Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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=) | |
5 | g.141574051G>A | CA361521114 | DIAPH1 | c.1799C>T (p.Pro600Leu) c.1776C>T (n.1776C>T) c.1667C>T (p.Pro556Leu) c.1772C>T (p.Pro591Leu) c.1763C>T (p.Pro588Leu) c.1733C>T (p.Pro578Leu) | |
5 | g.141574051G>C | CA361521124 | DIAPH1 | c.1799C>G (p.Pro600Arg) c.1776C>G (n.1776C>G) c.1667C>G (p.Pro556Arg) c.1772C>G (p.Pro591Arg) c.1763C>G (p.Pro588Arg) c.1733C>G (p.Pro578Arg) | |
5 | g.141574051G>T | CA361521121 | DIAPH1 | c.1799C>A (p.Pro600His) c.1776C>A (n.1776C>A) c.1667C>A (p.Pro556His) c.1772C>A (p.Pro591His) c.1763C>A (p.Pro588His) c.1733C>A (p.Pro578His) | |
5 | g.141574056_141574061del | CA804797151 | DIAPH1 | c.1794_1799del (p.Pro599_Pro600del) c.1771_1776del (n.1771_1776del) c.1662_1667del (p.Pro555_Pro556del) c.1767_1772del (p.Pro590_Pro591del) c.1758_1763del (p.Pro587_Pro588del) c.1728_1733del (p.Pro577_Pro578del) | ClinVar dbSNP |
5 | g.141574052G>A | CA361521126 | DIAPH1 | c.1798C>T (p.Pro600Ser) c.1775C>T (n.1775C>T) c.1666C>T (p.Pro556Ser) c.1771C>T (p.Pro591Ser) c.1762C>T (p.Pro588Ser) c.1732C>T (p.Pro578Ser) | gnomAD v4 |
5 | g.141574052G>C | CA361521130 | DIAPH1 | c.1798C>G (p.Pro600Ala) c.1775C>G (n.1775C>G) c.1666C>G (p.Pro556Ala) c.1771C>G (p.Pro591Ala) c.1762C>G (p.Pro588Ala) c.1732C>G (p.Pro578Ala) | gnomAD v4 |
5 | g.141574052G>T | CA361521134 | DIAPH1 | c.1798C>A (p.Pro600Thr) c.1775C>A (n.1775C>A) c.1666C>A (p.Pro556Thr) c.1771C>A (p.Pro591Thr) c.1762C>A (p.Pro588Thr) c.1732C>A (p.Pro578Thr) | |
5 | g.141574053T>A | CA447088723 | DIAPH1 | c.1797A>T (p.Pro599=) c.1774A>T (n.1774A>T) c.1665A>T (p.Pro555=) c.1770A>T (p.Pro590=) c.1761A>T (p.Pro587=) c.1731A>T (p.Pro577=) | gnomAD v3 gnomAD v4 |
5 | g.141574053T>C | CA447088721 | DIAPH1 | c.1797A>G (p.Pro599=) c.1774A>G (n.1774A>G) c.1665A>G (p.Pro555=) c.1770A>G (p.Pro590=) c.1761A>G (p.Pro587=) c.1731A>G (p.Pro577=) | |
5 | g.141574053T>G | CA447088722 | DIAPH1 | c.1797A>C (p.Pro599=) c.1774A>C (n.1774A>C) c.1665A>C (p.Pro555=) c.1770A>C (p.Pro590=) c.1761A>C (p.Pro587=) c.1731A>C (p.Pro577=) | |
5 | g.141574054G>A | CA361521138 | DIAPH1 | c.1796C>T (p.Pro599Leu) c.1773C>T (n.1773C>T) c.1664C>T (p.Pro555Leu) c.1769C>T (p.Pro590Leu) c.1760C>T (p.Pro587Leu) c.1730C>T (p.Pro577Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.141574054G>C | CA361521142 | DIAPH1 | c.1796C>G (p.Pro599Arg) c.1773C>G (n.1773C>G) c.1664C>G (p.Pro555Arg) c.1769C>G (p.Pro590Arg) c.1760C>G (p.Pro587Arg) c.1730C>G (p.Pro577Arg) | |
5 | g.141574054G= | CA1587248354 | DIAPH1 | c.1796C= (p.Pro599=) c.1773C= (n.1773C=) c.1664C= (p.Pro555=) c.1769C= (p.Pro590=) c.1760C= (p.Pro587=) c.1730C= (p.Pro577=) | |
5 | g.141574054G>T | CA361521144 | DIAPH1 | c.1796C>A (p.Pro599Gln) c.1773C>A (n.1773C>A) c.1664C>A (p.Pro555Gln) c.1769C>A (p.Pro590Gln) c.1760C>A (p.Pro587Gln) c.1730C>A (p.Pro577Gln) | |
5 | g.141574055G>A | CA3479212 | DIAPH1 | c.1795C>T (p.Pro599Ser) c.1772C>T (n.1772C>T) c.1663C>T (p.Pro555Ser) c.1768C>T (p.Pro590Ser) c.1759C>T (p.Pro587Ser) c.1729C>T (p.Pro577Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574055G>C | CA361521147 | DIAPH1 | c.1795C>G (p.Pro599Ala) c.1772C>G (n.1772C>G) c.1663C>G (p.Pro555Ala) c.1768C>G (p.Pro590Ala) c.1759C>G (p.Pro587Ala) c.1729C>G (p.Pro577Ala) | |
5 | g.141574055G= | CA1587248359 | DIAPH1 | c.1795C= (p.Pro599=) c.1772C= (n.1772C=) c.1663C= (p.Pro555=) c.1768C= (p.Pro590=) c.1759C= (p.Pro587=) c.1729C= (p.Pro577=) | |
5 | g.141574055G>T | CA361521152 | DIAPH1 | c.1795C>A (p.Pro599Thr) c.1772C>A (n.1772C>A) c.1663C>A (p.Pro555Thr) c.1768C>A (p.Pro590Thr) c.1759C>A (p.Pro587Thr) c.1729C>A (p.Pro577Thr) | ClinVar |
5 | g.141574056T>A | CA447088726 | DIAPH1 | c.1794A>T (p.Pro598=) c.1771A>T (n.1771A>T) c.1662A>T (p.Pro554=) c.1767A>T (p.Pro589=) c.1758A>T (p.Pro586=) c.1728A>T (p.Pro576=) | gnomAD v3 gnomAD v4 |
5 | g.141574056T>C | CA447088728 | DIAPH1 | c.1794A>G (p.Pro598=) c.1771A>G (n.1771A>G) c.1662A>G (p.Pro554=) c.1767A>G (p.Pro589=) c.1758A>G (p.Pro586=) c.1728A>G (p.Pro576=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574056T>G | CA447088729 | DIAPH1 | c.1794A>C (p.Pro598=) c.1771A>C (n.1771A>C) c.1662A>C (p.Pro554=) c.1767A>C (p.Pro589=) c.1758A>C (p.Pro586=) c.1728A>C (p.Pro576=) | |
5 | g.141574056T= | CA1587248364 | DIAPH1 | c.1794A= (p.Pro598=) c.1771A= (n.1771A=) c.1662A= (p.Pro554=) c.1767A= (p.Pro589=) c.1758A= (p.Pro586=) c.1728A= (p.Pro576=) | |
5 | g.141574057G>A | CA361521163 | DIAPH1 | c.1793C>T (p.Pro598Leu) c.1770C>T (n.1770C>T) c.1661C>T (p.Pro554Leu) c.1766C>T (p.Pro589Leu) c.1757C>T (p.Pro586Leu) c.1727C>T (p.Pro576Leu) | COSMIC |
5 | g.141574057G>C | CA361521165 | DIAPH1 | c.1793C>G (p.Pro598Arg) c.1770C>G (n.1770C>G) c.1661C>G (p.Pro554Arg) c.1766C>G (p.Pro589Arg) c.1757C>G (p.Pro586Arg) c.1727C>G (p.Pro576Arg) | |
5 | g.141574057G>T | CA361521168 | DIAPH1 | c.1793C>A (p.Pro598Gln) c.1770C>A (n.1770C>A) c.1661C>A (p.Pro554Gln) c.1766C>A (p.Pro589Gln) c.1757C>A (p.Pro586Gln) c.1727C>A (p.Pro576Gln) | |
5 | g.141574058G>A | CA361521183 | DIAPH1 | c.1792C>T (p.Pro598Ser) c.1769C>T (n.1769C>T) c.1660C>T (p.Pro554Ser) c.1765C>T (p.Pro589Ser) c.1756C>T (p.Pro586Ser) c.1726C>T (p.Pro576Ser) | |
