Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68406653A>CCA381615591LRP5c.1931A>C (p.Glu644Ala)
c.*537A>C (n.*537A>C)
c.188A>C (p.Glu63Ala)
c.1958A>C (p.Glu653Ala)
n.1973A>C
11g.68406653A>GCA381615593LRP5c.1931A>G (p.Glu644Gly)
c.*537A>G (n.*537A>G)
c.188A>G (p.Glu63Gly)
c.1958A>G (p.Glu653Gly)
n.1973A>G
11g.68406653A>TCA381615592LRP5c.1931A>T (p.Glu644Val)
c.*537A>T (n.*537A>T)
c.188A>T (p.Glu63Val)
c.1958A>T (p.Glu653Val)
n.1973A>T
 gnomAD v4
11g.68406654G>ACA6149488LRP5c.1932G>A (p.Glu644=)
c.*538G>A (n.*538G>A)
c.189G>A (p.Glu63=)
c.1959G>A (p.Glu653=)
n.1974G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406654G>CCA381615594LRP5c.1932G>C (p.Glu644Asp)
c.*538G>C (n.*538G>C)
c.189G>C (p.Glu63Asp)
c.1959G>C (p.Glu653Asp)
n.1974G>C
11g.68406654G=CA1980654695LRP5c.1932G= (p.Glu644=)
c.*538G= (n.*538G=)
c.189G= (p.Glu63=)
c.1959G= (p.Glu653=)
n.1974G=
11g.68406654G>TCA381615595LRP5c.1932G>T (p.Glu644Asp)
c.*538G>T (n.*538G>T)
c.189G>T (p.Glu63Asp)
c.1959G>T (p.Glu653Asp)
n.1974G>T
 COSMIC
11g.68406655G>ACA381615596LRP5c.1933G>A (p.Ala645Thr)
c.*539G>A (n.*539G>A)
c.190G>A (p.Ala64Thr)
c.1960G>A (p.Ala654Thr)
n.1975G>A
 dbSNP gnomAD v2
11g.68406655G>CCA381615597LRP5c.1933G>C (p.Ala645Pro)
c.*539G>C (n.*539G>C)
c.190G>C (p.Ala64Pro)
c.1960G>C (p.Ala654Pro)
n.1975G>C
11g.68406655G=CA1980654696LRP5c.1933G= (p.Ala645=)
c.*539G= (n.*539G=)
c.190G= (p.Ala64=)
c.1960G= (p.Ala654=)
n.1975G=
11g.68406655G>TCA381615598LRP5c.1933G>T (p.Ala645Ser)
c.*539G>T (n.*539G>T)
c.190G>T (p.Ala64Ser)
c.1960G>T (p.Ala654Ser)
n.1975G>T
11g.68406656C>ACA381615599LRP5c.1934C>A (p.Ala645Asp)
c.*540C>A (n.*540C>A)
c.191C>A (p.Ala64Asp)
c.1961C>A (p.Ala654Asp)
n.1976C>A
11g.68406656C>GCA381615600LRP5c.1934C>G (p.Ala645Gly)
c.*540C>G (n.*540C>G)
c.191C>G (p.Ala64Gly)
c.1961C>G (p.Ala654Gly)
n.1976C>G
11g.68406656C>TCA381615601LRP5c.1934C>T (p.Ala645Val)
c.*540C>T (n.*540C>T)
c.191C>T (p.Ala64Val)
c.1961C>T (p.Ala654Val)
n.1976C>T
11g.68406657C>ACA475516349LRP5c.1935C>A (p.Ala645=)
c.*541C>A (n.*541C>A)
c.192C>A (p.Ala64=)
c.1962C>A (p.Ala654=)
n.1977C>A
11g.68406657C>GCA475516351LRP5c.1935C>G (p.Ala645=)
c.*541C>G (n.*541C>G)
c.192C>G (p.Ala64=)
c.1962C>G (p.Ala654=)
n.1977C>G
 gnomAD v4
11g.68406657C>TCA475516350LRP5c.1935C>T (p.Ala645=)
c.*541C>T (n.*541C>T)
c.192C>T (p.Ala64=)
c.1962C>T (p.Ala654=)
n.1977C>T
11g.68406658T>ACA381615602LRP5c.1936T>A (p.Phe646Ile)
c.*542T>A (n.*542T>A)
c.193T>A (p.Phe65Ile)
c.1963T>A (p.Phe655Ile)
n.1978T>A
 ClinVar dbSNP
11g.68406658T>CCA381615603LRP5c.1936T>C (p.Phe646Leu)
c.*542T>C (n.*542T>C)
c.193T>C (p.Phe65Leu)
c.1963T>C (p.Phe655Leu)
n.1978T>C
 gnomAD v4
11g.68406658T>GCA381615604LRP5c.1936T>G (p.Phe646Val)
c.*542T>G (n.*542T>G)
c.193T>G (p.Phe65Val)
c.1963T>G (p.Phe655Val)
n.1978T>G
11g.68406659T>ACA381615605LRP5c.1937T>A (p.Phe646Tyr)
c.*543T>A (n.*543T>A)
c.194T>A (p.Phe65Tyr)
c.1964T>A (p.Phe655Tyr)
n.1979T>A
11g.68406659T>CCA381615607LRP5c.1937T>C (p.Phe646Ser)
c.*543T>C (n.*543T>C)
c.194T>C (p.Phe65Ser)
c.1964T>C (p.Phe655Ser)
n.1979T>C
11g.68406659T>GCA381615606LRP5c.1937T>G (p.Phe646Cys)
c.*543T>G (n.*543T>G)
c.194T>G (p.Phe65Cys)
c.1964T>G (p.Phe655Cys)
n.1979T>G
11g.68406660C>ACA381615608LRP5c.1938C>A (p.Phe646Leu)
c.*544C>A (n.*544C>A)
c.195C>A (p.Phe65Leu)
c.1965C>A (p.Phe655Leu)
n.1980C>A
 dbSNP
11g.68406660C=CA1980654697LRP5c.1938C= (p.Phe646=)
c.*544C= (n.*544C=)
c.195C= (p.Phe65=)
c.1965C= (p.Phe655=)
n.1980C=
11g.68406660C>GCA6149489LRP5c.1938C>G (p.Phe646Leu)
c.*544C>G (n.*544C>G)
c.195C>G (p.Phe65Leu)
c.1965C>G (p.Phe655Leu)
n.1980C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68406660C>TCA475516352LRP5c.1938C>T (p.Phe646=)
c.*544C>T (n.*544C>T)
c.195C>T (p.Phe65=)
c.1965C>T (p.Phe655=)
n.1980C>T
11g.68406660dupCA2614713168LRP5c.1938dup (p.Val648GlyfsTer17)
c.*544dup (n.*544dup)
c.195dup (p.Val67GlyfsTer17)
c.1965dup (p.Val657GlyfsTer17)
n.1980dup
 gnomAD v4
11g.68406661T>ACA381615609LRP5c.1939T>A (p.Leu647Met)
c.*545T>A (n.*545T>A)
c.196T>A (p.Leu66Met)
c.1966T>A (p.Leu656Met)
n.1981T>A
11g.68406661T>CCA475516354LRP5c.1939T>C (p.Leu647=)
c.*545T>C (n.*545T>C)
c.196T>C (p.Leu66=)
c.1966T>C (p.Leu656=)
n.1981T>C
11g.68406661T>GCA381615610LRP5c.1939T>G (p.Leu647Val)
c.*545T>G (n.*545T>G)
c.196T>G (p.Leu66Val)
c.1966T>G (p.Leu656Val)
n.1981T>G
11g.68406662T>ACA381615611LRP5c.1940T>A (p.Leu647Ter)
c.*546T>A (n.*546T>A)
c.197T>A (p.Leu66Ter)
c.1967T>A (p.Leu656Ter)
n.1982T>A
11g.68406662T>CCA381615612LRP5c.1940T>C (p.Leu647Ser)
c.*546T>C (n.*546T>C)
c.197T>C (p.Leu66Ser)
c.1967T>C (p.Leu656Ser)
n.1982T>C
11g.68406662T>GCA381615613LRP5c.1940T>G (p.Leu647Trp)
c.*546T>G (n.*546T>G)
c.197T>G (p.Leu66Trp)
c.1967T>G (p.Leu656Trp)
n.1982T>G
11g.68406663G>ACA475516357LRP5c.1941G>A (p.Leu647=)
c.*547G>A (n.*547G>A)
c.198G>A (p.Leu66=)
c.1968G>A (p.Leu656=)
n.1983G>A
11g.68406663G>CCA381615614LRP5c.1941G>C (p.Leu647Phe)
c.*547G>C (n.*547G>C)
c.198G>C (p.Leu66Phe)
c.1968G>C (p.Leu656Phe)
n.1983G>C
11g.68406663G>TCA381615615LRP5c.1941G>T (p.Leu647Phe)
c.*547G>T (n.*547G>T)
c.198G>T (p.Leu66Phe)
c.1968G>T (p.Leu656Phe)
n.1983G>T
11g.68406664G>ACA381615618LRP5c.1942G>A (p.Val648Ile)
c.*548G>A (n.*548G>A)
c.199G>A (p.Val67Ile)
c.1969G>A (p.Val657Ile)
n.1984G>A
11g.68406664G>CCA381615617LRP5c.1942G>C (p.Val648Leu)
c.*548G>C (n.*548G>C)
c.199G>C (p.Val67Leu)
c.1969G>C (p.Val657Leu)
n.1984G>C
11g.68406664G>TCA381615616LRP5c.1942G>T (p.Val648Phe)
c.*548G>T (n.*548G>T)
c.199G>T (p.Val67Phe)
c.1969G>T (p.Val657Phe)
n.1984G>T
 gnomAD v4
11g.68406665T>ACA381615619LRP5c.1943T>A (p.Val648Asp)
c.*549T>A (n.*549T>A)
c.200T>A (p.Val67Asp)
c.1970T>A (p.Val657Asp)
n.1985T>A
11g.68406665T>CCA381615620LRP5c.1943T>C (p.Val648Ala)
c.*549T>C (n.*549T>C)
c.200T>C (p.Val67Ala)
c.1970T>C (p.Val657Ala)
n.1985T>C
11g.68406665T>GCA381615621LRP5c.1943T>G (p.Val648Gly)
c.*549T>G (n.*549T>G)
c.200T>G (p.Val67Gly)
c.1970T>G (p.Val657Gly)
n.1985T>G
 gnomAD v4
11g.68406666C>ACA475516359LRP5c.1944C>A (p.Val648=)
c.*550C>A (n.*550C>A)
c.201C>A (p.Val67=)
c.1971C>A (p.Val657=)
n.1986C>A
11g.68406666C>GCA475516360LRP5c.1944C>G (p.Val648=)
c.*550C>G (n.*550C>G)
c.201C>G (p.Val67=)
c.1971C>G (p.Val657=)
n.1986C>G
11g.68406666C>TCA475516361LRP5c.1944C>T (p.Val648=)
c.*550C>T (n.*550C>T)
c.201C>T (p.Val67=)
c.1971C>T (p.Val657=)
n.1986C>T
11g.68406667T>ACA381615622LRP5c.1945T>A (p.Phe649Ile)
c.*551T>A (n.*551T>A)
c.202T>A (p.Phe68Ile)
c.1972T>A (p.Phe658Ile)
n.1987T>A
11g.68406667T>CCA381615623LRP5c.1945T>C (p.Phe649Leu)
c.*551T>C (n.*551T>C)
c.202T>C (p.Phe68Leu)
c.1972T>C (p.Phe658Leu)
n.1987T>C
11g.68406667T>GCA381615624LRP5c.1945T>G (p.Phe649Val)
c.*551T>G (n.*551T>G)
c.202T>G (p.Phe68Val)
c.1972T>G (p.Phe658Val)
n.1987T>G
11g.68406668T>ACA381615625LRP5c.1946T>A (p.Phe649Tyr)
c.*552T>A (n.*552T>A)
c.203T>A (p.Phe68Tyr)
c.1973T>A (p.Phe658Tyr)
n.1988T>A
11g.68406668T>CCA381615626LRP5c.1946T>C (p.Phe649Ser)
c.*552T>C (n.*552T>C)
c.203T>C (p.Phe68Ser)
c.1973T>C (p.Phe658Ser)
n.1988T>C
11g.68406668T>GCA381615627LRP5c.1946T>G (p.Phe649Cys)
c.*552T>G (n.*552T>G)
c.203T>G (p.Phe68Cys)
c.1973T>G (p.Phe658Cys)
n.1988T>G
11g.68406669C>ACA381615628LRP5c.1947C>A (p.Phe649Leu)
c.*553C>A (n.*553C>A)
c.204C>A (p.Phe68Leu)
c.1974C>A (p.Phe658Leu)
n.1989C>A
11g.68406669C>GCA381615629LRP5c.1947C>G (p.Phe649Leu)
c.*553C>G (n.*553C>G)
c.204C>G (p.Phe68Leu)
c.1974C>G (p.Phe658Leu)
n.1989C>G
11g.68406669C>TCA475516362LRP5c.1947C>T (p.Phe649=)
c.*553C>T (n.*553C>T)
c.204C>T (p.Phe68=)
c.1974C>T (p.Phe658=)
n.1989C>T
 gnomAD v4
11g.68406670A=CA1980654698LRP5c.1948A= (p.Thr650=)
c.*554A= (n.*554A=)
c.205A= (p.Thr69=)
c.1975A= (p.Thr659=)
n.1990A=
11g.68406670A>CCA381615631LRP5c.1948A>C (p.Thr650Pro)
c.*554A>C (n.*554A>C)
c.205A>C (p.Thr69Pro)
c.1975A>C (p.Thr659Pro)
n.1990A>C
 dbSNP
11g.68406670A>GCA6149490LRP5c.1948A>G (p.Thr650Ala)
c.*554A>G (n.*554A>G)
c.205A>G (p.Thr69Ala)
c.1975A>G (p.Thr659Ala)
n.1990A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406670A>TCA381615630LRP5c.1948A>T (p.Thr650Ser)
c.*554A>T (n.*554A>T)
c.205A>T (p.Thr69Ser)
c.1975A>T (p.Thr659Ser)
n.1990A>T
11g.68406671C>ACA381615632LRP5c.1949C>A (p.Thr650Asn)
c.*555C>A (n.*555C>A)
c.206C>A (p.Thr69Asn)
c.1976C>A (p.Thr659Asn)
n.1991C>A
11g.68406671C>GCA381615633LRP5c.1949C>G (p.Thr650Ser)
c.*555C>G (n.*555C>G)
c.206C>G (p.Thr69Ser)
c.1976C>G (p.Thr659Ser)
n.1991C>G
11g.68406671C>TCA381615634LRP5c.1949C>T (p.Thr650Ile)
c.*555C>T (n.*555C>T)
c.206C>T (p.Thr69Ile)
c.1976C>T (p.Thr659Ile)
n.1991C>T
 ClinVar gnomAD v4
11g.68406672C>ACA475516366LRP5c.1950C>A (p.Thr650=)
c.*556C>A (n.*556C>A)
c.207C>A (p.Thr69=)
c.1977C>A (p.Thr659=)
n.1992C>A
11g.68406672C>GCA475516368LRP5c.1950C>G (p.Thr650=)
c.*556C>G (n.*556C>G)
c.207C>G (p.Thr69=)
c.1977C>G (p.Thr659=)
n.1992C>G
11g.68406672C>TCA475516367LRP5c.1950C>T (p.Thr650=)
c.*556C>T (n.*556C>T)
c.207C>T (p.Thr69=)
c.1977C>T (p.Thr659=)
n.1992C>T
11g.68406673A>CCA381615635LRP5c.1951A>C (p.Ser651Arg)
c.*557A>C (n.*557A>C)
c.208A>C (p.Ser70Arg)
c.1978A>C (p.Ser660Arg)
n.1993A>C
11g.68406673A>GCA381615636LRP5c.1951A>G (p.Ser651Gly)
c.*557A>G (n.*557A>G)
c.208A>G (p.Ser70Gly)
c.1978A>G (p.Ser660Gly)
n.1993A>G
11g.68406673A>TCA381615637LRP5c.1951A>T (p.Ser651Cys)
c.*557A>T (n.*557A>T)
c.208A>T (p.Ser70Cys)
c.1978A>T (p.Ser660Cys)
n.1993A>T
11g.68406674G>ACA6149491LRP5c.1952G>A (p.Ser651Asn)
c.*558G>A (n.*558G>A)
c.209G>A (p.Ser70Asn)
c.1979G>A (p.Ser660Asn)
n.1994G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406674G>CCA381615638LRP5c.1952G>C (p.Ser651Thr)
c.*558G>C (n.*558G>C)
c.209G>C (p.Ser70Thr)
c.1979G>C (p.Ser660Thr)
n.1994G>C
11g.68406674G=CA1980654699LRP5c.1952G= (p.Ser651=)
c.*558G= (n.*558G=)
c.209G= (p.Ser70=)
c.1979G= (p.Ser660=)
n.1994G=
11g.68406674G>TCA381615639LRP5c.1952G>T (p.Ser651Ile)
c.*558G>T (n.*558G>T)
c.209G>T (p.Ser70Ile)
c.1979G>T (p.Ser660Ile)
n.1994G>T
11g.68406675C>ACA381615640LRP5c.1953C>A (p.Ser651Arg)
c.*559C>A (n.*559C>A)
c.210C>A (p.Ser70Arg)
c.1980C>A (p.Ser660Arg)
n.1995C>A
11g.68406675C>GCA381615641LRP5c.1953C>G (p.Ser651Arg)
c.*559C>G (n.*559C>G)
c.210C>G (p.Ser70Arg)
c.1980C>G (p.Ser660Arg)
n.1995C>G
11g.68406675C>TCA475516372LRP5c.1953C>T (p.Ser651=)
c.*559C>T (n.*559C>T)
c.210C>T (p.Ser70=)
c.1980C>T (p.Ser660=)
n.1995C>T
 gnomAD v4
11g.68406676A>CCA475516373LRP5c.1954A>C (p.Arg652=)
c.*560A>C (n.*560A>C)
c.211A>C (p.Arg71=)
c.1981A>C (p.Arg661=)
n.1996A>C
11g.68406676A>GCA381615642LRP5c.1954A>G (p.Arg652Gly)
c.*560A>G (n.*560A>G)
c.211A>G (p.Arg71Gly)
c.1981A>G (p.Arg661Gly)
n.1996A>G
 gnomAD v4
11g.68406676A>TCA381615643LRP5c.1954A>T (p.Arg652Ter)
c.*560A>T (n.*560A>T)
c.211A>T (p.Arg71Ter)
c.1981A>T (p.Arg661Ter)
n.1996A>T
11g.68406677G>ACA381615646LRP5c.1955G>A (p.Arg652Lys)
c.*561G>A (n.*561G>A)
c.212G>A (p.Arg71Lys)
c.1982G>A (p.Arg661Lys)
n.1997G>A
11g.68406677G>CCA381615645LRP5c.1955G>C (p.Arg652Thr)
c.*561G>C (n.*561G>C)
c.212G>C (p.Arg71Thr)
c.1982G>C (p.Arg661Thr)
n.1997G>C
11g.68406677G>TCA381615644LRP5c.1955G>T (p.Arg652Ile)
c.*561G>T (n.*561G>T)
c.212G>T (p.Arg71Ile)
c.1982G>T (p.Arg661Ile)
n.1997G>T
11g.68406678A=CA1980654700LRP5c.1956A= (p.Arg652=)
c.*562A= (n.*562A=)
c.213A= (p.Arg71=)
c.1983A= (p.Arg661=)
n.1998A=
11g.68406678A>CCA381615647LRP5c.1956A>C (p.Arg652Ser)
c.*562A>C (n.*562A>C)
c.213A>C (p.Arg71Ser)
c.1983A>C (p.Arg661Ser)
n.1998A>C
11g.68406678A>GCA6149492LRP5c.1956A>G (p.Arg652=)
c.*562A>G (n.*562A>G)
c.213A>G (p.Arg71=)
c.1983A>G (p.Arg661=)
n.1998A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406678A>TCA381615648LRP5c.1956A>T (p.Arg652Ser)
c.*562A>T (n.*562A>T)
c.213A>T (p.Arg71Ser)
c.1983A>T (p.Arg661Ser)
n.1998A>T
11g.68406679G>ACA381615649LRP5c.1957G>A (p.Ala653Thr)
c.*563G>A (n.*563G>A)
c.214G>A (p.Ala72Thr)
c.1984G>A (p.Ala662Thr)
n.1999G>A
11g.68406679G>CCA381615650LRP5c.1957G>C (p.Ala653Pro)
c.*563G>C (n.*563G>C)
c.214G>C (p.Ala72Pro)
c.1984G>C (p.Ala662Pro)
n.1999G>C
11g.68406679G>TCA381615651LRP5c.1957G>T (p.Ala653Ser)
c.*563G>T (n.*563G>T)
c.214G>T (p.Ala72Ser)
c.1984G>T (p.Ala662Ser)
n.1999G>T
11g.68406680C>ACA381615652LRP5c.1958C>A (p.Ala653Asp)
c.*564C>A (n.*564C>A)
c.215C>A (p.Ala72Asp)
c.1985C>A (p.Ala662Asp)
