Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68406648G>A | CA475516337 | LRP5 | c.1926G>A (p.Val642=) c.*532G>A (n.*532G>A) c.183G>A (p.Val61=) c.1953G>A (p.Val651=) n.1968G>A | |
11 | g.68406648G>C | CA475516338 | LRP5 | c.1926G>C (p.Val642=) c.*532G>C (n.*532G>C) c.183G>C (p.Val61=) c.1953G>C (p.Val651=) n.1968G>C | |
11 | g.68406648G>T | CA475516340 | LRP5 | c.1926G>T (p.Val642=) c.*532G>T (n.*532G>T) c.183G>T (p.Val61=) c.1953G>T (p.Val651=) n.1968G>T | |
11 | g.68406648_68406649insAG | CA2792540299 | LRP5 | c.1926_1927insAG (p.Pro643SerfsTer?) c.*532_*533insAG (n.*532_*533insAG) c.183_184insAG (p.Pro62SerfsTer?) c.1953_1954insAG (p.Pro652SerfsTer?) n.1968_1969insAG | |
11 | g.68406649C>A | CA381615582 | LRP5 | c.1927C>A (p.Pro643Thr) c.*533C>A (n.*533C>A) c.184C>A (p.Pro62Thr) c.1954C>A (p.Pro652Thr) n.1969C>A | |
11 | g.68406649C>G | CA381615583 | LRP5 | c.1927C>G (p.Pro643Ala) c.*533C>G (n.*533C>G) c.184C>G (p.Pro62Ala) c.1954C>G (p.Pro652Ala) n.1969C>G | |
11 | g.68406649C>T | CA381615584 | LRP5 | c.1927C>T (p.Pro643Ser) c.*533C>T (n.*533C>T) c.184C>T (p.Pro62Ser) c.1954C>T (p.Pro652Ser) n.1969C>T | gnomAD v4 |
11 | g.68406650C>A | CA381615587 | LRP5 | c.1928C>A (p.Pro643His) c.*534C>A (n.*534C>A) c.185C>A (p.Pro62His) c.1955C>A (p.Pro652His) n.1970C>A | |
11 | g.68406650C>G | CA381615586 | LRP5 | c.1928C>G (p.Pro643Arg) c.*534C>G (n.*534C>G) c.185C>G (p.Pro62Arg) c.1955C>G (p.Pro652Arg) n.1970C>G | |
11 | g.68406650C>T | CA381615585 | LRP5 | c.1928C>T (p.Pro643Leu) c.*534C>T (n.*534C>T) c.185C>T (p.Pro62Leu) c.1955C>T (p.Pro652Leu) n.1970C>T | |
11 | g.68406651T>A | CA475516342 | LRP5 | c.1929T>A (p.Pro643=) c.*535T>A (n.*535T>A) c.186T>A (p.Pro62=) c.1956T>A (p.Pro652=) n.1971T>A | |
11 | g.68406651T>C | CA475516343 | LRP5 | c.1929T>C (p.Pro643=) c.*535T>C (n.*535T>C) c.186T>C (p.Pro62=) c.1956T>C (p.Pro652=) n.1971T>C | |
11 | g.68406651T>G | CA475516341 | LRP5 | c.1929T>G (p.Pro643=) c.*535T>G (n.*535T>G) c.186T>G (p.Pro62=) c.1956T>G (p.Pro652=) n.1971T>G | |
11 | g.68406652G>A | CA381615588 | LRP5 | c.1930G>A (p.Glu644Lys) c.*536G>A (n.*536G>A) c.187G>A (p.Glu63Lys) c.1957G>A (p.Glu653Lys) n.1972G>A | |
11 | g.68406652G>C | CA381615590 | LRP5 | c.1930G>C (p.Glu644Gln) c.*536G>C (n.*536G>C) c.187G>C (p.Glu63Gln) c.1957G>C (p.Glu653Gln) n.1972G>C | |
11 | g.68406652G>T | CA381615589 | LRP5 | c.1930G>T (p.Glu644Ter) c.*536G>T (n.*536G>T) c.187G>T (p.Glu63Ter) c.1957G>T (p.Glu653Ter) n.1972G>T | |
11 | g.68406653A>C | CA381615591 | LRP5 | c.1931A>C (p.Glu644Ala) c.*537A>C (n.*537A>C) c.188A>C (p.Glu63Ala) c.1958A>C (p.Glu653Ala) n.1973A>C | |
11 | g.68406653A>G | CA381615593 | LRP5 | c.1931A>G (p.Glu644Gly) c.*537A>G (n.*537A>G) c.188A>G (p.Glu63Gly) c.1958A>G (p.Glu653Gly) n.1973A>G | |
11 | g.68406653A>T | CA381615592 | LRP5 | c.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 |
11 | g.68406654G>A | CA6149488 | LRP5 | c.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 |
11 | g.68406654G>C | CA381615594 | LRP5 | c.1932G>C (p.Glu644Asp) c.*538G>C (n.*538G>C) c.189G>C (p.Glu63Asp) c.1959G>C (p.Glu653Asp) n.1974G>C | |
11 | g.68406654G= | CA1980654695 | LRP5 | c.1932G= (p.Glu644=) c.*538G= (n.*538G=) c.189G= (p.Glu63=) c.1959G= (p.Glu653=) n.1974G= | |
11 | g.68406654G>T | CA381615595 | LRP5 | c.1932G>T (p.Glu644Asp) c.*538G>T (n.*538G>T) c.189G>T (p.Glu63Asp) c.1959G>T (p.Glu653Asp) n.1974G>T | COSMIC |
11 | g.68406655G>A | CA381615596 | LRP5 | c.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 |
11 | g.68406655G>C | CA381615597 | LRP5 | c.1933G>C (p.Ala645Pro) c.*539G>C (n.*539G>C) c.190G>C (p.Ala64Pro) c.1960G>C (p.Ala654Pro) n.1975G>C | |
11 | g.68406655G= | CA1980654696 | LRP5 | c.1933G= (p.Ala645=) c.*539G= (n.*539G=) c.190G= (p.Ala64=) c.1960G= (p.Ala654=) n.1975G= | |
11 | g.68406655G>T | CA381615598 | LRP5 | c.1933G>T (p.Ala645Ser) c.*539G>T (n.*539G>T) c.190G>T (p.Ala64Ser) c.1960G>T (p.Ala654Ser) n.1975G>T | |
11 | g.68406656C>A | CA381615599 | LRP5 | c.1934C>A (p.Ala645Asp) c.*540C>A (n.*540C>A) c.191C>A (p.Ala64Asp) c.1961C>A (p.Ala654Asp) n.1976C>A | |
11 | g.68406656C>G | CA381615600 | LRP5 | c.1934C>G (p.Ala645Gly) c.*540C>G (n.*540C>G) c.191C>G (p.Ala64Gly) c.1961C>G (p.Ala654Gly) n.1976C>G | |
11 | g.68406656C>T | CA381615601 | LRP5 | c.1934C>T (p.Ala645Val) c.*540C>T (n.*540C>T) c.191C>T (p.Ala64Val) c.1961C>T (p.Ala654Val) n.1976C>T | |
11 | g.68406657C>A | CA475516349 | LRP5 | c.1935C>A (p.Ala645=) c.*541C>A (n.*541C>A) c.192C>A (p.Ala64=) c.1962C>A (p.Ala654=) n.1977C>A | |
11 | g.68406657C>G | CA475516351 | LRP5 | c.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 |
11 | g.68406657C>T | CA475516350 | LRP5 | c.1935C>T (p.Ala645=) c.*541C>T (n.*541C>T) c.192C>T (p.Ala64=) c.1962C>T (p.Ala654=) n.1977C>T | |
11 | g.68406658T>A | CA381615602 | LRP5 | c.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 |
11 | g.68406658T>C | CA381615603 | LRP5 | c.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 |
11 | g.68406658T>G | CA381615604 | LRP5 | c.1936T>G (p.Phe646Val) c.*542T>G (n.*542T>G) c.193T>G (p.Phe65Val) c.1963T>G (p.Phe655Val) n.1978T>G | |
11 | g.68406659T>A | CA381615605 | LRP5 | c.1937T>A (p.Phe646Tyr) c.*543T>A (n.*543T>A) c.194T>A (p.Phe65Tyr) c.1964T>A (p.Phe655Tyr) n.1979T>A | |
11 | g.68406659T>C | CA381615607 | LRP5 | c.1937T>C (p.Phe646Ser) c.*543T>C (n.*543T>C) c.194T>C (p.Phe65Ser) c.1964T>C (p.Phe655Ser) n.1979T>C | |
11 | g.68406659T>G | CA381615606 | LRP5 | c.1937T>G (p.Phe646Cys) c.*543T>G (n.*543T>G) c.194T>G (p.Phe65Cys) c.1964T>G (p.Phe655Cys) n.1979T>G | |
11 | g.68406660C>A | CA381615608 | LRP5 | c.1938C>A (p.Phe646Leu) c.*544C>A (n.*544C>A) c.195C>A (p.Phe65Leu) c.1965C>A (p.Phe655Leu) n.1980C>A | dbSNP |
11 | g.68406660C= | CA1980654697 | LRP5 | c.1938C= (p.Phe646=) c.*544C= (n.*544C=) c.195C= (p.Phe65=) c.1965C= (p.Phe655=) n.1980C= | |
11 | g.68406660C>G | CA6149489 | LRP5 | c.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 |
11 | g.68406660C>T | CA475516352 | LRP5 | c.1938C>T (p.Phe646=) c.*544C>T (n.*544C>T) c.195C>T (p.Phe65=) c.1965C>T (p.Phe655=) n.1980C>T | |
11 | g.68406660dup | CA2614713168 | LRP5 | c.1938dup (p.Val648GlyfsTer17) c.*544dup (n.*544dup) c.195dup (p.Val67GlyfsTer17) c.1965dup (p.Val657GlyfsTer17) n.1980dup | gnomAD v4 |
11 | g.68406661T>A | CA381615609 | LRP5 | c.1939T>A (p.Leu647Met) c.*545T>A (n.*545T>A) c.196T>A (p.Leu66Met) c.1966T>A (p.Leu656Met) n.1981T>A | |
11 | g.68406661T>C | CA475516354 | LRP5 | c.1939T>C (p.Leu647=) c.*545T>C (n.*545T>C) c.196T>C (p.Leu66=) c.1966T>C (p.Leu656=) n.1981T>C | |
11 | g.68406661T>G | CA381615610 | LRP5 | c.1939T>G (p.Leu647Val) c.*545T>G (n.*545T>G) c.196T>G (p.Leu66Val) c.1966T>G (p.Leu656Val) n.1981T>G | |
11 | g.68406662T>A | CA381615611 | LRP5 | c.1940T>A (p.Leu647Ter) c.*546T>A (n.*546T>A) c.197T>A (p.Leu66Ter) c.1967T>A (p.Leu656Ter) n.1982T>A | |
11 | g.68406662T>C | CA381615612 | LRP5 | c.1940T>C (p.Leu647Ser) c.*546T>C (n.*546T>C) c.197T>C (p.Leu66Ser) c.1967T>C (p.Leu656Ser) n.1982T>C | |
11 | g.68406662T>G | CA381615613 | LRP5 | c.1940T>G (p.Leu647Trp) c.*546T>G (n.*546T>G) c.197T>G (p.Leu66Trp) c.1967T>G (p.Leu656Trp) n.1982T>G | |
11 | g.68406663G>A | CA475516357 | LRP5 | c.1941G>A (p.Leu647=) c.*547G>A (n.*547G>A) c.198G>A (p.Leu66=) c.1968G>A (p.Leu656=) n.1983G>A | |
11 | g.68406663G>C | CA381615614 | LRP5 | c.1941G>C (p.Leu647Phe) c.*547G>C (n.*547G>C) c.198G>C (p.Leu66Phe) c.1968G>C (p.Leu656Phe) n.1983G>C | |
11 | g.68406663G>T | CA381615615 | LRP5 | c.1941G>T (p.Leu647Phe) c.*547G>T (n.*547G>T) c.198G>T (p.Leu66Phe) c.1968G>T (p.Leu656Phe) n.1983G>T | |
11 | g.68406664G>A | CA381615618 | LRP5 | c.1942G>A (p.Val648Ile) c.*548G>A (n.*548G>A) c.199G>A (p.Val67Ile) c.1969G>A (p.Val657Ile) n.1984G>A | |
11 | g.68406664G>C | CA381615617 | LRP5 | c.1942G>C (p.Val648Leu) c.*548G>C (n.*548G>C) c.199G>C (p.Val67Leu) c.1969G>C (p.Val657Leu) n.1984G>C | |
11 | g.68406664G>T | CA381615616 | LRP5 | c.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 |
11 | g.68406665T>A | CA381615619 | LRP5 | c.1943T>A (p.Val648Asp) c.*549T>A (n.*549T>A) c.200T>A (p.Val67Asp) c.1970T>A (p.Val657Asp) n.1985T>A | |
11 | g.68406665T>C | CA381615620 | LRP5 | c.1943T>C (p.Val648Ala) c.*549T>C (n.*549T>C) c.200T>C (p.Val67Ala) c.1970T>C (p.Val657Ala) n.1985T>C | |
11 | g.68406665T>G | CA381615621 | LRP5 | c.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 |
11 | g.68406666C>A | CA475516359 | LRP5 | c.1944C>A (p.Val648=) c.*550C>A (n.*550C>A) c.201C>A (p.Val67=) c.1971C>A (p.Val657=) n.1986C>A | |
11 | g.68406666C>G | CA475516360 | LRP5 | c.1944C>G (p.Val648=) c.*550C>G (n.*550C>G) c.201C>G (p.Val67=) c.1971C>G (p.Val657=) n.1986C>G | |
11 | g.68406666C>T | CA475516361 | LRP5 | c.1944C>T (p.Val648=) c.*550C>T (n.*550C>T) c.201C>T (p.Val67=) c.1971C>T (p.Val657=) n.1986C>T | |
11 | g.68406667T>A | CA381615622 | LRP5 | c.1945T>A (p.Phe649Ile) c.*551T>A (n.*551T>A) c.202T>A (p.Phe68Ile) c.1972T>A (p.Phe658Ile) n.1987T>A | |
11 | g.68406667T>C | CA381615623 | LRP5 | c.1945T>C (p.Phe649Leu) c.*551T>C (n.*551T>C) c.202T>C (p.Phe68Leu) c.1972T>C (p.Phe658Leu) n.1987T>C | |
11 | g.68406667T>G | CA381615624 | LRP5 | c.1945T>G (p.Phe649Val) c.*551T>G (n.*551T>G) c.202T>G (p.Phe68Val) c.1972T>G (p.Phe658Val) n.1987T>G | |
11 | g.68406668T>A | CA381615625 | LRP5 | c.1946T>A (p.Phe649Tyr) c.*552T>A (n.*552T>A) c.203T>A (p.Phe68Tyr) c.1973T>A (p.Phe658Tyr) n.1988T>A | |
11 | g.68406668T>C | CA381615626 | LRP5 | c.1946T>C (p.Phe649Ser) c.*552T>C (n.*552T>C) c.203T>C (p.Phe68Ser) c.1973T>C (p.Phe658Ser) n.1988T>C | |
11 | g.68406668T>G | CA381615627 | LRP5 | c.1946T>G (p.Phe649Cys) c.*552T>G (n.*552T>G) c.203T>G (p.Phe68Cys) c.1973T>G (p.Phe658Cys) n.1988T>G | |
11 | g.68406669C>A | CA381615628 | LRP5 | c.1947C>A (p.Phe649Leu) c.*553C>A (n.*553C>A) c.204C>A (p.Phe68Leu) c.1974C>A (p.Phe658Leu) n.1989C>A | |
11 | g.68406669C>G | CA381615629 | LRP5 | c.1947C>G (p.Phe649Leu) c.*553C>G (n.*553C>G) c.204C>G (p.Phe68Leu) c.1974C>G (p.Phe658Leu) n.1989C>G | |
11 | g.68406669C>T | CA475516362 | LRP5 | c.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 |
11 | g.68406670A= | CA1980654698 | LRP5 | c.1948A= (p.Thr650=) c.*554A= (n.*554A=) c.205A= (p.Thr69=) c.1975A= (p.Thr659=) n.1990A= | |
11 | g.68406670A>C | CA381615631 | LRP5 | c.1948A>C (p.Thr650Pro) c.*554A>C (n.*554A>C) c.205A>C (p.Thr69Pro) c.1975A>C (p.Thr659Pro) n.1990A>C | dbSNP |
11 | g.68406670A>G | CA6149490 | LRP5 | c.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 |
11 | g.68406670A>T | CA381615630 | LRP5 | c.1948A>T (p.Thr650Ser) c.*554A>T (n.*554A>T) c.205A>T (p.Thr69Ser) c.1975A>T (p.Thr659Ser) n.1990A>T | |
11 | g.68406671C>A | CA381615632 | LRP5 | c.1949C>A (p.Thr650Asn) c.*555C>A (n.*555C>A) c.206C>A (p.Thr69Asn) c.1976C>A (p.Thr659Asn) n.1991C>A | |
11 | g.68406671C>G | CA381615633 | LRP5 | c.1949C>G (p.Thr650Ser) c.*555C>G (n.*555C>G) c.206C>G (p.Thr69Ser) c.1976C>G (p.Thr659Ser) n.1991C>G | |
11 | g.68406671C>T | CA381615634 | LRP5 | c.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 |
11 | g.68406672C>A | CA475516366 | LRP5 | c.1950C>A (p.Thr650=) c.*556C>A (n.*556C>A) c.207C>A (p.Thr69=) c.1977C>A (p.Thr659=) n.1992C>A | |
11 | g.68406672C>G | CA475516368 | LRP5 | c.1950C>G (p.Thr650=) c.*556C>G (n.*556C>G) c.207C>G (p.Thr69=) c.1977C>G (p.Thr659=) n.1992C>G | |
11 | g.68406672C>T | CA475516367 | LRP5 | c.1950C>T (p.Thr650=) c.*556C>T (n.*556C>T) c.207C>T (p.Thr69=) c.1977C>T (p.Thr659=) n.1992C>T | |
11 | g.68406673A>C | CA381615635 | LRP5 | c.1951A>C (p.Ser651Arg) c.*557A>C (n.*557A>C) c.208A>C (p.Ser70Arg) c.1978A>C (p.Ser660Arg) n.1993A>C | |
11 | g.68406673A>G | CA381615636 | LRP5 | c.1951A>G (p.Ser651Gly) c.*557A>G (n.*557A>G) c.208A>G (p.Ser70Gly) c.1978A>G (p.Ser660Gly) n.1993A>G | |
11 | g.68406673A>T | CA381615637 | LRP5 | c.1951A>T (p.Ser651Cys) c.*557A>T (n.*557A>T) c.208A>T (p.Ser70Cys) c.1978A>T (p.Ser660Cys) n.1993A>T | |
11 | g.68406674G>A | CA6149491 | LRP5 | c.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 |
11 | g.68406674G>C | CA381615638 | LRP5 | c.1952G>C (p.Ser651Thr) c.*558G>C (n.*558G>C) c.209G>C (p.Ser70Thr) c.1979G>C (p.Ser660Thr) n.1994G>C | |
11 | g.68406674G= | CA1980654699 | LRP5 | c.1952G= (p.Ser651=) c.*558G= (n.*558G=) c.209G= (p.Ser70=) c.1979G= (p.Ser660=) n.1994G= | |
11 | g.68406674G>T | CA381615639 | LRP5 | c.1952G>T (p.Ser651Ile) c.*558G>T (n.*558G>T) c.209G>T (p.Ser70Ile) c.1979G>T (p.Ser660Ile) n.1994G>T | |
11 | g.68406675C>A | CA381615640 | LRP5 | c.1953C>A (p.Ser651Arg) c.*559C>A (n.*559C>A) c.210C>A (p.Ser70Arg) c.1980C>A (p.Ser660Arg) n.1995C>A | |
11 | g.68406675C>G | CA381615641 | LRP5 | c.1953C>G (p.Ser651Arg) c.*559C>G (n.*559C>G) c.210C>G (p.Ser70Arg) c.1980C>G (p.Ser660Arg) n.1995C>G | |
11 | g.68406675C>T | CA475516372 | LRP5 | c.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 |
11 | g.68406676A>C | CA475516373 | LRP5 | c.1954A>C (p.Arg652=) c.*560A>C (n.*560A>C) c.211A>C (p.Arg71=) c.1981A>C (p.Arg661=) n.1996A>C | |
11 | g.68406676A>G | CA381615642 | LRP5 | c.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 |
11 | g.68406676A>T | CA381615643 | LRP5 | c.1954A>T (p.Arg652Ter) c.*560A>T (n.*560A>T) c.211A>T (p.Arg71Ter) c.1981A>T (p.Arg661Ter) n.1996A>T | |
11 | g.68406677G>A | CA381615646 | LRP5 | c.1955G>A (p.Arg652Lys) c.*561G>A (n.*561G>A) c.212G>A (p.Arg71Lys) c.1982G>A (p.Arg661Lys) n.1997G>A | |
11 | g.68406677G>C | CA381615645 | LRP5 | c.1955G>C (p.Arg652Thr) c.*561G>C (n.*561G>C) c.212G>C (p.Arg71Thr) c.1982G>C (p.Arg661Thr) n.1997G>C | |
11 | g.68406677G>T | CA381615644 | LRP5 | c.1955G>T (p.Arg652Ile) c.*561G>T (n.*561G>T) c.212G>T (p.Arg71Ile) c.1982G>T (p.Arg661Ile) n.1997G>T | |
11 | g.68406678A= | CA1980654700 | LRP5 | c.1956A= (p.Arg652=) c.*562A= (n.*562A=) c.213A= (p.Arg71=) c.1983A= (p.Arg661=) n.1998A= | |
11 | g.68406678A>C | CA381615647 | LRP5 | c.1956A>C (p.Arg652Ser) c.*562A>C (n.*562A>C) c.213A>C (p.Arg71Ser) c.1983A>C (p.Arg661Ser) n.1998A>C | |
11 | g.68406678A>G | CA6149492 | LRP5 | c.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 |
11 | g.68406678A>T | CA381615648 | LRP5 | c.1956A>T (p.Arg652Ser) c.*562A>T (n.*562A>T) c.213A>T (p.Arg71Ser) c.1983A>T (p.Arg661Ser) n.1998A>T | |
11 | g.68406679G>A | CA381615649 | LRP5 | c.1957G>A (p.Ala653Thr) c.*563G>A (n.*563G>A) c.214G>A (p.Ala72Thr) c.1984G>A (p.Ala662Thr) n.1999G>A | |
11 | g.68406679G>C | CA381615650 | LRP5 | c.1957G>C (p.Ala653Pro) c.*563G>C (n.*563G>C) c.214G>C (p.Ala72Pro) c.1984G>C (p.Ala662Pro) n.1999G>C | |
11 | g.68406679G>T | CA381615651 | LRP5 | c.1957G>T (p.Ala653Ser) c.*563G>T (n.*563G>T) c.214G>T (p.Ala72Ser) c.1984G>T (p.Ala662Ser) n.1999G>T | |
11 | g.68406680C>A | CA381615652 | LRP5 | c.1958C>A (p.Ala653Asp) c.*564C>A (n.*564C>A) c.215C>A (p.Ala72Asp) c.1985C>A (p.Ala662Asp) n.2000C>A | |
11 | g.68406680C= | CA1980654701 | LRP5 | c.1958C= (p.Ala653=) c.*564C= (n.*564C=) c.215C= (p.Ala72=) c.1985C= (p.Ala662=) n.2000C= | |
11 | g.68406680C>G | CA381615653 | LRP5 | c.1958C>G (p.Ala653Gly) c.*564C>G (n.*564C>G) c.215C>G (p.Ala72Gly) c.1985C>G (p.Ala662Gly) n.2000C>G | |
11 | g.68406680C>T | CA381615654 | LRP5 | c.1958C>T (p.Ala653Val) c.*564C>T (n.*564C>T) c.215C>T (p.Ala72Val) c.1985C>T (p.Ala662Val) n.2000C>T | dbSNP |
11 | g.68406681C>A | CA6149493 | LRP5 | c.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 |
11 | g.68406681C= | CA1980654702 | LRP5 | c.1959C= (p.Ala653=) c.*565C= (n.*565C=) c.216C= (p.Ala72=) c.1986C= (p.Ala662=) n.2001C= | |
11 | g.68406681C>G | CA475516377 | LRP5 | c.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 |
11 | g.68406681C>T | CA6149494 | LRP5 | c.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 |
11 | g.68406682G>A | CA6149496 | LRP5 | c.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 |
11 | g.68406682G>C | CA381615655 | LRP5 | c.1960G>C (p.Ala654Pro) c.*566G>C (n.*566G>C) c.217G>C (p.Ala73Pro) c.1987G>C (p.Ala663Pro) n.2002G>C | |
11 | g.68406682G= | CA1980654703 | LRP5 | c.1960G= (p.Ala654=) c.*566G= (n.*566G=) c.217G= (p.Ala73=) c.1987G= (p.Ala663=) n.2002G= | |
11 | g.68406682G>T | CA6149495 | LRP5 | c.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 |
11 | g.68406683C>A | CA381615656 | LRP5 | c.1961C>A (p.Ala654Asp) c.*567C>A (n.*567C>A) c.218C>A (p.Ala73Asp) c.1988C>A (p.Ala663Asp) n.2003C>A | |
11 | g.68406683C= | CA1980654704 | LRP5 | c.1961C= (p.Ala654=) c.*567C= (n.*567C=) c.218C= (p.Ala73=) c.1988C= (p.Ala663=) n.2003C= | |
11 | g.68406683C>G | CA381615657 | LRP5 | c.1961C>G (p.Ala654Gly) c.*567C>G (n.*567C>G) c.218C>G (p.Ala73Gly) c.1988C>G (p.Ala663Gly) n.2003C>G | |
11 | g.68406683C>T | CA381615658 | LRP5 | c.1961C>T (p.Ala654Val) c.*567C>T (n.*567C>T) c.218C>T (p.Ala73Val) c.1988C>T (p.Ala663Val) n.2003C>T | dbSNP |
11 | g.68406684C>A | CA475516382 | LRP5 | c.1962C>A (p.Ala654=) c.*568C>A (n.*568C>A) c.219C>A (p.Ala73=) c.1989C>A (p.Ala663=) n.2004C>A | |
11 | g.68406684C>G | CA475516380 | LRP5 | c.1962C>G (p.Ala654=) c.*568C>G (n.*568C>G) c.219C>G (p.Ala73=) c.1989C>G (p.Ala663=) n.2004C>G | |
11 | g.68406684C>T | CA475516381 | LRP5 | c.1962C>T (p.Ala654=) c.*568C>T (n.*568C>T) c.219C>T (p.Ala73=) c.1989C>T (p.Ala663=) n.2004C>T | |
11 | g.68406685A= | CA1980654705 | LRP5 | c.1963A= (p.Ile655=) c.*569A= (n.*569A=) c.220A= (p.Ile74=) c.1990A= (p.Ile664=) n.2005A= | |
11 | g.68406685A>C | CA381615659 | LRP5 | c.1963A>C (p.Ile655Leu) c.*569A>C (n.*569A>C) c.220A>C (p.Ile74Leu) c.1990A>C (p.Ile664Leu) n.2005A>C | |
11 | g.68406685A>G | CA6149497 | LRP5 | c.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 |
11 | g.68406685A>T | CA381615660 | LRP5 | c.1963A>T (p.Ile655Phe) c.*569A>T (n.*569A>T) c.220A>T (p.Ile74Phe) c.1990A>T (p.Ile664Phe) n.2005A>T | |
11 | g.68406686T>A | CA381615661 | LRP5 | c.1964T>A (p.Ile655Asn) c.*570T>A (n.*570T>A) c.221T>A (p.Ile74Asn) c.1991T>A (p.Ile664Asn) n.2006T>A | |
11 | g.68406686T>C | CA381615662 | LRP5 | c.1964T>C (p.Ile655Thr) c.*570T>C (n.*570T>C) c.221T>C (p.Ile74Thr) c.1991T>C (p.Ile664Thr) n.2006T>C | |
11 | g.68406686T>G | CA381615663 | LRP5 | c.1964T>G (p.Ile655Ser) c.*570T>G (n.*570T>G) c.221T>G (p.Ile74Ser) c.1991T>G (p.Ile664Ser) n.2006T>G | |
11 | g.68406687C>A | CA475516384 | LRP5 | c.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 |
11 | g.68406687C>G | CA381615664 | LRP5 | c.1965C>G (p.Ile655Met) c.*571C>G (n.*571C>G) c.222C>G (p.Ile74Met) c.1992C>G (p.Ile664Met) n.2007C>G | |
11 | g.68406687C>T | CA475516385 | LRP5 | c.1965C>T (p.Ile655=) c.*571C>T (n.*571C>T) c.222C>T (p.Ile74=) c.1992C>T (p.Ile664=) n.2007C>T | |
11 | g.68406688del | CA2695214918 | LRP5 | c.1966del (p.His656ThrfsTer?) c.*572del (n.*572del) c.223del (p.His75ThrfsTer?) c.1993del (p.His665ThrfsTer?) n.2008del | |
11 | g.68406688C>A | CA381615665 | LRP5 | c.1966C>A (p.His656Asn) c.*572C>A (n.*572C>A) c.223C>A (p.His75Asn) c.1993C>A (p.His665Asn) n.2008C>A | |
11 | g.68406688C>G | CA381615666 | LRP5 | c.1966C>G (p.His656Asp) c.*572C>G (n.*572C>G) c.223C>G (p.His75Asp) c.1993C>G (p.His665Asp) n.2008C>G | |
11 | g.68406688C>T | CA381615667 | LRP5 | c.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 |
11 | g.68406689A>C | CA381615668 | LRP5 | c.1967A>C (p.His656Pro) c.*573A>C (n.*573A>C) c.224A>C (p.His75Pro) c.1994A>C (p.His665Pro) n.2009A>C | |
11 | g.68406689A>G | CA381615669 | LRP5 | c.1967A>G (p.His656Arg) c.*573A>G (n.*573A>G) c.224A>G (p.His75Arg) c.1994A>G (p.His665Arg) n.2009A>G | |
11 | g.68406689A>T | CA381615670 | LRP5 | c.1967A>T (p.His656Leu) c.*573A>T (n.*573A>T) c.224A>T (p.His75Leu) c.1994A>T (p.His665Leu) n.2009A>T | |
11 | g.68406690C>A | CA381615672 | LRP5 | c.1968C>A (p.His656Gln) c.*574C>A (n.*574C>A) c.225C>A (p.His75Gln) c.1995C>A (p.His665Gln) n.2010C>A | |
11 | g.68406690C= | CA1980654706 | LRP5 | c.1968C= (p.His656=) c.*574C= (n.*574C=) c.225C= (p.His75=) c.1995C= (p.His665=) n.2010C= | |
11 | g.68406690C>G | CA381615671 | LRP5 | c.1968C>G (p.His656Gln) c.*574C>G (n.*574C>G) c.225C>G (p.His75Gln) c.1995C>G (p.His665Gln) n.2010C>G | |
11 | g.68406690C>T | CA203741 | LRP5 | c.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 |
11 | g.68406691A>C | CA475516387 | LRP5 | c.1969A>C (p.Arg657=) c.*575A>C (n.*575A>C) c.226A>C (p.Arg76=) c.1996A>C (p.Arg666=) n.2011A>C | |
11 | g.68406691A>G | CA381615673 | LRP5 | c.1969A>G (p.Arg657Gly) c.*575A>G (n.*575A>G) c.226A>G (p.Arg76Gly) c.1996A>G (p.Arg666Gly) n.2011A>G | |
11 | g.68406691A>T | CA381615674 | LRP5 | c.1969A>T (p.Arg657Trp) c.*575A>T (n.*575A>T) c.226A>T (p.Arg76Trp) c.1996A>T (p.Arg666Trp) n.2011A>T | |
11 | g.68406692G>A | CA381615675 | LRP5 | c.1970G>A (p.Arg657Lys) c.*576G>A (n.*576G>A) c.227G>A (p.Arg76Lys) c.1997G>A (p.Arg666Lys) n.2012G>A | |
11 | g.68406692G>C | CA381615676 | LRP5 | c.1970G>C (p.Arg657Thr) c.*576G>C (n.*576G>C) c.227G>C (p.Arg76Thr) c.1997G>C (p.Arg666Thr) n.2012G>C | |
11 | g.68406692G>T | CA381615677 | LRP5 | c.1970G>T (p.Arg657Met) c.*576G>T (n.*576G>T) c.227G>T (p.Arg76Met) c.1997G>T (p.Arg666Met) n.2012G>T | |
11 | g.68406693G>A | CA475516388 | LRP5 | c.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 |
11 | g.68406693G>C | CA381615678 | LRP5 | c.1971G>C (p.Arg657Ser) c.*577G>C (n.*577G>C) c.228G>C (p.Arg76Ser) c.1998G>C (p.Arg666Ser) n.2013G>C | |
11 | g.68406693G= | CA1980654707 | LRP5 | c.1971G= (p.Arg657=) c.*577G= (n.*577G=) c.228G= (p.Arg76=) c.1998G= (p.Arg666=) n.2013G= | |
11 | g.68406693G>T | CA381615679 | LRP5 | c.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 |
11 | g.68406694A>C | CA381615680 | LRP5 | c.1972A>C (p.Ile658Leu) c.*578A>C (n.*578A>C) c.229A>C (p.Ile77Leu) c.1999A>C (p.Ile667Leu) n.2014A>C | |
11 | g.68406694A>G | CA381615681 | LRP5 | c.1972A>G (p.Ile658Val) c.*578A>G (n.*578A>G) c.229A>G (p.Ile77Val) c.1999A>G (p.Ile667Val) n.2014A>G | |
11 | g.68406694A>T | CA381615682 | LRP5 | c.1972A>T (p.Ile658Phe) c.*578A>T (n.*578A>T) c.229A>T (p.Ile77Phe) c.1999A>T (p.Ile667Phe) n.2014A>T | |
11 | g.68406695T>A | CA381615683 | LRP5 | c.1973T>A (p.Ile658Asn) c.*579T>A (n.*579T>A) c.230T>A (p.Ile77Asn) c.2000T>A (p.Ile667Asn) n.2015T>A | |
11 | g.68406695T>C | CA381615684 | LRP5 | c.1973T>C (p.Ile658Thr) c.*579T>C (n.*579T>C) c.230T>C (p.Ile77Thr) c.2000T>C (p.Ile667Thr) n.2015T>C | |
11 | g.68406695T>G | CA381615685 | LRP5 | c.1973T>G (p.Ile658Ser) c.*579T>G (n.*579T>G) c.230T>G (p.Ile77Ser) c.2000T>G (p.Ile667Ser) n.2015T>G | |
11 | g.68406696C>A | CA6149498 | LRP5 | c.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 |
11 | g.68406696C= | CA1980654708 | LRP5 | c.1974C= (p.Ile658=) c.*580C= (n.*580C=) c.231C= (p.Ile77=) c.2001C= (p.Ile667=) n.2016C= | |
11 | g.68406696C>G | CA381615686 | LRP5 | c.1974C>G (p.Ile658Met) c.*580C>G (n.*580C>G) c.231C>G (p.Ile77Met) c.2001C>G (p.Ile667Met) n.2016C>G | |
11 | g.68406696C>T | CA475516392 | LRP5 | c.1974C>T (p.Ile658=) c.*580C>T (n.*580C>T) c.231C>T (p.Ile77=) c.2001C>T (p.Ile667=) n.2016C>T | |
11 | g.68406697T>A | CA381615687 | LRP5 | c.1975T>A (p.Ser659Thr) c.*581T>A (n.*581T>A) c.232T>A (p.Ser78Thr) c.2002T>A (p.Ser668Thr) n.2017T>A | COSMIC |
11 | g.68406697T>C | CA381615688 | LRP5 | c.1975T>C (p.Ser659Pro) c.*581T>C (n.*581T>C) c.232T>C (p.Ser78Pro) c.2002T>C (p.Ser668Pro) n.2017T>C | |
11 | g.68406697T>G | CA381615689 | LRP5 | c.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 |
11 | g.68406698C>A | CA381615690 | LRP5 | c.1976C>A (p.Ser659Tyr) c.*582C>A (n.*582C>A) c.233C>A (p.Ser78Tyr) c.2003C>A (p.Ser668Tyr) n.2018C>A | |
11 | g.68406698C= | CA1980654709 | LRP5 | c.1976C= (p.Ser659=) c.*582C= (n.*582C=) c.233C= (p.Ser78=) c.2003C= (p.Ser668=) n.2018C= | |
11 | g.68406698C>G | CA381615691 | LRP5 | c.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 |
11 | g.68406698C>T | CA381615692 | LRP5 | c.1976C>T (p.Ser659Phe) c.*582C>T (n.*582C>T) c.233C>T (p.Ser78Phe) c.2003C>T (p.Ser668Phe) n.2018C>T | |
11 | g.68406699C>A | CA475516396 | LRP5 | c.1977C>A (p.Ser659=) c.*583C>A (n.*583C>A) c.234C>A (p.Ser78=) c.2004C>A (p.Ser668=) n.2019C>A | |
11 | g.68406699C= | CA1980654710 | LRP5 | c.1977C= (p.Ser659=) c.*583C= (n.*583C=) c.234C= (p.Ser78=) c.2004C= (p.Ser668=) n.2019C= | |
11 | g.68406699C>G | CA475516397 | LRP5 | c.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 |
11 | g.68406699C>T | CA475516398 | LRP5 | c.1977C>T (p.Ser659=) c.*583C>T (n.*583C>T) c.234C>T (p.Ser78=) c.2004C>T (p.Ser668=) n.2019C>T | |
11 | g.68406700C>A | CA381615693 | LRP5 | c.1978C>A (p.Leu660Ile) c.*584C>A (n.*584C>A) c.235C>A (p.Leu79Ile) c.2005C>A (p.Leu669Ile) n.2020C>A | |
11 | g.68406700C>G | CA381615694 | LRP5 | c.1978C>G (p.Leu660Val) c.*584C>G (n.*584C>G) c.235C>G (p.Leu79Val) c.2005C>G (p.Leu669Val) n.2020C>G | |
11 | g.68406700C>T | CA381615695 | LRP5 | c.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 |
11 | g.68406701T>A | CA381615696 | LRP5 | c.1979T>A (p.Leu660His) c.*585T>A (n.*585T>A) c.236T>A (p.Leu79His) c.2006T>A (p.Leu669His) n.2021T>A | |
11 | g.68406701T>C | CA381615697 | LRP5 | c.1979T>C (p.Leu660Pro) c.*585T>C (n.*585T>C) c.236T>C (p.Leu79Pro) c.2006T>C (p.Leu669Pro) n.2021T>C | |
11 | g.68406701T>G | CA381615698 | LRP5 | c.1979T>G (p.Leu660Arg) c.*585T>G (n.*585T>G) c.236T>G (p.Leu79Arg) c.2006T>G (p.Leu669Arg) n.2021T>G | |
11 | g.68406702C>A | CA475516399 | LRP5 | c.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 |
11 | g.68406702C= | CA1980654711 | LRP5 | c.1980C= (p.Leu660=) c.*586C= (n.*586C=) c.237C= (p.Leu79=) c.2007C= (p.Leu669=) n.2022C= | |
11 | g.68406702C>G | CA475516400 | LRP5 | c.1980C>G (p.Leu660=) c.*586C>G (n.*586C>G) c.237C>G (p.Leu79=) c.2007C>G (p.Leu669=) n.2022C>G | |
11 | g.68406702C>T | CA6149499 | LRP5 | c.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 |
11 | g.68406703G>A | CA224268348 | LRP5 | c.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 |
11 | g.68406703G>C | CA381615700 | LRP5 | c.1981G>C (p.Glu661Gln) c.*587G>C (n.*587G>C) c.238G>C (p.Glu80Gln) c.2008G>C (p.Glu670Gln) n.2023G>C | ClinVar |
11 | g.68406703G= | CA1980654712 | LRP5 | c.1981G= (p.Glu661=) c.*587G= (n.*587G=) c.238G= (p.Glu80=) c.2008G= (p.Glu670=) n.2023G= | |
11 | g.68406703G>T | CA381615699 | LRP5 | c.1981G>T (p.Glu661Ter) c.*587G>T (n.*587G>T) c.238G>T (p.Glu80Ter) c.2008G>T (p.Glu670Ter) n.2023G>T | |
11 | g.68406704A>C | CA381615701 | LRP5 | c.1982A>C (p.Glu661Ala) c.*588A>C (n.*588A>C) c.239A>C (p.Glu80Ala) c.2009A>C (p.Glu670Ala) n.2024A>C | |
11 | g.68406704A>G | CA381615703 | LRP5 | c.1982A>G (p.Glu661Gly) c.*588A>G (n.*588A>G) c.239A>G (p.Glu80Gly) c.2009A>G (p.Glu670Gly) n.2024A>G | |
11 | g.68406704A>T | CA381615702 | LRP5 | c.1982A>T (p.Glu661Val) c.*588A>T (n.*588A>T) c.239A>T (p.Glu80Val) c.2009A>T (p.Glu670Val) n.2024A>T | |
11 | g.68406705G>A | CA475516403 | LRP5 | c.1983G>A (p.Glu661=) c.*589G>A (n.*589G>A) c.240G>A (p.Glu80=) c.2010G>A (p.Glu670=) n.2025G>A | |
11 | g.68406705G>C | CA381615704 | LRP5 | c.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 |
11 | g.68406705G>T | CA381615705 | LRP5 | c.1983G>T (p.Glu661Asp) c.*589G>T (n.*589G>T) c.240G>T (p.Glu80Asp) c.2010G>T (p.Glu670Asp) n.2025G>T | |
11 | g.68406706A>C | CA381615706 | LRP5 | c.1984A>C (p.Thr662Pro) c.*590A>C (n.*590A>C) c.241A>C (p.Thr81Pro) c.2011A>C (p.Thr671Pro) n.2026A>C | |
11 | g.68406706A>G | CA381615707 | LRP5 | c.1984A>G (p.Thr662Ala) c.*590A>G (n.*590A>G) c.241A>G (p.Thr81Ala) c.2011A>G (p.Thr671Ala) n.2026A>G | |
11 | g.68406706A>T | CA381615708 | LRP5 | c.1984A>T (p.Thr662Ser) c.*590A>T (n.*590A>T) c.241A>T (p.Thr81Ser) c.2011A>T (p.Thr671Ser) n.2026A>T | |
11 | g.68406707C>A | CA381615709 | LRP5 | c.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 |
11 | g.68406707C= | CA1980654713 | LRP5 | c.1985C= (p.Thr662=) c.*591C= (n.*591C=) c.242C= (p.Thr81=) c.2012C= (p.Thr671=) n.2027C= | |
11 | g.68406707C>G | CA381615710 | LRP5 | c.1985C>G (p.Thr662Ser) c.*591C>G (n.*591C>G) c.242C>G (p.Thr81Ser) c.2012C>G (p.Thr671Ser) n.2027C>G | |
11 | g.68406707C>T | CA381615711 | LRP5 | c.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 |
11 | g.68406708C>A | CA475516405 | LRP5 | c.1986C>A (p.Thr662=) c.*592C>A (n.*592C>A) c.243C>A (p.Thr81=) c.2013C>A (p.Thr671=) n.2028C>A | |
11 | g.68406708C>G | CA475516406 | LRP5 | c.1986C>G (p.Thr662=) c.*592C>G (n.*592C>G) c.243C>G (p.Thr81=) c.2013C>G (p.Thr671=) n.2028C>G | |
11 | g.68406708C>T | CA475516407 | LRP5 | c.1986C>T (p.Thr662=) c.*592C>T (n.*592C>T) c.243C>T (p.Thr81=) c.2013C>T (p.Thr671=) n.2028C>T | |
11 | g.68406709A>C | CA381615712 | LRP5 | c.1987A>C (p.Asn663His) c.*593A>C (n.*593A>C) c.244A>C (p.Asn82His) c.2014A>C (p.Asn672His) n.2029A>C | |
11 | g.68406709A>G | CA381615713 | LRP5 | c.1987A>G (p.Asn663Asp) c.*593A>G (n.*593A>G) c.244A>G (p.Asn82Asp) c.2014A>G (p.Asn672Asp) n.2029A>G | |
11 | g.68406709A>T | CA381615714 | LRP5 | c.1987A>T (p.Asn663Tyr) c.*593A>T (n.*593A>T) c.244A>T (p.Asn82Tyr) c.2014A>T (p.Asn672Tyr) n.2029A>T | |
11 | g.68406710del | CA2614713169 | LRP5 | c.1988del (p.Asn663IlefsTer?) c.*594del (n.*594del) c.245del (p.Asn82IlefsTer?) c.2015del (p.Asn672IlefsTer?) n.2030del | gnomAD v4 |
11 | g.68406710A= | CA1980654714 | LRP5 | c.1988A= (p.Asn663=) c.*594A= (n.*594A=) c.245A= (p.Asn82=) c.2015A= (p.Asn672=) n.2030A= | |
11 | g.68406710A>C | CA381615715 | LRP5 | c.1988A>C (p.Asn663Thr) c.*594A>C (n.*594A>C) c.245A>C (p.Asn82Thr) c.2015A>C (p.Asn672Thr) n.2030A>C | |
11 | g.68406710A>G | CA381615716 | LRP5 | c.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 |
11 | g.68406710A>T | CA381615717 | LRP5 | c.1988A>T (p.Asn663Ile) c.*594A>T (n.*594A>T) c.245A>T (p.Asn82Ile) c.2015A>T (p.Asn672Ile) n.2030A>T | |
11 | g.68406711T>A | CA381615719 | LRP5 | c.1989T>A (p.Asn663Lys) c.*595T>A (n.*595T>A) c.246T>A (p.Asn82Lys) c.2016T>A (p.Asn672Lys) n.2031T>A | dbSNP |
11 | g.68406711T>C | CA475516408 | LRP5 | c.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 |
11 | g.68406711T>G | CA381615718 | LRP5 | c.1989T>G (p.Asn663Lys) c.*595T>G (n.*595T>G) c.246T>G (p.Asn82Lys) c.2016T>G (p.Asn672Lys) n.2031T>G | |
11 | g.68406711T= | CA1980654715 | LRP5 | c.1989T= (p.Asn663=) c.*595T= (n.*595T=) c.246T= (p.Asn82=) c.2016T= (p.Asn672=) n.2031T= | |
11 | g.68406711_68406714delinsTAAC | CA1980654716 | LRP5 | c.1989_1992delinsTAAC (p.Asn663=) c.*595_*598delinsTAAC (n.*595_*598delinsTAAC) c.246_249delinsTAAC (p.Asn82=) c.2016_2019delinsTAAC (p.Asn672=) n.2031_2034delinsTAAC | |
11 | g.68406712A>C | CA381615720 | LRP5 | c.1990A>C (p.Asn664His) c.*596A>C (n.*596A>C) c.247A>C (p.Asn83His) c.2017A>C (p.Asn673His) n.2032A>C | |
11 | g.68406712A>G | CA381615721 | LRP5 | c.1990A>G (p.Asn664Asp) c.*596A>G (n.*596A>G) c.247A>G (p.Asn83Asp) c.2017A>G (p.Asn673Asp) n.2032A>G | |
11 | g.68406712A>T | CA381615722 | LRP5 | c.1990A>T (p.Asn664Tyr) c.*596A>T (n.*596A>T) c.247A>T (p.Asn83Tyr) c.2017A>T (p.Asn673Tyr) n.2032A>T | |
11 | g.68406715_68406717del | CA6149500 | LRP5 | c.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 |
11 | g.68406713A>C | CA381615723 | LRP5 | c.1991A>C (p.Asn664Thr) c.*597A>C (n.*597A>C) c.248A>C (p.Asn83Thr) c.2018A>C (p.Asn673Thr) n.2033A>C | |
11 | g.68406713A>G | CA381615724 | LRP5 | c.1991A>G (p.Asn664Ser) c.*597A>G (n.*597A>G) c.248A>G (p.Asn83Ser) c.2018A>G (p.Asn673Ser) n.2033A>G | |
11 | g.68406713A>T | CA381615725 | LRP5 | c.1991A>T (p.Asn664Ile) c.*597A>T (n.*597A>T) c.248A>T (p.Asn83Ile) c.2018A>T (p.Asn673Ile) n.2033A>T | |
11 | g.68406714C>A | CA381615726 | LRP5 | c.1992C>A (p.Asn664Lys) c.*598C>A (n.*598C>A) c.249C>A (p.Asn83Lys) c.2019C>A (p.Asn673Lys) n.2034C>A | |
11 | g.68406714C= | CA1980654717 | LRP5 | c.1992C= (p.Asn664=) c.*598C= (n.*598C=) c.249C= (p.Asn83=) c.2019C= (p.Asn673=) n.2034C= | |
11 | g.68406714C>G | CA381615727 | LRP5 | c.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 |
11 | g.68406714C>T | CA6149501 | LRP5 | c.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 |
11 | g.68406715A= | CA1980654718 | LRP5 | c.1993A= (p.Asn665=) c.*599A= (n.*599A=) c.250A= (p.Asn84=) c.2020A= (p.Asn674=) n.2035A= | |
11 | g.68406715A>C | CA381615728 | LRP5 | c.1993A>C (p.Asn665His) c.*599A>C (n.*599A>C) c.250A>C (p.Asn84His) c.2020A>C (p.Asn674His) n.2035A>C | ClinVar |
11 | g.68406715A>G | CA381615729 | LRP5 | c.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 |
11 | g.68406715A>T | CA381615730 | LRP5 | c.1993A>T (p.Asn665Tyr) c.*599A>T (n.*599A>T) c.250A>T (p.Asn84Tyr) c.2020A>T (p.Asn674Tyr) n.2035A>T | |
11 | g.68406716A= | CA1980654719 | LRP5 | c.1994A= (p.Asn665=) c.*600A= (n.*600A=) c.251A= (p.Asn84=) c.2021A= (p.Asn674=) n.2036A= | |
11 | g.68406716A>C | CA381615733 | LRP5 | c.1994A>C (p.Asn665Thr) c.*600A>C (n.*600A>C) c.251A>C (p.Asn84Thr) c.2021A>C (p.Asn674Thr) n.2036A>C | |
11 | g.68406716A>G | CA381615731 | LRP5 | c.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 |
11 | g.68406716A>T | CA381615732 | LRP5 | c.1994A>T (p.Asn665Ile) c.*600A>T (n.*600A>T) c.251A>T (p.Asn84Ile) c.2021A>T (p.Asn674Ile) n.2036A>T | |
11 | g.68406717C>A | CA381615734 | LRP5 | c.1995C>A (p.Asn665Lys) c.*601C>A (n.*601C>A) c.252C>A (p.Asn84Lys) c.2022C>A (p.Asn674Lys) n.2037C>A | |
11 | g.68406717C= | CA1980654720 | LRP5 | c.1995C= (p.Asn665=) c.*601C= (n.*601C=) c.252C= (p.Asn84=) c.2022C= (p.Asn674=) n.2037C= | |
11 | g.68406717C>G | CA381615735 | LRP5 | c.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 |
11 | g.68406717C>T | CA6149502 | LRP5 | c.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 |
11 | g.68406718G>A | CA6149503 | LRP5 | c.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 |
11 | g.68406718G>C | CA381615736 | LRP5 | c.1996G>C (p.Asp666His) c.*602G>C (n.*602G>C) c.253G>C (p.Asp85His) c.2023G>C (p.Asp675His) n.2038G>C | |
11 | g.68406718G= | CA1980654721 | LRP5 | c.1996G= (p.Asp666=) c.*602G= (n.*602G=) c.253G= (p.Asp85=) c.2023G= (p.Asp675=) n.2038G= | |
11 | g.68406718G>T | CA381615737 | LRP5 | c.1996G>T (p.Asp666Tyr) c.*602G>T (n.*602G>T) c.253G>T (p.Asp85Tyr) c.2023G>T (p.Asp675Tyr) n.2038G>T | |
11 | g.68406719A>C | CA381615738 | LRP5 | c.1997A>C (p.Asp666Ala) c.*603A>C (n.*603A>C) c.254A>C (p.Asp85Ala) c.2024A>C (p.Asp675Ala) n.2039A>C | |
11 | g.68406719A>G | CA381615739 | LRP5 | c.1997A>G (p.Asp666Gly) c.*603A>G (n.*603A>G) c.254A>G (p.Asp85Gly) c.2024A>G (p.Asp675Gly) n.2039A>G | |
11 | g.68406719A>T | CA381615740 | LRP5 | c.1997A>T (p.Asp666Val) c.*603A>T (n.*603A>T) c.254A>T (p.Asp85Val) c.2024A>T (p.Asp675Val) n.2039A>T | |
11 | g.68406720C>A | CA381615741 | LRP5 | c.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 |
11 | g.68406720C= | CA1980654722 | LRP5 | c.1998C= (p.Asp666=) c.*604C= (n.*604C=) c.255C= (p.Asp85=) c.2025C= (p.Asp675=) n.2040C= | |
11 | g.68406720C>G | CA381615742 | LRP5 | c.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 |
11 | g.68406720C>T | CA6149504 | LRP5 | c.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 |
11 | g.68406721G>A | CA213422 | LRP5 | c.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 |
11 | g.68406721G>C | CA224268372 | LRP5 | c.1999G>C (p.Val667Leu) c.*605G>C (n.*605G>C) c.256G>C (p.Val86Leu) c.2026G>C (p.Val676Leu) n.2041G>C | dbSNP |
11 | g.68406721G= | CA1980654723 | LRP5 | c.1999G= (p.Val667=) c.*605G= (n.*605G=) c.256G= (p.Val86=) c.2026G= (p.Val676=) n.2041G= | |
11 | g.68406721G>T | CA381615743 | LRP5 | c.1999G>T (p.Val667Leu) c.*605G>T (n.*605G>T) c.256G>T (p.Val86Leu) c.2026G>T (p.Val676Leu) n.2041G>T | |
11 | g.68406722T>A | CA381615744 | LRP5 | c.2000T>A (p.Val667Glu) c.*606T>A (n.*606T>A) c.257T>A (p.Val86Glu) c.2027T>A (p.Val676Glu) n.2042T>A | |
11 | g.68406722T>C | CA381615745 | LRP5 | c.2000T>C (p.Val667Ala) c.*606T>C (n.*606T>C) c.257T>C (p.Val86Ala) c.2027T>C (p.Val676Ala) n.2042T>C | |
11 | g.68406722T>G | CA381615746 | LRP5 | c.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 |
11 | g.68406722T= | CA1980654724 | LRP5 | c.2000T= (p.Val667=) c.*606T= (n.*606T=) c.257T= (p.Val86=) c.2027T= (p.Val676=) n.2042T= | |
11 | g.68406723G>A | CA475516414 | LRP5 | c.2001G>A (p.Val667=) c.*607G>A (n.*607G>A) c.258G>A (p.Val86=) c.2028G>A (p.Val676=) n.2043G>A | |
11 | g.68406723G>C | CA475516415 | LRP5 | c.2001G>C (p.Val667=) c.*607G>C (n.*607G>C) c.258G>C (p.Val86=) c.2028G>C (p.Val676=) n.2043G>C | |
11 | g.68406723G>T | CA475516416 | LRP5 | c.2001G>T (p.Val667=) c.*607G>T (n.*607G>T) c.258G>T (p.Val86=) c.2028G>T (p.Val676=) n.2043G>T | |
11 | g.68406724G>A | CA381615747 | LRP5 | c.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 |
11 | g.68406724G>C | CA381615748 | LRP5 | c.2002G>C (p.Ala668Pro) c.*608G>C (n.*608G>C) c.259G>C (p.Ala87Pro) c.2029G>C (p.Ala677Pro) n.2044G>C | |
11 | g.68406724G= | CA1980654725 | LRP5 | c.2002G= (p.Ala668=) c.*608G= (n.*608G=) c.259G= (p.Ala87=) c.2029G= (p.Ala677=) n.2044G= | |
11 | g.68406724G>T | CA381615749 | LRP5 | c.2002G>T (p.Ala668Ser) c.*608G>T (n.*608G>T) c.259G>T (p.Ala87Ser) c.2029G>T (p.Ala677Ser) n.2044G>T | |
11 | g.68406725C>A | CA381615750 | LRP5 | c.2003C>A (p.Ala668Asp) c.*609C>A (n.*609C>A) c.260C>A (p.Ala87Asp) c.2030C>A (p.Ala677Asp) n.2045C>A | |
11 | g.68406725C= | CA1980654726 | LRP5 | c.2003C= (p.Ala668=) c.*609C= (n.*609C=) c.260C= (p.Ala87=) c.2030C= (p.Ala677=) n.2045C= | |
11 | g.68406725C>G | CA381615751 | LRP5 | c.2003C>G (p.Ala668Gly) c.*609C>G (n.*609C>G) c.260C>G (p.Ala87Gly) c.2030C>G (p.Ala677Gly) n.2045C>G | |
11 | g.68406725C>T | CA6149505 | LRP5 | c.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 |
11 | g.68406726C>A | CA475516422 | LRP5 | c.2004C>A (p.Ala668=) c.*610C>A (n.*610C>A) c.261C>A (p.Ala87=) c.2031C>A (p.Ala677=) n.2046C>A | |
11 | g.68406726C>G | CA475516421 | LRP5 | c.2004C>G (p.Ala668=) c.*610C>G (n.*610C>G) c.261C>G (p.Ala87=) c.2031C>G (p.Ala677=) n.2046C>G | |
11 | g.68406726C>T | CA475516420 | LRP5 | c.2004C>T (p.Ala668=) c.*610C>T (n.*610C>T) c.261C>T (p.Ala87=) c.2031C>T (p.Ala677=) n.2046C>T | |
11 | g.68406727A>C | CA381615752 | LRP5 | c.2005A>C (p.Ile669Leu) c.*611A>C (n.*611A>C) c.262A>C (p.Ile88Leu) c.2032A>C (p.Ile678Leu) n.2047A>C | |
11 | g.68406727A>G | CA381615753 | LRP5 | c.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 |
11 | g.68406727A>T | CA381615754 | LRP5 | c.2005A>T (p.Ile669Phe) c.*611A>T (n.*611A>T) c.262A>T (p.Ile88Phe) c.2032A>T (p.Ile678Phe) n.2047A>T | |
11 | g.68406728T>A | CA381615755 | LRP5 | c.2006T>A (p.Ile669Asn) c.*612T>A (n.*612T>A) c.263T>A (p.Ile88Asn) c.2033T>A (p.Ile678Asn) n.2048T>A | |
11 | g.68406728T>C | CA381615757 | LRP5 | c.2006T>C (p.Ile669Thr) c.*612T>C (n.*612T>C) c.263T>C (p.Ile88Thr) c.2033T>C (p.Ile678Thr) n.2048T>C | |
11 | g.68406728T>G | CA381615756 | LRP5 | c.2006T>G (p.Ile669Ser) c.*612T>G (n.*612T>G) c.263T>G (p.Ile88Ser) c.2033T>G (p.Ile678Ser) n.2048T>G | |
11 | g.68406729C>A | CA475516424 | LRP5 | c.2007C>A (p.Ile669=) c.*613C>A (n.*613C>A) c.264C>A (p.Ile88=) c.2034C>A (p.Ile678=) n.2049C>A | |
11 | g.68406729C>G | CA381615758 | LRP5 | c.2007C>G (p.Ile669Met) c.*613C>G (n.*613C>G) c.264C>G (p.Ile88Met) c.2034C>G (p.Ile678Met) n.2049C>G | |
11 | g.68406729C>T | CA475516425 | LRP5 | c.2007C>T (p.Ile669=) c.*613C>T (n.*613C>T) c.264C>T (p.Ile88=) c.2034C>T (p.Ile678=) n.2049C>T | |
11 | g.68406730C>A | CA381615759 | LRP5 | c.2008C>A (p.Pro670Thr) c.*614C>A (n.*614C>A) c.265C>A (p.Pro89Thr) c.2035C>A (p.Pro679Thr) n.2050C>A | |
11 | g.68406730C>G | CA381615760 | LRP5 | c.2008C>G (p.Pro670Ala) c.*614C>G (n.*614C>G) c.265C>G (p.Pro89Ala) c.2035C>G (p.Pro679Ala) n.2050C>G | |
11 | g.68406730C>T | CA381615761 | LRP5 | c.2008C>T (p.Pro670Ser) c.*614C>T (n.*614C>T) c.265C>T (p.Pro89Ser) c.2035C>T (p.Pro679Ser) n.2050C>T | |
11 | g.68406731C>A | CA381615762 | LRP5 | c.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 |
11 | g.68406731C= | CA1980654727 | LRP5 | c.2009C= (p.Pro670=) c.*615C= (n.*615C=) c.266C= (p.Pro89=) c.2036C= (p.Pro679=) n.2051C= | |
11 | g.68406731C>G | CA381615763 | LRP5 | c.2009C>G (p.Pro670Arg) c.*615C>G (n.*615C>G) c.266C>G (p.Pro89Arg) c.2036C>G (p.Pro679Arg) n.2051C>G | |
11 | g.68406731C>T | CA6149506 | LRP5 | c.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 |
11 | g.68406732G>A | CA6149507 | LRP5 | c.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 |
11 | g.68406732G>C | CA475516427 | LRP5 | c.2010G>C (p.Pro670=) c.*616G>C (n.*616G>C) c.267G>C (p.Pro89=) c.2037G>C (p.Pro679=) n.2052G>C | |
11 | g.68406732G= | CA1980654728 | LRP5 | c.2010G= (p.Pro670=) c.*616G= (n.*616G=) c.267G= (p.Pro89=) c.2037G= (p.Pro679=) n.2052G= | |
11 | g.68406732G>T | CA475516428 | LRP5 | c.2010G>T (p.Pro670=) c.*616G>T (n.*616G>T) c.267G>T (p.Pro89=) c.2037G>T (p.Pro679=) n.2052G>T | COSMIC |
11 | g.68406733C>A | CA381615764 | LRP5 | c.2011C>A (p.Leu671Ile) c.*617C>A (n.*617C>A) c.268C>A (p.Leu90Ile) c.2038C>A (p.Leu680Ile) n.2053C>A | |
11 | g.68406733C>G | CA381615765 | LRP5 | c.2011C>G (p.Leu671Val) c.*617C>G (n.*617C>G) c.268C>G (p.Leu90Val) c.2038C>G (p.Leu680Val) n.2053C>G | |
11 | g.68406733C>T | CA381615766 | LRP5 | c.2011C>T (p.Leu671Phe) c.*617C>T (n.*617C>T) c.268C>T (p.Leu90Phe) c.2038C>T (p.Leu680Phe) n.2053C>T | |
11 | g.68406734T>A | CA381615767 | LRP5 | c.2012T>A (p.Leu671His) c.*618T>A (n.*618T>A) c.269T>A (p.Leu90His) c.2039T>A (p.Leu680His) n.2054T>A | |
11 | g.68406734T>C | CA381615768 | LRP5 | c.2012T>C (p.Leu671Pro) c.*618T>C (n.*618T>C) c.269T>C (p.Leu90Pro) c.2039T>C (p.Leu680Pro) n.2054T>C | |
11 | g.68406734T>G | CA381615769 | LRP5 | c.2012T>G (p.Leu671Arg) c.*618T>G (n.*618T>G) c.269T>G (p.Leu90Arg) c.2039T>G (p.Leu680Arg) n.2054T>G | COSMIC |
11 | g.68406735del | CA2695214919 | LRP5 | c.2013del (p.Thr672ArgfsTer25) c.*619del (n.*619del) c.270del (p.Thr91ArgfsTer25) c.2040del (p.Thr681ArgfsTer25) n.2055del | |
11 | g.68406735C>A | CA475516430 | LRP5 | c.2013C>A (p.Leu671=) c.*619C>A (n.*619C>A) c.270C>A (p.Leu90=) c.2040C>A (p.Leu680=) n.2055C>A | |
11 | g.68406735C= | CA1980654729 | LRP5 | c.2013C= (p.Leu671=) c.*619C= (n.*619C=) c.270C= (p.Leu90=) c.2040C= (p.Leu680=) n.2055C= | |
11 | g.68406735C>G | CA475516431 | LRP5 | c.2013C>G (p.Leu671=) c.*619C>G (n.*619C>G) c.270C>G (p.Leu90=) c.2040C>G (p.Leu680=) n.2055C>G | |
11 | g.68406735C>T | CA475516432 | LRP5 | c.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 |
11 | g.68406736A>C | CA381615770 | LRP5 | c.2014A>C (p.Thr672Pro) c.*620A>C (n.*620A>C) c.271A>C (p.Thr91Pro) c.2041A>C (p.Thr681Pro) n.2056A>C | |
11 | g.68406736A>G | CA381615772 | LRP5 | c.2014A>G (p.Thr672Ala) c.*620A>G (n.*620A>G) c.271A>G (p.Thr91Ala) c.2041A>G (p.Thr681Ala) n.2056A>G | |
11 | g.68406736A>T | CA381615771 | LRP5 | c.2014A>T (p.Thr672Ser) c.*620A>T (n.*620A>T) c.271A>T (p.Thr91Ser) c.2041A>T (p.Thr681Ser) n.2056A>T | |
11 | g.68406737C>A | CA381615773 | LRP5 | c.2015C>A (p.Thr672Lys) c.*621C>A (n.*621C>A) c.272C>A (p.Thr91Lys) c.2042C>A (p.Thr681Lys) n.2057C>A | |
11 | g.68406737C= | CA1980654730 | LRP5 | c.2015C= (p.Thr672=) c.*621C= (n.*621C=) c.272C= (p.Thr91=) c.2042C= (p.Thr681=) n.2057C= | |
11 | g.68406737C>G | CA381615774 | LRP5 | c.2015C>G (p.Thr672Arg) c.*621C>G (n.*621C>G) c.272C>G (p.Thr91Arg) c.2042C>G (p.Thr681Arg) n.2057C>G | |
11 | g.68406737C>T | CA6149508 | LRP5 | c.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 |
11 | g.68406738G>A | CA6149509 | LRP5 | c.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 |
11 | g.68406738G>C | CA475516436 | LRP5 | c.2016G>C (p.Thr672=) c.*622G>C (n.*622G>C) c.273G>C (p.Thr91=) c.2043G>C (p.Thr681=) n.2058G>C | |
11 | g.68406738G= | CA1980654731 | LRP5 | c.2016G= (p.Thr672=) c.*622G= (n.*622G=) c.273G= (p.Thr91=) c.2043G= (p.Thr681=) n.2058G= | |
11 | g.68406738G>T | CA475516437 | LRP5 | c.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 |
11 | g.68406739G>A | CA381615775 | LRP5 | c.2017G>A (p.Gly673Ser) c.*623G>A (n.*623G>A) c.274G>A (p.Gly92Ser) c.2044G>A (p.Gly682Ser) n.2059G>A | COSMIC |
11 | g.68406739G>C | CA381615776 | LRP5 | c.2017G>C (p.Gly673Arg) c.*623G>C (n.*623G>C) c.274G>C (p.Gly92Arg) c.2044G>C (p.Gly682Arg) n.2059G>C | |
11 | g.68406739G>T | CA381615777 | LRP5 | c.2017G>T (p.Gly673Cys) c.*623G>T (n.*623G>T) c.274G>T (p.Gly92Cys) c.2044G>T (p.Gly682Cys) n.2059G>T | |
11 | g.68406740G>A | CA381615778 | LRP5 | c.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 |
11 | g.68406740G>C | CA381615779 | LRP5 | c.2018G>C (p.Gly673Ala) c.*624G>C (n.*624G>C) c.275G>C (p.Gly92Ala) c.2045G>C (p.Gly682Ala) n.2060G>C | |
11 | g.68406740G= | CA1980654732 | LRP5 | c.2018G= (p.Gly673=) c.*624G= (n.*624G=) c.275G= (p.Gly92=) c.2045G= (p.Gly682=) n.2060G= | |
11 | g.68406740G>T | CA381615780 | LRP5 | c.2018G>T (p.Gly673Val) c.*624G>T (n.*624G>T) c.275G>T (p.Gly92Val) c.2045G>T (p.Gly682Val) n.2060G>T | dbSNP |
11 | g.68406741C>A | CA475516439 | LRP5 | c.2019C>A (p.Gly673=) c.*625C>A (n.*625C>A) c.276C>A (p.Gly92=) c.2046C>A (p.Gly682=) n.2061C>A | dbSNP |
11 | g.68406741C= | CA1980654733 | LRP5 | c.2019C= (p.Gly673=) c.*625C= (n.*625C=) c.276C= (p.Gly92=) c.2046C= (p.Gly682=) n.2061C= | |
11 | g.68406741C>G | CA475516440 | LRP5 | c.2019C>G (p.Gly673=) c.*625C>G (n.*625C>G) c.276C>G (p.Gly92=) c.2046C>G (p.Gly682=) n.2061C>G | |
11 | g.68406741C>T | CA6149510 | LRP5 | c.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 |
11 | g.68406742G>A | CA224268405 | LRP5 | c.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 |
11 | g.68406742G>C | CA381615782 | LRP5 | c.2020G>C (p.Val674Leu) c.*626G>C (n.*626G>C) c.277G>C (p.Val93Leu) c.2047G>C (p.Val683Leu) n.2062G>C | |
11 | g.68406742G= | CA1980654734 | LRP5 | c.2020G= (p.Val674=) c.*626G= (n.*626G=) c.277G= (p.Val93=) c.2047G= (p.Val683=) n.2062G= | |
11 | g.68406742G>T | CA381615781 | LRP5 | c.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 |
11 | g.68406743T>A | CA381615783 | LRP5 | c.2021T>A (p.Val674Asp) c.*627T>A (n.*627T>A) c.278T>A (p.Val93Asp) c.2048T>A (p.Val683Asp) n.2063T>A | |
11 | g.68406743T>C | CA381615784 | LRP5 | c.2021T>C (p.Val674Ala) c.*627T>C (n.*627T>C) c.278T>C (p.Val93Ala) c.2048T>C (p.Val683Ala) n.2063T>C | |
11 | g.68406743T>G | CA381615785 | LRP5 | c.2021T>G (p.Val674Gly) c.*627T>G (n.*627T>G) c.278T>G (p.Val93Gly) c.2048T>G (p.Val683Gly) n.2063T>G | |
11 | g.68406744C>A | CA475516441 | LRP5 | c.2022C>A (p.Val674=) c.*628C>A (n.*628C>A) c.279C>A (p.Val93=) c.2049C>A (p.Val683=) n.2064C>A | |
11 | g.68406744C= | CA1980654735 | LRP5 | c.2022C= (p.Val674=) c.*628C= (n.*628C=) c.279C= (p.Val93=) c.2049C= (p.Val683=) n.2064C= | |
11 | g.68406744C>G | CA475516442 | LRP5 | c.2022C>G (p.Val674=) c.*628C>G (n.*628C>G) c.279C>G (p.Val93=) c.2049C>G (p.Val683=) n.2064C>G | |
11 | g.68406744C>T | CA6149511 | LRP5 | c.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 |
11 | g.68406745A>C | CA381615786 | LRP5 | c.2023A>C (p.Lys675Gln) c.*629A>C (n.*629A>C) c.280A>C (p.Lys94Gln) c.2050A>C (p.Lys684Gln) n.2065A>C | |
11 | g.68406745A>G | CA381615787 | LRP5 | c.2023A>G (p.Lys675Glu) c.*629A>G (n.*629A>G) c.280A>G (p.Lys94Glu) c.2050A>G (p.Lys684Glu) n.2065A>G | |
11 | g.68406745A>T | CA381615788 | LRP5 | c.2023A>T (p.Lys675Ter) c.*629A>T (n.*629A>T) c.280A>T (p.Lys94Ter) c.2050A>T (p.Lys684Ter) n.2065A>T | |
11 | g.68406746A= | CA1980654736 | LRP5 | c.2024A= (p.Lys675=) c.*630A= (n.*630A=) c.281A= (p.Lys94=) c.2051A= (p.Lys684=) n.2066A= | |
11 | g.68406746A>C | CA381615789 | LRP5 | c.2024A>C (p.Lys675Thr) c.*630A>C (n.*630A>C) c.281A>C (p.Lys94Thr) c.2051A>C (p.Lys684Thr) n.2066A>C | |
11 | g.68406746A>G | CA6149512 | LRP5 | c.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 |
11 | g.68406746A>T | CA381615790 | LRP5 | c.2024A>T (p.Lys675Met) c.*630A>T (n.*630A>T) c.281A>T (p.Lys94Met) c.2051A>T (p.Lys684Met) n.2066A>T | |
11 | g.68406747G>A | CA475516444 | LRP5 | c.2025G>A (p.Lys675=) c.*631G>A (n.*631G>A) c.282G>A (p.Lys94=) c.2052G>A (p.Lys684=) n.2067G>A | |
11 | g.68406747G>C | CA381615791 | LRP5 | c.2025G>C (p.Lys675Asn) c.*631G>C (n.*631G>C) c.282G>C (p.Lys94Asn) c.2052G>C (p.Lys684Asn) n.2067G>C | |
11 | g.68406747G>T | CA381615792 | LRP5 | c.2025G>T (p.Lys675Asn) c.*631G>T (n.*631G>T) c.282G>T (p.Lys94Asn) c.2052G>T (p.Lys684Asn) n.2067G>T | |
11 | g.68406748G>A | CA381615795 | LRP5 | c.2026G>A (p.Glu676Lys) c.*632G>A (n.*632G>A) c.283G>A (p.Glu95Lys) c.2053G>A (p.Glu685Lys) n.2068G>A | |
11 | g.68406748G>C | CA381615793 | LRP5 | c.2026G>C (p.Glu676Gln) c.*632G>C (n.*632G>C) c.283G>C (p.Glu95Gln) c.2053G>C (p.Glu685Gln) n.2068G>C | |
11 | g.68406748G>T | CA381615794 | LRP5 | c.2026G>T (p.Glu676Ter) c.*632G>T (n.*632G>T) c.283G>T (p.Glu95Ter) c.2053G>T (p.Glu685Ter) n.2068G>T |