAPH1 | c.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 |
| 5 | g.141573996T>G | CA447088586 | DIAPH1 | c.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 |
| 5 | g.141573996T= | CA1587248089 | DIAPH1 | c.1854A= (p.Pro618=) c.1722A= (p.Pro574=) c.1827A= (p.Pro609=) c.1818A= (p.Pro606=) c.1788A= (p.Pro596=) | |
| 5 | g.141573996_141573999delinsTGGA | CA2695196635 | DIAPH1 | c.1851_1854delinsTCCA (p.Pro617=) c.1719_1722delinsTCCA (p.Pro573=) c.1824_1827delinsTCCA (p.Pro608=) c.1815_1818delinsTCCA (p.Pro605=) c.1785_1788delinsTCCA (p.Pro595=) | |
| 5 | g.141573996_141574017delinsTGGAGGAGGAGGAGGAGGAGGA | CA1587248090 | DIAPH1 | c.1833_1854delinsTCCTCCTCCTCCTCCTCCTCCA (p.Pro611=) c.1701_1722delinsTCCTCCTCCTCCTCCTCCTCCA (p.Pro567=) c.1806_1827delinsTCCTCCTCCTCCTCCTCCTCCA (p.Pro602=) c.1797_1818delinsTCCTCCTCCTCCTCCTCCTCCA (p.Pro599=) c.1767_1788delinsTCCTCCTCCTCCTCCTCCTCCA (p.Pro589=) | |
| 5 | g.141573997G>A | CA361520618 | DIAPH1 | c.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 |
| 5 | g.141573997G>C | CA361520617 | DIAPH1 | c.1853C>G (p.Pro618Arg) c.1721C>G (p.Pro574Arg) c.1826C>G (p.Pro609Arg) c.1817C>G (p.Pro606Arg) c.1787C>G (p.Pro596Arg) | |
| 5 | g.141573997G= | CA1587248136 | DIAPH1 | c.1853C= (p.Pro618=) c.1721C= (p.Pro574=) c.1826C= (p.Pro609=) c.1817C= (p.Pro606=) c.1787C= (p.Pro596=) | |
| 5 | g.141573997G>T | CA361520625 | DIAPH1 | c.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 |
| 5 | g.141573997_141573998insAG | CA2675691845 | DIAPH1 | c.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 |
| 5 | g.141573998_141573999insTGGAGG | CA2578432701 | DIAPH1 | c.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) | |
| 5 | g.141573997_141573999delinsGGA | CA1587248127 | DIAPH1 | c.1851_1853delinsTCC (p.Pro617=) c.1719_1721delinsTCC (p.Pro573=) c.1824_1826delinsTCC (p.Pro608=) c.1815_1817delinsTCC (p.Pro605=) c.1785_1787delinsTCC (p.Pro595=) | |
| 5 | g.141574007_141574008insTGGAGGAGGAGGAGGAGG | CA2675691844 | DIAPH1 | c.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 |
| 5 | g.141574028_141574030dup | CA201274 | DIAPH1 | c.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 |
| 5 | g.141574025_141574030dup | CA3479198 | DIAPH1 | c.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 |
| 5 | g.141574022_141574030dup | CA563502799 | DIAPH1 | c.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 |
| 5 | g.141574019_141574030dup | CA913108378 | DIAPH1 | c.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 |
| 5 | g.141574016_141574030dup | CA563502798 | DIAPH1 | c.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 |
| 5 | g.141574013_141574030dup | CA1587248140 | DIAPH1 | c.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 |
| 5 | g.141574010_141574030dup | CA1082278968 | DIAPH1 | c.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 |
| 5 | g.141574007_141574030dup | CA2675691843 | DIAPH1 | c.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 |
| 5 | g.141574028_141574030del | CA3479199 | DIAPH1 | c.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 |
| 5 | g.141574025_141574030del | CA3479200 | DIAPH1 | c.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 |
| 5 | g.141574022_141574030del | CA128437269 | DIAPH1 | c.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 |
| 5 | g.141574019_141574030del | CA3479201 | DIAPH1 | c.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 |
| 5 | g.141574016_141574030del | CA3479202 | DIAPH1 | c.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 |
| 5 | g.141574013_141574030del | CA804796992 | DIAPH1 | c.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 |
| 5 | g.141574010_141574030del | CA804796990 | DIAPH1 | c.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 |
| 5 | g.141574007_141574030del | CA2675691841 | DIAPH1 | c.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 |
| 5 | g.141573998G>A | CA3479203 | DIAPH1 | c.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 |
| 5 | g.141573998G>C | CA361520629 | DIAPH1 | c.1852C>G (p.Pro618Ala) c.1720C>G (p.Pro574Ala) c.1825C>G (p.Pro609Ala) c.1816C>G (p.Pro606Ala) c.1786C>G (p.Pro596Ala) | |
| 5 | g.141573998G= | CA1587248174 | DIAPH1 | c.1852C= (p.Pro618=) c.1720C= (p.Pro574=) c.1825C= (p.Pro609=) c.1816C= (p.Pro606=) c.1786C= (p.Pro596=) | |
| 5 | g.141573998G>T | CA361520630 | DIAPH1 | c.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 |
| 5 | g.141573999_141574000del | CA563502800 | DIAPH1 | c.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 |
| 5 | g.141574002_141574003insAGAGGA | CA1139771539 | DIAPH1 | c.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) | |
| 5 | g.141573999A= | CA1587248181 | DIAPH1 | c.1851T= (p.Pro617=) c.1719T= (p.Pro573=) c.1824T= (p.Pro608=) c.1815T= (p.Pro605=) c.1785T= (p.Pro595=) | |
| 5 | g.141573999A>C | CA447088612 | DIAPH1 | c.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 |
| 5 | g.141573999A>G | CA447088611 | DIAPH1 | c.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 |
| 5 | g.141573999A>T | CA447088613 | DIAPH1 | c.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 |
| 5 | g.141574000G>A | CA361520644 | DIAPH1 | c.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 |
| 5 | g.141574000G>C | CA361520631 | DIAPH1 | c.1850C>G (p.Pro617Arg) c.1718C>G (p.Pro573Arg) c.1823C>G (p.Pro608Arg) c.1814C>G (p.Pro605Arg) c.1784C>G (p.Pro595Arg) | |
| 5 | g.141574000G= | CA1587248187 | DIAPH1 | c.1850C= (p.Pro617=) c.1718C= (p.Pro573=) c.1823C= (p.Pro608=) c.1814C= (p.Pro605=) c.1784C= (p.Pro595=) | |
| 5 | g.141574000G>T | CA361520641 | DIAPH1 | c.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 |
| 5 | g.141574001_141574002insTGG | CA563502801 | DIAPH1 | c.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 |
| 5 | g.141574004_141574005insTGGAGG | CA2578432702 | DIAPH1 | c.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 |
| 5 | g.141574001G>A | CA128437295 | DIAPH1 | c.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 |
| 5 | g.141574001G>C | CA361520656 | DIAPH1 | c.1849C>G (p.Pro617Ala) c.1717C>G (p.Pro573Ala) c.1822C>G (p.Pro608Ala) c.1813C>G (p.Pro605Ala) c.1783C>G (p.Pro595Ala) | |
| 5 | g.141574001G= | CA1587248191 | DIAPH1 | c.1849C= (p.Pro617=) c.1717C= (p.Pro573=) c.1822C= (p.Pro608=) c.1813C= (p.Pro605=) c.1783C= (p.Pro595=) | |
| 5 | g.141574001G>T | CA361520659 | DIAPH1 | c.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 |
| 5 | g.141574002A= | CA1587248196 | DIAPH1 | c.1848T= (p.Pro616=) c.1716T= (p.Pro572=) c.1821T= (p.Pro607=) c.1812T= (p.Pro604=) c.1782T= (p.Pro594=) | |
| 5 | g.141574002A>C | CA447088619 | DIAPH1 | c.1848T>G (p.Pro616=) c.1716T>G (p.Pro572=) c.1821T>G (p.Pro607=) c.1812T>G (p.Pro604=) c.1782T>G (p.Pro594=) | |
| 5 | g.141574002A>G | CA447088617 | DIAPH1 | c.1848T>C (p.Pro616=) c.1716T>C (p.Pro572=) c.1821T>C (p.Pro607=) c.1812T>C (p.Pro604=) c.1782T>C (p.Pro594=) | |
| 5 | g.141574002A>T | CA447088616 | DIAPH1 | c.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 |
| 5 | g.141574003G>A | CA361520664 | DIAPH1 | c.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 |
| 5 | g.141574003G>C | CA361520667 | DIAPH1 | c.1847C>G (p.Pro616Arg) c.1715C>G (p.Pro572Arg) c.1820C>G (p.Pro607Arg) c.1811C>G (p.Pro604Arg) c.1781C>G (p.Pro594Arg) | |
| 5 | g.141574003G= | CA1587248199 | DIAPH1 | c.1847C= (p.Pro616=) c.1715C= (p.Pro572=) c.1820C= (p.Pro607=) c.1811C= (p.Pro604=) c.1781C= (p.Pro594=) | |
| 5 | g.141574003G>T | CA361520672 | DIAPH1 | c.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 |
| 5 | g.141574004G>A | CA361520683 | DIAPH1 | c.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 |
| 5 | g.141574004G>C | CA361520687 | DIAPH1 | c.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 |
| 5 | g.141574004G= | CA1587248201 | DIAPH1 | c.1846C= (p.Pro616=) c.1714C= (p.Pro572=) c.1819C= (p.Pro607=) c.1810C= (p.Pro604=) c.1780C= (p.Pro594=) | |
| 5 | g.141574004G>T | CA361520680 | DIAPH1 | c.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 |
| 5 | g.141574005A= | CA1587248205 | DIAPH1 | c.1845T= (p.Pro615=) c.1713T= (p.Pro571=) c.1818T= (p.Pro606=) c.1809T= (p.Pro603=) c.1779T= (p.Pro593=) | |
| 5 | g.141574005A>C | CA447088626 | DIAPH1 | c.1845T>G (p.Pro615=) c.1713T>G (p.Pro571=) c.1818T>G (p.Pro606=) c.1809T>G (p.Pro603=) c.1779T>G (p.Pro593=) | |
| 5 | g.141574005A>G | CA447088624 | DIAPH1 | c.1845T>C (p.Pro615=) c.1713T>C (p.Pro571=) c.1818T>C (p.Pro606=) c.1809T>C (p.Pro603=) c.1779T>C (p.Pro593=) | |
| 5 | g.141574005A>T | CA447088625 | DIAPH1 | c.1845T>A (p.Pro615=) c.1713T>A (p.Pro571=) c.1818T>A (p.Pro606=) c.1809T>A (p.Pro603=) c.1779T>A (p.Pro593=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574006G>A | CA128437304 | DIAPH1 | c.1844C>T (p.Pro615Leu) c.1712C>T (p.Pro571Leu) c.1817C>T (p.Pro606Leu) c.1808C>T (p.Pro603Leu) c.1778C>T (p.Pro593Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574006G>C | CA361520693 | DIAPH1 | c.1844C>G (p.Pro615Arg) c.1712C>G (p.Pro571Arg) c.1817C>G (p.Pro606Arg) c.1808C>G (p.Pro603Arg) c.1778C>G (p.Pro593Arg) | gnomAD v4 |
| 5 | g.141574006G= | CA1587248209 | DIAPH1 | c.1844C= (p.Pro615=) c.1712C= (p.Pro571=) c.1817C= (p.Pro606=) c.1808C= (p.Pro603=) c.1778C= (p.Pro593=) | |
| 5 | g.141574006G>T | CA361520697 | DIAPH1 | c.1844C>A (p.Pro615His) c.1712C>A (p.Pro571His) c.1817C>A (p.Pro606His) c.1808C>A (p.Pro603His) c.1778C>A (p.Pro593His) | gnomAD v4 |
| 5 | g.141574007G>A | CA3479204 | DIAPH1 | c.1843C>T (p.Pro615Ser) c.1711C>T (p.Pro571Ser) c.1816C>T (p.Pro606Ser) c.1807C>T (p.Pro603Ser) c.1777C>T (p.Pro593Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574007G>C | CA361520707 | DIAPH1 | c.1843C>G (p.Pro615Ala) c.1711C>G (p.Pro571Ala) c.1816C>G (p.Pro606Ala) c.1807C>G (p.Pro603Ala) c.1777C>G (p.Pro593Ala) | |
| 5 | g.141574007G= | CA1587248214 | DIAPH1 | c.1843C= (p.Pro615=) c.1711C= (p.Pro571=) c.1816C= (p.Pro606=) c.1807C= (p.Pro603=) c.1777C= (p.Pro593=) | |
| 5 | g.141574007G>T | CA361520711 | DIAPH1 | c.1843C>A (p.Pro615Thr) c.1711C>A (p.Pro571Thr) c.1816C>A (p.Pro606Thr) c.1807C>A (p.Pro603Thr) c.1777C>A (p.Pro593Thr) | |
| 5 | g.141574008A= | CA1587248220 | DIAPH1 | c.1842T= (p.Pro614=) c.1710T= (p.Pro570=) c.1815T= (p.Pro605=) c.1806T= (p.Pro602=) c.1776T= (p.Pro592=) | |
| 5 | g.141574008A>C | CA128437316 | DIAPH1 | c.1842T>G (p.Pro614=) c.1710T>G (p.Pro570=) c.1815T>G (p.Pro605=) c.1806T>G (p.Pro602=) c.1776T>G (p.Pro592=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574008A>G | CA447088630 | DIAPH1 | c.1842T>C (p.Pro614=) c.1710T>C (p.Pro570=) c.1815T>C (p.Pro605=) c.1806T>C (p.Pro602=) c.1776T>C (p.Pro592=) | |
| 5 | g.141574008A>T | CA128437320 | DIAPH1 | c.1842T>A (p.Pro614=) c.1710T>A (p.Pro570=) c.1815T>A (p.Pro605=) c.1806T>A (p.Pro602=) c.1776T>A (p.Pro592=) | dbSNP gnomAD v4 |
| 5 | g.141574009G>A | CA361520723 | DIAPH1 | c.1841C>T (p.Pro614Leu) c.1709C>T (p.Pro570Leu) c.1814C>T (p.Pro605Leu) c.1805C>T (p.Pro602Leu) c.1775C>T (p.Pro592Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574009G>C | CA361520731 | DIAPH1 | c.1841C>G (p.Pro614Arg) c.1709C>G (p.Pro570Arg) c.1814C>G (p.Pro605Arg) c.1805C>G (p.Pro602Arg) c.1775C>G (p.Pro592Arg) | gnomAD v4 |
| 5 | g.141574009G= | CA1587248222 | DIAPH1 | c.1841C= (p.Pro614=) c.1709C= (p.Pro570=) c.1814C= (p.Pro605=) c.1805C= (p.Pro602=) c.1775C= (p.Pro592=) | |
| 5 | g.141574009G>T | CA361520727 | DIAPH1 | c.1841C>A (p.Pro614His) c.1709C>A (p.Pro570His) c.1814C>A (p.Pro605His) c.1805C>A (p.Pro602His) c.1775C>A (p.Pro592His) | gnomAD v4 |
| 5 | g.141574010G>A | CA361520739 | DIAPH1 | c.1840C>T (p.Pro614Ser) c.1708C>T (p.Pro570Ser) c.1813C>T (p.Pro605Ser) c.1804C>T (p.Pro602Ser) c.1774C>T (p.Pro592Ser) | |
| 5 | g.141574010G>C | CA361520741 | DIAPH1 | c.1840C>G (p.Pro614Ala) c.1708C>G (p.Pro570Ala) c.1813C>G (p.Pro605Ala) c.1804C>G (p.Pro602Ala) c.1774C>G (p.Pro592Ala) | |
| 5 | g.141574010G>T | CA361520745 | DIAPH1 | c.1840C>A (p.Pro614Thr) c.1708C>A (p.Pro570Thr) c.1813C>A (p.Pro605Thr) c.1804C>A (p.Pro602Thr) c.1774C>A (p.Pro592Thr) | |
| 5 | g.141574011A= | CA1587248224 | DIAPH1 | c.1839T= (p.Pro613=) c.1707T= (p.Pro569=) c.1812T= (p.Pro604=) c.1803T= (p.Pro601=) c.1773T= (p.Pro591=) | |
| 5 | g.141574011A>C | CA447088638 | DIAPH1 | c.1839T>G (p.Pro613=) c.1707T>G (p.Pro569=) c.1812T>G (p.Pro604=) c.1803T>G (p.Pro601=) c.1773T>G (p.Pro591=) | |
| 5 | g.141574011A>G | CA447088637 | DIAPH1 | c.1839T>C (p.Pro613=) c.1707T>C (p.Pro569=) c.1812T>C (p.Pro604=) c.1803T>C (p.Pro601=) c.1773T>C (p.Pro591=) | |
| 5 | g.141574011A>T | CA128437340 | DIAPH1 | c.1839T>A (p.Pro613=) c.1707T>A (p.Pro569=) c.1812T>A (p.Pro604=) c.1803T>A (p.Pro601=) c.1773T>A (p.Pro591=) | dbSNP gnomAD v4 |
| 5 | g.141574012G>A | CA361520751 | DIAPH1 | c.1838C>T (p.Pro613Leu) c.1706C>T (p.Pro569Leu) c.1811C>T (p.Pro604Leu) c.1802C>T (p.Pro601Leu) c.1772C>T (p.Pro591Leu) | ClinVar dbSNP |
| 5 | g.141574012G>C | CA3479205 | DIAPH1 | c.1838C>G (p.Pro613Arg) c.1706C>G (p.Pro569Arg) c.1811C>G (p.Pro604Arg) c.1802C>G (p.Pro601Arg) c.1772C>G (p.Pro591Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.141574012G= | CA1587248240 | DIAPH1 | c.1838C= (p.Pro613=) c.1706C= (p.Pro569=) c.1811C= (p.Pro604=) c.1802C= (p.Pro601=) c.1772C= (p.Pro591=) | |
| 5 | g.141574012G>T | CA361520756 | DIAPH1 | c.1838C>A (p.Pro613His) c.1706C>A (p.Pro569His) c.1811C>A (p.Pro604His) c.1802C>A (p.Pro601His) c.1772C>A (p.Pro591His) | |
| 5 | g.141574013dup | CA2499217699 | DIAPH1 | c.1838dup (p.Pro614SerfsTer?) c.1706dup (p.Pro570SerfsTer?) c.1811dup (p.Pro605SerfsTer?) c.1802dup (p.Pro602SerfsTer?) c.1772dup (p.Pro592SerfsTer?) | ClinVar dbSNP |
| 5 | g.141574013G>A | CA361520763 | DIAPH1 | c.1837C>T (p.Pro613Ser) c.1705C>T (p.Pro569Ser) c.1810C>T (p.Pro604Ser) c.1801C>T (p.Pro601Ser) c.1771C>T (p.Pro591Ser) | dbSNP |
| 5 | g.141574013G>C | CA361520765 | DIAPH1 | c.1837C>G (p.Pro613Ala) c.1705C>G (p.Pro569Ala) c.1810C>G (p.Pro604Ala) c.1801C>G (p.Pro601Ala) c.1771C>G (p.Pro591Ala) | gnomAD v4 |
| 5 | g.141574013G= | CA1587248242 | DIAPH1 | c.1837C= (p.Pro613=) c.1705C= (p.Pro569=) c.1810C= (p.Pro604=) c.1801C= (p.Pro601=) c.1771C= (p.Pro591=) | |
| 5 | g.141574013G>T | CA361520768 | DIAPH1 | c.1837C>A (p.Pro613Thr) c.1705C>A (p.Pro569Thr) c.1810C>A (p.Pro604Thr) c.1801C>A (p.Pro601Thr) c.1771C>A (p.Pro591Thr) | gnomAD v4 |
| 5 | g.141574014A= | CA1587248245 | DIAPH1 | c.1836T= (p.Pro612=) c.1704T= (p.Pro568=) c.1809T= (p.Pro603=) c.1800T= (p.Pro600=) c.1770T= (p.Pro590=) | |
| 5 | g.141574014A>C | CA447088644 | DIAPH1 | c.1836T>G (p.Pro612=) c.1704T>G (p.Pro568=) c.1809T>G (p.Pro603=) c.1800T>G (p.Pro600=) c.1770T>G (p.Pro590=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574014A>G | CA447088642 | DIAPH1 | c.1836T>C (p.Pro612=) c.1704T>C (p.Pro568=) c.1809T>C (p.Pro603=) c.1800T>C (p.Pro600=) c.1770T>C (p.Pro590=) | |
| 5 | g.141574014A>T | CA128437346 | DIAPH1 | c.1836T>A (p.Pro612=) c.1704T>A (p.Pro568=) c.1809T>A (p.Pro603=) c.1800T>A (p.Pro600=) c.1770T>A (p.Pro590=) | dbSNP gnomAD v4 |
| 5 | g.141574018_141574019insAAGGAG | CA2580072997 | DIAPH1 | c.1836_1837insTCTCCT (p.Pro612_Pro613insSerPro) c.1704_1705insTCTCCT (p.Pro568_Pro569insSerPro) c.1809_1810insTCTCCT (p.Pro603_Pro604insSerPro) c.1800_1801insTCTCCT (p.Pro600_Pro601insSerPro) c.1770_1771insTCTCCT (p.Pro590_Pro591insSerPro) | ClinVar |
| 5 | g.141574015G>A | CA361520775 | DIAPH1 | c.1835C>T (p.Pro612Leu) c.1703C>T (p.Pro568Leu) c.1808C>T (p.Pro603Leu) c.1799C>T (p.Pro600Leu) c.1769C>T (p.Pro590Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574015G>C | CA361520777 | DIAPH1 | c.1835C>G (p.Pro612Arg) c.1703C>G (p.Pro568Arg) c.1808C>G (p.Pro603Arg) c.1799C>G (p.Pro600Arg) c.1769C>G (p.Pro590Arg) | |
| 5 | g.141574015G= | CA1587248251 | DIAPH1 | c.1835C= (p.Pro612=) c.1703C= (p.Pro568=) c.1808C= (p.Pro603=) c.1799C= (p.Pro600=) c.1769C= (p.Pro590=) | |
| 5 | g.141574015G>T | CA361520781 | DIAPH1 | c.1835C>A (p.Pro612His) c.1703C>A (p.Pro568His) c.1808C>A (p.Pro603His) c.1799C>A (p.Pro600His) c.1769C>A (p.Pro590His) | |
| 5 | g.141574016del | CA2675691847 | DIAPH1 | c.1835del (p.Pro612LeufsTer?) c.1703del (p.Pro568LeufsTer?) c.1808del (p.Pro603LeufsTer?) c.1799del (p.Pro600LeufsTer?) c.1769del (p.Pro590LeufsTer?) | gnomAD v4 |
