Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.58467733A>C	CA389874900	KIAA0586	c.2000-2A>C (n.2000-2A>C) n.2801-2A>C c.2255-2A>C (n.2255-2A>C) c.1004-2A>C (n.1004-2A>C) c.336-2A>C (n.336-2A>C) c.359-2A>C (n.359-2A>C) c.1821-2A>C (n.1821-2A>C) c.2027-2A>C (n.2027-2A>C) c.2414-2A>C (n.2414-2A>C) c.2123-2A>C (n.2123-2A>C) n.1845-2A>C c.2210-2A>C (n.2210-2A>C) c.1835-2A>C (n.1835-2A>C) c.2378-2A>C (n.2378-2A>C) c.2279-2A>C (n.2279-2A>C) c.2024-2A>C (n.2024-2A>C) c.1859-2A>C (n.1859-2A>C)
14	g.58467733A>G	CA389874902	KIAA0586	c.2000-2A>G (n.2000-2A>G) n.2801-2A>G c.2255-2A>G (n.2255-2A>G) c.1004-2A>G (n.1004-2A>G) c.336-2A>G (n.336-2A>G) c.359-2A>G (n.359-2A>G) c.1821-2A>G (n.1821-2A>G) c.2027-2A>G (n.2027-2A>G) c.2414-2A>G (n.2414-2A>G) c.2123-2A>G (n.2123-2A>G) n.1845-2A>G c.2210-2A>G (n.2210-2A>G) c.1835-2A>G (n.1835-2A>G) c.2378-2A>G (n.2378-2A>G) c.2279-2A>G (n.2279-2A>G) c.2024-2A>G (n.2024-2A>G) c.1859-2A>G (n.1859-2A>G)
14	g.58467733A>T	CA389874903	KIAA0586	c.2000-2A>T (n.2000-2A>T) n.2801-2A>T c.2255-2A>T (n.2255-2A>T) c.1004-2A>T (n.1004-2A>T) c.336-2A>T (n.336-2A>T) c.359-2A>T (n.359-2A>T) c.1821-2A>T (n.1821-2A>T) c.2027-2A>T (n.2027-2A>T) c.2414-2A>T (n.2414-2A>T) c.2123-2A>T (n.2123-2A>T) n.1845-2A>T c.2210-2A>T (n.2210-2A>T) c.1835-2A>T (n.1835-2A>T) c.2378-2A>T (n.2378-2A>T) c.2279-2A>T (n.2279-2A>T) c.2024-2A>T (n.2024-2A>T) c.1859-2A>T (n.1859-2A>T)
14	g.58467734G>A	CA389874906	KIAA0586	c.2000-1G>A (n.2000-1G>A) n.2801-1G>A c.2255-1G>A (n.2255-1G>A) c.1004-1G>A (n.1004-1G>A) c.336-1G>A (n.336-1G>A) c.359-1G>A (n.359-1G>A) c.1821-1G>A (n.1821-1G>A) c.2027-1G>A (n.2027-1G>A) c.2414-1G>A (n.2414-1G>A) c.2123-1G>A (n.2123-1G>A) n.1845-1G>A c.2210-1G>A (n.2210-1G>A) c.1835-1G>A (n.1835-1G>A) c.2378-1G>A (n.2378-1G>A) c.2279-1G>A (n.2279-1G>A) c.2024-1G>A (n.2024-1G>A) c.1859-1G>A (n.1859-1G>A)
14	g.58467734G>C	CA389874907	KIAA0586	c.2000-1G>C (n.2000-1G>C) n.2801-1G>C c.2255-1G>C (n.2255-1G>C) c.1004-1G>C (n.1004-1G>C) c.336-1G>C (n.336-1G>C) c.359-1G>C (n.359-1G>C) c.1821-1G>C (n.1821-1G>C) c.2027-1G>C (n.2027-1G>C) c.2414-1G>C (n.2414-1G>C) c.2123-1G>C (n.2123-1G>C) n.1845-1G>C c.2210-1G>C (n.2210-1G>C) c.1835-1G>C (n.1835-1G>C) c.2378-1G>C (n.2378-1G>C) c.2279-1G>C (n.2279-1G>C) c.2024-1G>C (n.2024-1G>C) c.1859-1G>C (n.1859-1G>C)	ClinVar dbSNP
14	g.58467734G=	CA2139919836	KIAA0586	c.2000-1G= (n.2000-1G=) n.2801-1G= c.2255-1G= (n.2255-1G=) c.1004-1G= (n.1004-1G=) c.336-1G= (n.336-1G=) c.359-1G= (n.359-1G=) c.1821-1G= (n.1821-1G=) c.2027-1G= (n.2027-1G=) c.2414-1G= (n.2414-1G=) c.2123-1G= (n.2123-1G=) n.1845-1G= c.2210-1G= (n.2210-1G=) c.1835-1G= (n.1835-1G=) c.2378-1G= (n.2378-1G=) c.2279-1G= (n.2279-1G=) c.2024-1G= (n.2024-1G=) c.1859-1G= (n.1859-1G=)
14	g.58467734G>T	CA389874909	KIAA0586	c.2000-1G>T (n.2000-1G>T) n.2801-1G>T c.2255-1G>T (n.2255-1G>T) c.1004-1G>T (n.1004-1G>T) c.336-1G>T (n.336-1G>T) c.359-1G>T (n.359-1G>T) c.1821-1G>T (n.1821-1G>T) c.2027-1G>T (n.2027-1G>T) c.2414-1G>T (n.2414-1G>T) c.2123-1G>T (n.2123-1G>T) n.1845-1G>T c.2210-1G>T (n.2210-1G>T) c.1835-1G>T (n.1835-1G>T) c.2378-1G>T (n.2378-1G>T) c.2279-1G>T (n.2279-1G>T) c.2024-1G>T (n.2024-1G>T) c.1859-1G>T (n.1859-1G>T)
14	g.58467735G>A	CA389874910	KIAA0586	c.2000G>A (p.Gly667Glu) n.2801G>A c.2255G>A (p.Gly752Glu) c.1004G>A (p.Gly335Glu) c.336G>A (n.336G>A) c.359G>A (p.Gly120Glu) c.1821G>A (n.1821G>A) c.2027G>A (p.Gly676Glu) c.2414G>A (p.Gly805Glu) c.2123G>A (p.Gly708Glu) n.1845G>A c.2210G>A (p.Gly737Glu) c.1835G>A (p.Gly612Glu) c.2378G>A (p.Gly793Glu) c.2279G>A (p.Gly760Glu) c.2024G>A (p.Gly675Glu) c.1859G>A (p.Gly620Glu)
14	g.58467735G>C	CA389874912	KIAA0586	c.2000G>C (p.Gly667Ala) n.2801G>C c.2255G>C (p.Gly752Ala) c.1004G>C (p.Gly335Ala) c.336G>C (n.336G>C) c.359G>C (p.Gly120Ala) c.1821G>C (n.1821G>C) c.2027G>C (p.Gly676Ala) c.2414G>C (p.Gly805Ala) c.2123G>C (p.Gly708Ala) n.1845G>C c.2210G>C (p.Gly737Ala) c.1835G>C (p.Gly612Ala) c.2378G>C (p.Gly793Ala) c.2279G>C (p.Gly760Ala) c.2024G>C (p.Gly675Ala) c.1859G>C (p.Gly620Ala)
14	g.58467735G=	CA2139919840	KIAA0586	c.2000G= (p.Gly667=) n.2801G= c.2255G= (p.Gly752=) c.1004G= (p.Gly335=) c.336G= (n.336G=) c.359G= (p.Gly120=) c.1821G= (n.1821G=) c.2027G= (p.Gly676=) c.2414G= (p.Gly805=) c.2123G= (p.Gly708=) n.1845G= c.2210G= (p.Gly737=) c.1835G= (p.Gly612=) c.2378G= (p.Gly793=) c.2279G= (p.Gly760=) c.2024G= (p.Gly675=) c.1859G= (p.Gly620=)
14	g.58467735G>T	CA389874914	KIAA0586	c.2000G>T (p.Gly667Val) n.2801G>T c.2255G>T (p.Gly752Val) c.1004G>T (p.Gly335Val) c.336G>T (n.336G>T) c.359G>T (p.Gly120Val) c.1821G>T (n.1821G>T) c.2027G>T (p.Gly676Val) c.2414G>T (p.Gly805Val) c.2123G>T (p.Gly708Val) n.1845G>T c.2210G>T (p.Gly737Val) c.1835G>T (p.Gly612Val) c.2378G>T (p.Gly793Val) c.2279G>T (p.Gly760Val) c.2024G>T (p.Gly675Val) c.1859G>T (p.Gly620Val)
14	g.58467736A>C	CA486542304	KIAA0586	c.2001A>C (p.Gly667=) n.2802A>C c.2256A>C (p.Gly752=) c.1005A>C (p.Gly335=) c.337A>C (n.337A>C) c.360A>C (p.Gly120=) c.1822A>C (n.1822A>C) c.2028A>C (p.Gly676=) c.2415A>C (p.Gly805=) c.2124A>C (p.Gly708=) n.1846A>C c.2211A>C (p.Gly737=) c.1836A>C (p.Gly612=) c.2379A>C (p.Gly793=) c.2280A>C (p.Gly760=) c.2025A>C (p.Gly675=) c.1860A>C (p.Gly620=)
14	g.58467736A>G	CA486542305	KIAA0586	c.2001A>G (p.Gly667=) n.2802A>G c.2256A>G (p.Gly752=) c.1005A>G (p.Gly335=) c.337A>G (n.337A>G) c.360A>G (p.Gly120=) c.1822A>G (n.1822A>G) c.2028A>G (p.Gly676=) c.2415A>G (p.Gly805=) c.2124A>G (p.Gly708=) n.1846A>G c.2211A>G (p.Gly737=) c.1836A>G (p.Gly612=) c.2379A>G (p.Gly793=) c.2280A>G (p.Gly760=) c.2025A>G (p.Gly675=) c.1860A>G (p.Gly620=)
14	g.58467736A>T	CA486542306	KIAA0586	c.2001A>T (p.Gly667=) n.2802A>T c.2256A>T (p.Gly752=) c.1005A>T (p.Gly335=) c.337A>T (n.337A>T) c.360A>T (p.Gly120=) c.1822A>T (n.1822A>T) c.2028A>T (p.Gly676=) c.2415A>T (p.Gly805=) c.2124A>T (p.Gly708=) n.1846A>T c.2211A>T (p.Gly737=) c.1836A>T (p.Gly612=) c.2379A>T (p.Gly793=) c.2280A>T (p.Gly760=) c.2025A>T (p.Gly675=) c.1860A>T (p.Gly620=)
14	g.58467736dup	CA2139919843	KIAA0586	c.2001dup (p.Gln668ThrfsTer5) n.2802dup c.2256dup (p.Gln753ThrfsTer5) c.1005dup (p.Gln336ThrfsTer5) c.337dup (n.337dup) c.360dup (p.Gln121ThrfsTer5) c.1822dup (n.1822dup) c.2028dup (p.Gln677ThrfsTer5) c.2415dup (p.Gln806ThrfsTer5) c.2124dup (p.Gln709ThrfsTer5) n.1846dup c.2211dup (p.Gln738ThrfsTer5) c.1836dup (p.Gln613ThrfsTer5) c.2379dup (p.Gln794ThrfsTer5) c.2280dup (p.Gln761ThrfsTer5) c.2025dup (p.Gln676ThrfsTer5) c.1860dup (p.Gln621ThrfsTer5)	dbSNP
14	g.58467737C>A	CA389874916	KIAA0586	c.2002C>A (p.Gln668Lys) n.2803C>A c.2257C>A (p.Gln753Lys) c.1006C>A (p.Gln336Lys) c.338C>A (n.338C>A) c.361C>A (p.Gln121Lys) c.1823C>A (n.1823C>A) c.2029C>A (p.Gln677Lys) c.2416C>A (p.Gln806Lys) c.2125C>A (p.Gln709Lys) n.1847C>A c.2212C>A (p.Gln738Lys) c.1837C>A (p.Gln613Lys) c.2380C>A (p.Gln794Lys) c.2281C>A (p.Gln761Lys) c.2026C>A (p.Gln676Lys) c.1861C>A (p.Gln621Lys)
14	g.58467737C>G	CA389874917	KIAA0586	c.2002C>G (p.Gln668Glu) n.2803C>G c.2257C>G (p.Gln753Glu) c.1006C>G (p.Gln336Glu) c.338C>G (n.338C>G) c.361C>G (p.Gln121Glu) c.1823C>G (n.1823C>G) c.2029C>G (p.Gln677Glu) c.2416C>G (p.Gln806Glu) c.2125C>G (p.Gln709Glu) n.1847C>G c.2212C>G (p.Gln738Glu) c.1837C>G (p.Gln613Glu) c.2380C>G (p.Gln794Glu) c.2281C>G (p.Gln761Glu) c.2026C>G (p.Gln676Glu) c.1861C>G (p.Gln621Glu)
14	g.58467737C>T	CA389874918	KIAA0586	c.2002C>T (p.Gln668Ter) n.2803C>T c.2257C>T (p.Gln753Ter) c.1006C>T (p.Gln336Ter) c.338C>T (n.338C>T) c.361C>T (p.Gln121Ter) c.1823C>T (n.1823C>T) c.2029C>T (p.Gln677Ter) c.2416C>T (p.Gln806Ter) c.2125C>T (p.Gln709Ter) n.1847C>T c.2212C>T (p.Gln738Ter) c.1837C>T (p.Gln613Ter) c.2380C>T (p.Gln794Ter) c.2281C>T (p.Gln761Ter) c.2026C>T (p.Gln676Ter) c.1861C>T (p.Gln621Ter)	ClinVar gnomAD v4
14	g.58467738A=	CA2139919846	KIAA0586	c.2003A= (p.Gln668=) n.2804A= c.2258A= (p.Gln753=) c.1007A= (p.Gln336=) c.339A= (n.339A=) c.362A= (p.Gln121=) c.1824A= (n.1824A=) c.2030A= (p.Gln677=) c.2417A= (p.Gln806=) c.2126A= (p.Gln709=) n.1848A= c.2213A= (p.Gln738=) c.1838A= (p.Gln613=) c.2381A= (p.Gln794=) c.2282A= (p.Gln761=) c.2027A= (p.Gln676=) c.1862A= (p.Gln621=)
14	g.58467738A>C	CA7205829	KIAA0586	c.2003A>C (p.Gln668Pro) n.2804A>C c.2258A>C (p.Gln753Pro) c.1007A>C (p.Gln336Pro) c.339A>C (n.339A>C) c.362A>C (p.Gln121Pro) c.1824A>C (n.1824A>C) c.2030A>C (p.Gln677Pro) c.2417A>C (p.Gln806Pro) c.2126A>C (p.Gln709Pro) n.1848A>C c.2213A>C (p.Gln738Pro) c.1838A>C (p.Gln613Pro) c.2381A>C (p.Gln794Pro) c.2282A>C (p.Gln761Pro) c.2027A>C (p.Gln676Pro) c.1862A>C (p.Gln621Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467738A>G	CA389874921	KIAA0586	c.2003A>G (p.Gln668Arg) n.2804A>G c.2258A>G (p.Gln753Arg) c.1007A>G (p.Gln336Arg) c.339A>G (n.339A>G) c.362A>G (p.Gln121Arg) c.1824A>G (n.1824A>G) c.2030A>G (p.Gln677Arg) c.2417A>G (p.Gln806Arg) c.2126A>G (p.Gln709Arg) n.1848A>G c.2213A>G (p.Gln738Arg) c.1838A>G (p.Gln613Arg) c.2381A>G (p.Gln794Arg) c.2282A>G (p.Gln761Arg) c.2027A>G (p.Gln676Arg) c.1862A>G (p.Gln621Arg)
14	g.58467738A>T	CA7205830	KIAA0586	c.2003A>T (p.Gln668Leu) n.2804A>T c.2258A>T (p.Gln753Leu) c.1007A>T (p.Gln336Leu) c.339A>T (n.339A>T) c.362A>T (p.Gln121Leu) c.1824A>T (n.1824A>T) c.2030A>T (p.Gln677Leu) c.2417A>T (p.Gln806Leu) c.2126A>T (p.Gln709Leu) n.1848A>T c.2213A>T (p.Gln738Leu) c.1838A>T (p.Gln613Leu) c.2381A>T (p.Gln794Leu) c.2282A>T (p.Gln761Leu) c.2027A>T (p.Gln676Leu) c.1862A>T (p.Gln621Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.58467739A>C	CA389874923	KIAA0586	c.2004A>C (p.Gln668His) n.2805A>C c.2259A>C (p.Gln753His) c.1008A>C (p.Gln336His) c.340A>C (n.340A>C) c.363A>C (p.Gln121His) c.1825A>C (n.1825A>C) c.2031A>C (p.Gln677His) c.2418A>C (p.Gln806His) c.2127A>C (p.Gln709His) n.1849A>C c.2214A>C (p.Gln738His) c.1839A>C (p.Gln613His) c.2382A>C (p.Gln794His) c.2283A>C (p.Gln761His) c.2028A>C (p.Gln676His) c.1863A>C (p.Gln621His)
14	g.58467739A>G	CA486542307	KIAA0586	c.2004A>G (p.Gln668=) n.2805A>G c.2259A>G (p.Gln753=) c.1008A>G (p.Gln336=) c.340A>G (n.340A>G) c.363A>G (p.Gln121=) c.1825A>G (n.1825A>G) c.2031A>G (p.Gln677=) c.2418A>G (p.Gln806=) c.2127A>G (p.Gln709=) n.1849A>G c.2214A>G (p.Gln738=) c.1839A>G (p.Gln613=) c.2382A>G (p.Gln794=) c.2283A>G (p.Gln761=) c.2028A>G (p.Gln676=) c.1863A>G (p.Gln621=)
14	g.58467739A>T	CA389874925	KIAA0586	c.2004A>T (p.Gln668His) n.2805A>T c.2259A>T (p.Gln753His) c.1008A>T (p.Gln336His) c.340A>T (n.340A>T) c.363A>T (p.Gln121His) c.1825A>T (n.1825A>T) c.2031A>T (p.Gln677His) c.2418A>T (p.Gln806His) c.2127A>T (p.Gln709His) n.1849A>T c.2214A>T (p.Gln738His) c.1839A>T (p.Gln613His) c.2382A>T (p.Gln794His) c.2283A>T (p.Gln761His) c.2028A>T (p.Gln676His) c.1863A>T (p.Gln621His)
14	g.58467740A>C	CA389874927	KIAA0586	c.2005A>C (p.Thr669Pro) n.2806A>C c.2260A>C (p.Thr754Pro) c.1009A>C (p.Thr337Pro) c.341A>C (n.341A>C) c.364A>C (p.Thr122Pro) c.1826A>C (n.1826A>C) c.2032A>C (p.Thr678Pro) c.2419A>C (p.Thr807Pro) c.2128A>C (p.Thr710Pro) n.1850A>C c.2215A>C (p.Thr739Pro) c.1840A>C (p.Thr614Pro) c.2383A>C (p.Thr795Pro) c.2284A>C (p.Thr762Pro) c.2029A>C (p.Thr677Pro) c.1864A>C (p.Thr622Pro)
14	g.58467740A>G	CA389874929	KIAA0586	c.2005A>G (p.Thr669Ala) n.2806A>G c.2260A>G (p.Thr754Ala) c.1009A>G (p.Thr337Ala) c.341A>G (n.341A>G) c.364A>G (p.Thr122Ala) c.1826A>G (n.1826A>G) c.2032A>G (p.Thr678Ala) c.2419A>G (p.Thr807Ala) c.2128A>G (p.Thr710Ala) n.1850A>G c.2215A>G (p.Thr739Ala) c.1840A>G (p.Thr614Ala) c.2383A>G (p.Thr795Ala) c.2284A>G (p.Thr762Ala) c.2029A>G (p.Thr677Ala) c.1864A>G (p.Thr622Ala)
14	g.58467740A>T	CA389874931	KIAA0586	c.2005A>T (p.Thr669Ser) n.2806A>T c.2260A>T (p.Thr754Ser) c.1009A>T (p.Thr337Ser) c.341A>T (n.341A>T) c.364A>T (p.Thr122Ser) c.1826A>T (n.1826A>T) c.2032A>T (p.Thr678Ser) c.2419A>T (p.Thr807Ser) c.2128A>T (p.Thr710Ser) n.1850A>T c.2215A>T (p.Thr739Ser) c.1840A>T (p.Thr614Ser) c.2383A>T (p.Thr795Ser) c.2284A>T (p.Thr762Ser) c.2029A>T (p.Thr677Ser) c.1864A>T (p.Thr622Ser)	ClinVar
14	g.58467741C>A	CA389874933	KIAA0586	c.2006C>A (p.Thr669Asn) n.2807C>A c.2261C>A (p.Thr754Asn) c.1010C>A (p.Thr337Asn) c.342C>A (n.342C>A) c.365C>A (p.Thr122Asn) c.1827C>A (n.1827C>A) c.2033C>A (p.Thr678Asn) c.2420C>A (p.Thr807Asn) c.2129C>A (p.Thr710Asn) n.1851C>A c.2216C>A (p.Thr739Asn) c.1841C>A (p.Thr614Asn) c.2384C>A (p.Thr795Asn) c.2285C>A (p.Thr762Asn) c.2030C>A (p.Thr677Asn) c.1865C>A (p.Thr622Asn)
14	g.58467741C>G	CA389874935	KIAA0586	c.2006C>G (p.Thr669Ser) n.2807C>G c.2261C>G (p.Thr754Ser) c.1010C>G (p.Thr337Ser) c.342C>G (n.342C>G) c.365C>G (p.Thr122Ser) c.1827C>G (n.1827C>G) c.2033C>G (p.Thr678Ser) c.2420C>G (p.Thr807Ser) c.2129C>G (p.Thr710Ser) n.1851C>G c.2216C>G (p.Thr739Ser) c.1841C>G (p.Thr614Ser) c.2384C>G (p.Thr795Ser) c.2285C>G (p.Thr762Ser) c.2030C>G (p.Thr677Ser) c.1865C>G (p.Thr622Ser)
14	g.58467741C>T	CA389874936	KIAA0586	c.2006C>T (p.Thr669Ile) n.2807C>T c.2261C>T (p.Thr754Ile) c.1010C>T (p.Thr337Ile) c.342C>T (n.342C>T) c.365C>T (p.Thr122Ile) c.1827C>T (n.1827C>T) c.2033C>T (p.Thr678Ile) c.2420C>T (p.Thr807Ile) c.2129C>T (p.Thr710Ile) n.1851C>T c.2216C>T (p.Thr739Ile) c.1841C>T (p.Thr614Ile) c.2384C>T (p.Thr795Ile) c.2285C>T (p.Thr762Ile) c.2030C>T (p.Thr677Ile) c.1865C>T (p.Thr622Ile)	COSMIC COSMIC
14	g.58467742C>A	CA486542312	KIAA0586	c.2007C>A (p.Thr669=) n.2808C>A c.2262C>A (p.Thr754=) c.1011C>A (p.Thr337=) c.343C>A (n.343C>A) c.366C>A (p.Thr122=) c.1828C>A (n.1828C>A) c.2034C>A (p.Thr678=) c.2421C>A (p.Thr807=) c.2130C>A (p.Thr710=) n.1852C>A c.2217C>A (p.Thr739=) c.1842C>A (p.Thr614=) c.2385C>A (p.Thr795=) c.2286C>A (p.Thr762=) c.2031C>A (p.Thr677=) c.1866C>A (p.Thr622=)
14	g.58467742C=	CA2139919849	KIAA0586	c.2007C= (p.Thr669=) n.2808C= c.2262C= (p.Thr754=) c.1011C= (p.Thr337=) c.343C= (n.343C=) c.366C= (p.Thr122=) c.1828C= (n.1828C=) c.2034C= (p.Thr678=) c.2421C= (p.Thr807=) c.2130C= (p.Thr710=) n.1852C= c.2217C= (p.Thr739=) c.1842C= (p.Thr614=) c.2385C= (p.Thr795=) c.2286C= (p.Thr762=) c.2031C= (p.Thr677=) c.1866C= (p.Thr622=)
14	g.58467742C>G	CA486542311	KIAA0586	c.2007C>G (p.Thr669=) n.2808C>G c.2262C>G (p.Thr754=) c.1011C>G (p.Thr337=) c.343C>G (n.343C>G) c.366C>G (p.Thr122=) c.1828C>G (n.1828C>G) c.2034C>G (p.Thr678=) c.2421C>G (p.Thr807=) c.2130C>G (p.Thr710=) n.1852C>G c.2217C>G (p.Thr739=) c.1842C>G (p.Thr614=) c.2385C>G (p.Thr795=) c.2286C>G (p.Thr762=) c.2031C>G (p.Thr677=) c.1866C>G (p.Thr622=)
14	g.58467742C>T	CA486542310	KIAA0586	c.2007C>T (p.Thr669=) n.2808C>T c.2262C>T (p.Thr754=) c.1011C>T (p.Thr337=) c.343C>T (n.343C>T) c.366C>T (p.Thr122=) c.1828C>T (n.1828C>T) c.2034C>T (p.Thr678=) c.2421C>T (p.Thr807=) c.2130C>T (p.Thr710=) n.1852C>T c.2217C>T (p.Thr739=) c.1842C>T (p.Thr614=) c.2385C>T (p.Thr795=) c.2286C>T (p.Thr762=) c.2031C>T (p.Thr677=) c.1866C>T (p.Thr622=)	ClinVar dbSNP
14	g.58467743C>A	CA389874938	KIAA0586	c.2008C>A (p.Gln670Lys) n.2809C>A c.2263C>A (p.Gln755Lys) c.1012C>A (p.Gln338Lys) c.344C>A (n.344C>A) c.367C>A (p.Gln123Lys) c.1829C>A (n.1829C>A) c.2035C>A (p.Gln679Lys) c.2422C>A (p.Gln808Lys) c.2131C>A (p.Gln711Lys) n.1853C>A c.2218C>A (p.Gln740Lys) c.1843C>A (p.Gln615Lys) c.2386C>A (p.Gln796Lys) c.2287C>A (p.Gln763Lys) c.2032C>A (p.Gln678Lys) c.1867C>A (p.Gln623Lys)
14	g.58467743C>G	CA389874939	KIAA0586	c.2008C>G (p.Gln670Glu) n.2809C>G c.2263C>G (p.Gln755Glu) c.1012C>G (p.Gln338Glu) c.344C>G (n.344C>G) c.367C>G (p.Gln123Glu) c.1829C>G (n.1829C>G) c.2035C>G (p.Gln679Glu) c.2422C>G (p.Gln808Glu) c.2131C>G (p.Gln711Glu) n.1853C>G c.2218C>G (p.Gln740Glu) c.1843C>G (p.Gln615Glu) c.2386C>G (p.Gln796Glu) c.2287C>G (p.Gln763Glu) c.2032C>G (p.Gln678Glu) c.1867C>G (p.Gln623Glu)
14	g.58467743C>T	CA389874940	KIAA0586	c.2008C>T (p.Gln670Ter) n.2809C>T c.2263C>T (p.Gln755Ter) c.1012C>T (p.Gln338Ter) c.344C>T (n.344C>T) c.367C>T (p.Gln123Ter) c.1829C>T (n.1829C>T) c.2035C>T (p.Gln679Ter) c.2422C>T (p.Gln808Ter) c.2131C>T (p.Gln711Ter) n.1853C>T c.2218C>T (p.Gln740Ter) c.1843C>T (p.Gln615Ter) c.2386C>T (p.Gln796Ter) c.2287C>T (p.Gln763Ter) c.2032C>T (p.Gln678Ter) c.1867C>T (p.Gln623Ter)
14	g.58467744A=	CA2139919851	KIAA0586	c.2009A= (p.Gln670=) n.2810A= c.2264A= (p.Gln755=) c.1013A= (p.Gln338=) c.345A= (n.345A=) c.368A= (p.Gln123=) c.1830A= (n.1830A=) c.2036A= (p.Gln679=) c.2423A= (p.Gln808=) c.2132A= (p.Gln711=) n.1854A= c.2219A= (p.Gln740=) c.1844A= (p.Gln615=) c.2387A= (p.Gln796=) c.2288A= (p.Gln763=) c.2033A= (p.Gln678=) c.1868A= (p.Gln623=)
14	g.58467744A>C	CA389874942	KIAA0586	c.2009A>C (p.Gln670Pro) n.2810A>C c.2264A>C (p.Gln755Pro) c.1013A>C (p.Gln338Pro) c.345A>C (n.345A>C) c.368A>C (p.Gln123Pro) c.1830A>C (n.1830A>C) c.2036A>C (p.Gln679Pro) c.2423A>C (p.Gln808Pro) c.2132A>C (p.Gln711Pro) n.1854A>C c.2219A>C (p.Gln740Pro) c.1844A>C (p.Gln615Pro) c.2387A>C (p.Gln796Pro) c.2288A>C (p.Gln763Pro) c.2033A>C (p.Gln678Pro) c.1868A>C (p.Gln623Pro)
14	g.58467744A>G	CA7205831	KIAA0586	c.2009A>G (p.Gln670Arg) n.2810A>G c.2264A>G (p.Gln755Arg) c.1013A>G (p.Gln338Arg) c.345A>G (n.345A>G) c.368A>G (p.Gln123Arg) c.1830A>G (n.1830A>G) c.2036A>G (p.Gln679Arg) c.2423A>G (p.Gln808Arg) c.2132A>G (p.Gln711Arg) n.1854A>G c.2219A>G (p.Gln740Arg) c.1844A>G (p.Gln615Arg) c.2387A>G (p.Gln796Arg) c.2288A>G (p.Gln763Arg) c.2033A>G (p.Gln678Arg) c.1868A>G (p.Gln623Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.58467744A>T	CA389874944	KIAA0586	c.2009A>T (p.Gln670Leu) n.2810A>T c.2264A>T (p.Gln755Leu) c.1013A>T (p.Gln338Leu) c.345A>T (n.345A>T) c.368A>T (p.Gln123Leu) c.1830A>T (n.1830A>T) c.2036A>T (p.Gln679Leu) c.2423A>T (p.Gln808Leu) c.2132A>T (p.Gln711Leu) n.1854A>T c.2219A>T (p.Gln740Leu) c.1844A>T (p.Gln615Leu) c.2387A>T (p.Gln796Leu) c.2288A>T (p.Gln763Leu) c.2033A>T (p.Gln678Leu) c.1868A>T (p.Gln623Leu)
14	g.58467745A=	CA2139919854	KIAA0586	c.2010A= (p.Gln670=) n.2811A= c.2265A= (p.Gln755=) c.1014A= (p.Gln338=) c.346A= (n.346A=) c.369A= (p.Gln123=) c.1831A= (n.1831A=) c.2037A= (p.Gln679=) c.2424A= (p.Gln808=) c.2133A= (p.Gln711=) n.1855A= c.2220A= (p.Gln740=) c.1845A= (p.Gln615=) c.2388A= (p.Gln796=) c.2289A= (p.Gln763=) c.2034A= (p.Gln678=) c.1869A= (p.Gln623=)
14	g.58467745A>C	CA389874945	KIAA0586	c.2010A>C (p.Gln670His) n.2811A>C c.2265A>C (p.Gln755His) c.1014A>C (p.Gln338His) c.346A>C (n.346A>C) c.369A>C (p.Gln123His) c.1831A>C (n.1831A>C) c.2037A>C (p.Gln679His) c.2424A>C (p.Gln808His) c.2133A>C (p.Gln711His) n.1855A>C c.2220A>C (p.Gln740His) c.1845A>C (p.Gln615His) c.2388A>C (p.Gln796His) c.2289A>C (p.Gln763His) c.2034A>C (p.Gln678His) c.1869A>C (p.Gln623His)