5 | g.141574058G>C | CA361521175 | DIAPH1 | c.1792C>G (p.Pro598Ala) c.1769C>G (n.1769C>G) c.1660C>G (p.Pro554Ala) c.1765C>G (p.Pro589Ala) c.1756C>G (p.Pro586Ala) c.1726C>G (p.Pro576Ala) | gnomAD v4 |
5 | g.141574058G>T | CA361521179 | DIAPH1 | c.1792C>A (p.Pro598Thr) c.1769C>A (n.1769C>A) c.1660C>A (p.Pro554Thr) c.1765C>A (p.Pro589Thr) c.1756C>A (p.Pro586Thr) c.1726C>A (p.Pro576Thr) | |
5 | g.141574059T>A | CA447088733 | DIAPH1 | c.1791A>T (p.Pro597=) c.1768A>T (n.1768A>T) c.1659A>T (p.Pro553=) c.1764A>T (p.Pro588=) c.1755A>T (p.Pro585=) c.1725A>T (p.Pro575=) | gnomAD v3 gnomAD v4 |
5 | g.141574059T>C | CA447088731 | DIAPH1 | c.1791A>G (p.Pro597=) c.1768A>G (n.1768A>G) c.1659A>G (p.Pro553=) c.1764A>G (p.Pro588=) c.1755A>G (p.Pro585=) c.1725A>G (p.Pro575=) | |
5 | g.141574059T>G | CA447088732 | DIAPH1 | c.1791A>C (p.Pro597=) c.1768A>C (n.1768A>C) c.1659A>C (p.Pro553=) c.1764A>C (p.Pro588=) c.1755A>C (p.Pro585=) c.1725A>C (p.Pro575=) | gnomAD v3 gnomAD v4 |
5 | g.141574060G>A | CA361521186 | DIAPH1 | c.1790C>T (p.Pro597Leu) c.1767C>T (n.1767C>T) c.1658C>T (p.Pro553Leu) c.1763C>T (p.Pro588Leu) c.1754C>T (p.Pro585Leu) c.1724C>T (p.Pro575Leu) | |
5 | g.141574060G>C | CA361521191 | DIAPH1 | c.1790C>G (p.Pro597Arg) c.1767C>G (n.1767C>G) c.1658C>G (p.Pro553Arg) c.1763C>G (p.Pro588Arg) c.1754C>G (p.Pro585Arg) c.1724C>G (p.Pro575Arg) | |
5 | g.141574060G>T | CA361521195 | DIAPH1 | c.1790C>A (p.Pro597Gln) c.1767C>A (n.1767C>A) c.1658C>A (p.Pro553Gln) c.1763C>A (p.Pro588Gln) c.1754C>A (p.Pro585Gln) c.1724C>A (p.Pro575Gln) | |
5 | g.141574061G>A | CA361521210 | DIAPH1 | c.1789C>T (p.Pro597Ser) c.1766C>T (n.1766C>T) c.1657C>T (p.Pro553Ser) c.1762C>T (p.Pro588Ser) c.1753C>T (p.Pro585Ser) c.1723C>T (p.Pro575Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.141574061G>C | CA361521211 | DIAPH1 | c.1789C>G (p.Pro597Ala) c.1766C>G (n.1766C>G) c.1657C>G (p.Pro553Ala) c.1762C>G (p.Pro588Ala) c.1753C>G (p.Pro585Ala) c.1723C>G (p.Pro575Ala) | |
5 | g.141574061G= | CA1587248367 | DIAPH1 | c.1789C= (p.Pro597=) c.1766C= (n.1766C=) c.1657C= (p.Pro553=) c.1762C= (p.Pro588=) c.1753C= (p.Pro585=) c.1723C= (p.Pro575=) | |
5 | g.141574061G>T | CA361521212 | DIAPH1 | c.1789C>A (p.Pro597Thr) c.1766C>A (n.1766C>A) c.1657C>A (p.Pro553Thr) c.1762C>A (p.Pro588Thr) c.1753C>A (p.Pro585Thr) c.1723C>A (p.Pro575Thr) | |
5 | g.141574062A>C | CA361521215 | DIAPH1 | c.1788T>G (p.Ile596Met) c.1765T>G (n.1765T>G) c.1656T>G (p.Ile552Met) c.1761T>G (p.Ile587Met) c.1752T>G (p.Ile584Met) c.1722T>G (p.Ile574Met) | |
5 | g.141574062A>G | CA447088737 | DIAPH1 | c.1788T>C (p.Ile596=) c.1765T>C (n.1765T>C) c.1656T>C (p.Ile552=) c.1761T>C (p.Ile587=) c.1752T>C (p.Ile584=) c.1722T>C (p.Ile574=) | ClinVar dbSNP gnomAD v4 |
5 | g.141574062A>T | CA447088738 | DIAPH1 | c.1788T>A (p.Ile596=) c.1765T>A (n.1765T>A) c.1656T>A (p.Ile552=) c.1761T>A (p.Ile587=) c.1752T>A (p.Ile584=) c.1722T>A (p.Ile574=) | |
5 | g.141574063A>C | CA361521219 | DIAPH1 | c.1787T>G (p.Ile596Ser) c.1764T>G (n.1764T>G) c.1655T>G (p.Ile552Ser) c.1760T>G (p.Ile587Ser) c.1751T>G (p.Ile584Ser) c.1721T>G (p.Ile574Ser) | |
5 | g.141574063A>G | CA361521221 | DIAPH1 | c.1787T>C (p.Ile596Thr) c.1764T>C (n.1764T>C) c.1655T>C (p.Ile552Thr) c.1760T>C (p.Ile587Thr) c.1751T>C (p.Ile584Thr) c.1721T>C (p.Ile574Thr) | ClinVar gnomAD v4 |
5 | g.141574063A>T | CA361521226 | DIAPH1 | c.1787T>A (p.Ile596Asn) c.1764T>A (n.1764T>A) c.1655T>A (p.Ile552Asn) c.1760T>A (p.Ile587Asn) c.1751T>A (p.Ile584Asn) c.1721T>A (p.Ile574Asn) | |
5 | g.141574064T>A | CA361521236 | DIAPH1 | c.1786A>T (p.Ile596Phe) c.1763A>T (n.1763A>T) c.1654A>T (p.Ile552Phe) c.1759A>T (p.Ile587Phe) c.1750A>T (p.Ile584Phe) c.1720A>T (p.Ile574Phe) | |
5 | g.141574064T>C | CA361521235 | DIAPH1 | c.1786A>G (p.Ile596Val) c.1763A>G (n.1763A>G) c.1654A>G (p.Ile552Val) c.1759A>G (p.Ile587Val) c.1750A>G (p.Ile584Val) c.1720A>G (p.Ile574Val) | dbSNP |
5 | g.141574064T>G | CA361521231 | DIAPH1 | c.1786A>C (p.Ile596Leu) c.1763A>C (n.1763A>C) c.1654A>C (p.Ile552Leu) c.1759A>C (p.Ile587Leu) c.1750A>C (p.Ile584Leu) c.1720A>C (p.Ile574Leu) | |
5 | g.141574064T= | CA1587248372 | DIAPH1 | c.1786A= (p.Ile596=) c.1763A= (n.1763A=) c.1654A= (p.Ile552=) c.1759A= (p.Ile587=) c.1750A= (p.Ile584=) c.1720A= (p.Ile574=) | |
5 | g.141574065A>C | CA361521237 | DIAPH1 | c.1785T>G (p.Ile595Met) c.1762T>G (n.1762T>G) c.1653T>G (p.Ile551Met) c.1758T>G (p.Ile586Met) c.1749T>G (p.Ile583Met) c.1719T>G (p.Ile573Met) | |
5 | g.141574065A>G | CA446892332 | DIAPH1 | c.1785T>C (p.Ile595=) c.1762T>C (n.1762T>C) c.1653T>C (p.Ile551=) c.1758T>C (p.Ile586=) c.1749T>C (p.Ile583=) c.1719T>C (p.Ile573=) | gnomAD v4 |
5 | g.141574065A>T | CA446892333 | DIAPH1 | c.1785T>A (p.Ile595=) c.1762T>A (n.1762T>A) c.1653T>A (p.Ile551=) c.1758T>A (p.Ile586=) c.1749T>A (p.Ile583=) c.1719T>A (p.Ile573=) | |
5 | g.141574066A= | CA1587248375 | DIAPH1 | c.1784T= (p.Ile595=) c.1761T= (n.1761T=) c.1652T= (p.Ile551=) c.1757T= (p.Ile586=) c.1748T= (p.Ile583=) c.1718T= (p.Ile573=) | |