| 5 | g.141574019_141574020insCGGAGG | CA2578432703 | DIAPH1 | c.1835_1836insGCCTCC (p.Pro612_Pro613insProPro) c.1703_1704insGCCTCC (p.Pro568_Pro569insProPro) c.1808_1809insGCCTCC (p.Pro603_Pro604insProPro) c.1799_1800insGCCTCC (p.Pro600_Pro601insProPro) c.1769_1770insGCCTCC (p.Pro590_Pro591insProPro) | |
| 5 | g.141574016G>A | CA361520782 | DIAPH1 | c.1834C>T (p.Pro612Ser) c.1702C>T (p.Pro568Ser) c.1807C>T (p.Pro603Ser) c.1798C>T (p.Pro600Ser) c.1768C>T (p.Pro590Ser) | |
| 5 | g.141574016G>C | CA3479206 | DIAPH1 | c.1834C>G (p.Pro612Ala) c.1702C>G (p.Pro568Ala) c.1807C>G (p.Pro603Ala) c.1798C>G (p.Pro600Ala) c.1768C>G (p.Pro590Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.141574016G= | CA1587248254 | DIAPH1 | c.1834C= (p.Pro612=) c.1702C= (p.Pro568=) c.1807C= (p.Pro603=) c.1798C= (p.Pro600=) c.1768C= (p.Pro590=) | |
| 5 | g.141574016G>T | CA361520783 | DIAPH1 | c.1834C>A (p.Pro612Thr) c.1702C>A (p.Pro568Thr) c.1807C>A (p.Pro603Thr) c.1798C>A (p.Pro600Thr) c.1768C>A (p.Pro590Thr) | |
| 5 | g.141574017A>C | CA447088647 | DIAPH1 | c.1833T>G (p.Pro611=) c.1701T>G (p.Pro567=) c.1806T>G (p.Pro602=) c.1797T>G (p.Pro599=) c.1767T>G (p.Pro589=) | |
| 5 | g.141574017A>G | CA447088648 | DIAPH1 | c.1833T>C (p.Pro611=) c.1701T>C (p.Pro567=) c.1806T>C (p.Pro602=) c.1797T>C (p.Pro599=) c.1767T>C (p.Pro589=) | |
| 5 | g.141574017A>T | CA447088649 | DIAPH1 | c.1833T>A (p.Pro611=) c.1701T>A (p.Pro567=) c.1806T>A (p.Pro602=) c.1797T>A (p.Pro599=) c.1767T>A (p.Pro589=) | gnomAD v4 |
| 5 | g.141574018G>A | CA361520789 | DIAPH1 | c.1832C>T (p.Pro611Leu) c.1700C>T (p.Pro567Leu) c.1805C>T (p.Pro602Leu) c.1796C>T (p.Pro599Leu) c.1766C>T (p.Pro589Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574018G>C | CA361520793 | DIAPH1 | c.1832C>G (p.Pro611Arg) c.1700C>G (p.Pro567Arg) c.1805C>G (p.Pro602Arg) c.1796C>G (p.Pro599Arg) c.1766C>G (p.Pro589Arg) | |
| 5 | g.141574018G= | CA1587248268 | DIAPH1 | c.1832C= (p.Pro611=) c.1700C= (p.Pro567=) c.1805C= (p.Pro602=) c.1796C= (p.Pro599=) c.1766C= (p.Pro589=) | |
| 5 | g.141574018G>T | CA361520797 | DIAPH1 | c.1832C>A (p.Pro611His) c.1700C>A (p.Pro567His) c.1805C>A (p.Pro602His) c.1796C>A (p.Pro599His) c.1766C>A (p.Pro589His) | |
| 5 | g.141574019del | CA2675691848 | DIAPH1 | c.1832del (p.Pro611LeufsTer?) c.1700del (p.Pro567LeufsTer?) c.1805del (p.Pro602LeufsTer?) c.1796del (p.Pro599LeufsTer?) c.1766del (p.Pro589LeufsTer?) | gnomAD v4 |
| 5 | g.141574022_141574023insGGGAGG | CA1082278988 | DIAPH1 | c.1832_1833insCCCTCC (p.Pro611_Pro612insProPro) c.1700_1701insCCCTCC (p.Pro567_Pro568insProPro) c.1805_1806insCCCTCC (p.Pro602_Pro603insProPro) c.1796_1797insCCCTCC (p.Pro599_Pro600insProPro) c.1766_1767insCCCTCC (p.Pro589_Pro590insProPro) | gnomAD v3 gnomAD v4 |
| 5 | g.141574019G>A | CA361520809 | DIAPH1 | c.1831C>T (p.Pro611Ser) c.1699C>T (p.Pro567Ser) c.1804C>T (p.Pro602Ser) c.1795C>T (p.Pro599Ser) c.1765C>T (p.Pro589Ser) | |
| 5 | g.141574019G>C | CA361520813 | DIAPH1 | c.1831C>G (p.Pro611Ala) c.1699C>G (p.Pro567Ala) c.1804C>G (p.Pro602Ala) c.1795C>G (p.Pro599Ala) c.1765C>G (p.Pro589Ala) | |
| 5 | g.141574019G>T | CA361520801 | DIAPH1 | c.1831C>A (p.Pro611Thr) c.1699C>A (p.Pro567Thr) c.1804C>A (p.Pro602Thr) c.1795C>A (p.Pro599Thr) c.1765C>A (p.Pro589Thr) | |
| 5 | g.141574020A>C | CA447088655 | DIAPH1 | c.1830T>G (p.Pro610=) c.1698T>G (p.Pro566=) c.1803T>G (p.Pro601=) c.1794T>G (p.Pro598=) c.1764T>G (p.Pro588=) | |
| 5 | g.141574020A>G | CA447088656 | DIAPH1 | c.1830T>C (p.Pro610=) c.1698T>C (p.Pro566=) c.1803T>C (p.Pro601=) c.1794T>C (p.Pro598=) c.1764T>C (p.Pro588=) | ClinVar gnomAD v4 |
| 5 | g.141574020A>T | CA447088657 | DIAPH1 | c.1830T>A (p.Pro610=) c.1698T>A (p.Pro566=) c.1803T>A (p.Pro601=) c.1794T>A (p.Pro598=) c.1764T>A (p.Pro588=) | |
| 5 | g.141574021G>A | CA361520818 | DIAPH1 | c.1829C>T (p.Pro610Leu) c.1697C>T (p.Pro566Leu) c.1802C>T (p.Pro601Leu) c.1793C>T (p.Pro598Leu) c.1763C>T (p.Pro588Leu) | gnomAD v4 |
| 5 | g.141574021G>C | CA361520823 | DIAPH1 | c.1829C>G (p.Pro610Arg) c.1697C>G (p.Pro566Arg) c.1802C>G (p.Pro601Arg) c.1793C>G (p.Pro598Arg) c.1763C>G (p.Pro588Arg) | |
| 5 | g.141574021G>T | CA361520821 | DIAPH1 | c.1829C>A (p.Pro610His) c.1697C>A (p.Pro566His) c.1802C>A (p.Pro601His) c.1793C>A (p.Pro598His) c.1763C>A (p.Pro588His) | |
| 5 | g.141574022G>A | CA361520829 | DIAPH1 | c.1828C>T (p.Pro610Ser) c.1696C>T (p.Pro566Ser) c.1801C>T (p.Pro601Ser) c.1792C>T (p.Pro598Ser) c.1762C>T (p.Pro588Ser) | |
| 5 | g.141574022G>C | CA361520834 | DIAPH1 | c.1828C>G (p.Pro610Ala) c.1696C>G (p.Pro566Ala) c.1801C>G (p.Pro601Ala) c.1792C>G (p.Pro598Ala) c.1762C>G (p.Pro588Ala) | |
| 5 | g.141574022G>T | CA361520841 | DIAPH1 | c.1828C>A (p.Pro610Thr) c.1696C>A (p.Pro566Thr) c.1801C>A (p.Pro601Thr) c.1792C>A (p.Pro598Thr) c.1762C>A (p.Pro588Thr) | |
| 5 | g.141574023_141574024insAGA | CA2675691849 | DIAPH1 | c.1828_1829insTTC (p.Pro609_Pro610insLeu) c.1696_1697insTTC (p.Pro565_Pro566insLeu) c.1801_1802insTTC (p.Pro600_Pro601insLeu) c.1792_1793insTTC (p.Pro597_Pro598insLeu) c.1762_1763insTTC (p.Pro587_Pro588insLeu) | gnomAD v4 |
| 5 | g.141574023A>C | CA447088661 | DIAPH1 | c.1827T>G (p.Pro609=) c.1695T>G (p.Pro565=) c.1800T>G (p.Pro600=) c.1791T>G (p.Pro597=) c.1761T>G (p.Pro587=) | |
| 5 | g.141574023A>G | CA447088664 | DIAPH1 | c.1827T>C (p.Pro609=) c.1695T>C (p.Pro565=) c.1800T>C (p.Pro600=) c.1791T>C (p.Pro597=) c.1761T>C (p.Pro587=) | |
| 5 | g.141574023A>T | CA447088662 | DIAPH1 | c.1827T>A (p.Pro609=) c.1695T>A (p.Pro565=) c.1800T>A (p.Pro600=) c.1791T>A (p.Pro597=) c.1761T>A (p.Pro587=) | |
| 5 | g.141574024_141574025insAAG | CA2675691850 | DIAPH1 | c.1827_1828insTCT (p.Pro609_Pro610insSer) c.1695_1696insTCT (p.Pro565_Pro566insSer) c.1800_1801insTCT (p.Pro600_Pro601insSer) c.1791_1792insTCT (p.Pro597_Pro598insSer) c.1761_1762insTCT (p.Pro587_Pro588insSer) | gnomAD v4 |
| 5 | g.141574024G>A | CA3479207 | DIAPH1 | c.1826C>T (p.Pro609Leu) c.1694C>T (p.Pro565Leu) c.1799C>T (p.Pro600Leu) c.1790C>T (p.Pro597Leu) c.1760C>T (p.Pro587Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.141574024G>C | CA361520847 | DIAPH1 | c.1826C>G (p.Pro609Arg) c.1694C>G (p.Pro565Arg) c.1799C>G (p.Pro600Arg) c.1790C>G (p.Pro597Arg) c.1760C>G (p.Pro587Arg) | |
| 5 | g.141574024G= | CA1587248271 | DIAPH1 | c.1826C= (p.Pro609=) c.1694C= (p.Pro565=) c.1799C= (p.Pro600=) c.1790C= (p.Pro597=) c.1760C= (p.Pro587=) | |
| 5 | g.141574024G>T | CA361520848 | DIAPH1 | c.1826C>A (p.Pro609His) c.1694C>A (p.Pro565His) c.1799C>A (p.Pro600His) c.1790C>A (p.Pro597His) c.1760C>A (p.Pro587His) | |
| 5 | g.141574025G>A | CA361520849 | DIAPH1 | c.1825C>T (p.Pro609Ser) c.1693C>T (p.Pro565Ser) c.1798C>T (p.Pro600Ser) c.1789C>T (p.Pro597Ser) c.1759C>T (p.Pro587Ser) | dbSNP gnomAD v4 |
| 5 | g.141574025G>C | CA361520850 | DIAPH1 | c.1825C>G (p.Pro609Ala) c.1693C>G (p.Pro565Ala) c.1798C>G (p.Pro600Ala) c.1789C>G (p.Pro597Ala) c.1759C>G (p.Pro587Ala) | |
| 5 | g.141574025G= | CA1587248277 | DIAPH1 | c.1825C= (p.Pro609=) c.1693C= (p.Pro565=) c.1798C= (p.Pro600=) c.1789C= (p.Pro597=) c.1759C= (p.Pro587=) | |
| 5 | g.141574025G>T | CA361520853 | DIAPH1 | c.1825C>A (p.Pro609Thr) c.1693C>A (p.Pro565Thr) c.1798C>A (p.Pro600Thr) c.1789C>A (p.Pro597Thr) c.1759C>A (p.Pro587Thr) | gnomAD v4 |
| 5 | g.141574026A>C | CA447088670 | DIAPH1 | c.1824T>G (p.Pro608=) c.1692T>G (p.Pro564=) c.1797T>G (p.Pro599=) c.1788T>G (p.Pro596=) c.1758T>G (p.Pro586=) | |
| 5 | g.141574026A>G | CA447088671 | DIAPH1 | c.1824T>C (p.Pro608=) c.1692T>C (p.Pro564=) c.1797T>C (p.Pro599=) c.1788T>C (p.Pro596=) c.1758T>C (p.Pro586=) | gnomAD v4 |
| 5 | g.141574026A>T | CA447088672 | DIAPH1 | c.1824T>A (p.Pro608=) c.1692T>A (p.Pro564=) c.1797T>A (p.Pro599=) c.1788T>A (p.Pro596=) c.1758T>A (p.Pro586=) | |
| 5 | g.141574026_141574030delinsAGGAG | CA1587248285 | DIAPH1 | c.1820_1824delinsCTCCT (p.Thr607=) c.1688_1692delinsCTCCT (p.Thr563=) c.1793_1797delinsCTCCT (p.Thr598=) c.1784_1788delinsCTCCT (p.Thr595=) c.1754_1758delinsCTCCT (p.Thr585=) | |
| 5 | g.141574030_141574031insCAGGAG | CA2710392033 | DIAPH1 | c.1824_1825insGCTCCT (p.Pro608_Pro609insAlaPro) c.1692_1693insGCTCCT (p.Pro564_Pro565insAlaPro) c.1797_1798insGCTCCT (p.Pro599_Pro600insAlaPro) c.1788_1789insGCTCCT (p.Pro596_Pro597insAlaPro) c.1758_1759insGCTCCT (p.Pro586_Pro587insAlaPro) | dbSNP |
| 5 | g.141574027G>A | CA361520858 | DIAPH1 | c.1823C>T (p.Pro608Leu) c.1691C>T (p.Pro564Leu) c.1796C>T (p.Pro599Leu) c.1787C>T (p.Pro596Leu) c.1757C>T (p.Pro586Leu) | gnomAD v4 |
| 5 | g.141574027G>C | CA361520862 | DIAPH1 | c.1823C>G (p.Pro608Arg) c.1691C>G (p.Pro564Arg) c.1796C>G (p.Pro599Arg) c.1787C>G (p.Pro596Arg) c.1757C>G (p.Pro586Arg) | |
| 5 | g.141574027G>T | CA361520869 | DIAPH1 | c.1823C>A (p.Pro608His) c.1691C>A (p.Pro564His) c.1796C>A (p.Pro599His) c.1787C>A (p.Pro596His) c.1757C>A (p.Pro586His) | |
| 5 | g.141574027_141574030del | CA128437349 | DIAPH1 | c.1820_1823del (p.Thr607IlefsTer?) c.1688_1691del (p.Thr563IlefsTer?) c.1793_1796del (p.Thr598IlefsTer?) c.1784_1787del (p.Thr595IlefsTer?) c.1754_1757del (p.Thr585IlefsTer?) | dbSNP |
| 5 | g.141574028G>A | CA361520883 | DIAPH1 | c.1822C>T (p.Pro608Ser) c.1690C>T (p.Pro564Ser) c.1795C>T (p.Pro599Ser) c.1786C>T (p.Pro596Ser) c.1756C>T (p.Pro586Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574028G>C | CA3479208 | DIAPH1 | c.1822C>G (p.Pro608Ala) c.1690C>G (p.Pro564Ala) c.1795C>G (p.Pro599Ala) c.1786C>G (p.Pro596Ala) c.1756C>G (p.Pro586Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.141574028G= | CA1587248291 | DIAPH1 | c.1822C= (p.Pro608=) c.1690C= (p.Pro564=) c.1795C= (p.Pro599=) c.1786C= (p.Pro596=) c.1756C= (p.Pro586=) | |
| 5 | g.141574028G>T | CA128437353 | DIAPH1 | c.1822C>A (p.Pro608Thr) c.1690C>A (p.Pro564Thr) c.1795C>A (p.Pro599Thr) c.1786C>A (p.Pro596Thr) c.1756C>A (p.Pro586Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574029A>C | CA447088678 | DIAPH1 | c.1821T>G (p.Thr607=) c.1689T>G (p.Thr563=) c.1794T>G (p.Thr598=) c.1785T>G (p.Thr595=) c.1755T>G (p.Thr585=) | ClinVar dbSNP |
| 5 | g.141574029A>G | CA447088680 | DIAPH1 | c.1821T>C (p.Thr607=) c.1689T>C (p.Thr563=) c.1794T>C (p.Thr598=) c.1785T>C (p.Thr595=) c.1755T>C (p.Thr585=) | |
| 5 | g.141574029A>T | CA447088682 | DIAPH1 | c.1821T>A (p.Thr607=) c.1689T>A (p.Thr563=) c.1794T>A (p.Thr598=) c.1785T>A (p.Thr595=) c.1755T>A (p.Thr585=) | |
| 5 | g.141574030_141574031insCAG | CA128437359 | DIAPH1 | c.1821_1822insGCT (p.Thr607_Pro608insAla) c.1689_1690insGCT (p.Thr563_Pro564insAla) c.1794_1795insGCT (p.Thr598_Pro599insAla) c.1785_1786insGCT (p.Thr595_Pro596insAla) c.1755_1756insGCT (p.Thr585_Pro586insAla) | dbSNP gnomAD v4 |