14	g.58467745A>G	CA486542314	KIAA0586	c.2010A>G (p.Gln670=) n.2811A>G c.2265A>G (p.Gln755=) c.1014A>G (p.Gln338=) c.346A>G (n.346A>G) c.369A>G (p.Gln123=) c.1831A>G (n.1831A>G) c.2037A>G (p.Gln679=) c.2424A>G (p.Gln808=) c.2133A>G (p.Gln711=) n.1855A>G c.2220A>G (p.Gln740=) c.1845A>G (p.Gln615=) c.2388A>G (p.Gln796=) c.2289A>G (p.Gln763=) c.2034A>G (p.Gln678=) c.1869A>G (p.Gln623=)	dbSNP
14	g.58467745A>T	CA389874946	KIAA0586	c.2010A>T (p.Gln670His) n.2811A>T c.2265A>T (p.Gln755His) c.1014A>T (p.Gln338His) c.346A>T (n.346A>T) c.369A>T (p.Gln123His) c.1831A>T (n.1831A>T) c.2037A>T (p.Gln679His) c.2424A>T (p.Gln808His) c.2133A>T (p.Gln711His) n.1855A>T c.2220A>T (p.Gln740His) c.1845A>T (p.Gln615His) c.2388A>T (p.Gln796His) c.2289A>T (p.Gln763His) c.2034A>T (p.Gln678His) c.1869A>T (p.Gln623His)
14	g.58467746A>C	CA389874948	KIAA0586	c.2011A>C (p.Ser671Arg) n.2812A>C c.2266A>C (p.Ser756Arg) c.1015A>C (p.Ser339Arg) c.347A>C (n.347A>C) c.370A>C (p.Ser124Arg) c.1832A>C (n.1832A>C) c.2038A>C (p.Ser680Arg) c.2425A>C (p.Ser809Arg) c.2134A>C (p.Ser712Arg) n.1856A>C c.2221A>C (p.Ser741Arg) c.1846A>C (p.Ser616Arg) c.2389A>C (p.Ser797Arg) c.2290A>C (p.Ser764Arg) c.2035A>C (p.Ser679Arg) c.1870A>C (p.Ser624Arg)
14	g.58467746A>G	CA389874954	KIAA0586	c.2011A>G (p.Ser671Gly) n.2812A>G c.2266A>G (p.Ser756Gly) c.1015A>G (p.Ser339Gly) c.347A>G (n.347A>G) c.370A>G (p.Ser124Gly) c.1832A>G (n.1832A>G) c.2038A>G (p.Ser680Gly) c.2425A>G (p.Ser809Gly) c.2134A>G (p.Ser712Gly) n.1856A>G c.2221A>G (p.Ser741Gly) c.1846A>G (p.Ser616Gly) c.2389A>G (p.Ser797Gly) c.2290A>G (p.Ser764Gly) c.2035A>G (p.Ser679Gly) c.1870A>G (p.Ser624Gly)
14	g.58467746A>T	CA389874956	KIAA0586	c.2011A>T (p.Ser671Cys) n.2812A>T c.2266A>T (p.Ser756Cys) c.1015A>T (p.Ser339Cys) c.347A>T (n.347A>T) c.370A>T (p.Ser124Cys) c.1832A>T (n.1832A>T) c.2038A>T (p.Ser680Cys) c.2425A>T (p.Ser809Cys) c.2134A>T (p.Ser712Cys) n.1856A>T c.2221A>T (p.Ser741Cys) c.1846A>T (p.Ser616Cys) c.2389A>T (p.Ser797Cys) c.2290A>T (p.Ser764Cys) c.2035A>T (p.Ser679Cys) c.1870A>T (p.Ser624Cys)
14	g.58467747G>A	CA389874957	KIAA0586	c.2012G>A (p.Ser671Asn) n.2813G>A c.2267G>A (p.Ser756Asn) c.1016G>A (p.Ser339Asn) c.348G>A (n.348G>A) c.371G>A (p.Ser124Asn) c.1833G>A (n.1833G>A) c.2039G>A (p.Ser680Asn) c.2426G>A (p.Ser809Asn) c.2135G>A (p.Ser712Asn) n.1857G>A c.2222G>A (p.Ser741Asn) c.1847G>A (p.Ser616Asn) c.2390G>A (p.Ser797Asn) c.2291G>A (p.Ser764Asn) c.2036G>A (p.Ser679Asn) c.1871G>A (p.Ser624Asn)
14	g.58467747G>C	CA389874959	KIAA0586	c.2012G>C (p.Ser671Thr) n.2813G>C c.2267G>C (p.Ser756Thr) c.1016G>C (p.Ser339Thr) c.348G>C (n.348G>C) c.371G>C (p.Ser124Thr) c.1833G>C (n.1833G>C) c.2039G>C (p.Ser680Thr) c.2426G>C (p.Ser809Thr) c.2135G>C (p.Ser712Thr) n.1857G>C c.2222G>C (p.Ser741Thr) c.1847G>C (p.Ser616Thr) c.2390G>C (p.Ser797Thr) c.2291G>C (p.Ser764Thr) c.2036G>C (p.Ser679Thr) c.1871G>C (p.Ser624Thr)	dbSNP
14	g.58467747G=	CA2139919858	KIAA0586	c.2012G= (p.Ser671=) n.2813G= c.2267G= (p.Ser756=) c.1016G= (p.Ser339=) c.348G= (n.348G=) c.371G= (p.Ser124=) c.1833G= (n.1833G=) c.2039G= (p.Ser680=) c.2426G= (p.Ser809=) c.2135G= (p.Ser712=) n.1857G= c.2222G= (p.Ser741=) c.1847G= (p.Ser616=) c.2390G= (p.Ser797=) c.2291G= (p.Ser764=) c.2036G= (p.Ser679=) c.1871G= (p.Ser624=)
14	g.58467747G>T	CA389874960	KIAA0586	c.2012G>T (p.Ser671Ile) n.2813G>T c.2267G>T (p.Ser756Ile) c.1016G>T (p.Ser339Ile) c.348G>T (n.348G>T) c.371G>T (p.Ser124Ile) c.1833G>T (n.1833G>T) c.2039G>T (p.Ser680Ile) c.2426G>T (p.Ser809Ile) c.2135G>T (p.Ser712Ile) n.1857G>T c.2222G>T (p.Ser741Ile) c.1847G>T (p.Ser616Ile) c.2390G>T (p.Ser797Ile) c.2291G>T (p.Ser764Ile) c.2036G>T (p.Ser679Ile) c.1871G>T (p.Ser624Ile)
14	g.58467748T>A	CA389874962	KIAA0586	c.2013T>A (p.Ser671Arg) n.2814T>A c.2268T>A (p.Ser756Arg) c.1017T>A (p.Ser339Arg) c.349T>A (n.349T>A) c.372T>A (p.Ser124Arg) c.1834T>A (n.1834T>A) c.2040T>A (p.Ser680Arg) c.2427T>A (p.Ser809Arg) c.2136T>A (p.Ser712Arg) n.1858T>A c.2223T>A (p.Ser741Arg) c.1848T>A (p.Ser616Arg) c.2391T>A (p.Ser797Arg) c.2292T>A (p.Ser764Arg) c.2037T>A (p.Ser679Arg) c.1872T>A (p.Ser624Arg)
14	g.58467748T>C	CA486542317	KIAA0586	c.2013T>C (p.Ser671=) n.2814T>C c.2268T>C (p.Ser756=) c.1017T>C (p.Ser339=) c.349T>C (n.349T>C) c.372T>C (p.Ser124=) c.1834T>C (n.1834T>C) c.2040T>C (p.Ser680=) c.2427T>C (p.Ser809=) c.2136T>C (p.Ser712=) n.1858T>C c.2223T>C (p.Ser741=) c.1848T>C (p.Ser616=) c.2391T>C (p.Ser797=) c.2292T>C (p.Ser764=) c.2037T>C (p.Ser679=) c.1872T>C (p.Ser624=)
14	g.58467748T>G	CA389874964	KIAA0586	c.2013T>G (p.Ser671Arg) n.2814T>G c.2268T>G (p.Ser756Arg) c.1017T>G (p.Ser339Arg) c.349T>G (n.349T>G) c.372T>G (p.Ser124Arg) c.1834T>G (n.1834T>G) c.2040T>G (p.Ser680Arg) c.2427T>G (p.Ser809Arg) c.2136T>G (p.Ser712Arg) n.1858T>G c.2223T>G (p.Ser741Arg) c.1848T>G (p.Ser616Arg) c.2391T>G (p.Ser797Arg) c.2292T>G (p.Ser764Arg) c.2037T>G (p.Ser679Arg) c.1872T>G (p.Ser624Arg)	dbSNP gnomAD v4
14	g.58467748T=	CA2139919862	KIAA0586	c.2013T= (p.Ser671=) n.2814T= c.2268T= (p.Ser756=) c.1017T= (p.Ser339=) c.349T= (n.349T=) c.372T= (p.Ser124=) c.1834T= (n.1834T=) c.2040T= (p.Ser680=) c.2427T= (p.Ser809=) c.2136T= (p.Ser712=) n.1858T= c.2223T= (p.Ser741=) c.1848T= (p.Ser616=) c.2391T= (p.Ser797=) c.2292T= (p.Ser764=) c.2037T= (p.Ser679=) c.1872T= (p.Ser624=)
14	g.58467750_58467751insAGGCTAA	CA2515425508	KIAA0586	c.2015_2016insAGGCTAA (p.Asn672LysfsTer3) n.2816_2817insAGGCTAA c.2270_2271insAGGCTAA (p.Asn757LysfsTer3) c.1019_1020insAGGCTAA (p.Asn340LysfsTer3) c.351_352insAGGCTAA (n.351_352insAGGCTAA) c.374_375insAGGCTAA (p.Asn125LysfsTer3) c.1836_1837insAGGCTAA (n.1836_1837insAGGCTAA) c.2042_2043insAGGCTAA (p.Asn681LysfsTer3) c.2429_2430insAGGCTAA (p.Asn810LysfsTer3) c.2138_2139insAGGCTAA (p.Asn713LysfsTer3) n.1860_1861insAGGCTAA c.2225_2226insAGGCTAA (p.Asn742LysfsTer3) c.1850_1851insAGGCTAA (p.Asn617LysfsTer3) c.2393_2394insAGGCTAA (p.Asn798LysfsTer3) c.2294_2295insAGGCTAA (p.Asn765LysfsTer3) c.2039_2040insAGGCTAA (p.Asn680LysfsTer3) c.1874_1875insAGGCTAA (p.Asn625LysfsTer3)
14	g.58467749A=	CA2139919865	KIAA0586	c.2014A= (p.Asn672=) n.2815A= c.2269A= (p.Asn757=) c.1018A= (p.Asn340=) c.350A= (n.350A=) c.373A= (p.Asn125=) c.1835A= (n.1835A=) c.2041A= (p.Asn681=) c.2428A= (p.Asn810=) c.2137A= (p.Asn713=) n.1859A= c.2224A= (p.Asn742=) c.1849A= (p.Asn617=) c.2392A= (p.Asn798=) c.2293A= (p.Asn765=) c.2038A= (p.Asn680=) c.1873A= (p.Asn625=)
14	g.58467749A>C	CA389874966	KIAA0586	c.2014A>C (p.Asn672His) n.2815A>C c.2269A>C (p.Asn757His) c.1018A>C (p.Asn340His) c.350A>C (n.350A>C) c.373A>C (p.Asn125His) c.1835A>C (n.1835A>C) c.2041A>C (p.Asn681His) c.2428A>C (p.Asn810His) c.2137A>C (p.Asn713His) n.1859A>C c.2224A>C (p.Asn742His) c.1849A>C (p.Asn617His) c.2392A>C (p.Asn798His) c.2293A>C (p.Asn765His) c.2038A>C (p.Asn680His) c.1873A>C (p.Asn625His)
14	g.58467749A>G	CA7205832	KIAA0586	c.2014A>G (p.Asn672Asp) n.2815A>G c.2269A>G (p.Asn757Asp) c.1018A>G (p.Asn340Asp) c.350A>G (n.350A>G) c.373A>G (p.Asn125Asp) c.1835A>G (n.1835A>G) c.2041A>G (p.Asn681Asp) c.2428A>G (p.Asn810Asp) c.2137A>G (p.Asn713Asp) n.1859A>G c.2224A>G (p.Asn742Asp) c.1849A>G (p.Asn617Asp) c.2392A>G (p.Asn798Asp) c.2293A>G (p.Asn765Asp) c.2038A>G (p.Asn680Asp) c.1873A>G (p.Asn625Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14	g.58467749A>T	CA389874967	KIAA0586	c.2014A>T (p.Asn672Tyr) n.2815A>T c.2269A>T (p.Asn757Tyr) c.1018A>T (p.Asn340Tyr) c.350A>T (n.350A>T) c.373A>T (p.Asn125Tyr) c.1835A>T (n.1835A>T) c.2041A>T (p.Asn681Tyr) c.2428A>T (p.Asn810Tyr) c.2137A>T (p.Asn713Tyr) n.1859A>T c.2224A>T (p.Asn742Tyr) c.1849A>T (p.Asn617Tyr) c.2392A>T (p.Asn798Tyr) c.2293A>T (p.Asn765Tyr) c.2038A>T (p.Asn680Tyr) c.1873A>T (p.Asn625Tyr)
14	g.58467750A=	CA2139919867	KIAA0586	c.2015A= (p.Asn672=) n.2816A= c.2270A= (p.Asn757=) c.1019A= (p.Asn340=) c.351A= (n.351A=) c.374A= (p.Asn125=) c.1836A= (n.1836A=) c.2042A= (p.Asn681=) c.2429A= (p.Asn810=) c.2138A= (p.Asn713=) n.1860A= c.2225A= (p.Asn742=) c.1850A= (p.Asn617=) c.2393A= (p.Asn798=) c.2294A= (p.Asn765=) c.2039A= (p.Asn680=) c.1874A= (p.Asn625=)
14	g.58467750A>C	CA389874970	KIAA0586	c.2015A>C (p.Asn672Thr) n.2816A>C c.2270A>C (p.Asn757Thr) c.1019A>C (p.Asn340Thr) c.351A>C (n.351A>C) c.374A>C (p.Asn125Thr) c.1836A>C (n.1836A>C) c.2042A>C (p.Asn681Thr) c.2429A>C (p.Asn810Thr) c.2138A>C (p.Asn713Thr) n.1860A>C c.2225A>C (p.Asn742Thr) c.1850A>C (p.Asn617Thr) c.2393A>C (p.Asn798Thr) c.2294A>C (p.Asn765Thr) c.2039A>C (p.Asn680Thr) c.1874A>C (p.Asn625Thr)
14	g.58467750A>G	CA7205833	KIAA0586	c.2015A>G (p.Asn672Ser) n.2816A>G c.2270A>G (p.Asn757Ser) c.1019A>G (p.Asn340Ser) c.351A>G (n.351A>G) c.374A>G (p.Asn125Ser) c.1836A>G (n.1836A>G) c.2042A>G (p.Asn681Ser) c.2429A>G (p.Asn810Ser) c.2138A>G (p.Asn713Ser) n.1860A>G c.2225A>G (p.Asn742Ser) c.1850A>G (p.Asn617Ser) c.2393A>G (p.Asn798Ser) c.2294A>G (p.Asn765Ser) c.2039A>G (p.Asn680Ser) c.1874A>G (p.Asn625Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467750A>T	CA389874972	KIAA0586	c.2015A>T (p.Asn672Ile) n.2816A>T c.2270A>T (p.Asn757Ile) c.1019A>T (p.Asn340Ile) c.351A>T (n.351A>T) c.374A>T (p.Asn125Ile) c.1836A>T (n.1836A>T) c.2042A>T (p.Asn681Ile) c.2429A>T (p.Asn810Ile) c.2138A>T (p.Asn713Ile) n.1860A>T c.2225A>T (p.Asn742Ile) c.1850A>T (p.Asn617Ile) c.2393A>T (p.Asn798Ile) c.2294A>T (p.Asn765Ile) c.2039A>T (p.Asn680Ile) c.1874A>T (p.Asn625Ile)
14	g.58467751T>A	CA389874973	KIAA0586	c.2016T>A (p.Asn672Lys) n.2817T>A c.2271T>A (p.Asn757Lys) c.1020T>A (p.Asn340Lys) c.352T>A (n.352T>A) c.375T>A (p.Asn125Lys) c.1837T>A (n.1837T>A) c.2043T>A (p.Asn681Lys) c.2430T>A (p.Asn810Lys) c.2139T>A (p.Asn713Lys) n.1861T>A c.2226T>A (p.Asn742Lys) c.1851T>A (p.Asn617Lys) c.2394T>A (p.Asn798Lys) c.2295T>A (p.Asn765Lys) c.2040T>A (p.Asn680Lys) c.1875T>A (p.Asn625Lys)
14	g.58467751T>C	CA486542321	KIAA0586	c.2016T>C (p.Asn672=) n.2817T>C c.2271T>C (p.Asn757=) c.1020T>C (p.Asn340=) c.352T>C (n.352T>C) c.375T>C (p.Asn125=) c.1837T>C (n.1837T>C) c.2043T>C (p.Asn681=) c.2430T>C (p.Asn810=) c.2139T>C (p.Asn713=) n.1861T>C c.2226T>C (p.Asn742=) c.1851T>C (p.Asn617=) c.2394T>C (p.Asn798=) c.2295T>C (p.Asn765=) c.2040T>C (p.Asn680=) c.1875T>C (p.Asn625=)
14	g.58467751T>G	CA389874974	KIAA0586	c.2016T>G (p.Asn672Lys) n.2817T>G c.2271T>G (p.Asn757Lys) c.1020T>G (p.Asn340Lys) c.352T>G (n.352T>G) c.375T>G (p.Asn125Lys) c.1837T>G (n.1837T>G) c.2043T>G (p.Asn681Lys) c.2430T>G (p.Asn810Lys) c.2139T>G (p.Asn713Lys) n.1861T>G c.2226T>G (p.Asn742Lys) c.1851T>G (p.Asn617Lys) c.2394T>G (p.Asn798Lys) c.2295T>G (p.Asn765Lys) c.2040T>G (p.Asn680Lys) c.1875T>G (p.Asn625Lys)
14	g.58467752A>C	CA389874977	KIAA0586	c.2017A>C (p.Ser673Arg) n.2818A>C c.2272A>C (p.Ser758Arg) c.1021A>C (p.Ser341Arg) c.353A>C (n.353A>C) c.376A>C (p.Ser126Arg) c.1838A>C (n.1838A>C) c.2044A>C (p.Ser682Arg) c.2431A>C (p.Ser811Arg) c.2140A>C (p.Ser714Arg) n.1862A>C c.2227A>C (p.Ser743Arg) c.1852A>C (p.Ser618Arg) c.2395A>C (p.Ser799Arg) c.2296A>C (p.Ser766Arg) c.2041A>C (p.Ser681Arg) c.1876A>C (p.Ser626Arg)
14	g.58467752A>G	CA389874981	KIAA0586	c.2017A>G (p.Ser673Gly) n.2818A>G c.2272A>G (p.Ser758Gly) c.1021A>G (p.Ser341Gly) c.353A>G (n.353A>G) c.376A>G (p.Ser126Gly) c.1838A>G (n.1838A>G) c.2044A>G (p.Ser682Gly) c.2431A>G (p.Ser811Gly) c.2140A>G (p.Ser714Gly) n.1862A>G c.2227A>G (p.Ser743Gly) c.1852A>G (p.Ser618Gly) c.2395A>G (p.Ser799Gly) c.2296A>G (p.Ser766Gly) c.2041A>G (p.Ser681Gly) c.1876A>G (p.Ser626Gly)
14	g.58467752A>T	CA389874979	KIAA0586	c.2017A>T (p.Ser673Cys) n.2818A>T c.2272A>T (p.Ser758Cys) c.1021A>T (p.Ser341Cys) c.353A>T (n.353A>T) c.376A>T (p.Ser126Cys) c.1838A>T (n.1838A>T) c.2044A>T (p.Ser682Cys) c.2431A>T (p.Ser811Cys) c.2140A>T (p.Ser714Cys) n.1862A>T c.2227A>T (p.Ser743Cys) c.1852A>T (p.Ser618Cys) c.2395A>T (p.Ser799Cys) c.2296A>T (p.Ser766Cys) c.2041A>T (p.Ser681Cys) c.1876A>T (p.Ser626Cys)
14	g.58467753G>A	CA389874982	KIAA0586	c.2018G>A (p.Ser673Asn) n.2819G>A c.2273G>A (p.Ser758Asn) c.1022G>A (p.Ser341Asn) c.354G>A (n.354G>A) c.377G>A (p.Ser126Asn) c.1839G>A (n.1839G>A) c.2045G>A (p.Ser682Asn) c.2432G>A (p.Ser811Asn) c.2141G>A (p.Ser714Asn) n.1863G>A c.2228G>A (p.Ser743Asn) c.1853G>A (p.Ser618Asn) c.2396G>A (p.Ser799Asn) c.2297G>A (p.Ser766Asn) c.2042G>A (p.Ser681Asn) c.1877G>A (p.Ser626Asn)	dbSNP gnomAD v3 gnomAD v4
14	g.58467753G>C	CA389874985	KIAA0586	c.2018G>C (p.Ser673Thr) n.2819G>C c.2273G>C (p.Ser758Thr) c.1022G>C (p.Ser341Thr) c.354G>C (n.354G>C) c.377G>C (p.Ser126Thr) c.1839G>C (n.1839G>C) c.2045G>C (p.Ser682Thr) c.2432G>C (p.Ser811Thr) c.2141G>C (p.Ser714Thr) n.1863G>C c.2228G>C (p.Ser743Thr) c.1853G>C (p.Ser618Thr) c.2396G>C (p.Ser799Thr) c.2297G>C (p.Ser766Thr) c.2042G>C (p.Ser681Thr) c.1877G>C (p.Ser626Thr)
14	g.58467753G=	CA2139919868	KIAA0586	c.2018G= (p.Ser673=) n.2819G= c.2273G= (p.Ser758=) c.1022G= (p.Ser341=) c.354G= (n.354G=) c.377G= (p.Ser126=) c.1839G= (n.1839G=) c.2045G= (p.Ser682=) c.2432G= (p.Ser811=) c.2141G= (p.Ser714=) n.1863G= c.2228G= (p.Ser743=) c.1853G= (p.Ser618=) c.2396G= (p.Ser799=) c.2297G= (p.Ser766=) c.2042G= (p.Ser681=) c.1877G= (p.Ser626=)
14	g.58467753G>T	CA389874984	KIAA0586	c.2018G>T (p.Ser673Ile) n.2819G>T c.2273G>T (p.Ser758Ile) c.1022G>T (p.Ser341Ile) c.354G>T (n.354G>T) c.377G>T (p.Ser126Ile) c.1839G>T (n.1839G>T) c.2045G>T (p.Ser682Ile) c.2432G>T (p.Ser811Ile) c.2141G>T (p.Ser714Ile) n.1863G>T c.2228G>T (p.Ser743Ile) c.1853G>T (p.Ser618Ile) c.2396G>T (p.Ser799Ile) c.2297G>T (p.Ser766Ile) c.2042G>T (p.Ser681Ile) c.1877G>T (p.Ser626Ile)
14	g.58467754T>A	CA389874987	KIAA0586	c.2019T>A (p.Ser673Arg) n.2820T>A c.2274T>A (p.Ser758Arg) c.1023T>A (p.Ser341Arg) c.355T>A (n.355T>A) c.378T>A (p.Ser126Arg) c.1840T>A (n.1840T>A) c.2046T>A (p.Ser682Arg) c.2433T>A (p.Ser811Arg) c.2142T>A (p.Ser714Arg) n.1864T>A c.2229T>A (p.Ser743Arg) c.1854T>A (p.Ser618Arg) c.2397T>A (p.Ser799Arg) c.2298T>A (p.Ser766Arg) c.2043T>A (p.Ser681Arg) c.1878T>A (p.Ser626Arg)
14	g.58467754T>C	CA486542323	KIAA0586	c.2019T>C (p.Ser673=) n.2820T>C c.2274T>C (p.Ser758=) c.1023T>C (p.Ser341=) c.355T>C (n.355T>C) c.378T>C (p.Ser126=) c.1840T>C (n.1840T>C) c.2046T>C (p.Ser682=) c.2433T>C (p.Ser811=) c.2142T>C (p.Ser714=) n.1864T>C c.2229T>C (p.Ser743=) c.1854T>C (p.Ser618=) c.2397T>C (p.Ser799=) c.2298T>C (p.Ser766=) c.2043T>C (p.Ser681=) c.1878T>C (p.Ser626=)
14	g.58467754T>G	CA389874989	KIAA0586	c.2019T>G (p.Ser673Arg) n.2820T>G c.2274T>G (p.Ser758Arg) c.1023T>G (p.Ser341Arg) c.355T>G (n.355T>G) c.378T>G (p.Ser126Arg) c.1840T>G (n.1840T>G) c.2046T>G (p.Ser682Arg) c.2433T>G (p.Ser811Arg) c.2142T>G (p.Ser714Arg) n.1864T>G c.2229T>G (p.Ser743Arg) c.1854T>G (p.Ser618Arg) c.2397T>G (p.Ser799Arg) c.2298T>G (p.Ser766Arg) c.2043T>G (p.Ser681Arg) c.1878T>G (p.Ser626Arg)
14	g.58467755G>A	CA389874990	KIAA0586	c.2020G>A (p.Asp674Asn) n.2821G>A c.2275G>A (p.Asp759Asn) c.1024G>A (p.Asp342Asn) c.356G>A (n.356G>A) c.379G>A (p.Asp127Asn) c.1841G>A (n.1841G>A) c.2047G>A (p.Asp683Asn) c.2434G>A (p.Asp812Asn) c.2143G>A (p.Asp715Asn) n.1865G>A c.2230G>A (p.Asp744Asn) c.1855G>A (p.Asp619Asn) c.2398G>A (p.Asp800Asn) c.2299G>A (p.Asp767Asn) c.2044G>A (p.Asp682Asn) c.1879G>A (p.Asp627Asn)	gnomAD v4
14	g.58467755G>C	CA389874992	KIAA0586	c.2020G>C (p.Asp674His) n.2821G>C c.2275G>C (p.Asp759His) c.1024G>C (p.Asp342His) c.356G>C (n.356G>C) c.379G>C (p.Asp127His) c.1841G>C (n.1841G>C) c.2047G>C (p.Asp683His) c.2434G>C (p.Asp812His) c.2143G>C (p.Asp715His) n.1865G>C c.2230G>C (p.Asp744His) c.1855G>C (p.Asp619His) c.2398G>C (p.Asp800His) c.2299G>C (p.Asp767His) c.2044G>C (p.Asp682His) c.1879G>C (p.Asp627His)
14	g.58467755G>T	CA389874993	KIAA0586	c.2020G>T (p.Asp674Tyr) n.2821G>T c.2275G>T (p.Asp759Tyr) c.1024G>T (p.Asp342Tyr) c.356G>T (n.356G>T) c.379G>T (p.Asp127Tyr) c.1841G>T (n.1841G>T) c.2047G>T (p.Asp683Tyr) c.2434G>T (p.Asp812Tyr) c.2143G>T (p.Asp715Tyr) n.1865G>T c.2230G>T (p.Asp744Tyr) c.1855G>T (p.Asp619Tyr) c.2398G>T (p.Asp800Tyr) c.2299G>T (p.Asp767Tyr) c.2044G>T (p.Asp682Tyr) c.1879G>T (p.Asp627Tyr)
14	g.58467756A>C	CA389874995	KIAA0586	c.2021A>C (p.Asp674Ala) n.2822A>C c.2276A>C (p.Asp759Ala) c.1025A>C (p.Asp342Ala) c.357A>C (n.357A>C) c.380A>C (p.Asp127Ala) c.1842A>C (n.1842A>C) c.2048A>C (p.Asp683Ala) c.2435A>C (p.Asp812Ala) c.2144A>C (p.Asp715Ala) n.1866A>C c.2231A>C (p.Asp744Ala) c.1856A>C (p.Asp619Ala) c.2399A>C (p.Asp800Ala) c.2300A>C (p.Asp767Ala) c.2045A>C (p.Asp682Ala) c.1880A>C (p.Asp627Ala)
14	g.58467756A>G	CA389874996	KIAA0586	c.2021A>G (p.Asp674Gly) n.2822A>G c.2276A>G (p.Asp759Gly) c.1025A>G (p.Asp342Gly) c.357A>G (n.357A>G) c.380A>G (p.Asp127Gly) c.1842A>G (n.1842A>G) c.2048A>G (p.Asp683Gly) c.2435A>G (p.Asp812Gly) c.2144A>G (p.Asp715Gly) n.1866A>G c.2231A>G (p.Asp744Gly) c.1856A>G (p.Asp619Gly) c.2399A>G (p.Asp800Gly) c.2300A>G (p.Asp767Gly) c.2045A>G (p.Asp682Gly) c.1880A>G (p.Asp627Gly)
14	g.58467756A>T	CA389874998	KIAA0586	c.2021A>T (p.Asp674Val) n.2822A>T c.2276A>T (p.Asp759Val) c.1025A>T (p.Asp342Val) c.357A>T (n.357A>T) c.380A>T (p.Asp127Val) c.1842A>T (n.1842A>T) c.2048A>T (p.Asp683Val) c.2435A>T (p.Asp812Val) c.2144A>T (p.Asp715Val) n.1866A>T c.2231A>T (p.Asp744Val) c.1856A>T (p.Asp619Val) c.2399A>T (p.Asp800Val) c.2300A>T (p.Asp767Val) c.2045A>T (p.Asp682Val) c.1880A>T (p.Asp627Val)
14	g.58467757T>A	CA389874999	KIAA0586	c.2022T>A (p.Asp674Glu) n.2823T>A c.2277T>A (p.Asp759Glu) c.1026T>A (p.Asp342Glu) c.358T>A (n.358T>A) c.381T>A (p.Asp127Glu) c.1843T>A (n.1843T>A) c.2049T>A (p.Asp683Glu) c.2436T>A (p.Asp812Glu) c.2145T>A (p.Asp715Glu) n.1867T>A c.2232T>A (p.Asp744Glu) c.1857T>A (p.Asp619Glu) c.2400T>A (p.Asp800Glu) c.2301T>A (p.Asp767Glu) c.2046T>A (p.Asp682Glu) c.1881T>A (p.Asp627Glu)
14	g.58467757T>C	CA486542326	KIAA0586	c.2022T>C (p.Asp674=) n.2823T>C c.2277T>C (p.Asp759=) c.1026T>C (p.Asp342=) c.358T>C (n.358T>C) c.381T>C (p.Asp127=) c.1843T>C (n.1843T>C) c.2049T>C (p.Asp683=) c.2436T>C (p.Asp812=) c.2145T>C (p.Asp715=) n.1867T>C c.2232T>C (p.Asp744=) c.1857T>C (p.Asp619=) c.2400T>C (p.Asp800=) c.2301T>C (p.Asp767=) c.2046T>C (p.Asp682=) c.1881T>C (p.Asp627=)
14	g.58467757T>G	CA389875000	KIAA0586	c.2022T>G (p.Asp674Glu) n.2823T>G c.2277T>G (p.Asp759Glu) c.1026T>G (p.Asp342Glu) c.358T>G (n.358T>G) c.381T>G (p.Asp127Glu) c.1843T>G (n.1843T>G) c.2049T>G (p.Asp683Glu) c.2436T>G (p.Asp812Glu) c.2145T>G (p.Asp715Glu) n.1867T>G c.2232T>G (p.Asp744Glu) c.1857T>G (p.Asp619Glu) c.2400T>G (p.Asp800Glu) c.2301T>G (p.Asp767Glu) c.2046T>G (p.Asp682Glu) c.1881T>G (p.Asp627Glu)
14	g.58467758A=	CA2139919870	KIAA0586	c.2023A= (p.Thr675=) n.2824A= c.2278A= (p.Thr760=) c.1027A= (p.Thr343=) c.359A= (n.359A=) c.382A= (p.Thr128=) c.1844A= (n.1844A=) c.2050A= (p.Thr684=) c.2437A= (p.Thr813=) c.2146A= (p.Thr716=) n.1868A= c.2233A= (p.Thr745=) c.1858A= (p.Thr620=) c.2401A= (p.Thr801=) c.2302A= (p.Thr768=) c.2047A= (p.Thr683=) c.1882A= (p.Thr628=)
