Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.94435836G>ACA382374022MRE11c.1990C>T (p.Gln664Ter)
c.1906C>T (p.Gln636Ter)
c.1987C>T (p.Gln663Ter)
c.1999C>T (p.Gln667Ter)
c.1522C>T (p.Gln508Ter)
n.2286C>T
11g.94435836G>CCA382374023MRE11c.1990C>G (p.Gln664Glu)
c.1906C>G (p.Gln636Glu)
c.1987C>G (p.Gln663Glu)
c.1999C>G (p.Gln667Glu)
c.1522C>G (p.Gln508Glu)
n.2286C>G
 ClinVar dbSNP
11g.94435836G=CA1992448295MRE11c.1990C= (p.Gln664=)
c.1906C= (p.Gln636=)
c.1987C= (p.Gln663=)
c.1999C= (p.Gln667=)
c.1522C= (p.Gln508=)
n.2286C=
11g.94435836G>TCA382374024MRE11c.1990C>A (p.Gln664Lys)
c.1906C>A (p.Gln636Lys)
c.1987C>A (p.Gln663Lys)
c.1999C>A (p.Gln667Lys)
c.1522C>A (p.Gln508Lys)
n.2286C>A
11g.94435837A=CA1992448316MRE11c.1989T= (p.Asp663=)
c.1905T= (p.Asp635=)
c.1986T= (p.Asp662=)
c.1998T= (p.Asp666=)
c.1521T= (p.Asp507=)
n.2285T=
11g.94435837A>CCA382374026MRE11c.1989T>G (p.Asp663Glu)
c.1905T>G (p.Asp635Glu)
c.1986T>G (p.Asp662Glu)
c.1998T>G (p.Asp666Glu)
c.1521T>G (p.Asp507Glu)
n.2285T>G
 ClinVar dbSNP
11g.94435837A>GCA476287091MRE11c.1989T>C (p.Asp663=)
c.1905T>C (p.Asp635=)
c.1986T>C (p.Asp662=)
c.1998T>C (p.Asp666=)
c.1521T>C (p.Asp507=)
n.2285T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94435837A>TCA382374025MRE11c.1989T>A (p.Asp663Glu)
c.1905T>A (p.Asp635Glu)
c.1986T>A (p.Asp662Glu)
c.1998T>A (p.Asp666Glu)
c.1521T>A (p.Asp507Glu)
n.2285T>A
 gnomAD v4
11g.94435838T>ACA382374027MRE11c.1988A>T (p.Asp663Val)
c.1904A>T (p.Asp635Val)
c.1985A>T (p.Asp662Val)
c.1997A>T (p.Asp666Val)
c.1520A>T (p.Asp507Val)
n.2284A>T
11g.94435838T>CCA382374028MRE11c.1988A>G (p.Asp663Gly)
c.1904A>G (p.Asp635Gly)
c.1985A>G (p.Asp662Gly)
c.1997A>G (p.Asp666Gly)
c.1520A>G (p.Asp507Gly)
n.2284A>G
 ClinVar dbSNP
11g.94435838T>GCA382374029MRE11c.1988A>C (p.Asp663Ala)
c.1904A>C (p.Asp635Ala)
c.1985A>C (p.Asp662Ala)
c.1997A>C (p.Asp666Ala)
c.1520A>C (p.Asp507Ala)
n.2284A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94435838T=CA1992448324MRE11c.1988A= (p.Asp663=)
c.1904A= (p.Asp635=)
c.1985A= (p.Asp662=)
c.1997A= (p.Asp666=)
c.1520A= (p.Asp507=)
n.2284A=
11g.94435839C>ACA382374030MRE11c.1987G>T (p.Asp663Tyr)
c.1903G>T (p.Asp635Tyr)
c.1984G>T (p.Asp662Tyr)
c.1996G>T (p.Asp666Tyr)
c.1519G>T (p.Asp507Tyr)
n.2283G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94435839C=CA1992448334MRE11c.1987G= (p.Asp663=)
c.1903G= (p.Asp635=)
c.1984G= (p.Asp662=)
c.1996G= (p.Asp666=)
c.1519G= (p.Asp507=)
n.2283G=
11g.94435839C>GCA382374031MRE11c.1987G>C (p.Asp663His)
c.1903G>C (p.Asp635His)
c.1984G>C (p.Asp662His)
c.1996G>C (p.Asp666His)
c.1519G>C (p.Asp507His)
n.2283G>C
11g.94435839C>TCA382374032MRE11c.1987G>A (p.Asp663Asn)
c.1903G>A (p.Asp635Asn)
c.1984G>A (p.Asp662Asn)
c.1996G>A (p.Asp666Asn)
c.1519G>A (p.Asp507Asn)
n.2283G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94435840T>ACA476287094MRE11c.1986A>T (p.Thr662=)
c.1902A>T (p.Thr634=)
c.1983A>T (p.Thr661=)
c.1995A>T (p.Thr665=)
c.1518A>T (p.Thr506=)
n.2282A>T
11g.94435840T>CCA476287095MRE11c.1986A>G (p.Thr662=)
c.1902A>G (p.Thr634=)
c.1983A>G (p.Thr661=)
c.1995A>G (p.Thr665=)
c.1518A>G (p.Thr506=)
n.2282A>G
11g.94435840T>GCA476287096MRE11c.1986A>C (p.Thr662=)
c.1902A>C (p.Thr634=)
c.1983A>C (p.Thr661=)
c.1995A>C (p.Thr665=)
c.1518A>C (p.Thr506=)
n.2282A>C
11g.94435841G>ACA382374035MRE11c.1985C>T (p.Thr662Ile)
c.1901C>T (p.Thr634Ile)
c.1982C>T (p.Thr661Ile)
c.1994C>T (p.Thr665Ile)
c.1517C>T (p.Thr506Ile)
n.2281C>T
 gnomAD v4
11g.94435841G>CCA382374033MRE11c.1985C>G (p.Thr662Arg)
c.1901C>G (p.Thr634Arg)
c.1982C>G (p.Thr661Arg)
c.1994C>G (p.Thr665Arg)
c.1517C>G (p.Thr506Arg)
n.2281C>G
11g.94435841G>TCA382374034MRE11c.1985C>A (p.Thr662Lys)
c.1901C>A (p.Thr634Lys)
c.1982C>A (p.Thr661Lys)
c.1994C>A (p.Thr665Lys)
c.1517C>A (p.Thr506Lys)
n.2281C>A
11g.94435842T>ACA382374036MRE11c.1984A>T (p.Thr662Ser)
c.1900A>T (p.Thr634Ser)
c.1981A>T (p.Thr661Ser)
c.1993A>T (p.Thr665Ser)
c.1516A>T (p.Thr506Ser)
n.2280A>T
11g.94435842T>CCA382374037MRE11c.1984A>G (p.Thr662Ala)
c.1900A>G (p.Thr634Ala)
c.1981A>G (p.Thr661Ala)
c.1993A>G (p.Thr665Ala)
c.1516A>G (p.Thr506Ala)
n.2280A>G
 ClinVar dbSNP
11g.94435842T>GCA382374038MRE11c.1984A>C (p.Thr662Pro)
c.1900A>C (p.Thr634Pro)
c.1981A>C (p.Thr661Pro)
c.1993A>C (p.Thr665Pro)
c.1516A>C (p.Thr506Pro)
n.2280A>C
11g.94435842T=CA1992426068MRE11c.1984A= (p.Thr662=)
c.1900A= (p.Thr634=)
c.1981A= (p.Thr661=)
c.1993A= (p.Thr665=)
c.1516A= (p.Thr506=)
n.2280A=
11g.94435843C>ACA382374039MRE11c.1983G>T (p.Lys661Asn)
c.1899G>T (p.Lys633Asn)
c.1980G>T (p.Lys660Asn)
c.1992G>T (p.Lys664Asn)
c.1515G>T (p.Lys505Asn)
n.2279G>T
11g.94435843C>GCA382374040MRE11c.1983G>C (p.Lys661Asn)
c.1899G>C (p.Lys633Asn)
c.1980G>C (p.Lys660Asn)
c.1992G>C (p.Lys664Asn)
c.1515G>C (p.Lys505Asn)
n.2279G>C
11g.94435843C>TCA476287099MRE11c.1983G>A (p.Lys661=)
c.1899G>A (p.Lys633=)
c.1980G>A (p.Lys660=)
c.1992G>A (p.Lys664=)
c.1515G>A (p.Lys505=)
n.2279G>A
 ClinVar
11g.94435844T>ACA382374041MRE11c.1982A>T (p.Lys661Met)
c.1898A>T (p.Lys633Met)
c.1979A>T (p.Lys660Met)
c.1991A>T (p.Lys664Met)
c.1514A>T (p.Lys505Met)
n.2278A>T
11g.94435844T>CCA382374042MRE11c.1982A>G (p.Lys661Arg)
c.1898A>G (p.Lys633Arg)
c.1979A>G (p.Lys660Arg)
c.1991A>G (p.Lys664Arg)
c.1514A>G (p.Lys505Arg)
n.2278A>G
11g.94435844T>GCA382374043MRE11c.1982A>C (p.Lys661Thr)
c.1898A>C (p.Lys633Thr)
c.1979A>C (p.Lys660Thr)
c.1991A>C (p.Lys664Thr)
c.1514A>C (p.Lys505Thr)
n.2278A>C
11g.94435845T>ACA382374044MRE11c.1981A>T (p.Lys661Ter)
c.1897A>T (p.Lys633Ter)
c.1978A>T (p.Lys660Ter)
c.1990A>T (p.Lys664Ter)
c.1513A>T (p.Lys505Ter)
n.2277A>T
11g.94435845T>CCA382374045MRE11c.1981A>G (p.Lys661Glu)
c.1897A>G (p.Lys633Glu)
c.1978A>G (p.Lys660Glu)
c.1990A>G (p.Lys664Glu)
c.1513A>G (p.Lys505Glu)
n.2277A>G
11g.94435845T>GCA382374046MRE11c.1981A>C (p.Lys661Gln)
c.1897A>C (p.Lys633Gln)
c.1978A>C (p.Lys660Gln)
c.1990A>C (p.Lys664Gln)
c.1513A>C (p.Lys505Gln)
n.2277A>C
11g.94435846T>ACA476287105MRE11c.1980A>T (p.Ser660=)
c.1896A>T (p.Ser632=)
c.1977A>T (p.Ser659=)
c.1989A>T (p.Ser663=)
c.1512A>T (p.Ser504=)
n.2276A>T
11g.94435846T>CCA476287103MRE11c.1980A>G (p.Ser660=)
c.1896A>G (p.Ser632=)
c.1977A>G (p.Ser659=)
c.1989A>G (p.Ser663=)
c.1512A>G (p.Ser504=)
n.2276A>G
11g.94435846T>GCA476287104MRE11c.1980A>C (p.Ser660=)
c.1896A>C (p.Ser632=)
c.1977A>C (p.Ser659=)
c.1989A>C (p.Ser663=)
c.1512A>C (p.Ser504=)
n.2276A>C
11g.94435846T=CA1992426069MRE11c.1980A= (p.Ser660=)
c.1896A= (p.Ser632=)
c.1977A= (p.Ser659=)
c.1989A= (p.Ser663=)
c.1512A= (p.Ser504=)
n.2276A=
11g.94435847G>ACA382374048MRE11c.1979C>T (p.Ser660Leu)
c.1895C>T (p.Ser632Leu)
c.1976C>T (p.Ser659Leu)
c.1988C>T (p.Ser663Leu)
c.1511C>T (p.Ser504Leu)
n.2275C>T
11g.94435847G>CCA382374049MRE11c.1979C>G (p.Ser660Ter)
c.1895C>G (p.Ser632Ter)
c.1976C>G (p.Ser659Ter)
c.1988C>G (p.Ser663Ter)
c.1511C>G (p.Ser504Ter)
n.2275C>G
11g.94435847G>TCA382374047MRE11c.1979C>A (p.Ser660Ter)
c.1895C>A (p.Ser632Ter)
c.1976C>A (p.Ser659Ter)
c.1988C>A (p.Ser663Ter)
c.1511C>A (p.Ser504Ter)
n.2275C>A
 ClinVar dbSNP
11g.94435847_94435866dupCA333185MRE11c.1960_1979dup (p.Lys661ThrfsTer?)
c.1876_1895dup (p.Lys633ThrfsTer?)
c.1957_1976dup (p.Lys660ThrfsTer?)
c.1969_1988dup (p.Lys664ThrfsTer?)
c.1492_1511dup (p.Lys505ThrfsTer?)
n.2256_2275dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94435848A>CCA382374050MRE11c.1978T>G (p.Ser660Ala)
c.1894T>G (p.Ser632Ala)
c.1975T>G (p.Ser659Ala)
c.1987T>G (p.Ser663Ala)
c.1510T>G (p.Ser504Ala)
n.2274T>G
 gnomAD v4
11g.94435848A>GCA382374051MRE11c.1978T>C (p.Ser660Pro)
c.1894T>C (p.Ser632Pro)
c.1975T>C (p.Ser659Pro)
c.1987T>C (p.Ser663Pro)
c.1510T>C (p.Ser504Pro)
n.2274T>C
11g.94435848A>TCA382374052MRE11c.1978T>A (p.Ser660Thr)
c.1894T>A (p.Ser632Thr)
c.1975T>A (p.Ser659Thr)
c.1987T>A (p.Ser663Thr)
c.1510T>A (p.Ser504Thr)
n.2274T>A
11g.94435849A=CA1992426074MRE11c.1977T= (p.Thr659=)
c.1893T= (p.Thr631=)
c.1974T= (p.Thr658=)
c.1986T= (p.Thr662=)
c.1509T= (p.Thr503=)
n.2273T=
11g.94435849A>CCA476287107MRE11c.1977T>G (p.Thr659=)
c.1893T>G (p.Thr631=)
c.1974T>G (p.Thr658=)
c.1986T>G (p.Thr662=)
c.1509T>G (p.Thr503=)
n.2273T>G
11g.94435849A>GCA476287108MRE11c.1977T>C (p.Thr659=)
c.1893T>C (p.Thr631=)
c.1974T>C (p.Thr658=)
c.1986T>C (p.Thr662=)
c.1509T>C (p.Thr503=)
n.2273T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94435849A>TCA476287110MRE11c.1977T>A (p.Thr659=)
c.1893T>A (p.Thr631=)
c.1974T>A (p.Thr658=)
c.1986T>A (p.Thr662=)
c.1509T>A (p.Thr503=)
n.2273T>A
11g.94435850G>ACA6234939MRE11c.1976C>T (p.Thr659Ile)
c.1892C>T (p.Thr631Ile)
c.1973C>T (p.Thr658Ile)
c.1985C>T (p.Thr662Ile)
c.1508C>T (p.Thr503Ile)
n.2272C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.94435850G>CCA382374053MRE11c.1976C>G (p.Thr659Ser)
c.1892C>G (p.Thr631Ser)
c.1973C>G (p.Thr658Ser)
c.1985C>G (p.Thr662Ser)
c.1508C>G (p.Thr503Ser)
n.2272C>G
11g.94435850G=CA1992426075MRE11c.1976C= (p.Thr659=)
c.1892C= (p.Thr631=)
c.1973C= (p.Thr658=)
c.1985C= (p.Thr662=)
c.1508C= (p.Thr503=)
n.2272C=
11g.94435850G>TCA382374054MRE11c.1976C>A (p.Thr659Asn)
c.1892C>A (p.Thr631Asn)
c.1973C>A (p.Thr658Asn)
c.1985C>A (p.Thr662Asn)
c.1508C>A (p.Thr503Asn)
n.2272C>A
11g.94435851T>ACA382374055MRE11c.1975A>T (p.Thr659Ser)
c.1891A>T (p.Thr631Ser)
c.1972A>T (p.Thr658Ser)
c.1984A>T (p.Thr662Ser)
c.1507A>T (p.Thr503Ser)
n.2271A>T
11g.94435851T>CCA382374056MRE11c.1975A>G (p.Thr659Ala)
c.1891A>G (p.Thr631Ala)
c.1972A>G (p.Thr658Ala)
c.1984A>G (p.Thr662Ala)
c.1507A>G (p.Thr503Ala)
n.2271A>G
11g.94435851T>GCA382374057MRE11c.1975A>C (p.Thr659Pro)
c.1891A>C (p.Thr631Pro)
c.1972A>C (p.Thr658Pro)
c.1984A>C (p.Thr662Pro)
c.1507A>C (p.Thr503Pro)
n.2271A>C
11g.94435852G>ACA339075MRE11c.1974C>T (p.Thr658=)
c.1890C>T (p.Thr630=)
c.1971C>T (p.Thr657=)
c.1983C>T (p.Thr661=)
c.1506C>T (p.Thr502=)
n.2270C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.94435852G>CCA476287112MRE11c.1974C>G (p.Thr658=)
c.1890C>G (p.Thr630=)
c.1971C>G (p.Thr657=)
c.1983C>G (p.Thr661=)
c.1506C>G (p.Thr502=)
n.2270C>G
11g.94435852G=CA1992426079MRE11c.1974C= (p.Thr658=)
c.1890C= (p.Thr630=)
c.1971C= (p.Thr657=)
c.1983C= (p.Thr661=)
c.1506C= (p.Thr502=)
n.2270C=
11g.94435852G>TCA476287113MRE11c.1974C>A (p.Thr658=)
c.1890C>A (p.Thr630=)
c.1971C>A (p.Thr657=)
c.1983C>A (p.Thr661=)
c.1506C>A (p.Thr502=)
n.2270C>A
 gnomAD v4
11g.94435853G>ACA382374060MRE11c.1973C>T (p.Thr658Ile)
c.1889C>T (p.Thr630Ile)
c.1970C>T (p.Thr657Ile)
c.1982C>T (p.Thr661Ile)
c.1505C>T (p.Thr502Ile)
n.2269C>T
11g.94435853G>CCA382374058MRE11c.1973C>G (p.Thr658Ser)
c.1889C>G (p.Thr630Ser)
c.1970C>G (p.Thr657Ser)
c.1982C>G (p.Thr661Ser)
c.1505C>G (p.Thr502Ser)
n.2269C>G
11g.94435853G>TCA382374059MRE11c.1973C>A (p.Thr658Asn)
c.1889C>A (p.Thr630Asn)
c.1970C>A (p.Thr657Asn)
c.1982C>A (p.Thr661Asn)
c.1505C>A (p.Thr502Asn)
n.2269C>A
11g.94435854T>ACA382374061MRE11c.1972A>T (p.Thr658Ser)
c.1888A>T (p.Thr630Ser)
c.1969A>T (p.Thr657Ser)
c.1981A>T (p.Thr661Ser)
c.1504A>T (p.Thr502Ser)
n.2268A>T
11g.94435854T>CCA169543MRE11c.1972A>G (p.Thr658Ala)
c.1888A>G (p.Thr630Ala)
c.1969A>G (p.Thr657Ala)
c.1981A>G (p.Thr661Ala)
c.1504A>G (p.Thr502Ala)
n.2268A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94435854T>GCA382374062MRE11c.1972A>C (p.Thr658Pro)
c.1888A>C (p.Thr630Pro)
c.1969A>C (p.Thr657Pro)
c.1981A>C (p.Thr661Pro)
c.1504A>C (p.Thr502Pro)
n.2268A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94435854T=CA1992426093MRE11c.1972A= (p.Thr658=)
c.1888A= (p.Thr630=)
c.1969A= (p.Thr657=)
c.1981A= (p.Thr661=)
c.1504A= (p.Thr502=)
n.2268A=
11g.94435855A>CCA476287114MRE11c.1971T>G (p.Pro657=)
c.1887T>G (p.Pro629=)
c.1968T>G (p.Pro656=)
c.1980T>G (p.Pro660=)
c.1503T>G (p.Pro501=)
n.2267T>G
11g.94435855A>GCA476287116MRE11c.1971T>C (p.Pro657=)
c.1887T>C (p.Pro629=)
c.1968T>C (p.Pro656=)
c.1980T>C (p.Pro660=)
c.1503T>C (p.Pro501=)
n.2267T>C
 ClinVar
11g.94435855A>TCA476287115MRE11c.1971T>A (p.Pro657=)
c.1887T>A (p.Pro629=)
c.1968T>A (p.Pro656=)
c.1980T>A (p.Pro660=)
c.1503T>A (p.Pro501=)
n.2267T>A
11g.94435856G>ACA382374063MRE11c.1970C>T (p.Pro657Leu)
c.1886C>T (p.Pro629Leu)
c.1967C>T (p.Pro656Leu)
c.1979C>T (p.Pro660Leu)
c.1502C>T (p.Pro501Leu)
n.2266C>T
 ClinVar dbSNP
11g.94435856G>CCA382374064MRE11c.1970C>G (p.Pro657Arg)
c.1886C>G (p.Pro629Arg)
c.1967C>G (p.Pro656Arg)
c.1979C>G (p.Pro660Arg)
c.1502C>G (p.Pro501Arg)
n.2266C>G
11g.94435856G=CA1992426104MRE11c.1970C= (p.Pro657=)
c.1886C= (p.Pro629=)
c.1967C= (p.Pro656=)
c.1979C= (p.Pro660=)
c.1502C= (p.Pro501=)
n.2266C=
11g.94435856G>TCA382374065MRE11c.1970C>A (p.Pro657His)
c.1886C>A (p.Pro629His)
c.1967C>A (p.Pro656His)
c.1979C>A (p.Pro660His)
c.1502C>A (p.Pro501His)
n.2266C>A
11g.94435857G>ACA382374066MRE11c.1969C>T (p.Pro657Ser)
c.1885C>T (p.Pro629Ser)
c.1966C>T (p.Pro656Ser)
c.1978C>T (p.Pro660Ser)
c.1501C>T (p.Pro501Ser)
n.2265C>T
11g.94435857G>CCA382374067MRE11c.1969C>G (p.Pro657Ala)
c.1885C>G (p.Pro629Ala)
c.1966C>G (p.Pro656Ala)
c.1978C>G (p.Pro660Ala)
c.1501C>G (p.Pro501Ala)
n.2265C>G
11g.94435857G=CA1992426106MRE11c.1969C= (p.Pro657=)
c.1885C= (p.Pro629=)
c.1966C= (p.Pro656=)
c.1978C= (p.Pro660=)
c.1501C= (p.Pro501=)
n.2265C=
11g.94435857G>TCA382374068MRE11c.1969C>A (p.Pro657Thr)
c.1885C>A (p.Pro629Thr)
c.1966C>A (p.Pro656Thr)
c.1978C>A (p.Pro660Thr)
c.1501C>A (p.Pro501Thr)
n.2265C>A
11g.94435858A>CCA382374069MRE11c.1968T>G (p.Phe656Leu)
c.1884T>G (p.Phe628Leu)
c.1965T>G (p.Phe655Leu)
c.1977T>G (p.Phe659Leu)
c.1500T>G (p.Phe500Leu)
n.2264T>G
11g.94435858A>GCA476287120MRE11c.1968T>C (p.Phe656=)
c.1884T>C (p.Phe628=)
c.1965T>C (p.Phe655=)
c.1977T>C (p.Phe659=)
c.1500T>C (p.Phe500=)
n.2264T>C
11g.94435858A>TCA382374070MRE11c.1968T>A (p.Phe656Leu)
c.1884T>A (p.Phe628Leu)
c.1965T>A (p.Phe655Leu)
c.1977T>A (p.Phe659Leu)
c.1500T>A (p.Phe500Leu)
n.2264T>A
11g.94435862dupCA682015830MRE11c.1968dup (p.Pro657SerfsTer29)
c.1884dup (p.Pro629SerfsTer29)
c.1965dup (p.Pro656SerfsTer29)
c.1977dup (p.Pro660SerfsTer29)
c.1500dup (p.Pro501SerfsTer29)
n.2264dup
 dbSNP
11g.94435862delCA2724625821MRE11c.1968del (p.Pro657LeufsTer?)
c.1884del (p.Pro629LeufsTer?)
c.1965del (p.Pro656LeufsTer?)
c.1977del (p.Pro660LeufsTer?)
c.1500del (p.Pro501LeufsTer?)
n.2264del
 dbSNP
11g.94435859A=CA1992426113MRE11c.1967T= (p.Phe656=)
c.1883T= (p.Phe628=)
c.1964T= (p.Phe655=)
c.1976T= (p.Phe659=)
c.1499T= (p.Phe500=)
n.2263T=
11g.94435859A>CCA382374072MRE11c.1967T>G (p.Phe656Cys)
c.1883T>G (p.Phe628Cys)
c.1964T>G (p.Phe655Cys)
c.1976T>G (p.Phe659Cys)
c.1499T>G (p.Phe500Cys)
n.2263T>G
11g.94435859A>GCA382374073MRE11c.1967T>C (p.Phe656Ser)
c.1883T>C (p.Phe628Ser)
c.1964T>C (p.Phe655Ser)
c.1976T>C (p.Phe659Ser)
c.1499T>C (p.Phe500Ser)
n.2263T>C
 ClinVar dbSNP
11g.94435859A>TCA382374071MRE11c.1967T>A (p.Phe656Tyr)
c.1883T>A (p.Phe628Tyr)
c.1964T>A (p.Phe655Tyr)
c.1976T>A (p.Phe659Tyr)
c.1499T>A (p.Phe500Tyr)
n.2263T>A
11g.94435860A>CCA382374076MRE11c.1966T>G (p.Phe656Val)
c.1882T>G (p.Phe628Val)
c.1963T>G (p.Phe655Val)
c.1975T>G (p.Phe659Val)
c.1498T>G (p.Phe500Val)
n.2262T>G
11g.94435860A>GCA382374074MRE11c.1966T>C (p.Phe656Leu)
c.1882T>C (p.Phe628Leu)
c.1963T>C (p.Phe655Leu)
c.1975T>C (p.Phe659Leu)
c.1498T>C (p.Phe500Leu)
n.2262T>C
11g.94435860A>TCA382374075MRE11c.1966T>A (p.Phe656Ile)
c.1882T>A (p.Phe628Ile)
c.1963T>A (p.Phe655Ile)
c.1975T>A (p.Phe659Ile)
c.1498T>A (p.Phe500Ile)
n.2262T>A
11g.94435861A=CA1992426123MRE11c.1965T= (p.Ile655=)
c.1881T= (p.Ile627=)
c.1962T= (p.Ile654=)
c.1974T= (p.Ile658=)
c.1497T= (p.Ile499=)
n.2261T=
11g.94435861A>CCA6234940MRE11c.1965T>G (p.Ile655Met)
c.1881T>G (p.Ile627Met)
c.1962T>G (p.Ile654Met)
c.1974T>G (p.Ile658Met)
c.1497T>G (p.Ile499Met)
n.2261T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94435861A>GCA476287124MRE11c.1965T>C (p.Ile655=)
c.1881T>C (p.Ile627=)
c.1962T>C (p.Ile654=)
c.1974T>C (p.Ile658=)
c.1497T>C (p.Ile499=)
n.2261T>C
 ClinVar dbSNP gnomAD v4
11g.94435861A>TCA476287125MRE11c.1965T>A (p.Ile655=)
c.1881T>A (p.Ile627=)
c.1962T>A (p.Ile654=)
c.1974T>A (p.Ile658=)
c.1497T>A (p.Ile499=)
n.2261T>A
11g.94435862A>CCA382374077MRE11c.1964T>G (p.Ile655Ser)
c.1880T>G (p.Ile627Ser)
c.1961T>G (p.Ile654Ser)
c.1973T>G (p.Ile658Ser)
c.1496T>G (p.Ile499Ser)
n.2260T>G
11g.94435862A>GCA382374078MRE11c.1964T>C (p.Ile655Thr)
c.1880T>C (p.Ile627Thr)
c.1961T>C (p.Ile654Thr)
c.1973T>C (p.Ile658Thr)
c.1496T>C (p.Ile499Thr)
n.2260T>C
 gnomAD v4
11g.94435862A>TCA382374079MRE11c.1964T>A (p.Ile655Asn)
c.1880T>A (p.Ile627Asn)
c.1961T>A (p.Ile654Asn)
c.1973T>A (p.Ile658Asn)
c.1496T>A (p.Ile499Asn)
n.2260T>A
11g.94435863T>ACA382374081MRE11c.1963A>T (p.Ile655Phe)
c.1879A>T (p.Ile627Phe)
c.1960A>T (p.Ile654Phe)
c.1972A>T (p.Ile658Phe)
c.1495A>T (p.Ile499Phe)
n.2259A>T
 ClinVar gnomAD v4
11g.94435863T>CCA6234941MRE11c.1963A>G (p.Ile655Val)
c.1879A>G (p.Ile627Val)
c.1960A>G (p.Ile654Val)
c.1972A>G (p.Ile658Val)
c.1495A>G (p.Ile499Val)
n.2259A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94435863T>GCA382374080MRE11c.1963A>C (p.Ile655Leu)
c.1879A>C (p.Ile627Leu)
c.1960A>C (p.Ile654Leu)
c.1972A>C (p.Ile658Leu)
c.1495A>C (p.Ile499Leu)
n.2259A>C
11g.94435863T=CA1992426128MRE11c.1963A= (p.Ile655=)
c.1879A= (p.Ile627=)
c.1960A= (p.Ile654=)
c.1972A= (p.Ile658=)
c.1495A= (p.Ile499=)
n.2259A=
11g.94435864G>ACA476287128MRE11c.1962C>T (p.Asp654=)
c.1878C>T (p.Asp626=)
c.1959C>T (p.Asp653=)
c.1971C>T (p.Asp657=)
c.1494C>T (p.Asp498=)
n.2258C>T
 gnomAD v4
11g.94435864G>CCA382374082MRE11c.1962C>G (p.Asp654Glu)
c.1878C>G (p.Asp626Glu)
c.1959C>G (p.Asp653Glu)
c.1971C>G (p.Asp657Glu)
c.1494C>G (p.Asp498Glu)
n.2258C>G
11g.94435864G>TCA382374083MRE11c.1962C>A (p.Asp654Glu)
c.1878C>A (p.Asp626Glu)
c.1959C>A (p.Asp653Glu)
c.1971C>A (p.Asp657Glu)
c.1494C>A (p.Asp498Glu)
n.2258C>A
11g.94435864_94435867delinsGTCTCA1992426132MRE11c.1959_1962delinsAGAC (p.Glu653=)
c.1875_1878delinsAGAC (p.Glu625=)
c.1956_1959delinsAGAC (p.Glu652=)
c.1968_1971delinsAGAC (p.Glu656=)
c.1491_1494delinsAGAC (p.Glu497=)
n.2255_2258delinsAGAC
11g.94435865T>ACA382374084MRE11c.1961A>T (p.Asp654Val)
c.1877A>T (p.Asp626Val)
c.1958A>T (p.Asp653Val)
c.1970A>T (p.Asp657Val)
c.1493A>T (p.Asp498Val)
n.2257A>T
11g.94435865T>CCA382374085MRE11c.1961A>G (p.Asp654Gly)
c.1877A>G (p.Asp626Gly)
c.1958A>G (p.Asp653Gly)
c.1970A>G (p.Asp657Gly)
c.1493A>G (p.Asp498Gly)
n.2257A>G
 dbSNP gnomAD v2 gnomAD v4
11g.94435865T>GCA382374086MRE11c.1961A>C (p.Asp654Ala)
c.1877A>C (p.Asp626Ala)
c.1958A>C (p.Asp653Ala)
c.1970A>C (p.Asp657Ala)
c.1493A>C (p.Asp498Ala)
n.2257A>C
11g.94435865T=CA1992426136MRE11c.1961A= (p.Asp654=)
c.1877A= (p.Asp626=)
c.1958A= (p.Asp653=)
c.1970A= (p.Asp657=)
c.1493A= (p.Asp498=)
n.2257A=
11g.94435870_94435872delCA1992426134MRE11c.1959_1961del (p.Glu653del)
c.1875_1877del (p.Glu625del)
c.1956_1958del (p.Glu652del)
c.1968_1970del (p.Glu656del)
c.1491_1493del (p.Glu497del)
n.2255_2257del
 dbSNP
11g.94435866C>ACA382374087MRE11c.1960G>T (p.Asp654Tyr)
c.1876G>T (p.Asp626Tyr)
c.1957G>T (p.Asp653Tyr)
c.1969G>T (p.Asp657Tyr)
c.1492G>T (p.Asp498Tyr)
n.2256G>T
 ClinVar dbSNP gnomAD v2
11g.94435866C=CA1992426141MRE11c.1960G= (p.Asp654=)
c.1876G= (p.Asp626=)
c.1957G= (p.Asp653=)
c.1969G= (p.Asp657=)
c.1492G= (p.Asp498=)
n.2256G=
11g.94435866C>GCA382374089MRE11c.1960G>C (p.Asp654His)
c.1876G>C (p.Asp626His)
c.1957G>C (p.Asp653His)
c.1969G>C (p.Asp657His)
c.1492G>C (p.Asp498His)
n.2256G>C
 ClinVar dbSNP
11g.94435866C>TCA382374088MRE11c.1960G>A (p.Asp654Asn)
c.1876G>A (p.Asp626Asn)
c.1957G>A (p.Asp653Asn)
c.1969G>A (p.Asp657Asn)
c.1492G>A (p.Asp498Asn)
n.2256G>A
 ClinVar
11g.94435867T>ACA382374090MRE11c.1959A>T (p.Glu653Asp)
c.1875A>T (p.Glu625Asp)
c.1956A>T (p.Glu652Asp)
c.1968A>T (p.Glu656Asp)
c.1491A>T (p.Glu497Asp)
n.2255A>T
11g.94435867T>CCA476287131MRE11c.1959A>G (p.Glu653=)
c.1875A>G (p.Glu625=)
c.1956A>G (p.Glu652=)
c.1968A>G (p.Glu656=)
c.1491A>G (p.Glu497=)
n.2255A>G
11g.94435867T>GCA382374091MRE11c.1959A>C (p.Glu653Asp)
c.1875A>C (p.Glu625Asp)
c.1956A>C (p.Glu652Asp)
c.1968A>C (p.Glu656Asp)
c.1491A>C (p.Glu497Asp)
n.2255A>C
11g.94435868T>ACA382374092MRE11c.1958A>T (p.Glu653Val)
c.1874A>T (p.Glu625Val)
c.1955A>T (p.Glu652Val)
c.1967A>T (p.Glu656Val)
c.1490A>T (p.Glu497Val)
n.2254A>T
11g.94435868T>CCA382374093MRE11c.1958A>G (p.Glu653Gly)
c.1874A>G (p.Glu625Gly)
c.1955A>G (p.Glu652Gly)
c.1967A>G (p.Glu656Gly)
c.1490A>G (p.Glu497Gly)
n.2254A>G
11g.94435868T>GCA382374094MRE11c.1958A>C (p.Glu653Ala)
c.1874A>C (p.Glu625Ala)
c.1955A>C (p.Glu652Ala)
c.1967A>C (p.Glu656Ala)
c.1490A>C (p.Glu497Ala)
n.2254A>C
11g.94435869C>ACA382374095MRE11c.1957G>T (p.Glu653Ter)
c.1873G>T (p.Glu625Ter)
c.1954G>T (p.Glu652Ter)
c.1966G>T (p.Glu656Ter)
c.1489G>T (p.Glu497Ter)
n.2253G>T
 ClinVar
11g.94435869C>GCA382374096MRE11c.1957G>C (p.Glu653Gln)
c.1873G>C (p.Glu625Gln)
c.1954G>C (p.Glu652Gln)
c.1966G>C (p.Glu656Gln)
c.1489G>C (p.Glu497Gln)
n.2253G>C
11g.94435869C>TCA382374097MRE11c.1957G>A (p.Glu653Lys)
c.1873G>A (p.Glu625Lys)
c.1954G>A (p.Glu652Lys)
c.1966G>A (p.Glu656Lys)
c.1489G>A (p.Glu497Lys)
n.2253G>A
11g.94435870T>ACA382374098MRE11c.1956A>T (p.Glu652Asp)
c.1872A>T (p.Glu624Asp)
c.1953A>T (p.Glu651Asp)
c.1965A>T (p.Glu655Asp)
c.1488A>T (p.Glu496Asp)
n.2252A>T
11g.94435870T>CCA476287134MRE11c.1956A>G (p.Glu652=)
c.1872A>G (p.Glu624=)
c.1953A>G (p.Glu651=)
c.1965A>G (p.Glu655=)
c.1488A>G (p.Glu496=)
n.2252A>G
 ClinVar dbSNP
11g.94435870T>GCA382374099MRE11c.1956A>C (p.Glu652Asp)
c.1872A>C (p.Glu624Asp)
c.1953A>C (p.Glu651Asp)
c.1965A>C (p.Glu655Asp)
c.1488A>C (p.Glu496Asp)
n.2252A>C
11g.94435870T=CA1992426148MRE11c.1956A= (p.Glu652=)
c.1872A= (p.Glu624=)
c.1953A= (p.Glu651=)
c.1965A= (p.Glu655=)
c.1488A= (p.Glu496=)
n.2252A=
11g.94435871T>ACA382374102MRE11c.1955A>T (p.Glu652Val)
c.1871A>T (p.Glu624Val)
c.1952A>T (p.Glu651Val)
c.1964A>T (p.Glu655Val)
c.1487A>T (p.Glu496Val)
n.2251A>T
11g.94435871T>CCA382374101MRE11c.1955A>G (p.Glu652Gly)
c.1871A>G (p.Glu624Gly)
c.1952A>G (p.Glu651Gly)
c.1964A>G (p.Glu655Gly)
c.1487A>G (p.Glu496Gly)
n.2251A>G
11g.94435871T>GCA382374100MRE11c.1955A>C (p.Glu652Ala)
c.1871A>C (p.Glu624Ala)
c.1952A>C (p.Glu651Ala)
c.1964A>C (p.Glu655Ala)
c.1487A>C (p.Glu496Ala)
n.2251A>C
11g.94435871_94435872delinsTCCA1992426151MRE11c.1954_1955delinsGA (p.Glu652=)
c.1870_1871delinsGA (p.Glu624=)
c.1951_1952delinsGA (p.Glu651=)
c.1963_1964delinsGA (p.Glu655=)
c.1486_1487delinsGA (p.Glu496=)
n.2250_2251delinsGA
11g.94435872C>ACA382374103MRE11c.1954G>T (p.Glu652Ter)
c.1870G>T (p.Glu624Ter)
c.1951G>T (p.Glu651Ter)
c.1963G>T (p.Glu655Ter)
c.1486G>T (p.Glu496Ter)
n.2250G>T
 COSMIC COSMIC
11g.94435872C>GCA382374104MRE11c.1954G>C (p.Glu652Gln)
c.1870G>C (p.Glu624Gln)
c.1951G>C (p.Glu651Gln)
c.1963G>C (p.Glu655Gln)
c.1486G>C (p.Glu496Gln)
n.2250G>C
11g.94435872C>TCA382374105MRE11c.1954G>A (p.Glu652Lys)
c.1870G>A (p.Glu624Lys)
c.1951G>A (p.Glu651Lys)
c.1963G>A (p.Glu655Lys)
c.1486G>A (p.Glu496Lys)
n.2250G>A
 gnomAD v4 COSMIC COSMIC
11g.94435873delCA682015902MRE11c.1954del (p.Glu652LysfsTer?)
c.1870del (p.Glu624LysfsTer?)
c.1951del (p.Glu651LysfsTer?)
c.1963del (p.Glu655LysfsTer?)
c.1486del (p.Glu496LysfsTer?)
n.2250del
 dbSNP
11g.94435873C>ACA476287138MRE11c.1953G>T (p.Val651=)
c.1869G>T (p.Val623=)
c.1950G>T (p.Val650=)
c.1962G>T (p.Val654=)
c.1485G>T (p.Val495=)
n.2249G>T
11g.94435873C>GCA476287139MRE11c.1953G>C (p.Val651=)
c.1869G>C (p.Val623=)
c.1950G>C (p.Val650=)
c.1962G>C (p.Val654=)
c.1485G>C (p.Val495=)
n.2249G>C
11g.94435873C>TCA476287140MRE11c.1953G>A (p.Val651=)
c.1869G>A (p.Val623=)
c.1950G>A (p.Val650=)
c.1962G>A (p.Val654=)
c.1485G>A (p.Val495=)
n.2249G>A
 ClinVar dbSNP
11g.94435874A=CA1992426155MRE11c.1952T= (p.Val651=)
c.1868T= (p.Val623=)
c.1949T= (p.Val650=)
c.1961T= (p.Val654=)
c.1484T= (p.Val495=)
n.2248T=
11g.94435874A>CCA382374106MRE11c.1952T>G (p.Val651Gly)
c.1868T>G (p.Val623Gly)
c.1949T>G (p.Val650Gly)
c.1961T>G (p.Val654Gly)
c.1484T>G (p.Val495Gly)
n.2248T>G
11g.94435874A>GCA382374107MRE11c.1952T>C (p.Val651Ala)
c.1868T>C (p.Val623Ala)
c.1949T>C (p.Val650Ala)
c.1961T>C (p.Val654Ala)
c.1484T>C (p.Val495Ala)
n.2248T>C
11g.94435874A>TCA10579359MRE11c.1952T>A (p.Val651Glu)
c.1868T>A (p.Val623Glu)
c.1949T>A (p.Val650Glu)
c.1961T>A (p.Val654Glu)
c.1484T>A (p.Val495Glu)
n.2248T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94435875C>ACA382374110MRE11c.1951G>T (p.Val651Leu)
c.1867G>T (p.Val623Leu)
c.1948G>T (p.Val650Leu)
c.1960G>T (p.Val654Leu)
c.1483G>T (p.Val495Leu)
n.2247G>T
11g.94435875C=CA1992426158MRE11c.1951G= (p.Val651=)
c.1867G= (p.Val623=)
c.1948G= (p.Val650=)
c.1960G= (p.Val654=)
c.1483G= (p.Val495=)
n.2247G=
11g.94435875C>GCA382374108MRE11c.1951G>C (p.Val651Leu)
c.1867G>C (p.Val623Leu)
c.1948G>C (p.Val650Leu)
c.1960G>C (p.Val654Leu)
c.1483G>C (p.Val495Leu)
n.2247G>C
11g.94435875C>TCA382374109MRE11c.1951G>A (p.Val651Met)
c.1867G>A (p.Val623Met)
c.1948G>A (p.Val650Met)
c.1960G>A (p.Val654Met)
c.1483G>A (p.Val495Met)
n.2247G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.94435876A>CCA382374111MRE11c.1950T>G (p.Asp650Glu)
c.1866T>G (p.Asp622Glu)
c.1947T>G (p.Asp649Glu)
c.1959T>G (p.Asp653Glu)
c.1482T>G (p.Asp494Glu)
n.2246T>G
11g.94435876A>GCA476287143MRE11c.1950T>C (p.Asp650=)
c.1866T>C (p.Asp622=)
c.1947T>C (p.Asp649=)
c.1959T>C (p.Asp653=)
c.1482T>C (p.Asp494=)
n.2246T>C
 ClinVar
11g.94435876A>TCA382374112MRE11c.1950T>A (p.Asp650Glu)
c.1866T>A (p.Asp622Glu)
c.1947T>A (p.Asp649Glu)
c.1959T>A (p.Asp653Glu)
c.1482T>A (p.Asp494Glu)
n.2246T>A
11g.94435877T>ACA382374113MRE11c.1949A>T (p.Asp650Val)
c.1865A>T (p.Asp622Val)
c.1946A>T (p.Asp649Val)
c.1958A>T (p.Asp653Val)
c.1481A>T (p.Asp494Val)
n.2245A>T
11g.94435877T>CCA382374114MRE11c.1949A>G (p.Asp650Gly)
c.1865A>G (p.Asp622Gly)
c.1946A>G (p.Asp649Gly)
c.1958A>G (p.Asp653Gly)
c.1481A>G (p.Asp494Gly)
n.2245A>G
11g.94435877T>GCA382374115MRE11c.1949A>C (p.Asp650Ala)
c.1865A>C (p.Asp622Ala)
c.1946A>C (p.Asp649Ala)
c.1958A>C (p.Asp653Ala)
c.1481A>C (p.Asp494Ala)
n.2245A>C
 gnomAD v4
11g.94435878C>ACA382374116MRE11c.1948G>T (p.Asp650Tyr)
c.1864G>T (p.Asp622Tyr)
c.1945G>T (p.Asp649Tyr)
c.1957G>T (p.Asp653Tyr)
c.1480G>T (p.Asp494Tyr)
n.2244G>T
11g.94435878C=CA1992426161MRE11c.1948G= (p.Asp650=)
c.1864G= (p.Asp622=)
c.1945G= (p.Asp649=)
c.1957G= (p.Asp653=)
c.1480G= (p.Asp494=)
n.2244G=
11g.94435878C>GCA382374118MRE11c.1948G>C (p.Asp650His)
c.1864G>C (p.Asp622His)
c.1945G>C (p.Asp649His)
c.1957G>C (p.Asp653His)
c.1480G>C (p.Asp494His)
n.2244G>C
 ClinVar dbSNP gnomAD v4
11g.94435878C>TCA382374117MRE11c.1948G>A (p.Asp650Asn)
c.1864G>A (p.Asp622Asn)
c.1945G>A (p.Asp649Asn)
c.1957G>A (p.Asp653Asn)
c.1480G>A (p.Asp494Asn)
n.2244G>A
11g.94435879T>ACA476287144MRE11c.1947A>T (p.Ser649=)
c.1863A>T (p.Ser621=)
c.1944A>T (p.Ser648=)
c.1956A>T (p.Ser652=)
c.1479A>T (p.Ser493=)
n.2243A>T
11g.94435879T>CCA476287145MRE11c.1947A>G (p.Ser649=)
c.1863A>G (p.Ser621=)
c.1944A>G (p.Ser648=)
c.1956A>G (p.Ser652=)
c.1479A>G (p.Ser493=)
n.2243A>G
11g.94435879T>GCA476287146MRE11c.1947A>C (p.Ser649=)
c.1863A>C (p.Ser621=)
c.1944A>C (p.Ser648=)
c.1956A>C (p.Ser652=)
c.1479A>C (p.Ser493=)
n.2243A>C
11g.94435880G>ACA382374119MRE11c.1946C>T (p.Ser649Leu)
c.1862C>T (p.Ser621Leu)
c.1943C>T (p.Ser648Leu)
c.1955C>T (p.Ser652Leu)
c.1478C>T (p.Ser493Leu)
n.2242C>T
 ClinVar dbSNP gnomAD v4
11g.94435880G>CCA382374120MRE11c.1946C>G (p.Ser649Ter)
c.1862C>G (p.Ser621Ter)
c.1943C>G (p.Ser648Ter)
c.1955C>G (p.Ser652Ter)
c.1478C>G (p.Ser493Ter)
n.2242C>G
11g.94435880G=CA1992426164MRE11c.1946C= (p.Ser649=)
c.1862C= (p.Ser621=)
c.1943C= (p.Ser648=)
c.1955C= (p.Ser652=)
c.1478C= (p.Ser493=)
n.2242C=
11g.94435880G>TCA382374121MRE11c.1946C>A (p.Ser649Ter)
c.1862C>A (p.Ser621Ter)
c.1943C>A (p.Ser648Ter)
c.1955C>A (p.Ser652Ter)
c.1478C>A (p.Ser493Ter)
n.2242C>A
11g.94435880_94435891delCA2615598567MRE11c.1935_1946del (p.Val646_Ser649del)
c.1851_1862del (p.Val618_Ser621del)
c.1932_1943del (p.Val645_Ser648del)
c.1944_1955del (p.Val649_Ser652del)
c.1467_1478del (p.Val490_Ser493del)
n.2231_2242del
 gnomAD v4
11g.94435881A>CCA382374122MRE11c.1945T>G (p.Ser649Ala)
c.1861T>G (p.Ser621Ala)
c.1942T>G (p.Ser648Ala)
c.1954T>G (p.Ser652Ala)
c.1477T>G (p.Ser493Ala)
n.2241T>G
11g.94435881A>GCA382374123MRE11c.1945T>C (p.Ser649Pro)
c.1861T>C (p.Ser621Pro)
c.1942T>C (p.Ser648Pro)
c.1954T>C (p.Ser652Pro)
c.1477T>C (p.Ser493Pro)
n.2241T>C
11g.94435881A>TCA382374124MRE11c.1945T>A (p.Ser649Thr)
c.1861T>A (p.Ser621Thr)
c.1942T>A (p.Ser648Thr)
c.1954T>A (p.Ser652Thr)
c.1477T>A (p.Ser493Thr)
n.2241T>A
11g.94435882T>ACA382374125MRE11c.1944A>T (p.Glu648Asp)
c.1860A>T (p.Glu620Asp)
c.1941A>T (p.Glu647Asp)
c.1953A>T (p.Glu651Asp)
c.1476A>T (p.Glu492Asp)
n.2240A>T
 gnomAD v4
11g.94435882T>CCA476287150MRE11c.1944A>G (p.Glu648=)
c.1860A>G (p.Glu620=)
c.1941A>G (p.Glu647=)
c.1953A>G (p.Glu651=)
c.1476A>G (p.Glu492=)
n.2240A>G
11g.94435882T>GCA382374126MRE11c.1944A>C (p.Glu648Asp)
c.1860A>C (p.Glu620Asp)
c.1941A>C (p.Glu647Asp)
c.1953A>C (p.Glu651Asp)
c.1476A>C (p.Glu492Asp)
n.2240A>C
11g.94435883T>ACA382374127MRE11c.1943A>T (p.Glu648Val)
c.1859A>T (p.Glu620Val)
c.1940A>T (p.Glu647Val)
c.1952A>T (p.Glu651Val)
c.1475A>T (p.Glu492Val)
n.2239A>T
11g.94435883T>CCA382374128MRE11c.1943A>G (p.Glu648Gly)
c.1859A>G (p.Glu620Gly)
c.1940A>G (p.Glu647Gly)
c.1952A>G (p.Glu651Gly)
c.1475A>G (p.Glu492Gly)
n.2239A>G
 gnomAD v4
11g.94435883T>GCA382374129MRE11c.1943A>C (p.Glu648Ala)
c.1859A>C (p.Glu620Ala)
c.1940A>C (p.Glu647Ala)
c.1952A>C (p.Glu651Ala)
c.1475A>C (p.Glu492Ala)
n.2239A>C
 dbSNP
11g.94435884C>ACA382374132MRE11c.1942G>T (p.Glu648Ter)
c.1858G>T (p.Glu620Ter)
c.1939G>T (p.Glu647Ter)
c.1951G>T (p.Glu651Ter)
c.1474G>T (p.Glu492Ter)
n.2238G>T
11g.94435884C>GCA382374131MRE11c.1942G>C (p.Glu648Gln)
c.1858G>C (p.Glu620Gln)
c.1939G>C (p.Glu647Gln)
c.1951G>C (p.Glu651Gln)
c.1474G>C (p.Glu492Gln)
n.2238G>C
 gnomAD v4
11g.94435884C>TCA382374130MRE11c.1942G>A (p.Glu648Lys)
c.1858G>A (p.Glu620Lys)
c.1939G>A (p.Glu647Lys)
c.1951G>A (p.Glu651Lys)
c.1474G>A (p.Glu492Lys)
n.2238G>A
11g.94435885A>CCA382374133MRE11c.1941T>G (p.Asp647Glu)
c.1857T>G (p.Asp619Glu)
c.1938T>G (p.Asp646Glu)
c.1950T>G (p.Asp650Glu)
c.1473T>G (p.Asp491Glu)
n.2237T>G
11g.94435885A>GCA476287152MRE11c.1941T>C (p.Asp647=)
c.1857T>C (p.Asp619=)
c.1938T>C (p.Asp646=)
c.1950T>C (p.Asp650=)
c.1473T>C (p.Asp491=)
n.2237T>C
11g.94435885A>TCA382374134MRE11c.1941T>A (p.Asp647Glu)
c.1857T>A (p.Asp619Glu)
c.1938T>A (p.Asp646Glu)
c.1950T>A (p.Asp650Glu)
c.1473T>A (p.Asp491Glu)
n.2237T>A
 dbSNP
11g.94435886T>ACA382374135MRE11c.1940A>T (p.Asp647Val)
c.1856A>T (p.Asp619Val)
c.1937A>T (p.Asp646Val)
c.1949A>T (p.Asp650Val)
c.1472A>T (p.Asp491Val)
n.2236A>T
11g.94435886T>CCA382374137MRE11c.1940A>G (p.Asp647Gly)
c.1856A>G (p.Asp619Gly)
c.1937A>G (p.Asp646Gly)
c.1949A>G (p.Asp650Gly)
c.1472A>G (p.Asp491Gly)
n.2236A>G
 ClinVar dbSNP gnomAD v4
11g.94435886T>GCA382374136MRE11c.1940A>C (p.Asp647Ala)
c.1856A>C (p.Asp619Ala)
c.1937A>C (p.Asp646Ala)
c.1949A>C (p.Asp650Ala)
c.1472A>C (p.Asp491Ala)
n.2236A>C
11g.94435886T=CA1992426167MRE11c.1940A= (p.Asp647=)
c.1856A= (p.Asp619=)
c.1937A= (p.Asp646=)
c.1949A= (p.Asp650=)
c.1472A= (p.Asp491=)
n.2236A=
11g.94435887C>ACA382374138MRE11c.1939G>T (p.Asp647Tyr)
c.1855G>T (p.Asp619Tyr)
c.1936G>T (p.Asp646Tyr)
c.1948G>T (p.Asp650Tyr)
c.1471G>T (p.Asp491Tyr)
n.2235G>T
11g.94435887C>GCA382374139MRE11c.1939G>C (p.Asp647His)
c.1855G>C (p.Asp619His)
c.1936G>C (p.Asp646His)
c.1948G>C (p.Asp650His)
c.1471G>C (p.Asp491His)
n.2235G>C
11g.94435887C>TCA382374140MRE11c.1939G>A (p.Asp647Asn)
c.1855G>A (p.Asp619Asn)
c.1936G>A (p.Asp646Asn)
c.1948G>A (p.Asp650Asn)
c.1471G>A (p.Asp491Asn)
n.2235G>A
11g.94435888T>ACA476287156MRE11c.1938A>T (p.Val646=)
c.1854A>T (p.Val618=)
c.1935A>T (p.Val645=)
c.1947A>T (p.Val649=)
c.1470A>T (p.Val490=)
n.2234A>T
11g.94435888T>CCA476287157MRE11c.1938A>G (p.Val646=)
c.1854A>G (p.Val618=)
c.1935A>G (p.Val645=)
c.1947A>G (p.Val649=)
c.1470A>G (p.Val490=)
n.2234A>G
 gnomAD v4
11g.94435888T>GCA476287158MRE11c.1938A>C (p.Val646=)
c.1854A>C (p.Val618=)
c.1935A>C (p.Val645=)
c.1947A>C (p.Val649=)
c.1470A>C (p.Val490=)
n.2234A>C
11g.94435889A=CA1992426172MRE11c.1937T= (p.Val646=)
c.1853T= (p.Val618=)
c.1934T= (p.Val645=)
c.1946T= (p.Val649=)
c.1469T= (p.Val490=)
n.2233T=
11g.94435889A>CCA382374141MRE11c.1937T>G (p.Val646Gly)
c.1853T>G (p.Val618Gly)
c.1934T>G (p.Val645Gly)
c.1946T>G (p.Val649Gly)
c.1469T>G (p.Val490Gly)
n.2233T>G
 ClinVar dbSNP
11g.94435889A>GCA382374142MRE11c.1937T>C (p.Val646Ala)
c.1853T>C (p.Val618Ala)
c.1934T>C (p.Val645Ala)
c.1946T>C (p.Val649Ala)
c.1469T>C (p.Val490Ala)
n.2233T>C
 ClinVar dbSNP gnomAD v4
11g.94435889A>TCA382374143MRE11c.1937T>A (p.Val646Glu)
c.1853T>A (p.Val618Glu)
c.1934T>A (p.Val645Glu)
c.1946T>A (p.Val649Glu)
c.1469T>A (p.Val490Glu)
n.2233T>A
11g.94435890C>ACA382374144MRE11c.1936G>T (p.Val646Leu)
c.1852G>T (p.Val618Leu)
c.1933G>T (p.Val645Leu)
c.1945G>T (p.Val649Leu)
c.1468G>T (p.Val490Leu)
n.2232G>T
11g.94435890C=CA1992426178MRE11c.1936G= (p.Val646=)
c.1852G= (p.Val618=)
c.1933G= (p.Val645=)
c.1945G= (p.Val649=)
c.1468G= (p.Val490=)
n.2232G=
11g.94435890C>GCA382374145MRE11c.1936G>C (p.Val646Leu)
c.1852G>C (p.Val618Leu)
c.1933G>C (p.Val645Leu)
c.1945G>C (p.Val649Leu)
c.1468G>C (p.Val490Leu)
n.2232G>C
11g.94435890C>TCA6234942MRE11c.1936G>A (p.Val646Ile)
c.1852G>A (p.Val618Ile)
c.1933G>A (p.Val645Ile)
c.1945G>A (p.Val649Ile)
c.1468G>A (p.Val490Ile)
n.2232G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94435891C>ACA382374146MRE11c.1935G>T (p.Glu645Asp)
c.1851G>T (p.Glu617Asp)
c.1932G>T (p.Glu644Asp)
c.1944G>T (p.Glu648Asp)
c.1467G>T (p.Glu489Asp)
n.2231G>T
 gnomAD v4
11g.94435891C=CA1992426182MRE11c.1935G= (p.Glu645=)
c.1851G= (p.Glu617=)
c.1932G= (p.Glu644=)
c.1944G= (p.Glu648=)
c.1467G= (p.Glu489=)
n.2231G=
11g.94435891C>GCA382374147MRE11c.1935G>C (p.Glu645Asp)
c.1851G>C (p.Glu617Asp)
c.1932G>C (p.Glu644Asp)
c.1944G>C (p.Glu648Asp)
c.1467G>C (p.Glu489Asp)
n.2231G>C
11g.94435891C>TCA16613439MRE11c.1935G>A (p.Glu645=)
c.1851G>A (p.Glu617=)
c.1932G>A (p.Glu644=)
c.1944G>A (p.Glu648=)
c.1467G>A (p.Glu489=)
n.2231G>A
 ClinVar dbSNP
11g.94435892T>ACA382374150MRE11c.1934A>T (p.Glu645Val)
c.1850A>T (p.Glu617Val)
c.1931A>T (p.Glu644Val)
c.1943A>T (p.Glu648Val)
c.1466A>T (p.Glu489Val)
n.2230A>T
 dbSNP
11g.94435892T>CCA382374148MRE11c.1934A>G (p.Glu645Gly)
c.1850A>G (p.Glu617Gly)
c.1931A>G (p.Glu644Gly)
c.1943A>G (p.Glu648Gly)
c.1466A>G (p.Glu489Gly)
n.2230A>G
11g.94435892T>GCA382374149MRE11c.1934A>C (p.Glu645Ala)
c.1850A>C (p.Glu617Ala)
c.1931A>C (p.Glu644Ala)
c.1943A>C (p.Glu648Ala)
c.1466A>C (p.Glu489Ala)
n.2230A>C
11g.94435893C>ACA382374151MRE11c.1933G>T (p.Glu645Ter)
c.1849G>T (p.Glu617Ter)
c.1930G>T (p.Glu644Ter)
c.1942G>T (p.Glu648Ter)
c.1465G>T (p.Glu489Ter)
n.2229G>T
11g.94435893C>GCA382374152MRE11c.1933G>C (p.Glu645Gln)
c.1849G>C (p.Glu617Gln)
c.1930G>C (p.Glu644Gln)
c.1942G>C (p.Glu648Gln)
c.1465G>C (p.Glu489Gln)
n.2229G>C
11g.94435893C>TCA382374153MRE11c.1933G>A (p.Glu645Lys)
c.1849G>A (p.Glu617Lys)
c.1930G>A (p.Glu644Lys)
c.1942G>A (p.Glu648Lys)
c.1465G>A (p.Glu489Lys)
n.2229G>A
11g.94435894A>CCA382374154MRE11c.1932T>G (p.Ile644Met)
c.1848T>G (p.Ile616Met)
c.1929T>G (p.Ile643Met)
c.1941T>G (p.Ile647Met)
c.1464T>G (p.Ile488Met)
n.2228T>G
11g.94435894A>GCA476287160MRE11c.1932T>C (p.Ile644=)
c.1848T>C (p.Ile616=)
c.1929T>C (p.Ile643=)
c.1941T>C (p.Ile647=)
c.1464T>C (p.Ile488=)
n.2228T>C
11g.94435894A>TCA476287161MRE11c.1932T>A (p.Ile644=)
c.1848T>A (p.Ile616=)
c.1929T>A (p.Ile643=)
c.1941T>A (p.Ile647=)
c.1464T>A (p.Ile488=)
n.2228T>A
11g.94435895A>CCA382374155MRE11c.1931T>G (p.Ile644Ser)
c.1847T>G (p.Ile616Ser)
c.1928T>G (p.Ile643Ser)
c.1940T>G (p.Ile647Ser)
c.1463T>G (p.Ile488Ser)
n.2227T>G
11g.94435895A>GCA382374156MRE11c.1931T>C (p.Ile644Thr)
c.1847T>C (p.Ile616Thr)
c.1928T>C (p.Ile643Thr)
c.1940T>C (p.Ile647Thr)
c.1463T>C (p.Ile488Thr)
n.2227T>C
 ClinVar
11g.94435895A>TCA382374157MRE11c.1931T>A (p.Ile644Asn)
c.1847T>A (p.Ile616Asn)
c.1928T>A (p.Ile643Asn)
c.1940T>A (p.Ile647Asn)
c.1463T>A (p.Ile488Asn)
n.2227T>A
11g.94435896T>ACA382374158MRE11c.1930A>T (p.Ile644Phe)
c.1846A>T (p.Ile616Phe)
c.1927A>T (p.Ile643Phe)
c.1939A>T (p.Ile647Phe)
c.1462A>T (p.Ile488Phe)
n.2226A>T
11g.94435896T>CCA382374159MRE11c.1930A>G (p.Ile644Val)
c.1846A>G (p.Ile616Val)
c.1927A>G (p.Ile643Val)
c.1939A>G (p.Ile647Val)
c.1462A>G (p.Ile488Val)
n.2226A>G
11g.94435896T>GCA382374160MRE11c.1930A>C (p.Ile644Leu)
c.1846A>C (p.Ile616Leu)
c.1927A>C (p.Ile643Leu)
c.1939A>C (p.Ile647Leu)
c.1462A>C (p.Ile488Leu)
n.2226A>C
11g.94435897C>ACA476287162MRE11c.1929G>T (p.Val643=)
c.1845G>T (p.Val615=)
c.1926G>T (p.Val642=)
c.1938G>T (p.Val646=)
c.1461G>T (p.Val487=)
n.2225G>T
 ClinVar dbSNP
11g.94435897C=CA1992426190MRE11c.1929G= (p.Val643=)
c.1845G= (p.Val615=)
c.1926G= (p.Val642=)
c.1938G= (p.Val646=)
c.1461G= (p.Val487=)
n.2225G=
11g.94435897C>GCA476287164MRE11c.1929G>C (p.Val643=)
c.1845G>C (p.Val615=)
c.1926G>C (p.Val642=)
c.1938G>C (p.Val646=)
c.1461G>C (p.Val487=)
n.2225G>C
11g.94435897C>TCA476287163MRE11c.1929G>A (p.Val643=)
c.1845G>A (p.Val615=)
c.1926G>A (p.Val642=)
c.1938G>A (p.Val646=)
c.1461G>A (p.Val487=)
n.2225G>A
11g.94435898A>CCA382374162MRE11c.1928T>G (p.Val643Gly)
c.1844T>G (p.Val615Gly)
c.1925T>G (p.Val642Gly)
c.1937T>G (p.Val646Gly)
c.1460T>G (p.Val487Gly)
n.2224T>G
11g.94435898A>GCA382374163MRE11c.1928T>C (p.Val643Ala)
c.1844T>C (p.Val615Ala)
c.1925T>C (p.Val642Ala)
c.1937T>C (p.Val646Ala)
c.1460T>C (p.Val487Ala)
n.2224T>C
11g.94435898A>TCA382374161MRE11c.1928T>A (p.Val643Glu)
c.1844T>A (p.Val615Glu)
c.1925T>A (p.Val642Glu)
c.1937T>A (p.Val646Glu)
c.1460T>A (p.Val487Glu)
n.2224T>A
11g.94435899C>ACA10579360MRE11c.1927G>T (p.Val643Leu)
c.1843G>T (p.Val615Leu)
c.1924G>T (p.Val642Leu)
c.1936G>T (p.Val646Leu)
c.1459G>T (p.Val487Leu)
n.2223G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94435899C=CA1992426195MRE11c.1927G= (p.Val643=)
c.1843G= (p.Val615=)
c.1924G= (p.Val642=)
c.1936G= (p.Val646=)
c.1459G= (p.Val487=)
n.2223G=
11g.94435899C>GCA382374164MRE11c.1927G>C (p.Val643Leu)
c.1843G>C (p.Val615Leu)
c.1924G>C (p.Val642Leu)
c.1936G>C (p.Val646Leu)
c.1459G>C (p.Val487Leu)
n.2223G>C
11g.94435899C>TCA382374165MRE11c.1927G>A (p.Val643Met)
c.1843G>A (p.Val615Met)
c.1924G>A (p.Val642Met)
c.1936G>A (p.Val646Met)
c.1459G>A (p.Val487Met)
n.2223G>A
 ClinVar gnomAD v3 gnomAD v4
11g.94435900C>ACA382374166MRE11c.1927-1G>T (n.1927-1G>T)
c.1843-1G>T (n.1843-1G>T)
c.1924-1G>T (n.1924-1G>T)
c.1936-1G>T (n.1936-1G>T)
c.1459-1G>T (n.1459-1G>T)
n.2223-1G>T
 ClinVar dbSNP gnomAD v4
11g.94435900C=CA1992426201MRE11c.1927-1G= (n.1927-1G=)
c.1843-1G= (n.1843-1G=)
c.1924-1G= (n.1924-1G=)
c.1936-1G= (n.1936-1G=)
c.1459-1G= (n.1459-1G=)
n.2223-1G=
11g.94435900C>GCA382374167MRE11c.1927-1G>C (n.1927-1G>C)
c.1843-1G>C (n.1843-1G>C)
c.1924-1G>C (n.1924-1G>C)
c.1936-1G>C (n.1936-1G>C)
c.1459-1G>C (n.1459-1G>C)
n.2223-1G>C
11g.94435900C>TCA382374168MRE11c.1927-1G>A (n.1927-1G>A)
c.1843-1G>A (n.1843-1G>A)
c.1924-1G>A (n.1924-1G>A)
c.1936-1G>A (n.1936-1G>A)
c.1459-1G>A (n.1459-1G>A)
n.2223-1G>A
 gnomAD v4
11g.94435901T>ACA382374169MRE11c.1927-2A>T (n.1927-2A>T)
c.1843-2A>T (n.1843-2A>T)
c.1924-2A>T (n.1924-2A>T)
c.1936-2A>T (n.1936-2A>T)
c.1459-2A>T (n.1459-2A>T)
n.2223-2A>T
11g.94435901T>CCA165710MRE11c.1927-2A>G (n.1927-2A>G)
c.1843-2A>G (n.1843-2A>G)
c.1924-2A>G (n.1924-2A>G)
c.1936-2A>G (n.1936-2A>G)
c.1459-2A>G (n.1459-2A>G)
n.2223-2A>G
 ClinVar dbSNP gnomAD v4
11g.94435901T>GCA382374170MRE11c.1927-2A>C (n.1927-2A>C)
c.1843-2A>C (n.1843-2A>C)
c.1924-2A>C (n.1924-2A>C)
c.1936-2A>C (n.1936-2A>C)
c.1459-2A>C (n.1459-2A>C)
n.2223-2A>C
11g.94435901T=CA1992426209MRE11c.1927-2A= (n.1927-2A=)
c.1843-2A= (n.1843-2A=)
c.1924-2A= (n.1924-2A=)
c.1936-2A= (n.1936-2A=)
c.1459-2A= (n.1459-2A=)
n.2223-2A=
11g.94435904C>ACA2580085058MRE11c.1927-5G>T (n.1927-5G>T)
c.1843-5G>T (n.1843-5G>T)
c.1924-5G>T (n.1924-5G>T)
c.1936-5G>T (n.1936-5G>T)
c.1459-5G>T (n.1459-5G>T)
n.2223-5G>T
 ClinVar
11g.94435904C=CA1992426214MRE11c.1927-5G= (n.1927-5G=)
c.1843-5G= (n.1843-5G=)
c.1924-5G= (n.1924-5G=)
c.1936-5G= (n.1936-5G=)
c.1459-5G= (n.1459-5G=)
n.2223-5G=
11g.94435904C>GCA915947740MRE11c.1927-5G>C (n.1927-5G>C)
c.1843-5G>C (n.1843-5G>C)
c.1924-5G>C (n.1924-5G>C)
c.1936-5G>C (n.1936-5G>C)
c.1459-5G>C (n.1459-5G>C)
n.2223-5G>C
 ClinVar dbSNP
11g.94435907G>ACA2724798016MRE11c.1927-8C>T (n.1927-8C>T)
c.1843-8C>T (n.1843-8C>T)
c.1924-8C>T (n.1924-8C>T)
c.1936-8C>T (n.1936-8C>T)
c.1459-8C>T (n.1459-8C>T)
n.2223-8C>T
 dbSNP
11g.94435908delCA2573147805MRE11c.1927-8del (n.1927-8del)
c.1843-8del (n.1843-8del)
c.1924-8del (n.1924-8del)
c.1936-8del (n.1936-8del)
c.1459-8del (n.1459-8del)
n.2223-8del
 ClinVar dbSNP
11g.94435908G=CA1992426228MRE11c.1927-9C= (n.1927-9C=)
c.1843-9C= (n.1843-9C=)
c.1924-9C= (n.1924-9C=)
c.1936-9C= (n.1936-9C=)
c.1459-9C= (n.1459-9C=)
n.2223-9C=
11g.94435908G>TCA16613506MRE11c.1927-9C>A (n.1927-9C>A)
c.1843-9C>A (n.1843-9C>A)
c.1924-9C>A (n.1924-9C>A)
c.1936-9C>A (n.1936-9C>A)
c.1459-9C>A (n.1459-9C>A)
n.2223-9C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94435909A>GCA2574952472MRE11c.1927-10T>C (n.1927-10T>C)
c.1843-10T>C (n.1843-10T>C)
c.1924-10T>C (n.1924-10T>C)
c.1936-10T>C (n.1936-10T>C)
c.1459-10T>C (n.1459-10T>C)
n.2223-10T>C
 gnomAD v4
11g.94435912C>ACA600852528MRE11c.1927-13G>T (n.1927-13G>T)
c.1843-13G>T (n.1843-13G>T)
c.1924-13G>T (n.1924-13G>T)
c.1936-13G>T (n.1936-13G>T)
c.1459-13G>T (n.1459-13G>T)
n.2223-13G>T
 ClinVar gnomAD v2
11g.94435912C=CA1992426231MRE11c.1927-13G= (n.1927-13G=)
c.1843-13G= (n.1843-13G=)
c.1924-13G= (n.1924-13G=)
c.1936-13G= (n.1936-13G=)
c.1459-13G= (n.1459-13G=)
n.2223-13G=
11g.94435915dupCA6234943MRE11c.1927-14dup (n.1927-14dup)
c.1843-14dup (n.1843-14dup)
c.1924-14dup (n.1924-14dup)
c.1936-14dup (n.1936-14dup)
c.1459-14dup (n.1459-14dup)
n.2223-14dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94435914A=CA1992426236MRE11c.1927-15T= (n.1927-15T=)
c.1843-15T= (n.1843-15T=)
c.1924-15T= (n.1924-15T=)
c.1936-15T= (n.1936-15T=)
c.1459-15T= (n.1459-15T=)
n.2223-15T=
11g.94435914A>GCA2615598568MRE11c.1927-15T>C (n.1927-15T>C)
c.1843-15T>C (n.1843-15T>C)
c.1924-15T>C (n.1924-15T>C)
c.1936-15T>C (n.1936-15T>C)
c.1459-15T>C (n.1459-15T>C)
n.2223-15T>C
 gnomAD v4
11g.94435914_94435915insTCA600852529MRE11c.1927-16_1927-15insA (n.1927-16_1927-15insA)
c.1843-16_1843-15insA (n.1843-16_1843-15insA)
c.1924-16_1924-15insA (n.1924-16_1924-15insA)
c.1936-16_1936-15insA (n.1936-16_1936-15insA)
c.1459-16_1459-15insA (n.1459-16_1459-15insA)
n.2223-16_2223-15insA
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94435915A=CA1992426240MRE11c.1927-16T= (n.1927-16T=)
c.1843-16T= (n.1843-16T=)
c.1924-16T= (n.1924-16T=)
c.1936-16T= (n.1936-16T=)
c.1459-16T= (n.1459-16T=)
n.2223-16T=
11g.94435915A>CCA2615598569MRE11c.1927-16T>G (n.1927-16T>G)
c.1843-16T>G (n.1843-16T>G)
c.1924-16T>G (n.1924-16T>G)
c.1936-16T>G (n.1936-16T>G)
c.1459-16T>G (n.1459-16T>G)
n.2223-16T>G
 gnomAD v4
11g.94435915A>TCA600852530MRE11c.1927-16T>A (n.1927-16T>A)
c.1843-16T>A (n.1843-16T>A)
c.1924-16T>A (n.1924-16T>A)
c.1936-16T>A (n.1936-16T>A)
c.1459-16T>A (n.1459-16T>A)
n.2223-16T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94435916G>ACA6234944MRE11c.1927-17C>T (n.1927-17C>T)
c.1843-17C>T (n.1843-17C>T)
c.1924-17C>T (n.1924-17C>T)
c.1936-17C>T (n.1936-17C>T)
c.1459-17C>T (n.1459-17C>T)
n.2223-17C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94435916G=CA1992426242MRE11c.1927-17C= (n.1927-17C=)
c.1843-17C= (n.1843-17C=)
c.1924-17C= (n.1924-17C=)
c.1936-17C= (n.1936-17C=)
c.1459-17C= (n.1459-17C=)
n.2223-17C=
11g.94435917C=CA1992426244MRE11c.1927-18G= (n.1927-18G=)
c.1843-18G= (n.1843-18G=)
c.1924-18G= (n.1924-18G=)
c.1936-18G= (n.1936-18G=)
c.1459-18G= (n.1459-18G=)
n.2223-18G=
11g.94435917C>TCA600852531MRE11c.1927-18G>A (n.1927-18G>A)
c.1843-18G>A (n.1843-18G>A)
c.1924-18G>A (n.1924-18G>A)
c.1936-18G>A (n.1936-18G>A)
c.1459-18G>A (n.1459-18G>A)
n.2223-18G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94435917_94435921delinsCAACACA1992426249MRE11c.1927-22_1927-18delinsTGTTG (n.1927-22_1927-18delinsTGTTG)
c.1843-22_1843-18delinsTGTTG (n.1843-22_1843-18delinsTGTTG)
c.1924-22_1924-18delinsTGTTG (n.1924-22_1924-18delinsTGTTG)
c.1936-22_1936-18delinsTGTTG (n.1936-22_1936-18delinsTGTTG)
c.1459-22_1459-18delinsTGTTG (n.1459-22_1459-18delinsTGTTG)
n.2223-22_2223-18delinsTGTTG
11g.94435922_94435925delCA941018147MRE11c.1927-22_1927-19del (n.1927-22_1927-19del)
c.1843-22_1843-19del (n.1843-22_1843-19del)
c.1924-22_1924-19del (n.1924-22_1924-19del)
c.1936-22_1936-19del (n.1936-22_1936-19del)
c.1459-22_1459-19del (n.1459-22_1459-19del)
n.2223-22_2223-19del
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.94435919A>GCA2615598571MRE11c.1927-20T>C (n.1927-20T>C)
c.1843-20T>C (n.1843-20T>C)
c.1924-20T>C (n.1924-20T>C)
c.1936-20T>C (n.1936-20T>C)
c.1459-20T>C (n.1459-20T>C)
n.2223-20T>C
 gnomAD v4
11g.94435920C>ACA2574952473MRE11c.1927-21G>T (n.1927-21G>T)
c.1843-21G>T (n.1843-21G>T)
c.1924-21G>T (n.1924-21G>T)
c.1936-21G>T (n.1936-21G>T)
c.1459-21G>T (n.1459-21G>T)
n.2223-21G>T
11g.94435920C=CA1992426252MRE11c.1927-21G= (n.1927-21G=)
c.1843-21G= (n.1843-21G=)
c.1924-21G= (n.1924-21G=)
c.1936-21G= (n.1936-21G=)
c.1459-21G= (n.1459-21G=)
n.2223-21G=
11g.94435920C>TCA6234945MRE11c.1927-21G>A (n.1927-21G>A)
c.1843-21G>A (n.1843-21G>A)
c.1924-21G>A (n.1924-21G>A)
c.1936-21G>A (n.1936-21G>A)
c.1459-21G>A (n.1459-21G>A)
n.2223-21G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94435921A=CA1992426255MRE11c.1927-22T= (n.1927-22T=)
c.1843-22T= (n.1843-22T=)
c.1924-22T= (n.1924-22T=)
c.1936-22T= (n.1936-22T=)
c.1459-22T= (n.1459-22T=)
n.2223-22T=
11g.94435921A>CCA6234946MRE11c.1927-22T>G (n.1927-22T>G)
c.1843-22T>G (n.1843-22T>G)
c.1924-22T>G (n.1924-22T>G)
c.1936-22T>G (n.1936-22T>G)
c.1459-22T>G (n.1459-22T>G)
n.2223-22T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.94435921A>GCA682016060MRE11c.1927-22T>C (n.1927-22T>C)
c.1843-22T>C (n.1843-22T>C)
c.1924-22T>C (n.1924-22T>C)
c.1936-22T>C (n.1936-22T>C)
c.1459-22T>C (n.1459-22T>C)
n.2223-22T>C
 dbSNP gnomAD v3 gnomAD v4
11g.94435924C>TCA2574952474MRE11c.1927-25G>A (n.1927-25G>A)
c.1843-25G>A (n.1843-25G>A)
c.1924-25G>A (n.1924-25G>A)
c.1936-25G>A (n.1936-25G>A)
c.1459-25G>A (n.1459-25G>A)
n.2223-25G>A
 gnomAD v4
11g.94435925A>GCA2615598582MRE11c.1927-26T>C (n.1927-26T>C)
c.1843-26T>C (n.1843-26T>C)
c.1924-26T>C (n.1924-26T>C)
c.1936-26T>C (n.1936-26T>C)
c.1459-26T>C (n.1459-26T>C)
n.2223-26T>C
 gnomAD v4
11g.94435926G>TCA2615598585MRE11c.1927-27C>A (n.1927-27C>A)
c.1843-27C>A (n.1843-27C>A)
c.1924-27C>A (n.1924-27C>A)
c.1936-27C>A (n.1936-27C>A)
c.1459-27C>A (n.1459-27C>A)
n.2223-27C>A
 gnomAD v4
11g.94435926_94435927delinsGTCA1992426259MRE11c.1927-28_1927-27delinsAC (n.1927-28_1927-27delinsAC)
c.1843-28_1843-27delinsAC (n.1843-28_1843-27delinsAC)
c.1924-28_1924-27delinsAC (n.1924-28_1924-27delinsAC)
c.1936-28_1936-27delinsAC (n.1936-28_1936-27delinsAC)
c.1459-28_1459-27delinsAC (n.1459-28_1459-27delinsAC)
n.2223-28_2223-27delinsAC
11g.94435931delCA600852532MRE11c.1927-28del (n.1927-28del)
c.1843-28del (n.1843-28del)
c.1924-28del (n.1924-28del)
c.1936-28del (n.1936-28del)
c.1459-28del (n.1459-28del)
n.2223-28del
 dbSNP gnomAD v2 gnomAD v4
11g.94435928T>GCA6234947MRE11c.1927-29A>C (n.1927-29A>C)
c.1843-29A>C (n.1843-29A>C)
c.1924-29A>C (n.1924-29A>C)
c.1936-29A>C (n.1936-29A>C)
c.1459-29A>C (n.1459-29A>C)
n.2223-29A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.94435928T=CA1992426262MRE11c.1927-29A= (n.1927-29A=)
c.1843-29A= (n.1843-29A=)
c.1924-29A= (n.1924-29A=)
c.1936-29A= (n.1936-29A=)
c.1459-29A= (n.1459-29A=)
n.2223-29A=
11g.94435930T>CCA2615598589MRE11c.1927-31A>G (n.1927-31A>G)
c.1843-31A>G (n.1843-31A>G)
c.1924-31A>G (n.1924-31A>G)
c.1936-31A>G (n.1936-31A>G)
c.1459-31A>G (n.1459-31A>G)
n.2223-31A>G
 gnomAD v4
11g.94435930T>GCA600852533MRE11c.1927-31A>C (n.1927-31A>C)
c.1843-31A>C (n.1843-31A>C)
c.1924-31A>C (n.1924-31A>C)
c.1936-31A>C (n.1936-31A>C)
c.1459-31A>C (n.1459-31A>C)
n.2223-31A>C
 dbSNP gnomAD v2 gnomAD v4
11g.94435930T=CA1992426264MRE11c.1927-31A= (n.1927-31A=)
c.1843-31A= (n.1843-31A=)
c.1924-31A= (n.1924-31A=)
c.1936-31A= (n.1936-31A=)
c.1459-31A= (n.1459-31A=)
n.2223-31A=
11g.94435932delCA2615598591MRE11c.1927-33del (n.1927-33del)
c.1843-33del (n.1843-33del)
c.1924-33del (n.1924-33del)
c.1936-33del (n.1936-33del)
c.1459-33del (n.1459-33del)
n.2223-33del
 gnomAD v4
11g.94435932G>ACA2615598592MRE11c.1927-33C>T (n.1927-33C>T)
c.1843-33C>T (n.1843-33C>T)
c.1924-33C>T (n.1924-33C>T)
c.1936-33C>T (n.1936-33C>T)
c.1459-33C>T (n.1459-33C>T)
n.2223-33C>T
 gnomAD v4
11g.94435932G=CA1992426269MRE11c.1927-33C= (n.1927-33C=)
c.1843-33C= (n.1843-33C=)
c.1924-33C= (n.1924-33C=)
c.1936-33C= (n.1936-33C=)
c.1459-33C= (n.1459-33C=)
n.2223-33C=
11g.94435932G>TCA1992426278MRE11c.1927-33C>A (n.1927-33C>A)
c.1843-33C>A (n.1843-33C>A)
c.1924-33C>A (n.1924-33C>A)
c.1936-33C>A (n.1936-33C>A)
c.1459-33C>A (n.1459-33C>A)
n.2223-33C>A
 dbSNP gnomAD v4
11g.94435933T>ACA2574952475MRE11c.1927-34A>T (n.1927-34A>T)
c.1843-34A>T (n.1843-34A>T)
c.1924-34A>T (n.1924-34A>T)
c.1936-34A>T (n.1936-34A>T)
c.1459-34A>T (n.1459-34A>T)
n.2223-34A>T
11g.94435934G>ACA2615598599MRE11c.1927-35C>T (n.1927-35C>T)
c.1843-35C>T (n.1843-35C>T)
c.1924-35C>T (n.1924-35C>T)
c.1936-35C>T (n.1936-35C>T)
c.1459-35C>T (n.1459-35C>T)
n.2223-35C>T
 gnomAD v4
11g.94435934G>TCA2615598600MRE11c.1927-35C>A (n.1927-35C>A)
c.1843-35C>A (n.1843-35C>A)
c.1924-35C>A (n.1924-35C>A)
c.1936-35C>A (n.1936-35C>A)
c.1459-35C>A (n.1459-35C>A)
n.2223-35C>A
 gnomAD v4
11g.94435936G>TCA2615598603MRE11c.1927-37C>A (n.1927-37C>A)
c.1843-37C>A (n.1843-37C>A)
c.1924-37C>A (n.1924-37C>A)
c.1936-37C>A (n.1936-37C>A)
c.1459-37C>A (n.1459-37C>A)
n.2223-37C>A
 gnomAD v4

Number of alleles fetched