n.2000C>A
11g.68406680C=CA1980654701LRP5c.1958C= (p.Ala653=)
c.*564C= (n.*564C=)
c.215C= (p.Ala72=)
c.1985C= (p.Ala662=)
n.2000C=
11g.68406680C>GCA381615653LRP5c.1958C>G (p.Ala653Gly)
c.*564C>G (n.*564C>G)
c.215C>G (p.Ala72Gly)
c.1985C>G (p.Ala662Gly)
n.2000C>G
11g.68406680C>TCA381615654LRP5c.1958C>T (p.Ala653Val)
c.*564C>T (n.*564C>T)
c.215C>T (p.Ala72Val)
c.1985C>T (p.Ala662Val)
n.2000C>T
 dbSNP
11g.68406681C>ACA6149493LRP5c.1959C>A (p.Ala653=)
c.*565C>A (n.*565C>A)
c.216C>A (p.Ala72=)
c.1986C>A (p.Ala662=)
n.2001C>A
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.68406681C=CA1980654702LRP5c.1959C= (p.Ala653=)
c.*565C= (n.*565C=)
c.216C= (p.Ala72=)
c.1986C= (p.Ala662=)
n.2001C=
11g.68406681C>GCA475516377LRP5c.1959C>G (p.Ala653=)
c.*565C>G (n.*565C>G)
c.216C>G (p.Ala72=)
c.1986C>G (p.Ala662=)
n.2001C>G
 gnomAD v4
11g.68406681C>TCA6149494LRP5c.1959C>T (p.Ala653=)
c.*565C>T (n.*565C>T)
c.216C>T (p.Ala72=)
c.1986C>T (p.Ala662=)
n.2001C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406682G>ACA6149496LRP5c.1960G>A (p.Ala654Thr)
c.*566G>A (n.*566G>A)
c.217G>A (p.Ala73Thr)
c.1987G>A (p.Ala663Thr)
n.2002G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68406682G>CCA381615655LRP5c.1960G>C (p.Ala654Pro)
c.*566G>C (n.*566G>C)
c.217G>C (p.Ala73Pro)
c.1987G>C (p.Ala663Pro)
n.2002G>C
11g.68406682G=CA1980654703LRP5c.1960G= (p.Ala654=)
c.*566G= (n.*566G=)
c.217G= (p.Ala73=)
c.1987G= (p.Ala663=)
n.2002G=
11g.68406682G>TCA6149495LRP5c.1960G>T (p.Ala654Ser)
c.*566G>T (n.*566G>T)
c.217G>T (p.Ala73Ser)
c.1987G>T (p.Ala663Ser)
n.2002G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68406683C>ACA381615656LRP5c.1961C>A (p.Ala654Asp)
c.*567C>A (n.*567C>A)
c.218C>A (p.Ala73Asp)
c.1988C>A (p.Ala663Asp)
n.2003C>A
11g.68406683C=CA1980654704LRP5c.1961C= (p.Ala654=)
c.*567C= (n.*567C=)
c.218C= (p.Ala73=)
c.1988C= (p.Ala663=)
n.2003C=
11g.68406683C>GCA381615657LRP5c.1961C>G (p.Ala654Gly)
c.*567C>G (n.*567C>G)
c.218C>G (p.Ala73Gly)
c.1988C>G (p.Ala663Gly)
n.2003C>G
11g.68406683C>TCA381615658LRP5c.1961C>T (p.Ala654Val)
c.*567C>T (n.*567C>T)
c.218C>T (p.Ala73Val)
c.1988C>T (p.Ala663Val)
n.2003C>T
 dbSNP
11g.68406684C>ACA475516382LRP5c.1962C>A (p.Ala654=)
c.*568C>A (n.*568C>A)
c.219C>A (p.Ala73=)
c.1989C>A (p.Ala663=)
n.2004C>A
11g.68406684C>GCA475516380LRP5c.1962C>G (p.Ala654=)
c.*568C>G (n.*568C>G)
c.219C>G (p.Ala73=)
c.1989C>G (p.Ala663=)
n.2004C>G
11g.68406684C>TCA475516381LRP5c.1962C>T (p.Ala654=)
c.*568C>T (n.*568C>T)
c.219C>T (p.Ala73=)
c.1989C>T (p.Ala663=)
n.2004C>T
11g.68406685A=CA1980654705LRP5c.1963A= (p.Ile655=)
c.*569A= (n.*569A=)
c.220A= (p.Ile74=)
c.1990A= (p.Ile664=)
n.2005A=
11g.68406685A>CCA381615659LRP5c.1963A>C (p.Ile655Leu)
c.*569A>C (n.*569A>C)
c.220A>C (p.Ile74Leu)
c.1990A>C (p.Ile664Leu)
n.2005A>C
11g.68406685A>GCA6149497LRP5c.1963A>G (p.Ile655Val)
c.*569A>G (n.*569A>G)
c.220A>G (p.Ile74Val)
c.1990A>G (p.Ile664Val)
n.2005A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68406685A>TCA381615660LRP5c.1963A>T (p.Ile655Phe)
c.*569A>T (n.*569A>T)
c.220A>T (p.Ile74Phe)
c.1990A>T (p.Ile664Phe)
n.2005A>T
11g.68406686T>ACA381615661LRP5c.1964T>A (p.Ile655Asn)
c.*570T>A (n.*570T>A)
c.221T>A (p.Ile74Asn)
c.1991T>A (p.Ile664Asn)
n.2006T>A
11g.68406686T>CCA381615662LRP5c.1964T>C (p.Ile655Thr)
c.*570T>C (n.*570T>C)
c.221T>C (p.Ile74Thr)
c.1991T>C (p.Ile664Thr)
n.2006T>C
11g.68406686T>GCA381615663LRP5c.1964T>G (p.Ile655Ser)
c.*570T>G (n.*570T>G)
c.221T>G (p.Ile74Ser)
c.1991T>G (p.Ile664Ser)
n.2006T>G
11g.68406687C>ACA475516384LRP5c.1965C>A (p.Ile655=)
c.*571C>A (n.*571C>A)
c.222C>A (p.Ile74=)
c.1992C>A (p.Ile664=)
n.2007C>A
 gnomAD v4
11g.68406687C>GCA381615664LRP5c.1965C>G (p.Ile655Met)
c.*571C>G (n.*571C>G)
c.222C>G (p.Ile74Met)
c.1992C>G (p.Ile664Met)
n.2007C>G
11g.68406687C>TCA475516385LRP5c.1965C>T (p.Ile655=)
c.*571C>T (n.*571C>T)
c.222C>T (p.Ile74=)
c.1992C>T (p.Ile664=)
n.2007C>T
11g.68406688delCA2695214918LRP5c.1966del (p.His656ThrfsTer?)
c.*572del (n.*572del)
c.223del (p.His75ThrfsTer?)
c.1993del (p.His665ThrfsTer?)
n.2008del
11g.68406688C>ACA381615665LRP5c.1966C>A (p.His656Asn)
c.*572C>A (n.*572C>A)
c.223C>A (p.His75Asn)
c.1993C>A (p.His665Asn)
n.2008C>A
11g.68406688C>GCA381615666LRP5c.1966C>G (p.His656Asp)
c.*572C>G (n.*572C>G)
c.223C>G (p.His75Asp)
c.1993C>G (p.His665Asp)
n.2008C>G
11g.68406688C>TCA381615667LRP5c.1966C>T (p.His656Tyr)
c.*572C>T (n.*572C>T)
c.223C>T (p.His75Tyr)
c.1993C>T (p.His665Tyr)
n.2008C>T
 gnomAD v4 COSMIC
11g.68406689A>CCA381615668LRP5c.1967A>C (p.His656Pro)
c.*573A>C (n.*573A>C)
c.224A>C (p.His75Pro)
c.1994A>C (p.His665Pro)
n.2009A>C
11g.68406689A>GCA381615669LRP5c.1967A>G (p.His656Arg)
c.*573A>G (n.*573A>G)
c.224A>G (p.His75Arg)
c.1994A>G (p.His665Arg)
n.2009A>G
11g.68406689A>TCA381615670LRP5c.1967A>T (p.His656Leu)
c.*573A>T (n.*573A>T)
c.224A>T (p.His75Leu)
c.1994A>T (p.His665Leu)
n.2009A>T
11g.68406690C>ACA381615672LRP5c.1968C>A (p.His656Gln)
c.*574C>A (n.*574C>A)
c.225C>A (p.His75Gln)
c.1995C>A (p.His665Gln)
n.2010C>A
11g.68406690C=CA1980654706LRP5c.1968C= (p.His656=)
c.*574C= (n.*574C=)
c.225C= (p.His75=)
c.1995C= (p.His665=)
n.2010C=
11g.68406690C>GCA381615671LRP5c.1968C>G (p.His656Gln)
c.*574C>G (n.*574C>G)
c.225C>G (p.His75Gln)
c.1995C>G (p.His665Gln)
n.2010C>G
11g.68406690C>TCA203741LRP5c.1968C>T (p.His656=)
c.*574C>T (n.*574C>T)
c.225C>T (p.His75=)
c.1995C>T (p.His665=)
n.2010C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406691A>CCA475516387LRP5c.1969A>C (p.Arg657=)
c.*575A>C (n.*575A>C)
c.226A>C (p.Arg76=)
c.1996A>C (p.Arg666=)
n.2011A>C
11g.68406691A>GCA381615673LRP5c.1969A>G (p.Arg657Gly)
c.*575A>G (n.*575A>G)
c.226A>G (p.Arg76Gly)
c.1996A>G (p.Arg666Gly)
n.2011A>G
11g.68406691A>TCA381615674LRP5c.1969A>T (p.Arg657Trp)
c.*575A>T (n.*575A>T)
c.226A>T (p.Arg76Trp)
c.1996A>T (p.Arg666Trp)
n.2011A>T
11g.68406692G>ACA381615675LRP5c.1970G>A (p.Arg657Lys)
c.*576G>A (n.*576G>A)
c.227G>A (p.Arg76Lys)
c.1997G>A (p.Arg666Lys)
n.2012G>A
11g.68406692G>CCA381615676LRP5c.1970G>C (p.Arg657Thr)
c.*576G>C (n.*576G>C)
c.227G>C (p.Arg76Thr)
c.1997G>C (p.Arg666Thr)
n.2012G>C
11g.68406692G>TCA381615677LRP5c.1970G>T (p.Arg657Met)
c.*576G>T (n.*576G>T)
c.227G>T (p.Arg76Met)
c.1997G>T (p.Arg666Met)
n.2012G>T
11g.68406693G>ACA475516388LRP5c.1971G>A (p.Arg657=)
c.*577G>A (n.*577G>A)
c.228G>A (p.Arg76=)
c.1998G>A (p.Arg666=)
n.2013G>A
 dbSNP gnomAD v2
11g.68406693G>CCA381615678LRP5c.1971G>C (p.Arg657Ser)
c.*577G>C (n.*577G>C)
c.228G>C (p.Arg76Ser)
c.1998G>C (p.Arg666Ser)
n.2013G>C
11g.68406693G=CA1980654707LRP5c.1971G= (p.Arg657=)
c.*577G= (n.*577G=)
c.228G= (p.Arg76=)
c.1998G= (p.Arg666=)
n.2013G=
11g.68406693G>TCA381615679LRP5c.1971G>T (p.Arg657Ser)
c.*577G>T (n.*577G>T)
c.228G>T (p.Arg76Ser)
c.1998G>T (p.Arg666Ser)
n.2013G>T
 gnomAD v4 COSMIC
11g.68406694A>CCA381615680LRP5c.1972A>C (p.Ile658Leu)
c.*578A>C (n.*578A>C)
c.229A>C (p.Ile77Leu)
c.1999A>C (p.Ile667Leu)
n.2014A>C
11g.68406694A>GCA381615681LRP5c.1972A>G (p.Ile658Val)
c.*578A>G (n.*578A>G)
c.229A>G (p.Ile77Val)
c.1999A>G (p.Ile667Val)
n.2014A>G
11g.68406694A>TCA381615682LRP5c.1972A>T (p.Ile658Phe)
c.*578A>T (n.*578A>T)
c.229A>T (p.Ile77Phe)
c.1999A>T (p.Ile667Phe)
n.2014A>T
11g.68406695T>ACA381615683LRP5c.1973T>A (p.Ile658Asn)
c.*579T>A (n.*579T>A)
c.230T>A (p.Ile77Asn)
c.2000T>A (p.Ile667Asn)
n.2015T>A
11g.68406695T>CCA381615684LRP5c.1973T>C (p.Ile658Thr)
c.*579T>C (n.*579T>C)
c.230T>C (p.Ile77Thr)
c.2000T>C (p.Ile667Thr)
n.2015T>C
11g.68406695T>GCA381615685LRP5c.1973T>G (p.Ile658Ser)
c.*579T>G (n.*579T>G)
c.230T>G (p.Ile77Ser)
c.2000T>G (p.Ile667Ser)
n.2015T>G
11g.68406696C>ACA6149498LRP5c.1974C>A (p.Ile658=)
c.*580C>A (n.*580C>A)
c.231C>A (p.Ile77=)
c.2001C>A (p.Ile667=)
n.2016C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.68406696C=CA1980654708LRP5c.1974C= (p.Ile658=)
c.*580C= (n.*580C=)
c.231C= (p.Ile77=)
c.2001C= (p.Ile667=)
n.2016C=
11g.68406696C>GCA381615686LRP5c.1974C>G (p.Ile658Met)
c.*580C>G (n.*580C>G)
c.231C>G (p.Ile77Met)
c.2001C>G (p.Ile667Met)
n.2016C>G
11g.68406696C>TCA475516392LRP5c.1974C>T (p.Ile658=)
c.*580C>T (n.*580C>T)
c.231C>T (p.Ile77=)
c.2001C>T (p.Ile667=)
n.2016C>T
11g.68406697T>ACA381615687LRP5c.1975T>A (p.Ser659Thr)
c.*581T>A (n.*581T>A)
c.232T>A (p.Ser78Thr)
c.2002T>A (p.Ser668Thr)
n.2017T>A
 COSMIC
11g.68406697T>CCA381615688LRP5c.1975T>C (p.Ser659Pro)
c.*581T>C (n.*581T>C)
c.232T>C (p.Ser78Pro)
c.2002T>C (p.Ser668Pro)
n.2017T>C
11g.68406697T>GCA381615689LRP5c.1975T>G (p.Ser659Ala)
c.*581T>G (n.*581T>G)
c.232T>G (p.Ser78Ala)
c.2002T>G (p.Ser668Ala)
n.2017T>G
 gnomAD v4
11g.68406698C>ACA381615690LRP5c.1976C>A (p.Ser659Tyr)
c.*582C>A (n.*582C>A)
c.233C>A (p.Ser78Tyr)
c.2003C>A (p.Ser668Tyr)
n.2018C>A
11g.68406698C=CA1980654709LRP5c.1976C= (p.Ser659=)
c.*582C= (n.*582C=)
c.233C= (p.Ser78=)
c.2003C= (p.Ser668=)
n.2018C=
11g.68406698C>GCA381615691LRP5c.1976C>G (p.Ser659Cys)
c.*582C>G (n.*582C>G)
c.233C>G (p.Ser78Cys)
c.2003C>G (p.Ser668Cys)
n.2018C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68406698C>TCA381615692LRP5c.1976C>T (p.Ser659Phe)
c.*582C>T (n.*582C>T)
c.233C>T (p.Ser78Phe)
c.2003C>T (p.Ser668Phe)
n.2018C>T
11g.68406699C>ACA475516396LRP5c.1977C>A (p.Ser659=)
c.*583C>A (n.*583C>A)
c.234C>A (p.Ser78=)
c.2004C>A (p.Ser668=)
n.2019C>A
11g.68406699C=CA1980654710LRP5c.1977C= (p.Ser659=)
c.*583C= (n.*583C=)
c.234C= (p.Ser78=)
c.2004C= (p.Ser668=)
n.2019C=
11g.68406699C>GCA475516397LRP5c.1977C>G (p.Ser659=)
c.*583C>G (n.*583C>G)
c.234C>G (p.Ser78=)
c.2004C>G (p.Ser668=)
n.2019C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68406699C>TCA475516398LRP5c.1977C>T (p.Ser659=)
c.*583C>T (n.*583C>T)
c.234C>T (p.Ser78=)
c.2004C>T (p.Ser668=)
n.2019C>T
11g.68406700C>ACA381615693LRP5c.1978C>A (p.Leu660Ile)
c.*584C>A (n.*584C>A)
c.235C>A (p.Leu79Ile)
c.2005C>A (p.Leu669Ile)
n.2020C>A
11g.68406700C>GCA381615694LRP5c.1978C>G (p.Leu660Val)
c.*584C>G (n.*584C>G)
c.235C>G (p.Leu79Val)
c.2005C>G (p.Leu669Val)
n.2020C>G
11g.68406700C>TCA381615695LRP5c.1978C>T (p.Leu660Phe)
c.*584C>T (n.*584C>T)
c.235C>T (p.Leu79Phe)
c.2005C>T (p.Leu669Phe)
n.2020C>T
 ClinVar gnomAD v4
11g.68406701T>ACA381615696LRP5c.1979T>A (p.Leu660His)
c.*585T>A (n.*585T>A)
c.236T>A (p.Leu79His)
c.2006T>A (p.Leu669His)
n.2021T>A
11g.68406701T>CCA381615697LRP5c.1979T>C (p.Leu660Pro)
c.*585T>C (n.*585T>C)
c.236T>C (p.Leu79Pro)
c.2006T>C (p.Leu669Pro)
n.2021T>C
11g.68406701T>GCA381615698LRP5c.1979T>G (p.Leu660Arg)
c.*585T>G (n.*585T>G)
c.236T>G (p.Leu79Arg)
c.2006T>G (p.Leu669Arg)
n.2021T>G
11g.68406702C>ACA475516399LRP5c.1980C>A (p.Leu660=)
c.*586C>A (n.*586C>A)
c.237C>A (p.Leu79=)
c.2007C>A (p.Leu669=)
n.2022C>A
 gnomAD v4
11g.68406702C=CA1980654711LRP5c.1980C= (p.Leu660=)
c.*586C= (n.*586C=)
c.237C= (p.Leu79=)
c.2007C= (p.Leu669=)
n.2022C=
11g.68406702C>GCA475516400LRP5c.1980C>G (p.Leu660=)
c.*586C>G (n.*586C>G)
c.237C>G (p.Leu79=)
c.2007C>G (p.Leu669=)
n.2022C>G
11g.68406702C>TCA6149499LRP5c.1980C>T (p.Leu660=)
c.*586C>T (n.*586C>T)
c.237C>T (p.Leu79=)
c.2007C>T (p.Leu669=)
n.2022C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406703G>ACA224268348LRP5c.1981G>A (p.Glu661Lys)
c.*587G>A (n.*587G>A)
c.238G>A (p.Glu80Lys)
c.2008G>A (p.Glu670Lys)
n.2023G>A
 dbSNP gnomAD v2 gnomAD v4
11g.68406703G>CCA381615700LRP5c.1981G>C (p.Glu661Gln)
c.*587G>C (n.*587G>C)
c.238G>C (p.Glu80Gln)
c.2008G>C (p.Glu670Gln)
n.2023G>C
 ClinVar
11g.68406703G=CA1980654712LRP5c.1981G= (p.Glu661=)
c.*587G= (n.*587G=)
c.238G= (p.Glu80=)
c.2008G= (p.Glu670=)
n.2023G=
11g.68406703G>TCA381615699LRP5c.1981G>T (p.Glu661Ter)
c.*587G>T (n.*587G>T)
c.238G>T (p.Glu80Ter)
c.2008G>T (p.Glu670Ter)
n.2023G>T
11g.68406704A>CCA381615701LRP5c.1982A>C (p.Glu661Ala)
c.*588A>C (n.*588A>C)
c.239A>C (p.Glu80Ala)
c.2009A>C (p.Glu670Ala)
n.2024A>C
11g.68406704A>GCA381615703LRP5c.1982A>G (p.Glu661Gly)
c.*588A>G (n.*588A>G)
c.239A>G (p.Glu80Gly)
c.2009A>G (p.Glu670Gly)
n.2024A>G
11g.68406704A>TCA381615702LRP5c.1982A>T (p.Glu661Val)
c.*588A>T (n.*588A>T)
c.239A>T (p.Glu80Val)
c.2009A>T (p.Glu670Val)
n.2024A>T
11g.68406705G>ACA475516403LRP5c.1983G>A (p.Glu661=)
c.*589G>A (n.*589G>A)
c.240G>A (p.Glu80=)
c.2010G>A (p.Glu670=)
n.2025G>A
11g.68406705G>CCA381615704LRP5c.1983G>C (p.Glu661Asp)
c.*589G>C (n.*589G>C)
c.240G>C (p.Glu80Asp)
c.2010G>C (p.Glu670Asp)
n.2025G>C
 gnomAD v4
11g.68406705G>TCA381615705LRP5c.1983G>T (p.Glu661Asp)
c.*589G>T (n.*589G>T)
c.240G>T (p.Glu80Asp)
c.2010G>T (p.Glu670Asp)
n.2025G>T
11g.68406706A>CCA381615706LRP5c.1984A>C (p.Thr662Pro)
c.*590A>C (n.*590A>C)
c.241A>C (p.Thr81Pro)
c.2011A>C (p.Thr671Pro)
n.2026A>C
11g.68406706A>GCA381615707LRP5c.1984A>G (p.Thr662Ala)
c.*590A>G (n.*590A>G)
c.241A>G (p.Thr81Ala)
c.2011A>G (p.Thr671Ala)
n.2026A>G
11g.68406706A>TCA381615708LRP5c.1984A>T (p.Thr662Ser)
c.*590A>T (n.*590A>T)
c.241A>T (p.Thr81Ser)
c.2011A>T (p.Thr671Ser)
n.2026A>T
11g.68406707C>ACA381615709LRP5c.1985C>A (p.Thr662Asn)
c.*591C>A (n.*591C>A)
c.242C>A (p.Thr81Asn)
c.2012C>A (p.Thr671Asn)
n.2027C>A
 gnomAD v4
11g.68406707C=CA1980654713LRP5c.1985C= (p.Thr662=)
c.*591C= (n.*591C=)
c.242C= (p.Thr81=)
c.2012C= (p.Thr671=)
n.2027C=
11g.68406707C>GCA381615710LRP5c.1985C>G (p.Thr662Ser)
c.*591C>G (n.*591C>G)
c.242C>G (p.Thr81Ser)
c.2012C>G (p.Thr671Ser)
n.2027C>G
11g.68406707C>TCA381615711LRP5c.1985C>T (p.Thr662Ile)
c.*591C>T (n.*591C>T)
c.242C>T (p.Thr81Ile)
c.2012C>T (p.Thr671Ile)
n.2027C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68406708C>ACA475516405LRP5c.1986C>A (p.Thr662=)
c.*592C>A (n.*592C>A)
c.243C>A (p.Thr81=)
c.2013C>A (p.Thr671=)
n.2028C>A
11g.68406708C>GCA475516406LRP5c.1986C>G (p.Thr662=)
c.*592C>G (n.*592C>G)
c.243C>G (p.Thr81=)
c.2013C>G (p.Thr671=)
n.2028C>G
11g.68406708C>TCA475516407LRP5c.1986C>T (p.Thr662=)
c.*592C>T (n.*592C>T)
c.243C>T (p.Thr81=)
c.2013C>T (p.Thr671=)
n.2028C>T
11g.68406709A>CCA381615712LRP5c.1987A>C (p.Asn663His)
c.*593A>C (n.*593A>C)
c.244A>C (p.Asn82His)
c.2014A>C (p.Asn672His)
n.2029A>C
11g.68406709A>GCA381615713LRP5c.1987A>G (p.Asn663Asp)
c.*593A>G (n.*593A>G)
c.244A>G (p.Asn82Asp)
c.2014A>G (p.Asn672Asp)
n.2029A>G
11g.68406709A>TCA381615714LRP5c.1987A>T (p.Asn663Tyr)
c.*593A>T (n.*593A>T)
c.244A>T (p.Asn82Tyr)
c.2014A>T (p.Asn672Tyr)
n.2029A>T
11g.68406710delCA2614713169LRP5c.1988del (p.Asn663IlefsTer?)
c.*594del (n.*594del)
c.245del (p.Asn82IlefsTer?)
c.2015del (p.Asn672IlefsTer?)
n.2030del
 gnomAD v4
11g.68406710A=CA1980654714LRP5c.1988A= (p.Asn663=)
c.*594A= (n.*594A=)
c.245A= (p.Asn82=)
c.2015A= (p.Asn672=)
n.2030A=
11g.68406710A>CCA381615715LRP5c.1988A>C (p.Asn663Thr)
c.*594A>C (n.*594A>C)
c.245A>C (p.Asn82Thr)
c.2015A>C (p.Asn672Thr)
n.2030A>C
11g.68406710A>GCA381615716LRP5c.1988A>G (p.Asn663Ser)
c.*594A>G (n.*594A>G)
c.245A>G (p.Asn82Ser)
c.2015A>G (p.Asn672Ser)
n.2030A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68406710A>TCA381615717LRP5c.1988A>T (p.Asn663Ile)
c.*594A>T (n.*594A>T)
c.245A>T (p.Asn82Ile)
c.2015A>T (p.Asn672Ile)
n.2030A>T
11g.68406711T>ACA381615719LRP5c.1989T>A (p.Asn663Lys)
c.*595T>A (n.*595T>A)
c.246T>A (p.Asn82Lys)
c.2016T>A (p.Asn672Lys)
n.2031T>A
 dbSNP
11g.68406711T>CCA475516408LRP5c.1989T>C (p.Asn663=)
c.*595T>C (n.*595T>C)
c.246T>C (p.Asn82=)
c.2016T>C (p.Asn672=)
n.2031T>C
 ClinVar dbSNP gnomAD v4
11g.68406711T>GCA381615718LRP5c.1989T>G (p.Asn663Lys)
c.*595T>G (n.*595T>G)
c.246T>G (p.Asn82Lys)
c.2016T>G (p.Asn672Lys)
n.2031T>G
11g.68406711T=CA1980654715LRP5c.1989T= (p.Asn663=)
c.*595T= (n.*595T=)
c.246T= (p.Asn82=)
c.2016T= (p.Asn672=)
n.2031T=
11g.68406711_68406714delinsTAACCA1980654716LRP5c.1989_1992delinsTAAC (p.Asn663=)
c.*595_*598delinsTAAC (n.*595_*598delinsTAAC)
c.246_249delinsTAAC (p.Asn82=)
c.2016_2019delinsTAAC (p.Asn672=)
n.2031_2034delinsTAAC
11g.68406712A>CCA381615720LRP5c.1990A>C (p.Asn664His)
c.*596A>C (n.*596A>C)
c.247A>C (p.Asn83His)
c.2017A>C (p.Asn673His)
n.2032A>C
11g.68406712A>GCA381615721LRP5c.1990A>G (p.Asn664Asp)
c.*596A>G (n.*596A>G)
c.247A>G (p.Asn83Asp)
c.2017A>G (p.Asn673Asp)
n.2032A>G
11g.68406712A>TCA381615722LRP5c.1990A>T (p.Asn664Tyr)
c.*596A>T (n.*596A>T)
c.247A>T (p.Asn83Tyr)
c.2017A>T (p.Asn673Tyr)
n.2032A>T
11g.68406715_68406717delCA6149500LRP5c.1993_1995del (p.Asn665del)
c.*599_*601del (n.*599_*601del)
c.250_252del (p.Asn84del)
c.2020_2022del (p.Asn674del)
n.2035_2037del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406713A>CCA381615723LRP5c.1991A>C (p.Asn664Thr)
c.*597A>C (n.*597A>C)
c.248A>C (p.Asn83Thr)
c.2018A>C (p.Asn673Thr)
n.2033A>C
11g.68406713A>GCA381615724LRP5c.1991A>G (p.Asn664Ser)
c.*597A>G (n.*597A>G)
c.248A>G (p.Asn83Ser)
c.2018A>G (p.Asn673Ser)
n.2033A>G
11g.68406713A>TCA381615725LRP5c.1991A>T (p.Asn664Ile)
c.*597A>T (n.*597A>T)
c.248A>T (p.Asn83Ile)
c.2018A>T (p.Asn673Ile)
n.2033A>T
11g.68406714C>ACA381615726LRP5c.1992C>A (p.Asn664Lys)
c.*598C>A (n.*598C>A)
c.249C>A (p.Asn83Lys)
c.2019C>A (p.Asn673Lys)
n.2034C>A
11g.68406714C=CA1980654717LRP5c.1992C= (p.Asn664=)
c.*598C= (n.*598C=)
c.249C= (p.Asn83=)
c.2019C= (p.Asn673=)
n.2034C=
11g.68406714C>GCA381615727LRP5c.1992C>G (p.Asn664Lys)
c.*598C>G (n.*598C>G)
c.249C>G (p.Asn83Lys)
c.2019C>G (p.Asn673Lys)
n.2034C>G
 gnomAD v4
11g.68406714C>TCA6149501LRP5c.1992C>T (p.Asn664=)
c.*598C>T (n.*598C>T)
c.249C>T (p.Asn83=)
c.2019C>T (p.Asn673=)
n.2034C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406715A=CA1980654718LRP5c.1993A= (p.Asn665=)
c.*599A= (n.*599A=)
c.250A= (p.Asn84=)
c.2020A= (p.Asn674=)
n.2035A=
11g.68406715A>CCA381615728LRP5c.1993A>C (p.Asn665His)
c.*599A>C (n.*599A>C)
c.250A>C (p.Asn84His)
c.2020A>C (p.Asn674His)
n.2035A>C
 ClinVar
11g.68406715A>GCA381615729LRP5c.1993A>G (p.Asn665Asp)
c.*599A>G (n.*599A>G)
c.250A>G (p.Asn84Asp)
c.2020A>G (p.Asn674Asp)
n.2035A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68406715A>TCA381615730LRP5c.1993A>T (p.Asn665Tyr)
c.*599A>T (n.*599A>T)
c.250A>T (p.Asn84Tyr)
c.2020A>T (p.Asn674Tyr)
n.2035A>T
11g.68406716A=CA1980654719LRP5c.1994A= (p.Asn665=)
c.*600A= (n.*600A=)
c.251A= (p.Asn84=)
c.2021A= (p.Asn674=)
n.2036A=
11g.68406716A>CCA381615733LRP5c.1994A>C (p.Asn665Thr)
c.*600A>C (n.*600A>C)
c.251A>C (p.Asn84Thr)
c.2021A>C (p.Asn674Thr)
n.2036A>C
11g.68406716A>GCA381615731LRP5c.1994A>G (p.Asn665Ser)
c.*600A>G (n.*600A>G)
c.251A>G (p.Asn84Ser)
c.2021A>G (p.Asn674Ser)
n.2036A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68406716A>TCA381615732LRP5c.1994A>T (p.Asn665Ile)
c.*600A>T (n.*600A>T)
c.251A>T (p.Asn84Ile)
c.2021A>T (p.Asn674Ile)
n.2036A>T
11g.68406717C>ACA381615734LRP5c.1995C>A (p.Asn665Lys)
c.*601C>A (n.*601C>A)
c.252C>A (p.Asn84Lys)
c.2022C>A (p.Asn674Lys)
n.2037C>A
11g.68406717C=CA1980654720LRP5c.1995C= (p.Asn665=)
c.*601C= (n.*601C=)
c.252C= (p.Asn84=)
c.2022C= (p.Asn674=)
n.2037C=
11g.68406717C>GCA381615735LRP5c.1995C>G (p.Asn665Lys)
c.*601C>G (n.*601C>G)
c.252C>G (p.Asn84Lys)
c.2022C>G (p.Asn674Lys)
n.2037C>G
 gnomAD v4
11g.68406717C>TCA6149502LRP5c.1995C>T (p.Asn665=)
c.*601C>T (n.*601C>T)
c.252C>T (p.Asn84=)
c.2022C>T (p.Asn674=)
n.2037C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406718G>ACA6149503LRP5c.1996G>A (p.Asp666Asn)
c.*602G>A (n.*602G>A)
c.253G>A (p.Asp85Asn)
c.2023G>A (p.Asp675Asn)
n.2038G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406718G>CCA381615736LRP5c.1996G>C (p.Asp666His)
c.*602G>C (n.*602G>C)
c.253G>C (p.Asp85His)
c.2023G>C (p.Asp675His)
n.2038G>C
11g.68406718G=CA1980654721LRP5c.1996G= (p.Asp666=)
c.*602G= (n.*602G=)
c.253G= (p.Asp85=)
c.2023G= (p.Asp675=)
n.2038G=
11g.68406718G>TCA381615737LRP5c.1996G>T (p.Asp666Tyr)
c.*602G>T (n.*602G>T)
c.253G>T (p.Asp85Tyr)
c.2023G>T (p.Asp675Tyr)
n.2038G>T
11g.68406719A>CCA381615738LRP5c.1997A>C (p.Asp666Ala)
c.*603A>C (n.*603A>C)
c.254A>C (p.Asp85Ala)
c.2024A>C (p.Asp675Ala)
n.2039A>C
11g.68406719A>GCA381615739LRP5c.1997A>G (p.Asp666Gly)
c.*603A>G (n.*603A>G)
c.254A>G (p.Asp85Gly)
c.2024A>G (p.Asp675Gly)
n.2039A>G
11g.68406719A>TCA381615740LRP5c.1997A>T (p.Asp666Val)
c.*603A>T (n.*603A>T)
c.254A>T (p.Asp85Val)
c.2024A>T (p.Asp675Val)
n.2039A>T
11g.68406720C>ACA381615741LRP5c.1998C>A (p.Asp666Glu)
c.*604C>A (n.*604C>A)
c.255C>A (p.Asp85Glu)
c.2025C>A (p.Asp675Glu)
n.2040C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68406720C=CA1980654722LRP5c.1998C= (p.Asp666=)
c.*604C= (n.*604C=)
c.255C= (p.Asp85=)
c.2025C= (p.Asp675=)
n.2040C=
11g.68406720C>GCA381615742LRP5c.1998C>G (p.Asp666Glu)
c.*604C>G (n.*604C>G)
c.255C>G (p.Asp85Glu)
c.2025C>G (p.Asp675Glu)
n.2040C>G
 ClinVar gnomAD v4
11g.68406720C>TCA6149504LRP5c.1998C>T (p.Asp666=)
c.*604C>T (n.*604C>T)
c.255C>T (p.Asp85=)
c.2025C>T (p.Asp675=)
n.2040C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406721G>ACA213422LRP5c.1999G>A (p.Val667Met)
c.*605G>A (n.*605G>A)
c.256G>A (p.Val86Met)
c.2026G>A (p.Val676Met)
n.2041G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406721G>CCA224268372LRP5c.1999G>C (p.Val667Leu)
c.*605G>C (n.*605G>C)
c.256G>C (p.Val86Leu)
c.2026G>C (p.Val676Leu)
n.2041G>C
 dbSNP
11g.68406721G=CA1980654723LRP5c.1999G= (p.Val667=)
c.*605G= (n.*605G=)
c.256G= (p.Val86=)
c.2026G= (p.Val676=)
n.2041G=
11g.68406721G>TCA381615743LRP5c.1999G>T (p.Val667Leu)
c.*605G>T (n.*605G>T)
c.256G>T (p.Val86Leu)
c.2026G>T (p.Val676Leu)
n.2041G>T
11g.68406722T>ACA381615744LRP5c.2000T>A (p.Val667Glu)
c.*606T>A (n.*606T>A)
c.257T>A (p.Val86Glu)
c.2027T>A (p.Val676Glu)
n.2042T>A
11g.68406722T>CCA381615745LRP5c.2000T>C (p.Val667Ala)
c.*606T>C (n.*606T>C)
c.257T>C (p.Val86Ala)
c.2027T>C (p.Val676Ala)
n.2042T>C
11g.68406722T>GCA381615746LRP5c.2000T>G (p.Val667Gly)
c.*606T>G (n.*606T>G)
c.257T>G (p.Val86Gly)
c.2027T>G (p.Val676Gly)
n.2042T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68406722T=CA1980654724LRP5c.2000T= (p.Val667=)
c.*606T= (n.*606T=)
c.257T= (p.Val86=)
c.2027T= (p.Val676=)
n.2042T=
11g.68406723G>ACA475516414LRP5c.2001G>A (p.Val667=)
c.*607G>A (n.*607G>A)
c.258G>A (p.Val86=)
c.2028G>A (p.Val676=)
n.2043G>A
11g.68406723G>CCA475516415LRP5c.2001G>C (p.Val667=)
c.*607G>C (n.*607G>C)
c.258G>C (p.Val86=)
c.2028G>C (p.Val676=)
n.2043G>C
11g.68406723G>TCA475516416LRP5c.2001G>T (p.Val667=)
c.*607G>T (n.*607G>T)
c.258G>T (p.Val86=)
c.2028G>T (p.Val676=)
n.2043G>T
11g.68406724G>ACA381615747LRP5c.2002G>A (p.Ala668Thr)
c.*608G>A (n.*608G>A)
c.259G>A (p.Ala87Thr)
c.2029G>A (p.Ala677Thr)
n.2044G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68406724G>CCA381615748LRP5c.2002G>C (p.Ala668Pro)
c.*608G>C (n.*608G>C)
c.259G>C (p.Ala87Pro)
c.2029G>C (p.Ala677Pro)
n.2044G>C
11g.68406724G=CA1980654725LRP5c.2002G= (p.Ala668=)
c.*608G= (n.*608G=)
c.259G= (p.Ala87=)
c.2029G= (p.Ala677=)
n.2044G=
11g.68406724G>TCA381615749LRP5c.2002G>T (p.Ala668Ser)
c.*608G>T (n.*608G>T)
c.259G>T (p.Ala87Ser)
c.2029G>T (p.Ala677Ser)
n.2044G>T
11g.68406725C>ACA381615750LRP5c.2003C>A (p.Ala668Asp)
c.*609C>A (n.*609C>A)
c.260C>A (p.Ala87Asp)
c.2030C>A (p.Ala677Asp)
n.2045C>A
11g.68406725C=CA1980654726LRP5c.2003C= (p.Ala668=)
c.*609C= (n.*609C=)
c.260C= (p.Ala87=)
c.2030C= (p.Ala677=)
n.2045C=
11g.68406725C>GCA381615751LRP5c.2003C>G (p.Ala668Gly)
c.*609C>G (n.*609C>G)
c.260C>G (p.Ala87Gly)
c.2030C>G (p.Ala677Gly)
n.2045C>G
11g.68406725C>TCA6149505LRP5c.2003C>T (p.Ala668Val)
c.*609C>T (n.*609C>T)
c.260C>T (p.Ala87Val)
c.2030C>T (p.Ala677Val)
n.2045C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406726C>ACA475516422LRP5c.2004C>A (p.Ala668=)
c.*610C>A (n.*610C>A)
c.261C>A (p.Ala87=)
c.2031C>A (p.Ala677=)
n.2046C>A
11g.68406726C>GCA475516421LRP5c.2004C>G (p.Ala668=)
c.*610C>G (n.*610C>G)
c.261C>G (p.Ala87=)
c.2031C>G (p.Ala677=)
n.2046C>G
11g.68406726C>TCA475516420LRP5c.2004C>T (p.Ala668=)
c.*610C>T (n.*610C>T)
c.261C>T (p.Ala87=)
c.2031C>T (p.Ala677=)
n.2046C>T
11g.68406727A>CCA381615752LRP5c.2005A>C (p.Ile669Leu)
c.*611A>C (n.*611A>C)
c.262A>C (p.Ile88Leu)
c.2032A>C (p.Ile678Leu)
n.2047A>C
11g.68406727A>GCA381615753LRP5c.2005A>G (p.Ile669Val)
c.*611A>G (n.*611A>G)
c.262A>G (p.Ile88Val)
c.2032A>G (p.Ile678Val)
n.2047A>G
 gnomAD v4
11g.68406727A>TCA381615754LRP5c.2005A>T (p.Ile669Phe)
c.*611A>T (n.*611A>T)
c.262A>T (p.Ile88Phe)
c.2032A>T (p.Ile678Phe)
n.2047A>T
11g.68406728T>ACA381615755LRP5c.2006T>A (p.Ile669Asn)
c.*612T>A (n.*612T>A)
c.263T>A (p.Ile88Asn)
c.2033T>A (p.Ile678Asn)
n.2048T>A
11g.68406728T>CCA381615757LRP5c.2006T>C (p.Ile669Thr)
c.*612T>C (n.*612T>C)
c.263T>C (p.Ile88Thr)
c.2033T>C (p.Ile678Thr)
n.2048T>C
11g.68406728T>GCA381615756LRP5c.2006T>G (p.Ile669Ser)
c.*612T>G (n.*612T>G)
c.263T>G (p.Ile88Ser)
c.2033T>G (p.Ile678Ser)
n.2048T>G
11g.68406729C>ACA475516424LRP5c.2007C>A (p.Ile669=)
c.*613C>A (n.*613C>A)
c.264C>A (p.Ile88=)
c.2034C>A (p.Ile678=)
n.2049C>A
11g.68406729C>GCA381615758LRP5c.2007C>G (p.Ile669Met)
c.*613C>G (n.*613C>G)
c.264C>G (p.Ile88Met)
c.2034C>G (p.Ile678Met)
n.2049C>G
11g.68406729C>TCA475516425LRP5c.2007C>T (p.Ile669=)
c.*613C>T (n.*613C>T)
c.264C>T (p.Ile88=)
c.2034C>T (p.Ile678=)
n.2049C>T
11g.68406730C>ACA381615759LRP5c.2008C>A (p.Pro670Thr)
c.*614C>A (n.*614C>A)
c.265C>A (p.Pro89Thr)
c.2035C>A (p.Pro679Thr)
n.2050C>A
11g.68406730C>GCA381615760LRP5c.2008C>G (p.Pro670Ala)
c.*614C>G (n.*614C>G)
c.265C>G (p.Pro89Ala)
c.2035C>G (p.Pro679Ala)
n.2050C>G
11g.68406730C>TCA381615761LRP5c.2008C>T (p.Pro670Ser)
c.*614C>T (n.*614C>T)
c.265C>T (p.Pro89Ser)
c.2035C>T (p.Pro679Ser)
n.2050C>T
11g.68406731C>ACA381615762LRP5c.2009C>A (p.Pro670Gln)
c.*615C>A (n.*615C>A)
c.266C>A (p.Pro89Gln)
c.2036C>A (p.Pro679Gln)
n.2051C>A
 gnomAD v4
11g.68406731C=CA1980654727LRP5c.2009C= (p.Pro670=)
c.*615C= (n.*615C=)
c.266C= (p.Pro89=)
c.2036C= (p.Pro679=)
n.2051C=
11g.68406731C>GCA381615763LRP5c.2009C>G (p.Pro670Arg)
c.*615C>G (n.*615C>G)
c.266C>G (p.Pro89Arg)
c.2036C>G (p.Pro679Arg)
n.2051C>G
11g.68406731C>TCA6149506LRP5c.2009C>T (p.Pro670Leu)
c.*615C>T (n.*615C>T)
c.266C>T (p.Pro89Leu)
c.2036C>T (p.Pro679Leu)
n.2051C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406732G>ACA6149507LRP5c.2010G>A (p.Pro670=)
c.*616G>A (n.*616G>A)
c.267G>A (p.Pro89=)
c.2037G>A (p.Pro679=)
n.2052G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406732G>CCA475516427LRP5c.2010G>C (p.Pro670=)
c.*616G>C (n.*616G>C)
c.267G>C (p.Pro89=)
c.2037G>C (p.Pro679=)
n.2052G>C
11g.68406732G=CA1980654728LRP5c.2010G= (p.Pro670=)
c.*616G= (n.*616G=)
c.267G= (p.Pro89=)
c.2037G= (p.Pro679=)
n.2052G=
11g.68406732G>TCA475516428LRP5c.2010G>T (p.Pro670=)
c.*616G>T (n.*616G>T)
c.267G>T (p.Pro89=)
c.2037G>T (p.Pro679=)
n.2052G>T
 COSMIC
11g.68406733C>ACA381615764LRP5c.2011C>A (p.Leu671Ile)
c.*617C>A (n.*617C>A)
c.268C>A (p.Leu90Ile)
c.2038C>A (p.Leu680Ile)
n.2053C>A
11g.68406733C>GCA381615765LRP5c.2011C>G (p.Leu671Val)
c.*617C>G (n.*617C>G)
c.268C>G (p.Leu90Val)
c.2038C>G (p.Leu680Val)
n.2053C>G
11g.68406733C>TCA381615766LRP5c.2011C>T (p.Leu671Phe)
c.*617C>T (n.*617C>T)
c.268C>T (p.Leu90Phe)
c.2038C>T (p.Leu680Phe)
n.2053C>T
11g.68406734T>ACA381615767LRP5c.2012T>A (p.Leu671His)
c.*618T>A (n.*618T>A)
c.269T>A (p.Leu90His)
c.2039T>A (p.Leu680His)
n.2054T>A
11g.68406734T>CCA381615768LRP5c.2012T>C (p.Leu671Pro)
c.*618T>C (n.*618T>C)
c.269T>C (p.Leu90Pro)
c.2039T>C (p.Leu680Pro)
n.2054T>C
11g.68406734T>GCA381615769LRP5c.2012T>G (p.Leu671Arg)
c.*618T>G (n.*618T>G)
c.269T>G (p.Leu90Arg)
c.2039T>G (p.Leu680Arg)
n.2054T>G
 COSMIC
11g.68406735delCA2695214919LRP5c.2013del (p.Thr672ArgfsTer25)
c.*619del (n.*619del)
c.270del (p.Thr91ArgfsTer25)
c.2040del (p.Thr681ArgfsTer25)
n.2055del
11g.68406735C>ACA475516430LRP5c.2013C>A (p.Leu671=)
c.*619C>A (n.*619C>A)
c.270C>A (p.Leu90=)
c.2040C>A (p.Leu680=)
n.2055C>A
11g.68406735C=CA1980654729LRP5c.2013C= (p.Leu671=)
c.*619C= (n.*619C=)
c.270C= (p.Leu90=)
c.2040C= (p.Leu680=)
n.2055C=
11g.68406735C>GCA475516431LRP5c.2013C>G (p.Leu671=)
c.*619C>G (n.*619C>G)
c.270C>G (p.Leu90=)
c.2040C>G (p.Leu680=)
n.2055C>G
11g.68406735C>TCA475516432LRP5c.2013C>T (p.Leu671=)
c.*619C>T (n.*619C>T)
c.270C>T (p.Leu90=)
c.2040C>T (p.Leu680=)
n.2055C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.68406736A>CCA381615770LRP5c.2014A>C (p.Thr672Pro)
c.*620A>C (n.*620A>C)
c.271A>C (p.Thr91Pro)
c.2041A>C (p.Thr681Pro)
n.2056A>C
11g.68406736A>GCA381615772LRP5c.2014A>G (p.Thr672Ala)
c.*620A>G (n.*620A>G)
c.271A>G (p.Thr91Ala)
c.2041A>G (p.Thr681Ala)
n.2056A>G
11g.68406736A>TCA381615771LRP5c.2014A>T (p.Thr672Ser)
c.*620A>T (n.*620A>T)
c.271A>T (p.Thr91Ser)
c.2041A>T (p.Thr681Ser)
n.2056A>T
11g.68406737C>ACA381615773LRP5c.2015C>A (p.Thr672Lys)
c.*621C>A (n.*621C>A)
c.272C>A (p.Thr91Lys)
c.2042C>A (p.Thr681Lys)
n.2057C>A
11g.68406737C=CA1980654730LRP5c.2015C= (p.Thr672=)
c.*621C= (n.*621C=)
c.272C= (p.Thr91=)
c.2042C= (p.Thr681=)
n.2057C=
11g.68406737C>GCA381615774LRP5c.2015C>G (p.Thr672Arg)
c.*621C>G (n.*621C>G)
c.272C>G (p.Thr91Arg)
c.2042C>G (p.Thr681Arg)
n.2057C>G
11g.68406737C>TCA6149508LRP5c.2015C>T (p.Thr672Met)
c.*621C>T (n.*621C>T)
c.272C>T (p.Thr91Met)
c.2042C>T (p.Thr681Met)
n.2057C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406738G>ACA6149509LRP5c.2016G>A (p.Thr672=)
c.*622G>A (n.*622G>A)
c.273G>A (p.Thr91=)
c.2043G>A (p.Thr681=)
n.2058G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406738G>CCA475516436LRP5c.2016G>C (p.Thr672=)
c.*622G>C (n.*622G>C)
c.273G>C (p.Thr91=)
c.2043G>C (p.Thr681=)
n.2058G>C
11g.68406738G=CA1980654731LRP5c.2016G= (p.Thr672=)
c.*622G= (n.*622G=)
c.273G= (p.Thr91=)
c.2043G= (p.Thr681=)
n.2058G=
11g.68406738G>TCA475516437LRP5c.2016G>T (p.Thr672=)
c.*622G>T (n.*622G>T)
c.273G>T (p.Thr91=)
c.2043G>T (p.Thr681=)
n.2058G>T
 gnomAD v4
11g.68406739G>ACA381615775LRP5c.2017G>A (p.Gly673Ser)
c.*623G>A (n.*623G>A)
c.274G>A (p.Gly92Ser)
c.2044G>A (p.Gly682Ser)
n.2059G>A
 COSMIC
11g.68406739G>CCA381615776LRP5c.2017G>C (p.Gly673Arg)
c.*623G>C (n.*623G>C)
c.274G>C (p.Gly92Arg)
c.2044G>C (p.Gly682Arg)
n.2059G>C
11g.68406739G>TCA381615777LRP5c.2017G>T (p.Gly673Cys)
c.*623G>T (n.*623G>T)
c.274G>T (p.Gly92Cys)
c.2044G>T (p.Gly682Cys)
n.2059G>T
11g.68406740G>ACA381615778LRP5c.2018G>A (p.Gly673Asp)
c.*624G>A (n.*624G>A)
c.275G>A (p.Gly92Asp)
c.2045G>A (p.Gly682Asp)
n.2060G>A
 ClinVar dbSNP
11g.68406740G>CCA381615779LRP5c.2018G>C (p.Gly673Ala)
c.*624G>C (n.*624G>C)
c.275G>C (p.Gly92Ala)
c.2045G>C (p.Gly682Ala)
n.2060G>C
11g.68406740G=CA1980654732LRP5c.2018G= (p.Gly673=)
c.*624G= (n.*624G=)
c.275G= (p.Gly92=)
c.2045G= (p.Gly682=)
n.2060G=
11g.68406740G>TCA381615780LRP5c.2018G>T (p.Gly673Val)
c.*624G>T (n.*624G>T)
c.275G>T (p.Gly92Val)
c.2045G>T (p.Gly682Val)
n.2060G>T
 dbSNP
11g.68406741C>ACA475516439LRP5c.2019C>A (p.Gly673=)
c.*625C>A (n.*625C>A)
c.276C>A (p.Gly92=)
c.2046C>A (p.Gly682=)
n.2061C>A
 dbSNP
11g.68406741C=CA1980654733LRP5c.2019C= (p.Gly673=)
c.*625C= (n.*625C=)
c.276C= (p.Gly92=)
c.2046C= (p.Gly682=)
n.2061C=
11g.68406741C>GCA475516440LRP5c.2019C>G (p.Gly673=)
c.*625C>G (n.*625C>G)
c.276C>G (p.Gly92=)
c.2046C>G (p.Gly682=)
n.2061C>G
11g.68406741C>TCA6149510LRP5c.2019C>T (p.Gly673=)
c.*625C>T (n.*625C>T)
c.276C>T (p.Gly92=)
c.2046C>T (p.Gly682=)
n.2061C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406742G>ACA224268405LRP5c.2020G>A (p.Val674Ile)
c.*626G>A (n.*626G>A)
c.277G>A (p.Val93Ile)
c.2047G>A (p.Val683Ile)
n.2062G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68406742G>CCA381615782LRP5c.2020G>C (p.Val674Leu)
c.*626G>C (n.*626G>C)
c.277G>C (p.Val93Leu)
c.2047G>C (p.Val683Leu)
n.2062G>C
11g.68406742G=CA1980654734LRP5c.2020G= (p.Val674=)
c.*626G= (n.*626G=)
c.277G= (p.Val93=)
c.2047G= (p.Val683=)
n.2062G=
11g.68406742G>TCA381615781LRP5c.2020G>T (p.Val674Phe)
c.*626G>T (n.*626G>T)
c.277G>T (p.Val93Phe)
c.2047G>T (p.Val683Phe)
n.2062G>T
 gnomAD v4
11g.68406743T>ACA381615783LRP5c.2021T>A (p.Val674Asp)
c.*627T>A (n.*627T>A)
c.278T>A (p.Val93Asp)
c.2048T>A (p.Val683Asp)
n.2063T>A
11g.68406743T>CCA381615784LRP5c.2021T>C (p.Val674Ala)
c.*627T>C (n.*627T>C)
c.278T>C (p.Val93Ala)
c.2048T>C (p.Val683Ala)
n.2063T>C
11g.68406743T>GCA381615785LRP5c.2021T>G (p.Val674Gly)
c.*627T>G (n.*627T>G)
c.278T>G (p.Val93Gly)
c.2048T>G (p.Val683Gly)
n.2063T>G
11g.68406744C>ACA475516441LRP5c.2022C>A (p.Val674=)
c.*628C>A (n.*628C>A)
c.279C>A (p.Val93=)
c.2049C>A (p.Val683=)
n.2064C>A
11g.68406744C=CA1980654735LRP5c.2022C= (p.Val674=)
c.*628C= (n.*628C=)
c.279C= (p.Val93=)
c.2049C= (p.Val683=)
n.2064C=
11g.68406744C>GCA475516442LRP5c.2022C>G (p.Val674=)
c.*628C>G (n.*628C>G)
c.279C>G (p.Val93=)
c.2049C>G (p.Val683=)
n.2064C>G
11g.68406744C>TCA6149511LRP5c.2022C>T (p.Val674=)
c.*628C>T (n.*628C>T)
c.279C>T (p.Val93=)
c.2049C>T (p.Val683=)
n.2064C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406745A>CCA381615786LRP5c.2023A>C (p.Lys675Gln)
c.*629A>C (n.*629A>C)
c.280A>C (p.Lys94Gln)
c.2050A>C (p.Lys684Gln)
n.2065A>C
11g.68406745A>GCA381615787LRP5c.2023A>G (p.Lys675Glu)
c.*629A>G (n.*629A>G)
c.280A>G (p.Lys94Glu)
c.2050A>G (p.Lys684Glu)
n.2065A>G
11g.68406745A>TCA381615788LRP5c.2023A>T (p.Lys675Ter)
c.*629A>T (n.*629A>T)
c.280A>T (p.Lys94Ter)
c.2050A>T (p.Lys684Ter)
n.2065A>T
11g.68406746A=CA1980654736LRP5c.2024A= (p.Lys675=)
c.*630A= (n.*630A=)
c.281A= (p.Lys94=)
c.2051A= (p.Lys684=)
n.2066A=
11g.68406746A>CCA381615789LRP5c.2024A>C (p.Lys675Thr)
c.*630A>C (n.*630A>C)
c.281A>C (p.Lys94Thr)
c.2051A>C (p.Lys684Thr)
n.2066A>C
11g.68406746A>GCA6149512LRP5c.2024A>G (p.Lys675Arg)
c.*630A>G (n.*630A>G)
c.281A>G (p.Lys94Arg)
c.2051A>G (p.Lys684Arg)
n.2066A>G
 dbSNP ExAC gnomAD v2
11g.68406746A>TCA381615790LRP5c.2024A>T (p.Lys675Met)
c.*630A>T (n.*630A>T)
c.281A>T (p.Lys94Met)
c.2051A>T (p.Lys684Met)
n.2066A>T
11g.68406747G>ACA475516444LRP5c.2025G>A (p.Lys675=)
c.*631G>A (n.*631G>A)
c.282G>A (p.Lys94=)
c.2052G>A (p.Lys684=)
n.2067G>A
11g.68406747G>CCA381615791LRP5c.2025G>C (p.Lys675Asn)
c.*631G>C (n.*631G>C)
c.282G>C (p.Lys94Asn)
c.2052G>C (p.Lys684Asn)
n.2067G>C
11g.68406747G>TCA381615792LRP5c.2025G>T (p.Lys675Asn)
c.*631G>T (n.*631G>T)
c.282G>T (p.Lys94Asn)
c.2052G>T (p.Lys684Asn)
n.2067G>T
11g.68406748G>ACA381615795LRP5c.2026G>A (p.Glu676Lys)
c.*632G>A (n.*632G>A)
c.283G>A (p.Glu95Lys)
c.2053G>A (p.Glu685Lys)
n.2068G>A
11g.68406748G>CCA381615793LRP5c.2026G>C (p.Glu676Gln)
c.*632G>C (n.*632G>C)
c.283G>C (p.Glu95Gln)
c.2053G>C (p.Glu685Gln)
n.2068G>C
11g.68406748G>TCA381615794LRP5c.2026G>T (p.Glu676Ter)
c.*632G>T (n.*632G>T)
c.283G>T (p.Glu95Ter)
c.2053G>T (p.Glu685Ter)
n.2068G>T
11g.68406749A>CCA381615796LRP5c.2027A>C (p.Glu676Ala)
c.*633A>C (n.*633A>C)
c.284A>C (p.Glu95Ala)
c.2054A>C (p.Glu685Ala)
n.2069A>C
11g.68406749A>GCA381615797LRP5c.2027A>G (p.Glu676Gly)
c.*633A>G (n.*633A>G)
c.284A>G (p.Glu95Gly)
c.2054A>G (p.Glu685Gly)
n.2069A>G
11g.68406749A>TCA381615798LRP5c.2027A>T (p.Glu676Val)
c.*633A>T (n.*633A>T)
c.284A>T (p.Glu95Val)
c.2054A>T (p.Glu685Val)
n.2069A>T
11g.68406750G>ACA475516445LRP5c.2028G>A (p.Glu676=)
c.*634G>A (n.*634G>A)
c.285G>A (p.Glu95=)
c.2055G>A (p.Glu685=)
n.2070G>A
 dbSNP gnomAD v4
11g.68406750G>CCA6149513LRP5c.2028G>C (p.Glu676Asp)
c.*634G>C (n.*634G>C)
c.285G>C (p.Glu95Asp)
c.2055G>C (p.Glu685Asp)
n.2070G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68406750G=CA1980654737LRP5c.2028G= (p.Glu676=)
c.*634G= (n.*634G=)
c.285G= (p.Glu95=)
c.2055G= (p.Glu685=)
n.2070G=
11g.68406750G>TCA381615799LRP5c.2028G>T (p.Glu676Asp)
c.*634G>T (n.*634G>T)
c.285G>T (p.Glu95Asp)
c.2055G>T (p.Glu685Asp)
n.2070G>T
11g.68406751G>ACA381615800LRP5c.2029G>A (p.Ala677Thr)
c.*635G>A (n.*635G>A)
c.286G>A (p.Ala96Thr)
c.2056G>A (p.Ala686Thr)
n.2071G>A
 ClinVar
11g.68406751G>CCA381615801LRP5c.2029G>C (p.Ala677Pro)
c.*635G>C (n.*635G>C)
c.286G>C (p.Ala96Pro)
c.2056G>C (p.Ala686Pro)
n.2071G>C
11g.68406751G=CA1980654738LRP5c.2029G= (p.Ala677=)
c.*635G= (n.*635G=)
c.286G= (p.Ala96=)
c.2056G= (p.Ala686=)
n.2071G=
11g.68406751G>TCA381615802LRP5c.2029G>T (p.Ala677Ser)
c.*635G>T (n.*635G>T)
c.286G>T (p.Ala96Ser)
c.2056G>T (p.Ala686Ser)
n.2071G>T
 dbSNP gnomAD v2 gnomAD v4
11g.68406752C>ACA381615803LRP5c.2030C>A (p.Ala677Asp)
c.*636C>A (n.*636C>A)
c.287C>A (p.Ala96Asp)
c.2057C>A (p.Ala686Asp)
n.2072C>A
11g.68406752C>GCA381615804LRP5c.2030C>G (p.Ala677Gly)
c.*636C>G (n.*636C>G)
c.287C>G (p.Ala96Gly)
c.2057C>G (p.Ala686Gly)
n.2072C>G
11g.68406752C>TCA381615805LRP5c.2030C>T (p.Ala677Val)
c.*636C>T (n.*636C>T)
c.287C>T (p.Ala96Val)
c.2057C>T (p.Ala686Val)
n.2072C>T
11g.68406753C>ACA475516452LRP5c.2031C>A (p.Ala677=)
c.*637C>A (n.*637C>A)
c.288C>A (p.Ala96=)
c.2058C>A (p.Ala686=)
n.2073C>A
11g.68406753C>GCA475516453LRP5c.2031C>G (p.Ala677=)
c.*637C>G (n.*637C>G)
c.288C>G (p.Ala96=)
c.2058C>G (p.Ala686=)
n.2073C>G
11g.68406753C>TCA475516454LRP5c.2031C>T (p.Ala677=)
c.*637C>T (n.*637C>T)
c.288C>T (p.Ala96=)
c.2058C>T (p.Ala686=)
n.2073C>T

Number of alleles fetched