14	g.58467758A>C	CA389875003	KIAA0586	c.2023A>C (p.Thr675Pro) n.2824A>C c.2278A>C (p.Thr760Pro) c.1027A>C (p.Thr343Pro) c.359A>C (n.359A>C) c.382A>C (p.Thr128Pro) c.1844A>C (n.1844A>C) c.2050A>C (p.Thr684Pro) c.2437A>C (p.Thr813Pro) c.2146A>C (p.Thr716Pro) n.1868A>C c.2233A>C (p.Thr745Pro) c.1858A>C (p.Thr620Pro) c.2401A>C (p.Thr801Pro) c.2302A>C (p.Thr768Pro) c.2047A>C (p.Thr683Pro) c.1882A>C (p.Thr628Pro)	dbSNP gnomAD v2 gnomAD v4
14	g.58467758A>G	CA389875004	KIAA0586	c.2023A>G (p.Thr675Ala) n.2824A>G c.2278A>G (p.Thr760Ala) c.1027A>G (p.Thr343Ala) c.359A>G (n.359A>G) c.382A>G (p.Thr128Ala) c.1844A>G (n.1844A>G) c.2050A>G (p.Thr684Ala) c.2437A>G (p.Thr813Ala) c.2146A>G (p.Thr716Ala) n.1868A>G c.2233A>G (p.Thr745Ala) c.1858A>G (p.Thr620Ala) c.2401A>G (p.Thr801Ala) c.2302A>G (p.Thr768Ala) c.2047A>G (p.Thr683Ala) c.1882A>G (p.Thr628Ala)	gnomAD v4
14	g.58467758A>T	CA389875006	KIAA0586	c.2023A>T (p.Thr675Ser) n.2824A>T c.2278A>T (p.Thr760Ser) c.1027A>T (p.Thr343Ser) c.359A>T (n.359A>T) c.382A>T (p.Thr128Ser) c.1844A>T (n.1844A>T) c.2050A>T (p.Thr684Ser) c.2437A>T (p.Thr813Ser) c.2146A>T (p.Thr716Ser) n.1868A>T c.2233A>T (p.Thr745Ser) c.1858A>T (p.Thr620Ser) c.2401A>T (p.Thr801Ser) c.2302A>T (p.Thr768Ser) c.2047A>T (p.Thr683Ser) c.1882A>T (p.Thr628Ser)
14	g.58467759C>A	CA7205834	KIAA0586	c.2024C>A (p.Thr675Asn) n.2825C>A c.2279C>A (p.Thr760Asn) c.1028C>A (p.Thr343Asn) c.360C>A (n.360C>A) c.383C>A (p.Thr128Asn) c.1845C>A (n.1845C>A) c.2051C>A (p.Thr684Asn) c.2438C>A (p.Thr813Asn) c.2147C>A (p.Thr716Asn) n.1869C>A c.2234C>A (p.Thr745Asn) c.1859C>A (p.Thr620Asn) c.2402C>A (p.Thr801Asn) c.2303C>A (p.Thr768Asn) c.2048C>A (p.Thr683Asn) c.1883C>A (p.Thr628Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14	g.58467759C=	CA2139919873	KIAA0586	c.2024C= (p.Thr675=) n.2825C= c.2279C= (p.Thr760=) c.1028C= (p.Thr343=) c.360C= (n.360C=) c.383C= (p.Thr128=) c.1845C= (n.1845C=) c.2051C= (p.Thr684=) c.2438C= (p.Thr813=) c.2147C= (p.Thr716=) n.1869C= c.2234C= (p.Thr745=) c.1859C= (p.Thr620=) c.2402C= (p.Thr801=) c.2303C= (p.Thr768=) c.2048C= (p.Thr683=) c.1883C= (p.Thr628=)
14	g.58467759C>G	CA389875008	KIAA0586	c.2024C>G (p.Thr675Ser) n.2825C>G c.2279C>G (p.Thr760Ser) c.1028C>G (p.Thr343Ser) c.360C>G (n.360C>G) c.383C>G (p.Thr128Ser) c.1845C>G (n.1845C>G) c.2051C>G (p.Thr684Ser) c.2438C>G (p.Thr813Ser) c.2147C>G (p.Thr716Ser) n.1869C>G c.2234C>G (p.Thr745Ser) c.1859C>G (p.Thr620Ser) c.2402C>G (p.Thr801Ser) c.2303C>G (p.Thr768Ser) c.2048C>G (p.Thr683Ser) c.1883C>G (p.Thr628Ser)
14	g.58467759C>T	CA389875010	KIAA0586	c.2024C>T (p.Thr675Ile) n.2825C>T c.2279C>T (p.Thr760Ile) c.1028C>T (p.Thr343Ile) c.360C>T (n.360C>T) c.383C>T (p.Thr128Ile) c.1845C>T (n.1845C>T) c.2051C>T (p.Thr684Ile) c.2438C>T (p.Thr813Ile) c.2147C>T (p.Thr716Ile) n.1869C>T c.2234C>T (p.Thr745Ile) c.1859C>T (p.Thr620Ile) c.2402C>T (p.Thr801Ile) c.2303C>T (p.Thr768Ile) c.2048C>T (p.Thr683Ile) c.1883C>T (p.Thr628Ile)
14	g.58467760C>A	CA486542332	KIAA0586	c.2025C>A (p.Thr675=) n.2826C>A c.2280C>A (p.Thr760=) c.1029C>A (p.Thr343=) c.361C>A (n.361C>A) c.384C>A (p.Thr128=) c.1846C>A (n.1846C>A) c.2052C>A (p.Thr684=) c.2439C>A (p.Thr813=) c.2148C>A (p.Thr716=) n.1870C>A c.2235C>A (p.Thr745=) c.1860C>A (p.Thr620=) c.2403C>A (p.Thr801=) c.2304C>A (p.Thr768=) c.2049C>A (p.Thr683=) c.1884C>A (p.Thr628=)
14	g.58467760C>G	CA486542331	KIAA0586	c.2025C>G (p.Thr675=) n.2826C>G c.2280C>G (p.Thr760=) c.1029C>G (p.Thr343=) c.361C>G (n.361C>G) c.384C>G (p.Thr128=) c.1846C>G (n.1846C>G) c.2052C>G (p.Thr684=) c.2439C>G (p.Thr813=) c.2148C>G (p.Thr716=) n.1870C>G c.2235C>G (p.Thr745=) c.1860C>G (p.Thr620=) c.2403C>G (p.Thr801=) c.2304C>G (p.Thr768=) c.2049C>G (p.Thr683=) c.1884C>G (p.Thr628=)	dbSNP gnomAD v4
14	g.58467760C>T	CA486542330	KIAA0586	c.2025C>T (p.Thr675=) n.2826C>T c.2280C>T (p.Thr760=) c.1029C>T (p.Thr343=) c.361C>T (n.361C>T) c.384C>T (p.Thr128=) c.1846C>T (n.1846C>T) c.2052C>T (p.Thr684=) c.2439C>T (p.Thr813=) c.2148C>T (p.Thr716=) n.1870C>T c.2235C>T (p.Thr745=) c.1860C>T (p.Thr620=) c.2403C>T (p.Thr801=) c.2304C>T (p.Thr768=) c.2049C>T (p.Thr683=) c.1884C>T (p.Thr628=)	ClinVar
14	g.58467761A=	CA2139919877	KIAA0586	c.2026A= (p.Met676=) n.2827A= c.2281A= (p.Met761=) c.1030A= (p.Met344=) c.362A= (n.362A=) c.385A= (p.Met129=) c.1847A= (n.1847A=) c.2053A= (p.Met685=) c.2440A= (p.Met814=) c.2149A= (p.Met717=) n.1871A= c.2236A= (p.Met746=) c.1861A= (p.Met621=) c.2404A= (p.Met802=) c.2305A= (p.Met769=) c.2050A= (p.Met684=) c.1885A= (p.Met629=)
14	g.58467761A>C	CA389875013	KIAA0586	c.2026A>C (p.Met676Leu) n.2827A>C c.2281A>C (p.Met761Leu) c.1030A>C (p.Met344Leu) c.362A>C (n.362A>C) c.385A>C (p.Met129Leu) c.1847A>C (n.1847A>C) c.2053A>C (p.Met685Leu) c.2440A>C (p.Met814Leu) c.2149A>C (p.Met717Leu) n.1871A>C c.2236A>C (p.Met746Leu) c.1861A>C (p.Met621Leu) c.2404A>C (p.Met802Leu) c.2305A>C (p.Met769Leu) c.2050A>C (p.Met684Leu) c.1885A>C (p.Met629Leu)
14	g.58467761A>G	CA7205835	KIAA0586	c.2026A>G (p.Met676Val) n.2827A>G c.2281A>G (p.Met761Val) c.1030A>G (p.Met344Val) c.362A>G (n.362A>G) c.385A>G (p.Met129Val) c.1847A>G (n.1847A>G) c.2053A>G (p.Met685Val) c.2440A>G (p.Met814Val) c.2149A>G (p.Met717Val) n.1871A>G c.2236A>G (p.Met746Val) c.1861A>G (p.Met621Val) c.2404A>G (p.Met802Val) c.2305A>G (p.Met769Val) c.2050A>G (p.Met684Val) c.1885A>G (p.Met629Val)	dbSNP ExAC gnomAD v2
14	g.58467761A>T	CA389875015	KIAA0586	c.2026A>T (p.Met676Leu) n.2827A>T c.2281A>T (p.Met761Leu) c.1030A>T (p.Met344Leu) c.362A>T (n.362A>T) c.385A>T (p.Met129Leu) c.1847A>T (n.1847A>T) c.2053A>T (p.Met685Leu) c.2440A>T (p.Met814Leu) c.2149A>T (p.Met717Leu) n.1871A>T c.2236A>T (p.Met746Leu) c.1861A>T (p.Met621Leu) c.2404A>T (p.Met802Leu) c.2305A>T (p.Met769Leu) c.2050A>T (p.Met684Leu) c.1885A>T (p.Met629Leu)
14	g.58467762T>A	CA389875017	KIAA0586	c.2027T>A (p.Met676Lys) n.2828T>A c.2282T>A (p.Met761Lys) c.1031T>A (p.Met344Lys) c.363T>A (n.363T>A) c.386T>A (p.Met129Lys) c.1848T>A (n.1848T>A) c.2054T>A (p.Met685Lys) c.2441T>A (p.Met814Lys) c.2150T>A (p.Met717Lys) n.1872T>A c.2237T>A (p.Met746Lys) c.1862T>A (p.Met621Lys) c.2405T>A (p.Met802Lys) c.2306T>A (p.Met769Lys) c.2051T>A (p.Met684Lys) c.1886T>A (p.Met629Lys)
14	g.58467762T>C	CA389875019	KIAA0586	c.2027T>C (p.Met676Thr) n.2828T>C c.2282T>C (p.Met761Thr) c.1031T>C (p.Met344Thr) c.363T>C (n.363T>C) c.386T>C (p.Met129Thr) c.1848T>C (n.1848T>C) c.2054T>C (p.Met685Thr) c.2441T>C (p.Met814Thr) c.2150T>C (p.Met717Thr) n.1872T>C c.2237T>C (p.Met746Thr) c.1862T>C (p.Met621Thr) c.2405T>C (p.Met802Thr) c.2306T>C (p.Met769Thr) c.2051T>C (p.Met684Thr) c.1886T>C (p.Met629Thr)	gnomAD v4 COSMIC COSMIC
14	g.58467762T>G	CA389875020	KIAA0586	c.2027T>G (p.Met676Arg) n.2828T>G c.2282T>G (p.Met761Arg) c.1031T>G (p.Met344Arg) c.363T>G (n.363T>G) c.386T>G (p.Met129Arg) c.1848T>G (n.1848T>G) c.2054T>G (p.Met685Arg) c.2441T>G (p.Met814Arg) c.2150T>G (p.Met717Arg) n.1872T>G c.2237T>G (p.Met746Arg) c.1862T>G (p.Met621Arg) c.2405T>G (p.Met802Arg) c.2306T>G (p.Met769Arg) c.2051T>G (p.Met684Arg) c.1886T>G (p.Met629Arg)
14	g.58467763G>A	CA389875022	KIAA0586	c.2028G>A (p.Met676Ile) n.2829G>A c.2283G>A (p.Met761Ile) c.1032G>A (p.Met344Ile) c.364G>A (n.364G>A) c.387G>A (p.Met129Ile) c.1849G>A (n.1849G>A) c.2055G>A (p.Met685Ile) c.2442G>A (p.Met814Ile) c.2151G>A (p.Met717Ile) n.1873G>A c.2238G>A (p.Met746Ile) c.1863G>A (p.Met621Ile) c.2406G>A (p.Met802Ile) c.2307G>A (p.Met769Ile) c.2052G>A (p.Met684Ile) c.1887G>A (p.Met629Ile)	gnomAD v4
14	g.58467763G>C	CA389875024	KIAA0586	c.2028G>C (p.Met676Ile) n.2829G>C c.2283G>C (p.Met761Ile) c.1032G>C (p.Met344Ile) c.364G>C (n.364G>C) c.387G>C (p.Met129Ile) c.1849G>C (n.1849G>C) c.2055G>C (p.Met685Ile) c.2442G>C (p.Met814Ile) c.2151G>C (p.Met717Ile) n.1873G>C c.2238G>C (p.Met746Ile) c.1863G>C (p.Met621Ile) c.2406G>C (p.Met802Ile) c.2307G>C (p.Met769Ile) c.2052G>C (p.Met684Ile) c.1887G>C (p.Met629Ile)
14	g.58467763G>T	CA389875026	KIAA0586	c.2028G>T (p.Met676Ile) n.2829G>T c.2283G>T (p.Met761Ile) c.1032G>T (p.Met344Ile) c.364G>T (n.364G>T) c.387G>T (p.Met129Ile) c.1849G>T (n.1849G>T) c.2055G>T (p.Met685Ile) c.2442G>T (p.Met814Ile) c.2151G>T (p.Met717Ile) n.1873G>T c.2238G>T (p.Met746Ile) c.1863G>T (p.Met621Ile) c.2406G>T (p.Met802Ile) c.2307G>T (p.Met769Ile) c.2052G>T (p.Met684Ile) c.1887G>T (p.Met629Ile)
14	g.58467764C>A	CA389875027	KIAA0586	c.2029C>A (p.Pro677Thr) n.2830C>A c.2284C>A (p.Pro762Thr) c.1033C>A (p.Pro345Thr) c.365C>A (n.365C>A) c.388C>A (p.Pro130Thr) c.1850C>A (n.1850C>A) c.2056C>A (p.Pro686Thr) c.2443C>A (p.Pro815Thr) c.2152C>A (p.Pro718Thr) n.1874C>A c.2239C>A (p.Pro747Thr) c.1864C>A (p.Pro622Thr) c.2407C>A (p.Pro803Thr) c.2308C>A (p.Pro770Thr) c.2053C>A (p.Pro685Thr) c.1888C>A (p.Pro630Thr)
14	g.58467764C=	CA2139919879	KIAA0586	c.2029C= (p.Pro677=) n.2830C= c.2284C= (p.Pro762=) c.1033C= (p.Pro345=) c.365C= (n.365C=) c.388C= (p.Pro130=) c.1850C= (n.1850C=) c.2056C= (p.Pro686=) c.2443C= (p.Pro815=) c.2152C= (p.Pro718=) n.1874C= c.2239C= (p.Pro747=) c.1864C= (p.Pro622=) c.2407C= (p.Pro803=) c.2308C= (p.Pro770=) c.2053C= (p.Pro685=) c.1888C= (p.Pro630=)
14	g.58467764C>G	CA389875029	KIAA0586	c.2029C>G (p.Pro677Ala) n.2830C>G c.2284C>G (p.Pro762Ala) c.1033C>G (p.Pro345Ala) c.365C>G (n.365C>G) c.388C>G (p.Pro130Ala) c.1850C>G (n.1850C>G) c.2056C>G (p.Pro686Ala) c.2443C>G (p.Pro815Ala) c.2152C>G (p.Pro718Ala) n.1874C>G c.2239C>G (p.Pro747Ala) c.1864C>G (p.Pro622Ala) c.2407C>G (p.Pro803Ala) c.2308C>G (p.Pro770Ala) c.2053C>G (p.Pro685Ala) c.1888C>G (p.Pro630Ala)
14	g.58467764C>T	CA389875031	KIAA0586	c.2029C>T (p.Pro677Ser) n.2830C>T c.2284C>T (p.Pro762Ser) c.1033C>T (p.Pro345Ser) c.365C>T (n.365C>T) c.388C>T (p.Pro130Ser) c.1850C>T (n.1850C>T) c.2056C>T (p.Pro686Ser) c.2443C>T (p.Pro815Ser) c.2152C>T (p.Pro718Ser) n.1874C>T c.2239C>T (p.Pro747Ser) c.1864C>T (p.Pro622Ser) c.2407C>T (p.Pro803Ser) c.2308C>T (p.Pro770Ser) c.2053C>T (p.Pro685Ser) c.1888C>T (p.Pro630Ser)	dbSNP gnomAD v3 gnomAD v4
14	g.58467765C>A	CA389875032	KIAA0586	c.2030C>A (p.Pro677Gln) n.2831C>A c.2285C>A (p.Pro762Gln) c.1034C>A (p.Pro345Gln) c.366C>A (n.366C>A) c.389C>A (p.Pro130Gln) c.1851C>A (n.1851C>A) c.2057C>A (p.Pro686Gln) c.2444C>A (p.Pro815Gln) c.2153C>A (p.Pro718Gln) n.1875C>A c.2240C>A (p.Pro747Gln) c.1865C>A (p.Pro622Gln) c.2408C>A (p.Pro803Gln) c.2309C>A (p.Pro770Gln) c.2054C>A (p.Pro685Gln) c.1889C>A (p.Pro630Gln)
14	g.58467765C=	CA2139919884	KIAA0586	c.2030C= (p.Pro677=) n.2831C= c.2285C= (p.Pro762=) c.1034C= (p.Pro345=) c.366C= (n.366C=) c.389C= (p.Pro130=) c.1851C= (n.1851C=) c.2057C= (p.Pro686=) c.2444C= (p.Pro815=) c.2153C= (p.Pro718=) n.1875C= c.2240C= (p.Pro747=) c.1865C= (p.Pro622=) c.2408C= (p.Pro803=) c.2309C= (p.Pro770=) c.2054C= (p.Pro685=) c.1889C= (p.Pro630=)
14	g.58467765C>G	CA389875035	KIAA0586	c.2030C>G (p.Pro677Arg) n.2831C>G c.2285C>G (p.Pro762Arg) c.1034C>G (p.Pro345Arg) c.366C>G (n.366C>G) c.389C>G (p.Pro130Arg) c.1851C>G (n.1851C>G) c.2057C>G (p.Pro686Arg) c.2444C>G (p.Pro815Arg) c.2153C>G (p.Pro718Arg) n.1875C>G c.2240C>G (p.Pro747Arg) c.1865C>G (p.Pro622Arg) c.2408C>G (p.Pro803Arg) c.2309C>G (p.Pro770Arg) c.2054C>G (p.Pro685Arg) c.1889C>G (p.Pro630Arg)
14	g.58467765C>T	CA389875034	KIAA0586	c.2030C>T (p.Pro677Leu) n.2831C>T c.2285C>T (p.Pro762Leu) c.1034C>T (p.Pro345Leu) c.366C>T (n.366C>T) c.389C>T (p.Pro130Leu) c.1851C>T (n.1851C>T) c.2057C>T (p.Pro686Leu) c.2444C>T (p.Pro815Leu) c.2153C>T (p.Pro718Leu) n.1875C>T c.2240C>T (p.Pro747Leu) c.1865C>T (p.Pro622Leu) c.2408C>T (p.Pro803Leu) c.2309C>T (p.Pro770Leu) c.2054C>T (p.Pro685Leu) c.1889C>T (p.Pro630Leu)	dbSNP
14	g.58467766A=	CA2139919888	KIAA0586	c.2031A= (p.Pro677=) n.2832A= c.2286A= (p.Pro762=) c.1035A= (p.Pro345=) c.367A= (n.367A=) c.390A= (p.Pro130=) c.1852A= (n.1852A=) c.2058A= (p.Pro686=) c.2445A= (p.Pro815=) c.2154A= (p.Pro718=) n.1876A= c.2241A= (p.Pro747=) c.1866A= (p.Pro622=) c.2409A= (p.Pro803=) c.2310A= (p.Pro770=) c.2055A= (p.Pro685=) c.1890A= (p.Pro630=)
14	g.58467766A>C	CA486542337	KIAA0586	c.2031A>C (p.Pro677=) n.2832A>C c.2286A>C (p.Pro762=) c.1035A>C (p.Pro345=) c.367A>C (n.367A>C) c.390A>C (p.Pro130=) c.1852A>C (n.1852A>C) c.2058A>C (p.Pro686=) c.2445A>C (p.Pro815=) c.2154A>C (p.Pro718=) n.1876A>C c.2241A>C (p.Pro747=) c.1866A>C (p.Pro622=) c.2409A>C (p.Pro803=) c.2310A>C (p.Pro770=) c.2055A>C (p.Pro685=) c.1890A>C (p.Pro630=)	dbSNP
14	g.58467766A>G	CA486542339	KIAA0586	c.2031A>G (p.Pro677=) n.2832A>G c.2286A>G (p.Pro762=) c.1035A>G (p.Pro345=) c.367A>G (n.367A>G) c.390A>G (p.Pro130=) c.1852A>G (n.1852A>G) c.2058A>G (p.Pro686=) c.2445A>G (p.Pro815=) c.2154A>G (p.Pro718=) n.1876A>G c.2241A>G (p.Pro747=) c.1866A>G (p.Pro622=) c.2409A>G (p.Pro803=) c.2310A>G (p.Pro770=) c.2055A>G (p.Pro685=) c.1890A>G (p.Pro630=)
14	g.58467766A>T	CA486542338	KIAA0586	c.2031A>T (p.Pro677=) n.2832A>T c.2286A>T (p.Pro762=) c.1035A>T (p.Pro345=) c.367A>T (n.367A>T) c.390A>T (p.Pro130=) c.1852A>T (n.1852A>T) c.2058A>T (p.Pro686=) c.2445A>T (p.Pro815=) c.2154A>T (p.Pro718=) n.1876A>T c.2241A>T (p.Pro747=) c.1866A>T (p.Pro622=) c.2409A>T (p.Pro803=) c.2310A>T (p.Pro770=) c.2055A>T (p.Pro685=) c.1890A>T (p.Pro630=)
14	g.58467767C>A	CA389875037	KIAA0586	c.2032C>A (p.Pro678Thr) n.2833C>A c.2287C>A (p.Pro763Thr) c.1036C>A (p.Pro346Thr) c.368C>A (n.368C>A) c.391C>A (p.Pro131Thr) c.1853C>A (n.1853C>A) c.2059C>A (p.Pro687Thr) c.2446C>A (p.Pro816Thr) c.2155C>A (p.Pro719Thr) n.1877C>A c.2242C>A (p.Pro748Thr) c.1867C>A (p.Pro623Thr) c.2410C>A (p.Pro804Thr) c.2311C>A (p.Pro771Thr) c.2056C>A (p.Pro686Thr) c.1891C>A (p.Pro631Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467767C=	CA2139919891	KIAA0586	c.2032C= (p.Pro678=) n.2833C= c.2287C= (p.Pro763=) c.1036C= (p.Pro346=) c.368C= (n.368C=) c.391C= (p.Pro131=) c.1853C= (n.1853C=) c.2059C= (p.Pro687=) c.2446C= (p.Pro816=) c.2155C= (p.Pro719=) n.1877C= c.2242C= (p.Pro748=) c.1867C= (p.Pro623=) c.2410C= (p.Pro804=) c.2311C= (p.Pro771=) c.2056C= (p.Pro686=) c.1891C= (p.Pro631=)
14	g.58467767C>G	CA389875039	KIAA0586	c.2032C>G (p.Pro678Ala) n.2833C>G c.2287C>G (p.Pro763Ala) c.1036C>G (p.Pro346Ala) c.368C>G (n.368C>G) c.391C>G (p.Pro131Ala) c.1853C>G (n.1853C>G) c.2059C>G (p.Pro687Ala) c.2446C>G (p.Pro816Ala) c.2155C>G (p.Pro719Ala) n.1877C>G c.2242C>G (p.Pro748Ala) c.1867C>G (p.Pro623Ala) c.2410C>G (p.Pro804Ala) c.2311C>G (p.Pro771Ala) c.2056C>G (p.Pro686Ala) c.1891C>G (p.Pro631Ala)
14	g.58467767C>T	CA7205836	KIAA0586	c.2032C>T (p.Pro678Ser) n.2833C>T c.2287C>T (p.Pro763Ser) c.1036C>T (p.Pro346Ser) c.368C>T (n.368C>T) c.391C>T (p.Pro131Ser) c.1853C>T (n.1853C>T) c.2059C>T (p.Pro687Ser) c.2446C>T (p.Pro816Ser) c.2155C>T (p.Pro719Ser) n.1877C>T c.2242C>T (p.Pro748Ser) c.1867C>T (p.Pro623Ser) c.2410C>T (p.Pro804Ser) c.2311C>T (p.Pro771Ser) c.2056C>T (p.Pro686Ser) c.1891C>T (p.Pro631Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467768C>A	CA389875041	KIAA0586	c.2033C>A (p.Pro678His) n.2834C>A c.2288C>A (p.Pro763His) c.1037C>A (p.Pro346His) c.369C>A (n.369C>A) c.392C>A (p.Pro131His) c.1854C>A (n.1854C>A) c.2060C>A (p.Pro687His) c.2447C>A (p.Pro816His) c.2156C>A (p.Pro719His) n.1878C>A c.2243C>A (p.Pro748His) c.1868C>A (p.Pro623His) c.2411C>A (p.Pro804His) c.2312C>A (p.Pro771His) c.2057C>A (p.Pro686His) c.1892C>A (p.Pro631His)
14	g.58467768C=	CA2139919894	KIAA0586	c.2033C= (p.Pro678=) n.2834C= c.2288C= (p.Pro763=) c.1037C= (p.Pro346=) c.369C= (n.369C=) c.392C= (p.Pro131=) c.1854C= (n.1854C=) c.2060C= (p.Pro687=) c.2447C= (p.Pro816=) c.2156C= (p.Pro719=) n.1878C= c.2243C= (p.Pro748=) c.1868C= (p.Pro623=) c.2411C= (p.Pro804=) c.2312C= (p.Pro771=) c.2057C= (p.Pro686=) c.1892C= (p.Pro631=)
14	g.58467768C>G	CA389875043	KIAA0586	c.2033C>G (p.Pro678Arg) n.2834C>G c.2288C>G (p.Pro763Arg) c.1037C>G (p.Pro346Arg) c.369C>G (n.369C>G) c.392C>G (p.Pro131Arg) c.1854C>G (n.1854C>G) c.2060C>G (p.Pro687Arg) c.2447C>G (p.Pro816Arg) c.2156C>G (p.Pro719Arg) n.1878C>G c.2243C>G (p.Pro748Arg) c.1868C>G (p.Pro623Arg) c.2411C>G (p.Pro804Arg) c.2312C>G (p.Pro771Arg) c.2057C>G (p.Pro686Arg) c.1892C>G (p.Pro631Arg)
14	g.58467768C>T	CA7205837	KIAA0586	c.2033C>T (p.Pro678Leu) n.2834C>T c.2288C>T (p.Pro763Leu) c.1037C>T (p.Pro346Leu) c.369C>T (n.369C>T) c.392C>T (p.Pro131Leu) c.1854C>T (n.1854C>T) c.2060C>T (p.Pro687Leu) c.2447C>T (p.Pro816Leu) c.2156C>T (p.Pro719Leu) n.1878C>T c.2243C>T (p.Pro748Leu) c.1868C>T (p.Pro623Leu) c.2411C>T (p.Pro804Leu) c.2312C>T (p.Pro771Leu) c.2057C>T (p.Pro686Leu) c.1892C>T (p.Pro631Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467769T>A	CA486542340	KIAA0586	c.2034T>A (p.Pro678=) n.2835T>A c.2289T>A (p.Pro763=) c.1038T>A (p.Pro346=) c.370T>A (n.370T>A) c.393T>A (p.Pro131=) c.1855T>A (n.1855T>A) c.2061T>A (p.Pro687=) c.2448T>A (p.Pro816=) c.2157T>A (p.Pro719=) n.1879T>A c.2244T>A (p.Pro748=) c.1869T>A (p.Pro623=) c.2412T>A (p.Pro804=) c.2313T>A (p.Pro771=) c.2058T>A (p.Pro686=) c.1893T>A (p.Pro631=)
14	g.58467769T>C	CA486542341	KIAA0586	c.2034T>C (p.Pro678=) n.2835T>C c.2289T>C (p.Pro763=) c.1038T>C (p.Pro346=) c.370T>C (n.370T>C) c.393T>C (p.Pro131=) c.1855T>C (n.1855T>C) c.2061T>C (p.Pro687=) c.2448T>C (p.Pro816=) c.2157T>C (p.Pro719=) n.1879T>C c.2244T>C (p.Pro748=) c.1869T>C (p.Pro623=) c.2412T>C (p.Pro804=) c.2313T>C (p.Pro771=) c.2058T>C (p.Pro686=) c.1893T>C (p.Pro631=)
14	g.58467769T>G	CA261637611	KIAA0586	c.2034T>G (p.Pro678=) n.2835T>G c.2289T>G (p.Pro763=) c.1038T>G (p.Pro346=) c.370T>G (n.370T>G) c.393T>G (p.Pro131=) c.1855T>G (n.1855T>G) c.2061T>G (p.Pro687=) c.2448T>G (p.Pro816=) c.2157T>G (p.Pro719=) n.1879T>G c.2244T>G (p.Pro748=) c.1869T>G (p.Pro623=) c.2412T>G (p.Pro804=) c.2313T>G (p.Pro771=) c.2058T>G (p.Pro686=) c.1893T>G (p.Pro631=)	dbSNP
14	g.58467769T=	CA2139919896	KIAA0586	c.2034T= (p.Pro678=) n.2835T= c.2289T= (p.Pro763=) c.1038T= (p.Pro346=) c.370T= (n.370T=) c.393T= (p.Pro131=) c.1855T= (n.1855T=) c.2061T= (p.Pro687=) c.2448T= (p.Pro816=) c.2157T= (p.Pro719=) n.1879T= c.2244T= (p.Pro748=) c.1869T= (p.Pro623=) c.2412T= (p.Pro804=) c.2313T= (p.Pro771=) c.2058T= (p.Pro686=) c.1893T= (p.Pro631=)
14	g.58467770G>A	CA389875046	KIAA0586	c.2035G>A (p.Ala679Thr) n.2836G>A c.2290G>A (p.Ala764Thr) c.1039G>A (p.Ala347Thr) c.371G>A (n.371G>A) c.394G>A (p.Ala132Thr) c.1856G>A (n.1856G>A) c.2062G>A (p.Ala688Thr) c.2449G>A (p.Ala817Thr) c.2158G>A (p.Ala720Thr) n.1880G>A c.2245G>A (p.Ala749Thr) c.1870G>A (p.Ala624Thr) c.2413G>A (p.Ala805Thr) c.2314G>A (p.Ala772Thr) c.2059G>A (p.Ala687Thr) c.1894G>A (p.Ala632Thr)
