Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.43048159_43048178del	CA2739273060	CUL7,KLC4	c.2142_2161del (p.Cys714Ter) n.2425_2444del c.2238_2257del (p.Cys746Ter) n.2441_2460del c.91_110del n.2476_2495del c.634_653del c.-553+4651_-553+4670del (n.-553+4651_-553+4670del) c.2394_2413del (p.Cys798Ter) c.2298_2317del (p.Cys766Ter) c.-41_-22del (n.-41_-22del) c.2421_2440del (p.Cys807Ter) c.2325_2344del (p.Cys775Ter) c.2265_2284del (p.Cys755Ter) c.2169_2188del (p.Cys723Ter)	ClinVar
6	g.43048167G>A	CA364218202	CUL7,KLC4	c.2150C>T (p.Ser717Phe) n.2433C>T c.2246C>T (p.Ser749Phe) n.2449C>T c.99C>T n.2484C>T c.642C>T c.-553+4659G>A (n.-553+4659G>A) c.2402C>T (p.Ser801Phe) c.2306C>T (p.Ser769Phe) c.-33C>T (n.-33C>T) c.2429C>T (p.Ser810Phe) c.2333C>T (p.Ser778Phe) c.2273C>T (p.Ser758Phe) c.2177C>T (p.Ser726Phe)
6	g.43048167G>C	CA364218204	CUL7,KLC4	c.2150C>G (p.Ser717Cys) n.2433C>G c.2246C>G (p.Ser749Cys) n.2449C>G c.99C>G n.2484C>G c.642C>G c.-553+4659G>C (n.-553+4659G>C) c.2402C>G (p.Ser801Cys) c.2306C>G (p.Ser769Cys) c.-33C>G (n.-33C>G) c.2429C>G (p.Ser810Cys) c.2333C>G (p.Ser778Cys) c.2273C>G (p.Ser758Cys) c.2177C>G (p.Ser726Cys)
6	g.43048167G>T	CA364218206	CUL7,KLC4	c.2150C>A (p.Ser717Tyr) n.2433C>A c.2246C>A (p.Ser749Tyr) n.2449C>A c.99C>A n.2484C>A c.642C>A c.-553+4659G>T (n.-553+4659G>T) c.2402C>A (p.Ser801Tyr) c.2306C>A (p.Ser769Tyr) c.-33C>A (n.-33C>A) c.2429C>A (p.Ser810Tyr) c.2333C>A (p.Ser778Tyr) c.2273C>A (p.Ser758Tyr) c.2177C>A (p.Ser726Tyr)	gnomAD v4
6	g.43048168A>C	CA364218209	CUL7,KLC4	c.2149T>G (p.Ser717Ala) n.2432T>G c.2245T>G (p.Ser749Ala) n.2448T>G c.98T>G n.2483T>G c.641T>G c.-553+4660A>C (n.-553+4660A>C) c.2401T>G (p.Ser801Ala) c.2305T>G (p.Ser769Ala) c.-34T>G (n.-34T>G) c.2428T>G (p.Ser810Ala) c.2332T>G (p.Ser778Ala) c.2272T>G (p.Ser758Ala) c.2176T>G (p.Ser726Ala)
6	g.43048168A>G	CA364218214	CUL7,KLC4	c.2149T>C (p.Ser717Pro) n.2432T>C c.2245T>C (p.Ser749Pro) n.2448T>C c.98T>C n.2483T>C c.641T>C c.-553+4660A>G (n.-553+4660A>G) c.2401T>C (p.Ser801Pro) c.2305T>C (p.Ser769Pro) c.-34T>C (n.-34T>C) c.2428T>C (p.Ser810Pro) c.2332T>C (p.Ser778Pro) c.2272T>C (p.Ser758Pro) c.2176T>C (p.Ser726Pro)
6	g.43048168A>T	CA364218212	CUL7,KLC4	c.2149T>A (p.Ser717Thr) n.2432T>A c.2245T>A (p.Ser749Thr) n.2448T>A c.98T>A n.2483T>A c.641T>A c.-553+4660A>T (n.-553+4660A>T) c.2401T>A (p.Ser801Thr) c.2305T>A (p.Ser769Thr) c.-34T>A (n.-34T>A) c.2428T>A (p.Ser810Thr) c.2332T>A (p.Ser778Thr) c.2272T>A (p.Ser758Thr) c.2176T>A (p.Ser726Thr)
6	g.43048169C>A	CA450261520	CUL7,KLC4	c.2148G>T (p.Arg716=) n.2431G>T c.2244G>T (p.Arg748=) n.2447G>T c.97G>T n.2482G>T c.640G>T c.-553+4661C>A (n.-553+4661C>A) c.2400G>T (p.Arg800=) c.2304G>T (p.Arg768=) c.-35G>T (n.-35G>T) c.2427G>T (p.Arg809=) c.2331G>T (p.Arg777=) c.2271G>T (p.Arg757=) c.2175G>T (p.Arg725=)	gnomAD v4
6	g.43048169C>G	CA450261521	CUL7,KLC4	c.2148G>C (p.Arg716=) n.2431G>C c.2244G>C (p.Arg748=) n.2447G>C c.97G>C n.2482G>C c.640G>C c.-553+4661C>G (n.-553+4661C>G) c.2400G>C (p.Arg800=) c.2304G>C (p.Arg768=) c.-35G>C (n.-35G>C) c.2427G>C (p.Arg809=) c.2331G>C (p.Arg777=) c.2271G>C (p.Arg757=) c.2175G>C (p.Arg725=)	gnomAD v4
6	g.43048169C>T	CA450261522	CUL7,KLC4	c.2148G>A (p.Arg716=) n.2431G>A c.2244G>A (p.Arg748=) n.2447G>A c.97G>A n.2482G>A c.640G>A c.-553+4661C>T (n.-553+4661C>T) c.2400G>A (p.Arg800=) c.2304G>A (p.Arg768=) c.-35G>A (n.-35G>A) c.2427G>A (p.Arg809=) c.2331G>A (p.Arg777=) c.2271G>A (p.Arg757=) c.2175G>A (p.Arg725=)
6	g.43048170C>A	CA364218217	CUL7,KLC4	c.2147G>T (p.Arg716Leu) n.2430G>T c.2243G>T (p.Arg748Leu) n.2446G>T c.96G>T n.2481G>T c.639G>T c.-553+4662C>A (n.-553+4662C>A) c.2399G>T (p.Arg800Leu) c.2303G>T (p.Arg768Leu) c.-36G>T (n.-36G>T) c.2426G>T (p.Arg809Leu) c.2330G>T (p.Arg777Leu) c.2270G>T (p.Arg757Leu) c.2174G>T (p.Arg725Leu)
6	g.43048170C=	CA1624357231	CUL7,KLC4	c.2147G= (p.Arg716=) n.2430G= c.2243G= (p.Arg748=) n.2446G= c.96G= n.2481G= c.639G= c.-553+4662C= (n.-553+4662C=) c.2399G= (p.Arg800=) c.2303G= (p.Arg768=) c.-36G= (n.-36G=) c.2426G= (p.Arg809=) c.2330G= (p.Arg777=) c.2270G= (p.Arg757=) c.2174G= (p.Arg725=)
6	g.43048170C>G	CA364218221	CUL7,KLC4	c.2147G>C (p.Arg716Pro) n.2430G>C c.2243G>C (p.Arg748Pro) n.2446G>C c.96G>C n.2481G>C c.639G>C c.-553+4662C>G (n.-553+4662C>G) c.2399G>C (p.Arg800Pro) c.2303G>C (p.Arg768Pro) c.-36G>C (n.-36G>C) c.2426G>C (p.Arg809Pro) c.2330G>C (p.Arg777Pro) c.2270G>C (p.Arg757Pro) c.2174G>C (p.Arg725Pro)	dbSNP
6	g.43048170C>T	CA3813977	CUL7,KLC4	c.2147G>A (p.Arg716Gln) n.2430G>A c.2243G>A (p.Arg748Gln) n.2446G>A c.96G>A n.2481G>A c.639G>A c.-553+4662C>T (n.-553+4662C>T) c.2399G>A (p.Arg800Gln) c.2303G>A (p.Arg768Gln) c.-36G>A (n.-36G>A) c.2426G>A (p.Arg809Gln) c.2330G>A (p.Arg777Gln) c.2270G>A (p.Arg757Gln) c.2174G>A (p.Arg725Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048171G>A	CA3813978	CUL7,KLC4	c.2146C>T (p.Arg716Trp) n.2429C>T c.2242C>T (p.Arg748Trp) n.2445C>T c.95C>T n.2480C>T c.638C>T c.-553+4663G>A (n.-553+4663G>A) c.2398C>T (p.Arg800Trp) c.2302C>T (p.Arg768Trp) c.-37C>T (n.-37C>T) c.2425C>T (p.Arg809Trp) c.2329C>T (p.Arg777Trp) c.2269C>T (p.Arg757Trp) c.2173C>T (p.Arg725Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048171G>C	CA364218223	CUL7,KLC4	c.2146C>G (p.Arg716Gly) n.2429C>G c.2242C>G (p.Arg748Gly) n.2445C>G c.95C>G n.2480C>G c.638C>G c.-553+4663G>C (n.-553+4663G>C) c.2398C>G (p.Arg800Gly) c.2302C>G (p.Arg768Gly) c.-37C>G (n.-37C>G) c.2425C>G (p.Arg809Gly) c.2329C>G (p.Arg777Gly) c.2269C>G (p.Arg757Gly) c.2173C>G (p.Arg725Gly)
6	g.43048171G=	CA1624357232	CUL7,KLC4	c.2146C= (p.Arg716=) n.2429C= c.2242C= (p.Arg748=) n.2445C= c.95C= n.2480C= c.638C= c.-553+4663G= (n.-553+4663G=) c.2398C= (p.Arg800=) c.2302C= (p.Arg768=) c.-37C= (n.-37C=) c.2425C= (p.Arg809=) c.2329C= (p.Arg777=) c.2269C= (p.Arg757=) c.2173C= (p.Arg725=)
6	g.43048171G>T	CA450261523	CUL7,KLC4	c.2146C>A (p.Arg716=) n.2429C>A c.2242C>A (p.Arg748=) n.2445C>A c.95C>A n.2480C>A c.638C>A c.-553+4663G>T (n.-553+4663G>T) c.2398C>A (p.Arg800=) c.2302C>A (p.Arg768=) c.-37C>A (n.-37C>A) c.2425C>A (p.Arg809=) c.2329C>A (p.Arg777=) c.2269C>A (p.Arg757=) c.2173C>A (p.Arg725=)
6	g.43048172C>A	CA450261526	CUL7,KLC4	c.2145G>T (p.Leu715=) n.2428G>T c.2241G>T (p.Leu747=) n.2444G>T c.94G>T n.2479G>T c.637G>T c.-553+4664C>A (n.-553+4664C>A) c.2397G>T (p.Leu799=) c.2301G>T (p.Leu767=) c.-38G>T (n.-38G>T) c.2424G>T (p.Leu808=) c.2328G>T (p.Leu776=) c.2268G>T (p.Leu756=) c.2172G>T (p.Leu724=)
6	g.43048172C>G	CA450261524	CUL7,KLC4	c.2145G>C (p.Leu715=) n.2428G>C c.2241G>C (p.Leu747=) n.2444G>C c.94G>C n.2479G>C c.637G>C c.-553+4664C>G (n.-553+4664C>G) c.2397G>C (p.Leu799=) c.2301G>C (p.Leu767=) c.-38G>C (n.-38G>C) c.2424G>C (p.Leu808=) c.2328G>C (p.Leu776=) c.2268G>C (p.Leu756=) c.2172G>C (p.Leu724=)
6	g.43048172C>T	CA450261525	CUL7,KLC4	c.2145G>A (p.Leu715=) n.2428G>A c.2241G>A (p.Leu747=) n.2444G>A c.94G>A n.2479G>A c.637G>A c.-553+4664C>T (n.-553+4664C>T) c.2397G>A (p.Leu799=) c.2301G>A (p.Leu767=) c.-38G>A (n.-38G>A) c.2424G>A (p.Leu808=) c.2328G>A (p.Leu776=) c.2268G>A (p.Leu756=) c.2172G>A (p.Leu724=)
6	g.43048173A>C	CA364218227	CUL7,KLC4	c.2144T>G (p.Leu715Arg) n.2427T>G c.2240T>G (p.Leu747Arg) n.2443T>G c.93T>G n.2478T>G c.636T>G c.-553+4665A>C (n.-553+4665A>C) c.2396T>G (p.Leu799Arg) c.2300T>G (p.Leu767Arg) c.-39T>G (n.-39T>G) c.2423T>G (p.Leu808Arg) c.2327T>G (p.Leu776Arg) c.2267T>G (p.Leu756Arg) c.2171T>G (p.Leu724Arg)
6	g.43048173A>G	CA364218232	CUL7,KLC4	c.2144T>C (p.Leu715Pro) n.2427T>C c.2240T>C (p.Leu747Pro) n.2443T>C c.93T>C n.2478T>C c.636T>C c.-553+4665A>G (n.-553+4665A>G) c.2396T>C (p.Leu799Pro) c.2300T>C (p.Leu767Pro) c.-39T>C (n.-39T>C) c.2423T>C (p.Leu808Pro) c.2327T>C (p.Leu776Pro) c.2267T>C (p.Leu756Pro) c.2171T>C (p.Leu724Pro)
6	g.43048173A>T	CA364218229	CUL7,KLC4	c.2144T>A (p.Leu715Gln) n.2427T>A c.2240T>A (p.Leu747Gln) n.2443T>A c.93T>A n.2478T>A c.636T>A c.-553+4665A>T (n.-553+4665A>T) c.2396T>A (p.Leu799Gln) c.2300T>A (p.Leu767Gln) c.-39T>A (n.-39T>A) c.2423T>A (p.Leu808Gln) c.2327T>A (p.Leu776Gln) c.2267T>A (p.Leu756Gln) c.2171T>A (p.Leu724Gln)
6	g.43048174G>A	CA450261529	CUL7,KLC4	c.2143C>T (p.Leu715=) n.2426C>T c.2239C>T (p.Leu747=) n.2442C>T c.92C>T n.2477C>T c.635C>T c.-553+4666G>A (n.-553+4666G>A) c.2395C>T (p.Leu799=) c.2299C>T (p.Leu767=) c.-40C>T (n.-40C>T) c.2422C>T (p.Leu808=) c.2326C>T (p.Leu776=) c.2266C>T (p.Leu756=) c.2170C>T (p.Leu724=)	gnomAD v4
6	g.43048174G>C	CA364218234	CUL7,KLC4	c.2143C>G (p.Leu715Val) n.2426C>G c.2239C>G (p.Leu747Val) n.2442C>G c.92C>G n.2477C>G c.635C>G c.-553+4666G>C (n.-553+4666G>C) c.2395C>G (p.Leu799Val) c.2299C>G (p.Leu767Val) c.-40C>G (n.-40C>G) c.2422C>G (p.Leu808Val) c.2326C>G (p.Leu776Val) c.2266C>G (p.Leu756Val) c.2170C>G (p.Leu724Val)
6	g.43048174G>T	CA364218236	CUL7,KLC4	c.2143C>A (p.Leu715Met) n.2426C>A c.2239C>A (p.Leu747Met) n.2442C>A c.92C>A n.2477C>A c.635C>A c.-553+4666G>T (n.-553+4666G>T) c.2395C>A (p.Leu799Met) c.2299C>A (p.Leu767Met) c.-40C>A (n.-40C>A) c.2422C>A (p.Leu808Met) c.2326C>A (p.Leu776Met) c.2266C>A (p.Leu756Met) c.2170C>A (p.Leu724Met)
6	g.43048175G>A	CA450261531	CUL7,KLC4	c.2142C>T (p.Cys714=) n.2425C>T c.2238C>T (p.Cys746=) n.2441C>T c.91C>T n.2476C>T c.634C>T c.-553+4667G>A (n.-553+4667G>A) c.2394C>T (p.Cys798=) c.2298C>T (p.Cys766=) c.-41C>T (n.-41C>T) c.2421C>T (p.Cys807=) c.2325C>T (p.Cys775=) c.2265C>T (p.Cys755=) c.2169C>T (p.Cys723=)	gnomAD v4
6	g.43048175G>C	CA364218238	CUL7,KLC4	c.2142C>G (p.Cys714Trp) n.2425C>G c.2238C>G (p.Cys746Trp) n.2441C>G c.91C>G n.2476C>G c.634C>G c.-553+4667G>C (n.-553+4667G>C) c.2394C>G (p.Cys798Trp) c.2298C>G (p.Cys766Trp) c.-41C>G (n.-41C>G) c.2421C>G (p.Cys807Trp) c.2325C>G (p.Cys775Trp) c.2265C>G (p.Cys755Trp) c.2169C>G (p.Cys723Trp)
6	g.43048175G=	CA1624357233	CUL7,KLC4	c.2142C= (p.Cys714=) n.2425C= c.2238C= (p.Cys746=) n.2441C= c.91C= n.2476C= c.634C= c.-553+4667G= (n.-553+4667G=) c.2394C= (p.Cys798=) c.2298C= (p.Cys766=) c.-41C= (n.-41C=) c.2421C= (p.Cys807=) c.2325C= (p.Cys775=) c.2265C= (p.Cys755=) c.2169C= (p.Cys723=)
6	g.43048175G>T	CA364218240	CUL7,KLC4	c.2142C>A (p.Cys714Ter) n.2425C>A c.2238C>A (p.Cys746Ter) n.2441C>A c.91C>A n.2476C>A c.634C>A c.-553+4667G>T (n.-553+4667G>T) c.2394C>A (p.Cys798Ter) c.2298C>A (p.Cys766Ter) c.-41C>A (n.-41C>A) c.2421C>A (p.Cys807Ter) c.2325C>A (p.Cys775Ter) c.2265C>A (p.Cys755Ter) c.2169C>A (p.Cys723Ter)	dbSNP gnomAD v3 gnomAD v4
6	g.43048176C>A	CA364218244	CUL7,KLC4	c.2141G>T (p.Cys714Phe) n.2424G>T c.2237G>T (p.Cys746Phe) n.2440G>T c.90G>T n.2475G>T c.633G>T c.-553+4668C>A (n.-553+4668C>A) c.2393G>T (p.Cys798Phe) c.2297G>T (p.Cys766Phe) c.-42G>T (n.-42G>T) c.2420G>T (p.Cys807Phe) c.2324G>T (p.Cys775Phe) c.2264G>T (p.Cys755Phe) c.2168G>T (p.Cys723Phe)
6	g.43048176C=	CA1624357234	CUL7,KLC4	c.2141G= (p.Cys714=) n.2424G= c.2237G= (p.Cys746=) n.2440G= c.90G= n.2475G= c.633G= c.-553+4668C= (n.-553+4668C=) c.2393G= (p.Cys798=) c.2297G= (p.Cys766=) c.-42G= (n.-42G=) c.2420G= (p.Cys807=) c.2324G= (p.Cys775=) c.2264G= (p.Cys755=) c.2168G= (p.Cys723=)
6	g.43048176C>G	CA364218248	CUL7,KLC4	c.2141G>C (p.Cys714Ser) n.2424G>C c.2237G>C (p.Cys746Ser) n.2440G>C c.90G>C n.2475G>C c.633G>C c.-553+4668C>G (n.-553+4668C>G) c.2393G>C (p.Cys798Ser) c.2297G>C (p.Cys766Ser) c.-42G>C (n.-42G>C) c.2420G>C (p.Cys807Ser) c.2324G>C (p.Cys775Ser) c.2264G>C (p.Cys755Ser) c.2168G>C (p.Cys723Ser)
6	g.43048176C>T	CA364218249	CUL7,KLC4	c.2141G>A (p.Cys714Tyr) n.2424G>A c.2237G>A (p.Cys746Tyr) n.2440G>A c.90G>A n.2475G>A c.633G>A c.-553+4668C>T (n.-553+4668C>T) c.2393G>A (p.Cys798Tyr) c.2297G>A (p.Cys766Tyr) c.-42G>A (n.-42G>A) c.2420G>A (p.Cys807Tyr) c.2324G>A (p.Cys775Tyr) c.2264G>A (p.Cys755Tyr) c.2168G>A (p.Cys723Tyr)	dbSNP gnomAD v2 gnomAD v4
6	g.43048177A>C	CA364218252	CUL7,KLC4	c.2140T>G (p.Cys714Gly) n.2423T>G c.2236T>G (p.Cys746Gly) n.2439T>G c.89T>G n.2474T>G c.632T>G c.-553+4669A>C (n.-553+4669A>C) c.2392T>G (p.Cys798Gly) c.2296T>G (p.Cys766Gly) c.-43T>G (n.-43T>G) c.2419T>G (p.Cys807Gly) c.2323T>G (p.Cys775Gly) c.2263T>G (p.Cys755Gly) c.2167T>G (p.Cys723Gly)
6	g.43048177A>G	CA364218254	CUL7,KLC4	c.2140T>C (p.Cys714Arg) n.2423T>C c.2236T>C (p.Cys746Arg) n.2439T>C c.89T>C n.2474T>C c.632T>C c.-553+4669A>G (n.-553+4669A>G) c.2392T>C (p.Cys798Arg) c.2296T>C (p.Cys766Arg) c.-43T>C (n.-43T>C) c.2419T>C (p.Cys807Arg) c.2323T>C (p.Cys775Arg) c.2263T>C (p.Cys755Arg) c.2167T>C (p.Cys723Arg)
6	g.43048177A>T	CA364218256	CUL7,KLC4	c.2140T>A (p.Cys714Ser) n.2423T>A c.2236T>A (p.Cys746Ser) n.2439T>A c.89T>A n.2474T>A c.632T>A c.-553+4669A>T (n.-553+4669A>T) c.2392T>A (p.Cys798Ser) c.2296T>A (p.Cys766Ser) c.-43T>A (n.-43T>A) c.2419T>A (p.Cys807Ser) c.2323T>A (p.Cys775Ser) c.2263T>A (p.Cys755Ser) c.2167T>A (p.Cys723Ser)
6	g.43048178G>A	CA450261532	CUL7,KLC4	c.2139C>T (p.Ala713=) n.2422C>T c.2235C>T (p.Ala745=) n.2438C>T c.88C>T n.2473C>T c.631C>T c.-553+4670G>A (n.-553+4670G>A) c.2391C>T (p.Ala797=) c.2295C>T (p.Ala765=) c.-44C>T (n.-44C>T) c.2418C>T (p.Ala806=) c.2322C>T (p.Ala774=) c.2262C>T (p.Ala754=) c.2166C>T (p.Ala722=)
6	g.43048178G>C	CA450261534	CUL7,KLC4	c.2139C>G (p.Ala713=) n.2422C>G c.2235C>G (p.Ala745=) n.2438C>G c.88C>G n.2473C>G c.631C>G c.-553+4670G>C (n.-553+4670G>C) c.2391C>G (p.Ala797=) c.2295C>G (p.Ala765=) c.-44C>G (n.-44C>G) c.2418C>G (p.Ala806=) c.2322C>G (p.Ala774=) c.2262C>G (p.Ala754=) c.2166C>G (p.Ala722=)
6	g.43048178G>T	CA450261533	CUL7,KLC4	c.2139C>A (p.Ala713=) n.2422C>A c.2235C>A (p.Ala745=) n.2438C>A c.88C>A n.2473C>A c.631C>A c.-553+4670G>T (n.-553+4670G>T) c.2391C>A (p.Ala797=) c.2295C>A (p.Ala765=) c.-44C>A (n.-44C>A) c.2418C>A (p.Ala806=) c.2322C>A (p.Ala774=) c.2262C>A (p.Ala754=) c.2166C>A (p.Ala722=)
6	g.43048179G>A	CA364218260	CUL7,KLC4	c.2138C>T (p.Ala713Val) n.2421C>T c.2234C>T (p.Ala745Val) n.2437C>T c.87C>T n.2472C>T c.630C>T c.-553+4671G>A (n.-553+4671G>A) c.2390C>T (p.Ala797Val) c.2294C>T (p.Ala765Val) c.-45C>T (n.-45C>T) c.2417C>T (p.Ala806Val) c.2321C>T (p.Ala774Val) c.2261C>T (p.Ala754Val) c.2165C>T (p.Ala722Val)	gnomAD v4
6	g.43048179G>C	CA364218261	CUL7,KLC4	c.2138C>G (p.Ala713Gly) n.2421C>G c.2234C>G (p.Ala745Gly) n.2437C>G c.87C>G n.2472C>G c.630C>G c.-553+4671G>C (n.-553+4671G>C) c.2390C>G (p.Ala797Gly) c.2294C>G (p.Ala765Gly) c.-45C>G (n.-45C>G) c.2417C>G (p.Ala806Gly) c.2321C>G (p.Ala774Gly) c.2261C>G (p.Ala754Gly) c.2165C>G (p.Ala722Gly)
6	g.43048179G>T	CA364218263	CUL7,KLC4	c.2138C>A (p.Ala713Asp) n.2421C>A c.2234C>A (p.Ala745Asp) n.2437C>A c.87C>A n.2472C>A c.630C>A c.-553+4671G>T (n.-553+4671G>T) c.2390C>A (p.Ala797Asp) c.2294C>A (p.Ala765Asp) c.-45C>A (n.-45C>A) c.2417C>A (p.Ala806Asp) c.2321C>A (p.Ala774Asp) c.2261C>A (p.Ala754Asp) c.2165C>A (p.Ala722Asp)	dbSNP
6	g.43048180C>A	CA364218273	CUL7,KLC4	c.2137G>T (p.Ala713Ser) n.2420G>T c.2233G>T (p.Ala745Ser) n.2436G>T c.86G>T n.2471G>T c.629G>T c.-553+4672C>A (n.-553+4672C>A) c.2389G>T (p.Ala797Ser) c.2293G>T (p.Ala765Ser) c.-46G>T (n.-46G>T) c.2416G>T (p.Ala806Ser) c.2320G>T (p.Ala774Ser) c.2260G>T (p.Ala754Ser) c.2164G>T (p.Ala722Ser)
6	g.43048180C>G	CA364218271	CUL7,KLC4	c.2137G>C (p.Ala713Pro) n.2420G>C c.2233G>C (p.Ala745Pro) n.2436G>C c.86G>C n.2471G>C c.629G>C c.-553+4672C>G (n.-553+4672C>G) c.2389G>C (p.Ala797Pro) c.2293G>C (p.Ala765Pro) c.-46G>C (n.-46G>C) c.2416G>C (p.Ala806Pro) c.2320G>C (p.Ala774Pro) c.2260G>C (p.Ala754Pro) c.2164G>C (p.Ala722Pro)
6	g.43048180C>T	CA364218268	CUL7,KLC4	c.2137G>A (p.Ala713Thr) n.2420G>A c.2233G>A (p.Ala745Thr) n.2436G>A c.86G>A n.2471G>A c.629G>A c.-553+4672C>T (n.-553+4672C>T) c.2389G>A (p.Ala797Thr) c.2293G>A (p.Ala765Thr) c.-46G>A (n.-46G>A) c.2416G>A (p.Ala806Thr) c.2320G>A (p.Ala774Thr) c.2260G>A (p.Ala754Thr) c.2164G>A (p.Ala722Thr)
6	g.43048180_43048188delinsCCATGCAGG	CA1624357235	CUL7,KLC4	c.2129_2137delinsCCTGCATGG (p.Ala710=) n.2412_2420delinsCCTGCATGG c.2225_2233delinsCCTGCATGG (p.Ala742=) n.2428_2436delinsCCTGCATGG c.78_86delinsCCTGCATGG n.2463_2471delinsCCTGCATGG c.621_629delinsCCTGCATGG c.-553+4672_-553+4680delinsCCATGCAGG (n.-553+4672_-553+4680delinsCCATGCAGG) c.2381_2389delinsCCTGCATGG (p.Ala794=) c.2285_2293delinsCCTGCATGG (p.Ala762=) c.-54_-46delinsCCTGCATGG (n.-54_-46delinsCCTGCATGG) c.2408_2416delinsCCTGCATGG (p.Ala803=) c.2312_2320delinsCCTGCATGG (p.Ala771=) c.2252_2260delinsCCTGCATGG (p.Ala751=) c.2156_2164delinsCCTGCATGG (p.Ala719=)
6	g.43048181C>A	CA364218276	CUL7,KLC4	c.2136G>T (p.Met712Ile) n.2419G>T c.2232G>T (p.Met744Ile) n.2435G>T c.85G>T n.2470G>T c.628G>T c.-553+4673C>A (n.-553+4673C>A) c.2388G>T (p.Met796Ile) c.2292G>T (p.Met764Ile) c.-47G>T (n.-47G>T) c.2415G>T (p.Met805Ile) c.2319G>T (p.Met773Ile) c.2259G>T (p.Met753Ile) c.2163G>T (p.Met721Ile)
6	g.43048181C=	CA1624357237	CUL7,KLC4	c.2136G= (p.Met712=) n.2419G= c.2232G= (p.Met744=) n.2435G= c.85G= n.2470G= c.628G= c.-553+4673C= (n.-553+4673C=) c.2388G= (p.Met796=) c.2292G= (p.Met764=) c.-47G= (n.-47G=) c.2415G= (p.Met805=) c.2319G= (p.Met773=) c.2259G= (p.Met753=) c.2163G= (p.Met721=)
6	g.43048181C>G	CA364218279	CUL7,KLC4	c.2136G>C (p.Met712Ile) n.2419G>C c.2232G>C (p.Met744Ile) n.2435G>C c.85G>C n.2470G>C c.628G>C c.-553+4673C>G (n.-553+4673C>G) c.2388G>C (p.Met796Ile) c.2292G>C (p.Met764Ile) c.-47G>C (n.-47G>C) c.2415G>C (p.Met805Ile) c.2319G>C (p.Met773Ile) c.2259G>C (p.Met753Ile) c.2163G>C (p.Met721Ile)
6	g.43048181C>T	CA364218281	CUL7,KLC4	c.2136G>A (p.Met712Ile) n.2419G>A c.2232G>A (p.Met744Ile) n.2435G>A c.85G>A n.2470G>A c.628G>A c.-553+4673C>T (n.-553+4673C>T) c.2388G>A (p.Met796Ile) c.2292G>A (p.Met764Ile) c.-47G>A (n.-47G>A) c.2415G>A (p.Met805Ile) c.2319G>A (p.Met773Ile) c.2259G>A (p.Met753Ile) c.2163G>A (p.Met721Ile)	dbSNP
6	g.43048184_43048191del	CA1624357236	CUL7,KLC4	c.2129_2136del (p.Ala710GlyfsTer9) n.2412_2419del c.2225_2232del (p.Ala742GlyfsTer9) n.2428_2435del c.78_85del n.2463_2470del c.621_628del c.-553+4676_-553+4683del (n.-553+4676_-553+4683del) c.2381_2388del (p.Ala794GlyfsTer9) c.2285_2292del (p.Ala762GlyfsTer9) c.-54_-47del (n.-54_-47del) c.2408_2415del (p.Ala803GlyfsTer9) c.2312_2319del (p.Ala771GlyfsTer9) c.2252_2259del (p.Ala751GlyfsTer9) c.2156_2163del (p.Ala719GlyfsTer9)	dbSNP
6	g.43048182A>C	CA364218284	CUL7,KLC4	c.2135T>G (p.Met712Arg) n.2418T>G c.2231T>G (p.Met744Arg) n.2434T>G c.84T>G n.2469T>G c.627T>G c.-553+4674A>C (n.-553+4674A>C) c.2387T>G (p.Met796Arg) c.2291T>G (p.Met764Arg) c.-48T>G (n.-48T>G) c.2414T>G (p.Met805Arg) c.2318T>G (p.Met773Arg) c.2258T>G (p.Met753Arg) c.2162T>G (p.Met721Arg)
6	g.43048182A>G	CA364218285	CUL7,KLC4	c.2135T>C (p.Met712Thr) n.2418T>C c.2231T>C (p.Met744Thr) n.2434T>C c.84T>C n.2469T>C c.627T>C c.-553+4674A>G (n.-553+4674A>G) c.2387T>C (p.Met796Thr) c.2291T>C (p.Met764Thr) c.-48T>C (n.-48T>C) c.2414T>C (p.Met805Thr) c.2318T>C (p.Met773Thr) c.2258T>C (p.Met753Thr) c.2162T>C (p.Met721Thr)
6	g.43048182A>T	CA364218287	CUL7,KLC4	c.2135T>A (p.Met712Lys) n.2418T>A c.2231T>A (p.Met744Lys) n.2434T>A c.84T>A n.2469T>A c.627T>A c.-553+4674A>T (n.-553+4674A>T) c.2387T>A (p.Met796Lys) c.2291T>A (p.Met764Lys) c.-48T>A (n.-48T>A) c.2414T>A (p.Met805Lys) c.2318T>A (p.Met773Lys) c.2258T>A (p.Met753Lys) c.2162T>A (p.Met721Lys)
6	g.43048183T>A	CA364218288	CUL7,KLC4	c.2134A>T (p.Met712Leu) n.2417A>T c.2230A>T (p.Met744Leu) n.2433A>T c.83A>T n.2468A>T c.626A>T c.-553+4675T>A (n.-553+4675T>A) c.2386A>T (p.Met796Leu) c.2290A>T (p.Met764Leu) c.-49A>T (n.-49A>T) c.2413A>T (p.Met805Leu) c.2317A>T (p.Met773Leu) c.2257A>T (p.Met753Leu) c.2161A>T (p.Met721Leu)	gnomAD v4
6	g.43048183T>C	CA364218290	CUL7,KLC4	c.2134A>G (p.Met712Val) n.2417A>G c.2230A>G (p.Met744Val) n.2433A>G c.83A>G n.2468A>G c.626A>G c.-553+4675T>C (n.-553+4675T>C) c.2386A>G (p.Met796Val) c.2290A>G (p.Met764Val) c.-49A>G (n.-49A>G) c.2413A>G (p.Met805Val) c.2317A>G (p.Met773Val) c.2257A>G (p.Met753Val) c.2161A>G (p.Met721Val)
6	g.43048183T>G	CA138249111	CUL7,KLC4	c.2134A>C (p.Met712Leu) n.2417A>C c.2230A>C (p.Met744Leu) n.2433A>C c.83A>C n.2468A>C c.626A>C c.-553+4675T>G (n.-553+4675T>G) c.2386A>C (p.Met796Leu) c.2290A>C (p.Met764Leu) c.-49A>C (n.-49A>C) c.2413A>C (p.Met805Leu) c.2317A>C (p.Met773Leu) c.2257A>C (p.Met753Leu) c.2161A>C (p.Met721Leu)	dbSNP gnomAD v4
6	g.43048183T=	CA1624357238	CUL7,KLC4	c.2134A= (p.Met712=) n.2417A= c.2230A= (p.Met744=) n.2433A= c.83A= n.2468A= c.626A= c.-553+4675T= (n.-553+4675T=) c.2386A= (p.Met796=) c.2290A= (p.Met764=) c.-49A= (n.-49A=) c.2413A= (p.Met805=) c.2317A= (p.Met773=) c.2257A= (p.Met753=) c.2161A= (p.Met721=)
6	g.43048184G>A	CA450261537	CUL7,KLC4	c.2133C>T (p.Cys711=) n.2416C>T c.2229C>T (p.Cys743=) n.2432C>T c.82C>T n.2467C>T c.625C>T c.-553+4676G>A (n.-553+4676G>A) c.2385C>T (p.Cys795=) c.2289C>T (p.Cys763=) c.-50C>T (n.-50C>T) c.2412C>T (p.Cys804=) c.2316C>T (p.Cys772=) c.2256C>T (p.Cys752=) c.2160C>T (p.Cys720=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
6	g.43048184G>C	CA364218295	CUL7,KLC4	c.2133C>G (p.Cys711Trp) n.2416C>G c.2229C>G (p.Cys743Trp) n.2432C>G c.82C>G n.2467C>G c.625C>G c.-553+4676G>C (n.-553+4676G>C) c.2385C>G (p.Cys795Trp) c.2289C>G (p.Cys763Trp) c.-50C>G (n.-50C>G) c.2412C>G (p.Cys804Trp) c.2316C>G (p.Cys772Trp) c.2256C>G (p.Cys752Trp) c.2160C>G (p.Cys720Trp)
6	g.43048184G=	CA1624357239	CUL7,KLC4	c.2133C= (p.Cys711=) n.2416C= c.2229C= (p.Cys743=) n.2432C= c.82C= n.2467C= c.625C= c.-553+4676G= (n.-553+4676G=) c.2385C= (p.Cys795=) c.2289C= (p.Cys763=) c.-50C= (n.-50C=) c.2412C= (p.Cys804=) c.2316C= (p.Cys772=) c.2256C= (p.Cys752=) c.2160C= (p.Cys720=)
6	g.43048184G>T	CA364218298	CUL7,KLC4	c.2133C>A (p.Cys711Ter) n.2416C>A c.2229C>A (p.Cys743Ter) n.2432C>A c.82C>A n.2467C>A c.625C>A c.-553+4676G>T (n.-553+4676G>T) c.2385C>A (p.Cys795Ter) c.2289C>A (p.Cys763Ter) c.-50C>A (n.-50C>A) c.2412C>A (p.Cys804Ter) c.2316C>A (p.Cys772Ter) c.2256C>A (p.Cys752Ter) c.2160C>A (p.Cys720Ter)
6	g.43048185C>A	CA364218307	CUL7,KLC4	c.2132G>T (p.Cys711Phe) n.2415G>T c.2228G>T (p.Cys743Phe) n.2431G>T c.81G>T n.2466G>T c.624G>T c.-553+4677C>A (n.-553+4677C>A) c.2384G>T (p.Cys795Phe) c.2288G>T (p.Cys763Phe) c.-51G>T (n.-51G>T) c.2411G>T (p.Cys804Phe) c.2315G>T (p.Cys772Phe) c.2255G>T (p.Cys752Phe) c.2159G>T (p.Cys720Phe)	dbSNP gnomAD v4
6	g.43048185C=	CA1624357240	CUL7,KLC4	c.2132G= (p.Cys711=) n.2415G= c.2228G= (p.Cys743=) n.2431G= c.81G= n.2466G= c.624G= c.-553+4677C= (n.-553+4677C=) c.2384G= (p.Cys795=) c.2288G= (p.Cys763=) c.-51G= (n.-51G=) c.2411G= (p.Cys804=) c.2315G= (p.Cys772=) c.2255G= (p.Cys752=) c.2159G= (p.Cys720=)
6	g.43048185C>G	CA364218305	CUL7,KLC4	c.2132G>C (p.Cys711Ser) n.2415G>C c.2228G>C (p.Cys743Ser) n.2431G>C c.81G>C n.2466G>C c.624G>C c.-553+4677C>G (n.-553+4677C>G) c.2384G>C (p.Cys795Ser) c.2288G>C (p.Cys763Ser) c.-51G>C (n.-51G>C) c.2411G>C (p.Cys804Ser) c.2315G>C (p.Cys772Ser) c.2255G>C (p.Cys752Ser) c.2159G>C (p.Cys720Ser)
6	g.43048185C>T	CA364218303	CUL7,KLC4	c.2132G>A (p.Cys711Tyr) n.2415G>A c.2228G>A (p.Cys743Tyr) n.2431G>A c.81G>A n.2466G>A c.624G>A c.-553+4677C>T (n.-553+4677C>T) c.2384G>A (p.Cys795Tyr) c.2288G>A (p.Cys763Tyr) c.-51G>A (n.-51G>A) c.2411G>A (p.Cys804Tyr) c.2315G>A (p.Cys772Tyr) c.2255G>A (p.Cys752Tyr) c.2159G>A (p.Cys720Tyr)	gnomAD v4
6	g.43048185dup	CA3813979	CUL7,KLC4	c.2132dup (p.Cys711TrpfsTer11) n.2415dup c.2228dup (p.Cys743TrpfsTer11) n.2431dup c.81dup n.2466dup c.624dup c.-553+4677dup (n.-553+4677dup) c.2384dup (p.Cys795TrpfsTer11) c.2288dup (p.Cys763TrpfsTer11) c.-51dup (n.-51dup) c.2411dup (p.Cys804TrpfsTer11) c.2315dup (p.Cys772TrpfsTer11) c.2255dup (p.Cys752TrpfsTer11) c.2159dup (p.Cys720TrpfsTer11)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048185_43048187delinsCAG	CA1624357241	CUL7,KLC4	c.2130_2132delinsCTG (p.Ala710=) n.2413_2415delinsCTG c.2226_2228delinsCTG (p.Ala742=) n.2429_2431delinsCTG c.79_81delinsCTG n.2464_2466delinsCTG c.622_624delinsCTG c.-553+4677_-553+4679delinsCAG (n.-553+4677_-553+4679delinsCAG) c.2382_2384delinsCTG (p.Ala794=) c.2286_2288delinsCTG (p.Ala762=) c.-53_-51delinsCTG (n.-53_-51delinsCTG) c.2409_2411delinsCTG (p.Ala803=) c.2313_2315delinsCTG (p.Ala771=) c.2253_2255delinsCTG (p.Ala751=) c.2157_2159delinsCTG (p.Ala719=)
6	g.43048186A=	CA1624357243	CUL7,KLC4	c.2131T= (p.Cys711=) n.2414T= c.2227T= (p.Cys743=) n.2430T= c.80T= n.2465T= c.623T= c.-553+4678A= (n.-553+4678A=) c.2383T= (p.Cys795=) c.2287T= (p.Cys763=) c.-52T= (n.-52T=) c.2410T= (p.Cys804=) c.2314T= (p.Cys772=) c.2254T= (p.Cys752=) c.2158T= (p.Cys720=)
6	g.43048186A>C	CA364218310	CUL7,KLC4	c.2131T>G (p.Cys711Gly) n.2414T>G c.2227T>G (p.Cys743Gly) n.2430T>G c.80T>G n.2465T>G c.623T>G c.-553+4678A>C (n.-553+4678A>C) c.2383T>G (p.Cys795Gly) c.2287T>G (p.Cys763Gly) c.-52T>G (n.-52T>G) c.2410T>G (p.Cys804Gly) c.2314T>G (p.Cys772Gly) c.2254T>G (p.Cys752Gly) c.2158T>G (p.Cys720Gly)	dbSNP gnomAD v2 gnomAD v4
6	g.43048186A>G	CA364218313	CUL7,KLC4	c.2131T>C (p.Cys711Arg) n.2414T>C c.2227T>C (p.Cys743Arg) n.2430T>C c.80T>C n.2465T>C c.623T>C c.-553+4678A>G (n.-553+4678A>G) c.2383T>C (p.Cys795Arg) c.2287T>C (p.Cys763Arg) c.-52T>C (n.-52T>C) c.2410T>C (p.Cys804Arg) c.2314T>C (p.Cys772Arg) c.2254T>C (p.Cys752Arg) c.2158T>C (p.Cys720Arg)
6	g.43048186A>T	CA364218315	CUL7,KLC4	c.2131T>A (p.Cys711Ser) n.2414T>A c.2227T>A (p.Cys743Ser) n.2430T>A c.80T>A n.2465T>A c.623T>A c.-553+4678A>T (n.-553+4678A>T) c.2383T>A (p.Cys795Ser) c.2287T>A (p.Cys763Ser) c.-52T>A (n.-52T>A) c.2410T>A (p.Cys804Ser) c.2314T>A (p.Cys772Ser) c.2254T>A (p.Cys752Ser) c.2158T>A (p.Cys720Ser)
6	g.43048186_43048187delinsAG	CA1624357242	CUL7,KLC4	c.2130_2131delinsCT (p.Ala710=) n.2413_2414delinsCT c.2226_2227delinsCT (p.Ala742=) n.2429_2430delinsCT c.79_80delinsCT n.2464_2465delinsCT c.622_623delinsCT c.-553+4678_-553+4679delinsAG (n.-553+4678_-553+4679delinsAG) c.2382_2383delinsCT (p.Ala794=) c.2286_2287delinsCT (p.Ala762=) c.-53_-52delinsCT (n.-53_-52delinsCT) c.2409_2410delinsCT (p.Ala803=) c.2313_2314delinsCT (p.Ala771=) c.2253_2254delinsCT (p.Ala751=) c.2157_2158delinsCT (p.Ala719=)
6	g.43048186_43048187delinsCAGGCA	CA658657594	CUL7,KLC4	c.2130_2131delinsTGCCTG (p.Cys711AlafsTer12) n.2413_2414delinsTGCCTG c.2226_2227delinsTGCCTG (p.Cys743AlafsTer12) n.2429_2430delinsTGCCTG c.79_80delinsTGCCTG n.2464_2465delinsTGCCTG c.622_623delinsTGCCTG c.-553+4678_-553+4679delinsCAGGCA (n.-553+4678_-553+4679delinsCAGGCA) c.2382_2383delinsTGCCTG (p.Cys795AlafsTer12) c.2286_2287delinsTGCCTG (p.Cys763AlafsTer12) c.-53_-52delinsTGCCTG (n.-53_-52delinsTGCCTG) c.2409_2410delinsTGCCTG (p.Cys804AlafsTer12) c.2313_2314delinsTGCCTG (p.Cys772AlafsTer12) c.2253_2254delinsTGCCTG (p.Cys752AlafsTer12) c.2157_2158delinsTGCCTG (p.Cys720AlafsTer12)	ClinVar dbSNP
6	g.43048187G>A	CA450261543	CUL7,KLC4	c.2130C>T (p.Ala710=) n.2413C>T c.2226C>T (p.Ala742=) n.2429C>T c.79C>T n.2464C>T c.622C>T c.-553+4679G>A (n.-553+4679G>A) c.2382C>T (p.Ala794=) c.2286C>T (p.Ala762=) c.-53C>T (n.-53C>T) c.2409C>T (p.Ala803=) c.2313C>T (p.Ala771=) c.2253C>T (p.Ala751=) c.2157C>T (p.Ala719=)
6	g.43048187G>C	CA450261542	CUL7,KLC4	c.2130C>G (p.Ala710=) n.2413C>G c.2226C>G (p.Ala742=) n.2429C>G c.79C>G n.2464C>G c.622C>G c.-553+4679G>C (n.-553+4679G>C) c.2382C>G (p.Ala794=) c.2286C>G (p.Ala762=) c.-53C>G (n.-53C>G) c.2409C>G (p.Ala803=) c.2313C>G (p.Ala771=) c.2253C>G (p.Ala751=) c.2157C>G (p.Ala719=)
6	g.43048187G=	CA1624357244	CUL7,KLC4	c.2130C= (p.Ala710=) n.2413C= c.2226C= (p.Ala742=) n.2429C= c.79C= n.2464C= c.622C= c.-553+4679G= (n.-553+4679G=) c.2382C= (p.Ala794=) c.2286C= (p.Ala762=) c.-53C= (n.-53C=) c.2409C= (p.Ala803=) c.2313C= (p.Ala771=) c.2253C= (p.Ala751=) c.2157C= (p.Ala719=)
6	g.43048187G>T	CA450261540	CUL7,KLC4	c.2130C>A (p.Ala710=) n.2413C>A c.2226C>A (p.Ala742=) n.2429C>A c.79C>A n.2464C>A c.622C>A c.-553+4679G>T (n.-553+4679G>T) c.2382C>A (p.Ala794=) c.2286C>A (p.Ala762=) c.-53C>A (n.-53C>A) c.2409C>A (p.Ala803=) c.2313C>A (p.Ala771=) c.2253C>A (p.Ala751=) c.2157C>A (p.Ala719=)
6	g.43048188del	CA138249115	CUL7,KLC4	c.2130del (p.Cys711AlafsTer18) n.2413del c.2226del (p.Cys743AlafsTer14) n.2429del c.79del n.2464del c.2226del (p.Cys743AlafsTer18) c.622del c.-553+4680del (n.-553+4680del) c.2382del (p.Cys795AlafsTer18) c.2286del (p.Cys763AlafsTer18) c.-53del (n.-53del) c.2409del (p.Cys804AlafsTer18) c.2313del (p.Cys772AlafsTer18) c.2253del (p.Cys752AlafsTer18) c.2157del (p.Cys720AlafsTer18)	dbSNP gnomAD v4
6	g.43048188G>A	CA364218325	CUL7,KLC4	c.2129C>T (p.Ala710Val) n.2412C>T c.2225C>T (p.Ala742Val) n.2428C>T c.78C>T n.2463C>T c.621C>T c.-553+4680G>A (n.-553+4680G>A) c.2381C>T (p.Ala794Val) c.2285C>T (p.Ala762Val) c.-54C>T (n.-54C>T) c.2408C>T (p.Ala803Val) c.2312C>T (p.Ala771Val) c.2252C>T (p.Ala751Val) c.2156C>T (p.Ala719Val)
6	g.43048188G>C	CA364218327	CUL7,KLC4	c.2129C>G (p.Ala710Gly) n.2412C>G c.2225C>G (p.Ala742Gly) n.2428C>G c.78C>G n.2463C>G c.621C>G c.-553+4680G>C (n.-553+4680G>C) c.2381C>G (p.Ala794Gly) c.2285C>G (p.Ala762Gly) c.-54C>G (n.-54C>G) c.2408C>G (p.Ala803Gly) c.2312C>G (p.Ala771Gly) c.2252C>G (p.Ala751Gly) c.2156C>G (p.Ala719Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048188G=	CA1624357245	CUL7,KLC4	c.2129C= (p.Ala710=) n.2412C= c.2225C= (p.Ala742=) n.2428C= c.78C= n.2463C= c.621C= c.-553+4680G= (n.-553+4680G=) c.2381C= (p.Ala794=) c.2285C= (p.Ala762=) c.-54C= (n.-54C=) c.2408C= (p.Ala803=) c.2312C= (p.Ala771=) c.2252C= (p.Ala751=) c.2156C= (p.Ala719=)
6	g.43048188G>T	CA364218330	CUL7,KLC4	c.2129C>A (p.Ala710Asp) n.2412C>A c.2225C>A (p.Ala742Asp) n.2428C>A c.78C>A n.2463C>A c.621C>A c.-553+4680G>T (n.-553+4680G>T) c.2381C>A (p.Ala794Asp) c.2285C>A (p.Ala762Asp) c.-54C>A (n.-54C>A) c.2408C>A (p.Ala803Asp) c.2312C>A (p.Ala771Asp) c.2252C>A (p.Ala751Asp) c.2156C>A (p.Ala719Asp)
6	g.43048188_43048190dup	CA3813980	CUL7,KLC4	c.2127_2129dup (p.Ala710_Cys711insAla) n.2410_2412dup c.2223_2225dup (p.Ala742_Cys743insAla) n.2426_2428dup c.76_78dup n.2461_2463dup c.619_621dup c.-553+4680_-553+4682dup (n.-553+4680_-553+4682dup) c.2379_2381dup (p.Ala794_Cys795insAla) c.2283_2285dup (p.Ala762_Cys763insAla) c.-56_-54dup (n.-56_-54dup) c.2406_2408dup (p.Ala803_Cys804insAla) c.2310_2312dup (p.Ala771_Cys772insAla) c.2250_2252dup (p.Ala751_Cys752insAla) c.2154_2156dup (p.Ala719_Cys720insAla)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048189C>A	CA364218334	CUL7,KLC4	c.2128G>T (p.Ala710Ser) n.2411G>T c.2224G>T (p.Ala742Ser) n.2427G>T c.77G>T n.2462G>T c.620G>T c.-553+4681C>A (n.-553+4681C>A) c.2380G>T (p.Ala794Ser) c.2284G>T (p.Ala762Ser) c.-55G>T (n.-55G>T) c.2407G>T (p.Ala803Ser) c.2311G>T (p.Ala771Ser) c.2251G>T (p.Ala751Ser) c.2155G>T (p.Ala719Ser)
6	g.43048189C>G	CA364218336	CUL7,KLC4	c.2128G>C (p.Ala710Pro) n.2411G>C c.2224G>C (p.Ala742Pro) n.2427G>C c.77G>C n.2462G>C c.620G>C c.-553+4681C>G (n.-553+4681C>G) c.2380G>C (p.Ala794Pro) c.2284G>C (p.Ala762Pro) c.-55G>C (n.-55G>C) c.2407G>C (p.Ala803Pro) c.2311G>C (p.Ala771Pro) c.2251G>C (p.Ala751Pro) c.2155G>C (p.Ala719Pro)
6	g.43048189C>T	CA364218338	CUL7,KLC4	c.2128G>A (p.Ala710Thr) n.2411G>A c.2224G>A (p.Ala742Thr) n.2427G>A c.77G>A n.2462G>A c.620G>A c.-553+4681C>T (n.-553+4681C>T) c.2380G>A (p.Ala794Thr) c.2284G>A (p.Ala762Thr) c.-55G>A (n.-55G>A) c.2407G>A (p.Ala803Thr) c.2311G>A (p.Ala771Thr) c.2251G>A (p.Ala751Thr) c.2155G>A (p.Ala719Thr)
6	g.43048190A>C	CA364218344	CUL7,KLC4	c.2127T>G (p.Asp709Glu) n.2410T>G c.2223T>G (p.Asp741Glu) n.2426T>G c.76T>G n.2461T>G c.619T>G c.-553+4682A>C (n.-553+4682A>C) c.2379T>G (p.Asp793Glu) c.2283T>G (p.Asp761Glu) c.-56T>G (n.-56T>G) c.2406T>G (p.Asp802Glu) c.2310T>G (p.Asp770Glu) c.2250T>G (p.Asp750Glu) c.2154T>G (p.Asp718Glu)
6	g.43048190A>G	CA450261546	CUL7,KLC4	c.2127T>C (p.Asp709=) n.2410T>C c.2223T>C (p.Asp741=) n.2426T>C c.76T>C n.2461T>C c.619T>C c.-553+4682A>G (n.-553+4682A>G) c.2379T>C (p.Asp793=) c.2283T>C (p.Asp761=) c.-56T>C (n.-56T>C) c.2406T>C (p.Asp802=) c.2310T>C (p.Asp770=) c.2250T>C (p.Asp750=) c.2154T>C (p.Asp718=)
6	g.43048190A>T	CA364218342	CUL7,KLC4	c.2127T>A (p.Asp709Glu) n.2410T>A c.2223T>A (p.Asp741Glu) n.2426T>A c.76T>A n.2461T>A c.619T>A c.-553+4682A>T (n.-553+4682A>T) c.2379T>A (p.Asp793Glu) c.2283T>A (p.Asp761Glu) c.-56T>A (n.-56T>A) c.2406T>A (p.Asp802Glu) c.2310T>A (p.Asp770Glu) c.2250T>A (p.Asp750Glu) c.2154T>A (p.Asp718Glu)
6	g.43048191T>A	CA3813981	CUL7,KLC4	c.2126A>T (p.Asp709Val) n.2409A>T c.2222A>T (p.Asp741Val) n.2425A>T c.75A>T n.2460A>T c.618A>T c.-553+4683T>A (n.-553+4683T>A) c.2378A>T (p.Asp793Val) c.2282A>T (p.Asp761Val) c.-57A>T (n.-57A>T) c.2405A>T (p.Asp802Val) c.2309A>T (p.Asp770Val) c.2249A>T (p.Asp750Val) c.2153A>T (p.Asp718Val)	dbSNP ExAC
6	g.43048191T>C	CA364218347	CUL7,KLC4	c.2126A>G (p.Asp709Gly) n.2409A>G c.2222A>G (p.Asp741Gly) n.2425A>G c.75A>G n.2460A>G c.618A>G c.-553+4683T>C (n.-553+4683T>C) c.2378A>G (p.Asp793Gly) c.2282A>G (p.Asp761Gly) c.-57A>G (n.-57A>G) c.2405A>G (p.Asp802Gly) c.2309A>G (p.Asp770Gly) c.2249A>G (p.Asp750Gly) c.2153A>G (p.Asp718Gly)
6	g.43048191T>G	CA364218349	CUL7,KLC4	c.2126A>C (p.Asp709Ala) n.2409A>C c.2222A>C (p.Asp741Ala) n.2425A>C c.75A>C n.2460A>C c.618A>C c.-553+4683T>G (n.-553+4683T>G) c.2378A>C (p.Asp793Ala) c.2282A>C (p.Asp761Ala) c.-57A>C (n.-57A>C) c.2405A>C (p.Asp802Ala) c.2309A>C (p.Asp770Ala) c.2249A>C (p.Asp750Ala) c.2153A>C (p.Asp718Ala)
6	g.43048191T=	CA1624357246	CUL7,KLC4	c.2126A= (p.Asp709=) n.2409A= c.2222A= (p.Asp741=) n.2425A= c.75A= n.2460A= c.618A= c.-553+4683T= (n.-553+4683T=) c.2378A= (p.Asp793=) c.2282A= (p.Asp761=) c.-57A= (n.-57A=) c.2405A= (p.Asp802=) c.2309A= (p.Asp770=) c.2249A= (p.Asp750=) c.2153A= (p.Asp718=)
6	g.43048192C>A	CA364218352	CUL7,KLC4	c.2125G>T (p.Asp709Tyr) n.2408G>T c.2221G>T (p.Asp741Tyr) n.2424G>T c.74G>T n.2459G>T c.617G>T c.-553+4684C>A (n.-553+4684C>A) c.2377G>T (p.Asp793Tyr) c.2281G>T (p.Asp761Tyr) c.-58G>T (n.-58G>T) c.2404G>T (p.Asp802Tyr) c.2308G>T (p.Asp770Tyr) c.2248G>T (p.Asp750Tyr) c.2152G>T (p.Asp718Tyr)	dbSNP
6	g.43048192C=	CA1624357247	CUL7,KLC4	c.2125G= (p.Asp709=) n.2408G= c.2221G= (p.Asp741=) n.2424G= c.74G= n.2459G= c.617G= c.-553+4684C= (n.-553+4684C=) c.2377G= (p.Asp793=) c.2281G= (p.Asp761=) c.-58G= (n.-58G=) c.2404G= (p.Asp802=) c.2308G= (p.Asp770=) c.2248G= (p.Asp750=) c.2152G= (p.Asp718=)
6	g.43048192C>G	CA364218355	CUL7,KLC4	c.2125G>C (p.Asp709His) n.2408G>C c.2221G>C (p.Asp741His) n.2424G>C c.74G>C n.2459G>C c.617G>C c.-553+4684C>G (n.-553+4684C>G) c.2377G>C (p.Asp793His) c.2281G>C (p.Asp761His) c.-58G>C (n.-58G>C) c.2404G>C (p.Asp802His) c.2308G>C (p.Asp770His) c.2248G>C (p.Asp750His) c.2152G>C (p.Asp718His)
6	g.43048192C>T	CA364218356	CUL7,KLC4	c.2125G>A (p.Asp709Asn) n.2408G>A c.2221G>A (p.Asp741Asn) n.2424G>A c.74G>A n.2459G>A c.617G>A c.-553+4684C>T (n.-553+4684C>T) c.2377G>A (p.Asp793Asn) c.2281G>A (p.Asp761Asn) c.-58G>A (n.-58G>A) c.2404G>A (p.Asp802Asn) c.2308G>A (p.Asp770Asn) c.2248G>A (p.Asp750Asn) c.2152G>A (p.Asp718Asn)
6	g.43048193C>A	CA450261548	CUL7,KLC4	c.2124G>T (p.Val708=) n.2407G>T c.2220G>T (p.Val740=) n.2423G>T c.73G>T n.2458G>T c.616G>T c.-553+4685C>A (n.-553+4685C>A) c.2376G>T (p.Val792=) c.2280G>T (p.Val760=) c.-59G>T (n.-59G>T) c.2403G>T (p.Val801=) c.2307G>T (p.Val769=) c.2247G>T (p.Val749=) c.2151G>T (p.Val717=)
6	g.43048193C>G	CA450261549	CUL7,KLC4	c.2124G>C (p.Val708=) n.2407G>C c.2220G>C (p.Val740=) n.2423G>C c.73G>C n.2458G>C c.616G>C c.-553+4685C>G (n.-553+4685C>G) c.2376G>C (p.Val792=) c.2280G>C (p.Val760=) c.-59G>C (n.-59G>C) c.2403G>C (p.Val801=) c.2307G>C (p.Val769=) c.2247G>C (p.Val749=) c.2151G>C (p.Val717=)
6	g.43048193C>T	CA450261550	CUL7,KLC4	c.2124G>A (p.Val708=) n.2407G>A c.2220G>A (p.Val740=) n.2423G>A c.73G>A n.2458G>A c.616G>A c.-553+4685C>T (n.-553+4685C>T) c.2376G>A (p.Val792=) c.2280G>A (p.Val760=) c.-59G>A (n.-59G>A) c.2403G>A (p.Val801=) c.2307G>A (p.Val769=) c.2247G>A (p.Val749=) c.2151G>A (p.Val717=)
6	g.43048194A>C	CA364218359	CUL7,KLC4	c.2123T>G (p.Val708Gly) n.2406T>G c.2219T>G (p.Val740Gly) n.2422T>G c.72T>G n.2457T>G c.615T>G c.-553+4686A>C (n.-553+4686A>C) c.2375T>G (p.Val792Gly) c.2279T>G (p.Val760Gly) c.-60T>G (n.-60T>G) c.2402T>G (p.Val801Gly) c.2306T>G (p.Val769Gly) c.2246T>G (p.Val749Gly) c.2150T>G (p.Val717Gly)
6	g.43048194A>G	CA364218361	CUL7,KLC4	c.2123T>C (p.Val708Ala) n.2406T>C c.2219T>C (p.Val740Ala) n.2422T>C c.72T>C n.2457T>C c.615T>C c.-553+4686A>G (n.-553+4686A>G) c.2375T>C (p.Val792Ala) c.2279T>C (p.Val760Ala) c.-60T>C (n.-60T>C) c.2402T>C (p.Val801Ala) c.2306T>C (p.Val769Ala) c.2246T>C (p.Val749Ala) c.2150T>C (p.Val717Ala)
6	g.43048194A>T	CA364218363	CUL7,KLC4	c.2123T>A (p.Val708Glu) n.2406T>A c.2219T>A (p.Val740Glu) n.2422T>A c.72T>A n.2457T>A c.615T>A c.-553+4686A>T (n.-553+4686A>T) c.2375T>A (p.Val792Glu) c.2279T>A (p.Val760Glu) c.-60T>A (n.-60T>A) c.2402T>A (p.Val801Glu) c.2306T>A (p.Val769Glu) c.2246T>A (p.Val749Glu) c.2150T>A (p.Val717Glu)	dbSNP
6	g.43048195C>A	CA364218365	CUL7,KLC4	c.2122G>T (p.Val708Leu) n.2405G>T c.2218G>T (p.Val740Leu) n.2421G>T c.71G>T n.2456G>T c.614G>T c.-553+4687C>A (n.-553+4687C>A) c.2374G>T (p.Val792Leu) c.2278G>T (p.Val760Leu) c.-61G>T (n.-61G>T) c.2401G>T (p.Val801Leu) c.2305G>T (p.Val769Leu) c.2245G>T (p.Val749Leu) c.2149G>T (p.Val717Leu)
6	g.43048195C=	CA1624357248	CUL7,KLC4	c.2122G= (p.Val708=) n.2405G= c.2218G= (p.Val740=) n.2421G= c.71G= n.2456G= c.614G= c.-553+4687C= (n.-553+4687C=) c.2374G= (p.Val792=) c.2278G= (p.Val760=) c.-61G= (n.-61G=) c.2401G= (p.Val801=) c.2305G= (p.Val769=) c.2245G= (p.Val749=) c.2149G= (p.Val717=)
6	g.43048195C>G	CA364218368	CUL7,KLC4	c.2122G>C (p.Val708Leu) n.2405G>C c.2218G>C (p.Val740Leu) n.2421G>C c.71G>C n.2456G>C c.614G>C c.-553+4687C>G (n.-553+4687C>G) c.2374G>C (p.Val792Leu) c.2278G>C (p.Val760Leu) c.-61G>C (n.-61G>C) c.2401G>C (p.Val801Leu) c.2305G>C (p.Val769Leu) c.2245G>C (p.Val749Leu) c.2149G>C (p.Val717Leu)
6	g.43048195C>T	CA3813982	CUL7,KLC4	c.2122G>A (p.Val708Met) n.2405G>A c.2218G>A (p.Val740Met) n.2421G>A c.71G>A n.2456G>A c.614G>A c.-553+4687C>T (n.-553+4687C>T) c.2374G>A (p.Val792Met) c.2278G>A (p.Val760Met) c.-61G>A (n.-61G>A) c.2401G>A (p.Val801Met) c.2305G>A (p.Val769Met) c.2245G>A (p.Val749Met) c.2149G>A (p.Val717Met)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048196G>A	CA3813983	CUL7,KLC4	c.2121C>T (p.Ala707=) n.2404C>T c.2217C>T (p.Ala739=) n.2420C>T c.70C>T n.2455C>T c.613C>T c.-553+4688G>A (n.-553+4688G>A) c.2373C>T (p.Ala791=) c.2277C>T (p.Ala759=) c.-62C>T (n.-62C>T) c.2400C>T (p.Ala800=) c.2304C>T (p.Ala768=) c.2244C>T (p.Ala748=) c.2148C>T (p.Ala716=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048196G>C	CA450261555	CUL7,KLC4	c.2121C>G (p.Ala707=) n.2404C>G c.2217C>G (p.Ala739=) n.2420C>G c.70C>G n.2455C>G c.613C>G c.-553+4688G>C (n.-553+4688G>C) c.2373C>G (p.Ala791=) c.2277C>G (p.Ala759=) c.-62C>G (n.-62C>G) c.2400C>G (p.Ala800=) c.2304C>G (p.Ala768=) c.2244C>G (p.Ala748=) c.2148C>G (p.Ala716=)
6	g.43048196G=	CA1624357249	CUL7,KLC4	c.2121C= (p.Ala707=) n.2404C= c.2217C= (p.Ala739=) n.2420C= c.70C= n.2455C= c.613C= c.-553+4688G= (n.-553+4688G=) c.2373C= (p.Ala791=) c.2277C= (p.Ala759=) c.-62C= (n.-62C=) c.2400C= (p.Ala800=) c.2304C= (p.Ala768=) c.2244C= (p.Ala748=) c.2148C= (p.Ala716=)
6	g.43048196G>T	CA450261557	CUL7,KLC4	c.2121C>A (p.Ala707=) n.2404C>A c.2217C>A (p.Ala739=) n.2420C>A c.70C>A n.2455C>A c.613C>A c.-553+4688G>T (n.-553+4688G>T) c.2373C>A (p.Ala791=) c.2277C>A (p.Ala759=) c.-62C>A (n.-62C>A) c.2400C>A (p.Ala800=) c.2304C>A (p.Ala768=) c.2244C>A (p.Ala748=) c.2148C>A (p.Ala716=)	gnomAD v4
6	g.43048197G>A	CA364218376	CUL7,KLC4	c.2120C>T (p.Ala707Val) n.2403C>T c.2216C>T (p.Ala739Val) n.2419C>T c.69C>T n.2454C>T c.612C>T c.-553+4689G>A (n.-553+4689G>A) c.2372C>T (p.Ala791Val) c.2276C>T (p.Ala759Val) c.-63C>T (n.-63C>T) c.2399C>T (p.Ala800Val) c.2303C>T (p.Ala768Val) c.2243C>T (p.Ala748Val) c.2147C>T (p.Ala716Val)
6	g.43048197G>C	CA364218377	CUL7,KLC4	c.2120C>G (p.Ala707Gly) n.2403C>G c.2216C>G (p.Ala739Gly) n.2419C>G c.69C>G n.2454C>G c.612C>G c.-553+4689G>C (n.-553+4689G>C) c.2372C>G (p.Ala791Gly) c.2276C>G (p.Ala759Gly) c.-63C>G (n.-63C>G) c.2399C>G (p.Ala800Gly) c.2303C>G (p.Ala768Gly) c.2243C>G (p.Ala748Gly) c.2147C>G (p.Ala716Gly)
6	g.43048197G>T	CA364218373	CUL7,KLC4	c.2120C>A (p.Ala707Asp) n.2403C>A c.2216C>A (p.Ala739Asp) n.2419C>A c.69C>A n.2454C>A c.612C>A c.-553+4689G>T (n.-553+4689G>T) c.2372C>A (p.Ala791Asp) c.2276C>A (p.Ala759Asp) c.-63C>A (n.-63C>A) c.2399C>A (p.Ala800Asp) c.2303C>A (p.Ala768Asp) c.2243C>A (p.Ala748Asp) c.2147C>A (p.Ala716Asp)
6	g.43048198C>A	CA364218379	CUL7,KLC4	c.2119G>T (p.Ala707Ser) n.2402G>T c.2215G>T (p.Ala739Ser) n.2418G>T c.68G>T n.2453G>T c.611G>T c.-553+4690C>A (n.-553+4690C>A) c.2371G>T (p.Ala791Ser) c.2275G>T (p.Ala759Ser) c.-64G>T (n.-64G>T) c.2398G>T (p.Ala800Ser) c.2302G>T (p.Ala768Ser) c.2242G>T (p.Ala748Ser) c.2146G>T (p.Ala716Ser)
6	g.43048198C>G	CA364218381	CUL7,KLC4	c.2119G>C (p.Ala707Pro) n.2402G>C c.2215G>C (p.Ala739Pro) n.2418G>C c.68G>C n.2453G>C c.611G>C c.-553+4690C>G (n.-553+4690C>G) c.2371G>C (p.Ala791Pro) c.2275G>C (p.Ala759Pro) c.-64G>C (n.-64G>C) c.2398G>C (p.Ala800Pro) c.2302G>C (p.Ala768Pro) c.2242G>C (p.Ala748Pro) c.2146G>C (p.Ala716Pro)
6	g.43048198C>T	CA364218383	CUL7,KLC4	c.2119G>A (p.Ala707Thr) n.2402G>A c.2215G>A (p.Ala739Thr) n.2418G>A c.68G>A n.2453G>A c.611G>A c.-553+4690C>T (n.-553+4690C>T) c.2371G>A (p.Ala791Thr) c.2275G>A (p.Ala759Thr) c.-64G>A (n.-64G>A) c.2398G>A (p.Ala800Thr) c.2302G>A (p.Ala768Thr) c.2242G>A (p.Ala748Thr) c.2146G>A (p.Ala716Thr)
6	g.43048199C>A	CA364218386	CUL7,KLC4	c.2118G>T (p.Glu706Asp) n.2401G>T c.2214G>T (p.Glu738Asp) n.2417G>T c.67G>T n.2452G>T c.610G>T c.-553+4691C>A (n.-553+4691C>A) c.2370G>T (p.Glu790Asp) c.2274G>T (p.Glu758Asp) c.-65G>T (n.-65G>T) c.2397G>T (p.Glu799Asp) c.2301G>T (p.Glu767Asp) c.2241G>T (p.Glu747Asp) c.2145G>T (p.Glu715Asp)
6	g.43048199C>G	CA364218388	CUL7,KLC4	c.2118G>C (p.Glu706Asp) n.2401G>C c.2214G>C (p.Glu738Asp) n.2417G>C c.67G>C n.2452G>C c.610G>C c.-553+4691C>G (n.-553+4691C>G) c.2370G>C (p.Glu790Asp) c.2274G>C (p.Glu758Asp) c.-65G>C (n.-65G>C) c.2397G>C (p.Glu799Asp) c.2301G>C (p.Glu767Asp) c.2241G>C (p.Glu747Asp) c.2145G>C (p.Glu715Asp)
6	g.43048199C>T	CA450261559	CUL7,KLC4	c.2118G>A (p.Glu706=) n.2401G>A c.2214G>A (p.Glu738=) n.2417G>A c.67G>A n.2452G>A c.610G>A c.-553+4691C>T (n.-553+4691C>T) c.2370G>A (p.Glu790=) c.2274G>A (p.Glu758=) c.-65G>A (n.-65G>A) c.2397G>A (p.Glu799=) c.2301G>A (p.Glu767=) c.2241G>A (p.Glu747=) c.2145G>A (p.Glu715=)	gnomAD v4
6	g.43048200T>A	CA364218395	CUL7,KLC4	c.2117A>T (p.Glu706Val) n.2400A>T c.2213A>T (p.Glu738Val) n.2416A>T c.66A>T n.2451A>T c.609A>T c.-553+4692T>A (n.-553+4692T>A) c.2369A>T (p.Glu790Val) c.2273A>T (p.Glu758Val) c.-66A>T (n.-66A>T) c.2396A>T (p.Glu799Val) c.2300A>T (p.Glu767Val) c.2240A>T (p.Glu747Val) c.2144A>T (p.Glu715Val)
6	g.43048200T>C	CA364218392	CUL7,KLC4	c.2117A>G (p.Glu706Gly) n.2400A>G c.2213A>G (p.Glu738Gly) n.2416A>G c.66A>G n.2451A>G c.609A>G c.-553+4692T>C (n.-553+4692T>C) c.2369A>G (p.Glu790Gly) c.2273A>G (p.Glu758Gly) c.-66A>G (n.-66A>G) c.2396A>G (p.Glu799Gly) c.2300A>G (p.Glu767Gly) c.2240A>G (p.Glu747Gly) c.2144A>G (p.Glu715Gly)
6	g.43048200T>G	CA364218389	CUL7,KLC4	c.2117A>C (p.Glu706Ala) n.2400A>C c.2213A>C (p.Glu738Ala) n.2416A>C c.66A>C n.2451A>C c.609A>C c.-553+4692T>G (n.-553+4692T>G) c.2369A>C (p.Glu790Ala) c.2273A>C (p.Glu758Ala) c.-66A>C (n.-66A>C) c.2396A>C (p.Glu799Ala) c.2300A>C (p.Glu767Ala) c.2240A>C (p.Glu747Ala) c.2144A>C (p.Glu715Ala)
6	g.43048201C>A	CA364218402	CUL7,KLC4	c.2116G>T (p.Glu706Ter) n.2399G>T c.2212G>T (p.Glu738Ter) n.2415G>T c.65G>T n.2450G>T c.608G>T c.-553+4693C>A (n.-553+4693C>A) c.2368G>T (p.Glu790Ter) c.2272G>T (p.Glu758Ter) c.-67G>T (n.-67G>T) c.2395G>T (p.Glu799Ter) c.2299G>T (p.Glu767Ter) c.2239G>T (p.Glu747Ter) c.2143G>T (p.Glu715Ter)
6	g.43048201C=	CA1624357250	CUL7,KLC4	c.2116G= (p.Glu706=) n.2399G= c.2212G= (p.Glu738=) n.2415G= c.65G= n.2450G= c.608G= c.-553+4693C= (n.-553+4693C=) c.2368G= (p.Glu790=) c.2272G= (p.Glu758=) c.-67G= (n.-67G=) c.2395G= (p.Glu799=) c.2299G= (p.Glu767=) c.2239G= (p.Glu747=) c.2143G= (p.Glu715=)
6	g.43048201C>G	CA364218404	CUL7,KLC4	c.2116G>C (p.Glu706Gln) n.2399G>C c.2212G>C (p.Glu738Gln) n.2415G>C c.65G>C n.2450G>C c.608G>C c.-553+4693C>G (n.-553+4693C>G) c.2368G>C (p.Glu790Gln) c.2272G>C (p.Glu758Gln) c.-67G>C (n.-67G>C) c.2395G>C (p.Glu799Gln) c.2299G>C (p.Glu767Gln) c.2239G>C (p.Glu747Gln) c.2143G>C (p.Glu715Gln)
6	g.43048201C>T	CA3813984	CUL7,KLC4	c.2116G>A (p.Glu706Lys) n.2399G>A c.2212G>A (p.Glu738Lys) n.2415G>A c.65G>A n.2450G>A c.608G>A c.-553+4693C>T (n.-553+4693C>T) c.2368G>A (p.Glu790Lys) c.2272G>A (p.Glu758Lys) c.-67G>A (n.-67G>A) c.2395G>A (p.Glu799Lys) c.2299G>A (p.Glu767Lys) c.2239G>A (p.Glu747Lys) c.2143G>A (p.Glu715Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048202G>A	CA3813985	CUL7,KLC4	c.2115C>T (p.His705=) n.2398C>T c.2211C>T (p.His737=) n.2414C>T c.64C>T n.2449C>T c.607C>T c.-553+4694G>A (n.-553+4694G>A) c.2367C>T (p.His789=) c.2271C>T (p.His757=) c.-68C>T (n.-68C>T) c.2394C>T (p.His798=) c.2298C>T (p.His766=) c.2238C>T (p.His746=) c.2142C>T (p.His714=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048202G>C	CA364218411	CUL7,KLC4	c.2115C>G (p.His705Gln) n.2398C>G c.2211C>G (p.His737Gln) n.2414C>G c.64C>G n.2449C>G c.607C>G c.-553+4694G>C (n.-553+4694G>C) c.2367C>G (p.His789Gln) c.2271C>G (p.His757Gln) c.-68C>G (n.-68C>G) c.2394C>G (p.His798Gln) c.2298C>G (p.His766Gln) c.2238C>G (p.His746Gln) c.2142C>G (p.His714Gln)
6	g.43048202G=	CA1624357251	CUL7,KLC4	c.2115C= (p.His705=) n.2398C= c.2211C= (p.His737=) n.2414C= c.64C= n.2449C= c.607C= c.-553+4694G= (n.-553+4694G=) c.2367C= (p.His789=) c.2271C= (p.His757=) c.-68C= (n.-68C=) c.2394C= (p.His798=) c.2298C= (p.His766=) c.2238C= (p.His746=) c.2142C= (p.His714=)
6	g.43048202G>T	CA364218414	CUL7,KLC4	c.2115C>A (p.His705Gln) n.2398C>A c.2211C>A (p.His737Gln) n.2414C>A c.64C>A n.2449C>A c.607C>A c.-553+4694G>T (n.-553+4694G>T) c.2367C>A (p.His789Gln) c.2271C>A (p.His757Gln) c.-68C>A (n.-68C>A) c.2394C>A (p.His798Gln) c.2298C>A (p.His766Gln) c.2238C>A (p.His746Gln) c.2142C>A (p.His714Gln)	gnomAD v4
6	g.43048203T>A	CA364218416	CUL7,KLC4	c.2114A>T (p.His705Leu) n.2397A>T c.2210A>T (p.His737Leu) n.2413A>T c.63A>T n.2448A>T c.606A>T c.-553+4695T>A (n.-553+4695T>A) c.2366A>T (p.His789Leu) c.2270A>T (p.His757Leu) c.-69A>T (n.-69A>T) c.2393A>T (p.His798Leu) c.2297A>T (p.His766Leu) c.2237A>T (p.His746Leu) c.2141A>T (p.His714Leu)
6	g.43048203T>C	CA364218421	CUL7,KLC4	c.2114A>G (p.His705Arg) n.2397A>G c.2210A>G (p.His737Arg) n.2413A>G c.63A>G n.2448A>G c.606A>G c.-553+4695T>C (n.-553+4695T>C) c.2366A>G (p.His789Arg) c.2270A>G (p.His757Arg) c.-69A>G (n.-69A>G) c.2393A>G (p.His798Arg) c.2297A>G (p.His766Arg) c.2237A>G (p.His746Arg) c.2141A>G (p.His714Arg)	gnomAD v4
6	g.43048203T>G	CA364218418	CUL7,KLC4	c.2114A>C (p.His705Pro) n.2397A>C c.2210A>C (p.His737Pro) n.2413A>C c.63A>C n.2448A>C c.606A>C c.-553+4695T>G (n.-553+4695T>G) c.2366A>C (p.His789Pro) c.2270A>C (p.His757Pro) c.-69A>C (n.-69A>C) c.2393A>C (p.His798Pro) c.2297A>C (p.His766Pro) c.2237A>C (p.His746Pro) c.2141A>C (p.His714Pro)
6	g.43048204G>A	CA364218423	CUL7,KLC4	c.2113C>T (p.His705Tyr) n.2396C>T c.2209C>T (p.His737Tyr) n.2412C>T c.62C>T n.2447C>T c.605C>T c.-553+4696G>A (n.-553+4696G>A) c.2365C>T (p.His789Tyr) c.2269C>T (p.His757Tyr) c.-70C>T (n.-70C>T) c.2392C>T (p.His798Tyr) c.2296C>T (p.His766Tyr) c.2236C>T (p.His746Tyr) c.2140C>T (p.His714Tyr)	dbSNP
6	g.43048204G>C	CA364218425	CUL7,KLC4	c.2113C>G (p.His705Asp) n.2396C>G c.2209C>G (p.His737Asp) n.2412C>G c.62C>G n.2447C>G c.605C>G c.-553+4696G>C (n.-553+4696G>C) c.2365C>G (p.His789Asp) c.2269C>G (p.His757Asp) c.-70C>G (n.-70C>G) c.2392C>G (p.His798Asp) c.2296C>G (p.His766Asp) c.2236C>G (p.His746Asp) c.2140C>G (p.His714Asp)
6	g.43048204G=	CA1624357252	CUL7,KLC4	c.2113C= (p.His705=) n.2396C= c.2209C= (p.His737=) n.2412C= c.62C= n.2447C= c.605C= c.-553+4696G= (n.-553+4696G=) c.2365C= (p.His789=) c.2269C= (p.His757=) c.-70C= (n.-70C=) c.2392C= (p.His798=) c.2296C= (p.His766=) c.2236C= (p.His746=) c.2140C= (p.His714=)
6	g.43048204G>T	CA364218426	CUL7,KLC4	c.2113C>A (p.His705Asn) n.2396C>A c.2209C>A (p.His737Asn) n.2412C>A c.62C>A n.2447C>A c.605C>A c.-553+4696G>T (n.-553+4696G>T) c.2365C>A (p.His789Asn) c.2269C>A (p.His757Asn) c.-70C>A (n.-70C>A) c.2392C>A (p.His798Asn) c.2296C>A (p.His766Asn) c.2236C>A (p.His746Asn) c.2140C>A (p.His714Asn)	gnomAD v4
6	g.43048205C>A	CA364218429	CUL7,KLC4	c.2112G>T (p.Trp704Cys) n.2395G>T c.2208G>T (p.Trp736Cys) n.2411G>T c.61G>T n.2446G>T c.604G>T c.-553+4697C>A (n.-553+4697C>A) c.2364G>T (p.Trp788Cys) c.2268G>T (p.Trp756Cys) c.-71G>T (n.-71G>T) c.2391G>T (p.Trp797Cys) c.2295G>T (p.Trp765Cys) c.2235G>T (p.Trp745Cys) c.2139G>T (p.Trp713Cys)
6	g.43048205C=	CA1624357253	CUL7,KLC4	c.2112G= (p.Trp704=) n.2395G= c.2208G= (p.Trp736=) n.2411G= c.61G= n.2446G= c.604G= c.-553+4697C= (n.-553+4697C=) c.2364G= (p.Trp788=) c.2268G= (p.Trp756=) c.-71G= (n.-71G=) c.2391G= (p.Trp797=) c.2295G= (p.Trp765=) c.2235G= (p.Trp745=) c.2139G= (p.Trp713=)
6	g.43048205C>G	CA364218432	CUL7,KLC4	c.2112G>C (p.Trp704Cys) n.2395G>C c.2208G>C (p.Trp736Cys) n.2411G>C c.61G>C n.2446G>C c.604G>C c.-553+4697C>G (n.-553+4697C>G) c.2364G>C (p.Trp788Cys) c.2268G>C (p.Trp756Cys) c.-71G>C (n.-71G>C) c.2391G>C (p.Trp797Cys) c.2295G>C (p.Trp765Cys) c.2235G>C (p.Trp745Cys) c.2139G>C (p.Trp713Cys)
6	g.43048205C>T	CA364218434	CUL7,KLC4	c.2112G>A (p.Trp704Ter) n.2395G>A c.2208G>A (p.Trp736Ter) n.2411G>A c.61G>A n.2446G>A c.604G>A c.-553+4697C>T (n.-553+4697C>T) c.2364G>A (p.Trp788Ter) c.2268G>A (p.Trp756Ter) c.-71G>A (n.-71G>A) c.2391G>A (p.Trp797Ter) c.2295G>A (p.Trp765Ter) c.2235G>A (p.Trp745Ter) c.2139G>A (p.Trp713Ter)	ClinVar dbSNP
6	g.43048206C>A	CA364218437	CUL7,KLC4	c.2111G>T (p.Trp704Leu) n.2394G>T c.2207G>T (p.Trp736Leu) n.2410G>T c.60G>T n.2445G>T c.603G>T c.-553+4698C>A (n.-553+4698C>A) c.2363G>T (p.Trp788Leu) c.2267G>T (p.Trp756Leu) c.-72G>T (n.-72G>T) c.2390G>T (p.Trp797Leu) c.2294G>T (p.Trp765Leu) c.2234G>T (p.Trp745Leu) c.2138G>T (p.Trp713Leu)
6	g.43048206C=	CA1624357254	CUL7,KLC4	c.2111G= (p.Trp704=) n.2394G= c.2207G= (p.Trp736=) n.2410G= c.60G= n.2445G= c.603G= c.-553+4698C= (n.-553+4698C=) c.2363G= (p.Trp788=) c.2267G= (p.Trp756=) c.-72G= (n.-72G=) c.2390G= (p.Trp797=) c.2294G= (p.Trp765=) c.2234G= (p.Trp745=) c.2138G= (p.Trp713=)
6	g.43048206C>G	CA364218438	CUL7,KLC4	c.2111G>C (p.Trp704Ser) n.2394G>C c.2207G>C (p.Trp736Ser) n.2410G>C c.60G>C n.2445G>C c.603G>C c.-553+4698C>G (n.-553+4698C>G) c.2363G>C (p.Trp788Ser) c.2267G>C (p.Trp756Ser) c.-72G>C (n.-72G>C) c.2390G>C (p.Trp797Ser) c.2294G>C (p.Trp765Ser) c.2234G>C (p.Trp745Ser) c.2138G>C (p.Trp713Ser)
6	g.43048206C>T	CA364218440	CUL7,KLC4	c.2111G>A (p.Trp704Ter) n.2394G>A c.2207G>A (p.Trp736Ter) n.2410G>A c.60G>A n.2445G>A c.603G>A c.-553+4698C>T (n.-553+4698C>T) c.2363G>A (p.Trp788Ter) c.2267G>A (p.Trp756Ter) c.-72G>A (n.-72G>A) c.2390G>A (p.Trp797Ter) c.2294G>A (p.Trp765Ter) c.2234G>A (p.Trp745Ter) c.2138G>A (p.Trp713Ter)	dbSNP gnomAD v4
6	g.43048207A>C	CA364218442	CUL7,KLC4	c.2110T>G (p.Trp704Gly) n.2393T>G c.2206T>G (p.Trp736Gly) n.2409T>G c.59T>G n.2444T>G c.602T>G c.-553+4699A>C (n.-553+4699A>C) c.2362T>G (p.Trp788Gly) c.2266T>G (p.Trp756Gly) c.-73T>G (n.-73T>G) c.2389T>G (p.Trp797Gly) c.2293T>G (p.Trp765Gly) c.2233T>G (p.Trp745Gly) c.2137T>G (p.Trp713Gly)
6	g.43048207A>G	CA364218445	CUL7,KLC4	c.2110T>C (p.Trp704Arg) n.2393T>C c.2206T>C (p.Trp736Arg) n.2409T>C c.59T>C n.2444T>C c.602T>C c.-553+4699A>G (n.-553+4699A>G) c.2362T>C (p.Trp788Arg) c.2266T>C (p.Trp756Arg) c.-73T>C (n.-73T>C) c.2389T>C (p.Trp797Arg) c.2293T>C (p.Trp765Arg) c.2233T>C (p.Trp745Arg) c.2137T>C (p.Trp713Arg)
6	g.43048207A>T	CA364218446	CUL7,KLC4	c.2110T>A (p.Trp704Arg) n.2393T>A c.2206T>A (p.Trp736Arg) n.2409T>A c.59T>A n.2444T>A c.602T>A c.-553+4699A>T (n.-553+4699A>T) c.2362T>A (p.Trp788Arg) c.2266T>A (p.Trp756Arg) c.-73T>A (n.-73T>A) c.2389T>A (p.Trp797Arg) c.2293T>A (p.Trp765Arg) c.2233T>A (p.Trp745Arg) c.2137T>A (p.Trp713Arg)
6	g.43048208G>A	CA450261563	CUL7,KLC4	c.2109C>T (p.Pro703=) n.2392C>T c.2205C>T (p.Pro735=) n.2408C>T c.58C>T n.2443C>T c.601C>T c.-553+4700G>A (n.-553+4700G>A) c.2361C>T (p.Pro787=) c.2265C>T (p.Pro755=) c.-74C>T (n.-74C>T) c.2388C>T (p.Pro796=) c.2292C>T (p.Pro764=) c.2232C>T (p.Pro744=) c.2136C>T (p.Pro712=)	dbSNP gnomAD v3 gnomAD v4
6	g.43048208G>C	CA450261569	CUL7,KLC4	c.2109C>G (p.Pro703=) n.2392C>G c.2205C>G (p.Pro735=) n.2408C>G c.58C>G n.2443C>G c.601C>G c.-553+4700G>C (n.-553+4700G>C) c.2361C>G (p.Pro787=) c.2265C>G (p.Pro755=) c.-74C>G (n.-74C>G) c.2388C>G (p.Pro796=) c.2292C>G (p.Pro764=) c.2232C>G (p.Pro744=) c.2136C>G (p.Pro712=)
6	g.43048208G=	CA1624357255	CUL7,KLC4	c.2109C= (p.Pro703=) n.2392C= c.2205C= (p.Pro735=) n.2408C= c.58C= n.2443C= c.601C= c.-553+4700G= (n.-553+4700G=) c.2361C= (p.Pro787=) c.2265C= (p.Pro755=) c.-74C= (n.-74C=) c.2388C= (p.Pro796=) c.2292C= (p.Pro764=) c.2232C= (p.Pro744=) c.2136C= (p.Pro712=)
6	g.43048208G>T	CA450261564	CUL7,KLC4	c.2109C>A (p.Pro703=) n.2392C>A c.2205C>A (p.Pro735=) n.2408C>A c.58C>A n.2443C>A c.601C>A c.-553+4700G>T (n.-553+4700G>T) c.2361C>A (p.Pro787=) c.2265C>A (p.Pro755=) c.-74C>A (n.-74C>A) c.2388C>A (p.Pro796=) c.2292C>A (p.Pro764=) c.2232C>A (p.Pro744=) c.2136C>A (p.Pro712=)
6	g.43048211del	CA2770820618	CUL7,KLC4	c.2109del (p.Trp704GlyfsTer25) n.2392del c.2205del (p.Trp736GlyfsTer21) n.2408del c.58del n.2443del c.2205del (p.Trp736GlyfsTer25) c.601del c.-553+4703del (n.-553+4703del) c.2361del (p.Trp788GlyfsTer25) c.2265del (p.Trp756GlyfsTer25) c.-74del (n.-74del) c.2388del (p.Trp797GlyfsTer25) c.2292del (p.Trp765GlyfsTer25) c.2232del (p.Trp745GlyfsTer25) c.2136del (p.Trp713GlyfsTer25)
6	g.43048209G>A	CA364218451	CUL7,KLC4	c.2108C>T (p.Pro703Leu) n.2391C>T c.2204C>T (p.Pro735Leu) n.2407C>T c.57C>T n.2442C>T c.600C>T c.-553+4701G>A (n.-553+4701G>A) c.2360C>T (p.Pro787Leu) c.2264C>T (p.Pro755Leu) c.-75C>T (n.-75C>T) c.2387C>T (p.Pro796Leu) c.2291C>T (p.Pro764Leu) c.2231C>T (p.Pro744Leu) c.2135C>T (p.Pro712Leu)
6	g.43048209G>C	CA364218456	CUL7,KLC4	c.2108C>G (p.Pro703Arg) n.2391C>G c.2204C>G (p.Pro735Arg) n.2407C>G c.57C>G n.2442C>G c.600C>G c.-553+4701G>C (n.-553+4701G>C) c.2360C>G (p.Pro787Arg) c.2264C>G (p.Pro755Arg) c.-75C>G (n.-75C>G) c.2387C>G (p.Pro796Arg) c.2291C>G (p.Pro764Arg) c.2231C>G (p.Pro744Arg) c.2135C>G (p.Pro712Arg)
6	g.43048209G>T	CA364218453	CUL7,KLC4	c.2108C>A (p.Pro703His) n.2391C>A c.2204C>A (p.Pro735His) n.2407C>A c.57C>A n.2442C>A c.600C>A c.-553+4701G>T (n.-553+4701G>T) c.2360C>A (p.Pro787His) c.2264C>A (p.Pro755His) c.-75C>A (n.-75C>A) c.2387C>A (p.Pro796His) c.2291C>A (p.Pro764His) c.2231C>A (p.Pro744His) c.2135C>A (p.Pro712His)
6	g.43048210G>A	CA364218459	CUL7,KLC4	c.2107C>T (p.Pro703Ser) n.2390C>T c.2203C>T (p.Pro735Ser) n.2406C>T c.56C>T n.2441C>T c.599C>T c.-553+4702G>A (n.-553+4702G>A) c.2359C>T (p.Pro787Ser) c.2263C>T (p.Pro755Ser) c.-76C>T (n.-76C>T) c.2386C>T (p.Pro796Ser) c.2290C>T (p.Pro764Ser) c.2230C>T (p.Pro744Ser) c.2134C>T (p.Pro712Ser)	dbSNP gnomAD v2 gnomAD v4
6	g.43048210G>C	CA364218461	CUL7,KLC4	c.2107C>G (p.Pro703Ala) n.2390C>G c.2203C>G (p.Pro735Ala) n.2406C>G c.56C>G n.2441C>G c.599C>G c.-553+4702G>C (n.-553+4702G>C) c.2359C>G (p.Pro787Ala) c.2263C>G (p.Pro755Ala) c.-76C>G (n.-76C>G) c.2386C>G (p.Pro796Ala) c.2290C>G (p.Pro764Ala) c.2230C>G (p.Pro744Ala) c.2134C>G (p.Pro712Ala)
6	g.43048210G=	CA1624357256	CUL7,KLC4	c.2107C= (p.Pro703=) n.2390C= c.2203C= (p.Pro735=) n.2406C= c.56C= n.2441C= c.599C= c.-553+4702G= (n.-553+4702G=) c.2359C= (p.Pro787=) c.2263C= (p.Pro755=) c.-76C= (n.-76C=) c.2386C= (p.Pro796=) c.2290C= (p.Pro764=) c.2230C= (p.Pro744=) c.2134C= (p.Pro712=)
6	g.43048210G>T	CA364218464	CUL7,KLC4	c.2107C>A (p.Pro703Thr) n.2390C>A c.2203C>A (p.Pro735Thr) n.2406C>A c.56C>A n.2441C>A c.599C>A c.-553+4702G>T (n.-553+4702G>T) c.2359C>A (p.Pro787Thr) c.2263C>A (p.Pro755Thr) c.-76C>A (n.-76C>A) c.2386C>A (p.Pro796Thr) c.2290C>A (p.Pro764Thr) c.2230C>A (p.Pro744Thr) c.2134C>A (p.Pro712Thr)
6	g.43048211G>A	CA450261574	CUL7,KLC4	c.2106C>T (p.Leu702=) n.2389C>T c.2202C>T (p.Leu734=) n.2405C>T c.55C>T n.2440C>T c.598C>T c.-553+4703G>A (n.-553+4703G>A) c.2358C>T (p.Leu786=) c.2262C>T (p.Leu754=) c.-77C>T (n.-77C>T) c.2385C>T (p.Leu795=) c.2289C>T (p.Leu763=) c.2229C>T (p.Leu743=) c.2133C>T (p.Leu711=)	dbSNP gnomAD v2 gnomAD v4
6	g.43048211G>C	CA450261575	CUL7,KLC4	c.2106C>G (p.Leu702=) n.2389C>G c.2202C>G (p.Leu734=) n.2405C>G c.55C>G n.2440C>G c.598C>G c.-553+4703G>C (n.-553+4703G>C) c.2358C>G (p.Leu786=) c.2262C>G (p.Leu754=) c.-77C>G (n.-77C>G) c.2385C>G (p.Leu795=) c.2289C>G (p.Leu763=) c.2229C>G (p.Leu743=) c.2133C>G (p.Leu711=)
6	g.43048211G=	CA1624357257	CUL7,KLC4	c.2106C= (p.Leu702=) n.2389C= c.2202C= (p.Leu734=) n.2405C= c.55C= n.2440C= c.598C= c.-553+4703G= (n.-553+4703G=) c.2358C= (p.Leu786=) c.2262C= (p.Leu754=) c.-77C= (n.-77C=) c.2385C= (p.Leu795=) c.2289C= (p.Leu763=) c.2229C= (p.Leu743=) c.2133C= (p.Leu711=)
6	g.43048211G>T	CA450261576	CUL7,KLC4	c.2106C>A (p.Leu702=) n.2389C>A c.2202C>A (p.Leu734=) n.2405C>A c.55C>A n.2440C>A c.598C>A c.-553+4703G>T (n.-553+4703G>T) c.2358C>A (p.Leu786=) c.2262C>A (p.Leu754=) c.-77C>A (n.-77C>A) c.2385C>A (p.Leu795=) c.2289C>A (p.Leu763=) c.2229C>A (p.Leu743=) c.2133C>A (p.Leu711=)
6	g.43048212A>C	CA364218467	CUL7,KLC4	c.2105T>G (p.Leu702Arg) n.2388T>G c.2201T>G (p.Leu734Arg) n.2404T>G c.54T>G n.2439T>G c.597T>G c.-553+4704A>C (n.-553+4704A>C) c.2357T>G (p.Leu786Arg) c.2261T>G (p.Leu754Arg) c.-78T>G (n.-78T>G) c.2384T>G (p.Leu795Arg) c.2288T>G (p.Leu763Arg) c.2228T>G (p.Leu743Arg) c.2132T>G (p.Leu711Arg)	gnomAD v4
6	g.43048212A>G	CA364218468	CUL7,KLC4	c.2105T>C (p.Leu702Pro) n.2388T>C c.2201T>C (p.Leu734Pro) n.2404T>C c.54T>C n.2439T>C c.597T>C c.-553+4704A>G (n.-553+4704A>G) c.2357T>C (p.Leu786Pro) c.2261T>C (p.Leu754Pro) c.-78T>C (n.-78T>C) c.2384T>C (p.Leu795Pro) c.2288T>C (p.Leu763Pro) c.2228T>C (p.Leu743Pro) c.2132T>C (p.Leu711Pro)
6	g.43048212A>T	CA364218471	CUL7,KLC4	c.2105T>A (p.Leu702His) n.2388T>A c.2201T>A (p.Leu734His) n.2404T>A c.54T>A n.2439T>A c.597T>A c.-553+4704A>T (n.-553+4704A>T) c.2357T>A (p.Leu786His) c.2261T>A (p.Leu754His) c.-78T>A (n.-78T>A) c.2384T>A (p.Leu795His) c.2288T>A (p.Leu763His) c.2228T>A (p.Leu743His) c.2132T>A (p.Leu711His)
6	g.43048213G>A	CA364218475	CUL7,KLC4	c.2104C>T (p.Leu702Phe) n.2387C>T c.2200C>T (p.Leu734Phe) n.2403C>T c.53C>T n.2438C>T c.596C>T c.-553+4705G>A (n.-553+4705G>A) c.2356C>T (p.Leu786Phe) c.2260C>T (p.Leu754Phe) c.-79C>T (n.-79C>T) c.2383C>T (p.Leu795Phe) c.2287C>T (p.Leu763Phe) c.2227C>T (p.Leu743Phe) c.2131C>T (p.Leu711Phe)
6	g.43048213G>C	CA364218477	CUL7,KLC4	c.2104C>G (p.Leu702Val) n.2387C>G c.2200C>G (p.Leu734Val) n.2403C>G c.53C>G n.2438C>G c.596C>G c.-553+4705G>C (n.-553+4705G>C) c.2356C>G (p.Leu786Val) c.2260C>G (p.Leu754Val) c.-79C>G (n.-79C>G) c.2383C>G (p.Leu795Val) c.2287C>G (p.Leu763Val) c.2227C>G (p.Leu743Val) c.2131C>G (p.Leu711Val)
6	g.43048213G>T	CA364218481	CUL7,KLC4	c.2104C>A (p.Leu702Ile) n.2387C>A c.2200C>A (p.Leu734Ile) n.2403C>A c.53C>A n.2438C>A c.596C>A c.-553+4705G>T (n.-553+4705G>T) c.2356C>A (p.Leu786Ile) c.2260C>A (p.Leu754Ile) c.-79C>A (n.-79C>A) c.2383C>A (p.Leu795Ile) c.2287C>A (p.Leu763Ile) c.2227C>A (p.Leu743Ile) c.2131C>A (p.Leu711Ile)
6	g.43048214C>A	CA450261581	CUL7,KLC4	c.2103G>T (p.Leu701=) n.2386G>T c.2199G>T (p.Leu733=) n.2402G>T c.52G>T n.2437G>T c.595G>T c.-553+4706C>A (n.-553+4706C>A) c.2355G>T (p.Leu785=) c.2259G>T (p.Leu753=) c.-80G>T (n.-80G>T) c.2382G>T (p.Leu794=) c.2286G>T (p.Leu762=) c.2226G>T (p.Leu742=) c.2130G>T (p.Leu710=)
6	g.43048214C=	CA1624357258	CUL7,KLC4	c.2103G= (p.Leu701=) n.2386G= c.2199G= (p.Leu733=) n.2402G= c.52G= n.2437G= c.595G= c.-553+4706C= (n.-553+4706C=) c.2355G= (p.Leu785=) c.2259G= (p.Leu753=) c.-80G= (n.-80G=) c.2382G= (p.Leu794=) c.2286G= (p.Leu762=) c.2226G= (p.Leu742=) c.2130G= (p.Leu710=)
6	g.43048214C>G	CA450261582	CUL7,KLC4	c.2103G>C (p.Leu701=) n.2386G>C c.2199G>C (p.Leu733=) n.2402G>C c.52G>C n.2437G>C c.595G>C c.-553+4706C>G (n.-553+4706C>G) c.2355G>C (p.Leu785=) c.2259G>C (p.Leu753=) c.-80G>C (n.-80G>C) c.2382G>C (p.Leu794=) c.2286G>C (p.Leu762=) c.2226G>C (p.Leu742=) c.2130G>C (p.Leu710=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048214C>T	CA450261583	CUL7,KLC4	c.2103G>A (p.Leu701=) n.2386G>A c.2199G>A (p.Leu733=) n.2402G>A c.52G>A n.2437G>A c.595G>A c.-553+4706C>T (n.-553+4706C>T) c.2355G>A (p.Leu785=) c.2259G>A (p.Leu753=) c.-80G>A (n.-80G>A) c.2382G>A (p.Leu794=) c.2286G>A (p.Leu762=) c.2226G>A (p.Leu742=) c.2130G>A (p.Leu710=)	dbSNP
6	g.43048215A>C	CA364218484	CUL7,KLC4	c.2102T>G (p.Leu701Arg) n.2385T>G c.2198T>G (p.Leu733Arg) n.2401T>G c.51T>G n.2436T>G c.594T>G c.-553+4707A>C (n.-553+4707A>C) c.2354T>G (p.Leu785Arg) c.2258T>G (p.Leu753Arg) c.-81T>G (n.-81T>G) c.2381T>G (p.Leu794Arg) c.2285T>G (p.Leu762Arg) c.2225T>G (p.Leu742Arg) c.2129T>G (p.Leu710Arg)
6	g.43048215A>G	CA364218485	CUL7,KLC4	c.2102T>C (p.Leu701Pro) n.2385T>C c.2198T>C (p.Leu733Pro) n.2401T>C c.51T>C n.2436T>C c.594T>C c.-553+4707A>G (n.-553+4707A>G) c.2354T>C (p.Leu785Pro) c.2258T>C (p.Leu753Pro) c.-81T>C (n.-81T>C) c.2381T>C (p.Leu794Pro) c.2285T>C (p.Leu762Pro) c.2225T>C (p.Leu742Pro) c.2129T>C (p.Leu710Pro)
6	g.43048215A>T	CA364218487	CUL7,KLC4	c.2102T>A (p.Leu701Gln) n.2385T>A c.2198T>A (p.Leu733Gln) n.2401T>A c.51T>A n.2436T>A c.594T>A c.-553+4707A>T (n.-553+4707A>T) c.2354T>A (p.Leu785Gln) c.2258T>A (p.Leu753Gln) c.-81T>A (n.-81T>A) c.2381T>A (p.Leu794Gln) c.2285T>A (p.Leu762Gln) c.2225T>A (p.Leu742Gln) c.2129T>A (p.Leu710Gln)
6	g.43048216G>A	CA450261587	CUL7,KLC4	c.2101C>T (p.Leu701=) n.2384C>T c.2197C>T (p.Leu733=) n.2400C>T c.50C>T n.2435C>T c.593C>T c.-553+4708G>A (n.-553+4708G>A) c.2353C>T (p.Leu785=) c.2257C>T (p.Leu753=) c.-82C>T (n.-82C>T) c.2380C>T (p.Leu794=) c.2284C>T (p.Leu762=) c.2224C>T (p.Leu742=) c.2128C>T (p.Leu710=)
6	g.43048216G>C	CA364218492	CUL7,KLC4	c.2101C>G (p.Leu701Val) n.2384C>G c.2197C>G (p.Leu733Val) n.2400C>G c.50C>G n.2435C>G c.593C>G c.-553+4708G>C (n.-553+4708G>C) c.2353C>G (p.Leu785Val) c.2257C>G (p.Leu753Val) c.-82C>G (n.-82C>G) c.2380C>G (p.Leu794Val) c.2284C>G (p.Leu762Val) c.2224C>G (p.Leu742Val) c.2128C>G (p.Leu710Val)
6	g.43048216G>T	CA364218490	CUL7,KLC4	c.2101C>A (p.Leu701Met) n.2384C>A c.2197C>A (p.Leu733Met) n.2400C>A c.50C>A n.2435C>A c.593C>A c.-553+4708G>T (n.-553+4708G>T) c.2353C>A (p.Leu785Met) c.2257C>A (p.Leu753Met) c.-82C>A (n.-82C>A) c.2380C>A (p.Leu794Met) c.2284C>A (p.Leu762Met) c.2224C>A (p.Leu742Met) c.2128C>A (p.Leu710Met)
6	g.43048217C>A	CA450261588	CUL7,KLC4	c.2100G>T (p.Leu700=) n.2383G>T c.2196G>T (p.Leu732=) n.2399G>T c.49G>T n.2434G>T c.592G>T c.-553+4709C>A (n.-553+4709C>A) c.2352G>T (p.Leu784=) c.2256G>T (p.Leu752=) c.-83G>T (n.-83G>T) c.2379G>T (p.Leu793=) c.2283G>T (p.Leu761=) c.2223G>T (p.Leu741=) c.2127G>T (p.Leu709=)
6	g.43048217C>G	CA450261589	CUL7,KLC4	c.2100G>C (p.Leu700=) n.2383G>C c.2196G>C (p.Leu732=) n.2399G>C c.49G>C n.2434G>C c.592G>C c.-553+4709C>G (n.-553+4709C>G) c.2352G>C (p.Leu784=) c.2256G>C (p.Leu752=) c.-83G>C (n.-83G>C) c.2379G>C (p.Leu793=) c.2283G>C (p.Leu761=) c.2223G>C (p.Leu741=) c.2127G>C (p.Leu709=)
6	g.43048217C>T	CA450261590	CUL7,KLC4	c.2100G>A (p.Leu700=) n.2383G>A c.2196G>A (p.Leu732=) n.2399G>A c.49G>A n.2434G>A c.592G>A c.-553+4709C>T (n.-553+4709C>T) c.2352G>A (p.Leu784=) c.2256G>A (p.Leu752=) c.-83G>A (n.-83G>A) c.2379G>A (p.Leu793=) c.2283G>A (p.Leu761=) c.2223G>A (p.Leu741=) c.2127G>A (p.Leu709=)	COSMIC COSMIC
6	g.43048218A>C	CA364218496	CUL7,KLC4	c.2099T>G (p.Leu700Arg) n.2382T>G c.2195T>G (p.Leu732Arg) n.2398T>G c.48T>G n.2433T>G c.591T>G c.-553+4710A>C (n.-553+4710A>C) c.2351T>G (p.Leu784Arg) c.2255T>G (p.Leu752Arg) c.-84T>G (n.-84T>G) c.2378T>G (p.Leu793Arg) c.2282T>G (p.Leu761Arg) c.2222T>G (p.Leu741Arg) c.2126T>G (p.Leu709Arg)
6	g.43048218A>G	CA364218499	CUL7,KLC4	c.2099T>C (p.Leu700Pro) n.2382T>C c.2195T>C (p.Leu732Pro) n.2398T>C c.48T>C n.2433T>C c.591T>C c.-553+4710A>G (n.-553+4710A>G) c.2351T>C (p.Leu784Pro) c.2255T>C (p.Leu752Pro) c.-84T>C (n.-84T>C) c.2378T>C (p.Leu793Pro) c.2282T>C (p.Leu761Pro) c.2222T>C (p.Leu741Pro) c.2126T>C (p.Leu709Pro)	gnomAD v4
6	g.43048218A>T	CA364218500	CUL7,KLC4	c.2099T>A (p.Leu700Gln) n.2382T>A c.2195T>A (p.Leu732Gln) n.2398T>A c.48T>A n.2433T>A c.591T>A c.-553+4710A>T (n.-553+4710A>T) c.2351T>A (p.Leu784Gln) c.2255T>A (p.Leu752Gln) c.-84T>A (n.-84T>A) c.2378T>A (p.Leu793Gln) c.2282T>A (p.Leu761Gln) c.2222T>A (p.Leu741Gln) c.2126T>A (p.Leu709Gln)
6	g.43048219G>A	CA450261595	CUL7,KLC4	c.2098C>T (p.Leu700=) n.2381C>T c.2194C>T (p.Leu732=) n.2397C>T c.47C>T n.2432C>T c.590C>T c.-553+4711G>A (n.-553+4711G>A) c.2350C>T (p.Leu784=) c.2254C>T (p.Leu752=) c.-85C>T (n.-85C>T) c.2377C>T (p.Leu793=) c.2281C>T (p.Leu761=) c.2221C>T (p.Leu741=) c.2125C>T (p.Leu709=)	gnomAD v4
6	g.43048219G>C	CA364218504	CUL7,KLC4	c.2098C>G (p.Leu700Val) n.2381C>G c.2194C>G (p.Leu732Val) n.2397C>G c.47C>G n.2432C>G c.590C>G c.-553+4711G>C (n.-553+4711G>C) c.2350C>G (p.Leu784Val) c.2254C>G (p.Leu752Val) c.-85C>G (n.-85C>G) c.2377C>G (p.Leu793Val) c.2281C>G (p.Leu761Val) c.2221C>G (p.Leu741Val) c.2125C>G (p.Leu709Val)
6	g.43048219G>T	CA364218506	CUL7,KLC4	c.2098C>A (p.Leu700Met) n.2381C>A c.2194C>A (p.Leu732Met) n.2397C>A c.47C>A n.2432C>A c.590C>A c.-553+4711G>T (n.-553+4711G>T) c.2350C>A (p.Leu784Met) c.2254C>A (p.Leu752Met) c.-85C>A (n.-85C>A) c.2377C>A (p.Leu793Met) c.2281C>A (p.Leu761Met) c.2221C>A (p.Leu741Met) c.2125C>A (p.Leu709Met)
6	g.43048220T>A	CA450261600	CUL7,KLC4	c.2097A>T (p.Ala699=) n.2380A>T c.2193A>T (p.Ala731=) n.2396A>T c.46A>T n.2431A>T c.589A>T c.-553+4712T>A (n.-553+4712T>A) c.2349A>T (p.Ala783=) c.2253A>T (p.Ala751=) c.-86A>T (n.-86A>T) c.2376A>T (p.Ala792=) c.2280A>T (p.Ala760=) c.2220A>T (p.Ala740=) c.2124A>T (p.Ala708=)
6	g.43048220T>C	CA450261601	CUL7,KLC4	c.2097A>G (p.Ala699=) n.2380A>G c.2193A>G (p.Ala731=) n.2396A>G c.46A>G n.2431A>G c.589A>G c.-553+4712T>C (n.-553+4712T>C) c.2349A>G (p.Ala783=) c.2253A>G (p.Ala751=) c.-86A>G (n.-86A>G) c.2376A>G (p.Ala792=) c.2280A>G (p.Ala760=) c.2220A>G (p.Ala740=) c.2124A>G (p.Ala708=)	dbSNP gnomAD v4
6	g.43048220T>G	CA450261603	CUL7,KLC4	c.2097A>C (p.Ala699=) n.2380A>C c.2193A>C (p.Ala731=) n.2396A>C c.46A>C n.2431A>C c.589A>C c.-553+4712T>G (n.-553+4712T>G) c.2349A>C (p.Ala783=) c.2253A>C (p.Ala751=) c.-86A>C (n.-86A>C) c.2376A>C (p.Ala792=) c.2280A>C (p.Ala760=) c.2220A>C (p.Ala740=) c.2124A>C (p.Ala708=)
6	g.43048220T=	CA1624357259	CUL7,KLC4	c.2097A= (p.Ala699=) n.2380A= c.2193A= (p.Ala731=) n.2396A= c.46A= n.2431A= c.589A= c.-553+4712T= (n.-553+4712T=) c.2349A= (p.Ala783=) c.2253A= (p.Ala751=) c.-86A= (n.-86A=) c.2376A= (p.Ala792=) c.2280A= (p.Ala760=) c.2220A= (p.Ala740=) c.2124A= (p.Ala708=)
6	g.43048221G>A	CA364218508	CUL7,KLC4	c.2096C>T (p.Ala699Val) n.2379C>T c.2192C>T (p.Ala731Val) n.2395C>T c.45C>T n.2430C>T c.588C>T c.-553+4713G>A (n.-553+4713G>A) c.2348C>T (p.Ala783Val) c.2252C>T (p.Ala751Val) c.-87C>T (n.-87C>T) c.2375C>T (p.Ala792Val) c.2279C>T (p.Ala760Val) c.2219C>T (p.Ala740Val) c.2123C>T (p.Ala708Val)
6	g.43048221G>C	CA364218510	CUL7,KLC4	c.2096C>G (p.Ala699Gly) n.2379C>G c.2192C>G (p.Ala731Gly) n.2395C>G c.45C>G n.2430C>G c.588C>G c.-553+4713G>C (n.-553+4713G>C) c.2348C>G (p.Ala783Gly) c.2252C>G (p.Ala751Gly) c.-87C>G (n.-87C>G) c.2375C>G (p.Ala792Gly) c.2279C>G (p.Ala760Gly) c.2219C>G (p.Ala740Gly) c.2123C>G (p.Ala708Gly)
6	g.43048221G>T	CA364218514	CUL7,KLC4	c.2096C>A (p.Ala699Glu) n.2379C>A c.2192C>A (p.Ala731Glu) n.2395C>A c.45C>A n.2430C>A c.588C>A c.-553+4713G>T (n.-553+4713G>T) c.2348C>A (p.Ala783Glu) c.2252C>A (p.Ala751Glu) c.-87C>A (n.-87C>A) c.2375C>A (p.Ala792Glu) c.2279C>A (p.Ala760Glu) c.2219C>A (p.Ala740Glu) c.2123C>A (p.Ala708Glu)
6	g.43048222C>A	CA364218519	CUL7,KLC4	c.2095G>T (p.Ala699Ser) n.2378G>T c.2191G>T (p.Ala731Ser) n.2394G>T c.44G>T n.2429G>T c.587G>T c.-553+4714C>A (n.-553+4714C>A) c.2347G>T (p.Ala783Ser) c.2251G>T (p.Ala751Ser) c.-88G>T (n.-88G>T) c.2374G>T (p.Ala792Ser) c.2278G>T (p.Ala760Ser) c.2218G>T (p.Ala740Ser) c.2122G>T (p.Ala708Ser)	gnomAD v4
6	g.43048222C>G	CA364218520	CUL7,KLC4	c.2095G>C (p.Ala699Pro) n.2378G>C c.2191G>C (p.Ala731Pro) n.2394G>C c.44G>C n.2429G>C c.587G>C c.-553+4714C>G (n.-553+4714C>G) c.2347G>C (p.Ala783Pro) c.2251G>C (p.Ala751Pro) c.-88G>C (n.-88G>C) c.2374G>C (p.Ala792Pro) c.2278G>C (p.Ala760Pro) c.2218G>C (p.Ala740Pro) c.2122G>C (p.Ala708Pro)
6	g.43048222C>T	CA364218522	CUL7,KLC4	c.2095G>A (p.Ala699Thr) n.2378G>A c.2191G>A (p.Ala731Thr) n.2394G>A c.44G>A n.2429G>A c.587G>A c.-553+4714C>T (n.-553+4714C>T) c.2347G>A (p.Ala783Thr) c.2251G>A (p.Ala751Thr) c.-88G>A (n.-88G>A) c.2374G>A (p.Ala792Thr) c.2278G>A (p.Ala760Thr) c.2218G>A (p.Ala740Thr) c.2122G>A (p.Ala708Thr)
6	g.43048223C>A	CA364218526	CUL7,KLC4	c.2094G>T (p.Glu698Asp) n.2377G>T c.2190G>T (p.Glu730Asp) n.2393G>T c.43G>T n.2428G>T c.586G>T c.-553+4715C>A (n.-553+4715C>A) c.2346G>T (p.Glu782Asp) c.2250G>T (p.Glu750Asp) c.-89G>T (n.-89G>T) c.2373G>T (p.Glu791Asp) c.2277G>T (p.Glu759Asp) c.2217G>T (p.Glu739Asp) c.2121G>T (p.Glu707Asp)
6	g.43048223C>G	CA364218529	CUL7,KLC4	c.2094G>C (p.Glu698Asp) n.2377G>C c.2190G>C (p.Glu730Asp) n.2393G>C c.43G>C n.2428G>C c.586G>C c.-553+4715C>G (n.-553+4715C>G) c.2346G>C (p.Glu782Asp) c.2250G>C (p.Glu750Asp) c.-89G>C (n.-89G>C) c.2373G>C (p.Glu791Asp) c.2277G>C (p.Glu759Asp) c.2217G>C (p.Glu739Asp) c.2121G>C (p.Glu707Asp)
6	g.43048223C>T	CA450261605	CUL7,KLC4	c.2094G>A (p.Glu698=) n.2377G>A c.2190G>A (p.Glu730=) n.2393G>A c.43G>A n.2428G>A c.586G>A c.-553+4715C>T (n.-553+4715C>T) c.2346G>A (p.Glu782=) c.2250G>A (p.Glu750=) c.-89G>A (n.-89G>A) c.2373G>A (p.Glu791=) c.2277G>A (p.Glu759=) c.2217G>A (p.Glu739=) c.2121G>A (p.Glu707=)
6	g.43048224T>A	CA364218536	CUL7,KLC4	c.2093A>T (p.Glu698Val) n.2376A>T c.2189A>T (p.Glu730Val) n.2392A>T c.42A>T n.2427A>T c.585A>T c.-553+4716T>A (n.-553+4716T>A) c.2345A>T (p.Glu782Val) c.2249A>T (p.Glu750Val) c.-90A>T (n.-90A>T) c.2372A>T (p.Glu791Val) c.2276A>T (p.Glu759Val) c.2216A>T (p.Glu739Val) c.2120A>T (p.Glu707Val)
6	g.43048224T>C	CA364218538	CUL7,KLC4	c.2093A>G (p.Glu698Gly) n.2376A>G c.2189A>G (p.Glu730Gly) n.2392A>G c.42A>G n.2427A>G c.585A>G c.-553+4716T>C (n.-553+4716T>C) c.2345A>G (p.Glu782Gly) c.2249A>G (p.Glu750Gly) c.-90A>G (n.-90A>G) c.2372A>G (p.Glu791Gly) c.2276A>G (p.Glu759Gly) c.2216A>G (p.Glu739Gly) c.2120A>G (p.Glu707Gly)
6	g.43048224T>G	CA364218533	CUL7,KLC4	c.2093A>C (p.Glu698Ala) n.2376A>C c.2189A>C (p.Glu730Ala) n.2392A>C c.42A>C n.2427A>C c.585A>C c.-553+4716T>G (n.-553+4716T>G) c.2345A>C (p.Glu782Ala) c.2249A>C (p.Glu750Ala) c.-90A>C (n.-90A>C) c.2372A>C (p.Glu791Ala) c.2276A>C (p.Glu759Ala) c.2216A>C (p.Glu739Ala) c.2120A>C (p.Glu707Ala)
6	g.43048225C>A	CA364218548	CUL7,KLC4	c.2092G>T (p.Glu698Ter) n.2375G>T c.2188G>T (p.Glu730Ter) n.2391G>T c.41G>T n.2426G>T c.584G>T c.-553+4717C>A (n.-553+4717C>A) c.2344G>T (p.Glu782Ter) c.2248G>T (p.Glu750Ter) c.-91G>T (n.-91G>T) c.2371G>T (p.Glu791Ter) c.2275G>T (p.Glu759Ter) c.2215G>T (p.Glu739Ter) c.2119G>T (p.Glu707Ter)
6	g.43048225C=	CA1624357261	CUL7,KLC4	c.2092G= (p.Glu698=) n.2375G= c.2188G= (p.Glu730=) n.2391G= c.41G= n.2426G= c.584G= c.-553+4717C= (n.-553+4717C=) c.2344G= (p.Glu782=) c.2248G= (p.Glu750=) c.-91G= (n.-91G=) c.2371G= (p.Glu791=) c.2275G= (p.Glu759=) c.2215G= (p.Glu739=) c.2119G= (p.Glu707=)
6	g.43048225C>G	CA364218550	CUL7,KLC4	c.2092G>C (p.Glu698Gln) n.2375G>C c.2188G>C (p.Glu730Gln) n.2391G>C c.41G>C n.2426G>C c.584G>C c.-553+4717C>G (n.-553+4717C>G) c.2344G>C (p.Glu782Gln) c.2248G>C (p.Glu750Gln) c.-91G>C (n.-91G>C) c.2371G>C (p.Glu791Gln) c.2275G>C (p.Glu759Gln) c.2215G>C (p.Glu739Gln) c.2119G>C (p.Glu707Gln)
6	g.43048225C>T	CA3813986	CUL7,KLC4	c.2092G>A (p.Glu698Lys) n.2375G>A c.2188G>A (p.Glu730Lys) n.2391G>A c.41G>A n.2426G>A c.584G>A c.-553+4717C>T (n.-553+4717C>T) c.2344G>A (p.Glu782Lys) c.2248G>A (p.Glu750Lys) c.-91G>A (n.-91G>A) c.2371G>A (p.Glu791Lys) c.2275G>A (p.Glu759Lys) c.2215G>A (p.Glu739Lys) c.2119G>A (p.Glu707Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048225_43048226delinsCG	CA1624357260	CUL7,KLC4	c.2091_2092delinsCG (p.Pro697=) n.2374_2375delinsCG c.2187_2188delinsCG (p.Pro729=) n.2390_2391delinsCG c.40_41delinsCG n.2425_2426delinsCG c.583_584delinsCG c.-553+4717_-553+4718delinsCG (n.-553+4717_-553+4718delinsCG) c.2343_2344delinsCG (p.Pro781=) c.2247_2248delinsCG (p.Pro749=) c.-92_-91delinsCG (n.-92_-91delinsCG) c.2370_2371delinsCG (p.Pro790=) c.2274_2275delinsCG (p.Pro758=) c.2214_2215delinsCG (p.Pro738=) c.2118_2119delinsCG (p.Pro706=)
6	g.43048226G>A	CA3813987	CUL7,KLC4	c.2091C>T (p.Pro697=) n.2374C>T c.2187C>T (p.Pro729=) n.2390C>T c.40C>T n.2425C>T c.583C>T c.-553+4718G>A (n.-553+4718G>A) c.2343C>T (p.Pro781=) c.2247C>T (p.Pro749=) c.-92C>T (n.-92C>T) c.2370C>T (p.Pro790=) c.2274C>T (p.Pro758=) c.2214C>T (p.Pro738=) c.2118C>T (p.Pro706=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048226G>C	CA450261609	CUL7,KLC4	c.2091C>G (p.Pro697=) n.2374C>G c.2187C>G (p.Pro729=) n.2390C>G c.40C>G n.2425C>G c.583C>G c.-553+4718G>C (n.-553+4718G>C) c.2343C>G (p.Pro781=) c.2247C>G (p.Pro749=) c.-92C>G (n.-92C>G) c.2370C>G (p.Pro790=) c.2274C>G (p.Pro758=) c.2214C>G (p.Pro738=) c.2118C>G (p.Pro706=)
6	g.43048226G=	CA1624357262	CUL7,KLC4	c.2091C= (p.Pro697=) n.2374C= c.2187C= (p.Pro729=) n.2390C= c.40C= n.2425C= c.583C= c.-553+4718G= (n.-553+4718G=) c.2343C= (p.Pro781=) c.2247C= (p.Pro749=) c.-92C= (n.-92C=) c.2370C= (p.Pro790=) c.2274C= (p.Pro758=) c.2214C= (p.Pro738=) c.2118C= (p.Pro706=)
6	g.43048226G>T	CA450261610	CUL7,KLC4	c.2091C>A (p.Pro697=) n.2374C>A c.2187C>A (p.Pro729=) n.2390C>A c.40C>A n.2425C>A c.583C>A c.-553+4718G>T (n.-553+4718G>T) c.2343C>A (p.Pro781=) c.2247C>A (p.Pro749=) c.-92C>A (n.-92C>A) c.2370C>A (p.Pro790=) c.2274C>A (p.Pro758=) c.2214C>A (p.Pro738=) c.2118C>A (p.Pro706=)
6	g.43048229del	CA1088349855	CUL7,KLC4	c.2091del (p.Glu698ArgfsTer?) n.2374del c.2187del (p.Glu730ArgfsTer27) n.2390del c.40del n.2425del c.2187del (p.Glu730ArgfsTer?) c.583del c.-553+4721del (n.-553+4721del) c.2343del (p.Glu782ArgfsTer?) c.2247del (p.Glu750ArgfsTer?) c.-92del (n.-92del) c.2370del (p.Glu791ArgfsTer?) c.2274del (p.Glu759ArgfsTer?) c.2214del (p.Glu739ArgfsTer?) c.2118del (p.Glu707ArgfsTer?)	dbSNP gnomAD v3 gnomAD v4
6	g.43048227G>A	CA364218553	CUL7,KLC4	c.2090C>T (p.Pro697Leu) n.2373C>T c.2186C>T (p.Pro729Leu) n.2389C>T c.39C>T n.2424C>T c.582C>T c.-553+4719G>A (n.-553+4719G>A) c.2342C>T (p.Pro781Leu) c.2246C>T (p.Pro749Leu) c.-93C>T (n.-93C>T) c.2369C>T (p.Pro790Leu) c.2273C>T (p.Pro758Leu) c.2213C>T (p.Pro738Leu) c.2117C>T (p.Pro706Leu)	gnomAD v4
6	g.43048227G>C	CA364218555	CUL7,KLC4	c.2090C>G (p.Pro697Arg) n.2373C>G c.2186C>G (p.Pro729Arg) n.2389C>G c.39C>G n.2424C>G c.582C>G c.-553+4719G>C (n.-553+4719G>C) c.2342C>G (p.Pro781Arg) c.2246C>G (p.Pro749Arg) c.-93C>G (n.-93C>G) c.2369C>G (p.Pro790Arg) c.2273C>G (p.Pro758Arg) c.2213C>G (p.Pro738Arg) c.2117C>G (p.Pro706Arg)
6	g.43048227G>T	CA364218557	CUL7,KLC4	c.2090C>A (p.Pro697His) n.2373C>A c.2186C>A (p.Pro729His) n.2389C>A c.39C>A n.2424C>A c.582C>A c.-553+4719G>T (n.-553+4719G>T) c.2342C>A (p.Pro781His) c.2246C>A (p.Pro749His) c.-93C>A (n.-93C>A) c.2369C>A (p.Pro790His) c.2273C>A (p.Pro758His) c.2213C>A (p.Pro738His) c.2117C>A (p.Pro706His)
6	g.43048228G>A	CA364218558	CUL7,KLC4	c.2089C>T (p.Pro697Ser) n.2372C>T c.2185C>T (p.Pro729Ser) n.2388C>T c.38C>T n.2423C>T c.581C>T c.-553+4720G>A (n.-553+4720G>A) c.2341C>T (p.Pro781Ser) c.2245C>T (p.Pro749Ser) c.-94C>T (n.-94C>T) c.2368C>T (p.Pro790Ser) c.2272C>T (p.Pro758Ser) c.2212C>T (p.Pro738Ser) c.2116C>T (p.Pro706Ser)
6	g.43048228G>C	CA364218560	CUL7,KLC4	c.2089C>G (p.Pro697Ala) n.2372C>G c.2185C>G (p.Pro729Ala) n.2388C>G c.38C>G n.2423C>G c.581C>G c.-553+4720G>C (n.-553+4720G>C) c.2341C>G (p.Pro781Ala) c.2245C>G (p.Pro749Ala) c.-94C>G (n.-94C>G) c.2368C>G (p.Pro790Ala) c.2272C>G (p.Pro758Ala) c.2212C>G (p.Pro738Ala) c.2116C>G (p.Pro706Ala)
6	g.43048228G>T	CA364218559	CUL7,KLC4	c.2089C>A (p.Pro697Thr) n.2372C>A c.2185C>A (p.Pro729Thr) n.2388C>A c.38C>A n.2423C>A c.581C>A c.-553+4720G>T (n.-553+4720G>T) c.2341C>A (p.Pro781Thr) c.2245C>A (p.Pro749Thr) c.-94C>A (n.-94C>A) c.2368C>A (p.Pro790Thr) c.2272C>A (p.Pro758Thr) c.2212C>A (p.Pro738Thr) c.2116C>A (p.Pro706Thr)
6	g.43048229G>A	CA450261617	CUL7,KLC4	c.2088C>T (p.Phe696=) n.2371C>T c.2184C>T (p.Phe728=) n.2387C>T c.37C>T n.2422C>T c.580C>T c.-553+4721G>A (n.-553+4721G>A) c.2340C>T (p.Phe780=) c.2244C>T (p.Phe748=) c.-95C>T (n.-95C>T) c.2367C>T (p.Phe789=) c.2271C>T (p.Phe757=) c.2211C>T (p.Phe737=) c.2115C>T (p.Phe705=)	dbSNP gnomAD v2 gnomAD v4
6	g.43048229G>C	CA364218563	CUL7,KLC4	c.2088C>G (p.Phe696Leu) n.2371C>G c.2184C>G (p.Phe728Leu) n.2387C>G c.37C>G n.2422C>G c.580C>G c.-553+4721G>C (n.-553+4721G>C) c.2340C>G (p.Phe780Leu) c.2244C>G (p.Phe748Leu) c.-95C>G (n.-95C>G) c.2367C>G (p.Phe789Leu) c.2271C>G (p.Phe757Leu) c.2211C>G (p.Phe737Leu) c.2115C>G (p.Phe705Leu)
6	g.43048229G=	CA1624357263	CUL7,KLC4	c.2088C= (p.Phe696=) n.2371C= c.2184C= (p.Phe728=) n.2387C= c.37C= n.2422C= c.580C= c.-553+4721G= (n.-553+4721G=) c.2340C= (p.Phe780=) c.2244C= (p.Phe748=) c.-95C= (n.-95C=) c.2367C= (p.Phe789=) c.2271C= (p.Phe757=) c.2211C= (p.Phe737=) c.2115C= (p.Phe705=)
6	g.43048229G>T	CA364218564	CUL7,KLC4	c.2088C>A (p.Phe696Leu) n.2371C>A c.2184C>A (p.Phe728Leu) n.2387C>A c.37C>A n.2422C>A c.580C>A c.-553+4721G>T (n.-553+4721G>T) c.2340C>A (p.Phe780Leu) c.2244C>A (p.Phe748Leu) c.-95C>A (n.-95C>A) c.2367C>A (p.Phe789Leu) c.2271C>A (p.Phe757Leu) c.2211C>A (p.Phe737Leu) c.2115C>A (p.Phe705Leu)
6	g.43048230A>C	CA364218567	CUL7,KLC4	c.2087T>G (p.Phe696Cys) n.2370T>G c.2183T>G (p.Phe728Cys) n.2386T>G c.36T>G n.2421T>G c.579T>G c.-553+4722A>C (n.-553+4722A>C) c.2339T>G (p.Phe780Cys) c.2243T>G (p.Phe748Cys) c.-96T>G (n.-96T>G) c.2366T>G (p.Phe789Cys) c.2270T>G (p.Phe757Cys) c.2210T>G (p.Phe737Cys) c.2114T>G (p.Phe705Cys)
6	g.43048230A>G	CA364218570	CUL7,KLC4	c.2087T>C (p.Phe696Ser) n.2370T>C c.2183T>C (p.Phe728Ser) n.2386T>C c.36T>C n.2421T>C c.579T>C c.-553+4722A>G (n.-553+4722A>G) c.2339T>C (p.Phe780Ser) c.2243T>C (p.Phe748Ser) c.-96T>C (n.-96T>C) c.2366T>C (p.Phe789Ser) c.2270T>C (p.Phe757Ser) c.2210T>C (p.Phe737Ser) c.2114T>C (p.Phe705Ser)
6	g.43048230A>T	CA364218572	CUL7,KLC4	c.2087T>A (p.Phe696Tyr) n.2370T>A c.2183T>A (p.Phe728Tyr) n.2386T>A c.36T>A n.2421T>A c.579T>A c.-553+4722A>T (n.-553+4722A>T) c.2339T>A (p.Phe780Tyr) c.2243T>A (p.Phe748Tyr) c.-96T>A (n.-96T>A) c.2366T>A (p.Phe789Tyr) c.2270T>A (p.Phe757Tyr) c.2210T>A (p.Phe737Tyr) c.2114T>A (p.Phe705Tyr)
6	g.43048231A>C	CA364218576	CUL7,KLC4	c.2086T>G (p.Phe696Val) n.2369T>G c.2182T>G (p.Phe728Val) n.2385T>G c.35T>G n.2420T>G c.578T>G c.-553+4723A>C (n.-553+4723A>C) c.2338T>G (p.Phe780Val) c.2242T>G (p.Phe748Val) c.-97T>G (n.-97T>G) c.2365T>G (p.Phe789Val) c.2269T>G (p.Phe757Val) c.2209T>G (p.Phe737Val) c.2113T>G (p.Phe705Val)
6	g.43048231A>G	CA364218581	CUL7,KLC4	c.2086T>C (p.Phe696Leu) n.2369T>C c.2182T>C (p.Phe728Leu) n.2385T>C c.35T>C n.2420T>C c.578T>C c.-553+4723A>G (n.-553+4723A>G) c.2338T>C (p.Phe780Leu) c.2242T>C (p.Phe748Leu) c.-97T>C (n.-97T>C) c.2365T>C (p.Phe789Leu) c.2269T>C (p.Phe757Leu) c.2209T>C (p.Phe737Leu) c.2113T>C (p.Phe705Leu)
6	g.43048231A>T	CA364218578	CUL7,KLC4	c.2086T>A (p.Phe696Ile) n.2369T>A c.2182T>A (p.Phe728Ile) n.2385T>A c.35T>A n.2420T>A c.578T>A c.-553+4723A>T (n.-553+4723A>T) c.2338T>A (p.Phe780Ile) c.2242T>A (p.Phe748Ile) c.-97T>A (n.-97T>A) c.2365T>A (p.Phe789Ile) c.2269T>A (p.Phe757Ile) c.2209T>A (p.Phe737Ile) c.2113T>A (p.Phe705Ile)
6	g.43048232G>A	CA450261620	CUL7,KLC4	c.2085C>T (p.Asp695=) n.2368C>T c.2181C>T (p.Asp727=) n.2384C>T c.34C>T n.2419C>T c.577C>T c.-553+4724G>A (n.-553+4724G>A) c.2337C>T (p.Asp779=) c.2241C>T (p.Asp747=) c.-98C>T (n.-98C>T) c.2364C>T (p.Asp788=) c.2268C>T (p.Asp756=) c.2208C>T (p.Asp736=) c.2112C>T (p.Asp704=)
6	g.43048232G>C	CA364218583	CUL7,KLC4	c.2085C>G (p.Asp695Glu) n.2368C>G c.2181C>G (p.Asp727Glu) n.2384C>G c.34C>G n.2419C>G c.577C>G c.-553+4724G>C (n.-553+4724G>C) c.2337C>G (p.Asp779Glu) c.2241C>G (p.Asp747Glu) c.-98C>G (n.-98C>G) c.2364C>G (p.Asp788Glu) c.2268C>G (p.Asp756Glu) c.2208C>G (p.Asp736Glu) c.2112C>G (p.Asp704Glu)
6	g.43048232G>T	CA364218586	CUL7,KLC4	c.2085C>A (p.Asp695Glu) n.2368C>A c.2181C>A (p.Asp727Glu) n.2384C>A c.34C>A n.2419C>A c.577C>A c.-553+4724G>T (n.-553+4724G>T) c.2337C>A (p.Asp779Glu) c.2241C>A (p.Asp747Glu) c.-98C>A (n.-98C>A) c.2364C>A (p.Asp788Glu) c.2268C>A (p.Asp756Glu) c.2208C>A (p.Asp736Glu) c.2112C>A (p.Asp704Glu)
6	g.43048233T>A	CA364218590	CUL7,KLC4	c.2084A>T (p.Asp695Val) n.2367A>T c.2180A>T (p.Asp727Val) n.2383A>T c.33A>T n.2418A>T c.576A>T c.-553+4725T>A (n.-553+4725T>A) c.2336A>T (p.Asp779Val) c.2240A>T (p.Asp747Val) c.-99A>T (n.-99A>T) c.2363A>T (p.Asp788Val) c.2267A>T (p.Asp756Val) c.2207A>T (p.Asp736Val) c.2111A>T (p.Asp704Val)
6	g.43048233T>C	CA3813989	CUL7,KLC4	c.2084A>G (p.Asp695Gly) n.2367A>G c.2180A>G (p.Asp727Gly) n.2383A>G c.33A>G n.2418A>G c.576A>G c.-553+4725T>C (n.-553+4725T>C) c.2336A>G (p.Asp779Gly) c.2240A>G (p.Asp747Gly) c.-99A>G (n.-99A>G) c.2363A>G (p.Asp788Gly) c.2267A>G (p.Asp756Gly) c.2207A>G (p.Asp736Gly) c.2111A>G (p.Asp704Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048233T>G	CA364218594	CUL7,KLC4	c.2084A>C (p.Asp695Ala) n.2367A>C c.2180A>C (p.Asp727Ala) n.2383A>C c.33A>C n.2418A>C c.576A>C c.-553+4725T>G (n.-553+4725T>G) c.2336A>C (p.Asp779Ala) c.2240A>C (p.Asp747Ala) c.-99A>C (n.-99A>C) c.2363A>C (p.Asp788Ala) c.2267A>C (p.Asp756Ala) c.2207A>C (p.Asp736Ala) c.2111A>C (p.Asp704Ala)
6	g.43048233T=	CA1624357265	CUL7,KLC4	c.2084A= (p.Asp695=) n.2367A= c.2180A= (p.Asp727=) n.2383A= c.33A= n.2418A= c.576A= c.-553+4725T= (n.-553+4725T=) c.2336A= (p.Asp779=) c.2240A= (p.Asp747=) c.-99A= (n.-99A=) c.2363A= (p.Asp788=) c.2267A= (p.Asp756=) c.2207A= (p.Asp736=) c.2111A= (p.Asp704=)
6	g.43048233_43048236delinsTCCA	CA1624357264	CUL7,KLC4	c.2081_2084delinsTGGA (p.Val694=) n.2364_2367delinsTGGA c.2177_2180delinsTGGA (p.Val726=) n.2380_2383delinsTGGA c.30_33delinsTGGA n.2415_2418delinsTGGA c.573_576delinsTGGA c.-553+4725_-553+4728delinsTCCA (n.-553+4725_-553+4728delinsTCCA) c.2333_2336delinsTGGA (p.Val778=) c.2237_2240delinsTGGA (p.Val746=) c.-102_-99delinsTGGA (n.-102_-99delinsTGGA) c.2360_2363delinsTGGA (p.Val787=) c.2264_2267delinsTGGA (p.Val755=) c.2204_2207delinsTGGA (p.Val735=) c.2108_2111delinsTGGA (p.Val703=)
6	g.43048234C>A	CA364218598	CUL7,KLC4	c.2083G>T (p.Asp695Tyr) n.2366G>T c.2179G>T (p.Asp727Tyr) n.2382G>T c.32G>T n.2417G>T c.575G>T c.-553+4726C>A (n.-553+4726C>A) c.2335G>T (p.Asp779Tyr) c.2239G>T (p.Asp747Tyr) c.-100G>T (n.-100G>T) c.2362G>T (p.Asp788Tyr) c.2266G>T (p.Asp756Tyr) c.2206G>T (p.Asp736Tyr) c.2110G>T (p.Asp704Tyr)
6	g.43048234C>G	CA364218600	CUL7,KLC4	c.2083G>C (p.Asp695His) n.2366G>C c.2179G>C (p.Asp727His) n.2382G>C c.32G>C n.2417G>C c.575G>C c.-553+4726C>G (n.-553+4726C>G) c.2335G>C (p.Asp779His) c.2239G>C (p.Asp747His) c.-100G>C (n.-100G>C) c.2362G>C (p.Asp788His) c.2266G>C (p.Asp756His) c.2206G>C (p.Asp736His) c.2110G>C (p.Asp704His)
6	g.43048234C>T	CA364218603	CUL7,KLC4	c.2083G>A (p.Asp695Asn) n.2366G>A c.2179G>A (p.Asp727Asn) n.2382G>A c.32G>A n.2417G>A c.575G>A c.-553+4726C>T (n.-553+4726C>T) c.2335G>A (p.Asp779Asn) c.2239G>A (p.Asp747Asn) c.-100G>A (n.-100G>A) c.2362G>A (p.Asp788Asn) c.2266G>A (p.Asp756Asn) c.2206G>A (p.Asp736Asn) c.2110G>A (p.Asp704Asn)
6	g.43048237_43048239del	CA3813988	CUL7,KLC4	c.2081_2083del (p.Val694del) n.2364_2366del c.2177_2179del (p.Val726del) n.2380_2382del c.30_32del n.2415_2417del c.573_575del c.-553+4729_-553+4731del (n.-553+4729_-553+4731del) c.2333_2335del (p.Val778del) c.2237_2239del (p.Val746del) c.-102_-100del (n.-102_-100del) c.2360_2362del (p.Val787del) c.2264_2266del (p.Val755del) c.2204_2206del (p.Val735del) c.2108_2110del (p.Val703del)	dbSNP ExAC gnomAD v2
6	g.43048235C>A	CA3813990	CUL7,KLC4	c.2082G>T (p.Val694=) n.2365G>T c.2178G>T (p.Val726=) n.2381G>T c.31G>T n.2416G>T c.574G>T c.-553+4727C>A (n.-553+4727C>A) c.2334G>T (p.Val778=) c.2238G>T (p.Val746=) c.-101G>T (n.-101G>T) c.2361G>T (p.Val787=) c.2265G>T (p.Val755=) c.2205G>T (p.Val735=) c.2109G>T (p.Val703=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048235C=	CA1624357266	CUL7,KLC4	c.2082G= (p.Val694=) n.2365G= c.2178G= (p.Val726=) n.2381G= c.31G= n.2416G= c.574G= c.-553+4727C= (n.-553+4727C=) c.2334G= (p.Val778=) c.2238G= (p.Val746=) c.-101G= (n.-101G=) c.2361G= (p.Val787=) c.2265G= (p.Val755=) c.2205G= (p.Val735=) c.2109G= (p.Val703=)
6	g.43048235C>G	CA450261624	CUL7,KLC4	c.2082G>C (p.Val694=) n.2365G>C c.2178G>C (p.Val726=) n.2381G>C c.31G>C n.2416G>C c.574G>C c.-553+4727C>G (n.-553+4727C>G) c.2334G>C (p.Val778=) c.2238G>C (p.Val746=) c.-101G>C (n.-101G>C) c.2361G>C (p.Val787=) c.2265G>C (p.Val755=) c.2205G>C (p.Val735=) c.2109G>C (p.Val703=)
6	g.43048235C>T	CA450261625	CUL7,KLC4	c.2082G>A (p.Val694=) n.2365G>A c.2178G>A (p.Val726=) n.2381G>A c.31G>A n.2416G>A c.574G>A c.-553+4727C>T (n.-553+4727C>T) c.2334G>A (p.Val778=) c.2238G>A (p.Val746=) c.-101G>A (n.-101G>A) c.2361G>A (p.Val787=) c.2265G>A (p.Val755=) c.2205G>A (p.Val735=) c.2109G>A (p.Val703=)	gnomAD v4
6	g.43048236A>C	CA364218608	CUL7,KLC4	c.2081T>G (p.Val694Gly) n.2364T>G c.2177T>G (p.Val726Gly) n.2380T>G c.30T>G n.2415T>G c.573T>G c.-553+4728A>C (n.-553+4728A>C) c.2333T>G (p.Val778Gly) c.2237T>G (p.Val746Gly) c.-102T>G (n.-102T>G) c.2360T>G (p.Val787Gly) c.2264T>G (p.Val755Gly) c.2204T>G (p.Val735Gly) c.2108T>G (p.Val703Gly)
6	g.43048236A>G	CA364218610	CUL7,KLC4	c.2081T>C (p.Val694Ala) n.2364T>C c.2177T>C (p.Val726Ala) n.2380T>C c.30T>C n.2415T>C c.573T>C c.-553+4728A>G (n.-553+4728A>G) c.2333T>C (p.Val778Ala) c.2237T>C (p.Val746Ala) c.-102T>C (n.-102T>C) c.2360T>C (p.Val787Ala) c.2264T>C (p.Val755Ala) c.2204T>C (p.Val735Ala) c.2108T>C (p.Val703Ala)
6	g.43048236A>T	CA364218612	CUL7,KLC4	c.2081T>A (p.Val694Glu) n.2364T>A c.2177T>A (p.Val726Glu) n.2380T>A c.30T>A n.2415T>A c.573T>A c.-553+4728A>T (n.-553+4728A>T) c.2333T>A (p.Val778Glu) c.2237T>A (p.Val746Glu) c.-102T>A (n.-102T>A) c.2360T>A (p.Val787Glu) c.2264T>A (p.Val755Glu) c.2204T>A (p.Val735Glu) c.2108T>A (p.Val703Glu)
6	g.43048237C>A	CA364218615	CUL7,KLC4	c.2080G>T (p.Val694Leu) n.2363G>T c.2176G>T (p.Val726Leu) n.2379G>T c.29G>T n.2414G>T c.572G>T c.-553+4729C>A (n.-553+4729C>A) c.2332G>T (p.Val778Leu) c.2236G>T (p.Val746Leu) c.-103G>T (n.-103G>T) c.2359G>T (p.Val787Leu) c.2263G>T (p.Val755Leu) c.2203G>T (p.Val735Leu) c.2107G>T (p.Val703Leu)
6	g.43048237C>G	CA364218619	CUL7,KLC4	c.2080G>C (p.Val694Leu) n.2363G>C c.2176G>C (p.Val726Leu) n.2379G>C c.29G>C n.2414G>C c.572G>C c.-553+4729C>G (n.-553+4729C>G) c.2332G>C (p.Val778Leu) c.2236G>C (p.Val746Leu) c.-103G>C (n.-103G>C) c.2359G>C (p.Val787Leu) c.2263G>C (p.Val755Leu) c.2203G>C (p.Val735Leu) c.2107G>C (p.Val703Leu)
6	g.43048237C>T	CA364218618	CUL7,KLC4	c.2080G>A (p.Val694Met) n.2363G>A c.2176G>A (p.Val726Met) n.2379G>A c.29G>A n.2414G>A c.572G>A c.-553+4729C>T (n.-553+4729C>T) c.2332G>A (p.Val778Met) c.2236G>A (p.Val746Met) c.-103G>A (n.-103G>A) c.2359G>A (p.Val787Met) c.2263G>A (p.Val755Met) c.2203G>A (p.Val735Met) c.2107G>A (p.Val703Met)	gnomAD v4
6	g.43048238C>A	CA450261629	CUL7,KLC4	c.2079G>T (p.Leu693=) n.2362G>T c.2175G>T (p.Leu725=) n.2378G>T c.28G>T n.2413G>T c.571G>T c.-553+4730C>A (n.-553+4730C>A) c.2331G>T (p.Leu777=) c.2235G>T (p.Leu745=) c.-104G>T (n.-104G>T) c.2358G>T (p.Leu786=) c.2262G>T (p.Leu754=) c.2202G>T (p.Leu734=) c.2106G>T (p.Leu702=)
6	g.43048238C>G	CA450261630	CUL7,KLC4	c.2079G>C (p.Leu693=) n.2362G>C c.2175G>C (p.Leu725=) n.2378G>C c.28G>C n.2413G>C c.571G>C c.-553+4730C>G (n.-553+4730C>G) c.2331G>C (p.Leu777=) c.2235G>C (p.Leu745=) c.-104G>C (n.-104G>C) c.2358G>C (p.Leu786=) c.2262G>C (p.Leu754=) c.2202G>C (p.Leu734=) c.2106G>C (p.Leu702=)
6	g.43048238C>T	CA450261631	CUL7,KLC4	c.2079G>A (p.Leu693=) n.2362G>A c.2175G>A (p.Leu725=) n.2378G>A c.28G>A n.2413G>A c.571G>A c.-553+4730C>T (n.-553+4730C>T) c.2331G>A (p.Leu777=) c.2235G>A (p.Leu745=) c.-104G>A (n.-104G>A) c.2358G>A (p.Leu786=) c.2262G>A (p.Leu754=) c.2202G>A (p.Leu734=) c.2106G>A (p.Leu702=)
6	g.43048239A>C	CA364218623	CUL7,KLC4	c.2078T>G (p.Leu693Arg) n.2361T>G c.2174T>G (p.Leu725Arg) n.2377T>G c.27T>G n.2412T>G c.570T>G c.-553+4731A>C (n.-553+4731A>C) c.2330T>G (p.Leu777Arg) c.2234T>G (p.Leu745Arg) c.-105T>G (n.-105T>G) c.2357T>G (p.Leu786Arg) c.2261T>G (p.Leu754Arg) c.2201T>G (p.Leu734Arg) c.2105T>G (p.Leu702Arg)
6	g.43048239A>G	CA364218624	CUL7,KLC4	c.2078T>C (p.Leu693Pro) n.2361T>C c.2174T>C (p.Leu725Pro) n.2377T>C c.27T>C n.2412T>C c.570T>C c.-553+4731A>G (n.-553+4731A>G) c.2330T>C (p.Leu777Pro) c.2234T>C (p.Leu745Pro) c.-105T>C (n.-105T>C) c.2357T>C (p.Leu786Pro) c.2261T>C (p.Leu754Pro) c.2201T>C (p.Leu734Pro) c.2105T>C (p.Leu702Pro)	gnomAD v4
6	g.43048239A>T	CA364218625	CUL7,KLC4	c.2078T>A (p.Leu693Gln) n.2361T>A c.2174T>A (p.Leu725Gln) n.2377T>A c.27T>A n.2412T>A c.570T>A c.-553+4731A>T (n.-553+4731A>T) c.2330T>A (p.Leu777Gln) c.2234T>A (p.Leu745Gln) c.-105T>A (n.-105T>A) c.2357T>A (p.Leu786Gln) c.2261T>A (p.Leu754Gln) c.2201T>A (p.Leu734Gln) c.2105T>A (p.Leu702Gln)
6	g.43048240G>A	CA450261632	CUL7,KLC4	c.2077C>T (p.Leu693=) n.2360C>T c.2173C>T (p.Leu725=) n.2376C>T c.26C>T n.2411C>T c.569C>T c.-553+4732G>A (n.-553+4732G>A) c.2329C>T (p.Leu777=) c.2233C>T (p.Leu745=) c.-106C>T (n.-106C>T) c.2356C>T (p.Leu786=) c.2260C>T (p.Leu754=) c.2200C>T (p.Leu734=) c.2104C>T (p.Leu702=)
6	g.43048240G>C	CA364218627	CUL7,KLC4	c.2077C>G (p.Leu693Val) n.2360C>G c.2173C>G (p.Leu725Val) n.2376C>G c.26C>G n.2411C>G c.569C>G c.-553+4732G>C (n.-553+4732G>C) c.2329C>G (p.Leu777Val) c.2233C>G (p.Leu745Val) c.-106C>G (n.-106C>G) c.2356C>G (p.Leu786Val) c.2260C>G (p.Leu754Val) c.2200C>G (p.Leu734Val) c.2104C>G (p.Leu702Val)
6	g.43048240G>T	CA364218628	CUL7,KLC4	c.2077C>A (p.Leu693Met) n.2360C>A c.2173C>A (p.Leu725Met) n.2376C>A c.26C>A n.2411C>A c.569C>A c.-553+4732G>T (n.-553+4732G>T) c.2329C>A (p.Leu777Met) c.2233C>A (p.Leu745Met) c.-106C>A (n.-106C>A) c.2356C>A (p.Leu786Met) c.2260C>A (p.Leu754Met) c.2200C>A (p.Leu734Met) c.2104C>A (p.Leu702Met)
6	g.43048241C>A	CA364218629	CUL7,KLC4	c.2076G>T (p.Gln692His) n.2359G>T c.2172G>T (p.Gln724His) n.2375G>T c.25G>T n.2410G>T c.568G>T c.-553+4733C>A (n.-553+4733C>A) c.2328G>T (p.Gln776His) c.2232G>T (p.Gln744His) c.-107G>T (n.-107G>T) c.2355G>T (p.Gln785His) c.2259G>T (p.Gln753His) c.2199G>T (p.Gln733His) c.2103G>T (p.Gln701His)
6	g.43048241C=	CA1624357267	CUL7,KLC4	c.2076G= (p.Gln692=) n.2359G= c.2172G= (p.Gln724=) n.2375G= c.25G= n.2410G= c.568G= c.-553+4733C= (n.-553+4733C=) c.2328G= (p.Gln776=) c.2232G= (p.Gln744=) c.-107G= (n.-107G=) c.2355G= (p.Gln785=) c.2259G= (p.Gln753=) c.2199G= (p.Gln733=) c.2103G= (p.Gln701=)
6	g.43048241C>G	CA364218631	CUL7,KLC4	c.2076G>C (p.Gln692His) n.2359G>C c.2172G>C (p.Gln724His) n.2375G>C c.25G>C n.2410G>C c.568G>C c.-553+4733C>G (n.-553+4733C>G) c.2328G>C (p.Gln776His) c.2232G>C (p.Gln744His) c.-107G>C (n.-107G>C) c.2355G>C (p.Gln785His) c.2259G>C (p.Gln753His) c.2199G>C (p.Gln733His) c.2103G>C (p.Gln701His)
6	g.43048241C>T	CA450261633	CUL7,KLC4	c.2076G>A (p.Gln692=) n.2359G>A c.2172G>A (p.Gln724=) n.2375G>A c.25G>A n.2410G>A c.568G>A c.-553+4733C>T (n.-553+4733C>T) c.2328G>A (p.Gln776=) c.2232G>A (p.Gln744=) c.-107G>A (n.-107G>A) c.2355G>A (p.Gln785=) c.2259G>A (p.Gln753=) c.2199G>A (p.Gln733=) c.2103G>A (p.Gln701=)	dbSNP gnomAD v2 gnomAD v4
6	g.43048242T>A	CA364218633	CUL7,KLC4	c.2075A>T (p.Gln692Leu) n.2358A>T c.2171A>T (p.Gln724Leu) n.2374A>T c.24A>T n.2409A>T c.567A>T c.-553+4734T>A (n.-553+4734T>A) c.2327A>T (p.Gln776Leu) c.2231A>T (p.Gln744Leu) c.-108A>T (n.-108A>T) c.2354A>T (p.Gln785Leu) c.2258A>T (p.Gln753Leu) c.2198A>T (p.Gln733Leu) c.2102A>T (p.Gln701Leu)
6	g.43048242T>C	CA364218635	CUL7,KLC4	c.2075A>G (p.Gln692Arg) n.2358A>G c.2171A>G (p.Gln724Arg) n.2374A>G c.24A>G n.2409A>G c.567A>G c.-553+4734T>C (n.-553+4734T>C) c.2327A>G (p.Gln776Arg) c.2231A>G (p.Gln744Arg) c.-108A>G (n.-108A>G) c.2354A>G (p.Gln785Arg) c.2258A>G (p.Gln753Arg) c.2198A>G (p.Gln733Arg) c.2102A>G (p.Gln701Arg)	gnomAD v4
6	g.43048242T>G	CA364218638	CUL7,KLC4	c.2075A>C (p.Gln692Pro) n.2358A>C c.2171A>C (p.Gln724Pro) n.2374A>C c.24A>C n.2409A>C c.567A>C c.-553+4734T>G (n.-553+4734T>G) c.2327A>C (p.Gln776Pro) c.2231A>C (p.Gln744Pro) c.-108A>C (n.-108A>C) c.2354A>C (p.Gln785Pro) c.2258A>C (p.Gln753Pro) c.2198A>C (p.Gln733Pro) c.2102A>C (p.Gln701Pro)
6	g.43048243G>A	CA364218642	CUL7,KLC4	c.2074C>T (p.Gln692Ter) n.2357C>T c.2170C>T (p.Gln724Ter) n.2373C>T c.23C>T n.2408C>T c.566C>T c.-553+4735G>A (n.-553+4735G>A) c.2326C>T (p.Gln776Ter) c.2230C>T (p.Gln744Ter) c.-109C>T (n.-109C>T) c.2353C>T (p.Gln785Ter) c.2257C>T (p.Gln753Ter) c.2197C>T (p.Gln733Ter) c.2101C>T (p.Gln701Ter)	ClinVar dbSNP
6	g.43048243G>C	CA364218644	CUL7,KLC4	c.2074C>G (p.Gln692Glu) n.2357C>G c.2170C>G (p.Gln724Glu) n.2373C>G c.23C>G n.2408C>G c.566C>G c.-553+4735G>C (n.-553+4735G>C) c.2326C>G (p.Gln776Glu) c.2230C>G (p.Gln744Glu) c.-109C>G (n.-109C>G) c.2353C>G (p.Gln785Glu) c.2257C>G (p.Gln753Glu) c.2197C>G (p.Gln733Glu) c.2101C>G (p.Gln701Glu)
6	g.43048243G>T	CA364218647	CUL7,KLC4	c.2074C>A (p.Gln692Lys) n.2357C>A c.2170C>A (p.Gln724Lys) n.2373C>A c.23C>A n.2408C>A c.566C>A c.-553+4735G>T (n.-553+4735G>T) c.2326C>A (p.Gln776Lys) c.2230C>A (p.Gln744Lys) c.-109C>A (n.-109C>A) c.2353C>A (p.Gln785Lys) c.2257C>A (p.Gln753Lys) c.2197C>A (p.Gln733Lys) c.2101C>A (p.Gln701Lys)
6	g.43048244C>A	CA364218652	CUL7,KLC4	c.2073G>T (p.Lys691Asn) n.2356G>T c.2169G>T (p.Lys723Asn) n.2372G>T c.22G>T n.2407G>T c.565G>T c.-553+4736C>A (n.-553+4736C>A) c.2325G>T (p.Lys775Asn) c.2229G>T (p.Lys743Asn) c.-110G>T (n.-110G>T) c.2352G>T (p.Lys784Asn) c.2256G>T (p.Lys752Asn) c.2196G>T (p.Lys732Asn) c.2100G>T (p.Lys700Asn)
6	g.43048244C=	CA1624357268	CUL7,KLC4	c.2073G= (p.Lys691=) n.2356G= c.2169G= (p.Lys723=) n.2372G= c.22G= n.2407G= c.565G= c.-553+4736C= (n.-553+4736C=) c.2325G= (p.Lys775=) c.2229G= (p.Lys743=) c.-110G= (n.-110G=) c.2352G= (p.Lys784=) c.2256G= (p.Lys752=) c.2196G= (p.Lys732=) c.2100G= (p.Lys700=)
6	g.43048244C>G	CA364218650	CUL7,KLC4	c.2073G>C (p.Lys691Asn) n.2356G>C c.2169G>C (p.Lys723Asn) n.2372G>C c.22G>C n.2407G>C c.565G>C c.-553+4736C>G (n.-553+4736C>G) c.2325G>C (p.Lys775Asn) c.2229G>C (p.Lys743Asn) c.-110G>C (n.-110G>C) c.2352G>C (p.Lys784Asn) c.2256G>C (p.Lys752Asn) c.2196G>C (p.Lys732Asn) c.2100G>C (p.Lys700Asn)
6	g.43048244C>T	CA138249131	CUL7,KLC4	c.2073G>A (p.Lys691=) n.2356G>A c.2169G>A (p.Lys723=) n.2372G>A c.22G>A n.2407G>A c.565G>A c.-553+4736C>T (n.-553+4736C>T) c.2325G>A (p.Lys775=) c.2229G>A (p.Lys743=) c.-110G>A (n.-110G>A) c.2352G>A (p.Lys784=) c.2256G>A (p.Lys752=) c.2196G>A (p.Lys732=) c.2100G>A (p.Lys700=)	dbSNP gnomAD v4
6	g.43048245T>A	CA364218655	CUL7,KLC4	c.2072A>T (p.Lys691Met) n.2355A>T c.2168A>T (p.Lys723Met) n.2371A>T c.21A>T n.2406A>T c.564A>T c.-553+4737T>A (n.-553+4737T>A) c.2324A>T (p.Lys775Met) c.2228A>T (p.Lys743Met) c.-111A>T (n.-111A>T) c.2351A>T (p.Lys784Met) c.2255A>T (p.Lys752Met) c.2195A>T (p.Lys732Met) c.2099A>T (p.Lys700Met)
6	g.43048245T>C	CA364218657	CUL7,KLC4	c.2072A>G (p.Lys691Arg) n.2355A>G c.2168A>G (p.Lys723Arg) n.2371A>G c.21A>G n.2406A>G c.564A>G c.-553+4737T>C (n.-553+4737T>C) c.2324A>G (p.Lys775Arg) c.2228A>G (p.Lys743Arg) c.-111A>G (n.-111A>G) c.2351A>G (p.Lys784Arg) c.2255A>G (p.Lys752Arg) c.2195A>G (p.Lys732Arg) c.2099A>G (p.Lys700Arg)	dbSNP gnomAD v2 gnomAD v4
6	g.43048245T>G	CA364218659	CUL7,KLC4	c.2072A>C (p.Lys691Thr) n.2355A>C c.2168A>C (p.Lys723Thr) n.2371A>C c.21A>C n.2406A>C c.564A>C c.-553+4737T>G (n.-553+4737T>G) c.2324A>C (p.Lys775Thr) c.2228A>C (p.Lys743Thr) c.-111A>C (n.-111A>C) c.2351A>C (p.Lys784Thr) c.2255A>C (p.Lys752Thr) c.2195A>C (p.Lys732Thr) c.2099A>C (p.Lys700Thr)
6	g.43048245T=	CA1624357269	CUL7,KLC4	c.2072A= (p.Lys691=) n.2355A= c.2168A= (p.Lys723=) n.2371A= c.21A= n.2406A= c.564A= c.-553+4737T= (n.-553+4737T=) c.2324A= (p.Lys775=) c.2228A= (p.Lys743=) c.-111A= (n.-111A=) c.2351A= (p.Lys784=) c.2255A= (p.Lys752=) c.2195A= (p.Lys732=) c.2099A= (p.Lys700=)
6	g.43048246T>A	CA364218661	CUL7,KLC4	c.2071A>T (p.Lys691Ter) n.2354A>T c.2167A>T (p.Lys723Ter) n.2370A>T c.20A>T n.2405A>T c.563A>T c.-553+4738T>A (n.-553+4738T>A) c.2323A>T (p.Lys775Ter) c.2227A>T (p.Lys743Ter) c.-112A>T (n.-112A>T) c.2350A>T (p.Lys784Ter) c.2254A>T (p.Lys752Ter) c.2194A>T (p.Lys732Ter) c.2098A>T (p.Lys700Ter)
6	g.43048246T>C	CA364218663	CUL7,KLC4	c.2071A>G (p.Lys691Glu) n.2354A>G c.2167A>G (p.Lys723Glu) n.2370A>G c.20A>G n.2405A>G c.563A>G c.-553+4738T>C (n.-553+4738T>C) c.2323A>G (p.Lys775Glu) c.2227A>G (p.Lys743Glu) c.-112A>G (n.-112A>G) c.2350A>G (p.Lys784Glu) c.2254A>G (p.Lys752Glu) c.2194A>G (p.Lys732Glu) c.2098A>G (p.Lys700Glu)
6	g.43048246T>G	CA364218665	CUL7,KLC4	c.2071A>C (p.Lys691Gln) n.2354A>C c.2167A>C (p.Lys723Gln) n.2370A>C c.20A>C n.2405A>C c.563A>C c.-553+4738T>G (n.-553+4738T>G) c.2323A>C (p.Lys775Gln) c.2227A>C (p.Lys743Gln) c.-112A>C (n.-112A>C) c.2350A>C (p.Lys784Gln) c.2254A>C (p.Lys752Gln) c.2194A>C (p.Lys732Gln) c.2098A>C (p.Lys700Gln)
6	g.43048247C>A	CA450261639	CUL7,KLC4	c.2070G>T (p.Leu690=) n.2353G>T c.2166G>T (p.Leu722=) n.2369G>T c.19G>T n.2404G>T c.562G>T c.-553+4739C>A (n.-553+4739C>A) c.2322G>T (p.Leu774=) c.2226G>T (p.Leu742=) c.-113G>T (n.-113G>T) c.2349G>T (p.Leu783=) c.2253G>T (p.Leu751=) c.2193G>T (p.Leu731=) c.2097G>T (p.Leu699=)
6	g.43048247C>G	CA450261641	CUL7,KLC4	c.2070G>C (p.Leu690=) n.2353G>C c.2166G>C (p.Leu722=) n.2369G>C c.19G>C n.2404G>C c.562G>C c.-553+4739C>G (n.-553+4739C>G) c.2322G>C (p.Leu774=) c.2226G>C (p.Leu742=) c.-113G>C (n.-113G>C) c.2349G>C (p.Leu783=) c.2253G>C (p.Leu751=) c.2193G>C (p.Leu731=) c.2097G>C (p.Leu699=)
6	g.43048247C>T	CA450261642	CUL7,KLC4	c.2070G>A (p.Leu690=) n.2353G>A c.2166G>A (p.Leu722=) n.2369G>A c.19G>A n.2404G>A c.562G>A c.-553+4739C>T (n.-553+4739C>T) c.2322G>A (p.Leu774=) c.2226G>A (p.Leu742=) c.-113G>A (n.-113G>A) c.2349G>A (p.Leu783=) c.2253G>A (p.Leu751=) c.2193G>A (p.Leu731=) c.2097G>A (p.Leu699=)	gnomAD v4
6	g.43048248A>C	CA364218667	CUL7,KLC4	c.2069T>G (p.Leu690Arg) n.2352T>G c.2165T>G (p.Leu722Arg) n.2368T>G c.18T>G n.2403T>G c.561T>G c.-553+4740A>C (n.-553+4740A>C) c.2321T>G (p.Leu774Arg) c.2225T>G (p.Leu742Arg) c.-114T>G (n.-114T>G) c.2348T>G (p.Leu783Arg) c.2252T>G (p.Leu751Arg) c.2192T>G (p.Leu731Arg) c.2096T>G (p.Leu699Arg)
6	g.43048248A>G	CA364218670	CUL7,KLC4	c.2069T>C (p.Leu690Pro) n.2352T>C c.2165T>C (p.Leu722Pro) n.2368T>C c.18T>C n.2403T>C c.561T>C c.-553+4740A>G (n.-553+4740A>G) c.2321T>C (p.Leu774Pro) c.2225T>C (p.Leu742Pro) c.-114T>C (n.-114T>C) c.2348T>C (p.Leu783Pro) c.2252T>C (p.Leu751Pro) c.2192T>C (p.Leu731Pro) c.2096T>C (p.Leu699Pro)
6	g.43048248A>T	CA364218672	CUL7,KLC4	c.2069T>A (p.Leu690Gln) n.2352T>A c.2165T>A (p.Leu722Gln) n.2368T>A c.18T>A n.2403T>A c.561T>A c.-553+4740A>T (n.-553+4740A>T) c.2321T>A (p.Leu774Gln) c.2225T>A (p.Leu742Gln) c.-114T>A (n.-114T>A) c.2348T>A (p.Leu783Gln) c.2252T>A (p.Leu751Gln) c.2192T>A (p.Leu731Gln) c.2096T>A (p.Leu699Gln)
6	g.43048249G>A	CA3813991	CUL7,KLC4	c.2068C>T (p.Leu690=) n.2351C>T c.2164C>T (p.Leu722=) n.2367C>T c.17C>T n.2402C>T c.560C>T c.-553+4741G>A (n.-553+4741G>A) c.2320C>T (p.Leu774=) c.2224C>T (p.Leu742=) c.-115C>T (n.-115C>T) c.2347C>T (p.Leu783=) c.2251C>T (p.Leu751=) c.2191C>T (p.Leu731=) c.2095C>T (p.Leu699=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048249G>C	CA364218677	CUL7,KLC4	c.2068C>G (p.Leu690Val) n.2351C>G c.2164C>G (p.Leu722Val) n.2367C>G c.17C>G n.2402C>G c.560C>G c.-553+4741G>C (n.-553+4741G>C) c.2320C>G (p.Leu774Val) c.2224C>G (p.Leu742Val) c.-115C>G (n.-115C>G) c.2347C>G (p.Leu783Val) c.2251C>G (p.Leu751Val) c.2191C>G (p.Leu731Val) c.2095C>G (p.Leu699Val)
6	g.43048249G=	CA1624357270	CUL7,KLC4	c.2068C= (p.Leu690=) n.2351C= c.2164C= (p.Leu722=) n.2367C= c.17C= n.2402C= c.560C= c.-553+4741G= (n.-553+4741G=) c.2320C= (p.Leu774=) c.2224C= (p.Leu742=) c.-115C= (n.-115C=) c.2347C= (p.Leu783=) c.2251C= (p.Leu751=) c.2191C= (p.Leu731=) c.2095C= (p.Leu699=)
6	g.43048249G>T	CA364218679	CUL7,KLC4	c.2068C>A (p.Leu690Met) n.2351C>A c.2164C>A (p.Leu722Met) n.2367C>A c.17C>A n.2402C>A c.560C>A c.-553+4741G>T (n.-553+4741G>T) c.2320C>A (p.Leu774Met) c.2224C>A (p.Leu742Met) c.-115C>A (n.-115C>A) c.2347C>A (p.Leu783Met) c.2251C>A (p.Leu751Met) c.2191C>A (p.Leu731Met) c.2095C>A (p.Leu699Met)
6	g.43048250G>A	CA450261646	CUL7,KLC4	c.2067C>T (p.Ile689=) n.2350C>T c.2163C>T (p.Ile721=) n.2366C>T c.16C>T n.2401C>T c.559C>T c.-553+4742G>A (n.-553+4742G>A) c.2319C>T (p.Ile773=) c.2223C>T (p.Ile741=) c.-116C>T (n.-116C>T) c.2346C>T (p.Ile782=) c.2250C>T (p.Ile750=) c.2190C>T (p.Ile730=) c.2094C>T (p.Ile698=)	gnomAD v4
6	g.43048250G>C	CA364218682	CUL7,KLC4	c.2067C>G (p.Ile689Met) n.2350C>G c.2163C>G (p.Ile721Met) n.2366C>G c.16C>G n.2401C>G c.559C>G c.-553+4742G>C (n.-553+4742G>C) c.2319C>G (p.Ile773Met) c.2223C>G (p.Ile741Met) c.-116C>G (n.-116C>G) c.2346C>G (p.Ile782Met) c.2250C>G (p.Ile750Met) c.2190C>G (p.Ile730Met) c.2094C>G (p.Ile698Met)
6	g.43048250G>T	CA450261647	CUL7,KLC4	c.2067C>A (p.Ile689=) n.2350C>A c.2163C>A (p.Ile721=) n.2366C>A c.16C>A n.2401C>A c.559C>A c.-553+4742G>T (n.-553+4742G>T) c.2319C>A (p.Ile773=) c.2223C>A (p.Ile741=) c.-116C>A (n.-116C>A) c.2346C>A (p.Ile782=) c.2250C>A (p.Ile750=) c.2190C>A (p.Ile730=) c.2094C>A (p.Ile698=)
6	g.43048251A>C	CA364218684	CUL7,KLC4	c.2066T>G (p.Ile689Ser) n.2349T>G c.2162T>G (p.Ile721Ser) n.2365T>G c.15T>G n.2400T>G c.558T>G c.-553+4743A>C (n.-553+4743A>C) c.2318T>G (p.Ile773Ser) c.2222T>G (p.Ile741Ser) c.-117T>G (n.-117T>G) c.2345T>G (p.Ile782Ser) c.2249T>G (p.Ile750Ser) c.2189T>G (p.Ile730Ser) c.2093T>G (p.Ile698Ser)
6	g.43048251A>G	CA364218688	CUL7,KLC4	c.2066T>C (p.Ile689Thr) n.2349T>C c.2162T>C (p.Ile721Thr) n.2365T>C c.15T>C n.2400T>C c.558T>C c.-553+4743A>G (n.-553+4743A>G) c.2318T>C (p.Ile773Thr) c.2222T>C (p.Ile741Thr) c.-117T>C (n.-117T>C) c.2345T>C (p.Ile782Thr) c.2249T>C (p.Ile750Thr) c.2189T>C (p.Ile730Thr) c.2093T>C (p.Ile698Thr)	gnomAD v4
6	g.43048251A>T	CA364218686	CUL7,KLC4	c.2066T>A (p.Ile689Asn) n.2349T>A c.2162T>A (p.Ile721Asn) n.2365T>A c.15T>A n.2400T>A c.558T>A c.-553+4743A>T (n.-553+4743A>T) c.2318T>A (p.Ile773Asn) c.2222T>A (p.Ile741Asn) c.-117T>A (n.-117T>A) c.2345T>A (p.Ile782Asn) c.2249T>A (p.Ile750Asn) c.2189T>A (p.Ile730Asn) c.2093T>A (p.Ile698Asn)
6	g.43048252T>A	CA364218691	CUL7,KLC4	c.2065A>T (p.Ile689Phe) n.2348A>T c.2161A>T (p.Ile721Phe) n.2364A>T c.14A>T n.2399A>T c.557A>T c.-553+4744T>A (n.-553+4744T>A) c.2317A>T (p.Ile773Phe) c.2221A>T (p.Ile741Phe) c.-118A>T (n.-118A>T) c.2344A>T (p.Ile782Phe) c.2248A>T (p.Ile750Phe) c.2188A>T (p.Ile730Phe) c.2092A>T (p.Ile698Phe)
6	g.43048252T>C	CA364218697	CUL7,KLC4	c.2065A>G (p.Ile689Val) n.2348A>G c.2161A>G (p.Ile721Val) n.2364A>G c.14A>G n.2399A>G c.557A>G c.-553+4744T>C (n.-553+4744T>C) c.2317A>G (p.Ile773Val) c.2221A>G (p.Ile741Val) c.-118A>G (n.-118A>G) c.2344A>G (p.Ile782Val) c.2248A>G (p.Ile750Val) c.2188A>G (p.Ile730Val) c.2092A>G (p.Ile698Val)
6	g.43048252T>G	CA364218694	CUL7,KLC4	c.2065A>C (p.Ile689Leu) n.2348A>C c.2161A>C (p.Ile721Leu) n.2364A>C c.14A>C n.2399A>C c.557A>C c.-553+4744T>G (n.-553+4744T>G) c.2317A>C (p.Ile773Leu) c.2221A>C (p.Ile741Leu) c.-118A>C (n.-118A>C) c.2344A>C (p.Ile782Leu) c.2248A>C (p.Ile750Leu) c.2188A>C (p.Ile730Leu) c.2092A>C (p.Ile698Leu)
6	g.43048253T>A	CA364218700	CUL7,KLC4	c.2064A>T (p.Arg688Ser) n.2347A>T c.2160A>T (p.Arg720Ser) n.2363A>T c.13A>T n.2398A>T c.556A>T c.-553+4745T>A (n.-553+4745T>A) c.2316A>T (p.Arg772Ser) c.2220A>T (p.Arg740Ser) c.-119A>T (n.-119A>T) c.2343A>T (p.Arg781Ser) c.2247A>T (p.Arg749Ser) c.2187A>T (p.Arg729Ser) c.2091A>T (p.Arg697Ser)
6	g.43048253T>C	CA450261649	CUL7,KLC4	c.2064A>G (p.Arg688=) n.2347A>G c.2160A>G (p.Arg720=) n.2363A>G c.13A>G n.2398A>G c.556A>G c.-553+4745T>C (n.-553+4745T>C) c.2316A>G (p.Arg772=) c.2220A>G (p.Arg740=) c.-119A>G (n.-119A>G) c.2343A>G (p.Arg781=) c.2247A>G (p.Arg749=) c.2187A>G (p.Arg729=) c.2091A>G (p.Arg697=)
6	g.43048253T>G	CA364218701	CUL7,KLC4	c.2064A>C (p.Arg688Ser) n.2347A>C c.2160A>C (p.Arg720Ser) n.2363A>C c.13A>C n.2398A>C c.556A>C c.-553+4745T>G (n.-553+4745T>G) c.2316A>C (p.Arg772Ser) c.2220A>C (p.Arg740Ser) c.-119A>C (n.-119A>C) c.2343A>C (p.Arg781Ser) c.2247A>C (p.Arg749Ser) c.2187A>C (p.Arg729Ser) c.2091A>C (p.Arg697Ser)
6	g.43048254C>A	CA364218705	CUL7,KLC4	c.2064-1G>T (n.2064-1G>T) n.2347-1G>T c.2160-1G>T (n.2160-1G>T) n.2363-1G>T c.13-1G>T n.2398-1G>T c.556-1G>T c.-553+4746C>A (n.-553+4746C>A) c.2316-1G>T (n.2316-1G>T) c.2220-1G>T (n.2220-1G>T) c.-119-1G>T (n.-119-1G>T) c.2343-1G>T (n.2343-1G>T) c.2247-1G>T (n.2247-1G>T) c.2187-1G>T (n.2187-1G>T) c.2091-1G>T (n.2091-1G>T)
6	g.43048254C>G	CA364218708	CUL7,KLC4	c.2064-1G>C (n.2064-1G>C) n.2347-1G>C c.2160-1G>C (n.2160-1G>C) n.2363-1G>C c.13-1G>C n.2398-1G>C c.556-1G>C c.-553+4746C>G (n.-553+4746C>G) c.2316-1G>C (n.2316-1G>C) c.2220-1G>C (n.2220-1G>C) c.-119-1G>C (n.-119-1G>C) c.2343-1G>C (n.2343-1G>C) c.2247-1G>C (n.2247-1G>C) c.2187-1G>C (n.2187-1G>C) c.2091-1G>C (n.2091-1G>C)
6	g.43048254C>T	CA364218711	CUL7,KLC4	c.2064-1G>A (n.2064-1G>A) n.2347-1G>A c.2160-1G>A (n.2160-1G>A) n.2363-1G>A c.13-1G>A n.2398-1G>A c.556-1G>A c.-553+4746C>T (n.-553+4746C>T) c.2316-1G>A (n.2316-1G>A) c.2220-1G>A (n.2220-1G>A) c.-119-1G>A (n.-119-1G>A) c.2343-1G>A (n.2343-1G>A) c.2247-1G>A (n.2247-1G>A) c.2187-1G>A (n.2187-1G>A) c.2091-1G>A (n.2091-1G>A)	ClinVar dbSNP
6	g.43048255T>A	CA364218714	CUL7,KLC4	c.2064-2A>T (n.2064-2A>T) n.2347-2A>T c.2160-2A>T (n.2160-2A>T) n.2363-2A>T c.13-2A>T n.2398-2A>T c.556-2A>T c.-553+4747T>A (n.-553+4747T>A) c.2316-2A>T (n.2316-2A>T) c.2220-2A>T (n.2220-2A>T) c.-119-2A>T (n.-119-2A>T) c.2343-2A>T (n.2343-2A>T) c.2247-2A>T (n.2247-2A>T) c.2187-2A>T (n.2187-2A>T) c.2091-2A>T (n.2091-2A>T)
6	g.43048255T>C	CA364218715	CUL7,KLC4	c.2064-2A>G (n.2064-2A>G) n.2347-2A>G c.2160-2A>G (n.2160-2A>G) n.2363-2A>G c.13-2A>G n.2398-2A>G c.556-2A>G c.-553+4747T>C (n.-553+4747T>C) c.2316-2A>G (n.2316-2A>G) c.2220-2A>G (n.2220-2A>G) c.-119-2A>G (n.-119-2A>G) c.2343-2A>G (n.2343-2A>G) c.2247-2A>G (n.2247-2A>G) c.2187-2A>G (n.2187-2A>G) c.2091-2A>G (n.2091-2A>G)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
6	g.43048255T>G	CA364218717	CUL7,KLC4	c.2064-2A>C (n.2064-2A>C) n.2347-2A>C c.2160-2A>C (n.2160-2A>C) n.2363-2A>C c.13-2A>C n.2398-2A>C c.556-2A>C c.-553+4747T>G (n.-553+4747T>G) c.2316-2A>C (n.2316-2A>C) c.2220-2A>C (n.2220-2A>C) c.-119-2A>C (n.-119-2A>C) c.2343-2A>C (n.2343-2A>C) c.2247-2A>C (n.2247-2A>C) c.2187-2A>C (n.2187-2A>C) c.2091-2A>C (n.2091-2A>C)
6	g.43048255T=	CA1624357271	CUL7,KLC4	c.2064-2A= (n.2064-2A=) n.2347-2A= c.2160-2A= (n.2160-2A=) n.2363-2A= c.13-2A= n.2398-2A= c.556-2A= c.-553+4747T= (n.-553+4747T=) c.2316-2A= (n.2316-2A=) c.2220-2A= (n.2220-2A=) c.-119-2A= (n.-119-2A=) c.2343-2A= (n.2343-2A=) c.2247-2A= (n.2247-2A=) c.2187-2A= (n.2187-2A=) c.2091-2A= (n.2091-2A=)
6	g.43048260del	CA2678807725	CUL7,KLC4	c.2064-3del (n.2064-3del) n.2347-3del c.2160-3del (n.2160-3del) n.2363-3del c.13-3del n.2398-3del c.556-3del c.-553+4752del (n.-553+4752del) c.2316-3del (n.2316-3del) c.2220-3del (n.2220-3del) c.-119-3del (n.-119-3del) c.2343-3del (n.2343-3del) c.2247-3del (n.2247-3del) c.2187-3del (n.2187-3del) c.2091-3del (n.2091-3del)	gnomAD v4
6	g.43048257G>A	CA3813992	CUL7,KLC4	c.2064-4C>T (n.2064-4C>T) n.2347-4C>T c.2160-4C>T (n.2160-4C>T) n.2363-4C>T c.13-4C>T n.2398-4C>T c.556-4C>T c.-553+4749G>A (n.-553+4749G>A) c.2316-4C>T (n.2316-4C>T) c.2220-4C>T (n.2220-4C>T) c.-119-4C>T (n.-119-4C>T) c.2343-4C>T (n.2343-4C>T) c.2247-4C>T (n.2247-4C>T) c.2187-4C>T (n.2187-4C>T) c.2091-4C>T (n.2091-4C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048257G=	CA1624357272	CUL7,KLC4	c.2064-4C= (n.2064-4C=) n.2347-4C= c.2160-4C= (n.2160-4C=) n.2363-4C= c.13-4C= n.2398-4C= c.556-4C= c.-553+4749G= (n.-553+4749G=) c.2316-4C= (n.2316-4C=) c.2220-4C= (n.2220-4C=) c.-119-4C= (n.-119-4C=) c.2343-4C= (n.2343-4C=) c.2247-4C= (n.2247-4C=) c.2187-4C= (n.2187-4C=) c.2091-4C= (n.2091-4C=)
6	g.43048258G>A	CA3813993	CUL7,KLC4	c.2064-5C>T (n.2064-5C>T) n.2347-5C>T c.2160-5C>T (n.2160-5C>T) n.2363-5C>T c.13-5C>T n.2398-5C>T c.556-5C>T c.-553+4750G>A (n.-553+4750G>A) c.2316-5C>T (n.2316-5C>T) c.2220-5C>T (n.2220-5C>T) c.-119-5C>T (n.-119-5C>T) c.2343-5C>T (n.2343-5C>T) c.2247-5C>T (n.2247-5C>T) c.2187-5C>T (n.2187-5C>T) c.2091-5C>T (n.2091-5C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048258G=	CA1624357273	CUL7,KLC4	c.2064-5C= (n.2064-5C=) n.2347-5C= c.2160-5C= (n.2160-5C=) n.2363-5C= c.13-5C= n.2398-5C= c.556-5C= c.-553+4750G= (n.-553+4750G=) c.2316-5C= (n.2316-5C=) c.2220-5C= (n.2220-5C=) c.-119-5C= (n.-119-5C=) c.2343-5C= (n.2343-5C=) c.2247-5C= (n.2247-5C=) c.2187-5C= (n.2187-5C=) c.2091-5C= (n.2091-5C=)
6	g.43048259G>A	CA824872322	CUL7,KLC4	c.2064-6C>T (n.2064-6C>T) n.2347-6C>T c.2160-6C>T (n.2160-6C>T) n.2363-6C>T c.13-6C>T n.2398-6C>T c.556-6C>T c.-553+4751G>A (n.-553+4751G>A) c.2316-6C>T (n.2316-6C>T) c.2220-6C>T (n.2220-6C>T) c.-119-6C>T (n.-119-6C>T) c.2343-6C>T (n.2343-6C>T) c.2247-6C>T (n.2247-6C>T) c.2187-6C>T (n.2187-6C>T) c.2091-6C>T (n.2091-6C>T)	dbSNP
6	g.43048259G=	CA1624357275	CUL7,KLC4	c.2064-6C= (n.2064-6C=) n.2347-6C= c.2160-6C= (n.2160-6C=) n.2363-6C= c.13-6C= n.2398-6C= c.556-6C= c.-553+4751G= (n.-553+4751G=) c.2316-6C= (n.2316-6C=) c.2220-6C= (n.2220-6C=) c.-119-6C= (n.-119-6C=) c.2343-6C= (n.2343-6C=) c.2247-6C= (n.2247-6C=) c.2187-6C= (n.2187-6C=) c.2091-6C= (n.2091-6C=)
6	g.43048259G>T	CA1624357274	CUL7,KLC4	c.2064-6C>A (n.2064-6C>A) n.2347-6C>A c.2160-6C>A (n.2160-6C>A) n.2363-6C>A c.13-6C>A n.2398-6C>A c.556-6C>A c.-553+4751G>T (n.-553+4751G>T) c.2316-6C>A (n.2316-6C>A) c.2220-6C>A (n.2220-6C>A) c.-119-6C>A (n.-119-6C>A) c.2343-6C>A (n.2343-6C>A) c.2247-6C>A (n.2247-6C>A) c.2187-6C>A (n.2187-6C>A) c.2091-6C>A (n.2091-6C>A)	dbSNP gnomAD v4
6	g.43048259_43048260insAACA	CA2513228954	CUL7,KLC4	c.2064-7_2064-6insTGTT (n.2064-7_2064-6insTGTT) n.2347-7_2347-6insTGTT c.2160-7_2160-6insTGTT (n.2160-7_2160-6insTGTT) n.2363-7_2363-6insTGTT c.13-7_13-6insTGTT n.2398-7_2398-6insTGTT c.556-7_556-6insTGTT c.-553+4751_-553+4752insAACA (n.-553+4751_-553+4752insAACA) c.2316-7_2316-6insTGTT (n.2316-7_2316-6insTGTT) c.2220-7_2220-6insTGTT (n.2220-7_2220-6insTGTT) c.-119-7_-119-6insTGTT (n.-119-7_-119-6insTGTT) c.2343-7_2343-6insTGTT (n.2343-7_2343-6insTGTT) c.2247-7_2247-6insTGTT (n.2247-7_2247-6insTGTT) c.2187-7_2187-6insTGTT (n.2187-7_2187-6insTGTT) c.2091-7_2091-6insTGTT (n.2091-7_2091-6insTGTT)
6	g.43048260G>A	CA3813994	CUL7,KLC4	c.2064-7C>T (n.2064-7C>T) n.2347-7C>T c.2160-7C>T (n.2160-7C>T) n.2363-7C>T c.13-7C>T n.2398-7C>T c.556-7C>T c.-553+4752G>A (n.-553+4752G>A) c.2316-7C>T (n.2316-7C>T) c.2220-7C>T (n.2220-7C>T) c.-119-7C>T (n.-119-7C>T) c.2343-7C>T (n.2343-7C>T) c.2247-7C>T (n.2247-7C>T) c.2187-7C>T (n.2187-7C>T) c.2091-7C>T (n.2091-7C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048260G=	CA1624357276	CUL7,KLC4	c.2064-7C= (n.2064-7C=) n.2347-7C= c.2160-7C= (n.2160-7C=) n.2363-7C= c.13-7C= n.2398-7C= c.556-7C= c.-553+4752G= (n.-553+4752G=) c.2316-7C= (n.2316-7C=) c.2220-7C= (n.2220-7C=) c.-119-7C= (n.-119-7C=) c.2343-7C= (n.2343-7C=) c.2247-7C= (n.2247-7C=) c.2187-7C= (n.2187-7C=) c.2091-7C= (n.2091-7C=)
6	g.43048260G>T	CA2678807726	CUL7,KLC4	c.2064-7C>A (n.2064-7C>A) n.2347-7C>A c.2160-7C>A (n.2160-7C>A) n.2363-7C>A c.13-7C>A n.2398-7C>A c.556-7C>A c.-553+4752G>T (n.-553+4752G>T) c.2316-7C>A (n.2316-7C>A) c.2220-7C>A (n.2220-7C>A) c.-119-7C>A (n.-119-7C>A) c.2343-7C>A (n.2343-7C>A) c.2247-7C>A (n.2247-7C>A) c.2187-7C>A (n.2187-7C>A) c.2091-7C>A (n.2091-7C>A)	gnomAD v4
6	g.43048260_43048261insGGGA	CA2499745031	CUL7,KLC4	c.2064-8_2064-7insTCCC (n.2064-8_2064-7insTCCC) n.2347-8_2347-7insTCCC c.2160-8_2160-7insTCCC (n.2160-8_2160-7insTCCC) n.2363-8_2363-7insTCCC c.13-8_13-7insTCCC n.2398-8_2398-7insTCCC c.556-8_556-7insTCCC c.-553+4752_-553+4753insGGGA (n.-553+4752_-553+4753insGGGA) c.2316-8_2316-7insTCCC (n.2316-8_2316-7insTCCC) c.2220-8_2220-7insTCCC (n.2220-8_2220-7insTCCC) c.-119-8_-119-7insTCCC (n.-119-8_-119-7insTCCC) c.2343-8_2343-7insTCCC (n.2343-8_2343-7insTCCC) c.2247-8_2247-7insTCCC (n.2247-8_2247-7insTCCC) c.2187-8_2187-7insTCCC (n.2187-8_2187-7insTCCC) c.2091-8_2091-7insTCCC (n.2091-8_2091-7insTCCC)
6	g.43048261C>T	CA2578622187	CUL7,KLC4	c.2064-8G>A (n.2064-8G>A) n.2347-8G>A c.2160-8G>A (n.2160-8G>A) n.2363-8G>A c.13-8G>A n.2398-8G>A c.556-8G>A c.-553+4753C>T (n.-553+4753C>T) c.2316-8G>A (n.2316-8G>A) c.2220-8G>A (n.2220-8G>A) c.-119-8G>A (n.-119-8G>A) c.2343-8G>A (n.2343-8G>A) c.2247-8G>A (n.2247-8G>A) c.2187-8G>A (n.2187-8G>A) c.2091-8G>A (n.2091-8G>A)
6	g.43048262A>C	CA2678807727	CUL7,KLC4	c.2064-9T>G (n.2064-9T>G) n.2347-9T>G c.2160-9T>G (n.2160-9T>G) n.2363-9T>G c.13-9T>G n.2398-9T>G c.556-9T>G c.-553+4754A>C (n.-553+4754A>C) c.2316-9T>G (n.2316-9T>G) c.2220-9T>G (n.2220-9T>G) c.-119-9T>G (n.-119-9T>G) c.2343-9T>G (n.2343-9T>G) c.2247-9T>G (n.2247-9T>G) c.2187-9T>G (n.2187-9T>G) c.2091-9T>G (n.2091-9T>G)	gnomAD v4
6	g.43048263G>A	CA138249143	CUL7,KLC4	c.2064-10C>T (n.2064-10C>T) n.2347-10C>T c.2160-10C>T (n.2160-10C>T) n.2363-10C>T c.13-10C>T n.2398-10C>T c.556-10C>T c.-553+4755G>A (n.-553+4755G>A) c.2316-10C>T (n.2316-10C>T) c.2220-10C>T (n.2220-10C>T) c.-119-10C>T (n.-119-10C>T) c.2343-10C>T (n.2343-10C>T) c.2247-10C>T (n.2247-10C>T) c.2187-10C>T (n.2187-10C>T) c.2091-10C>T (n.2091-10C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048263G=	CA1624357277	CUL7,KLC4	c.2064-10C= (n.2064-10C=) n.2347-10C= c.2160-10C= (n.2160-10C=) n.2363-10C= c.13-10C= n.2398-10C= c.556-10C= c.-553+4755G= (n.-553+4755G=) c.2316-10C= (n.2316-10C=) c.2220-10C= (n.2220-10C=) c.-119-10C= (n.-119-10C=) c.2343-10C= (n.2343-10C=) c.2247-10C= (n.2247-10C=) c.2187-10C= (n.2187-10C=) c.2091-10C= (n.2091-10C=)
6	g.43048263G>T	CA2678807728	CUL7,KLC4	c.2064-10C>A (n.2064-10C>A) n.2347-10C>A c.2160-10C>A (n.2160-10C>A) n.2363-10C>A c.13-10C>A n.2398-10C>A c.556-10C>A c.-553+4755G>T (n.-553+4755G>T) c.2316-10C>A (n.2316-10C>A) c.2220-10C>A (n.2220-10C>A) c.-119-10C>A (n.-119-10C>A) c.2343-10C>A (n.2343-10C>A) c.2247-10C>A (n.2247-10C>A) c.2187-10C>A (n.2187-10C>A) c.2091-10C>A (n.2091-10C>A)	gnomAD v4
6	g.43048263_43048264insGAGGAT	CA2515549638	CUL7,KLC4	c.2064-11_2064-10insATCCTC (n.2064-11_2064-10insATCCTC) n.2347-11_2347-10insATCCTC c.2160-11_2160-10insATCCTC (n.2160-11_2160-10insATCCTC) n.2363-11_2363-10insATCCTC c.13-11_13-10insATCCTC n.2398-11_2398-10insATCCTC c.556-11_556-10insATCCTC c.-553+4755_-553+4756insGAGGAT (n.-553+4755_-553+4756insGAGGAT) c.2316-11_2316-10insATCCTC (n.2316-11_2316-10insATCCTC) c.2220-11_2220-10insATCCTC (n.2220-11_2220-10insATCCTC) c.-119-11_-119-10insATCCTC (n.-119-11_-119-10insATCCTC) c.2343-11_2343-10insATCCTC (n.2343-11_2343-10insATCCTC) c.2247-11_2247-10insATCCTC (n.2247-11_2247-10insATCCTC) c.2187-11_2187-10insATCCTC (n.2187-11_2187-10insATCCTC) c.2091-11_2091-10insATCCTC (n.2091-11_2091-10insATCCTC)
6	g.43048265G>A	CA3813995	CUL7,KLC4	c.2064-12C>T (n.2064-12C>T) n.2347-12C>T c.2160-12C>T (n.2160-12C>T) n.2363-12C>T c.13-12C>T n.2398-12C>T c.556-12C>T c.-553+4757G>A (n.-553+4757G>A) c.2316-12C>T (n.2316-12C>T) c.2220-12C>T (n.2220-12C>T) c.-119-12C>T (n.-119-12C>T) c.2343-12C>T (n.2343-12C>T) c.2247-12C>T (n.2247-12C>T) c.2187-12C>T (n.2187-12C>T) c.2091-12C>T (n.2091-12C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048265G=	CA1624357278	CUL7,KLC4	c.2064-12C= (n.2064-12C=) n.2347-12C= c.2160-12C= (n.2160-12C=) n.2363-12C= c.13-12C= n.2398-12C= c.556-12C= c.-553+4757G= (n.-553+4757G=) c.2316-12C= (n.2316-12C=) c.2220-12C= (n.2220-12C=) c.-119-12C= (n.-119-12C=) c.2343-12C= (n.2343-12C=) c.2247-12C= (n.2247-12C=) c.2187-12C= (n.2187-12C=) c.2091-12C= (n.2091-12C=)
6	g.43048265G>T	CA2678807729	CUL7,KLC4	c.2064-12C>A (n.2064-12C>A) n.2347-12C>A c.2160-12C>A (n.2160-12C>A) n.2363-12C>A c.13-12C>A n.2398-12C>A c.556-12C>A c.-553+4757G>T (n.-553+4757G>T) c.2316-12C>A (n.2316-12C>A) c.2220-12C>A (n.2220-12C>A) c.-119-12C>A (n.-119-12C>A) c.2343-12C>A (n.2343-12C>A) c.2247-12C>A (n.2247-12C>A) c.2187-12C>A (n.2187-12C>A) c.2091-12C>A (n.2091-12C>A)	gnomAD v4
6	g.43048267A=	CA1624357279	CUL7,KLC4	c.2064-14T= (n.2064-14T=) n.2347-14T= c.2160-14T= (n.2160-14T=) n.2363-14T= c.13-14T= n.2398-14T= c.556-14T= c.-553+4759A= (n.-553+4759A=) c.2316-14T= (n.2316-14T=) c.2220-14T= (n.2220-14T=) c.-119-14T= (n.-119-14T=) c.2343-14T= (n.2343-14T=) c.2247-14T= (n.2247-14T=) c.2187-14T= (n.2187-14T=) c.2091-14T= (n.2091-14T=)
6	g.43048267A>G	CA567150861	CUL7,KLC4	c.2064-14T>C (n.2064-14T>C) n.2347-14T>C c.2160-14T>C (n.2160-14T>C) n.2363-14T>C c.13-14T>C n.2398-14T>C c.556-14T>C c.-553+4759A>G (n.-553+4759A>G) c.2316-14T>C (n.2316-14T>C) c.2220-14T>C (n.2220-14T>C) c.-119-14T>C (n.-119-14T>C) c.2343-14T>C (n.2343-14T>C) c.2247-14T>C (n.2247-14T>C) c.2187-14T>C (n.2187-14T>C) c.2091-14T>C (n.2091-14T>C)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched