Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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.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.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)
6	g.43048465A>C	CA364220565	CUL7,KLC4	c.1930T>G (p.Ser644Ala) n.2213T>G c.2026T>G (p.Ser676Ala) n.2229T>G n.2264T>G c.422T>G c.-553+4957A>C (n.-553+4957A>C) c.2182T>G (p.Ser728Ala) c.2086T>G (p.Ser696Ala) c.-253T>G (n.-253T>G) c.2209T>G (p.Ser737Ala) c.2113T>G (p.Ser705Ala) c.2053T>G (p.Ser685Ala) c.1957T>G (p.Ser653Ala)
6	g.43048465A>G	CA364220566	CUL7,KLC4	c.1930T>C (p.Ser644Pro) n.2213T>C c.2026T>C (p.Ser676Pro) n.2229T>C n.2264T>C c.422T>C c.-553+4957A>G (n.-553+4957A>G) c.2182T>C (p.Ser728Pro) c.2086T>C (p.Ser696Pro) c.-253T>C (n.-253T>C) c.2209T>C (p.Ser737Pro) c.2113T>C (p.Ser705Pro) c.2053T>C (p.Ser685Pro) c.1957T>C (p.Ser653Pro)
6	g.43048465A>T	CA364220570	CUL7,KLC4	c.1930T>A (p.Ser644Thr) n.2213T>A c.2026T>A (p.Ser676Thr) n.2229T>A n.2264T>A c.422T>A c.-553+4957A>T (n.-553+4957A>T) c.2182T>A (p.Ser728Thr) c.2086T>A (p.Ser696Thr) c.-253T>A (n.-253T>A) c.2209T>A (p.Ser737Thr) c.2113T>A (p.Ser705Thr) c.2053T>A (p.Ser685Thr) c.1957T>A (p.Ser653Thr)
6	g.43048466G>A	CA450261984	CUL7,KLC4	c.1929C>T (p.Ser643=) n.2212C>T c.2025C>T (p.Ser675=) n.2228C>T n.2263C>T c.421C>T c.-553+4958G>A (n.-553+4958G>A) c.2181C>T (p.Ser727=) c.2085C>T (p.Ser695=) c.-254C>T (n.-254C>T) c.2208C>T (p.Ser736=) c.2112C>T (p.Ser704=) c.2052C>T (p.Ser684=) c.1956C>T (p.Ser652=)	gnomAD v4
6	g.43048466G>C	CA3814039	CUL7,KLC4	c.1929C>G (p.Ser643Arg) n.2212C>G c.2025C>G (p.Ser675Arg) n.2228C>G n.2263C>G c.421C>G c.-553+4958G>C (n.-553+4958G>C) c.2181C>G (p.Ser727Arg) c.2085C>G (p.Ser695Arg) c.-254C>G (n.-254C>G) c.2208C>G (p.Ser736Arg) c.2112C>G (p.Ser704Arg) c.2052C>G (p.Ser684Arg) c.1956C>G (p.Ser652Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048466G=	CA1624357378	CUL7,KLC4	c.1929C= (p.Ser643=) n.2212C= c.2025C= (p.Ser675=) n.2228C= n.2263C= c.421C= c.-553+4958G= (n.-553+4958G=) c.2181C= (p.Ser727=) c.2085C= (p.Ser695=) c.-254C= (n.-254C=) c.2208C= (p.Ser736=) c.2112C= (p.Ser704=) c.2052C= (p.Ser684=) c.1956C= (p.Ser652=)
6	g.43048466G>T	CA364220575	CUL7,KLC4	c.1929C>A (p.Ser643Arg) n.2212C>A c.2025C>A (p.Ser675Arg) n.2228C>A n.2263C>A c.421C>A c.-553+4958G>T (n.-553+4958G>T) c.2181C>A (p.Ser727Arg) c.2085C>A (p.Ser695Arg) c.-254C>A (n.-254C>A) c.2208C>A (p.Ser736Arg) c.2112C>A (p.Ser704Arg) c.2052C>A (p.Ser684Arg) c.1956C>A (p.Ser652Arg)
6	g.43048467C>A	CA364220583	CUL7,KLC4	c.1928G>T (p.Ser643Ile) n.2211G>T c.2024G>T (p.Ser675Ile) n.2227G>T n.2262G>T c.420G>T c.-553+4959C>A (n.-553+4959C>A) c.2180G>T (p.Ser727Ile) c.2084G>T (p.Ser695Ile) c.-255G>T (n.-255G>T) c.2207G>T (p.Ser736Ile) c.2111G>T (p.Ser704Ile) c.2051G>T (p.Ser684Ile) c.1955G>T (p.Ser652Ile)
6	g.43048467C>G	CA364220580	CUL7,KLC4	c.1928G>C (p.Ser643Thr) n.2211G>C c.2024G>C (p.Ser675Thr) n.2227G>C n.2262G>C c.420G>C c.-553+4959C>G (n.-553+4959C>G) c.2180G>C (p.Ser727Thr) c.2084G>C (p.Ser695Thr) c.-255G>C (n.-255G>C) c.2207G>C (p.Ser736Thr) c.2111G>C (p.Ser704Thr) c.2051G>C (p.Ser684Thr) c.1955G>C (p.Ser652Thr)
6	g.43048467C>T	CA364220577	CUL7,KLC4	c.1928G>A (p.Ser643Asn) n.2211G>A c.2024G>A (p.Ser675Asn) n.2227G>A n.2262G>A c.420G>A c.-553+4959C>T (n.-553+4959C>T) c.2180G>A (p.Ser727Asn) c.2084G>A (p.Ser695Asn) c.-255G>A (n.-255G>A) c.2207G>A (p.Ser736Asn) c.2111G>A (p.Ser704Asn) c.2051G>A (p.Ser684Asn) c.1955G>A (p.Ser652Asn)	gnomAD v4
6	g.43048468T>A	CA364220586	CUL7,KLC4	c.1927A>T (p.Ser643Cys) n.2210A>T c.2023A>T (p.Ser675Cys) n.2226A>T n.2261A>T c.419A>T c.-553+4960T>A (n.-553+4960T>A) c.2179A>T (p.Ser727Cys) c.2083A>T (p.Ser695Cys) c.-256A>T (n.-256A>T) c.2206A>T (p.Ser736Cys) c.2110A>T (p.Ser704Cys) c.2050A>T (p.Ser684Cys) c.1954A>T (p.Ser652Cys)
6	g.43048468T>C	CA364220588	CUL7,KLC4	c.1927A>G (p.Ser643Gly) n.2210A>G c.2023A>G (p.Ser675Gly) n.2226A>G n.2261A>G c.419A>G c.-553+4960T>C (n.-553+4960T>C) c.2179A>G (p.Ser727Gly) c.2083A>G (p.Ser695Gly) c.-256A>G (n.-256A>G) c.2206A>G (p.Ser736Gly) c.2110A>G (p.Ser704Gly) c.2050A>G (p.Ser684Gly) c.1954A>G (p.Ser652Gly)	dbSNP gnomAD v4
6	g.43048468T>G	CA364220589	CUL7,KLC4	c.1927A>C (p.Ser643Arg) n.2210A>C c.2023A>C (p.Ser675Arg) n.2226A>C n.2261A>C c.419A>C c.-553+4960T>G (n.-553+4960T>G) c.2179A>C (p.Ser727Arg) c.2083A>C (p.Ser695Arg) c.-256A>C (n.-256A>C) c.2206A>C (p.Ser736Arg) c.2110A>C (p.Ser704Arg) c.2050A>C (p.Ser684Arg) c.1954A>C (p.Ser652Arg)
6	g.43048468T=	CA1624357379	CUL7,KLC4	c.1927A= (p.Ser643=) n.2210A= c.2023A= (p.Ser675=) n.2226A= n.2261A= c.419A= c.-553+4960T= (n.-553+4960T=) c.2179A= (p.Ser727=) c.2083A= (p.Ser695=) c.-256A= (n.-256A=) c.2206A= (p.Ser736=) c.2110A= (p.Ser704=) c.2050A= (p.Ser684=) c.1954A= (p.Ser652=)
6	g.43048468_43048482delinsTGAGGGCTTGCTCTA	CA1624357380	CUL7,KLC4	c.1913_1927delinsTAGAGCAAGCCCTCA (p.Leu638=) n.2196_2210delinsTAGAGCAAGCCCTCA c.2009_2023delinsTAGAGCAAGCCCTCA (p.Leu670=) n.2212_2226delinsTAGAGCAAGCCCTCA n.2247_2261delinsTAGAGCAAGCCCTCA c.405_419delinsTAGAGCAAGCCCTCA c.-553+4960_-553+4974delinsTGAGGGCTTGCTCTA (n.-553+4960_-553+4974delinsTGAGGGCTTGCTCTA) c.2165_2179delinsTAGAGCAAGCCCTCA (p.Leu722=) c.2069_2083delinsTAGAGCAAGCCCTCA (p.Leu690=) c.-270_-256delinsTAGAGCAAGCCCTCA (n.-270_-256delinsTAGAGCAAGCCCTCA) c.2192_2206delinsTAGAGCAAGCCCTCA (p.Leu731=) c.2096_2110delinsTAGAGCAAGCCCTCA (p.Leu699=) c.2036_2050delinsTAGAGCAAGCCCTCA (p.Leu679=) c.1940_1954delinsTAGAGCAAGCCCTCA (p.Leu647=)
6	g.43048469G>A	CA3814040	CUL7,KLC4	c.1926C>T (p.Leu642=) n.2209C>T c.2022C>T (p.Leu674=) n.2225C>T n.2260C>T c.418C>T c.-553+4961G>A (n.-553+4961G>A) c.2178C>T (p.Leu726=) c.2082C>T (p.Leu694=) c.-257C>T (n.-257C>T) c.2205C>T (p.Leu735=) c.2109C>T (p.Leu703=) c.2049C>T (p.Leu683=) c.1953C>T (p.Leu651=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048469G>C	CA450261994	CUL7,KLC4	c.1926C>G (p.Leu642=) n.2209C>G c.2022C>G (p.Leu674=) n.2225C>G n.2260C>G c.418C>G c.-553+4961G>C (n.-553+4961G>C) c.2178C>G (p.Leu726=) c.2082C>G (p.Leu694=) c.-257C>G (n.-257C>G) c.2205C>G (p.Leu735=) c.2109C>G (p.Leu703=) c.2049C>G (p.Leu683=) c.1953C>G (p.Leu651=)
6	g.43048469G=	CA1624357381	CUL7,KLC4	c.1926C= (p.Leu642=) n.2209C= c.2022C= (p.Leu674=) n.2225C= n.2260C= c.418C= c.-553+4961G= (n.-553+4961G=) c.2178C= (p.Leu726=) c.2082C= (p.Leu694=) c.-257C= (n.-257C=) c.2205C= (p.Leu735=) c.2109C= (p.Leu703=) c.2049C= (p.Leu683=) c.1953C= (p.Leu651=)
6	g.43048469G>T	CA450261992	CUL7,KLC4	c.1926C>A (p.Leu642=) n.2209C>A c.2022C>A (p.Leu674=) n.2225C>A n.2260C>A c.418C>A c.-553+4961G>T (n.-553+4961G>T) c.2178C>A (p.Leu726=) c.2082C>A (p.Leu694=) c.-257C>A (n.-257C>A) c.2205C>A (p.Leu735=) c.2109C>A (p.Leu703=) c.2049C>A (p.Leu683=) c.1953C>A (p.Leu651=)
6	g.43048471_43048484del	CA1624357382	CUL7,KLC4	c.1913_1926del (p.Leu638GlnfsTer?) n.2196_2209del c.2009_2022del (p.Leu670GlnfsTer?) n.2212_2225del n.2247_2260del c.405_418del c.-553+4963_-553+4976del (n.-553+4963_-553+4976del) c.2165_2178del (p.Leu722GlnfsTer?) c.2069_2082del (p.Leu690GlnfsTer?) c.-270_-257del (n.-270_-257del) c.2192_2205del (p.Leu731GlnfsTer?) c.2096_2109del (p.Leu699GlnfsTer?) c.2036_2049del (p.Leu679GlnfsTer?) c.1940_1953del (p.Leu647GlnfsTer?)	dbSNP
6	g.43048470A=	CA1624357383	CUL7,KLC4	c.1925T= (p.Leu642=) n.2208T= c.2021T= (p.Leu674=) n.2224T= n.2259T= c.417T= c.-553+4962A= (n.-553+4962A=) c.2177T= (p.Leu726=) c.2081T= (p.Leu694=) c.-258T= (n.-258T=) c.2204T= (p.Leu735=) c.2108T= (p.Leu703=) c.2048T= (p.Leu683=) c.1952T= (p.Leu651=)
6	g.43048470A>C	CA364220596	CUL7,KLC4	c.1925T>G (p.Leu642Arg) n.2208T>G c.2021T>G (p.Leu674Arg) n.2224T>G n.2259T>G c.417T>G c.-553+4962A>C (n.-553+4962A>C) c.2177T>G (p.Leu726Arg) c.2081T>G (p.Leu694Arg) c.-258T>G (n.-258T>G) c.2204T>G (p.Leu735Arg) c.2108T>G (p.Leu703Arg) c.2048T>G (p.Leu683Arg) c.1952T>G (p.Leu651Arg)
6	g.43048470A>G	CA364220597	CUL7,KLC4	c.1925T>C (p.Leu642Pro) n.2208T>C c.2021T>C (p.Leu674Pro) n.2224T>C n.2259T>C c.417T>C c.-553+4962A>G (n.-553+4962A>G) c.2177T>C (p.Leu726Pro) c.2081T>C (p.Leu694Pro) c.-258T>C (n.-258T>C) c.2204T>C (p.Leu735Pro) c.2108T>C (p.Leu703Pro) c.2048T>C (p.Leu683Pro) c.1952T>C (p.Leu651Pro)	dbSNP gnomAD v2 gnomAD v4
6	g.43048470A>T	CA364220600	CUL7,KLC4	c.1925T>A (p.Leu642His) n.2208T>A c.2021T>A (p.Leu674His) n.2224T>A n.2259T>A c.417T>A c.-553+4962A>T (n.-553+4962A>T) c.2177T>A (p.Leu726His) c.2081T>A (p.Leu694His) c.-258T>A (n.-258T>A) c.2204T>A (p.Leu735His) c.2108T>A (p.Leu703His) c.2048T>A (p.Leu683His) c.1952T>A (p.Leu651His)
6	g.43048471G>A	CA364220614	CUL7,KLC4	c.1924C>T (p.Leu642Phe) n.2207C>T c.2020C>T (p.Leu674Phe) n.2223C>T n.2258C>T c.416C>T c.-553+4963G>A (n.-553+4963G>A) c.2176C>T (p.Leu726Phe) c.2080C>T (p.Leu694Phe) c.-259C>T (n.-259C>T) c.2203C>T (p.Leu735Phe) c.2107C>T (p.Leu703Phe) c.2047C>T (p.Leu683Phe) c.1951C>T (p.Leu651Phe)	COSMIC COSMIC
6	g.43048471G>C	CA364220617	CUL7,KLC4	c.1924C>G (p.Leu642Val) n.2207C>G c.2020C>G (p.Leu674Val) n.2223C>G n.2258C>G c.416C>G c.-553+4963G>C (n.-553+4963G>C) c.2176C>G (p.Leu726Val) c.2080C>G (p.Leu694Val) c.-259C>G (n.-259C>G) c.2203C>G (p.Leu735Val) c.2107C>G (p.Leu703Val) c.2047C>G (p.Leu683Val) c.1951C>G (p.Leu651Val)
6	g.43048471G>T	CA364220620	CUL7,KLC4	c.1924C>A (p.Leu642Ile) n.2207C>A c.2020C>A (p.Leu674Ile) n.2223C>A n.2258C>A c.416C>A c.-553+4963G>T (n.-553+4963G>T) c.2176C>A (p.Leu726Ile) c.2080C>A (p.Leu694Ile) c.-259C>A (n.-259C>A) c.2203C>A (p.Leu735Ile) c.2107C>A (p.Leu703Ile) c.2047C>A (p.Leu683Ile) c.1951C>A (p.Leu651Ile)
6	g.43048472G>A	CA450261996	CUL7,KLC4	c.1923C>T (p.Ala641=) n.2206C>T c.2019C>T (p.Ala673=) n.2222C>T n.2257C>T c.415C>T c.-553+4964G>A (n.-553+4964G>A) c.2175C>T (p.Ala725=) c.2079C>T (p.Ala693=) c.-260C>T (n.-260C>T) c.2202C>T (p.Ala734=) c.2106C>T (p.Ala702=) c.2046C>T (p.Ala682=) c.1950C>T (p.Ala650=)
6	g.43048472G>C	CA450261998	CUL7,KLC4	c.1923C>G (p.Ala641=) n.2206C>G c.2019C>G (p.Ala673=) n.2222C>G n.2257C>G c.415C>G c.-553+4964G>C (n.-553+4964G>C) c.2175C>G (p.Ala725=) c.2079C>G (p.Ala693=) c.-260C>G (n.-260C>G) c.2202C>G (p.Ala734=) c.2106C>G (p.Ala702=) c.2046C>G (p.Ala682=) c.1950C>G (p.Ala650=)	gnomAD v4
6	g.43048472G>T	CA450261997	CUL7,KLC4	c.1923C>A (p.Ala641=) n.2206C>A c.2019C>A (p.Ala673=) n.2222C>A n.2257C>A c.415C>A c.-553+4964G>T (n.-553+4964G>T) c.2175C>A (p.Ala725=) c.2079C>A (p.Ala693=) c.-260C>A (n.-260C>A) c.2202C>A (p.Ala734=) c.2106C>A (p.Ala702=) c.2046C>A (p.Ala682=) c.1950C>A (p.Ala650=)	COSMIC COSMIC
6	g.43048473G>A	CA364220623	CUL7,KLC4	c.1922C>T (p.Ala641Val) n.2205C>T c.2018C>T (p.Ala673Val) n.2221C>T n.2256C>T c.414C>T c.-553+4965G>A (n.-553+4965G>A) c.2174C>T (p.Ala725Val) c.2078C>T (p.Ala693Val) c.-261C>T (n.-261C>T) c.2201C>T (p.Ala734Val) c.2105C>T (p.Ala702Val) c.2045C>T (p.Ala682Val) c.1949C>T (p.Ala650Val)	dbSNP gnomAD v2 gnomAD v4
6	g.43048473G>C	CA364220628	CUL7,KLC4	c.1922C>G (p.Ala641Gly) n.2205C>G c.2018C>G (p.Ala673Gly) n.2221C>G n.2256C>G c.414C>G c.-553+4965G>C (n.-553+4965G>C) c.2174C>G (p.Ala725Gly) c.2078C>G (p.Ala693Gly) c.-261C>G (n.-261C>G) c.2201C>G (p.Ala734Gly) c.2105C>G (p.Ala702Gly) c.2045C>G (p.Ala682Gly) c.1949C>G (p.Ala650Gly)
6	g.43048473G=	CA1624357384	CUL7,KLC4	c.1922C= (p.Ala641=) n.2205C= c.2018C= (p.Ala673=) n.2221C= n.2256C= c.414C= c.-553+4965G= (n.-553+4965G=) c.2174C= (p.Ala725=) c.2078C= (p.Ala693=) c.-261C= (n.-261C=) c.2201C= (p.Ala734=) c.2105C= (p.Ala702=) c.2045C= (p.Ala682=) c.1949C= (p.Ala650=)
6	g.43048473G>T	CA364220629	CUL7,KLC4	c.1922C>A (p.Ala641Asp) n.2205C>A c.2018C>A (p.Ala673Asp) n.2221C>A n.2256C>A c.414C>A c.-553+4965G>T (n.-553+4965G>T) c.2174C>A (p.Ala725Asp) c.2078C>A (p.Ala693Asp) c.-261C>A (n.-261C>A) c.2201C>A (p.Ala734Asp) c.2105C>A (p.Ala702Asp) c.2045C>A (p.Ala682Asp) c.1949C>A (p.Ala650Asp)
6	g.43048474C>A	CA364220632	CUL7,KLC4	c.1921G>T (p.Ala641Ser) n.2204G>T c.2017G>T (p.Ala673Ser) n.2220G>T n.2255G>T c.413G>T c.-553+4966C>A (n.-553+4966C>A) c.2173G>T (p.Ala725Ser) c.2077G>T (p.Ala693Ser) c.-262G>T (n.-262G>T) c.2200G>T (p.Ala734Ser) c.2104G>T (p.Ala702Ser) c.2044G>T (p.Ala682Ser) c.1948G>T (p.Ala650Ser)
6	g.43048474C=	CA1624357385	CUL7,KLC4	c.1921G= (p.Ala641=) n.2204G= c.2017G= (p.Ala673=) n.2220G= n.2255G= c.413G= c.-553+4966C= (n.-553+4966C=) c.2173G= (p.Ala725=) c.2077G= (p.Ala693=) c.-262G= (n.-262G=) c.2200G= (p.Ala734=) c.2104G= (p.Ala702=) c.2044G= (p.Ala682=) c.1948G= (p.Ala650=)
6	g.43048474C>G	CA364220636	CUL7,KLC4	c.1921G>C (p.Ala641Pro) n.2204G>C c.2017G>C (p.Ala673Pro) n.2220G>C n.2255G>C c.413G>C c.-553+4966C>G (n.-553+4966C>G) c.2173G>C (p.Ala725Pro) c.2077G>C (p.Ala693Pro) c.-262G>C (n.-262G>C) c.2200G>C (p.Ala734Pro) c.2104G>C (p.Ala702Pro) c.2044G>C (p.Ala682Pro) c.1948G>C (p.Ala650Pro)
6	g.43048474C>T	CA364220633	CUL7,KLC4	c.1921G>A (p.Ala641Thr) n.2204G>A c.2017G>A (p.Ala673Thr) n.2220G>A n.2255G>A c.413G>A c.-553+4966C>T (n.-553+4966C>T) c.2173G>A (p.Ala725Thr) c.2077G>A (p.Ala693Thr) c.-262G>A (n.-262G>A) c.2200G>A (p.Ala734Thr) c.2104G>A (p.Ala702Thr) c.2044G>A (p.Ala682Thr) c.1948G>A (p.Ala650Thr)	dbSNP gnomAD v4
6	g.43048475T>A	CA364220640	CUL7,KLC4	c.1920A>T (p.Gln640His) n.2203A>T c.2016A>T (p.Gln672His) n.2219A>T n.2254A>T c.412A>T c.-553+4967T>A (n.-553+4967T>A) c.2172A>T (p.Gln724His) c.2076A>T (p.Gln692His) c.-263A>T (n.-263A>T) c.2199A>T (p.Gln733His) c.2103A>T (p.Gln701His) c.2043A>T (p.Gln681His) c.1947A>T (p.Gln649His)
6	g.43048475T>C	CA450262000	CUL7,KLC4	c.1920A>G (p.Gln640=) n.2203A>G c.2016A>G (p.Gln672=) n.2219A>G n.2254A>G c.412A>G c.-553+4967T>C (n.-553+4967T>C) c.2172A>G (p.Gln724=) c.2076A>G (p.Gln692=) c.-263A>G (n.-263A>G) c.2199A>G (p.Gln733=) c.2103A>G (p.Gln701=) c.2043A>G (p.Gln681=) c.1947A>G (p.Gln649=)
6	g.43048475T>G	CA364220644	CUL7,KLC4	c.1920A>C (p.Gln640His) n.2203A>C c.2016A>C (p.Gln672His) n.2219A>C n.2254A>C c.412A>C c.-553+4967T>G (n.-553+4967T>G) c.2172A>C (p.Gln724His) c.2076A>C (p.Gln692His) c.-263A>C (n.-263A>C) c.2199A>C (p.Gln733His) c.2103A>C (p.Gln701His) c.2043A>C (p.Gln681His) c.1947A>C (p.Gln649His)
6	g.43048476T>A	CA138249285	CUL7,KLC4	c.1919A>T (p.Gln640Leu) n.2202A>T c.2015A>T (p.Gln672Leu) n.2218A>T n.2253A>T c.411A>T c.-553+4968T>A (n.-553+4968T>A) c.2171A>T (p.Gln724Leu) c.2075A>T (p.Gln692Leu) c.-264A>T (n.-264A>T) c.2198A>T (p.Gln733Leu) c.2102A>T (p.Gln701Leu) c.2042A>T (p.Gln681Leu) c.1946A>T (p.Gln649Leu)	dbSNP gnomAD v3 gnomAD v4
6	g.43048476T>C	CA364220650	CUL7,KLC4	c.1919A>G (p.Gln640Arg) n.2202A>G c.2015A>G (p.Gln672Arg) n.2218A>G n.2253A>G c.411A>G c.-553+4968T>C (n.-553+4968T>C) c.2171A>G (p.Gln724Arg) c.2075A>G (p.Gln692Arg) c.-264A>G (n.-264A>G) c.2198A>G (p.Gln733Arg) c.2102A>G (p.Gln701Arg) c.2042A>G (p.Gln681Arg) c.1946A>G (p.Gln649Arg)	dbSNP
6	g.43048476T>G	CA364220654	CUL7,KLC4	c.1919A>C (p.Gln640Pro) n.2202A>C c.2015A>C (p.Gln672Pro) n.2218A>C n.2253A>C c.411A>C c.-553+4968T>G (n.-553+4968T>G) c.2171A>C (p.Gln724Pro) c.2075A>C (p.Gln692Pro) c.-264A>C (n.-264A>C) c.2198A>C (p.Gln733Pro) c.2102A>C (p.Gln701Pro) c.2042A>C (p.Gln681Pro) c.1946A>C (p.Gln649Pro)
6	g.43048476T=	CA1624357386	CUL7,KLC4	c.1919A= (p.Gln640=) n.2202A= c.2015A= (p.Gln672=) n.2218A= n.2253A= c.411A= c.-553+4968T= (n.-553+4968T=) c.2171A= (p.Gln724=) c.2075A= (p.Gln692=) c.-264A= (n.-264A=) c.2198A= (p.Gln733=) c.2102A= (p.Gln701=) c.2042A= (p.Gln681=) c.1946A= (p.Gln649=)
6	g.43048477G>A	CA138249287	CUL7,KLC4	c.1918C>T (p.Gln640Ter) n.2201C>T c.2014C>T (p.Gln672Ter) n.2217C>T n.2252C>T c.410C>T c.-553+4969G>A (n.-553+4969G>A) c.2170C>T (p.Gln724Ter) c.2074C>T (p.Gln692Ter) c.-265C>T (n.-265C>T) c.2197C>T (p.Gln733Ter) c.2101C>T (p.Gln701Ter) c.2041C>T (p.Gln681Ter) c.1945C>T (p.Gln649Ter)	dbSNP gnomAD v3 gnomAD v4
6	g.43048477G>C	CA364220663	CUL7,KLC4	c.1918C>G (p.Gln640Glu) n.2201C>G c.2014C>G (p.Gln672Glu) n.2217C>G n.2252C>G c.410C>G c.-553+4969G>C (n.-553+4969G>C) c.2170C>G (p.Gln724Glu) c.2074C>G (p.Gln692Glu) c.-265C>G (n.-265C>G) c.2197C>G (p.Gln733Glu) c.2101C>G (p.Gln701Glu) c.2041C>G (p.Gln681Glu) c.1945C>G (p.Gln649Glu)
6	g.43048477G=	CA1624357387	CUL7,KLC4	c.1918C= (p.Gln640=) n.2201C= c.2014C= (p.Gln672=) n.2217C= n.2252C= c.410C= c.-553+4969G= (n.-553+4969G=) c.2170C= (p.Gln724=) c.2074C= (p.Gln692=) c.-265C= (n.-265C=) c.2197C= (p.Gln733=) c.2101C= (p.Gln701=) c.2041C= (p.Gln681=) c.1945C= (p.Gln649=)
6	g.43048477G>T	CA364220664	CUL7,KLC4	c.1918C>A (p.Gln640Lys) n.2201C>A c.2014C>A (p.Gln672Lys) n.2217C>A n.2252C>A c.410C>A c.-553+4969G>T (n.-553+4969G>T) c.2170C>A (p.Gln724Lys) c.2074C>A (p.Gln692Lys) c.-265C>A (n.-265C>A) c.2197C>A (p.Gln733Lys) c.2101C>A (p.Gln701Lys) c.2041C>A (p.Gln681Lys) c.1945C>A (p.Gln649Lys)
6	g.43048478C>A	CA364220666	CUL7,KLC4	c.1917G>T (p.Glu639Asp) n.2200G>T c.2013G>T (p.Glu671Asp) n.2216G>T n.2251G>T c.409G>T c.-553+4970C>A (n.-553+4970C>A) c.2169G>T (p.Glu723Asp) c.2073G>T (p.Glu691Asp) c.-266G>T (n.-266G>T) c.2196G>T (p.Glu732Asp) c.2100G>T (p.Glu700Asp) c.2040G>T (p.Glu680Asp) c.1944G>T (p.Glu648Asp)
6	g.43048478C>G	CA364220673	CUL7,KLC4	c.1917G>C (p.Glu639Asp) n.2200G>C c.2013G>C (p.Glu671Asp) n.2216G>C n.2251G>C c.409G>C c.-553+4970C>G (n.-553+4970C>G) c.2169G>C (p.Glu723Asp) c.2073G>C (p.Glu691Asp) c.-266G>C (n.-266G>C) c.2196G>C (p.Glu732Asp) c.2100G>C (p.Glu700Asp) c.2040G>C (p.Glu680Asp) c.1944G>C (p.Glu648Asp)
6	g.43048478C>T	CA450262003	CUL7,KLC4	c.1917G>A (p.Glu639=) n.2200G>A c.2013G>A (p.Glu671=) n.2216G>A n.2251G>A c.409G>A c.-553+4970C>T (n.-553+4970C>T) c.2169G>A (p.Glu723=) c.2073G>A (p.Glu691=) c.-266G>A (n.-266G>A) c.2196G>A (p.Glu732=) c.2100G>A (p.Glu700=) c.2040G>A (p.Glu680=) c.1944G>A (p.Glu648=)
6	g.43048479T>A	CA364220679	CUL7,KLC4	c.1916A>T (p.Glu639Val) n.2199A>T c.2012A>T (p.Glu671Val) n.2215A>T n.2250A>T c.408A>T c.-553+4971T>A (n.-553+4971T>A) c.2168A>T (p.Glu723Val) c.2072A>T (p.Glu691Val) c.-267A>T (n.-267A>T) c.2195A>T (p.Glu732Val) c.2099A>T (p.Glu700Val) c.2039A>T (p.Glu680Val) c.1943A>T (p.Glu648Val)
6	g.43048479T>C	CA364220683	CUL7,KLC4	c.1916A>G (p.Glu639Gly) n.2199A>G c.2012A>G (p.Glu671Gly) n.2215A>G n.2250A>G c.408A>G c.-553+4971T>C (n.-553+4971T>C) c.2168A>G (p.Glu723Gly) c.2072A>G (p.Glu691Gly) c.-267A>G (n.-267A>G) c.2195A>G (p.Glu732Gly) c.2099A>G (p.Glu700Gly) c.2039A>G (p.Glu680Gly) c.1943A>G (p.Glu648Gly)
6	g.43048479T>G	CA364220678	CUL7,KLC4	c.1916A>C (p.Glu639Ala) n.2199A>C c.2012A>C (p.Glu671Ala) n.2215A>C n.2250A>C c.408A>C c.-553+4971T>G (n.-553+4971T>G) c.2168A>C (p.Glu723Ala) c.2072A>C (p.Glu691Ala) c.-267A>C (n.-267A>C) c.2195A>C (p.Glu732Ala) c.2099A>C (p.Glu700Ala) c.2039A>C (p.Glu680Ala) c.1943A>C (p.Glu648Ala)
6	g.43048480C>A	CA364220694	CUL7,KLC4	c.1915G>T (p.Glu639Ter) n.2198G>T c.2011G>T (p.Glu671Ter) n.2214G>T n.2249G>T c.407G>T c.-553+4972C>A (n.-553+4972C>A) c.2167G>T (p.Glu723Ter) c.2071G>T (p.Glu691Ter) c.-268G>T (n.-268G>T) c.2194G>T (p.Glu732Ter) c.2098G>T (p.Glu700Ter) c.2038G>T (p.Glu680Ter) c.1942G>T (p.Glu648Ter)
6	g.43048480C>G	CA364220688	CUL7,KLC4	c.1915G>C (p.Glu639Gln) n.2198G>C c.2011G>C (p.Glu671Gln) n.2214G>C n.2249G>C c.407G>C c.-553+4972C>G (n.-553+4972C>G) c.2167G>C (p.Glu723Gln) c.2071G>C (p.Glu691Gln) c.-268G>C (n.-268G>C) c.2194G>C (p.Glu732Gln) c.2098G>C (p.Glu700Gln) c.2038G>C (p.Glu680Gln) c.1942G>C (p.Glu648Gln)
6	g.43048480C>T	CA364220692	CUL7,KLC4	c.1915G>A (p.Glu639Lys) n.2198G>A c.2011G>A (p.Glu671Lys) n.2214G>A n.2249G>A c.407G>A c.-553+4972C>T (n.-553+4972C>T) c.2167G>A (p.Glu723Lys) c.2071G>A (p.Glu691Lys) c.-268G>A (n.-268G>A) c.2194G>A (p.Glu732Lys) c.2098G>A (p.Glu700Lys) c.2038G>A (p.Glu680Lys) c.1942G>A (p.Glu648Lys)	gnomAD v4
6	g.43048481T>A	CA450262008	CUL7,KLC4	c.1914A>T (p.Leu638=) n.2197A>T c.2010A>T (p.Leu670=) n.2213A>T n.2248A>T c.406A>T c.-553+4973T>A (n.-553+4973T>A) c.2166A>T (p.Leu722=) c.2070A>T (p.Leu690=) c.-269A>T (n.-269A>T) c.2193A>T (p.Leu731=) c.2097A>T (p.Leu699=) c.2037A>T (p.Leu679=) c.1941A>T (p.Leu647=)
6	g.43048481T>C	CA450262011	CUL7,KLC4	c.1914A>G (p.Leu638=) n.2197A>G c.2010A>G (p.Leu670=) n.2213A>G n.2248A>G c.406A>G c.-553+4973T>C (n.-553+4973T>C) c.2166A>G (p.Leu722=) c.2070A>G (p.Leu690=) c.-269A>G (n.-269A>G) c.2193A>G (p.Leu731=) c.2097A>G (p.Leu699=) c.2037A>G (p.Leu679=) c.1941A>G (p.Leu647=)
6	g.43048481T>G	CA450262014	CUL7,KLC4	c.1914A>C (p.Leu638=) n.2197A>C c.2010A>C (p.Leu670=) n.2213A>C n.2248A>C c.406A>C c.-553+4973T>G (n.-553+4973T>G) c.2166A>C (p.Leu722=) c.2070A>C (p.Leu690=) c.-269A>C (n.-269A>C) c.2193A>C (p.Leu731=) c.2097A>C (p.Leu699=) c.2037A>C (p.Leu679=) c.1941A>C (p.Leu647=)
6	g.43048481_43048482delinsTA	CA1624357388	CUL7,KLC4	c.1913_1914delinsTA (p.Leu638=) n.2196_2197delinsTA c.2009_2010delinsTA (p.Leu670=) n.2212_2213delinsTA n.2247_2248delinsTA c.405_406delinsTA c.-553+4973_-553+4974delinsTA (n.-553+4973_-553+4974delinsTA) c.2165_2166delinsTA (p.Leu722=) c.2069_2070delinsTA (p.Leu690=) c.-270_-269delinsTA (n.-270_-269delinsTA) c.2192_2193delinsTA (p.Leu731=) c.2096_2097delinsTA (p.Leu699=) c.2036_2037delinsTA (p.Leu679=) c.1940_1941delinsTA (p.Leu647=)
6	g.43048482del	CA824872600	CUL7,KLC4	c.1913del (p.Leu638GlnfsTer?) n.2196del c.2009del (p.Leu670GlnfsTer?) n.2212del n.2247del c.405del c.-553+4974del (n.-553+4974del) c.2165del (p.Leu722GlnfsTer?) c.2069del (p.Leu690GlnfsTer?) c.-270del (n.-270del) c.2192del (p.Leu731GlnfsTer?) c.2096del (p.Leu699GlnfsTer?) c.2036del (p.Leu679GlnfsTer?) c.1940del (p.Leu647GlnfsTer?)	ClinVar dbSNP
6	g.43048482A=	CA1624357389	CUL7,KLC4	c.1913T= (p.Leu638=) n.2196T= c.2009T= (p.Leu670=) n.2212T= n.2247T= c.405T= c.-553+4974A= (n.-553+4974A=) c.2165T= (p.Leu722=) c.2069T= (p.Leu690=) c.-270T= (n.-270T=) c.2192T= (p.Leu731=) c.2096T= (p.Leu699=) c.2036T= (p.Leu679=) c.1940T= (p.Leu647=)
6	g.43048482A>C	CA3814041	CUL7,KLC4	c.1913T>G (p.Leu638Arg) n.2196T>G c.2009T>G (p.Leu670Arg) n.2212T>G n.2247T>G c.405T>G c.-553+4974A>C (n.-553+4974A>C) c.2165T>G (p.Leu722Arg) c.2069T>G (p.Leu690Arg) c.-270T>G (n.-270T>G) c.2192T>G (p.Leu731Arg) c.2096T>G (p.Leu699Arg) c.2036T>G (p.Leu679Arg) c.1940T>G (p.Leu647Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048482A>G	CA364220708	CUL7,KLC4	c.1913T>C (p.Leu638Pro) n.2196T>C c.2009T>C (p.Leu670Pro) n.2212T>C n.2247T>C c.405T>C c.-553+4974A>G (n.-553+4974A>G) c.2165T>C (p.Leu722Pro) c.2069T>C (p.Leu690Pro) c.-270T>C (n.-270T>C) c.2192T>C (p.Leu731Pro) c.2096T>C (p.Leu699Pro) c.2036T>C (p.Leu679Pro) c.1940T>C (p.Leu647Pro)
6	g.43048482A>T	CA364220711	CUL7,KLC4	c.1913T>A (p.Leu638Gln) n.2196T>A c.2009T>A (p.Leu670Gln) n.2212T>A n.2247T>A c.405T>A c.-553+4974A>T (n.-553+4974A>T) c.2165T>A (p.Leu722Gln) c.2069T>A (p.Leu690Gln) c.-270T>A (n.-270T>A) c.2192T>A (p.Leu731Gln) c.2096T>A (p.Leu699Gln) c.2036T>A (p.Leu679Gln) c.1940T>A (p.Leu647Gln)
6	g.43048483G>A	CA450262016	CUL7,KLC4	c.1912C>T (p.Leu638=) n.2195C>T c.2008C>T (p.Leu670=) n.2211C>T n.2246C>T c.404C>T c.-553+4975G>A (n.-553+4975G>A) c.2164C>T (p.Leu722=) c.2068C>T (p.Leu690=) c.-271C>T (n.-271C>T) c.2191C>T (p.Leu731=) c.2095C>T (p.Leu699=) c.2035C>T (p.Leu679=) c.1939C>T (p.Leu647=)
6	g.43048483G>C	CA364220719	CUL7,KLC4	c.1912C>G (p.Leu638Val) n.2195C>G c.2008C>G (p.Leu670Val) n.2211C>G n.2246C>G c.404C>G c.-553+4975G>C (n.-553+4975G>C) c.2164C>G (p.Leu722Val) c.2068C>G (p.Leu690Val) c.-271C>G (n.-271C>G) c.2191C>G (p.Leu731Val) c.2095C>G (p.Leu699Val) c.2035C>G (p.Leu679Val) c.1939C>G (p.Leu647Val)	dbSNP gnomAD v2
6	g.43048483G=	CA1624357390	CUL7,KLC4	c.1912C= (p.Leu638=) n.2195C= c.2008C= (p.Leu670=) n.2211C= n.2246C= c.404C= c.-553+4975G= (n.-553+4975G=) c.2164C= (p.Leu722=) c.2068C= (p.Leu690=) c.-271C= (n.-271C=) c.2191C= (p.Leu731=) c.2095C= (p.Leu699=) c.2035C= (p.Leu679=) c.1939C= (p.Leu647=)
6	g.43048483G>T	CA364220720	CUL7,KLC4	c.1912C>A (p.Leu638Ile) n.2195C>A c.2008C>A (p.Leu670Ile) n.2211C>A n.2246C>A c.404C>A c.-553+4975G>T (n.-553+4975G>T) c.2164C>A (p.Leu722Ile) c.2068C>A (p.Leu690Ile) c.-271C>A (n.-271C>A) c.2191C>A (p.Leu731Ile) c.2095C>A (p.Leu699Ile) c.2035C>A (p.Leu679Ile) c.1939C>A (p.Leu647Ile)
6	g.43048484A>C	CA364220723	CUL7,KLC4	c.1911T>G (p.Asp637Glu) n.2194T>G c.2007T>G (p.Asp669Glu) n.2210T>G n.2245T>G c.403T>G c.-553+4976A>C (n.-553+4976A>C) c.2163T>G (p.Asp721Glu) c.2067T>G (p.Asp689Glu) c.-272T>G (n.-272T>G) c.2190T>G (p.Asp730Glu) c.2094T>G (p.Asp698Glu) c.2034T>G (p.Asp678Glu) c.1938T>G (p.Asp646Glu)
6	g.43048484A>G	CA450262018	CUL7,KLC4	c.1911T>C (p.Asp637=) n.2194T>C c.2007T>C (p.Asp669=) n.2210T>C n.2245T>C c.403T>C c.-553+4976A>G (n.-553+4976A>G) c.2163T>C (p.Asp721=) c.2067T>C (p.Asp689=) c.-272T>C (n.-272T>C) c.2190T>C (p.Asp730=) c.2094T>C (p.Asp698=) c.2034T>C (p.Asp678=) c.1938T>C (p.Asp646=)
6	g.43048484A>T	CA364220726	CUL7,KLC4	c.1911T>A (p.Asp637Glu) n.2194T>A c.2007T>A (p.Asp669Glu) n.2210T>A n.2245T>A c.403T>A c.-553+4976A>T (n.-553+4976A>T) c.2163T>A (p.Asp721Glu) c.2067T>A (p.Asp689Glu) c.-272T>A (n.-272T>A) c.2190T>A (p.Asp730Glu) c.2094T>A (p.Asp698Glu) c.2034T>A (p.Asp678Glu) c.1938T>A (p.Asp646Glu)
6	g.43048485T>A	CA364220730	CUL7,KLC4	c.1910A>T (p.Asp637Val) n.2193A>T c.2006A>T (p.Asp669Val) n.2209A>T n.2244A>T c.402A>T c.-553+4977T>A (n.-553+4977T>A) c.2162A>T (p.Asp721Val) c.2066A>T (p.Asp689Val) c.-273A>T (n.-273A>T) c.2189A>T (p.Asp730Val) c.2093A>T (p.Asp698Val) c.2033A>T (p.Asp678Val) c.1937A>T (p.Asp646Val)
6	g.43048485T>C	CA364220735	CUL7,KLC4	c.1910A>G (p.Asp637Gly) n.2193A>G c.2006A>G (p.Asp669Gly) n.2209A>G n.2244A>G c.402A>G c.-553+4977T>C (n.-553+4977T>C) c.2162A>G (p.Asp721Gly) c.2066A>G (p.Asp689Gly) c.-273A>G (n.-273A>G) c.2189A>G (p.Asp730Gly) c.2093A>G (p.Asp698Gly) c.2033A>G (p.Asp678Gly) c.1937A>G (p.Asp646Gly)	gnomAD v4
6	g.43048485T>G	CA364220738	CUL7,KLC4	c.1910A>C (p.Asp637Ala) n.2193A>C c.2006A>C (p.Asp669Ala) n.2209A>C n.2244A>C c.402A>C c.-553+4977T>G (n.-553+4977T>G) c.2162A>C (p.Asp721Ala) c.2066A>C (p.Asp689Ala) c.-273A>C (n.-273A>C) c.2189A>C (p.Asp730Ala) c.2093A>C (p.Asp698Ala) c.2033A>C (p.Asp678Ala) c.1937A>C (p.Asp646Ala)
6	g.43048485_43048488delinsTCCA	CA1624357391	CUL7,KLC4	c.1907_1910delinsTGGA (p.Leu636=) n.2190_2193delinsTGGA c.2003_2006delinsTGGA (p.Leu668=) n.2206_2209delinsTGGA n.2241_2244delinsTGGA c.399_402delinsTGGA c.-553+4977_-553+4980delinsTCCA (n.-553+4977_-553+4980delinsTCCA) c.2159_2162delinsTGGA (p.Leu720=) c.2063_2066delinsTGGA (p.Leu688=) c.-276_-273delinsTGGA (n.-276_-273delinsTGGA) c.2186_2189delinsTGGA (p.Leu729=) c.2090_2093delinsTGGA (p.Leu697=) c.2030_2033delinsTGGA (p.Leu677=) c.1934_1937delinsTGGA (p.Leu645=)
6	g.43048486C>A	CA364220747	CUL7,KLC4	c.1909G>T (p.Asp637Tyr) n.2192G>T c.2005G>T (p.Asp669Tyr) n.2208G>T n.2243G>T c.401G>T c.-553+4978C>A (n.-553+4978C>A) c.2161G>T (p.Asp721Tyr) c.2065G>T (p.Asp689Tyr) c.-274G>T (n.-274G>T) c.2188G>T (p.Asp730Tyr) c.2092G>T (p.Asp698Tyr) c.2032G>T (p.Asp678Tyr) c.1936G>T (p.Asp646Tyr)	dbSNP
6	g.43048486C=	CA1624357393	CUL7,KLC4	c.1909G= (p.Asp637=) n.2192G= c.2005G= (p.Asp669=) n.2208G= n.2243G= c.401G= c.-553+4978C= (n.-553+4978C=) c.2161G= (p.Asp721=) c.2065G= (p.Asp689=) c.-274G= (n.-274G=) c.2188G= (p.Asp730=) c.2092G= (p.Asp698=) c.2032G= (p.Asp678=) c.1936G= (p.Asp646=)
6	g.43048486C>G	CA364220744	CUL7,KLC4	c.1909G>C (p.Asp637His) n.2192G>C c.2005G>C (p.Asp669His) n.2208G>C n.2243G>C c.401G>C c.-553+4978C>G (n.-553+4978C>G) c.2161G>C (p.Asp721His) c.2065G>C (p.Asp689His) c.-274G>C (n.-274G>C) c.2188G>C (p.Asp730His) c.2092G>C (p.Asp698His) c.2032G>C (p.Asp678His) c.1936G>C (p.Asp646His)
6	g.43048486C>T	CA364220741	CUL7,KLC4	c.1909G>A (p.Asp637Asn) n.2192G>A c.2005G>A (p.Asp669Asn) n.2208G>A n.2243G>A c.401G>A c.-553+4978C>T (n.-553+4978C>T) c.2161G>A (p.Asp721Asn) c.2065G>A (p.Asp689Asn) c.-274G>A (n.-274G>A) c.2188G>A (p.Asp730Asn) c.2092G>A (p.Asp698Asn) c.2032G>A (p.Asp678Asn) c.1936G>A (p.Asp646Asn)
6	g.43048486_43048488del	CA1624357392	CUL7,KLC4	c.1907_1909del (p.Leu636_Asp637delinsHis) n.2190_2192del c.2003_2005del (p.Leu668_Asp669delinsHis) n.2206_2208del n.2241_2243del c.399_401del c.-553+4978_-553+4980del (n.-553+4978_-553+4980del) c.2159_2161del (p.Leu720_Asp721delinsHis) c.2063_2065del (p.Leu688_Asp689delinsHis) c.-276_-274del (n.-276_-274del) c.2186_2188del (p.Leu729_Asp730delinsHis) c.2090_2092del (p.Leu697_Asp698delinsHis) c.2030_2032del (p.Leu677_Asp678delinsHis) c.1934_1936del (p.Leu645_Asp646delinsHis)	dbSNP
6	g.43048487C>A	CA450262026	CUL7,KLC4	c.1908G>T (p.Leu636=) n.2191G>T c.2004G>T (p.Leu668=) n.2207G>T n.2242G>T c.400G>T c.-553+4979C>A (n.-553+4979C>A) c.2160G>T (p.Leu720=) c.2064G>T (p.Leu688=) c.-275G>T (n.-275G>T) c.2187G>T (p.Leu729=) c.2091G>T (p.Leu697=) c.2031G>T (p.Leu677=) c.1935G>T (p.Leu645=)
6	g.43048487C>G	CA450262027	CUL7,KLC4	c.1908G>C (p.Leu636=) n.2191G>C c.2004G>C (p.Leu668=) n.2207G>C n.2242G>C c.400G>C c.-553+4979C>G (n.-553+4979C>G) c.2160G>C (p.Leu720=) c.2064G>C (p.Leu688=) c.-275G>C (n.-275G>C) c.2187G>C (p.Leu729=) c.2091G>C (p.Leu697=) c.2031G>C (p.Leu677=) c.1935G>C (p.Leu645=)
6	g.43048487C>T	CA450262029	CUL7,KLC4	c.1908G>A (p.Leu636=) n.2191G>A c.2004G>A (p.Leu668=) n.2207G>A n.2242G>A c.400G>A c.-553+4979C>T (n.-553+4979C>T) c.2160G>A (p.Leu720=) c.2064G>A (p.Leu688=) c.-275G>A (n.-275G>A) c.2187G>A (p.Leu729=) c.2091G>A (p.Leu697=) c.2031G>A (p.Leu677=) c.1935G>A (p.Leu645=)	gnomAD v4
6	g.43048487_43048490delinsCAGG	CA1624357394	CUL7,KLC4	c.1905_1908delinsCCTG (p.Leu635=) n.2188_2191delinsCCTG c.2001_2004delinsCCTG (p.Leu667=) n.2204_2207delinsCCTG n.2239_2242delinsCCTG c.397_400delinsCCTG c.-553+4979_-553+4982delinsCAGG (n.-553+4979_-553+4982delinsCAGG) c.2157_2160delinsCCTG (p.Leu719=) c.2061_2064delinsCCTG (p.Leu687=) c.-278_-275delinsCCTG (n.-278_-275delinsCCTG) c.2184_2187delinsCCTG (p.Leu728=) c.2088_2091delinsCCTG (p.Leu696=) c.2028_2031delinsCCTG (p.Leu676=) c.1932_1935delinsCCTG (p.Leu644=)
6	g.43048488A=	CA1624357395	CUL7,KLC4	c.1907T= (p.Leu636=) n.2190T= c.2003T= (p.Leu668=) n.2206T= n.2241T= c.399T= c.-553+4980A= (n.-553+4980A=) c.2159T= (p.Leu720=) c.2063T= (p.Leu688=) c.-276T= (n.-276T=) c.2186T= (p.Leu729=) c.2090T= (p.Leu697=) c.2030T= (p.Leu677=) c.1934T= (p.Leu645=)
6	g.43048488A>C	CA364220748	CUL7,KLC4	c.1907T>G (p.Leu636Arg) n.2190T>G c.2003T>G (p.Leu668Arg) n.2206T>G n.2241T>G c.399T>G c.-553+4980A>C (n.-553+4980A>C) c.2159T>G (p.Leu720Arg) c.2063T>G (p.Leu688Arg) c.-276T>G (n.-276T>G) c.2186T>G (p.Leu729Arg) c.2090T>G (p.Leu697Arg) c.2030T>G (p.Leu677Arg) c.1934T>G (p.Leu645Arg)
6	g.43048488A>G	CA138249290	CUL7,KLC4	c.1907T>C (p.Leu636Pro) n.2190T>C c.2003T>C (p.Leu668Pro) n.2206T>C n.2241T>C c.399T>C c.-553+4980A>G (n.-553+4980A>G) c.2159T>C (p.Leu720Pro) c.2063T>C (p.Leu688Pro) c.-276T>C (n.-276T>C) c.2186T>C (p.Leu729Pro) c.2090T>C (p.Leu697Pro) c.2030T>C (p.Leu677Pro) c.1934T>C (p.Leu645Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.43048488A>T	CA364220749	CUL7,KLC4	c.1907T>A (p.Leu636Gln) n.2190T>A c.2003T>A (p.Leu668Gln) n.2206T>A n.2241T>A c.399T>A c.-553+4980A>T (n.-553+4980A>T) c.2159T>A (p.Leu720Gln) c.2063T>A (p.Leu688Gln) c.-276T>A (n.-276T>A) c.2186T>A (p.Leu729Gln) c.2090T>A (p.Leu697Gln) c.2030T>A (p.Leu677Gln) c.1934T>A (p.Leu645Gln)
6	g.43048492_43048494del	CA567150904	CUL7,KLC4	c.1905_1907del (p.Leu636del) n.2188_2190del c.2001_2003del (p.Leu668del) n.2204_2206del n.2239_2241del c.397_399del c.-553+4984_-553+4986del (n.-553+4984_-553+4986del) c.2157_2159del (p.Leu720del) c.2061_2063del (p.Leu688del) c.-278_-276del (n.-278_-276del) c.2184_2186del (p.Leu729del) c.2088_2090del (p.Leu697del) c.2028_2030del (p.Leu677del) c.1932_1934del (p.Leu645del)	dbSNP gnomAD v2 gnomAD v4
6	g.43048489G>A	CA450262032	CUL7,KLC4	c.1906C>T (p.Leu636=) n.2189C>T c.2002C>T (p.Leu668=) n.2205C>T n.2240C>T c.398C>T c.-553+4981G>A (n.-553+4981G>A) c.2158C>T (p.Leu720=) c.2062C>T (p.Leu688=) c.-277C>T (n.-277C>T) c.2185C>T (p.Leu729=) c.2089C>T (p.Leu697=) c.2029C>T (p.Leu677=) c.1933C>T (p.Leu645=)	dbSNP gnomAD v2 gnomAD v4
6	g.43048489G>C	CA364220750	CUL7,KLC4	c.1906C>G (p.Leu636Val) n.2189C>G c.2002C>G (p.Leu668Val) n.2205C>G n.2240C>G c.398C>G c.-553+4981G>C (n.-553+4981G>C) c.2158C>G (p.Leu720Val) c.2062C>G (p.Leu688Val) c.-277C>G (n.-277C>G) c.2185C>G (p.Leu729Val) c.2089C>G (p.Leu697Val) c.2029C>G (p.Leu677Val) c.1933C>G (p.Leu645Val)	dbSNP
6	g.43048489G=	CA1624357396	CUL7,KLC4	c.1906C= (p.Leu636=) n.2189C= c.2002C= (p.Leu668=) n.2205C= n.2240C= c.398C= c.-553+4981G= (n.-553+4981G=) c.2158C= (p.Leu720=) c.2062C= (p.Leu688=) c.-277C= (n.-277C=) c.2185C= (p.Leu729=) c.2089C= (p.Leu697=) c.2029C= (p.Leu677=) c.1933C= (p.Leu645=)
6	g.43048489G>T	CA364220752	CUL7,KLC4	c.1906C>A (p.Leu636Met) n.2189C>A c.2002C>A (p.Leu668Met) n.2205C>A n.2240C>A c.398C>A c.-553+4981G>T (n.-553+4981G>T) c.2158C>A (p.Leu720Met) c.2062C>A (p.Leu688Met) c.-277C>A (n.-277C>A) c.2185C>A (p.Leu729Met) c.2089C>A (p.Leu697Met) c.2029C>A (p.Leu677Met) c.1933C>A (p.Leu645Met)
6	g.43048490G>A	CA450262035	CUL7,KLC4	c.1905C>T (p.Leu635=) n.2188C>T c.2001C>T (p.Leu667=) n.2204C>T n.2239C>T c.397C>T c.-553+4982G>A (n.-553+4982G>A) c.2157C>T (p.Leu719=) c.2061C>T (p.Leu687=) c.-278C>T (n.-278C>T) c.2184C>T (p.Leu728=) c.2088C>T (p.Leu696=) c.2028C>T (p.Leu676=) c.1932C>T (p.Leu644=)	dbSNP gnomAD v3 gnomAD v4
6	g.43048490G>C	CA450262036	CUL7,KLC4	c.1905C>G (p.Leu635=) n.2188C>G c.2001C>G (p.Leu667=) n.2204C>G n.2239C>G c.397C>G c.-553+4982G>C (n.-553+4982G>C) c.2157C>G (p.Leu719=) c.2061C>G (p.Leu687=) c.-278C>G (n.-278C>G) c.2184C>G (p.Leu728=) c.2088C>G (p.Leu696=) c.2028C>G (p.Leu676=) c.1932C>G (p.Leu644=)	dbSNP
6	g.43048490G=	CA1624357397	CUL7,KLC4	c.1905C= (p.Leu635=) n.2188C= c.2001C= (p.Leu667=) n.2204C= n.2239C= c.397C= c.-553+4982G= (n.-553+4982G=) c.2157C= (p.Leu719=) c.2061C= (p.Leu687=) c.-278C= (n.-278C=) c.2184C= (p.Leu728=) c.2088C= (p.Leu696=) c.2028C= (p.Leu676=) c.1932C= (p.Leu644=)
6	g.43048490G>T	CA450262038	CUL7,KLC4	c.1905C>A (p.Leu635=) n.2188C>A c.2001C>A (p.Leu667=) n.2204C>A n.2239C>A c.397C>A c.-553+4982G>T (n.-553+4982G>T) c.2157C>A (p.Leu719=) c.2061C>A (p.Leu687=) c.-278C>A (n.-278C>A) c.2184C>A (p.Leu728=) c.2088C>A (p.Leu696=) c.2028C>A (p.Leu676=) c.1932C>A (p.Leu644=)
6	g.43048491A>C	CA364220753	CUL7,KLC4	c.1904T>G (p.Leu635Arg) n.2187T>G c.2000T>G (p.Leu667Arg) n.2203T>G n.2238T>G c.396T>G c.-553+4983A>C (n.-553+4983A>C) c.2156T>G (p.Leu719Arg) c.2060T>G (p.Leu687Arg) c.-279T>G (n.-279T>G) c.2183T>G (p.Leu728Arg) c.2087T>G (p.Leu696Arg) c.2027T>G (p.Leu676Arg) c.1931T>G (p.Leu644Arg)
6	g.43048491A>G	CA364220755	CUL7,KLC4	c.1904T>C (p.Leu635Pro) n.2187T>C c.2000T>C (p.Leu667Pro) n.2203T>C n.2238T>C c.396T>C c.-553+4983A>G (n.-553+4983A>G) c.2156T>C (p.Leu719Pro) c.2060T>C (p.Leu687Pro) c.-279T>C (n.-279T>C) c.2183T>C (p.Leu728Pro) c.2087T>C (p.Leu696Pro) c.2027T>C (p.Leu676Pro) c.1931T>C (p.Leu644Pro)
6	g.43048491A>T	CA364220760	CUL7,KLC4	c.1904T>A (p.Leu635His) n.2187T>A c.2000T>A (p.Leu667His) n.2203T>A n.2238T>A c.396T>A c.-553+4983A>T (n.-553+4983A>T) c.2156T>A (p.Leu719His) c.2060T>A (p.Leu687His) c.-279T>A (n.-279T>A) c.2183T>A (p.Leu728His) c.2087T>A (p.Leu696His) c.2027T>A (p.Leu676His) c.1931T>A (p.Leu644His)
6	g.43048492G>A	CA364220770	CUL7,KLC4	c.1903C>T (p.Leu635Phe) n.2186C>T c.1999C>T (p.Leu667Phe) n.2202C>T n.2237C>T c.395C>T c.-553+4984G>A (n.-553+4984G>A) c.2155C>T (p.Leu719Phe) c.2059C>T (p.Leu687Phe) c.-280C>T (n.-280C>T) c.2182C>T (p.Leu728Phe) c.2086C>T (p.Leu696Phe) c.2026C>T (p.Leu676Phe) c.1930C>T (p.Leu644Phe)	dbSNP gnomAD v4
6	g.43048492G>C	CA364220771	CUL7,KLC4	c.1903C>G (p.Leu635Val) n.2186C>G c.1999C>G (p.Leu667Val) n.2202C>G n.2237C>G c.395C>G c.-553+4984G>C (n.-553+4984G>C) c.2155C>G (p.Leu719Val) c.2059C>G (p.Leu687Val) c.-280C>G (n.-280C>G) c.2182C>G (p.Leu728Val) c.2086C>G (p.Leu696Val) c.2026C>G (p.Leu676Val) c.1930C>G (p.Leu644Val)
6	g.43048492G=	CA1624357398	CUL7,KLC4	c.1903C= (p.Leu635=) n.2186C= c.1999C= (p.Leu667=) n.2202C= n.2237C= c.395C= c.-553+4984G= (n.-553+4984G=) c.2155C= (p.Leu719=) c.2059C= (p.Leu687=) c.-280C= (n.-280C=) c.2182C= (p.Leu728=) c.2086C= (p.Leu696=) c.2026C= (p.Leu676=) c.1930C= (p.Leu644=)
6	g.43048492G>T	CA364220773	CUL7,KLC4	c.1903C>A (p.Leu635Ile) n.2186C>A c.1999C>A (p.Leu667Ile) n.2202C>A n.2237C>A c.395C>A c.-553+4984G>T (n.-553+4984G>T) c.2155C>A (p.Leu719Ile) c.2059C>A (p.Leu687Ile) c.-280C>A (n.-280C>A) c.2182C>A (p.Leu728Ile) c.2086C>A (p.Leu696Ile) c.2026C>A (p.Leu676Ile) c.1930C>A (p.Leu644Ile)	COSMIC COSMIC
6	g.43048493G>A	CA450262047	CUL7,KLC4	c.1902C>T (p.Ile634=) n.2185C>T c.1998C>T (p.Ile666=) n.2201C>T n.2236C>T c.394C>T c.-553+4985G>A (n.-553+4985G>A) c.2154C>T (p.Ile718=) c.2058C>T (p.Ile686=) c.-281C>T (n.-281C>T) c.2181C>T (p.Ile727=) c.2085C>T (p.Ile695=) c.2025C>T (p.Ile675=) c.1929C>T (p.Ile643=)
6	g.43048493G>C	CA364220774	CUL7,KLC4	c.1902C>G (p.Ile634Met) n.2185C>G c.1998C>G (p.Ile666Met) n.2201C>G n.2236C>G c.394C>G c.-553+4985G>C (n.-553+4985G>C) c.2154C>G (p.Ile718Met) c.2058C>G (p.Ile686Met) c.-281C>G (n.-281C>G) c.2181C>G (p.Ile727Met) c.2085C>G (p.Ile695Met) c.2025C>G (p.Ile675Met) c.1929C>G (p.Ile643Met)
6	g.43048493G>T	CA450262044	CUL7,KLC4	c.1902C>A (p.Ile634=) n.2185C>A c.1998C>A (p.Ile666=) n.2201C>A n.2236C>A c.394C>A c.-553+4985G>T (n.-553+4985G>T) c.2154C>A (p.Ile718=) c.2058C>A (p.Ile686=) c.-281C>A (n.-281C>A) c.2181C>A (p.Ile727=) c.2085C>A (p.Ile695=) c.2025C>A (p.Ile675=) c.1929C>A (p.Ile643=)
6	g.43048494A>C	CA364220779	CUL7,KLC4	c.1901T>G (p.Ile634Ser) n.2184T>G c.1997T>G (p.Ile666Ser) n.2200T>G n.2235T>G c.393T>G c.-553+4986A>C (n.-553+4986A>C) c.2153T>G (p.Ile718Ser) c.2057T>G (p.Ile686Ser) c.-282T>G (n.-282T>G) c.2180T>G (p.Ile727Ser) c.2084T>G (p.Ile695Ser) c.2024T>G (p.Ile675Ser) c.1928T>G (p.Ile643Ser)
6	g.43048494A>G	CA364220778	CUL7,KLC4	c.1901T>C (p.Ile634Thr) n.2184T>C c.1997T>C (p.Ile666Thr) n.2200T>C n.2235T>C c.393T>C c.-553+4986A>G (n.-553+4986A>G) c.2153T>C (p.Ile718Thr) c.2057T>C (p.Ile686Thr) c.-282T>C (n.-282T>C) c.2180T>C (p.Ile727Thr) c.2084T>C (p.Ile695Thr) c.2024T>C (p.Ile675Thr) c.1928T>C (p.Ile643Thr)
6	g.43048494A>T	CA364220777	CUL7,KLC4	c.1901T>A (p.Ile634Asn) n.2184T>A c.1997T>A (p.Ile666Asn) n.2200T>A n.2235T>A c.393T>A c.-553+4986A>T (n.-553+4986A>T) c.2153T>A (p.Ile718Asn) c.2057T>A (p.Ile686Asn) c.-282T>A (n.-282T>A) c.2180T>A (p.Ile727Asn) c.2084T>A (p.Ile695Asn) c.2024T>A (p.Ile675Asn) c.1928T>A (p.Ile643Asn)
6	g.43048495T>A	CA364220780	CUL7,KLC4	c.1900A>T (p.Ile634Phe) n.2183A>T c.1996A>T (p.Ile666Phe) n.2199A>T n.2234A>T c.392A>T c.-553+4987T>A (n.-553+4987T>A) c.2152A>T (p.Ile718Phe) c.2056A>T (p.Ile686Phe) c.-283A>T (n.-283A>T) c.2179A>T (p.Ile727Phe) c.2083A>T (p.Ile695Phe) c.2023A>T (p.Ile675Phe) c.1927A>T (p.Ile643Phe)	gnomAD v4
6	g.43048495T>C	CA364220781	CUL7,KLC4	c.1900A>G (p.Ile634Val) n.2183A>G c.1996A>G (p.Ile666Val) n.2199A>G n.2234A>G c.392A>G c.-553+4987T>C (n.-553+4987T>C) c.2152A>G (p.Ile718Val) c.2056A>G (p.Ile686Val) c.-283A>G (n.-283A>G) c.2179A>G (p.Ile727Val) c.2083A>G (p.Ile695Val) c.2023A>G (p.Ile675Val) c.1927A>G (p.Ile643Val)
6	g.43048495T>G	CA364220784	CUL7,KLC4	c.1900A>C (p.Ile634Leu) n.2183A>C c.1996A>C (p.Ile666Leu) n.2199A>C n.2234A>C c.392A>C c.-553+4987T>G (n.-553+4987T>G) c.2152A>C (p.Ile718Leu) c.2056A>C (p.Ile686Leu) c.-283A>C (n.-283A>C) c.2179A>C (p.Ile727Leu) c.2083A>C (p.Ile695Leu) c.2023A>C (p.Ile675Leu) c.1927A>C (p.Ile643Leu)
6	g.43048496T>A	CA364220798	CUL7,KLC4	c.1899A>T (p.Lys633Asn) n.2182A>T c.1995A>T (p.Lys665Asn) n.2198A>T n.2233A>T c.391A>T c.-553+4988T>A (n.-553+4988T>A) c.2151A>T (p.Lys717Asn) c.2055A>T (p.Lys685Asn) c.-284A>T (n.-284A>T) c.2178A>T (p.Lys726Asn) c.2082A>T (p.Lys694Asn) c.2022A>T (p.Lys674Asn) c.1926A>T (p.Lys642Asn)
6	g.43048496T>C	CA450262050	CUL7,KLC4	c.1899A>G (p.Lys633=) n.2182A>G c.1995A>G (p.Lys665=) n.2198A>G n.2233A>G c.391A>G c.-553+4988T>C (n.-553+4988T>C) c.2151A>G (p.Lys717=) c.2055A>G (p.Lys685=) c.-284A>G (n.-284A>G) c.2178A>G (p.Lys726=) c.2082A>G (p.Lys694=) c.2022A>G (p.Lys674=) c.1926A>G (p.Lys642=)
6	g.43048496T>G	CA364220800	CUL7,KLC4	c.1899A>C (p.Lys633Asn) n.2182A>C c.1995A>C (p.Lys665Asn) n.2198A>C n.2233A>C c.391A>C c.-553+4988T>G (n.-553+4988T>G) c.2151A>C (p.Lys717Asn) c.2055A>C (p.Lys685Asn) c.-284A>C (n.-284A>C) c.2178A>C (p.Lys726Asn) c.2082A>C (p.Lys694Asn) c.2022A>C (p.Lys674Asn) c.1926A>C (p.Lys642Asn)
6	g.43048497T>A	CA364220807	CUL7,KLC4	c.1898A>T (p.Lys633Ile) n.2181A>T c.1994A>T (p.Lys665Ile) n.2197A>T n.2232A>T c.390A>T c.-553+4989T>A (n.-553+4989T>A) c.2150A>T (p.Lys717Ile) c.2054A>T (p.Lys685Ile) c.-285A>T (n.-285A>T) c.2177A>T (p.Lys726Ile) c.2081A>T (p.Lys694Ile) c.2021A>T (p.Lys674Ile) c.1925A>T (p.Lys642Ile)
6	g.43048497T>C	CA3814042	CUL7,KLC4	c.1898A>G (p.Lys633Arg) n.2181A>G c.1994A>G (p.Lys665Arg) n.2197A>G n.2232A>G c.390A>G c.-553+4989T>C (n.-553+4989T>C) c.2150A>G (p.Lys717Arg) c.2054A>G (p.Lys685Arg) c.-285A>G (n.-285A>G) c.2177A>G (p.Lys726Arg) c.2081A>G (p.Lys694Arg) c.2021A>G (p.Lys674Arg) c.1925A>G (p.Lys642Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048497T>G	CA364220805	CUL7,KLC4	c.1898A>C (p.Lys633Thr) n.2181A>C c.1994A>C (p.Lys665Thr) n.2197A>C n.2232A>C c.390A>C c.-553+4989T>G (n.-553+4989T>G) c.2150A>C (p.Lys717Thr) c.2054A>C (p.Lys685Thr) c.-285A>C (n.-285A>C) c.2177A>C (p.Lys726Thr) c.2081A>C (p.Lys694Thr) c.2021A>C (p.Lys674Thr) c.1925A>C (p.Lys642Thr)
6	g.43048497T=	CA1624357399	CUL7,KLC4	c.1898A= (p.Lys633=) n.2181A= c.1994A= (p.Lys665=) n.2197A= n.2232A= c.390A= c.-553+4989T= (n.-553+4989T=) c.2150A= (p.Lys717=) c.2054A= (p.Lys685=) c.-285A= (n.-285A=) c.2177A= (p.Lys726=) c.2081A= (p.Lys694=) c.2021A= (p.Lys674=) c.1925A= (p.Lys642=)
6	g.43048498T>A	CA364220810	CUL7,KLC4	c.1897A>T (p.Lys633Ter) n.2180A>T c.1993A>T (p.Lys665Ter) n.2196A>T n.2231A>T c.389A>T c.-553+4990T>A (n.-553+4990T>A) c.2149A>T (p.Lys717Ter) c.2053A>T (p.Lys685Ter) c.-286A>T (n.-286A>T) c.2176A>T (p.Lys726Ter) c.2080A>T (p.Lys694Ter) c.2020A>T (p.Lys674Ter) c.1924A>T (p.Lys642Ter)
6	g.43048498T>C	CA364220812	CUL7,KLC4	c.1897A>G (p.Lys633Glu) n.2180A>G c.1993A>G (p.Lys665Glu) n.2196A>G n.2231A>G c.389A>G c.-553+4990T>C (n.-553+4990T>C) c.2149A>G (p.Lys717Glu) c.2053A>G (p.Lys685Glu) c.-286A>G (n.-286A>G) c.2176A>G (p.Lys726Glu) c.2080A>G (p.Lys694Glu) c.2020A>G (p.Lys674Glu) c.1924A>G (p.Lys642Glu)
6	g.43048498T>G	CA364220814	CUL7,KLC4	c.1897A>C (p.Lys633Gln) n.2180A>C c.1993A>C (p.Lys665Gln) n.2196A>C n.2231A>C c.389A>C c.-553+4990T>G (n.-553+4990T>G) c.2149A>C (p.Lys717Gln) c.2053A>C (p.Lys685Gln) c.-286A>C (n.-286A>C) c.2176A>C (p.Lys726Gln) c.2080A>C (p.Lys694Gln) c.2020A>C (p.Lys674Gln) c.1924A>C (p.Lys642Gln)
6	g.43048499C>A	CA450262057	CUL7,KLC4	c.1896G>T (p.Gly632=) n.2179G>T c.1992G>T (p.Gly664=) n.2195G>T n.2230G>T c.388G>T c.-553+4991C>A (n.-553+4991C>A) c.2148G>T (p.Gly716=) c.2052G>T (p.Gly684=) c.-287G>T (n.-287G>T) c.2175G>T (p.Gly725=) c.2079G>T (p.Gly693=) c.2019G>T (p.Gly673=) c.1923G>T (p.Gly641=)
6	g.43048499C>G	CA450262062	CUL7,KLC4	c.1896G>C (p.Gly632=) n.2179G>C c.1992G>C (p.Gly664=) n.2195G>C n.2230G>C c.388G>C c.-553+4991C>G (n.-553+4991C>G) c.2148G>C (p.Gly716=) c.2052G>C (p.Gly684=) c.-287G>C (n.-287G>C) c.2175G>C (p.Gly725=) c.2079G>C (p.Gly693=) c.2019G>C (p.Gly673=) c.1923G>C (p.Gly641=)
6	g.43048499C>T	CA450262059	CUL7,KLC4	c.1896G>A (p.Gly632=) n.2179G>A c.1992G>A (p.Gly664=) n.2195G>A n.2230G>A c.388G>A c.-553+4991C>T (n.-553+4991C>T) c.2148G>A (p.Gly716=) c.2052G>A (p.Gly684=) c.-287G>A (n.-287G>A) c.2175G>A (p.Gly725=) c.2079G>A (p.Gly693=) c.2019G>A (p.Gly673=) c.1923G>A (p.Gly641=)
6	g.43048500C>A	CA364220818	CUL7,KLC4	c.1895G>T (p.Gly632Val) n.2178G>T c.1991G>T (p.Gly664Val) n.2194G>T n.2229G>T c.387G>T c.-553+4992C>A (n.-553+4992C>A) c.2147G>T (p.Gly716Val) c.2051G>T (p.Gly684Val) c.-288G>T (n.-288G>T) c.2174G>T (p.Gly725Val) c.2078G>T (p.Gly693Val) c.2018G>T (p.Gly673Val) c.1922G>T (p.Gly641Val)
6	g.43048500C>G	CA364220820	CUL7,KLC4	c.1895G>C (p.Gly632Ala) n.2178G>C c.1991G>C (p.Gly664Ala) n.2194G>C n.2229G>C c.387G>C c.-553+4992C>G (n.-553+4992C>G) c.2147G>C (p.Gly716Ala) c.2051G>C (p.Gly684Ala) c.-288G>C (n.-288G>C) c.2174G>C (p.Gly725Ala) c.2078G>C (p.Gly693Ala) c.2018G>C (p.Gly673Ala) c.1922G>C (p.Gly641Ala)
6	g.43048500C>T	CA364220822	CUL7,KLC4	c.1895G>A (p.Gly632Glu) n.2178G>A c.1991G>A (p.Gly664Glu) n.2194G>A n.2229G>A c.387G>A c.-553+4992C>T (n.-553+4992C>T) c.2147G>A (p.Gly716Glu) c.2051G>A (p.Gly684Glu) c.-288G>A (n.-288G>A) c.2174G>A (p.Gly725Glu) c.2078G>A (p.Gly693Glu) c.2018G>A (p.Gly673Glu) c.1922G>A (p.Gly641Glu)
6	g.43048501C>A	CA364220824	CUL7,KLC4	c.1894G>T (p.Gly632Trp) n.2177G>T c.1990G>T (p.Gly664Trp) n.2193G>T n.2228G>T c.386G>T c.-553+4993C>A (n.-553+4993C>A) c.2146G>T (p.Gly716Trp) c.2050G>T (p.Gly684Trp) c.-289G>T (n.-289G>T) c.2173G>T (p.Gly725Trp) c.2077G>T (p.Gly693Trp) c.2017G>T (p.Gly673Trp) c.1921G>T (p.Gly641Trp)
6	g.43048501C=	CA1624357400	CUL7,KLC4	c.1894G= (p.Gly632=) n.2177G= c.1990G= (p.Gly664=) n.2193G= n.2228G= c.386G= c.-553+4993C= (n.-553+4993C=) c.2146G= (p.Gly716=) c.2050G= (p.Gly684=) c.-289G= (n.-289G=) c.2173G= (p.Gly725=) c.2077G= (p.Gly693=) c.2017G= (p.Gly673=) c.1921G= (p.Gly641=)
6	g.43048501C>G	CA364220829	CUL7,KLC4	c.1894G>C (p.Gly632Arg) n.2177G>C c.1990G>C (p.Gly664Arg) n.2193G>C n.2228G>C c.386G>C c.-553+4993C>G (n.-553+4993C>G) c.2146G>C (p.Gly716Arg) c.2050G>C (p.Gly684Arg) c.-289G>C (n.-289G>C) c.2173G>C (p.Gly725Arg) c.2077G>C (p.Gly693Arg) c.2017G>C (p.Gly673Arg) c.1921G>C (p.Gly641Arg)
6	g.43048501C>T	CA364220828	CUL7,KLC4	c.1894G>A (p.Gly632Arg) n.2177G>A c.1990G>A (p.Gly664Arg) n.2193G>A n.2228G>A c.386G>A c.-553+4993C>T (n.-553+4993C>T) c.2146G>A (p.Gly716Arg) c.2050G>A (p.Gly684Arg) c.-289G>A (n.-289G>A) c.2173G>A (p.Gly725Arg) c.2077G>A (p.Gly693Arg) c.2017G>A (p.Gly673Arg) c.1921G>A (p.Gly641Arg)	dbSNP
6	g.43048502A>C	CA450262067	CUL7,KLC4	c.1893T>G (p.Ala631=) n.2176T>G c.1989T>G (p.Ala663=) n.2192T>G n.2227T>G c.385T>G c.-553+4994A>C (n.-553+4994A>C) c.2145T>G (p.Ala715=) c.2049T>G (p.Ala683=) c.-290T>G (n.-290T>G) c.2172T>G (p.Ala724=) c.2076T>G (p.Ala692=) c.2016T>G (p.Ala672=) c.1920T>G (p.Ala640=)
6	g.43048502A>G	CA450262068	CUL7,KLC4	c.1893T>C (p.Ala631=) n.2176T>C c.1989T>C (p.Ala663=) n.2192T>C n.2227T>C c.385T>C c.-553+4994A>G (n.-553+4994A>G) c.2145T>C (p.Ala715=) c.2049T>C (p.Ala683=) c.-290T>C (n.-290T>C) c.2172T>C (p.Ala724=) c.2076T>C (p.Ala692=) c.2016T>C (p.Ala672=) c.1920T>C (p.Ala640=)
6	g.43048502A>T	CA450262070	CUL7,KLC4	c.1893T>A (p.Ala631=) n.2176T>A c.1989T>A (p.Ala663=) n.2192T>A n.2227T>A c.385T>A c.-553+4994A>T (n.-553+4994A>T) c.2145T>A (p.Ala715=) c.2049T>A (p.Ala683=) c.-290T>A (n.-290T>A) c.2172T>A (p.Ala724=) c.2076T>A (p.Ala692=) c.2016T>A (p.Ala672=) c.1920T>A (p.Ala640=)
6	g.43048503G>A	CA364220830	CUL7,KLC4	c.1892C>T (p.Ala631Val) n.2175C>T c.1988C>T (p.Ala663Val) n.2191C>T n.2226C>T c.384C>T c.-553+4995G>A (n.-553+4995G>A) c.2144C>T (p.Ala715Val) c.2048C>T (p.Ala683Val) c.-291C>T (n.-291C>T) c.2171C>T (p.Ala724Val) c.2075C>T (p.Ala692Val) c.2015C>T (p.Ala672Val) c.1919C>T (p.Ala640Val)
6	g.43048503G>C	CA364220831	CUL7,KLC4	c.1892C>G (p.Ala631Gly) n.2175C>G c.1988C>G (p.Ala663Gly) n.2191C>G n.2226C>G c.384C>G c.-553+4995G>C (n.-553+4995G>C) c.2144C>G (p.Ala715Gly) c.2048C>G (p.Ala683Gly) c.-291C>G (n.-291C>G) c.2171C>G (p.Ala724Gly) c.2075C>G (p.Ala692Gly) c.2015C>G (p.Ala672Gly) c.1919C>G (p.Ala640Gly)
6	g.43048503G>T	CA364220832	CUL7,KLC4	c.1892C>A (p.Ala631Asp) n.2175C>A c.1988C>A (p.Ala663Asp) n.2191C>A n.2226C>A c.384C>A c.-553+4995G>T (n.-553+4995G>T) c.2144C>A (p.Ala715Asp) c.2048C>A (p.Ala683Asp) c.-291C>A (n.-291C>A) c.2171C>A (p.Ala724Asp) c.2075C>A (p.Ala692Asp) c.2015C>A (p.Ala672Asp) c.1919C>A (p.Ala640Asp)

Number of alleles fetched