14	g.58467770G>C	CA389875047	KIAA0586	c.2035G>C (p.Ala679Pro) n.2836G>C c.2290G>C (p.Ala764Pro) c.1039G>C (p.Ala347Pro) c.371G>C (n.371G>C) c.394G>C (p.Ala132Pro) c.1856G>C (n.1856G>C) c.2062G>C (p.Ala688Pro) c.2449G>C (p.Ala817Pro) c.2158G>C (p.Ala720Pro) n.1880G>C c.2245G>C (p.Ala749Pro) c.1870G>C (p.Ala624Pro) c.2413G>C (p.Ala805Pro) c.2314G>C (p.Ala772Pro) c.2059G>C (p.Ala687Pro) c.1894G>C (p.Ala632Pro)
14	g.58467770G>T	CA389875049	KIAA0586	c.2035G>T (p.Ala679Ser) n.2836G>T c.2290G>T (p.Ala764Ser) c.1039G>T (p.Ala347Ser) c.371G>T (n.371G>T) c.394G>T (p.Ala132Ser) c.1856G>T (n.1856G>T) c.2062G>T (p.Ala688Ser) c.2449G>T (p.Ala817Ser) c.2158G>T (p.Ala720Ser) n.1880G>T c.2245G>T (p.Ala749Ser) c.1870G>T (p.Ala624Ser) c.2413G>T (p.Ala805Ser) c.2314G>T (p.Ala772Ser) c.2059G>T (p.Ala687Ser) c.1894G>T (p.Ala632Ser)
14	g.58467771C>A	CA389875051	KIAA0586	c.2036C>A (p.Ala679Asp) n.2837C>A c.2291C>A (p.Ala764Asp) c.1040C>A (p.Ala347Asp) c.372C>A (n.372C>A) c.395C>A (p.Ala132Asp) c.1857C>A (n.1857C>A) c.2063C>A (p.Ala688Asp) c.2450C>A (p.Ala817Asp) c.2159C>A (p.Ala720Asp) n.1881C>A c.2246C>A (p.Ala749Asp) c.1871C>A (p.Ala624Asp) c.2414C>A (p.Ala805Asp) c.2315C>A (p.Ala772Asp) c.2060C>A (p.Ala687Asp) c.1895C>A (p.Ala632Asp)
14	g.58467771C>G	CA389875052	KIAA0586	c.2036C>G (p.Ala679Gly) n.2837C>G c.2291C>G (p.Ala764Gly) c.1040C>G (p.Ala347Gly) c.372C>G (n.372C>G) c.395C>G (p.Ala132Gly) c.1857C>G (n.1857C>G) c.2063C>G (p.Ala688Gly) c.2450C>G (p.Ala817Gly) c.2159C>G (p.Ala720Gly) n.1881C>G c.2246C>G (p.Ala749Gly) c.1871C>G (p.Ala624Gly) c.2414C>G (p.Ala805Gly) c.2315C>G (p.Ala772Gly) c.2060C>G (p.Ala687Gly) c.1895C>G (p.Ala632Gly)
14	g.58467771C>T	CA389875054	KIAA0586	c.2036C>T (p.Ala679Val) n.2837C>T c.2291C>T (p.Ala764Val) c.1040C>T (p.Ala347Val) c.372C>T (n.372C>T) c.395C>T (p.Ala132Val) c.1857C>T (n.1857C>T) c.2063C>T (p.Ala688Val) c.2450C>T (p.Ala817Val) c.2159C>T (p.Ala720Val) n.1881C>T c.2246C>T (p.Ala749Val) c.1871C>T (p.Ala624Val) c.2414C>T (p.Ala805Val) c.2315C>T (p.Ala772Val) c.2060C>T (p.Ala687Val) c.1895C>T (p.Ala632Val)
14	g.58467772T>A	CA486542342	KIAA0586	c.2037T>A (p.Ala679=) n.2838T>A c.2292T>A (p.Ala764=) c.1041T>A (p.Ala347=) c.373T>A (n.373T>A) c.396T>A (p.Ala132=) c.1858T>A (n.1858T>A) c.2064T>A (p.Ala688=) c.2451T>A (p.Ala817=) c.2160T>A (p.Ala720=) n.1882T>A c.2247T>A (p.Ala749=) c.1872T>A (p.Ala624=) c.2415T>A (p.Ala805=) c.2316T>A (p.Ala772=) c.2061T>A (p.Ala687=) c.1896T>A (p.Ala632=)
14	g.58467772T>C	CA486542343	KIAA0586	c.2037T>C (p.Ala679=) n.2838T>C c.2292T>C (p.Ala764=) c.1041T>C (p.Ala347=) c.373T>C (n.373T>C) c.396T>C (p.Ala132=) c.1858T>C (n.1858T>C) c.2064T>C (p.Ala688=) c.2451T>C (p.Ala817=) c.2160T>C (p.Ala720=) n.1882T>C c.2247T>C (p.Ala749=) c.1872T>C (p.Ala624=) c.2415T>C (p.Ala805=) c.2316T>C (p.Ala772=) c.2061T>C (p.Ala687=) c.1896T>C (p.Ala632=)
14	g.58467772T>G	CA486542344	KIAA0586	c.2037T>G (p.Ala679=) n.2838T>G c.2292T>G (p.Ala764=) c.1041T>G (p.Ala347=) c.373T>G (n.373T>G) c.396T>G (p.Ala132=) c.1858T>G (n.1858T>G) c.2064T>G (p.Ala688=) c.2451T>G (p.Ala817=) c.2160T>G (p.Ala720=) n.1882T>G c.2247T>G (p.Ala749=) c.1872T>G (p.Ala624=) c.2415T>G (p.Ala805=) c.2316T>G (p.Ala772=) c.2061T>G (p.Ala687=) c.1896T>G (p.Ala632=)
14	g.58467773G>A	CA389875059	KIAA0586	c.2038G>A (p.Gly680Arg) n.2839G>A c.2293G>A (p.Gly765Arg) c.1042G>A (p.Gly348Arg) c.374G>A (n.374G>A) c.397G>A (p.Gly133Arg) c.1859G>A (n.1859G>A) c.2065G>A (p.Gly689Arg) c.2452G>A (p.Gly818Arg) c.2161G>A (p.Gly721Arg) n.1883G>A c.2248G>A (p.Gly750Arg) c.1873G>A (p.Gly625Arg) c.2416G>A (p.Gly806Arg) c.2317G>A (p.Gly773Arg) c.2062G>A (p.Gly688Arg) c.1897G>A (p.Gly633Arg)	dbSNP gnomAD v3 gnomAD v4
14	g.58467773G>C	CA389875055	KIAA0586	c.2038G>C (p.Gly680Arg) n.2839G>C c.2293G>C (p.Gly765Arg) c.1042G>C (p.Gly348Arg) c.374G>C (n.374G>C) c.397G>C (p.Gly133Arg) c.1859G>C (n.1859G>C) c.2065G>C (p.Gly689Arg) c.2452G>C (p.Gly818Arg) c.2161G>C (p.Gly721Arg) n.1883G>C c.2248G>C (p.Gly750Arg) c.1873G>C (p.Gly625Arg) c.2416G>C (p.Gly806Arg) c.2317G>C (p.Gly773Arg) c.2062G>C (p.Gly688Arg) c.1897G>C (p.Gly633Arg)
14	g.58467773G=	CA2139919899	KIAA0586	c.2038G= (p.Gly680=) n.2839G= c.2293G= (p.Gly765=) c.1042G= (p.Gly348=) c.374G= (n.374G=) c.397G= (p.Gly133=) c.1859G= (n.1859G=) c.2065G= (p.Gly689=) c.2452G= (p.Gly818=) c.2161G= (p.Gly721=) n.1883G= c.2248G= (p.Gly750=) c.1873G= (p.Gly625=) c.2416G= (p.Gly806=) c.2317G= (p.Gly773=) c.2062G= (p.Gly688=) c.1897G= (p.Gly633=)
14	g.58467773G>T	CA389875057	KIAA0586	c.2038G>T (p.Gly680Ter) n.2839G>T c.2293G>T (p.Gly765Ter) c.1042G>T (p.Gly348Ter) c.374G>T (n.374G>T) c.397G>T (p.Gly133Ter) c.1859G>T (n.1859G>T) c.2065G>T (p.Gly689Ter) c.2452G>T (p.Gly818Ter) c.2161G>T (p.Gly721Ter) n.1883G>T c.2248G>T (p.Gly750Ter) c.1873G>T (p.Gly625Ter) c.2416G>T (p.Gly806Ter) c.2317G>T (p.Gly773Ter) c.2062G>T (p.Gly688Ter) c.1897G>T (p.Gly633Ter)
14	g.58467774G>A	CA389875060	KIAA0586	c.2039G>A (p.Gly680Glu) n.2840G>A c.2294G>A (p.Gly765Glu) c.1043G>A (p.Gly348Glu) c.375G>A (n.375G>A) c.398G>A (p.Gly133Glu) c.1860G>A (n.1860G>A) c.2066G>A (p.Gly689Glu) c.2453G>A (p.Gly818Glu) c.2162G>A (p.Gly721Glu) n.1884G>A c.2249G>A (p.Gly750Glu) c.1874G>A (p.Gly625Glu) c.2417G>A (p.Gly806Glu) c.2318G>A (p.Gly773Glu) c.2063G>A (p.Gly688Glu) c.1898G>A (p.Gly633Glu)
14	g.58467774G>C	CA7205838	KIAA0586	c.2039G>C (p.Gly680Ala) n.2840G>C c.2294G>C (p.Gly765Ala) c.1043G>C (p.Gly348Ala) c.375G>C (n.375G>C) c.398G>C (p.Gly133Ala) c.1860G>C (n.1860G>C) c.2066G>C (p.Gly689Ala) c.2453G>C (p.Gly818Ala) c.2162G>C (p.Gly721Ala) n.1884G>C c.2249G>C (p.Gly750Ala) c.1874G>C (p.Gly625Ala) c.2417G>C (p.Gly806Ala) c.2318G>C (p.Gly773Ala) c.2063G>C (p.Gly688Ala) c.1898G>C (p.Gly633Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467774G=	CA2139919901	KIAA0586	c.2039G= (p.Gly680=) n.2840G= c.2294G= (p.Gly765=) c.1043G= (p.Gly348=) c.375G= (n.375G=) c.398G= (p.Gly133=) c.1860G= (n.1860G=) c.2066G= (p.Gly689=) c.2453G= (p.Gly818=) c.2162G= (p.Gly721=) n.1884G= c.2249G= (p.Gly750=) c.1874G= (p.Gly625=) c.2417G= (p.Gly806=) c.2318G= (p.Gly773=) c.2063G= (p.Gly688=) c.1898G= (p.Gly633=)
14	g.58467774G>T	CA389875062	KIAA0586	c.2039G>T (p.Gly680Val) n.2840G>T c.2294G>T (p.Gly765Val) c.1043G>T (p.Gly348Val) c.375G>T (n.375G>T) c.398G>T (p.Gly133Val) c.1860G>T (n.1860G>T) c.2066G>T (p.Gly689Val) c.2453G>T (p.Gly818Val) c.2162G>T (p.Gly721Val) n.1884G>T c.2249G>T (p.Gly750Val) c.1874G>T (p.Gly625Val) c.2417G>T (p.Gly806Val) c.2318G>T (p.Gly773Val) c.2063G>T (p.Gly688Val) c.1898G>T (p.Gly633Val)
14	g.58467775A=	CA2139919906	KIAA0586	c.2040A= (p.Gly680=) n.2841A= c.2295A= (p.Gly765=) c.1044A= (p.Gly348=) c.376A= (n.376A=) c.399A= (p.Gly133=) c.1861A= (n.1861A=) c.2067A= (p.Gly689=) c.2454A= (p.Gly818=) c.2163A= (p.Gly721=) n.1885A= c.2250A= (p.Gly750=) c.1875A= (p.Gly625=) c.2418A= (p.Gly806=) c.2319A= (p.Gly773=) c.2064A= (p.Gly688=) c.1899A= (p.Gly633=)
14	g.58467775A>C	CA261637618	KIAA0586	c.2040A>C (p.Gly680=) n.2841A>C c.2295A>C (p.Gly765=) c.1044A>C (p.Gly348=) c.376A>C (n.376A>C) c.399A>C (p.Gly133=) c.1861A>C (n.1861A>C) c.2067A>C (p.Gly689=) c.2454A>C (p.Gly818=) c.2163A>C (p.Gly721=) n.1885A>C c.2250A>C (p.Gly750=) c.1875A>C (p.Gly625=) c.2418A>C (p.Gly806=) c.2319A>C (p.Gly773=) c.2064A>C (p.Gly688=) c.1899A>C (p.Gly633=)	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.58467775A>G	CA486542346	KIAA0586	c.2040A>G (p.Gly680=) n.2841A>G c.2295A>G (p.Gly765=) c.1044A>G (p.Gly348=) c.376A>G (n.376A>G) c.399A>G (p.Gly133=) c.1861A>G (n.1861A>G) c.2067A>G (p.Gly689=) c.2454A>G (p.Gly818=) c.2163A>G (p.Gly721=) n.1885A>G c.2250A>G (p.Gly750=) c.1875A>G (p.Gly625=) c.2418A>G (p.Gly806=) c.2319A>G (p.Gly773=) c.2064A>G (p.Gly688=) c.1899A>G (p.Gly633=)	gnomAD v4
14	g.58467775A>T	CA486542345	KIAA0586	c.2040A>T (p.Gly680=) n.2841A>T c.2295A>T (p.Gly765=) c.1044A>T (p.Gly348=) c.376A>T (n.376A>T) c.399A>T (p.Gly133=) c.1861A>T (n.1861A>T) c.2067A>T (p.Gly689=) c.2454A>T (p.Gly818=) c.2163A>T (p.Gly721=) n.1885A>T c.2250A>T (p.Gly750=) c.1875A>T (p.Gly625=) c.2418A>T (p.Gly806=) c.2319A>T (p.Gly773=) c.2064A>T (p.Gly688=) c.1899A>T (p.Gly633=)
14	g.58467776G>A	CA389875064	KIAA0586	c.2041G>A (p.Val681Met) n.2842G>A c.2296G>A (p.Val766Met) c.1045G>A (p.Val349Met) c.377G>A (n.377G>A) c.400G>A (p.Val134Met) c.1862G>A (n.1862G>A) c.2068G>A (p.Val690Met) c.2455G>A (p.Val819Met) c.2164G>A (p.Val722Met) n.1886G>A c.2251G>A (p.Val751Met) c.1876G>A (p.Val626Met) c.2419G>A (p.Val807Met) c.2320G>A (p.Val774Met) c.2065G>A (p.Val689Met) c.1900G>A (p.Val634Met)
14	g.58467776G>C	CA389875066	KIAA0586	c.2041G>C (p.Val681Leu) n.2842G>C c.2296G>C (p.Val766Leu) c.1045G>C (p.Val349Leu) c.377G>C (n.377G>C) c.400G>C (p.Val134Leu) c.1862G>C (n.1862G>C) c.2068G>C (p.Val690Leu) c.2455G>C (p.Val819Leu) c.2164G>C (p.Val722Leu) n.1886G>C c.2251G>C (p.Val751Leu) c.1876G>C (p.Val626Leu) c.2419G>C (p.Val807Leu) c.2320G>C (p.Val774Leu) c.2065G>C (p.Val689Leu) c.1900G>C (p.Val634Leu)
14	g.58467776G>T	CA389875068	KIAA0586	c.2041G>T (p.Val681Leu) n.2842G>T c.2296G>T (p.Val766Leu) c.1045G>T (p.Val349Leu) c.377G>T (n.377G>T) c.400G>T (p.Val134Leu) c.1862G>T (n.1862G>T) c.2068G>T (p.Val690Leu) c.2455G>T (p.Val819Leu) c.2164G>T (p.Val722Leu) n.1886G>T c.2251G>T (p.Val751Leu) c.1876G>T (p.Val626Leu) c.2419G>T (p.Val807Leu) c.2320G>T (p.Val774Leu) c.2065G>T (p.Val689Leu) c.1900G>T (p.Val634Leu)
14	g.58467777T>A	CA389875069	KIAA0586	c.2042T>A (p.Val681Glu) n.2843T>A c.2297T>A (p.Val766Glu) c.1046T>A (p.Val349Glu) c.378T>A (n.378T>A) c.401T>A (p.Val134Glu) c.1863T>A (n.1863T>A) c.2069T>A (p.Val690Glu) c.2456T>A (p.Val819Glu) c.2165T>A (p.Val722Glu) n.1887T>A c.2252T>A (p.Val751Glu) c.1877T>A (p.Val626Glu) c.2420T>A (p.Val807Glu) c.2321T>A (p.Val774Glu) c.2066T>A (p.Val689Glu) c.1901T>A (p.Val634Glu)
14	g.58467777T>C	CA389875071	KIAA0586	c.2042T>C (p.Val681Ala) n.2843T>C c.2297T>C (p.Val766Ala) c.1046T>C (p.Val349Ala) c.378T>C (n.378T>C) c.401T>C (p.Val134Ala) c.1863T>C (n.1863T>C) c.2069T>C (p.Val690Ala) c.2456T>C (p.Val819Ala) c.2165T>C (p.Val722Ala) n.1887T>C c.2252T>C (p.Val751Ala) c.1877T>C (p.Val626Ala) c.2420T>C (p.Val807Ala) c.2321T>C (p.Val774Ala) c.2066T>C (p.Val689Ala) c.1901T>C (p.Val634Ala)
14	g.58467777T>G	CA389875072	KIAA0586	c.2042T>G (p.Val681Gly) n.2843T>G c.2297T>G (p.Val766Gly) c.1046T>G (p.Val349Gly) c.378T>G (n.378T>G) c.401T>G (p.Val134Gly) c.1863T>G (n.1863T>G) c.2069T>G (p.Val690Gly) c.2456T>G (p.Val819Gly) c.2165T>G (p.Val722Gly) n.1887T>G c.2252T>G (p.Val751Gly) c.1877T>G (p.Val626Gly) c.2420T>G (p.Val807Gly) c.2321T>G (p.Val774Gly) c.2066T>G (p.Val689Gly) c.1901T>G (p.Val634Gly)
14	g.58467778G>A	CA486542347	KIAA0586	c.2043G>A (p.Val681=) n.2844G>A c.2298G>A (p.Val766=) c.1047G>A (p.Val349=) c.379G>A (n.379G>A) c.402G>A (p.Val134=) c.1864G>A (n.1864G>A) c.2070G>A (p.Val690=) c.2457G>A (p.Val819=) c.2166G>A (p.Val722=) n.1888G>A c.2253G>A (p.Val751=) c.1878G>A (p.Val626=) c.2421G>A (p.Val807=) c.2322G>A (p.Val774=) c.2067G>A (p.Val689=) c.1902G>A (p.Val634=)	dbSNP gnomAD v2 gnomAD v4
14	g.58467778G>C	CA486542348	KIAA0586	c.2043G>C (p.Val681=) n.2844G>C c.2298G>C (p.Val766=) c.1047G>C (p.Val349=) c.379G>C (n.379G>C) c.402G>C (p.Val134=) c.1864G>C (n.1864G>C) c.2070G>C (p.Val690=) c.2457G>C (p.Val819=) c.2166G>C (p.Val722=) n.1888G>C c.2253G>C (p.Val751=) c.1878G>C (p.Val626=) c.2421G>C (p.Val807=) c.2322G>C (p.Val774=) c.2067G>C (p.Val689=) c.1902G>C (p.Val634=)
14	g.58467778G=	CA2139919908	KIAA0586	c.2043G= (p.Val681=) n.2844G= c.2298G= (p.Val766=) c.1047G= (p.Val349=) c.379G= (n.379G=) c.402G= (p.Val134=) c.1864G= (n.1864G=) c.2070G= (p.Val690=) c.2457G= (p.Val819=) c.2166G= (p.Val722=) n.1888G= c.2253G= (p.Val751=) c.1878G= (p.Val626=) c.2421G= (p.Val807=) c.2322G= (p.Val774=) c.2067G= (p.Val689=) c.1902G= (p.Val634=)
14	g.58467778G>T	CA486542349	KIAA0586	c.2043G>T (p.Val681=) n.2844G>T c.2298G>T (p.Val766=) c.1047G>T (p.Val349=) c.379G>T (n.379G>T) c.402G>T (p.Val134=) c.1864G>T (n.1864G>T) c.2070G>T (p.Val690=) c.2457G>T (p.Val819=) c.2166G>T (p.Val722=) n.1888G>T c.2253G>T (p.Val751=) c.1878G>T (p.Val626=) c.2421G>T (p.Val807=) c.2322G>T (p.Val774=) c.2067G>T (p.Val689=) c.1902G>T (p.Val634=)
14	g.58467779A>C	CA389875077	KIAA0586	c.2044A>C (p.Ile682Leu) n.2845A>C c.2299A>C (p.Ile767Leu) c.1048A>C (p.Ile350Leu) c.380A>C (n.380A>C) c.403A>C (p.Ile135Leu) c.1865A>C (n.1865A>C) c.2071A>C (p.Ile691Leu) c.2458A>C (p.Ile820Leu) c.2167A>C (p.Ile723Leu) n.1889A>C c.2254A>C (p.Ile752Leu) c.1879A>C (p.Ile627Leu) c.2422A>C (p.Ile808Leu) c.2323A>C (p.Ile775Leu) c.2068A>C (p.Ile690Leu) c.1903A>C (p.Ile635Leu)
14	g.58467779A>G	CA389875075	KIAA0586	c.2044A>G (p.Ile682Val) n.2845A>G c.2299A>G (p.Ile767Val) c.1048A>G (p.Ile350Val) c.380A>G (n.380A>G) c.403A>G (p.Ile135Val) c.1865A>G (n.1865A>G) c.2071A>G (p.Ile691Val) c.2458A>G (p.Ile820Val) c.2167A>G (p.Ile723Val) n.1889A>G c.2254A>G (p.Ile752Val) c.1879A>G (p.Ile627Val) c.2422A>G (p.Ile808Val) c.2323A>G (p.Ile775Val) c.2068A>G (p.Ile690Val) c.1903A>G (p.Ile635Val)
14	g.58467779A>T	CA389875074	KIAA0586	c.2044A>T (p.Ile682Phe) n.2845A>T c.2299A>T (p.Ile767Phe) c.1048A>T (p.Ile350Phe) c.380A>T (n.380A>T) c.403A>T (p.Ile135Phe) c.1865A>T (n.1865A>T) c.2071A>T (p.Ile691Phe) c.2458A>T (p.Ile820Phe) c.2167A>T (p.Ile723Phe) n.1889A>T c.2254A>T (p.Ile752Phe) c.1879A>T (p.Ile627Phe) c.2422A>T (p.Ile808Phe) c.2323A>T (p.Ile775Phe) c.2068A>T (p.Ile690Phe) c.1903A>T (p.Ile635Phe)
14	g.58467780T>A	CA389875079	KIAA0586	c.2045T>A (p.Ile682Asn) n.2846T>A c.2300T>A (p.Ile767Asn) c.1049T>A (p.Ile350Asn) c.381T>A (n.381T>A) c.404T>A (p.Ile135Asn) c.1866T>A (n.1866T>A) c.2072T>A (p.Ile691Asn) c.2459T>A (p.Ile820Asn) c.2168T>A (p.Ile723Asn) n.1890T>A c.2255T>A (p.Ile752Asn) c.1880T>A (p.Ile627Asn) c.2423T>A (p.Ile808Asn) c.2324T>A (p.Ile775Asn) c.2069T>A (p.Ile690Asn) c.1904T>A (p.Ile635Asn)
14	g.58467780T>C	CA389875080	KIAA0586	c.2045T>C (p.Ile682Thr) n.2846T>C c.2300T>C (p.Ile767Thr) c.1049T>C (p.Ile350Thr) c.381T>C (n.381T>C) c.404T>C (p.Ile135Thr) c.1866T>C (n.1866T>C) c.2072T>C (p.Ile691Thr) c.2459T>C (p.Ile820Thr) c.2168T>C (p.Ile723Thr) n.1890T>C c.2255T>C (p.Ile752Thr) c.1880T>C (p.Ile627Thr) c.2423T>C (p.Ile808Thr) c.2324T>C (p.Ile775Thr) c.2069T>C (p.Ile690Thr) c.1904T>C (p.Ile635Thr)	dbSNP gnomAD v4
14	g.58467780T>G	CA389875082	KIAA0586	c.2045T>G (p.Ile682Ser) n.2846T>G c.2300T>G (p.Ile767Ser) c.1049T>G (p.Ile350Ser) c.381T>G (n.381T>G) c.404T>G (p.Ile135Ser) c.1866T>G (n.1866T>G) c.2072T>G (p.Ile691Ser) c.2459T>G (p.Ile820Ser) c.2168T>G (p.Ile723Ser) n.1890T>G c.2255T>G (p.Ile752Ser) c.1880T>G (p.Ile627Ser) c.2423T>G (p.Ile808Ser) c.2324T>G (p.Ile775Ser) c.2069T>G (p.Ile690Ser) c.1904T>G (p.Ile635Ser)
14	g.58467780T=	CA2139919912	KIAA0586	c.2045T= (p.Ile682=) n.2846T= c.2300T= (p.Ile767=) c.1049T= (p.Ile350=) c.381T= (n.381T=) c.404T= (p.Ile135=) c.1866T= (n.1866T=) c.2072T= (p.Ile691=) c.2459T= (p.Ile820=) c.2168T= (p.Ile723=) n.1890T= c.2255T= (p.Ile752=) c.1880T= (p.Ile627=) c.2423T= (p.Ile808=) c.2324T= (p.Ile775=) c.2069T= (p.Ile690=) c.1904T= (p.Ile635=)
14	g.58467781T>A	CA486542350	KIAA0586	c.2046T>A (p.Ile682=) n.2847T>A c.2301T>A (p.Ile767=) c.1050T>A (p.Ile350=) c.382T>A (n.382T>A) c.405T>A (p.Ile135=) c.1867T>A (n.1867T>A) c.2073T>A (p.Ile691=) c.2460T>A (p.Ile820=) c.2169T>A (p.Ile723=) n.1891T>A c.2256T>A (p.Ile752=) c.1881T>A (p.Ile627=) c.2424T>A (p.Ile808=) c.2325T>A (p.Ile775=) c.2070T>A (p.Ile690=) c.1905T>A (p.Ile635=)
14	g.58467781T>C	CA486542352	KIAA0586	c.2046T>C (p.Ile682=) n.2847T>C c.2301T>C (p.Ile767=) c.1050T>C (p.Ile350=) c.382T>C (n.382T>C) c.405T>C (p.Ile135=) c.1867T>C (n.1867T>C) c.2073T>C (p.Ile691=) c.2460T>C (p.Ile820=) c.2169T>C (p.Ile723=) n.1891T>C c.2256T>C (p.Ile752=) c.1881T>C (p.Ile627=) c.2424T>C (p.Ile808=) c.2325T>C (p.Ile775=) c.2070T>C (p.Ile690=) c.1905T>C (p.Ile635=)	gnomAD v4
14	g.58467781T>G	CA389875084	KIAA0586	c.2046T>G (p.Ile682Met) n.2847T>G c.2301T>G (p.Ile767Met) c.1050T>G (p.Ile350Met) c.382T>G (n.382T>G) c.405T>G (p.Ile135Met) c.1867T>G (n.1867T>G) c.2073T>G (p.Ile691Met) c.2460T>G (p.Ile820Met) c.2169T>G (p.Ile723Met) n.1891T>G c.2256T>G (p.Ile752Met) c.1881T>G (p.Ile627Met) c.2424T>G (p.Ile808Met) c.2325T>G (p.Ile775Met) c.2070T>G (p.Ile690Met) c.1905T>G (p.Ile635Met)
14	g.58467782G>A	CA389875085	KIAA0586	c.2047G>A (p.Val683Ile) n.2848G>A c.2302G>A (p.Val768Ile) c.1051G>A (p.Val351Ile) c.383G>A (n.383G>A) c.406G>A (p.Val136Ile) c.1868G>A (n.1868G>A) c.2074G>A (p.Val692Ile) c.2461G>A (p.Val821Ile) c.2170G>A (p.Val724Ile) n.1892G>A c.2257G>A (p.Val753Ile) c.1882G>A (p.Val628Ile) c.2425G>A (p.Val809Ile) c.2326G>A (p.Val776Ile) c.2071G>A (p.Val691Ile) c.1906G>A (p.Val636Ile)
14	g.58467782G>C	CA389875086	KIAA0586	c.2047G>C (p.Val683Leu) n.2848G>C c.2302G>C (p.Val768Leu) c.1051G>C (p.Val351Leu) c.383G>C (n.383G>C) c.406G>C (p.Val136Leu) c.1868G>C (n.1868G>C) c.2074G>C (p.Val692Leu) c.2461G>C (p.Val821Leu) c.2170G>C (p.Val724Leu) n.1892G>C c.2257G>C (p.Val753Leu) c.1882G>C (p.Val628Leu) c.2425G>C (p.Val809Leu) c.2326G>C (p.Val776Leu) c.2071G>C (p.Val691Leu) c.1906G>C (p.Val636Leu)
14	g.58467782G>T	CA389875088	KIAA0586	c.2047G>T (p.Val683Phe) n.2848G>T c.2302G>T (p.Val768Phe) c.1051G>T (p.Val351Phe) c.383G>T (n.383G>T) c.406G>T (p.Val136Phe) c.1868G>T (n.1868G>T) c.2074G>T (p.Val692Phe) c.2461G>T (p.Val821Phe) c.2170G>T (p.Val724Phe) n.1892G>T c.2257G>T (p.Val753Phe) c.1882G>T (p.Val628Phe) c.2425G>T (p.Val809Phe) c.2326G>T (p.Val776Phe) c.2071G>T (p.Val691Phe) c.1906G>T (p.Val636Phe)
14	g.58467783T>A	CA389875090	KIAA0586	c.2048T>A (p.Val683Asp) n.2849T>A c.2303T>A (p.Val768Asp) c.1052T>A (p.Val351Asp) c.384T>A (n.384T>A) c.407T>A (p.Val136Asp) c.1869T>A (n.1869T>A) c.2075T>A (p.Val692Asp) c.2462T>A (p.Val821Asp) c.2171T>A (p.Val724Asp) n.1893T>A c.2258T>A (p.Val753Asp) c.1883T>A (p.Val628Asp) c.2426T>A (p.Val809Asp) c.2327T>A (p.Val776Asp) c.2072T>A (p.Val691Asp) c.1907T>A (p.Val636Asp)
14	g.58467783T>C	CA389875092	KIAA0586	c.2048T>C (p.Val683Ala) n.2849T>C c.2303T>C (p.Val768Ala) c.1052T>C (p.Val351Ala) c.384T>C (n.384T>C) c.407T>C (p.Val136Ala) c.1869T>C (n.1869T>C) c.2075T>C (p.Val692Ala) c.2462T>C (p.Val821Ala) c.2171T>C (p.Val724Ala) n.1893T>C c.2258T>C (p.Val753Ala) c.1883T>C (p.Val628Ala) c.2426T>C (p.Val809Ala) c.2327T>C (p.Val776Ala) c.2072T>C (p.Val691Ala) c.1907T>C (p.Val636Ala)
14	g.58467783T>G	CA389875094	KIAA0586	c.2048T>G (p.Val683Gly) n.2849T>G c.2303T>G (p.Val768Gly) c.1052T>G (p.Val351Gly) c.384T>G (n.384T>G) c.407T>G (p.Val136Gly) c.1869T>G (n.1869T>G) c.2075T>G (p.Val692Gly) c.2462T>G (p.Val821Gly) c.2171T>G (p.Val724Gly) n.1893T>G c.2258T>G (p.Val753Gly) c.1883T>G (p.Val628Gly) c.2426T>G (p.Val809Gly) c.2327T>G (p.Val776Gly) c.2072T>G (p.Val691Gly) c.1907T>G (p.Val636Gly)	gnomAD v4
14	g.58467784C>A	CA486542354	KIAA0586	c.2049C>A (p.Val683=) n.2850C>A c.2304C>A (p.Val768=) c.1053C>A (p.Val351=) c.385C>A (n.385C>A) c.408C>A (p.Val136=) c.1870C>A (n.1870C>A) c.2076C>A (p.Val692=) c.2463C>A (p.Val821=) c.2172C>A (p.Val724=) n.1894C>A c.2259C>A (p.Val753=) c.1884C>A (p.Val628=) c.2427C>A (p.Val809=) c.2328C>A (p.Val776=) c.2073C>A (p.Val691=) c.1908C>A (p.Val636=)
14	g.58467784C=	CA2139919916	KIAA0586	c.2049C= (p.Val683=) n.2850C= c.2304C= (p.Val768=) c.1053C= (p.Val351=) c.385C= (n.385C=) c.408C= (p.Val136=) c.1870C= (n.1870C=) c.2076C= (p.Val692=) c.2463C= (p.Val821=) c.2172C= (p.Val724=) n.1894C= c.2259C= (p.Val753=) c.1884C= (p.Val628=) c.2427C= (p.Val809=) c.2328C= (p.Val776=) c.2073C= (p.Val691=) c.1908C= (p.Val636=)
14	g.58467784C>G	CA486542355	KIAA0586	c.2049C>G (p.Val683=) n.2850C>G c.2304C>G (p.Val768=) c.1053C>G (p.Val351=) c.385C>G (n.385C>G) c.408C>G (p.Val136=) c.1870C>G (n.1870C>G) c.2076C>G (p.Val692=) c.2463C>G (p.Val821=) c.2172C>G (p.Val724=) n.1894C>G c.2259C>G (p.Val753=) c.1884C>G (p.Val628=) c.2427C>G (p.Val809=) c.2328C>G (p.Val776=) c.2073C>G (p.Val691=) c.1908C>G (p.Val636=)	COSMIC COSMIC
14	g.58467784C>T	CA486542356	KIAA0586	c.2049C>T (p.Val683=) n.2850C>T c.2304C>T (p.Val768=) c.1053C>T (p.Val351=) c.385C>T (n.385C>T) c.408C>T (p.Val136=) c.1870C>T (n.1870C>T) c.2076C>T (p.Val692=) c.2463C>T (p.Val821=) c.2172C>T (p.Val724=) n.1894C>T c.2259C>T (p.Val753=) c.1884C>T (p.Val628=) c.2427C>T (p.Val809=) c.2328C>T (p.Val776=) c.2073C>T (p.Val691=) c.1908C>T (p.Val636=)	ClinVar dbSNP gnomAD v3 gnomAD v4
14	g.58467785A>C	CA389875096	KIAA0586	c.2050A>C (p.Ser684Arg) n.2851A>C c.2305A>C (p.Ser769Arg) c.1054A>C (p.Ser352Arg) c.386A>C (n.386A>C) c.409A>C (p.Ser137Arg) c.1871A>C (n.1871A>C) c.2077A>C (p.Ser693Arg) c.2464A>C (p.Ser822Arg) c.2173A>C (p.Ser725Arg) n.1895A>C c.2260A>C (p.Ser754Arg) c.1885A>C (p.Ser629Arg) c.2428A>C (p.Ser810Arg) c.2329A>C (p.Ser777Arg) c.2074A>C (p.Ser692Arg) c.1909A>C (p.Ser637Arg)
14	g.58467785A>G	CA389875097	KIAA0586	c.2050A>G (p.Ser684Gly) n.2851A>G c.2305A>G (p.Ser769Gly) c.1054A>G (p.Ser352Gly) c.386A>G (n.386A>G) c.409A>G (p.Ser137Gly) c.1871A>G (n.1871A>G) c.2077A>G (p.Ser693Gly) c.2464A>G (p.Ser822Gly) c.2173A>G (p.Ser725Gly) n.1895A>G c.2260A>G (p.Ser754Gly) c.1885A>G (p.Ser629Gly) c.2428A>G (p.Ser810Gly) c.2329A>G (p.Ser777Gly) c.2074A>G (p.Ser692Gly) c.1909A>G (p.Ser637Gly)	gnomAD v4
14	g.58467785A>T	CA389875099	KIAA0586	c.2050A>T (p.Ser684Cys) n.2851A>T c.2305A>T (p.Ser769Cys) c.1054A>T (p.Ser352Cys) c.386A>T (n.386A>T) c.409A>T (p.Ser137Cys) c.1871A>T (n.1871A>T) c.2077A>T (p.Ser693Cys) c.2464A>T (p.Ser822Cys) c.2173A>T (p.Ser725Cys) n.1895A>T c.2260A>T (p.Ser754Cys) c.1885A>T (p.Ser629Cys) c.2428A>T (p.Ser810Cys) c.2329A>T (p.Ser777Cys) c.2074A>T (p.Ser692Cys) c.1909A>T (p.Ser637Cys)
14	g.58467785dup	CA2575540041	KIAA0586	c.2050dup (p.Ser684LysfsTer27) n.2851dup c.2305dup (p.Ser769LysfsTer27) c.1054dup (p.Ser352LysfsTer27) c.386dup (n.386dup) c.409dup (p.Ser137LysfsTer27) c.1871dup (n.1871dup) c.2077dup (p.Ser693LysfsTer27) c.2464dup (p.Ser822LysfsTer27) c.2173dup (p.Ser725LysfsTer27) n.1895dup c.2260dup (p.Ser754LysfsTer27) c.1885dup (p.Ser629LysfsTer27) c.2428dup (p.Ser810LysfsTer27) c.2329dup (p.Ser777LysfsTer27) c.2074dup (p.Ser692LysfsTer27) c.1909dup (p.Ser637LysfsTer27)
14	g.58467786G>A	CA389875106	KIAA0586	c.2051G>A (p.Ser684Asn) n.2852G>A c.2306G>A (p.Ser769Asn) c.1055G>A (p.Ser352Asn) c.387G>A (n.387G>A) c.410G>A (p.Ser137Asn) c.1872G>A (n.1872G>A) c.2078G>A (p.Ser693Asn) c.2465G>A (p.Ser822Asn) c.2174G>A (p.Ser725Asn) n.1896G>A c.2261G>A (p.Ser754Asn) c.1886G>A (p.Ser629Asn) c.2429G>A (p.Ser810Asn) c.2330G>A (p.Ser777Asn) c.2075G>A (p.Ser692Asn) c.1910G>A (p.Ser637Asn)
14	g.58467786G>C	CA389875102	KIAA0586	c.2051G>C (p.Ser684Thr) n.2852G>C c.2306G>C (p.Ser769Thr) c.1055G>C (p.Ser352Thr) c.387G>C (n.387G>C) c.410G>C (p.Ser137Thr) c.1872G>C (n.1872G>C) c.2078G>C (p.Ser693Thr) c.2465G>C (p.Ser822Thr) c.2174G>C (p.Ser725Thr) n.1896G>C c.2261G>C (p.Ser754Thr) c.1886G>C (p.Ser629Thr) c.2429G>C (p.Ser810Thr) c.2330G>C (p.Ser777Thr) c.2075G>C (p.Ser692Thr) c.1910G>C (p.Ser637Thr)
14	g.58467786G>T	CA389875101	KIAA0586	c.2051G>T (p.Ser684Ile) n.2852G>T c.2306G>T (p.Ser769Ile) c.1055G>T (p.Ser352Ile) c.387G>T (n.387G>T) c.410G>T (p.Ser137Ile) c.1872G>T (n.1872G>T) c.2078G>T (p.Ser693Ile) c.2465G>T (p.Ser822Ile) c.2174G>T (p.Ser725Ile) n.1896G>T c.2261G>T (p.Ser754Ile) c.1886G>T (p.Ser629Ile) c.2429G>T (p.Ser810Ile) c.2330G>T (p.Ser777Ile) c.2075G>T (p.Ser692Ile) c.1910G>T (p.Ser637Ile)
14	g.58467786_58467787del	CA645582181	KIAA0586	c.2051_2052del (p.Ser684LysfsTer26) n.2852_2853del c.2306_2307del (p.Ser769LysfsTer26) c.1055_1056del (p.Ser352LysfsTer26) c.387_388del (n.387_388del) c.410_411del (p.Ser137LysfsTer26) c.1872_1873del (n.1872_1873del) c.2078_2079del (p.Ser693LysfsTer26) c.2465_2466del (p.Ser822LysfsTer26) c.2174_2175del (p.Ser725LysfsTer26) n.1896_1897del c.2261_2262del (p.Ser754LysfsTer26) c.1886_1887del (p.Ser629LysfsTer26) c.2429_2430del (p.Ser810LysfsTer26) c.2330_2331del (p.Ser777LysfsTer26) c.2075_2076del (p.Ser692LysfsTer26) c.1910_1911del (p.Ser637LysfsTer26)	COSMIC COSMIC
14	g.58467787C>A	CA7205839	KIAA0586	c.2052C>A (p.Ser684Arg) n.2853C>A c.2307C>A (p.Ser769Arg) c.1056C>A (p.Ser352Arg) c.388C>A (n.388C>A) c.411C>A (p.Ser137Arg) c.1873C>A (n.1873C>A) c.2079C>A (p.Ser693Arg) c.2466C>A (p.Ser822Arg) c.2175C>A (p.Ser725Arg) n.1897C>A c.2262C>A (p.Ser754Arg) c.1887C>A (p.Ser629Arg) c.2430C>A (p.Ser810Arg) c.2331C>A (p.Ser777Arg) c.2076C>A (p.Ser692Arg) c.1911C>A (p.Ser637Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.58467787C=	CA2139919920	KIAA0586	c.2052C= (p.Ser684=) n.2853C= c.2307C= (p.Ser769=) c.1056C= (p.Ser352=) c.388C= (n.388C=) c.411C= (p.Ser137=) c.1873C= (n.1873C=) c.2079C= (p.Ser693=) c.2466C= (p.Ser822=) c.2175C= (p.Ser725=) n.1897C= c.2262C= (p.Ser754=) c.1887C= (p.Ser629=) c.2430C= (p.Ser810=) c.2331C= (p.Ser777=) c.2076C= (p.Ser692=) c.1911C= (p.Ser637=)
14	g.58467787C>G	CA389875109	KIAA0586	c.2052C>G (p.Ser684Arg) n.2853C>G c.2307C>G (p.Ser769Arg) c.1056C>G (p.Ser352Arg) c.388C>G (n.388C>G) c.411C>G (p.Ser137Arg) c.1873C>G (n.1873C>G) c.2079C>G (p.Ser693Arg) c.2466C>G (p.Ser822Arg) c.2175C>G (p.Ser725Arg) n.1897C>G c.2262C>G (p.Ser754Arg) c.1887C>G (p.Ser629Arg) c.2430C>G (p.Ser810Arg) c.2331C>G (p.Ser777Arg) c.2076C>G (p.Ser692Arg) c.1911C>G (p.Ser637Arg)
14	g.58467787C>T	CA486542357	KIAA0586	c.2052C>T (p.Ser684=) n.2853C>T c.2307C>T (p.Ser769=) c.1056C>T (p.Ser352=) c.388C>T (n.388C>T) c.411C>T (p.Ser137=) c.1873C>T (n.1873C>T) c.2079C>T (p.Ser693=) c.2466C>T (p.Ser822=) c.2175C>T (p.Ser725=) n.1897C>T c.2262C>T (p.Ser754=) c.1887C>T (p.Ser629=) c.2430C>T (p.Ser810=) c.2331C>T (p.Ser777=) c.2076C>T (p.Ser692=) c.1911C>T (p.Ser637=)	dbSNP gnomAD v2 gnomAD v4
14	g.58467788A>C	CA389875110	KIAA0586	c.2053A>C (p.Lys685Gln) n.2854A>C c.2308A>C (p.Lys770Gln) c.1057A>C (p.Lys353Gln) c.389A>C (n.389A>C) c.412A>C (p.Lys138Gln) c.1874A>C (n.1874A>C) c.2080A>C (p.Lys694Gln) c.2467A>C (p.Lys823Gln) c.2176A>C (p.Lys726Gln) n.1898A>C c.2263A>C (p.Lys755Gln) c.1888A>C (p.Lys630Gln) c.2431A>C (p.Lys811Gln) c.2332A>C (p.Lys778Gln) c.2077A>C (p.Lys693Gln) c.1912A>C (p.Lys638Gln)
14	g.58467788A>G	CA389875112	KIAA0586	c.2053A>G (p.Lys685Glu) n.2854A>G c.2308A>G (p.Lys770Glu) c.1057A>G (p.Lys353Glu) c.389A>G (n.389A>G) c.412A>G (p.Lys138Glu) c.1874A>G (n.1874A>G) c.2080A>G (p.Lys694Glu) c.2467A>G (p.Lys823Glu) c.2176A>G (p.Lys726Glu) n.1898A>G c.2263A>G (p.Lys755Glu) c.1888A>G (p.Lys630Glu) c.2431A>G (p.Lys811Glu) c.2332A>G (p.Lys778Glu) c.2077A>G (p.Lys693Glu) c.1912A>G (p.Lys638Glu)
14	g.58467788A>T	CA389875113	KIAA0586	c.2053A>T (p.Lys685Ter) n.2854A>T c.2308A>T (p.Lys770Ter) c.1057A>T (p.Lys353Ter) c.389A>T (n.389A>T) c.412A>T (p.Lys138Ter) c.1874A>T (n.1874A>T) c.2080A>T (p.Lys694Ter) c.2467A>T (p.Lys823Ter) c.2176A>T (p.Lys726Ter) n.1898A>T c.2263A>T (p.Lys755Ter) c.1888A>T (p.Lys630Ter) c.2431A>T (p.Lys811Ter) c.2332A>T (p.Lys778Ter) c.2077A>T (p.Lys693Ter) c.1912A>T (p.Lys638Ter)
14	g.58467789A=	CA2139919925	KIAA0586	c.2054A= (p.Lys685=) n.2855A= c.2309A= (p.Lys770=) c.1058A= (p.Lys353=) c.390A= (n.390A=) c.413A= (p.Lys138=) c.1875A= (n.1875A=) c.2081A= (p.Lys694=) c.2468A= (p.Lys823=) c.2177A= (p.Lys726=) n.1899A= c.2264A= (p.Lys755=) c.1889A= (p.Lys630=) c.2432A= (p.Lys811=) c.2333A= (p.Lys778=) c.2078A= (p.Lys693=) c.1913A= (p.Lys638=)
14	g.58467789A>C	CA389875114	KIAA0586	c.2054A>C (p.Lys685Thr) n.2855A>C c.2309A>C (p.Lys770Thr) c.1058A>C (p.Lys353Thr) c.390A>C (n.390A>C) c.413A>C (p.Lys138Thr) c.1875A>C (n.1875A>C) c.2081A>C (p.Lys694Thr) c.2468A>C (p.Lys823Thr) c.2177A>C (p.Lys726Thr) n.1899A>C c.2264A>C (p.Lys755Thr) c.1889A>C (p.Lys630Thr) c.2432A>C (p.Lys811Thr) c.2333A>C (p.Lys778Thr) c.2078A>C (p.Lys693Thr) c.1913A>C (p.Lys638Thr)
14	g.58467789A>G	CA7205840	KIAA0586	c.2054A>G (p.Lys685Arg) n.2855A>G c.2309A>G (p.Lys770Arg) c.1058A>G (p.Lys353Arg) c.390A>G (n.390A>G) c.413A>G (p.Lys138Arg) c.1875A>G (n.1875A>G) c.2081A>G (p.Lys694Arg) c.2468A>G (p.Lys823Arg) c.2177A>G (p.Lys726Arg) n.1899A>G c.2264A>G (p.Lys755Arg) c.1889A>G (p.Lys630Arg) c.2432A>G (p.Lys811Arg) c.2333A>G (p.Lys778Arg) c.2078A>G (p.Lys693Arg) c.1913A>G (p.Lys638Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.58467789A>T	CA389875116	KIAA0586	c.2054A>T (p.Lys685Met) n.2855A>T c.2309A>T (p.Lys770Met) c.1058A>T (p.Lys353Met) c.390A>T (n.390A>T) c.413A>T (p.Lys138Met) c.1875A>T (n.1875A>T) c.2081A>T (p.Lys694Met) c.2468A>T (p.Lys823Met) c.2177A>T (p.Lys726Met) n.1899A>T c.2264A>T (p.Lys755Met) c.1889A>T (p.Lys630Met) c.2432A>T (p.Lys811Met) c.2333A>T (p.Lys778Met) c.2078A>T (p.Lys693Met) c.1913A>T (p.Lys638Met)	dbSNP
14	g.58467790G>A	CA486542359	KIAA0586	c.2055G>A (p.Lys685=) n.2856G>A c.2310G>A (p.Lys770=) c.1059G>A (p.Lys353=) c.391G>A (n.391G>A) c.414G>A (p.Lys138=) c.1876G>A (n.1876G>A) c.2082G>A (p.Lys694=) c.2469G>A (p.Lys823=) c.2178G>A (p.Lys726=) n.1900G>A c.2265G>A (p.Lys755=) c.1890G>A (p.Lys630=) c.2433G>A (p.Lys811=) c.2334G>A (p.Lys778=) c.2079G>A (p.Lys693=) c.1914G>A (p.Lys638=)	gnomAD v4
14	g.58467790G>C	CA389875118	KIAA0586	c.2055G>C (p.Lys685Asn) n.2856G>C c.2310G>C (p.Lys770Asn) c.1059G>C (p.Lys353Asn) c.391G>C (n.391G>C) c.414G>C (p.Lys138Asn) c.1876G>C (n.1876G>C) c.2082G>C (p.Lys694Asn) c.2469G>C (p.Lys823Asn) c.2178G>C (p.Lys726Asn) n.1900G>C c.2265G>C (p.Lys755Asn) c.1890G>C (p.Lys630Asn) c.2433G>C (p.Lys811Asn) c.2334G>C (p.Lys778Asn) c.2079G>C (p.Lys693Asn) c.1914G>C (p.Lys638Asn)
14	g.58467790G=	CA2139919931	KIAA0586	c.2055G= (p.Lys685=) n.2856G= c.2310G= (p.Lys770=) c.1059G= (p.Lys353=) c.391G= (n.391G=) c.414G= (p.Lys138=) c.1876G= (n.1876G=) c.2082G= (p.Lys694=) c.2469G= (p.Lys823=) c.2178G= (p.Lys726=) n.1900G= c.2265G= (p.Lys755=) c.1890G= (p.Lys630=) c.2433G= (p.Lys811=) c.2334G= (p.Lys778=) c.2079G= (p.Lys693=) c.1914G= (p.Lys638=)
14	g.58467790G>T	CA389875120	KIAA0586	c.2055G>T (p.Lys685Asn) n.2856G>T c.2310G>T (p.Lys770Asn) c.1059G>T (p.Lys353Asn) c.391G>T (n.391G>T) c.414G>T (p.Lys138Asn) c.1876G>T (n.1876G>T) c.2082G>T (p.Lys694Asn) c.2469G>T (p.Lys823Asn) c.2178G>T (p.Lys726Asn) n.1900G>T c.2265G>T (p.Lys755Asn) c.1890G>T (p.Lys630Asn) c.2433G>T (p.Lys811Asn) c.2334G>T (p.Lys778Asn) c.2079G>T (p.Lys693Asn) c.1914G>T (p.Lys638Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467791C>A	CA389875121	KIAA0586	c.2056C>A (p.Pro686Thr) n.2857C>A c.2311C>A (p.Pro771Thr) c.1060C>A (p.Pro354Thr) c.392C>A (n.392C>A) c.415C>A (p.Pro139Thr) c.1877C>A (n.1877C>A) c.2083C>A (p.Pro695Thr) c.2470C>A (p.Pro824Thr) c.2179C>A (p.Pro727Thr) n.1901C>A c.2266C>A (p.Pro756Thr) c.1891C>A (p.Pro631Thr) c.2434C>A (p.Pro812Thr) c.2335C>A (p.Pro779Thr) c.2080C>A (p.Pro694Thr) c.1915C>A (p.Pro639Thr)	gnomAD v4
14	g.58467791C=	CA2139919934	KIAA0586	c.2056C= (p.Pro686=) n.2857C= c.2311C= (p.Pro771=) c.1060C= (p.Pro354=) c.392C= (n.392C=) c.415C= (p.Pro139=) c.1877C= (n.1877C=) c.2083C= (p.Pro695=) c.2470C= (p.Pro824=) c.2179C= (p.Pro727=) n.1901C= c.2266C= (p.Pro756=) c.1891C= (p.Pro631=) c.2434C= (p.Pro812=) c.2335C= (p.Pro779=) c.2080C= (p.Pro694=) c.1915C= (p.Pro639=)
14	g.58467791C>G	CA389875123	KIAA0586	c.2056C>G (p.Pro686Ala) n.2857C>G c.2311C>G (p.Pro771Ala) c.1060C>G (p.Pro354Ala) c.392C>G (n.392C>G) c.415C>G (p.Pro139Ala) c.1877C>G (n.1877C>G) c.2083C>G (p.Pro695Ala) c.2470C>G (p.Pro824Ala) c.2179C>G (p.Pro727Ala) n.1901C>G c.2266C>G (p.Pro756Ala) c.1891C>G (p.Pro631Ala) c.2434C>G (p.Pro812Ala) c.2335C>G (p.Pro779Ala) c.2080C>G (p.Pro694Ala) c.1915C>G (p.Pro639Ala)
14	g.58467791C>T	CA7205841	KIAA0586	c.2056C>T (p.Pro686Ser) n.2857C>T c.2311C>T (p.Pro771Ser) c.1060C>T (p.Pro354Ser) c.392C>T (n.392C>T) c.415C>T (p.Pro139Ser) c.1877C>T (n.1877C>T) c.2083C>T (p.Pro695Ser) c.2470C>T (p.Pro824Ser) c.2179C>T (p.Pro727Ser) n.1901C>T c.2266C>T (p.Pro756Ser) c.1891C>T (p.Pro631Ser) c.2434C>T (p.Pro812Ser) c.2335C>T (p.Pro779Ser) c.2080C>T (p.Pro694Ser) c.1915C>T (p.Pro639Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.58467792dup	CA2575540043	KIAA0586	c.2057dup (p.His687ThrfsTer24) n.2858dup c.2312dup (p.His772ThrfsTer24) c.1061dup (p.His355ThrfsTer24) c.393dup (n.393dup) c.416dup (p.His140ThrfsTer24) c.1878dup (n.1878dup) c.2084dup (p.His696ThrfsTer24) c.2471dup (p.His825ThrfsTer24) c.2180dup (p.His728ThrfsTer24) n.1902dup c.2267dup (p.His757ThrfsTer24) c.1892dup (p.His632ThrfsTer24) c.2435dup (p.His813ThrfsTer24) c.2336dup (p.His780ThrfsTer24) c.2081dup (p.His695ThrfsTer24) c.1916dup (p.His640ThrfsTer24)
14	g.58467792C>A	CA389875127	KIAA0586	c.2057C>A (p.Pro686Gln) n.2858C>A c.2312C>A (p.Pro771Gln) c.1061C>A (p.Pro354Gln) c.393C>A (n.393C>A) c.416C>A (p.Pro139Gln) c.1878C>A (n.1878C>A) c.2084C>A (p.Pro695Gln) c.2471C>A (p.Pro824Gln) c.2180C>A (p.Pro727Gln) n.1902C>A c.2267C>A (p.Pro756Gln) c.1892C>A (p.Pro631Gln) c.2435C>A (p.Pro812Gln) c.2336C>A (p.Pro779Gln) c.2081C>A (p.Pro694Gln) c.1916C>A (p.Pro639Gln)
14	g.58467792C>G	CA389875130	KIAA0586	c.2057C>G (p.Pro686Arg) n.2858C>G c.2312C>G (p.Pro771Arg) c.1061C>G (p.Pro354Arg) c.393C>G (n.393C>G) c.416C>G (p.Pro139Arg) c.1878C>G (n.1878C>G) c.2084C>G (p.Pro695Arg) c.2471C>G (p.Pro824Arg) c.2180C>G (p.Pro727Arg) n.1902C>G c.2267C>G (p.Pro756Arg) c.1892C>G (p.Pro631Arg) c.2435C>G (p.Pro812Arg) c.2336C>G (p.Pro779Arg) c.2081C>G (p.Pro694Arg) c.1916C>G (p.Pro639Arg)
14	g.58467792C>T	CA389875126	KIAA0586	c.2057C>T (p.Pro686Leu) n.2858C>T c.2312C>T (p.Pro771Leu) c.1061C>T (p.Pro354Leu) c.393C>T (n.393C>T) c.416C>T (p.Pro139Leu) c.1878C>T (n.1878C>T) c.2084C>T (p.Pro695Leu) c.2471C>T (p.Pro824Leu) c.2180C>T (p.Pro727Leu) n.1902C>T c.2267C>T (p.Pro756Leu) c.1892C>T (p.Pro631Leu) c.2435C>T (p.Pro812Leu) c.2336C>T (p.Pro779Leu) c.2081C>T (p.Pro694Leu) c.1916C>T (p.Pro639Leu)
14	g.58467793_58467796dup	CA2625061375	KIAA0586	c.2058_2061dup (p.Pro688ThrfsTer24) n.2859_2862dup c.2313_2316dup (p.Pro773ThrfsTer24) c.1062_1065dup (p.Pro356ThrfsTer24) c.394_397dup (n.394_397dup) c.417_420dup (p.Pro141ThrfsTer24) c.1879_1882dup (n.1879_1882dup) c.2085_2088dup (p.Pro697ThrfsTer24) c.2472_2475dup (p.Pro826ThrfsTer24) c.2181_2184dup (p.Pro729ThrfsTer24) n.1903_1906dup c.2268_2271dup (p.Pro758ThrfsTer24) c.1893_1896dup (p.Pro633ThrfsTer24) c.2436_2439dup (p.Pro814ThrfsTer24) c.2337_2340dup (p.Pro781ThrfsTer24) c.2082_2085dup (p.Pro696ThrfsTer24) c.1917_1920dup (p.Pro641ThrfsTer24)	gnomAD v4
14	g.58467793A=	CA2139919937	KIAA0586	c.2058A= (p.Pro686=) n.2859A= c.2313A= (p.Pro771=) c.1062A= (p.Pro354=) c.394A= (n.394A=) c.417A= (p.Pro139=) c.1879A= (n.1879A=) c.2085A= (p.Pro695=) c.2472A= (p.Pro824=) c.2181A= (p.Pro727=) n.1903A= c.2268A= (p.Pro756=) c.1893A= (p.Pro631=) c.2436A= (p.Pro812=) c.2337A= (p.Pro779=) c.2082A= (p.Pro694=) c.1917A= (p.Pro639=)
14	g.58467793A>C	CA486542360	KIAA0586	c.2058A>C (p.Pro686=) n.2859A>C c.2313A>C (p.Pro771=) c.1062A>C (p.Pro354=) c.394A>C (n.394A>C) c.417A>C (p.Pro139=) c.1879A>C (n.1879A>C) c.2085A>C (p.Pro695=) c.2472A>C (p.Pro824=) c.2181A>C (p.Pro727=) n.1903A>C c.2268A>C (p.Pro756=) c.1893A>C (p.Pro631=) c.2436A>C (p.Pro812=) c.2337A>C (p.Pro779=) c.2082A>C (p.Pro694=) c.1917A>C (p.Pro639=)
14	g.58467793A>G	CA7205842	KIAA0586	c.2058A>G (p.Pro686=) n.2859A>G c.2313A>G (p.Pro771=) c.1062A>G (p.Pro354=) c.394A>G (n.394A>G) c.417A>G (p.Pro139=) c.1879A>G (n.1879A>G) c.2085A>G (p.Pro695=) c.2472A>G (p.Pro824=) c.2181A>G (p.Pro727=) n.1903A>G c.2268A>G (p.Pro756=) c.1893A>G (p.Pro631=) c.2436A>G (p.Pro812=) c.2337A>G (p.Pro779=) c.2082A>G (p.Pro694=) c.1917A>G (p.Pro639=)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.58467793A>T	CA486542361	KIAA0586	c.2058A>T (p.Pro686=) n.2859A>T c.2313A>T (p.Pro771=) c.1062A>T (p.Pro354=) c.394A>T (n.394A>T) c.417A>T (p.Pro139=) c.1879A>T (n.1879A>T) c.2085A>T (p.Pro695=) c.2472A>T (p.Pro824=) c.2181A>T (p.Pro727=) n.1903A>T c.2268A>T (p.Pro756=) c.1893A>T (p.Pro631=) c.2436A>T (p.Pro812=) c.2337A>T (p.Pro779=) c.2082A>T (p.Pro694=) c.1917A>T (p.Pro639=)	gnomAD v4
14	g.58467794C>A	CA389875133	KIAA0586	c.2059C>A (p.His687Asn) n.2860C>A c.2314C>A (p.His772Asn) c.1063C>A (p.His355Asn) c.395C>A (n.395C>A) c.418C>A (p.His140Asn) c.1880C>A (n.1880C>A) c.2086C>A (p.His696Asn) c.2473C>A (p.His825Asn) c.2182C>A (p.His728Asn) n.1904C>A c.2269C>A (p.His757Asn) c.1894C>A (p.His632Asn) c.2437C>A (p.His813Asn) c.2338C>A (p.His780Asn) c.2083C>A (p.His695Asn) c.1918C>A (p.His640Asn)
14	g.58467794C=	CA2139919941	KIAA0586	c.2059C= (p.His687=) n.2860C= c.2314C= (p.His772=) c.1063C= (p.His355=) c.395C= (n.395C=) c.418C= (p.His140=) c.1880C= (n.1880C=) c.2086C= (p.His696=) c.2473C= (p.His825=) c.2182C= (p.His728=) n.1904C= c.2269C= (p.His757=) c.1894C= (p.His632=) c.2437C= (p.His813=) c.2338C= (p.His780=) c.2083C= (p.His695=) c.1918C= (p.His640=)
14	g.58467794C>G	CA389875137	KIAA0586	c.2059C>G (p.His687Asp) n.2860C>G c.2314C>G (p.His772Asp) c.1063C>G (p.His355Asp) c.395C>G (n.395C>G) c.418C>G (p.His140Asp) c.1880C>G (n.1880C>G) c.2086C>G (p.His696Asp) c.2473C>G (p.His825Asp) c.2182C>G (p.His728Asp) n.1904C>G c.2269C>G (p.His757Asp) c.1894C>G (p.His632Asp) c.2437C>G (p.His813Asp) c.2338C>G (p.His780Asp) c.2083C>G (p.His695Asp) c.1918C>G (p.His640Asp)
14	g.58467794C>T	CA7205843	KIAA0586	c.2059C>T (p.His687Tyr) n.2860C>T c.2314C>T (p.His772Tyr) c.1063C>T (p.His355Tyr) c.395C>T (n.395C>T) c.418C>T (p.His140Tyr) c.1880C>T (n.1880C>T) c.2086C>T (p.His696Tyr) c.2473C>T (p.His825Tyr) c.2182C>T (p.His728Tyr) n.1904C>T c.2269C>T (p.His757Tyr) c.1894C>T (p.His632Tyr) c.2437C>T (p.His813Tyr) c.2338C>T (p.His780Tyr) c.2083C>T (p.His695Tyr) c.1918C>T (p.His640Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467795A>C	CA389875140	KIAA0586	c.2060A>C (p.His687Pro) n.2861A>C c.2315A>C (p.His772Pro) c.1064A>C (p.His355Pro) c.396A>C (n.396A>C) c.419A>C (p.His140Pro) c.1881A>C (n.1881A>C) c.2087A>C (p.His696Pro) c.2474A>C (p.His825Pro) c.2183A>C (p.His728Pro) n.1905A>C c.2270A>C (p.His757Pro) c.1895A>C (p.His632Pro) c.2438A>C (p.His813Pro) c.2339A>C (p.His780Pro) c.2084A>C (p.His695Pro) c.1919A>C (p.His640Pro)
14	g.58467795A>G	CA389875141	KIAA0586	c.2060A>G (p.His687Arg) n.2861A>G c.2315A>G (p.His772Arg) c.1064A>G (p.His355Arg) c.396A>G (n.396A>G) c.419A>G (p.His140Arg) c.1881A>G (n.1881A>G) c.2087A>G (p.His696Arg) c.2474A>G (p.His825Arg) c.2183A>G (p.His728Arg) n.1905A>G c.2270A>G (p.His757Arg) c.1895A>G (p.His632Arg) c.2438A>G (p.His813Arg) c.2339A>G (p.His780Arg) c.2084A>G (p.His695Arg) c.1919A>G (p.His640Arg)	gnomAD v4
14	g.58467795A>T	CA389875143	KIAA0586	c.2060A>T (p.His687Leu) n.2861A>T c.2315A>T (p.His772Leu) c.1064A>T (p.His355Leu) c.396A>T (n.396A>T) c.419A>T (p.His140Leu) c.1881A>T (n.1881A>T) c.2087A>T (p.His696Leu) c.2474A>T (p.His825Leu) c.2183A>T (p.His728Leu) n.1905A>T c.2270A>T (p.His757Leu) c.1895A>T (p.His632Leu) c.2438A>T (p.His813Leu) c.2339A>T (p.His780Leu) c.2084A>T (p.His695Leu) c.1919A>T (p.His640Leu)	gnomAD v4
14	g.58467796C>A	CA389875144	KIAA0586	c.2061C>A (p.His687Gln) n.2862C>A c.2316C>A (p.His772Gln) c.1065C>A (p.His355Gln) c.397C>A (n.397C>A) c.420C>A (p.His140Gln) c.1882C>A (n.1882C>A) c.2088C>A (p.His696Gln) c.2475C>A (p.His825Gln) c.2184C>A (p.His728Gln) n.1906C>A c.2271C>A (p.His757Gln) c.1896C>A (p.His632Gln) c.2439C>A (p.His813Gln) c.2340C>A (p.His780Gln) c.2085C>A (p.His695Gln) c.1920C>A (p.His640Gln)
14	g.58467796C>G	CA389875145	KIAA0586	c.2061C>G (p.His687Gln) n.2862C>G c.2316C>G (p.His772Gln) c.1065C>G (p.His355Gln) c.397C>G (n.397C>G) c.420C>G (p.His140Gln) c.1882C>G (n.1882C>G) c.2088C>G (p.His696Gln) c.2475C>G (p.His825Gln) c.2184C>G (p.His728Gln) n.1906C>G c.2271C>G (p.His757Gln) c.1896C>G (p.His632Gln) c.2439C>G (p.His813Gln) c.2340C>G (p.His780Gln) c.2085C>G (p.His695Gln) c.1920C>G (p.His640Gln)
14	g.58467796C>T	CA486542363	KIAA0586	c.2061C>T (p.His687=) n.2862C>T c.2316C>T (p.His772=) c.1065C>T (p.His355=) c.397C>T (n.397C>T) c.420C>T (p.His140=) c.1882C>T (n.1882C>T) c.2088C>T (p.His696=) c.2475C>T (p.His825=) c.2184C>T (p.His728=) n.1906C>T c.2271C>T (p.His757=) c.1896C>T (p.His632=) c.2439C>T (p.His813=) c.2340C>T (p.His780=) c.2085C>T (p.His695=) c.1920C>T (p.His640=)
14	g.58467797C>A	CA389875146	KIAA0586	c.2062C>A (p.Pro688Thr) n.2863C>A c.2317C>A (p.Pro773Thr) c.1066C>A (p.Pro356Thr) c.398C>A (n.398C>A) c.421C>A (p.Pro141Thr) c.1883C>A (n.1883C>A) c.2089C>A (p.Pro697Thr) c.2476C>A (p.Pro826Thr) c.2185C>A (p.Pro729Thr) n.1907C>A c.2272C>A (p.Pro758Thr) c.1897C>A (p.Pro633Thr) c.2440C>A (p.Pro814Thr) c.2341C>A (p.Pro781Thr) c.2086C>A (p.Pro696Thr) c.1921C>A (p.Pro641Thr)
14	g.58467797C=	CA2139919944	KIAA0586	c.2062C= (p.Pro688=) n.2863C= c.2317C= (p.Pro773=) c.1066C= (p.Pro356=) c.398C= (n.398C=) c.421C= (p.Pro141=) c.1883C= (n.1883C=) c.2089C= (p.Pro697=) c.2476C= (p.Pro826=) c.2185C= (p.Pro729=) n.1907C= c.2272C= (p.Pro758=) c.1897C= (p.Pro633=) c.2440C= (p.Pro814=) c.2341C= (p.Pro781=) c.2086C= (p.Pro696=) c.1921C= (p.Pro641=)
14	g.58467797C>G	CA389875147	KIAA0586	c.2062C>G (p.Pro688Ala) n.2863C>G c.2317C>G (p.Pro773Ala) c.1066C>G (p.Pro356Ala) c.398C>G (n.398C>G) c.421C>G (p.Pro141Ala) c.1883C>G (n.1883C>G) c.2089C>G (p.Pro697Ala) c.2476C>G (p.Pro826Ala) c.2185C>G (p.Pro729Ala) n.1907C>G c.2272C>G (p.Pro758Ala) c.1897C>G (p.Pro633Ala) c.2440C>G (p.Pro814Ala) c.2341C>G (p.Pro781Ala) c.2086C>G (p.Pro696Ala) c.1921C>G (p.Pro641Ala)	dbSNP gnomAD v3 gnomAD v4
14	g.58467797C>T	CA389875149	KIAA0586	c.2062C>T (p.Pro688Ser) n.2863C>T c.2317C>T (p.Pro773Ser) c.1066C>T (p.Pro356Ser) c.398C>T (n.398C>T) c.421C>T (p.Pro141Ser) c.1883C>T (n.1883C>T) c.2089C>T (p.Pro697Ser) c.2476C>T (p.Pro826Ser) c.2185C>T (p.Pro729Ser) n.1907C>T c.2272C>T (p.Pro758Ser) c.1897C>T (p.Pro633Ser) c.2440C>T (p.Pro814Ser) c.2341C>T (p.Pro781Ser) c.2086C>T (p.Pro696Ser) c.1921C>T (p.Pro641Ser)
14	g.58467798C>A	CA389875153	KIAA0586	c.2063C>A (p.Pro688His) n.2864C>A c.2318C>A (p.Pro773His) c.1067C>A (p.Pro356His) c.399C>A (n.399C>A) c.422C>A (p.Pro141His) c.1884C>A (n.1884C>A) c.2090C>A (p.Pro697His) c.2477C>A (p.Pro826His) c.2186C>A (p.Pro729His) n.1908C>A c.2273C>A (p.Pro758His) c.1898C>A (p.Pro633His) c.2441C>A (p.Pro814His) c.2342C>A (p.Pro781His) c.2087C>A (p.Pro696His) c.1922C>A (p.Pro641His)
14	g.58467798C=	CA2139919948	KIAA0586	c.2063C= (p.Pro688=) n.2864C= c.2318C= (p.Pro773=) c.1067C= (p.Pro356=) c.399C= (n.399C=) c.422C= (p.Pro141=) c.1884C= (n.1884C=) c.2090C= (p.Pro697=) c.2477C= (p.Pro826=) c.2186C= (p.Pro729=) n.1908C= c.2273C= (p.Pro758=) c.1898C= (p.Pro633=) c.2441C= (p.Pro814=) c.2342C= (p.Pro781=) c.2087C= (p.Pro696=) c.1922C= (p.Pro641=)
14	g.58467798C>G	CA389875150	KIAA0586	c.2063C>G (p.Pro688Arg) n.2864C>G c.2318C>G (p.Pro773Arg) c.1067C>G (p.Pro356Arg) c.399C>G (n.399C>G) c.422C>G (p.Pro141Arg) c.1884C>G (n.1884C>G) c.2090C>G (p.Pro697Arg) c.2477C>G (p.Pro826Arg) c.2186C>G (p.Pro729Arg) n.1908C>G c.2273C>G (p.Pro758Arg) c.1898C>G (p.Pro633Arg) c.2441C>G (p.Pro814Arg) c.2342C>G (p.Pro781Arg) c.2087C>G (p.Pro696Arg) c.1922C>G (p.Pro641Arg)
14	g.58467798C>T	CA389875151	KIAA0586	c.2063C>T (p.Pro688Leu) n.2864C>T c.2318C>T (p.Pro773Leu) c.1067C>T (p.Pro356Leu) c.399C>T (n.399C>T) c.422C>T (p.Pro141Leu) c.1884C>T (n.1884C>T) c.2090C>T (p.Pro697Leu) c.2477C>T (p.Pro826Leu) c.2186C>T (p.Pro729Leu) n.1908C>T c.2273C>T (p.Pro758Leu) c.1898C>T (p.Pro633Leu) c.2441C>T (p.Pro814Leu) c.2342C>T (p.Pro781Leu) c.2087C>T (p.Pro696Leu) c.1922C>T (p.Pro641Leu)	dbSNP gnomAD v3 gnomAD v4
14	g.58467799T>A	CA486542364	KIAA0586	c.2064T>A (p.Pro688=) n.2865T>A c.2319T>A (p.Pro773=) c.1068T>A (p.Pro356=) c.400T>A (n.400T>A) c.423T>A (p.Pro141=) c.1885T>A (n.1885T>A) c.2091T>A (p.Pro697=) c.2478T>A (p.Pro826=) c.2187T>A (p.Pro729=) n.1909T>A c.2274T>A (p.Pro758=) c.1899T>A (p.Pro633=) c.2442T>A (p.Pro814=) c.2343T>A (p.Pro781=) c.2088T>A (p.Pro696=) c.1923T>A (p.Pro641=)
14	g.58467799T>C	CA486542365	KIAA0586	c.2064T>C (p.Pro688=) n.2865T>C c.2319T>C (p.Pro773=) c.1068T>C (p.Pro356=) c.400T>C (n.400T>C) c.423T>C (p.Pro141=) c.1885T>C (n.1885T>C) c.2091T>C (p.Pro697=) c.2478T>C (p.Pro826=) c.2187T>C (p.Pro729=) n.1909T>C c.2274T>C (p.Pro758=) c.1899T>C (p.Pro633=) c.2442T>C (p.Pro814=) c.2343T>C (p.Pro781=) c.2088T>C (p.Pro696=) c.1923T>C (p.Pro641=)
14	g.58467799T>G	CA486542366	KIAA0586	c.2064T>G (p.Pro688=) n.2865T>G c.2319T>G (p.Pro773=) c.1068T>G (p.Pro356=) c.400T>G (n.400T>G) c.423T>G (p.Pro141=) c.1885T>G (n.1885T>G) c.2091T>G (p.Pro697=) c.2478T>G (p.Pro826=) c.2187T>G (p.Pro729=) n.1909T>G c.2274T>G (p.Pro758=) c.1899T>G (p.Pro633=) c.2442T>G (p.Pro814=) c.2343T>G (p.Pro781=) c.2088T>G (p.Pro696=) c.1923T>G (p.Pro641=)
14	g.58467800G>A	CA389875156	KIAA0586	c.2065G>A (p.Val689Ile) n.2866G>A c.2320G>A (p.Val774Ile) c.1069G>A (p.Val357Ile) c.401G>A (n.401G>A) c.424G>A (p.Val142Ile) c.1886G>A (n.1886G>A) c.2092G>A (p.Val698Ile) c.2479G>A (p.Val827Ile) c.2188G>A (p.Val730Ile) n.1910G>A c.2275G>A (p.Val759Ile) c.1900G>A (p.Val634Ile) c.2443G>A (p.Val815Ile) c.2344G>A (p.Val782Ile) c.2089G>A (p.Val697Ile) c.1924G>A (p.Val642Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467800G>C	CA389875157	KIAA0586	c.2065G>C (p.Val689Leu) n.2866G>C c.2320G>C (p.Val774Leu) c.1069G>C (p.Val357Leu) c.401G>C (n.401G>C) c.424G>C (p.Val142Leu) c.1886G>C (n.1886G>C) c.2092G>C (p.Val698Leu) c.2479G>C (p.Val827Leu) c.2188G>C (p.Val730Leu) n.1910G>C c.2275G>C (p.Val759Leu) c.1900G>C (p.Val634Leu) c.2443G>C (p.Val815Leu) c.2344G>C (p.Val782Leu) c.2089G>C (p.Val697Leu) c.1924G>C (p.Val642Leu)	ClinVar
14	g.58467800G=	CA2139919949	KIAA0586	c.2065G= (p.Val689=) n.2866G= c.2320G= (p.Val774=) c.1069G= (p.Val357=) c.401G= (n.401G=) c.424G= (p.Val142=) c.1886G= (n.1886G=) c.2092G= (p.Val698=) c.2479G= (p.Val827=) c.2188G= (p.Val730=) n.1910G= c.2275G= (p.Val759=) c.1900G= (p.Val634=) c.2443G= (p.Val815=) c.2344G= (p.Val782=) c.2089G= (p.Val697=) c.1924G= (p.Val642=)
14	g.58467800G>T	CA389875158	KIAA0586	c.2065G>T (p.Val689Leu) n.2866G>T c.2320G>T (p.Val774Leu) c.1069G>T (p.Val357Leu) c.401G>T (n.401G>T) c.424G>T (p.Val142Leu) c.1886G>T (n.1886G>T) c.2092G>T (p.Val698Leu) c.2479G>T (p.Val827Leu) c.2188G>T (p.Val730Leu) n.1910G>T c.2275G>T (p.Val759Leu) c.1900G>T (p.Val634Leu) c.2443G>T (p.Val815Leu) c.2344G>T (p.Val782Leu) c.2089G>T (p.Val697Leu) c.1924G>T (p.Val642Leu)
14	g.58467801T>A	CA389875160	KIAA0586	c.2066T>A (p.Val689Glu) n.2867T>A c.2321T>A (p.Val774Glu) c.1070T>A (p.Val357Glu) c.402T>A (n.402T>A) c.425T>A (p.Val142Glu) c.1887T>A (n.1887T>A) c.2093T>A (p.Val698Glu) c.2480T>A (p.Val827Glu) c.2189T>A (p.Val730Glu) n.1911T>A c.2276T>A (p.Val759Glu) c.1901T>A (p.Val634Glu) c.2444T>A (p.Val815Glu) c.2345T>A (p.Val782Glu) c.2090T>A (p.Val697Glu) c.1925T>A (p.Val642Glu)
14	g.58467801T>C	CA389875162	KIAA0586	c.2066T>C (p.Val689Ala) n.2867T>C c.2321T>C (p.Val774Ala) c.1070T>C (p.Val357Ala) c.402T>C (n.402T>C) c.425T>C (p.Val142Ala) c.1887T>C (n.1887T>C) c.2093T>C (p.Val698Ala) c.2480T>C (p.Val827Ala) c.2189T>C (p.Val730Ala) n.1911T>C c.2276T>C (p.Val759Ala) c.1901T>C (p.Val634Ala) c.2444T>C (p.Val815Ala) c.2345T>C (p.Val782Ala) c.2090T>C (p.Val697Ala) c.1925T>C (p.Val642Ala)
14	g.58467801T>G	CA389875164	KIAA0586	c.2066T>G (p.Val689Gly) n.2867T>G c.2321T>G (p.Val774Gly) c.1070T>G (p.Val357Gly) c.402T>G (n.402T>G) c.425T>G (p.Val142Gly) c.1887T>G (n.1887T>G) c.2093T>G (p.Val698Gly) c.2480T>G (p.Val827Gly) c.2189T>G (p.Val730Gly) n.1911T>G c.2276T>G (p.Val759Gly) c.1901T>G (p.Val634Gly) c.2444T>G (p.Val815Gly) c.2345T>G (p.Val782Gly) c.2090T>G (p.Val697Gly) c.1925T>G (p.Val642Gly)
14	g.58467802A>C	CA486542367	KIAA0586	c.2067A>C (p.Val689=) n.2868A>C c.2322A>C (p.Val774=) c.1071A>C (p.Val357=) c.403A>C (n.403A>C) c.426A>C (p.Val142=) c.1888A>C (n.1888A>C) c.2094A>C (p.Val698=) c.2481A>C (p.Val827=) c.2190A>C (p.Val730=) n.1912A>C c.2277A>C (p.Val759=) c.1902A>C (p.Val634=) c.2445A>C (p.Val815=) c.2346A>C (p.Val782=) c.2091A>C (p.Val697=) c.1926A>C (p.Val642=)
14	g.58467802A>G	CA486542368	KIAA0586	c.2067A>G (p.Val689=) n.2868A>G c.2322A>G (p.Val774=) c.1071A>G (p.Val357=) c.403A>G (n.403A>G) c.426A>G (p.Val142=) c.1888A>G (n.1888A>G) c.2094A>G (p.Val698=) c.2481A>G (p.Val827=) c.2190A>G (p.Val730=) n.1912A>G c.2277A>G (p.Val759=) c.1902A>G (p.Val634=) c.2445A>G (p.Val815=) c.2346A>G (p.Val782=) c.2091A>G (p.Val697=) c.1926A>G (p.Val642=)
14	g.58467802A>T	CA486542369	KIAA0586	c.2067A>T (p.Val689=) n.2868A>T c.2322A>T (p.Val774=) c.1071A>T (p.Val357=) c.403A>T (n.403A>T) c.426A>T (p.Val142=) c.1888A>T (n.1888A>T) c.2094A>T (p.Val698=) c.2481A>T (p.Val827=) c.2190A>T (p.Val730=) n.1912A>T c.2277A>T (p.Val759=) c.1902A>T (p.Val634=) c.2445A>T (p.Val815=) c.2346A>T (p.Val782=) c.2091A>T (p.Val697=) c.1926A>T (p.Val642=)
14	g.58467803A=	CA2139919952	KIAA0586	c.2068A= (p.Thr690=) n.2869A= c.2323A= (p.Thr775=) c.1072A= (p.Thr358=) c.404A= (n.404A=) c.427A= (p.Thr143=) c.1889A= (n.1889A=) c.2095A= (p.Thr699=) c.2482A= (p.Thr828=) c.2191A= (p.Thr731=) n.1913A= c.2278A= (p.Thr760=) c.1903A= (p.Thr635=) c.2446A= (p.Thr816=) c.2347A= (p.Thr783=) c.2092A= (p.Thr698=) c.1927A= (p.Thr643=)
14	g.58467803A>C	CA389875166	KIAA0586	c.2068A>C (p.Thr690Pro) n.2869A>C c.2323A>C (p.Thr775Pro) c.1072A>C (p.Thr358Pro) c.404A>C (n.404A>C) c.427A>C (p.Thr143Pro) c.1889A>C (n.1889A>C) c.2095A>C (p.Thr699Pro) c.2482A>C (p.Thr828Pro) c.2191A>C (p.Thr731Pro) n.1913A>C c.2278A>C (p.Thr760Pro) c.1903A>C (p.Thr635Pro) c.2446A>C (p.Thr816Pro) c.2347A>C (p.Thr783Pro) c.2092A>C (p.Thr698Pro) c.1927A>C (p.Thr643Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467803A>G	CA389875167	KIAA0586	c.2068A>G (p.Thr690Ala) n.2869A>G c.2323A>G (p.Thr775Ala) c.1072A>G (p.Thr358Ala) c.404A>G (n.404A>G) c.427A>G (p.Thr143Ala) c.1889A>G (n.1889A>G) c.2095A>G (p.Thr699Ala) c.2482A>G (p.Thr828Ala) c.2191A>G (p.Thr731Ala) n.1913A>G c.2278A>G (p.Thr760Ala) c.1903A>G (p.Thr635Ala) c.2446A>G (p.Thr816Ala) c.2347A>G (p.Thr783Ala) c.2092A>G (p.Thr698Ala) c.1927A>G (p.Thr643Ala)
14	g.58467803A>T	CA389875169	KIAA0586	c.2068A>T (p.Thr690Ser) n.2869A>T c.2323A>T (p.Thr775Ser) c.1072A>T (p.Thr358Ser) c.404A>T (n.404A>T) c.427A>T (p.Thr143Ser) c.1889A>T (n.1889A>T) c.2095A>T (p.Thr699Ser) c.2482A>T (p.Thr828Ser) c.2191A>T (p.Thr731Ser) n.1913A>T c.2278A>T (p.Thr760Ser) c.1903A>T (p.Thr635Ser) c.2446A>T (p.Thr816Ser) c.2347A>T (p.Thr783Ser) c.2092A>T (p.Thr698Ser) c.1927A>T (p.Thr643Ser)
14	g.58467804C>A	CA389875171	KIAA0586	c.2069C>A (p.Thr690Asn) n.2870C>A c.2324C>A (p.Thr775Asn) c.1073C>A (p.Thr358Asn) c.405C>A (n.405C>A) c.428C>A (p.Thr143Asn) c.1890C>A (n.1890C>A) c.2096C>A (p.Thr699Asn) c.2483C>A (p.Thr828Asn) c.2192C>A (p.Thr731Asn) n.1914C>A c.2279C>A (p.Thr760Asn) c.1904C>A (p.Thr635Asn) c.2447C>A (p.Thr816Asn) c.2348C>A (p.Thr783Asn) c.2093C>A (p.Thr698Asn) c.1928C>A (p.Thr643Asn)	ClinVar dbSNP
14	g.58467804C>G	CA389875173	KIAA0586	c.2069C>G (p.Thr690Ser) n.2870C>G c.2324C>G (p.Thr775Ser) c.1073C>G (p.Thr358Ser) c.405C>G (n.405C>G) c.428C>G (p.Thr143Ser) c.1890C>G (n.1890C>G) c.2096C>G (p.Thr699Ser) c.2483C>G (p.Thr828Ser) c.2192C>G (p.Thr731Ser) n.1914C>G c.2279C>G (p.Thr760Ser) c.1904C>G (p.Thr635Ser) c.2447C>G (p.Thr816Ser) c.2348C>G (p.Thr783Ser) c.2093C>G (p.Thr698Ser) c.1928C>G (p.Thr643Ser)
14	g.58467804C>T	CA389875175	KIAA0586	c.2069C>T (p.Thr690Ile) n.2870C>T c.2324C>T (p.Thr775Ile) c.1073C>T (p.Thr358Ile) c.405C>T (n.405C>T) c.428C>T (p.Thr143Ile) c.1890C>T (n.1890C>T) c.2096C>T (p.Thr699Ile) c.2483C>T (p.Thr828Ile) c.2192C>T (p.Thr731Ile) n.1914C>T c.2279C>T (p.Thr760Ile) c.1904C>T (p.Thr635Ile) c.2447C>T (p.Thr816Ile) c.2348C>T (p.Thr783Ile) c.2093C>T (p.Thr698Ile) c.1928C>T (p.Thr643Ile)
14	g.58467805T>A	CA486542370	KIAA0586	c.2070T>A (p.Thr690=) n.2871T>A c.2325T>A (p.Thr775=) c.1074T>A (p.Thr358=) c.406T>A (n.406T>A) c.429T>A (p.Thr143=) c.1891T>A (n.1891T>A) c.2097T>A (p.Thr699=) c.2484T>A (p.Thr828=) c.2193T>A (p.Thr731=) n.1915T>A c.2280T>A (p.Thr760=) c.1905T>A (p.Thr635=) c.2448T>A (p.Thr816=) c.2349T>A (p.Thr783=) c.2094T>A (p.Thr698=) c.1929T>A (p.Thr643=)
14	g.58467805T>C	CA486542371	KIAA0586	c.2070T>C (p.Thr690=) n.2871T>C c.2325T>C (p.Thr775=) c.1074T>C (p.Thr358=) c.406T>C (n.406T>C) c.429T>C (p.Thr143=) c.1891T>C (n.1891T>C) c.2097T>C (p.Thr699=) c.2484T>C (p.Thr828=) c.2193T>C (p.Thr731=) n.1915T>C c.2280T>C (p.Thr760=) c.1905T>C (p.Thr635=) c.2448T>C (p.Thr816=) c.2349T>C (p.Thr783=) c.2094T>C (p.Thr698=) c.1929T>C (p.Thr643=)
14	g.58467805T>G	CA486542372	KIAA0586	c.2070T>G (p.Thr690=) n.2871T>G c.2325T>G (p.Thr775=) c.1074T>G (p.Thr358=) c.406T>G (n.406T>G) c.429T>G (p.Thr143=) c.1891T>G (n.1891T>G) c.2097T>G (p.Thr699=) c.2484T>G (p.Thr828=) c.2193T>G (p.Thr731=) n.1915T>G c.2280T>G (p.Thr760=) c.1905T>G (p.Thr635=) c.2448T>G (p.Thr816=) c.2349T>G (p.Thr783=) c.2094T>G (p.Thr698=) c.1929T>G (p.Thr643=)	gnomAD v4
14	g.58467806G>A	CA389875178	KIAA0586	c.2071G>A (p.Val691Met) n.2872G>A c.2326G>A (p.Val776Met) c.1075G>A (p.Val359Met) c.407G>A (n.407G>A) c.430G>A (p.Val144Met) c.1892G>A (n.1892G>A) c.2098G>A (p.Val700Met) c.2485G>A (p.Val829Met) c.2194G>A (p.Val732Met) n.1916G>A c.2281G>A (p.Val761Met) c.1906G>A (p.Val636Met) c.2449G>A (p.Val817Met) c.2350G>A (p.Val784Met) c.2095G>A (p.Val699Met) c.1930G>A (p.Val644Met)	dbSNP gnomAD v4
14	g.58467806G>C	CA389875181	KIAA0586	c.2071G>C (p.Val691Leu) n.2872G>C c.2326G>C (p.Val776Leu) c.1075G>C (p.Val359Leu) c.407G>C (n.407G>C) c.430G>C (p.Val144Leu) c.1892G>C (n.1892G>C) c.2098G>C (p.Val700Leu) c.2485G>C (p.Val829Leu) c.2194G>C (p.Val732Leu) n.1916G>C c.2281G>C (p.Val761Leu) c.1906G>C (p.Val636Leu) c.2449G>C (p.Val817Leu) c.2350G>C (p.Val784Leu) c.2095G>C (p.Val699Leu) c.1930G>C (p.Val644Leu)
14	g.58467806G=	CA2139919957	KIAA0586	c.2071G= (p.Val691=) n.2872G= c.2326G= (p.Val776=) c.1075G= (p.Val359=) c.407G= (n.407G=) c.430G= (p.Val144=) c.1892G= (n.1892G=) c.2098G= (p.Val700=) c.2485G= (p.Val829=) c.2194G= (p.Val732=) n.1916G= c.2281G= (p.Val761=) c.1906G= (p.Val636=) c.2449G= (p.Val817=) c.2350G= (p.Val784=) c.2095G= (p.Val699=) c.1930G= (p.Val644=)
14	g.58467806G>T	CA389875177	KIAA0586	c.2071G>T (p.Val691Leu) n.2872G>T c.2326G>T (p.Val776Leu) c.1075G>T (p.Val359Leu) c.407G>T (n.407G>T) c.430G>T (p.Val144Leu) c.1892G>T (n.1892G>T) c.2098G>T (p.Val700Leu) c.2485G>T (p.Val829Leu) c.2194G>T (p.Val732Leu) n.1916G>T c.2281G>T (p.Val761Leu) c.1906G>T (p.Val636Leu) c.2449G>T (p.Val817Leu) c.2350G>T (p.Val784Leu) c.2095G>T (p.Val699Leu) c.1930G>T (p.Val644Leu)
14	g.58467807T>A	CA389875183	KIAA0586	c.2072T>A (p.Val691Glu) n.2873T>A c.2327T>A (p.Val776Glu) c.1076T>A (p.Val359Glu) c.408T>A (n.408T>A) c.431T>A (p.Val144Glu) c.1893T>A (n.1893T>A) c.2099T>A (p.Val700Glu) c.2486T>A (p.Val829Glu) c.2195T>A (p.Val732Glu) n.1917T>A c.2282T>A (p.Val761Glu) c.1907T>A (p.Val636Glu) c.2450T>A (p.Val817Glu) c.2351T>A (p.Val784Glu) c.2096T>A (p.Val699Glu) c.1931T>A (p.Val644Glu)
14	g.58467807T>C	CA389875184	KIAA0586	c.2072T>C (p.Val691Ala) n.2873T>C c.2327T>C (p.Val776Ala) c.1076T>C (p.Val359Ala) c.408T>C (n.408T>C) c.431T>C (p.Val144Ala) c.1893T>C (n.1893T>C) c.2099T>C (p.Val700Ala) c.2486T>C (p.Val829Ala) c.2195T>C (p.Val732Ala) n.1917T>C c.2282T>C (p.Val761Ala) c.1907T>C (p.Val636Ala) c.2450T>C (p.Val817Ala) c.2351T>C (p.Val784Ala) c.2096T>C (p.Val699Ala) c.1931T>C (p.Val644Ala)
14	g.58467807T>G	CA389875185	KIAA0586	c.2072T>G (p.Val691Gly) n.2873T>G c.2327T>G (p.Val776Gly) c.1076T>G (p.Val359Gly) c.408T>G (n.408T>G) c.431T>G (p.Val144Gly) c.1893T>G (n.1893T>G) c.2099T>G (p.Val700Gly) c.2486T>G (p.Val829Gly) c.2195T>G (p.Val732Gly) n.1917T>G c.2282T>G (p.Val761Gly) c.1907T>G (p.Val636Gly) c.2450T>G (p.Val817Gly) c.2351T>G (p.Val784Gly) c.2096T>G (p.Val699Gly) c.1931T>G (p.Val644Gly)
14	g.58467808G>A	CA486542374	KIAA0586	c.2073G>A (p.Val691=) n.2874G>A c.2328G>A (p.Val776=) c.1077G>A (p.Val359=) c.409G>A (n.409G>A) c.432G>A (p.Val144=) c.1894G>A (n.1894G>A) c.2100G>A (p.Val700=) c.2487G>A (p.Val829=) c.2196G>A (p.Val732=) n.1918G>A c.2283G>A (p.Val761=) c.1908G>A (p.Val636=) c.2451G>A (p.Val817=) c.2352G>A (p.Val784=) c.2097G>A (p.Val699=) c.1932G>A (p.Val644=)
14	g.58467808G>C	CA486542375	KIAA0586	c.2073G>C (p.Val691=) n.2874G>C c.2328G>C (p.Val776=) c.1077G>C (p.Val359=) c.409G>C (n.409G>C) c.432G>C (p.Val144=) c.1894G>C (n.1894G>C) c.2100G>C (p.Val700=) c.2487G>C (p.Val829=) c.2196G>C (p.Val732=) n.1918G>C c.2283G>C (p.Val761=) c.1908G>C (p.Val636=) c.2451G>C (p.Val817=) c.2352G>C (p.Val784=) c.2097G>C (p.Val699=) c.1932G>C (p.Val644=)
14	g.58467808G>T	CA486542376	KIAA0586	c.2073G>T (p.Val691=) n.2874G>T c.2328G>T (p.Val776=) c.1077G>T (p.Val359=) c.409G>T (n.409G>T) c.432G>T (p.Val144=) c.1894G>T (n.1894G>T) c.2100G>T (p.Val700=) c.2487G>T (p.Val829=) c.2196G>T (p.Val732=) n.1918G>T c.2283G>T (p.Val761=) c.1908G>T (p.Val636=) c.2451G>T (p.Val817=) c.2352G>T (p.Val784=) c.2097G>T (p.Val699=) c.1932G>T (p.Val644=)
14	g.58467809A=	CA2139919960	KIAA0586	c.2074A= (p.Thr692=) n.2875A= c.2329A= (p.Thr777=) c.1078A= (p.Thr360=) c.410A= (n.410A=) c.433A= (p.Thr145=) c.1895A= (n.1895A=) c.2101A= (p.Thr701=) c.2488A= (p.Thr830=) c.2197A= (p.Thr733=) n.1919A= c.2284A= (p.Thr762=) c.1909A= (p.Thr637=) c.2452A= (p.Thr818=) c.2353A= (p.Thr785=) c.2098A= (p.Thr700=) c.1933A= (p.Thr645=)
14	g.58467809A>C	CA389875187	KIAA0586	c.2074A>C (p.Thr692Pro) n.2875A>C c.2329A>C (p.Thr777Pro) c.1078A>C (p.Thr360Pro) c.410A>C (n.410A>C) c.433A>C (p.Thr145Pro) c.1895A>C (n.1895A>C) c.2101A>C (p.Thr701Pro) c.2488A>C (p.Thr830Pro) c.2197A>C (p.Thr733Pro) n.1919A>C c.2284A>C (p.Thr762Pro) c.1909A>C (p.Thr637Pro) c.2452A>C (p.Thr818Pro) c.2353A>C (p.Thr785Pro) c.2098A>C (p.Thr700Pro) c.1933A>C (p.Thr645Pro)
14	g.58467809A>G	CA7205844	KIAA0586	c.2074A>G (p.Thr692Ala) n.2875A>G c.2329A>G (p.Thr777Ala) c.1078A>G (p.Thr360Ala) c.410A>G (n.410A>G) c.433A>G (p.Thr145Ala) c.1895A>G (n.1895A>G) c.2101A>G (p.Thr701Ala) c.2488A>G (p.Thr830Ala) c.2197A>G (p.Thr733Ala) n.1919A>G c.2284A>G (p.Thr762Ala) c.1909A>G (p.Thr637Ala) c.2452A>G (p.Thr818Ala) c.2353A>G (p.Thr785Ala) c.2098A>G (p.Thr700Ala) c.1933A>G (p.Thr645Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.58467809A>T	CA389875189	KIAA0586	c.2074A>T (p.Thr692Ser) n.2875A>T c.2329A>T (p.Thr777Ser) c.1078A>T (p.Thr360Ser) c.410A>T (n.410A>T) c.433A>T (p.Thr145Ser) c.1895A>T (n.1895A>T) c.2101A>T (p.Thr701Ser) c.2488A>T (p.Thr830Ser) c.2197A>T (p.Thr733Ser) n.1919A>T c.2284A>T (p.Thr762Ser) c.1909A>T (p.Thr637Ser) c.2452A>T (p.Thr818Ser) c.2353A>T (p.Thr785Ser) c.2098A>T (p.Thr700Ser) c.1933A>T (p.Thr645Ser)	gnomAD v4
14	g.58467810C>A	CA389875195	KIAA0586	c.2075C>A (p.Thr692Asn) n.2876C>A c.2330C>A (p.Thr777Asn) c.1079C>A (p.Thr360Asn) c.411C>A (n.411C>A) c.434C>A (p.Thr145Asn) c.1896C>A (n.1896C>A) c.2102C>A (p.Thr701Asn) c.2489C>A (p.Thr830Asn) c.2198C>A (p.Thr733Asn) n.1920C>A c.2285C>A (p.Thr762Asn) c.1910C>A (p.Thr637Asn) c.2453C>A (p.Thr818Asn) c.2354C>A (p.Thr785Asn) c.2099C>A (p.Thr700Asn) c.1934C>A (p.Thr645Asn)
14	g.58467810C>G	CA389875191	KIAA0586	c.2075C>G (p.Thr692Ser) n.2876C>G c.2330C>G (p.Thr777Ser) c.1079C>G (p.Thr360Ser) c.411C>G (n.411C>G) c.434C>G (p.Thr145Ser) c.1896C>G (n.1896C>G) c.2102C>G (p.Thr701Ser) c.2489C>G (p.Thr830Ser) c.2198C>G (p.Thr733Ser) n.1920C>G c.2285C>G (p.Thr762Ser) c.1910C>G (p.Thr637Ser) c.2453C>G (p.Thr818Ser) c.2354C>G (p.Thr785Ser) c.2099C>G (p.Thr700Ser) c.1934C>G (p.Thr645Ser)
14	g.58467810C>T	CA389875193	KIAA0586	c.2075C>T (p.Thr692Ile) n.2876C>T c.2330C>T (p.Thr777Ile) c.1079C>T (p.Thr360Ile) c.411C>T (n.411C>T) c.434C>T (p.Thr145Ile) c.1896C>T (n.1896C>T) c.2102C>T (p.Thr701Ile) c.2489C>T (p.Thr830Ile) c.2198C>T (p.Thr733Ile) n.1920C>T c.2285C>T (p.Thr762Ile) c.1910C>T (p.Thr637Ile) c.2453C>T (p.Thr818Ile) c.2354C>T (p.Thr785Ile) c.2099C>T (p.Thr700Ile) c.1934C>T (p.Thr645Ile)
14	g.58467811T>A	CA486542378	KIAA0586	c.2076T>A (p.Thr692=) n.2877T>A c.2331T>A (p.Thr777=) c.1080T>A (p.Thr360=) c.412T>A (n.412T>A) c.435T>A (p.Thr145=) c.1897T>A (n.1897T>A) c.2103T>A (p.Thr701=) c.2490T>A (p.Thr830=) c.2199T>A (p.Thr733=) n.1921T>A c.2286T>A (p.Thr762=) c.1911T>A (p.Thr637=) c.2454T>A (p.Thr818=) c.2355T>A (p.Thr785=) c.2100T>A (p.Thr700=) c.1935T>A (p.Thr645=)
14	g.58467811T>C	CA486542379	KIAA0586	c.2076T>C (p.Thr692=) n.2877T>C c.2331T>C (p.Thr777=) c.1080T>C (p.Thr360=) c.412T>C (n.412T>C) c.435T>C (p.Thr145=) c.1897T>C (n.1897T>C) c.2103T>C (p.Thr701=) c.2490T>C (p.Thr830=) c.2199T>C (p.Thr733=) n.1921T>C c.2286T>C (p.Thr762=) c.1911T>C (p.Thr637=) c.2454T>C (p.Thr818=) c.2355T>C (p.Thr785=) c.2100T>C (p.Thr700=) c.1935T>C (p.Thr645=)
14	g.58467811T>G	CA486542380	KIAA0586	c.2076T>G (p.Thr692=) n.2877T>G c.2331T>G (p.Thr777=) c.1080T>G (p.Thr360=) c.412T>G (n.412T>G) c.435T>G (p.Thr145=) c.1897T>G (n.1897T>G) c.2103T>G (p.Thr701=) c.2490T>G (p.Thr830=) c.2199T>G (p.Thr733=) n.1921T>G c.2286T>G (p.Thr762=) c.1911T>G (p.Thr637=) c.2454T>G (p.Thr818=) c.2355T>G (p.Thr785=) c.2100T>G (p.Thr700=) c.1935T>G (p.Thr645=)
14	g.58467812A=	CA2139919965	KIAA0586	c.2077A= (p.Thr693=) n.2878A= c.2332A= (p.Thr778=) c.1081A= (p.Thr361=) c.413A= (n.413A=) c.436A= (p.Thr146=) c.1898A= (n.1898A=) c.2104A= (p.Thr702=) c.2491A= (p.Thr831=) c.2200A= (p.Thr734=) n.1922A= c.2287A= (p.Thr763=) c.1912A= (p.Thr638=) c.2455A= (p.Thr819=) c.2356A= (p.Thr786=) c.2101A= (p.Thr701=) c.1936A= (p.Thr646=)
14	g.58467812A>C	CA389875197	KIAA0586	c.2077A>C (p.Thr693Pro) n.2878A>C c.2332A>C (p.Thr778Pro) c.1081A>C (p.Thr361Pro) c.413A>C (n.413A>C) c.436A>C (p.Thr146Pro) c.1898A>C (n.1898A>C) c.2104A>C (p.Thr702Pro) c.2491A>C (p.Thr831Pro) c.2200A>C (p.Thr734Pro) n.1922A>C c.2287A>C (p.Thr763Pro) c.1912A>C (p.Thr638Pro) c.2455A>C (p.Thr819Pro) c.2356A>C (p.Thr786Pro) c.2101A>C (p.Thr701Pro) c.1936A>C (p.Thr646Pro)
14	g.58467812A>G	CA389875198	KIAA0586	c.2077A>G (p.Thr693Ala) n.2878A>G c.2332A>G (p.Thr778Ala) c.1081A>G (p.Thr361Ala) c.413A>G (n.413A>G) c.436A>G (p.Thr146Ala) c.1898A>G (n.1898A>G) c.2104A>G (p.Thr702Ala) c.2491A>G (p.Thr831Ala) c.2200A>G (p.Thr734Ala) n.1922A>G c.2287A>G (p.Thr763Ala) c.1912A>G (p.Thr638Ala) c.2455A>G (p.Thr819Ala) c.2356A>G (p.Thr786Ala) c.2101A>G (p.Thr701Ala) c.1936A>G (p.Thr646Ala)	dbSNP gnomAD v2 gnomAD v4
14	g.58467812A>T	CA389875200	KIAA0586	c.2077A>T (p.Thr693Ser) n.2878A>T c.2332A>T (p.Thr778Ser) c.1081A>T (p.Thr361Ser) c.413A>T (n.413A>T) c.436A>T (p.Thr146Ser) c.1898A>T (n.1898A>T) c.2104A>T (p.Thr702Ser) c.2491A>T (p.Thr831Ser) c.2200A>T (p.Thr734Ser) n.1922A>T c.2287A>T (p.Thr763Ser) c.1912A>T (p.Thr638Ser) c.2455A>T (p.Thr819Ser) c.2356A>T (p.Thr786Ser) c.2101A>T (p.Thr701Ser) c.1936A>T (p.Thr646Ser)
14	g.58467813C>A	CA389875202	KIAA0586	c.2078C>A (p.Thr693Asn) n.2879C>A c.2333C>A (p.Thr778Asn) c.1082C>A (p.Thr361Asn) c.414C>A (n.414C>A) c.437C>A (p.Thr146Asn) c.1899C>A (n.1899C>A) c.2105C>A (p.Thr702Asn) c.2492C>A (p.Thr831Asn) c.2201C>A (p.Thr734Asn) n.1923C>A c.2288C>A (p.Thr763Asn) c.1913C>A (p.Thr638Asn) c.2456C>A (p.Thr819Asn) c.2357C>A (p.Thr786Asn) c.2102C>A (p.Thr701Asn) c.1937C>A (p.Thr646Asn)
14	g.58467813C>G	CA389875203	KIAA0586	c.2078C>G (p.Thr693Ser) n.2879C>G c.2333C>G (p.Thr778Ser) c.1082C>G (p.Thr361Ser) c.414C>G (n.414C>G) c.437C>G (p.Thr146Ser) c.1899C>G (n.1899C>G) c.2105C>G (p.Thr702Ser) c.2492C>G (p.Thr831Ser) c.2201C>G (p.Thr734Ser) n.1923C>G c.2288C>G (p.Thr763Ser) c.1913C>G (p.Thr638Ser) c.2456C>G (p.Thr819Ser) c.2357C>G (p.Thr786Ser) c.2102C>G (p.Thr701Ser) c.1937C>G (p.Thr646Ser)
14	g.58467813C>T	CA389875205	KIAA0586	c.2078C>T (p.Thr693Ile) n.2879C>T c.2333C>T (p.Thr778Ile) c.1082C>T (p.Thr361Ile) c.414C>T (n.414C>T) c.437C>T (p.Thr146Ile) c.1899C>T (n.1899C>T) c.2105C>T (p.Thr702Ile) c.2492C>T (p.Thr831Ile) c.2201C>T (p.Thr734Ile) n.1923C>T c.2288C>T (p.Thr763Ile) c.1913C>T (p.Thr638Ile) c.2456C>T (p.Thr819Ile) c.2357C>T (p.Thr786Ile) c.2102C>T (p.Thr701Ile) c.1937C>T (p.Thr646Ile)	gnomAD v4
14	g.58467815_58467817del	CA2625061391	KIAA0586	c.2080_2082del (p.Ser694del) n.2881_2883del c.2335_2337del (p.Ser779del) c.1084_1086del (p.Ser362del) c.416_418del (n.416_418del) c.439_441del (p.Ser147del) c.1901_1903del (n.1901_1903del) c.2107_2109del (p.Ser703del) c.2494_2496del (p.Ser832del) c.2203_2205del (p.Ser735del) n.1925_1927del c.2290_2292del (p.Ser764del) c.1915_1917del (p.Ser639del) c.2458_2460del (p.Ser820del) c.2359_2361del (p.Ser787del) c.2104_2106del (p.Ser702del) c.1939_1941del (p.Ser647del)	gnomAD v4
14	g.58467814T>A	CA486542382	KIAA0586	c.2079T>A (p.Thr693=) n.2880T>A c.2334T>A (p.Thr778=) c.1083T>A (p.Thr361=) c.415T>A (n.415T>A) c.438T>A (p.Thr146=) c.1900T>A (n.1900T>A) c.2106T>A (p.Thr702=) c.2493T>A (p.Thr831=) c.2202T>A (p.Thr734=) n.1924T>A c.2289T>A (p.Thr763=) c.1914T>A (p.Thr638=) c.2457T>A (p.Thr819=) c.2358T>A (p.Thr786=) c.2103T>A (p.Thr701=) c.1938T>A (p.Thr646=)
14	g.58467814T>C	CA261637637	KIAA0586	c.2079T>C (p.Thr693=) n.2880T>C c.2334T>C (p.Thr778=) c.1083T>C (p.Thr361=) c.415T>C (n.415T>C) c.438T>C (p.Thr146=) c.1900T>C (n.1900T>C) c.2106T>C (p.Thr702=) c.2493T>C (p.Thr831=) c.2202T>C (p.Thr734=) n.1924T>C c.2289T>C (p.Thr763=) c.1914T>C (p.Thr638=) c.2457T>C (p.Thr819=) c.2358T>C (p.Thr786=) c.2103T>C (p.Thr701=) c.1938T>C (p.Thr646=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467814T>G	CA486542383	KIAA0586	c.2079T>G (p.Thr693=) n.2880T>G c.2334T>G (p.Thr778=) c.1083T>G (p.Thr361=) c.415T>G (n.415T>G) c.438T>G (p.Thr146=) c.1900T>G (n.1900T>G) c.2106T>G (p.Thr702=) c.2493T>G (p.Thr831=) c.2202T>G (p.Thr734=) n.1924T>G c.2289T>G (p.Thr763=) c.1914T>G (p.Thr638=) c.2457T>G (p.Thr819=) c.2358T>G (p.Thr786=) c.2103T>G (p.Thr701=) c.1938T>G (p.Thr646=)
14	g.58467814T=	CA2139919967	KIAA0586	c.2079T= (p.Thr693=) n.2880T= c.2334T= (p.Thr778=) c.1083T= (p.Thr361=) c.415T= (n.415T=) c.438T= (p.Thr146=) c.1900T= (n.1900T=) c.2106T= (p.Thr702=) c.2493T= (p.Thr831=) c.2202T= (p.Thr734=) n.1924T= c.2289T= (p.Thr763=) c.1914T= (p.Thr638=) c.2457T= (p.Thr819=) c.2358T= (p.Thr786=) c.2103T= (p.Thr701=) c.1938T= (p.Thr646=)
14	g.58467815T>A	CA389875207	KIAA0586	c.2080T>A (p.Ser694Thr) n.2881T>A c.2335T>A (p.Ser779Thr) c.1084T>A (p.Ser362Thr) c.416T>A (n.416T>A) c.439T>A (p.Ser147Thr) c.1901T>A (n.1901T>A) c.2107T>A (p.Ser703Thr) c.2494T>A (p.Ser832Thr) c.2203T>A (p.Ser735Thr) n.1925T>A c.2290T>A (p.Ser764Thr) c.1915T>A (p.Ser639Thr) c.2458T>A (p.Ser820Thr) c.2359T>A (p.Ser787Thr) c.2104T>A (p.Ser702Thr) c.1939T>A (p.Ser647Thr)
14	g.58467815T>C	CA389875210	KIAA0586	c.2080T>C (p.Ser694Pro) n.2881T>C c.2335T>C (p.Ser779Pro) c.1084T>C (p.Ser362Pro) c.416T>C (n.416T>C) c.439T>C (p.Ser147Pro) c.1901T>C (n.1901T>C) c.2107T>C (p.Ser703Pro) c.2494T>C (p.Ser832Pro) c.2203T>C (p.Ser735Pro) n.1925T>C c.2290T>C (p.Ser764Pro) c.1915T>C (p.Ser639Pro) c.2458T>C (p.Ser820Pro) c.2359T>C (p.Ser787Pro) c.2104T>C (p.Ser702Pro) c.1939T>C (p.Ser647Pro)
14	g.58467815T>G	CA389875208	KIAA0586	c.2080T>G (p.Ser694Ala) n.2881T>G c.2335T>G (p.Ser779Ala) c.1084T>G (p.Ser362Ala) c.416T>G (n.416T>G) c.439T>G (p.Ser147Ala) c.1901T>G (n.1901T>G) c.2107T>G (p.Ser703Ala) c.2494T>G (p.Ser832Ala) c.2203T>G (p.Ser735Ala) n.1925T>G c.2290T>G (p.Ser764Ala) c.1915T>G (p.Ser639Ala) c.2458T>G (p.Ser820Ala) c.2359T>G (p.Ser787Ala) c.2104T>G (p.Ser702Ala) c.1939T>G (p.Ser647Ala)
14	g.58467816C>A	CA389875212	KIAA0586	c.2081C>A (p.Ser694Tyr) n.2882C>A c.2336C>A (p.Ser779Tyr) c.1085C>A (p.Ser362Tyr) c.417C>A (n.417C>A) c.440C>A (p.Ser147Tyr) c.1902C>A (n.1902C>A) c.2108C>A (p.Ser703Tyr) c.2495C>A (p.Ser832Tyr) c.2204C>A (p.Ser735Tyr) n.1926C>A c.2291C>A (p.Ser764Tyr) c.1916C>A (p.Ser639Tyr) c.2459C>A (p.Ser820Tyr) c.2360C>A (p.Ser787Tyr) c.2105C>A (p.Ser702Tyr) c.1940C>A (p.Ser647Tyr)	ClinVar dbSNP
14	g.58467816C=	CA2139919971	KIAA0586	c.2081C= (p.Ser694=) n.2882C= c.2336C= (p.Ser779=) c.1085C= (p.Ser362=) c.417C= (n.417C=) c.440C= (p.Ser147=) c.1902C= (n.1902C=) c.2108C= (p.Ser703=) c.2495C= (p.Ser832=) c.2204C= (p.Ser735=) n.1926C= c.2291C= (p.Ser764=) c.1916C= (p.Ser639=) c.2459C= (p.Ser820=) c.2360C= (p.Ser787=) c.2105C= (p.Ser702=) c.1940C= (p.Ser647=)
14	g.58467816C>G	CA389875213	KIAA0586	c.2081C>G (p.Ser694Cys) n.2882C>G c.2336C>G (p.Ser779Cys) c.1085C>G (p.Ser362Cys) c.417C>G (n.417C>G) c.440C>G (p.Ser147Cys) c.1902C>G (n.1902C>G) c.2108C>G (p.Ser703Cys) c.2495C>G (p.Ser832Cys) c.2204C>G (p.Ser735Cys) n.1926C>G c.2291C>G (p.Ser764Cys) c.1916C>G (p.Ser639Cys) c.2459C>G (p.Ser820Cys) c.2360C>G (p.Ser787Cys) c.2105C>G (p.Ser702Cys) c.1940C>G (p.Ser647Cys)	dbSNP
14	g.58467816C>T	CA389875215	KIAA0586	c.2081C>T (p.Ser694Phe) n.2882C>T c.2336C>T (p.Ser779Phe) c.1085C>T (p.Ser362Phe) c.417C>T (n.417C>T) c.440C>T (p.Ser147Phe) c.1902C>T (n.1902C>T) c.2108C>T (p.Ser703Phe) c.2495C>T (p.Ser832Phe) c.2204C>T (p.Ser735Phe) n.1926C>T c.2291C>T (p.Ser764Phe) c.1916C>T (p.Ser639Phe) c.2459C>T (p.Ser820Phe) c.2360C>T (p.Ser787Phe) c.2105C>T (p.Ser702Phe) c.1940C>T (p.Ser647Phe)
14	g.58467817T>A	CA486542387	KIAA0586	c.2082T>A (p.Ser694=) n.2883T>A c.2337T>A (p.Ser779=) c.1086T>A (p.Ser362=) c.418T>A (n.418T>A) c.441T>A (p.Ser147=) c.1903T>A (n.1903T>A) c.2109T>A (p.Ser703=) c.2496T>A (p.Ser832=) c.2205T>A (p.Ser735=) n.1927T>A c.2292T>A (p.Ser764=) c.1917T>A (p.Ser639=) c.2460T>A (p.Ser820=) c.2361T>A (p.Ser787=) c.2106T>A (p.Ser702=) c.1941T>A (p.Ser647=)
14	g.58467817T>C	CA486542390	KIAA0586	c.2082T>C (p.Ser694=) n.2883T>C c.2337T>C (p.Ser779=) c.1086T>C (p.Ser362=) c.418T>C (n.418T>C) c.441T>C (p.Ser147=) c.1903T>C (n.1903T>C) c.2109T>C (p.Ser703=) c.2496T>C (p.Ser832=) c.2205T>C (p.Ser735=) n.1927T>C c.2292T>C (p.Ser764=) c.1917T>C (p.Ser639=) c.2460T>C (p.Ser820=) c.2361T>C (p.Ser787=) c.2106T>C (p.Ser702=) c.1941T>C (p.Ser647=)
14	g.58467817T>G	CA486542389	KIAA0586	c.2082T>G (p.Ser694=) n.2883T>G c.2337T>G (p.Ser779=) c.1086T>G (p.Ser362=) c.418T>G (n.418T>G) c.441T>G (p.Ser147=) c.1903T>G (n.1903T>G) c.2109T>G (p.Ser703=) c.2496T>G (p.Ser832=) c.2205T>G (p.Ser735=) n.1927T>G c.2292T>G (p.Ser764=) c.1917T>G (p.Ser639=) c.2460T>G (p.Ser820=) c.2361T>G (p.Ser787=) c.2106T>G (p.Ser702=) c.1941T>G (p.Ser647=)
14	g.58467818A=	CA2139919976	KIAA0586	c.2083A= (p.Ile695=) n.2884A= c.2338A= (p.Ile780=) c.1087A= (p.Ile363=) c.419A= (n.419A=) c.442A= (p.Ile148=) c.1904A= (n.1904A=) c.2110A= (p.Ile704=) c.2497A= (p.Ile833=) c.2206A= (p.Ile736=) n.1928A= c.2293A= (p.Ile765=) c.1918A= (p.Ile640=) c.2461A= (p.Ile821=) c.2362A= (p.Ile788=) c.2107A= (p.Ile703=) c.1942A= (p.Ile648=)
14	g.58467818A>C	CA389875217	KIAA0586	c.2083A>C (p.Ile695Leu) n.2884A>C c.2338A>C (p.Ile780Leu) c.1087A>C (p.Ile363Leu) c.419A>C (n.419A>C) c.442A>C (p.Ile148Leu) c.1904A>C (n.1904A>C) c.2110A>C (p.Ile704Leu) c.2497A>C (p.Ile833Leu) c.2206A>C (p.Ile736Leu) n.1928A>C c.2293A>C (p.Ile765Leu) c.1918A>C (p.Ile640Leu) c.2461A>C (p.Ile821Leu) c.2362A>C (p.Ile788Leu) c.2107A>C (p.Ile703Leu) c.1942A>C (p.Ile648Leu)
14	g.58467818A>G	CA7205845	KIAA0586	c.2083A>G (p.Ile695Val) n.2884A>G c.2338A>G (p.Ile780Val) c.1087A>G (p.Ile363Val) c.419A>G (n.419A>G) c.442A>G (p.Ile148Val) c.1904A>G (n.1904A>G) c.2110A>G (p.Ile704Val) c.2497A>G (p.Ile833Val) c.2206A>G (p.Ile736Val) n.1928A>G c.2293A>G (p.Ile765Val) c.1918A>G (p.Ile640Val) c.2461A>G (p.Ile821Val) c.2362A>G (p.Ile788Val) c.2107A>G (p.Ile703Val) c.1942A>G (p.Ile648Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14	g.58467818A>T	CA389875219	KIAA0586	c.2083A>T (p.Ile695Phe) n.2884A>T c.2338A>T (p.Ile780Phe) c.1087A>T (p.Ile363Phe) c.419A>T (n.419A>T) c.442A>T (p.Ile148Phe) c.1904A>T (n.1904A>T) c.2110A>T (p.Ile704Phe) c.2497A>T (p.Ile833Phe) c.2206A>T (p.Ile736Phe) n.1928A>T c.2293A>T (p.Ile765Phe) c.1918A>T (p.Ile640Phe) c.2461A>T (p.Ile821Phe) c.2362A>T (p.Ile788Phe) c.2107A>T (p.Ile703Phe) c.1942A>T (p.Ile648Phe)
14	g.58467819T>A	CA389875221	KIAA0586	c.2084T>A (p.Ile695Asn) n.2885T>A c.2339T>A (p.Ile780Asn) c.1088T>A (p.Ile363Asn) c.420T>A (n.420T>A) c.443T>A (p.Ile148Asn) c.1905T>A (n.1905T>A) c.2111T>A (p.Ile704Asn) c.2498T>A (p.Ile833Asn) c.2207T>A (p.Ile736Asn) n.1929T>A c.2294T>A (p.Ile765Asn) c.1919T>A (p.Ile640Asn) c.2462T>A (p.Ile821Asn) c.2363T>A (p.Ile788Asn) c.2108T>A (p.Ile703Asn) c.1943T>A (p.Ile648Asn)
14	g.58467819T>C	CA389875223	KIAA0586	c.2084T>C (p.Ile695Thr) n.2885T>C c.2339T>C (p.Ile780Thr) c.1088T>C (p.Ile363Thr) c.420T>C (n.420T>C) c.443T>C (p.Ile148Thr) c.1905T>C (n.1905T>C) c.2111T>C (p.Ile704Thr) c.2498T>C (p.Ile833Thr) c.2207T>C (p.Ile736Thr) n.1929T>C c.2294T>C (p.Ile765Thr) c.1919T>C (p.Ile640Thr) c.2462T>C (p.Ile821Thr) c.2363T>C (p.Ile788Thr) c.2108T>C (p.Ile703Thr) c.1943T>C (p.Ile648Thr)	gnomAD v4
14	g.58467819T>G	CA389875224	KIAA0586	c.2084T>G (p.Ile695Ser) n.2885T>G c.2339T>G (p.Ile780Ser) c.1088T>G (p.Ile363Ser) c.420T>G (n.420T>G) c.443T>G (p.Ile148Ser) c.1905T>G (n.1905T>G) c.2111T>G (p.Ile704Ser) c.2498T>G (p.Ile833Ser) c.2207T>G (p.Ile736Ser) n.1929T>G c.2294T>G (p.Ile765Ser) c.1919T>G (p.Ile640Ser) c.2462T>G (p.Ile821Ser) c.2363T>G (p.Ile788Ser) c.2108T>G (p.Ile703Ser) c.1943T>G (p.Ile648Ser)
14	g.58467820T>A	CA486542392	KIAA0586	c.2085T>A (p.Ile695=) n.2886T>A c.2340T>A (p.Ile780=) c.1089T>A (p.Ile363=) c.421T>A (n.421T>A) c.444T>A (p.Ile148=) c.1906T>A (n.1906T>A) c.2112T>A (p.Ile704=) c.2499T>A (p.Ile833=) c.2208T>A (p.Ile736=) n.1930T>A c.2295T>A (p.Ile765=) c.1920T>A (p.Ile640=) c.2463T>A (p.Ile821=) c.2364T>A (p.Ile788=) c.2109T>A (p.Ile703=) c.1944T>A (p.Ile648=)
14	g.58467820T>C	CA486542394	KIAA0586	c.2085T>C (p.Ile695=) n.2886T>C c.2340T>C (p.Ile780=) c.1089T>C (p.Ile363=) c.421T>C (n.421T>C) c.444T>C (p.Ile148=) c.1906T>C (n.1906T>C) c.2112T>C (p.Ile704=) c.2499T>C (p.Ile833=) c.2208T>C (p.Ile736=) n.1930T>C c.2295T>C (p.Ile765=) c.1920T>C (p.Ile640=) c.2463T>C (p.Ile821=) c.2364T>C (p.Ile788=) c.2109T>C (p.Ile703=) c.1944T>C (p.Ile648=)
14	g.58467820T>G	CA389875225	KIAA0586	c.2085T>G (p.Ile695Met) n.2886T>G c.2340T>G (p.Ile780Met) c.1089T>G (p.Ile363Met) c.421T>G (n.421T>G) c.444T>G (p.Ile148Met) c.1906T>G (n.1906T>G) c.2112T>G (p.Ile704Met) c.2499T>G (p.Ile833Met) c.2208T>G (p.Ile736Met) n.1930T>G c.2295T>G (p.Ile765Met) c.1920T>G (p.Ile640Met) c.2463T>G (p.Ile821Met) c.2364T>G (p.Ile788Met) c.2109T>G (p.Ile703Met) c.1944T>G (p.Ile648Met)
14	g.58467821C>A	CA389875227	KIAA0586	c.2086C>A (p.Pro696Thr) n.2887C>A c.2341C>A (p.Pro781Thr) c.1090C>A (p.Pro364Thr) c.422C>A (n.422C>A) c.445C>A (p.Pro149Thr) c.1907C>A (n.1907C>A) c.2113C>A (p.Pro705Thr) c.2500C>A (p.Pro834Thr) c.2209C>A (p.Pro737Thr) n.1931C>A c.2296C>A (p.Pro766Thr) c.1921C>A (p.Pro641Thr) c.2464C>A (p.Pro822Thr) c.2365C>A (p.Pro789Thr) c.2110C>A (p.Pro704Thr) c.1945C>A (p.Pro649Thr)
14	g.58467821C=	CA2139919981	KIAA0586	c.2086C= (p.Pro696=) n.2887C= c.2341C= (p.Pro781=) c.1090C= (p.Pro364=) c.422C= (n.422C=) c.445C= (p.Pro149=) c.1907C= (n.1907C=) c.2113C= (p.Pro705=) c.2500C= (p.Pro834=) c.2209C= (p.Pro737=) n.1931C= c.2296C= (p.Pro766=) c.1921C= (p.Pro641=) c.2464C= (p.Pro822=) c.2365C= (p.Pro789=) c.2110C= (p.Pro704=) c.1945C= (p.Pro649=)
14	g.58467821C>G	CA389875229	KIAA0586	c.2086C>G (p.Pro696Ala) n.2887C>G c.2341C>G (p.Pro781Ala) c.1090C>G (p.Pro364Ala) c.422C>G (n.422C>G) c.445C>G (p.Pro149Ala) c.1907C>G (n.1907C>G) c.2113C>G (p.Pro705Ala) c.2500C>G (p.Pro834Ala) c.2209C>G (p.Pro737Ala) n.1931C>G c.2296C>G (p.Pro766Ala) c.1921C>G (p.Pro641Ala) c.2464C>G (p.Pro822Ala) c.2365C>G (p.Pro789Ala) c.2110C>G (p.Pro704Ala) c.1945C>G (p.Pro649Ala)
14	g.58467821C>T	CA389875230	KIAA0586	c.2086C>T (p.Pro696Ser) n.2887C>T c.2341C>T (p.Pro781Ser) c.1090C>T (p.Pro364Ser) c.422C>T (n.422C>T) c.445C>T (p.Pro149Ser) c.1907C>T (n.1907C>T) c.2113C>T (p.Pro705Ser) c.2500C>T (p.Pro834Ser) c.2209C>T (p.Pro737Ser) n.1931C>T c.2296C>T (p.Pro766Ser) c.1921C>T (p.Pro641Ser) c.2464C>T (p.Pro822Ser) c.2365C>T (p.Pro789Ser) c.2110C>T (p.Pro704Ser) c.1945C>T (p.Pro649Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467822del	CA2625061393	KIAA0586	c.2087del (p.Pro696LeufsTer7) n.2888del c.2342del (p.Pro781LeufsTer7) c.1091del (p.Pro364LeufsTer7) c.423del (n.423del) c.446del (p.Pro149LeufsTer7) c.1908del (n.1908del) c.2114del (p.Pro705LeufsTer7) c.2501del (p.Pro834LeufsTer7) c.2210del (p.Pro737LeufsTer7) n.1932del c.2297del (p.Pro766LeufsTer7) c.1922del (p.Pro641LeufsTer7) c.2465del (p.Pro822LeufsTer7) c.2366del (p.Pro789LeufsTer7) c.2111del (p.Pro704LeufsTer7) c.1946del (p.Pro649LeufsTer7)	gnomAD v4
14	g.58467822C>A	CA389875231	KIAA0586	c.2087C>A (p.Pro696His) n.2888C>A c.2342C>A (p.Pro781His) c.1091C>A (p.Pro364His) c.423C>A (n.423C>A) c.446C>A (p.Pro149His) c.1908C>A (n.1908C>A) c.2114C>A (p.Pro705His) c.2501C>A (p.Pro834His) c.2210C>A (p.Pro737His) n.1932C>A c.2297C>A (p.Pro766His) c.1922C>A (p.Pro641His) c.2465C>A (p.Pro822His) c.2366C>A (p.Pro789His) c.2111C>A (p.Pro704His) c.1946C>A (p.Pro649His)
14	g.58467822C=	CA2139919983	KIAA0586	c.2087C= (p.Pro696=) n.2888C= c.2342C= (p.Pro781=) c.1091C= (p.Pro364=) c.423C= (n.423C=) c.446C= (p.Pro149=) c.1908C= (n.1908C=) c.2114C= (p.Pro705=) c.2501C= (p.Pro834=) c.2210C= (p.Pro737=) n.1932C= c.2297C= (p.Pro766=) c.1922C= (p.Pro641=) c.2465C= (p.Pro822=) c.2366C= (p.Pro789=) c.2111C= (p.Pro704=) c.1946C= (p.Pro649=)
14	g.58467822C>G	CA389875234	KIAA0586	c.2087C>G (p.Pro696Arg) n.2888C>G c.2342C>G (p.Pro781Arg) c.1091C>G (p.Pro364Arg) c.423C>G (n.423C>G) c.446C>G (p.Pro149Arg) c.1908C>G (n.1908C>G) c.2114C>G (p.Pro705Arg) c.2501C>G (p.Pro834Arg) c.2210C>G (p.Pro737Arg) n.1932C>G c.2297C>G (p.Pro766Arg) c.1922C>G (p.Pro641Arg) c.2465C>G (p.Pro822Arg) c.2366C>G (p.Pro789Arg) c.2111C>G (p.Pro704Arg) c.1946C>G (p.Pro649Arg)
14	g.58467822C>T	CA389875233	KIAA0586	c.2087C>T (p.Pro696Leu) n.2888C>T c.2342C>T (p.Pro781Leu) c.1091C>T (p.Pro364Leu) c.423C>T (n.423C>T) c.446C>T (p.Pro149Leu) c.1908C>T (n.1908C>T) c.2114C>T (p.Pro705Leu) c.2501C>T (p.Pro834Leu) c.2210C>T (p.Pro737Leu) n.1932C>T c.2297C>T (p.Pro766Leu) c.1922C>T (p.Pro641Leu) c.2465C>T (p.Pro822Leu) c.2366C>T (p.Pro789Leu) c.2111C>T (p.Pro704Leu) c.1946C>T (p.Pro649Leu)	dbSNP
14	g.58467823T>A	CA486542398	KIAA0586	c.2088T>A (p.Pro696=) n.2889T>A c.2343T>A (p.Pro781=) c.1092T>A (p.Pro364=) c.424T>A (n.424T>A) c.447T>A (p.Pro149=) c.1909T>A (n.1909T>A) c.2115T>A (p.Pro705=) c.2502T>A (p.Pro834=) c.2211T>A (p.Pro737=) n.1933T>A c.2298T>A (p.Pro766=) c.1923T>A (p.Pro641=) c.2466T>A (p.Pro822=) c.2367T>A (p.Pro789=) c.2112T>A (p.Pro704=) c.1947T>A (p.Pro649=)
14	g.58467823T>C	CA261637645	KIAA0586	c.2088T>C (p.Pro696=) n.2889T>C c.2343T>C (p.Pro781=) c.1092T>C (p.Pro364=) c.424T>C (n.424T>C) c.447T>C (p.Pro149=) c.1909T>C (n.1909T>C) c.2115T>C (p.Pro705=) c.2502T>C (p.Pro834=) c.2211T>C (p.Pro737=) n.1933T>C c.2298T>C (p.Pro766=) c.1923T>C (p.Pro641=) c.2466T>C (p.Pro822=) c.2367T>C (p.Pro789=) c.2112T>C (p.Pro704=) c.1947T>C (p.Pro649=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467823T>G	CA486542400	KIAA0586	c.2088T>G (p.Pro696=) n.2889T>G c.2343T>G (p.Pro781=) c.1092T>G (p.Pro364=) c.424T>G (n.424T>G) c.447T>G (p.Pro149=) c.1909T>G (n.1909T>G) c.2115T>G (p.Pro705=) c.2502T>G (p.Pro834=) c.2211T>G (p.Pro737=) n.1933T>G c.2298T>G (p.Pro766=) c.1923T>G (p.Pro641=) c.2466T>G (p.Pro822=) c.2367T>G (p.Pro789=) c.2112T>G (p.Pro704=) c.1947T>G (p.Pro649=)
14	g.58467823T=	CA2139919990	KIAA0586	c.2088T= (p.Pro696=) n.2889T= c.2343T= (p.Pro781=) c.1092T= (p.Pro364=) c.424T= (n.424T=) c.447T= (p.Pro149=) c.1909T= (n.1909T=) c.2115T= (p.Pro705=) c.2502T= (p.Pro834=) c.2211T= (p.Pro737=) n.1933T= c.2298T= (p.Pro766=) c.1923T= (p.Pro641=) c.2466T= (p.Pro822=) c.2367T= (p.Pro789=) c.2112T= (p.Pro704=) c.1947T= (p.Pro649=)
14	g.58467824C>A	CA389875237	KIAA0586	c.2089C>A (p.Pro697Thr) n.2890C>A c.2344C>A (p.Pro782Thr) c.1093C>A (p.Pro365Thr) c.425C>A (n.425C>A) c.448C>A (p.Pro150Thr) c.1910C>A (n.1910C>A) c.2116C>A (p.Pro706Thr) c.2503C>A (p.Pro835Thr) c.2212C>A (p.Pro738Thr) n.1934C>A c.2299C>A (p.Pro767Thr) c.1924C>A (p.Pro642Thr) c.2467C>A (p.Pro823Thr) c.2368C>A (p.Pro790Thr) c.2113C>A (p.Pro705Thr) c.1948C>A (p.Pro650Thr)	dbSNP
14	g.58467824C=	CA2139919996	KIAA0586	c.2089C= (p.Pro697=) n.2890C= c.2344C= (p.Pro782=) c.1093C= (p.Pro365=) c.425C= (n.425C=) c.448C= (p.Pro150=) c.1910C= (n.1910C=) c.2116C= (p.Pro706=) c.2503C= (p.Pro835=) c.2212C= (p.Pro738=) n.1934C= c.2299C= (p.Pro767=) c.1924C= (p.Pro642=) c.2467C= (p.Pro823=) c.2368C= (p.Pro790=) c.2113C= (p.Pro705=) c.1948C= (p.Pro650=)
14	g.58467824C>G	CA389875238	KIAA0586	c.2089C>G (p.Pro697Ala) n.2890C>G c.2344C>G (p.Pro782Ala) c.1093C>G (p.Pro365Ala) c.425C>G (n.425C>G) c.448C>G (p.Pro150Ala) c.1910C>G (n.1910C>G) c.2116C>G (p.Pro706Ala) c.2503C>G (p.Pro835Ala) c.2212C>G (p.Pro738Ala) n.1934C>G c.2299C>G (p.Pro767Ala) c.1924C>G (p.Pro642Ala) c.2467C>G (p.Pro823Ala) c.2368C>G (p.Pro790Ala) c.2113C>G (p.Pro705Ala) c.1948C>G (p.Pro650Ala)
14	g.58467824C>T	CA389875240	KIAA0586	c.2089C>T (p.Pro697Ser) n.2890C>T c.2344C>T (p.Pro782Ser) c.1093C>T (p.Pro365Ser) c.425C>T (n.425C>T) c.448C>T (p.Pro150Ser) c.1910C>T (n.1910C>T) c.2116C>T (p.Pro706Ser) c.2503C>T (p.Pro835Ser) c.2212C>T (p.Pro738Ser) n.1934C>T c.2299C>T (p.Pro767Ser) c.1924C>T (p.Pro642Ser) c.2467C>T (p.Pro823Ser) c.2368C>T (p.Pro790Ser) c.2113C>T (p.Pro705Ser) c.1948C>T (p.Pro650Ser)	gnomAD v4
14	g.58467825C>A	CA389875242	KIAA0586	c.2090C>A (p.Pro697Gln) n.2891C>A c.2345C>A (p.Pro782Gln) c.1094C>A (p.Pro365Gln) c.426C>A (n.426C>A) c.449C>A (p.Pro150Gln) c.1911C>A (n.1911C>A) c.2117C>A (p.Pro706Gln) c.2504C>A (p.Pro835Gln) c.2213C>A (p.Pro738Gln) n.1935C>A c.2300C>A (p.Pro767Gln) c.1925C>A (p.Pro642Gln) c.2468C>A (p.Pro823Gln) c.2369C>A (p.Pro790Gln) c.2114C>A (p.Pro705Gln) c.1949C>A (p.Pro650Gln)
14	g.58467825C>G	CA389875243	KIAA0586	c.2090C>G (p.Pro697Arg) n.2891C>G c.2345C>G (p.Pro782Arg) c.1094C>G (p.Pro365Arg) c.426C>G (n.426C>G) c.449C>G (p.Pro150Arg) c.1911C>G (n.1911C>G) c.2117C>G (p.Pro706Arg) c.2504C>G (p.Pro835Arg) c.2213C>G (p.Pro738Arg) n.1935C>G c.2300C>G (p.Pro767Arg) c.1925C>G (p.Pro642Arg) c.2468C>G (p.Pro823Arg) c.2369C>G (p.Pro790Arg) c.2114C>G (p.Pro705Arg) c.1949C>G (p.Pro650Arg)
14	g.58467825C>T	CA389875245	KIAA0586	c.2090C>T (p.Pro697Leu) n.2891C>T c.2345C>T (p.Pro782Leu) c.1094C>T (p.Pro365Leu) c.426C>T (n.426C>T) c.449C>T (p.Pro150Leu) c.1911C>T (n.1911C>T) c.2117C>T (p.Pro706Leu) c.2504C>T (p.Pro835Leu) c.2213C>T (p.Pro738Leu) n.1935C>T c.2300C>T (p.Pro767Leu) c.1925C>T (p.Pro642Leu) c.2468C>T (p.Pro823Leu) c.2369C>T (p.Pro790Leu) c.2114C>T (p.Pro705Leu) c.1949C>T (p.Pro650Leu)
14	g.58467826A=	CA2139920000	KIAA0586	c.2091A= (p.Pro697=) n.2892A= c.2346A= (p.Pro782=) c.1095A= (p.Pro365=) c.427A= (n.427A=) c.450A= (p.Pro150=) c.1912A= (n.1912A=) c.2118A= (p.Pro706=) c.2505A= (p.Pro835=) c.2214A= (p.Pro738=) n.1936A= c.2301A= (p.Pro767=) c.1926A= (p.Pro642=) c.2469A= (p.Pro823=) c.2370A= (p.Pro790=) c.2115A= (p.Pro705=) c.1950A= (p.Pro650=)
14	g.58467826A>C	CA486542403	KIAA0586	c.2091A>C (p.Pro697=) n.2892A>C c.2346A>C (p.Pro782=) c.1095A>C (p.Pro365=) c.427A>C (n.427A>C) c.450A>C (p.Pro150=) c.1912A>C (n.1912A>C) c.2118A>C (p.Pro706=) c.2505A>C (p.Pro835=) c.2214A>C (p.Pro738=) n.1936A>C c.2301A>C (p.Pro767=) c.1926A>C (p.Pro642=) c.2469A>C (p.Pro823=) c.2370A>C (p.Pro790=) c.2115A>C (p.Pro705=) c.1950A>C (p.Pro650=)	dbSNP gnomAD v2 gnomAD v4
14	g.58467826A>G	CA7205846	KIAA0586	c.2091A>G (p.Pro697=) n.2892A>G c.2346A>G (p.Pro782=) c.1095A>G (p.Pro365=) c.427A>G (n.427A>G) c.450A>G (p.Pro150=) c.1912A>G (n.1912A>G) c.2118A>G (p.Pro706=) c.2505A>G (p.Pro835=) c.2214A>G (p.Pro738=) n.1936A>G c.2301A>G (p.Pro767=) c.1926A>G (p.Pro642=) c.2469A>G (p.Pro823=) c.2370A>G (p.Pro790=) c.2115A>G (p.Pro705=) c.1950A>G (p.Pro650=)	dbSNP ExAC gnomAD v2 gnomAD v4
14	g.58467826A>T	CA486542404	KIAA0586	c.2091A>T (p.Pro697=) n.2892A>T c.2346A>T (p.Pro782=) c.1095A>T (p.Pro365=) c.427A>T (n.427A>T) c.450A>T (p.Pro150=) c.1912A>T (n.1912A>T) c.2118A>T (p.Pro706=) c.2505A>T (p.Pro835=) c.2214A>T (p.Pro738=) n.1936A>T c.2301A>T (p.Pro767=) c.1926A>T (p.Pro642=) c.2469A>T (p.Pro823=) c.2370A>T (p.Pro790=) c.2115A>T (p.Pro705=) c.1950A>T (p.Pro650=)
14	g.58467827T>A	CA389875248	KIAA0586	c.2092T>A (p.Ser698Thr) n.2893T>A c.2347T>A (p.Ser783Thr) c.1096T>A (p.Ser366Thr) c.428T>A (n.428T>A) c.451T>A (p.Ser151Thr) c.1913T>A (n.1913T>A) c.2119T>A (p.Ser707Thr) c.2506T>A (p.Ser836Thr) c.2215T>A (p.Ser739Thr) n.1937T>A c.2302T>A (p.Ser768Thr) c.1927T>A (p.Ser643Thr) c.2470T>A (p.Ser824Thr) c.2371T>A (p.Ser791Thr) c.2116T>A (p.Ser706Thr) c.1951T>A (p.Ser651Thr)
14	g.58467827T>C	CA389875249	KIAA0586	c.2092T>C (p.Ser698Pro) n.2893T>C c.2347T>C (p.Ser783Pro) c.1096T>C (p.Ser366Pro) c.428T>C (n.428T>C) c.451T>C (p.Ser151Pro) c.1913T>C (n.1913T>C) c.2119T>C (p.Ser707Pro) c.2506T>C (p.Ser836Pro) c.2215T>C (p.Ser739Pro) n.1937T>C c.2302T>C (p.Ser768Pro) c.1927T>C (p.Ser643Pro) c.2470T>C (p.Ser824Pro) c.2371T>C (p.Ser791Pro) c.2116T>C (p.Ser706Pro) c.1951T>C (p.Ser651Pro)
14	g.58467827T>G	CA389875250	KIAA0586	c.2092T>G (p.Ser698Ala) n.2893T>G c.2347T>G (p.Ser783Ala) c.1096T>G (p.Ser366Ala) c.428T>G (n.428T>G) c.451T>G (p.Ser151Ala) c.1913T>G (n.1913T>G) c.2119T>G (p.Ser707Ala) c.2506T>G (p.Ser836Ala) c.2215T>G (p.Ser739Ala) n.1937T>G c.2302T>G (p.Ser768Ala) c.1927T>G (p.Ser643Ala) c.2470T>G (p.Ser824Ala) c.2371T>G (p.Ser791Ala) c.2116T>G (p.Ser706Ala) c.1951T>G (p.Ser651Ala)
14	g.58467828C>A	CA389875251	KIAA0586	c.2093C>A (p.Ser698Ter) n.2894C>A c.2348C>A (p.Ser783Ter) c.1097C>A (p.Ser366Ter) c.429C>A (n.429C>A) c.452C>A (p.Ser151Ter) c.1914C>A (n.1914C>A) c.2120C>A (p.Ser707Ter) c.2507C>A (p.Ser836Ter) c.2216C>A (p.Ser739Ter) n.1938C>A c.2303C>A (p.Ser768Ter) c.1928C>A (p.Ser643Ter) c.2471C>A (p.Ser824Ter) c.2372C>A (p.Ser791Ter) c.2117C>A (p.Ser706Ter) c.1952C>A (p.Ser651Ter)
14	g.58467828C>G	CA389875252	KIAA0586	c.2093C>G (p.Ser698Ter) n.2894C>G c.2348C>G (p.Ser783Ter) c.1097C>G (p.Ser366Ter) c.429C>G (n.429C>G) c.452C>G (p.Ser151Ter) c.1914C>G (n.1914C>G) c.2120C>G (p.Ser707Ter) c.2507C>G (p.Ser836Ter) c.2216C>G (p.Ser739Ter) n.1938C>G c.2303C>G (p.Ser768Ter) c.1928C>G (p.Ser643Ter) c.2471C>G (p.Ser824Ter) c.2372C>G (p.Ser791Ter) c.2117C>G (p.Ser706Ter) c.1952C>G (p.Ser651Ter)
14	g.58467828C>T	CA389875254	KIAA0586	c.2093C>T (p.Ser698Leu) n.2894C>T c.2348C>T (p.Ser783Leu) c.1097C>T (p.Ser366Leu) c.429C>T (n.429C>T) c.452C>T (p.Ser151Leu) c.1914C>T (n.1914C>T) c.2120C>T (p.Ser707Leu) c.2507C>T (p.Ser836Leu) c.2216C>T (p.Ser739Leu) n.1938C>T c.2303C>T (p.Ser768Leu) c.1928C>T (p.Ser643Leu) c.2471C>T (p.Ser824Leu) c.2372C>T (p.Ser791Leu) c.2117C>T (p.Ser706Leu) c.1952C>T (p.Ser651Leu)	ClinVar
14	g.58467829A>C	CA486542409	KIAA0586	c.2094A>C (p.Ser698=) n.2895A>C c.2349A>C (p.Ser783=) c.1098A>C (p.Ser366=) c.430A>C (n.430A>C) c.453A>C (p.Ser151=) c.1915A>C (n.1915A>C) c.2121A>C (p.Ser707=) c.2508A>C (p.Ser836=) c.2217A>C (p.Ser739=) n.1939A>C c.2304A>C (p.Ser768=) c.1929A>C (p.Ser643=) c.2472A>C (p.Ser824=) c.2373A>C (p.Ser791=) c.2118A>C (p.Ser706=) c.1953A>C (p.Ser651=)
14	g.58467829A>G	CA486542410	KIAA0586	c.2094A>G (p.Ser698=) n.2895A>G c.2349A>G (p.Ser783=) c.1098A>G (p.Ser366=) c.430A>G (n.430A>G) c.453A>G (p.Ser151=) c.1915A>G (n.1915A>G) c.2121A>G (p.Ser707=) c.2508A>G (p.Ser836=) c.2217A>G (p.Ser739=) n.1939A>G c.2304A>G (p.Ser768=) c.1929A>G (p.Ser643=) c.2472A>G (p.Ser824=) c.2373A>G (p.Ser791=) c.2118A>G (p.Ser706=) c.1953A>G (p.Ser651=)
14	g.58467829A>T	CA486542411	KIAA0586	c.2094A>T (p.Ser698=) n.2895A>T c.2349A>T (p.Ser783=) c.1098A>T (p.Ser366=) c.430A>T (n.430A>T) c.453A>T (p.Ser151=) c.1915A>T (n.1915A>T) c.2121A>T (p.Ser707=) c.2508A>T (p.Ser836=) c.2217A>T (p.Ser739=) n.1939A>T c.2304A>T (p.Ser768=) c.1929A>T (p.Ser643=) c.2472A>T (p.Ser824=) c.2373A>T (p.Ser791=) c.2118A>T (p.Ser706=) c.1953A>T (p.Ser651=)
14	g.58467830T>A	CA389875255	KIAA0586	c.2095T>A (p.Ser699Thr) n.2896T>A c.2350T>A (p.Ser784Thr) c.1099T>A (p.Ser367Thr) c.431T>A (n.431T>A) c.454T>A (p.Ser152Thr) c.1916T>A (n.1916T>A) c.2122T>A (p.Ser708Thr) c.2509T>A (p.Ser837Thr) c.2218T>A (p.Ser740Thr) n.1940T>A c.2305T>A (p.Ser769Thr) c.1930T>A (p.Ser644Thr) c.2473T>A (p.Ser825Thr) c.2374T>A (p.Ser792Thr) c.2119T>A (p.Ser707Thr) c.1954T>A (p.Ser652Thr)
14	g.58467830T>C	CA7205847	KIAA0586	c.2095T>C (p.Ser699Pro) n.2896T>C c.2350T>C (p.Ser784Pro) c.1099T>C (p.Ser367Pro) c.431T>C (n.431T>C) c.454T>C (p.Ser152Pro) c.1916T>C (n.1916T>C) c.2122T>C (p.Ser708Pro) c.2509T>C (p.Ser837Pro) c.2218T>C (p.Ser740Pro) n.1940T>C c.2305T>C (p.Ser769Pro) c.1930T>C (p.Ser644Pro) c.2473T>C (p.Ser825Pro) c.2374T>C (p.Ser792Pro) c.2119T>C (p.Ser707Pro) c.1954T>C (p.Ser652Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14	g.58467830T>G	CA389875257	KIAA0586	c.2095T>G (p.Ser699Ala) n.2896T>G c.2350T>G (p.Ser784Ala) c.1099T>G (p.Ser367Ala) c.431T>G (n.431T>G) c.454T>G (p.Ser152Ala) c.1916T>G (n.1916T>G) c.2122T>G (p.Ser708Ala) c.2509T>G (p.Ser837Ala) c.2218T>G (p.Ser740Ala) n.1940T>G c.2305T>G (p.Ser769Ala) c.1930T>G (p.Ser644Ala) c.2473T>G (p.Ser825Ala) c.2374T>G (p.Ser792Ala) c.2119T>G (p.Ser707Ala) c.1954T>G (p.Ser652Ala)	dbSNP gnomAD v2 gnomAD v4
14	g.58467830T=	CA2139920003	KIAA0586	c.2095T= (p.Ser699=) n.2896T= c.2350T= (p.Ser784=) c.1099T= (p.Ser367=) c.431T= (n.431T=) c.454T= (p.Ser152=) c.1916T= (n.1916T=) c.2122T= (p.Ser708=) c.2509T= (p.Ser837=) c.2218T= (p.Ser740=) n.1940T= c.2305T= (p.Ser769=) c.1930T= (p.Ser644=) c.2473T= (p.Ser825=) c.2374T= (p.Ser792=) c.2119T= (p.Ser707=) c.1954T= (p.Ser652=)
14	g.58467831C>A	CA389875259	KIAA0586	c.2096C>A (p.Ser699Tyr) n.2897C>A c.2351C>A (p.Ser784Tyr) c.1100C>A (p.Ser367Tyr) c.432C>A (n.432C>A) c.455C>A (p.Ser152Tyr) c.1917C>A (n.1917C>A) c.2123C>A (p.Ser708Tyr) c.2510C>A (p.Ser837Tyr) c.2219C>A (p.Ser740Tyr) n.1941C>A c.2306C>A (p.Ser769Tyr) c.1931C>A (p.Ser644Tyr) c.2474C>A (p.Ser825Tyr) c.2375C>A (p.Ser792Tyr) c.2120C>A (p.Ser707Tyr) c.1955C>A (p.Ser652Tyr)
14	g.58467831C>G	CA389875260	KIAA0586	c.2096C>G (p.Ser699Cys) n.2897C>G c.2351C>G (p.Ser784Cys) c.1100C>G (p.Ser367Cys) c.432C>G (n.432C>G) c.455C>G (p.Ser152Cys) c.1917C>G (n.1917C>G) c.2123C>G (p.Ser708Cys) c.2510C>G (p.Ser837Cys) c.2219C>G (p.Ser740Cys) n.1941C>G c.2306C>G (p.Ser769Cys) c.1931C>G (p.Ser644Cys) c.2474C>G (p.Ser825Cys) c.2375C>G (p.Ser792Cys) c.2120C>G (p.Ser707Cys) c.1955C>G (p.Ser652Cys)
14	g.58467831C>T	CA389875262	KIAA0586	c.2096C>T (p.Ser699Phe) n.2897C>T c.2351C>T (p.Ser784Phe) c.1100C>T (p.Ser367Phe) c.432C>T (n.432C>T) c.455C>T (p.Ser152Phe) c.1917C>T (n.1917C>T) c.2123C>T (p.Ser708Phe) c.2510C>T (p.Ser837Phe) c.2219C>T (p.Ser740Phe) n.1941C>T c.2306C>T (p.Ser769Phe) c.1931C>T (p.Ser644Phe) c.2474C>T (p.Ser825Phe) c.2375C>T (p.Ser792Phe) c.2120C>T (p.Ser707Phe) c.1955C>T (p.Ser652Phe)
14	g.58467832T>A	CA486542413	KIAA0586	c.2097T>A (p.Ser699=) n.2898T>A c.2352T>A (p.Ser784=) c.1101T>A (p.Ser367=) c.433T>A (n.433T>A) c.456T>A (p.Ser152=) c.1918T>A (n.1918T>A) c.2124T>A (p.Ser708=) c.2511T>A (p.Ser837=) c.2220T>A (p.Ser740=) n.1942T>A c.2307T>A (p.Ser769=) c.1932T>A (p.Ser644=) c.2475T>A (p.Ser825=) c.2376T>A (p.Ser792=) c.2121T>A (p.Ser707=) c.1956T>A (p.Ser652=)
14	g.58467832T>C	CA486542414	KIAA0586	c.2097T>C (p.Ser699=) n.2898T>C c.2352T>C (p.Ser784=) c.1101T>C (p.Ser367=) c.433T>C (n.433T>C) c.456T>C (p.Ser152=) c.1918T>C (n.1918T>C) c.2124T>C (p.Ser708=) c.2511T>C (p.Ser837=) c.2220T>C (p.Ser740=) n.1942T>C c.2307T>C (p.Ser769=) c.1932T>C (p.Ser644=) c.2475T>C (p.Ser825=) c.2376T>C (p.Ser792=) c.2121T>C (p.Ser707=) c.1956T>C (p.Ser652=)	gnomAD v4
14	g.58467832T>G	CA486542415	KIAA0586	c.2097T>G (p.Ser699=) n.2898T>G c.2352T>G (p.Ser784=) c.1101T>G (p.Ser367=) c.433T>G (n.433T>G) c.456T>G (p.Ser152=) c.1918T>G (n.1918T>G) c.2124T>G (p.Ser708=) c.2511T>G (p.Ser837=) c.2220T>G (p.Ser740=) n.1942T>G c.2307T>G (p.Ser769=) c.1932T>G (p.Ser644=) c.2475T>G (p.Ser825=) c.2376T>G (p.Ser792=) c.2121T>G (p.Ser707=) c.1956T>G (p.Ser652=)
14	g.58467833C>A	CA486542417	KIAA0586	c.2098C>A (p.Arg700=) n.2899C>A c.2353C>A (p.Arg785=) c.1102C>A (p.Arg368=) c.434C>A (n.434C>A) c.457C>A (p.Arg153=) c.1919C>A (n.1919C>A) c.2125C>A (p.Arg709=) c.2512C>A (p.Arg838=) c.2221C>A (p.Arg741=) n.1943C>A c.2308C>A (p.Arg770=) c.1933C>A (p.Arg645=) c.2476C>A (p.Arg826=) c.2377C>A (p.Arg793=) c.2122C>A (p.Arg708=) c.1957C>A (p.Arg653=)
14	g.58467833C=	CA2139920011	KIAA0586	c.2098C= (p.Arg700=) n.2899C= c.2353C= (p.Arg785=) c.1102C= (p.Arg368=) c.434C= (n.434C=) c.457C= (p.Arg153=) c.1919C= (n.1919C=) c.2125C= (p.Arg709=) c.2512C= (p.Arg838=) c.2221C= (p.Arg741=) n.1943C= c.2308C= (p.Arg770=) c.1933C= (p.Arg645=) c.2476C= (p.Arg826=) c.2377C= (p.Arg793=) c.2122C= (p.Arg708=) c.1957C= (p.Arg653=)
14	g.58467833C>G	CA389875264	KIAA0586	c.2098C>G (p.Arg700Gly) n.2899C>G c.2353C>G (p.Arg785Gly) c.1102C>G (p.Arg368Gly) c.434C>G (n.434C>G) c.457C>G (p.Arg153Gly) c.1919C>G (n.1919C>G) c.2125C>G (p.Arg709Gly) c.2512C>G (p.Arg838Gly) c.2221C>G (p.Arg741Gly) n.1943C>G c.2308C>G (p.Arg770Gly) c.1933C>G (p.Arg645Gly) c.2476C>G (p.Arg826Gly) c.2377C>G (p.Arg793Gly) c.2122C>G (p.Arg708Gly) c.1957C>G (p.Arg653Gly)
14	g.58467833C>T	CA16619879	KIAA0586	c.2098C>T (p.Arg700Ter) n.2899C>T c.2353C>T (p.Arg785Ter) c.1102C>T (p.Arg368Ter) c.434C>T (n.434C>T) c.457C>T (p.Arg153Ter) c.1919C>T (n.1919C>T) c.2125C>T (p.Arg709Ter) c.2512C>T (p.Arg838Ter) c.2221C>T (p.Arg741Ter) n.1943C>T c.2308C>T (p.Arg770Ter) c.1933C>T (p.Arg645Ter) c.2476C>T (p.Arg826Ter) c.2377C>T (p.Arg793Ter) c.2122C>T (p.Arg708Ter) c.1957C>T (p.Arg653Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched