Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.43048364C>A	CA364218924	CUL7,KLC4	c.2031G>T (p.Glu677Asp) n.2314G>T c.2127G>T (p.Glu709Asp) n.2330G>T n.2365G>T c.523G>T c.-553+4856C>A (n.-553+4856C>A) c.2283G>T (p.Glu761Asp) c.2187G>T (p.Glu729Asp) c.-152G>T (n.-152G>T) c.2310G>T (p.Glu770Asp) c.2214G>T (p.Glu738Asp) c.2154G>T (p.Glu718Asp) c.2058G>T (p.Glu686Asp)
6	g.43048364C>G	CA364218927	CUL7,KLC4	c.2031G>C (p.Glu677Asp) n.2314G>C c.2127G>C (p.Glu709Asp) n.2330G>C n.2365G>C c.523G>C c.-553+4856C>G (n.-553+4856C>G) c.2283G>C (p.Glu761Asp) c.2187G>C (p.Glu729Asp) c.-152G>C (n.-152G>C) c.2310G>C (p.Glu770Asp) c.2214G>C (p.Glu738Asp) c.2154G>C (p.Glu718Asp) c.2058G>C (p.Glu686Asp)
6	g.43048364C>T	CA450261708	CUL7,KLC4	c.2031G>A (p.Glu677=) n.2314G>A c.2127G>A (p.Glu709=) n.2330G>A n.2365G>A c.523G>A c.-553+4856C>T (n.-553+4856C>T) c.2283G>A (p.Glu761=) c.2187G>A (p.Glu729=) c.-152G>A (n.-152G>A) c.2310G>A (p.Glu770=) c.2214G>A (p.Glu738=) c.2154G>A (p.Glu718=) c.2058G>A (p.Glu686=)	ClinVar dbSNP gnomAD v4
6	g.43048365T>A	CA364218929	CUL7,KLC4	c.2030A>T (p.Glu677Val) n.2313A>T c.2126A>T (p.Glu709Val) n.2329A>T n.2364A>T c.522A>T c.-553+4857T>A (n.-553+4857T>A) c.2282A>T (p.Glu761Val) c.2186A>T (p.Glu729Val) c.-153A>T (n.-153A>T) c.2309A>T (p.Glu770Val) c.2213A>T (p.Glu738Val) c.2153A>T (p.Glu718Val) c.2057A>T (p.Glu686Val)
6	g.43048365T>C	CA364218932	CUL7,KLC4	c.2030A>G (p.Glu677Gly) n.2313A>G c.2126A>G (p.Glu709Gly) n.2329A>G n.2364A>G c.522A>G c.-553+4857T>C (n.-553+4857T>C) c.2282A>G (p.Glu761Gly) c.2186A>G (p.Glu729Gly) c.-153A>G (n.-153A>G) c.2309A>G (p.Glu770Gly) c.2213A>G (p.Glu738Gly) c.2153A>G (p.Glu718Gly) c.2057A>G (p.Glu686Gly)
6	g.43048365T>G	CA3814014	CUL7,KLC4	c.2030A>C (p.Glu677Ala) n.2313A>C c.2126A>C (p.Glu709Ala) n.2329A>C n.2364A>C c.522A>C c.-553+4857T>G (n.-553+4857T>G) c.2282A>C (p.Glu761Ala) c.2186A>C (p.Glu729Ala) c.-153A>C (n.-153A>C) c.2309A>C (p.Glu770Ala) c.2213A>C (p.Glu738Ala) c.2153A>C (p.Glu718Ala) c.2057A>C (p.Glu686Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048365T=	CA1624357330	CUL7,KLC4	c.2030A= (p.Glu677=) n.2313A= c.2126A= (p.Glu709=) n.2329A= n.2364A= c.522A= c.-553+4857T= (n.-553+4857T=) c.2282A= (p.Glu761=) c.2186A= (p.Glu729=) c.-153A= (n.-153A=) c.2309A= (p.Glu770=) c.2213A= (p.Glu738=) c.2153A= (p.Glu718=) c.2057A= (p.Glu686=)
6	g.43048366C>A	CA364218941	CUL7,KLC4	c.2029G>T (p.Glu677Ter) n.2312G>T c.2125G>T (p.Glu709Ter) n.2328G>T n.2363G>T c.521G>T c.-553+4858C>A (n.-553+4858C>A) c.2281G>T (p.Glu761Ter) c.2185G>T (p.Glu729Ter) c.-154G>T (n.-154G>T) c.2308G>T (p.Glu770Ter) c.2212G>T (p.Glu738Ter) c.2152G>T (p.Glu718Ter) c.2056G>T (p.Glu686Ter)
6	g.43048366C>G	CA364218938	CUL7,KLC4	c.2029G>C (p.Glu677Gln) n.2312G>C c.2125G>C (p.Glu709Gln) n.2328G>C n.2363G>C c.521G>C c.-553+4858C>G (n.-553+4858C>G) c.2281G>C (p.Glu761Gln) c.2185G>C (p.Glu729Gln) c.-154G>C (n.-154G>C) c.2308G>C (p.Glu770Gln) c.2212G>C (p.Glu738Gln) c.2152G>C (p.Glu718Gln) c.2056G>C (p.Glu686Gln)
6	g.43048366C>T	CA364218937	CUL7,KLC4	c.2029G>A (p.Glu677Lys) n.2312G>A c.2125G>A (p.Glu709Lys) n.2328G>A n.2363G>A c.521G>A c.-553+4858C>T (n.-553+4858C>T) c.2281G>A (p.Glu761Lys) c.2185G>A (p.Glu729Lys) c.-154G>A (n.-154G>A) c.2308G>A (p.Glu770Lys) c.2212G>A (p.Glu738Lys) c.2152G>A (p.Glu718Lys) c.2056G>A (p.Glu686Lys)
6	g.43048367C>A	CA450261711	CUL7,KLC4	c.2028G>T (p.Pro676=) n.2311G>T c.2124G>T (p.Pro708=) n.2327G>T n.2362G>T c.520G>T c.-553+4859C>A (n.-553+4859C>A) c.2280G>T (p.Pro760=) c.2184G>T (p.Pro728=) c.-155G>T (n.-155G>T) c.2307G>T (p.Pro769=) c.2211G>T (p.Pro737=) c.2151G>T (p.Pro717=) c.2055G>T (p.Pro685=)
6	g.43048367C=	CA1624357331	CUL7,KLC4	c.2028G= (p.Pro676=) n.2311G= c.2124G= (p.Pro708=) n.2327G= n.2362G= c.520G= c.-553+4859C= (n.-553+4859C=) c.2280G= (p.Pro760=) c.2184G= (p.Pro728=) c.-155G= (n.-155G=) c.2307G= (p.Pro769=) c.2211G= (p.Pro737=) c.2151G= (p.Pro717=) c.2055G= (p.Pro685=)
6	g.43048367C>G	CA450261712	CUL7,KLC4	c.2028G>C (p.Pro676=) n.2311G>C c.2124G>C (p.Pro708=) n.2327G>C n.2362G>C c.520G>C c.-553+4859C>G (n.-553+4859C>G) c.2280G>C (p.Pro760=) c.2184G>C (p.Pro728=) c.-155G>C (n.-155G>C) c.2307G>C (p.Pro769=) c.2211G>C (p.Pro737=) c.2151G>C (p.Pro717=) c.2055G>C (p.Pro685=)
6	g.43048367C>T	CA138249231	CUL7,KLC4	c.2028G>A (p.Pro676=) n.2311G>A c.2124G>A (p.Pro708=) n.2327G>A n.2362G>A c.520G>A c.-553+4859C>T (n.-553+4859C>T) c.2280G>A (p.Pro760=) c.2184G>A (p.Pro728=) c.-155G>A (n.-155G>A) c.2307G>A (p.Pro769=) c.2211G>A (p.Pro737=) c.2151G>A (p.Pro717=) c.2055G>A (p.Pro685=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048368G>A	CA3814015	CUL7,KLC4	c.2027C>T (p.Pro676Leu) n.2310C>T c.2123C>T (p.Pro708Leu) n.2326C>T n.2361C>T c.519C>T c.-553+4860G>A (n.-553+4860G>A) c.2279C>T (p.Pro760Leu) c.2183C>T (p.Pro728Leu) c.-156C>T (n.-156C>T) c.2306C>T (p.Pro769Leu) c.2210C>T (p.Pro737Leu) c.2150C>T (p.Pro717Leu) c.2054C>T (p.Pro685Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048368G>C	CA3814016	CUL7,KLC4	c.2027C>G (p.Pro676Arg) n.2310C>G c.2123C>G (p.Pro708Arg) n.2326C>G n.2361C>G c.519C>G c.-553+4860G>C (n.-553+4860G>C) c.2279C>G (p.Pro760Arg) c.2183C>G (p.Pro728Arg) c.-156C>G (n.-156C>G) c.2306C>G (p.Pro769Arg) c.2210C>G (p.Pro737Arg) c.2150C>G (p.Pro717Arg) c.2054C>G (p.Pro685Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048368G=	CA1624357332	CUL7,KLC4	c.2027C= (p.Pro676=) n.2310C= c.2123C= (p.Pro708=) n.2326C= n.2361C= c.519C= c.-553+4860G= (n.-553+4860G=) c.2279C= (p.Pro760=) c.2183C= (p.Pro728=) c.-156C= (n.-156C=) c.2306C= (p.Pro769=) c.2210C= (p.Pro737=) c.2150C= (p.Pro717=) c.2054C= (p.Pro685=)
6	g.43048368G>T	CA364218948	CUL7,KLC4	c.2027C>A (p.Pro676Gln) n.2310C>A c.2123C>A (p.Pro708Gln) n.2326C>A n.2361C>A c.519C>A c.-553+4860G>T (n.-553+4860G>T) c.2279C>A (p.Pro760Gln) c.2183C>A (p.Pro728Gln) c.-156C>A (n.-156C>A) c.2306C>A (p.Pro769Gln) c.2210C>A (p.Pro737Gln) c.2150C>A (p.Pro717Gln) c.2054C>A (p.Pro685Gln)
6	g.43048369del	CA2678807747	CUL7,KLC4	c.2027del (p.Pro676ArgfsTer9) n.2310del c.2123del (p.Pro708ArgfsTer9) n.2326del n.2361del c.519del c.-553+4861del (n.-553+4861del) c.2279del (p.Pro760ArgfsTer9) c.2183del (p.Pro728ArgfsTer9) c.-156del (n.-156del) c.2306del (p.Pro769ArgfsTer9) c.2210del (p.Pro737ArgfsTer9) c.2150del (p.Pro717ArgfsTer9) c.2054del (p.Pro685ArgfsTer9)	gnomAD v4
6	g.43048369G>A	CA364218951	CUL7,KLC4	c.2026C>T (p.Pro676Ser) n.2309C>T c.2122C>T (p.Pro708Ser) n.2325C>T n.2360C>T c.518C>T c.-553+4861G>A (n.-553+4861G>A) c.2278C>T (p.Pro760Ser) c.2182C>T (p.Pro728Ser) c.-157C>T (n.-157C>T) c.2305C>T (p.Pro769Ser) c.2209C>T (p.Pro737Ser) c.2149C>T (p.Pro717Ser) c.2053C>T (p.Pro685Ser)
6	g.43048369G>C	CA364218953	CUL7,KLC4	c.2026C>G (p.Pro676Ala) n.2309C>G c.2122C>G (p.Pro708Ala) n.2325C>G n.2360C>G c.518C>G c.-553+4861G>C (n.-553+4861G>C) c.2278C>G (p.Pro760Ala) c.2182C>G (p.Pro728Ala) c.-157C>G (n.-157C>G) c.2305C>G (p.Pro769Ala) c.2209C>G (p.Pro737Ala) c.2149C>G (p.Pro717Ala) c.2053C>G (p.Pro685Ala)	gnomAD v4
6	g.43048369G>T	CA364218955	CUL7,KLC4	c.2026C>A (p.Pro676Thr) n.2309C>A c.2122C>A (p.Pro708Thr) n.2325C>A n.2360C>A c.518C>A c.-553+4861G>T (n.-553+4861G>T) c.2278C>A (p.Pro760Thr) c.2182C>A (p.Pro728Thr) c.-157C>A (n.-157C>A) c.2305C>A (p.Pro769Thr) c.2209C>A (p.Pro737Thr) c.2149C>A (p.Pro717Thr) c.2053C>A (p.Pro685Thr)
6	g.43048370A>C	CA450261715	CUL7,KLC4	c.2025T>G (p.Thr675=) n.2308T>G c.2121T>G (p.Thr707=) n.2324T>G n.2359T>G c.517T>G c.-553+4862A>C (n.-553+4862A>C) c.2277T>G (p.Thr759=) c.2181T>G (p.Thr727=) c.-158T>G (n.-158T>G) c.2304T>G (p.Thr768=) c.2208T>G (p.Thr736=) c.2148T>G (p.Thr716=) c.2052T>G (p.Thr684=)
6	g.43048370A>G	CA450261716	CUL7,KLC4	c.2025T>C (p.Thr675=) n.2308T>C c.2121T>C (p.Thr707=) n.2324T>C n.2359T>C c.517T>C c.-553+4862A>G (n.-553+4862A>G) c.2277T>C (p.Thr759=) c.2181T>C (p.Thr727=) c.-158T>C (n.-158T>C) c.2304T>C (p.Thr768=) c.2208T>C (p.Thr736=) c.2148T>C (p.Thr716=) c.2052T>C (p.Thr684=)
6	g.43048370A>T	CA450261717	CUL7,KLC4	c.2025T>A (p.Thr675=) n.2308T>A c.2121T>A (p.Thr707=) n.2324T>A n.2359T>A c.517T>A c.-553+4862A>T (n.-553+4862A>T) c.2277T>A (p.Thr759=) c.2181T>A (p.Thr727=) c.-158T>A (n.-158T>A) c.2304T>A (p.Thr768=) c.2208T>A (p.Thr736=) c.2148T>A (p.Thr716=) c.2052T>A (p.Thr684=)
6	g.43048371G>A	CA3814017	CUL7,KLC4	c.2024C>T (p.Thr675Ile) n.2307C>T c.2120C>T (p.Thr707Ile) n.2323C>T n.2358C>T c.516C>T c.-553+4863G>A (n.-553+4863G>A) c.2276C>T (p.Thr759Ile) c.2180C>T (p.Thr727Ile) c.-159C>T (n.-159C>T) c.2303C>T (p.Thr768Ile) c.2207C>T (p.Thr736Ile) c.2147C>T (p.Thr716Ile) c.2051C>T (p.Thr684Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048371G>C	CA364218959	CUL7,KLC4	c.2024C>G (p.Thr675Ser) n.2307C>G c.2120C>G (p.Thr707Ser) n.2323C>G n.2358C>G c.516C>G c.-553+4863G>C (n.-553+4863G>C) c.2276C>G (p.Thr759Ser) c.2180C>G (p.Thr727Ser) c.-159C>G (n.-159C>G) c.2303C>G (p.Thr768Ser) c.2207C>G (p.Thr736Ser) c.2147C>G (p.Thr716Ser) c.2051C>G (p.Thr684Ser)
6	g.43048371G=	CA1624357333	CUL7,KLC4	c.2024C= (p.Thr675=) n.2307C= c.2120C= (p.Thr707=) n.2323C= n.2358C= c.516C= c.-553+4863G= (n.-553+4863G=) c.2276C= (p.Thr759=) c.2180C= (p.Thr727=) c.-159C= (n.-159C=) c.2303C= (p.Thr768=) c.2207C= (p.Thr736=) c.2147C= (p.Thr716=) c.2051C= (p.Thr684=)
6	g.43048371G>T	CA364218962	CUL7,KLC4	c.2024C>A (p.Thr675Asn) n.2307C>A c.2120C>A (p.Thr707Asn) n.2323C>A n.2358C>A c.516C>A c.-553+4863G>T (n.-553+4863G>T) c.2276C>A (p.Thr759Asn) c.2180C>A (p.Thr727Asn) c.-159C>A (n.-159C>A) c.2303C>A (p.Thr768Asn) c.2207C>A (p.Thr736Asn) c.2147C>A (p.Thr716Asn) c.2051C>A (p.Thr684Asn)
6	g.43048372T>A	CA364218965	CUL7,KLC4	c.2023A>T (p.Thr675Ser) n.2306A>T c.2119A>T (p.Thr707Ser) n.2322A>T n.2357A>T c.515A>T c.-553+4864T>A (n.-553+4864T>A) c.2275A>T (p.Thr759Ser) c.2179A>T (p.Thr727Ser) c.-160A>T (n.-160A>T) c.2302A>T (p.Thr768Ser) c.2206A>T (p.Thr736Ser) c.2146A>T (p.Thr716Ser) c.2050A>T (p.Thr684Ser)
6	g.43048372T>C	CA364218968	CUL7,KLC4	c.2023A>G (p.Thr675Ala) n.2306A>G c.2119A>G (p.Thr707Ala) n.2322A>G n.2357A>G c.515A>G c.-553+4864T>C (n.-553+4864T>C) c.2275A>G (p.Thr759Ala) c.2179A>G (p.Thr727Ala) c.-160A>G (n.-160A>G) c.2302A>G (p.Thr768Ala) c.2206A>G (p.Thr736Ala) c.2146A>G (p.Thr716Ala) c.2050A>G (p.Thr684Ala)	dbSNP gnomAD v4
6	g.43048372T>G	CA364218971	CUL7,KLC4	c.2023A>C (p.Thr675Pro) n.2306A>C c.2119A>C (p.Thr707Pro) n.2322A>C n.2357A>C c.515A>C c.-553+4864T>G (n.-553+4864T>G) c.2275A>C (p.Thr759Pro) c.2179A>C (p.Thr727Pro) c.-160A>C (n.-160A>C) c.2302A>C (p.Thr768Pro) c.2206A>C (p.Thr736Pro) c.2146A>C (p.Thr716Pro) c.2050A>C (p.Thr684Pro)
6	g.43048372T=	CA1624357334	CUL7,KLC4	c.2023A= (p.Thr675=) n.2306A= c.2119A= (p.Thr707=) n.2322A= n.2357A= c.515A= c.-553+4864T= (n.-553+4864T=) c.2275A= (p.Thr759=) c.2179A= (p.Thr727=) c.-160A= (n.-160A=) c.2302A= (p.Thr768=) c.2206A= (p.Thr736=) c.2146A= (p.Thr716=) c.2050A= (p.Thr684=)
6	g.43048373G>A	CA450261722	CUL7,KLC4	c.2022C>T (p.Asp674=) n.2305C>T c.2118C>T (p.Asp706=) n.2321C>T n.2356C>T c.514C>T c.-553+4865G>A (n.-553+4865G>A) c.2274C>T (p.Asp758=) c.2178C>T (p.Asp726=) c.-161C>T (n.-161C>T) c.2301C>T (p.Asp767=) c.2205C>T (p.Asp735=) c.2145C>T (p.Asp715=) c.2049C>T (p.Asp683=)
6	g.43048373G>C	CA364218974	CUL7,KLC4	c.2022C>G (p.Asp674Glu) n.2305C>G c.2118C>G (p.Asp706Glu) n.2321C>G n.2356C>G c.514C>G c.-553+4865G>C (n.-553+4865G>C) c.2274C>G (p.Asp758Glu) c.2178C>G (p.Asp726Glu) c.-161C>G (n.-161C>G) c.2301C>G (p.Asp767Glu) c.2205C>G (p.Asp735Glu) c.2145C>G (p.Asp715Glu) c.2049C>G (p.Asp683Glu)
6	g.43048373G>T	CA364218976	CUL7,KLC4	c.2022C>A (p.Asp674Glu) n.2305C>A c.2118C>A (p.Asp706Glu) n.2321C>A n.2356C>A c.514C>A c.-553+4865G>T (n.-553+4865G>T) c.2274C>A (p.Asp758Glu) c.2178C>A (p.Asp726Glu) c.-161C>A (n.-161C>A) c.2301C>A (p.Asp767Glu) c.2205C>A (p.Asp735Glu) c.2145C>A (p.Asp715Glu) c.2049C>A (p.Asp683Glu)	gnomAD v4
6	g.43048374T>A	CA364218978	CUL7,KLC4	c.2021A>T (p.Asp674Val) n.2304A>T c.2117A>T (p.Asp706Val) n.2320A>T n.2355A>T c.513A>T c.-553+4866T>A (n.-553+4866T>A) c.2273A>T (p.Asp758Val) c.2177A>T (p.Asp726Val) c.-162A>T (n.-162A>T) c.2300A>T (p.Asp767Val) c.2204A>T (p.Asp735Val) c.2144A>T (p.Asp715Val) c.2048A>T (p.Asp683Val)
6	g.43048374T>C	CA138249239	CUL7,KLC4	c.2021A>G (p.Asp674Gly) n.2304A>G c.2117A>G (p.Asp706Gly) n.2320A>G n.2355A>G c.513A>G c.-553+4866T>C (n.-553+4866T>C) c.2273A>G (p.Asp758Gly) c.2177A>G (p.Asp726Gly) c.-162A>G (n.-162A>G) c.2300A>G (p.Asp767Gly) c.2204A>G (p.Asp735Gly) c.2144A>G (p.Asp715Gly) c.2048A>G (p.Asp683Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048374T>G	CA364218981	CUL7,KLC4	c.2021A>C (p.Asp674Ala) n.2304A>C c.2117A>C (p.Asp706Ala) n.2320A>C n.2355A>C c.513A>C c.-553+4866T>G (n.-553+4866T>G) c.2273A>C (p.Asp758Ala) c.2177A>C (p.Asp726Ala) c.-162A>C (n.-162A>C) c.2300A>C (p.Asp767Ala) c.2204A>C (p.Asp735Ala) c.2144A>C (p.Asp715Ala) c.2048A>C (p.Asp683Ala)
6	g.43048374T=	CA1624357335	CUL7,KLC4	c.2021A= (p.Asp674=) n.2304A= c.2117A= (p.Asp706=) n.2320A= n.2355A= c.513A= c.-553+4866T= (n.-553+4866T=) c.2273A= (p.Asp758=) c.2177A= (p.Asp726=) c.-162A= (n.-162A=) c.2300A= (p.Asp767=) c.2204A= (p.Asp735=) c.2144A= (p.Asp715=) c.2048A= (p.Asp683=)
6	g.43048375C>A	CA364218987	CUL7,KLC4	c.2020G>T (p.Asp674Tyr) n.2303G>T c.2116G>T (p.Asp706Tyr) n.2319G>T n.2354G>T c.512G>T c.-553+4867C>A (n.-553+4867C>A) c.2272G>T (p.Asp758Tyr) c.2176G>T (p.Asp726Tyr) c.-163G>T (n.-163G>T) c.2299G>T (p.Asp767Tyr) c.2203G>T (p.Asp735Tyr) c.2143G>T (p.Asp715Tyr) c.2047G>T (p.Asp683Tyr)
6	g.43048375C>G	CA364218988	CUL7,KLC4	c.2020G>C (p.Asp674His) n.2303G>C c.2116G>C (p.Asp706His) n.2319G>C n.2354G>C c.512G>C c.-553+4867C>G (n.-553+4867C>G) c.2272G>C (p.Asp758His) c.2176G>C (p.Asp726His) c.-163G>C (n.-163G>C) c.2299G>C (p.Asp767His) c.2203G>C (p.Asp735His) c.2143G>C (p.Asp715His) c.2047G>C (p.Asp683His)
6	g.43048375C>T	CA364218990	CUL7,KLC4	c.2020G>A (p.Asp674Asn) n.2303G>A c.2116G>A (p.Asp706Asn) n.2319G>A n.2354G>A c.512G>A c.-553+4867C>T (n.-553+4867C>T) c.2272G>A (p.Asp758Asn) c.2176G>A (p.Asp726Asn) c.-163G>A (n.-163G>A) c.2299G>A (p.Asp767Asn) c.2203G>A (p.Asp735Asn) c.2143G>A (p.Asp715Asn) c.2047G>A (p.Asp683Asn)	gnomAD v4
6	g.43048376C>A	CA450261731	CUL7,KLC4	c.2019G>T (p.Leu673=) n.2302G>T c.2115G>T (p.Leu705=) n.2318G>T n.2353G>T c.511G>T c.-553+4868C>A (n.-553+4868C>A) c.2271G>T (p.Leu757=) c.2175G>T (p.Leu725=) c.-164G>T (n.-164G>T) c.2298G>T (p.Leu766=) c.2202G>T (p.Leu734=) c.2142G>T (p.Leu714=) c.2046G>T (p.Leu682=)
6	g.43048376C>G	CA450261730	CUL7,KLC4	c.2019G>C (p.Leu673=) n.2302G>C c.2115G>C (p.Leu705=) n.2318G>C n.2353G>C c.511G>C c.-553+4868C>G (n.-553+4868C>G) c.2271G>C (p.Leu757=) c.2175G>C (p.Leu725=) c.-164G>C (n.-164G>C) c.2298G>C (p.Leu766=) c.2202G>C (p.Leu734=) c.2142G>C (p.Leu714=) c.2046G>C (p.Leu682=)
6	g.43048376C>T	CA450261728	CUL7,KLC4	c.2019G>A (p.Leu673=) n.2302G>A c.2115G>A (p.Leu705=) n.2318G>A n.2353G>A c.511G>A c.-553+4868C>T (n.-553+4868C>T) c.2271G>A (p.Leu757=) c.2175G>A (p.Leu725=) c.-164G>A (n.-164G>A) c.2298G>A (p.Leu766=) c.2202G>A (p.Leu734=) c.2142G>A (p.Leu714=) c.2046G>A (p.Leu682=)	gnomAD v4
6	g.43048377A=	CA1624357336	CUL7,KLC4	c.2018T= (p.Leu673=) n.2301T= c.2114T= (p.Leu705=) n.2317T= n.2352T= c.510T= c.-553+4869A= (n.-553+4869A=) c.2270T= (p.Leu757=) c.2174T= (p.Leu725=) c.-165T= (n.-165T=) c.2297T= (p.Leu766=) c.2201T= (p.Leu734=) c.2141T= (p.Leu714=) c.2045T= (p.Leu682=)
6	g.43048377A>C	CA364218993	CUL7,KLC4	c.2018T>G (p.Leu673Arg) n.2301T>G c.2114T>G (p.Leu705Arg) n.2317T>G n.2352T>G c.510T>G c.-553+4869A>C (n.-553+4869A>C) c.2270T>G (p.Leu757Arg) c.2174T>G (p.Leu725Arg) c.-165T>G (n.-165T>G) c.2297T>G (p.Leu766Arg) c.2201T>G (p.Leu734Arg) c.2141T>G (p.Leu714Arg) c.2045T>G (p.Leu682Arg)
6	g.43048377A>G	CA3814018	CUL7,KLC4	c.2018T>C (p.Leu673Pro) n.2301T>C c.2114T>C (p.Leu705Pro) n.2317T>C n.2352T>C c.510T>C c.-553+4869A>G (n.-553+4869A>G) c.2270T>C (p.Leu757Pro) c.2174T>C (p.Leu725Pro) c.-165T>C (n.-165T>C) c.2297T>C (p.Leu766Pro) c.2201T>C (p.Leu734Pro) c.2141T>C (p.Leu714Pro) c.2045T>C (p.Leu682Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048377A>T	CA364218998	CUL7,KLC4	c.2018T>A (p.Leu673Gln) n.2301T>A c.2114T>A (p.Leu705Gln) n.2317T>A n.2352T>A c.510T>A c.-553+4869A>T (n.-553+4869A>T) c.2270T>A (p.Leu757Gln) c.2174T>A (p.Leu725Gln) c.-165T>A (n.-165T>A) c.2297T>A (p.Leu766Gln) c.2201T>A (p.Leu734Gln) c.2141T>A (p.Leu714Gln) c.2045T>A (p.Leu682Gln)
6	g.43048378G>A	CA450261732	CUL7,KLC4	c.2017C>T (p.Leu673=) n.2300C>T c.2113C>T (p.Leu705=) n.2316C>T n.2351C>T c.509C>T c.-553+4870G>A (n.-553+4870G>A) c.2269C>T (p.Leu757=) c.2173C>T (p.Leu725=) c.-166C>T (n.-166C>T) c.2296C>T (p.Leu766=) c.2200C>T (p.Leu734=) c.2140C>T (p.Leu714=) c.2044C>T (p.Leu682=)
6	g.43048378G>C	CA138249244	CUL7,KLC4	c.2017C>G (p.Leu673Val) n.2300C>G c.2113C>G (p.Leu705Val) n.2316C>G n.2351C>G c.509C>G c.-553+4870G>C (n.-553+4870G>C) c.2269C>G (p.Leu757Val) c.2173C>G (p.Leu725Val) c.-166C>G (n.-166C>G) c.2296C>G (p.Leu766Val) c.2200C>G (p.Leu734Val) c.2140C>G (p.Leu714Val) c.2044C>G (p.Leu682Val)	dbSNP gnomAD v3 gnomAD v4
6	g.43048378G=	CA1624357337	CUL7,KLC4	c.2017C= (p.Leu673=) n.2300C= c.2113C= (p.Leu705=) n.2316C= n.2351C= c.509C= c.-553+4870G= (n.-553+4870G=) c.2269C= (p.Leu757=) c.2173C= (p.Leu725=) c.-166C= (n.-166C=) c.2296C= (p.Leu766=) c.2200C= (p.Leu734=) c.2140C= (p.Leu714=) c.2044C= (p.Leu682=)
6	g.43048378G>T	CA364219000	CUL7,KLC4	c.2017C>A (p.Leu673Met) n.2300C>A c.2113C>A (p.Leu705Met) n.2316C>A n.2351C>A c.509C>A c.-553+4870G>T (n.-553+4870G>T) c.2269C>A (p.Leu757Met) c.2173C>A (p.Leu725Met) c.-166C>A (n.-166C>A) c.2296C>A (p.Leu766Met) c.2200C>A (p.Leu734Met) c.2140C>A (p.Leu714Met) c.2044C>A (p.Leu682Met)
6	g.43048379G>A	CA450261735	CUL7,KLC4	c.2016C>T (p.Ser672=) n.2299C>T c.2112C>T (p.Ser704=) n.2315C>T n.2350C>T c.508C>T c.-553+4871G>A (n.-553+4871G>A) c.2268C>T (p.Ser756=) c.2172C>T (p.Ser724=) c.-167C>T (n.-167C>T) c.2295C>T (p.Ser765=) c.2199C>T (p.Ser733=) c.2139C>T (p.Ser713=) c.2043C>T (p.Ser681=)
6	g.43048379G>C	CA364219002	CUL7,KLC4	c.2016C>G (p.Ser672Arg) n.2299C>G c.2112C>G (p.Ser704Arg) n.2315C>G n.2350C>G c.508C>G c.-553+4871G>C (n.-553+4871G>C) c.2268C>G (p.Ser756Arg) c.2172C>G (p.Ser724Arg) c.-167C>G (n.-167C>G) c.2295C>G (p.Ser765Arg) c.2199C>G (p.Ser733Arg) c.2139C>G (p.Ser713Arg) c.2043C>G (p.Ser681Arg)
6	g.43048379G>T	CA364219004	CUL7,KLC4	c.2016C>A (p.Ser672Arg) n.2299C>A c.2112C>A (p.Ser704Arg) n.2315C>A n.2350C>A c.508C>A c.-553+4871G>T (n.-553+4871G>T) c.2268C>A (p.Ser756Arg) c.2172C>A (p.Ser724Arg) c.-167C>A (n.-167C>A) c.2295C>A (p.Ser765Arg) c.2199C>A (p.Ser733Arg) c.2139C>A (p.Ser713Arg) c.2043C>A (p.Ser681Arg)
6	g.43048380C>A	CA364219010	CUL7,KLC4	c.2015G>T (p.Ser672Ile) n.2298G>T c.2111G>T (p.Ser704Ile) n.2314G>T n.2349G>T c.507G>T c.-553+4872C>A (n.-553+4872C>A) c.2267G>T (p.Ser756Ile) c.2171G>T (p.Ser724Ile) c.-168G>T (n.-168G>T) c.2294G>T (p.Ser765Ile) c.2198G>T (p.Ser733Ile) c.2138G>T (p.Ser713Ile) c.2042G>T (p.Ser681Ile)
6	g.43048380C=	CA1624357338	CUL7,KLC4	c.2015G= (p.Ser672=) n.2298G= c.2111G= (p.Ser704=) n.2314G= n.2349G= c.507G= c.-553+4872C= (n.-553+4872C=) c.2267G= (p.Ser756=) c.2171G= (p.Ser724=) c.-168G= (n.-168G=) c.2294G= (p.Ser765=) c.2198G= (p.Ser733=) c.2138G= (p.Ser713=) c.2042G= (p.Ser681=)
6	g.43048380C>G	CA3814019	CUL7,KLC4	c.2015G>C (p.Ser672Thr) n.2298G>C c.2111G>C (p.Ser704Thr) n.2314G>C n.2349G>C c.507G>C c.-553+4872C>G (n.-553+4872C>G) c.2267G>C (p.Ser756Thr) c.2171G>C (p.Ser724Thr) c.-168G>C (n.-168G>C) c.2294G>C (p.Ser765Thr) c.2198G>C (p.Ser733Thr) c.2138G>C (p.Ser713Thr) c.2042G>C (p.Ser681Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048380C>T	CA364219005	CUL7,KLC4	c.2015G>A (p.Ser672Asn) n.2298G>A c.2111G>A (p.Ser704Asn) n.2314G>A n.2349G>A c.507G>A c.-553+4872C>T (n.-553+4872C>T) c.2267G>A (p.Ser756Asn) c.2171G>A (p.Ser724Asn) c.-168G>A (n.-168G>A) c.2294G>A (p.Ser765Asn) c.2198G>A (p.Ser733Asn) c.2138G>A (p.Ser713Asn) c.2042G>A (p.Ser681Asn)
6	g.43048381T>A	CA3814020	CUL7,KLC4	c.2014A>T (p.Ser672Cys) n.2297A>T c.2110A>T (p.Ser704Cys) n.2313A>T n.2348A>T c.506A>T c.-553+4873T>A (n.-553+4873T>A) c.2266A>T (p.Ser756Cys) c.2170A>T (p.Ser724Cys) c.-169A>T (n.-169A>T) c.2293A>T (p.Ser765Cys) c.2197A>T (p.Ser733Cys) c.2137A>T (p.Ser713Cys) c.2041A>T (p.Ser681Cys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048381T>C	CA364219011	CUL7,KLC4	c.2014A>G (p.Ser672Gly) n.2297A>G c.2110A>G (p.Ser704Gly) n.2313A>G n.2348A>G c.506A>G c.-553+4873T>C (n.-553+4873T>C) c.2266A>G (p.Ser756Gly) c.2170A>G (p.Ser724Gly) c.-169A>G (n.-169A>G) c.2293A>G (p.Ser765Gly) c.2197A>G (p.Ser733Gly) c.2137A>G (p.Ser713Gly) c.2041A>G (p.Ser681Gly)	dbSNP gnomAD v2 gnomAD v4
6	g.43048381T>G	CA364219012	CUL7,KLC4	c.2014A>C (p.Ser672Arg) n.2297A>C c.2110A>C (p.Ser704Arg) n.2313A>C n.2348A>C c.506A>C c.-553+4873T>G (n.-553+4873T>G) c.2266A>C (p.Ser756Arg) c.2170A>C (p.Ser724Arg) c.-169A>C (n.-169A>C) c.2293A>C (p.Ser765Arg) c.2197A>C (p.Ser733Arg) c.2137A>C (p.Ser713Arg) c.2041A>C (p.Ser681Arg)
6	g.43048381T=	CA1624357339	CUL7,KLC4	c.2014A= (p.Ser672=) n.2297A= c.2110A= (p.Ser704=) n.2313A= n.2348A= c.506A= c.-553+4873T= (n.-553+4873T=) c.2266A= (p.Ser756=) c.2170A= (p.Ser724=) c.-169A= (n.-169A=) c.2293A= (p.Ser765=) c.2197A= (p.Ser733=) c.2137A= (p.Ser713=) c.2041A= (p.Ser681=)
6	g.43048382C>A	CA364219013	CUL7,KLC4	c.2013G>T (p.Gln671His) n.2296G>T c.2109G>T (p.Gln703His) n.2312G>T n.2347G>T c.505G>T c.-553+4874C>A (n.-553+4874C>A) c.2265G>T (p.Gln755His) c.2169G>T (p.Gln723His) c.-170G>T (n.-170G>T) c.2292G>T (p.Gln764His) c.2196G>T (p.Gln732His) c.2136G>T (p.Gln712His) c.2040G>T (p.Gln680His)
6	g.43048382C>G	CA364219014	CUL7,KLC4	c.2013G>C (p.Gln671His) n.2296G>C c.2109G>C (p.Gln703His) n.2312G>C n.2347G>C c.505G>C c.-553+4874C>G (n.-553+4874C>G) c.2265G>C (p.Gln755His) c.2169G>C (p.Gln723His) c.-170G>C (n.-170G>C) c.2292G>C (p.Gln764His) c.2196G>C (p.Gln732His) c.2136G>C (p.Gln712His) c.2040G>C (p.Gln680His)
6	g.43048382C>T	CA450261740	CUL7,KLC4	c.2013G>A (p.Gln671=) n.2296G>A c.2109G>A (p.Gln703=) n.2312G>A n.2347G>A c.505G>A c.-553+4874C>T (n.-553+4874C>T) c.2265G>A (p.Gln755=) c.2169G>A (p.Gln723=) c.-170G>A (n.-170G>A) c.2292G>A (p.Gln764=) c.2196G>A (p.Gln732=) c.2136G>A (p.Gln712=) c.2040G>A (p.Gln680=)
6	g.43048383T>A	CA364219015	CUL7,KLC4	c.2012A>T (p.Gln671Leu) n.2295A>T c.2108A>T (p.Gln703Leu) n.2311A>T n.2346A>T c.504A>T c.-553+4875T>A (n.-553+4875T>A) c.2264A>T (p.Gln755Leu) c.2168A>T (p.Gln723Leu) c.-171A>T (n.-171A>T) c.2291A>T (p.Gln764Leu) c.2195A>T (p.Gln732Leu) c.2135A>T (p.Gln712Leu) c.2039A>T (p.Gln680Leu)
6	g.43048383T>C	CA3814021	CUL7,KLC4	c.2012A>G (p.Gln671Arg) n.2295A>G c.2108A>G (p.Gln703Arg) n.2311A>G n.2346A>G c.504A>G c.-553+4875T>C (n.-553+4875T>C) c.2264A>G (p.Gln755Arg) c.2168A>G (p.Gln723Arg) c.-171A>G (n.-171A>G) c.2291A>G (p.Gln764Arg) c.2195A>G (p.Gln732Arg) c.2135A>G (p.Gln712Arg) c.2039A>G (p.Gln680Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048383T>G	CA364219016	CUL7,KLC4	c.2012A>C (p.Gln671Pro) n.2295A>C c.2108A>C (p.Gln703Pro) n.2311A>C n.2346A>C c.504A>C c.-553+4875T>G (n.-553+4875T>G) c.2264A>C (p.Gln755Pro) c.2168A>C (p.Gln723Pro) c.-171A>C (n.-171A>C) c.2291A>C (p.Gln764Pro) c.2195A>C (p.Gln732Pro) c.2135A>C (p.Gln712Pro) c.2039A>C (p.Gln680Pro)
6	g.43048383T=	CA1624357340	CUL7,KLC4	c.2012A= (p.Gln671=) n.2295A= c.2108A= (p.Gln703=) n.2311A= n.2346A= c.504A= c.-553+4875T= (n.-553+4875T=) c.2264A= (p.Gln755=) c.2168A= (p.Gln723=) c.-171A= (n.-171A=) c.2291A= (p.Gln764=) c.2195A= (p.Gln732=) c.2135A= (p.Gln712=) c.2039A= (p.Gln680=)
6	g.43048384G>A	CA364219018	CUL7,KLC4	c.2011C>T (p.Gln671Ter) n.2294C>T c.2107C>T (p.Gln703Ter) n.2310C>T n.2345C>T c.503C>T c.-553+4876G>A (n.-553+4876G>A) c.2263C>T (p.Gln755Ter) c.2167C>T (p.Gln723Ter) c.-172C>T (n.-172C>T) c.2290C>T (p.Gln764Ter) c.2194C>T (p.Gln732Ter) c.2134C>T (p.Gln712Ter) c.2038C>T (p.Gln680Ter)
6	g.43048384G>C	CA364219019	CUL7,KLC4	c.2011C>G (p.Gln671Glu) n.2294C>G c.2107C>G (p.Gln703Glu) n.2310C>G n.2345C>G c.503C>G c.-553+4876G>C (n.-553+4876G>C) c.2263C>G (p.Gln755Glu) c.2167C>G (p.Gln723Glu) c.-172C>G (n.-172C>G) c.2290C>G (p.Gln764Glu) c.2194C>G (p.Gln732Glu) c.2134C>G (p.Gln712Glu) c.2038C>G (p.Gln680Glu)	gnomAD v4
6	g.43048384G>T	CA364219021	CUL7,KLC4	c.2011C>A (p.Gln671Lys) n.2294C>A c.2107C>A (p.Gln703Lys) n.2310C>A n.2345C>A c.503C>A c.-553+4876G>T (n.-553+4876G>T) c.2263C>A (p.Gln755Lys) c.2167C>A (p.Gln723Lys) c.-172C>A (n.-172C>A) c.2290C>A (p.Gln764Lys) c.2194C>A (p.Gln732Lys) c.2134C>A (p.Gln712Lys) c.2038C>A (p.Gln680Lys)
6	g.43048385C>A	CA364219022	CUL7,KLC4	c.2010G>T (p.Met670Ile) n.2293G>T c.2106G>T (p.Met702Ile) n.2309G>T n.2344G>T c.502G>T c.-553+4877C>A (n.-553+4877C>A) c.2262G>T (p.Met754Ile) c.2166G>T (p.Met722Ile) c.-173G>T (n.-173G>T) c.2289G>T (p.Met763Ile) c.2193G>T (p.Met731Ile) c.2133G>T (p.Met711Ile) c.2037G>T (p.Met679Ile)
6	g.43048385C>G	CA364219023	CUL7,KLC4	c.2010G>C (p.Met670Ile) n.2293G>C c.2106G>C (p.Met702Ile) n.2309G>C n.2344G>C c.502G>C c.-553+4877C>G (n.-553+4877C>G) c.2262G>C (p.Met754Ile) c.2166G>C (p.Met722Ile) c.-173G>C (n.-173G>C) c.2289G>C (p.Met763Ile) c.2193G>C (p.Met731Ile) c.2133G>C (p.Met711Ile) c.2037G>C (p.Met679Ile)
6	g.43048385C>T	CA364219025	CUL7,KLC4	c.2010G>A (p.Met670Ile) n.2293G>A c.2106G>A (p.Met702Ile) n.2309G>A n.2344G>A c.502G>A c.-553+4877C>T (n.-553+4877C>T) c.2262G>A (p.Met754Ile) c.2166G>A (p.Met722Ile) c.-173G>A (n.-173G>A) c.2289G>A (p.Met763Ile) c.2193G>A (p.Met731Ile) c.2133G>A (p.Met711Ile) c.2037G>A (p.Met679Ile)
6	g.43048386A=	CA1624357341	CUL7,KLC4	c.2009T= (p.Met670=) n.2292T= c.2105T= (p.Met702=) n.2308T= n.2343T= c.501T= c.-553+4878A= (n.-553+4878A=) c.2261T= (p.Met754=) c.2165T= (p.Met722=) c.-174T= (n.-174T=) c.2288T= (p.Met763=) c.2192T= (p.Met731=) c.2132T= (p.Met711=) c.2036T= (p.Met679=)
6	g.43048386A>C	CA364219032	CUL7,KLC4	c.2009T>G (p.Met670Arg) n.2292T>G c.2105T>G (p.Met702Arg) n.2308T>G n.2343T>G c.501T>G c.-553+4878A>C (n.-553+4878A>C) c.2261T>G (p.Met754Arg) c.2165T>G (p.Met722Arg) c.-174T>G (n.-174T>G) c.2288T>G (p.Met763Arg) c.2192T>G (p.Met731Arg) c.2132T>G (p.Met711Arg) c.2036T>G (p.Met679Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048386A>G	CA364219038	CUL7,KLC4	c.2009T>C (p.Met670Thr) n.2292T>C c.2105T>C (p.Met702Thr) n.2308T>C n.2343T>C c.501T>C c.-553+4878A>G (n.-553+4878A>G) c.2261T>C (p.Met754Thr) c.2165T>C (p.Met722Thr) c.-174T>C (n.-174T>C) c.2288T>C (p.Met763Thr) c.2192T>C (p.Met731Thr) c.2132T>C (p.Met711Thr) c.2036T>C (p.Met679Thr)
6	g.43048386A>T	CA364219031	CUL7,KLC4	c.2009T>A (p.Met670Lys) n.2292T>A c.2105T>A (p.Met702Lys) n.2308T>A n.2343T>A c.501T>A c.-553+4878A>T (n.-553+4878A>T) c.2261T>A (p.Met754Lys) c.2165T>A (p.Met722Lys) c.-174T>A (n.-174T>A) c.2288T>A (p.Met763Lys) c.2192T>A (p.Met731Lys) c.2132T>A (p.Met711Lys) c.2036T>A (p.Met679Lys)
6	g.43048387T>A	CA364219040	CUL7,KLC4	c.2008A>T (p.Met670Leu) n.2291A>T c.2104A>T (p.Met702Leu) n.2307A>T n.2342A>T c.500A>T c.-553+4879T>A (n.-553+4879T>A) c.2260A>T (p.Met754Leu) c.2164A>T (p.Met722Leu) c.-175A>T (n.-175A>T) c.2287A>T (p.Met763Leu) c.2191A>T (p.Met731Leu) c.2131A>T (p.Met711Leu) c.2035A>T (p.Met679Leu)
6	g.43048387T>C	CA364219042	CUL7,KLC4	c.2008A>G (p.Met670Val) n.2291A>G c.2104A>G (p.Met702Val) n.2307A>G n.2342A>G c.500A>G c.-553+4879T>C (n.-553+4879T>C) c.2260A>G (p.Met754Val) c.2164A>G (p.Met722Val) c.-175A>G (n.-175A>G) c.2287A>G (p.Met763Val) c.2191A>G (p.Met731Val) c.2131A>G (p.Met711Val) c.2035A>G (p.Met679Val)
6	g.43048387T>G	CA364219043	CUL7,KLC4	c.2008A>C (p.Met670Leu) n.2291A>C c.2104A>C (p.Met702Leu) n.2307A>C n.2342A>C c.500A>C c.-553+4879T>G (n.-553+4879T>G) c.2260A>C (p.Met754Leu) c.2164A>C (p.Met722Leu) c.-175A>C (n.-175A>C) c.2287A>C (p.Met763Leu) c.2191A>C (p.Met731Leu) c.2131A>C (p.Met711Leu) c.2035A>C (p.Met679Leu)
6	g.43048388C>A	CA450261743	CUL7,KLC4	c.2007G>T (p.Leu669=) n.2290G>T c.2103G>T (p.Leu701=) n.2306G>T n.2341G>T c.499G>T c.-553+4880C>A (n.-553+4880C>A) c.2259G>T (p.Leu753=) c.2163G>T (p.Leu721=) c.-176G>T (n.-176G>T) c.2286G>T (p.Leu762=) c.2190G>T (p.Leu730=) c.2130G>T (p.Leu710=) c.2034G>T (p.Leu678=)
6	g.43048388C=	CA1624357342	CUL7,KLC4	c.2007G= (p.Leu669=) n.2290G= c.2103G= (p.Leu701=) n.2306G= n.2341G= c.499G= c.-553+4880C= (n.-553+4880C=) c.2259G= (p.Leu753=) c.2163G= (p.Leu721=) c.-176G= (n.-176G=) c.2286G= (p.Leu762=) c.2190G= (p.Leu730=) c.2130G= (p.Leu710=) c.2034G= (p.Leu678=)
6	g.43048388C>G	CA450261744	CUL7,KLC4	c.2007G>C (p.Leu669=) n.2290G>C c.2103G>C (p.Leu701=) n.2306G>C n.2341G>C c.499G>C c.-553+4880C>G (n.-553+4880C>G) c.2259G>C (p.Leu753=) c.2163G>C (p.Leu721=) c.-176G>C (n.-176G>C) c.2286G>C (p.Leu762=) c.2190G>C (p.Leu730=) c.2130G>C (p.Leu710=) c.2034G>C (p.Leu678=)
6	g.43048388C>T	CA450261745	CUL7,KLC4	c.2007G>A (p.Leu669=) n.2290G>A c.2103G>A (p.Leu701=) n.2306G>A n.2341G>A c.499G>A c.-553+4880C>T (n.-553+4880C>T) c.2259G>A (p.Leu753=) c.2163G>A (p.Leu721=) c.-176G>A (n.-176G>A) c.2286G>A (p.Leu762=) c.2190G>A (p.Leu730=) c.2130G>A (p.Leu710=) c.2034G>A (p.Leu678=)	dbSNP
6	g.43048389A>C	CA364219044	CUL7,KLC4	c.2006T>G (p.Leu669Arg) n.2289T>G c.2102T>G (p.Leu701Arg) n.2305T>G n.2340T>G c.498T>G c.-553+4881A>C (n.-553+4881A>C) c.2258T>G (p.Leu753Arg) c.2162T>G (p.Leu721Arg) c.-177T>G (n.-177T>G) c.2285T>G (p.Leu762Arg) c.2189T>G (p.Leu730Arg) c.2129T>G (p.Leu710Arg) c.2033T>G (p.Leu678Arg)
6	g.43048389A>G	CA364219045	CUL7,KLC4	c.2006T>C (p.Leu669Pro) n.2289T>C c.2102T>C (p.Leu701Pro) n.2305T>C n.2340T>C c.498T>C c.-553+4881A>G (n.-553+4881A>G) c.2258T>C (p.Leu753Pro) c.2162T>C (p.Leu721Pro) c.-177T>C (n.-177T>C) c.2285T>C (p.Leu762Pro) c.2189T>C (p.Leu730Pro) c.2129T>C (p.Leu710Pro) c.2033T>C (p.Leu678Pro)	gnomAD v4
6	g.43048389A>T	CA364219046	CUL7,KLC4	c.2006T>A (p.Leu669Gln) n.2289T>A c.2102T>A (p.Leu701Gln) n.2305T>A n.2340T>A c.498T>A c.-553+4881A>T (n.-553+4881A>T) c.2258T>A (p.Leu753Gln) c.2162T>A (p.Leu721Gln) c.-177T>A (n.-177T>A) c.2285T>A (p.Leu762Gln) c.2189T>A (p.Leu730Gln) c.2129T>A (p.Leu710Gln) c.2033T>A (p.Leu678Gln)
6	g.43048390G>A	CA450261748	CUL7,KLC4	c.2005C>T (p.Leu669=) n.2288C>T c.2101C>T (p.Leu701=) n.2304C>T n.2339C>T c.497C>T c.-553+4882G>A (n.-553+4882G>A) c.2257C>T (p.Leu753=) c.2161C>T (p.Leu721=) c.-178C>T (n.-178C>T) c.2284C>T (p.Leu762=) c.2188C>T (p.Leu730=) c.2128C>T (p.Leu710=) c.2032C>T (p.Leu678=)
6	g.43048390G>C	CA364219049	CUL7,KLC4	c.2005C>G (p.Leu669Val) n.2288C>G c.2101C>G (p.Leu701Val) n.2304C>G n.2339C>G c.497C>G c.-553+4882G>C (n.-553+4882G>C) c.2257C>G (p.Leu753Val) c.2161C>G (p.Leu721Val) c.-178C>G (n.-178C>G) c.2284C>G (p.Leu762Val) c.2188C>G (p.Leu730Val) c.2128C>G (p.Leu710Val) c.2032C>G (p.Leu678Val)
6	g.43048390G>T	CA364219050	CUL7,KLC4	c.2005C>A (p.Leu669Met) n.2288C>A c.2101C>A (p.Leu701Met) n.2304C>A n.2339C>A c.497C>A c.-553+4882G>T (n.-553+4882G>T) c.2257C>A (p.Leu753Met) c.2161C>A (p.Leu721Met) c.-178C>A (n.-178C>A) c.2284C>A (p.Leu762Met) c.2188C>A (p.Leu730Met) c.2128C>A (p.Leu710Met) c.2032C>A (p.Leu678Met)
6	g.43048391T>A	CA450261749	CUL7,KLC4	c.2004A>T (p.Ala668=) n.2287A>T c.2100A>T (p.Ala700=) n.2303A>T n.2338A>T c.496A>T c.-553+4883T>A (n.-553+4883T>A) c.2256A>T (p.Ala752=) c.2160A>T (p.Ala720=) c.-179A>T (n.-179A>T) c.2283A>T (p.Ala761=) c.2187A>T (p.Ala729=) c.2127A>T (p.Ala709=) c.2031A>T (p.Ala677=)
6	g.43048391T>C	CA450261750	CUL7,KLC4	c.2004A>G (p.Ala668=) n.2287A>G c.2100A>G (p.Ala700=) n.2303A>G n.2338A>G c.496A>G c.-553+4883T>C (n.-553+4883T>C) c.2256A>G (p.Ala752=) c.2160A>G (p.Ala720=) c.-179A>G (n.-179A>G) c.2283A>G (p.Ala761=) c.2187A>G (p.Ala729=) c.2127A>G (p.Ala709=) c.2031A>G (p.Ala677=)
6	g.43048391T>G	CA450261751	CUL7,KLC4	c.2004A>C (p.Ala668=) n.2287A>C c.2100A>C (p.Ala700=) n.2303A>C n.2338A>C c.496A>C c.-553+4883T>G (n.-553+4883T>G) c.2256A>C (p.Ala752=) c.2160A>C (p.Ala720=) c.-179A>C (n.-179A>C) c.2283A>C (p.Ala761=) c.2187A>C (p.Ala729=) c.2127A>C (p.Ala709=) c.2031A>C (p.Ala677=)
6	g.43048392G>A	CA364219052	CUL7,KLC4	c.2003C>T (p.Ala668Val) n.2286C>T c.2099C>T (p.Ala700Val) n.2302C>T n.2337C>T c.495C>T c.-553+4884G>A (n.-553+4884G>A) c.2255C>T (p.Ala752Val) c.2159C>T (p.Ala720Val) c.-180C>T (n.-180C>T) c.2282C>T (p.Ala761Val) c.2186C>T (p.Ala729Val) c.2126C>T (p.Ala709Val) c.2030C>T (p.Ala677Val)
6	g.43048392G>C	CA364219053	CUL7,KLC4	c.2003C>G (p.Ala668Gly) n.2286C>G c.2099C>G (p.Ala700Gly) n.2302C>G n.2337C>G c.495C>G c.-553+4884G>C (n.-553+4884G>C) c.2255C>G (p.Ala752Gly) c.2159C>G (p.Ala720Gly) c.-180C>G (n.-180C>G) c.2282C>G (p.Ala761Gly) c.2186C>G (p.Ala729Gly) c.2126C>G (p.Ala709Gly) c.2030C>G (p.Ala677Gly)
6	g.43048392G>T	CA364219055	CUL7,KLC4	c.2003C>A (p.Ala668Glu) n.2286C>A c.2099C>A (p.Ala700Glu) n.2302C>A n.2337C>A c.495C>A c.-553+4884G>T (n.-553+4884G>T) c.2255C>A (p.Ala752Glu) c.2159C>A (p.Ala720Glu) c.-180C>A (n.-180C>A) c.2282C>A (p.Ala761Glu) c.2186C>A (p.Ala729Glu) c.2126C>A (p.Ala709Glu) c.2030C>A (p.Ala677Glu)
6	g.43048393C>A	CA364219059	CUL7,KLC4	c.2002G>T (p.Ala668Ser) n.2285G>T c.2098G>T (p.Ala700Ser) n.2301G>T n.2336G>T c.494G>T c.-553+4885C>A (n.-553+4885C>A) c.2254G>T (p.Ala752Ser) c.2158G>T (p.Ala720Ser) c.-181G>T (n.-181G>T) c.2281G>T (p.Ala761Ser) c.2185G>T (p.Ala729Ser) c.2125G>T (p.Ala709Ser) c.2029G>T (p.Ala677Ser)
6	g.43048393C=	CA1624357343	CUL7,KLC4	c.2002G= (p.Ala668=) n.2285G= c.2098G= (p.Ala700=) n.2301G= n.2336G= c.494G= c.-553+4885C= (n.-553+4885C=) c.2254G= (p.Ala752=) c.2158G= (p.Ala720=) c.-181G= (n.-181G=) c.2281G= (p.Ala761=) c.2185G= (p.Ala729=) c.2125G= (p.Ala709=) c.2029G= (p.Ala677=)
6	g.43048393C>G	CA364219058	CUL7,KLC4	c.2002G>C (p.Ala668Pro) n.2285G>C c.2098G>C (p.Ala700Pro) n.2301G>C n.2336G>C c.494G>C c.-553+4885C>G (n.-553+4885C>G) c.2254G>C (p.Ala752Pro) c.2158G>C (p.Ala720Pro) c.-181G>C (n.-181G>C) c.2281G>C (p.Ala761Pro) c.2185G>C (p.Ala729Pro) c.2125G>C (p.Ala709Pro) c.2029G>C (p.Ala677Pro)
6	g.43048393C>T	CA3814022	CUL7,KLC4	c.2002G>A (p.Ala668Thr) n.2285G>A c.2098G>A (p.Ala700Thr) n.2301G>A n.2336G>A c.494G>A c.-553+4885C>T (n.-553+4885C>T) c.2254G>A (p.Ala752Thr) c.2158G>A (p.Ala720Thr) c.-181G>A (n.-181G>A) c.2281G>A (p.Ala761Thr) c.2185G>A (p.Ala729Thr) c.2125G>A (p.Ala709Thr) c.2029G>A (p.Ala677Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048394C>A	CA450261752	CUL7,KLC4	c.2001G>T (p.Leu667=) n.2284G>T c.2097G>T (p.Leu699=) n.2300G>T n.2335G>T c.493G>T c.-553+4886C>A (n.-553+4886C>A) c.2253G>T (p.Leu751=) c.2157G>T (p.Leu719=) c.-182G>T (n.-182G>T) c.2280G>T (p.Leu760=) c.2184G>T (p.Leu728=) c.2124G>T (p.Leu708=) c.2028G>T (p.Leu676=)
6	g.43048394C=	CA1624357344	CUL7,KLC4	c.2001G= (p.Leu667=) n.2284G= c.2097G= (p.Leu699=) n.2300G= n.2335G= c.493G= c.-553+4886C= (n.-553+4886C=) c.2253G= (p.Leu751=) c.2157G= (p.Leu719=) c.-182G= (n.-182G=) c.2280G= (p.Leu760=) c.2184G= (p.Leu728=) c.2124G= (p.Leu708=) c.2028G= (p.Leu676=)
6	g.43048394C>G	CA450261754	CUL7,KLC4	c.2001G>C (p.Leu667=) n.2284G>C c.2097G>C (p.Leu699=) n.2300G>C n.2335G>C c.493G>C c.-553+4886C>G (n.-553+4886C>G) c.2253G>C (p.Leu751=) c.2157G>C (p.Leu719=) c.-182G>C (n.-182G>C) c.2280G>C (p.Leu760=) c.2184G>C (p.Leu728=) c.2124G>C (p.Leu708=) c.2028G>C (p.Leu676=)
6	g.43048394C>T	CA3814023	CUL7,KLC4	c.2001G>A (p.Leu667=) n.2284G>A c.2097G>A (p.Leu699=) n.2300G>A n.2335G>A c.493G>A c.-553+4886C>T (n.-553+4886C>T) c.2253G>A (p.Leu751=) c.2157G>A (p.Leu719=) c.-182G>A (n.-182G>A) c.2280G>A (p.Leu760=) c.2184G>A (p.Leu728=) c.2124G>A (p.Leu708=) c.2028G>A (p.Leu676=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048395A>C	CA364219061	CUL7,KLC4	c.2000T>G (p.Leu667Arg) n.2283T>G c.2096T>G (p.Leu699Arg) n.2299T>G n.2334T>G c.492T>G c.-553+4887A>C (n.-553+4887A>C) c.2252T>G (p.Leu751Arg) c.2156T>G (p.Leu719Arg) c.-183T>G (n.-183T>G) c.2279T>G (p.Leu760Arg) c.2183T>G (p.Leu728Arg) c.2123T>G (p.Leu708Arg) c.2027T>G (p.Leu676Arg)
6	g.43048395A>G	CA364219062	CUL7,KLC4	c.2000T>C (p.Leu667Pro) n.2283T>C c.2096T>C (p.Leu699Pro) n.2299T>C n.2334T>C c.492T>C c.-553+4887A>G (n.-553+4887A>G) c.2252T>C (p.Leu751Pro) c.2156T>C (p.Leu719Pro) c.-183T>C (n.-183T>C) c.2279T>C (p.Leu760Pro) c.2183T>C (p.Leu728Pro) c.2123T>C (p.Leu708Pro) c.2027T>C (p.Leu676Pro)
6	g.43048395A>T	CA364219064	CUL7,KLC4	c.2000T>A (p.Leu667Gln) n.2283T>A c.2096T>A (p.Leu699Gln) n.2299T>A n.2334T>A c.492T>A c.-553+4887A>T (n.-553+4887A>T) c.2252T>A (p.Leu751Gln) c.2156T>A (p.Leu719Gln) c.-183T>A (n.-183T>A) c.2279T>A (p.Leu760Gln) c.2183T>A (p.Leu728Gln) c.2123T>A (p.Leu708Gln) c.2027T>A (p.Leu676Gln)
6	g.43048395_43048406delinsAGGAAGGGCTGC	CA1624357345	CUL7,KLC4	c.1989_2000delinsGCAGCCCTTCCT (p.Pro663=) n.2272_2283delinsGCAGCCCTTCCT c.2085_2096delinsGCAGCCCTTCCT (p.Pro695=) n.2288_2299delinsGCAGCCCTTCCT n.2323_2334delinsGCAGCCCTTCCT c.481_492delinsGCAGCCCTTCCT c.-553+4887_-553+4898delinsAGGAAGGGCTGC (n.-553+4887_-553+4898delinsAGGAAGGGCTGC) c.2241_2252delinsGCAGCCCTTCCT (p.Pro747=) c.2145_2156delinsGCAGCCCTTCCT (p.Pro715=) c.-194_-183delinsGCAGCCCTTCCT (n.-194_-183delinsGCAGCCCTTCCT) c.2268_2279delinsGCAGCCCTTCCT (p.Pro756=) c.2172_2183delinsGCAGCCCTTCCT (p.Pro724=) c.2112_2123delinsGCAGCCCTTCCT (p.Pro704=) c.2016_2027delinsGCAGCCCTTCCT (p.Pro672=)
6	g.43048396G>A	CA450261853	CUL7,KLC4	c.1999C>T (p.Leu667=) n.2282C>T c.2095C>T (p.Leu699=) n.2298C>T n.2333C>T c.491C>T c.-553+4888G>A (n.-553+4888G>A) c.2251C>T (p.Leu751=) c.2155C>T (p.Leu719=) c.-184C>T (n.-184C>T) c.2278C>T (p.Leu760=) c.2182C>T (p.Leu728=) c.2122C>T (p.Leu708=) c.2026C>T (p.Leu676=)
6	g.43048396G>C	CA364220019	CUL7,KLC4	c.1999C>G (p.Leu667Val) n.2282C>G c.2095C>G (p.Leu699Val) n.2298C>G n.2333C>G c.491C>G c.-553+4888G>C (n.-553+4888G>C) c.2251C>G (p.Leu751Val) c.2155C>G (p.Leu719Val) c.-184C>G (n.-184C>G) c.2278C>G (p.Leu760Val) c.2182C>G (p.Leu728Val) c.2122C>G (p.Leu708Val) c.2026C>G (p.Leu676Val)
6	g.43048396G>T	CA364220035	CUL7,KLC4	c.1999C>A (p.Leu667Met) n.2282C>A c.2095C>A (p.Leu699Met) n.2298C>A n.2333C>A c.491C>A c.-553+4888G>T (n.-553+4888G>T) c.2251C>A (p.Leu751Met) c.2155C>A (p.Leu719Met) c.-184C>A (n.-184C>A) c.2278C>A (p.Leu760Met) c.2182C>A (p.Leu728Met) c.2122C>A (p.Leu708Met) c.2026C>A (p.Leu676Met)
6	g.43048397del	CA2678807748	CUL7,KLC4	c.1999del (p.Leu667TrpfsTer3) n.2282del c.2095del (p.Leu699TrpfsTer3) n.2298del n.2333del c.491del c.-553+4889del (n.-553+4889del) c.2251del (p.Leu751TrpfsTer3) c.2155del (p.Leu719TrpfsTer3) c.-184del (n.-184del) c.2278del (p.Leu760TrpfsTer3) c.2182del (p.Leu728TrpfsTer3) c.2122del (p.Leu708TrpfsTer3) c.2026del (p.Leu676TrpfsTer3)	gnomAD v4
6	g.43048398_43048408del	CA3814024	CUL7,KLC4	c.1989_1999del (p.Gln664GlyfsTer12) n.2272_2282del c.2085_2095del (p.Gln696GlyfsTer12) n.2288_2298del n.2323_2333del c.481_491del c.-553+4890_-553+4900del (n.-553+4890_-553+4900del) c.2241_2251del (p.Gln748GlyfsTer12) c.2145_2155del (p.Gln716GlyfsTer12) c.-194_-184del (n.-194_-184del) c.2268_2278del (p.Gln757GlyfsTer12) c.2172_2182del (p.Gln725GlyfsTer12) c.2112_2122del (p.Gln705GlyfsTer12) c.2016_2026del (p.Gln673GlyfsTer12)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048397G>A	CA450261857	CUL7,KLC4	c.1998C>T (p.Phe666=) n.2281C>T c.2094C>T (p.Phe698=) n.2297C>T n.2332C>T c.490C>T c.-553+4889G>A (n.-553+4889G>A) c.2250C>T (p.Phe750=) c.2154C>T (p.Phe718=) c.-185C>T (n.-185C>T) c.2277C>T (p.Phe759=) c.2181C>T (p.Phe727=) c.2121C>T (p.Phe707=) c.2025C>T (p.Phe675=)
6	g.43048397G>C	CA364220042	CUL7,KLC4	c.1998C>G (p.Phe666Leu) n.2281C>G c.2094C>G (p.Phe698Leu) n.2297C>G n.2332C>G c.490C>G c.-553+4889G>C (n.-553+4889G>C) c.2250C>G (p.Phe750Leu) c.2154C>G (p.Phe718Leu) c.-185C>G (n.-185C>G) c.2277C>G (p.Phe759Leu) c.2181C>G (p.Phe727Leu) c.2121C>G (p.Phe707Leu) c.2025C>G (p.Phe675Leu)	dbSNP gnomAD v3 gnomAD v4
6	g.43048397G=	CA1624357346	CUL7,KLC4	c.1998C= (p.Phe666=) n.2281C= c.2094C= (p.Phe698=) n.2297C= n.2332C= c.490C= c.-553+4889G= (n.-553+4889G=) c.2250C= (p.Phe750=) c.2154C= (p.Phe718=) c.-185C= (n.-185C=) c.2277C= (p.Phe759=) c.2181C= (p.Phe727=) c.2121C= (p.Phe707=) c.2025C= (p.Phe675=)
6	g.43048397G>T	CA364220044	CUL7,KLC4	c.1998C>A (p.Phe666Leu) n.2281C>A c.2094C>A (p.Phe698Leu) n.2297C>A n.2332C>A c.490C>A c.-553+4889G>T (n.-553+4889G>T) c.2250C>A (p.Phe750Leu) c.2154C>A (p.Phe718Leu) c.-185C>A (n.-185C>A) c.2277C>A (p.Phe759Leu) c.2181C>A (p.Phe727Leu) c.2121C>A (p.Phe707Leu) c.2025C>A (p.Phe675Leu)
6	g.43048398A=	CA1624357347	CUL7,KLC4	c.1997T= (p.Phe666=) n.2280T= c.2093T= (p.Phe698=) n.2296T= n.2331T= c.489T= c.-553+4890A= (n.-553+4890A=) c.2249T= (p.Phe750=) c.2153T= (p.Phe718=) c.-186T= (n.-186T=) c.2276T= (p.Phe759=) c.2180T= (p.Phe727=) c.2120T= (p.Phe707=) c.2024T= (p.Phe675=)
6	g.43048398A>C	CA138249254	CUL7,KLC4	c.1997T>G (p.Phe666Cys) n.2280T>G c.2093T>G (p.Phe698Cys) n.2296T>G n.2331T>G c.489T>G c.-553+4890A>C (n.-553+4890A>C) c.2249T>G (p.Phe750Cys) c.2153T>G (p.Phe718Cys) c.-186T>G (n.-186T>G) c.2276T>G (p.Phe759Cys) c.2180T>G (p.Phe727Cys) c.2120T>G (p.Phe707Cys) c.2024T>G (p.Phe675Cys)	dbSNP
6	g.43048398A>G	CA364220051	CUL7,KLC4	c.1997T>C (p.Phe666Ser) n.2280T>C c.2093T>C (p.Phe698Ser) n.2296T>C n.2331T>C c.489T>C c.-553+4890A>G (n.-553+4890A>G) c.2249T>C (p.Phe750Ser) c.2153T>C (p.Phe718Ser) c.-186T>C (n.-186T>C) c.2276T>C (p.Phe759Ser) c.2180T>C (p.Phe727Ser) c.2120T>C (p.Phe707Ser) c.2024T>C (p.Phe675Ser)
6	g.43048398A>T	CA364220054	CUL7,KLC4	c.1997T>A (p.Phe666Tyr) n.2280T>A c.2093T>A (p.Phe698Tyr) n.2296T>A n.2331T>A c.489T>A c.-553+4890A>T (n.-553+4890A>T) c.2249T>A (p.Phe750Tyr) c.2153T>A (p.Phe718Tyr) c.-186T>A (n.-186T>A) c.2276T>A (p.Phe759Tyr) c.2180T>A (p.Phe727Tyr) c.2120T>A (p.Phe707Tyr) c.2024T>A (p.Phe675Tyr)
6	g.43048399A>C	CA364220063	CUL7,KLC4	c.1996T>G (p.Phe666Val) n.2279T>G c.2092T>G (p.Phe698Val) n.2295T>G n.2330T>G c.488T>G c.-553+4891A>C (n.-553+4891A>C) c.2248T>G (p.Phe750Val) c.2152T>G (p.Phe718Val) c.-187T>G (n.-187T>G) c.2275T>G (p.Phe759Val) c.2179T>G (p.Phe727Val) c.2119T>G (p.Phe707Val) c.2023T>G (p.Phe675Val)
6	g.43048399A>G	CA364220061	CUL7,KLC4	c.1996T>C (p.Phe666Leu) n.2279T>C c.2092T>C (p.Phe698Leu) n.2295T>C n.2330T>C c.488T>C c.-553+4891A>G (n.-553+4891A>G) c.2248T>C (p.Phe750Leu) c.2152T>C (p.Phe718Leu) c.-187T>C (n.-187T>C) c.2275T>C (p.Phe759Leu) c.2179T>C (p.Phe727Leu) c.2119T>C (p.Phe707Leu) c.2023T>C (p.Phe675Leu)
6	g.43048399A>T	CA364220057	CUL7,KLC4	c.1996T>A (p.Phe666Ile) n.2279T>A c.2092T>A (p.Phe698Ile) n.2295T>A n.2330T>A c.488T>A c.-553+4891A>T (n.-553+4891A>T) c.2248T>A (p.Phe750Ile) c.2152T>A (p.Phe718Ile) c.-187T>A (n.-187T>A) c.2275T>A (p.Phe759Ile) c.2179T>A (p.Phe727Ile) c.2119T>A (p.Phe707Ile) c.2023T>A (p.Phe675Ile)
6	g.43048400G>A	CA450261863	CUL7,KLC4	c.1995C>T (p.Pro665=) n.2278C>T c.2091C>T (p.Pro697=) n.2294C>T n.2329C>T c.487C>T c.-553+4892G>A (n.-553+4892G>A) c.2247C>T (p.Pro749=) c.2151C>T (p.Pro717=) c.-188C>T (n.-188C>T) c.2274C>T (p.Pro758=) c.2178C>T (p.Pro726=) c.2118C>T (p.Pro706=) c.2022C>T (p.Pro674=)
6	g.43048400G>C	CA450261865	CUL7,KLC4	c.1995C>G (p.Pro665=) n.2278C>G c.2091C>G (p.Pro697=) n.2294C>G n.2329C>G c.487C>G c.-553+4892G>C (n.-553+4892G>C) c.2247C>G (p.Pro749=) c.2151C>G (p.Pro717=) c.-188C>G (n.-188C>G) c.2274C>G (p.Pro758=) c.2178C>G (p.Pro726=) c.2118C>G (p.Pro706=) c.2022C>G (p.Pro674=)
6	g.43048400G>T	CA450261864	CUL7,KLC4	c.1995C>A (p.Pro665=) n.2278C>A c.2091C>A (p.Pro697=) n.2294C>A n.2329C>A c.487C>A c.-553+4892G>T (n.-553+4892G>T) c.2247C>A (p.Pro749=) c.2151C>A (p.Pro717=) c.-188C>A (n.-188C>A) c.2274C>A (p.Pro758=) c.2178C>A (p.Pro726=) c.2118C>A (p.Pro706=) c.2022C>A (p.Pro674=)
6	g.43048401G>A	CA364220067	CUL7,KLC4	c.1994C>T (p.Pro665Leu) n.2277C>T c.2090C>T (p.Pro697Leu) n.2293C>T n.2328C>T c.486C>T c.-553+4893G>A (n.-553+4893G>A) c.2246C>T (p.Pro749Leu) c.2150C>T (p.Pro717Leu) c.-189C>T (n.-189C>T) c.2273C>T (p.Pro758Leu) c.2177C>T (p.Pro726Leu) c.2117C>T (p.Pro706Leu) c.2021C>T (p.Pro674Leu)
6	g.43048401G>C	CA364220073	CUL7,KLC4	c.1994C>G (p.Pro665Arg) n.2277C>G c.2090C>G (p.Pro697Arg) n.2293C>G n.2328C>G c.486C>G c.-553+4893G>C (n.-553+4893G>C) c.2246C>G (p.Pro749Arg) c.2150C>G (p.Pro717Arg) c.-189C>G (n.-189C>G) c.2273C>G (p.Pro758Arg) c.2177C>G (p.Pro726Arg) c.2117C>G (p.Pro706Arg) c.2021C>G (p.Pro674Arg)
6	g.43048401G>T	CA364220070	CUL7,KLC4	c.1994C>A (p.Pro665His) n.2277C>A c.2090C>A (p.Pro697His) n.2293C>A n.2328C>A c.486C>A c.-553+4893G>T (n.-553+4893G>T) c.2246C>A (p.Pro749His) c.2150C>A (p.Pro717His) c.-189C>A (n.-189C>A) c.2273C>A (p.Pro758His) c.2177C>A (p.Pro726His) c.2117C>A (p.Pro706His) c.2021C>A (p.Pro674His)
6	g.43048402G>A	CA364220081	CUL7,KLC4	c.1993C>T (p.Pro665Ser) n.2276C>T c.2089C>T (p.Pro697Ser) n.2292C>T n.2327C>T c.485C>T c.-553+4894G>A (n.-553+4894G>A) c.2245C>T (p.Pro749Ser) c.2149C>T (p.Pro717Ser) c.-190C>T (n.-190C>T) c.2272C>T (p.Pro758Ser) c.2176C>T (p.Pro726Ser) c.2116C>T (p.Pro706Ser) c.2020C>T (p.Pro674Ser)
6	g.43048402G>C	CA364220083	CUL7,KLC4	c.1993C>G (p.Pro665Ala) n.2276C>G c.2089C>G (p.Pro697Ala) n.2292C>G n.2327C>G c.485C>G c.-553+4894G>C (n.-553+4894G>C) c.2245C>G (p.Pro749Ala) c.2149C>G (p.Pro717Ala) c.-190C>G (n.-190C>G) c.2272C>G (p.Pro758Ala) c.2176C>G (p.Pro726Ala) c.2116C>G (p.Pro706Ala) c.2020C>G (p.Pro674Ala)
6	g.43048402G>T	CA364220085	CUL7,KLC4	c.1993C>A (p.Pro665Thr) n.2276C>A c.2089C>A (p.Pro697Thr) n.2292C>A n.2327C>A c.485C>A c.-553+4894G>T (n.-553+4894G>T) c.2245C>A (p.Pro749Thr) c.2149C>A (p.Pro717Thr) c.-190C>A (n.-190C>A) c.2272C>A (p.Pro758Thr) c.2176C>A (p.Pro726Thr) c.2116C>A (p.Pro706Thr) c.2020C>A (p.Pro674Thr)
6	g.43048406_43048407insAGCTGCTGC	CA2578622201	CUL7,KLC4	c.1993_1994insAGCTGCAGC (p.Gln664_Pro665insGlnLeuGln) n.2276_2277insAGCTGCAGC c.2089_2090insAGCTGCAGC (p.Gln696_Pro697insGlnLeuGln) n.2292_2293insAGCTGCAGC n.2327_2328insAGCTGCAGC c.485_486insAGCTGCAGC c.-553+4898_-553+4899insAGCTGCTGC (n.-553+4898_-553+4899insAGCTGCTGC) c.2245_2246insAGCTGCAGC (p.Gln748_Pro749insGlnLeuGln) c.2149_2150insAGCTGCAGC (p.Gln716_Pro717insGlnLeuGln) c.-190_-189insAGCTGCAGC (n.-190_-189insAGCTGCAGC) c.2272_2273insAGCTGCAGC (p.Gln757_Pro758insGlnLeuGln) c.2176_2177insAGCTGCAGC (p.Gln725_Pro726insGlnLeuGln) c.2116_2117insAGCTGCAGC (p.Gln705_Pro706insGlnLeuGln) c.2020_2021insAGCTGCAGC (p.Gln673_Pro674insGlnLeuGln)
6	g.43048403C>A	CA364220091	CUL7,KLC4	c.1992G>T (p.Gln664His) n.2275G>T c.2088G>T (p.Gln696His) n.2291G>T n.2326G>T c.484G>T c.-553+4895C>A (n.-553+4895C>A) c.2244G>T (p.Gln748His) c.2148G>T (p.Gln716His) c.-191G>T (n.-191G>T) c.2271G>T (p.Gln757His) c.2175G>T (p.Gln725His) c.2115G>T (p.Gln705His) c.2019G>T (p.Gln673His)
6	g.43048403C>G	CA364220093	CUL7,KLC4	c.1992G>C (p.Gln664His) n.2275G>C c.2088G>C (p.Gln696His) n.2291G>C n.2326G>C c.484G>C c.-553+4895C>G (n.-553+4895C>G) c.2244G>C (p.Gln748His) c.2148G>C (p.Gln716His) c.-191G>C (n.-191G>C) c.2271G>C (p.Gln757His) c.2175G>C (p.Gln725His) c.2115G>C (p.Gln705His) c.2019G>C (p.Gln673His)
6	g.43048403C>T	CA450261872	CUL7,KLC4	c.1992G>A (p.Gln664=) n.2275G>A c.2088G>A (p.Gln696=) n.2291G>A n.2326G>A c.484G>A c.-553+4895C>T (n.-553+4895C>T) c.2244G>A (p.Gln748=) c.2148G>A (p.Gln716=) c.-191G>A (n.-191G>A) c.2271G>A (p.Gln757=) c.2175G>A (p.Gln725=) c.2115G>A (p.Gln705=) c.2019G>A (p.Gln673=)
6	g.43048404T>A	CA364220096	CUL7,KLC4	c.1991A>T (p.Gln664Leu) n.2274A>T c.2087A>T (p.Gln696Leu) n.2290A>T n.2325A>T c.483A>T c.-553+4896T>A (n.-553+4896T>A) c.2243A>T (p.Gln748Leu) c.2147A>T (p.Gln716Leu) c.-192A>T (n.-192A>T) c.2270A>T (p.Gln757Leu) c.2174A>T (p.Gln725Leu) c.2114A>T (p.Gln705Leu) c.2018A>T (p.Gln673Leu)
6	g.43048404T>C	CA364220098	CUL7,KLC4	c.1991A>G (p.Gln664Arg) n.2274A>G c.2087A>G (p.Gln696Arg) n.2290A>G n.2325A>G c.483A>G c.-553+4896T>C (n.-553+4896T>C) c.2243A>G (p.Gln748Arg) c.2147A>G (p.Gln716Arg) c.-192A>G (n.-192A>G) c.2270A>G (p.Gln757Arg) c.2174A>G (p.Gln725Arg) c.2114A>G (p.Gln705Arg) c.2018A>G (p.Gln673Arg)	dbSNP
6	g.43048404T>G	CA364220101	CUL7,KLC4	c.1991A>C (p.Gln664Pro) n.2274A>C c.2087A>C (p.Gln696Pro) n.2290A>C n.2325A>C c.483A>C c.-553+4896T>G (n.-553+4896T>G) c.2243A>C (p.Gln748Pro) c.2147A>C (p.Gln716Pro) c.-192A>C (n.-192A>C) c.2270A>C (p.Gln757Pro) c.2174A>C (p.Gln725Pro) c.2114A>C (p.Gln705Pro) c.2018A>C (p.Gln673Pro)
6	g.43048404T=	CA1624357348	CUL7,KLC4	c.1991A= (p.Gln664=) n.2274A= c.2087A= (p.Gln696=) n.2290A= n.2325A= c.483A= c.-553+4896T= (n.-553+4896T=) c.2243A= (p.Gln748=) c.2147A= (p.Gln716=) c.-192A= (n.-192A=) c.2270A= (p.Gln757=) c.2174A= (p.Gln725=) c.2114A= (p.Gln705=) c.2018A= (p.Gln673=)
6	g.43048404_43048405insACAGTGAGCAAGGCAGAGTGACGAAGTGAAAAGACAGGGATGGGGAGACACAAGAGCCAGGTGGTTAGAGAACCAAAGACAAACCAAAATGGAAAAGGGCACAA	CA2770820623	CUL7,KLC4	c.1990_1991insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT (p.Gln664LeufsTer41) n.2273_2274insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT c.2086_2087insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT (p.Gln696LeufsTer41) n.2289_2290insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT n.2324_2325insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT c.482_483insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT c.-553+4896_-553+4897insACAGTGAGCAAGGCAGAGTGACGAAGTGAAAAGACAGGGATGGGGAGACACAAGAGCCAGGTGGTTAGAGAACCAAAGACAAACCAAAATGGAAAAGGGCACAA (n.-553+4896_-553+4897insACAGTGAGCAAGGCAGAGTGACGAAGTGAAAAGACAGGGATGGGGAGACACAAGAGCCAGGTGGTTAGAGAACCAAAGACAAACCAAAATGGAAAAGGGCACAA) c.2242_2243insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT (p.Gln748LeufsTer41) c.2146_2147insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT (p.Gln716LeufsTer41) c.-193_-192insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT (n.-193_-192insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT) c.2269_2270insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT (p.Gln757LeufsTer41) c.2173_2174insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT (p.Gln725LeufsTer41) c.2113_2114insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT (p.Gln705LeufsTer41) c.2017_2018insTTGTGCCCTTTTCCATTTTGGTTTGTCTTTGGTTCTCTAACCACCTGGCTCTTGTGTCTCCCCATCCCTGTCTTTTCACTTCGTCACTCTGCCTTGCTCACTGT (p.Gln673LeufsTer41)
6	g.43048405G>A	CA364220104	CUL7,KLC4	c.1990C>T (p.Gln664Ter) n.2273C>T c.2086C>T (p.Gln696Ter) n.2289C>T n.2324C>T c.482C>T c.-553+4897G>A (n.-553+4897G>A) c.2242C>T (p.Gln748Ter) c.2146C>T (p.Gln716Ter) c.-193C>T (n.-193C>T) c.2269C>T (p.Gln757Ter) c.2173C>T (p.Gln725Ter) c.2113C>T (p.Gln705Ter) c.2017C>T (p.Gln673Ter)
6	g.43048405G>C	CA364220109	CUL7,KLC4	c.1990C>G (p.Gln664Glu) n.2273C>G c.2086C>G (p.Gln696Glu) n.2289C>G n.2324C>G c.482C>G c.-553+4897G>C (n.-553+4897G>C) c.2242C>G (p.Gln748Glu) c.2146C>G (p.Gln716Glu) c.-193C>G (n.-193C>G) c.2269C>G (p.Gln757Glu) c.2173C>G (p.Gln725Glu) c.2113C>G (p.Gln705Glu) c.2017C>G (p.Gln673Glu)
6	g.43048405G>T	CA364220106	CUL7,KLC4	c.1990C>A (p.Gln664Lys) n.2273C>A c.2086C>A (p.Gln696Lys) n.2289C>A n.2324C>A c.482C>A c.-553+4897G>T (n.-553+4897G>T) c.2242C>A (p.Gln748Lys) c.2146C>A (p.Gln716Lys) c.-193C>A (n.-193C>A) c.2269C>A (p.Gln757Lys) c.2173C>A (p.Gln725Lys) c.2113C>A (p.Gln705Lys) c.2017C>A (p.Gln673Lys)
6	g.43048406C>A	CA450261873	CUL7,KLC4	c.1989G>T (p.Pro663=) n.2272G>T c.2085G>T (p.Pro695=) n.2288G>T n.2323G>T c.481G>T c.-553+4898C>A (n.-553+4898C>A) c.2241G>T (p.Pro747=) c.2145G>T (p.Pro715=) c.-194G>T (n.-194G>T) c.2268G>T (p.Pro756=) c.2172G>T (p.Pro724=) c.2112G>T (p.Pro704=) c.2016G>T (p.Pro672=)
6	g.43048406C=	CA1624357349	CUL7,KLC4	c.1989G= (p.Pro663=) n.2272G= c.2085G= (p.Pro695=) n.2288G= n.2323G= c.481G= c.-553+4898C= (n.-553+4898C=) c.2241G= (p.Pro747=) c.2145G= (p.Pro715=) c.-194G= (n.-194G=) c.2268G= (p.Pro756=) c.2172G= (p.Pro724=) c.2112G= (p.Pro704=) c.2016G= (p.Pro672=)
6	g.43048406C>G	CA450261874	CUL7,KLC4	c.1989G>C (p.Pro663=) n.2272G>C c.2085G>C (p.Pro695=) n.2288G>C n.2323G>C c.481G>C c.-553+4898C>G (n.-553+4898C>G) c.2241G>C (p.Pro747=) c.2145G>C (p.Pro715=) c.-194G>C (n.-194G>C) c.2268G>C (p.Pro756=) c.2172G>C (p.Pro724=) c.2112G>C (p.Pro704=) c.2016G>C (p.Pro672=)
6	g.43048406C>T	CA3814025	CUL7,KLC4	c.1989G>A (p.Pro663=) n.2272G>A c.2085G>A (p.Pro695=) n.2288G>A n.2323G>A c.481G>A c.-553+4898C>T (n.-553+4898C>T) c.2241G>A (p.Pro747=) c.2145G>A (p.Pro715=) c.-194G>A (n.-194G>A) c.2268G>A (p.Pro756=) c.2172G>A (p.Pro724=) c.2112G>A (p.Pro704=) c.2016G>A (p.Pro672=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048407G>A	CA3814027	CUL7,KLC4	c.1988C>T (p.Pro663Leu) n.2271C>T c.2084C>T (p.Pro695Leu) n.2287C>T n.2322C>T c.480C>T c.-553+4899G>A (n.-553+4899G>A) c.2240C>T (p.Pro747Leu) c.2144C>T (p.Pro715Leu) c.-195C>T (n.-195C>T) c.2267C>T (p.Pro756Leu) c.2171C>T (p.Pro724Leu) c.2111C>T (p.Pro704Leu) c.2015C>T (p.Pro672Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048407G>C	CA364220115	CUL7,KLC4	c.1988C>G (p.Pro663Arg) n.2271C>G c.2084C>G (p.Pro695Arg) n.2287C>G n.2322C>G c.480C>G c.-553+4899G>C (n.-553+4899G>C) c.2240C>G (p.Pro747Arg) c.2144C>G (p.Pro715Arg) c.-195C>G (n.-195C>G) c.2267C>G (p.Pro756Arg) c.2171C>G (p.Pro724Arg) c.2111C>G (p.Pro704Arg) c.2015C>G (p.Pro672Arg)
6	g.43048407G=	CA1624357350	CUL7,KLC4	c.1988C= (p.Pro663=) n.2271C= c.2084C= (p.Pro695=) n.2287C= n.2322C= c.480C= c.-553+4899G= (n.-553+4899G=) c.2240C= (p.Pro747=) c.2144C= (p.Pro715=) c.-195C= (n.-195C=) c.2267C= (p.Pro756=) c.2171C= (p.Pro724=) c.2111C= (p.Pro704=) c.2015C= (p.Pro672=)
6	g.43048407G>T	CA364220119	CUL7,KLC4	c.1988C>A (p.Pro663Gln) n.2271C>A c.2084C>A (p.Pro695Gln) n.2287C>A n.2322C>A c.480C>A c.-553+4899G>T (n.-553+4899G>T) c.2240C>A (p.Pro747Gln) c.2144C>A (p.Pro715Gln) c.-195C>A (n.-195C>A) c.2267C>A (p.Pro756Gln) c.2171C>A (p.Pro724Gln) c.2111C>A (p.Pro704Gln) c.2015C>A (p.Pro672Gln)
6	g.43048408G>A	CA364220130	CUL7,KLC4	c.1987C>T (p.Pro663Ser) n.2270C>T c.2083C>T (p.Pro695Ser) n.2286C>T n.2321C>T c.479C>T c.-553+4900G>A (n.-553+4900G>A) c.2239C>T (p.Pro747Ser) c.2143C>T (p.Pro715Ser) c.-196C>T (n.-196C>T) c.2266C>T (p.Pro756Ser) c.2170C>T (p.Pro724Ser) c.2110C>T (p.Pro704Ser) c.2014C>T (p.Pro672Ser)
6	g.43048408G>C	CA364220128	CUL7,KLC4	c.1987C>G (p.Pro663Ala) n.2270C>G c.2083C>G (p.Pro695Ala) n.2286C>G n.2321C>G c.479C>G c.-553+4900G>C (n.-553+4900G>C) c.2239C>G (p.Pro747Ala) c.2143C>G (p.Pro715Ala) c.-196C>G (n.-196C>G) c.2266C>G (p.Pro756Ala) c.2170C>G (p.Pro724Ala) c.2110C>G (p.Pro704Ala) c.2014C>G (p.Pro672Ala)	dbSNP gnomAD v2 gnomAD v4
6	g.43048408G=	CA1624357351	CUL7,KLC4	c.1987C= (p.Pro663=) n.2270C= c.2083C= (p.Pro695=) n.2286C= n.2321C= c.479C= c.-553+4900G= (n.-553+4900G=) c.2239C= (p.Pro747=) c.2143C= (p.Pro715=) c.-196C= (n.-196C=) c.2266C= (p.Pro756=) c.2170C= (p.Pro724=) c.2110C= (p.Pro704=) c.2014C= (p.Pro672=)
6	g.43048408G>T	CA364220126	CUL7,KLC4	c.1987C>A (p.Pro663Thr) n.2270C>A c.2083C>A (p.Pro695Thr) n.2286C>A n.2321C>A c.479C>A c.-553+4900G>T (n.-553+4900G>T) c.2239C>A (p.Pro747Thr) c.2143C>A (p.Pro715Thr) c.-196C>A (n.-196C>A) c.2266C>A (p.Pro756Thr) c.2170C>A (p.Pro724Thr) c.2110C>A (p.Pro704Thr) c.2014C>A (p.Pro672Thr)
6	g.43048411_43048412insGCGCTG	CA3814026	CUL7,KLC4	c.1987_1988insGCCAGC (p.Gln662_Pro663insArgGln) n.2270_2271insGCCAGC c.2083_2084insGCCAGC (p.Gln694_Pro695insArgGln) n.2286_2287insGCCAGC n.2321_2322insGCCAGC c.479_480insGCCAGC c.-553+4903_-553+4904insGCGCTG (n.-553+4903_-553+4904insGCGCTG) c.2239_2240insGCCAGC (p.Gln746_Pro747insArgGln) c.2143_2144insGCCAGC (p.Gln714_Pro715insArgGln) c.-196_-195insGCCAGC (n.-196_-195insGCCAGC) c.2266_2267insGCCAGC (p.Gln755_Pro756insArgGln) c.2170_2171insGCCAGC (p.Gln723_Pro724insArgGln) c.2110_2111insGCCAGC (p.Gln703_Pro704insArgGln) c.2014_2015insGCCAGC (p.Gln671_Pro672insArgGln)	dbSNP ExAC gnomAD v2
6	g.43048413_43048418dup	CA567150901	CUL7,KLC4	c.1982_1987dup (p.Gln662_Pro663insArgGln) n.2265_2270dup c.2078_2083dup (p.Gln694_Pro695insArgGln) n.2281_2286dup n.2316_2321dup c.474_479dup c.-553+4905_-553+4910dup (n.-553+4905_-553+4910dup) c.2234_2239dup (p.Gln746_Pro747insArgGln) c.2138_2143dup (p.Gln714_Pro715insArgGln) c.-201_-196dup (n.-201_-196dup) c.2261_2266dup (p.Gln755_Pro756insArgGln) c.2165_2170dup (p.Gln723_Pro724insArgGln) c.2105_2110dup (p.Gln703_Pro704insArgGln) c.2009_2014dup (p.Gln671_Pro672insArgGln)	dbSNP gnomAD v2 gnomAD v4
6	g.43048413_43048424dup	CA2711878149	CUL7,KLC4	c.1976_1987dup (p.Gln662_Pro663insLeuGlnArgGln) n.2259_2270dup c.2072_2083dup (p.Gln694_Pro695insLeuGlnArgGln) n.2275_2286dup n.2310_2321dup c.468_479dup c.-553+4905_-553+4916dup (n.-553+4905_-553+4916dup) c.2228_2239dup (p.Gln746_Pro747insLeuGlnArgGln) c.2132_2143dup (p.Gln714_Pro715insLeuGlnArgGln) c.-207_-196dup (n.-207_-196dup) c.2255_2266dup (p.Gln755_Pro756insLeuGlnArgGln) c.2159_2170dup (p.Gln723_Pro724insLeuGlnArgGln) c.2099_2110dup (p.Gln703_Pro704insLeuGlnArgGln) c.2003_2014dup (p.Gln671_Pro672insLeuGlnArgGln)	dbSNP
6	g.43048409C>A	CA364220134	CUL7,KLC4	c.1986G>T (p.Gln662His) n.2269G>T c.2082G>T (p.Gln694His) n.2285G>T n.2320G>T c.478G>T c.-553+4901C>A (n.-553+4901C>A) c.2238G>T (p.Gln746His) c.2142G>T (p.Gln714His) c.-197G>T (n.-197G>T) c.2265G>T (p.Gln755His) c.2169G>T (p.Gln723His) c.2109G>T (p.Gln703His) c.2013G>T (p.Gln671His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048409C=	CA1624357352	CUL7,KLC4	c.1986G= (p.Gln662=) n.2269G= c.2082G= (p.Gln694=) n.2285G= n.2320G= c.478G= c.-553+4901C= (n.-553+4901C=) c.2238G= (p.Gln746=) c.2142G= (p.Gln714=) c.-197G= (n.-197G=) c.2265G= (p.Gln755=) c.2169G= (p.Gln723=) c.2109G= (p.Gln703=) c.2013G= (p.Gln671=)
6	g.43048409C>G	CA364220135	CUL7,KLC4	c.1986G>C (p.Gln662His) n.2269G>C c.2082G>C (p.Gln694His) n.2285G>C n.2320G>C c.478G>C c.-553+4901C>G (n.-553+4901C>G) c.2238G>C (p.Gln746His) c.2142G>C (p.Gln714His) c.-197G>C (n.-197G>C) c.2265G>C (p.Gln755His) c.2169G>C (p.Gln723His) c.2109G>C (p.Gln703His) c.2013G>C (p.Gln671His)
6	g.43048409C>T	CA450261877	CUL7,KLC4	c.1986G>A (p.Gln662=) n.2269G>A c.2082G>A (p.Gln694=) n.2285G>A n.2320G>A c.478G>A c.-553+4901C>T (n.-553+4901C>T) c.2238G>A (p.Gln746=) c.2142G>A (p.Gln714=) c.-197G>A (n.-197G>A) c.2265G>A (p.Gln755=) c.2169G>A (p.Gln723=) c.2109G>A (p.Gln703=) c.2013G>A (p.Gln671=)
6	g.43048410T>A	CA364220140	CUL7,KLC4	c.1985A>T (p.Gln662Leu) n.2268A>T c.2081A>T (p.Gln694Leu) n.2284A>T n.2319A>T c.477A>T c.-553+4902T>A (n.-553+4902T>A) c.2237A>T (p.Gln746Leu) c.2141A>T (p.Gln714Leu) c.-198A>T (n.-198A>T) c.2264A>T (p.Gln755Leu) c.2168A>T (p.Gln723Leu) c.2108A>T (p.Gln703Leu) c.2012A>T (p.Gln671Leu)
6	g.43048410T>C	CA364220143	CUL7,KLC4	c.1985A>G (p.Gln662Arg) n.2268A>G c.2081A>G (p.Gln694Arg) n.2284A>G n.2319A>G c.477A>G c.-553+4902T>C (n.-553+4902T>C) c.2237A>G (p.Gln746Arg) c.2141A>G (p.Gln714Arg) c.-198A>G (n.-198A>G) c.2264A>G (p.Gln755Arg) c.2168A>G (p.Gln723Arg) c.2108A>G (p.Gln703Arg) c.2012A>G (p.Gln671Arg)
6	g.43048410T>G	CA364220147	CUL7,KLC4	c.1985A>C (p.Gln662Pro) n.2268A>C c.2081A>C (p.Gln694Pro) n.2284A>C n.2319A>C c.477A>C c.-553+4902T>G (n.-553+4902T>G) c.2237A>C (p.Gln746Pro) c.2141A>C (p.Gln714Pro) c.-198A>C (n.-198A>C) c.2264A>C (p.Gln755Pro) c.2168A>C (p.Gln723Pro) c.2108A>C (p.Gln703Pro) c.2012A>C (p.Gln671Pro)
6	g.43048410T=	CA1624357353	CUL7,KLC4	c.1985A= (p.Gln662=) n.2268A= c.2081A= (p.Gln694=) n.2284A= n.2319A= c.477A= c.-553+4902T= (n.-553+4902T=) c.2237A= (p.Gln746=) c.2141A= (p.Gln714=) c.-198A= (n.-198A=) c.2264A= (p.Gln755=) c.2168A= (p.Gln723=) c.2108A= (p.Gln703=) c.2012A= (p.Gln671=)
6	g.43048411G>A	CA364220153	CUL7,KLC4	c.1984C>T (p.Gln662Ter) n.2267C>T c.2080C>T (p.Gln694Ter) n.2283C>T n.2318C>T c.476C>T c.-553+4903G>A (n.-553+4903G>A) c.2236C>T (p.Gln746Ter) c.2140C>T (p.Gln714Ter) c.-199C>T (n.-199C>T) c.2263C>T (p.Gln755Ter) c.2167C>T (p.Gln723Ter) c.2107C>T (p.Gln703Ter) c.2011C>T (p.Gln671Ter)
6	g.43048411G>C	CA138249266	CUL7,KLC4	c.1984C>G (p.Gln662Glu) n.2267C>G c.2080C>G (p.Gln694Glu) n.2283C>G n.2318C>G c.476C>G c.-553+4903G>C (n.-553+4903G>C) c.2236C>G (p.Gln746Glu) c.2140C>G (p.Gln714Glu) c.-199C>G (n.-199C>G) c.2263C>G (p.Gln755Glu) c.2167C>G (p.Gln723Glu) c.2107C>G (p.Gln703Glu) c.2011C>G (p.Gln671Glu)	dbSNP gnomAD v3 gnomAD v4
6	g.43048411G=	CA1624357354	CUL7,KLC4	c.1984C= (p.Gln662=) n.2267C= c.2080C= (p.Gln694=) n.2283C= n.2318C= c.476C= c.-553+4903G= (n.-553+4903G=) c.2236C= (p.Gln746=) c.2140C= (p.Gln714=) c.-199C= (n.-199C=) c.2263C= (p.Gln755=) c.2167C= (p.Gln723=) c.2107C= (p.Gln703=) c.2011C= (p.Gln671=)
6	g.43048411G>T	CA364220158	CUL7,KLC4	c.1984C>A (p.Gln662Lys) n.2267C>A c.2080C>A (p.Gln694Lys) n.2283C>A n.2318C>A c.476C>A c.-553+4903G>T (n.-553+4903G>T) c.2236C>A (p.Gln746Lys) c.2140C>A (p.Gln714Lys) c.-199C>A (n.-199C>A) c.2263C>A (p.Gln755Lys) c.2167C>A (p.Gln723Lys) c.2107C>A (p.Gln703Lys) c.2011C>A (p.Gln671Lys)
6	g.43048411_43048412insGCGG	CA138249264	CUL7,KLC4	c.1984_1985insCGCC (p.Gln662ProfsTer19) n.2267_2268insCGCC c.2080_2081insCGCC (p.Gln694ProfsTer19) n.2283_2284insCGCC n.2318_2319insCGCC c.476_477insCGCC c.-553+4903_-553+4904insGCGG (n.-553+4903_-553+4904insGCGG) c.2236_2237insCGCC (p.Gln746ProfsTer19) c.2140_2141insCGCC (p.Gln714ProfsTer19) c.-199_-198insCGCC (n.-199_-198insCGCC) c.2263_2264insCGCC (p.Gln755ProfsTer19) c.2167_2168insCGCC (p.Gln723ProfsTer19) c.2107_2108insCGCC (p.Gln703ProfsTer19) c.2011_2012insCGCC (p.Gln671ProfsTer19)	dbSNP
6	g.43048412C>A	CA450261884	CUL7,KLC4	c.1983G>T (p.Arg661=) n.2266G>T c.2079G>T (p.Arg693=) n.2282G>T n.2317G>T c.475G>T c.-553+4904C>A (n.-553+4904C>A) c.2235G>T (p.Arg745=) c.2139G>T (p.Arg713=) c.-200G>T (n.-200G>T) c.2262G>T (p.Arg754=) c.2166G>T (p.Arg722=) c.2106G>T (p.Arg702=) c.2010G>T (p.Arg670=)
6	g.43048412C=	CA1624357355	CUL7,KLC4	c.1983G= (p.Arg661=) n.2266G= c.2079G= (p.Arg693=) n.2282G= n.2317G= c.475G= c.-553+4904C= (n.-553+4904C=) c.2235G= (p.Arg745=) c.2139G= (p.Arg713=) c.-200G= (n.-200G=) c.2262G= (p.Arg754=) c.2166G= (p.Arg722=) c.2106G= (p.Arg702=) c.2010G= (p.Arg670=)
6	g.43048412C>G	CA3814028	CUL7,KLC4	c.1983G>C (p.Arg661=) n.2266G>C c.2079G>C (p.Arg693=) n.2282G>C n.2317G>C c.475G>C c.-553+4904C>G (n.-553+4904C>G) c.2235G>C (p.Arg745=) c.2139G>C (p.Arg713=) c.-200G>C (n.-200G>C) c.2262G>C (p.Arg754=) c.2166G>C (p.Arg722=) c.2106G>C (p.Arg702=) c.2010G>C (p.Arg670=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048412C>T	CA450261885	CUL7,KLC4	c.1983G>A (p.Arg661=) n.2266G>A c.2079G>A (p.Arg693=) n.2282G>A n.2317G>A c.475G>A c.-553+4904C>T (n.-553+4904C>T) c.2235G>A (p.Arg745=) c.2139G>A (p.Arg713=) c.-200G>A (n.-200G>A) c.2262G>A (p.Arg754=) c.2166G>A (p.Arg722=) c.2106G>A (p.Arg702=) c.2010G>A (p.Arg670=)	dbSNP gnomAD v4
6	g.43048413C>A	CA364220164	CUL7,KLC4	c.1982G>T (p.Arg661Leu) n.2265G>T c.2078G>T (p.Arg693Leu) n.2281G>T n.2316G>T c.474G>T c.-553+4905C>A (n.-553+4905C>A) c.2234G>T (p.Arg745Leu) c.2138G>T (p.Arg713Leu) c.-201G>T (n.-201G>T) c.2261G>T (p.Arg754Leu) c.2165G>T (p.Arg722Leu) c.2105G>T (p.Arg702Leu) c.2009G>T (p.Arg670Leu)	dbSNP gnomAD v2 gnomAD v4
6	g.43048413C=	CA1624357356	CUL7,KLC4	c.1982G= (p.Arg661=) n.2265G= c.2078G= (p.Arg693=) n.2281G= n.2316G= c.474G= c.-553+4905C= (n.-553+4905C=) c.2234G= (p.Arg745=) c.2138G= (p.Arg713=) c.-201G= (n.-201G=) c.2261G= (p.Arg754=) c.2165G= (p.Arg722=) c.2105G= (p.Arg702=) c.2009G= (p.Arg670=)
6	g.43048413C>G	CA364220168	CUL7,KLC4	c.1982G>C (p.Arg661Pro) n.2265G>C c.2078G>C (p.Arg693Pro) n.2281G>C n.2316G>C c.474G>C c.-553+4905C>G (n.-553+4905C>G) c.2234G>C (p.Arg745Pro) c.2138G>C (p.Arg713Pro) c.-201G>C (n.-201G>C) c.2261G>C (p.Arg754Pro) c.2165G>C (p.Arg722Pro) c.2105G>C (p.Arg702Pro) c.2009G>C (p.Arg670Pro)
6	g.43048413C>T	CA3814029	CUL7,KLC4	c.1982G>A (p.Arg661Gln) n.2265G>A c.2078G>A (p.Arg693Gln) n.2281G>A n.2316G>A c.474G>A c.-553+4905C>T (n.-553+4905C>T) c.2234G>A (p.Arg745Gln) c.2138G>A (p.Arg713Gln) c.-201G>A (n.-201G>A) c.2261G>A (p.Arg754Gln) c.2165G>A (p.Arg722Gln) c.2105G>A (p.Arg702Gln) c.2009G>A (p.Arg670Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048414G>A	CA3814030	CUL7,KLC4	c.1981C>T (p.Arg661Trp) n.2264C>T c.2077C>T (p.Arg693Trp) n.2280C>T n.2315C>T c.473C>T c.-553+4906G>A (n.-553+4906G>A) c.2233C>T (p.Arg745Trp) c.2137C>T (p.Arg713Trp) c.-202C>T (n.-202C>T) c.2260C>T (p.Arg754Trp) c.2164C>T (p.Arg722Trp) c.2104C>T (p.Arg702Trp) c.2008C>T (p.Arg670Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.43048414G>C	CA364220171	CUL7,KLC4	c.1981C>G (p.Arg661Gly) n.2264C>G c.2077C>G (p.Arg693Gly) n.2280C>G n.2315C>G c.473C>G c.-553+4906G>C (n.-553+4906G>C) c.2233C>G (p.Arg745Gly) c.2137C>G (p.Arg713Gly) c.-202C>G (n.-202C>G) c.2260C>G (p.Arg754Gly) c.2164C>G (p.Arg722Gly) c.2104C>G (p.Arg702Gly) c.2008C>G (p.Arg670Gly)	gnomAD v4
6	g.43048414G=	CA1624357357	CUL7,KLC4	c.1981C= (p.Arg661=) n.2264C= c.2077C= (p.Arg693=) n.2280C= n.2315C= c.473C= c.-553+4906G= (n.-553+4906G=) c.2233C= (p.Arg745=) c.2137C= (p.Arg713=) c.-202C= (n.-202C=) c.2260C= (p.Arg754=) c.2164C= (p.Arg722=) c.2104C= (p.Arg702=) c.2008C= (p.Arg670=)
6	g.43048414G>T	CA450261887	CUL7,KLC4	c.1981C>A (p.Arg661=) n.2264C>A c.2077C>A (p.Arg693=) n.2280C>A n.2315C>A c.473C>A c.-553+4906G>T (n.-553+4906G>T) c.2233C>A (p.Arg745=) c.2137C>A (p.Arg713=) c.-202C>A (n.-202C>A) c.2260C>A (p.Arg754=) c.2164C>A (p.Arg722=) c.2104C>A (p.Arg702=) c.2008C>A (p.Arg670=)
6	g.43048422_43048427dup	CA567150902	CUL7,KLC4	c.1976_1981dup (p.Gln660_Arg661insLeuGln) n.2259_2264dup c.2072_2077dup (p.Gln692_Arg693insLeuGln) n.2275_2280dup n.2310_2315dup c.468_473dup c.-553+4914_-553+4919dup (n.-553+4914_-553+4919dup) c.2228_2233dup (p.Gln744_Arg745insLeuGln) c.2132_2137dup (p.Gln712_Arg713insLeuGln) c.-207_-202dup (n.-207_-202dup) c.2255_2260dup (p.Gln753_Arg754insLeuGln) c.2159_2164dup (p.Gln721_Arg722insLeuGln) c.2099_2104dup (p.Gln701_Arg702insLeuGln) c.2003_2008dup (p.Gln669_Arg670insLeuGln)	dbSNP gnomAD v2 gnomAD v4
6	g.43048415C>A	CA364220175	CUL7,KLC4	c.1980G>T (p.Gln660His) n.2263G>T c.2076G>T (p.Gln692His) n.2279G>T n.2314G>T c.472G>T c.-553+4907C>A (n.-553+4907C>A) c.2232G>T (p.Gln744His) c.2136G>T (p.Gln712His) c.-203G>T (n.-203G>T) c.2259G>T (p.Gln753His) c.2163G>T (p.Gln721His) c.2103G>T (p.Gln701His) c.2007G>T (p.Gln669His)
6	g.43048415C>G	CA364220190	CUL7,KLC4	c.1980G>C (p.Gln660His) n.2263G>C c.2076G>C (p.Gln692His) n.2279G>C n.2314G>C c.472G>C c.-553+4907C>G (n.-553+4907C>G) c.2232G>C (p.Gln744His) c.2136G>C (p.Gln712His) c.-203G>C (n.-203G>C) c.2259G>C (p.Gln753His) c.2163G>C (p.Gln721His) c.2103G>C (p.Gln701His) c.2007G>C (p.Gln669His)
6	g.43048415C>T	CA450261889	CUL7,KLC4	c.1980G>A (p.Gln660=) n.2263G>A c.2076G>A (p.Gln692=) n.2279G>A n.2314G>A c.472G>A c.-553+4907C>T (n.-553+4907C>T) c.2232G>A (p.Gln744=) c.2136G>A (p.Gln712=) c.-203G>A (n.-203G>A) c.2259G>A (p.Gln753=) c.2163G>A (p.Gln721=) c.2103G>A (p.Gln701=) c.2007G>A (p.Gln669=)
6	g.43048416T>A	CA364220205	CUL7,KLC4	c.1979A>T (p.Gln660Leu) n.2262A>T c.2075A>T (p.Gln692Leu) n.2278A>T n.2313A>T c.471A>T c.-553+4908T>A (n.-553+4908T>A) c.2231A>T (p.Gln744Leu) c.2135A>T (p.Gln712Leu) c.-204A>T (n.-204A>T) c.2258A>T (p.Gln753Leu) c.2162A>T (p.Gln721Leu) c.2102A>T (p.Gln701Leu) c.2006A>T (p.Gln669Leu)
6	g.43048416T>C	CA364220207	CUL7,KLC4	c.1979A>G (p.Gln660Arg) n.2262A>G c.2075A>G (p.Gln692Arg) n.2278A>G n.2313A>G c.471A>G c.-553+4908T>C (n.-553+4908T>C) c.2231A>G (p.Gln744Arg) c.2135A>G (p.Gln712Arg) c.-204A>G (n.-204A>G) c.2258A>G (p.Gln753Arg) c.2162A>G (p.Gln721Arg) c.2102A>G (p.Gln701Arg) c.2006A>G (p.Gln669Arg)	dbSNP
6	g.43048416T>G	CA364220219	CUL7,KLC4	c.1979A>C (p.Gln660Pro) n.2262A>C c.2075A>C (p.Gln692Pro) n.2278A>C n.2313A>C c.471A>C c.-553+4908T>G (n.-553+4908T>G) c.2231A>C (p.Gln744Pro) c.2135A>C (p.Gln712Pro) c.-204A>C (n.-204A>C) c.2258A>C (p.Gln753Pro) c.2162A>C (p.Gln721Pro) c.2102A>C (p.Gln701Pro) c.2006A>C (p.Gln669Pro)	gnomAD v4
6	g.43048416T=	CA1624357358	CUL7,KLC4	c.1979A= (p.Gln660=) n.2262A= c.2075A= (p.Gln692=) n.2278A= n.2313A= c.471A= c.-553+4908T= (n.-553+4908T=) c.2231A= (p.Gln744=) c.2135A= (p.Gln712=) c.-204A= (n.-204A=) c.2258A= (p.Gln753=) c.2162A= (p.Gln721=) c.2102A= (p.Gln701=) c.2006A= (p.Gln669=)
6	g.43048417G>A	CA364220222	CUL7,KLC4	c.1978C>T (p.Gln660Ter) n.2261C>T c.2074C>T (p.Gln692Ter) n.2277C>T n.2312C>T c.470C>T c.-553+4909G>A (n.-553+4909G>A) c.2230C>T (p.Gln744Ter) c.2134C>T (p.Gln712Ter) c.-205C>T (n.-205C>T) c.2257C>T (p.Gln753Ter) c.2161C>T (p.Gln721Ter) c.2101C>T (p.Gln701Ter) c.2005C>T (p.Gln669Ter)	dbSNP gnomAD v3 gnomAD v4
6	g.43048417G>C	CA364220225	CUL7,KLC4	c.1978C>G (p.Gln660Glu) n.2261C>G c.2074C>G (p.Gln692Glu) n.2277C>G n.2312C>G c.470C>G c.-553+4909G>C (n.-553+4909G>C) c.2230C>G (p.Gln744Glu) c.2134C>G (p.Gln712Glu) c.-205C>G (n.-205C>G) c.2257C>G (p.Gln753Glu) c.2161C>G (p.Gln721Glu) c.2101C>G (p.Gln701Glu) c.2005C>G (p.Gln669Glu)
6	g.43048417G>T	CA364220227	CUL7,KLC4	c.1978C>A (p.Gln660Lys) n.2261C>A c.2074C>A (p.Gln692Lys) n.2277C>A n.2312C>A c.470C>A c.-553+4909G>T (n.-553+4909G>T) c.2230C>A (p.Gln744Lys) c.2134C>A (p.Gln712Lys) c.-205C>A (n.-205C>A) c.2257C>A (p.Gln753Lys) c.2161C>A (p.Gln721Lys) c.2101C>A (p.Gln701Lys) c.2005C>A (p.Gln669Lys)
6	g.43048418C>A	CA450261893	CUL7,KLC4	c.1977G>T (p.Leu659=) n.2260G>T c.2073G>T (p.Leu691=) n.2276G>T n.2311G>T c.469G>T c.-553+4910C>A (n.-553+4910C>A) c.2229G>T (p.Leu743=) c.2133G>T (p.Leu711=) c.-206G>T (n.-206G>T) c.2256G>T (p.Leu752=) c.2160G>T (p.Leu720=) c.2100G>T (p.Leu700=) c.2004G>T (p.Leu668=)
6	g.43048418C=	CA1624357359	CUL7,KLC4	c.1977G= (p.Leu659=) n.2260G= c.2073G= (p.Leu691=) n.2276G= n.2311G= c.469G= c.-553+4910C= (n.-553+4910C=) c.2229G= (p.Leu743=) c.2133G= (p.Leu711=) c.-206G= (n.-206G=) c.2256G= (p.Leu752=) c.2160G= (p.Leu720=) c.2100G= (p.Leu700=) c.2004G= (p.Leu668=)
6	g.43048418C>G	CA450261894	CUL7,KLC4	c.1977G>C (p.Leu659=) n.2260G>C c.2073G>C (p.Leu691=) n.2276G>C n.2311G>C c.469G>C c.-553+4910C>G (n.-553+4910C>G) c.2229G>C (p.Leu743=) c.2133G>C (p.Leu711=) c.-206G>C (n.-206G>C) c.2256G>C (p.Leu752=) c.2160G>C (p.Leu720=) c.2100G>C (p.Leu700=) c.2004G>C (p.Leu668=)
6	g.43048418C>T	CA3814031	CUL7,KLC4	c.1977G>A (p.Leu659=) n.2260G>A c.2073G>A (p.Leu691=) n.2276G>A n.2311G>A c.469G>A c.-553+4910C>T (n.-553+4910C>T) c.2229G>A (p.Leu743=) c.2133G>A (p.Leu711=) c.-206G>A (n.-206G>A) c.2256G>A (p.Leu752=) c.2160G>A (p.Leu720=) c.2100G>A (p.Leu700=) c.2004G>A (p.Leu668=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048419A>C	CA364220238	CUL7,KLC4	c.1976T>G (p.Leu659Arg) n.2259T>G c.2072T>G (p.Leu691Arg) n.2275T>G n.2310T>G c.468T>G c.-553+4911A>C (n.-553+4911A>C) c.2228T>G (p.Leu743Arg) c.2132T>G (p.Leu711Arg) c.-207T>G (n.-207T>G) c.2255T>G (p.Leu752Arg) c.2159T>G (p.Leu720Arg) c.2099T>G (p.Leu700Arg) c.2003T>G (p.Leu668Arg)
6	g.43048419A>G	CA364220235	CUL7,KLC4	c.1976T>C (p.Leu659Pro) n.2259T>C c.2072T>C (p.Leu691Pro) n.2275T>C n.2310T>C c.468T>C c.-553+4911A>G (n.-553+4911A>G) c.2228T>C (p.Leu743Pro) c.2132T>C (p.Leu711Pro) c.-207T>C (n.-207T>C) c.2255T>C (p.Leu752Pro) c.2159T>C (p.Leu720Pro) c.2099T>C (p.Leu700Pro) c.2003T>C (p.Leu668Pro)	gnomAD v4
6	g.43048419A>T	CA364220232	CUL7,KLC4	c.1976T>A (p.Leu659Gln) n.2259T>A c.2072T>A (p.Leu691Gln) n.2275T>A n.2310T>A c.468T>A c.-553+4911A>T (n.-553+4911A>T) c.2228T>A (p.Leu743Gln) c.2132T>A (p.Leu711Gln) c.-207T>A (n.-207T>A) c.2255T>A (p.Leu752Gln) c.2159T>A (p.Leu720Gln) c.2099T>A (p.Leu700Gln) c.2003T>A (p.Leu668Gln)
6	g.43048420G>A	CA450261895	CUL7,KLC4	c.1975C>T (p.Leu659=) n.2258C>T c.2071C>T (p.Leu691=) n.2274C>T n.2309C>T c.467C>T c.-553+4912G>A (n.-553+4912G>A) c.2227C>T (p.Leu743=) c.2131C>T (p.Leu711=) c.-208C>T (n.-208C>T) c.2254C>T (p.Leu752=) c.2158C>T (p.Leu720=) c.2098C>T (p.Leu700=) c.2002C>T (p.Leu668=)	dbSNP gnomAD v2 gnomAD v4
6	g.43048420G>C	CA364220242	CUL7,KLC4	c.1975C>G (p.Leu659Val) n.2258C>G c.2071C>G (p.Leu691Val) n.2274C>G n.2309C>G c.467C>G c.-553+4912G>C (n.-553+4912G>C) c.2227C>G (p.Leu743Val) c.2131C>G (p.Leu711Val) c.-208C>G (n.-208C>G) c.2254C>G (p.Leu752Val) c.2158C>G (p.Leu720Val) c.2098C>G (p.Leu700Val) c.2002C>G (p.Leu668Val)	gnomAD v4
6	g.43048420G=	CA1624357360	CUL7,KLC4	c.1975C= (p.Leu659=) n.2258C= c.2071C= (p.Leu691=) n.2274C= n.2309C= c.467C= c.-553+4912G= (n.-553+4912G=) c.2227C= (p.Leu743=) c.2131C= (p.Leu711=) c.-208C= (n.-208C=) c.2254C= (p.Leu752=) c.2158C= (p.Leu720=) c.2098C= (p.Leu700=) c.2002C= (p.Leu668=)
6	g.43048420G>T	CA364220245	CUL7,KLC4	c.1975C>A (p.Leu659Met) n.2258C>A c.2071C>A (p.Leu691Met) n.2274C>A n.2309C>A c.467C>A c.-553+4912G>T (n.-553+4912G>T) c.2227C>A (p.Leu743Met) c.2131C>A (p.Leu711Met) c.-208C>A (n.-208C>A) c.2254C>A (p.Leu752Met) c.2158C>A (p.Leu720Met) c.2098C>A (p.Leu700Met) c.2002C>A (p.Leu668Met)
6	g.43048421C>A	CA364220247	CUL7,KLC4	c.1974G>T (p.Gln658His) n.2257G>T c.2070G>T (p.Gln690His) n.2273G>T n.2308G>T c.466G>T c.-553+4913C>A (n.-553+4913C>A) c.2226G>T (p.Gln742His) c.2130G>T (p.Gln710His) c.-209G>T (n.-209G>T) c.2253G>T (p.Gln751His) c.2157G>T (p.Gln719His) c.2097G>T (p.Gln699His) c.2001G>T (p.Gln667His)
6	g.43048421C>G	CA364220249	CUL7,KLC4	c.1974G>C (p.Gln658His) n.2257G>C c.2070G>C (p.Gln690His) n.2273G>C n.2308G>C c.466G>C c.-553+4913C>G (n.-553+4913C>G) c.2226G>C (p.Gln742His) c.2130G>C (p.Gln710His) c.-209G>C (n.-209G>C) c.2253G>C (p.Gln751His) c.2157G>C (p.Gln719His) c.2097G>C (p.Gln699His) c.2001G>C (p.Gln667His)
6	g.43048421C>T	CA450261899	CUL7,KLC4	c.1974G>A (p.Gln658=) n.2257G>A c.2070G>A (p.Gln690=) n.2273G>A n.2308G>A c.466G>A c.-553+4913C>T (n.-553+4913C>T) c.2226G>A (p.Gln742=) c.2130G>A (p.Gln710=) c.-209G>A (n.-209G>A) c.2253G>A (p.Gln751=) c.2157G>A (p.Gln719=) c.2097G>A (p.Gln699=) c.2001G>A (p.Gln667=)
6	g.43048422T>A	CA364220253	CUL7,KLC4	c.1973A>T (p.Gln658Leu) n.2256A>T c.2069A>T (p.Gln690Leu) n.2272A>T n.2307A>T c.465A>T c.-553+4914T>A (n.-553+4914T>A) c.2225A>T (p.Gln742Leu) c.2129A>T (p.Gln710Leu) c.-210A>T (n.-210A>T) c.2252A>T (p.Gln751Leu) c.2156A>T (p.Gln719Leu) c.2096A>T (p.Gln699Leu) c.2000A>T (p.Gln667Leu)
6	g.43048422T>C	CA364220256	CUL7,KLC4	c.1973A>G (p.Gln658Arg) n.2256A>G c.2069A>G (p.Gln690Arg) n.2272A>G n.2307A>G c.465A>G c.-553+4914T>C (n.-553+4914T>C) c.2225A>G (p.Gln742Arg) c.2129A>G (p.Gln710Arg) c.-210A>G (n.-210A>G) c.2252A>G (p.Gln751Arg) c.2156A>G (p.Gln719Arg) c.2096A>G (p.Gln699Arg) c.2000A>G (p.Gln667Arg)	gnomAD v4
6	g.43048422T>G	CA364220257	CUL7,KLC4	c.1973A>C (p.Gln658Pro) n.2256A>C c.2069A>C (p.Gln690Pro) n.2272A>C n.2307A>C c.465A>C c.-553+4914T>G (n.-553+4914T>G) c.2225A>C (p.Gln742Pro) c.2129A>C (p.Gln710Pro) c.-210A>C (n.-210A>C) c.2252A>C (p.Gln751Pro) c.2156A>C (p.Gln719Pro) c.2096A>C (p.Gln699Pro) c.2000A>C (p.Gln667Pro)
6	g.43048423G>A	CA364220260	CUL7,KLC4	c.1972C>T (p.Gln658Ter) n.2255C>T c.2068C>T (p.Gln690Ter) n.2271C>T n.2306C>T c.464C>T c.-553+4915G>A (n.-553+4915G>A) c.2224C>T (p.Gln742Ter) c.2128C>T (p.Gln710Ter) c.-211C>T (n.-211C>T) c.2251C>T (p.Gln751Ter) c.2155C>T (p.Gln719Ter) c.2095C>T (p.Gln699Ter) c.1999C>T (p.Gln667Ter)
6	g.43048423G>C	CA364220262	CUL7,KLC4	c.1972C>G (p.Gln658Glu) n.2255C>G c.2068C>G (p.Gln690Glu) n.2271C>G n.2306C>G c.464C>G c.-553+4915G>C (n.-553+4915G>C) c.2224C>G (p.Gln742Glu) c.2128C>G (p.Gln710Glu) c.-211C>G (n.-211C>G) c.2251C>G (p.Gln751Glu) c.2155C>G (p.Gln719Glu) c.2095C>G (p.Gln699Glu) c.1999C>G (p.Gln667Glu)
6	g.43048423G>T	CA364220266	CUL7,KLC4	c.1972C>A (p.Gln658Lys) n.2255C>A c.2068C>A (p.Gln690Lys) n.2271C>A n.2306C>A c.464C>A c.-553+4915G>T (n.-553+4915G>T) c.2224C>A (p.Gln742Lys) c.2128C>A (p.Gln710Lys) c.-211C>A (n.-211C>A) c.2251C>A (p.Gln751Lys) c.2155C>A (p.Gln719Lys) c.2095C>A (p.Gln699Lys) c.1999C>A (p.Gln667Lys)
6	g.43048424C>A	CA450261905	CUL7,KLC4	c.1971G>T (p.Leu657=) n.2254G>T c.2067G>T (p.Leu689=) n.2270G>T n.2305G>T c.463G>T c.-553+4916C>A (n.-553+4916C>A) c.2223G>T (p.Leu741=) c.2127G>T (p.Leu709=) c.-212G>T (n.-212G>T) c.2250G>T (p.Leu750=) c.2154G>T (p.Leu718=) c.2094G>T (p.Leu698=) c.1998G>T (p.Leu666=)
6	g.43048424C>G	CA450261906	CUL7,KLC4	c.1971G>C (p.Leu657=) n.2254G>C c.2067G>C (p.Leu689=) n.2270G>C n.2305G>C c.463G>C c.-553+4916C>G (n.-553+4916C>G) c.2223G>C (p.Leu741=) c.2127G>C (p.Leu709=) c.-212G>C (n.-212G>C) c.2250G>C (p.Leu750=) c.2154G>C (p.Leu718=) c.2094G>C (p.Leu698=) c.1998G>C (p.Leu666=)
6	g.43048424C>T	CA450261904	CUL7,KLC4	c.1971G>A (p.Leu657=) n.2254G>A c.2067G>A (p.Leu689=) n.2270G>A n.2305G>A c.463G>A c.-553+4916C>T (n.-553+4916C>T) c.2223G>A (p.Leu741=) c.2127G>A (p.Leu709=) c.-212G>A (n.-212G>A) c.2250G>A (p.Leu750=) c.2154G>A (p.Leu718=) c.2094G>A (p.Leu698=) c.1998G>A (p.Leu666=)
6	g.43048425A>C	CA364220268	CUL7,KLC4	c.1970T>G (p.Leu657Arg) n.2253T>G c.2066T>G (p.Leu689Arg) n.2269T>G n.2304T>G c.462T>G c.-553+4917A>C (n.-553+4917A>C) c.2222T>G (p.Leu741Arg) c.2126T>G (p.Leu709Arg) c.-213T>G (n.-213T>G) c.2249T>G (p.Leu750Arg) c.2153T>G (p.Leu718Arg) c.2093T>G (p.Leu698Arg) c.1997T>G (p.Leu666Arg)
6	g.43048425A>G	CA364220270	CUL7,KLC4	c.1970T>C (p.Leu657Pro) n.2253T>C c.2066T>C (p.Leu689Pro) n.2269T>C n.2304T>C c.462T>C c.-553+4917A>G (n.-553+4917A>G) c.2222T>C (p.Leu741Pro) c.2126T>C (p.Leu709Pro) c.-213T>C (n.-213T>C) c.2249T>C (p.Leu750Pro) c.2153T>C (p.Leu718Pro) c.2093T>C (p.Leu698Pro) c.1997T>C (p.Leu666Pro)
6	g.43048425A>T	CA364220271	CUL7,KLC4	c.1970T>A (p.Leu657Gln) n.2253T>A c.2066T>A (p.Leu689Gln) n.2269T>A n.2304T>A c.462T>A c.-553+4917A>T (n.-553+4917A>T) c.2222T>A (p.Leu741Gln) c.2126T>A (p.Leu709Gln) c.-213T>A (n.-213T>A) c.2249T>A (p.Leu750Gln) c.2153T>A (p.Leu718Gln) c.2093T>A (p.Leu698Gln) c.1997T>A (p.Leu666Gln)
6	g.43048426G>A	CA450261908	CUL7,KLC4	c.1969C>T (p.Leu657=) n.2252C>T c.2065C>T (p.Leu689=) n.2268C>T n.2303C>T c.461C>T c.-553+4918G>A (n.-553+4918G>A) c.2221C>T (p.Leu741=) c.2125C>T (p.Leu709=) c.-214C>T (n.-214C>T) c.2248C>T (p.Leu750=) c.2152C>T (p.Leu718=) c.2092C>T (p.Leu698=) c.1996C>T (p.Leu666=)
6	g.43048426G>C	CA364220273	CUL7,KLC4	c.1969C>G (p.Leu657Val) n.2252C>G c.2065C>G (p.Leu689Val) n.2268C>G n.2303C>G c.461C>G c.-553+4918G>C (n.-553+4918G>C) c.2221C>G (p.Leu741Val) c.2125C>G (p.Leu709Val) c.-214C>G (n.-214C>G) c.2248C>G (p.Leu750Val) c.2152C>G (p.Leu718Val) c.2092C>G (p.Leu698Val) c.1996C>G (p.Leu666Val)	gnomAD v4
6	g.43048426G>T	CA364220275	CUL7,KLC4	c.1969C>A (p.Leu657Met) n.2252C>A c.2065C>A (p.Leu689Met) n.2268C>A n.2303C>A c.461C>A c.-553+4918G>T (n.-553+4918G>T) c.2221C>A (p.Leu741Met) c.2125C>A (p.Leu709Met) c.-214C>A (n.-214C>A) c.2248C>A (p.Leu750Met) c.2152C>A (p.Leu718Met) c.2092C>A (p.Leu698Met) c.1996C>A (p.Leu666Met)
6	g.43048427C>A	CA450261911	CUL7,KLC4	c.1968G>T (p.Leu656=) n.2251G>T c.2064G>T (p.Leu688=) n.2267G>T n.2302G>T c.460G>T c.-553+4919C>A (n.-553+4919C>A) c.2220G>T (p.Leu740=) c.2124G>T (p.Leu708=) c.-215G>T (n.-215G>T) c.2247G>T (p.Leu749=) c.2151G>T (p.Leu717=) c.2091G>T (p.Leu697=) c.1995G>T (p.Leu665=)
6	g.43048427C=	CA1624357361	CUL7,KLC4	c.1968G= (p.Leu656=) n.2251G= c.2064G= (p.Leu688=) n.2267G= n.2302G= c.460G= c.-553+4919C= (n.-553+4919C=) c.2220G= (p.Leu740=) c.2124G= (p.Leu708=) c.-215G= (n.-215G=) c.2247G= (p.Leu749=) c.2151G= (p.Leu717=) c.2091G= (p.Leu697=) c.1995G= (p.Leu665=)
6	g.43048427C>G	CA450261912	CUL7,KLC4	c.1968G>C (p.Leu656=) n.2251G>C c.2064G>C (p.Leu688=) n.2267G>C n.2302G>C c.460G>C c.-553+4919C>G (n.-553+4919C>G) c.2220G>C (p.Leu740=) c.2124G>C (p.Leu708=) c.-215G>C (n.-215G>C) c.2247G>C (p.Leu749=) c.2151G>C (p.Leu717=) c.2091G>C (p.Leu697=) c.1995G>C (p.Leu665=)
6	g.43048427C>T	CA3814032	CUL7,KLC4	c.1968G>A (p.Leu656=) n.2251G>A c.2064G>A (p.Leu688=) n.2267G>A n.2302G>A c.460G>A c.-553+4919C>T (n.-553+4919C>T) c.2220G>A (p.Leu740=) c.2124G>A (p.Leu708=) c.-215G>A (n.-215G>A) c.2247G>A (p.Leu749=) c.2151G>A (p.Leu717=) c.2091G>A (p.Leu697=) c.1995G>A (p.Leu665=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048427dup	CA2770820624	CUL7,KLC4	c.1968dup (p.Leu657AlafsTer23) n.2251dup c.2064dup (p.Leu689AlafsTer23) n.2267dup n.2302dup c.460dup c.-553+4919dup (n.-553+4919dup) c.2220dup (p.Leu741AlafsTer23) c.2124dup (p.Leu709AlafsTer23) c.-215dup (n.-215dup) c.2247dup (p.Leu750AlafsTer23) c.2151dup (p.Leu718AlafsTer23) c.2091dup (p.Leu698AlafsTer23) c.1995dup (p.Leu666AlafsTer23)
6	g.43048428A>C	CA364220287	CUL7,KLC4	c.1967T>G (p.Leu656Arg) n.2250T>G c.2063T>G (p.Leu688Arg) n.2266T>G n.2301T>G c.459T>G c.-553+4920A>C (n.-553+4920A>C) c.2219T>G (p.Leu740Arg) c.2123T>G (p.Leu708Arg) c.-216T>G (n.-216T>G) c.2246T>G (p.Leu749Arg) c.2150T>G (p.Leu717Arg) c.2090T>G (p.Leu697Arg) c.1994T>G (p.Leu665Arg)
6	g.43048428A>G	CA364220284	CUL7,KLC4	c.1967T>C (p.Leu656Pro) n.2250T>C c.2063T>C (p.Leu688Pro) n.2266T>C n.2301T>C c.459T>C c.-553+4920A>G (n.-553+4920A>G) c.2219T>C (p.Leu740Pro) c.2123T>C (p.Leu708Pro) c.-216T>C (n.-216T>C) c.2246T>C (p.Leu749Pro) c.2150T>C (p.Leu717Pro) c.2090T>C (p.Leu697Pro) c.1994T>C (p.Leu665Pro)
6	g.43048428A>T	CA364220285	CUL7,KLC4	c.1967T>A (p.Leu656Gln) n.2250T>A c.2063T>A (p.Leu688Gln) n.2266T>A n.2301T>A c.459T>A c.-553+4920A>T (n.-553+4920A>T) c.2219T>A (p.Leu740Gln) c.2123T>A (p.Leu708Gln) c.-216T>A (n.-216T>A) c.2246T>A (p.Leu749Gln) c.2150T>A (p.Leu717Gln) c.2090T>A (p.Leu697Gln) c.1994T>A (p.Leu665Gln)
6	g.43048429G>A	CA450261916	CUL7,KLC4	c.1966C>T (p.Leu656=) n.2249C>T c.2062C>T (p.Leu688=) n.2265C>T n.2300C>T c.458C>T c.-553+4921G>A (n.-553+4921G>A) c.2218C>T (p.Leu740=) c.2122C>T (p.Leu708=) c.-217C>T (n.-217C>T) c.2245C>T (p.Leu749=) c.2149C>T (p.Leu717=) c.2089C>T (p.Leu697=) c.1993C>T (p.Leu665=)	gnomAD v4
6	g.43048429G>C	CA364220291	CUL7,KLC4	c.1966C>G (p.Leu656Val) n.2249C>G c.2062C>G (p.Leu688Val) n.2265C>G n.2300C>G c.458C>G c.-553+4921G>C (n.-553+4921G>C) c.2218C>G (p.Leu740Val) c.2122C>G (p.Leu708Val) c.-217C>G (n.-217C>G) c.2245C>G (p.Leu749Val) c.2149C>G (p.Leu717Val) c.2089C>G (p.Leu697Val) c.1993C>G (p.Leu665Val)
6	g.43048429G>T	CA364220292	CUL7,KLC4	c.1966C>A (p.Leu656Met) n.2249C>A c.2062C>A (p.Leu688Met) n.2265C>A n.2300C>A c.458C>A c.-553+4921G>T (n.-553+4921G>T) c.2218C>A (p.Leu740Met) c.2122C>A (p.Leu708Met) c.-217C>A (n.-217C>A) c.2245C>A (p.Leu749Met) c.2149C>A (p.Leu717Met) c.2089C>A (p.Leu697Met) c.1993C>A (p.Leu665Met)
6	g.43048430G>A	CA450261917	CUL7,KLC4	c.1965C>T (p.Leu655=) n.2248C>T c.2061C>T (p.Leu687=) n.2264C>T n.2299C>T c.457C>T c.-553+4922G>A (n.-553+4922G>A) c.2217C>T (p.Leu739=) c.2121C>T (p.Leu707=) c.-218C>T (n.-218C>T) c.2244C>T (p.Leu748=) c.2148C>T (p.Leu716=) c.2088C>T (p.Leu696=) c.1992C>T (p.Leu664=)
6	g.43048430G>C	CA450261918	CUL7,KLC4	c.1965C>G (p.Leu655=) n.2248C>G c.2061C>G (p.Leu687=) n.2264C>G n.2299C>G c.457C>G c.-553+4922G>C (n.-553+4922G>C) c.2217C>G (p.Leu739=) c.2121C>G (p.Leu707=) c.-218C>G (n.-218C>G) c.2244C>G (p.Leu748=) c.2148C>G (p.Leu716=) c.2088C>G (p.Leu696=) c.1992C>G (p.Leu664=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048430G=	CA1624357362	CUL7,KLC4	c.1965C= (p.Leu655=) n.2248C= c.2061C= (p.Leu687=) n.2264C= n.2299C= c.457C= c.-553+4922G= (n.-553+4922G=) c.2217C= (p.Leu739=) c.2121C= (p.Leu707=) c.-218C= (n.-218C=) c.2244C= (p.Leu748=) c.2148C= (p.Leu716=) c.2088C= (p.Leu696=) c.1992C= (p.Leu664=)
6	g.43048430G>T	CA450261920	CUL7,KLC4	c.1965C>A (p.Leu655=) n.2248C>A c.2061C>A (p.Leu687=) n.2264C>A n.2299C>A c.457C>A c.-553+4922G>T (n.-553+4922G>T) c.2217C>A (p.Leu739=) c.2121C>A (p.Leu707=) c.-218C>A (n.-218C>A) c.2244C>A (p.Leu748=) c.2148C>A (p.Leu716=) c.2088C>A (p.Leu696=) c.1992C>A (p.Leu664=)
6	g.43048431A=	CA1624357363	CUL7,KLC4	c.1964T= (p.Leu655=) n.2247T= c.2060T= (p.Leu687=) n.2263T= n.2298T= c.456T= c.-553+4923A= (n.-553+4923A=) c.2216T= (p.Leu739=) c.2120T= (p.Leu707=) c.-219T= (n.-219T=) c.2243T= (p.Leu748=) c.2147T= (p.Leu716=) c.2087T= (p.Leu696=) c.1991T= (p.Leu664=)
6	g.43048431A>C	CA364220293	CUL7,KLC4	c.1964T>G (p.Leu655Arg) n.2247T>G c.2060T>G (p.Leu687Arg) n.2263T>G n.2298T>G c.456T>G c.-553+4923A>C (n.-553+4923A>C) c.2216T>G (p.Leu739Arg) c.2120T>G (p.Leu707Arg) c.-219T>G (n.-219T>G) c.2243T>G (p.Leu748Arg) c.2147T>G (p.Leu716Arg) c.2087T>G (p.Leu696Arg) c.1991T>G (p.Leu664Arg)	dbSNP
6	g.43048431A>G	CA364220295	CUL7,KLC4	c.1964T>C (p.Leu655Pro) n.2247T>C c.2060T>C (p.Leu687Pro) n.2263T>C n.2298T>C c.456T>C c.-553+4923A>G (n.-553+4923A>G) c.2216T>C (p.Leu739Pro) c.2120T>C (p.Leu707Pro) c.-219T>C (n.-219T>C) c.2243T>C (p.Leu748Pro) c.2147T>C (p.Leu716Pro) c.2087T>C (p.Leu696Pro) c.1991T>C (p.Leu664Pro)
6	g.43048431A>T	CA364220297	CUL7,KLC4	c.1964T>A (p.Leu655His) n.2247T>A c.2060T>A (p.Leu687His) n.2263T>A n.2298T>A c.456T>A c.-553+4923A>T (n.-553+4923A>T) c.2216T>A (p.Leu739His) c.2120T>A (p.Leu707His) c.-219T>A (n.-219T>A) c.2243T>A (p.Leu748His) c.2147T>A (p.Leu716His) c.2087T>A (p.Leu696His) c.1991T>A (p.Leu664His)
6	g.43048432G>A	CA3814033	CUL7,KLC4	c.1963C>T (p.Leu655Phe) n.2246C>T c.2059C>T (p.Leu687Phe) n.2262C>T n.2297C>T c.455C>T c.-553+4924G>A (n.-553+4924G>A) c.2215C>T (p.Leu739Phe) c.2119C>T (p.Leu707Phe) c.-220C>T (n.-220C>T) c.2242C>T (p.Leu748Phe) c.2146C>T (p.Leu716Phe) c.2086C>T (p.Leu696Phe) c.1990C>T (p.Leu664Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048432G>C	CA364220313	CUL7,KLC4	c.1963C>G (p.Leu655Val) n.2246C>G c.2059C>G (p.Leu687Val) n.2262C>G n.2297C>G c.455C>G c.-553+4924G>C (n.-553+4924G>C) c.2215C>G (p.Leu739Val) c.2119C>G (p.Leu707Val) c.-220C>G (n.-220C>G) c.2242C>G (p.Leu748Val) c.2146C>G (p.Leu716Val) c.2086C>G (p.Leu696Val) c.1990C>G (p.Leu664Val)
6	g.43048432G=	CA1624357364	CUL7,KLC4	c.1963C= (p.Leu655=) n.2246C= c.2059C= (p.Leu687=) n.2262C= n.2297C= c.455C= c.-553+4924G= (n.-553+4924G=) c.2215C= (p.Leu739=) c.2119C= (p.Leu707=) c.-220C= (n.-220C=) c.2242C= (p.Leu748=) c.2146C= (p.Leu716=) c.2086C= (p.Leu696=) c.1990C= (p.Leu664=)
6	g.43048432G>T	CA364220315	CUL7,KLC4	c.1963C>A (p.Leu655Ile) n.2246C>A c.2059C>A (p.Leu687Ile) n.2262C>A n.2297C>A c.455C>A c.-553+4924G>T (n.-553+4924G>T) c.2215C>A (p.Leu739Ile) c.2119C>A (p.Leu707Ile) c.-220C>A (n.-220C>A) c.2242C>A (p.Leu748Ile) c.2146C>A (p.Leu716Ile) c.2086C>A (p.Leu696Ile) c.1990C>A (p.Leu664Ile)
6	g.43048433T>A	CA450261922	CUL7,KLC4	c.1962A>T (p.Pro654=) n.2245A>T c.2058A>T (p.Pro686=) n.2261A>T n.2296A>T c.454A>T c.-553+4925T>A (n.-553+4925T>A) c.2214A>T (p.Pro738=) c.2118A>T (p.Pro706=) c.-221A>T (n.-221A>T) c.2241A>T (p.Pro747=) c.2145A>T (p.Pro715=) c.2085A>T (p.Pro695=) c.1989A>T (p.Pro663=)
6	g.43048433T>C	CA450261924	CUL7,KLC4	c.1962A>G (p.Pro654=) n.2245A>G c.2058A>G (p.Pro686=) n.2261A>G n.2296A>G c.454A>G c.-553+4925T>C (n.-553+4925T>C) c.2214A>G (p.Pro738=) c.2118A>G (p.Pro706=) c.-221A>G (n.-221A>G) c.2241A>G (p.Pro747=) c.2145A>G (p.Pro715=) c.2085A>G (p.Pro695=) c.1989A>G (p.Pro663=)	dbSNP
6	g.43048433T>G	CA450261926	CUL7,KLC4	c.1962A>C (p.Pro654=) n.2245A>C c.2058A>C (p.Pro686=) n.2261A>C n.2296A>C c.454A>C c.-553+4925T>G (n.-553+4925T>G) c.2214A>C (p.Pro738=) c.2118A>C (p.Pro706=) c.-221A>C (n.-221A>C) c.2241A>C (p.Pro747=) c.2145A>C (p.Pro715=) c.2085A>C (p.Pro695=) c.1989A>C (p.Pro663=)
6	g.43048433T=	CA1624357365	CUL7,KLC4	c.1962A= (p.Pro654=) n.2245A= c.2058A= (p.Pro686=) n.2261A= n.2296A= c.454A= c.-553+4925T= (n.-553+4925T=) c.2214A= (p.Pro738=) c.2118A= (p.Pro706=) c.-221A= (n.-221A=) c.2241A= (p.Pro747=) c.2145A= (p.Pro715=) c.2085A= (p.Pro695=) c.1989A= (p.Pro663=)
6	g.43048434G>A	CA364220319	CUL7,KLC4	c.1961C>T (p.Pro654Leu) n.2244C>T c.2057C>T (p.Pro686Leu) n.2260C>T n.2295C>T c.453C>T c.-553+4926G>A (n.-553+4926G>A) c.2213C>T (p.Pro738Leu) c.2117C>T (p.Pro706Leu) c.-222C>T (n.-222C>T) c.2240C>T (p.Pro747Leu) c.2144C>T (p.Pro715Leu) c.2084C>T (p.Pro695Leu) c.1988C>T (p.Pro663Leu)	dbSNP
6	g.43048434G>C	CA364220321	CUL7,KLC4	c.1961C>G (p.Pro654Arg) n.2244C>G c.2057C>G (p.Pro686Arg) n.2260C>G n.2295C>G c.453C>G c.-553+4926G>C (n.-553+4926G>C) c.2213C>G (p.Pro738Arg) c.2117C>G (p.Pro706Arg) c.-222C>G (n.-222C>G) c.2240C>G (p.Pro747Arg) c.2144C>G (p.Pro715Arg) c.2084C>G (p.Pro695Arg) c.1988C>G (p.Pro663Arg)
6	g.43048434G=	CA1624357366	CUL7,KLC4	c.1961C= (p.Pro654=) n.2244C= c.2057C= (p.Pro686=) n.2260C= n.2295C= c.453C= c.-553+4926G= (n.-553+4926G=) c.2213C= (p.Pro738=) c.2117C= (p.Pro706=) c.-222C= (n.-222C=) c.2240C= (p.Pro747=) c.2144C= (p.Pro715=) c.2084C= (p.Pro695=) c.1988C= (p.Pro663=)
6	g.43048434G>T	CA364220325	CUL7,KLC4	c.1961C>A (p.Pro654Gln) n.2244C>A c.2057C>A (p.Pro686Gln) n.2260C>A n.2295C>A c.453C>A c.-553+4926G>T (n.-553+4926G>T) c.2213C>A (p.Pro738Gln) c.2117C>A (p.Pro706Gln) c.-222C>A (n.-222C>A) c.2240C>A (p.Pro747Gln) c.2144C>A (p.Pro715Gln) c.2084C>A (p.Pro695Gln) c.1988C>A (p.Pro663Gln)
6	g.43048435G>A	CA364220332	CUL7,KLC4	c.1960C>T (p.Pro654Ser) n.2243C>T c.2056C>T (p.Pro686Ser) n.2259C>T n.2294C>T c.452C>T c.-553+4927G>A (n.-553+4927G>A) c.2212C>T (p.Pro738Ser) c.2116C>T (p.Pro706Ser) c.-223C>T (n.-223C>T) c.2239C>T (p.Pro747Ser) c.2143C>T (p.Pro715Ser) c.2083C>T (p.Pro695Ser) c.1987C>T (p.Pro663Ser)	gnomAD v4
6	g.43048435G>C	CA364220329	CUL7,KLC4	c.1960C>G (p.Pro654Ala) n.2243C>G c.2056C>G (p.Pro686Ala) n.2259C>G n.2294C>G c.452C>G c.-553+4927G>C (n.-553+4927G>C) c.2212C>G (p.Pro738Ala) c.2116C>G (p.Pro706Ala) c.-223C>G (n.-223C>G) c.2239C>G (p.Pro747Ala) c.2143C>G (p.Pro715Ala) c.2083C>G (p.Pro695Ala) c.1987C>G (p.Pro663Ala)
6	g.43048435G>T	CA364220331	CUL7,KLC4	c.1960C>A (p.Pro654Thr) n.2243C>A c.2056C>A (p.Pro686Thr) n.2259C>A n.2294C>A c.452C>A c.-553+4927G>T (n.-553+4927G>T) c.2212C>A (p.Pro738Thr) c.2116C>A (p.Pro706Thr) c.-223C>A (n.-223C>A) c.2239C>A (p.Pro747Thr) c.2143C>A (p.Pro715Thr) c.2083C>A (p.Pro695Thr) c.1987C>A (p.Pro663Thr)
6	g.43048436C>A	CA364220336	CUL7,KLC4	c.1959G>T (p.Lys653Asn) n.2242G>T c.2055G>T (p.Lys685Asn) n.2258G>T n.2293G>T c.451G>T c.-553+4928C>A (n.-553+4928C>A) c.2211G>T (p.Lys737Asn) c.2115G>T (p.Lys705Asn) c.-224G>T (n.-224G>T) c.2238G>T (p.Lys746Asn) c.2142G>T (p.Lys714Asn) c.2082G>T (p.Lys694Asn) c.1986G>T (p.Lys662Asn)
6	g.43048436C>G	CA364220339	CUL7,KLC4	c.1959G>C (p.Lys653Asn) n.2242G>C c.2055G>C (p.Lys685Asn) n.2258G>C n.2293G>C c.451G>C c.-553+4928C>G (n.-553+4928C>G) c.2211G>C (p.Lys737Asn) c.2115G>C (p.Lys705Asn) c.-224G>C (n.-224G>C) c.2238G>C (p.Lys746Asn) c.2142G>C (p.Lys714Asn) c.2082G>C (p.Lys694Asn) c.1986G>C (p.Lys662Asn)
6	g.43048436C>T	CA450261930	CUL7,KLC4	c.1959G>A (p.Lys653=) n.2242G>A c.2055G>A (p.Lys685=) n.2258G>A n.2293G>A c.451G>A c.-553+4928C>T (n.-553+4928C>T) c.2211G>A (p.Lys737=) c.2115G>A (p.Lys705=) c.-224G>A (n.-224G>A) c.2238G>A (p.Lys746=) c.2142G>A (p.Lys714=) c.2082G>A (p.Lys694=) c.1986G>A (p.Lys662=)
6	g.43048437T>A	CA364220342	CUL7,KLC4	c.1958A>T (p.Lys653Met) n.2241A>T c.2054A>T (p.Lys685Met) n.2257A>T n.2292A>T c.450A>T c.-553+4929T>A (n.-553+4929T>A) c.2210A>T (p.Lys737Met) c.2114A>T (p.Lys705Met) c.-225A>T (n.-225A>T) c.2237A>T (p.Lys746Met) c.2141A>T (p.Lys714Met) c.2081A>T (p.Lys694Met) c.1985A>T (p.Lys662Met)
6	g.43048437T>C	CA364220345	CUL7,KLC4	c.1958A>G (p.Lys653Arg) n.2241A>G c.2054A>G (p.Lys685Arg) n.2257A>G n.2292A>G c.450A>G c.-553+4929T>C (n.-553+4929T>C) c.2210A>G (p.Lys737Arg) c.2114A>G (p.Lys705Arg) c.-225A>G (n.-225A>G) c.2237A>G (p.Lys746Arg) c.2141A>G (p.Lys714Arg) c.2081A>G (p.Lys694Arg) c.1985A>G (p.Lys662Arg)
6	g.43048437T>G	CA364220351	CUL7,KLC4	c.1958A>C (p.Lys653Thr) n.2241A>C c.2054A>C (p.Lys685Thr) n.2257A>C n.2292A>C c.450A>C c.-553+4929T>G (n.-553+4929T>G) c.2210A>C (p.Lys737Thr) c.2114A>C (p.Lys705Thr) c.-225A>C (n.-225A>C) c.2237A>C (p.Lys746Thr) c.2141A>C (p.Lys714Thr) c.2081A>C (p.Lys694Thr) c.1985A>C (p.Lys662Thr)
6	g.43048438T>A	CA364220354	CUL7,KLC4	c.1957A>T (p.Lys653Ter) n.2240A>T c.2053A>T (p.Lys685Ter) n.2256A>T n.2291A>T c.449A>T c.-553+4930T>A (n.-553+4930T>A) c.2209A>T (p.Lys737Ter) c.2113A>T (p.Lys705Ter) c.-226A>T (n.-226A>T) c.2236A>T (p.Lys746Ter) c.2140A>T (p.Lys714Ter) c.2080A>T (p.Lys694Ter) c.1984A>T (p.Lys662Ter)
6	g.43048438T>C	CA364220359	CUL7,KLC4	c.1957A>G (p.Lys653Glu) n.2240A>G c.2053A>G (p.Lys685Glu) n.2256A>G n.2291A>G c.449A>G c.-553+4930T>C (n.-553+4930T>C) c.2209A>G (p.Lys737Glu) c.2113A>G (p.Lys705Glu) c.-226A>G (n.-226A>G) c.2236A>G (p.Lys746Glu) c.2140A>G (p.Lys714Glu) c.2080A>G (p.Lys694Glu) c.1984A>G (p.Lys662Glu)
6	g.43048438T>G	CA364220360	CUL7,KLC4	c.1957A>C (p.Lys653Gln) n.2240A>C c.2053A>C (p.Lys685Gln) n.2256A>C n.2291A>C c.449A>C c.-553+4930T>G (n.-553+4930T>G) c.2209A>C (p.Lys737Gln) c.2113A>C (p.Lys705Gln) c.-226A>C (n.-226A>C) c.2236A>C (p.Lys746Gln) c.2140A>C (p.Lys714Gln) c.2080A>C (p.Lys694Gln) c.1984A>C (p.Lys662Gln)
6	g.43048439G>A	CA450261932	CUL7,KLC4	c.1956C>T (p.Val652=) n.2239C>T c.2052C>T (p.Val684=) n.2255C>T n.2290C>T c.448C>T c.-553+4931G>A (n.-553+4931G>A) c.2208C>T (p.Val736=) c.2112C>T (p.Val704=) c.-227C>T (n.-227C>T) c.2235C>T (p.Val745=) c.2139C>T (p.Val713=) c.2079C>T (p.Val693=) c.1983C>T (p.Val661=)	dbSNP gnomAD v3 gnomAD v4
6	g.43048439G>C	CA450261933	CUL7,KLC4	c.1956C>G (p.Val652=) n.2239C>G c.2052C>G (p.Val684=) n.2255C>G n.2290C>G c.448C>G c.-553+4931G>C (n.-553+4931G>C) c.2208C>G (p.Val736=) c.2112C>G (p.Val704=) c.-227C>G (n.-227C>G) c.2235C>G (p.Val745=) c.2139C>G (p.Val713=) c.2079C>G (p.Val693=) c.1983C>G (p.Val661=)	gnomAD v4
6	g.43048439G=	CA1624357367	CUL7,KLC4	c.1956C= (p.Val652=) n.2239C= c.2052C= (p.Val684=) n.2255C= n.2290C= c.448C= c.-553+4931G= (n.-553+4931G=) c.2208C= (p.Val736=) c.2112C= (p.Val704=) c.-227C= (n.-227C=) c.2235C= (p.Val745=) c.2139C= (p.Val713=) c.2079C= (p.Val693=) c.1983C= (p.Val661=)
6	g.43048439G>T	CA138249273	CUL7,KLC4	c.1956C>A (p.Val652=) n.2239C>A c.2052C>A (p.Val684=) n.2255C>A n.2290C>A c.448C>A c.-553+4931G>T (n.-553+4931G>T) c.2208C>A (p.Val736=) c.2112C>A (p.Val704=) c.-227C>A (n.-227C>A) c.2235C>A (p.Val745=) c.2139C>A (p.Val713=) c.2079C>A (p.Val693=) c.1983C>A (p.Val661=)	dbSNP gnomAD v2 gnomAD v4
6	g.43048440A=	CA1624357368	CUL7,KLC4	c.1955T= (p.Val652=) n.2238T= c.2051T= (p.Val684=) n.2254T= n.2289T= c.447T= c.-553+4932A= (n.-553+4932A=) c.2207T= (p.Val736=) c.2111T= (p.Val704=) c.-228T= (n.-228T=) c.2234T= (p.Val745=) c.2138T= (p.Val713=) c.2078T= (p.Val693=) c.1982T= (p.Val661=)
6	g.43048440A>C	CA364220364	CUL7,KLC4	c.1955T>G (p.Val652Gly) n.2238T>G c.2051T>G (p.Val684Gly) n.2254T>G n.2289T>G c.447T>G c.-553+4932A>C (n.-553+4932A>C) c.2207T>G (p.Val736Gly) c.2111T>G (p.Val704Gly) c.-228T>G (n.-228T>G) c.2234T>G (p.Val745Gly) c.2138T>G (p.Val713Gly) c.2078T>G (p.Val693Gly) c.1982T>G (p.Val661Gly)
6	g.43048440A>G	CA364220368	CUL7,KLC4	c.1955T>C (p.Val652Ala) n.2238T>C c.2051T>C (p.Val684Ala) n.2254T>C n.2289T>C c.447T>C c.-553+4932A>G (n.-553+4932A>G) c.2207T>C (p.Val736Ala) c.2111T>C (p.Val704Ala) c.-228T>C (n.-228T>C) c.2234T>C (p.Val745Ala) c.2138T>C (p.Val713Ala) c.2078T>C (p.Val693Ala) c.1982T>C (p.Val661Ala)
6	g.43048440A>T	CA364220371	CUL7,KLC4	c.1955T>A (p.Val652Asp) n.2238T>A c.2051T>A (p.Val684Asp) n.2254T>A n.2289T>A c.447T>A c.-553+4932A>T (n.-553+4932A>T) c.2207T>A (p.Val736Asp) c.2111T>A (p.Val704Asp) c.-228T>A (n.-228T>A) c.2234T>A (p.Val745Asp) c.2138T>A (p.Val713Asp) c.2078T>A (p.Val693Asp) c.1982T>A (p.Val661Asp)	dbSNP gnomAD v2
6	g.43048441C>A	CA364220381	CUL7,KLC4	c.1954G>T (p.Val652Phe) n.2237G>T c.2050G>T (p.Val684Phe) n.2253G>T n.2288G>T c.446G>T c.-553+4933C>A (n.-553+4933C>A) c.2206G>T (p.Val736Phe) c.2110G>T (p.Val704Phe) c.-229G>T (n.-229G>T) c.2233G>T (p.Val745Phe) c.2137G>T (p.Val713Phe) c.2077G>T (p.Val693Phe) c.1981G>T (p.Val661Phe)
6	g.43048441C>G	CA364220379	CUL7,KLC4	c.1954G>C (p.Val652Leu) n.2237G>C c.2050G>C (p.Val684Leu) n.2253G>C n.2288G>C c.446G>C c.-553+4933C>G (n.-553+4933C>G) c.2206G>C (p.Val736Leu) c.2110G>C (p.Val704Leu) c.-229G>C (n.-229G>C) c.2233G>C (p.Val745Leu) c.2137G>C (p.Val713Leu) c.2077G>C (p.Val693Leu) c.1981G>C (p.Val661Leu)
6	g.43048441C>T	CA364220376	CUL7,KLC4	c.1954G>A (p.Val652Ile) n.2237G>A c.2050G>A (p.Val684Ile) n.2253G>A n.2288G>A c.446G>A c.-553+4933C>T (n.-553+4933C>T) c.2206G>A (p.Val736Ile) c.2110G>A (p.Val704Ile) c.-229G>A (n.-229G>A) c.2233G>A (p.Val745Ile) c.2137G>A (p.Val713Ile) c.2077G>A (p.Val693Ile) c.1981G>A (p.Val661Ile)
6	g.43048442C>A	CA364220384	CUL7,KLC4	c.1953G>T (p.Lys651Asn) n.2236G>T c.2049G>T (p.Lys683Asn) n.2252G>T n.2287G>T c.445G>T c.-553+4934C>A (n.-553+4934C>A) c.2205G>T (p.Lys735Asn) c.2109G>T (p.Lys703Asn) c.-230G>T (n.-230G>T) c.2232G>T (p.Lys744Asn) c.2136G>T (p.Lys712Asn) c.2076G>T (p.Lys692Asn) c.1980G>T (p.Lys660Asn)
6	g.43048442C=	CA1624357369	CUL7,KLC4	c.1953G= (p.Lys651=) n.2236G= c.2049G= (p.Lys683=) n.2252G= n.2287G= c.445G= c.-553+4934C= (n.-553+4934C=) c.2205G= (p.Lys735=) c.2109G= (p.Lys703=) c.-230G= (n.-230G=) c.2232G= (p.Lys744=) c.2136G= (p.Lys712=) c.2076G= (p.Lys692=) c.1980G= (p.Lys660=)
6	g.43048442C>G	CA364220387	CUL7,KLC4	c.1953G>C (p.Lys651Asn) n.2236G>C c.2049G>C (p.Lys683Asn) n.2252G>C n.2287G>C c.445G>C c.-553+4934C>G (n.-553+4934C>G) c.2205G>C (p.Lys735Asn) c.2109G>C (p.Lys703Asn) c.-230G>C (n.-230G>C) c.2232G>C (p.Lys744Asn) c.2136G>C (p.Lys712Asn) c.2076G>C (p.Lys692Asn) c.1980G>C (p.Lys660Asn)
6	g.43048442C>T	CA3814034	CUL7,KLC4	c.1953G>A (p.Lys651=) n.2236G>A c.2049G>A (p.Lys683=) n.2252G>A n.2287G>A c.445G>A c.-553+4934C>T (n.-553+4934C>T) c.2205G>A (p.Lys735=) c.2109G>A (p.Lys703=) c.-230G>A (n.-230G>A) c.2232G>A (p.Lys744=) c.2136G>A (p.Lys712=) c.2076G>A (p.Lys692=) c.1980G>A (p.Lys660=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048443T>A	CA364220400	CUL7,KLC4	c.1952A>T (p.Lys651Met) n.2235A>T c.2048A>T (p.Lys683Met) n.2251A>T n.2286A>T c.444A>T c.-553+4935T>A (n.-553+4935T>A) c.2204A>T (p.Lys735Met) c.2108A>T (p.Lys703Met) c.-231A>T (n.-231A>T) c.2231A>T (p.Lys744Met) c.2135A>T (p.Lys712Met) c.2075A>T (p.Lys692Met) c.1979A>T (p.Lys660Met)
6	g.43048443T>C	CA364220402	CUL7,KLC4	c.1952A>G (p.Lys651Arg) n.2235A>G c.2048A>G (p.Lys683Arg) n.2251A>G n.2286A>G c.444A>G c.-553+4935T>C (n.-553+4935T>C) c.2204A>G (p.Lys735Arg) c.2108A>G (p.Lys703Arg) c.-231A>G (n.-231A>G) c.2231A>G (p.Lys744Arg) c.2135A>G (p.Lys712Arg) c.2075A>G (p.Lys692Arg) c.1979A>G (p.Lys660Arg)
6	g.43048443T>G	CA364220404	CUL7,KLC4	c.1952A>C (p.Lys651Thr) n.2235A>C c.2048A>C (p.Lys683Thr) n.2251A>C n.2286A>C c.444A>C c.-553+4935T>G (n.-553+4935T>G) c.2204A>C (p.Lys735Thr) c.2108A>C (p.Lys703Thr) c.-231A>C (n.-231A>C) c.2231A>C (p.Lys744Thr) c.2135A>C (p.Lys712Thr) c.2075A>C (p.Lys692Thr) c.1979A>C (p.Lys660Thr)
6	g.43048444T>A	CA364220421	CUL7,KLC4	c.1951A>T (p.Lys651Ter) n.2234A>T c.2047A>T (p.Lys683Ter) n.2250A>T n.2285A>T c.443A>T c.-553+4936T>A (n.-553+4936T>A) c.2203A>T (p.Lys735Ter) c.2107A>T (p.Lys703Ter) c.-232A>T (n.-232A>T) c.2230A>T (p.Lys744Ter) c.2134A>T (p.Lys712Ter) c.2074A>T (p.Lys692Ter) c.1978A>T (p.Lys660Ter)
6	g.43048444T>C	CA3814035	CUL7,KLC4	c.1951A>G (p.Lys651Glu) n.2234A>G c.2047A>G (p.Lys683Glu) n.2250A>G n.2285A>G c.443A>G c.-553+4936T>C (n.-553+4936T>C) c.2203A>G (p.Lys735Glu) c.2107A>G (p.Lys703Glu) c.-232A>G (n.-232A>G) c.2230A>G (p.Lys744Glu) c.2134A>G (p.Lys712Glu) c.2074A>G (p.Lys692Glu) c.1978A>G (p.Lys660Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048444T>G	CA364220416	CUL7,KLC4	c.1951A>C (p.Lys651Gln) n.2234A>C c.2047A>C (p.Lys683Gln) n.2250A>C n.2285A>C c.443A>C c.-553+4936T>G (n.-553+4936T>G) c.2203A>C (p.Lys735Gln) c.2107A>C (p.Lys703Gln) c.-232A>C (n.-232A>C) c.2230A>C (p.Lys744Gln) c.2134A>C (p.Lys712Gln) c.2074A>C (p.Lys692Gln) c.1978A>C (p.Lys660Gln)
6	g.43048444T=	CA1624357370	CUL7,KLC4	c.1951A= (p.Lys651=) n.2234A= c.2047A= (p.Lys683=) n.2250A= n.2285A= c.443A= c.-553+4936T= (n.-553+4936T=) c.2203A= (p.Lys735=) c.2107A= (p.Lys703=) c.-232A= (n.-232A=) c.2230A= (p.Lys744=) c.2134A= (p.Lys712=) c.2074A= (p.Lys692=) c.1978A= (p.Lys660=)
6	g.43048445G>A	CA450261946	CUL7,KLC4	c.1950C>T (p.Asn650=) n.2233C>T c.2046C>T (p.Asn682=) n.2249C>T n.2284C>T c.442C>T c.-553+4937G>A (n.-553+4937G>A) c.2202C>T (p.Asn734=) c.2106C>T (p.Asn702=) c.-233C>T (n.-233C>T) c.2229C>T (p.Asn743=) c.2133C>T (p.Asn711=) c.2073C>T (p.Asn691=) c.1977C>T (p.Asn659=)	gnomAD v4
6	g.43048445G>C	CA364220424	CUL7,KLC4	c.1950C>G (p.Asn650Lys) n.2233C>G c.2046C>G (p.Asn682Lys) n.2249C>G n.2284C>G c.442C>G c.-553+4937G>C (n.-553+4937G>C) c.2202C>G (p.Asn734Lys) c.2106C>G (p.Asn702Lys) c.-233C>G (n.-233C>G) c.2229C>G (p.Asn743Lys) c.2133C>G (p.Asn711Lys) c.2073C>G (p.Asn691Lys) c.1977C>G (p.Asn659Lys)
6	g.43048445G>T	CA364220427	CUL7,KLC4	c.1950C>A (p.Asn650Lys) n.2233C>A c.2046C>A (p.Asn682Lys) n.2249C>A n.2284C>A c.442C>A c.-553+4937G>T (n.-553+4937G>T) c.2202C>A (p.Asn734Lys) c.2106C>A (p.Asn702Lys) c.-233C>A (n.-233C>A) c.2229C>A (p.Asn743Lys) c.2133C>A (p.Asn711Lys) c.2073C>A (p.Asn691Lys) c.1977C>A (p.Asn659Lys)
6	g.43048446T>A	CA364220428	CUL7,KLC4	c.1949A>T (p.Asn650Ile) n.2232A>T c.2045A>T (p.Asn682Ile) n.2248A>T n.2283A>T c.441A>T c.-553+4938T>A (n.-553+4938T>A) c.2201A>T (p.Asn734Ile) c.2105A>T (p.Asn702Ile) c.-234A>T (n.-234A>T) c.2228A>T (p.Asn743Ile) c.2132A>T (p.Asn711Ile) c.2072A>T (p.Asn691Ile) c.1976A>T (p.Asn659Ile)
6	g.43048446T>C	CA364220429	CUL7,KLC4	c.1949A>G (p.Asn650Ser) n.2232A>G c.2045A>G (p.Asn682Ser) n.2248A>G n.2283A>G c.441A>G c.-553+4938T>C (n.-553+4938T>C) c.2201A>G (p.Asn734Ser) c.2105A>G (p.Asn702Ser) c.-234A>G (n.-234A>G) c.2228A>G (p.Asn743Ser) c.2132A>G (p.Asn711Ser) c.2072A>G (p.Asn691Ser) c.1976A>G (p.Asn659Ser)
6	g.43048446T>G	CA364220430	CUL7,KLC4	c.1949A>C (p.Asn650Thr) n.2232A>C c.2045A>C (p.Asn682Thr) n.2248A>C n.2283A>C c.441A>C c.-553+4938T>G (n.-553+4938T>G) c.2201A>C (p.Asn734Thr) c.2105A>C (p.Asn702Thr) c.-234A>C (n.-234A>C) c.2228A>C (p.Asn743Thr) c.2132A>C (p.Asn711Thr) c.2072A>C (p.Asn691Thr) c.1976A>C (p.Asn659Thr)
6	g.43048447T>A	CA364220431	CUL7,KLC4	c.1948A>T (p.Asn650Tyr) n.2231A>T c.2044A>T (p.Asn682Tyr) n.2247A>T n.2282A>T c.440A>T c.-553+4939T>A (n.-553+4939T>A) c.2200A>T (p.Asn734Tyr) c.2104A>T (p.Asn702Tyr) c.-235A>T (n.-235A>T) c.2227A>T (p.Asn743Tyr) c.2131A>T (p.Asn711Tyr) c.2071A>T (p.Asn691Tyr) c.1975A>T (p.Asn659Tyr)
6	g.43048447T>C	CA364220437	CUL7,KLC4	c.1948A>G (p.Asn650Asp) n.2231A>G c.2044A>G (p.Asn682Asp) n.2247A>G n.2282A>G c.440A>G c.-553+4939T>C (n.-553+4939T>C) c.2200A>G (p.Asn734Asp) c.2104A>G (p.Asn702Asp) c.-235A>G (n.-235A>G) c.2227A>G (p.Asn743Asp) c.2131A>G (p.Asn711Asp) c.2071A>G (p.Asn691Asp) c.1975A>G (p.Asn659Asp)
6	g.43048447T>G	CA364220434	CUL7,KLC4	c.1948A>C (p.Asn650His) n.2231A>C c.2044A>C (p.Asn682His) n.2247A>C n.2282A>C c.440A>C c.-553+4939T>G (n.-553+4939T>G) c.2200A>C (p.Asn734His) c.2104A>C (p.Asn702His) c.-235A>C (n.-235A>C) c.2227A>C (p.Asn743His) c.2131A>C (p.Asn711His) c.2071A>C (p.Asn691His) c.1975A>C (p.Asn659His)
6	g.43048448del	CA2678807749	CUL7,KLC4	c.1947del (p.Asn650ThrfsTer20) n.2230del c.2043del (p.Asn682ThrfsTer20) n.2246del n.2281del c.439del c.-553+4940del (n.-553+4940del) c.2199del (p.Asn734ThrfsTer20) c.2103del (p.Asn702ThrfsTer20) c.-236del (n.-236del) c.2226del (p.Asn743ThrfsTer20) c.2130del (p.Asn711ThrfsTer20) c.2070del (p.Asn691ThrfsTer20) c.1974del (p.Asn659ThrfsTer20)	gnomAD v4
6	g.43048448C>A	CA364220440	CUL7,KLC4	c.1947G>T (p.Glu649Asp) n.2230G>T c.2043G>T (p.Glu681Asp) n.2246G>T n.2281G>T c.439G>T c.-553+4940C>A (n.-553+4940C>A) c.2199G>T (p.Glu733Asp) c.2103G>T (p.Glu701Asp) c.-236G>T (n.-236G>T) c.2226G>T (p.Glu742Asp) c.2130G>T (p.Glu710Asp) c.2070G>T (p.Glu690Asp) c.1974G>T (p.Glu658Asp)
6	g.43048448C>G	CA364220444	CUL7,KLC4	c.1947G>C (p.Glu649Asp) n.2230G>C c.2043G>C (p.Glu681Asp) n.2246G>C n.2281G>C c.439G>C c.-553+4940C>G (n.-553+4940C>G) c.2199G>C (p.Glu733Asp) c.2103G>C (p.Glu701Asp) c.-236G>C (n.-236G>C) c.2226G>C (p.Glu742Asp) c.2130G>C (p.Glu710Asp) c.2070G>C (p.Glu690Asp) c.1974G>C (p.Glu658Asp)
6	g.43048448C>T	CA450261952	CUL7,KLC4	c.1947G>A (p.Glu649=) n.2230G>A c.2043G>A (p.Glu681=) n.2246G>A n.2281G>A c.439G>A c.-553+4940C>T (n.-553+4940C>T) c.2199G>A (p.Glu733=) c.2103G>A (p.Glu701=) c.-236G>A (n.-236G>A) c.2226G>A (p.Glu742=) c.2130G>A (p.Glu710=) c.2070G>A (p.Glu690=) c.1974G>A (p.Glu658=)	gnomAD v4
6	g.43048449T>A	CA364220447	CUL7,KLC4	c.1946A>T (p.Glu649Val) n.2229A>T c.2042A>T (p.Glu681Val) n.2245A>T n.2280A>T c.438A>T c.-553+4941T>A (n.-553+4941T>A) c.2198A>T (p.Glu733Val) c.2102A>T (p.Glu701Val) c.-237A>T (n.-237A>T) c.2225A>T (p.Glu742Val) c.2129A>T (p.Glu710Val) c.2069A>T (p.Glu690Val) c.1973A>T (p.Glu658Val)
6	g.43048449T>C	CA364220451	CUL7,KLC4	c.1946A>G (p.Glu649Gly) n.2229A>G c.2042A>G (p.Glu681Gly) n.2245A>G n.2280A>G c.438A>G c.-553+4941T>C (n.-553+4941T>C) c.2198A>G (p.Glu733Gly) c.2102A>G (p.Glu701Gly) c.-237A>G (n.-237A>G) c.2225A>G (p.Glu742Gly) c.2129A>G (p.Glu710Gly) c.2069A>G (p.Glu690Gly) c.1973A>G (p.Glu658Gly)
6	g.43048449T>G	CA364220454	CUL7,KLC4	c.1946A>C (p.Glu649Ala) n.2229A>C c.2042A>C (p.Glu681Ala) n.2245A>C n.2280A>C c.438A>C c.-553+4941T>G (n.-553+4941T>G) c.2198A>C (p.Glu733Ala) c.2102A>C (p.Glu701Ala) c.-237A>C (n.-237A>C) c.2225A>C (p.Glu742Ala) c.2129A>C (p.Glu710Ala) c.2069A>C (p.Glu690Ala) c.1973A>C (p.Glu658Ala)	gnomAD v4
6	g.43048450C>A	CA364220468	CUL7,KLC4	c.1945G>T (p.Glu649Ter) n.2228G>T c.2041G>T (p.Glu681Ter) n.2244G>T n.2279G>T c.437G>T c.-553+4942C>A (n.-553+4942C>A) c.2197G>T (p.Glu733Ter) c.2101G>T (p.Glu701Ter) c.-238G>T (n.-238G>T) c.2224G>T (p.Glu742Ter) c.2128G>T (p.Glu710Ter) c.2068G>T (p.Glu690Ter) c.1972G>T (p.Glu658Ter)
6	g.43048450C=	CA1624357371	CUL7,KLC4	c.1945G= (p.Glu649=) n.2228G= c.2041G= (p.Glu681=) n.2244G= n.2279G= c.437G= c.-553+4942C= (n.-553+4942C=) c.2197G= (p.Glu733=) c.2101G= (p.Glu701=) c.-238G= (n.-238G=) c.2224G= (p.Glu742=) c.2128G= (p.Glu710=) c.2068G= (p.Glu690=) c.1972G= (p.Glu658=)
6	g.43048450C>G	CA364220473	CUL7,KLC4	c.1945G>C (p.Glu649Gln) n.2228G>C c.2041G>C (p.Glu681Gln) n.2244G>C n.2279G>C c.437G>C c.-553+4942C>G (n.-553+4942C>G) c.2197G>C (p.Glu733Gln) c.2101G>C (p.Glu701Gln) c.-238G>C (n.-238G>C) c.2224G>C (p.Glu742Gln) c.2128G>C (p.Glu710Gln) c.2068G>C (p.Glu690Gln) c.1972G>C (p.Glu658Gln)
6	g.43048450C>T	CA138249276	CUL7,KLC4	c.1945G>A (p.Glu649Lys) n.2228G>A c.2041G>A (p.Glu681Lys) n.2244G>A n.2279G>A c.437G>A c.-553+4942C>T (n.-553+4942C>T) c.2197G>A (p.Glu733Lys) c.2101G>A (p.Glu701Lys) c.-238G>A (n.-238G>A) c.2224G>A (p.Glu742Lys) c.2128G>A (p.Glu710Lys) c.2068G>A (p.Glu690Lys) c.1972G>A (p.Glu658Lys)	dbSNP gnomAD v3 gnomAD v4
6	g.43048451C>A	CA364220479	CUL7,KLC4	c.1944G>T (p.Gln648His) n.2227G>T c.2040G>T (p.Gln680His) n.2243G>T n.2278G>T c.436G>T c.-553+4943C>A (n.-553+4943C>A) c.2196G>T (p.Gln732His) c.2100G>T (p.Gln700His) c.-239G>T (n.-239G>T) c.2223G>T (p.Gln741His) c.2127G>T (p.Gln709His) c.2067G>T (p.Gln689His) c.1971G>T (p.Gln657His)
6	g.43048451C=	CA1624357372	CUL7,KLC4	c.1944G= (p.Gln648=) n.2227G= c.2040G= (p.Gln680=) n.2243G= n.2278G= c.436G= c.-553+4943C= (n.-553+4943C=) c.2196G= (p.Gln732=) c.2100G= (p.Gln700=) c.-239G= (n.-239G=) c.2223G= (p.Gln741=) c.2127G= (p.Gln709=) c.2067G= (p.Gln689=) c.1971G= (p.Gln657=)
6	g.43048451C>G	CA364220481	CUL7,KLC4	c.1944G>C (p.Gln648His) n.2227G>C c.2040G>C (p.Gln680His) n.2243G>C n.2278G>C c.436G>C c.-553+4943C>G (n.-553+4943C>G) c.2196G>C (p.Gln732His) c.2100G>C (p.Gln700His) c.-239G>C (n.-239G>C) c.2223G>C (p.Gln741His) c.2127G>C (p.Gln709His) c.2067G>C (p.Gln689His) c.1971G>C (p.Gln657His)
6	g.43048451C>T	CA450261959	CUL7,KLC4	c.1944G>A (p.Gln648=) n.2227G>A c.2040G>A (p.Gln680=) n.2243G>A n.2278G>A c.436G>A c.-553+4943C>T (n.-553+4943C>T) c.2196G>A (p.Gln732=) c.2100G>A (p.Gln700=) c.-239G>A (n.-239G>A) c.2223G>A (p.Gln741=) c.2127G>A (p.Gln709=) c.2067G>A (p.Gln689=) c.1971G>A (p.Gln657=)	dbSNP gnomAD v4
