Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.1496072A>CCA345697956TPOc.2090A>C (p.Asp697Ala)
c.1571A>C (p.Asp524Ala)
c.1919A>C (p.Asp640Ala)
c.1877A>C (p.Asp626Ala)
c.514A>C
n.424+2033A>C
c.512A>C (p.Asp171Ala)
n.677+2033A>C
n.2091A>C
c.2126A>C (p.Asp709Ala)
c.1955A>C (p.Asp652Ala)
c.1607A>C (p.Asp536Ala)
2g.1496072A>GCA345697958TPOc.2090A>G (p.Asp697Gly)
c.1571A>G (p.Asp524Gly)
c.1919A>G (p.Asp640Gly)
c.1877A>G (p.Asp626Gly)
c.514A>G
n.424+2033A>G
c.512A>G (p.Asp171Gly)
n.677+2033A>G
n.2091A>G
c.2126A>G (p.Asp709Gly)
c.1955A>G (p.Asp652Gly)
c.1607A>G (p.Asp536Gly)
2g.1496072A>TCA345697961TPOc.2090A>T (p.Asp697Val)
c.1571A>T (p.Asp524Val)
c.1919A>T (p.Asp640Val)
c.1877A>T (p.Asp626Val)
c.514A>T
n.424+2033A>T
c.512A>T (p.Asp171Val)
n.677+2033A>T
n.2091A>T
c.2126A>T (p.Asp709Val)
c.1955A>T (p.Asp652Val)
c.1607A>T (p.Asp536Val)
2g.1496073C>ACA345697962TPOc.2091C>A (p.Asp697Glu)
c.1572C>A (p.Asp524Glu)
c.1920C>A (p.Asp640Glu)
c.1878C>A (p.Asp626Glu)
c.515C>A
n.424+2034C>A
c.513C>A (p.Asp171Glu)
n.677+2034C>A
n.2092C>A
c.2127C>A (p.Asp709Glu)
c.1956C>A (p.Asp652Glu)
c.1608C>A (p.Asp536Glu)
2g.1496073C>GCA345697964TPOc.2091C>G (p.Asp697Glu)
c.1572C>G (p.Asp524Glu)
c.1920C>G (p.Asp640Glu)
c.1878C>G (p.Asp626Glu)
c.515C>G
n.424+2034C>G
c.513C>G (p.Asp171Glu)
n.677+2034C>G
n.2092C>G
c.2127C>G (p.Asp709Glu)
c.1956C>G (p.Asp652Glu)
c.1608C>G (p.Asp536Glu)
2g.1496073C>TCA424756930TPOc.2091C>T (p.Asp697=)
c.1572C>T (p.Asp524=)
c.1920C>T (p.Asp640=)
c.1878C>T (p.Asp626=)
c.515C>T
n.424+2034C>T
c.513C>T (p.Asp171=)
n.677+2034C>T
n.2092C>T
c.2127C>T (p.Asp709=)
c.1956C>T (p.Asp652=)
c.1608C>T (p.Asp536=)
2g.1496074A>CCA345697966TPOc.2092A>C (p.Asn698His)
c.1573A>C (p.Asn525His)
c.1921A>C (p.Asn641His)
c.1879A>C (p.Asn627His)
c.516A>C
n.424+2035A>C
c.514A>C (p.Asn172His)
n.677+2035A>C
n.2093A>C
c.2128A>C (p.Asn710His)
c.1957A>C (p.Asn653His)
c.1609A>C (p.Asn537His)
2g.1496074A>GCA345697968TPOc.2092A>G (p.Asn698Asp)
c.1573A>G (p.Asn525Asp)
c.1921A>G (p.Asn641Asp)
c.1879A>G (p.Asn627Asp)
c.516A>G
n.424+2035A>G
c.514A>G (p.Asn172Asp)
n.677+2035A>G
n.2093A>G
c.2128A>G (p.Asn710Asp)
c.1957A>G (p.Asn653Asp)
c.1609A>G (p.Asn537Asp)
2g.1496074A>TCA345697970TPOc.2092A>T (p.Asn698Tyr)
c.1573A>T (p.Asn525Tyr)
c.1921A>T (p.Asn641Tyr)
c.1879A>T (p.Asn627Tyr)
c.516A>T
n.424+2035A>T
c.514A>T (p.Asn172Tyr)
n.677+2035A>T
n.2093A>T
c.2128A>T (p.Asn710Tyr)
c.1957A>T (p.Asn653Tyr)
c.1609A>T (p.Asn537Tyr)
2g.1496075A>CCA345697972TPOc.2093A>C (p.Asn698Thr)
c.1574A>C (p.Asn525Thr)
c.1922A>C (p.Asn641Thr)
c.1880A>C (p.Asn627Thr)
c.517A>C
n.424+2036A>C
c.515A>C (p.Asn172Thr)
n.677+2036A>C
n.2094A>C
c.2129A>C (p.Asn710Thr)
c.1958A>C (p.Asn653Thr)
c.1610A>C (p.Asn537Thr)
COSMIC COSMIC
2g.1496075A>GCA345697974TPOc.2093A>G (p.Asn698Ser)
c.1574A>G (p.Asn525Ser)
c.1922A>G (p.Asn641Ser)
c.1880A>G (p.Asn627Ser)
c.517A>G
n.424+2036A>G
c.515A>G (p.Asn172Ser)
n.677+2036A>G
n.2094A>G
c.2129A>G (p.Asn710Ser)
c.1958A>G (p.Asn653Ser)
c.1610A>G (p.Asn537Ser)
2g.1496075A>TCA345697976TPOc.2093A>T (p.Asn698Ile)
c.1574A>T (p.Asn525Ile)
c.1922A>T (p.Asn641Ile)
c.1880A>T (p.Asn627Ile)
c.517A>T
n.424+2036A>T
c.515A>T (p.Asn172Ile)
n.677+2036A>T
n.2094A>T
c.2129A>T (p.Asn710Ile)
c.1958A>T (p.Asn653Ile)
c.1610A>T (p.Asn537Ile)
2g.1496076C>ACA345697981TPOc.2094C>A (p.Asn698Lys)
c.1575C>A (p.Asn525Lys)
c.1923C>A (p.Asn641Lys)
c.1881C>A (p.Asn627Lys)
c.518C>A
n.424+2037C>A
c.516C>A (p.Asn172Lys)
n.677+2037C>A
n.2095C>A
c.2130C>A (p.Asn710Lys)
c.1959C>A (p.Asn653Lys)
c.1611C>A (p.Asn537Lys)
2g.1496076C=CA1233577889TPOc.2094C= (p.Asn698=)
c.1575C= (p.Asn525=)
c.1923C= (p.Asn641=)
c.1881C= (p.Asn627=)
c.518C=
n.424+2037C=
c.516C= (p.Asn172=)
n.677+2037C=
n.2095C=
c.2130C= (p.Asn710=)
c.1959C= (p.Asn653=)
c.1611C= (p.Asn537=)
2g.1496076C>GCA345697979TPOc.2094C>G (p.Asn698Lys)
c.1575C>G (p.Asn525Lys)
c.1923C>G (p.Asn641Lys)
c.1881C>G (p.Asn627Lys)
c.518C>G
n.424+2037C>G
c.516C>G (p.Asn172Lys)
n.677+2037C>G
n.2095C>G
c.2130C>G (p.Asn710Lys)
c.1959C>G (p.Asn653Lys)
c.1611C>G (p.Asn537Lys)
2g.1496076C>TCA424756934TPOc.2094C>T (p.Asn698=)
c.1575C>T (p.Asn525=)
c.1923C>T (p.Asn641=)
c.1881C>T (p.Asn627=)
c.518C>T
n.424+2037C>T
c.516C>T (p.Asn172=)
n.677+2037C>T
n.2095C>T
c.2130C>T (p.Asn710=)
c.1959C>T (p.Asn653=)
c.1611C>T (p.Asn537=)
ClinVar dbSNP gnomAD v4
2g.1496077A>CCA345697982TPOc.2095A>C (p.Thr699Pro)
c.1576A>C (p.Thr526Pro)
c.1924A>C (p.Thr642Pro)
c.1882A>C (p.Thr628Pro)
c.519A>C
n.424+2038A>C
c.517A>C (p.Thr173Pro)
n.677+2038A>C
n.2096A>C
c.2131A>C (p.Thr711Pro)
c.1960A>C (p.Thr654Pro)
c.1612A>C (p.Thr538Pro)
2g.1496077A>GCA345697985TPOc.2095A>G (p.Thr699Ala)
c.1576A>G (p.Thr526Ala)
c.1924A>G (p.Thr642Ala)
c.1882A>G (p.Thr628Ala)
c.519A>G
n.424+2038A>G
c.517A>G (p.Thr173Ala)
n.677+2038A>G
n.2096A>G
c.2131A>G (p.Thr711Ala)
c.1960A>G (p.Thr654Ala)
c.1612A>G (p.Thr538Ala)
COSMIC COSMIC
2g.1496077A>TCA345697984TPOc.2095A>T (p.Thr699Ser)
c.1576A>T (p.Thr526Ser)
c.1924A>T (p.Thr642Ser)
c.1882A>T (p.Thr628Ser)
c.519A>T
n.424+2038A>T
c.517A>T (p.Thr173Ser)
n.677+2038A>T
n.2096A>T
c.2131A>T (p.Thr711Ser)
c.1960A>T (p.Thr654Ser)
c.1612A>T (p.Thr538Ser)
2g.1496078C>ACA345697987TPOc.2096C>A (p.Thr699Asn)
c.1577C>A (p.Thr526Asn)
c.1925C>A (p.Thr642Asn)
c.1883C>A (p.Thr628Asn)
c.520C>A
n.424+2039C>A
c.518C>A (p.Thr173Asn)
n.677+2039C>A
n.2097C>A
c.2132C>A (p.Thr711Asn)
c.1961C>A (p.Thr654Asn)
c.1613C>A (p.Thr538Asn)
2g.1496078C>GCA345697989TPOc.2096C>G (p.Thr699Ser)
c.1577C>G (p.Thr526Ser)
c.1925C>G (p.Thr642Ser)
c.1883C>G (p.Thr628Ser)
c.520C>G
n.424+2039C>G
c.518C>G (p.Thr173Ser)
n.677+2039C>G
n.2097C>G
c.2132C>G (p.Thr711Ser)
c.1961C>G (p.Thr654Ser)
c.1613C>G (p.Thr538Ser)
2g.1496078C>TCA345697991TPOc.2096C>T (p.Thr699Ile)
c.1577C>T (p.Thr526Ile)
c.1925C>T (p.Thr642Ile)
c.1883C>T (p.Thr628Ile)
c.520C>T
n.424+2039C>T
c.518C>T (p.Thr173Ile)
n.677+2039C>T
n.2097C>T
c.2132C>T (p.Thr711Ile)
c.1961C>T (p.Thr654Ile)
c.1613C>T (p.Thr538Ile)
2g.1496079T>ACA424756938TPOc.2097T>A (p.Thr699=)
c.1578T>A (p.Thr526=)
c.1926T>A (p.Thr642=)
c.1884T>A (p.Thr628=)