5 | g.141574066A>C | CA361521238 | DIAPH1 | c.1784T>G (p.Ile595Ser) c.1761T>G (n.1761T>G) c.1652T>G (p.Ile551Ser) c.1757T>G (p.Ile586Ser) c.1748T>G (p.Ile583Ser) c.1718T>G (p.Ile573Ser) | ClinVar gnomAD v4 |
5 | g.141574066A>G | CA3479213 | DIAPH1 | c.1784T>C (p.Ile595Thr) c.1761T>C (n.1761T>C) c.1652T>C (p.Ile551Thr) c.1757T>C (p.Ile586Thr) c.1748T>C (p.Ile583Thr) c.1718T>C (p.Ile573Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574066A>T | CA361521242 | DIAPH1 | c.1784T>A (p.Ile595Asn) c.1761T>A (n.1761T>A) c.1652T>A (p.Ile551Asn) c.1757T>A (p.Ile586Asn) c.1748T>A (p.Ile583Asn) c.1718T>A (p.Ile573Asn) | |
5 | g.141574067T>A | CA361521243 | DIAPH1 | c.1783A>T (p.Ile595Phe) c.1760A>T (n.1760A>T) c.1651A>T (p.Ile551Phe) c.1756A>T (p.Ile586Phe) c.1747A>T (p.Ile583Phe) c.1717A>T (p.Ile573Phe) | |
5 | g.141574067T>C | CA128437363 | DIAPH1 | c.1783A>G (p.Ile595Val) c.1760A>G (n.1760A>G) c.1651A>G (p.Ile551Val) c.1756A>G (p.Ile586Val) c.1747A>G (p.Ile583Val) c.1717A>G (p.Ile573Val) | dbSNP gnomAD v4 |
5 | g.141574067T>G | CA361521244 | DIAPH1 | c.1783A>C (p.Ile595Leu) c.1760A>C (n.1760A>C) c.1651A>C (p.Ile551Leu) c.1756A>C (p.Ile586Leu) c.1747A>C (p.Ile583Leu) c.1717A>C (p.Ile573Leu) | |
5 | g.141574067T= | CA1587248378 | DIAPH1 | c.1783A= (p.Ile595=) c.1760A= (n.1760A=) c.1651A= (p.Ile551=) c.1756A= (p.Ile586=) c.1747A= (p.Ile583=) c.1717A= (p.Ile573=) | |
5 | g.141574068A>C | CA446892335 | DIAPH1 | c.1782T>G (p.Thr594=) c.1759T>G (n.1759T>G) c.1650T>G (p.Thr550=) c.1755T>G (p.Thr585=) c.1746T>G (p.Thr582=) c.1716T>G (p.Thr572=) | |
5 | g.141574068A>G | CA446892336 | DIAPH1 | c.1782T>C (p.Thr594=) c.1759T>C (n.1759T>C) c.1650T>C (p.Thr550=) c.1755T>C (p.Thr585=) c.1746T>C (p.Thr582=) c.1716T>C (p.Thr572=) | |
5 | g.141574068A>T | CA446892337 | DIAPH1 | c.1782T>A (p.Thr594=) c.1759T>A (n.1759T>A) c.1650T>A (p.Thr550=) c.1755T>A (p.Thr585=) c.1746T>A (p.Thr582=) c.1716T>A (p.Thr572=) | |
5 | g.141574069G>A | CA361521248 | DIAPH1 | c.1781C>T (p.Thr594Ile) c.1758C>T (n.1758C>T) c.1649C>T (p.Thr550Ile) c.1754C>T (p.Thr585Ile) c.1745C>T (p.Thr582Ile) c.1715C>T (p.Thr572Ile) | ClinVar dbSNP |
5 | g.141574069G>C | CA361521253 | DIAPH1 | c.1781C>G (p.Thr594Ser) c.1758C>G (n.1758C>G) c.1649C>G (p.Thr550Ser) c.1754C>G (p.Thr585Ser) c.1745C>G (p.Thr582Ser) c.1715C>G (p.Thr572Ser) | |
5 | g.141574069G= | CA1587248381 | DIAPH1 | c.1781C= (p.Thr594=) c.1758C= (n.1758C=) c.1649C= (p.Thr550=) c.1754C= (p.Thr585=) c.1745C= (p.Thr582=) c.1715C= (p.Thr572=) | |
5 | g.141574069G>T | CA361521254 | DIAPH1 | c.1781C>A (p.Thr594Asn) c.1758C>A (n.1758C>A) c.1649C>A (p.Thr550Asn) c.1754C>A (p.Thr585Asn) c.1745C>A (p.Thr582Asn) c.1715C>A (p.Thr572Asn) | ClinVar gnomAD v4 |
5 | g.141574070T>A | CA361521259 | DIAPH1 | c.1780A>T (p.Thr594Ser) c.1757A>T (n.1757A>T) c.1648A>T (p.Thr550Ser) c.1753A>T (p.Thr585Ser) c.1744A>T (p.Thr582Ser) c.1714A>T (p.Thr572Ser) | |
5 | g.141574070T>C | CA361521263 | DIAPH1 | c.1780A>G (p.Thr594Ala) c.1757A>G (n.1757A>G) c.1648A>G (p.Thr550Ala) c.1753A>G (p.Thr585Ala) c.1744A>G (p.Thr582Ala) c.1714A>G (p.Thr572Ala) | dbSNP |
5 | g.141574070T>G | CA361521268 | DIAPH1 | c.1780A>C (p.Thr594Pro) c.1757A>C (n.1757A>C) c.1648A>C (p.Thr550Pro) c.1753A>C (p.Thr585Pro) c.1744A>C (p.Thr582Pro) c.1714A>C (p.Thr572Pro) | |
5 | g.141574070T= | CA1587248383 | DIAPH1 | c.1780A= (p.Thr594=) c.1757A= (n.1757A=) c.1648A= (p.Thr550=) c.1753A= (p.Thr585=) c.1744A= (p.Thr582=) c.1714A= (p.Thr572=) | |
5 | g.141574071G>A | CA446892338 | DIAPH1 | c.1779C>T (p.Gly593=) c.1756C>T (n.1756C>T) c.1647C>T (p.Gly549=) c.1752C>T (p.Gly584=) c.1743C>T (p.Gly581=) c.1713C>T (p.Gly571=) | ClinVar gnomAD v4 |
5 | g.141574071G>C | CA446892339 | DIAPH1 | c.1779C>G (p.Gly593=) c.1756C>G (n.1756C>G) c.1647C>G (p.Gly549=) c.1752C>G (p.Gly584=) c.1743C>G (p.Gly581=) c.1713C>G (p.Gly571=) | |
5 | g.141574071G>T | CA446892340 | DIAPH1 | c.1779C>A (p.Gly593=) c.1756C>A (n.1756C>A) c.1647C>A (p.Gly549=) c.1752C>A (p.Gly584=) c.1743C>A (p.Gly581=) c.1713C>A (p.Gly571=) | |
5 | g.141574072C>A | CA361521285 | DIAPH1 | c.1778G>T (p.Gly593Val) c.1755G>T (n.1755G>T) c.1646G>T (p.Gly549Val) c.1751G>T (p.Gly584Val) c.1742G>T (p.Gly581Val) c.1712G>T (p.Gly571Val) | gnomAD v4 |
5 | g.141574072C>G | CA361521273 | DIAPH1 | c.1778G>C (p.Gly593Ala) c.1755G>C (n.1755G>C) c.1646G>C (p.Gly549Ala) c.1751G>C (p.Gly584Ala) c.1742G>C (p.Gly581Ala) c.1712G>C (p.Gly571Ala) | |
5 | g.141574072C>T | CA361521282 | DIAPH1 | c.1778G>A (p.Gly593Asp) c.1755G>A (n.1755G>A) c.1646G>A (p.Gly549Asp) c.1751G>A (p.Gly584Asp) c.1742G>A (p.Gly581Asp) c.1712G>A (p.Gly571Asp) | |
5 | g.141574073C>A | CA361521288 | DIAPH1 | c.1777G>T (p.Gly593Cys) c.1754G>T (n.1754G>T) c.1645G>T (p.Gly549Cys) c.1750G>T (p.Gly584Cys) c.1741G>T (p.Gly581Cys) c.1711G>T (p.Gly571Cys) | |
5 | g.141574073C>G | CA361521296 | DIAPH1 | c.1777G>C (p.Gly593Arg) c.1754G>C (n.1754G>C) c.1645G>C (p.Gly549Arg) c.1750G>C (p.Gly584Arg) c.1741G>C (p.Gly581Arg) c.1711G>C (p.Gly571Arg) | |
5 | g.141574073C>T | CA361521299 | DIAPH1 | c.1777G>A (p.Gly593Ser) c.1754G>A (n.1754G>A) c.1645G>A (p.Gly549Ser) c.1750G>A (p.Gly584Ser) c.1741G>A (p.Gly581Ser) c.1711G>A (p.Gly571Ser) | |
5 | g.141574074A>C | CA446892343 | DIAPH1 | c.1776T>G (p.Ser592=) c.1753T>G (n.1753T>G) c.1644T>G (p.Ser548=) c.1749T>G (p.Ser583=) c.1740T>G (p.Ser580=) c.1710T>G (p.Ser570=) | gnomAD v4 |
5 | g.141574074A>G | CA446892345 | DIAPH1 | c.1776T>C (p.Ser592=) c.1753T>C (n.1753T>C) c.1644T>C (p.Ser548=) c.1749T>C (p.Ser583=) c.1740T>C (p.Ser580=) c.1710T>C (p.Ser570=) | gnomAD v4 |
5 | g.141574074A>T | CA446892346 | DIAPH1 | c.1776T>A (p.Ser592=) c.1753T>A (n.1753T>A) c.1644T>A (p.Ser548=) c.1749T>A (p.Ser583=) c.1740T>A (p.Ser580=) c.1710T>A (p.Ser570=) | |
5 | g.141574075G>A | CA361521304 | DIAPH1 | c.1775C>T (p.Ser592Phe) c.1752C>T (n.1752C>T) c.1643C>T (p.Ser548Phe) c.1748C>T (p.Ser583Phe) c.1739C>T (p.Ser580Phe) c.1709C>T (p.Ser570Phe) | |
5 | g.141574075G>C | CA361521307 | DIAPH1 | c.1775C>G (p.Ser592Cys) c.1752C>G (n.1752C>G) c.1643C>G (p.Ser548Cys) c.1748C>G (p.Ser583Cys) c.1739C>G (p.Ser580Cys) c.1709C>G (p.Ser570Cys) | |
5 | g.141574075G>T | CA361521310 | DIAPH1 | c.1775C>A (p.Ser592Tyr) c.1752C>A (n.1752C>A) c.1643C>A (p.Ser548Tyr) c.1748C>A (p.Ser583Tyr) c.1739C>A (p.Ser580Tyr) c.1709C>A (p.Ser570Tyr) | |
5 | g.141574076A>C | CA361521317 | DIAPH1 | c.1774T>G (p.Ser592Ala) c.1751T>G (n.1751T>G) c.1642T>G (p.Ser548Ala) c.1747T>G (p.Ser583Ala) c.1738T>G (p.Ser580Ala) c.1708T>G (p.Ser570Ala) | |
5 | g.141574076A>G | CA361521320 | DIAPH1 | c.1774T>C (p.Ser592Pro) c.1751T>C (n.1751T>C) c.1642T>C (p.Ser548Pro) c.1747T>C (p.Ser583Pro) c.1738T>C (p.Ser580Pro) c.1708T>C (p.Ser570Pro) | |
5 | g.141574076A>T | CA361521326 | DIAPH1 | c.1774T>A (p.Ser592Thr) c.1751T>A (n.1751T>A) c.1642T>A (p.Ser548Thr) c.1747T>A (p.Ser583Thr) c.1738T>A (p.Ser580Thr) c.1708T>A (p.Ser570Thr) | |
5 | g.141574077G>A | CA446892348 | DIAPH1 | c.1773C>T (p.Asp591=) c.1750C>T (n.1750C>T) c.1641C>T (p.Asp547=) c.1746C>T (p.Asp582=) c.1737C>T (p.Asp579=) c.1707C>T (p.Asp569=) | gnomAD v4 |
5 | g.141574077G>C | CA361521331 | DIAPH1 | c.1773C>G (p.Asp591Glu) c.1750C>G (n.1750C>G) c.1641C>G (p.Asp547Glu) c.1746C>G (p.Asp582Glu) c.1737C>G (p.Asp579Glu) c.1707C>G (p.Asp569Glu) | |
5 | g.141574077G>T | CA361521333 | DIAPH1 | c.1773C>A (p.Asp591Glu) c.1750C>A (n.1750C>A) c.1641C>A (p.Asp547Glu) c.1746C>A (p.Asp582Glu) c.1737C>A (p.Asp579Glu) c.1707C>A (p.Asp569Glu) | |
5 | g.141574078T>A | CA361521348 | DIAPH1 | c.1772A>T (p.Asp591Val) c.1749A>T (n.1749A>T) c.1640A>T (p.Asp547Val) c.1745A>T (p.Asp582Val) c.1736A>T (p.Asp579Val) c.1706A>T (p.Asp569Val) | |
5 | g.141574078T>C | CA361521339 | DIAPH1 | c.1772A>G (p.Asp591Gly) c.1749A>G (n.1749A>G) c.1640A>G (p.Asp547Gly) c.1745A>G (p.Asp582Gly) c.1736A>G (p.Asp579Gly) c.1706A>G (p.Asp569Gly) | |
5 | g.141574078T>G | CA361521336 | DIAPH1 | c.1772A>C (p.Asp591Ala) c.1749A>C (n.1749A>C) c.1640A>C (p.Asp547Ala) c.1745A>C (p.Asp582Ala) c.1736A>C (p.Asp579Ala) c.1706A>C (p.Asp569Ala) | gnomAD v3 gnomAD v4 |
5 | g.141574079C>A | CA361521353 | DIAPH1 | c.1771G>T (p.Asp591Tyr) c.1748G>T (n.1748G>T) c.1639G>T (p.Asp547Tyr) c.1744G>T (p.Asp582Tyr) c.1735G>T (p.Asp579Tyr) c.1705G>T (p.Asp569Tyr) | |
5 | g.141574079C= | CA1587248386 | DIAPH1 | c.1771G= (p.Asp591=) c.1748G= (n.1748G=) c.1639G= (p.Asp547=) c.1744G= (p.Asp582=) c.1735G= (p.Asp579=) c.1705G= (p.Asp569=) | |
5 | g.141574079C>G | CA361521360 | DIAPH1 | c.1771G>C (p.Asp591His) c.1748G>C (n.1748G>C) c.1639G>C (p.Asp547His) c.1744G>C (p.Asp582His) c.1735G>C (p.Asp579His) c.1705G>C (p.Asp569His) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.141574079C>T | CA361521356 | DIAPH1 | c.1771G>A (p.Asp591Asn) c.1748G>A (n.1748G>A) c.1639G>A (p.Asp547Asn) c.1744G>A (p.Asp582Asn) c.1735G>A (p.Asp579Asn) c.1705G>A (p.Asp569Asn) | |
5 | g.141574080A>C | CA446892350 | DIAPH1 | c.1770T>G (p.Gly590=) c.1747T>G (n.1747T>G) c.1638T>G (p.Gly546=) c.1743T>G (p.Gly581=) c.1734T>G (p.Gly578=) c.1704T>G (p.Gly568=) | |
5 | g.141574080A>G | CA446892352 | DIAPH1 | c.1770T>C (p.Gly590=) c.1747T>C (n.1747T>C) c.1638T>C (p.Gly546=) c.1743T>C (p.Gly581=) c.1734T>C (p.Gly578=) c.1704T>C (p.Gly568=) | |
5 | g.141574080A>T | CA446892351 | DIAPH1 | c.1770T>A (p.Gly590=) c.1747T>A (n.1747T>A) c.1638T>A (p.Gly546=) c.1743T>A (p.Gly581=) c.1734T>A (p.Gly578=) c.1704T>A (p.Gly568=) | |
5 | g.141574081C>A | CA3479214 | DIAPH1 | c.1769G>T (p.Gly590Val) c.1746G>T (n.1746G>T) c.1637G>T (p.Gly546Val) c.1742G>T (p.Gly581Val) c.1733G>T (p.Gly578Val) c.1703G>T (p.Gly568Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574081C= | CA1587248395 | DIAPH1 | c.1769G= (p.Gly590=) c.1746G= (n.1746G=) c.1637G= (p.Gly546=) c.1742G= (p.Gly581=) c.1733G= (p.Gly578=) c.1703G= (p.Gly568=) | |
5 | g.141574081C>G | CA361521368 | DIAPH1 | c.1769G>C (p.Gly590Ala) c.1746G>C (n.1746G>C) c.1637G>C (p.Gly546Ala) c.1742G>C (p.Gly581Ala) c.1733G>C (p.Gly578Ala) c.1703G>C (p.Gly568Ala) | ClinVar gnomAD v4 |
5 | g.141574081C>T | CA3479215 | DIAPH1 | c.1769G>A (p.Gly590Asp) c.1746G>A (n.1746G>A) c.1637G>A (p.Gly546Asp) c.1742G>A (p.Gly581Asp) c.1733G>A (p.Gly578Asp) c.1703G>A (p.Gly568Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574082C>A | CA361521371 | DIAPH1 | c.1768G>T (p.Gly590Cys) c.1745G>T (n.1745G>T) c.1636G>T (p.Gly546Cys) c.1741G>T (p.Gly581Cys) c.1732G>T (p.Gly578Cys) c.1702G>T (p.Gly568Cys) | |
5 | g.141574082C= | CA1587248399 | DIAPH1 | c.1768G= (p.Gly590=) c.1745G= (n.1745G=) c.1636G= (p.Gly546=) c.1741G= (p.Gly581=) c.1732G= (p.Gly578=) c.1702G= (p.Gly568=) | |
5 | g.141574082C>G | CA361521377 | DIAPH1 | c.1768G>C (p.Gly590Arg) c.1745G>C (n.1745G>C) c.1636G>C (p.Gly546Arg) c.1741G>C (p.Gly581Arg) c.1732G>C (p.Gly578Arg) c.1702G>C (p.Gly568Arg) | |
5 | g.141574082C>T | CA361521374 | DIAPH1 | c.1768G>A (p.Gly590Ser) c.1745G>A (n.1745G>A) c.1636G>A (p.Gly546Ser) c.1741G>A (p.Gly581Ser) c.1732G>A (p.Gly578Ser) c.1702G>A (p.Gly568Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.141574083A>C | CA446892353 | DIAPH1 | c.1767T>G (p.Pro589=) c.1744T>G (n.1744T>G) c.1635T>G (p.Pro545=) c.1740T>G (p.Pro580=) c.1731T>G (p.Pro577=) c.1701T>G (p.Pro567=) | |
5 | g.141574083A>G | CA446892354 | DIAPH1 | c.1767T>C (p.Pro589=) c.1744T>C (n.1744T>C) c.1635T>C (p.Pro545=) c.1740T>C (p.Pro580=) c.1731T>C (p.Pro577=) c.1701T>C (p.Pro567=) | |
5 | g.141574083A>T | CA446892356 | DIAPH1 | c.1767T>A (p.Pro589=) c.1744T>A (n.1744T>A) c.1635T>A (p.Pro545=) c.1740T>A (p.Pro580=) c.1731T>A (p.Pro577=) c.1701T>A (p.Pro567=) | |
5 | g.141574084_141574087del | CA2675691852 | DIAPH1 | c.1764_1767del (p.Pro589ValfsTer?) c.1741_1744del (n.1741_1744del) c.1632_1635del (p.Pro545ValfsTer?) c.1737_1740del (p.Pro580ValfsTer?) c.1728_1731del (p.Pro577ValfsTer?) c.1698_1701del (p.Pro567ValfsTer?) | gnomAD v4 |
5 | g.141574084G>A | CA361521380 | DIAPH1 | c.1766C>T (p.Pro589Leu) c.1743C>T (n.1743C>T) c.1634C>T (p.Pro545Leu) c.1739C>T (p.Pro580Leu) c.1730C>T (p.Pro577Leu) c.1700C>T (p.Pro567Leu) | ClinVar dbSNP gnomAD v4 |
5 | g.141574084G>C | CA128437366 | DIAPH1 | c.1766C>G (p.Pro589Arg) c.1743C>G (n.1743C>G) c.1634C>G (p.Pro545Arg) c.1739C>G (p.Pro580Arg) c.1730C>G (p.Pro577Arg) c.1700C>G (p.Pro567Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574084G= | CA1587248405 | DIAPH1 | c.1766C= (p.Pro589=) c.1743C= (n.1743C=) c.1634C= (p.Pro545=) c.1739C= (p.Pro580=) c.1730C= (p.Pro577=) c.1700C= (p.Pro567=) | |
5 | g.141574084G>T | CA361521386 | DIAPH1 | c.1766C>A (p.Pro589His) c.1743C>A (n.1743C>A) c.1634C>A (p.Pro545His) c.1739C>A (p.Pro580His) c.1730C>A (p.Pro577His) c.1700C>A (p.Pro567His) | |
5 | g.141574085G>A | CA361521391 | DIAPH1 | c.1765C>T (p.Pro589Ser) c.1742C>T (n.1742C>T) c.1633C>T (p.Pro545Ser) c.1738C>T (p.Pro580Ser) c.1729C>T (p.Pro577Ser) c.1699C>T (p.Pro567Ser) | |
5 | g.141574085G>C | CA361521392 | DIAPH1 | c.1765C>G (p.Pro589Ala) c.1742C>G (n.1742C>G) c.1633C>G (p.Pro545Ala) c.1738C>G (p.Pro580Ala) c.1729C>G (p.Pro577Ala) c.1699C>G (p.Pro567Ala) | |
5 | g.141574085G>T | CA361521393 | DIAPH1 | c.1765C>A (p.Pro589Thr) c.1742C>A (n.1742C>A) c.1633C>A (p.Pro545Thr) c.1738C>A (p.Pro580Thr) c.1729C>A (p.Pro577Thr) c.1699C>A (p.Pro567Thr) | gnomAD v4 |
5 | g.141574086T>A | CA361521395 | DIAPH1 | c.1764A>T (p.Leu588Phe) c.1741A>T (n.1741A>T) c.1632A>T (p.Leu544Phe) c.1737A>T (p.Leu579Phe) c.1728A>T (p.Leu576Phe) c.1698A>T (p.Leu566Phe) | |
5 | g.141574086T>C | CA446892359 | DIAPH1 | c.1764A>G (p.Leu588=) c.1741A>G (n.1741A>G) c.1632A>G (p.Leu544=) c.1737A>G (p.Leu579=) c.1728A>G (p.Leu576=) c.1698A>G (p.Leu566=) | |
5 | g.141574086T>G | CA361521398 | DIAPH1 | c.1764A>C (p.Leu588Phe) c.1741A>C (n.1741A>C) c.1632A>C (p.Leu544Phe) c.1737A>C (p.Leu579Phe) c.1728A>C (p.Leu576Phe) c.1698A>C (p.Leu566Phe) | |
5 | g.141574087A>C | CA361521406 | DIAPH1 | c.1763T>G (p.Leu588Ter) c.1740T>G (n.1740T>G) c.1631T>G (p.Leu544Ter) c.1736T>G (p.Leu579Ter) c.1727T>G (p.Leu576Ter) c.1697T>G (p.Leu566Ter) | |
5 | g.141574087A>G | CA361521418 | DIAPH1 | c.1763T>C (p.Leu588Ser) c.1740T>C (n.1740T>C) c.1631T>C (p.Leu544Ser) c.1736T>C (p.Leu579Ser) c.1727T>C (p.Leu576Ser) c.1697T>C (p.Leu566Ser) | |
5 | g.141574087A>T | CA361521422 | DIAPH1 | c.1763T>A (p.Leu588Ter) c.1740T>A (n.1740T>A) c.1631T>A (p.Leu544Ter) c.1736T>A (p.Leu579Ter) c.1727T>A (p.Leu576Ter) c.1697T>A (p.Leu566Ter) | |
5 | g.141574088A= | CA1587248410 | DIAPH1 | c.1762T= (p.Leu588=) c.1739T= (n.1739T=) c.1630T= (p.Leu544=) c.1735T= (p.Leu579=) c.1726T= (p.Leu576=) c.1696T= (p.Leu566=) | |
5 | g.141574088A>C | CA361521425 | DIAPH1 | c.1762T>G (p.Leu588Val) c.1739T>G (n.1739T>G) c.1630T>G (p.Leu544Val) c.1735T>G (p.Leu579Val) c.1726T>G (p.Leu576Val) c.1696T>G (p.Leu566Val) | |
5 | g.141574088A>G | CA446892361 | DIAPH1 | c.1762T>C (p.Leu588=) c.1739T>C (n.1739T>C) c.1630T>C (p.Leu544=) c.1735T>C (p.Leu579=) c.1726T>C (p.Leu576=) c.1696T>C (p.Leu566=) | |
5 | g.141574088A>T | CA3479216 | DIAPH1 | c.1762T>A (p.Leu588Ile) c.1739T>A (n.1739T>A) c.1630T>A (p.Leu544Ile) c.1735T>A (p.Leu579Ile) c.1726T>A (p.Leu576Ile) c.1696T>A (p.Leu566Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.141574089A>C | CA446892362 | DIAPH1 | c.1761T>G (p.Pro587=) c.1738T>G (n.1738T>G) c.1629T>G (p.Pro543=) c.1734T>G (p.Pro578=) c.1725T>G (p.Pro575=) c.1695T>G (p.Pro565=) | |
5 | g.141574089A>G | CA446892363 | DIAPH1 | c.1761T>C (p.Pro587=) c.1738T>C (n.1738T>C) c.1629T>C (p.Pro543=) c.1734T>C (p.Pro578=) c.1725T>C (p.Pro575=) c.1695T>C (p.Pro565=) | |
5 | g.141574089A>T | CA446892364 | DIAPH1 | c.1761T>A (p.Pro587=) c.1738T>A (n.1738T>A) c.1629T>A (p.Pro543=) c.1734T>A (p.Pro578=) c.1725T>A (p.Pro575=) c.1695T>A (p.Pro565=) | |
5 | g.141574090G>A | CA361521435 | DIAPH1 | c.1760C>T (p.Pro587Leu) c.1737C>T (n.1737C>T) c.1628C>T (p.Pro543Leu) c.1733C>T (p.Pro578Leu) c.1724C>T (p.Pro575Leu) c.1694C>T (p.Pro565Leu) | dbSNP gnomAD v4 |
5 | g.141574090G>C | CA361521437 | DIAPH1 | c.1760C>G (p.Pro587Arg) c.1737C>G (n.1737C>G) c.1628C>G (p.Pro543Arg) c.1733C>G (p.Pro578Arg) c.1724C>G (p.Pro575Arg) c.1694C>G (p.Pro565Arg) | |
5 | g.141574090G= | CA1587248413 | DIAPH1 | c.1760C= (p.Pro587=) c.1737C= (n.1737C=) c.1628C= (p.Pro543=) c.1733C= (p.Pro578=) c.1724C= (p.Pro575=) c.1694C= (p.Pro565=) | |
5 | g.141574090G>T | CA361521440 | DIAPH1 | c.1760C>A (p.Pro587His) c.1737C>A (n.1737C>A) c.1628C>A (p.Pro543His) c.1733C>A (p.Pro578His) c.1724C>A (p.Pro575His) c.1694C>A (p.Pro565His) | |
5 | g.141574091G>A | CA361521444 | DIAPH1 | c.1759C>T (p.Pro587Ser) c.1736C>T (n.1736C>T) c.1627C>T (p.Pro543Ser) c.1732C>T (p.Pro578Ser) c.1723C>T (p.Pro575Ser) c.1693C>T (p.Pro565Ser) | |
5 | g.141574091G>C | CA361521447 | DIAPH1 | c.1759C>G (p.Pro587Ala) c.1736C>G (n.1736C>G) c.1627C>G (p.Pro543Ala) c.1732C>G (p.Pro578Ala) c.1723C>G (p.Pro575Ala) c.1693C>G (p.Pro565Ala) | |
5 | g.141574091G>T | CA361521450 | DIAPH1 | c.1759C>A (p.Pro587Thr) c.1736C>A (n.1736C>A) c.1627C>A (p.Pro543Thr) c.1732C>A (p.Pro578Thr) c.1723C>A (p.Pro575Thr) c.1693C>A (p.Pro565Thr) | |
5 | g.141574092A>C | CA446892366 | DIAPH1 | c.1758T>G (p.Pro586=) c.1735T>G (n.1735T>G) c.1626T>G (p.Pro542=) c.1731T>G (p.Pro577=) c.1722T>G (p.Pro574=) c.1692T>G (p.Pro564=) | |
5 | g.141574092A>G | CA446892368 | DIAPH1 | c.1758T>C (p.Pro586=) c.1735T>C (n.1735T>C) c.1626T>C (p.Pro542=) c.1731T>C (p.Pro577=) c.1722T>C (p.Pro574=) c.1692T>C (p.Pro564=) | |
5 | g.141574092A>T | CA446892367 | DIAPH1 | c.1758T>A (p.Pro586=) c.1735T>A (n.1735T>A) c.1626T>A (p.Pro542=) c.1731T>A (p.Pro577=) c.1722T>A (p.Pro574=) c.1692T>A (p.Pro564=) | |
5 | g.141574093G>A | CA361521455 | DIAPH1 | c.1757C>T (p.Pro586Leu) c.1734C>T (n.1734C>T) c.1625C>T (p.Pro542Leu) c.1730C>T (p.Pro577Leu) c.1721C>T (p.Pro574Leu) c.1691C>T (p.Pro564Leu) | ClinVar dbSNP gnomAD v4 |
5 | g.141574093G>C | CA361521460 | DIAPH1 | c.1757C>G (p.Pro586Arg) c.1734C>G (n.1734C>G) c.1625C>G (p.Pro542Arg) c.1730C>G (p.Pro577Arg) c.1721C>G (p.Pro574Arg) c.1691C>G (p.Pro564Arg) | |
5 | g.141574093G= | CA1587248419 | DIAPH1 | c.1757C= (p.Pro586=) c.1734C= (n.1734C=) c.1625C= (p.Pro542=) c.1730C= (p.Pro577=) c.1721C= (p.Pro574=) c.1691C= (p.Pro564=) | |
5 | g.141574093G>T | CA361521457 | DIAPH1 | c.1757C>A (p.Pro586His) c.1734C>A (n.1734C>A) c.1625C>A (p.Pro542His) c.1730C>A (p.Pro577His) c.1721C>A (p.Pro574His) c.1691C>A (p.Pro564His) | COSMIC |
5 | g.141574094G>A | CA3479217 | DIAPH1 | c.1756C>T (p.Pro586Ser) c.1733C>T (n.1733C>T) c.1624C>T (p.Pro542Ser) c.1729C>T (p.Pro577Ser) c.1720C>T (p.Pro574Ser) c.1690C>T (p.Pro564Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.141574094G>C | CA361521468 | DIAPH1 | c.1756C>G (p.Pro586Ala) c.1733C>G (n.1733C>G) c.1624C>G (p.Pro542Ala) c.1729C>G (p.Pro577Ala) c.1720C>G (p.Pro574Ala) c.1690C>G (p.Pro564Ala) | |
5 | g.141574094G= | CA1587248426 | DIAPH1 | c.1756C= (p.Pro586=) c.1733C= (n.1733C=) c.1624C= (p.Pro542=) c.1729C= (p.Pro577=) c.1720C= (p.Pro574=) c.1690C= (p.Pro564=) | |
5 | g.141574094G>T | CA361521471 | DIAPH1 | c.1756C>A (p.Pro586Thr) c.1733C>A (n.1733C>A) c.1624C>A (p.Pro542Thr) c.1729C>A (p.Pro577Thr) c.1720C>A (p.Pro574Thr) c.1690C>A (p.Pro564Thr) | |
5 | g.141574095G>A | CA446892371 | DIAPH1 | c.1755C>T (p.Ala585=) c.1732C>T (n.1732C>T) c.1623C>T (p.Ala541=) c.1728C>T (p.Ala576=) c.1719C>T (p.Ala573=) c.1689C>T (p.Ala563=) | ClinVar dbSNP |
5 | g.141574095G>C | CA446892372 | DIAPH1 | c.1755C>G (p.Ala585=) c.1732C>G (n.1732C>G) c.1623C>G (p.Ala541=) c.1728C>G (p.Ala576=) c.1719C>G (p.Ala573=) c.1689C>G (p.Ala563=) | |
5 | g.141574095G= | CA1587248433 | DIAPH1 | c.1755C= (p.Ala585=) c.1732C= (n.1732C=) c.1623C= (p.Ala541=) c.1728C= (p.Ala576=) c.1719C= (p.Ala573=) c.1689C= (p.Ala563=) | |
5 | g.141574095G>T | CA446892373 | DIAPH1 | c.1755C>A (p.Ala585=) c.1732C>A (n.1732C>A) c.1623C>A (p.Ala541=) c.1728C>A (p.Ala576=) c.1719C>A (p.Ala573=) c.1689C>A (p.Ala563=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.141574096G>A | CA361521474 | DIAPH1 | c.1754C>T (p.Ala585Val) c.1731C>T (n.1731C>T) c.1622C>T (p.Ala541Val) c.1727C>T (p.Ala576Val) c.1718C>T (p.Ala573Val) c.1688C>T (p.Ala563Val) | |
5 | g.141574096G>C | CA361521477 | DIAPH1 | c.1754C>G (p.Ala585Gly) c.1731C>G (n.1731C>G) c.1622C>G (p.Ala541Gly) c.1727C>G (p.Ala576Gly) c.1718C>G (p.Ala573Gly) c.1688C>G (p.Ala563Gly) | |
5 | g.141574096G>T | CA361521483 | DIAPH1 | c.1754C>A (p.Ala585Asp) c.1731C>A (n.1731C>A) c.1622C>A (p.Ala541Asp) c.1727C>A (p.Ala576Asp) c.1718C>A (p.Ala573Asp) c.1688C>A (p.Ala563Asp) | |
5 | g.141574097C>A | CA361521490 | DIAPH1 | c.1753G>T (p.Ala585Ser) c.1730G>T (n.1730G>T) c.1621G>T (p.Ala541Ser) c.1726G>T (p.Ala576Ser) c.1717G>T (p.Ala573Ser) c.1687G>T (p.Ala563Ser) | gnomAD v4 |
5 | g.141574097C= | CA1587248440 | DIAPH1 | c.1753G= (p.Ala585=) c.1730G= (n.1730G=) c.1621G= (p.Ala541=) c.1726G= (p.Ala576=) c.1717G= (p.Ala573=) c.1687G= (p.Ala563=) | |
5 | g.141574097C>G | CA3479218 | DIAPH1 | c.1753G>C (p.Ala585Pro) c.1730G>C (n.1730G>C) c.1621G>C (p.Ala541Pro) c.1726G>C (p.Ala576Pro) c.1717G>C (p.Ala573Pro) c.1687G>C (p.Ala563Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.141574097C>T | CA361521508 | DIAPH1 | c.1753G>A (p.Ala585Thr) c.1730G>A (n.1730G>A) c.1621G>A (p.Ala541Thr) c.1726G>A (p.Ala576Thr) c.1717G>A (p.Ala573Thr) c.1687G>A (p.Ala563Thr) | gnomAD v4 |
5 | g.141574098del | CA2675691856 | DIAPH1 | c.1752del (p.Ala585ProfsTer?) c.1729del (n.1729del) c.1620del (p.Ala541ProfsTer?) c.1725del (p.Ala576ProfsTer?) c.1716del (p.Ala573ProfsTer?) c.1686del (p.Ala563ProfsTer?) | gnomAD v4 |
5 | g.141574098A>C | CA446892374 | DIAPH1 | c.1752T>G (p.Pro584=) c.1729T>G (n.1729T>G) c.1620T>G (p.Pro540=) c.1725T>G (p.Pro575=) c.1716T>G (p.Pro572=) c.1686T>G (p.Pro562=) | |
5 | g.141574098A>G | CA446892375 | DIAPH1 | c.1752T>C (p.Pro584=) c.1729T>C (n.1729T>C) c.1620T>C (p.Pro540=) c.1725T>C (p.Pro575=) c.1716T>C (p.Pro572=) c.1686T>C (p.Pro562=) | |
5 | g.141574098A>T | CA446892376 | DIAPH1 | c.1752T>A (p.Pro584=) c.1729T>A (n.1729T>A) c.1620T>A (p.Pro540=) c.1725T>A (p.Pro575=) c.1716T>A (p.Pro572=) c.1686T>A (p.Pro562=) | |
5 | g.141574098_141574101delinsAGGG | CA1587248448 | DIAPH1 | c.1749_1752delinsCCCT (p.Pro583=) c.1726_1729delinsCCCT (n.1726_1729delinsCCCT) c.1617_1620delinsCCCT (p.Pro539=) c.1722_1725delinsCCCT (p.Pro574=) c.1713_1716delinsCCCT (p.Pro571=) c.1683_1686delinsCCCT (p.Pro561=) | |
5 | g.141574099G>A | CA361521512 | DIAPH1 | c.1751C>T (p.Pro584Leu) c.1728C>T (n.1728C>T) c.1619C>T (p.Pro540Leu) c.1724C>T (p.Pro575Leu) c.1715C>T (p.Pro572Leu) c.1685C>T (p.Pro562Leu) | gnomAD v4 |
5 | g.141574099G>C | CA361521513 | DIAPH1 | c.1751C>G (p.Pro584Arg) c.1728C>G (n.1728C>G) c.1619C>G (p.Pro540Arg) c.1724C>G (p.Pro575Arg) c.1715C>G (p.Pro572Arg) c.1685C>G (p.Pro562Arg) | |
5 | g.141574099G>T | CA361521518 | DIAPH1 | c.1751C>A (p.Pro584His) c.1728C>A (n.1728C>A) c.1619C>A (p.Pro540His) c.1724C>A (p.Pro575His) c.1715C>A (p.Pro572His) c.1685C>A (p.Pro562His) | |
5 | g.141574103dup | CA2768670741 | DIAPH1 | c.1751dup (p.Ala585CysfsTer7) c.1728dup (n.1728dup) c.1619dup (p.Ala541CysfsTer7) c.1724dup (p.Ala576CysfsTer7) c.1715dup (p.Ala573CysfsTer7) c.1685dup (p.Ala563CysfsTer7) | |
5 | g.141574101_141574103del | CA917596234 | DIAPH1 | c.1749_1751del (p.Pro584del) c.1726_1728del (n.1726_1728del) c.1617_1619del (p.Pro540del) c.1722_1724del (p.Pro575del) c.1713_1715del (p.Pro572del) c.1683_1685del (p.Pro562del) | dbSNP |
5 | g.141574100G>A | CA361521542 | DIAPH1 | c.1750C>T (p.Pro584Ser) c.1727C>T (n.1727C>T) c.1618C>T (p.Pro540Ser) c.1723C>T (p.Pro575Ser) c.1714C>T (p.Pro572Ser) c.1684C>T (p.Pro562Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.141574100G>C | CA361521548 | DIAPH1 | c.1750C>G (p.Pro584Ala) c.1727C>G (n.1727C>G) c.1618C>G (p.Pro540Ala) c.1723C>G (p.Pro575Ala) c.1714C>G (p.Pro572Ala) c.1684C>G (p.Pro562Ala) | dbSNP |
5 | g.141574100G= | CA1587248454 | DIAPH1 | c.1750C= (p.Pro584=) c.1727C= (n.1727C=) c.1618C= (p.Pro540=) c.1723C= (p.Pro575=) c.1714C= (p.Pro572=) c.1684C= (p.Pro562=) | |
5 | g.141574100G>T | CA361521544 | DIAPH1 | c.1750C>A (p.Pro584Thr) c.1727C>A (n.1727C>A) c.1618C>A (p.Pro540Thr) c.1723C>A (p.Pro575Thr) c.1714C>A (p.Pro572Thr) c.1684C>A (p.Pro562Thr) | |
5 | g.141574101G>A | CA446892379 | DIAPH1 | c.1749C>T (p.Pro583=) c.1726C>T (n.1726C>T) c.1617C>T (p.Pro539=) c.1722C>T (p.Pro574=) c.1713C>T (p.Pro571=) c.1683C>T (p.Pro561=) | |
5 | g.141574101G>C | CA446892378 | DIAPH1 | c.1749C>G (p.Pro583=) c.1726C>G (n.1726C>G) c.1617C>G (p.Pro539=) c.1722C>G (p.Pro574=) c.1713C>G (p.Pro571=) c.1683C>G (p.Pro561=) | |
5 | g.141574101G>T | CA446892377 | DIAPH1 | c.1749C>A (p.Pro583=) c.1726C>A (n.1726C>A) c.1617C>A (p.Pro539=) c.1722C>A (p.Pro574=) c.1713C>A (p.Pro571=) c.1683C>A (p.Pro561=) | |
5 | g.141574101_141574119delinsGGGAACAGGAGCACGACTA | CA1587248458 | DIAPH1 | c.1731_1749delinsTAGTCGTGCTCCTGTTCCC (p.Pro577=) c.1708_1726delinsTAGTCGTGCTCCTGTTCCC (n.1708_1726delinsTAGTCGTGCTCCTGTTCCC) c.1599_1617delinsTAGTCGTGCTCCTGTTCCC (p.Pro533=) c.1704_1722delinsTAGTCGTGCTCCTGTTCCC (p.Pro568=) c.1695_1713delinsTAGTCGTGCTCCTGTTCCC (p.Pro565=) c.1665_1683delinsTAGTCGTGCTCCTGTTCCC (p.Pro555=) | |
5 | g.141574102G>A | CA361521554 | DIAPH1 | c.1748C>T (p.Pro583Leu) c.1725C>T (n.1725C>T) c.1616C>T (p.Pro539Leu) c.1721C>T (p.Pro574Leu) c.1712C>T (p.Pro571Leu) c.1682C>T (p.Pro561Leu) | gnomAD v4 |
5 | g.141574102G>C | CA3479219 | DIAPH1 | c.1748C>G (p.Pro583Arg) c.1725C>G (n.1725C>G) c.1616C>G (p.Pro539Arg) c.1721C>G (p.Pro574Arg) c.1712C>G (p.Pro571Arg) c.1682C>G (p.Pro561Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574102G= | CA1587248462 | DIAPH1 | c.1748C= (p.Pro583=) c.1725C= (n.1725C=) c.1616C= (p.Pro539=) c.1721C= (p.Pro574=) c.1712C= (p.Pro571=) c.1682C= (p.Pro561=) | |
5 | g.141574102G>T | CA361521563 | DIAPH1 | c.1748C>A (p.Pro583His) c.1725C>A (n.1725C>A) c.1616C>A (p.Pro539His) c.1721C>A (p.Pro574His) c.1712C>A (p.Pro571His) c.1682C>A (p.Pro561His) | |
5 | g.141574109_141574126del | CA1587248461 | DIAPH1 | c.1731_1748del (p.Ser578_Pro583del) c.1708_1725del (n.1708_1725del) c.1599_1616del (p.Ser534_Pro539del) c.1704_1721del (p.Ser569_Pro574del) c.1695_1712del (p.Ser566_Pro571del) c.1665_1682del (p.Ser556_Pro561del) | dbSNP |
5 | g.141574103G>A | CA361521569 | DIAPH1 | c.1747C>T (p.Pro583Ser) c.1724C>T (n.1724C>T) c.1615C>T (p.Pro539Ser) c.1720C>T (p.Pro574Ser) c.1711C>T (p.Pro571Ser) c.1681C>T (p.Pro561Ser) | gnomAD v4 |
5 | g.141574103G>C | CA361521573 | DIAPH1 | c.1747C>G (p.Pro583Ala) c.1724C>G (n.1724C>G) c.1615C>G (p.Pro539Ala) c.1720C>G (p.Pro574Ala) c.1711C>G (p.Pro571Ala) c.1681C>G (p.Pro561Ala) | |
5 | g.141574103G>T | CA361521577 | DIAPH1 | c.1747C>A (p.Pro583Thr) c.1724C>A (n.1724C>A) c.1615C>A (p.Pro539Thr) c.1720C>A (p.Pro574Thr) c.1711C>A (p.Pro571Thr) c.1681C>A (p.Pro561Thr) | gnomAD v4 |
5 | g.141574104A>C | CA446892380 | DIAPH1 | c.1746T>G (p.Val582=) c.1723T>G (n.1723T>G) c.1614T>G (p.Val538=) c.1719T>G (p.Val573=) c.1710T>G (p.Val570=) c.1680T>G (p.Val560=) | |
5 | g.141574104A>G | CA446892381 | DIAPH1 | c.1746T>C (p.Val582=) c.1723T>C (n.1723T>C) c.1614T>C (p.Val538=) c.1719T>C (p.Val573=) c.1710T>C (p.Val570=) c.1680T>C (p.Val560=) | |
5 | g.141574104A>T | CA446892382 | DIAPH1 | c.1746T>A (p.Val582=) c.1723T>A (n.1723T>A) c.1614T>A (p.Val538=) c.1719T>A (p.Val573=) c.1710T>A (p.Val570=) c.1680T>A (p.Val560=) | |
5 | g.141574105A= | CA1587248467 | DIAPH1 | c.1745T= (p.Val582=) c.1722T= (n.1722T=) c.1613T= (p.Val538=) c.1718T= (p.Val573=) c.1709T= (p.Val570=) c.1679T= (p.Val560=) | |
5 | g.141574105A>C | CA361521582 | DIAPH1 | c.1745T>G (p.Val582Gly) c.1722T>G (n.1722T>G) c.1613T>G (p.Val538Gly) c.1718T>G (p.Val573Gly) c.1709T>G (p.Val570Gly) c.1679T>G (p.Val560Gly) | |
5 | g.141574105A>G | CA361521584 | DIAPH1 | c.1745T>C (p.Val582Ala) c.1722T>C (n.1722T>C) c.1613T>C (p.Val538Ala) c.1718T>C (p.Val573Ala) c.1709T>C (p.Val570Ala) c.1679T>C (p.Val560Ala) | dbSNP |
5 | g.141574105A>T | CA361521596 | DIAPH1 | c.1745T>A (p.Val582Asp) c.1722T>A (n.1722T>A) c.1613T>A (p.Val538Asp) c.1718T>A (p.Val573Asp) c.1709T>A (p.Val570Asp) c.1679T>A (p.Val560Asp) | |
5 | g.141574106C>A | CA361521603 | DIAPH1 | c.1744G>T (p.Val582Phe) c.1721G>T (n.1721G>T) c.1612G>T (p.Val538Phe) c.1717G>T (p.Val573Phe) c.1708G>T (p.Val570Phe) c.1678G>T (p.Val560Phe) | |
5 | g.141574106C= | CA1587248481 | DIAPH1 | c.1744G= (p.Val582=) c.1721G= (n.1721G=) c.1612G= (p.Val538=) c.1717G= (p.Val573=) c.1708G= (p.Val570=) c.1678G= (p.Val560=) | |
5 | g.141574106C>G | CA10619213 | DIAPH1 | c.1744G>C (p.Val582Leu) c.1721G>C (n.1721G>C) c.1612G>C (p.Val538Leu) c.1717G>C (p.Val573Leu) c.1708G>C (p.Val570Leu) c.1678G>C (p.Val560Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574106C>T | CA3479220 | DIAPH1 | c.1744G>A (p.Val582Ile) c.1721G>A (n.1721G>A) c.1612G>A (p.Val538Ile) c.1717G>A (p.Val573Ile) c.1708G>A (p.Val570Ile) c.1678G>A (p.Val560Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.141574107A>C | CA446892383 | DIAPH1 | c.1743T>G (p.Pro581=) c.1720T>G (n.1720T>G) c.1611T>G (p.Pro537=) c.1716T>G (p.Pro572=) c.1707T>G (p.Pro569=) c.1677T>G (p.Pro559=) | |
5 | g.141574107A>G | CA446892384 | DIAPH1 | c.1743T>C (p.Pro581=) c.1720T>C (n.1720T>C) c.1611T>C (p.Pro537=) c.1716T>C (p.Pro572=) c.1707T>C (p.Pro569=) c.1677T>C (p.Pro559=) | |
5 | g.141574107A>T | CA446892385 | DIAPH1 | c.1743T>A (p.Pro581=) c.1720T>A (n.1720T>A) c.1611T>A (p.Pro537=) c.1716T>A (p.Pro572=) c.1707T>A (p.Pro569=) c.1677T>A (p.Pro559=) | |
5 | g.141574108G>A | CA361521627 | DIAPH1 | c.1742C>T (p.Pro581Leu) c.1719C>T (n.1719C>T) c.1610C>T (p.Pro537Leu) c.1715C>T (p.Pro572Leu) c.1706C>T (p.Pro569Leu) c.1676C>T (p.Pro559Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.141574108G>C | CA361521623 | DIAPH1 | c.1742C>G (p.Pro581Arg) c.1719C>G (n.1719C>G) c.1610C>G (p.Pro537Arg) c.1715C>G (p.Pro572Arg) c.1706C>G (p.Pro569Arg) c.1676C>G (p.Pro559Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.141574108G= | CA1587248486 | DIAPH1 | c.1742C= (p.Pro581=) c.1719C= (n.1719C=) c.1610C= (p.Pro537=) c.1715C= (p.Pro572=) c.1706C= (p.Pro569=) c.1676C= (p.Pro559=) | |
5 | g.141574108G>T | CA361521620 | DIAPH1 | c.1742C>A (p.Pro581His) c.1719C>A (n.1719C>A) c.1610C>A (p.Pro537His) c.1715C>A (p.Pro572His) c.1706C>A (p.Pro569His) c.1676C>A (p.Pro559His) | |
5 | g.141574109G>A | CA3479221 | DIAPH1 | c.1741C>T (p.Pro581Ser) c.1718C>T (n.1718C>T) c.1609C>T (p.Pro537Ser) c.1714C>T (p.Pro572Ser) c.1705C>T (p.Pro569Ser) c.1675C>T (p.Pro559Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.141574109G>C | CA361521635 | DIAPH1 | c.1741C>G (p.Pro581Ala) c.1718C>G (n.1718C>G) c.1609C>G (p.Pro537Ala) c.1714C>G (p.Pro572Ala) c.1705C>G (p.Pro569Ala) c.1675C>G (p.Pro559Ala) | gnomAD v4 |
5 | g.141574109G= | CA1587248492 | DIAPH1 | c.1741C= (p.Pro581=) c.1718C= (n.1718C=) c.1609C= (p.Pro537=) c.1714C= (p.Pro572=) c.1705C= (p.Pro569=) c.1675C= (p.Pro559=) | |
5 | g.141574109G>T | CA361521640 | DIAPH1 | c.1741C>A (p.Pro581Thr) c.1718C>A (n.1718C>A) c.1609C>A (p.Pro537Thr) c.1714C>A (p.Pro572Thr) c.1705C>A (p.Pro569Thr) c.1675C>A (p.Pro559Thr) |