Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.43048360T>ACA364218907CUL7,KLC4c.2035A>T (p.Asn679Tyr)
n.2318A>T
c.2131A>T (p.Asn711Tyr)
n.2334A>T
n.2369A>T
c.527A>T
c.-553+4852T>A (n.-553+4852T>A)
c.2287A>T (p.Asn763Tyr)
c.2191A>T (p.Asn731Tyr)
c.-148A>T (n.-148A>T)
c.2314A>T (p.Asn772Tyr)
c.2218A>T (p.Asn740Tyr)
c.2158A>T (p.Asn720Tyr)
c.2062A>T (p.Asn688Tyr)
6g.43048360T>CCA364218904CUL7,KLC4c.2035A>G (p.Asn679Asp)
n.2318A>G
c.2131A>G (p.Asn711Asp)
n.2334A>G
n.2369A>G
c.527A>G
c.-553+4852T>C (n.-553+4852T>C)
c.2287A>G (p.Asn763Asp)
c.2191A>G (p.Asn731Asp)
c.-148A>G (n.-148A>G)
c.2314A>G (p.Asn772Asp)
c.2218A>G (p.Asn740Asp)
c.2158A>G (p.Asn720Asp)
c.2062A>G (p.Asn688Asp)
6g.43048360T>GCA364218902CUL7,KLC4c.2035A>C (p.Asn679His)
n.2318A>C
c.2131A>C (p.Asn711His)
n.2334A>C
n.2369A>C
c.527A>C
c.-553+4852T>G (n.-553+4852T>G)
c.2287A>C (p.Asn763His)
c.2191A>C (p.Asn731His)
c.-148A>C (n.-148A>C)
c.2314A>C (p.Asn772His)
c.2218A>C (p.Asn740His)
c.2158A>C (p.Asn720His)
c.2062A>C (p.Asn688His)
6g.43048361A>CCA450261700CUL7,KLC4c.2034T>G (p.Thr678=)
n.2317T>G
c.2130T>G (p.Thr710=)
n.2333T>G
n.2368T>G
c.526T>G
c.-553+4853A>C (n.-553+4853A>C)
c.2286T>G (p.Thr762=)
c.2190T>G (p.Thr730=)
c.-149T>G (n.-149T>G)
c.2313T>G (p.Thr771=)
c.2217T>G (p.Thr739=)
c.2157T>G (p.Thr719=)
c.2061T>G (p.Thr687=)
 gnomAD v4
6g.43048361A>GCA450261703CUL7,KLC4c.2034T>C (p.Thr678=)
n.2317T>C
c.2130T>C (p.Thr710=)
n.2333T>C
n.2368T>C
c.526T>C
c.-553+4853A>G (n.-553+4853A>G)
c.2286T>C (p.Thr762=)
c.2190T>C (p.Thr730=)
c.-149T>C (n.-149T>C)
c.2313T>C (p.Thr771=)
c.2217T>C (p.Thr739=)
c.2157T>C (p.Thr719=)
c.2061T>C (p.Thr687=)
6g.43048361A>TCA450261702CUL7,KLC4c.2034T>A (p.Thr678=)
n.2317T>A
c.2130T>A (p.Thr710=)
n.2333T>A
n.2368T>A
c.526T>A
c.-553+4853A>T (n.-553+4853A>T)
c.2286T>A (p.Thr762=)
c.2190T>A (p.Thr730=)
c.-149T>A (n.-149T>A)
c.2313T>A (p.Thr771=)
c.2217T>A (p.Thr739=)
c.2157T>A (p.Thr719=)
c.2061T>A (p.Thr687=)
 gnomAD v4
6g.43048362G>ACA364218911CUL7,KLC4c.2033C>T (p.Thr678Ile)
n.2316C>T
c.2129C>T (p.Thr710Ile)
n.2332C>T
n.2367C>T
c.525C>T
c.-553+4854G>A (n.-553+4854G>A)
c.2285C>T (p.Thr762Ile)
c.2189C>T (p.Thr730Ile)
c.-150C>T (n.-150C>T)
c.2312C>T (p.Thr771Ile)
c.2216C>T (p.Thr739Ile)
c.2156C>T (p.Thr719Ile)
c.2060C>T (p.Thr687Ile)
6g.43048362G>CCA364218913CUL7,KLC4c.2033C>G (p.Thr678Ser)
n.2316C>G
c.2129C>G (p.Thr710Ser)
n.2332C>G
n.2367C>G
c.525C>G
c.-553+4854G>C (n.-553+4854G>C)
c.2285C>G (p.Thr762Ser)
c.2189C>G (p.Thr730Ser)
c.-150C>G (n.-150C>G)
c.2312C>G (p.Thr771Ser)
c.2216C>G (p.Thr739Ser)
c.2156C>G (p.Thr719Ser)
c.2060C>G (p.Thr687Ser)
 dbSNP
6g.43048362G=CA1624357328CUL7,KLC4c.2033C= (p.Thr678=)
n.2316C=
c.2129C= (p.Thr710=)
n.2332C=
n.2367C=
c.525C=
c.-553+4854G= (n.-553+4854G=)
c.2285C= (p.Thr762=)
c.2189C= (p.Thr730=)
c.-150C= (n.-150C=)
c.2312C= (p.Thr771=)
c.2216C= (p.Thr739=)
c.2156C= (p.Thr719=)
c.2060C= (p.Thr687=)
6g.43048362G>TCA364218915CUL7,KLC4c.2033C>A (p.Thr678Asn)
n.2316C>A
c.2129C>A (p.Thr710Asn)
n.2332C>A
n.2367C>A
c.525C>A
c.-553+4854G>T (n.-553+4854G>T)
c.2285C>A (p.Thr762Asn)
c.2189C>A (p.Thr730Asn)
c.-150C>A (n.-150C>A)
c.2312C>A (p.Thr771Asn)
c.2216C>A (p.Thr739Asn)
c.2156C>A (p.Thr719Asn)
c.2060C>A (p.Thr687Asn)
 gnomAD v4
6g.43048363T>ACA364218917CUL7,KLC4c.2032A>T (p.Thr678Ser)
n.2315A>T
c.2128A>T (p.Thr710Ser)
n.2331A>T
n.2366A>T
c.524A>T
c.-553+4855T>A (n.-553+4855T>A)
c.2284A>T (p.Thr762Ser)
c.2188A>T (p.Thr730Ser)
c.-151A>T (n.-151A>T)
c.2311A>T (p.Thr771Ser)
c.2215A>T (p.Thr739Ser)
c.2155A>T (p.Thr719Ser)
c.2059A>T (p.Thr687Ser)
6g.43048363T>CCA138249226CUL7,KLC4c.2032A>G (p.Thr678Ala)
n.2315A>G
c.2128A>G (p.Thr710Ala)
n.2331A>G
n.2366A>G
c.524A>G
c.-553+4855T>C (n.-553+4855T>C)
c.2284A>G (p.Thr762Ala)
c.2188A>G (p.Thr730Ala)
c.-151A>G (n.-151A>G)
c.2311A>G (p.Thr771Ala)
c.2215A>G (p.Thr739Ala)
c.2155A>G (p.Thr719Ala)
c.2059A>G (p.Thr687Ala)
 dbSNP gnomAD v4
6g.43048363T>GCA364218921CUL7,KLC4c.2032A>C (p.Thr678Pro)
n.2315A>C
c.2128A>C (p.Thr710Pro)
n.2331A>C
n.2366A>C
c.524A>C
c.-553+4855T>G (n.-553+4855T>G)
c.2284A>C (p.Thr762Pro)
c.2188A>C (p.Thr730Pro)
c.-151A>C (n.-151A>C)
c.2311A>C (p.Thr771Pro)
c.2215A>C (p.Thr739Pro)
c.2155A>C (p.Thr719Pro)
c.2059A>C (p.Thr687Pro)
 gnomAD v4
6g.43048363T=CA1624357329CUL7,KLC4c.2032A= (p.Thr678=)
n.2315A=
c.2128A= (p.Thr710=)
n.2331A=
n.2366A=
c.524A=
c.-553+4855T= (n.-553+4855T=)
c.2284A= (p.Thr762=)
c.2188A= (p.Thr730=)
c.-151A= (n.-151A=)
c.2311A= (p.Thr771=)
c.2215A= (p.Thr739=)
c.2155A= (p.Thr719=)
c.2059A= (p.Thr687=)
6g.43048364C>ACA364218924CUL7,KLC4c.2031G>T (p.Glu677Asp)
n.2314G>T
c.2127G>T (p.Glu709Asp)
n.2330G>T
n.2365G>T
c.523G>T
c.-553+4856C>A (n.-553+4856C>A)
c.2283G>T (p.Glu761Asp)
c.2187G>T (p.Glu729Asp)
c.-152G>T (n.-152G>T)
c.2310G>T (p.Glu770Asp)
c.2214G>T (p.Glu738Asp)
c.2154G>T (p.Glu718Asp)
c.2058G>T (p.Glu686Asp)
6g.43048364C>GCA364218927CUL7,KLC4c.2031G>C (p.Glu677Asp)
n.2314G>C
c.2127G>C (p.Glu709Asp)
n.2330G>C
n.2365G>C
c.523G>C
c.-553+4856C>G (n.-553+4856C>G)
c.2283G>C (p.Glu761Asp)
c.2187G>C (p.Glu729Asp)
c.-152G>C (n.-152G>C)
c.2310G>C (p.Glu770Asp)
c.2214G>C (p.Glu738Asp)
c.2154G>C (p.Glu718Asp)
c.2058G>C (p.Glu686Asp)
6g.43048364C>TCA450261708CUL7,KLC4c.2031G>A (p.Glu677=)
n.2314G>A
c.2127G>A (p.Glu709=)
n.2330G>A
n.2365G>A
c.523G>A
c.-553+4856C>T (n.-553+4856C>T)
c.2283G>A (p.Glu761=)
c.2187G>A (p.Glu729=)
c.-152G>A (n.-152G>A)
c.2310G>A (p.Glu770=)
c.2214G>A (p.Glu738=)
c.2154G>A (p.Glu718=)
c.2058G>A (p.Glu686=)
 ClinVar dbSNP gnomAD v4
6g.43048365T>ACA364218929CUL7,KLC4c.2030A>T (p.Glu677Val)
n.2313A>T
c.2126A>T (p.Glu709Val)
n.2329A>T
n.2364A>T
c.522A>T
c.-553+4857T>A (n.-553+4857T>A)
c.2282A>T (p.Glu761Val)
c.2186A>T (p.Glu729Val)
c.-153A>T (n.-153A>T)
c.2309A>T (p.Glu770Val)
c.2213A>T (p.Glu738Val)
c.2153A>T (p.Glu718Val)
c.2057A>T (p.Glu686Val)
6g.43048365T>CCA364218932CUL7,KLC4c.2030A>G (p.Glu677Gly)
n.2313A>G
c.2126A>G (p.Glu709Gly)
n.2329A>G
n.2364A>G
c.522A>G
c.-553+4857T>C (n.-553+4857T>C)
c.2282A>G (p.Glu761Gly)
c.2186A>G (p.Glu729Gly)
c.-153A>G (n.-153A>G)
c.2309A>G (p.Glu770Gly)
c.2213A>G (p.Glu738Gly)
c.2153A>G (p.Glu718Gly)
c.2057A>G (p.Glu686Gly)
6g.43048365T>GCA3814014CUL7,KLC4c.2030A>C (p.Glu677Ala)
n.2313A>C
c.2126A>C (p.Glu709Ala)
n.2329A>C
n.2364A>C
c.522A>C
c.-553+4857T>G (n.-553+4857T>G)
c.2282A>C (p.Glu761Ala)
c.2186A>C (p.Glu729Ala)
c.-153A>C (n.-153A>C)
c.2309A>C (p.Glu770Ala)
c.2213A>C (p.Glu738Ala)
c.2153A>C (p.Glu718Ala)
c.2057A>C (p.Glu686Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43048365T=CA1624357330CUL7,KLC4c.2030A= (p.Glu677=)
n.2313A=
c.2126A= (p.Glu709=)
n.2329A=
n.2364A=
c.522A=
c.-553+4857T= (n.-553+4857T=)
c.2282A= (p.Glu761=)
c.2186A= (p.Glu729=)
c.-153A= (n.-153A=)
c.2309A= (p.Glu770=)
c.2213A= (p.Glu738=)
c.2153A= (p.Glu718=)
c.2057A= (p.Glu686=)
6g.43048366C>ACA364218941CUL7,KLC4c.2029G>T (p.Glu677Ter)
n.2312G>T
c.2125G>T (p.Glu709Ter)
n.2328G>T
n.2363G>T
c.521G>T
c.-553+4858C>A (n.-553+4858C>A)
c.2281G>T (p.Glu761Ter)
c.2185G>T (p.Glu729Ter)
c.-154G>T (n.-154G>T)
c.2308G>T (p.Glu770Ter)
c.2212G>T (p.Glu738Ter)
c.2152G>T (p.Glu718Ter)
c.2056G>T (p.Glu686Ter)
6g.43048366C>GCA364218938CUL7,KLC4c.2029G>C (p.Glu677Gln)
n.2312G>C
c.2125G>C (p.Glu709Gln)
n.2328G>C
n.2363G>C
c.521G>C
c.-553+4858C>G (n.-553+4858C>G)
c.2281G>C (p.Glu761Gln)
c.2185G>C (p.Glu729Gln)
c.-154G>C (n.-154G>C)
c.2308G>C (p.Glu770Gln)
c.2212G>C (p.Glu738Gln)
c.2152G>C (p.Glu718Gln)
c.2056G>C (p.Glu686Gln)
6g.43048366C>TCA364218937CUL7,KLC4c.2029G>A (p.Glu677Lys)
n.2312G>A
c.2125G>A (p.Glu709Lys)
n.2328G>A
n.2363G>A
c.521G>A
c.-553+4858C>T (n.-553+4858C>T)
c.2281G>A (p.Glu761Lys)
c.2185G>A (p.Glu729Lys)
c.-154G>A (n.-154G>A)
c.2308G>A (p.Glu770Lys)
c.2212G>A (p.Glu738Lys)
c.2152G>A (p.Glu718Lys)
c.2056G>A (p.Glu686Lys)
6g.43048367C>ACA450261711CUL7,KLC4c.2028G>T (p.Pro676=)
n.2311G>T
c.2124G>T (p.Pro708=)
n.2327G>T
n.2362G>T
c.520G>T
c.-553+4859C>A (n.-553+4859C>A)
c.2280G>T (p.Pro760=)
c.2184G>T (p.Pro728=)
c.-155G>T (n.-155G>T)
c.2307G>T (p.Pro769=)
c.2211G>T (p.Pro737=)
c.2151G>T (p.Pro717=)
c.2055G>T (p.Pro685=)
6g.43048367C=CA1624357331CUL7,KLC4c.2028G= (p.Pro676=)
n.2311G=
c.2124G= (p.Pro708=)
n.2327G=
n.2362G=
c.520G=
c.-553+4859C= (n.-553+4859C=)
c.2280G= (p.Pro760=)
c.2184G= (p.Pro728=)
c.-155G= (n.-155G=)
c.2307G= (p.Pro769=)
c.2211G= (p.Pro737=)
c.2151G= (p.Pro717=)
c.2055G= (p.Pro685=)
6g.43048367C>GCA450261712CUL7,KLC4c.2028G>C (p.Pro676=)
n.2311G>C
c.2124G>C (p.Pro708=)
n.2327G>C
n.2362G>C
c.520G>C
c.-553+4859C>G (n.-553+4859C>G)
c.2280G>C (p.Pro760=)
c.2184G>C (p.Pro728=)
c.-155G>C (n.-155G>C)
c.2307G>C (p.Pro769=)
c.2211G>C (p.Pro737=)
c.2151G>C (p.Pro717=)
c.2055G>C (p.Pro685=)
6g.43048367C>TCA138249231CUL7,KLC4c.2028G>A (p.Pro676=)
n.2311G>A
c.2124G>A (p.Pro708=)
n.2327G>A
n.2362G>A
c.520G>A
c.-553+4859C>T (n.-553+4859C>T)
c.2280G>A (p.Pro760=)
c.2184G>A (p.Pro728=)
c.-155G>A (n.-155G>A)
c.2307G>A (p.Pro769=)
c.2211G>A (p.Pro737=)
c.2151G>A (p.Pro717=)
c.2055G>A (p.Pro685=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43048368G>ACA3814015CUL7,KLC4c.2027C>T (p.Pro676Leu)
n.2310C>T
c.2123C>T (p.Pro708Leu)
n.2326C>T
n.2361C>T
c.519C>T
c.-553+4860G>A (n.-553+4860G>A)
c.2279C>T (p.Pro760Leu)
c.2183C>T (p.Pro728Leu)
c.-156C>T (n.-156C>T)
c.2306C>T (p.Pro769Leu)
c.2210C>T (p.Pro737Leu)
c.2150C>T (p.Pro717Leu)
c.2054C>T (p.Pro685Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43048368G>CCA3814016CUL7,KLC4c.2027C>G (p.Pro676Arg)
n.2310C>G
c.2123C>G (p.Pro708Arg)
n.2326C>G
n.2361C>G
c.519C>G
c.-553+4860G>C (n.-553+4860G>C)
c.2279C>G (p.Pro760Arg)
c.2183C>G (p.Pro728Arg)
c.-156C>G (n.-156C>G)
c.2306C>G (p.Pro769Arg)
c.2210C>G (p.Pro737Arg)
c.2150C>G (p.Pro717Arg)
c.2054C>G (p.Pro685Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.43048368G=CA1624357332CUL7,KLC4c.2027C= (p.Pro676=)
n.2310C=
c.2123C= (p.Pro708=)
n.2326C=
n.2361C=
c.519C=
c.-553+4860G= (n.-553+4860G=)
c.2279C= (p.Pro760=)
c.2183C= (p.Pro728=)
c.-156C= (n.-156C=)
c.2306C= (p.Pro769=)
c.2210C= (p.Pro737=)
c.2150C= (p.Pro717=)
c.2054C= (p.Pro685=)
6g.43048368G>TCA364218948CUL7,KLC4c.2027C>A (p.Pro676Gln)
n.2310C>A
c.2123C>A (p.Pro708Gln)
n.2326C>A
n.2361C>A
c.519C>A
c.-553+4860G>T (n.-553+4860G>T)
c.2279C>A (p.Pro760Gln)
c.2183C>A (p.Pro728Gln)
c.-156C>A (n.-156C>A)
c.2306C>A (p.Pro769Gln)
c.2210C>A (p.Pro737Gln)
c.2150C>A (p.Pro717Gln)
c.2054C>A (p.Pro685Gln)
6g.43048369delCA2678807747CUL7,KLC4c.2027del (p.Pro676ArgfsTer9)
n.2310del
c.2123del (p.Pro708ArgfsTer9)
n.2326del
n.2361del
c.519del
c.-553+4861del (n.-553+4861del)
c.2279del (p.Pro760ArgfsTer9)
c.2183del (p.Pro728ArgfsTer9)
c.-156del (n.-156del)
c.2306del (p.Pro769ArgfsTer9)
c.2210del (p.Pro737ArgfsTer9)
c.2150del (p.Pro717ArgfsTer9)
c.2054del (p.Pro685ArgfsTer9)
 gnomAD v4
6g.43048369G>ACA364218951CUL7,KLC4c.2026C>T (p.Pro676Ser)
n.2309C>T
c.2122C>T (p.Pro708Ser)
n.2325C>T
n.2360C>T
c.518C>T
c.-553+4861G>A (n.-553+4861G>A)
c.2278C>T (p.Pro760Ser)
c.2182C>T (p.Pro728Ser)
c.-157C>T (n.-157C>T)
c.2305C>T (p.Pro769Ser)
c.2209C>T (p.Pro737Ser)
c.2149C>T (p.Pro717Ser)
c.2053C>T (p.Pro685Ser)
6g.43048369G>CCA364218953CUL7,KLC4c.2026C>G (p.Pro676Ala)
n.2309C>G
c.2122C>G (p.Pro708Ala)
n.2325C>G
n.2360C>G
c.518C>G
c.-553+4861G>C (n.-553+4861G>C)
c.2278C>G (p.Pro760Ala)
c.2182C>G (p.Pro728Ala)
c.-157C>G (n.-157C>G)
c.2305C>G (p.Pro769Ala)
c.2209C>G (p.Pro737Ala)
c.2149C>G (p.Pro717Ala)
c.2053C>G (p.Pro685Ala)
 gnomAD v4
6g.43048369G>TCA364218955CUL7,KLC4c.2026C>A (p.Pro676Thr)
n.2309C>A
c.2122C>A (p.Pro708Thr)
n.2325C>A
n.2360C>A
c.518C>A
c.-553+4861G>T (n.-553+4861G>T)
c.2278C>A (p.Pro760Thr)
c.2182C>A (p.Pro728Thr)
c.-157C>A (n.-157C>A)
c.2305C>A (p.Pro769Thr)
c.2209C>A (p.Pro737Thr)
c.2149C>A (p.Pro717Thr)
c.2053C>A (p.Pro685Thr)
6g.43048370A>CCA450261715CUL7,KLC4c.2025T>G (p.Thr675=)
n.2308T>G
c.2121T>G (p.Thr707=)
n.2324T>G
n.2359T>G
c.517T>G
c.-553+4862A>C (n.-553+4862A>C)
c.2277T>G (p.Thr759=)
c.2181T>G (p.Thr727=)
c.-158T>G (n.-158T>G)
c.2304T>G (p.Thr768=)
c.2208T>G (p.Thr736=)
c.2148T>G (p.Thr716=)
c.2052T>G (p.Thr684=)
6g.43048370A>GCA450261716CUL7,KLC4c.2025T>C (p.Thr675=)
n.2308T>C
c.2121T>C (p.Thr707=)
n.2324T>C
n.2359T>C
c.517T>C
c.-553+4862A>G (n.-553+4862A>G)
c.2277T>C (p.Thr759=)
c.2181T>C (p.Thr727=)
c.-158T>C (n.-158T>C)
c.2304T>C (p.Thr768=)
c.2208T>C (p.Thr736=)
c.2148T>C (p.Thr716=)
c.2052T>C (p.Thr684=)
6g.43048370A>TCA450261717CUL7,KLC4c.2025T>A (p.Thr675=)
n.2308T>A
c.2121T>A (p.Thr707=)
n.2324T>A
n.2359T>A
c.517T>A
c.-553+4862A>T (n.-553+4862A>T)
c.2277T>A (p.Thr759=)
c.2181T>A (p.Thr727=)
c.-158T>A (n.-158T>A)
c.2304T>A (p.Thr768=)
c.2208T>A (p.Thr736=)
c.2148T>A (p.Thr716=)
c.2052T>A (p.Thr684=)
6g.43048371G>ACA3814017CUL7,KLC4c.2024C>T (p.Thr675Ile)
n.2307C>T
c.2120C>T (p.Thr707Ile)
n.2323C>T
n.2358C>T
c.516C>T
c.-553+4863G>A (n.-553+4863G>A)
c.2276C>T (p.Thr759Ile)
c.2180C>T (p.Thr727Ile)
c.-159C>T (n.-159C>T)
c.2303C>T (p.Thr768Ile)
c.2207C>T (p.Thr736Ile)
c.2147C>T (p.Thr716Ile)
c.2051C>T (p.Thr684Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43048371G>CCA364218959CUL7,KLC4c.2024C>G (p.Thr675Ser)
n.2307C>G
c.2120C>G (p.Thr707Ser)
n.2323C>G
n.2358C>G
c.516C>G
c.-553+4863G>C (n.-553+4863G>C)
c.2276C>G (p.Thr759Ser)
c.2180C>G (p.Thr727Ser)
c.-159C>G (n.-159C>G)
c.2303C>G (p.Thr768Ser)
c.2207C>G (p.Thr736Ser)
c.2147C>G (p.Thr716Ser)
c.2051C>G (p.Thr684Ser)
6g.43048371G=CA1624357333CUL7,KLC4c.2024C= (p.Thr675=)
n.2307C=
c.2120C= (p.Thr707=)
n.2323C=
n.2358C=
c.516C=
c.-553+4863G= (n.-553+4863G=)
c.2276C= (p.Thr759=)
c.2180C= (p.Thr727=)
c.-159C= (n.-159C=)
c.2303C= (p.Thr768=)
c.2207C= (p.Thr736=)
c.2147C= (p.Thr716=)
c.2051C= (p.Thr684=)
6g.43048371G>TCA364218962CUL7,KLC4c.2024C>A (p.Thr675Asn)
n.2307C>A
c.2120C>A (p.Thr707Asn)
n.2323C>A
n.2358C>A
c.516C>A
c.-553+4863G>T (n.-553+4863G>T)
c.2276C>A (p.Thr759Asn)
c.2180C>A (p.Thr727Asn)
c.-159C>A (n.-159C>A)
c.2303C>A (p.Thr768Asn)
c.2207C>A (p.Thr736Asn)
c.2147C>A (p.Thr716Asn)
c.2051C>A (p.Thr684Asn)
6g.43048372T>ACA364218965CUL7,KLC4c.2023A>T (p.Thr675Ser)
n.2306A>T
c.2119A>T (p.Thr707Ser)
n.2322A>T
n.2357A>T
c.515A>T
c.-553+4864T>A (n.-553+4864T>A)
c.2275A>T (p.Thr759Ser)
c.2179A>T (p.Thr727Ser)
c.-160A>T (n.-160A>T)
c.2302A>T (p.Thr768Ser)
c.2206A>T (p.Thr736Ser)
c.2146A>T (p.Thr716Ser)
c.2050A>T (p.Thr684Ser)
6g.43048372T>CCA364218968CUL7,KLC4c.2023A>G (p.Thr675Ala)
n.2306A>G
c.2119A>G (p.Thr707Ala)
n.2322A>G
n.2357A>G
c.515A>G
c.-553+4864T>C (n.-553+4864T>C)
c.2275A>G (p.Thr759Ala)
c.2179A>G (p.Thr727Ala)
c.-160A>G (n.-160A>G)
c.2302A>G (p.Thr768Ala)
c.2206A>G (p.Thr736Ala)
c.2146A>G (p.Thr716Ala)
c.2050A>G (p.Thr684Ala)
 dbSNP gnomAD v4
6g.43048372T>GCA364218971CUL7,KLC4c.2023A>C (p.Thr675Pro)
n.2306A>C
c.2119A>C (p.Thr707Pro)
n.2322A>C
n.2357A>C
c.515A>C
c.-553+4864T>G (n.-553+4864T>G)
c.2275A>C (p.Thr759Pro)
c.2179A>C (p.Thr727Pro)
c.-160A>C (n.-160A>C)
c.2302A>C (p.Thr768Pro)
c.2206A>C (p.Thr736Pro)
c.2146A>C (p.Thr716Pro)
c.2050A>C (p.Thr684Pro)
6g.43048372T=CA1624357334CUL7,KLC4c.2023A= (p.Thr675=)
n.2306A=
c.2119A= (p.Thr707=)
n.2322A=
n.2357A=
c.515A=
c.-553+4864T= (n.-553+4864T=)
c.2275A= (p.Thr759=)
c.2179A= (p.Thr727=)
c.-160A= (n.-160A=)
c.2302A= (p.Thr768=)
c.2206A= (p.Thr736=)
c.2146A= (p.Thr716=)
c.2050A= (p.Thr684=)
6g.43048373G>ACA450261722CUL7,KLC4c.2022C>T (p.Asp674=)
n.2305C>T
c.2118C>T (p.Asp706=)
n.2321C>T
n.2356C>T
c.514C>T
c.-553+4865G>A (n.-553+4865G>A)
c.2274C>T (p.Asp758=)
c.2178C>T (p.Asp726=)
c.-161C>T (n.-161C>T)
c.2301C>T (p.Asp767=)
c.2205C>T (p.Asp735=)
c.2145C>T (p.Asp715=)
c.2049C>T (p.Asp683=)
6g.43048373G>CCA364218974CUL7,KLC4c.2022C>G (p.Asp674Glu)
n.2305C>G
c.2118C>G (p.Asp706Glu)
n.2321C>G
n.2356C>G
c.514C>G
c.-553+4865G>C (n.-553+4865G>C)
c.2274C>G (p.Asp758Glu)
c.2178C>G (p.Asp726Glu)
c.-161C>G (n.-161C>G)
c.2301C>G (p.Asp767Glu)
c.2205C>G (p.Asp735Glu)
c.2145C>G (p.Asp715Glu)
c.2049C>G (p.Asp683Glu)
6g.43048373G>TCA364218976CUL7,KLC4c.2022C>A (p.Asp674Glu)
n.2305C>A
c.2118C>A (p.Asp706Glu)
n.2321C>A
n.2356C>A
c.514C>A
c.-553+4865G>T (n.-553+4865G>T)
c.2274C>A (p.Asp758Glu)
c.2178C>A (p.Asp726Glu)
c.-161C>A (n.-161C>A)
c.2301C>A (p.Asp767Glu)
c.2205C>A (p.Asp735Glu)
c.2145C>A (p.Asp715Glu)
c.2049C>A (p.Asp683Glu)
 gnomAD v4

Number of alleles fetched