c.521T>A
n.424+2040T>A
c.519T>A (p.Thr173=)
n.677+2040T>A
n.2098T>A
c.2133T>A (p.Thr711=)
c.1962T>A (p.Thr654=)
c.1614T>A (p.Thr538=)
2g.1496079T>CCA424756939TPOc.2097T>C (p.Thr699=)
c.1578T>C (p.Thr526=)
c.1926T>C (p.Thr642=)
c.1884T>C (p.Thr628=)
c.521T>C
n.424+2040T>C
c.519T>C (p.Thr173=)
n.677+2040T>C
n.2098T>C
c.2133T>C (p.Thr711=)
c.1962T>C (p.Thr654=)
c.1614T>C (p.Thr538=)
dbSNP gnomAD v2 gnomAD v4
2g.1496079T>GCA424756940TPOc.2097T>G (p.Thr699=)
c.1578T>G (p.Thr526=)
c.1926T>G (p.Thr642=)
c.1884T>G (p.Thr628=)
c.521T>G
n.424+2040T>G
c.519T>G (p.Thr173=)
n.677+2040T>G
n.2098T>G
c.2133T>G (p.Thr711=)
c.1962T>G (p.Thr654=)
c.1614T>G (p.Thr538=)
2g.1496079T=CA1233577890TPOc.2097T= (p.Thr699=)
c.1578T= (p.Thr526=)
c.1926T= (p.Thr642=)
c.1884T= (p.Thr628=)
c.521T=
n.424+2040T=
c.519T= (p.Thr173=)
n.677+2040T=
n.2098T=
c.2133T= (p.Thr711=)
c.1962T= (p.Thr654=)
c.1614T= (p.Thr538=)
2g.1496080G>ACA345697994TPOc.2098G>A (p.Gly700Ser)
c.1579G>A (p.Gly527Ser)
c.1927G>A (p.Gly643Ser)
c.1885G>A (p.Gly629Ser)
c.522G>A
n.424+2041G>A
c.520G>A (p.Gly174Ser)
n.677+2041G>A
n.2099G>A
c.2134G>A (p.Gly712Ser)
c.1963G>A (p.Gly655Ser)
c.1615G>A (p.Gly539Ser)
gnomAD v4
2g.1496080G>CCA345697995TPOc.2098G>C (p.Gly700Arg)
c.1579G>C (p.Gly527Arg)
c.1927G>C (p.Gly643Arg)
c.1885G>C (p.Gly629Arg)
c.522G>C
n.424+2041G>C
c.520G>C (p.Gly174Arg)
n.677+2041G>C
n.2099G>C
c.2134G>C (p.Gly712Arg)
c.1963G>C (p.Gly655Arg)
c.1615G>C (p.Gly539Arg)
2g.1496080G>TCA345697997TPOc.2098G>T (p.Gly700Cys)
c.1579G>T (p.Gly527Cys)
c.1927G>T (p.Gly643Cys)
c.1885G>T (p.Gly629Cys)
c.522G>T
n.424+2041G>T
c.520G>T (p.Gly174Cys)
n.677+2041G>T
n.2099G>T
c.2134G>T (p.Gly712Cys)
c.1963G>T (p.Gly655Cys)
c.1615G>T (p.Gly539Cys)
2g.1496081G>ACA345697998TPOc.2099G>A (p.Gly700Asp)
c.1580G>A (p.Gly527Asp)
c.1928G>A (p.Gly643Asp)
c.1886G>A (p.Gly629Asp)
c.523G>A
n.424+2042G>A
c.521G>A (p.Gly174Asp)
n.677+2042G>A
n.2100G>A
c.2135G>A (p.Gly712Asp)
c.1964G>A (p.Gly655Asp)
c.1616G>A (p.Gly539Asp)
2g.1496081G>CCA345697999TPOc.2099G>C (p.Gly700Ala)
c.1580G>C (p.Gly527Ala)
c.1928G>C (p.Gly643Ala)
c.1886G>C (p.Gly629Ala)
c.523G>C
n.424+2042G>C
c.521G>C (p.Gly174Ala)
n.677+2042G>C
n.2100G>C
c.2135G>C (p.Gly712Ala)
c.1964G>C (p.Gly655Ala)
c.1616G>C (p.Gly539Ala)
2g.1496081G>TCA345698000TPOc.2099G>T (p.Gly700Val)
c.1580G>T (p.Gly527Val)
c.1928G>T (p.Gly643Val)
c.1886G>T (p.Gly629Val)
c.523G>T
n.424+2042G>T
c.521G>T (p.Gly174Val)
n.677+2042G>T
n.2100G>T
c.2135G>T (p.Gly712Val)
c.1964G>T (p.Gly655Val)
c.1616G>T (p.Gly539Val)
2g.1496082C>ACA424756945TPOc.2100C>A (p.Gly700=)
c.1581C>A (p.Gly527=)
c.1929C>A (p.Gly643=)
c.1887C>A (p.Gly629=)
c.524C>A
n.424+2043C>A
c.522C>A (p.Gly174=)
n.677+2043C>A
n.2101C>A
c.2136C>A (p.Gly712=)
c.1965C>A (p.Gly655=)
c.1617C>A (p.Gly539=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1496082C=CA1233577891TPOc.2100C= (p.Gly700=)
c.1581C= (p.Gly527=)
c.1929C= (p.Gly643=)
c.1887C= (p.Gly629=)
c.524C=
n.424+2043C=
c.522C= (p.Gly174=)
n.677+2043C=
n.2101C=
c.2136C= (p.Gly712=)
c.1965C= (p.Gly655=)
c.1617C= (p.Gly539=)
2g.1496082C>GCA424756947TPOc.2100C>G (p.Gly700=)
c.1581C>G (p.Gly527=)
c.1929C>G (p.Gly643=)
c.1887C>G (p.Gly629=)
c.524C>G
n.424+2043C>G
c.522C>G (p.Gly174=)
n.677+2043C>G
n.2101C>G
c.2136C>G (p.Gly712=)
c.1965C>G (p.Gly655=)
c.1617C>G (p.Gly539=)
2g.1496082C>TCA424756946TPOc.2100C>T (p.Gly700=)
c.1581C>T (p.Gly527=)
c.1929C>T (p.Gly643=)
c.1887C>T (p.Gly629=)
c.524C>T
n.424+2043C>T
c.522C>T (p.Gly174=)
n.677+2043C>T
n.2101C>T
c.2136C>T (p.Gly712=)
c.1965C>T (p.Gly655=)
c.1617C>T (p.Gly539=)
dbSNP gnomAD v2
2g.1496083delCA2748608169TPOc.2101del (p.Leu701SerfsTer27)
c.1582del (p.Leu528SerfsTer27)
c.1930del (p.Leu644SerfsTer27)
c.1888del (p.Leu630SerfsTer27)
c.525del
n.424+2044del
c.523del (p.Leu175SerfsTer27)
n.677+2044del
n.2102del
c.2137del (p.Leu713SerfsTer27)
c.1966del (p.Leu656SerfsTer27)
c.1618del (p.Leu540SerfsTer27)
2g.1496083C>ACA345698002TPOc.2101C>A (p.Leu701Ile)
c.1582C>A (p.Leu528Ile)
c.1930C>A (p.Leu644Ile)
c.1888C>A (p.Leu630Ile)
c.525C>A
n.424+2044C>A
c.523C>A (p.Leu175Ile)
n.677+2044C>A
n.2102C>A
c.2137C>A (p.Leu713Ile)
c.1966C>A (p.Leu656Ile)
c.1618C>A (p.Leu540Ile)
2g.1496083C>GCA345698004TPOc.2101C>G (p.Leu701Val)
c.1582C>G (p.Leu528Val)
c.1930C>G (p.Leu644Val)
c.1888C>G (p.Leu630Val)
c.525C>G
n.424+2044C>G
c.523C>G (p.Leu175Val)
n.677+2044C>G
n.2102C>G
c.2137C>G (p.Leu713Val)
c.1966C>G (p.Leu656Val)
c.1618C>G (p.Leu540Val)
2g.1496083C>TCA345698006TPOc.2101C>T (p.Leu701Phe)
c.1582C>T (p.Leu528Phe)
c.1930C>T (p.Leu644Phe)
c.1888C>T (p.Leu630Phe)
c.525C>T
n.424+2044C>T
c.523C>T (p.Leu175Phe)
n.677+2044C>T
n.2102C>T
c.2137C>T (p.Leu713Phe)
c.1966C>T (p.Leu656Phe)
c.1618C>T (p.Leu540Phe)
gnomAD v4
2g.1496084T>ACA345698013TPOc.2102T>A (p.Leu701His)
c.1583T>A (p.Leu528His)
c.1931T>A (p.Leu644His)
c.1889T>A (p.Leu630His)
c.526T>A
n.424+2045T>A
c.524T>A (p.Leu175His)
n.677+2045T>A
n.2103T>A
c.2138T>A (p.Leu713His)
c.1967T>A (p.Leu656His)
c.1619T>A (p.Leu540His)
2g.1496084T>CCA345698009TPOc.2102T>C (p.Leu701Pro)
c.1583T>C (p.Leu528Pro)
c.1931T>C (p.Leu644Pro)
c.1889T>C (p.Leu630Pro)
c.526T>C
n.424+2045T>C
c.524T>C (p.Leu175Pro)
n.677+2045T>C
n.2103T>C
c.2138T>C (p.Leu713Pro)
c.1967T>C (p.Leu656Pro)
c.1619T>C (p.Leu540Pro)
2g.1496084T>GCA345698011TPOc.2102T>G (p.Leu701Arg)
c.1583T>G (p.Leu528Arg)
c.1931T>G (p.Leu644Arg)
c.1889T>G (p.Leu630Arg)
c.526T>G
n.424+2045T>G
c.524T>G (p.Leu175Arg)
n.677+2045T>G
n.2103T>G
c.2138T>G (p.Leu713Arg)
c.1967T>G (p.Leu656Arg)
c.1619T>G (p.Leu540Arg)
2g.1496085C>ACA424756951TPOc.2103C>A (p.Leu701=)
c.1584C>A (p.Leu528=)
c.1932C>A (p.Leu644=)
c.1890C>A (p.Leu630=)
c.527C>A
n.424+2046C>A
c.525C>A (p.Leu175=)
n.677+2046C>A
n.2104C>A
c.2139C>A (p.Leu713=)
c.1968C>A (p.Leu656=)
c.1620C>A (p.Leu540=)
2g.1496085C>GCA424756952TPOc.2103C>G (p.Leu701=)
c.1584C>G (p.Leu528=)
c.1932C>G (p.Leu644=)
c.1890C>G (p.Leu630=)
c.527C>G
n.424+2046C>G
c.525C>G (p.Leu175=)
n.677+2046C>G
n.2104C>G
c.2139C>G (p.Leu713=)
c.1968C>G (p.Leu656=)
c.1620C>G (p.Leu540=)
2g.1496085C>TCA424756953TPOc.2103C>T (p.Leu701=)
c.1584C>T (p.Leu528=)
c.1932C>T (p.Leu644=)
c.1890C>T (p.Leu630=)
c.527C>T
n.424+2046C>T
c.525C>T (p.Leu175=)
n.677+2046C>T
n.2104C>T
c.2139C>T (p.Leu713=)
c.1968C>T (p.Leu656=)
c.1620C>T (p.Leu540=)
2g.1496086A>CCA345698015TPOc.2104A>C (p.Thr702Pro)
c.1585A>C (p.Thr529Pro)
c.1933A>C (p.Thr645Pro)
c.1891A>C (p.Thr631Pro)
c.528A>C
n.424+2047A>C
c.526A>C (p.Thr176Pro)
n.677+2047A>C
n.2105A>C
c.2140A>C (p.Thr714Pro)
c.1969A>C (p.Thr657Pro)
c.1621A>C (p.Thr541Pro)
gnomAD v4
2g.1496086A>GCA345698017TPOc.2104A>G (p.Thr702Ala)
c.1585A>G (p.Thr529Ala)
c.1933A>G (p.Thr645Ala)
c.1891A>G (p.Thr631Ala)
c.528A>G
n.424+2047A>G
c.526A>G (p.Thr176Ala)
n.677+2047A>G
n.2105A>G
c.2140A>G (p.Thr714Ala)
c.1969A>G (p.Thr657Ala)
c.1621A>G (p.Thr541Ala)
2g.1496086A>TCA345698020TPOc.2104A>T (p.Thr702Ser)
c.1585A>T (p.Thr529Ser)
c.1933A>T (p.Thr645Ser)
c.1891A>T (p.Thr631Ser)
c.528A>T
n.424+2047A>T
c.526A>T (p.Thr176Ser)
n.677+2047A>T
n.2105A>T
c.2140A>T (p.Thr714Ser)
c.1969A>T (p.Thr657Ser)
c.1621A>T (p.Thr541Ser)
2g.1496087C>ACA345698022TPOc.2105C>A (p.Thr702Asn)
c.1586C>A (p.Thr529Asn)
c.1934C>A (p.Thr645Asn)
c.1892C>A (p.Thr631Asn)
c.529C>A
n.424+2048C>A
c.527C>A (p.Thr176Asn)
n.677+2048C>A
n.2106C>A
c.2141C>A (p.Thr714Asn)
c.1970C>A (p.Thr657Asn)
c.1622C>A (p.Thr541Asn)
gnomAD v4
2g.1496087C=CA1233577892TPOc.2105C= (p.Thr702=)
c.1586C= (p.Thr529=)
c.1934C= (p.Thr645=)
c.1892C= (p.Thr631=)
c.529C=
n.424+2048C=
c.527C= (p.Thr176=)
n.677+2048C=
n.2106C=
c.2141C= (p.Thr714=)
c.1970C= (p.Thr657=)
c.1622C= (p.Thr541=)
2g.1496087C>GCA345698024TPOc.2105C>G (p.Thr702Ser)
c.1586C>G (p.Thr529Ser)
c.1934C>G (p.Thr645Ser)
c.1892C>G (p.Thr631Ser)
c.529C>G
n.424+2048C>G
c.527C>G (p.Thr176Ser)
n.677+2048C>G
n.2106C>G
c.2141C>G (p.Thr714Ser)
c.1970C>G (p.Thr657Ser)
c.1622C>G (p.Thr541Ser)
2g.1496087C>TCA345698025TPOc.2105C>T (p.Thr702Ile)
c.1586C>T (p.Thr529Ile)
c.1934C>T (p.Thr645Ile)
c.1892C>T (p.Thr631Ile)
c.529C>T
n.424+2048C>T
c.527C>T (p.Thr176Ile)
n.677+2048C>T
n.2106C>T
c.2141C>T (p.Thr714Ile)
c.1970C>T (p.Thr657Ile)
c.1622C>T (p.Thr541Ile)
dbSNP
2g.1496088C>ACA424756955TPOc.2106C>A (p.Thr702=)
c.1587C>A (p.Thr529=)
c.1935C>A (p.Thr645=)
c.1893C>A (p.Thr631=)
c.530C>A
n.424+2049C>A
c.528C>A (p.Thr176=)
n.677+2049C>A
n.2107C>A
c.2142C>A (p.Thr714=)
c.1971C>A (p.Thr657=)
c.1623C>A (p.Thr541=)
2g.1496088C>GCA424756956TPOc.2106C>G (p.Thr702=)
c.1587C>G (p.Thr529=)
c.1935C>G (p.Thr645=)
c.1893C>G (p.Thr631=)
c.530C>G
n.424+2049C>G
c.528C>G (p.Thr176=)
n.677+2049C>G
n.2107C>G
c.2142C>G (p.Thr714=)
c.1971C>G (p.Thr657=)
c.1623C>G (p.Thr541=)
2g.1496088C>TCA424756957TPOc.2106C>T (p.Thr702=)
c.1587C>T (p.Thr529=)
c.1935C>T (p.Thr645=)
c.1893C>T (p.Thr631=)
c.530C>T
n.424+2049C>T
c.528C>T (p.Thr176=)
n.677+2049C>T
n.2107C>T
c.2142C>T (p.Thr714=)
c.1971C>T (p.Thr657=)
c.1623C>T (p.Thr541=)
2g.1496089A>CCA424756958TPOc.2107A>C (p.Arg703=)
c.1588A>C (p.Arg530=)
c.1936A>C (p.Arg646=)
c.1894A>C (p.Arg632=)
c.531A>C
n.424+2050A>C
c.529A>C (p.Arg177=)
n.677+2050A>C
n.2108A>C
c.2143A>C (p.Arg715=)
c.1972A>C (p.Arg658=)
c.1624A>C (p.Arg542=)
2g.1496089A>GCA345698027TPOc.2107A>G (p.Arg703Gly)
c.1588A>G (p.Arg530Gly)
c.1936A>G (p.Arg646Gly)
c.1894A>G (p.Arg632Gly)
c.531A>G
n.424+2050A>G
c.529A>G (p.Arg177Gly)
n.677+2050A>G
n.2108A>G
c.2143A>G (p.Arg715Gly)
c.1972A>G (p.Arg658Gly)
c.1624A>G (p.Arg542Gly)
2g.1496089A>TCA345698029TPOc.2107A>T (p.Arg703Trp)
c.1588A>T (p.Arg530Trp)
c.1936A>T (p.Arg646Trp)
c.1894A>T (p.Arg632Trp)
c.531A>T
n.424+2050A>T
c.529A>T (p.Arg177Trp)
n.677+2050A>T
n.2108A>T
c.2143A>T (p.Arg715Trp)
c.1972A>T (p.Arg658Trp)
c.1624A>T (p.Arg542Trp)
2g.1496090G>ACA345698032TPOc.2108G>A (p.Arg703Lys)
c.1589G>A (p.Arg530Lys)
c.1937G>A (p.Arg646Lys)
c.1895G>A (p.Arg632Lys)
c.532G>A
n.424+2051G>A
c.530G>A (p.Arg177Lys)
n.677+2051G>A
n.2109G>A
c.2144G>A (p.Arg715Lys)
c.1973G>A (p.Arg658Lys)
c.1625G>A (p.Arg542Lys)
2g.1496090G>CCA345698034TPOc.2108G>C (p.Arg703Thr)
c.1589G>C (p.Arg530Thr)
c.1937G>C (p.Arg646Thr)
c.1895G>C (p.Arg632Thr)
c.532G>C
n.424+2051G>C
c.530G>C (p.Arg177Thr)
n.677+2051G>C
n.2109G>C
c.2144G>C (p.Arg715Thr)
c.1973G>C (p.Arg658Thr)
c.1625G>C (p.Arg542Thr)
2g.1496090G>TCA345698036TPOc.2108G>T (p.Arg703Met)
c.1589G>T (p.Arg530Met)
c.1937G>T (p.Arg646Met)
c.1895G>T (p.Arg632Met)
c.532G>T
n.424+2051G>T
c.530G>T (p.Arg177Met)
n.677+2051G>T
n.2109G>T
c.2144G>T (p.Arg715Met)
c.1973G>T (p.Arg658Met)
c.1625G>T (p.Arg542Met)
2g.1496091G>ACA1511953TPOc.2109G>A (p.Arg703=)
c.1590G>A (p.Arg530=)
c.1938G>A (p.Arg646=)
c.1896G>A (p.Arg632=)
c.533G>A
n.424+2052G>A
c.531G>A (p.Arg177=)
n.677+2052G>A
n.2110G>A
c.2145G>A (p.Arg715=)
c.1974G>A (p.Arg658=)
c.1626G>A (p.Arg542=)
dbSNP ExAC gnomAD v2
2g.1496091G>CCA345698041TPOc.2109G>C (p.Arg703Ser)
c.1590G>C (p.Arg530Ser)
c.1938G>C (p.Arg646Ser)
c.1896G>C (p.Arg632Ser)
c.533G>C
n.424+2052G>C
c.531G>C (p.Arg177Ser)
n.677+2052G>C
n.2110G>C
c.2145G>C (p.Arg715Ser)
c.1974G>C (p.Arg658Ser)
c.1626G>C (p.Arg542Ser)
2g.1496091G=CA1233577893TPOc.2109G= (p.Arg703=)
c.1590G= (p.Arg530=)
c.1938G= (p.Arg646=)
c.1896G= (p.Arg632=)
c.533G=
n.424+2052G=
c.531G= (p.Arg177=)
n.677+2052G=
n.2110G=
c.2145G= (p.Arg715=)
c.1974G= (p.Arg658=)
c.1626G= (p.Arg542=)
2g.1496091G>TCA345698039TPOc.2109G>T (p.Arg703Ser)
c.1590G>T (p.Arg530Ser)
c.1938G>T (p.Arg646Ser)
c.1896G>T (p.Arg632Ser)
c.533G>T
n.424+2052G>T
c.531G>T (p.Arg177Ser)
n.677+2052G>T
n.2110G>T
c.2145G>T (p.Arg715Ser)
c.1974G>T (p.Arg658Ser)
c.1626G>T (p.Arg542Ser)
2g.1496092G>ACA345698046TPOc.2110G>A (p.Val704Met)
c.1591G>A (p.Val531Met)
c.1939G>A (p.Val647Met)
c.1897G>A (p.Val633Met)
c.534G>A
n.424+2053G>A
c.532G>A (p.Val178Met)
n.677+2053G>A
n.2111G>A
c.2146G>A (p.Val716Met)
c.1975G>A (p.Val659Met)
c.1627G>A (p.Val543Met)
gnomAD v4
2g.1496092G>CCA345698048TPOc.2110G>C (p.Val704Leu)
c.1591G>C (p.Val531Leu)
c.1939G>C (p.Val647Leu)
c.1897G>C (p.Val633Leu)
c.534G>C
n.424+2053G>C
c.532G>C (p.Val178Leu)
n.677+2053G>C
n.2111G>C
c.2146G>C (p.Val716Leu)
c.1975G>C (p.Val659Leu)
c.1627G>C (p.Val543Leu)
2g.1496092G>TCA345698050TPOc.2110G>T (p.Val704Leu)
c.1591G>T (p.Val531Leu)
c.1939G>T (p.Val647Leu)
c.1897G>T (p.Val633Leu)
c.534G>T
n.424+2053G>T
c.532G>T (p.Val178Leu)
n.677+2053G>T
n.2111G>T
c.2146G>T (p.Val716Leu)
c.1975G>T (p.Val659Leu)
c.1627G>T (p.Val543Leu)
gnomAD v4
2g.1496093T>ACA345698052TPOc.2111T>A (p.Val704Glu)
c.1592T>A (p.Val531Glu)
c.1940T>A (p.Val647Glu)
c.1898T>A (p.Val633Glu)
c.535T>A
n.424+2054T>A
c.533T>A (p.Val178Glu)
n.677+2054T>A
n.2112T>A
c.2147T>A (p.Val716Glu)
c.1976T>A (p.Val659Glu)
c.1628T>A (p.Val543Glu)
2g.1496093T>CCA345698053TPOc.2111T>C (p.Val704Ala)
c.1592T>C (p.Val531Ala)
c.1940T>C (p.Val647Ala)
c.1898T>C (p.Val633Ala)
c.535T>C
n.424+2054T>C
c.533T>C (p.Val178Ala)
n.677+2054T>C
n.2112T>C
c.2147T>C (p.Val716Ala)
c.1976T>C (p.Val659Ala)
c.1628T>C (p.Val543Ala)
2g.1496093T>GCA345698055TPOc.2111T>G (p.Val704Gly)
c.1592T>G (p.Val531Gly)
c.1940T>G (p.Val647Gly)
c.1898T>G (p.Val633Gly)
c.535T>G
n.424+2054T>G
c.533T>G (p.Val178Gly)
n.677+2054T>G
n.2112T>G
c.2147T>G (p.Val716Gly)
c.1976T>G (p.Val659Gly)
c.1628T>G (p.Val543Gly)
2g.1496094G>ACA424756963TPOc.2112G>A (p.Val704=)
c.1593G>A (p.Val531=)
c.1941G>A (p.Val647=)
c.1899G>A (p.Val633=)
c.536G>A
n.424+2055G>A
c.534G>A (p.Val178=)
n.677+2055G>A
n.2113G>A
c.2148G>A (p.Val716=)
c.1977G>A (p.Val659=)
c.1629G>A (p.Val543=)
gnomAD v4 COSMIC COSMIC
2g.1496094G>CCA424756965TPOc.2112G>C (p.Val704=)
c.1593G>C (p.Val531=)
c.1941G>C (p.Val647=)
c.1899G>C (p.Val633=)
c.536G>C
n.424+2055G>C
c.534G>C (p.Val178=)
n.677+2055G>C
n.2113G>C
c.2148G>C (p.Val716=)
c.1977G>C (p.Val659=)
c.1629G>C (p.Val543=)
2g.1496094G>TCA424756964TPOc.2112G>T (p.Val704=)
c.1593G>T (p.Val531=)
c.1941G>T (p.Val647=)
c.1899G>T (p.Val633=)
c.536G>T
n.424+2055G>T
c.534G>T (p.Val178=)
n.677+2055G>T
n.2113G>T
c.2148G>T (p.Val716=)
c.1977G>T (p.Val659=)
c.1629G>T (p.Val543=)
2g.1496095C>ACA345698057TPOc.2113C>A (p.Pro705Thr)
c.1594C>A (p.Pro532Thr)
c.1942C>A (p.Pro648Thr)
c.1900C>A (p.Pro634Thr)
c.537C>A
n.424+2056C>A
c.535C>A (p.Pro179Thr)
n.677+2056C>A
n.2114C>A
c.2149C>A (p.Pro717Thr)
c.1978C>A (p.Pro660Thr)
c.1630C>A (p.Pro544Thr)
2g.1496095C>GCA345698060TPOc.2113C>G (p.Pro705Ala)
c.1594C>G (p.Pro532Ala)
c.1942C>G (p.Pro648Ala)
c.1900C>G (p.Pro634Ala)
c.537C>G
n.424+2056C>G
c.535C>G (p.Pro179Ala)
n.677+2056C>G
n.2114C>G
c.2149C>G (p.Pro717Ala)
c.1978C>G (p.Pro660Ala)
c.1630C>G (p.Pro544Ala)
2g.1496095C>TCA345698062TPOc.2113C>T (p.Pro705Ser)
c.1594C>T (p.Pro532Ser)
c.1942C>T (p.Pro648Ser)
c.1900C>T (p.Pro634Ser)
c.537C>T
n.424+2056C>T
c.535C>T (p.Pro179Ser)
n.677+2056C>T
n.2114C>T
c.2149C>T (p.Pro717Ser)
c.1978C>T (p.Pro660Ser)
c.1630C>T (p.Pro544Ser)
gnomAD v4
2g.1496096C>ACA345698065TPOc.2114C>A (p.Pro705His)
c.1595C>A (p.Pro532His)
c.1943C>A (p.Pro648His)
c.1901C>A (p.Pro634His)
c.538C>A
n.424+2057C>A
c.536C>A (p.Pro179His)
n.677+2057C>A
n.2115C>A
c.2150C>A (p.Pro717His)
c.1979C>A (p.Pro660His)
c.1631C>A (p.Pro544His)
2g.1496096C=CA1233577894TPOc.2114C= (p.Pro705=)
c.1595C= (p.Pro532=)
c.1943C= (p.Pro648=)
c.1901C= (p.Pro634=)
c.538C=
n.424+2057C=
c.536C= (p.Pro179=)
n.677+2057C=
n.2115C=
c.2150C= (p.Pro717=)
c.1979C= (p.Pro660=)
c.1631C= (p.Pro544=)
2g.1496096C>GCA345698066TPOc.2114C>G (p.Pro705Arg)
c.1595C>G (p.Pro532Arg)
c.1943C>G (p.Pro648Arg)
c.1901C>G (p.Pro634Arg)
c.538C>G
n.424+2057C>G
c.536C>G (p.Pro179Arg)
n.677+2057C>G
n.2115C>G
c.2150C>G (p.Pro717Arg)
c.1979C>G (p.Pro660Arg)
c.1631C>G (p.Pro544Arg)
2g.1496096C>TCA1511954TPOc.2114C>T (p.Pro705Leu)
c.1595C>T (p.Pro532Leu)
c.1943C>T (p.Pro648Leu)
c.1901C>T (p.Pro634Leu)
c.538C>T
n.424+2057C>T
c.536C>T (p.Pro179Leu)
n.677+2057C>T
n.2115C>T
c.2150C>T (p.Pro717Leu)
c.1979C>T (p.Pro660Leu)
c.1631C>T (p.Pro544Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.1496097C>ACA424756971TPOc.2115C>A (p.Pro705=)
c.1596C>A (p.Pro532=)
c.1944C>A (p.Pro648=)
c.1902C>A (p.Pro634=)
c.539C>A
n.424+2058C>A
c.537C>A (p.Pro179=)
n.677+2058C>A
n.2116C>A
c.2151C>A (p.Pro717=)
c.1980C>A (p.Pro660=)
c.1632C>A (p.Pro544=)
2g.1496097C>GCA424756969TPOc.2115C>G (p.Pro705=)
c.1596C>G (p.Pro532=)
c.1944C>G (p.Pro648=)
c.1902C>G (p.Pro634=)
c.539C>G
n.424+2058C>G
c.537C>G (p.Pro179=)
n.677+2058C>G
n.2116C>G
c.2151C>G (p.Pro717=)
c.1980C>G (p.Pro660=)
c.1632C>G (p.Pro544=)
2g.1496097C>TCA424756970TPOc.2115C>T (p.Pro705=)
c.1596C>T (p.Pro532=)
c.1944C>T (p.Pro648=)
c.1902C>T (p.Pro634=)
c.539C>T
n.424+2058C>T
c.537C>T (p.Pro179=)
n.677+2058C>T
n.2116C>T
c.2151C>T (p.Pro717=)
c.1980C>T (p.Pro660=)
c.1632C>T (p.Pro544=)
gnomAD v4
2g.1496098A=CA1233577895TPOc.2116A= (p.Met706=)
c.1597A= (p.Met533=)
c.1945A= (p.Met649=)
c.1903A= (p.Met635=)
c.540A=
n.424+2059A=
c.538A= (p.Met180=)
n.677+2059A=
n.2117A=
c.2152A= (p.Met718=)
c.1981A= (p.Met661=)
c.1633A= (p.Met545=)
2g.1496098A>CCA345698072TPOc.2116A>C (p.Met706Leu)
c.1597A>C (p.Met533Leu)
c.1945A>C (p.Met649Leu)
c.1903A>C (p.Met635Leu)
c.540A>C
n.424+2059A>C
c.538A>C (p.Met180Leu)
n.677+2059A>C
n.2117A>C
c.2152A>C (p.Met718Leu)
c.1981A>C (p.Met661Leu)
c.1633A>C (p.Met545Leu)
2g.1496098A>GCA1511955TPOc.2116A>G (p.Met706Val)
c.1597A>G (p.Met533Val)
c.1945A>G (p.Met649Val)
c.1903A>G (p.Met635Val)
c.540A>G
n.424+2059A>G
c.538A>G (p.Met180Val)
n.677+2059A>G
n.2117A>G
c.2152A>G (p.Met718Val)
c.1981A>G (p.Met661Val)
c.1633A>G (p.Met545Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496098A>TCA345698070TPOc.2116A>T (p.Met706Leu)
c.1597A>T (p.Met533Leu)
c.1945A>T (p.Met649Leu)
c.1903A>T (p.Met635Leu)
c.540A>T
n.424+2059A>T
c.538A>T (p.Met180Leu)
n.677+2059A>T
n.2117A>T
c.2152A>T (p.Met718Leu)
c.1981A>T (p.Met661Leu)
c.1633A>T (p.Met545Leu)
2g.1496099T>ACA345698075TPOc.2117T>A (p.Met706Lys)
c.1598T>A (p.Met533Lys)
c.1946T>A (p.Met649Lys)
c.1904T>A (p.Met635Lys)
c.541T>A
n.424+2060T>A
c.539T>A (p.Met180Lys)
n.677+2060T>A
n.2118T>A
c.2153T>A (p.Met718Lys)
c.1982T>A (p.Met661Lys)
c.1634T>A (p.Met545Lys)
gnomAD v4
2g.1496099T>CCA1511956TPOc.2117T>C (p.Met706Thr)
c.1598T>C (p.Met533Thr)
c.1946T>C (p.Met649Thr)
c.1904T>C (p.Met635Thr)
c.541T>C
n.424+2060T>C
c.539T>C (p.Met180Thr)
n.677+2060T>C
n.2118T>C
c.2153T>C (p.Met718Thr)
c.1982T>C (p.Met661Thr)
c.1634T>C (p.Met545Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496099T>GCA345698076TPOc.2117T>G (p.Met706Arg)
c.1598T>G (p.Met533Arg)
c.1946T>G (p.Met649Arg)
c.1904T>G (p.Met635Arg)
c.541T>G
n.424+2060T>G
c.539T>G (p.Met180Arg)
n.677+2060T>G
n.2118T>G
c.2153T>G (p.Met718Arg)
c.1982T>G (p.Met661Arg)
c.1634T>G (p.Met545Arg)
2g.1496099T=CA1233577896TPOc.2117T= (p.Met706=)
c.1598T= (p.Met533=)
c.1946T= (p.Met649=)
c.1904T= (p.Met635=)
c.541T=
n.424+2060T=
c.539T= (p.Met180=)
n.677+2060T=
n.2118T=
c.2153T= (p.Met718=)
c.1982T= (p.Met661=)
c.1634T= (p.Met545=)
2g.1496100G>ACA345698077TPOc.2118G>A (p.Met706Ile)
c.1599G>A (p.Met533Ile)
c.1947G>A (p.Met649Ile)
c.1905G>A (p.Met635Ile)
c.542G>A
n.424+2061G>A
c.540G>A (p.Met180Ile)
n.677+2061G>A
n.2119G>A
c.2154G>A (p.Met718Ile)
c.1983G>A (p.Met661Ile)
c.1635G>A (p.Met545Ile)
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.1496100G>CCA345698078TPOc.2118G>C (p.Met706Ile)
c.1599G>C (p.Met533Ile)
c.1947G>C (p.Met649Ile)
c.1905G>C (p.Met635Ile)
c.542G>C
n.424+2061G>C
c.540G>C (p.Met180Ile)
n.677+2061G>C
n.2119G>C
c.2154G>C (p.Met718Ile)
c.1983G>C (p.Met661Ile)
c.1635G>C (p.Met545Ile)
2g.1496100G=CA1233577897TPOc.2118G= (p.Met706=)
c.1599G= (p.Met533=)
c.1947G= (p.Met649=)
c.1905G= (p.Met635=)
c.542G=
n.424+2061G=
c.540G= (p.Met180=)
n.677+2061G=
n.2119G=
c.2154G= (p.Met718=)
c.1983G= (p.Met661=)
c.1635G= (p.Met545=)
2g.1496100G>TCA345698079TPOc.2118G>T (p.Met706Ile)
c.1599G>T (p.Met533Ile)
c.1947G>T (p.Met649Ile)
c.1905G>T (p.Met635Ile)
c.542G>T
n.424+2061G>T
c.540G>T (p.Met180Ile)
n.677+2061G>T
n.2119G>T
c.2154G>T (p.Met718Ile)
c.1983G>T (p.Met661Ile)
c.1635G>T (p.Met545Ile)
2g.1496101G>ACA345698080TPOc.2119G>A (p.Asp707Asn)
c.1600G>A (p.Asp534Asn)
c.1948G>A (p.Asp650Asn)
c.1906G>A (p.Asp636Asn)
c.543G>A
n.424+2062G>A
c.541G>A (p.Asp181Asn)
n.677+2062G>A
n.2120G>A
c.2155G>A (p.Asp719Asn)
c.1984G>A (p.Asp662Asn)
c.1636G>A (p.Asp546Asn)
COSMIC
2g.1496101G>CCA345698081TPOc.2119G>C (p.Asp707His)
c.1600G>C (p.Asp534His)
c.1948G>C (p.Asp650His)
c.1906G>C (p.Asp636His)
c.543G>C
n.424+2062G>C
c.541G>C (p.Asp181His)
n.677+2062G>C
n.2120G>C
c.2155G>C (p.Asp719His)
c.1984G>C (p.Asp662His)
c.1636G>C (p.Asp546His)
2g.1496101G=CA1233577898TPOc.2119G= (p.Asp707=)
c.1600G= (p.Asp534=)
c.1948G= (p.Asp650=)
c.1906G= (p.Asp636=)
c.543G=
n.424+2062G=
c.541G= (p.Asp181=)
n.677+2062G=
n.2120G=
c.2155G= (p.Asp719=)
c.1984G= (p.Asp662=)
c.1636G= (p.Asp546=)
2g.1496101G>TCA1511957TPOc.2119G>T (p.Asp707Tyr)
c.1600G>T (p.Asp534Tyr)
c.1948G>T (p.Asp650Tyr)
c.1906G>T (p.Asp636Tyr)
c.543G>T
n.424+2062G>T
c.541G>T (p.Asp181Tyr)
n.677+2062G>T
n.2120G>T
c.2155G>T (p.Asp719Tyr)
c.1984G>T (p.Asp662Tyr)
c.1636G>T (p.Asp546Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496102A>CCA345698082TPOc.2120A>C (p.Asp707Ala)
c.1601A>C (p.Asp534Ala)
c.1949A>C (p.Asp650Ala)
c.1907A>C (p.Asp636Ala)
c.544A>C
n.424+2063A>C
c.542A>C (p.Asp181Ala)
n.677+2063A>C
n.2121A>C
c.2156A>C (p.Asp719Ala)
c.1985A>C (p.Asp662Ala)
c.1637A>C (p.Asp546Ala)
2g.1496102A>GCA345698083TPOc.2120A>G (p.Asp707Gly)
c.1601A>G (p.Asp534Gly)
c.1949A>G (p.Asp650Gly)
c.1907A>G (p.Asp636Gly)
c.544A>G
n.424+2063A>G
c.542A>G (p.Asp181Gly)
n.677+2063A>G
n.2121A>G
c.2156A>G (p.Asp719Gly)
c.1985A>G (p.Asp662Gly)
c.1637A>G (p.Asp546Gly)
2g.1496102A>TCA345698084TPOc.2120A>T (p.Asp707Val)
c.1601A>T (p.Asp534Val)
c.1949A>T (p.Asp650Val)
c.1907A>T (p.Asp636Val)
c.544A>T
n.424+2063A>T
c.542A>T (p.Asp181Val)
n.677+2063A>T
n.2121A>T
c.2156A>T (p.Asp719Val)
c.1985A>T (p.Asp662Val)
c.1637A>T (p.Asp546Val)
2g.1496103T>ACA345698085TPOc.2121T>A (p.Asp707Glu)
c.1602T>A (p.Asp534Glu)
c.1950T>A (p.Asp650Glu)
c.1908T>A (p.Asp636Glu)
c.545T>A
n.424+2064T>A
c.543T>A (p.Asp181Glu)
n.677+2064T>A
n.2122T>A
c.2157T>A (p.Asp719Glu)
c.1986T>A (p.Asp662Glu)
c.1638T>A (p.Asp546Glu)
2g.1496103T>CCA424756980TPOc.2121T>C (p.Asp707=)
c.1602T>C (p.Asp534=)
c.1950T>C (p.Asp650=)
c.1908T>C (p.Asp636=)
c.545T>C
n.424+2064T>C
c.543T>C (p.Asp181=)
n.677+2064T>C
n.2122T>C
c.2157T>C (p.Asp719=)
c.1986T>C (p.Asp662=)
c.1638T>C (p.Asp546=)
gnomAD v4
2g.1496103T>GCA345698086TPOc.2121T>G (p.Asp707Glu)
c.1602T>G (p.Asp534Glu)
c.1950T>G (p.Asp650Glu)
c.1908T>G (p.Asp636Glu)
c.545T>G
n.424+2064T>G
c.543T>G (p.Asp181Glu)
n.677+2064T>G
n.2122T>G
c.2157T>G (p.Asp719Glu)
c.1986T>G (p.Asp662Glu)
c.1638T>G (p.Asp546Glu)
2g.1496104G>ACA345698088TPOc.2122G>A (p.Ala708Thr)
c.1603G>A (p.Ala535Thr)
c.1951G>A (p.Ala651Thr)
c.1909G>A (p.Ala637Thr)
c.546G>A
n.424+2065G>A
c.544G>A (p.Ala182Thr)
n.677+2065G>A
n.2123G>A
c.2158G>A (p.Ala720Thr)
c.1987G>A (p.Ala663Thr)
c.1639G>A (p.Ala547Thr)
2g.1496104G>CCA345698089TPOc.2122G>C (p.Ala708Pro)
c.1603G>C (p.Ala535Pro)
c.1951G>C (p.Ala651Pro)
c.1909G>C (p.Ala637Pro)
c.546G>C
n.424+2065G>C
c.544G>C (p.Ala182Pro)
n.677+2065G>C
n.2123G>C
c.2158G>C (p.Ala720Pro)
c.1987G>C (p.Ala663Pro)
c.1639G>C (p.Ala547Pro)
2g.1496104G>TCA345698087TPOc.2122G>T (p.Ala708Ser)
c.1603G>T (p.Ala535Ser)
c.1951G>T (p.Ala651Ser)
c.1909G>T (p.Ala637Ser)
c.546G>T
n.424+2065G>T
c.544G>T (p.Ala182Ser)
n.677+2065G>T
n.2123G>T
c.2158G>T (p.Ala720Ser)
c.1987G>T (p.Ala663Ser)
c.1639G>T (p.Ala547Ser)
2g.1496105C>ACA345698091TPOc.2123C>A (p.Ala708Asp)
c.1604C>A (p.Ala535Asp)
c.1952C>A (p.Ala651Asp)
c.1910C>A (p.Ala637Asp)
c.547C>A
n.424+2066C>A
c.545C>A (p.Ala182Asp)
n.677+2066C>A
n.2124C>A
c.2159C>A (p.Ala720Asp)
c.1988C>A (p.Ala663Asp)
c.1640C>A (p.Ala547Asp)
2g.1496105C>GCA345698090TPOc.2123C>G (p.Ala708Gly)
c.1604C>G (p.Ala535Gly)
c.1952C>G (p.Ala651Gly)
c.1910C>G (p.Ala637Gly)
c.547C>G
n.424+2066C>G
c.545C>G (p.Ala182Gly)
n.677+2066C>G
n.2124C>G
c.2159C>G (p.Ala720Gly)
c.1988C>G (p.Ala663Gly)
c.1640C>G (p.Ala547Gly)
2g.1496105C>TCA345698092TPOc.2123C>T (p.Ala708Val)
c.1604C>T (p.Ala535Val)
c.1952C>T (p.Ala651Val)
c.1910C>T (p.Ala637Val)
c.547C>T
n.424+2066C>T
c.545C>T (p.Ala182Val)
n.677+2066C>T
n.2124C>T
c.2159C>T (p.Ala720Val)
c.1988C>T (p.Ala663Val)
c.1640C>T (p.Ala547Val)
2g.1496106C>ACA424756984TPOc.2124C>A (p.Ala708=)
c.1605C>A (p.Ala535=)
c.1953C>A (p.Ala651=)
c.1911C>A (p.Ala637=)
c.548C>A
n.424+2067C>A
c.546C>A (p.Ala182=)
n.677+2067C>A
n.2125C>A
c.2160C>A (p.Ala720=)
c.1989C>A (p.Ala663=)
c.1641C>A (p.Ala547=)
2g.1496106C>GCA424756985TPOc.2124C>G (p.Ala708=)
c.1605C>G (p.Ala535=)
c.1953C>G (p.Ala651=)
c.1911C>G (p.Ala637=)
c.548C>G
n.424+2067C>G
c.546C>G (p.Ala182=)
n.677+2067C>G
n.2125C>G
c.2160C>G (p.Ala720=)
c.1989C>G (p.Ala663=)
c.1641C>G (p.Ala547=)
2g.1496106C>TCA424756986TPOc.2124C>T (p.Ala708=)
c.1605C>T (p.Ala535=)
c.1953C>T (p.Ala651=)
c.1911C>T (p.Ala637=)
c.548C>T
n.424+2067C>T
c.546C>T (p.Ala182=)
n.677+2067C>T
n.2125C>T
c.2160C>T (p.Ala720=)
c.1989C>T (p.Ala663=)
c.1641C>T (p.Ala547=)
gnomAD v4 COSMIC COSMIC
2g.1496107T>ACA345698093TPOc.2125T>A (p.Phe709Ile)
c.1606T>A (p.Phe536Ile)
c.1954T>A (p.Phe652Ile)
c.1912T>A (p.Phe638Ile)
c.549T>A
n.424+2068T>A
c.547T>A (p.Phe183Ile)
n.677+2068T>A
n.2126T>A
c.2161T>A (p.Phe721Ile)
c.1990T>A (p.Phe664Ile)
c.1642T>A (p.Phe548Ile)
2g.1496107T>CCA345698095TPOc.2125T>C (p.Phe709Leu)
c.1606T>C (p.Phe536Leu)
c.1954T>C (p.Phe652Leu)
c.1912T>C (p.Phe638Leu)
c.549T>C
n.424+2068T>C
c.547T>C (p.Phe183Leu)
n.677+2068T>C
n.2126T>C
c.2161T>C (p.Phe721Leu)
c.1990T>C (p.Phe664Leu)
c.1642T>C (p.Phe548Leu)
2g.1496107T>GCA345698094TPOc.2125T>G (p.Phe709Val)
c.1606T>G (p.Phe536Val)
c.1954T>G (p.Phe652Val)
c.1912T>G (p.Phe638Val)
c.549T>G
n.424+2068T>G
c.547T>G (p.Phe183Val)
n.677+2068T>G
n.2126T>G
c.2161T>G (p.Phe721Val)
c.1990T>G (p.Phe664Val)
c.1642T>G (p.Phe548Val)
2g.1496108T>ACA345698096TPOc.2126T>A (p.Phe709Tyr)
c.1607T>A (p.Phe536Tyr)
c.1955T>A (p.Phe652Tyr)
c.1913T>A (p.Phe638Tyr)
c.550T>A
n.424+2069T>A
c.548T>A (p.Phe183Tyr)
n.677+2069T>A
n.2127T>A
c.2162T>A (p.Phe721Tyr)
c.1991T>A (p.Phe664Tyr)
c.1643T>A (p.Phe548Tyr)
2g.1496108T>CCA345698097TPOc.2126T>C (p.Phe709Ser)
c.1607T>C (p.Phe536Ser)
c.1955T>C (p.Phe652Ser)
c.1913T>C (p.Phe638Ser)
c.550T>C
n.424+2069T>C
c.548T>C (p.Phe183Ser)
n.677+2069T>C
n.2127T>C
c.2162T>C (p.Phe721Ser)
c.1991T>C (p.Phe664Ser)
c.1643T>C (p.Phe548Ser)
2g.1496108T>GCA345698098TPOc.2126T>G (p.Phe709Cys)
c.1607T>G (p.Phe536Cys)
c.1955T>G (p.Phe652Cys)
c.1913T>G (p.Phe638Cys)
c.550T>G
n.424+2069T>G
c.548T>G (p.Phe183Cys)
n.677+2069T>G
n.2127T>G
c.2162T>G (p.Phe721Cys)
c.1991T>G (p.Phe664Cys)
c.1643T>G (p.Phe548Cys)
2g.1496109C>ACA345698099TPOc.2127C>A (p.Phe709Leu)
c.1608C>A (p.Phe536Leu)
c.1956C>A (p.Phe652Leu)
c.1914C>A (p.Phe638Leu)
c.551C>A
n.424+2070C>A
c.549C>A (p.Phe183Leu)
n.677+2070C>A
n.2128C>A
c.2163C>A (p.Phe721Leu)
c.1992C>A (p.Phe664Leu)
c.1644C>A (p.Phe548Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1496109C=CA1233577899TPOc.2127C= (p.Phe709=)
c.1608C= (p.Phe536=)
c.1956C= (p.Phe652=)
c.1914C= (p.Phe638=)
c.551C=
n.424+2070C=
c.549C= (p.Phe183=)
n.677+2070C=
n.2128C=
c.2163C= (p.Phe721=)
c.1992C= (p.Phe664=)
c.1644C= (p.Phe548=)
2g.1496109C>GCA345698100TPOc.2127C>G (p.Phe709Leu)
c.1608C>G (p.Phe536Leu)
c.1956C>G (p.Phe652Leu)
c.1914C>G (p.Phe638Leu)
c.551C>G
n.424+2070C>G
c.549C>G (p.Phe183Leu)
n.677+2070C>G
n.2128C>G
c.2163C>G (p.Phe721Leu)
c.1992C>G (p.Phe664Leu)
c.1644C>G (p.Phe548Leu)
dbSNP gnomAD v2
2g.1496109C>TCA1511958TPOc.2127C>T (p.Phe709=)
c.1608C>T (p.Phe536=)
c.1956C>T (p.Phe652=)
c.1914C>T (p.Phe638=)
c.551C>T
n.424+2070C>T
c.549C>T (p.Phe183=)
n.677+2070C>T
n.2128C>T
c.2163C>T (p.Phe721=)
c.1992C>T (p.Phe664=)
c.1644C>T (p.Phe548=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496110C>ACA345698101TPOc.2128C>A (p.Gln710Lys)
c.1609C>A (p.Gln537Lys)
c.1957C>A (p.Gln653Lys)
c.1915C>A (p.Gln639Lys)
c.552C>A
n.424+2071C>A
c.550C>A (p.Gln184Lys)
n.677+2071C>A
n.2129C>A
c.2164C>A (p.Gln722Lys)
c.1993C>A (p.Gln665Lys)
c.1645C>A (p.Gln549Lys)
2g.1496110C>GCA345698102TPOc.2128C>G (p.Gln710Glu)
c.1609C>G (p.Gln537Glu)
c.1957C>G (p.Gln653Glu)
c.1915C>G (p.Gln639Glu)
c.552C>G
n.424+2071C>G
c.550C>G (p.Gln184Glu)
n.677+2071C>G
n.2129C>G
c.2164C>G (p.Gln722Glu)
c.1993C>G (p.Gln665Glu)
c.1645C>G (p.Gln549Glu)
2g.1496110C>TCA345698103TPOc.2128C>T (p.Gln710Ter)
c.1609C>T (p.Gln537Ter)
c.1957C>T (p.Gln653Ter)
c.1915C>T (p.Gln639Ter)
c.552C>T
n.424+2071C>T
c.550C>T (p.Gln184Ter)
n.677+2071C>T
n.2129C>T
c.2164C>T (p.Gln722Ter)
c.1993C>T (p.Gln665Ter)
c.1645C>T (p.Gln549Ter)
2g.1496111A>CCA345698104TPOc.2129A>C (p.Gln710Pro)
c.1610A>C (p.Gln537Pro)
c.1958A>C (p.Gln653Pro)
c.1916A>C (p.Gln639Pro)
c.553A>C
n.424+2072A>C
c.551A>C (p.Gln184Pro)
n.677+2072A>C
n.2130A>C
c.2165A>C (p.Gln722Pro)
c.1994A>C (p.Gln665Pro)
c.1646A>C (p.Gln549Pro)
2g.1496111A>GCA345698105TPOc.2129A>G (p.Gln710Arg)
c.1610A>G (p.Gln537Arg)
c.1958A>G (p.Gln653Arg)
c.1916A>G (p.Gln639Arg)
c.553A>G
n.424+2072A>G
c.551A>G (p.Gln184Arg)
n.677+2072A>G
n.2130A>G
c.2165A>G (p.Gln722Arg)
c.1994A>G (p.Gln665Arg)
c.1646A>G (p.Gln549Arg)
2g.1496111A>TCA345698106TPOc.2129A>T (p.Gln710Leu)
c.1610A>T (p.Gln537Leu)
c.1958A>T (p.Gln653Leu)
c.1916A>T (p.Gln639Leu)
c.553A>T
n.424+2072A>T
c.551A>T (p.Gln184Leu)
n.677+2072A>T
n.2130A>T
c.2165A>T (p.Gln722Leu)
c.1994A>T (p.Gln665Leu)
c.1646A>T (p.Gln549Leu)
2g.1496112A>CCA345698107TPOc.2130A>C (p.Gln710His)
c.1611A>C (p.Gln537His)
c.1959A>C (p.Gln653His)
c.1917A>C (p.Gln639His)
c.554A>C
n.424+2073A>C
c.552A>C (p.Gln184His)
n.677+2073A>C
n.2131A>C
c.2166A>C (p.Gln722His)
c.1995A>C (p.Gln665His)
c.1647A>C (p.Gln549His)
2g.1496112A>GCA424756993TPOc.2130A>G (p.Gln710=)
c.1611A>G (p.Gln537=)
c.1959A>G (p.Gln653=)
c.1917A>G (p.Gln639=)
c.554A>G
n.424+2073A>G
c.552A>G (p.Gln184=)
n.677+2073A>G
n.2131A>G
c.2166A>G (p.Gln722=)
c.1995A>G (p.Gln665=)
c.1647A>G (p.Gln549=)
2g.1496112A>TCA345698108TPOc.2130A>T (p.Gln710His)
c.1611A>T (p.Gln537His)
c.1959A>T (p.Gln653His)
c.1917A>T (p.Gln639His)
c.554A>T
n.424+2073A>T
c.552A>T (p.Gln184His)
n.677+2073A>T
n.2131A>T
c.2166A>T (p.Gln722His)
c.1995A>T (p.Gln665His)
c.1647A>T (p.Gln549His)
2g.1496113G>ACA345698109TPOc.2131G>A (p.Val711Ile)
c.1612G>A (p.Val538Ile)
c.1960G>A (p.Val654Ile)
c.1918G>A (p.Val640Ile)
c.555G>A
n.424+2074G>A
c.553G>A (p.Val185Ile)
n.677+2074G>A
n.2132G>A
c.2167G>A (p.Val723Ile)
c.1996G>A (p.Val666Ile)
c.1648G>A (p.Val550Ile)
2g.1496113G>CCA345698110TPOc.2131G>C (p.Val711Leu)
c.1612G>C (p.Val538Leu)
c.1960G>C (p.Val654Leu)
c.1918G>C (p.Val640Leu)
c.555G>C
n.424+2074G>C
c.553G>C (p.Val185Leu)
n.677+2074G>C
n.2132G>C
c.2167G>C (p.Val723Leu)
c.1996G>C (p.Val666Leu)
c.1648G>C (p.Val550Leu)
2g.1496113G>TCA345698111TPOc.2131G>T (p.Val711Phe)
c.1612G>T (p.Val538Phe)
c.1960G>T (p.Val654Phe)
c.1918G>T (p.Val640Phe)
c.555G>T
n.424+2074G>T
c.553G>T (p.Val185Phe)
n.677+2074G>T
n.2132G>T
c.2167G>T (p.Val723Phe)
c.1996G>T (p.Val666Phe)
c.1648G>T (p.Val550Phe)
2g.1496114T>ACA345698112TPOc.2132T>A (p.Val711Asp)
c.1613T>A (p.Val538Asp)
c.1961T>A (p.Val654Asp)
c.1919T>A (p.Val640Asp)
c.556T>A
n.424+2075T>A
c.554T>A (p.Val185Asp)
n.677+2075T>A
n.2133T>A
c.2168T>A (p.Val723Asp)
c.1997T>A (p.Val666Asp)
c.1649T>A (p.Val550Asp)
2g.1496114T>CCA345698113TPOc.2132T>C (p.Val711Ala)
c.1613T>C (p.Val538Ala)
c.1961T>C (p.Val654Ala)
c.1919T>C (p.Val640Ala)
c.556T>C
n.424+2075T>C
c.554T>C (p.Val185Ala)
n.677+2075T>C
n.2133T>C
c.2168T>C (p.Val723Ala)
c.1997T>C (p.Val666Ala)
c.1649T>C (p.Val550Ala)
gnomAD v4
2g.1496114T>GCA345698114TPOc.2132T>G (p.Val711Gly)
c.1613T>G (p.Val538Gly)
c.1961T>G (p.Val654Gly)
c.1919T>G (p.Val640Gly)
c.556T>G
n.424+2075T>G
c.554T>G (p.Val185Gly)
n.677+2075T>G
n.2133T>G
c.2168T>G (p.Val723Gly)
c.1997T>G (p.Val666Gly)
c.1649T>G (p.Val550Gly)
2g.1496115C>ACA424756999TPOc.2133C>A (p.Val711=)
c.1614C>A (p.Val538=)
c.1962C>A (p.Val654=)
c.1920C>A (p.Val640=)
c.557C>A
n.424+2076C>A
c.555C>A (p.Val185=)
n.677+2076C>A
n.2134C>A
c.2169C>A (p.Val723=)
c.1998C>A (p.Val666=)
c.1650C>A (p.Val550=)
2g.1496115C=CA1233577900TPOc.2133C= (p.Val711=)
c.1614C= (p.Val538=)
c.1962C= (p.Val654=)
c.1920C= (p.Val640=)
c.557C=
n.424+2076C=
c.555C= (p.Val185=)
n.677+2076C=
n.2134C=
c.2169C= (p.Val723=)
c.1998C= (p.Val666=)
c.1650C= (p.Val550=)
2g.1496115C>GCA424757000TPOc.2133C>G (p.Val711=)
c.1614C>G (p.Val538=)
c.1962C>G (p.Val654=)
c.1920C>G (p.Val640=)
c.557C>G
n.424+2076C>G
c.555C>G (p.Val185=)
n.677+2076C>G
n.2134C>G
c.2169C>G (p.Val723=)
c.1998C>G (p.Val666=)
c.1650C>G (p.Val550=)
2g.1496115C>TCA1511959TPOc.2133C>T (p.Val711=)
c.1614C>T (p.Val538=)
c.1962C>T (p.Val654=)
c.1920C>T (p.Val640=)
c.557C>T
n.424+2076C>T
c.555C>T (p.Val185=)
n.677+2076C>T
n.2134C>T
c.2169C>T (p.Val723=)
c.1998C>T (p.Val666=)
c.1650C>T (p.Val550=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.1496116G>ACA345698115TPOc.2134G>A (p.Gly712Ser)
c.1615G>A (p.Gly539Ser)
c.1963G>A (p.Gly655Ser)
c.1921G>A (p.Gly641Ser)
c.558G>A
n.424+2077G>A
c.556G>A (p.Gly186Ser)
n.677+2077G>A
n.2135G>A
c.2170G>A (p.Gly724Ser)
c.1999G>A (p.Gly667Ser)
c.1651G>A (p.Gly551Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.1496116G>CCA345698116TPOc.2134G>C (p.Gly712Arg)
c.1615G>C (p.Gly539Arg)
c.1963G>C (p.Gly655Arg)
c.1921G>C (p.Gly641Arg)
c.558G>C
n.424+2077G>C
c.556G>C (p.Gly186Arg)
n.677+2077G>C
n.2135G>C
c.2170G>C (p.Gly724Arg)
c.1999G>C (p.Gly667Arg)
c.1651G>C (p.Gly551Arg)
gnomAD v4
2g.1496116G=CA1233577901TPOc.2134G= (p.Gly712=)
c.1615G= (p.Gly539=)
c.1963G= (p.Gly655=)
c.1921G= (p.Gly641=)
c.558G=
n.424+2077G=
c.556G= (p.Gly186=)
n.677+2077G=
n.2135G=
c.2170G= (p.Gly724=)
c.1999G= (p.Gly667=)
c.1651G= (p.Gly551=)
2g.1496116G>TCA345698117TPOc.2134G>T (p.Gly712Cys)
c.1615G>T (p.Gly539Cys)
c.1963G>T (p.Gly655Cys)
c.1921G>T (p.Gly641Cys)
c.558G>T
n.424+2077G>T
c.556G>T (p.Gly186Cys)
n.677+2077G>T
n.2135G>T
c.2170G>T (p.Gly724Cys)
c.1999G>T (p.Gly667Cys)
c.1651G>T (p.Gly551Cys)
2g.1496117G>ACA41426958TPOc.2135G>A (p.Gly712Asp)
c.1616G>A (p.Gly539Asp)
c.1964G>A (p.Gly655Asp)
c.1922G>A (p.Gly641Asp)
c.559G>A
n.424+2078G>A
c.557G>A (p.Gly186Asp)
n.677+2078G>A
n.2136G>A
c.2171G>A (p.Gly724Asp)
c.2000G>A (p.Gly667Asp)
c.1652G>A (p.Gly551Asp)
dbSNP gnomAD v4 COSMIC
2g.1496117G>CCA345698118TPOc.2135G>C (p.Gly712Ala)
c.1616G>C (p.Gly539Ala)
c.1964G>C (p.Gly655Ala)
c.1922G>C (p.Gly641Ala)
c.559G>C
n.424+2078G>C
c.557G>C (p.Gly186Ala)
n.677+2078G>C
n.2136G>C
c.2171G>C (p.Gly724Ala)
c.2000G>C (p.Gly667Ala)
c.1652G>C (p.Gly551Ala)
2g.1496117G=CA1233577902TPOc.2135G= (p.Gly712=)
c.1616G= (p.Gly539=)
c.1964G= (p.Gly655=)
c.1922G= (p.Gly641=)
c.559G=
n.424+2078G=
c.557G= (p.Gly186=)
n.677+2078G=
n.2136G=
c.2171G= (p.Gly724=)
c.2000G= (p.Gly667=)
c.1652G= (p.Gly551=)
2g.1496117G>TCA345698119TPOc.2135G>T (p.Gly712Val)
c.1616G>T (p.Gly539Val)
c.1964G>T (p.Gly655Val)
c.1922G>T (p.Gly641Val)
c.559G>T
n.424+2078G>T
c.557G>T (p.Gly186Val)
n.677+2078G>T
n.2136G>T
c.2171G>T (p.Gly724Val)
c.2000G>T (p.Gly667Val)
c.1652G>T (p.Gly551Val)
dbSNP gnomAD v3 gnomAD v4
2g.1496118C>ACA424757003TPOc.2136C>A (p.Gly712=)
c.1617C>A (p.Gly539=)
c.1965C>A (p.Gly655=)
c.1923C>A (p.Gly641=)
c.560C>A
n.424+2079C>A
c.558C>A (p.Gly186=)
n.677+2079C>A
n.2137C>A
c.2172C>A (p.Gly724=)
c.2001C>A (p.Gly667=)
c.1653C>A (p.Gly551=)
2g.1496118C>GCA424757007TPOc.2136C>G (p.Gly712=)
c.1617C>G (p.Gly539=)
c.1965C>G (p.Gly655=)
c.1923C>G (p.Gly641=)
c.560C>G
n.424+2079C>G
c.558C>G (p.Gly186=)
n.677+2079C>G
n.2137C>G
c.2172C>G (p.Gly724=)
c.2001C>G (p.Gly667=)
c.1653C>G (p.Gly551=)
2g.1496118C>TCA424757005TPOc.2136C>T (p.Gly712=)
c.1617C>T (p.Gly539=)
c.1965C>T (p.Gly655=)
c.1923C>T (p.Gly641=)
c.560C>T
n.424+2079C>T
c.558C>T (p.Gly186=)
n.677+2079C>T
n.2137C>T
c.2172C>T (p.Gly724=)
c.2001C>T (p.Gly667=)
c.1653C>T (p.Gly551=)
2g.1496119A>CCA345698122TPOc.2137A>C (p.Lys713Gln)
c.1618A>C (p.Lys540Gln)
c.1966A>C (p.Lys656Gln)
c.1924A>C (p.Lys642Gln)
c.561A>C
n.424+2080A>C
c.559A>C (p.Lys187Gln)
n.677+2080A>C
n.2138A>C
c.2173A>C (p.Lys725Gln)
c.2002A>C (p.Lys668Gln)
c.1654A>C (p.Lys552Gln)
2g.1496119A>GCA345698120TPOc.2137A>G (p.Lys713Glu)
c.1618A>G (p.Lys540Glu)
c.1966A>G (p.Lys656Glu)
c.1924A>G (p.Lys642Glu)
c.561A>G
n.424+2080A>G
c.559A>G (p.Lys187Glu)
n.677+2080A>G
n.2138A>G
c.2173A>G (p.Lys725Glu)
c.2002A>G (p.Lys668Glu)
c.1654A>G (p.Lys552Glu)
