Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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.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)
5	g.141574110A>C	CA446892386	DIAPH1	c.1740T>G (p.Ala580=) c.1717T>G (n.1717T>G) c.1608T>G (p.Ala536=) c.1713T>G (p.Ala571=) c.1704T>G (p.Ala568=) c.1674T>G (p.Ala558=)
5	g.141574110A>G	CA446892387	DIAPH1	c.1740T>C (p.Ala580=) c.1717T>C (n.1717T>C) c.1608T>C (p.Ala536=) c.1713T>C (p.Ala571=) c.1704T>C (p.Ala568=) c.1674T>C (p.Ala558=)
5	g.141574110A>T	CA446892388	DIAPH1	c.1740T>A (p.Ala580=) c.1717T>A (n.1717T>A) c.1608T>A (p.Ala536=) c.1713T>A (p.Ala571=) c.1704T>A (p.Ala568=) c.1674T>A (p.Ala558=)
5	g.141574111G>A	CA361521647	DIAPH1	c.1739C>T (p.Ala580Val) c.1716C>T (n.1716C>T) c.1607C>T (p.Ala536Val) c.1712C>T (p.Ala571Val) c.1703C>T (p.Ala568Val) c.1673C>T (p.Ala558Val)	dbSNP gnomAD v2 gnomAD v4
5	g.141574111G>C	CA361521649	DIAPH1	c.1739C>G (p.Ala580Gly) c.1716C>G (n.1716C>G) c.1607C>G (p.Ala536Gly) c.1712C>G (p.Ala571Gly) c.1703C>G (p.Ala568Gly) c.1673C>G (p.Ala558Gly)
5	g.141574111G=	CA1587248499	DIAPH1	c.1739C= (p.Ala580=) c.1716C= (n.1716C=) c.1607C= (p.Ala536=) c.1712C= (p.Ala571=) c.1703C= (p.Ala568=) c.1673C= (p.Ala558=)
5	g.141574111G>T	CA361521652	DIAPH1	c.1739C>A (p.Ala580Asp) c.1716C>A (n.1716C>A) c.1607C>A (p.Ala536Asp) c.1712C>A (p.Ala571Asp) c.1703C>A (p.Ala568Asp) c.1673C>A (p.Ala558Asp)
5	g.141574112C>A	CA361521653	DIAPH1	c.1738G>T (p.Ala580Ser) c.1715G>T (n.1715G>T) c.1606G>T (p.Ala536Ser) c.1711G>T (p.Ala571Ser) c.1702G>T (p.Ala568Ser) c.1672G>T (p.Ala558Ser)
5	g.141574112C=	CA1587248506	DIAPH1	c.1738G= (p.Ala580=) c.1715G= (n.1715G=) c.1606G= (p.Ala536=) c.1711G= (p.Ala571=) c.1702G= (p.Ala568=) c.1672G= (p.Ala558=)
5	g.141574112C>G	CA361521654	DIAPH1	c.1738G>C (p.Ala580Pro) c.1715G>C (n.1715G>C) c.1606G>C (p.Ala536Pro) c.1711G>C (p.Ala571Pro) c.1702G>C (p.Ala568Pro) c.1672G>C (p.Ala558Pro)
5	g.141574112C>T	CA361521655	DIAPH1	c.1738G>A (p.Ala580Thr) c.1715G>A (n.1715G>A) c.1606G>A (p.Ala536Thr) c.1711G>A (p.Ala571Thr) c.1702G>A (p.Ala568Thr) c.1672G>A (p.Ala558Thr)	dbSNP gnomAD v4
5	g.141574113A=	CA1587248511	DIAPH1	c.1737T= (p.Arg579=) c.1714T= (n.1714T=) c.1605T= (p.Arg535=) c.1710T= (p.Arg570=) c.1701T= (p.Arg567=) c.1671T= (p.Arg557=)
5	g.141574113A>C	CA446892389	DIAPH1	c.1737T>G (p.Arg579=) c.1714T>G (n.1714T>G) c.1605T>G (p.Arg535=) c.1710T>G (p.Arg570=) c.1701T>G (p.Arg567=) c.1671T>G (p.Arg557=)	ClinVar dbSNP gnomAD v3 gnomAD v4
5	g.141574113A>G	CA446892390	DIAPH1	c.1737T>C (p.Arg579=) c.1714T>C (n.1714T>C) c.1605T>C (p.Arg535=) c.1710T>C (p.Arg570=) c.1701T>C (p.Arg567=) c.1671T>C (p.Arg557=)	ClinVar gnomAD v4
5	g.141574113A>T	CA446892391	DIAPH1	c.1737T>A (p.Arg579=) c.1714T>A (n.1714T>A) c.1605T>A (p.Arg535=) c.1710T>A (p.Arg570=) c.1701T>A (p.Arg567=) c.1671T>A (p.Arg557=)
5	g.141574114C>A	CA361521662	DIAPH1	c.1736G>T (p.Arg579Leu) c.1713G>T (n.1713G>T) c.1604G>T (p.Arg535Leu) c.1709G>T (p.Arg570Leu) c.1700G>T (p.Arg567Leu) c.1670G>T (p.Arg557Leu)
5	g.141574114C=	CA1587248520	DIAPH1	c.1736G= (p.Arg579=) c.1713G= (n.1713G=) c.1604G= (p.Arg535=) c.1709G= (p.Arg570=) c.1700G= (p.Arg567=) c.1670G= (p.Arg557=)
5	g.141574114C>G	CA3479222	DIAPH1	c.1736G>C (p.Arg579Pro) c.1713G>C (n.1713G>C) c.1604G>C (p.Arg535Pro) c.1709G>C (p.Arg570Pro) c.1700G>C (p.Arg567Pro) c.1670G>C (p.Arg557Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5	g.141574114C>T	CA240726	DIAPH1	c.1736G>A (p.Arg579His) c.1713G>A (n.1713G>A) c.1604G>A (p.Arg535His) c.1709G>A (p.Arg570His) c.1700G>A (p.Arg567His) c.1670G>A (p.Arg557His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched