Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.43048439G>A	CA450261932	CUL7,KLC4	c.1956C>T (p.Val652=) n.2239C>T c.2052C>T (p.Val684=) n.2255C>T n.2290C>T c.448C>T c.-553+4931G>A (n.-553+4931G>A) c.2208C>T (p.Val736=) c.2112C>T (p.Val704=) c.-227C>T (n.-227C>T) c.2235C>T (p.Val745=) c.2139C>T (p.Val713=) c.2079C>T (p.Val693=) c.1983C>T (p.Val661=)	dbSNP gnomAD v3 gnomAD v4
6	g.43048439G>C	CA450261933	CUL7,KLC4	c.1956C>G (p.Val652=) n.2239C>G c.2052C>G (p.Val684=) n.2255C>G n.2290C>G c.448C>G c.-553+4931G>C (n.-553+4931G>C) c.2208C>G (p.Val736=) c.2112C>G (p.Val704=) c.-227C>G (n.-227C>G) c.2235C>G (p.Val745=) c.2139C>G (p.Val713=) c.2079C>G (p.Val693=) c.1983C>G (p.Val661=)	gnomAD v4
6	g.43048439G=	CA1624357367	CUL7,KLC4	c.1956C= (p.Val652=) n.2239C= c.2052C= (p.Val684=) n.2255C= n.2290C= c.448C= c.-553+4931G= (n.-553+4931G=) c.2208C= (p.Val736=) c.2112C= (p.Val704=) c.-227C= (n.-227C=) c.2235C= (p.Val745=) c.2139C= (p.Val713=) c.2079C= (p.Val693=) c.1983C= (p.Val661=)
6	g.43048439G>T	CA138249273	CUL7,KLC4	c.1956C>A (p.Val652=) n.2239C>A c.2052C>A (p.Val684=) n.2255C>A n.2290C>A c.448C>A c.-553+4931G>T (n.-553+4931G>T) c.2208C>A (p.Val736=) c.2112C>A (p.Val704=) c.-227C>A (n.-227C>A) c.2235C>A (p.Val745=) c.2139C>A (p.Val713=) c.2079C>A (p.Val693=) c.1983C>A (p.Val661=)	dbSNP gnomAD v2 gnomAD v4
6	g.43048440A=	CA1624357368	CUL7,KLC4	c.1955T= (p.Val652=) n.2238T= c.2051T= (p.Val684=) n.2254T= n.2289T= c.447T= c.-553+4932A= (n.-553+4932A=) c.2207T= (p.Val736=) c.2111T= (p.Val704=) c.-228T= (n.-228T=) c.2234T= (p.Val745=) c.2138T= (p.Val713=) c.2078T= (p.Val693=) c.1982T= (p.Val661=)
6	g.43048440A>C	CA364220364	CUL7,KLC4	c.1955T>G (p.Val652Gly) n.2238T>G c.2051T>G (p.Val684Gly) n.2254T>G n.2289T>G c.447T>G c.-553+4932A>C (n.-553+4932A>C) c.2207T>G (p.Val736Gly) c.2111T>G (p.Val704Gly) c.-228T>G (n.-228T>G) c.2234T>G (p.Val745Gly) c.2138T>G (p.Val713Gly) c.2078T>G (p.Val693Gly) c.1982T>G (p.Val661Gly)
6	g.43048440A>G	CA364220368	CUL7,KLC4	c.1955T>C (p.Val652Ala) n.2238T>C c.2051T>C (p.Val684Ala) n.2254T>C n.2289T>C c.447T>C c.-553+4932A>G (n.-553+4932A>G) c.2207T>C (p.Val736Ala) c.2111T>C (p.Val704Ala) c.-228T>C (n.-228T>C) c.2234T>C (p.Val745Ala) c.2138T>C (p.Val713Ala) c.2078T>C (p.Val693Ala) c.1982T>C (p.Val661Ala)
6	g.43048440A>T	CA364220371	CUL7,KLC4	c.1955T>A (p.Val652Asp) n.2238T>A c.2051T>A (p.Val684Asp) n.2254T>A n.2289T>A c.447T>A c.-553+4932A>T (n.-553+4932A>T) c.2207T>A (p.Val736Asp) c.2111T>A (p.Val704Asp) c.-228T>A (n.-228T>A) c.2234T>A (p.Val745Asp) c.2138T>A (p.Val713Asp) c.2078T>A (p.Val693Asp) c.1982T>A (p.Val661Asp)	dbSNP gnomAD v2
6	g.43048441C>A	CA364220381	CUL7,KLC4	c.1954G>T (p.Val652Phe) n.2237G>T c.2050G>T (p.Val684Phe) n.2253G>T n.2288G>T c.446G>T c.-553+4933C>A (n.-553+4933C>A) c.2206G>T (p.Val736Phe) c.2110G>T (p.Val704Phe) c.-229G>T (n.-229G>T) c.2233G>T (p.Val745Phe) c.2137G>T (p.Val713Phe) c.2077G>T (p.Val693Phe) c.1981G>T (p.Val661Phe)
6	g.43048441C>G	CA364220379	CUL7,KLC4	c.1954G>C (p.Val652Leu) n.2237G>C c.2050G>C (p.Val684Leu) n.2253G>C n.2288G>C c.446G>C c.-553+4933C>G (n.-553+4933C>G) c.2206G>C (p.Val736Leu) c.2110G>C (p.Val704Leu) c.-229G>C (n.-229G>C) c.2233G>C (p.Val745Leu) c.2137G>C (p.Val713Leu) c.2077G>C (p.Val693Leu) c.1981G>C (p.Val661Leu)
6	g.43048441C>T	CA364220376	CUL7,KLC4	c.1954G>A (p.Val652Ile) n.2237G>A c.2050G>A (p.Val684Ile) n.2253G>A n.2288G>A c.446G>A c.-553+4933C>T (n.-553+4933C>T) c.2206G>A (p.Val736Ile) c.2110G>A (p.Val704Ile) c.-229G>A (n.-229G>A) c.2233G>A (p.Val745Ile) c.2137G>A (p.Val713Ile) c.2077G>A (p.Val693Ile) c.1981G>A (p.Val661Ile)
6	g.43048442C>A	CA364220384	CUL7,KLC4	c.1953G>T (p.Lys651Asn) n.2236G>T c.2049G>T (p.Lys683Asn) n.2252G>T n.2287G>T c.445G>T c.-553+4934C>A (n.-553+4934C>A) c.2205G>T (p.Lys735Asn) c.2109G>T (p.Lys703Asn) c.-230G>T (n.-230G>T) c.2232G>T (p.Lys744Asn) c.2136G>T (p.Lys712Asn) c.2076G>T (p.Lys692Asn) c.1980G>T (p.Lys660Asn)
6	g.43048442C=	CA1624357369	CUL7,KLC4	c.1953G= (p.Lys651=) n.2236G= c.2049G= (p.Lys683=) n.2252G= n.2287G= c.445G= c.-553+4934C= (n.-553+4934C=) c.2205G= (p.Lys735=) c.2109G= (p.Lys703=) c.-230G= (n.-230G=) c.2232G= (p.Lys744=) c.2136G= (p.Lys712=) c.2076G= (p.Lys692=) c.1980G= (p.Lys660=)
6	g.43048442C>G	CA364220387	CUL7,KLC4	c.1953G>C (p.Lys651Asn) n.2236G>C c.2049G>C (p.Lys683Asn) n.2252G>C n.2287G>C c.445G>C c.-553+4934C>G (n.-553+4934C>G) c.2205G>C (p.Lys735Asn) c.2109G>C (p.Lys703Asn) c.-230G>C (n.-230G>C) c.2232G>C (p.Lys744Asn) c.2136G>C (p.Lys712Asn) c.2076G>C (p.Lys692Asn) c.1980G>C (p.Lys660Asn)
6	g.43048442C>T	CA3814034	CUL7,KLC4	c.1953G>A (p.Lys651=) n.2236G>A c.2049G>A (p.Lys683=) n.2252G>A n.2287G>A c.445G>A c.-553+4934C>T (n.-553+4934C>T) c.2205G>A (p.Lys735=) c.2109G>A (p.Lys703=) c.-230G>A (n.-230G>A) c.2232G>A (p.Lys744=) c.2136G>A (p.Lys712=) c.2076G>A (p.Lys692=) c.1980G>A (p.Lys660=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048443T>A	CA364220400	CUL7,KLC4	c.1952A>T (p.Lys651Met) n.2235A>T c.2048A>T (p.Lys683Met) n.2251A>T n.2286A>T c.444A>T c.-553+4935T>A (n.-553+4935T>A) c.2204A>T (p.Lys735Met) c.2108A>T (p.Lys703Met) c.-231A>T (n.-231A>T) c.2231A>T (p.Lys744Met) c.2135A>T (p.Lys712Met) c.2075A>T (p.Lys692Met) c.1979A>T (p.Lys660Met)
6	g.43048443T>C	CA364220402	CUL7,KLC4	c.1952A>G (p.Lys651Arg) n.2235A>G c.2048A>G (p.Lys683Arg) n.2251A>G n.2286A>G c.444A>G c.-553+4935T>C (n.-553+4935T>C) c.2204A>G (p.Lys735Arg) c.2108A>G (p.Lys703Arg) c.-231A>G (n.-231A>G) c.2231A>G (p.Lys744Arg) c.2135A>G (p.Lys712Arg) c.2075A>G (p.Lys692Arg) c.1979A>G (p.Lys660Arg)
6	g.43048443T>G	CA364220404	CUL7,KLC4	c.1952A>C (p.Lys651Thr) n.2235A>C c.2048A>C (p.Lys683Thr) n.2251A>C n.2286A>C c.444A>C c.-553+4935T>G (n.-553+4935T>G) c.2204A>C (p.Lys735Thr) c.2108A>C (p.Lys703Thr) c.-231A>C (n.-231A>C) c.2231A>C (p.Lys744Thr) c.2135A>C (p.Lys712Thr) c.2075A>C (p.Lys692Thr) c.1979A>C (p.Lys660Thr)
6	g.43048444T>A	CA364220421	CUL7,KLC4	c.1951A>T (p.Lys651Ter) n.2234A>T c.2047A>T (p.Lys683Ter) n.2250A>T n.2285A>T c.443A>T c.-553+4936T>A (n.-553+4936T>A) c.2203A>T (p.Lys735Ter) c.2107A>T (p.Lys703Ter) c.-232A>T (n.-232A>T) c.2230A>T (p.Lys744Ter) c.2134A>T (p.Lys712Ter) c.2074A>T (p.Lys692Ter) c.1978A>T (p.Lys660Ter)
6	g.43048444T>C	CA3814035	CUL7,KLC4	c.1951A>G (p.Lys651Glu) n.2234A>G c.2047A>G (p.Lys683Glu) n.2250A>G n.2285A>G c.443A>G c.-553+4936T>C (n.-553+4936T>C) c.2203A>G (p.Lys735Glu) c.2107A>G (p.Lys703Glu) c.-232A>G (n.-232A>G) c.2230A>G (p.Lys744Glu) c.2134A>G (p.Lys712Glu) c.2074A>G (p.Lys692Glu) c.1978A>G (p.Lys660Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048444T>G	CA364220416	CUL7,KLC4	c.1951A>C (p.Lys651Gln) n.2234A>C c.2047A>C (p.Lys683Gln) n.2250A>C n.2285A>C c.443A>C c.-553+4936T>G (n.-553+4936T>G) c.2203A>C (p.Lys735Gln) c.2107A>C (p.Lys703Gln) c.-232A>C (n.-232A>C) c.2230A>C (p.Lys744Gln) c.2134A>C (p.Lys712Gln) c.2074A>C (p.Lys692Gln) c.1978A>C (p.Lys660Gln)
6	g.43048444T=	CA1624357370	CUL7,KLC4	c.1951A= (p.Lys651=) n.2234A= c.2047A= (p.Lys683=) n.2250A= n.2285A= c.443A= c.-553+4936T= (n.-553+4936T=) c.2203A= (p.Lys735=) c.2107A= (p.Lys703=) c.-232A= (n.-232A=) c.2230A= (p.Lys744=) c.2134A= (p.Lys712=) c.2074A= (p.Lys692=) c.1978A= (p.Lys660=)
6	g.43048445G>A	CA450261946	CUL7,KLC4	c.1950C>T (p.Asn650=) n.2233C>T c.2046C>T (p.Asn682=) n.2249C>T n.2284C>T c.442C>T c.-553+4937G>A (n.-553+4937G>A) c.2202C>T (p.Asn734=) c.2106C>T (p.Asn702=) c.-233C>T (n.-233C>T) c.2229C>T (p.Asn743=) c.2133C>T (p.Asn711=) c.2073C>T (p.Asn691=) c.1977C>T (p.Asn659=)	gnomAD v4
6	g.43048445G>C	CA364220424	CUL7,KLC4	c.1950C>G (p.Asn650Lys) n.2233C>G c.2046C>G (p.Asn682Lys) n.2249C>G n.2284C>G c.442C>G c.-553+4937G>C (n.-553+4937G>C) c.2202C>G (p.Asn734Lys) c.2106C>G (p.Asn702Lys) c.-233C>G (n.-233C>G) c.2229C>G (p.Asn743Lys) c.2133C>G (p.Asn711Lys) c.2073C>G (p.Asn691Lys) c.1977C>G (p.Asn659Lys)
6	g.43048445G>T	CA364220427	CUL7,KLC4	c.1950C>A (p.Asn650Lys) n.2233C>A c.2046C>A (p.Asn682Lys) n.2249C>A n.2284C>A c.442C>A c.-553+4937G>T (n.-553+4937G>T) c.2202C>A (p.Asn734Lys) c.2106C>A (p.Asn702Lys) c.-233C>A (n.-233C>A) c.2229C>A (p.Asn743Lys) c.2133C>A (p.Asn711Lys) c.2073C>A (p.Asn691Lys) c.1977C>A (p.Asn659Lys)
6	g.43048446T>A	CA364220428	CUL7,KLC4	c.1949A>T (p.Asn650Ile) n.2232A>T c.2045A>T (p.Asn682Ile) n.2248A>T n.2283A>T c.441A>T c.-553+4938T>A (n.-553+4938T>A) c.2201A>T (p.Asn734Ile) c.2105A>T (p.Asn702Ile) c.-234A>T (n.-234A>T) c.2228A>T (p.Asn743Ile) c.2132A>T (p.Asn711Ile) c.2072A>T (p.Asn691Ile) c.1976A>T (p.Asn659Ile)
6	g.43048446T>C	CA364220429	CUL7,KLC4	c.1949A>G (p.Asn650Ser) n.2232A>G c.2045A>G (p.Asn682Ser) n.2248A>G n.2283A>G c.441A>G c.-553+4938T>C (n.-553+4938T>C) c.2201A>G (p.Asn734Ser) c.2105A>G (p.Asn702Ser) c.-234A>G (n.-234A>G) c.2228A>G (p.Asn743Ser) c.2132A>G (p.Asn711Ser) c.2072A>G (p.Asn691Ser) c.1976A>G (p.Asn659Ser)
6	g.43048446T>G	CA364220430	CUL7,KLC4	c.1949A>C (p.Asn650Thr) n.2232A>C c.2045A>C (p.Asn682Thr) n.2248A>C n.2283A>C c.441A>C c.-553+4938T>G (n.-553+4938T>G) c.2201A>C (p.Asn734Thr) c.2105A>C (p.Asn702Thr) c.-234A>C (n.-234A>C) c.2228A>C (p.Asn743Thr) c.2132A>C (p.Asn711Thr) c.2072A>C (p.Asn691Thr) c.1976A>C (p.Asn659Thr)
6	g.43048447T>A	CA364220431	CUL7,KLC4	c.1948A>T (p.Asn650Tyr) n.2231A>T c.2044A>T (p.Asn682Tyr) n.2247A>T n.2282A>T c.440A>T c.-553+4939T>A (n.-553+4939T>A) c.2200A>T (p.Asn734Tyr) c.2104A>T (p.Asn702Tyr) c.-235A>T (n.-235A>T) c.2227A>T (p.Asn743Tyr) c.2131A>T (p.Asn711Tyr) c.2071A>T (p.Asn691Tyr) c.1975A>T (p.Asn659Tyr)
6	g.43048447T>C	CA364220437	CUL7,KLC4	c.1948A>G (p.Asn650Asp) n.2231A>G c.2044A>G (p.Asn682Asp) n.2247A>G n.2282A>G c.440A>G c.-553+4939T>C (n.-553+4939T>C) c.2200A>G (p.Asn734Asp) c.2104A>G (p.Asn702Asp) c.-235A>G (n.-235A>G) c.2227A>G (p.Asn743Asp) c.2131A>G (p.Asn711Asp) c.2071A>G (p.Asn691Asp) c.1975A>G (p.Asn659Asp)
6	g.43048447T>G	CA364220434	CUL7,KLC4	c.1948A>C (p.Asn650His) n.2231A>C c.2044A>C (p.Asn682His) n.2247A>C n.2282A>C c.440A>C c.-553+4939T>G (n.-553+4939T>G) c.2200A>C (p.Asn734His) c.2104A>C (p.Asn702His) c.-235A>C (n.-235A>C) c.2227A>C (p.Asn743His) c.2131A>C (p.Asn711His) c.2071A>C (p.Asn691His) c.1975A>C (p.Asn659His)
6	g.43048448del	CA2678807749	CUL7,KLC4	c.1947del (p.Asn650ThrfsTer20) n.2230del c.2043del (p.Asn682ThrfsTer20) n.2246del n.2281del c.439del c.-553+4940del (n.-553+4940del) c.2199del (p.Asn734ThrfsTer20) c.2103del (p.Asn702ThrfsTer20) c.-236del (n.-236del) c.2226del (p.Asn743ThrfsTer20) c.2130del (p.Asn711ThrfsTer20) c.2070del (p.Asn691ThrfsTer20) c.1974del (p.Asn659ThrfsTer20)	gnomAD v4
6	g.43048448C>A	CA364220440	CUL7,KLC4	c.1947G>T (p.Glu649Asp) n.2230G>T c.2043G>T (p.Glu681Asp) n.2246G>T n.2281G>T c.439G>T c.-553+4940C>A (n.-553+4940C>A) c.2199G>T (p.Glu733Asp) c.2103G>T (p.Glu701Asp) c.-236G>T (n.-236G>T) c.2226G>T (p.Glu742Asp) c.2130G>T (p.Glu710Asp) c.2070G>T (p.Glu690Asp) c.1974G>T (p.Glu658Asp)
6	g.43048448C>G	CA364220444	CUL7,KLC4	c.1947G>C (p.Glu649Asp) n.2230G>C c.2043G>C (p.Glu681Asp) n.2246G>C n.2281G>C c.439G>C c.-553+4940C>G (n.-553+4940C>G) c.2199G>C (p.Glu733Asp) c.2103G>C (p.Glu701Asp) c.-236G>C (n.-236G>C) c.2226G>C (p.Glu742Asp) c.2130G>C (p.Glu710Asp) c.2070G>C (p.Glu690Asp) c.1974G>C (p.Glu658Asp)
6	g.43048448C>T	CA450261952	CUL7,KLC4	c.1947G>A (p.Glu649=) n.2230G>A c.2043G>A (p.Glu681=) n.2246G>A n.2281G>A c.439G>A c.-553+4940C>T (n.-553+4940C>T) c.2199G>A (p.Glu733=) c.2103G>A (p.Glu701=) c.-236G>A (n.-236G>A) c.2226G>A (p.Glu742=) c.2130G>A (p.Glu710=) c.2070G>A (p.Glu690=) c.1974G>A (p.Glu658=)	gnomAD v4
6	g.43048449T>A	CA364220447	CUL7,KLC4	c.1946A>T (p.Glu649Val) n.2229A>T c.2042A>T (p.Glu681Val) n.2245A>T n.2280A>T c.438A>T c.-553+4941T>A (n.-553+4941T>A) c.2198A>T (p.Glu733Val) c.2102A>T (p.Glu701Val) c.-237A>T (n.-237A>T) c.2225A>T (p.Glu742Val) c.2129A>T (p.Glu710Val) c.2069A>T (p.Glu690Val) c.1973A>T (p.Glu658Val)
6	g.43048449T>C	CA364220451	CUL7,KLC4	c.1946A>G (p.Glu649Gly) n.2229A>G c.2042A>G (p.Glu681Gly) n.2245A>G n.2280A>G c.438A>G c.-553+4941T>C (n.-553+4941T>C) c.2198A>G (p.Glu733Gly) c.2102A>G (p.Glu701Gly) c.-237A>G (n.-237A>G) c.2225A>G (p.Glu742Gly) c.2129A>G (p.Glu710Gly) c.2069A>G (p.Glu690Gly) c.1973A>G (p.Glu658Gly)
6	g.43048449T>G	CA364220454	CUL7,KLC4	c.1946A>C (p.Glu649Ala) n.2229A>C c.2042A>C (p.Glu681Ala) n.2245A>C n.2280A>C c.438A>C c.-553+4941T>G (n.-553+4941T>G) c.2198A>C (p.Glu733Ala) c.2102A>C (p.Glu701Ala) c.-237A>C (n.-237A>C) c.2225A>C (p.Glu742Ala) c.2129A>C (p.Glu710Ala) c.2069A>C (p.Glu690Ala) c.1973A>C (p.Glu658Ala)	gnomAD v4
6	g.43048450C>A	CA364220468	CUL7,KLC4	c.1945G>T (p.Glu649Ter) n.2228G>T c.2041G>T (p.Glu681Ter) n.2244G>T n.2279G>T c.437G>T c.-553+4942C>A (n.-553+4942C>A) c.2197G>T (p.Glu733Ter) c.2101G>T (p.Glu701Ter) c.-238G>T (n.-238G>T) c.2224G>T (p.Glu742Ter) c.2128G>T (p.Glu710Ter) c.2068G>T (p.Glu690Ter) c.1972G>T (p.Glu658Ter)
6	g.43048450C=	CA1624357371	CUL7,KLC4	c.1945G= (p.Glu649=) n.2228G= c.2041G= (p.Glu681=) n.2244G= n.2279G= c.437G= c.-553+4942C= (n.-553+4942C=) c.2197G= (p.Glu733=) c.2101G= (p.Glu701=) c.-238G= (n.-238G=) c.2224G= (p.Glu742=) c.2128G= (p.Glu710=) c.2068G= (p.Glu690=) c.1972G= (p.Glu658=)
6	g.43048450C>G	CA364220473	CUL7,KLC4	c.1945G>C (p.Glu649Gln) n.2228G>C c.2041G>C (p.Glu681Gln) n.2244G>C n.2279G>C c.437G>C c.-553+4942C>G (n.-553+4942C>G) c.2197G>C (p.Glu733Gln) c.2101G>C (p.Glu701Gln) c.-238G>C (n.-238G>C) c.2224G>C (p.Glu742Gln) c.2128G>C (p.Glu710Gln) c.2068G>C (p.Glu690Gln) c.1972G>C (p.Glu658Gln)
6	g.43048450C>T	CA138249276	CUL7,KLC4	c.1945G>A (p.Glu649Lys) n.2228G>A c.2041G>A (p.Glu681Lys) n.2244G>A n.2279G>A c.437G>A c.-553+4942C>T (n.-553+4942C>T) c.2197G>A (p.Glu733Lys) c.2101G>A (p.Glu701Lys) c.-238G>A (n.-238G>A) c.2224G>A (p.Glu742Lys) c.2128G>A (p.Glu710Lys) c.2068G>A (p.Glu690Lys) c.1972G>A (p.Glu658Lys)	dbSNP gnomAD v3 gnomAD v4
6	g.43048451C>A	CA364220479	CUL7,KLC4	c.1944G>T (p.Gln648His) n.2227G>T c.2040G>T (p.Gln680His) n.2243G>T n.2278G>T c.436G>T c.-553+4943C>A (n.-553+4943C>A) c.2196G>T (p.Gln732His) c.2100G>T (p.Gln700His) c.-239G>T (n.-239G>T) c.2223G>T (p.Gln741His) c.2127G>T (p.Gln709His) c.2067G>T (p.Gln689His) c.1971G>T (p.Gln657His)
6	g.43048451C=	CA1624357372	CUL7,KLC4	c.1944G= (p.Gln648=) n.2227G= c.2040G= (p.Gln680=) n.2243G= n.2278G= c.436G= c.-553+4943C= (n.-553+4943C=) c.2196G= (p.Gln732=) c.2100G= (p.Gln700=) c.-239G= (n.-239G=) c.2223G= (p.Gln741=) c.2127G= (p.Gln709=) c.2067G= (p.Gln689=) c.1971G= (p.Gln657=)
6	g.43048451C>G	CA364220481	CUL7,KLC4	c.1944G>C (p.Gln648His) n.2227G>C c.2040G>C (p.Gln680His) n.2243G>C n.2278G>C c.436G>C c.-553+4943C>G (n.-553+4943C>G) c.2196G>C (p.Gln732His) c.2100G>C (p.Gln700His) c.-239G>C (n.-239G>C) c.2223G>C (p.Gln741His) c.2127G>C (p.Gln709His) c.2067G>C (p.Gln689His) c.1971G>C (p.Gln657His)
6	g.43048451C>T	CA450261959	CUL7,KLC4	c.1944G>A (p.Gln648=) n.2227G>A c.2040G>A (p.Gln680=) n.2243G>A n.2278G>A c.436G>A c.-553+4943C>T (n.-553+4943C>T) c.2196G>A (p.Gln732=) c.2100G>A (p.Gln700=) c.-239G>A (n.-239G>A) c.2223G>A (p.Gln741=) c.2127G>A (p.Gln709=) c.2067G>A (p.Gln689=) c.1971G>A (p.Gln657=)	dbSNP gnomAD v4
6	g.43048452T>A	CA364220487	CUL7,KLC4	c.1943A>T (p.Gln648Leu) n.2226A>T c.2039A>T (p.Gln680Leu) n.2242A>T n.2277A>T c.435A>T c.-553+4944T>A (n.-553+4944T>A) c.2195A>T (p.Gln732Leu) c.2099A>T (p.Gln700Leu) c.-240A>T (n.-240A>T) c.2222A>T (p.Gln741Leu) c.2126A>T (p.Gln709Leu) c.2066A>T (p.Gln689Leu) c.1970A>T (p.Gln657Leu)
6	g.43048452T>C	CA364220486	CUL7,KLC4	c.1943A>G (p.Gln648Arg) n.2226A>G c.2039A>G (p.Gln680Arg) n.2242A>G n.2277A>G c.435A>G c.-553+4944T>C (n.-553+4944T>C) c.2195A>G (p.Gln732Arg) c.2099A>G (p.Gln700Arg) c.-240A>G (n.-240A>G) c.2222A>G (p.Gln741Arg) c.2126A>G (p.Gln709Arg) c.2066A>G (p.Gln689Arg) c.1970A>G (p.Gln657Arg)
6	g.43048452T>G	CA364220484	CUL7,KLC4	c.1943A>C (p.Gln648Pro) n.2226A>C c.2039A>C (p.Gln680Pro) n.2242A>C n.2277A>C c.435A>C c.-553+4944T>G (n.-553+4944T>G) c.2195A>C (p.Gln732Pro) c.2099A>C (p.Gln700Pro) c.-240A>C (n.-240A>C) c.2222A>C (p.Gln741Pro) c.2126A>C (p.Gln709Pro) c.2066A>C (p.Gln689Pro) c.1970A>C (p.Gln657Pro)	gnomAD v4
6	g.43048453G>A	CA364220490	CUL7,KLC4	c.1942C>T (p.Gln648Ter) n.2225C>T c.2038C>T (p.Gln680Ter) n.2241C>T n.2276C>T c.434C>T c.-553+4945G>A (n.-553+4945G>A) c.2194C>T (p.Gln732Ter) c.2098C>T (p.Gln700Ter) c.-241C>T (n.-241C>T) c.2221C>T (p.Gln741Ter) c.2125C>T (p.Gln709Ter) c.2065C>T (p.Gln689Ter) c.1969C>T (p.Gln657Ter)
6	g.43048453G>C	CA364220496	CUL7,KLC4	c.1942C>G (p.Gln648Glu) n.2225C>G c.2038C>G (p.Gln680Glu) n.2241C>G n.2276C>G c.434C>G c.-553+4945G>C (n.-553+4945G>C) c.2194C>G (p.Gln732Glu) c.2098C>G (p.Gln700Glu) c.-241C>G (n.-241C>G) c.2221C>G (p.Gln741Glu) c.2125C>G (p.Gln709Glu) c.2065C>G (p.Gln689Glu) c.1969C>G (p.Gln657Glu)
6	g.43048453G>T	CA364220492	CUL7,KLC4	c.1942C>A (p.Gln648Lys) n.2225C>A c.2038C>A (p.Gln680Lys) n.2241C>A n.2276C>A c.434C>A c.-553+4945G>T (n.-553+4945G>T) c.2194C>A (p.Gln732Lys) c.2098C>A (p.Gln700Lys) c.-241C>A (n.-241C>A) c.2221C>A (p.Gln741Lys) c.2125C>A (p.Gln709Lys) c.2065C>A (p.Gln689Lys) c.1969C>A (p.Gln657Lys)
6	g.43048454G>A	CA450261962	CUL7,KLC4	c.1941C>T (p.Thr647=) n.2224C>T c.2037C>T (p.Thr679=) n.2240C>T n.2275C>T c.433C>T c.-553+4946G>A (n.-553+4946G>A) c.2193C>T (p.Thr731=) c.2097C>T (p.Thr699=) c.-242C>T (n.-242C>T) c.2220C>T (p.Thr740=) c.2124C>T (p.Thr708=) c.2064C>T (p.Thr688=) c.1968C>T (p.Thr656=)	dbSNP gnomAD v2 gnomAD v4
6	g.43048454G>C	CA450261964	CUL7,KLC4	c.1941C>G (p.Thr647=) n.2224C>G c.2037C>G (p.Thr679=) n.2240C>G n.2275C>G c.433C>G c.-553+4946G>C (n.-553+4946G>C) c.2193C>G (p.Thr731=) c.2097C>G (p.Thr699=) c.-242C>G (n.-242C>G) c.2220C>G (p.Thr740=) c.2124C>G (p.Thr708=) c.2064C>G (p.Thr688=) c.1968C>G (p.Thr656=)
6	g.43048454G=	CA1624357373	CUL7,KLC4	c.1941C= (p.Thr647=) n.2224C= c.2037C= (p.Thr679=) n.2240C= n.2275C= c.433C= c.-553+4946G= (n.-553+4946G=) c.2193C= (p.Thr731=) c.2097C= (p.Thr699=) c.-242C= (n.-242C=) c.2220C= (p.Thr740=) c.2124C= (p.Thr708=) c.2064C= (p.Thr688=) c.1968C= (p.Thr656=)
6	g.43048454G>T	CA450261966	CUL7,KLC4	c.1941C>A (p.Thr647=) n.2224C>A c.2037C>A (p.Thr679=) n.2240C>A n.2275C>A c.433C>A c.-553+4946G>T (n.-553+4946G>T) c.2193C>A (p.Thr731=) c.2097C>A (p.Thr699=) c.-242C>A (n.-242C>A) c.2220C>A (p.Thr740=) c.2124C>A (p.Thr708=) c.2064C>A (p.Thr688=) c.1968C>A (p.Thr656=)	dbSNP gnomAD v3 gnomAD v4
6	g.43048455G>A	CA3814036	CUL7,KLC4	c.1940C>T (p.Thr647Ile) n.2223C>T c.2036C>T (p.Thr679Ile) n.2239C>T n.2274C>T c.432C>T c.-553+4947G>A (n.-553+4947G>A) c.2192C>T (p.Thr731Ile) c.2096C>T (p.Thr699Ile) c.-243C>T (n.-243C>T) c.2219C>T (p.Thr740Ile) c.2123C>T (p.Thr708Ile) c.2063C>T (p.Thr688Ile) c.1967C>T (p.Thr656Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048455G>C	CA364220502	CUL7,KLC4	c.1940C>G (p.Thr647Ser) n.2223C>G c.2036C>G (p.Thr679Ser) n.2239C>G n.2274C>G c.432C>G c.-553+4947G>C (n.-553+4947G>C) c.2192C>G (p.Thr731Ser) c.2096C>G (p.Thr699Ser) c.-243C>G (n.-243C>G) c.2219C>G (p.Thr740Ser) c.2123C>G (p.Thr708Ser) c.2063C>G (p.Thr688Ser) c.1967C>G (p.Thr656Ser)
6	g.43048455G=	CA1624357374	CUL7,KLC4	c.1940C= (p.Thr647=) n.2223C= c.2036C= (p.Thr679=) n.2239C= n.2274C= c.432C= c.-553+4947G= (n.-553+4947G=) c.2192C= (p.Thr731=) c.2096C= (p.Thr699=) c.-243C= (n.-243C=) c.2219C= (p.Thr740=) c.2123C= (p.Thr708=) c.2063C= (p.Thr688=) c.1967C= (p.Thr656=)
6	g.43048455G>T	CA364220501	CUL7,KLC4	c.1940C>A (p.Thr647Asn) n.2223C>A c.2036C>A (p.Thr679Asn) n.2239C>A n.2274C>A c.432C>A c.-553+4947G>T (n.-553+4947G>T) c.2192C>A (p.Thr731Asn) c.2096C>A (p.Thr699Asn) c.-243C>A (n.-243C>A) c.2219C>A (p.Thr740Asn) c.2123C>A (p.Thr708Asn) c.2063C>A (p.Thr688Asn) c.1967C>A (p.Thr656Asn)
6	g.43048456T>A	CA364220503	CUL7,KLC4	c.1939A>T (p.Thr647Ser) n.2222A>T c.2035A>T (p.Thr679Ser) n.2238A>T n.2273A>T c.431A>T c.-553+4948T>A (n.-553+4948T>A) c.2191A>T (p.Thr731Ser) c.2095A>T (p.Thr699Ser) c.-244A>T (n.-244A>T) c.2218A>T (p.Thr740Ser) c.2122A>T (p.Thr708Ser) c.2062A>T (p.Thr688Ser) c.1966A>T (p.Thr656Ser)
6	g.43048456T>C	CA364220505	CUL7,KLC4	c.1939A>G (p.Thr647Ala) n.2222A>G c.2035A>G (p.Thr679Ala) n.2238A>G n.2273A>G c.431A>G c.-553+4948T>C (n.-553+4948T>C) c.2191A>G (p.Thr731Ala) c.2095A>G (p.Thr699Ala) c.-244A>G (n.-244A>G) c.2218A>G (p.Thr740Ala) c.2122A>G (p.Thr708Ala) c.2062A>G (p.Thr688Ala) c.1966A>G (p.Thr656Ala)
6	g.43048456T>G	CA364220504	CUL7,KLC4	c.1939A>C (p.Thr647Pro) n.2222A>C c.2035A>C (p.Thr679Pro) n.2238A>C n.2273A>C c.431A>C c.-553+4948T>G (n.-553+4948T>G) c.2191A>C (p.Thr731Pro) c.2095A>C (p.Thr699Pro) c.-244A>C (n.-244A>C) c.2218A>C (p.Thr740Pro) c.2122A>C (p.Thr708Pro) c.2062A>C (p.Thr688Pro) c.1966A>C (p.Thr656Pro)
6	g.43048456_43048457delinsTC	CA1624357375	CUL7,KLC4	c.1938_1939delinsGA (p.Gly646=) n.2221_2222delinsGA c.2034_2035delinsGA (p.Gly678=) n.2237_2238delinsGA n.2272_2273delinsGA c.430_431delinsGA c.-553+4948_-553+4949delinsTC (n.-553+4948_-553+4949delinsTC) c.2190_2191delinsGA (p.Gly730=) c.2094_2095delinsGA (p.Gly698=) c.-245_-244delinsGA (n.-245_-244delinsGA) c.2217_2218delinsGA (p.Gly739=) c.2121_2122delinsGA (p.Gly707=) c.2061_2062delinsGA (p.Gly687=) c.1965_1966delinsGA (p.Gly655=)
6	g.43048457C>A	CA450261968	CUL7,KLC4	c.1938G>T (p.Gly646=) n.2221G>T c.2034G>T (p.Gly678=) n.2237G>T n.2272G>T c.430G>T c.-553+4949C>A (n.-553+4949C>A) c.2190G>T (p.Gly730=) c.2094G>T (p.Gly698=) c.-245G>T (n.-245G>T) c.2217G>T (p.Gly739=) c.2121G>T (p.Gly707=) c.2061G>T (p.Gly687=) c.1965G>T (p.Gly655=)
6	g.43048457C=	CA1624357376	CUL7,KLC4	c.1938G= (p.Gly646=) n.2221G= c.2034G= (p.Gly678=) n.2237G= n.2272G= c.430G= c.-553+4949C= (n.-553+4949C=) c.2190G= (p.Gly730=) c.2094G= (p.Gly698=) c.-245G= (n.-245G=) c.2217G= (p.Gly739=) c.2121G= (p.Gly707=) c.2061G= (p.Gly687=) c.1965G= (p.Gly655=)
6	g.43048457C>G	CA450261970	CUL7,KLC4	c.1938G>C (p.Gly646=) n.2221G>C c.2034G>C (p.Gly678=) n.2237G>C n.2272G>C c.430G>C c.-553+4949C>G (n.-553+4949C>G) c.2190G>C (p.Gly730=) c.2094G>C (p.Gly698=) c.-245G>C (n.-245G>C) c.2217G>C (p.Gly739=) c.2121G>C (p.Gly707=) c.2061G>C (p.Gly687=) c.1965G>C (p.Gly655=)
6	g.43048457C>T	CA138249279	CUL7,KLC4	c.1938G>A (p.Gly646=) n.2221G>A c.2034G>A (p.Gly678=) n.2237G>A n.2272G>A c.430G>A c.-553+4949C>T (n.-553+4949C>T) c.2190G>A (p.Gly730=) c.2094G>A (p.Gly698=) c.-245G>A (n.-245G>A) c.2217G>A (p.Gly739=) c.2121G>A (p.Gly707=) c.2061G>A (p.Gly687=) c.1965G>A (p.Gly655=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048460dup	CA2695206337	CUL7,KLC4	c.1938dup (p.Thr647AspfsTer?) n.2221dup c.2034dup (p.Thr679AspfsTer?) n.2237dup n.2272dup c.430dup c.-553+4952dup (n.-553+4952dup) c.2190dup (p.Thr731AspfsTer?) c.2094dup (p.Thr699AspfsTer?) c.-245dup (n.-245dup) c.2217dup (p.Thr740AspfsTer?) c.2121dup (p.Thr708AspfsTer?) c.2061dup (p.Thr688AspfsTer?) c.1965dup (p.Thr656AspfsTer?)
6	g.43048460del	CA567150903	CUL7,KLC4	c.1938del (p.Thr647ProfsTer23) n.2221del c.2034del (p.Thr679ProfsTer23) n.2237del n.2272del c.430del c.-553+4952del (n.-553+4952del) c.2190del (p.Thr731ProfsTer23) c.2094del (p.Thr699ProfsTer23) c.-245del (n.-245del) c.2217del (p.Thr740ProfsTer23) c.2121del (p.Thr708ProfsTer23) c.2061del (p.Thr688ProfsTer23) c.1965del (p.Thr656ProfsTer23)	dbSNP gnomAD v2
6	g.43048458C>A	CA364220508	CUL7,KLC4	c.1937G>T (p.Gly646Val) n.2220G>T c.2033G>T (p.Gly678Val) n.2236G>T n.2271G>T c.429G>T c.-553+4950C>A (n.-553+4950C>A) c.2189G>T (p.Gly730Val) c.2093G>T (p.Gly698Val) c.-246G>T (n.-246G>T) c.2216G>T (p.Gly739Val) c.2120G>T (p.Gly707Val) c.2060G>T (p.Gly687Val) c.1964G>T (p.Gly655Val)
6	g.43048458C>G	CA364220512	CUL7,KLC4	c.1937G>C (p.Gly646Ala) n.2220G>C c.2033G>C (p.Gly678Ala) n.2236G>C n.2271G>C c.429G>C c.-553+4950C>G (n.-553+4950C>G) c.2189G>C (p.Gly730Ala) c.2093G>C (p.Gly698Ala) c.-246G>C (n.-246G>C) c.2216G>C (p.Gly739Ala) c.2120G>C (p.Gly707Ala) c.2060G>C (p.Gly687Ala) c.1964G>C (p.Gly655Ala)
6	g.43048458C>T	CA364220514	CUL7,KLC4	c.1937G>A (p.Gly646Glu) n.2220G>A c.2033G>A (p.Gly678Glu) n.2236G>A n.2271G>A c.429G>A c.-553+4950C>T (n.-553+4950C>T) c.2189G>A (p.Gly730Glu) c.2093G>A (p.Gly698Glu) c.-246G>A (n.-246G>A) c.2216G>A (p.Gly739Glu) c.2120G>A (p.Gly707Glu) c.2060G>A (p.Gly687Glu) c.1964G>A (p.Gly655Glu)	gnomAD v4
6	g.43048459C>A	CA364220516	CUL7,KLC4	c.1936G>T (p.Gly646Trp) n.2219G>T c.2032G>T (p.Gly678Trp) n.2235G>T n.2270G>T c.428G>T c.-553+4951C>A (n.-553+4951C>A) c.2188G>T (p.Gly730Trp) c.2092G>T (p.Gly698Trp) c.-247G>T (n.-247G>T) c.2215G>T (p.Gly739Trp) c.2119G>T (p.Gly707Trp) c.2059G>T (p.Gly687Trp) c.1963G>T (p.Gly655Trp)
6	g.43048459C>G	CA364220519	CUL7,KLC4	c.1936G>C (p.Gly646Arg) n.2219G>C c.2032G>C (p.Gly678Arg) n.2235G>C n.2270G>C c.428G>C c.-553+4951C>G (n.-553+4951C>G) c.2188G>C (p.Gly730Arg) c.2092G>C (p.Gly698Arg) c.-247G>C (n.-247G>C) c.2215G>C (p.Gly739Arg) c.2119G>C (p.Gly707Arg) c.2059G>C (p.Gly687Arg) c.1963G>C (p.Gly655Arg)
6	g.43048459C>T	CA364220521	CUL7,KLC4	c.1936G>A (p.Gly646Arg) n.2219G>A c.2032G>A (p.Gly678Arg) n.2235G>A n.2270G>A c.428G>A c.-553+4951C>T (n.-553+4951C>T) c.2188G>A (p.Gly730Arg) c.2092G>A (p.Gly698Arg) c.-247G>A (n.-247G>A) c.2215G>A (p.Gly739Arg) c.2119G>A (p.Gly707Arg) c.2059G>A (p.Gly687Arg) c.1963G>A (p.Gly655Arg)
6	g.43048460C>A	CA364220525	CUL7,KLC4	c.1935G>T (p.Glu645Asp) n.2218G>T c.2031G>T (p.Glu677Asp) n.2234G>T n.2269G>T c.427G>T c.-553+4952C>A (n.-553+4952C>A) c.2187G>T (p.Glu729Asp) c.2091G>T (p.Glu697Asp) c.-248G>T (n.-248G>T) c.2214G>T (p.Glu738Asp) c.2118G>T (p.Glu706Asp) c.2058G>T (p.Glu686Asp) c.1962G>T (p.Glu654Asp)
6	g.43048460C>G	CA364220528	CUL7,KLC4	c.1935G>C (p.Glu645Asp) n.2218G>C c.2031G>C (p.Glu677Asp) n.2234G>C n.2269G>C c.427G>C c.-553+4952C>G (n.-553+4952C>G) c.2187G>C (p.Glu729Asp) c.2091G>C (p.Glu697Asp) c.-248G>C (n.-248G>C) c.2214G>C (p.Glu738Asp) c.2118G>C (p.Glu706Asp) c.2058G>C (p.Glu686Asp) c.1962G>C (p.Glu654Asp)
6	g.43048460C>T	CA450261976	CUL7,KLC4	c.1935G>A (p.Glu645=) n.2218G>A c.2031G>A (p.Glu677=) n.2234G>A n.2269G>A c.427G>A c.-553+4952C>T (n.-553+4952C>T) c.2187G>A (p.Glu729=) c.2091G>A (p.Glu697=) c.-248G>A (n.-248G>A) c.2214G>A (p.Glu738=) c.2118G>A (p.Glu706=) c.2058G>A (p.Glu686=) c.1962G>A (p.Glu654=)
6	g.43048461T>A	CA364220532	CUL7,KLC4	c.1934A>T (p.Glu645Val) n.2217A>T c.2030A>T (p.Glu677Val) n.2233A>T n.2268A>T c.426A>T c.-553+4953T>A (n.-553+4953T>A) c.2186A>T (p.Glu729Val) c.2090A>T (p.Glu697Val) c.-249A>T (n.-249A>T) c.2213A>T (p.Glu738Val) c.2117A>T (p.Glu706Val) c.2057A>T (p.Glu686Val) c.1961A>T (p.Glu654Val)
6	g.43048461T>C	CA364220537	CUL7,KLC4	c.1934A>G (p.Glu645Gly) n.2217A>G c.2030A>G (p.Glu677Gly) n.2233A>G n.2268A>G c.426A>G c.-553+4953T>C (n.-553+4953T>C) c.2186A>G (p.Glu729Gly) c.2090A>G (p.Glu697Gly) c.-249A>G (n.-249A>G) c.2213A>G (p.Glu738Gly) c.2117A>G (p.Glu706Gly) c.2057A>G (p.Glu686Gly) c.1961A>G (p.Glu654Gly)
6	g.43048461T>G	CA364220549	CUL7,KLC4	c.1934A>C (p.Glu645Ala) n.2217A>C c.2030A>C (p.Glu677Ala) n.2233A>C n.2268A>C c.426A>C c.-553+4953T>G (n.-553+4953T>G) c.2186A>C (p.Glu729Ala) c.2090A>C (p.Glu697Ala) c.-249A>C (n.-249A>C) c.2213A>C (p.Glu738Ala) c.2117A>C (p.Glu706Ala) c.2057A>C (p.Glu686Ala) c.1961A>C (p.Glu654Ala)	gnomAD v4
6	g.43048462C>A	CA364220553	CUL7,KLC4	c.1933G>T (p.Glu645Ter) n.2216G>T c.2029G>T (p.Glu677Ter) n.2232G>T n.2267G>T c.425G>T c.-553+4954C>A (n.-553+4954C>A) c.2185G>T (p.Glu729Ter) c.2089G>T (p.Glu697Ter) c.-250G>T (n.-250G>T) c.2212G>T (p.Glu738Ter) c.2116G>T (p.Glu706Ter) c.2056G>T (p.Glu686Ter) c.1960G>T (p.Glu654Ter)
6	g.43048462C>G	CA364220551	CUL7,KLC4	c.1933G>C (p.Glu645Gln) n.2216G>C c.2029G>C (p.Glu677Gln) n.2232G>C n.2267G>C c.425G>C c.-553+4954C>G (n.-553+4954C>G) c.2185G>C (p.Glu729Gln) c.2089G>C (p.Glu697Gln) c.-250G>C (n.-250G>C) c.2212G>C (p.Glu738Gln) c.2116G>C (p.Glu706Gln) c.2056G>C (p.Glu686Gln) c.1960G>C (p.Glu654Gln)
6	g.43048462C>T	CA364220552	CUL7,KLC4	c.1933G>A (p.Glu645Lys) n.2216G>A c.2029G>A (p.Glu677Lys) n.2232G>A n.2267G>A c.425G>A c.-553+4954C>T (n.-553+4954C>T) c.2185G>A (p.Glu729Lys) c.2089G>A (p.Glu697Lys) c.-250G>A (n.-250G>A) c.2212G>A (p.Glu738Lys) c.2116G>A (p.Glu706Lys) c.2056G>A (p.Glu686Lys) c.1960G>A (p.Glu654Lys)
6	g.43048463T>A	CA450261978	CUL7,KLC4	c.1932A>T (p.Ser644=) n.2215A>T c.2028A>T (p.Ser676=) n.2231A>T n.2266A>T c.424A>T c.-553+4955T>A (n.-553+4955T>A) c.2184A>T (p.Ser728=) c.2088A>T (p.Ser696=) c.-251A>T (n.-251A>T) c.2211A>T (p.Ser737=) c.2115A>T (p.Ser705=) c.2055A>T (p.Ser685=) c.1959A>T (p.Ser653=)
6	g.43048463T>C	CA3814037	CUL7,KLC4	c.1932A>G (p.Ser644=) n.2215A>G c.2028A>G (p.Ser676=) n.2231A>G n.2266A>G c.424A>G c.-553+4955T>C (n.-553+4955T>C) c.2184A>G (p.Ser728=) c.2088A>G (p.Ser696=) c.-251A>G (n.-251A>G) c.2211A>G (p.Ser737=) c.2115A>G (p.Ser705=) c.2055A>G (p.Ser685=) c.1959A>G (p.Ser653=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048463T>G	CA3814038	CUL7,KLC4	c.1932A>C (p.Ser644=) n.2215A>C c.2028A>C (p.Ser676=) n.2231A>C n.2266A>C c.424A>C c.-553+4955T>G (n.-553+4955T>G) c.2184A>C (p.Ser728=) c.2088A>C (p.Ser696=) c.-251A>C (n.-251A>C) c.2211A>C (p.Ser737=) c.2115A>C (p.Ser705=) c.2055A>C (p.Ser685=) c.1959A>C (p.Ser653=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048463T=	CA1624357377	CUL7,KLC4	c.1932A= (p.Ser644=) n.2215A= c.2028A= (p.Ser676=) n.2231A= n.2266A= c.424A= c.-553+4955T= (n.-553+4955T=) c.2184A= (p.Ser728=) c.2088A= (p.Ser696=) c.-251A= (n.-251A=) c.2211A= (p.Ser737=) c.2115A= (p.Ser705=) c.2055A= (p.Ser685=) c.1959A= (p.Ser653=)
6	g.43048464G>A	CA364220557	CUL7,KLC4	c.1931C>T (p.Ser644Leu) n.2214C>T c.2027C>T (p.Ser676Leu) n.2230C>T n.2265C>T c.423C>T c.-553+4956G>A (n.-553+4956G>A) c.2183C>T (p.Ser728Leu) c.2087C>T (p.Ser696Leu) c.-252C>T (n.-252C>T) c.2210C>T (p.Ser737Leu) c.2114C>T (p.Ser705Leu) c.2054C>T (p.Ser685Leu) c.1958C>T (p.Ser653Leu)	gnomAD v4
6	g.43048464G>C	CA364220561	CUL7,KLC4	c.1931C>G (p.Ser644Ter) n.2214C>G c.2027C>G (p.Ser676Ter) n.2230C>G n.2265C>G c.423C>G c.-553+4956G>C (n.-553+4956G>C) c.2183C>G (p.Ser728Ter) c.2087C>G (p.Ser696Ter) c.-252C>G (n.-252C>G) c.2210C>G (p.Ser737Ter) c.2114C>G (p.Ser705Ter) c.2054C>G (p.Ser685Ter) c.1958C>G (p.Ser653Ter)
6	g.43048464G>T	CA364220562	CUL7,KLC4	c.1931C>A (p.Ser644Ter) n.2214C>A c.2027C>A (p.Ser676Ter) n.2230C>A n.2265C>A c.423C>A c.-553+4956G>T (n.-553+4956G>T) c.2183C>A (p.Ser728Ter) c.2087C>A (p.Ser696Ter) c.-252C>A (n.-252C>A) c.2210C>A (p.Ser737Ter) c.2114C>A (p.Ser705Ter) c.2054C>A (p.Ser685Ter) c.1958C>A (p.Ser653Ter)
6	g.43048465A>C	CA364220565	CUL7,KLC4	c.1930T>G (p.Ser644Ala) n.2213T>G c.2026T>G (p.Ser676Ala) n.2229T>G n.2264T>G c.422T>G c.-553+4957A>C (n.-553+4957A>C) c.2182T>G (p.Ser728Ala) c.2086T>G (p.Ser696Ala) c.-253T>G (n.-253T>G) c.2209T>G (p.Ser737Ala) c.2113T>G (p.Ser705Ala) c.2053T>G (p.Ser685Ala) c.1957T>G (p.Ser653Ala)
6	g.43048465A>G	CA364220566	CUL7,KLC4	c.1930T>C (p.Ser644Pro) n.2213T>C c.2026T>C (p.Ser676Pro) n.2229T>C n.2264T>C c.422T>C c.-553+4957A>G (n.-553+4957A>G) c.2182T>C (p.Ser728Pro) c.2086T>C (p.Ser696Pro) c.-253T>C (n.-253T>C) c.2209T>C (p.Ser737Pro) c.2113T>C (p.Ser705Pro) c.2053T>C (p.Ser685Pro) c.1957T>C (p.Ser653Pro)
6	g.43048465A>T	CA364220570	CUL7,KLC4	c.1930T>A (p.Ser644Thr) n.2213T>A c.2026T>A (p.Ser676Thr) n.2229T>A n.2264T>A c.422T>A c.-553+4957A>T (n.-553+4957A>T) c.2182T>A (p.Ser728Thr) c.2086T>A (p.Ser696Thr) c.-253T>A (n.-253T>A) c.2209T>A (p.Ser737Thr) c.2113T>A (p.Ser705Thr) c.2053T>A (p.Ser685Thr) c.1957T>A (p.Ser653Thr)
6	g.43048466G>A	CA450261984	CUL7,KLC4	c.1929C>T (p.Ser643=) n.2212C>T c.2025C>T (p.Ser675=) n.2228C>T n.2263C>T c.421C>T c.-553+4958G>A (n.-553+4958G>A) c.2181C>T (p.Ser727=) c.2085C>T (p.Ser695=) c.-254C>T (n.-254C>T) c.2208C>T (p.Ser736=) c.2112C>T (p.Ser704=) c.2052C>T (p.Ser684=) c.1956C>T (p.Ser652=)	gnomAD v4
6	g.43048466G>C	CA3814039	CUL7,KLC4	c.1929C>G (p.Ser643Arg) n.2212C>G c.2025C>G (p.Ser675Arg) n.2228C>G n.2263C>G c.421C>G c.-553+4958G>C (n.-553+4958G>C) c.2181C>G (p.Ser727Arg) c.2085C>G (p.Ser695Arg) c.-254C>G (n.-254C>G) c.2208C>G (p.Ser736Arg) c.2112C>G (p.Ser704Arg) c.2052C>G (p.Ser684Arg) c.1956C>G (p.Ser652Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048466G=	CA1624357378	CUL7,KLC4	c.1929C= (p.Ser643=) n.2212C= c.2025C= (p.Ser675=) n.2228C= n.2263C= c.421C= c.-553+4958G= (n.-553+4958G=) c.2181C= (p.Ser727=) c.2085C= (p.Ser695=) c.-254C= (n.-254C=) c.2208C= (p.Ser736=) c.2112C= (p.Ser704=) c.2052C= (p.Ser684=) c.1956C= (p.Ser652=)
6	g.43048466G>T	CA364220575	CUL7,KLC4	c.1929C>A (p.Ser643Arg) n.2212C>A c.2025C>A (p.Ser675Arg) n.2228C>A n.2263C>A c.421C>A c.-553+4958G>T (n.-553+4958G>T) c.2181C>A (p.Ser727Arg) c.2085C>A (p.Ser695Arg) c.-254C>A (n.-254C>A) c.2208C>A (p.Ser736Arg) c.2112C>A (p.Ser704Arg) c.2052C>A (p.Ser684Arg) c.1956C>A (p.Ser652Arg)
6	g.43048467C>A	CA364220583	CUL7,KLC4	c.1928G>T (p.Ser643Ile) n.2211G>T c.2024G>T (p.Ser675Ile) n.2227G>T n.2262G>T c.420G>T c.-553+4959C>A (n.-553+4959C>A) c.2180G>T (p.Ser727Ile) c.2084G>T (p.Ser695Ile) c.-255G>T (n.-255G>T) c.2207G>T (p.Ser736Ile) c.2111G>T (p.Ser704Ile) c.2051G>T (p.Ser684Ile) c.1955G>T (p.Ser652Ile)
6	g.43048467C>G	CA364220580	CUL7,KLC4	c.1928G>C (p.Ser643Thr) n.2211G>C c.2024G>C (p.Ser675Thr) n.2227G>C n.2262G>C c.420G>C c.-553+4959C>G (n.-553+4959C>G) c.2180G>C (p.Ser727Thr) c.2084G>C (p.Ser695Thr) c.-255G>C (n.-255G>C) c.2207G>C (p.Ser736Thr) c.2111G>C (p.Ser704Thr) c.2051G>C (p.Ser684Thr) c.1955G>C (p.Ser652Thr)
6	g.43048467C>T	CA364220577	CUL7,KLC4	c.1928G>A (p.Ser643Asn) n.2211G>A c.2024G>A (p.Ser675Asn) n.2227G>A n.2262G>A c.420G>A c.-553+4959C>T (n.-553+4959C>T) c.2180G>A (p.Ser727Asn) c.2084G>A (p.Ser695Asn) c.-255G>A (n.-255G>A) c.2207G>A (p.Ser736Asn) c.2111G>A (p.Ser704Asn) c.2051G>A (p.Ser684Asn) c.1955G>A (p.Ser652Asn)	gnomAD v4
6	g.43048468T>A	CA364220586	CUL7,KLC4	c.1927A>T (p.Ser643Cys) n.2210A>T c.2023A>T (p.Ser675Cys) n.2226A>T n.2261A>T c.419A>T c.-553+4960T>A (n.-553+4960T>A) c.2179A>T (p.Ser727Cys) c.2083A>T (p.Ser695Cys) c.-256A>T (n.-256A>T) c.2206A>T (p.Ser736Cys) c.2110A>T (p.Ser704Cys) c.2050A>T (p.Ser684Cys) c.1954A>T (p.Ser652Cys)
6	g.43048468T>C	CA364220588	CUL7,KLC4	c.1927A>G (p.Ser643Gly) n.2210A>G c.2023A>G (p.Ser675Gly) n.2226A>G n.2261A>G c.419A>G c.-553+4960T>C (n.-553+4960T>C) c.2179A>G (p.Ser727Gly) c.2083A>G (p.Ser695Gly) c.-256A>G (n.-256A>G) c.2206A>G (p.Ser736Gly) c.2110A>G (p.Ser704Gly) c.2050A>G (p.Ser684Gly) c.1954A>G (p.Ser652Gly)	dbSNP gnomAD v4
6	g.43048468T>G	CA364220589	CUL7,KLC4	c.1927A>C (p.Ser643Arg) n.2210A>C c.2023A>C (p.Ser675Arg) n.2226A>C n.2261A>C c.419A>C c.-553+4960T>G (n.-553+4960T>G) c.2179A>C (p.Ser727Arg) c.2083A>C (p.Ser695Arg) c.-256A>C (n.-256A>C) c.2206A>C (p.Ser736Arg) c.2110A>C (p.Ser704Arg) c.2050A>C (p.Ser684Arg) c.1954A>C (p.Ser652Arg)
6	g.43048468T=	CA1624357379	CUL7,KLC4	c.1927A= (p.Ser643=) n.2210A= c.2023A= (p.Ser675=) n.2226A= n.2261A= c.419A= c.-553+4960T= (n.-553+4960T=) c.2179A= (p.Ser727=) c.2083A= (p.Ser695=) c.-256A= (n.-256A=) c.2206A= (p.Ser736=) c.2110A= (p.Ser704=) c.2050A= (p.Ser684=) c.1954A= (p.Ser652=)
6	g.43048468_43048482delinsTGAGGGCTTGCTCTA	CA1624357380	CUL7,KLC4	c.1913_1927delinsTAGAGCAAGCCCTCA (p.Leu638=) n.2196_2210delinsTAGAGCAAGCCCTCA c.2009_2023delinsTAGAGCAAGCCCTCA (p.Leu670=) n.2212_2226delinsTAGAGCAAGCCCTCA n.2247_2261delinsTAGAGCAAGCCCTCA c.405_419delinsTAGAGCAAGCCCTCA c.-553+4960_-553+4974delinsTGAGGGCTTGCTCTA (n.-553+4960_-553+4974delinsTGAGGGCTTGCTCTA) c.2165_2179delinsTAGAGCAAGCCCTCA (p.Leu722=) c.2069_2083delinsTAGAGCAAGCCCTCA (p.Leu690=) c.-270_-256delinsTAGAGCAAGCCCTCA (n.-270_-256delinsTAGAGCAAGCCCTCA) c.2192_2206delinsTAGAGCAAGCCCTCA (p.Leu731=) c.2096_2110delinsTAGAGCAAGCCCTCA (p.Leu699=) c.2036_2050delinsTAGAGCAAGCCCTCA (p.Leu679=) c.1940_1954delinsTAGAGCAAGCCCTCA (p.Leu647=)
6	g.43048469G>A	CA3814040	CUL7,KLC4	c.1926C>T (p.Leu642=) n.2209C>T c.2022C>T (p.Leu674=) n.2225C>T n.2260C>T c.418C>T c.-553+4961G>A (n.-553+4961G>A) c.2178C>T (p.Leu726=) c.2082C>T (p.Leu694=) c.-257C>T (n.-257C>T) c.2205C>T (p.Leu735=) c.2109C>T (p.Leu703=) c.2049C>T (p.Leu683=) c.1953C>T (p.Leu651=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048469G>C	CA450261994	CUL7,KLC4	c.1926C>G (p.Leu642=) n.2209C>G c.2022C>G (p.Leu674=) n.2225C>G n.2260C>G c.418C>G c.-553+4961G>C (n.-553+4961G>C) c.2178C>G (p.Leu726=) c.2082C>G (p.Leu694=) c.-257C>G (n.-257C>G) c.2205C>G (p.Leu735=) c.2109C>G (p.Leu703=) c.2049C>G (p.Leu683=) c.1953C>G (p.Leu651=)
6	g.43048469G=	CA1624357381	CUL7,KLC4	c.1926C= (p.Leu642=) n.2209C= c.2022C= (p.Leu674=) n.2225C= n.2260C= c.418C= c.-553+4961G= (n.-553+4961G=) c.2178C= (p.Leu726=) c.2082C= (p.Leu694=) c.-257C= (n.-257C=) c.2205C= (p.Leu735=) c.2109C= (p.Leu703=) c.2049C= (p.Leu683=) c.1953C= (p.Leu651=)
6	g.43048469G>T	CA450261992	CUL7,KLC4	c.1926C>A (p.Leu642=) n.2209C>A c.2022C>A (p.Leu674=) n.2225C>A n.2260C>A c.418C>A c.-553+4961G>T (n.-553+4961G>T) c.2178C>A (p.Leu726=) c.2082C>A (p.Leu694=) c.-257C>A (n.-257C>A) c.2205C>A (p.Leu735=) c.2109C>A (p.Leu703=) c.2049C>A (p.Leu683=) c.1953C>A (p.Leu651=)
6	g.43048471_43048484del	CA1624357382	CUL7,KLC4	c.1913_1926del (p.Leu638GlnfsTer?) n.2196_2209del c.2009_2022del (p.Leu670GlnfsTer?) n.2212_2225del n.2247_2260del c.405_418del c.-553+4963_-553+4976del (n.-553+4963_-553+4976del) c.2165_2178del (p.Leu722GlnfsTer?) c.2069_2082del (p.Leu690GlnfsTer?) c.-270_-257del (n.-270_-257del) c.2192_2205del (p.Leu731GlnfsTer?) c.2096_2109del (p.Leu699GlnfsTer?) c.2036_2049del (p.Leu679GlnfsTer?) c.1940_1953del (p.Leu647GlnfsTer?)	dbSNP
6	g.43048470A=	CA1624357383	CUL7,KLC4	c.1925T= (p.Leu642=) n.2208T= c.2021T= (p.Leu674=) n.2224T= n.2259T= c.417T= c.-553+4962A= (n.-553+4962A=) c.2177T= (p.Leu726=) c.2081T= (p.Leu694=) c.-258T= (n.-258T=) c.2204T= (p.Leu735=) c.2108T= (p.Leu703=) c.2048T= (p.Leu683=) c.1952T= (p.Leu651=)
6	g.43048470A>C	CA364220596	CUL7,KLC4	c.1925T>G (p.Leu642Arg) n.2208T>G c.2021T>G (p.Leu674Arg) n.2224T>G n.2259T>G c.417T>G c.-553+4962A>C (n.-553+4962A>C) c.2177T>G (p.Leu726Arg) c.2081T>G (p.Leu694Arg) c.-258T>G (n.-258T>G) c.2204T>G (p.Leu735Arg) c.2108T>G (p.Leu703Arg) c.2048T>G (p.Leu683Arg) c.1952T>G (p.Leu651Arg)
6	g.43048470A>G	CA364220597	CUL7,KLC4	c.1925T>C (p.Leu642Pro) n.2208T>C c.2021T>C (p.Leu674Pro) n.2224T>C n.2259T>C c.417T>C c.-553+4962A>G (n.-553+4962A>G) c.2177T>C (p.Leu726Pro) c.2081T>C (p.Leu694Pro) c.-258T>C (n.-258T>C) c.2204T>C (p.Leu735Pro) c.2108T>C (p.Leu703Pro) c.2048T>C (p.Leu683Pro) c.1952T>C (p.Leu651Pro)	dbSNP gnomAD v2 gnomAD v4
6	g.43048470A>T	CA364220600	CUL7,KLC4	c.1925T>A (p.Leu642His) n.2208T>A c.2021T>A (p.Leu674His) n.2224T>A n.2259T>A c.417T>A c.-553+4962A>T (n.-553+4962A>T) c.2177T>A (p.Leu726His) c.2081T>A (p.Leu694His) c.-258T>A (n.-258T>A) c.2204T>A (p.Leu735His) c.2108T>A (p.Leu703His) c.2048T>A (p.Leu683His) c.1952T>A (p.Leu651His)
6	g.43048471G>A	CA364220614	CUL7,KLC4	c.1924C>T (p.Leu642Phe) n.2207C>T c.2020C>T (p.Leu674Phe) n.2223C>T n.2258C>T c.416C>T c.-553+4963G>A (n.-553+4963G>A) c.2176C>T (p.Leu726Phe) c.2080C>T (p.Leu694Phe) c.-259C>T (n.-259C>T) c.2203C>T (p.Leu735Phe) c.2107C>T (p.Leu703Phe) c.2047C>T (p.Leu683Phe) c.1951C>T (p.Leu651Phe)	COSMIC COSMIC
6	g.43048471G>C	CA364220617	CUL7,KLC4	c.1924C>G (p.Leu642Val) n.2207C>G c.2020C>G (p.Leu674Val) n.2223C>G n.2258C>G c.416C>G c.-553+4963G>C (n.-553+4963G>C) c.2176C>G (p.Leu726Val) c.2080C>G (p.Leu694Val) c.-259C>G (n.-259C>G) c.2203C>G (p.Leu735Val) c.2107C>G (p.Leu703Val) c.2047C>G (p.Leu683Val) c.1951C>G (p.Leu651Val)
6	g.43048471G>T	CA364220620	CUL7,KLC4	c.1924C>A (p.Leu642Ile) n.2207C>A c.2020C>A (p.Leu674Ile) n.2223C>A n.2258C>A c.416C>A c.-553+4963G>T (n.-553+4963G>T) c.2176C>A (p.Leu726Ile) c.2080C>A (p.Leu694Ile) c.-259C>A (n.-259C>A) c.2203C>A (p.Leu735Ile) c.2107C>A (p.Leu703Ile) c.2047C>A (p.Leu683Ile) c.1951C>A (p.Leu651Ile)
6	g.43048472G>A	CA450261996	CUL7,KLC4	c.1923C>T (p.Ala641=) n.2206C>T c.2019C>T (p.Ala673=) n.2222C>T n.2257C>T c.415C>T c.-553+4964G>A (n.-553+4964G>A) c.2175C>T (p.Ala725=) c.2079C>T (p.Ala693=) c.-260C>T (n.-260C>T) c.2202C>T (p.Ala734=) c.2106C>T (p.Ala702=) c.2046C>T (p.Ala682=) c.1950C>T (p.Ala650=)
6	g.43048472G>C	CA450261998	CUL7,KLC4	c.1923C>G (p.Ala641=) n.2206C>G c.2019C>G (p.Ala673=) n.2222C>G n.2257C>G c.415C>G c.-553+4964G>C (n.-553+4964G>C) c.2175C>G (p.Ala725=) c.2079C>G (p.Ala693=) c.-260C>G (n.-260C>G) c.2202C>G (p.Ala734=) c.2106C>G (p.Ala702=) c.2046C>G (p.Ala682=) c.1950C>G (p.Ala650=)	gnomAD v4
6	g.43048472G>T	CA450261997	CUL7,KLC4	c.1923C>A (p.Ala641=) n.2206C>A c.2019C>A (p.Ala673=) n.2222C>A n.2257C>A c.415C>A c.-553+4964G>T (n.-553+4964G>T) c.2175C>A (p.Ala725=) c.2079C>A (p.Ala693=) c.-260C>A (n.-260C>A) c.2202C>A (p.Ala734=) c.2106C>A (p.Ala702=) c.2046C>A (p.Ala682=) c.1950C>A (p.Ala650=)	COSMIC COSMIC
6	g.43048473G>A	CA364220623	CUL7,KLC4	c.1922C>T (p.Ala641Val) n.2205C>T c.2018C>T (p.Ala673Val) n.2221C>T n.2256C>T c.414C>T c.-553+4965G>A (n.-553+4965G>A) c.2174C>T (p.Ala725Val) c.2078C>T (p.Ala693Val) c.-261C>T (n.-261C>T) c.2201C>T (p.Ala734Val) c.2105C>T (p.Ala702Val) c.2045C>T (p.Ala682Val) c.1949C>T (p.Ala650Val)	dbSNP gnomAD v2 gnomAD v4
6	g.43048473G>C	CA364220628	CUL7,KLC4	c.1922C>G (p.Ala641Gly) n.2205C>G c.2018C>G (p.Ala673Gly) n.2221C>G n.2256C>G c.414C>G c.-553+4965G>C (n.-553+4965G>C) c.2174C>G (p.Ala725Gly) c.2078C>G (p.Ala693Gly) c.-261C>G (n.-261C>G) c.2201C>G (p.Ala734Gly) c.2105C>G (p.Ala702Gly) c.2045C>G (p.Ala682Gly) c.1949C>G (p.Ala650Gly)
6	g.43048473G=	CA1624357384	CUL7,KLC4	c.1922C= (p.Ala641=) n.2205C= c.2018C= (p.Ala673=) n.2221C= n.2256C= c.414C= c.-553+4965G= (n.-553+4965G=) c.2174C= (p.Ala725=) c.2078C= (p.Ala693=) c.-261C= (n.-261C=) c.2201C= (p.Ala734=) c.2105C= (p.Ala702=) c.2045C= (p.Ala682=) c.1949C= (p.Ala650=)
6	g.43048473G>T	CA364220629	CUL7,KLC4	c.1922C>A (p.Ala641Asp) n.2205C>A c.2018C>A (p.Ala673Asp) n.2221C>A n.2256C>A c.414C>A c.-553+4965G>T (n.-553+4965G>T) c.2174C>A (p.Ala725Asp) c.2078C>A (p.Ala693Asp) c.-261C>A (n.-261C>A) c.2201C>A (p.Ala734Asp) c.2105C>A (p.Ala702Asp) c.2045C>A (p.Ala682Asp) c.1949C>A (p.Ala650Asp)
6	g.43048474C>A	CA364220632	CUL7,KLC4	c.1921G>T (p.Ala641Ser) n.2204G>T c.2017G>T (p.Ala673Ser) n.2220G>T n.2255G>T c.413G>T c.-553+4966C>A (n.-553+4966C>A) c.2173G>T (p.Ala725Ser) c.2077G>T (p.Ala693Ser) c.-262G>T (n.-262G>T) c.2200G>T (p.Ala734Ser) c.2104G>T (p.Ala702Ser) c.2044G>T (p.Ala682Ser) c.1948G>T (p.Ala650Ser)
6	g.43048474C=	CA1624357385	CUL7,KLC4	c.1921G= (p.Ala641=) n.2204G= c.2017G= (p.Ala673=) n.2220G= n.2255G= c.413G= c.-553+4966C= (n.-553+4966C=) c.2173G= (p.Ala725=) c.2077G= (p.Ala693=) c.-262G= (n.-262G=) c.2200G= (p.Ala734=) c.2104G= (p.Ala702=) c.2044G= (p.Ala682=) c.1948G= (p.Ala650=)
6	g.43048474C>G	CA364220636	CUL7,KLC4	c.1921G>C (p.Ala641Pro) n.2204G>C c.2017G>C (p.Ala673Pro) n.2220G>C n.2255G>C c.413G>C c.-553+4966C>G (n.-553+4966C>G) c.2173G>C (p.Ala725Pro) c.2077G>C (p.Ala693Pro) c.-262G>C (n.-262G>C) c.2200G>C (p.Ala734Pro) c.2104G>C (p.Ala702Pro) c.2044G>C (p.Ala682Pro) c.1948G>C (p.Ala650Pro)
6	g.43048474C>T	CA364220633	CUL7,KLC4	c.1921G>A (p.Ala641Thr) n.2204G>A c.2017G>A (p.Ala673Thr) n.2220G>A n.2255G>A c.413G>A c.-553+4966C>T (n.-553+4966C>T) c.2173G>A (p.Ala725Thr) c.2077G>A (p.Ala693Thr) c.-262G>A (n.-262G>A) c.2200G>A (p.Ala734Thr) c.2104G>A (p.Ala702Thr) c.2044G>A (p.Ala682Thr) c.1948G>A (p.Ala650Thr)	dbSNP gnomAD v4
6	g.43048475T>A	CA364220640	CUL7,KLC4	c.1920A>T (p.Gln640His) n.2203A>T c.2016A>T (p.Gln672His) n.2219A>T n.2254A>T c.412A>T c.-553+4967T>A (n.-553+4967T>A) c.2172A>T (p.Gln724His) c.2076A>T (p.Gln692His) c.-263A>T (n.-263A>T) c.2199A>T (p.Gln733His) c.2103A>T (p.Gln701His) c.2043A>T (p.Gln681His) c.1947A>T (p.Gln649His)
6	g.43048475T>C	CA450262000	CUL7,KLC4	c.1920A>G (p.Gln640=) n.2203A>G c.2016A>G (p.Gln672=) n.2219A>G n.2254A>G c.412A>G c.-553+4967T>C (n.-553+4967T>C) c.2172A>G (p.Gln724=) c.2076A>G (p.Gln692=) c.-263A>G (n.-263A>G) c.2199A>G (p.Gln733=) c.2103A>G (p.Gln701=) c.2043A>G (p.Gln681=) c.1947A>G (p.Gln649=)
6	g.43048475T>G	CA364220644	CUL7,KLC4	c.1920A>C (p.Gln640His) n.2203A>C c.2016A>C (p.Gln672His) n.2219A>C n.2254A>C c.412A>C c.-553+4967T>G (n.-553+4967T>G) c.2172A>C (p.Gln724His) c.2076A>C (p.Gln692His) c.-263A>C (n.-263A>C) c.2199A>C (p.Gln733His) c.2103A>C (p.Gln701His) c.2043A>C (p.Gln681His) c.1947A>C (p.Gln649His)
6	g.43048476T>A	CA138249285	CUL7,KLC4	c.1919A>T (p.Gln640Leu) n.2202A>T c.2015A>T (p.Gln672Leu) n.2218A>T n.2253A>T c.411A>T c.-553+4968T>A (n.-553+4968T>A) c.2171A>T (p.Gln724Leu) c.2075A>T (p.Gln692Leu) c.-264A>T (n.-264A>T) c.2198A>T (p.Gln733Leu) c.2102A>T (p.Gln701Leu) c.2042A>T (p.Gln681Leu) c.1946A>T (p.Gln649Leu)	dbSNP gnomAD v3 gnomAD v4
6	g.43048476T>C	CA364220650	CUL7,KLC4	c.1919A>G (p.Gln640Arg) n.2202A>G c.2015A>G (p.Gln672Arg) n.2218A>G n.2253A>G c.411A>G c.-553+4968T>C (n.-553+4968T>C) c.2171A>G (p.Gln724Arg) c.2075A>G (p.Gln692Arg) c.-264A>G (n.-264A>G) c.2198A>G (p.Gln733Arg) c.2102A>G (p.Gln701Arg) c.2042A>G (p.Gln681Arg) c.1946A>G (p.Gln649Arg)	dbSNP
6	g.43048476T>G	CA364220654	CUL7,KLC4	c.1919A>C (p.Gln640Pro) n.2202A>C c.2015A>C (p.Gln672Pro) n.2218A>C n.2253A>C c.411A>C c.-553+4968T>G (n.-553+4968T>G) c.2171A>C (p.Gln724Pro) c.2075A>C (p.Gln692Pro) c.-264A>C (n.-264A>C) c.2198A>C (p.Gln733Pro) c.2102A>C (p.Gln701Pro) c.2042A>C (p.Gln681Pro) c.1946A>C (p.Gln649Pro)
6	g.43048476T=	CA1624357386	CUL7,KLC4	c.1919A= (p.Gln640=) n.2202A= c.2015A= (p.Gln672=) n.2218A= n.2253A= c.411A= c.-553+4968T= (n.-553+4968T=) c.2171A= (p.Gln724=) c.2075A= (p.Gln692=) c.-264A= (n.-264A=) c.2198A= (p.Gln733=) c.2102A= (p.Gln701=) c.2042A= (p.Gln681=) c.1946A= (p.Gln649=)
6	g.43048477G>A	CA138249287	CUL7,KLC4	c.1918C>T (p.Gln640Ter) n.2201C>T c.2014C>T (p.Gln672Ter) n.2217C>T n.2252C>T c.410C>T c.-553+4969G>A (n.-553+4969G>A) c.2170C>T (p.Gln724Ter) c.2074C>T (p.Gln692Ter) c.-265C>T (n.-265C>T) c.2197C>T (p.Gln733Ter) c.2101C>T (p.Gln701Ter) c.2041C>T (p.Gln681Ter) c.1945C>T (p.Gln649Ter)	dbSNP gnomAD v3 gnomAD v4
6	g.43048477G>C	CA364220663	CUL7,KLC4	c.1918C>G (p.Gln640Glu) n.2201C>G c.2014C>G (p.Gln672Glu) n.2217C>G n.2252C>G c.410C>G c.-553+4969G>C (n.-553+4969G>C) c.2170C>G (p.Gln724Glu) c.2074C>G (p.Gln692Glu) c.-265C>G (n.-265C>G) c.2197C>G (p.Gln733Glu) c.2101C>G (p.Gln701Glu) c.2041C>G (p.Gln681Glu) c.1945C>G (p.Gln649Glu)
6	g.43048477G=	CA1624357387	CUL7,KLC4	c.1918C= (p.Gln640=) n.2201C= c.2014C= (p.Gln672=) n.2217C= n.2252C= c.410C= c.-553+4969G= (n.-553+4969G=) c.2170C= (p.Gln724=) c.2074C= (p.Gln692=) c.-265C= (n.-265C=) c.2197C= (p.Gln733=) c.2101C= (p.Gln701=) c.2041C= (p.Gln681=) c.1945C= (p.Gln649=)
6	g.43048477G>T	CA364220664	CUL7,KLC4	c.1918C>A (p.Gln640Lys) n.2201C>A c.2014C>A (p.Gln672Lys) n.2217C>A n.2252C>A c.410C>A c.-553+4969G>T (n.-553+4969G>T) c.2170C>A (p.Gln724Lys) c.2074C>A (p.Gln692Lys) c.-265C>A (n.-265C>A) c.2197C>A (p.Gln733Lys) c.2101C>A (p.Gln701Lys) c.2041C>A (p.Gln681Lys) c.1945C>A (p.Gln649Lys)
6	g.43048478C>A	CA364220666	CUL7,KLC4	c.1917G>T (p.Glu639Asp) n.2200G>T c.2013G>T (p.Glu671Asp) n.2216G>T n.2251G>T c.409G>T c.-553+4970C>A (n.-553+4970C>A) c.2169G>T (p.Glu723Asp) c.2073G>T (p.Glu691Asp) c.-266G>T (n.-266G>T) c.2196G>T (p.Glu732Asp) c.2100G>T (p.Glu700Asp) c.2040G>T (p.Glu680Asp) c.1944G>T (p.Glu648Asp)
6	g.43048478C>G	CA364220673	CUL7,KLC4	c.1917G>C (p.Glu639Asp) n.2200G>C c.2013G>C (p.Glu671Asp) n.2216G>C n.2251G>C c.409G>C c.-553+4970C>G (n.-553+4970C>G) c.2169G>C (p.Glu723Asp) c.2073G>C (p.Glu691Asp) c.-266G>C (n.-266G>C) c.2196G>C (p.Glu732Asp) c.2100G>C (p.Glu700Asp) c.2040G>C (p.Glu680Asp) c.1944G>C (p.Glu648Asp)
6	g.43048478C>T	CA450262003	CUL7,KLC4	c.1917G>A (p.Glu639=) n.2200G>A c.2013G>A (p.Glu671=) n.2216G>A n.2251G>A c.409G>A c.-553+4970C>T (n.-553+4970C>T) c.2169G>A (p.Glu723=) c.2073G>A (p.Glu691=) c.-266G>A (n.-266G>A) c.2196G>A (p.Glu732=) c.2100G>A (p.Glu700=) c.2040G>A (p.Glu680=) c.1944G>A (p.Glu648=)
6	g.43048479T>A	CA364220679	CUL7,KLC4	c.1916A>T (p.Glu639Val) n.2199A>T c.2012A>T (p.Glu671Val) n.2215A>T n.2250A>T c.408A>T c.-553+4971T>A (n.-553+4971T>A) c.2168A>T (p.Glu723Val) c.2072A>T (p.Glu691Val) c.-267A>T (n.-267A>T) c.2195A>T (p.Glu732Val) c.2099A>T (p.Glu700Val) c.2039A>T (p.Glu680Val) c.1943A>T (p.Glu648Val)
6	g.43048479T>C	CA364220683	CUL7,KLC4	c.1916A>G (p.Glu639Gly) n.2199A>G c.2012A>G (p.Glu671Gly) n.2215A>G n.2250A>G c.408A>G c.-553+4971T>C (n.-553+4971T>C) c.2168A>G (p.Glu723Gly) c.2072A>G (p.Glu691Gly) c.-267A>G (n.-267A>G) c.2195A>G (p.Glu732Gly) c.2099A>G (p.Glu700Gly) c.2039A>G (p.Glu680Gly) c.1943A>G (p.Glu648Gly)
6	g.43048479T>G	CA364220678	CUL7,KLC4	c.1916A>C (p.Glu639Ala) n.2199A>C c.2012A>C (p.Glu671Ala) n.2215A>C n.2250A>C c.408A>C c.-553+4971T>G (n.-553+4971T>G) c.2168A>C (p.Glu723Ala) c.2072A>C (p.Glu691Ala) c.-267A>C (n.-267A>C) c.2195A>C (p.Glu732Ala) c.2099A>C (p.Glu700Ala) c.2039A>C (p.Glu680Ala) c.1943A>C (p.Glu648Ala)
6	g.43048480C>A	CA364220694	CUL7,KLC4	c.1915G>T (p.Glu639Ter) n.2198G>T c.2011G>T (p.Glu671Ter) n.2214G>T n.2249G>T c.407G>T c.-553+4972C>A (n.-553+4972C>A) c.2167G>T (p.Glu723Ter) c.2071G>T (p.Glu691Ter) c.-268G>T (n.-268G>T) c.2194G>T (p.Glu732Ter) c.2098G>T (p.Glu700Ter) c.2038G>T (p.Glu680Ter) c.1942G>T (p.Glu648Ter)
6	g.43048480C>G	CA364220688	CUL7,KLC4	c.1915G>C (p.Glu639Gln) n.2198G>C c.2011G>C (p.Glu671Gln) n.2214G>C n.2249G>C c.407G>C c.-553+4972C>G (n.-553+4972C>G) c.2167G>C (p.Glu723Gln) c.2071G>C (p.Glu691Gln) c.-268G>C (n.-268G>C) c.2194G>C (p.Glu732Gln) c.2098G>C (p.Glu700Gln) c.2038G>C (p.Glu680Gln) c.1942G>C (p.Glu648Gln)
6	g.43048480C>T	CA364220692	CUL7,KLC4	c.1915G>A (p.Glu639Lys) n.2198G>A c.2011G>A (p.Glu671Lys) n.2214G>A n.2249G>A c.407G>A c.-553+4972C>T (n.-553+4972C>T) c.2167G>A (p.Glu723Lys) c.2071G>A (p.Glu691Lys) c.-268G>A (n.-268G>A) c.2194G>A (p.Glu732Lys) c.2098G>A (p.Glu700Lys) c.2038G>A (p.Glu680Lys) c.1942G>A (p.Glu648Lys)	gnomAD v4
6	g.43048481T>A	CA450262008	CUL7,KLC4	c.1914A>T (p.Leu638=) n.2197A>T c.2010A>T (p.Leu670=) n.2213A>T n.2248A>T c.406A>T c.-553+4973T>A (n.-553+4973T>A) c.2166A>T (p.Leu722=) c.2070A>T (p.Leu690=) c.-269A>T (n.-269A>T) c.2193A>T (p.Leu731=) c.2097A>T (p.Leu699=) c.2037A>T (p.Leu679=) c.1941A>T (p.Leu647=)
6	g.43048481T>C	CA450262011	CUL7,KLC4	c.1914A>G (p.Leu638=) n.2197A>G c.2010A>G (p.Leu670=) n.2213A>G n.2248A>G c.406A>G c.-553+4973T>C (n.-553+4973T>C) c.2166A>G (p.Leu722=) c.2070A>G (p.Leu690=) c.-269A>G (n.-269A>G) c.2193A>G (p.Leu731=) c.2097A>G (p.Leu699=) c.2037A>G (p.Leu679=) c.1941A>G (p.Leu647=)
6	g.43048481T>G	CA450262014	CUL7,KLC4	c.1914A>C (p.Leu638=) n.2197A>C c.2010A>C (p.Leu670=) n.2213A>C n.2248A>C c.406A>C c.-553+4973T>G (n.-553+4973T>G) c.2166A>C (p.Leu722=) c.2070A>C (p.Leu690=) c.-269A>C (n.-269A>C) c.2193A>C (p.Leu731=) c.2097A>C (p.Leu699=) c.2037A>C (p.Leu679=) c.1941A>C (p.Leu647=)
6	g.43048481_43048482delinsTA	CA1624357388	CUL7,KLC4	c.1913_1914delinsTA (p.Leu638=) n.2196_2197delinsTA c.2009_2010delinsTA (p.Leu670=) n.2212_2213delinsTA n.2247_2248delinsTA c.405_406delinsTA c.-553+4973_-553+4974delinsTA (n.-553+4973_-553+4974delinsTA) c.2165_2166delinsTA (p.Leu722=) c.2069_2070delinsTA (p.Leu690=) c.-270_-269delinsTA (n.-270_-269delinsTA) c.2192_2193delinsTA (p.Leu731=) c.2096_2097delinsTA (p.Leu699=) c.2036_2037delinsTA (p.Leu679=) c.1940_1941delinsTA (p.Leu647=)
6	g.43048482del	CA824872600	CUL7,KLC4	c.1913del (p.Leu638GlnfsTer?) n.2196del c.2009del (p.Leu670GlnfsTer?) n.2212del n.2247del c.405del c.-553+4974del (n.-553+4974del) c.2165del (p.Leu722GlnfsTer?) c.2069del (p.Leu690GlnfsTer?) c.-270del (n.-270del) c.2192del (p.Leu731GlnfsTer?) c.2096del (p.Leu699GlnfsTer?) c.2036del (p.Leu679GlnfsTer?) c.1940del (p.Leu647GlnfsTer?)	ClinVar dbSNP
6	g.43048482A=	CA1624357389	CUL7,KLC4	c.1913T= (p.Leu638=) n.2196T= c.2009T= (p.Leu670=) n.2212T= n.2247T= c.405T= c.-553+4974A= (n.-553+4974A=) c.2165T= (p.Leu722=) c.2069T= (p.Leu690=) c.-270T= (n.-270T=) c.2192T= (p.Leu731=) c.2096T= (p.Leu699=) c.2036T= (p.Leu679=) c.1940T= (p.Leu647=)
6	g.43048482A>C	CA3814041	CUL7,KLC4	c.1913T>G (p.Leu638Arg) n.2196T>G c.2009T>G (p.Leu670Arg) n.2212T>G n.2247T>G c.405T>G c.-553+4974A>C (n.-553+4974A>C) c.2165T>G (p.Leu722Arg) c.2069T>G (p.Leu690Arg) c.-270T>G (n.-270T>G) c.2192T>G (p.Leu731Arg) c.2096T>G (p.Leu699Arg) c.2036T>G (p.Leu679Arg) c.1940T>G (p.Leu647Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048482A>G	CA364220708	CUL7,KLC4	c.1913T>C (p.Leu638Pro) n.2196T>C c.2009T>C (p.Leu670Pro) n.2212T>C n.2247T>C c.405T>C c.-553+4974A>G (n.-553+4974A>G) c.2165T>C (p.Leu722Pro) c.2069T>C (p.Leu690Pro) c.-270T>C (n.-270T>C) c.2192T>C (p.Leu731Pro) c.2096T>C (p.Leu699Pro) c.2036T>C (p.Leu679Pro) c.1940T>C (p.Leu647Pro)
6	g.43048482A>T	CA364220711	CUL7,KLC4	c.1913T>A (p.Leu638Gln) n.2196T>A c.2009T>A (p.Leu670Gln) n.2212T>A n.2247T>A c.405T>A c.-553+4974A>T (n.-553+4974A>T) c.2165T>A (p.Leu722Gln) c.2069T>A (p.Leu690Gln) c.-270T>A (n.-270T>A) c.2192T>A (p.Leu731Gln) c.2096T>A (p.Leu699Gln) c.2036T>A (p.Leu679Gln) c.1940T>A (p.Leu647Gln)
6	g.43048483G>A	CA450262016	CUL7,KLC4	c.1912C>T (p.Leu638=) n.2195C>T c.2008C>T (p.Leu670=) n.2211C>T n.2246C>T c.404C>T c.-553+4975G>A (n.-553+4975G>A) c.2164C>T (p.Leu722=) c.2068C>T (p.Leu690=) c.-271C>T (n.-271C>T) c.2191C>T (p.Leu731=) c.2095C>T (p.Leu699=) c.2035C>T (p.Leu679=) c.1939C>T (p.Leu647=)
6	g.43048483G>C	CA364220719	CUL7,KLC4	c.1912C>G (p.Leu638Val) n.2195C>G c.2008C>G (p.Leu670Val) n.2211C>G n.2246C>G c.404C>G c.-553+4975G>C (n.-553+4975G>C) c.2164C>G (p.Leu722Val) c.2068C>G (p.Leu690Val) c.-271C>G (n.-271C>G) c.2191C>G (p.Leu731Val) c.2095C>G (p.Leu699Val) c.2035C>G (p.Leu679Val) c.1939C>G (p.Leu647Val)	dbSNP gnomAD v2
6	g.43048483G=	CA1624357390	CUL7,KLC4	c.1912C= (p.Leu638=) n.2195C= c.2008C= (p.Leu670=) n.2211C= n.2246C= c.404C= c.-553+4975G= (n.-553+4975G=) c.2164C= (p.Leu722=) c.2068C= (p.Leu690=) c.-271C= (n.-271C=) c.2191C= (p.Leu731=) c.2095C= (p.Leu699=) c.2035C= (p.Leu679=) c.1939C= (p.Leu647=)
6	g.43048483G>T	CA364220720	CUL7,KLC4	c.1912C>A (p.Leu638Ile) n.2195C>A c.2008C>A (p.Leu670Ile) n.2211C>A n.2246C>A c.404C>A c.-553+4975G>T (n.-553+4975G>T) c.2164C>A (p.Leu722Ile) c.2068C>A (p.Leu690Ile) c.-271C>A (n.-271C>A) c.2191C>A (p.Leu731Ile) c.2095C>A (p.Leu699Ile) c.2035C>A (p.Leu679Ile) c.1939C>A (p.Leu647Ile)
6	g.43048484A>C	CA364220723	CUL7,KLC4	c.1911T>G (p.Asp637Glu) n.2194T>G c.2007T>G (p.Asp669Glu) n.2210T>G n.2245T>G c.403T>G c.-553+4976A>C (n.-553+4976A>C) c.2163T>G (p.Asp721Glu) c.2067T>G (p.Asp689Glu) c.-272T>G (n.-272T>G) c.2190T>G (p.Asp730Glu) c.2094T>G (p.Asp698Glu) c.2034T>G (p.Asp678Glu) c.1938T>G (p.Asp646Glu)
6	g.43048484A>G	CA450262018	CUL7,KLC4	c.1911T>C (p.Asp637=) n.2194T>C c.2007T>C (p.Asp669=) n.2210T>C n.2245T>C c.403T>C c.-553+4976A>G (n.-553+4976A>G) c.2163T>C (p.Asp721=) c.2067T>C (p.Asp689=) c.-272T>C (n.-272T>C) c.2190T>C (p.Asp730=) c.2094T>C (p.Asp698=) c.2034T>C (p.Asp678=) c.1938T>C (p.Asp646=)
6	g.43048484A>T	CA364220726	CUL7,KLC4	c.1911T>A (p.Asp637Glu) n.2194T>A c.2007T>A (p.Asp669Glu) n.2210T>A n.2245T>A c.403T>A c.-553+4976A>T (n.-553+4976A>T) c.2163T>A (p.Asp721Glu) c.2067T>A (p.Asp689Glu) c.-272T>A (n.-272T>A) c.2190T>A (p.Asp730Glu) c.2094T>A (p.Asp698Glu) c.2034T>A (p.Asp678Glu) c.1938T>A (p.Asp646Glu)
6	g.43048485T>A	CA364220730	CUL7,KLC4	c.1910A>T (p.Asp637Val) n.2193A>T c.2006A>T (p.Asp669Val) n.2209A>T n.2244A>T c.402A>T c.-553+4977T>A (n.-553+4977T>A) c.2162A>T (p.Asp721Val) c.2066A>T (p.Asp689Val) c.-273A>T (n.-273A>T) c.2189A>T (p.Asp730Val) c.2093A>T (p.Asp698Val) c.2033A>T (p.Asp678Val) c.1937A>T (p.Asp646Val)
6	g.43048485T>C	CA364220735	CUL7,KLC4	c.1910A>G (p.Asp637Gly) n.2193A>G c.2006A>G (p.Asp669Gly) n.2209A>G n.2244A>G c.402A>G c.-553+4977T>C (n.-553+4977T>C) c.2162A>G (p.Asp721Gly) c.2066A>G (p.Asp689Gly) c.-273A>G (n.-273A>G) c.2189A>G (p.Asp730Gly) c.2093A>G (p.Asp698Gly) c.2033A>G (p.Asp678Gly) c.1937A>G (p.Asp646Gly)	gnomAD v4
6	g.43048485T>G	CA364220738	CUL7,KLC4	c.1910A>C (p.Asp637Ala) n.2193A>C c.2006A>C (p.Asp669Ala) n.2209A>C n.2244A>C c.402A>C c.-553+4977T>G (n.-553+4977T>G) c.2162A>C (p.Asp721Ala) c.2066A>C (p.Asp689Ala) c.-273A>C (n.-273A>C) c.2189A>C (p.Asp730Ala) c.2093A>C (p.Asp698Ala) c.2033A>C (p.Asp678Ala) c.1937A>C (p.Asp646Ala)
6	g.43048485_43048488delinsTCCA	CA1624357391	CUL7,KLC4	c.1907_1910delinsTGGA (p.Leu636=) n.2190_2193delinsTGGA c.2003_2006delinsTGGA (p.Leu668=) n.2206_2209delinsTGGA n.2241_2244delinsTGGA c.399_402delinsTGGA c.-553+4977_-553+4980delinsTCCA (n.-553+4977_-553+4980delinsTCCA) c.2159_2162delinsTGGA (p.Leu720=) c.2063_2066delinsTGGA (p.Leu688=) c.-276_-273delinsTGGA (n.-276_-273delinsTGGA) c.2186_2189delinsTGGA (p.Leu729=) c.2090_2093delinsTGGA (p.Leu697=) c.2030_2033delinsTGGA (p.Leu677=) c.1934_1937delinsTGGA (p.Leu645=)
6	g.43048486C>A	CA364220747	CUL7,KLC4	c.1909G>T (p.Asp637Tyr) n.2192G>T c.2005G>T (p.Asp669Tyr) n.2208G>T n.2243G>T c.401G>T c.-553+4978C>A (n.-553+4978C>A) c.2161G>T (p.Asp721Tyr) c.2065G>T (p.Asp689Tyr) c.-274G>T (n.-274G>T) c.2188G>T (p.Asp730Tyr) c.2092G>T (p.Asp698Tyr) c.2032G>T (p.Asp678Tyr) c.1936G>T (p.Asp646Tyr)	dbSNP
6	g.43048486C=	CA1624357393	CUL7,KLC4	c.1909G= (p.Asp637=) n.2192G= c.2005G= (p.Asp669=) n.2208G= n.2243G= c.401G= c.-553+4978C= (n.-553+4978C=) c.2161G= (p.Asp721=) c.2065G= (p.Asp689=) c.-274G= (n.-274G=) c.2188G= (p.Asp730=) c.2092G= (p.Asp698=) c.2032G= (p.Asp678=) c.1936G= (p.Asp646=)
6	g.43048486C>G	CA364220744	CUL7,KLC4	c.1909G>C (p.Asp637His) n.2192G>C c.2005G>C (p.Asp669His) n.2208G>C n.2243G>C c.401G>C c.-553+4978C>G (n.-553+4978C>G) c.2161G>C (p.Asp721His) c.2065G>C (p.Asp689His) c.-274G>C (n.-274G>C) c.2188G>C (p.Asp730His) c.2092G>C (p.Asp698His) c.2032G>C (p.Asp678His) c.1936G>C (p.Asp646His)
6	g.43048486C>T	CA364220741	CUL7,KLC4	c.1909G>A (p.Asp637Asn) n.2192G>A c.2005G>A (p.Asp669Asn) n.2208G>A n.2243G>A c.401G>A c.-553+4978C>T (n.-553+4978C>T) c.2161G>A (p.Asp721Asn) c.2065G>A (p.Asp689Asn) c.-274G>A (n.-274G>A) c.2188G>A (p.Asp730Asn) c.2092G>A (p.Asp698Asn) c.2032G>A (p.Asp678Asn) c.1936G>A (p.Asp646Asn)
6	g.43048486_43048488del	CA1624357392	CUL7,KLC4	c.1907_1909del (p.Leu636_Asp637delinsHis) n.2190_2192del c.2003_2005del (p.Leu668_Asp669delinsHis) n.2206_2208del n.2241_2243del c.399_401del c.-553+4978_-553+4980del (n.-553+4978_-553+4980del) c.2159_2161del (p.Leu720_Asp721delinsHis) c.2063_2065del (p.Leu688_Asp689delinsHis) c.-276_-274del (n.-276_-274del) c.2186_2188del (p.Leu729_Asp730delinsHis) c.2090_2092del (p.Leu697_Asp698delinsHis) c.2030_2032del (p.Leu677_Asp678delinsHis) c.1934_1936del (p.Leu645_Asp646delinsHis)	dbSNP
6	g.43048487C>A	CA450262026	CUL7,KLC4	c.1908G>T (p.Leu636=) n.2191G>T c.2004G>T (p.Leu668=) n.2207G>T n.2242G>T c.400G>T c.-553+4979C>A (n.-553+4979C>A) c.2160G>T (p.Leu720=) c.2064G>T (p.Leu688=) c.-275G>T (n.-275G>T) c.2187G>T (p.Leu729=) c.2091G>T (p.Leu697=) c.2031G>T (p.Leu677=) c.1935G>T (p.Leu645=)
6	g.43048487C>G	CA450262027	CUL7,KLC4	c.1908G>C (p.Leu636=) n.2191G>C c.2004G>C (p.Leu668=) n.2207G>C n.2242G>C c.400G>C c.-553+4979C>G (n.-553+4979C>G) c.2160G>C (p.Leu720=) c.2064G>C (p.Leu688=) c.-275G>C (n.-275G>C) c.2187G>C (p.Leu729=) c.2091G>C (p.Leu697=) c.2031G>C (p.Leu677=) c.1935G>C (p.Leu645=)
6	g.43048487C>T	CA450262029	CUL7,KLC4	c.1908G>A (p.Leu636=) n.2191G>A c.2004G>A (p.Leu668=) n.2207G>A n.2242G>A c.400G>A c.-553+4979C>T (n.-553+4979C>T) c.2160G>A (p.Leu720=) c.2064G>A (p.Leu688=) c.-275G>A (n.-275G>A) c.2187G>A (p.Leu729=) c.2091G>A (p.Leu697=) c.2031G>A (p.Leu677=) c.1935G>A (p.Leu645=)	gnomAD v4
6	g.43048487_43048490delinsCAGG	CA1624357394	CUL7,KLC4	c.1905_1908delinsCCTG (p.Leu635=) n.2188_2191delinsCCTG c.2001_2004delinsCCTG (p.Leu667=) n.2204_2207delinsCCTG n.2239_2242delinsCCTG c.397_400delinsCCTG c.-553+4979_-553+4982delinsCAGG (n.-553+4979_-553+4982delinsCAGG) c.2157_2160delinsCCTG (p.Leu719=) c.2061_2064delinsCCTG (p.Leu687=) c.-278_-275delinsCCTG (n.-278_-275delinsCCTG) c.2184_2187delinsCCTG (p.Leu728=) c.2088_2091delinsCCTG (p.Leu696=) c.2028_2031delinsCCTG (p.Leu676=) c.1932_1935delinsCCTG (p.Leu644=)
6	g.43048488A=	CA1624357395	CUL7,KLC4	c.1907T= (p.Leu636=) n.2190T= c.2003T= (p.Leu668=) n.2206T= n.2241T= c.399T= c.-553+4980A= (n.-553+4980A=) c.2159T= (p.Leu720=) c.2063T= (p.Leu688=) c.-276T= (n.-276T=) c.2186T= (p.Leu729=) c.2090T= (p.Leu697=) c.2030T= (p.Leu677=) c.1934T= (p.Leu645=)
6	g.43048488A>C	CA364220748	CUL7,KLC4	c.1907T>G (p.Leu636Arg) n.2190T>G c.2003T>G (p.Leu668Arg) n.2206T>G n.2241T>G c.399T>G c.-553+4980A>C (n.-553+4980A>C) c.2159T>G (p.Leu720Arg) c.2063T>G (p.Leu688Arg) c.-276T>G (n.-276T>G) c.2186T>G (p.Leu729Arg) c.2090T>G (p.Leu697Arg) c.2030T>G (p.Leu677Arg) c.1934T>G (p.Leu645Arg)
6	g.43048488A>G	CA138249290	CUL7,KLC4	c.1907T>C (p.Leu636Pro) n.2190T>C c.2003T>C (p.Leu668Pro) n.2206T>C n.2241T>C c.399T>C c.-553+4980A>G (n.-553+4980A>G) c.2159T>C (p.Leu720Pro) c.2063T>C (p.Leu688Pro) c.-276T>C (n.-276T>C) c.2186T>C (p.Leu729Pro) c.2090T>C (p.Leu697Pro) c.2030T>C (p.Leu677Pro) c.1934T>C (p.Leu645Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.43048488A>T	CA364220749	CUL7,KLC4	c.1907T>A (p.Leu636Gln) n.2190T>A c.2003T>A (p.Leu668Gln) n.2206T>A n.2241T>A c.399T>A c.-553+4980A>T (n.-553+4980A>T) c.2159T>A (p.Leu720Gln) c.2063T>A (p.Leu688Gln) c.-276T>A (n.-276T>A) c.2186T>A (p.Leu729Gln) c.2090T>A (p.Leu697Gln) c.2030T>A (p.Leu677Gln) c.1934T>A (p.Leu645Gln)
6	g.43048492_43048494del	CA567150904	CUL7,KLC4	c.1905_1907del (p.Leu636del) n.2188_2190del c.2001_2003del (p.Leu668del) n.2204_2206del n.2239_2241del c.397_399del c.-553+4984_-553+4986del (n.-553+4984_-553+4986del) c.2157_2159del (p.Leu720del) c.2061_2063del (p.Leu688del) c.-278_-276del (n.-278_-276del) c.2184_2186del (p.Leu729del) c.2088_2090del (p.Leu697del) c.2028_2030del (p.Leu677del) c.1932_1934del (p.Leu645del)	dbSNP gnomAD v2 gnomAD v4
6	g.43048489G>A	CA450262032	CUL7,KLC4	c.1906C>T (p.Leu636=) n.2189C>T c.2002C>T (p.Leu668=) n.2205C>T n.2240C>T c.398C>T c.-553+4981G>A (n.-553+4981G>A) c.2158C>T (p.Leu720=) c.2062C>T (p.Leu688=) c.-277C>T (n.-277C>T) c.2185C>T (p.Leu729=) c.2089C>T (p.Leu697=) c.2029C>T (p.Leu677=) c.1933C>T (p.Leu645=)	dbSNP gnomAD v2 gnomAD v4
6	g.43048489G>C	CA364220750	CUL7,KLC4	c.1906C>G (p.Leu636Val) n.2189C>G c.2002C>G (p.Leu668Val) n.2205C>G n.2240C>G c.398C>G c.-553+4981G>C (n.-553+4981G>C) c.2158C>G (p.Leu720Val) c.2062C>G (p.Leu688Val) c.-277C>G (n.-277C>G) c.2185C>G (p.Leu729Val) c.2089C>G (p.Leu697Val) c.2029C>G (p.Leu677Val) c.1933C>G (p.Leu645Val)	dbSNP
6	g.43048489G=	CA1624357396	CUL7,KLC4	c.1906C= (p.Leu636=) n.2189C= c.2002C= (p.Leu668=) n.2205C= n.2240C= c.398C= c.-553+4981G= (n.-553+4981G=) c.2158C= (p.Leu720=) c.2062C= (p.Leu688=) c.-277C= (n.-277C=) c.2185C= (p.Leu729=) c.2089C= (p.Leu697=) c.2029C= (p.Leu677=) c.1933C= (p.Leu645=)
6	g.43048489G>T	CA364220752	CUL7,KLC4	c.1906C>A (p.Leu636Met) n.2189C>A c.2002C>A (p.Leu668Met) n.2205C>A n.2240C>A c.398C>A c.-553+4981G>T (n.-553+4981G>T) c.2158C>A (p.Leu720Met) c.2062C>A (p.Leu688Met) c.-277C>A (n.-277C>A) c.2185C>A (p.Leu729Met) c.2089C>A (p.Leu697Met) c.2029C>A (p.Leu677Met) c.1933C>A (p.Leu645Met)
6	g.43048490G>A	CA450262035	CUL7,KLC4	c.1905C>T (p.Leu635=) n.2188C>T c.2001C>T (p.Leu667=) n.2204C>T n.2239C>T c.397C>T c.-553+4982G>A (n.-553+4982G>A) c.2157C>T (p.Leu719=) c.2061C>T (p.Leu687=) c.-278C>T (n.-278C>T) c.2184C>T (p.Leu728=) c.2088C>T (p.Leu696=) c.2028C>T (p.Leu676=) c.1932C>T (p.Leu644=)	dbSNP gnomAD v3 gnomAD v4
6	g.43048490G>C	CA450262036	CUL7,KLC4	c.1905C>G (p.Leu635=) n.2188C>G c.2001C>G (p.Leu667=) n.2204C>G n.2239C>G c.397C>G c.-553+4982G>C (n.-553+4982G>C) c.2157C>G (p.Leu719=) c.2061C>G (p.Leu687=) c.-278C>G (n.-278C>G) c.2184C>G (p.Leu728=) c.2088C>G (p.Leu696=) c.2028C>G (p.Leu676=) c.1932C>G (p.Leu644=)	dbSNP
6	g.43048490G=	CA1624357397	CUL7,KLC4	c.1905C= (p.Leu635=) n.2188C= c.2001C= (p.Leu667=) n.2204C= n.2239C= c.397C= c.-553+4982G= (n.-553+4982G=) c.2157C= (p.Leu719=) c.2061C= (p.Leu687=) c.-278C= (n.-278C=) c.2184C= (p.Leu728=) c.2088C= (p.Leu696=) c.2028C= (p.Leu676=) c.1932C= (p.Leu644=)
6	g.43048490G>T	CA450262038	CUL7,KLC4	c.1905C>A (p.Leu635=) n.2188C>A c.2001C>A (p.Leu667=) n.2204C>A n.2239C>A c.397C>A c.-553+4982G>T (n.-553+4982G>T) c.2157C>A (p.Leu719=) c.2061C>A (p.Leu687=) c.-278C>A (n.-278C>A) c.2184C>A (p.Leu728=) c.2088C>A (p.Leu696=) c.2028C>A (p.Leu676=) c.1932C>A (p.Leu644=)
6	g.43048491A>C	CA364220753	CUL7,KLC4	c.1904T>G (p.Leu635Arg) n.2187T>G c.2000T>G (p.Leu667Arg) n.2203T>G n.2238T>G c.396T>G c.-553+4983A>C (n.-553+4983A>C) c.2156T>G (p.Leu719Arg) c.2060T>G (p.Leu687Arg) c.-279T>G (n.-279T>G) c.2183T>G (p.Leu728Arg) c.2087T>G (p.Leu696Arg) c.2027T>G (p.Leu676Arg) c.1931T>G (p.Leu644Arg)
6	g.43048491A>G	CA364220755	CUL7,KLC4	c.1904T>C (p.Leu635Pro) n.2187T>C c.2000T>C (p.Leu667Pro) n.2203T>C n.2238T>C c.396T>C c.-553+4983A>G (n.-553+4983A>G) c.2156T>C (p.Leu719Pro) c.2060T>C (p.Leu687Pro) c.-279T>C (n.-279T>C) c.2183T>C (p.Leu728Pro) c.2087T>C (p.Leu696Pro) c.2027T>C (p.Leu676Pro) c.1931T>C (p.Leu644Pro)
6	g.43048491A>T	CA364220760	CUL7,KLC4	c.1904T>A (p.Leu635His) n.2187T>A c.2000T>A (p.Leu667His) n.2203T>A n.2238T>A c.396T>A c.-553+4983A>T (n.-553+4983A>T) c.2156T>A (p.Leu719His) c.2060T>A (p.Leu687His) c.-279T>A (n.-279T>A) c.2183T>A (p.Leu728His) c.2087T>A (p.Leu696His) c.2027T>A (p.Leu676His) c.1931T>A (p.Leu644His)
6	g.43048492G>A	CA364220770	CUL7,KLC4	c.1903C>T (p.Leu635Phe) n.2186C>T c.1999C>T (p.Leu667Phe) n.2202C>T n.2237C>T c.395C>T c.-553+4984G>A (n.-553+4984G>A) c.2155C>T (p.Leu719Phe) c.2059C>T (p.Leu687Phe) c.-280C>T (n.-280C>T) c.2182C>T (p.Leu728Phe) c.2086C>T (p.Leu696Phe) c.2026C>T (p.Leu676Phe) c.1930C>T (p.Leu644Phe)	dbSNP gnomAD v4
6	g.43048492G>C	CA364220771	CUL7,KLC4	c.1903C>G (p.Leu635Val) n.2186C>G c.1999C>G (p.Leu667Val) n.2202C>G n.2237C>G c.395C>G c.-553+4984G>C (n.-553+4984G>C) c.2155C>G (p.Leu719Val) c.2059C>G (p.Leu687Val) c.-280C>G (n.-280C>G) c.2182C>G (p.Leu728Val) c.2086C>G (p.Leu696Val) c.2026C>G (p.Leu676Val) c.1930C>G (p.Leu644Val)
6	g.43048492G=	CA1624357398	CUL7,KLC4	c.1903C= (p.Leu635=) n.2186C= c.1999C= (p.Leu667=) n.2202C= n.2237C= c.395C= c.-553+4984G= (n.-553+4984G=) c.2155C= (p.Leu719=) c.2059C= (p.Leu687=) c.-280C= (n.-280C=) c.2182C= (p.Leu728=) c.2086C= (p.Leu696=) c.2026C= (p.Leu676=) c.1930C= (p.Leu644=)
6	g.43048492G>T	CA364220773	CUL7,KLC4	c.1903C>A (p.Leu635Ile) n.2186C>A c.1999C>A (p.Leu667Ile) n.2202C>A n.2237C>A c.395C>A c.-553+4984G>T (n.-553+4984G>T) c.2155C>A (p.Leu719Ile) c.2059C>A (p.Leu687Ile) c.-280C>A (n.-280C>A) c.2182C>A (p.Leu728Ile) c.2086C>A (p.Leu696Ile) c.2026C>A (p.Leu676Ile) c.1930C>A (p.Leu644Ile)	COSMIC COSMIC
6	g.43048493G>A	CA450262047	CUL7,KLC4	c.1902C>T (p.Ile634=) n.2185C>T c.1998C>T (p.Ile666=) n.2201C>T n.2236C>T c.394C>T c.-553+4985G>A (n.-553+4985G>A) c.2154C>T (p.Ile718=) c.2058C>T (p.Ile686=) c.-281C>T (n.-281C>T) c.2181C>T (p.Ile727=) c.2085C>T (p.Ile695=) c.2025C>T (p.Ile675=) c.1929C>T (p.Ile643=)
6	g.43048493G>C	CA364220774	CUL7,KLC4	c.1902C>G (p.Ile634Met) n.2185C>G c.1998C>G (p.Ile666Met) n.2201C>G n.2236C>G c.394C>G c.-553+4985G>C (n.-553+4985G>C) c.2154C>G (p.Ile718Met) c.2058C>G (p.Ile686Met) c.-281C>G (n.-281C>G) c.2181C>G (p.Ile727Met) c.2085C>G (p.Ile695Met) c.2025C>G (p.Ile675Met) c.1929C>G (p.Ile643Met)
6	g.43048493G>T	CA450262044	CUL7,KLC4	c.1902C>A (p.Ile634=) n.2185C>A c.1998C>A (p.Ile666=) n.2201C>A n.2236C>A c.394C>A c.-553+4985G>T (n.-553+4985G>T) c.2154C>A (p.Ile718=) c.2058C>A (p.Ile686=) c.-281C>A (n.-281C>A) c.2181C>A (p.Ile727=) c.2085C>A (p.Ile695=) c.2025C>A (p.Ile675=) c.1929C>A (p.Ile643=)
6	g.43048494A>C	CA364220779	CUL7,KLC4	c.1901T>G (p.Ile634Ser) n.2184T>G c.1997T>G (p.Ile666Ser) n.2200T>G n.2235T>G c.393T>G c.-553+4986A>C (n.-553+4986A>C) c.2153T>G (p.Ile718Ser) c.2057T>G (p.Ile686Ser) c.-282T>G (n.-282T>G) c.2180T>G (p.Ile727Ser) c.2084T>G (p.Ile695Ser) c.2024T>G (p.Ile675Ser) c.1928T>G (p.Ile643Ser)
6	g.43048494A>G	CA364220778	CUL7,KLC4	c.1901T>C (p.Ile634Thr) n.2184T>C c.1997T>C (p.Ile666Thr) n.2200T>C n.2235T>C c.393T>C c.-553+4986A>G (n.-553+4986A>G) c.2153T>C (p.Ile718Thr) c.2057T>C (p.Ile686Thr) c.-282T>C (n.-282T>C) c.2180T>C (p.Ile727Thr) c.2084T>C (p.Ile695Thr) c.2024T>C (p.Ile675Thr) c.1928T>C (p.Ile643Thr)
6	g.43048494A>T	CA364220777	CUL7,KLC4	c.1901T>A (p.Ile634Asn) n.2184T>A c.1997T>A (p.Ile666Asn) n.2200T>A n.2235T>A c.393T>A c.-553+4986A>T (n.-553+4986A>T) c.2153T>A (p.Ile718Asn) c.2057T>A (p.Ile686Asn) c.-282T>A (n.-282T>A) c.2180T>A (p.Ile727Asn) c.2084T>A (p.Ile695Asn) c.2024T>A (p.Ile675Asn) c.1928T>A (p.Ile643Asn)
6	g.43048495T>A	CA364220780	CUL7,KLC4	c.1900A>T (p.Ile634Phe) n.2183A>T c.1996A>T (p.Ile666Phe) n.2199A>T n.2234A>T c.392A>T c.-553+4987T>A (n.-553+4987T>A) c.2152A>T (p.Ile718Phe) c.2056A>T (p.Ile686Phe) c.-283A>T (n.-283A>T) c.2179A>T (p.Ile727Phe) c.2083A>T (p.Ile695Phe) c.2023A>T (p.Ile675Phe) c.1927A>T (p.Ile643Phe)	gnomAD v4
6	g.43048495T>C	CA364220781	CUL7,KLC4	c.1900A>G (p.Ile634Val) n.2183A>G c.1996A>G (p.Ile666Val) n.2199A>G n.2234A>G c.392A>G c.-553+4987T>C (n.-553+4987T>C) c.2152A>G (p.Ile718Val) c.2056A>G (p.Ile686Val) c.-283A>G (n.-283A>G) c.2179A>G (p.Ile727Val) c.2083A>G (p.Ile695Val) c.2023A>G (p.Ile675Val) c.1927A>G (p.Ile643Val)
6	g.43048495T>G	CA364220784	CUL7,KLC4	c.1900A>C (p.Ile634Leu) n.2183A>C c.1996A>C (p.Ile666Leu) n.2199A>C n.2234A>C c.392A>C c.-553+4987T>G (n.-553+4987T>G) c.2152A>C (p.Ile718Leu) c.2056A>C (p.Ile686Leu) c.-283A>C (n.-283A>C) c.2179A>C (p.Ile727Leu) c.2083A>C (p.Ile695Leu) c.2023A>C (p.Ile675Leu) c.1927A>C (p.Ile643Leu)
6	g.43048496T>A	CA364220798	CUL7,KLC4	c.1899A>T (p.Lys633Asn) n.2182A>T c.1995A>T (p.Lys665Asn) n.2198A>T n.2233A>T c.391A>T c.-553+4988T>A (n.-553+4988T>A) c.2151A>T (p.Lys717Asn) c.2055A>T (p.Lys685Asn) c.-284A>T (n.-284A>T) c.2178A>T (p.Lys726Asn) c.2082A>T (p.Lys694Asn) c.2022A>T (p.Lys674Asn) c.1926A>T (p.Lys642Asn)
6	g.43048496T>C	CA450262050	CUL7,KLC4	c.1899A>G (p.Lys633=) n.2182A>G c.1995A>G (p.Lys665=) n.2198A>G n.2233A>G c.391A>G c.-553+4988T>C (n.-553+4988T>C) c.2151A>G (p.Lys717=) c.2055A>G (p.Lys685=) c.-284A>G (n.-284A>G) c.2178A>G (p.Lys726=) c.2082A>G (p.Lys694=) c.2022A>G (p.Lys674=) c.1926A>G (p.Lys642=)
6	g.43048496T>G	CA364220800	CUL7,KLC4	c.1899A>C (p.Lys633Asn) n.2182A>C c.1995A>C (p.Lys665Asn) n.2198A>C n.2233A>C c.391A>C c.-553+4988T>G (n.-553+4988T>G) c.2151A>C (p.Lys717Asn) c.2055A>C (p.Lys685Asn) c.-284A>C (n.-284A>C) c.2178A>C (p.Lys726Asn) c.2082A>C (p.Lys694Asn) c.2022A>C (p.Lys674Asn) c.1926A>C (p.Lys642Asn)
6	g.43048497T>A	CA364220807	CUL7,KLC4	c.1898A>T (p.Lys633Ile) n.2181A>T c.1994A>T (p.Lys665Ile) n.2197A>T n.2232A>T c.390A>T c.-553+4989T>A (n.-553+4989T>A) c.2150A>T (p.Lys717Ile) c.2054A>T (p.Lys685Ile) c.-285A>T (n.-285A>T) c.2177A>T (p.Lys726Ile) c.2081A>T (p.Lys694Ile) c.2021A>T (p.Lys674Ile) c.1925A>T (p.Lys642Ile)
6	g.43048497T>C	CA3814042	CUL7,KLC4	c.1898A>G (p.Lys633Arg) n.2181A>G c.1994A>G (p.Lys665Arg) n.2197A>G n.2232A>G c.390A>G c.-553+4989T>C (n.-553+4989T>C) c.2150A>G (p.Lys717Arg) c.2054A>G (p.Lys685Arg) c.-285A>G (n.-285A>G) c.2177A>G (p.Lys726Arg) c.2081A>G (p.Lys694Arg) c.2021A>G (p.Lys674Arg) c.1925A>G (p.Lys642Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048497T>G	CA364220805	CUL7,KLC4	c.1898A>C (p.Lys633Thr) n.2181A>C c.1994A>C (p.Lys665Thr) n.2197A>C n.2232A>C c.390A>C c.-553+4989T>G (n.-553+4989T>G) c.2150A>C (p.Lys717Thr) c.2054A>C (p.Lys685Thr) c.-285A>C (n.-285A>C) c.2177A>C (p.Lys726Thr) c.2081A>C (p.Lys694Thr) c.2021A>C (p.Lys674Thr) c.1925A>C (p.Lys642Thr)
6	g.43048497T=	CA1624357399	CUL7,KLC4	c.1898A= (p.Lys633=) n.2181A= c.1994A= (p.Lys665=) n.2197A= n.2232A= c.390A= c.-553+4989T= (n.-553+4989T=) c.2150A= (p.Lys717=) c.2054A= (p.Lys685=) c.-285A= (n.-285A=) c.2177A= (p.Lys726=) c.2081A= (p.Lys694=) c.2021A= (p.Lys674=) c.1925A= (p.Lys642=)
6	g.43048498T>A	CA364220810	CUL7,KLC4	c.1897A>T (p.Lys633Ter) n.2180A>T c.1993A>T (p.Lys665Ter) n.2196A>T n.2231A>T c.389A>T c.-553+4990T>A (n.-553+4990T>A) c.2149A>T (p.Lys717Ter) c.2053A>T (p.Lys685Ter) c.-286A>T (n.-286A>T) c.2176A>T (p.Lys726Ter) c.2080A>T (p.Lys694Ter) c.2020A>T (p.Lys674Ter) c.1924A>T (p.Lys642Ter)
6	g.43048498T>C	CA364220812	CUL7,KLC4	c.1897A>G (p.Lys633Glu) n.2180A>G c.1993A>G (p.Lys665Glu) n.2196A>G n.2231A>G c.389A>G c.-553+4990T>C (n.-553+4990T>C) c.2149A>G (p.Lys717Glu) c.2053A>G (p.Lys685Glu) c.-286A>G (n.-286A>G) c.2176A>G (p.Lys726Glu) c.2080A>G (p.Lys694Glu) c.2020A>G (p.Lys674Glu) c.1924A>G (p.Lys642Glu)
6	g.43048498T>G	CA364220814	CUL7,KLC4	c.1897A>C (p.Lys633Gln) n.2180A>C c.1993A>C (p.Lys665Gln) n.2196A>C n.2231A>C c.389A>C c.-553+4990T>G (n.-553+4990T>G) c.2149A>C (p.Lys717Gln) c.2053A>C (p.Lys685Gln) c.-286A>C (n.-286A>C) c.2176A>C (p.Lys726Gln) c.2080A>C (p.Lys694Gln) c.2020A>C (p.Lys674Gln) c.1924A>C (p.Lys642Gln)
6	g.43048499C>A	CA450262057	CUL7,KLC4	c.1896G>T (p.Gly632=) n.2179G>T c.1992G>T (p.Gly664=) n.2195G>T n.2230G>T c.388G>T c.-553+4991C>A (n.-553+4991C>A) c.2148G>T (p.Gly716=) c.2052G>T (p.Gly684=) c.-287G>T (n.-287G>T) c.2175G>T (p.Gly725=) c.2079G>T (p.Gly693=) c.2019G>T (p.Gly673=) c.1923G>T (p.Gly641=)
6	g.43048499C>G	CA450262062	CUL7,KLC4	c.1896G>C (p.Gly632=) n.2179G>C c.1992G>C (p.Gly664=) n.2195G>C n.2230G>C c.388G>C c.-553+4991C>G (n.-553+4991C>G) c.2148G>C (p.Gly716=) c.2052G>C (p.Gly684=) c.-287G>C (n.-287G>C) c.2175G>C (p.Gly725=) c.2079G>C (p.Gly693=) c.2019G>C (p.Gly673=) c.1923G>C (p.Gly641=)
6	g.43048499C>T	CA450262059	CUL7,KLC4	c.1896G>A (p.Gly632=) n.2179G>A c.1992G>A (p.Gly664=) n.2195G>A n.2230G>A c.388G>A c.-553+4991C>T (n.-553+4991C>T) c.2148G>A (p.Gly716=) c.2052G>A (p.Gly684=) c.-287G>A (n.-287G>A) c.2175G>A (p.Gly725=) c.2079G>A (p.Gly693=) c.2019G>A (p.Gly673=) c.1923G>A (p.Gly641=)
6	g.43048500C>A	CA364220818	CUL7,KLC4	c.1895G>T (p.Gly632Val) n.2178G>T c.1991G>T (p.Gly664Val) n.2194G>T n.2229G>T c.387G>T c.-553+4992C>A (n.-553+4992C>A) c.2147G>T (p.Gly716Val) c.2051G>T (p.Gly684Val) c.-288G>T (n.-288G>T) c.2174G>T (p.Gly725Val) c.2078G>T (p.Gly693Val) c.2018G>T (p.Gly673Val) c.1922G>T (p.Gly641Val)
6	g.43048500C>G	CA364220820	CUL7,KLC4	c.1895G>C (p.Gly632Ala) n.2178G>C c.1991G>C (p.Gly664Ala) n.2194G>C n.2229G>C c.387G>C c.-553+4992C>G (n.-553+4992C>G) c.2147G>C (p.Gly716Ala) c.2051G>C (p.Gly684Ala) c.-288G>C (n.-288G>C) c.2174G>C (p.Gly725Ala) c.2078G>C (p.Gly693Ala) c.2018G>C (p.Gly673Ala) c.1922G>C (p.Gly641Ala)
6	g.43048500C>T	CA364220822	CUL7,KLC4	c.1895G>A (p.Gly632Glu) n.2178G>A c.1991G>A (p.Gly664Glu) n.2194G>A n.2229G>A c.387G>A c.-553+4992C>T (n.-553+4992C>T) c.2147G>A (p.Gly716Glu) c.2051G>A (p.Gly684Glu) c.-288G>A (n.-288G>A) c.2174G>A (p.Gly725Glu) c.2078G>A (p.Gly693Glu) c.2018G>A (p.Gly673Glu) c.1922G>A (p.Gly641Glu)
6	g.43048501C>A	CA364220824	CUL7,KLC4	c.1894G>T (p.Gly632Trp) n.2177G>T c.1990G>T (p.Gly664Trp) n.2193G>T n.2228G>T c.386G>T c.-553+4993C>A (n.-553+4993C>A) c.2146G>T (p.Gly716Trp) c.2050G>T (p.Gly684Trp) c.-289G>T (n.-289G>T) c.2173G>T (p.Gly725Trp) c.2077G>T (p.Gly693Trp) c.2017G>T (p.Gly673Trp) c.1921G>T (p.Gly641Trp)
6	g.43048501C=	CA1624357400	CUL7,KLC4	c.1894G= (p.Gly632=) n.2177G= c.1990G= (p.Gly664=) n.2193G= n.2228G= c.386G= c.-553+4993C= (n.-553+4993C=) c.2146G= (p.Gly716=) c.2050G= (p.Gly684=) c.-289G= (n.-289G=) c.2173G= (p.Gly725=) c.2077G= (p.Gly693=) c.2017G= (p.Gly673=) c.1921G= (p.Gly641=)
6	g.43048501C>G	CA364220829	CUL7,KLC4	c.1894G>C (p.Gly632Arg) n.2177G>C c.1990G>C (p.Gly664Arg) n.2193G>C n.2228G>C c.386G>C c.-553+4993C>G (n.-553+4993C>G) c.2146G>C (p.Gly716Arg) c.2050G>C (p.Gly684Arg) c.-289G>C (n.-289G>C) c.2173G>C (p.Gly725Arg) c.2077G>C (p.Gly693Arg) c.2017G>C (p.Gly673Arg) c.1921G>C (p.Gly641Arg)
6	g.43048501C>T	CA364220828	CUL7,KLC4	c.1894G>A (p.Gly632Arg) n.2177G>A c.1990G>A (p.Gly664Arg) n.2193G>A n.2228G>A c.386G>A c.-553+4993C>T (n.-553+4993C>T) c.2146G>A (p.Gly716Arg) c.2050G>A (p.Gly684Arg) c.-289G>A (n.-289G>A) c.2173G>A (p.Gly725Arg) c.2077G>A (p.Gly693Arg) c.2017G>A (p.Gly673Arg) c.1921G>A (p.Gly641Arg)	dbSNP
6	g.43048502A>C	CA450262067	CUL7,KLC4	c.1893T>G (p.Ala631=) n.2176T>G c.1989T>G (p.Ala663=) n.2192T>G n.2227T>G c.385T>G c.-553+4994A>C (n.-553+4994A>C) c.2145T>G (p.Ala715=) c.2049T>G (p.Ala683=) c.-290T>G (n.-290T>G) c.2172T>G (p.Ala724=) c.2076T>G (p.Ala692=) c.2016T>G (p.Ala672=) c.1920T>G (p.Ala640=)
6	g.43048502A>G	CA450262068	CUL7,KLC4	c.1893T>C (p.Ala631=) n.2176T>C c.1989T>C (p.Ala663=) n.2192T>C n.2227T>C c.385T>C c.-553+4994A>G (n.-553+4994A>G) c.2145T>C (p.Ala715=) c.2049T>C (p.Ala683=) c.-290T>C (n.-290T>C) c.2172T>C (p.Ala724=) c.2076T>C (p.Ala692=) c.2016T>C (p.Ala672=) c.1920T>C (p.Ala640=)
6	g.43048502A>T	CA450262070	CUL7,KLC4	c.1893T>A (p.Ala631=) n.2176T>A c.1989T>A (p.Ala663=) n.2192T>A n.2227T>A c.385T>A c.-553+4994A>T (n.-553+4994A>T) c.2145T>A (p.Ala715=) c.2049T>A (p.Ala683=) c.-290T>A (n.-290T>A) c.2172T>A (p.Ala724=) c.2076T>A (p.Ala692=) c.2016T>A (p.Ala672=) c.1920T>A (p.Ala640=)
6	g.43048503G>A	CA364220830	CUL7,KLC4	c.1892C>T (p.Ala631Val) n.2175C>T c.1988C>T (p.Ala663Val) n.2191C>T n.2226C>T c.384C>T c.-553+4995G>A (n.-553+4995G>A) c.2144C>T (p.Ala715Val) c.2048C>T (p.Ala683Val) c.-291C>T (n.-291C>T) c.2171C>T (p.Ala724Val) c.2075C>T (p.Ala692Val) c.2015C>T (p.Ala672Val) c.1919C>T (p.Ala640Val)
6	g.43048503G>C	CA364220831	CUL7,KLC4	c.1892C>G (p.Ala631Gly) n.2175C>G c.1988C>G (p.Ala663Gly) n.2191C>G n.2226C>G c.384C>G c.-553+4995G>C (n.-553+4995G>C) c.2144C>G (p.Ala715Gly) c.2048C>G (p.Ala683Gly) c.-291C>G (n.-291C>G) c.2171C>G (p.Ala724Gly) c.2075C>G (p.Ala692Gly) c.2015C>G (p.Ala672Gly) c.1919C>G (p.Ala640Gly)
6	g.43048503G>T	CA364220832	CUL7,KLC4	c.1892C>A (p.Ala631Asp) n.2175C>A c.1988C>A (p.Ala663Asp) n.2191C>A n.2226C>A c.384C>A c.-553+4995G>T (n.-553+4995G>T) c.2144C>A (p.Ala715Asp) c.2048C>A (p.Ala683Asp) c.-291C>A (n.-291C>A) c.2171C>A (p.Ala724Asp) c.2075C>A (p.Ala692Asp) c.2015C>A (p.Ala672Asp) c.1919C>A (p.Ala640Asp)
6	g.43048504C>A	CA364220833	CUL7,KLC4	c.1891G>T (p.Ala631Ser) n.2174G>T c.1987G>T (p.Ala663Ser) n.2190G>T n.2225G>T c.383G>T c.-553+4996C>A (n.-553+4996C>A) c.2143G>T (p.Ala715Ser) c.2047G>T (p.Ala683Ser) c.-292G>T (n.-292G>T) c.2170G>T (p.Ala724Ser) c.2074G>T (p.Ala692Ser) c.2014G>T (p.Ala672Ser) c.1918G>T (p.Ala640Ser)
6	g.43048504C=	CA1624357401	CUL7,KLC4	c.1891G= (p.Ala631=) n.2174G= c.1987G= (p.Ala663=) n.2190G= n.2225G= c.383G= c.-553+4996C= (n.-553+4996C=) c.2143G= (p.Ala715=) c.2047G= (p.Ala683=) c.-292G= (n.-292G=) c.2170G= (p.Ala724=) c.2074G= (p.Ala692=) c.2014G= (p.Ala672=) c.1918G= (p.Ala640=)
6	g.43048504C>G	CA364220837	CUL7,KLC4	c.1891G>C (p.Ala631Pro) n.2174G>C c.1987G>C (p.Ala663Pro) n.2190G>C n.2225G>C c.383G>C c.-553+4996C>G (n.-553+4996C>G) c.2143G>C (p.Ala715Pro) c.2047G>C (p.Ala683Pro) c.-292G>C (n.-292G>C) c.2170G>C (p.Ala724Pro) c.2074G>C (p.Ala692Pro) c.2014G>C (p.Ala672Pro) c.1918G>C (p.Ala640Pro)	dbSNP
6	g.43048504C>T	CA364220838	CUL7,KLC4	c.1891G>A (p.Ala631Thr) n.2174G>A c.1987G>A (p.Ala663Thr) n.2190G>A n.2225G>A c.383G>A c.-553+4996C>T (n.-553+4996C>T) c.2143G>A (p.Ala715Thr) c.2047G>A (p.Ala683Thr) c.-292G>A (n.-292G>A) c.2170G>A (p.Ala724Thr) c.2074G>A (p.Ala692Thr) c.2014G>A (p.Ala672Thr) c.1918G>A (p.Ala640Thr)
6	g.43048505T>A	CA450262075	CUL7,KLC4	c.1890A>T (p.Pro630=) n.2173A>T c.1986A>T (p.Pro662=) n.2189A>T n.2224A>T c.382A>T c.-553+4997T>A (n.-553+4997T>A) c.2142A>T (p.Pro714=) c.2046A>T (p.Pro682=) c.-293A>T (n.-293A>T) c.2169A>T (p.Pro723=) c.2073A>T (p.Pro691=) c.2013A>T (p.Pro671=) c.1917A>T (p.Pro639=)
6	g.43048505T>C	CA450262077	CUL7,KLC4	c.1890A>G (p.Pro630=) n.2173A>G c.1986A>G (p.Pro662=) n.2189A>G n.2224A>G c.382A>G c.-553+4997T>C (n.-553+4997T>C) c.2142A>G (p.Pro714=) c.2046A>G (p.Pro682=) c.-293A>G (n.-293A>G) c.2169A>G (p.Pro723=) c.2073A>G (p.Pro691=) c.2013A>G (p.Pro671=) c.1917A>G (p.Pro639=)
6	g.43048505T>G	CA450262076	CUL7,KLC4	c.1890A>C (p.Pro630=) n.2173A>C c.1986A>C (p.Pro662=) n.2189A>C n.2224A>C c.382A>C c.-553+4997T>G (n.-553+4997T>G) c.2142A>C (p.Pro714=) c.2046A>C (p.Pro682=) c.-293A>C (n.-293A>C) c.2169A>C (p.Pro723=) c.2073A>C (p.Pro691=) c.2013A>C (p.Pro671=) c.1917A>C (p.Pro639=)
6	g.43048506G>A	CA364220843	CUL7,KLC4	c.1889C>T (p.Pro630Leu) n.2172C>T c.1985C>T (p.Pro662Leu) n.2188C>T n.2223C>T c.381C>T c.-553+4998G>A (n.-553+4998G>A) c.2141C>T (p.Pro714Leu) c.2045C>T (p.Pro682Leu) c.-294C>T (n.-294C>T) c.2168C>T (p.Pro723Leu) c.2072C>T (p.Pro691Leu) c.2012C>T (p.Pro671Leu) c.1916C>T (p.Pro639Leu)
6	g.43048506G>C	CA364220845	CUL7,KLC4	c.1889C>G (p.Pro630Arg) n.2172C>G c.1985C>G (p.Pro662Arg) n.2188C>G n.2223C>G c.381C>G c.-553+4998G>C (n.-553+4998G>C) c.2141C>G (p.Pro714Arg) c.2045C>G (p.Pro682Arg) c.-294C>G (n.-294C>G) c.2168C>G (p.Pro723Arg) c.2072C>G (p.Pro691Arg) c.2012C>G (p.Pro671Arg) c.1916C>G (p.Pro639Arg)
6	g.43048506G>T	CA364220846	CUL7,KLC4	c.1889C>A (p.Pro630Gln) n.2172C>A c.1985C>A (p.Pro662Gln) n.2188C>A n.2223C>A c.381C>A c.-553+4998G>T (n.-553+4998G>T) c.2141C>A (p.Pro714Gln) c.2045C>A (p.Pro682Gln) c.-294C>A (n.-294C>A) c.2168C>A (p.Pro723Gln) c.2072C>A (p.Pro691Gln) c.2012C>A (p.Pro671Gln) c.1916C>A (p.Pro639Gln)
6	g.43048507G>A	CA364220850	CUL7,KLC4	c.1888C>T (p.Pro630Ser) n.2171C>T c.1984C>T (p.Pro662Ser) n.2187C>T n.2222C>T c.380C>T c.-553+4999G>A (n.-553+4999G>A) c.2140C>T (p.Pro714Ser) c.2044C>T (p.Pro682Ser) c.-295C>T (n.-295C>T) c.2167C>T (p.Pro723Ser) c.2071C>T (p.Pro691Ser) c.2011C>T (p.Pro671Ser) c.1915C>T (p.Pro639Ser)
6	g.43048507G>C	CA364220851	CUL7,KLC4	c.1888C>G (p.Pro630Ala) n.2171C>G c.1984C>G (p.Pro662Ala) n.2187C>G n.2222C>G c.380C>G c.-553+4999G>C (n.-553+4999G>C) c.2140C>G (p.Pro714Ala) c.2044C>G (p.Pro682Ala) c.-295C>G (n.-295C>G) c.2167C>G (p.Pro723Ala) c.2071C>G (p.Pro691Ala) c.2011C>G (p.Pro671Ala) c.1915C>G (p.Pro639Ala)
6	g.43048507G>T	CA364220854	CUL7,KLC4	c.1888C>A (p.Pro630Thr) n.2171C>A c.1984C>A (p.Pro662Thr) n.2187C>A n.2222C>A c.380C>A c.-553+4999G>T (n.-553+4999G>T) c.2140C>A (p.Pro714Thr) c.2044C>A (p.Pro682Thr) c.-295C>A (n.-295C>A) c.2167C>A (p.Pro723Thr) c.2071C>A (p.Pro691Thr) c.2011C>A (p.Pro671Thr) c.1915C>A (p.Pro639Thr)
6	g.43048508A>C	CA450262082	CUL7,KLC4	c.1887T>G (p.Gly629=) n.2170T>G c.1983T>G (p.Gly661=) n.2186T>G n.2221T>G c.379T>G c.-553+5000A>C (n.-553+5000A>C) c.2139T>G (p.Gly713=) c.2043T>G (p.Gly681=) c.-296T>G (n.-296T>G) c.2166T>G (p.Gly722=) c.2070T>G (p.Gly690=) c.2010T>G (p.Gly670=) c.1914T>G (p.Gly638=)
6	g.43048508A>G	CA450262084	CUL7,KLC4	c.1887T>C (p.Gly629=) n.2170T>C c.1983T>C (p.Gly661=) n.2186T>C n.2221T>C c.379T>C c.-553+5000A>G (n.-553+5000A>G) c.2139T>C (p.Gly713=) c.2043T>C (p.Gly681=) c.-296T>C (n.-296T>C) c.2166T>C (p.Gly722=) c.2070T>C (p.Gly690=) c.2010T>C (p.Gly670=) c.1914T>C (p.Gly638=)
6	g.43048508A>T	CA450262085	CUL7,KLC4	c.1887T>A (p.Gly629=) n.2170T>A c.1983T>A (p.Gly661=) n.2186T>A n.2221T>A c.379T>A c.-553+5000A>T (n.-553+5000A>T) c.2139T>A (p.Gly713=) c.2043T>A (p.Gly681=) c.-296T>A (n.-296T>A) c.2166T>A (p.Gly722=) c.2070T>A (p.Gly690=) c.2010T>A (p.Gly670=) c.1914T>A (p.Gly638=)
6	g.43048509C>A	CA364220866	CUL7,KLC4	c.1886G>T (p.Gly629Val) n.2169G>T c.1982G>T (p.Gly661Val) n.2185G>T n.2220G>T c.378G>T c.-553+5001C>A (n.-553+5001C>A) c.2138G>T (p.Gly713Val) c.2042G>T (p.Gly681Val) c.-297G>T (n.-297G>T) c.2165G>T (p.Gly722Val) c.2069G>T (p.Gly690Val) c.2009G>T (p.Gly670Val) c.1913G>T (p.Gly638Val)
6	g.43048509C>G	CA364220863	CUL7,KLC4	c.1886G>C (p.Gly629Ala) n.2169G>C c.1982G>C (p.Gly661Ala) n.2185G>C n.2220G>C c.378G>C c.-553+5001C>G (n.-553+5001C>G) c.2138G>C (p.Gly713Ala) c.2042G>C (p.Gly681Ala) c.-297G>C (n.-297G>C) c.2165G>C (p.Gly722Ala) c.2069G>C (p.Gly690Ala) c.2009G>C (p.Gly670Ala) c.1913G>C (p.Gly638Ala)
6	g.43048509C>T	CA364220861	CUL7,KLC4	c.1886G>A (p.Gly629Asp) n.2169G>A c.1982G>A (p.Gly661Asp) n.2185G>A n.2220G>A c.378G>A c.-553+5001C>T (n.-553+5001C>T) c.2138G>A (p.Gly713Asp) c.2042G>A (p.Gly681Asp) c.-297G>A (n.-297G>A) c.2165G>A (p.Gly722Asp) c.2069G>A (p.Gly690Asp) c.2009G>A (p.Gly670Asp) c.1913G>A (p.Gly638Asp)	gnomAD v4
6	g.43048510C>A	CA364220873	CUL7,KLC4	c.1885G>T (p.Gly629Cys) n.2168G>T c.1981G>T (p.Gly661Cys) n.2184G>T n.2219G>T c.377G>T c.-553+5002C>A (n.-553+5002C>A) c.2137G>T (p.Gly713Cys) c.2041G>T (p.Gly681Cys) c.-298G>T (n.-298G>T) c.2164G>T (p.Gly722Cys) c.2068G>T (p.Gly690Cys) c.2008G>T (p.Gly670Cys) c.1912G>T (p.Gly638Cys)
6	g.43048510C>G	CA364220870	CUL7,KLC4	c.1885G>C (p.Gly629Arg) n.2168G>C c.1981G>C (p.Gly661Arg) n.2184G>C n.2219G>C c.377G>C c.-553+5002C>G (n.-553+5002C>G) c.2137G>C (p.Gly713Arg) c.2041G>C (p.Gly681Arg) c.-298G>C (n.-298G>C) c.2164G>C (p.Gly722Arg) c.2068G>C (p.Gly690Arg) c.2008G>C (p.Gly670Arg) c.1912G>C (p.Gly638Arg)
6	g.43048510C>T	CA364220874	CUL7,KLC4	c.1885G>A (p.Gly629Ser) n.2168G>A c.1981G>A (p.Gly661Ser) n.2184G>A n.2219G>A c.377G>A c.-553+5002C>T (n.-553+5002C>T) c.2137G>A (p.Gly713Ser) c.2041G>A (p.Gly681Ser) c.-298G>A (n.-298G>A) c.2164G>A (p.Gly722Ser) c.2068G>A (p.Gly690Ser) c.2008G>A (p.Gly670Ser) c.1912G>A (p.Gly638Ser)
6	g.43048511A=	CA1624357402	CUL7,KLC4	c.1884T= (p.Tyr628=) n.2167T= c.1980T= (p.Tyr660=) n.2183T= n.2218T= c.376T= c.-553+5003A= (n.-553+5003A=) c.2136T= (p.Tyr712=) c.2040T= (p.Tyr680=) c.-299T= (n.-299T=) c.2163T= (p.Tyr721=) c.2067T= (p.Tyr689=) c.2007T= (p.Tyr669=) c.1911T= (p.Tyr637=)
6	g.43048511A>C	CA3814043	CUL7,KLC4	c.1884T>G (p.Tyr628Ter) n.2167T>G c.1980T>G (p.Tyr660Ter) n.2183T>G n.2218T>G c.376T>G c.-553+5003A>C (n.-553+5003A>C) c.2136T>G (p.Tyr712Ter) c.2040T>G (p.Tyr680Ter) c.-299T>G (n.-299T>G) c.2163T>G (p.Tyr721Ter) c.2067T>G (p.Tyr689Ter) c.2007T>G (p.Tyr669Ter) c.1911T>G (p.Tyr637Ter)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048511A>G	CA450262089	CUL7,KLC4	c.1884T>C (p.Tyr628=) n.2167T>C c.1980T>C (p.Tyr660=) n.2183T>C n.2218T>C c.376T>C c.-553+5003A>G (n.-553+5003A>G) c.2136T>C (p.Tyr712=) c.2040T>C (p.Tyr680=) c.-299T>C (n.-299T>C) c.2163T>C (p.Tyr721=) c.2067T>C (p.Tyr689=) c.2007T>C (p.Tyr669=) c.1911T>C (p.Tyr637=)	dbSNP gnomAD v3 gnomAD v4
6	g.43048511A>T	CA364220880	CUL7,KLC4	c.1884T>A (p.Tyr628Ter) n.2167T>A c.1980T>A (p.Tyr660Ter) n.2183T>A n.2218T>A c.376T>A c.-553+5003A>T (n.-553+5003A>T) c.2136T>A (p.Tyr712Ter) c.2040T>A (p.Tyr680Ter) c.-299T>A (n.-299T>A) c.2163T>A (p.Tyr721Ter) c.2067T>A (p.Tyr689Ter) c.2007T>A (p.Tyr669Ter) c.1911T>A (p.Tyr637Ter)
6	g.43048512T>A	CA364220889	CUL7,KLC4	c.1883A>T (p.Tyr628Phe) n.2166A>T c.1979A>T (p.Tyr660Phe) n.2182A>T n.2217A>T c.375A>T c.-553+5004T>A (n.-553+5004T>A) c.2135A>T (p.Tyr712Phe) c.2039A>T (p.Tyr680Phe) c.-300A>T (n.-300A>T) c.2162A>T (p.Tyr721Phe) c.2066A>T (p.Tyr689Phe) c.2006A>T (p.Tyr669Phe) c.1910A>T (p.Tyr637Phe)
6	g.43048512T>C	CA364220902	CUL7,KLC4	c.1883A>G (p.Tyr628Cys) n.2166A>G c.1979A>G (p.Tyr660Cys) n.2182A>G n.2217A>G c.375A>G c.-553+5004T>C (n.-553+5004T>C) c.2135A>G (p.Tyr712Cys) c.2039A>G (p.Tyr680Cys) c.-300A>G (n.-300A>G) c.2162A>G (p.Tyr721Cys) c.2066A>G (p.Tyr689Cys) c.2006A>G (p.Tyr669Cys) c.1910A>G (p.Tyr637Cys)	dbSNP gnomAD v2 gnomAD v4
6	g.43048512T>G	CA364220904	CUL7,KLC4	c.1883A>C (p.Tyr628Ser) n.2166A>C c.1979A>C (p.Tyr660Ser) n.2182A>C n.2217A>C c.375A>C c.-553+5004T>G (n.-553+5004T>G) c.2135A>C (p.Tyr712Ser) c.2039A>C (p.Tyr680Ser) c.-300A>C (n.-300A>C) c.2162A>C (p.Tyr721Ser) c.2066A>C (p.Tyr689Ser) c.2006A>C (p.Tyr669Ser) c.1910A>C (p.Tyr637Ser)
6	g.43048512T=	CA1624357403	CUL7,KLC4	c.1883A= (p.Tyr628=) n.2166A= c.1979A= (p.Tyr660=) n.2182A= n.2217A= c.375A= c.-553+5004T= (n.-553+5004T=) c.2135A= (p.Tyr712=) c.2039A= (p.Tyr680=) c.-300A= (n.-300A=) c.2162A= (p.Tyr721=) c.2066A= (p.Tyr689=) c.2006A= (p.Tyr669=) c.1910A= (p.Tyr637=)
6	g.43048513A>C	CA364220909	CUL7,KLC4	c.1882T>G (p.Tyr628Asp) n.2165T>G c.1978T>G (p.Tyr660Asp) n.2181T>G n.2216T>G c.374T>G c.-553+5005A>C (n.-553+5005A>C) c.2134T>G (p.Tyr712Asp) c.2038T>G (p.Tyr680Asp) c.-301T>G (n.-301T>G) c.2161T>G (p.Tyr721Asp) c.2065T>G (p.Tyr689Asp) c.2005T>G (p.Tyr669Asp) c.1909T>G (p.Tyr637Asp)
6	g.43048513A>G	CA364220914	CUL7,KLC4	c.1882T>C (p.Tyr628His) n.2165T>C c.1978T>C (p.Tyr660His) n.2181T>C n.2216T>C c.374T>C c.-553+5005A>G (n.-553+5005A>G) c.2134T>C (p.Tyr712His) c.2038T>C (p.Tyr680His) c.-301T>C (n.-301T>C) c.2161T>C (p.Tyr721His) c.2065T>C (p.Tyr689His) c.2005T>C (p.Tyr669His) c.1909T>C (p.Tyr637His)
6	g.43048513A>T	CA364220920	CUL7,KLC4	c.1882T>A (p.Tyr628Asn) n.2165T>A c.1978T>A (p.Tyr660Asn) n.2181T>A n.2216T>A c.374T>A c.-553+5005A>T (n.-553+5005A>T) c.2134T>A (p.Tyr712Asn) c.2038T>A (p.Tyr680Asn) c.-301T>A (n.-301T>A) c.2161T>A (p.Tyr721Asn) c.2065T>A (p.Tyr689Asn) c.2005T>A (p.Tyr669Asn) c.1909T>A (p.Tyr637Asn)	gnomAD v4
6	g.43048514del	CA2580074612	CUL7,KLC4	c.1882del (p.Tyr628MetfsTer11) n.2165del c.1978del (p.Tyr660MetfsTer11) n.2181del n.2216del c.374del c.-553+5006del (n.-553+5006del) c.2134del (p.Tyr712MetfsTer11) c.2038del (p.Tyr680MetfsTer11) c.-301del (n.-301del) c.2161del (p.Tyr721MetfsTer11) c.2065del (p.Tyr689MetfsTer11) c.2005del (p.Tyr669MetfsTer11) c.1909del (p.Tyr637MetfsTer11)	ClinVar
6	g.43048514A=	CA1624357404	CUL7,KLC4	c.1881T= (p.Gly627=) n.2164T= c.1977T= (p.Gly659=) n.2180T= n.2215T= c.373T= c.-553+5006A= (n.-553+5006A=) c.2133T= (p.Gly711=) c.2037T= (p.Gly679=) c.-302T= (n.-302T=) c.2160T= (p.Gly720=) c.2064T= (p.Gly688=) c.2004T= (p.Gly668=) c.1908T= (p.Gly636=)
6	g.43048514A>C	CA450262098	CUL7,KLC4	c.1881T>G (p.Gly627=) n.2164T>G c.1977T>G (p.Gly659=) n.2180T>G n.2215T>G c.373T>G c.-553+5006A>C (n.-553+5006A>C) c.2133T>G (p.Gly711=) c.2037T>G (p.Gly679=) c.-302T>G (n.-302T>G) c.2160T>G (p.Gly720=) c.2064T>G (p.Gly688=) c.2004T>G (p.Gly668=) c.1908T>G (p.Gly636=)	dbSNP
6	g.43048514A>G	CA450262096	CUL7,KLC4	c.1881T>C (p.Gly627=) n.2164T>C c.1977T>C (p.Gly659=) n.2180T>C n.2215T>C c.373T>C c.-553+5006A>G (n.-553+5006A>G) c.2133T>C (p.Gly711=) c.2037T>C (p.Gly679=) c.-302T>C (n.-302T>C) c.2160T>C (p.Gly720=) c.2064T>C (p.Gly688=) c.2004T>C (p.Gly668=) c.1908T>C (p.Gly636=)
6	g.43048514A>T	CA450262097	CUL7,KLC4	c.1881T>A (p.Gly627=) n.2164T>A c.1977T>A (p.Gly659=) n.2180T>A n.2215T>A c.373T>A c.-553+5006A>T (n.-553+5006A>T) c.2133T>A (p.Gly711=) c.2037T>A (p.Gly679=) c.-302T>A (n.-302T>A) c.2160T>A (p.Gly720=) c.2064T>A (p.Gly688=) c.2004T>A (p.Gly668=) c.1908T>A (p.Gly636=)
6	g.43048515C>A	CA364220922	CUL7,KLC4	c.1880G>T (p.Gly627Val) n.2163G>T c.1976G>T (p.Gly659Val) n.2179G>T n.2214G>T c.372G>T c.-553+5007C>A (n.-553+5007C>A) c.2132G>T (p.Gly711Val) c.2036G>T (p.Gly679Val) c.-303G>T (n.-303G>T) c.2159G>T (p.Gly720Val) c.2063G>T (p.Gly688Val) c.2003G>T (p.Gly668Val) c.1907G>T (p.Gly636Val)
6	g.43048515C>G	CA364220925	CUL7,KLC4	c.1880G>C (p.Gly627Ala) n.2163G>C c.1976G>C (p.Gly659Ala) n.2179G>C n.2214G>C c.372G>C c.-553+5007C>G (n.-553+5007C>G) c.2132G>C (p.Gly711Ala) c.2036G>C (p.Gly679Ala) c.-303G>C (n.-303G>C) c.2159G>C (p.Gly720Ala) c.2063G>C (p.Gly688Ala) c.2003G>C (p.Gly668Ala) c.1907G>C (p.Gly636Ala)
6	g.43048515C>T	CA364220928	CUL7,KLC4	c.1880G>A (p.Gly627Asp) n.2163G>A c.1976G>A (p.Gly659Asp) n.2179G>A n.2214G>A c.372G>A c.-553+5007C>T (n.-553+5007C>T) c.2132G>A (p.Gly711Asp) c.2036G>A (p.Gly679Asp) c.-303G>A (n.-303G>A) c.2159G>A (p.Gly720Asp) c.2063G>A (p.Gly688Asp) c.2003G>A (p.Gly668Asp) c.1907G>A (p.Gly636Asp)	gnomAD v4
6	g.43048516C>A	CA364220935	CUL7,KLC4	c.1879G>T (p.Gly627Cys) n.2162G>T c.1975G>T (p.Gly659Cys) n.2178G>T n.2213G>T c.371G>T c.-553+5008C>A (n.-553+5008C>A) c.2131G>T (p.Gly711Cys) c.2035G>T (p.Gly679Cys) c.-304G>T (n.-304G>T) c.2158G>T (p.Gly720Cys) c.2062G>T (p.Gly688Cys) c.2002G>T (p.Gly668Cys) c.1906G>T (p.Gly636Cys)
6	g.43048516C>G	CA364220938	CUL7,KLC4	c.1879G>C (p.Gly627Arg) n.2162G>C c.1975G>C (p.Gly659Arg) n.2178G>C n.2213G>C c.371G>C c.-553+5008C>G (n.-553+5008C>G) c.2131G>C (p.Gly711Arg) c.2035G>C (p.Gly679Arg) c.-304G>C (n.-304G>C) c.2158G>C (p.Gly720Arg) c.2062G>C (p.Gly688Arg) c.2002G>C (p.Gly668Arg) c.1906G>C (p.Gly636Arg)
6	g.43048516C>T	CA364220943	CUL7,KLC4	c.1879G>A (p.Gly627Ser) n.2162G>A c.1975G>A (p.Gly659Ser) n.2178G>A n.2213G>A c.371G>A c.-553+5008C>T (n.-553+5008C>T) c.2131G>A (p.Gly711Ser) c.2035G>A (p.Gly679Ser) c.-304G>A (n.-304G>A) c.2158G>A (p.Gly720Ser) c.2062G>A (p.Gly688Ser) c.2002G>A (p.Gly668Ser) c.1906G>A (p.Gly636Ser)
6	g.43048517C>A	CA364220949	CUL7,KLC4	c.1878G>T (p.Glu626Asp) n.2161G>T c.1974G>T (p.Glu658Asp) n.2177G>T n.2212G>T c.370G>T c.-553+5009C>A (n.-553+5009C>A) c.2130G>T (p.Glu710Asp) c.2034G>T (p.Glu678Asp) c.-305G>T (n.-305G>T) c.2157G>T (p.Glu719Asp) c.2061G>T (p.Glu687Asp) c.2001G>T (p.Glu667Asp) c.1905G>T (p.Glu635Asp)
6	g.43048517C>G	CA364220947	CUL7,KLC4	c.1878G>C (p.Glu626Asp) n.2161G>C c.1974G>C (p.Glu658Asp) n.2177G>C n.2212G>C c.370G>C c.-553+5009C>G (n.-553+5009C>G) c.2130G>C (p.Glu710Asp) c.2034G>C (p.Glu678Asp) c.-305G>C (n.-305G>C) c.2157G>C (p.Glu719Asp) c.2061G>C (p.Glu687Asp) c.2001G>C (p.Glu667Asp) c.1905G>C (p.Glu635Asp)
6	g.43048517C>T	CA450262104	CUL7,KLC4	c.1878G>A (p.Glu626=) n.2161G>A c.1974G>A (p.Glu658=) n.2177G>A n.2212G>A c.370G>A c.-553+5009C>T (n.-553+5009C>T) c.2130G>A (p.Glu710=) c.2034G>A (p.Glu678=) c.-305G>A (n.-305G>A) c.2157G>A (p.Glu719=) c.2061G>A (p.Glu687=) c.2001G>A (p.Glu667=) c.1905G>A (p.Glu635=)
6	g.43048518T>A	CA364220954	CUL7,KLC4	c.1877A>T (p.Glu626Val) n.2160A>T c.1973A>T (p.Glu658Val) n.2176A>T n.2211A>T c.369A>T c.-553+5010T>A (n.-553+5010T>A) c.2129A>T (p.Glu710Val) c.2033A>T (p.Glu678Val) c.-306A>T (n.-306A>T) c.2156A>T (p.Glu719Val) c.2060A>T (p.Glu687Val) c.2000A>T (p.Glu667Val) c.1904A>T (p.Glu635Val)
6	g.43048518T>C	CA364220961	CUL7,KLC4	c.1877A>G (p.Glu626Gly) n.2160A>G c.1973A>G (p.Glu658Gly) n.2176A>G n.2211A>G c.369A>G c.-553+5010T>C (n.-553+5010T>C) c.2129A>G (p.Glu710Gly) c.2033A>G (p.Glu678Gly) c.-306A>G (n.-306A>G) c.2156A>G (p.Glu719Gly) c.2060A>G (p.Glu687Gly) c.2000A>G (p.Glu667Gly) c.1904A>G (p.Glu635Gly)	dbSNP
6	g.43048518T>G	CA364220963	CUL7,KLC4	c.1877A>C (p.Glu626Ala) n.2160A>C c.1973A>C (p.Glu658Ala) n.2176A>C n.2211A>C c.369A>C c.-553+5010T>G (n.-553+5010T>G) c.2129A>C (p.Glu710Ala) c.2033A>C (p.Glu678Ala) c.-306A>C (n.-306A>C) c.2156A>C (p.Glu719Ala) c.2060A>C (p.Glu687Ala) c.2000A>C (p.Glu667Ala) c.1904A>C (p.Glu635Ala)
6	g.43048518T=	CA1624357405	CUL7,KLC4	c.1877A= (p.Glu626=) n.2160A= c.1973A= (p.Glu658=) n.2176A= n.2211A= c.369A= c.-553+5010T= (n.-553+5010T=) c.2129A= (p.Glu710=) c.2033A= (p.Glu678=) c.-306A= (n.-306A=) c.2156A= (p.Glu719=) c.2060A= (p.Glu687=) c.2000A= (p.Glu667=) c.1904A= (p.Glu635=)
6	g.43048519C>A	CA364220966	CUL7,KLC4	c.1876G>T (p.Glu626Ter) n.2159G>T c.1972G>T (p.Glu658Ter) n.2175G>T n.2210G>T c.368G>T c.-553+5011C>A (n.-553+5011C>A) c.2128G>T (p.Glu710Ter) c.2032G>T (p.Glu678Ter) c.-307G>T (n.-307G>T) c.2155G>T (p.Glu719Ter) c.2059G>T (p.Glu687Ter) c.1999G>T (p.Glu667Ter) c.1903G>T (p.Glu635Ter)	ClinVar
6	g.43048519C>G	CA364220970	CUL7,KLC4	c.1876G>C (p.Glu626Gln) n.2159G>C c.1972G>C (p.Glu658Gln) n.2175G>C n.2210G>C c.368G>C c.-553+5011C>G (n.-553+5011C>G) c.2128G>C (p.Glu710Gln) c.2032G>C (p.Glu678Gln) c.-307G>C (n.-307G>C) c.2155G>C (p.Glu719Gln) c.2059G>C (p.Glu687Gln) c.1999G>C (p.Glu667Gln) c.1903G>C (p.Glu635Gln)
6	g.43048519C>T	CA364220973	CUL7,KLC4	c.1876G>A (p.Glu626Lys) n.2159G>A c.1972G>A (p.Glu658Lys) n.2175G>A n.2210G>A c.368G>A c.-553+5011C>T (n.-553+5011C>T) c.2128G>A (p.Glu710Lys) c.2032G>A (p.Glu678Lys) c.-307G>A (n.-307G>A) c.2155G>A (p.Glu719Lys) c.2059G>A (p.Glu687Lys) c.1999G>A (p.Glu667Lys) c.1903G>A (p.Glu635Lys)
6	g.43048520C>A	CA450262107	CUL7,KLC4	c.1875G>T (p.Val625=) n.2158G>T c.1971G>T (p.Val657=) n.2174G>T n.2209G>T c.367G>T c.-553+5012C>A (n.-553+5012C>A) c.2127G>T (p.Val709=) c.2031G>T (p.Val677=) c.-308G>T (n.-308G>T) c.2154G>T (p.Val718=) c.2058G>T (p.Val686=) c.1998G>T (p.Val666=) c.1902G>T (p.Val634=)
6	g.43048520C>G	CA450262109	CUL7,KLC4	c.1875G>C (p.Val625=) n.2158G>C c.1971G>C (p.Val657=) n.2174G>C n.2209G>C c.367G>C c.-553+5012C>G (n.-553+5012C>G) c.2127G>C (p.Val709=) c.2031G>C (p.Val677=) c.-308G>C (n.-308G>C) c.2154G>C (p.Val718=) c.2058G>C (p.Val686=) c.1998G>C (p.Val666=) c.1902G>C (p.Val634=)
6	g.43048520C>T	CA450262111	CUL7,KLC4	c.1875G>A (p.Val625=) n.2158G>A c.1971G>A (p.Val657=) n.2174G>A n.2209G>A c.367G>A c.-553+5012C>T (n.-553+5012C>T) c.2127G>A (p.Val709=) c.2031G>A (p.Val677=) c.-308G>A (n.-308G>A) c.2154G>A (p.Val718=) c.2058G>A (p.Val686=) c.1998G>A (p.Val666=) c.1902G>A (p.Val634=)	gnomAD v4
6	g.43048521A=	CA1624357406	CUL7,KLC4	c.1874T= (p.Val625=) n.2157T= c.1970T= (p.Val657=) n.2173T= n.2208T= c.366T= c.-553+5013A= (n.-553+5013A=) c.2126T= (p.Val709=) c.2030T= (p.Val677=) c.-309T= (n.-309T=) c.2153T= (p.Val718=) c.2057T= (p.Val686=) c.1997T= (p.Val666=) c.1901T= (p.Val634=)
6	g.43048521A>C	CA364220975	CUL7,KLC4	c.1874T>G (p.Val625Gly) n.2157T>G c.1970T>G (p.Val657Gly) n.2173T>G n.2208T>G c.366T>G c.-553+5013A>C (n.-553+5013A>C) c.2126T>G (p.Val709Gly) c.2030T>G (p.Val677Gly) c.-309T>G (n.-309T>G) c.2153T>G (p.Val718Gly) c.2057T>G (p.Val686Gly) c.1997T>G (p.Val666Gly) c.1901T>G (p.Val634Gly)	dbSNP
6	g.43048521A>G	CA364220979	CUL7,KLC4	c.1874T>C (p.Val625Ala) n.2157T>C c.1970T>C (p.Val657Ala) n.2173T>C n.2208T>C c.366T>C c.-553+5013A>G (n.-553+5013A>G) c.2126T>C (p.Val709Ala) c.2030T>C (p.Val677Ala) c.-309T>C (n.-309T>C) c.2153T>C (p.Val718Ala) c.2057T>C (p.Val686Ala) c.1997T>C (p.Val666Ala) c.1901T>C (p.Val634Ala)	dbSNP gnomAD v2 gnomAD v4
6	g.43048521A>T	CA364220981	CUL7,KLC4	c.1874T>A (p.Val625Glu) n.2157T>A c.1970T>A (p.Val657Glu) n.2173T>A n.2208T>A c.366T>A c.-553+5013A>T (n.-553+5013A>T) c.2126T>A (p.Val709Glu) c.2030T>A (p.Val677Glu) c.-309T>A (n.-309T>A) c.2153T>A (p.Val718Glu) c.2057T>A (p.Val686Glu) c.1997T>A (p.Val666Glu) c.1901T>A (p.Val634Glu)
6	g.43048522C>A	CA364220986	CUL7,KLC4	c.1873G>T (p.Val625Leu) n.2156G>T c.1969G>T (p.Val657Leu) n.2172G>T n.2207G>T c.365G>T c.-553+5014C>A (n.-553+5014C>A) c.2125G>T (p.Val709Leu) c.2029G>T (p.Val677Leu) c.-310G>T (n.-310G>T) c.2152G>T (p.Val718Leu) c.2056G>T (p.Val686Leu) c.1996G>T (p.Val666Leu) c.1900G>T (p.Val634Leu)
6	g.43048522C>G	CA364220989	CUL7,KLC4	c.1873G>C (p.Val625Leu) n.2156G>C c.1969G>C (p.Val657Leu) n.2172G>C n.2207G>C c.365G>C c.-553+5014C>G (n.-553+5014C>G) c.2125G>C (p.Val709Leu) c.2029G>C (p.Val677Leu) c.-310G>C (n.-310G>C) c.2152G>C (p.Val718Leu) c.2056G>C (p.Val686Leu) c.1996G>C (p.Val666Leu) c.1900G>C (p.Val634Leu)
6	g.43048522C>T	CA364221003	CUL7,KLC4	c.1873G>A (p.Val625Met) n.2156G>A c.1969G>A (p.Val657Met) n.2172G>A n.2207G>A c.365G>A c.-553+5014C>T (n.-553+5014C>T) c.2125G>A (p.Val709Met) c.2029G>A (p.Val677Met) c.-310G>A (n.-310G>A) c.2152G>A (p.Val718Met) c.2056G>A (p.Val686Met) c.1996G>A (p.Val666Met) c.1900G>A (p.Val634Met)
6	g.43048523C>A	CA450262114	CUL7,KLC4	c.1872G>T (p.Leu624=) n.2155G>T c.1968G>T (p.Leu656=) n.2171G>T n.2206G>T c.364G>T c.-553+5015C>A (n.-553+5015C>A) c.2124G>T (p.Leu708=) c.2028G>T (p.Leu676=) c.-311G>T (n.-311G>T) c.2151G>T (p.Leu717=) c.2055G>T (p.Leu685=) c.1995G>T (p.Leu665=) c.1899G>T (p.Leu633=)
6	g.43048523C>G	CA450262115	CUL7,KLC4	c.1872G>C (p.Leu624=) n.2155G>C c.1968G>C (p.Leu656=) n.2171G>C n.2206G>C c.364G>C c.-553+5015C>G (n.-553+5015C>G) c.2124G>C (p.Leu708=) c.2028G>C (p.Leu676=) c.-311G>C (n.-311G>C) c.2151G>C (p.Leu717=) c.2055G>C (p.Leu685=) c.1995G>C (p.Leu665=) c.1899G>C (p.Leu633=)
6	g.43048523C>T	CA450262116	CUL7,KLC4	c.1872G>A (p.Leu624=) n.2155G>A c.1968G>A (p.Leu656=) n.2171G>A n.2206G>A c.364G>A c.-553+5015C>T (n.-553+5015C>T) c.2124G>A (p.Leu708=) c.2028G>A (p.Leu676=) c.-311G>A (n.-311G>A) c.2151G>A (p.Leu717=) c.2055G>A (p.Leu685=) c.1995G>A (p.Leu665=) c.1899G>A (p.Leu633=)
6	g.43048524A=	CA1624357407	CUL7,KLC4	c.1871T= (p.Leu624=) n.2154T= c.1967T= (p.Leu656=) n.2170T= n.2205T= c.363T= c.-553+5016A= (n.-553+5016A=) c.2123T= (p.Leu708=) c.2027T= (p.Leu676=) c.-312T= (n.-312T=) c.2150T= (p.Leu717=) c.2054T= (p.Leu685=) c.1994T= (p.Leu665=) c.1898T= (p.Leu633=)
6	g.43048524A>C	CA364221009	CUL7,KLC4	c.1871T>G (p.Leu624Arg) n.2154T>G c.1967T>G (p.Leu656Arg) n.2170T>G n.2205T>G c.363T>G c.-553+5016A>C (n.-553+5016A>C) c.2123T>G (p.Leu708Arg) c.2027T>G (p.Leu676Arg) c.-312T>G (n.-312T>G) c.2150T>G (p.Leu717Arg) c.2054T>G (p.Leu685Arg) c.1994T>G (p.Leu665Arg) c.1898T>G (p.Leu633Arg)
6	g.43048524A>G	CA364221026	CUL7,KLC4	c.1871T>C (p.Leu624Pro) n.2154T>C c.1967T>C (p.Leu656Pro) n.2170T>C n.2205T>C c.363T>C c.-553+5016A>G (n.-553+5016A>G) c.2123T>C (p.Leu708Pro) c.2027T>C (p.Leu676Pro) c.-312T>C (n.-312T>C) c.2150T>C (p.Leu717Pro) c.2054T>C (p.Leu685Pro) c.1994T>C (p.Leu665Pro) c.1898T>C (p.Leu633Pro)	dbSNP gnomAD v2 gnomAD v4
6	g.43048524A>T	CA364221005	CUL7,KLC4	c.1871T>A (p.Leu624Gln) n.2154T>A c.1967T>A (p.Leu656Gln) n.2170T>A n.2205T>A c.363T>A c.-553+5016A>T (n.-553+5016A>T) c.2123T>A (p.Leu708Gln) c.2027T>A (p.Leu676Gln) c.-312T>A (n.-312T>A) c.2150T>A (p.Leu717Gln) c.2054T>A (p.Leu685Gln) c.1994T>A (p.Leu665Gln) c.1898T>A (p.Leu633Gln)
6	g.43048525G>A	CA3814044	CUL7,KLC4	c.1870C>T (p.Leu624=) n.2153C>T c.1966C>T (p.Leu656=) n.2169C>T n.2204C>T c.362C>T c.-553+5017G>A (n.-553+5017G>A) c.2122C>T (p.Leu708=) c.2026C>T (p.Leu676=) c.-313C>T (n.-313C>T) c.2149C>T (p.Leu717=) c.2053C>T (p.Leu685=) c.1993C>T (p.Leu665=) c.1897C>T (p.Leu633=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048525G>C	CA364221033	CUL7,KLC4	c.1870C>G (p.Leu624Val) n.2153C>G c.1966C>G (p.Leu656Val) n.2169C>G n.2204C>G c.362C>G c.-553+5017G>C (n.-553+5017G>C) c.2122C>G (p.Leu708Val) c.2026C>G (p.Leu676Val) c.-313C>G (n.-313C>G) c.2149C>G (p.Leu717Val) c.2053C>G (p.Leu685Val) c.1993C>G (p.Leu665Val) c.1897C>G (p.Leu633Val)
6	g.43048525G=	CA1624357408	CUL7,KLC4	c.1870C= (p.Leu624=) n.2153C= c.1966C= (p.Leu656=) n.2169C= n.2204C= c.362C= c.-553+5017G= (n.-553+5017G=) c.2122C= (p.Leu708=) c.2026C= (p.Leu676=) c.-313C= (n.-313C=) c.2149C= (p.Leu717=) c.2053C= (p.Leu685=) c.1993C= (p.Leu665=) c.1897C= (p.Leu633=)
6	g.43048525G>T	CA364221034	CUL7,KLC4	c.1870C>A (p.Leu624Met) n.2153C>A c.1966C>A (p.Leu656Met) n.2169C>A n.2204C>A c.362C>A c.-553+5017G>T (n.-553+5017G>T) c.2122C>A (p.Leu708Met) c.2026C>A (p.Leu676Met) c.-313C>A (n.-313C>A) c.2149C>A (p.Leu717Met) c.2053C>A (p.Leu685Met) c.1993C>A (p.Leu665Met) c.1897C>A (p.Leu633Met)	dbSNP COSMIC COSMIC
6	g.43048526A>C	CA450262122	CUL7,KLC4	c.1869T>G (p.Arg623=) n.2152T>G c.1965T>G (p.Arg655=) n.2168T>G n.2203T>G c.361T>G c.-553+5018A>C (n.-553+5018A>C) c.2121T>G (p.Arg707=) c.2025T>G (p.Arg675=) c.-314T>G (n.-314T>G) c.2148T>G (p.Arg716=) c.2052T>G (p.Arg684=) c.1992T>G (p.Arg664=) c.1896T>G (p.Arg632=)
6	g.43048526A>G	CA450262124	CUL7,KLC4	c.1869T>C (p.Arg623=) n.2152T>C c.1965T>C (p.Arg655=) n.2168T>C n.2203T>C c.361T>C c.-553+5018A>G (n.-553+5018A>G) c.2121T>C (p.Arg707=) c.2025T>C (p.Arg675=) c.-314T>C (n.-314T>C) c.2148T>C (p.Arg716=) c.2052T>C (p.Arg684=) c.1992T>C (p.Arg664=) c.1896T>C (p.Arg632=)
6	g.43048526A>T	CA450262126	CUL7,KLC4	c.1869T>A (p.Arg623=) n.2152T>A c.1965T>A (p.Arg655=) n.2168T>A n.2203T>A c.361T>A c.-553+5018A>T (n.-553+5018A>T) c.2121T>A (p.Arg707=) c.2025T>A (p.Arg675=) c.-314T>A (n.-314T>A) c.2148T>A (p.Arg716=) c.2052T>A (p.Arg684=) c.1992T>A (p.Arg664=) c.1896T>A (p.Arg632=)
6	g.43048527C>A	CA364221035	CUL7,KLC4	c.1868G>T (p.Arg623Leu) n.2151G>T c.1964G>T (p.Arg655Leu) n.2167G>T n.2202G>T c.360G>T c.-553+5019C>A (n.-553+5019C>A) c.2120G>T (p.Arg707Leu) c.2024G>T (p.Arg675Leu) c.-315G>T (n.-315G>T) c.2147G>T (p.Arg716Leu) c.2051G>T (p.Arg684Leu) c.1991G>T (p.Arg664Leu) c.1895G>T (p.Arg632Leu)
6	g.43048527C=	CA1624357409	CUL7,KLC4	c.1868G= (p.Arg623=) n.2151G= c.1964G= (p.Arg655=) n.2167G= n.2202G= c.360G= c.-553+5019C= (n.-553+5019C=) c.2120G= (p.Arg707=) c.2024G= (p.Arg675=) c.-315G= (n.-315G=) c.2147G= (p.Arg716=) c.2051G= (p.Arg684=) c.1991G= (p.Arg664=) c.1895G= (p.Arg632=)
6	g.43048527C>G	CA364221038	CUL7,KLC4	c.1868G>C (p.Arg623Pro) n.2151G>C c.1964G>C (p.Arg655Pro) n.2167G>C n.2202G>C c.360G>C c.-553+5019C>G (n.-553+5019C>G) c.2120G>C (p.Arg707Pro) c.2024G>C (p.Arg675Pro) c.-315G>C (n.-315G>C) c.2147G>C (p.Arg716Pro) c.2051G>C (p.Arg684Pro) c.1991G>C (p.Arg664Pro) c.1895G>C (p.Arg632Pro)
6	g.43048527C>T	CA3814045	CUL7,KLC4	c.1868G>A (p.Arg623His) n.2151G>A c.1964G>A (p.Arg655His) n.2167G>A n.2202G>A c.360G>A c.-553+5019C>T (n.-553+5019C>T) c.2120G>A (p.Arg707His) c.2024G>A (p.Arg675His) c.-315G>A (n.-315G>A) c.2147G>A (p.Arg716His) c.2051G>A (p.Arg684His) c.1991G>A (p.Arg664His) c.1895G>A (p.Arg632His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6	g.43048528G>A	CA3814046	CUL7,KLC4	c.1867C>T (p.Arg623Cys) n.2150C>T c.1963C>T (p.Arg655Cys) n.2166C>T n.2201C>T c.359C>T c.-553+5020G>A (n.-553+5020G>A) c.2119C>T (p.Arg707Cys) c.2023C>T (p.Arg675Cys) c.-316C>T (n.-316C>T) c.2146C>T (p.Arg716Cys) c.2050C>T (p.Arg684Cys) c.1990C>T (p.Arg664Cys) c.1894C>T (p.Arg632Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048528G>C	CA364221050	CUL7,KLC4	c.1867C>G (p.Arg623Gly) n.2150C>G c.1963C>G (p.Arg655Gly) n.2166C>G n.2201C>G c.359C>G c.-553+5020G>C (n.-553+5020G>C) c.2119C>G (p.Arg707Gly) c.2023C>G (p.Arg675Gly) c.-316C>G (n.-316C>G) c.2146C>G (p.Arg716Gly) c.2050C>G (p.Arg684Gly) c.1990C>G (p.Arg664Gly) c.1894C>G (p.Arg632Gly)
6	g.43048528G=	CA1624357410	CUL7,KLC4	c.1867C= (p.Arg623=) n.2150C= c.1963C= (p.Arg655=) n.2166C= n.2201C= c.359C= c.-553+5020G= (n.-553+5020G=) c.2119C= (p.Arg707=) c.2023C= (p.Arg675=) c.-316C= (n.-316C=) c.2146C= (p.Arg716=) c.2050C= (p.Arg684=) c.1990C= (p.Arg664=) c.1894C= (p.Arg632=)
6	g.43048528G>T	CA364221055	CUL7,KLC4	c.1867C>A (p.Arg623Ser) n.2150C>A c.1963C>A (p.Arg655Ser) n.2166C>A n.2201C>A c.359C>A c.-553+5020G>T (n.-553+5020G>T) c.2119C>A (p.Arg707Ser) c.2023C>A (p.Arg675Ser) c.-316C>A (n.-316C>A) c.2146C>A (p.Arg716Ser) c.2050C>A (p.Arg684Ser) c.1990C>A (p.Arg664Ser) c.1894C>A (p.Arg632Ser)
6	g.43048529C>A	CA364221060	CUL7,KLC4	c.1866G>T (p.Gln622His) n.2149G>T c.1962G>T (p.Gln654His) n.2165G>T n.2200G>T c.358G>T c.-553+5021C>A (n.-553+5021C>A) c.2118G>T (p.Gln706His) c.2022G>T (p.Gln674His) c.-317G>T (n.-317G>T) c.2145G>T (p.Gln715His) c.2049G>T (p.Gln683His) c.1989G>T (p.Gln663His) c.1893G>T (p.Gln631His)
6	g.43048529C>G	CA364221064	CUL7,KLC4	c.1866G>C (p.Gln622His) n.2149G>C c.1962G>C (p.Gln654His) n.2165G>C n.2200G>C c.358G>C c.-553+5021C>G (n.-553+5021C>G) c.2118G>C (p.Gln706His) c.2022G>C (p.Gln674His) c.-317G>C (n.-317G>C) c.2145G>C (p.Gln715His) c.2049G>C (p.Gln683His) c.1989G>C (p.Gln663His) c.1893G>C (p.Gln631His)
6	g.43048529C>T	CA450262128	CUL7,KLC4	c.1866G>A (p.Gln622=) n.2149G>A c.1962G>A (p.Gln654=) n.2165G>A n.2200G>A c.358G>A c.-553+5021C>T (n.-553+5021C>T) c.2118G>A (p.Gln706=) c.2022G>A (p.Gln674=) c.-317G>A (n.-317G>A) c.2145G>A (p.Gln715=) c.2049G>A (p.Gln683=) c.1989G>A (p.Gln663=) c.1893G>A (p.Gln631=)
6	g.43048530T>A	CA364221070	CUL7,KLC4	c.1865A>T (p.Gln622Leu) n.2148A>T c.1961A>T (p.Gln654Leu) n.2164A>T n.2199A>T c.357A>T c.-553+5022T>A (n.-553+5022T>A) c.2117A>T (p.Gln706Leu) c.2021A>T (p.Gln674Leu) c.-318A>T (n.-318A>T) c.2144A>T (p.Gln715Leu) c.2048A>T (p.Gln683Leu) c.1988A>T (p.Gln663Leu) c.1892A>T (p.Gln631Leu)	COSMIC COSMIC
6	g.43048530T>C	CA364221079	CUL7,KLC4	c.1865A>G (p.Gln622Arg) n.2148A>G c.1961A>G (p.Gln654Arg) n.2164A>G n.2199A>G c.357A>G c.-553+5022T>C (n.-553+5022T>C) c.2117A>G (p.Gln706Arg) c.2021A>G (p.Gln674Arg) c.-318A>G (n.-318A>G) c.2144A>G (p.Gln715Arg) c.2048A>G (p.Gln683Arg) c.1988A>G (p.Gln663Arg) c.1892A>G (p.Gln631Arg)
6	g.43048530T>G	CA364221082	CUL7,KLC4	c.1865A>C (p.Gln622Pro) n.2148A>C c.1961A>C (p.Gln654Pro) n.2164A>C n.2199A>C c.357A>C c.-553+5022T>G (n.-553+5022T>G) c.2117A>C (p.Gln706Pro) c.2021A>C (p.Gln674Pro) c.-318A>C (n.-318A>C) c.2144A>C (p.Gln715Pro) c.2048A>C (p.Gln683Pro) c.1988A>C (p.Gln663Pro) c.1892A>C (p.Gln631Pro)
6	g.43048531G>A	CA364221090	CUL7,KLC4	c.1864C>T (p.Gln622Ter) n.2147C>T c.1960C>T (p.Gln654Ter) n.2163C>T n.2198C>T c.356C>T c.-553+5023G>A (n.-553+5023G>A) c.2116C>T (p.Gln706Ter) c.2020C>T (p.Gln674Ter) c.-319C>T (n.-319C>T) c.2143C>T (p.Gln715Ter) c.2047C>T (p.Gln683Ter) c.1987C>T (p.Gln663Ter) c.1891C>T (p.Gln631Ter)
6	g.43048531G>C	CA364221095	CUL7,KLC4	c.1864C>G (p.Gln622Glu) n.2147C>G c.1960C>G (p.Gln654Glu) n.2163C>G n.2198C>G c.356C>G c.-553+5023G>C (n.-553+5023G>C) c.2116C>G (p.Gln706Glu) c.2020C>G (p.Gln674Glu) c.-319C>G (n.-319C>G) c.2143C>G (p.Gln715Glu) c.2047C>G (p.Gln683Glu) c.1987C>G (p.Gln663Glu) c.1891C>G (p.Gln631Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048531G=	CA1624357411	CUL7,KLC4	c.1864C= (p.Gln622=) n.2147C= c.1960C= (p.Gln654=) n.2163C= n.2198C= c.356C= c.-553+5023G= (n.-553+5023G=) c.2116C= (p.Gln706=) c.2020C= (p.Gln674=) c.-319C= (n.-319C=) c.2143C= (p.Gln715=) c.2047C= (p.Gln683=) c.1987C= (p.Gln663=) c.1891C= (p.Gln631=)
6	g.43048531G>T	CA364221093	CUL7,KLC4	c.1864C>A (p.Gln622Lys) n.2147C>A c.1960C>A (p.Gln654Lys) n.2163C>A n.2198C>A c.356C>A c.-553+5023G>T (n.-553+5023G>T) c.2116C>A (p.Gln706Lys) c.2020C>A (p.Gln674Lys) c.-319C>A (n.-319C>A) c.2143C>A (p.Gln715Lys) c.2047C>A (p.Gln683Lys) c.1987C>A (p.Gln663Lys) c.1891C>A (p.Gln631Lys)
6	g.43048532C>A	CA450262131	CUL7,KLC4	c.1863G>T (p.Leu621=) n.2146G>T c.1959G>T (p.Leu653=) n.2162G>T n.2197G>T c.355G>T c.-553+5024C>A (n.-553+5024C>A) c.2115G>T (p.Leu705=) c.2019G>T (p.Leu673=) c.-320G>T (n.-320G>T) c.2142G>T (p.Leu714=) c.2046G>T (p.Leu682=) c.1986G>T (p.Leu662=) c.1890G>T (p.Leu630=)
6	g.43048532C>G	CA450262132	CUL7,KLC4	c.1863G>C (p.Leu621=) n.2146G>C c.1959G>C (p.Leu653=) n.2162G>C n.2197G>C c.355G>C c.-553+5024C>G (n.-553+5024C>G) c.2115G>C (p.Leu705=) c.2019G>C (p.Leu673=) c.-320G>C (n.-320G>C) c.2142G>C (p.Leu714=) c.2046G>C (p.Leu682=) c.1986G>C (p.Leu662=) c.1890G>C (p.Leu630=)
6	g.43048532C>T	CA450262133	CUL7,KLC4	c.1863G>A (p.Leu621=) n.2146G>A c.1959G>A (p.Leu653=) n.2162G>A n.2197G>A c.355G>A c.-553+5024C>T (n.-553+5024C>T) c.2115G>A (p.Leu705=) c.2019G>A (p.Leu673=) c.-320G>A (n.-320G>A) c.2142G>A (p.Leu714=) c.2046G>A (p.Leu682=) c.1986G>A (p.Leu662=) c.1890G>A (p.Leu630=)
6	g.43048533A=	CA1624357412	CUL7,KLC4	c.1862T= (p.Leu621=) n.2145T= c.1958T= (p.Leu653=) n.2161T= n.2196T= c.354T= c.-553+5025A= (n.-553+5025A=) c.2114T= (p.Leu705=) c.2018T= (p.Leu673=) c.-321T= (n.-321T=) c.2141T= (p.Leu714=) c.2045T= (p.Leu682=) c.1985T= (p.Leu662=) c.1889T= (p.Leu630=)
6	g.43048533A>C	CA3814047	CUL7,KLC4	c.1862T>G (p.Leu621Arg) n.2145T>G c.1958T>G (p.Leu653Arg) n.2161T>G n.2196T>G c.354T>G c.-553+5025A>C (n.-553+5025A>C) c.2114T>G (p.Leu705Arg) c.2018T>G (p.Leu673Arg) c.-321T>G (n.-321T>G) c.2141T>G (p.Leu714Arg) c.2045T>G (p.Leu682Arg) c.1985T>G (p.Leu662Arg) c.1889T>G (p.Leu630Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.43048533A>G	CA364221116	CUL7,KLC4	c.1862T>C (p.Leu621Pro) n.2145T>C c.1958T>C (p.Leu653Pro) n.2161T>C n.2196T>C c.354T>C c.-553+5025A>G (n.-553+5025A>G) c.2114T>C (p.Leu705Pro) c.2018T>C (p.Leu673Pro) c.-321T>C (n.-321T>C) c.2141T>C (p.Leu714Pro) c.2045T>C (p.Leu682Pro) c.1985T>C (p.Leu662Pro) c.1889T>C (p.Leu630Pro)
6	g.43048533A>T	CA364221120	CUL7,KLC4	c.1862T>A (p.Leu621Gln) n.2145T>A c.1958T>A (p.Leu653Gln) n.2161T>A n.2196T>A c.354T>A c.-553+5025A>T (n.-553+5025A>T) c.2114T>A (p.Leu705Gln) c.2018T>A (p.Leu673Gln) c.-321T>A (n.-321T>A) c.2141T>A (p.Leu714Gln) c.2045T>A (p.Leu682Gln) c.1985T>A (p.Leu662Gln) c.1889T>A (p.Leu630Gln)
6	g.43048534G>A	CA450262138	CUL7,KLC4	c.1861C>T (p.Leu621=) n.2144C>T c.1957C>T (p.Leu653=) n.2160C>T n.2195C>T c.353C>T c.-553+5026G>A (n.-553+5026G>A) c.2113C>T (p.Leu705=) c.2017C>T (p.Leu673=) c.-322C>T (n.-322C>T) c.2140C>T (p.Leu714=) c.2044C>T (p.Leu682=) c.1984C>T (p.Leu662=) c.1888C>T (p.Leu630=)	dbSNP
6	g.43048534G>C	CA364221124	CUL7,KLC4	c.1861C>G (p.Leu621Val) n.2144C>G c.1957C>G (p.Leu653Val) n.2160C>G n.2195C>G c.353C>G c.-553+5026G>C (n.-553+5026G>C) c.2113C>G (p.Leu705Val) c.2017C>G (p.Leu673Val) c.-322C>G (n.-322C>G) c.2140C>G (p.Leu714Val) c.2044C>G (p.Leu682Val) c.1984C>G (p.Leu662Val) c.1888C>G (p.Leu630Val)	dbSNP gnomAD v3 gnomAD v4
6	g.43048534G=	CA1624357413	CUL7,KLC4	c.1861C= (p.Leu621=) n.2144C= c.1957C= (p.Leu653=) n.2160C= n.2195C= c.353C= c.-553+5026G= (n.-553+5026G=) c.2113C= (p.Leu705=) c.2017C= (p.Leu673=) c.-322C= (n.-322C=) c.2140C= (p.Leu714=) c.2044C= (p.Leu682=) c.1984C= (p.Leu662=) c.1888C= (p.Leu630=)
6	g.43048534G>T	CA364221128	CUL7,KLC4	c.1861C>A (p.Leu621Met) n.2144C>A c.1957C>A (p.Leu653Met) n.2160C>A n.2195C>A c.353C>A c.-553+5026G>T (n.-553+5026G>T) c.2113C>A (p.Leu705Met) c.2017C>A (p.Leu673Met) c.-322C>A (n.-322C>A) c.2140C>A (p.Leu714Met) c.2044C>A (p.Leu682Met) c.1984C>A (p.Leu662Met) c.1888C>A (p.Leu630Met)
6	g.43048537del	CA2678807750	CUL7,KLC4	c.1861del (p.Leu621CysfsTer18) n.2144del c.1957del (p.Leu653CysfsTer18) n.2160del n.2195del c.353del c.-553+5029del (n.-553+5029del) c.2113del (p.Leu705CysfsTer18) c.2017del (p.Leu673CysfsTer18) c.-322del (n.-322del) c.2140del (p.Leu714CysfsTer18) c.2044del (p.Leu682CysfsTer18) c.1984del (p.Leu662CysfsTer18) c.1888del (p.Leu630CysfsTer18)	dbSNP gnomAD v4
6	g.43048535G>A	CA450262141	CUL7,KLC4	c.1860C>T (p.Pro620=) n.2143C>T c.1956C>T (p.Pro652=) n.2159C>T n.2194C>T c.352C>T c.-553+5027G>A (n.-553+5027G>A) c.2112C>T (p.Pro704=) c.2016C>T (p.Pro672=) c.-323C>T (n.-323C>T) c.2139C>T (p.Pro713=) c.2043C>T (p.Pro681=) c.1983C>T (p.Pro661=) c.1887C>T (p.Pro629=)	dbSNP
6	g.43048535G>C	CA450262140	CUL7,KLC4	c.1860C>G (p.Pro620=) n.2143C>G c.1956C>G (p.Pro652=) n.2159C>G n.2194C>G c.352C>G c.-553+5027G>C (n.-553+5027G>C) c.2112C>G (p.Pro704=) c.2016C>G (p.Pro672=) c.-323C>G (n.-323C>G) c.2139C>G (p.Pro713=) c.2043C>G (p.Pro681=) c.1983C>G (p.Pro661=) c.1887C>G (p.Pro629=)
6	g.43048535G>T	CA450262139	CUL7,KLC4	c.1860C>A (p.Pro620=) n.2143C>A c.1956C>A (p.Pro652=) n.2159C>A n.2194C>A c.352C>A c.-553+5027G>T (n.-553+5027G>T) c.2112C>A (p.Pro704=) c.2016C>A (p.Pro672=) c.-323C>A (n.-323C>A) c.2139C>A (p.Pro713=) c.2043C>A (p.Pro681=) c.1983C>A (p.Pro661=) c.1887C>A (p.Pro629=)
6	g.43048536G>A	CA3814048	CUL7,KLC4	c.1859C>T (p.Pro620Leu) n.2142C>T c.1955C>T (p.Pro652Leu) n.2158C>T n.2193C>T c.351C>T c.-553+5028G>A (n.-553+5028G>A) c.2111C>T (p.Pro704Leu) c.2015C>T (p.Pro672Leu) c.-324C>T (n.-324C>T) c.2138C>T (p.Pro713Leu) c.2042C>T (p.Pro681Leu) c.1982C>T (p.Pro661Leu) c.1886C>T (p.Pro629Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.43048536G>C	CA364221138	CUL7,KLC4	c.1859C>G (p.Pro620Arg) n.2142C>G c.1955C>G (p.Pro652Arg) n.2158C>G n.2193C>G c.351C>G c.-553+5028G>C (n.-553+5028G>C) c.2111C>G (p.Pro704Arg) c.2015C>G (p.Pro672Arg) c.-324C>G (n.-324C>G) c.2138C>G (p.Pro713Arg) c.2042C>G (p.Pro681Arg) c.1982C>G (p.Pro661Arg) c.1886C>G (p.Pro629Arg)
6	g.43048536G=	CA1624357414	CUL7,KLC4	c.1859C= (p.Pro620=) n.2142C= c.1955C= (p.Pro652=) n.2158C= n.2193C= c.351C= c.-553+5028G= (n.-553+5028G=) c.2111C= (p.Pro704=) c.2015C= (p.Pro672=) c.-324C= (n.-324C=) c.2138C= (p.Pro713=) c.2042C= (p.Pro681=) c.1982C= (p.Pro661=) c.1886C= (p.Pro629=)
6	g.43048536G>T	CA364221141	CUL7,KLC4	c.1859C>A (p.Pro620His) n.2142C>A c.1955C>A (p.Pro652His) n.2158C>A n.2193C>A c.351C>A c.-553+5028G>T (n.-553+5028G>T) c.2111C>A (p.Pro704His) c.2015C>A (p.Pro672His) c.-324C>A (n.-324C>A) c.2138C>A (p.Pro713His) c.2042C>A (p.Pro681His) c.1982C>A (p.Pro661His) c.1886C>A (p.Pro629His)
6	g.43048537G>A	CA364221147	CUL7,KLC4	c.1858C>T (p.Pro620Ser) n.2141C>T c.1954C>T (p.Pro652Ser) n.2157C>T n.2192C>T c.350C>T c.-553+5029G>A (n.-553+5029G>A) c.2110C>T (p.Pro704Ser) c.2014C>T (p.Pro672Ser) c.-325C>T (n.-325C>T) c.2137C>T (p.Pro713Ser) c.2041C>T (p.Pro681Ser) c.1981C>T (p.Pro661Ser) c.1885C>T (p.Pro629Ser)
6	g.43048537G>C	CA364221151	CUL7,KLC4	c.1858C>G (p.Pro620Ala) n.2141C>G c.1954C>G (p.Pro652Ala) n.2157C>G n.2192C>G c.350C>G c.-553+5029G>C (n.-553+5029G>C) c.2110C>G (p.Pro704Ala) c.2014C>G (p.Pro672Ala) c.-325C>G (n.-325C>G) c.2137C>G (p.Pro713Ala) c.2041C>G (p.Pro681Ala) c.1981C>G (p.Pro661Ala) c.1885C>G (p.Pro629Ala)	dbSNP gnomAD v2 gnomAD v4
6	g.43048537G=	CA1624357415	CUL7,KLC4	c.1858C= (p.Pro620=) n.2141C= c.1954C= (p.Pro652=) n.2157C= n.2192C= c.350C= c.-553+5029G= (n.-553+5029G=) c.2110C= (p.Pro704=) c.2014C= (p.Pro672=) c.-325C= (n.-325C=) c.2137C= (p.Pro713=) c.2041C= (p.Pro681=) c.1981C= (p.Pro661=) c.1885C= (p.Pro629=)
6	g.43048537G>T	CA364221154	CUL7,KLC4	c.1858C>A (p.Pro620Thr) n.2141C>A c.1954C>A (p.Pro652Thr) n.2157C>A n.2192C>A c.350C>A c.-553+5029G>T (n.-553+5029G>T) c.2110C>A (p.Pro704Thr) c.2014C>A (p.Pro672Thr) c.-325C>A (n.-325C>A) c.2137C>A (p.Pro713Thr) c.2041C>A (p.Pro681Thr) c.1981C>A (p.Pro661Thr) c.1885C>A (p.Pro629Thr)
6	g.43048538A=	CA1624357416	CUL7,KLC4	c.1857T= (p.Thr619=) n.2140T= c.1953T= (p.Thr651=) n.2156T= n.2191T= c.349T= c.-553+5030A= (n.-553+5030A=) c.2109T= (p.Thr703=) c.2013T= (p.Thr671=) c.-326T= (n.-326T=) c.2136T= (p.Thr712=) c.2040T= (p.Thr680=) c.1980T= (p.Thr660=) c.1884T= (p.Thr628=)
6	g.43048538A>C	CA450262148	CUL7,KLC4	c.1857T>G (p.Thr619=) n.2140T>G c.1953T>G (p.Thr651=) n.2156T>G n.2191T>G c.349T>G c.-553+5030A>C (n.-553+5030A>C) c.2109T>G (p.Thr703=) c.2013T>G (p.Thr671=) c.-326T>G (n.-326T>G) c.2136T>G (p.Thr712=) c.2040T>G (p.Thr680=) c.1980T>G (p.Thr660=) c.1884T>G (p.Thr628=)	dbSNP
6	g.43048538A>G	CA450262149	CUL7,KLC4	c.1857T>C (p.Thr619=) n.2140T>C c.1953T>C (p.Thr651=) n.2156T>C n.2191T>C c.349T>C c.-553+5030A>G (n.-553+5030A>G) c.2109T>C (p.Thr703=) c.2013T>C (p.Thr671=) c.-326T>C (n.-326T>C) c.2136T>C (p.Thr712=) c.2040T>C (p.Thr680=) c.1980T>C (p.Thr660=) c.1884T>C (p.Thr628=)
6	g.43048538A>T	CA450262150	CUL7,KLC4	c.1857T>A (p.Thr619=) n.2140T>A c.1953T>A (p.Thr651=) n.2156T>A n.2191T>A c.349T>A c.-553+5030A>T (n.-553+5030A>T) c.2109T>A (p.Thr703=) c.2013T>A (p.Thr671=) c.-326T>A (n.-326T>A) c.2136T>A (p.Thr712=) c.2040T>A (p.Thr680=) c.1980T>A (p.Thr660=) c.1884T>A (p.Thr628=)
6	g.43048539G>A	CA364221168	CUL7,KLC4	c.1856C>T (p.Thr619Ile) n.2139C>T c.1952C>T (p.Thr651Ile) n.2155C>T n.2190C>T c.348C>T c.-553+5031G>A (n.-553+5031G>A) c.2108C>T (p.Thr703Ile) c.2012C>T (p.Thr671Ile) c.-327C>T (n.-327C>T) c.2135C>T (p.Thr712Ile) c.2039C>T (p.Thr680Ile) c.1979C>T (p.Thr660Ile) c.1883C>T (p.Thr628Ile)	dbSNP gnomAD v2 gnomAD v4
6	g.43048539G>C	CA364221166	CUL7,KLC4	c.1856C>G (p.Thr619Ser) n.2139C>G c.1952C>G (p.Thr651Ser) n.2155C>G n.2190C>G c.348C>G c.-553+5031G>C (n.-553+5031G>C) c.2108C>G (p.Thr703Ser) c.2012C>G (p.Thr671Ser) c.-327C>G (n.-327C>G) c.2135C>G (p.Thr712Ser) c.2039C>G (p.Thr680Ser) c.1979C>G (p.Thr660Ser) c.1883C>G (p.Thr628Ser)	gnomAD v4
6	g.43048539G=	CA1624357417	CUL7,KLC4	c.1856C= (p.Thr619=) n.2139C= c.1952C= (p.Thr651=) n.2155C= n.2190C= c.348C= c.-553+5031G= (n.-553+5031G=) c.2108C= (p.Thr703=) c.2012C= (p.Thr671=) c.-327C= (n.-327C=) c.2135C= (p.Thr712=) c.2039C= (p.Thr680=) c.1979C= (p.Thr660=) c.1883C= (p.Thr628=)
6	g.43048539G>T	CA364221163	CUL7,KLC4	c.1856C>A (p.Thr619Asn) n.2139C>A c.1952C>A (p.Thr651Asn) n.2155C>A n.2190C>A c.348C>A c.-553+5031G>T (n.-553+5031G>T) c.2108C>A (p.Thr703Asn) c.2012C>A (p.Thr671Asn) c.-327C>A (n.-327C>A) c.2135C>A (p.Thr712Asn) c.2039C>A (p.Thr680Asn) c.1979C>A (p.Thr660Asn) c.1883C>A (p.Thr628Asn)

Number of alleles fetched