6	g.43048452T>A	CA364220487	CUL7,KLC4	c.1943A>T (p.Gln648Leu) n.2226A>T c.2039A>T (p.Gln680Leu) n.2242A>T n.2277A>T c.435A>T c.-553+4944T>A (n.-553+4944T>A) c.2195A>T (p.Gln732Leu) c.2099A>T (p.Gln700Leu) c.-240A>T (n.-240A>T) c.2222A>T (p.Gln741Leu) c.2126A>T (p.Gln709Leu) c.2066A>T (p.Gln689Leu) c.1970A>T (p.Gln657Leu)
6	g.43048452T>C	CA364220486	CUL7,KLC4	c.1943A>G (p.Gln648Arg) n.2226A>G c.2039A>G (p.Gln680Arg) n.2242A>G n.2277A>G c.435A>G c.-553+4944T>C (n.-553+4944T>C) c.2195A>G (p.Gln732Arg) c.2099A>G (p.Gln700Arg) c.-240A>G (n.-240A>G) c.2222A>G (p.Gln741Arg) c.2126A>G (p.Gln709Arg) c.2066A>G (p.Gln689Arg) c.1970A>G (p.Gln657Arg)
6	g.43048452T>G	CA364220484	CUL7,KLC4	c.1943A>C (p.Gln648Pro) n.2226A>C c.2039A>C (p.Gln680Pro) n.2242A>C n.2277A>C c.435A>C c.-553+4944T>G (n.-553+4944T>G) c.2195A>C (p.Gln732Pro) c.2099A>C (p.Gln700Pro) c.-240A>C (n.-240A>C) c.2222A>C (p.Gln741Pro) c.2126A>C (p.Gln709Pro) c.2066A>C (p.Gln689Pro) c.1970A>C (p.Gln657Pro)	gnomAD v4
6	g.43048453G>A	CA364220490	CUL7,KLC4	c.1942C>T (p.Gln648Ter) n.2225C>T c.2038C>T (p.Gln680Ter) n.2241C>T n.2276C>T c.434C>T c.-553+4945G>A (n.-553+4945G>A) c.2194C>T (p.Gln732Ter) c.2098C>T (p.Gln700Ter) c.-241C>T (n.-241C>T) c.2221C>T (p.Gln741Ter) c.2125C>T (p.Gln709Ter) c.2065C>T (p.Gln689Ter) c.1969C>T (p.Gln657Ter)
6	g.43048453G>C	CA364220496	CUL7,KLC4	c.1942C>G (p.Gln648Glu) n.2225C>G c.2038C>G (p.Gln680Glu) n.2241C>G n.2276C>G c.434C>G c.-553+4945G>C (n.-553+4945G>C) c.2194C>G (p.Gln732Glu) c.2098C>G (p.Gln700Glu) c.-241C>G (n.-241C>G) c.2221C>G (p.Gln741Glu) c.2125C>G (p.Gln709Glu) c.2065C>G (p.Gln689Glu) c.1969C>G (p.Gln657Glu)
6	g.43048453G>T	CA364220492	CUL7,KLC4	c.1942C>A (p.Gln648Lys) n.2225C>A c.2038C>A (p.Gln680Lys) n.2241C>A n.2276C>A c.434C>A c.-553+4945G>T (n.-553+4945G>T) c.2194C>A (p.Gln732Lys) c.2098C>A (p.Gln700Lys) c.-241C>A (n.-241C>A) c.2221C>A (p.Gln741Lys) c.2125C>A (p.Gln709Lys) c.2065C>A (p.Gln689Lys) c.1969C>A (p.Gln657Lys)
6	g.43048454G>A	CA450261962	CUL7,KLC4	c.1941C>T (p.Thr647=) n.2224C>T c.2037C>T (p.Thr679=) n.2240C>T n.2275C>T c.433C>T c.-553+4946G>A (n.-553+4946G>A) c.2193C>T (p.Thr731=) c.2097C>T (p.Thr699=) c.-242C>T (n.-242C>T) c.2220C>T (p.Thr740=) c.2124C>T (p.Thr708=) c.2064C>T (p.Thr688=) c.1968C>T (p.Thr656=)	dbSNP gnomAD v2 gnomAD v4
6	g.43048454G>C	CA450261964	CUL7,KLC4	c.1941C>G (p.Thr647=) n.2224C>G c.2037C>G (p.Thr679=) n.2240C>G n.2275C>G c.433C>G c.-553+4946G>C (n.-553+4946G>C) c.2193C>G (p.Thr731=) c.2097C>G (p.Thr699=) c.-242C>G (n.-242C>G) c.2220C>G (p.Thr740=) c.2124C>G (p.Thr708=) c.2064C>G (p.Thr688=) c.1968C>G (p.Thr656=)
6	g.43048454G=	CA1624357373	CUL7,KLC4	c.1941C= (p.Thr647=) n.2224C= c.2037C= (p.Thr679=) n.2240C= n.2275C= c.433C= c.-553+4946G= (n.-553+4946G=) c.2193C= (p.Thr731=) c.2097C= (p.Thr699=) c.-242C= (n.-242C=) c.2220C= (p.Thr740=) c.2124C= (p.Thr708=) c.2064C= (p.Thr688=) c.1968C= (p.Thr656=)
6	g.43048454G>T	CA450261966	CUL7,KLC4	c.1941C>A (p.Thr647=) n.2224C>A c.2037C>A (p.Thr679=) n.2240C>A n.2275C>A c.433C>A c.-553+4946G>T (n.-553+4946G>T) c.2193C>A (p.Thr731=) c.2097C>A (p.Thr699=) c.-242C>A (n.-242C>A) c.2220C>A (p.Thr740=) c.2124C>A (p.Thr708=) c.2064C>A (p.Thr688=) c.1968C>A (p.Thr656=)	dbSNP gnomAD v3 gnomAD v4
6	g.43048455G>A	CA3814036	CUL7,KLC4	c.1940C>T (p.Thr647Ile) n.2223C>T c.2036C>T (p.Thr679Ile) n.2239C>T n.2274C>T c.432C>T c.-553+4947G>A (n.-553+4947G>A) c.2192C>T (p.Thr731Ile) c.2096C>T (p.Thr699Ile) c.-243C>T (n.-243C>T) c.2219C>T (p.Thr740Ile) c.2123C>T (p.Thr708Ile) c.2063C>T (p.Thr688Ile) c.1967C>T (p.Thr656Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048455G>C	CA364220502	CUL7,KLC4	c.1940C>G (p.Thr647Ser) n.2223C>G c.2036C>G (p.Thr679Ser) n.2239C>G n.2274C>G c.432C>G c.-553+4947G>C (n.-553+4947G>C) c.2192C>G (p.Thr731Ser) c.2096C>G (p.Thr699Ser) c.-243C>G (n.-243C>G) c.2219C>G (p.Thr740Ser) c.2123C>G (p.Thr708Ser) c.2063C>G (p.Thr688Ser) c.1967C>G (p.Thr656Ser)
6	g.43048455G=	CA1624357374	CUL7,KLC4	c.1940C= (p.Thr647=) n.2223C= c.2036C= (p.Thr679=) n.2239C= n.2274C= c.432C= c.-553+4947G= (n.-553+4947G=) c.2192C= (p.Thr731=) c.2096C= (p.Thr699=) c.-243C= (n.-243C=) c.2219C= (p.Thr740=) c.2123C= (p.Thr708=) c.2063C= (p.Thr688=) c.1967C= (p.Thr656=)
6	g.43048455G>T	CA364220501	CUL7,KLC4	c.1940C>A (p.Thr647Asn) n.2223C>A c.2036C>A (p.Thr679Asn) n.2239C>A n.2274C>A c.432C>A c.-553+4947G>T (n.-553+4947G>T) c.2192C>A (p.Thr731Asn) c.2096C>A (p.Thr699Asn) c.-243C>A (n.-243C>A) c.2219C>A (p.Thr740Asn) c.2123C>A (p.Thr708Asn) c.2063C>A (p.Thr688Asn) c.1967C>A (p.Thr656Asn)
6	g.43048456T>A	CA364220503	CUL7,KLC4	c.1939A>T (p.Thr647Ser) n.2222A>T c.2035A>T (p.Thr679Ser) n.2238A>T n.2273A>T c.431A>T c.-553+4948T>A (n.-553+4948T>A) c.2191A>T (p.Thr731Ser) c.2095A>T (p.Thr699Ser) c.-244A>T (n.-244A>T) c.2218A>T (p.Thr740Ser) c.2122A>T (p.Thr708Ser) c.2062A>T (p.Thr688Ser) c.1966A>T (p.Thr656Ser)
6	g.43048456T>C	CA364220505	CUL7,KLC4	c.1939A>G (p.Thr647Ala) n.2222A>G c.2035A>G (p.Thr679Ala) n.2238A>G n.2273A>G c.431A>G c.-553+4948T>C (n.-553+4948T>C) c.2191A>G (p.Thr731Ala) c.2095A>G (p.Thr699Ala) c.-244A>G (n.-244A>G) c.2218A>G (p.Thr740Ala) c.2122A>G (p.Thr708Ala) c.2062A>G (p.Thr688Ala) c.1966A>G (p.Thr656Ala)
6	g.43048456T>G	CA364220504	CUL7,KLC4	c.1939A>C (p.Thr647Pro) n.2222A>C c.2035A>C (p.Thr679Pro) n.2238A>C n.2273A>C c.431A>C c.-553+4948T>G (n.-553+4948T>G) c.2191A>C (p.Thr731Pro) c.2095A>C (p.Thr699Pro) c.-244A>C (n.-244A>C) c.2218A>C (p.Thr740Pro) c.2122A>C (p.Thr708Pro) c.2062A>C (p.Thr688Pro) c.1966A>C (p.Thr656Pro)
6	g.43048456_43048457delinsTC	CA1624357375	CUL7,KLC4	c.1938_1939delinsGA (p.Gly646=) n.2221_2222delinsGA c.2034_2035delinsGA (p.Gly678=) n.2237_2238delinsGA n.2272_2273delinsGA c.430_431delinsGA c.-553+4948_-553+4949delinsTC (n.-553+4948_-553+4949delinsTC) c.2190_2191delinsGA (p.Gly730=) c.2094_2095delinsGA (p.Gly698=) c.-245_-244delinsGA (n.-245_-244delinsGA) c.2217_2218delinsGA (p.Gly739=) c.2121_2122delinsGA (p.Gly707=) c.2061_2062delinsGA (p.Gly687=) c.1965_1966delinsGA (p.Gly655=)
6	g.43048457C>A	CA450261968	CUL7,KLC4	c.1938G>T (p.Gly646=) n.2221G>T c.2034G>T (p.Gly678=) n.2237G>T n.2272G>T c.430G>T c.-553+4949C>A (n.-553+4949C>A) c.2190G>T (p.Gly730=) c.2094G>T (p.Gly698=) c.-245G>T (n.-245G>T) c.2217G>T (p.Gly739=) c.2121G>T (p.Gly707=) c.2061G>T (p.Gly687=) c.1965G>T (p.Gly655=)
6	g.43048457C=	CA1624357376	CUL7,KLC4	c.1938G= (p.Gly646=) n.2221G= c.2034G= (p.Gly678=) n.2237G= n.2272G= c.430G= c.-553+4949C= (n.-553+4949C=) c.2190G= (p.Gly730=) c.2094G= (p.Gly698=) c.-245G= (n.-245G=) c.2217G= (p.Gly739=) c.2121G= (p.Gly707=) c.2061G= (p.Gly687=) c.1965G= (p.Gly655=)
6	g.43048457C>G	CA450261970	CUL7,KLC4	c.1938G>C (p.Gly646=) n.2221G>C c.2034G>C (p.Gly678=) n.2237G>C n.2272G>C c.430G>C c.-553+4949C>G (n.-553+4949C>G) c.2190G>C (p.Gly730=) c.2094G>C (p.Gly698=) c.-245G>C (n.-245G>C) c.2217G>C (p.Gly739=) c.2121G>C (p.Gly707=) c.2061G>C (p.Gly687=) c.1965G>C (p.Gly655=)
6	g.43048457C>T	CA138249279	CUL7,KLC4	c.1938G>A (p.Gly646=) n.2221G>A c.2034G>A (p.Gly678=) n.2237G>A n.2272G>A c.430G>A c.-553+4949C>T (n.-553+4949C>T) c.2190G>A (p.Gly730=) c.2094G>A (p.Gly698=) c.-245G>A (n.-245G>A) c.2217G>A (p.Gly739=) c.2121G>A (p.Gly707=) c.2061G>A (p.Gly687=) c.1965G>A (p.Gly655=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048460dup	CA2695206337	CUL7,KLC4	c.1938dup (p.Thr647AspfsTer?) n.2221dup c.2034dup (p.Thr679AspfsTer?) n.2237dup n.2272dup c.430dup c.-553+4952dup (n.-553+4952dup) c.2190dup (p.Thr731AspfsTer?) c.2094dup (p.Thr699AspfsTer?) c.-245dup (n.-245dup) c.2217dup (p.Thr740AspfsTer?) c.2121dup (p.Thr708AspfsTer?) c.2061dup (p.Thr688AspfsTer?) c.1965dup (p.Thr656AspfsTer?)
6	g.43048460del	CA567150903	CUL7,KLC4	c.1938del (p.Thr647ProfsTer23) n.2221del c.2034del (p.Thr679ProfsTer23) n.2237del n.2272del c.430del c.-553+4952del (n.-553+4952del) c.2190del (p.Thr731ProfsTer23) c.2094del (p.Thr699ProfsTer23) c.-245del (n.-245del) c.2217del (p.Thr740ProfsTer23) c.2121del (p.Thr708ProfsTer23) c.2061del (p.Thr688ProfsTer23) c.1965del (p.Thr656ProfsTer23)	dbSNP gnomAD v2
6	g.43048458C>A	CA364220508	CUL7,KLC4	c.1937G>T (p.Gly646Val) n.2220G>T c.2033G>T (p.Gly678Val) n.2236G>T n.2271G>T c.429G>T c.-553+4950C>A (n.-553+4950C>A) c.2189G>T (p.Gly730Val) c.2093G>T (p.Gly698Val) c.-246G>T (n.-246G>T) c.2216G>T (p.Gly739Val) c.2120G>T (p.Gly707Val) c.2060G>T (p.Gly687Val) c.1964G>T (p.Gly655Val)
6	g.43048458C>G	CA364220512	CUL7,KLC4	c.1937G>C (p.Gly646Ala) n.2220G>C c.2033G>C (p.Gly678Ala) n.2236G>C n.2271G>C c.429G>C c.-553+4950C>G (n.-553+4950C>G) c.2189G>C (p.Gly730Ala) c.2093G>C (p.Gly698Ala) c.-246G>C (n.-246G>C) c.2216G>C (p.Gly739Ala) c.2120G>C (p.Gly707Ala) c.2060G>C (p.Gly687Ala) c.1964G>C (p.Gly655Ala)
6	g.43048458C>T	CA364220514	CUL7,KLC4	c.1937G>A (p.Gly646Glu) n.2220G>A c.2033G>A (p.Gly678Glu) n.2236G>A n.2271G>A c.429G>A c.-553+4950C>T (n.-553+4950C>T) c.2189G>A (p.Gly730Glu) c.2093G>A (p.Gly698Glu) c.-246G>A (n.-246G>A) c.2216G>A (p.Gly739Glu) c.2120G>A (p.Gly707Glu) c.2060G>A (p.Gly687Glu) c.1964G>A (p.Gly655Glu)	gnomAD v4
6	g.43048459C>A	CA364220516	CUL7,KLC4	c.1936G>T (p.Gly646Trp) n.2219G>T c.2032G>T (p.Gly678Trp) n.2235G>T n.2270G>T c.428G>T c.-553+4951C>A (n.-553+4951C>A) c.2188G>T (p.Gly730Trp) c.2092G>T (p.Gly698Trp) c.-247G>T (n.-247G>T) c.2215G>T (p.Gly739Trp) c.2119G>T (p.Gly707Trp) c.2059G>T (p.Gly687Trp) c.1963G>T (p.Gly655Trp)
6	g.43048459C>G	CA364220519	CUL7,KLC4	c.1936G>C (p.Gly646Arg) n.2219G>C c.2032G>C (p.Gly678Arg) n.2235G>C n.2270G>C c.428G>C c.-553+4951C>G (n.-553+4951C>G) c.2188G>C (p.Gly730Arg) c.2092G>C (p.Gly698Arg) c.-247G>C (n.-247G>C) c.2215G>C (p.Gly739Arg) c.2119G>C (p.Gly707Arg) c.2059G>C (p.Gly687Arg) c.1963G>C (p.Gly655Arg)
6	g.43048459C>T	CA364220521	CUL7,KLC4	c.1936G>A (p.Gly646Arg) n.2219G>A c.2032G>A (p.Gly678Arg) n.2235G>A n.2270G>A c.428G>A c.-553+4951C>T (n.-553+4951C>T) c.2188G>A (p.Gly730Arg) c.2092G>A (p.Gly698Arg) c.-247G>A (n.-247G>A) c.2215G>A (p.Gly739Arg) c.2119G>A (p.Gly707Arg) c.2059G>A (p.Gly687Arg) c.1963G>A (p.Gly655Arg)
6	g.43048460C>A	CA364220525	CUL7,KLC4	c.1935G>T (p.Glu645Asp) n.2218G>T c.2031G>T (p.Glu677Asp) n.2234G>T n.2269G>T c.427G>T c.-553+4952C>A (n.-553+4952C>A) c.2187G>T (p.Glu729Asp) c.2091G>T (p.Glu697Asp) c.-248G>T (n.-248G>T) c.2214G>T (p.Glu738Asp) c.2118G>T (p.Glu706Asp) c.2058G>T (p.Glu686Asp) c.1962G>T (p.Glu654Asp)
6	g.43048460C>G	CA364220528	CUL7,KLC4	c.1935G>C (p.Glu645Asp) n.2218G>C c.2031G>C (p.Glu677Asp) n.2234G>C n.2269G>C c.427G>C c.-553+4952C>G (n.-553+4952C>G) c.2187G>C (p.Glu729Asp) c.2091G>C (p.Glu697Asp) c.-248G>C (n.-248G>C) c.2214G>C (p.Glu738Asp) c.2118G>C (p.Glu706Asp) c.2058G>C (p.Glu686Asp) c.1962G>C (p.Glu654Asp)
6	g.43048460C>T	CA450261976	CUL7,KLC4	c.1935G>A (p.Glu645=) n.2218G>A c.2031G>A (p.Glu677=) n.2234G>A n.2269G>A c.427G>A c.-553+4952C>T (n.-553+4952C>T) c.2187G>A (p.Glu729=) c.2091G>A (p.Glu697=) c.-248G>A (n.-248G>A) c.2214G>A (p.Glu738=) c.2118G>A (p.Glu706=) c.2058G>A (p.Glu686=) c.1962G>A (p.Glu654=)
6	g.43048461T>A	CA364220532	CUL7,KLC4	c.1934A>T (p.Glu645Val) n.2217A>T c.2030A>T (p.Glu677Val) n.2233A>T n.2268A>T c.426A>T c.-553+4953T>A (n.-553+4953T>A) c.2186A>T (p.Glu729Val) c.2090A>T (p.Glu697Val) c.-249A>T (n.-249A>T) c.2213A>T (p.Glu738Val) c.2117A>T (p.Glu706Val) c.2057A>T (p.Glu686Val) c.1961A>T (p.Glu654Val)
6	g.43048461T>C	CA364220537	CUL7,KLC4	c.1934A>G (p.Glu645Gly) n.2217A>G c.2030A>G (p.Glu677Gly) n.2233A>G n.2268A>G c.426A>G c.-553+4953T>C (n.-553+4953T>C) c.2186A>G (p.Glu729Gly) c.2090A>G (p.Glu697Gly) c.-249A>G (n.-249A>G) c.2213A>G (p.Glu738Gly) c.2117A>G (p.Glu706Gly) c.2057A>G (p.Glu686Gly) c.1961A>G (p.Glu654Gly)
6	g.43048461T>G	CA364220549	CUL7,KLC4	c.1934A>C (p.Glu645Ala) n.2217A>C c.2030A>C (p.Glu677Ala) n.2233A>C n.2268A>C c.426A>C c.-553+4953T>G (n.-553+4953T>G) c.2186A>C (p.Glu729Ala) c.2090A>C (p.Glu697Ala) c.-249A>C (n.-249A>C) c.2213A>C (p.Glu738Ala) c.2117A>C (p.Glu706Ala) c.2057A>C (p.Glu686Ala) c.1961A>C (p.Glu654Ala)	gnomAD v4
6	g.43048462C>A	CA364220553	CUL7,KLC4	c.1933G>T (p.Glu645Ter) n.2216G>T c.2029G>T (p.Glu677Ter) n.2232G>T n.2267G>T c.425G>T c.-553+4954C>A (n.-553+4954C>A) c.2185G>T (p.Glu729Ter) c.2089G>T (p.Glu697Ter) c.-250G>T (n.-250G>T) c.2212G>T (p.Glu738Ter) c.2116G>T (p.Glu706Ter) c.2056G>T (p.Glu686Ter) c.1960G>T (p.Glu654Ter)
6	g.43048462C>G	CA364220551	CUL7,KLC4	c.1933G>C (p.Glu645Gln) n.2216G>C c.2029G>C (p.Glu677Gln) n.2232G>C n.2267G>C c.425G>C c.-553+4954C>G (n.-553+4954C>G) c.2185G>C (p.Glu729Gln) c.2089G>C (p.Glu697Gln) c.-250G>C (n.-250G>C) c.2212G>C (p.Glu738Gln) c.2116G>C (p.Glu706Gln) c.2056G>C (p.Glu686Gln) c.1960G>C (p.Glu654Gln)
6	g.43048462C>T	CA364220552	CUL7,KLC4	c.1933G>A (p.Glu645Lys) n.2216G>A c.2029G>A (p.Glu677Lys) n.2232G>A n.2267G>A c.425G>A c.-553+4954C>T (n.-553+4954C>T) c.2185G>A (p.Glu729Lys) c.2089G>A (p.Glu697Lys) c.-250G>A (n.-250G>A) c.2212G>A (p.Glu738Lys) c.2116G>A (p.Glu706Lys) c.2056G>A (p.Glu686Lys) c.1960G>A (p.Glu654Lys)
6	g.43048463T>A	CA450261978	CUL7,KLC4	c.1932A>T (p.Ser644=) n.2215A>T c.2028A>T (p.Ser676=) n.2231A>T n.2266A>T c.424A>T c.-553+4955T>A (n.-553+4955T>A) c.2184A>T (p.Ser728=) c.2088A>T (p.Ser696=) c.-251A>T (n.-251A>T) c.2211A>T (p.Ser737=) c.2115A>T (p.Ser705=) c.2055A>T (p.Ser685=) c.1959A>T (p.Ser653=)
6	g.43048463T>C	CA3814037	CUL7,KLC4	c.1932A>G (p.Ser644=) n.2215A>G c.2028A>G (p.Ser676=) n.2231A>G n.2266A>G c.424A>G c.-553+4955T>C (n.-553+4955T>C) c.2184A>G (p.Ser728=) c.2088A>G (p.Ser696=) c.-251A>G (n.-251A>G) c.2211A>G (p.Ser737=) c.2115A>G (p.Ser705=) c.2055A>G (p.Ser685=) c.1959A>G (p.Ser653=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048463T>G	CA3814038	CUL7,KLC4	c.1932A>C (p.Ser644=) n.2215A>C c.2028A>C (p.Ser676=) n.2231A>C n.2266A>C c.424A>C c.-553+4955T>G (n.-553+4955T>G) c.2184A>C (p.Ser728=) c.2088A>C (p.Ser696=) c.-251A>C (n.-251A>C) c.2211A>C (p.Ser737=) c.2115A>C (p.Ser705=) c.2055A>C (p.Ser685=) c.1959A>C (p.Ser653=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048463T=	CA1624357377	CUL7,KLC4	c.1932A= (p.Ser644=) n.2215A= c.2028A= (p.Ser676=) n.2231A= n.2266A= c.424A= c.-553+4955T= (n.-553+4955T=) c.2184A= (p.Ser728=) c.2088A= (p.Ser696=) c.-251A= (n.-251A=) c.2211A= (p.Ser737=) c.2115A= (p.Ser705=) c.2055A= (p.Ser685=) c.1959A= (p.Ser653=)
6	g.43048464G>A	CA364220557	CUL7,KLC4	c.1931C>T (p.Ser644Leu) n.2214C>T c.2027C>T (p.Ser676Leu) n.2230C>T n.2265C>T c.423C>T c.-553+4956G>A (n.-553+4956G>A) c.2183C>T (p.Ser728Leu) c.2087C>T (p.Ser696Leu) c.-252C>T (n.-252C>T) c.2210C>T (p.Ser737Leu) c.2114C>T (p.Ser705Leu) c.2054C>T (p.Ser685Leu) c.1958C>T (p.Ser653Leu)	gnomAD v4
6	g.43048464G>C	CA364220561	CUL7,KLC4	c.1931C>G (p.Ser644Ter) n.2214C>G c.2027C>G (p.Ser676Ter) n.2230C>G n.2265C>G c.423C>G c.-553+4956G>C (n.-553+4956G>C) c.2183C>G (p.Ser728Ter) c.2087C>G (p.Ser696Ter) c.-252C>G (n.-252C>G) c.2210C>G (p.Ser737Ter) c.2114C>G (p.Ser705Ter) c.2054C>G (p.Ser685Ter) c.1958C>G (p.Ser653Ter)
6	g.43048464G>T	CA364220562	CUL7,KLC4	c.1931C>A (p.Ser644Ter) n.2214C>A c.2027C>A (p.Ser676Ter) n.2230C>A n.2265C>A c.423C>A c.-553+4956G>T (n.-553+4956G>T) c.2183C>A (p.Ser728Ter) c.2087C>A (p.Ser696Ter) c.-252C>A (n.-252C>A) c.2210C>A (p.Ser737Ter) c.2114C>A (p.Ser705Ter) c.2054C>A (p.Ser685Ter) c.1958C>A (p.Ser653Ter)

Number of alleles fetched