Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.43048413_43048424dupCA2711878149CUL7,KLC4c.1976_1987dup (p.Gln662_Pro663insLeuGlnArgGln)
n.2259_2270dup
c.2072_2083dup (p.Gln694_Pro695insLeuGlnArgGln)
n.2275_2286dup
n.2310_2321dup
c.468_479dup
c.-553+4905_-553+4916dup (n.-553+4905_-553+4916dup)
c.2228_2239dup (p.Gln746_Pro747insLeuGlnArgGln)
c.2132_2143dup (p.Gln714_Pro715insLeuGlnArgGln)
c.-207_-196dup (n.-207_-196dup)
c.2255_2266dup (p.Gln755_Pro756insLeuGlnArgGln)
c.2159_2170dup (p.Gln723_Pro724insLeuGlnArgGln)
c.2099_2110dup (p.Gln703_Pro704insLeuGlnArgGln)
c.2003_2014dup (p.Gln671_Pro672insLeuGlnArgGln)
 dbSNP
6g.43048422_43048427dupCA567150902CUL7,KLC4c.1976_1981dup (p.Gln660_Arg661insLeuGln)
n.2259_2264dup
c.2072_2077dup (p.Gln692_Arg693insLeuGln)
n.2275_2280dup
n.2310_2315dup
c.468_473dup
c.-553+4914_-553+4919dup (n.-553+4914_-553+4919dup)
c.2228_2233dup (p.Gln744_Arg745insLeuGln)
c.2132_2137dup (p.Gln712_Arg713insLeuGln)
c.-207_-202dup (n.-207_-202dup)
c.2255_2260dup (p.Gln753_Arg754insLeuGln)
c.2159_2164dup (p.Gln721_Arg722insLeuGln)
c.2099_2104dup (p.Gln701_Arg702insLeuGln)
c.2003_2008dup (p.Gln669_Arg670insLeuGln)
 dbSNP gnomAD v2 gnomAD v4
6g.43048421C>ACA364220247CUL7,KLC4c.1974G>T (p.Gln658His)
n.2257G>T
c.2070G>T (p.Gln690His)
n.2273G>T
n.2308G>T
c.466G>T
c.-553+4913C>A (n.-553+4913C>A)
c.2226G>T (p.Gln742His)
c.2130G>T (p.Gln710His)
c.-209G>T (n.-209G>T)
c.2253G>T (p.Gln751His)
c.2157G>T (p.Gln719His)
c.2097G>T (p.Gln699His)
c.2001G>T (p.Gln667His)
6g.43048421C>GCA364220249CUL7,KLC4c.1974G>C (p.Gln658His)
n.2257G>C
c.2070G>C (p.Gln690His)
n.2273G>C
n.2308G>C
c.466G>C
c.-553+4913C>G (n.-553+4913C>G)
c.2226G>C (p.Gln742His)
c.2130G>C (p.Gln710His)
c.-209G>C (n.-209G>C)
c.2253G>C (p.Gln751His)
c.2157G>C (p.Gln719His)
c.2097G>C (p.Gln699His)
c.2001G>C (p.Gln667His)
6g.43048421C>TCA450261899CUL7,KLC4c.1974G>A (p.Gln658=)
n.2257G>A
c.2070G>A (p.Gln690=)
n.2273G>A
n.2308G>A
c.466G>A
c.-553+4913C>T (n.-553+4913C>T)
c.2226G>A (p.Gln742=)
c.2130G>A (p.Gln710=)
c.-209G>A (n.-209G>A)
c.2253G>A (p.Gln751=)
c.2157G>A (p.Gln719=)
c.2097G>A (p.Gln699=)
c.2001G>A (p.Gln667=)
6g.43048422T>ACA364220253CUL7,KLC4c.1973A>T (p.Gln658Leu)
n.2256A>T
c.2069A>T (p.Gln690Leu)
n.2272A>T
n.2307A>T
c.465A>T
c.-553+4914T>A (n.-553+4914T>A)
c.2225A>T (p.Gln742Leu)
c.2129A>T (p.Gln710Leu)
c.-210A>T (n.-210A>T)
c.2252A>T (p.Gln751Leu)
c.2156A>T (p.Gln719Leu)
c.2096A>T (p.Gln699Leu)
c.2000A>T (p.Gln667Leu)
6g.43048422T>CCA364220256CUL7,KLC4c.1973A>G (p.Gln658Arg)
n.2256A>G
c.2069A>G (p.Gln690Arg)
n.2272A>G
n.2307A>G
c.465A>G
c.-553+4914T>C (n.-553+4914T>C)
c.2225A>G (p.Gln742Arg)
c.2129A>G (p.Gln710Arg)
c.-210A>G (n.-210A>G)
c.2252A>G (p.Gln751Arg)
c.2156A>G (p.Gln719Arg)
c.2096A>G (p.Gln699Arg)
c.2000A>G (p.Gln667Arg)
 gnomAD v4
6g.43048422T>GCA364220257CUL7,KLC4c.1973A>C (p.Gln658Pro)
n.2256A>C
c.2069A>C (p.Gln690Pro)
n.2272A>C
n.2307A>C
c.465A>C
c.-553+4914T>G (n.-553+4914T>G)
c.2225A>C (p.Gln742Pro)
c.2129A>C (p.Gln710Pro)
c.-210A>C (n.-210A>C)
c.2252A>C (p.Gln751Pro)
c.2156A>C (p.Gln719Pro)
c.2096A>C (p.Gln699Pro)
c.2000A>C (p.Gln667Pro)
6g.43048423G>ACA364220260CUL7,KLC4c.1972C>T (p.Gln658Ter)
n.2255C>T
c.2068C>T (p.Gln690Ter)
n.2271C>T
n.2306C>T
c.464C>T
c.-553+4915G>A (n.-553+4915G>A)
c.2224C>T (p.Gln742Ter)
c.2128C>T (p.Gln710Ter)
c.-211C>T (n.-211C>T)
c.2251C>T (p.Gln751Ter)
c.2155C>T (p.Gln719Ter)
c.2095C>T (p.Gln699Ter)
c.1999C>T (p.Gln667Ter)
6g.43048423G>CCA364220262CUL7,KLC4c.1972C>G (p.Gln658Glu)
n.2255C>G
c.2068C>G (p.Gln690Glu)
n.2271C>G
n.2306C>G
c.464C>G
c.-553+4915G>C (n.-553+4915G>C)
c.2224C>G (p.Gln742Glu)
c.2128C>G (p.Gln710Glu)
c.-211C>G (n.-211C>G)
c.2251C>G (p.Gln751Glu)
c.2155C>G (p.Gln719Glu)
c.2095C>G (p.Gln699Glu)
c.1999C>G (p.Gln667Glu)
6g.43048423G>TCA364220266CUL7,KLC4c.1972C>A (p.Gln658Lys)
n.2255C>A
c.2068C>A (p.Gln690Lys)
n.2271C>A
n.2306C>A
c.464C>A
c.-553+4915G>T (n.-553+4915G>T)
c.2224C>A (p.Gln742Lys)
c.2128C>A (p.Gln710Lys)
c.-211C>A (n.-211C>A)
c.2251C>A (p.Gln751Lys)
c.2155C>A (p.Gln719Lys)
c.2095C>A (p.Gln699Lys)
c.1999C>A (p.Gln667Lys)
6g.43048424C>ACA450261905CUL7,KLC4c.1971G>T (p.Leu657=)
n.2254G>T
c.2067G>T (p.Leu689=)
n.2270G>T
n.2305G>T
c.463G>T
c.-553+4916C>A (n.-553+4916C>A)
c.2223G>T (p.Leu741=)
c.2127G>T (p.Leu709=)
c.-212G>T (n.-212G>T)
c.2250G>T (p.Leu750=)
c.2154G>T (p.Leu718=)
c.2094G>T (p.Leu698=)
c.1998G>T (p.Leu666=)
6g.43048424C>GCA450261906CUL7,KLC4c.1971G>C (p.Leu657=)
n.2254G>C
c.2067G>C (p.Leu689=)
n.2270G>C
n.2305G>C
c.463G>C
c.-553+4916C>G (n.-553+4916C>G)
c.2223G>C (p.Leu741=)
c.2127G>C (p.Leu709=)
c.-212G>C (n.-212G>C)
c.2250G>C (p.Leu750=)
c.2154G>C (p.Leu718=)
c.2094G>C (p.Leu698=)
c.1998G>C (p.Leu666=)
6g.43048424C>TCA450261904CUL7,KLC4c.1971G>A (p.Leu657=)
n.2254G>A
c.2067G>A (p.Leu689=)
n.2270G>A
n.2305G>A
c.463G>A
c.-553+4916C>T (n.-553+4916C>T)
c.2223G>A (p.Leu741=)
c.2127G>A (p.Leu709=)
c.-212G>A (n.-212G>A)
c.2250G>A (p.Leu750=)
c.2154G>A (p.Leu718=)
c.2094G>A (p.Leu698=)
c.1998G>A (p.Leu666=)
6g.43048425A>CCA364220268CUL7,KLC4c.1970T>G (p.Leu657Arg)
n.2253T>G
c.2066T>G (p.Leu689Arg)
n.2269T>G
n.2304T>G
c.462T>G
c.-553+4917A>C (n.-553+4917A>C)
c.2222T>G (p.Leu741Arg)
c.2126T>G (p.Leu709Arg)
c.-213T>G (n.-213T>G)
c.2249T>G (p.Leu750Arg)
c.2153T>G (p.Leu718Arg)
c.2093T>G (p.Leu698Arg)
c.1997T>G (p.Leu666Arg)
6g.43048425A>GCA364220270CUL7,KLC4c.1970T>C (p.Leu657Pro)
n.2253T>C
c.2066T>C (p.Leu689Pro)
n.2269T>C
n.2304T>C
c.462T>C
c.-553+4917A>G (n.-553+4917A>G)
c.2222T>C (p.Leu741Pro)
c.2126T>C (p.Leu709Pro)
c.-213T>C (n.-213T>C)
c.2249T>C (p.Leu750Pro)
c.2153T>C (p.Leu718Pro)
c.2093T>C (p.Leu698Pro)
c.1997T>C (p.Leu666Pro)
6g.43048425A>TCA364220271CUL7,KLC4c.1970T>A (p.Leu657Gln)
n.2253T>A
c.2066T>A (p.Leu689Gln)
n.2269T>A
n.2304T>A
c.462T>A
c.-553+4917A>T (n.-553+4917A>T)
c.2222T>A (p.Leu741Gln)
c.2126T>A (p.Leu709Gln)
c.-213T>A (n.-213T>A)
c.2249T>A (p.Leu750Gln)
c.2153T>A (p.Leu718Gln)
c.2093T>A (p.Leu698Gln)
c.1997T>A (p.Leu666Gln)
6g.43048426G>ACA450261908CUL7,KLC4c.1969C>T (p.Leu657=)
n.2252C>T
c.2065C>T (p.Leu689=)
n.2268C>T
n.2303C>T
c.461C>T
c.-553+4918G>A (n.-553+4918G>A)
c.2221C>T (p.Leu741=)
c.2125C>T (p.Leu709=)
c.-214C>T (n.-214C>T)
c.2248C>T (p.Leu750=)
c.2152C>T (p.Leu718=)
c.2092C>T (p.Leu698=)
c.1996C>T (p.Leu666=)
6g.43048426G>CCA364220273CUL7,KLC4c.1969C>G (p.Leu657Val)
n.2252C>G
c.2065C>G (p.Leu689Val)
n.2268C>G
n.2303C>G
c.461C>G
c.-553+4918G>C (n.-553+4918G>C)
c.2221C>G (p.Leu741Val)
c.2125C>G (p.Leu709Val)
c.-214C>G (n.-214C>G)
c.2248C>G (p.Leu750Val)
c.2152C>G (p.Leu718Val)
c.2092C>G (p.Leu698Val)
c.1996C>G (p.Leu666Val)
 gnomAD v4
6g.43048426G>TCA364220275CUL7,KLC4c.1969C>A (p.Leu657Met)
n.2252C>A
c.2065C>A (p.Leu689Met)
n.2268C>A
n.2303C>A
c.461C>A
c.-553+4918G>T (n.-553+4918G>T)
c.2221C>A (p.Leu741Met)
c.2125C>A (p.Leu709Met)
c.-214C>A (n.-214C>A)
c.2248C>A (p.Leu750Met)
c.2152C>A (p.Leu718Met)
c.2092C>A (p.Leu698Met)
c.1996C>A (p.Leu666Met)
6g.43048427C>ACA450261911CUL7,KLC4c.1968G>T (p.Leu656=)
n.2251G>T
c.2064G>T (p.Leu688=)
n.2267G>T
n.2302G>T
c.460G>T
c.-553+4919C>A (n.-553+4919C>A)
c.2220G>T (p.Leu740=)
c.2124G>T (p.Leu708=)
c.-215G>T (n.-215G>T)
c.2247G>T (p.Leu749=)
c.2151G>T (p.Leu717=)
c.2091G>T (p.Leu697=)
c.1995G>T (p.Leu665=)
6g.43048427C=CA1624357361CUL7,KLC4c.1968G= (p.Leu656=)
n.2251G=
c.2064G= (p.Leu688=)
n.2267G=
n.2302G=
c.460G=
c.-553+4919C= (n.-553+4919C=)
c.2220G= (p.Leu740=)
c.2124G= (p.Leu708=)
c.-215G= (n.-215G=)
c.2247G= (p.Leu749=)
c.2151G= (p.Leu717=)
c.2091G= (p.Leu697=)
c.1995G= (p.Leu665=)
6g.43048427C>GCA450261912CUL7,KLC4c.1968G>C (p.Leu656=)
n.2251G>C
c.2064G>C (p.Leu688=)
n.2267G>C
n.2302G>C
c.460G>C
c.-553+4919C>G (n.-553+4919C>G)
c.2220G>C (p.Leu740=)
c.2124G>C (p.Leu708=)
c.-215G>C (n.-215G>C)
c.2247G>C (p.Leu749=)
c.2151G>C (p.Leu717=)
c.2091G>C (p.Leu697=)
c.1995G>C (p.Leu665=)
6g.43048427C>TCA3814032CUL7,KLC4c.1968G>A (p.Leu656=)
n.2251G>A
c.2064G>A (p.Leu688=)
n.2267G>A
n.2302G>A
c.460G>A
c.-553+4919C>T (n.-553+4919C>T)
c.2220G>A (p.Leu740=)
c.2124G>A (p.Leu708=)
c.-215G>A (n.-215G>A)
c.2247G>A (p.Leu749=)
c.2151G>A (p.Leu717=)
c.2091G>A (p.Leu697=)
c.1995G>A (p.Leu665=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43048427dupCA2770820624CUL7,KLC4c.1968dup (p.Leu657AlafsTer23)
n.2251dup
c.2064dup (p.Leu689AlafsTer23)
n.2267dup
n.2302dup
c.460dup
c.-553+4919dup (n.-553+4919dup)
c.2220dup (p.Leu741AlafsTer23)
c.2124dup (p.Leu709AlafsTer23)
c.-215dup (n.-215dup)
c.2247dup (p.Leu750AlafsTer23)
c.2151dup (p.Leu718AlafsTer23)
c.2091dup (p.Leu698AlafsTer23)
c.1995dup (p.Leu666AlafsTer23)
6g.43048428A>CCA364220287CUL7,KLC4c.1967T>G (p.Leu656Arg)
n.2250T>G
c.2063T>G (p.Leu688Arg)
n.2266T>G
n.2301T>G
c.459T>G
c.-553+4920A>C (n.-553+4920A>C)
c.2219T>G (p.Leu740Arg)
c.2123T>G (p.Leu708Arg)
c.-216T>G (n.-216T>G)
c.2246T>G (p.Leu749Arg)
c.2150T>G (p.Leu717Arg)
c.2090T>G (p.Leu697Arg)
c.1994T>G (p.Leu665Arg)
6g.43048428A>GCA364220284CUL7,KLC4c.1967T>C (p.Leu656Pro)
n.2250T>C
c.2063T>C (p.Leu688Pro)
n.2266T>C
n.2301T>C
c.459T>C
c.-553+4920A>G (n.-553+4920A>G)
c.2219T>C (p.Leu740Pro)
c.2123T>C (p.Leu708Pro)
c.-216T>C (n.-216T>C)
c.2246T>C (p.Leu749Pro)
c.2150T>C (p.Leu717Pro)
c.2090T>C (p.Leu697Pro)
c.1994T>C (p.Leu665Pro)
6g.43048428A>TCA364220285CUL7,KLC4c.1967T>A (p.Leu656Gln)
n.2250T>A
c.2063T>A (p.Leu688Gln)
n.2266T>A
n.2301T>A
c.459T>A
c.-553+4920A>T (n.-553+4920A>T)
c.2219T>A (p.Leu740Gln)
c.2123T>A (p.Leu708Gln)
c.-216T>A (n.-216T>A)
c.2246T>A (p.Leu749Gln)
c.2150T>A (p.Leu717Gln)
c.2090T>A (p.Leu697Gln)
c.1994T>A (p.Leu665Gln)
6g.43048429G>ACA450261916CUL7,KLC4c.1966C>T (p.Leu656=)
n.2249C>T
c.2062C>T (p.Leu688=)
n.2265C>T
n.2300C>T
c.458C>T
c.-553+4921G>A (n.-553+4921G>A)
c.2218C>T (p.Leu740=)
c.2122C>T (p.Leu708=)
c.-217C>T (n.-217C>T)
c.2245C>T (p.Leu749=)
c.2149C>T (p.Leu717=)
c.2089C>T (p.Leu697=)
c.1993C>T (p.Leu665=)
 gnomAD v4
6g.43048429G>CCA364220291CUL7,KLC4c.1966C>G (p.Leu656Val)
n.2249C>G
c.2062C>G (p.Leu688Val)
n.2265C>G
n.2300C>G
c.458C>G
c.-553+4921G>C (n.-553+4921G>C)
c.2218C>G (p.Leu740Val)
c.2122C>G (p.Leu708Val)
c.-217C>G (n.-217C>G)
c.2245C>G (p.Leu749Val)
c.2149C>G (p.Leu717Val)
c.2089C>G (p.Leu697Val)
c.1993C>G (p.Leu665Val)
6g.43048429G>TCA364220292CUL7,KLC4c.1966C>A (p.Leu656Met)
n.2249C>A
c.2062C>A (p.Leu688Met)
n.2265C>A
n.2300C>A
c.458C>A
c.-553+4921G>T (n.-553+4921G>T)
c.2218C>A (p.Leu740Met)
c.2122C>A (p.Leu708Met)
c.-217C>A (n.-217C>A)
c.2245C>A (p.Leu749Met)
c.2149C>A (p.Leu717Met)
c.2089C>A (p.Leu697Met)
c.1993C>A (p.Leu665Met)
6g.43048430G>ACA450261917CUL7,KLC4c.1965C>T (p.Leu655=)
n.2248C>T
c.2061C>T (p.Leu687=)
n.2264C>T
n.2299C>T
c.457C>T
c.-553+4922G>A (n.-553+4922G>A)
c.2217C>T (p.Leu739=)
c.2121C>T (p.Leu707=)
c.-218C>T (n.-218C>T)
c.2244C>T (p.Leu748=)
c.2148C>T (p.Leu716=)
c.2088C>T (p.Leu696=)
c.1992C>T (p.Leu664=)
6g.43048430G>CCA450261918CUL7,KLC4c.1965C>G (p.Leu655=)
n.2248C>G
c.2061C>G (p.Leu687=)
n.2264C>G
n.2299C>G
c.457C>G
c.-553+4922G>C (n.-553+4922G>C)
c.2217C>G (p.Leu739=)
c.2121C>G (p.Leu707=)
c.-218C>G (n.-218C>G)
c.2244C>G (p.Leu748=)
c.2148C>G (p.Leu716=)
c.2088C>G (p.Leu696=)
c.1992C>G (p.Leu664=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43048430G=CA1624357362CUL7,KLC4c.1965C= (p.Leu655=)
n.2248C=
c.2061C= (p.Leu687=)
n.2264C=
n.2299C=
c.457C=
c.-553+4922G= (n.-553+4922G=)
c.2217C= (p.Leu739=)
c.2121C= (p.Leu707=)
c.-218C= (n.-218C=)
c.2244C= (p.Leu748=)
c.2148C= (p.Leu716=)
c.2088C= (p.Leu696=)
c.1992C= (p.Leu664=)
6g.43048430G>TCA450261920CUL7,KLC4c.1965C>A (p.Leu655=)
n.2248C>A
c.2061C>A (p.Leu687=)
n.2264C>A
n.2299C>A
c.457C>A
c.-553+4922G>T (n.-553+4922G>T)
c.2217C>A (p.Leu739=)
c.2121C>A (p.Leu707=)
c.-218C>A (n.-218C>A)
c.2244C>A (p.Leu748=)
c.2148C>A (p.Leu716=)
c.2088C>A (p.Leu696=)
c.1992C>A (p.Leu664=)
6g.43048431A=CA1624357363CUL7,KLC4c.1964T= (p.Leu655=)
n.2247T=
c.2060T= (p.Leu687=)
n.2263T=
n.2298T=
c.456T=
c.-553+4923A= (n.-553+4923A=)
c.2216T= (p.Leu739=)
c.2120T= (p.Leu707=)
c.-219T= (n.-219T=)
c.2243T= (p.Leu748=)
c.2147T= (p.Leu716=)
c.2087T= (p.Leu696=)
c.1991T= (p.Leu664=)
6g.43048431A>CCA364220293CUL7,KLC4c.1964T>G (p.Leu655Arg)
n.2247T>G
c.2060T>G (p.Leu687Arg)
n.2263T>G
n.2298T>G
c.456T>G
c.-553+4923A>C (n.-553+4923A>C)
c.2216T>G (p.Leu739Arg)
c.2120T>G (p.Leu707Arg)
c.-219T>G (n.-219T>G)
c.2243T>G (p.Leu748Arg)
c.2147T>G (p.Leu716Arg)
c.2087T>G (p.Leu696Arg)
c.1991T>G (p.Leu664Arg)
 dbSNP
6g.43048431A>GCA364220295CUL7,KLC4c.1964T>C (p.Leu655Pro)
n.2247T>C
c.2060T>C (p.Leu687Pro)
n.2263T>C
n.2298T>C
c.456T>C
c.-553+4923A>G (n.-553+4923A>G)
c.2216T>C (p.Leu739Pro)
c.2120T>C (p.Leu707Pro)
c.-219T>C (n.-219T>C)
c.2243T>C (p.Leu748Pro)
c.2147T>C (p.Leu716Pro)
c.2087T>C (p.Leu696Pro)
c.1991T>C (p.Leu664Pro)
6g.43048431A>TCA364220297CUL7,KLC4c.1964T>A (p.Leu655His)
n.2247T>A
c.2060T>A (p.Leu687His)
n.2263T>A
n.2298T>A
c.456T>A
c.-553+4923A>T (n.-553+4923A>T)
c.2216T>A (p.Leu739His)
c.2120T>A (p.Leu707His)
c.-219T>A (n.-219T>A)
c.2243T>A (p.Leu748His)
c.2147T>A (p.Leu716His)
c.2087T>A (p.Leu696His)
c.1991T>A (p.Leu664His)
6g.43048432G>ACA3814033CUL7,KLC4c.1963C>T (p.Leu655Phe)
n.2246C>T
c.2059C>T (p.Leu687Phe)
n.2262C>T
n.2297C>T
c.455C>T
c.-553+4924G>A (n.-553+4924G>A)
c.2215C>T (p.Leu739Phe)
c.2119C>T (p.Leu707Phe)
c.-220C>T (n.-220C>T)
c.2242C>T (p.Leu748Phe)
c.2146C>T (p.Leu716Phe)
c.2086C>T (p.Leu696Phe)
c.1990C>T (p.Leu664Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43048432G>CCA364220313CUL7,KLC4c.1963C>G (p.Leu655Val)
n.2246C>G
c.2059C>G (p.Leu687Val)
n.2262C>G
n.2297C>G
c.455C>G
c.-553+4924G>C (n.-553+4924G>C)
c.2215C>G (p.Leu739Val)
c.2119C>G (p.Leu707Val)
c.-220C>G (n.-220C>G)
c.2242C>G (p.Leu748Val)
c.2146C>G (p.Leu716Val)
c.2086C>G (p.Leu696Val)
c.1990C>G (p.Leu664Val)
6g.43048432G=CA1624357364CUL7,KLC4c.1963C= (p.Leu655=)
n.2246C=
c.2059C= (p.Leu687=)
n.2262C=
n.2297C=
c.455C=
c.-553+4924G= (n.-553+4924G=)
c.2215C= (p.Leu739=)
c.2119C= (p.Leu707=)
c.-220C= (n.-220C=)
c.2242C= (p.Leu748=)
c.2146C= (p.Leu716=)
c.2086C= (p.Leu696=)
c.1990C= (p.Leu664=)
6g.43048432G>TCA364220315CUL7,KLC4c.1963C>A (p.Leu655Ile)
n.2246C>A
c.2059C>A (p.Leu687Ile)
n.2262C>A
n.2297C>A
c.455C>A
c.-553+4924G>T (n.-553+4924G>T)
c.2215C>A (p.Leu739Ile)
c.2119C>A (p.Leu707Ile)
c.-220C>A (n.-220C>A)
c.2242C>A (p.Leu748Ile)
c.2146C>A (p.Leu716Ile)
c.2086C>A (p.Leu696Ile)
c.1990C>A (p.Leu664Ile)
6g.43048433T>ACA450261922CUL7,KLC4c.1962A>T (p.Pro654=)
n.2245A>T
c.2058A>T (p.Pro686=)
n.2261A>T
n.2296A>T
c.454A>T
c.-553+4925T>A (n.-553+4925T>A)
c.2214A>T (p.Pro738=)
c.2118A>T (p.Pro706=)
c.-221A>T (n.-221A>T)
c.2241A>T (p.Pro747=)
c.2145A>T (p.Pro715=)
c.2085A>T (p.Pro695=)
c.1989A>T (p.Pro663=)
6g.43048433T>CCA450261924CUL7,KLC4c.1962A>G (p.Pro654=)
n.2245A>G
c.2058A>G (p.Pro686=)
n.2261A>G
n.2296A>G
c.454A>G
c.-553+4925T>C (n.-553+4925T>C)
c.2214A>G (p.Pro738=)
c.2118A>G (p.Pro706=)
c.-221A>G (n.-221A>G)
c.2241A>G (p.Pro747=)
c.2145A>G (p.Pro715=)
c.2085A>G (p.Pro695=)
c.1989A>G (p.Pro663=)
 dbSNP
6g.43048433T>GCA450261926CUL7,KLC4c.1962A>C (p.Pro654=)
n.2245A>C
c.2058A>C (p.Pro686=)
n.2261A>C
n.2296A>C
c.454A>C
c.-553+4925T>G (n.-553+4925T>G)
c.2214A>C (p.Pro738=)
c.2118A>C (p.Pro706=)
c.-221A>C (n.-221A>C)
c.2241A>C (p.Pro747=)
c.2145A>C (p.Pro715=)
c.2085A>C (p.Pro695=)
c.1989A>C (p.Pro663=)
6g.43048433T=CA1624357365CUL7,KLC4c.1962A= (p.Pro654=)
n.2245A=
c.2058A= (p.Pro686=)
n.2261A=
n.2296A=
c.454A=
c.-553+4925T= (n.-553+4925T=)
c.2214A= (p.Pro738=)
c.2118A= (p.Pro706=)
c.-221A= (n.-221A=)
c.2241A= (p.Pro747=)
c.2145A= (p.Pro715=)
c.2085A= (p.Pro695=)
c.1989A= (p.Pro663=)
6g.43048434G>ACA364220319CUL7,KLC4c.1961C>T (p.Pro654Leu)
n.2244C>T
c.2057C>T (p.Pro686Leu)
n.2260C>T
n.2295C>T
c.453C>T
c.-553+4926G>A (n.-553+4926G>A)
c.2213C>T (p.Pro738Leu)
c.2117C>T (p.Pro706Leu)
c.-222C>T (n.-222C>T)
c.2240C>T (p.Pro747Leu)
c.2144C>T (p.Pro715Leu)
c.2084C>T (p.Pro695Leu)
c.1988C>T (p.Pro663Leu)
 dbSNP
6g.43048434G>CCA364220321CUL7,KLC4c.1961C>G (p.Pro654Arg)
n.2244C>G
c.2057C>G (p.Pro686Arg)
n.2260C>G
n.2295C>G
c.453C>G
c.-553+4926G>C (n.-553+4926G>C)
c.2213C>G (p.Pro738Arg)
c.2117C>G (p.Pro706Arg)
c.-222C>G (n.-222C>G)
c.2240C>G (p.Pro747Arg)
c.2144C>G (p.Pro715Arg)
c.2084C>G (p.Pro695Arg)
c.1988C>G (p.Pro663Arg)
6g.43048434G=CA1624357366CUL7,KLC4c.1961C= (p.Pro654=)
n.2244C=
c.2057C= (p.Pro686=)
n.2260C=
n.2295C=
c.453C=
c.-553+4926G= (n.-553+4926G=)
c.2213C= (p.Pro738=)
c.2117C= (p.Pro706=)
c.-222C= (n.-222C=)
c.2240C= (p.Pro747=)
c.2144C= (p.Pro715=)
c.2084C= (p.Pro695=)
c.1988C= (p.Pro663=)
6g.43048434G>TCA364220325CUL7,KLC4c.1961C>A (p.Pro654Gln)
n.2244C>A
c.2057C>A (p.Pro686Gln)
n.2260C>A
n.2295C>A
c.453C>A
c.-553+4926G>T (n.-553+4926G>T)
c.2213C>A (p.Pro738Gln)
c.2117C>A (p.Pro706Gln)
c.-222C>A (n.-222C>A)
c.2240C>A (p.Pro747Gln)
c.2144C>A (p.Pro715Gln)
c.2084C>A (p.Pro695Gln)
c.1988C>A (p.Pro663Gln)
6g.43048435G>ACA364220332CUL7,KLC4c.1960C>T (p.Pro654Ser)
n.2243C>T
c.2056C>T (p.Pro686Ser)
n.2259C>T
n.2294C>T
c.452C>T
c.-553+4927G>A (n.-553+4927G>A)
c.2212C>T (p.Pro738Ser)
c.2116C>T (p.Pro706Ser)
c.-223C>T (n.-223C>T)
c.2239C>T (p.Pro747Ser)
c.2143C>T (p.Pro715Ser)
c.2083C>T (p.Pro695Ser)
c.1987C>T (p.Pro663Ser)
 gnomAD v4
6g.43048435G>CCA364220329CUL7,KLC4c.1960C>G (p.Pro654Ala)
n.2243C>G
c.2056C>G (p.Pro686Ala)
n.2259C>G
n.2294C>G
c.452C>G
c.-553+4927G>C (n.-553+4927G>C)
c.2212C>G (p.Pro738Ala)
c.2116C>G (p.Pro706Ala)
c.-223C>G (n.-223C>G)
c.2239C>G (p.Pro747Ala)
c.2143C>G (p.Pro715Ala)
c.2083C>G (p.Pro695Ala)
c.1987C>G (p.Pro663Ala)
6g.43048435G>TCA364220331CUL7,KLC4c.1960C>A (p.Pro654Thr)
n.2243C>A
c.2056C>A (p.Pro686Thr)
n.2259C>A
n.2294C>A
c.452C>A
c.-553+4927G>T (n.-553+4927G>T)
c.2212C>A (p.Pro738Thr)
c.2116C>A (p.Pro706Thr)
c.-223C>A (n.-223C>A)
c.2239C>A (p.Pro747Thr)
c.2143C>A (p.Pro715Thr)
c.2083C>A (p.Pro695Thr)
c.1987C>A (p.Pro663Thr)
6g.43048436C>ACA364220336CUL7,KLC4c.1959G>T (p.Lys653Asn)
n.2242G>T
c.2055G>T (p.Lys685Asn)
n.2258G>T
n.2293G>T
c.451G>T
c.-553+4928C>A (n.-553+4928C>A)
c.2211G>T (p.Lys737Asn)
c.2115G>T (p.Lys705Asn)
c.-224G>T (n.-224G>T)
c.2238G>T (p.Lys746Asn)
c.2142G>T (p.Lys714Asn)
c.2082G>T (p.Lys694Asn)
c.1986G>T (p.Lys662Asn)
6g.43048436C>GCA364220339CUL7,KLC4c.1959G>C (p.Lys653Asn)
n.2242G>C
c.2055G>C (p.Lys685Asn)
n.2258G>C
n.2293G>C
c.451G>C
c.-553+4928C>G (n.-553+4928C>G)
c.2211G>C (p.Lys737Asn)
c.2115G>C (p.Lys705Asn)
c.-224G>C (n.-224G>C)
c.2238G>C (p.Lys746Asn)
c.2142G>C (p.Lys714Asn)
c.2082G>C (p.Lys694Asn)
c.1986G>C (p.Lys662Asn)
6g.43048436C>TCA450261930CUL7,KLC4c.1959G>A (p.Lys653=)
n.2242G>A
c.2055G>A (p.Lys685=)
n.2258G>A
n.2293G>A
c.451G>A
c.-553+4928C>T (n.-553+4928C>T)
c.2211G>A (p.Lys737=)
c.2115G>A (p.Lys705=)
c.-224G>A (n.-224G>A)
c.2238G>A (p.Lys746=)
c.2142G>A (p.Lys714=)
c.2082G>A (p.Lys694=)
c.1986G>A (p.Lys662=)
6g.43048437T>ACA364220342CUL7,KLC4c.1958A>T (p.Lys653Met)
n.2241A>T
c.2054A>T (p.Lys685Met)
n.2257A>T
n.2292A>T
c.450A>T
c.-553+4929T>A (n.-553+4929T>A)
c.2210A>T (p.Lys737Met)
c.2114A>T (p.Lys705Met)
c.-225A>T (n.-225A>T)
c.2237A>T (p.Lys746Met)
c.2141A>T (p.Lys714Met)
c.2081A>T (p.Lys694Met)
c.1985A>T (p.Lys662Met)
6g.43048437T>CCA364220345CUL7,KLC4c.1958A>G (p.Lys653Arg)
n.2241A>G
c.2054A>G (p.Lys685Arg)
n.2257A>G
n.2292A>G
c.450A>G
c.-553+4929T>C (n.-553+4929T>C)
c.2210A>G (p.Lys737Arg)
c.2114A>G (p.Lys705Arg)
c.-225A>G (n.-225A>G)
c.2237A>G (p.Lys746Arg)
c.2141A>G (p.Lys714Arg)
c.2081A>G (p.Lys694Arg)
c.1985A>G (p.Lys662Arg)
6g.43048437T>GCA364220351CUL7,KLC4c.1958A>C (p.Lys653Thr)
n.2241A>C
c.2054A>C (p.Lys685Thr)
n.2257A>C
n.2292A>C
c.450A>C
c.-553+4929T>G (n.-553+4929T>G)
c.2210A>C (p.Lys737Thr)
c.2114A>C (p.Lys705Thr)
c.-225A>C (n.-225A>C)
c.2237A>C (p.Lys746Thr)
c.2141A>C (p.Lys714Thr)
c.2081A>C (p.Lys694Thr)
c.1985A>C (p.Lys662Thr)
6g.43048438T>ACA364220354CUL7,KLC4c.1957A>T (p.Lys653Ter)
n.2240A>T
c.2053A>T (p.Lys685Ter)
n.2256A>T
n.2291A>T
c.449A>T
c.-553+4930T>A (n.-553+4930T>A)
c.2209A>T (p.Lys737Ter)
c.2113A>T (p.Lys705Ter)
c.-226A>T (n.-226A>T)
c.2236A>T (p.Lys746Ter)
c.2140A>T (p.Lys714Ter)
c.2080A>T (p.Lys694Ter)
c.1984A>T (p.Lys662Ter)
6g.43048438T>CCA364220359CUL7,KLC4c.1957A>G (p.Lys653Glu)
n.2240A>G
c.2053A>G (p.Lys685Glu)
n.2256A>G
n.2291A>G
c.449A>G
c.-553+4930T>C (n.-553+4930T>C)
c.2209A>G (p.Lys737Glu)
c.2113A>G (p.Lys705Glu)
c.-226A>G (n.-226A>G)
c.2236A>G (p.Lys746Glu)
c.2140A>G (p.Lys714Glu)
c.2080A>G (p.Lys694Glu)
c.1984A>G (p.Lys662Glu)
6g.43048438T>GCA364220360CUL7,KLC4c.1957A>C (p.Lys653Gln)
n.2240A>C
c.2053A>C (p.Lys685Gln)
n.2256A>C
n.2291A>C
c.449A>C
c.-553+4930T>G (n.-553+4930T>G)
c.2209A>C (p.Lys737Gln)
c.2113A>C (p.Lys705Gln)
c.-226A>C (n.-226A>C)
c.2236A>C (p.Lys746Gln)
c.2140A>C (p.Lys714Gln)
c.2080A>C (p.Lys694Gln)
c.1984A>C (p.Lys662Gln)
6g.43048439G>ACA450261932CUL7,KLC4c.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
6g.43048439G>CCA450261933CUL7,KLC4c.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
6g.43048439G=CA1624357367CUL7,KLC4c.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=)
6g.43048439G>TCA138249273CUL7,KLC4c.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
6g.43048440A=CA1624357368CUL7,KLC4c.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=)
6g.43048440A>CCA364220364CUL7,KLC4c.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)
6g.43048440A>GCA364220368CUL7,KLC4c.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)
6g.43048440A>TCA364220371CUL7,KLC4c.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
6g.43048441C>ACA364220381CUL7,KLC4c.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)
6g.43048441C>GCA364220379CUL7,KLC4c.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)
6g.43048441C>TCA364220376CUL7,KLC4c.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)
6g.43048442C>ACA364220384CUL7,KLC4c.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)
6g.43048442C=CA1624357369CUL7,KLC4c.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=)
6g.43048442C>GCA364220387CUL7,KLC4c.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)
6g.43048442C>TCA3814034CUL7,KLC4c.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
6g.43048443T>ACA364220400CUL7,KLC4c.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)
6g.43048443T>CCA364220402CUL7,KLC4c.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)
6g.43048443T>GCA364220404CUL7,KLC4c.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)
6g.43048444T>ACA364220421CUL7,KLC4c.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)
6g.43048444T>CCA3814035CUL7,KLC4c.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
6g.43048444T>GCA364220416CUL7,KLC4c.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)
6g.43048444T=CA1624357370CUL7,KLC4c.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=)
6g.43048445G>ACA450261946CUL7,KLC4c.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
6g.43048445G>CCA364220424CUL7,KLC4c.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)
6g.43048445G>TCA364220427CUL7,KLC4c.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)
6g.43048446T>ACA364220428CUL7,KLC4c.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)
6g.43048446T>CCA364220429CUL7,KLC4c.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)
6g.43048446T>GCA364220430CUL7,KLC4c.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)
6g.43048447T>ACA364220431CUL7,KLC4c.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)
6g.43048447T>CCA364220437CUL7,KLC4c.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)
6g.43048447T>GCA364220434CUL7,KLC4c.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)
6g.43048448delCA2678807749CUL7,KLC4c.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
6g.43048448C>ACA364220440CUL7,KLC4c.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)
6g.43048448C>GCA364220444CUL7,KLC4c.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)
6g.43048448C>TCA450261952CUL7,KLC4c.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
6g.43048449T>ACA364220447CUL7,KLC4c.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)
6g.43048449T>CCA364220451CUL7,KLC4c.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)
6g.43048449T>GCA364220454CUL7,KLC4c.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
6g.43048450C>ACA364220468CUL7,KLC4c.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)
6g.43048450C=CA1624357371CUL7,KLC4c.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=)
6g.43048450C>GCA364220473CUL7,KLC4c.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)
6g.43048450C>TCA138249276CUL7,KLC4c.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
6g.43048451C>ACA364220479CUL7,KLC4c.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)
6g.43048451C=CA1624357372CUL7,KLC4c.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=)
6g.43048451C>GCA364220481CUL7,KLC4c.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)
6g.43048451C>TCA450261959CUL7,KLC4c.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
6g.43048452T>ACA364220487CUL7,KLC4c.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)
6g.43048452T>CCA364220486CUL7,KLC4c.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)
6g.43048452T>GCA364220484CUL7,KLC4c.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
6g.43048453G>ACA364220490CUL7,KLC4c.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)
6g.43048453G>CCA364220496CUL7,KLC4c.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)
6g.43048453G>TCA364220492CUL7,KLC4c.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)
6g.43048454G>ACA450261962CUL7,KLC4c.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
6g.43048454G>CCA450261964CUL7,KLC4c.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=)
6g.43048454G=CA1624357373CUL7,KLC4c.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=)
6g.43048454G>TCA450261966CUL7,KLC4c.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
6g.43048455G>ACA3814036CUL7,KLC4c.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
6g.43048455G>CCA364220502CUL7,KLC4c.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)
6g.43048455G=CA1624357374CUL7,KLC4c.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=)
6g.43048455G>TCA364220501CUL7,KLC4c.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)
6g.43048456T>ACA364220503CUL7,KLC4c.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)
6g.43048456T>CCA364220505CUL7,KLC4c.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)
6g.43048456T>GCA364220504CUL7,KLC4c.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)
6g.43048456_43048457delinsTCCA1624357375CUL7,KLC4c.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=)
6g.43048457C>ACA450261968CUL7,KLC4c.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=)
6g.43048457C=CA1624357376CUL7,KLC4c.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=)
6g.43048457C>GCA450261970CUL7,KLC4c.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=)
6g.43048457C>TCA138249279CUL7,KLC4c.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
6g.43048460dupCA2695206337CUL7,KLC4c.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?)
6g.43048460delCA567150903CUL7,KLC4c.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
6g.43048458C>ACA364220508CUL7,KLC4c.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)
6g.43048458C>GCA364220512CUL7,KLC4c.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)
6g.43048458C>TCA364220514CUL7,KLC4c.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
6g.43048459C>ACA364220516CUL7,KLC4c.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)
6g.43048459C>GCA364220519CUL7,KLC4c.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)
6g.43048459C>TCA364220521CUL7,KLC4c.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)
6g.43048460C>ACA364220525CUL7,KLC4c.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)
6g.43048460C>GCA364220528CUL7,KLC4c.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)
6g.43048460C>TCA450261976CUL7,KLC4c.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=)
6g.43048461T>ACA364220532CUL7,KLC4c.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)
6g.43048461T>CCA364220537CUL7,KLC4c.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)
6g.43048461T>GCA364220549CUL7,KLC4c.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
6g.43048462C>ACA364220553CUL7,KLC4c.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)
6g.43048462C>GCA364220551CUL7,KLC4c.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)
6g.43048462C>TCA364220552CUL7,KLC4c.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)
6g.43048463T>ACA450261978CUL7,KLC4c.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=)
6g.43048463T>CCA3814037CUL7,KLC4c.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
6g.43048463T>GCA3814038CUL7,KLC4c.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
6g.43048463T=CA1624357377CUL7,KLC4c.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=)
6g.43048464G>ACA364220557CUL7,KLC4c.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
6g.43048464G>CCA364220561CUL7,KLC4c.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)
6g.43048464G>TCA364220562CUL7,KLC4c.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)
6g.43048465A>CCA364220565CUL7,KLC4c.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)
6g.43048465A>GCA364220566CUL7,KLC4c.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)
6g.43048465A>TCA364220570CUL7,KLC4c.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)
6g.43048466G>ACA450261984CUL7,KLC4c.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
6g.43048466G>CCA3814039CUL7,KLC4c.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
6g.43048466G=CA1624357378CUL7,KLC4c.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=)
6g.43048466G>TCA364220575CUL7,KLC4c.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)
6g.43048467C>ACA364220583CUL7,KLC4c.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)
6g.43048467C>GCA364220580CUL7,KLC4c.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)
6g.43048467C>TCA364220577CUL7,KLC4c.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
6g.43048468T>ACA364220586CUL7,KLC4c.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)
6g.43048468T>CCA364220588CUL7,KLC4c.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
6g.43048468T>GCA364220589CUL7,KLC4c.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)
6g.43048468T=CA1624357379CUL7,KLC4c.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=)
6g.43048468_43048482delinsTGAGGGCTTGCTCTACA1624357380CUL7,KLC4c.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=)
6g.43048469G>ACA3814040CUL7,KLC4c.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
6g.43048469G>CCA450261994CUL7,KLC4c.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=)
6g.43048469G=CA1624357381CUL7,KLC4c.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=)
6g.43048469G>TCA450261992CUL7,KLC4c.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=)
6g.43048471_43048484delCA1624357382CUL7,KLC4c.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
6g.43048470A=CA1624357383CUL7,KLC4c.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=)
6g.43048470A>CCA364220596CUL7,KLC4c.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)
6g.43048470A>GCA364220597CUL7,KLC4c.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
6g.43048470A>TCA364220600CUL7,KLC4c.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)
6g.43048471G>ACA364220614CUL7,KLC4c.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
6g.43048471G>CCA364220617CUL7,KLC4c.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)
6g.43048471G>TCA364220620CUL7,KLC4c.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)
6g.43048472G>ACA450261996CUL7,KLC4c.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=)
6g.43048472G>CCA450261998CUL7,KLC4c.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
6g.43048472G>TCA450261997CUL7,KLC4c.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
6g.43048473G>ACA364220623CUL7,KLC4c.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
6g.43048473G>CCA364220628CUL7,KLC4c.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)
6g.43048473G=CA1624357384CUL7,KLC4c.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=)
6g.43048473G>TCA364220629CUL7,KLC4c.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)
6g.43048474C>ACA364220632CUL7,KLC4c.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)
6g.43048474C=CA1624357385CUL7,KLC4c.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=)
6g.43048474C>GCA364220636CUL7,KLC4c.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)
6g.43048474C>TCA364220633CUL7,KLC4c.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
6g.43048475T>ACA364220640CUL7,KLC4c.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)
6g.43048475T>CCA450262000CUL7,KLC4c.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=)
6g.43048475T>GCA364220644CUL7,KLC4c.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)
6g.43048476T>ACA138249285CUL7,KLC4c.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
6g.43048476T>CCA364220650CUL7,KLC4c.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
6g.43048476T>GCA364220654CUL7,KLC4c.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)
6g.43048476T=CA1624357386CUL7,KLC4c.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=)
6g.43048477G>ACA138249287CUL7,KLC4c.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
6g.43048477G>CCA364220663CUL7,KLC4c.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)
6g.43048477G=CA1624357387CUL7,KLC4c.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=)
6g.43048477G>TCA364220664CUL7,KLC4c.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)
6g.43048478C>ACA364220666CUL7,KLC4c.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)
6g.43048478C>GCA364220673CUL7,KLC4c.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)
6g.43048478C>TCA450262003CUL7,KLC4c.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=)
6g.43048479T>ACA364220679CUL7,KLC4c.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)
6g.43048479T>CCA364220683CUL7,KLC4c.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)
6g.43048479T>GCA364220678CUL7,KLC4c.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)
6g.43048480C>ACA364220694CUL7,KLC4c.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)
6g.43048480C>GCA364220688CUL7,KLC4c.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)
6g.43048480C>TCA364220692CUL7,KLC4c.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
6g.43048481T>ACA450262008CUL7,KLC4c.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=)
6g.43048481T>CCA450262011CUL7,KLC4c.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=)
6g.43048481T>GCA450262014CUL7,KLC4c.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=)
6g.43048481_43048482delinsTACA1624357388CUL7,KLC4c.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=)
6g.43048482delCA824872600CUL7,KLC4c.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
6g.43048482A=CA1624357389CUL7,KLC4c.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=)
6g.43048482A>CCA3814041CUL7,KLC4c.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
6g.43048482A>GCA364220708CUL7,KLC4c.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)
6g.43048482A>TCA364220711CUL7,KLC4c.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)
6g.43048483G>ACA450262016CUL7,KLC4c.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=)
6g.43048483G>CCA364220719CUL7,KLC4c.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
6g.43048483G=CA1624357390CUL7,KLC4c.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=)
6g.43048483G>TCA364220720CUL7,KLC4c.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)
6g.43048484A>CCA364220723CUL7,KLC4c.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)
6g.43048484A>GCA450262018CUL7,KLC4c.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=)
6g.43048484A>TCA364220726CUL7,KLC4c.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)
6g.43048485T>ACA364220730CUL7,KLC4c.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)
6g.43048485T>CCA364220735CUL7,KLC4c.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
6g.43048485T>GCA364220738CUL7,KLC4c.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)
6g.43048485_43048488delinsTCCACA1624357391CUL7,KLC4c.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=)
6g.43048486C>ACA364220747CUL7,KLC4c.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
6g.43048486C=CA1624357393CUL7,KLC4c.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=)
6g.43048486C>GCA364220744CUL7,KLC4c.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)
6g.43048486C>TCA364220741CUL7,KLC4c.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)
6g.43048486_43048488delCA1624357392CUL7,KLC4c.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
6g.43048487C>ACA450262026CUL7,KLC4c.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=)
6g.43048487C>GCA450262027CUL7,KLC4c.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=)
6g.43048487C>TCA450262029CUL7,KLC4c.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
6g.43048487_43048490delinsCAGGCA1624357394CUL7,KLC4c.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=)
6g.43048488A=CA1624357395CUL7,KLC4c.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=)
6g.43048488A>CCA364220748CUL7,KLC4c.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)
6g.43048488A>GCA138249290CUL7,KLC4c.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
6g.43048488A>TCA364220749CUL7,KLC4c.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)
6g.43048492_43048494delCA567150904CUL7,KLC4c.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
6g.43048489G>ACA450262032CUL7,KLC4c.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
6g.43048489G>CCA364220750CUL7,KLC4c.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
6g.43048489G=CA1624357396CUL7,KLC4c.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=)
6g.43048489G>TCA364220752CUL7,KLC4c.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)
6g.43048490G>ACA450262035CUL7,KLC4c.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
6g.43048490G>CCA450262036CUL7,KLC4c.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
6g.43048490G=CA1624357397CUL7,KLC4c.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=)
6g.43048490G>TCA450262038CUL7,KLC4c.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=)
6g.43048491A>CCA364220753CUL7,KLC4c.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)
6g.43048491A>GCA364220755CUL7,KLC4c.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)
6g.43048491A>TCA364220760CUL7,KLC4c.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)
6g.43048492G>ACA364220770CUL7,KLC4c.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
6g.43048492G>CCA364220771CUL7,KLC4c.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)
6g.43048492G=CA1624357398CUL7,KLC4c.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=)
6g.43048492G>TCA364220773CUL7,KLC4c.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
6g.43048493G>ACA450262047CUL7,KLC4c.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=)
6g.43048493G>CCA364220774CUL7,KLC4c.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)
6g.43048493G>TCA450262044CUL7,KLC4c.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=)
6g.43048494A>CCA364220779CUL7,KLC4c.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)
6g.43048494A>GCA364220778CUL7,KLC4c.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)
6g.43048494A>TCA364220777CUL7,KLC4c.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)
6g.43048495T>ACA364220780CUL7,KLC4c.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
6g.43048495T>CCA364220781CUL7,KLC4c.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)
6g.43048495T>GCA364220784CUL7,KLC4c.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)
6g.43048496T>ACA364220798CUL7,KLC4c.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)
6g.43048496T>CCA450262050CUL7,KLC4c.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=)
6g.43048496T>GCA364220800CUL7,KLC4c.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)
6g.43048497T>ACA364220807CUL7,KLC4c.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)
6g.43048497T>CCA3814042CUL7,KLC4c.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
6g.43048497T>GCA364220805CUL7,KLC4c.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)
6g.43048497T=CA1624357399CUL7,KLC4c.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=)
6g.43048498T>ACA364220810CUL7,KLC4c.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)
6g.43048498T>CCA364220812CUL7,KLC4c.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)
6g.43048498T>GCA364220814CUL7,KLC4c.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)
6g.43048499C>ACA450262057CUL7,KLC4c.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=)
6g.43048499C>GCA450262062CUL7,KLC4c.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=)
6g.43048499C>TCA450262059CUL7,KLC4c.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=)
6g.43048500C>ACA364220818CUL7,KLC4c.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)
6g.43048500C>GCA364220820CUL7,KLC4c.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)
6g.43048500C>TCA364220822CUL7,KLC4c.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)
6g.43048501C>ACA364220824CUL7,KLC4c.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)
6g.43048501C=CA1624357400CUL7,KLC4c.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=)
6g.43048501C>GCA364220829CUL7,KLC4c.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)
6g.43048501C>TCA364220828CUL7,KLC4c.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
6g.43048502A>CCA450262067CUL7,KLC4c.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=)
6g.43048502A>GCA450262068CUL7,KLC4c.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=)
6g.43048502A>TCA450262070CUL7,KLC4c.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=)
6g.43048503G>ACA364220830CUL7,KLC4c.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)
6g.43048503G>CCA364220831CUL7,KLC4c.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)
6g.43048503G>TCA364220832CUL7,KLC4c.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)
6g.43048504C>ACA364220833CUL7,KLC4c.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)
6g.43048504C=CA1624357401CUL7,KLC4c.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=)
6g.43048504C>GCA364220837CUL7,KLC4c.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
6g.43048504C>TCA364220838CUL7,KLC4c.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)
6g.43048505T>ACA450262075CUL7,KLC4c.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=)
6g.43048505T>CCA450262077CUL7,KLC4c.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=)
6g.43048505T>GCA450262076CUL7,KLC4c.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=)
6g.43048506G>ACA364220843CUL7,KLC4c.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)
6g.43048506G>CCA364220845CUL7,KLC4c.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)
6g.43048506G>TCA364220846CUL7,KLC4c.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)
6g.43048507G>ACA364220850CUL7,KLC4c.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)
6g.43048507G>CCA364220851CUL7,KLC4c.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)
6g.43048507G>TCA364220854CUL7,KLC4c.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)
6g.43048508A>CCA450262082CUL7,KLC4c.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=)
6g.43048508A>GCA450262084CUL7,KLC4c.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=)
6g.43048508A>TCA450262085CUL7,KLC4c.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=)
6g.43048509C>ACA364220866CUL7,KLC4c.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)
6g.43048509C>GCA364220863CUL7,KLC4c.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)
6g.43048509C>TCA364220861CUL7,KLC4c.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
6g.43048510C>ACA364220873CUL7,KLC4c.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)
6g.43048510C>GCA364220870CUL7,KLC4c.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)
6g.43048510C>TCA364220874CUL7,KLC4c.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)
6g.43048511A=CA1624357402CUL7,KLC4c.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=)
6g.43048511A>CCA3814043CUL7,KLC4c.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
6g.43048511A>GCA450262089CUL7,KLC4c.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
6g.43048511A>TCA364220880CUL7,KLC4c.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)
6g.43048512T>ACA364220889CUL7,KLC4c.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)
6g.43048512T>CCA364220902CUL7,KLC4c.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
6g.43048512T>GCA364220904CUL7,KLC4c.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)
6g.43048512T=CA1624357403CUL7,KLC4c.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=)
6g.43048513A>CCA364220909CUL7,KLC4c.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)
6g.43048513A>GCA364220914CUL7,KLC4c.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)
6g.43048513A>TCA364220920CUL7,KLC4c.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
6g.43048514delCA2580074612CUL7,KLC4c.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
6g.43048514A=CA1624357404CUL7,KLC4c.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=)
6g.43048514A>CCA450262098CUL7,KLC4c.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
6g.43048514A>GCA450262096CUL7,KLC4c.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=)
6g.43048514A>TCA450262097CUL7,KLC4c.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=)
6g.43048515C>ACA364220922CUL7,KLC4c.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)
6g.43048515C>GCA364220925CUL7,KLC4c.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)
6g.43048515C>TCA364220928CUL7,KLC4c.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
6g.43048516C>ACA364220935CUL7,KLC4c.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)
6g.43048516C>GCA364220938CUL7,KLC4c.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)
6g.43048516C>TCA364220943CUL7,KLC4c.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)
6g.43048517C>ACA364220949CUL7,KLC4c.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)
6g.43048517C>GCA364220947CUL7,KLC4c.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)
6g.43048517C>TCA450262104CUL7,KLC4c.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=)
6g.43048518T>ACA364220954CUL7,KLC4c.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)
6g.43048518T>CCA364220961CUL7,KLC4c.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
6g.43048518T>GCA364220963CUL7,KLC4c.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)
6g.43048518T=CA1624357405CUL7,KLC4c.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=)
6g.43048519C>ACA364220966CUL7,KLC4c.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
6g.43048519C>GCA364220970CUL7,KLC4c.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)
6g.43048519C>TCA364220973CUL7,KLC4c.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)
6g.43048520C>ACA450262107CUL7,KLC4c.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=)
6g.43048520C>GCA450262109CUL7,KLC4c.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=)
6g.43048520C>TCA450262111CUL7,KLC4c.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
6g.43048521A=CA1624357406CUL7,KLC4c.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=)
6g.43048521A>CCA364220975CUL7,KLC4c.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
6g.43048521A>GCA364220979CUL7,KLC4c.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
6g.43048521A>TCA364220981CUL7,KLC4c.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)

Number of alleles fetched