| 5 | g.141574029_141574031del | CA645558437 | DIAPH1 | c.1819_1821del (p.Thr607del) c.1687_1689del (p.Thr563del) c.1792_1794del (p.Thr598del) c.1783_1785del (p.Thr595del) c.1753_1755del (p.Thr585del) | COSMIC |
| 5 | g.141574031_141574045del | CA1082278994 | DIAPH1 | c.1807_1821del (p.Gly603_Thr607del) c.1675_1689del (p.Gly559_Thr563del) c.1780_1794del (p.Gly594_Thr598del) c.1771_1785del (p.Gly591_Thr595del) c.1741_1755del (p.Gly581_Thr585del) | gnomAD v3 gnomAD v4 |
| 5 | g.141574030G>A | CA361520889 | DIAPH1 | c.1820C>T (p.Thr607Ile) c.1688C>T (p.Thr563Ile) c.1793C>T (p.Thr598Ile) c.1784C>T (p.Thr595Ile) c.1754C>T (p.Thr585Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.141574030G>C | CA361520893 | DIAPH1 | c.1820C>G (p.Thr607Ser) c.1688C>G (p.Thr563Ser) c.1793C>G (p.Thr598Ser) c.1784C>G (p.Thr595Ser) c.1754C>G (p.Thr585Ser) | |
| 5 | g.141574030G= | CA1587248304 | DIAPH1 | c.1820C= (p.Thr607=) c.1688C= (p.Thr563=) c.1793C= (p.Thr598=) c.1784C= (p.Thr595=) c.1754C= (p.Thr585=) | |
| 5 | g.141574030G>T | CA361520905 | DIAPH1 | c.1820C>A (p.Thr607Asn) c.1688C>A (p.Thr563Asn) c.1793C>A (p.Thr598Asn) c.1784C>A (p.Thr595Asn) c.1754C>A (p.Thr585Asn) | ClinVar |
| 5 | g.141574030dup | CA1082279000 | DIAPH1 | c.1820dup (p.Pro608SerfsTer?) c.1688dup (p.Pro564SerfsTer?) c.1793dup (p.Pro599SerfsTer?) c.1784dup (p.Pro596SerfsTer?) c.1754dup (p.Pro586SerfsTer?) | gnomAD v3 gnomAD v4 |
| 5 | g.141574030_141574031delinsGT | CA1587248302 | DIAPH1 | c.1819_1820delinsAC (p.Thr607=) c.1687_1688delinsAC (p.Thr563=) c.1792_1793delinsAC (p.Thr598=) c.1783_1784delinsAC (p.Thr595=) c.1753_1754delinsAC (p.Thr585=) | |
| 5 | g.141574031del | CA563502802 | DIAPH1 | c.1819del (p.Thr607LeufsTer?) c.1687del (p.Thr563LeufsTer?) c.1792del (p.Thr598LeufsTer?) c.1783del (p.Thr595LeufsTer?) c.1753del (p.Thr585LeufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574031T>A | CA361520907 | DIAPH1 | c.1819A>T (p.Thr607Ser) c.1687A>T (p.Thr563Ser) c.1792A>T (p.Thr598Ser) c.1783A>T (p.Thr595Ser) c.1753A>T (p.Thr585Ser) | gnomAD v3 gnomAD v4 |
| 5 | g.141574031T>C | CA361520913 | DIAPH1 | c.1819A>G (p.Thr607Ala) c.1687A>G (p.Thr563Ala) c.1792A>G (p.Thr598Ala) c.1783A>G (p.Thr595Ala) c.1753A>G (p.Thr585Ala) | |
| 5 | g.141574031T>G | CA361520917 | DIAPH1 | c.1819A>C (p.Thr607Pro) c.1687A>C (p.Thr563Pro) c.1792A>C (p.Thr598Pro) c.1783A>C (p.Thr595Pro) c.1753A>C (p.Thr585Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.141574031T= | CA1587248316 | DIAPH1 | c.1819A= (p.Thr607=) c.1687A= (p.Thr563=) c.1792A= (p.Thr598=) c.1783A= (p.Thr595=) c.1753A= (p.Thr585=) | |
| 5 | g.141574032G>A | CA447088686 | DIAPH1 | c.1818C>T (p.Thr606=) c.1795C>T (n.1795C>T) c.1686C>T (p.Thr562=) c.1791C>T (p.Thr597=) c.1782C>T (p.Thr594=) c.1752C>T (p.Thr584=) | gnomAD v4 |
| 5 | g.141574032G>C | CA447088684 | DIAPH1 | c.1818C>G (p.Thr606=) c.1795C>G (n.1795C>G) c.1686C>G (p.Thr562=) c.1791C>G (p.Thr597=) c.1782C>G (p.Thr594=) c.1752C>G (p.Thr584=) | |
| 5 | g.141574032G>T | CA447088683 | DIAPH1 | c.1818C>A (p.Thr606=) c.1795C>A (n.1795C>A) c.1686C>A (p.Thr562=) c.1791C>A (p.Thr597=) c.1782C>A (p.Thr594=) c.1752C>A (p.Thr584=) | |
| 5 | g.141574032_141574043delinsGGTACTATCCCC | CA1587248318 | DIAPH1 | c.1807_1818delinsGGGGATAGTACC (p.Gly603=) c.1784_1795delinsGGGGATAGTACC (n.1784_1795delinsGGGGATAGTACC) c.1675_1686delinsGGGGATAGTACC (p.Gly559=) c.1780_1791delinsGGGGATAGTACC (p.Gly594=) c.1771_1782delinsGGGGATAGTACC (p.Gly591=) c.1741_1752delinsGGGGATAGTACC (p.Gly581=) | |
| 5 | g.141574033G>A | CA361520924 | DIAPH1 | c.1817C>T (p.Thr606Ile) c.1794C>T (n.1794C>T) c.1685C>T (p.Thr562Ile) c.1790C>T (p.Thr597Ile) c.1781C>T (p.Thr594Ile) c.1751C>T (p.Thr584Ile) | gnomAD v4 |
| 5 | g.141574033G>C | CA3479209 | DIAPH1 | c.1817C>G (p.Thr606Ser) c.1794C>G (n.1794C>G) c.1685C>G (p.Thr562Ser) c.1790C>G (p.Thr597Ser) c.1781C>G (p.Thr594Ser) c.1751C>G (p.Thr584Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.141574033G= | CA1587248321 | DIAPH1 | c.1817C= (p.Thr606=) c.1794C= (n.1794C=) c.1685C= (p.Thr562=) c.1790C= (p.Thr597=) c.1781C= (p.Thr594=) c.1751C= (p.Thr584=) | |
| 5 | g.141574033G>T | CA361520940 | DIAPH1 | c.1817C>A (p.Thr606Asn) c.1794C>A (n.1794C>A) c.1685C>A (p.Thr562Asn) c.1790C>A (p.Thr597Asn) c.1781C>A (p.Thr594Asn) c.1751C>A (p.Thr584Asn) | |
| 5 | g.141574033_141574043del | CA563502803 | DIAPH1 | c.1807_1817del (p.Gly603HisfsTer?) c.1784_1794del (n.1784_1794del) c.1675_1685del (p.Gly559HisfsTer?) c.1780_1790del (p.Gly594HisfsTer?) c.1771_1781del (p.Gly591HisfsTer?) c.1741_1751del (p.Gly581HisfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574034T>A | CA361520944 | DIAPH1 | c.1816A>T (p.Thr606Ser) c.1793A>T (n.1793A>T) c.1684A>T (p.Thr562Ser) c.1789A>T (p.Thr597Ser) c.1780A>T (p.Thr594Ser) c.1750A>T (p.Thr584Ser) | |
| 5 | g.141574034T>C | CA361520949 | DIAPH1 | c.1816A>G (p.Thr606Ala) c.1793A>G (n.1793A>G) c.1684A>G (p.Thr562Ala) c.1789A>G (p.Thr597Ala) c.1780A>G (p.Thr594Ala) c.1750A>G (p.Thr584Ala) | |
| 5 | g.141574034T>G | CA361520952 | DIAPH1 | c.1816A>C (p.Thr606Pro) c.1793A>C (n.1793A>C) c.1684A>C (p.Thr562Pro) c.1789A>C (p.Thr597Pro) c.1780A>C (p.Thr594Pro) c.1750A>C (p.Thr584Pro) | gnomAD v4 |
| 5 | g.141574034_141574043del | CA1082279008 | DIAPH1 | c.1807_1816del (p.Gly603ProfsTer?) c.1784_1793del (n.1784_1793del) c.1675_1684del (p.Gly559ProfsTer?) c.1780_1789del (p.Gly594ProfsTer?) c.1771_1780del (p.Gly591ProfsTer?) c.1741_1750del (p.Gly581ProfsTer?) | gnomAD v3 gnomAD v4 |
| 5 | g.141574035A>C | CA361520956 | DIAPH1 | c.1815T>G (p.Ser605Arg) c.1792T>G (n.1792T>G) c.1683T>G (p.Ser561Arg) c.1788T>G (p.Ser596Arg) c.1779T>G (p.Ser593Arg) c.1749T>G (p.Ser583Arg) | |
| 5 | g.141574035A>G | CA447088691 | DIAPH1 | c.1815T>C (p.Ser605=) c.1792T>C (n.1792T>C) c.1683T>C (p.Ser561=) c.1788T>C (p.Ser596=) c.1779T>C (p.Ser593=) c.1749T>C (p.Ser583=) | dbSNP gnomAD v4 COSMIC |
| 5 | g.141574035A>T | CA361520958 | DIAPH1 | c.1815T>A (p.Ser605Arg) c.1792T>A (n.1792T>A) c.1683T>A (p.Ser561Arg) c.1788T>A (p.Ser596Arg) c.1779T>A (p.Ser593Arg) c.1749T>A (p.Ser583Arg) | |
| 5 | g.141574036C>A | CA361520961 | DIAPH1 | c.1814G>T (p.Ser605Ile) c.1791G>T (n.1791G>T) c.1682G>T (p.Ser561Ile) c.1787G>T (p.Ser596Ile) c.1778G>T (p.Ser593Ile) c.1748G>T (p.Ser583Ile) | |
| 5 | g.141574036C>G | CA361520968 | DIAPH1 | c.1814G>C (p.Ser605Thr) c.1791G>C (n.1791G>C) c.1682G>C (p.Ser561Thr) c.1787G>C (p.Ser596Thr) c.1778G>C (p.Ser593Thr) c.1748G>C (p.Ser583Thr) | |
| 5 | g.141574036C>T | CA361520964 | DIAPH1 | c.1814G>A (p.Ser605Asn) c.1791G>A (n.1791G>A) c.1682G>A (p.Ser561Asn) c.1787G>A (p.Ser596Asn) c.1778G>A (p.Ser593Asn) c.1748G>A (p.Ser583Asn) | |
| 5 | g.141574037T>A | CA361520975 | DIAPH1 | c.1813A>T (p.Ser605Cys) c.1790A>T (n.1790A>T) c.1681A>T (p.Ser561Cys) c.1786A>T (p.Ser596Cys) c.1777A>T (p.Ser593Cys) c.1747A>T (p.Ser583Cys) | |
| 5 | g.141574037T>C | CA361520978 | DIAPH1 | c.1813A>G (p.Ser605Gly) c.1790A>G (n.1790A>G) c.1681A>G (p.Ser561Gly) c.1786A>G (p.Ser596Gly) c.1777A>G (p.Ser593Gly) c.1747A>G (p.Ser583Gly) | |
| 5 | g.141574037T>G | CA361520979 | DIAPH1 | c.1813A>C (p.Ser605Arg) c.1790A>C (n.1790A>C) c.1681A>C (p.Ser561Arg) c.1786A>C (p.Ser596Arg) c.1777A>C (p.Ser593Arg) c.1747A>C (p.Ser583Arg) | |
| 5 | g.141574038A>C | CA361520980 | DIAPH1 | c.1812T>G (p.Asp604Glu) c.1789T>G (n.1789T>G) c.1680T>G (p.Asp560Glu) c.1785T>G (p.Asp595Glu) c.1776T>G (p.Asp592Glu) c.1746T>G (p.Asp582Glu) | |
| 5 | g.141574038A>G | CA447088694 | DIAPH1 | c.1812T>C (p.Asp604=) c.1789T>C (n.1789T>C) c.1680T>C (p.Asp560=) c.1785T>C (p.Asp595=) c.1776T>C (p.Asp592=) c.1746T>C (p.Asp582=) | |
| 5 | g.141574038A>T | CA361520981 | DIAPH1 | c.1812T>A (p.Asp604Glu) c.1789T>A (n.1789T>A) c.1680T>A (p.Asp560Glu) c.1785T>A (p.Asp595Glu) c.1776T>A (p.Asp592Glu) c.1746T>A (p.Asp582Glu) | |
| 5 | g.141574039T>A | CA361520984 | DIAPH1 | c.1811A>T (p.Asp604Val) c.1788A>T (n.1788A>T) c.1679A>T (p.Asp560Val) c.1784A>T (p.Asp595Val) c.1775A>T (p.Asp592Val) c.1745A>T (p.Asp582Val) | gnomAD v4 |
| 5 | g.141574039T>C | CA361520987 | DIAPH1 | c.1811A>G (p.Asp604Gly) c.1788A>G (n.1788A>G) c.1679A>G (p.Asp560Gly) c.1784A>G (p.Asp595Gly) c.1775A>G (p.Asp592Gly) c.1745A>G (p.Asp582Gly) | |
| 5 | g.141574039T>G | CA361520989 | DIAPH1 | c.1811A>C (p.Asp604Ala) c.1788A>C (n.1788A>C) c.1679A>C (p.Asp560Ala) c.1784A>C (p.Asp595Ala) c.1775A>C (p.Asp592Ala) c.1745A>C (p.Asp582Ala) | |
| 5 | g.141574040C>A | CA361520991 | DIAPH1 | c.1810G>T (p.Asp604Tyr) c.1787G>T (n.1787G>T) c.1678G>T (p.Asp560Tyr) c.1783G>T (p.Asp595Tyr) c.1774G>T (p.Asp592Tyr) c.1744G>T (p.Asp582Tyr) | |
| 5 | g.141574040C>G | CA361520995 | DIAPH1 | c.1810G>C (p.Asp604His) c.1787G>C (n.1787G>C) c.1678G>C (p.Asp560His) c.1783G>C (p.Asp595His) c.1774G>C (p.Asp592His) c.1744G>C (p.Asp582His) | |
| 5 | g.141574040C>T | CA361520996 | DIAPH1 | c.1810G>A (p.Asp604Asn) c.1787G>A (n.1787G>A) c.1678G>A (p.Asp560Asn) c.1783G>A (p.Asp595Asn) c.1774G>A (p.Asp592Asn) c.1744G>A (p.Asp582Asn) | |
| 5 | g.141574041C>A | CA447088696 | DIAPH1 | c.1809G>T (p.Gly603=) c.1786G>T (n.1786G>T) c.1677G>T (p.Gly559=) c.1782G>T (p.Gly594=) c.1773G>T (p.Gly591=) c.1743G>T (p.Gly581=) | gnomAD v4 |
| 5 | g.141574041C= | CA1587248324 | DIAPH1 | c.1809G= (p.Gly603=) c.1786G= (n.1786G=) c.1677G= (p.Gly559=) c.1782G= (p.Gly594=) c.1773G= (p.Gly591=) c.1743G= (p.Gly581=) | |
| 5 | g.141574041C>G | CA447088698 | DIAPH1 | c.1809G>C (p.Gly603=) c.1786G>C (n.1786G>C) c.1677G>C (p.Gly559=) c.1782G>C (p.Gly594=) c.1773G>C (p.Gly591=) c.1743G>C (p.Gly581=) | |
| 5 | g.141574041C>T | CA447088699 | DIAPH1 | c.1809G>A (p.Gly603=) c.1786G>A (n.1786G>A) c.1677G>A (p.Gly559=) c.1782G>A (p.Gly594=) c.1773G>A (p.Gly591=) c.1743G>A (p.Gly581=) | dbSNP gnomAD v4 |
| 5 | g.141574042C>A | CA361521002 | DIAPH1 | c.1808G>T (p.Gly603Val) c.1785G>T (n.1785G>T) c.1676G>T (p.Gly559Val) c.1781G>T (p.Gly594Val) c.1772G>T (p.Gly591Val) c.1742G>T (p.Gly581Val) | gnomAD v4 |
| 5 | g.141574042C= | CA1587248328 | DIAPH1 | c.1808G= (p.Gly603=) c.1785G= (n.1785G=) c.1676G= (p.Gly559=) c.1781G= (p.Gly594=) c.1772G= (p.Gly591=) c.1742G= (p.Gly581=) | |
| 5 | g.141574042C>G | CA361520999 | DIAPH1 | c.1808G>C (p.Gly603Ala) c.1785G>C (n.1785G>C) c.1676G>C (p.Gly559Ala) c.1781G>C (p.Gly594Ala) c.1772G>C (p.Gly591Ala) c.1742G>C (p.Gly581Ala) | ClinVar dbSNP |
| 5 | g.141574042C>T | CA3479210 | DIAPH1 | c.1808G>A (p.Gly603Glu) c.1785G>A (n.1785G>A) c.1676G>A (p.Gly559Glu) c.1781G>A (p.Gly594Glu) c.1772G>A (p.Gly591Glu) c.1742G>A (p.Gly581Glu) | dbSNP ExAC |
| 5 | g.141574043C>A | CA361521004 | DIAPH1 | c.1807G>T (p.Gly603Trp) c.1784G>T (n.1784G>T) c.1675G>T (p.Gly559Trp) c.1780G>T (p.Gly594Trp) c.1771G>T (p.Gly591Trp) c.1741G>T (p.Gly581Trp) | gnomAD v4 |
| 5 | g.141574043C= | CA1587248334 | DIAPH1 | c.1807G= (p.Gly603=) c.1784G= (n.1784G=) c.1675G= (p.Gly559=) c.1780G= (p.Gly594=) c.1771G= (p.Gly591=) c.1741G= (p.Gly581=) | |
| 5 | g.141574043C>G | CA361521007 | DIAPH1 | c.1807G>C (p.Gly603Arg) c.1784G>C (n.1784G>C) c.1675G>C (p.Gly559Arg) c.1780G>C (p.Gly594Arg) c.1771G>C (p.Gly591Arg) c.1741G>C (p.Gly581Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574043C>T | CA361521024 | DIAPH1 | c.1807G>A (p.Gly603Arg) c.1784G>A (n.1784G>A) c.1675G>A (p.Gly559Arg) c.1780G>A (p.Gly594Arg) c.1771G>A (p.Gly591Arg) c.1741G>A (p.Gly581Arg) | |
| 5 | g.141574044A>C | CA447088704 | DIAPH1 | c.1806T>G (p.Pro602=) c.1783T>G (n.1783T>G) c.1674T>G (p.Pro558=) c.1779T>G (p.Pro593=) c.1770T>G (p.Pro590=) c.1740T>G (p.Pro580=) | ClinVar dbSNP |
| 5 | g.141574044A>G | CA447088705 | DIAPH1 | c.1806T>C (p.Pro602=) c.1783T>C (n.1783T>C) c.1674T>C (p.Pro558=) c.1779T>C (p.Pro593=) c.1770T>C (p.Pro590=) c.1740T>C (p.Pro580=) | |
| 5 | g.141574044A>T | CA447088706 | DIAPH1 | c.1806T>A (p.Pro602=) c.1783T>A (n.1783T>A) c.1674T>A (p.Pro558=) c.1779T>A (p.Pro593=) c.1770T>A (p.Pro590=) c.1740T>A (p.Pro580=) | |
| 5 | g.141574045G>A | CA361521030 | DIAPH1 | c.1805C>T (p.Pro602Leu) c.1782C>T (n.1782C>T) c.1673C>T (p.Pro558Leu) c.1778C>T (p.Pro593Leu) c.1769C>T (p.Pro590Leu) c.1739C>T (p.Pro580Leu) | ClinVar gnomAD v4 |
| 5 | g.141574045G>C | CA361521039 | DIAPH1 | c.1805C>G (p.Pro602Arg) c.1782C>G (n.1782C>G) c.1673C>G (p.Pro558Arg) c.1778C>G (p.Pro593Arg) c.1769C>G (p.Pro590Arg) c.1739C>G (p.Pro580Arg) | |
| 5 | g.141574045G>T | CA361521042 | DIAPH1 | c.1805C>A (p.Pro602His) c.1782C>A (n.1782C>A) c.1673C>A (p.Pro558His) c.1778C>A (p.Pro593His) c.1769C>A (p.Pro590His) c.1739C>A (p.Pro580His) | |
| 5 | g.141574046G>A | CA361521050 | DIAPH1 | c.1804C>T (p.Pro602Ser) c.1781C>T (n.1781C>T) c.1672C>T (p.Pro558Ser) c.1777C>T (p.Pro593Ser) c.1768C>T (p.Pro590Ser) c.1738C>T (p.Pro580Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.141574046G>C | CA361521054 | DIAPH1 | c.1804C>G (p.Pro602Ala) c.1781C>G (n.1781C>G) c.1672C>G (p.Pro558Ala) c.1777C>G (p.Pro593Ala) c.1768C>G (p.Pro590Ala) c.1738C>G (p.Pro580Ala) | |
| 5 | g.141574046G= | CA1587248337 | DIAPH1 | c.1804C= (p.Pro602=) c.1781C= (n.1781C=) c.1672C= (p.Pro558=) c.1777C= (p.Pro593=) c.1768C= (p.Pro590=) c.1738C= (p.Pro580=) | |
| 5 | g.141574046G>T | CA361521058 | DIAPH1 | c.1804C>A (p.Pro602Thr) c.1781C>A (n.1781C>A) c.1672C>A (p.Pro558Thr) c.1777C>A (p.Pro593Thr) c.1768C>A (p.Pro590Thr) c.1738C>A (p.Pro580Thr) | |
| 5 | g.141574047A>C | CA447088712 | DIAPH1 | c.1803T>G (p.Ala601=) c.1780T>G (n.1780T>G) c.1671T>G (p.Ala557=) c.1776T>G (p.Ala592=) c.1767T>G (p.Ala589=) c.1737T>G (p.Ala579=) | |
| 5 | g.141574047A>G | CA447088708 | DIAPH1 | c.1803T>C (p.Ala601=) c.1780T>C (n.1780T>C) c.1671T>C (p.Ala557=) c.1776T>C (p.Ala592=) c.1767T>C (p.Ala589=) c.1737T>C (p.Ala579=) | |
| 5 | g.141574047A>T | CA447088710 | DIAPH1 | c.1803T>A (p.Ala601=) c.1780T>A (n.1780T>A) c.1671T>A (p.Ala557=) c.1776T>A (p.Ala592=) c.1767T>A (p.Ala589=) c.1737T>A (p.Ala579=) | |
| 5 | g.141574048G>A | CA3479211 | DIAPH1 | c.1802C>T (p.Ala601Val) c.1779C>T (n.1779C>T) c.1670C>T (p.Ala557Val) c.1775C>T (p.Ala592Val) c.1766C>T (p.Ala589Val) c.1736C>T (p.Ala579Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.141574048G>C | CA361521066 | DIAPH1 | c.1802C>G (p.Ala601Gly) c.1779C>G (n.1779C>G) c.1670C>G (p.Ala557Gly) c.1775C>G (p.Ala592Gly) c.1766C>G (p.Ala589Gly) c.1736C>G (p.Ala579Gly) | ClinVar |
| 5 | g.141574048G= | CA1587248339 | DIAPH1 | c.1802C= (p.Ala601=) c.1779C= (n.1779C=) c.1670C= (p.Ala557=) c.1775C= (p.Ala592=) c.1766C= (p.Ala589=) c.1736C= (p.Ala579=) | |
| 5 | g.141574048G>T | CA361521068 | DIAPH1 | c.1802C>A (p.Ala601Asp) c.1779C>A (n.1779C>A) c.1670C>A (p.Ala557Asp) c.1775C>A (p.Ala592Asp) c.1766C>A (p.Ala589Asp) c.1736C>A (p.Ala579Asp) | gnomAD v4 |
| 5 | g.141574049C>A | CA361521074 | DIAPH1 | c.1801G>T (p.Ala601Ser) c.1778G>T (n.1778G>T) c.1669G>T (p.Ala557Ser) c.1774G>T (p.Ala592Ser) c.1765G>T (p.Ala589Ser) c.1735G>T (p.Ala579Ser) | |
| 5 | g.141574049C= | CA1587248342 | DIAPH1 | c.1801G= (p.Ala601=) c.1778G= (n.1778G=) c.1669G= (p.Ala557=) c.1774G= (p.Ala592=) c.1765G= (p.Ala589=) c.1735G= (p.Ala579=) | |
| 5 | g.141574049C>G | CA361521092 | DIAPH1 | c.1801G>C (p.Ala601Pro) c.1778G>C (n.1778G>C) c.1669G>C (p.Ala557Pro) c.1774G>C (p.Ala592Pro) c.1765G>C (p.Ala589Pro) c.1735G>C (p.Ala579Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.141574049C>T | CA361521088 | DIAPH1 | c.1801G>A (p.Ala601Thr) c.1778G>A (n.1778G>A) c.1669G>A (p.Ala557Thr) c.1774G>A (p.Ala592Thr) c.1765G>A (p.Ala589Thr) c.1735G>A (p.Ala579Thr) | |
| 5 | g.141574050A>C | CA447088715 | DIAPH1 | c.1800T>G (p.Pro600=) c.1777T>G (n.1777T>G) c.1668T>G (p.Pro556=) c.1773T>G (p.Pro591=) c.1764T>G (p.Pro588=) c.1734T>G (p.Pro578=) | |
| 5 | g.141574050A>G | CA447088716 | DIAPH1 | c.1800T>C (p.Pro600=) c.1777T>C (n.1777T>C) c.1668T>C (p.Pro556=) c.1773T>C (p.Pro591=) c.1764T>C (p.Pro588=) c.1734T>C (p.Pro578=) | gnomAD v4 |
| 5 | g.141574050A>T | CA447088717 | DIAPH1 | c.1800T>A (p.Pro600=) c.1777T>A (n.1777T>A) c.1668T>A (p.Pro556=) c.1773T>A (p.Pro591=) c.1764T>A (p.Pro588=) c.1734T>A (p.Pro578=) | |
| 5 | g.141574050_141574056delinsAGGTGGT | CA1587248346 | DIAPH1 | c.1794_1800delinsACCACCT (p.Pro598=) c.1771_1777delinsACCACCT (n.1771_1777delinsACCACCT) c.1662_1668delinsACCACCT (p.Pro554=) c.1767_1773delinsACCACCT (p.Pro589=) c.1758_1764delinsACCACCT (p.Pro586=) c.1728_1734delinsACCACCT (p.Pro576=) |