2g.1496119A>TCA345698121TPOc.2137A>T (p.Lys713Ter)
c.1618A>T (p.Lys540Ter)
c.1966A>T (p.Lys656Ter)
c.1924A>T (p.Lys642Ter)
c.561A>T
n.424+2080A>T
c.559A>T (p.Lys187Ter)
n.677+2080A>T
n.2138A>T
c.2173A>T (p.Lys725Ter)
c.2002A>T (p.Lys668Ter)
c.1654A>T (p.Lys552Ter)
2g.1496120A=CA1233577903TPOc.2138A= (p.Lys713=)
c.1619A= (p.Lys540=)
c.1967A= (p.Lys656=)
c.1925A= (p.Lys642=)
c.562A=
n.424+2081A=
c.560A= (p.Lys187=)
n.677+2081A=
n.2139A=
c.2174A= (p.Lys725=)
c.2003A= (p.Lys668=)
c.1655A= (p.Lys552=)
2g.1496120A>CCA345698123TPOc.2138A>C (p.Lys713Thr)
c.1619A>C (p.Lys540Thr)
c.1967A>C (p.Lys656Thr)
c.1925A>C (p.Lys642Thr)
c.562A>C
n.424+2081A>C
c.560A>C (p.Lys187Thr)
n.677+2081A>C
n.2139A>C
c.2174A>C (p.Lys725Thr)
c.2003A>C (p.Lys668Thr)
c.1655A>C (p.Lys552Thr)
2g.1496120A>GCA345698124TPOc.2138A>G (p.Lys713Arg)
c.1619A>G (p.Lys540Arg)
c.1967A>G (p.Lys656Arg)
c.1925A>G (p.Lys642Arg)
c.562A>G
n.424+2081A>G
c.560A>G (p.Lys187Arg)
n.677+2081A>G
n.2139A>G
c.2174A>G (p.Lys725Arg)
c.2003A>G (p.Lys668Arg)
c.1655A>G (p.Lys552Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1496120A>TCA345698125TPOc.2138A>T (p.Lys713Ile)
c.1619A>T (p.Lys540Ile)
c.1967A>T (p.Lys656Ile)
c.1925A>T (p.Lys642Ile)
c.562A>T
n.424+2081A>T
c.560A>T (p.Lys187Ile)
n.677+2081A>T
n.2139A>T
c.2174A>T (p.Lys725Ile)
c.2003A>T (p.Lys668Ile)
c.1655A>T (p.Lys552Ile)
2g.1496121A>CCA345698126TPOc.2139A>C (p.Lys713Asn)
c.1620A>C (p.Lys540Asn)
c.1968A>C (p.Lys656Asn)
c.1926A>C (p.Lys642Asn)
c.563A>C
n.424+2082A>C
c.561A>C (p.Lys187Asn)
n.677+2082A>C
n.2140A>C
c.2175A>C (p.Lys725Asn)
c.2004A>C (p.Lys668Asn)
c.1656A>C (p.Lys552Asn)
2g.1496121A>GCA424757014TPOc.2139A>G (p.Lys713=)
c.1620A>G (p.Lys540=)
c.1968A>G (p.Lys656=)
c.1926A>G (p.Lys642=)
c.563A>G
n.424+2082A>G
c.561A>G (p.Lys187=)
n.677+2082A>G
n.2140A>G
c.2175A>G (p.Lys725=)
c.2004A>G (p.Lys668=)
c.1656A>G (p.Lys552=)
2g.1496121A>TCA345698127TPOc.2139A>T (p.Lys713Asn)
c.1620A>T (p.Lys540Asn)
c.1968A>T (p.Lys656Asn)
c.1926A>T (p.Lys642Asn)
c.563A>T
n.424+2082A>T
c.561A>T (p.Lys187Asn)
n.677+2082A>T
n.2140A>T
c.2175A>T (p.Lys725Asn)
c.2004A>T (p.Lys668Asn)
c.1656A>T (p.Lys552Asn)
2g.1496122T>ACA345698130TPOc.2140T>A (p.Phe714Ile)
c.1621T>A (p.Phe541Ile)
c.1969T>A (p.Phe657Ile)
c.1927T>A (p.Phe643Ile)
c.564T>A
n.424+2083T>A
c.562T>A (p.Phe188Ile)
n.677+2083T>A
n.2141T>A
c.2176T>A (p.Phe726Ile)
c.2005T>A (p.Phe669Ile)
c.1657T>A (p.Phe553Ile)
2g.1496122T>CCA345698129TPOc.2140T>C (p.Phe714Leu)
c.1621T>C (p.Phe541Leu)
c.1969T>C (p.Phe657Leu)
c.1927T>C (p.Phe643Leu)
c.564T>C
n.424+2083T>C
c.562T>C (p.Phe188Leu)
n.677+2083T>C
n.2141T>C
c.2176T>C (p.Phe726Leu)
c.2005T>C (p.Phe669Leu)
c.1657T>C (p.Phe553Leu)
2g.1496122T>GCA345698128TPOc.2140T>G (p.Phe714Val)
c.1621T>G (p.Phe541Val)
c.1969T>G (p.Phe657Val)
c.1927T>G (p.Phe643Val)
c.564T>G
n.424+2083T>G
c.562T>G (p.Phe188Val)
n.677+2083T>G
n.2141T>G
c.2176T>G (p.Phe726Val)
c.2005T>G (p.Phe669Val)
c.1657T>G (p.Phe553Val)
2g.1496123delCA2657646881TPOc.2141del (p.Phe714SerfsTer14)
c.1622del (p.Phe541SerfsTer14)
c.1970del (p.Phe657SerfsTer14)
c.1928del (p.Phe643SerfsTer14)
c.565del
n.424+2084del
c.563del (p.Phe188SerfsTer14)
n.677+2084del
n.2142del
c.2177del (p.Phe726SerfsTer14)
c.2006del (p.Phe669SerfsTer14)
c.1658del (p.Phe553SerfsTer14)
gnomAD v4
2g.1496123T>ACA345698131TPOc.2141T>A (p.Phe714Tyr)
c.1622T>A (p.Phe541Tyr)
c.1970T>A (p.Phe657Tyr)
c.1928T>A (p.Phe643Tyr)
c.565T>A
n.424+2084T>A
c.563T>A (p.Phe188Tyr)
n.677+2084T>A
n.2142T>A
c.2177T>A (p.Phe726Tyr)
c.2006T>A (p.Phe669Tyr)
c.1658T>A (p.Phe553Tyr)
2g.1496123T>CCA345698132TPOc.2141T>C (p.Phe714Ser)
c.1622T>C (p.Phe541Ser)
c.1970T>C (p.Phe657Ser)
c.1928T>C (p.Phe643Ser)
c.565T>C
n.424+2084T>C
c.563T>C (p.Phe188Ser)
n.677+2084T>C
n.2142T>C
c.2177T>C (p.Phe726Ser)
c.2006T>C (p.Phe669Ser)
c.1658T>C (p.Phe553Ser)
2g.1496123T>GCA345698133TPOc.2141T>G (p.Phe714Cys)
c.1622T>G (p.Phe541Cys)
c.1970T>G (p.Phe657Cys)
c.1928T>G (p.Phe643Cys)
c.565T>G
n.424+2084T>G
c.563T>G (p.Phe188Cys)
n.677+2084T>G
n.2142T>G
c.2177T>G (p.Phe726Cys)
c.2006T>G (p.Phe669Cys)
c.1658T>G (p.Phe553Cys)
2g.1496124C>ACA345698134TPOc.2142C>A (p.Phe714Leu)
c.1623C>A (p.Phe541Leu)
c.1971C>A (p.Phe657Leu)
c.1929C>A (p.Phe643Leu)
c.566C>A
n.424+2085C>A
c.564C>A (p.Phe188Leu)
n.677+2085C>A
n.2143C>A
c.2178C>A (p.Phe726Leu)
c.2007C>A (p.Phe669Leu)
c.1659C>A (p.Phe553Leu)
2g.1496124C=CA1233577904TPOc.2142C= (p.Phe714=)
c.1623C= (p.Phe541=)
c.1971C= (p.Phe657=)
c.1929C= (p.Phe643=)
c.566C=
n.424+2085C=
c.564C= (p.Phe188=)
n.677+2085C=
n.2143C=
c.2178C= (p.Phe726=)
c.2007C= (p.Phe669=)
c.1659C= (p.Phe553=)
2g.1496124C>GCA345698135TPOc.2142C>G (p.Phe714Leu)
c.1623C>G (p.Phe541Leu)
c.1971C>G (p.Phe657Leu)
c.1929C>G (p.Phe643Leu)
c.566C>G
n.424+2085C>G
c.564C>G (p.Phe188Leu)
n.677+2085C>G
n.2143C>G
c.2178C>G (p.Phe726Leu)
c.2007C>G (p.Phe669Leu)
c.1659C>G (p.Phe553Leu)
2g.1496124C>TCA41426978TPOc.2142C>T (p.Phe714=)
c.1623C>T (p.Phe541=)
c.1971C>T (p.Phe657=)
c.1929C>T (p.Phe643=)
c.566C>T
n.424+2085C>T
c.564C>T (p.Phe188=)
n.677+2085C>T
n.2143C>T
c.2178C>T (p.Phe726=)
c.2007C>T (p.Phe669=)
c.1659C>T (p.Phe553=)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.1496125C>ACA345698138TPOc.2143C>A (p.Pro715Thr)
c.1624C>A (p.Pro542Thr)
c.1972C>A (p.Pro658Thr)
c.1930C>A (p.Pro644Thr)
c.567C>A
n.424+2086C>A
c.565C>A (p.Pro189Thr)
n.677+2086C>A
n.2144C>A
c.2179C>A (p.Pro727Thr)
c.2008C>A (p.Pro670Thr)
c.1660C>A (p.Pro554Thr)
2g.1496125C>GCA345698136TPOc.2143C>G (p.Pro715Ala)
c.1624C>G (p.Pro542Ala)
c.1972C>G (p.Pro658Ala)
c.1930C>G (p.Pro644Ala)
c.567C>G
n.424+2086C>G
c.565C>G (p.Pro189Ala)
n.677+2086C>G
n.2144C>G
c.2179C>G (p.Pro727Ala)
c.2008C>G (p.Pro670Ala)
c.1660C>G (p.Pro554Ala)
2g.1496125C>TCA345698137TPOc.2143C>T (p.Pro715Ser)
c.1624C>T (p.Pro542Ser)
c.1972C>T (p.Pro658Ser)
c.1930C>T (p.Pro644Ser)
c.567C>T
n.424+2086C>T
c.565C>T (p.Pro189Ser)
n.677+2086C>T
n.2144C>T
c.2179C>T (p.Pro727Ser)
c.2008C>T (p.Pro670Ser)
c.1660C>T (p.Pro554Ser)
COSMIC COSMIC
2g.1496126C>ACA345698139TPOc.2144C>A (p.Pro715His)
c.1625C>A (p.Pro542His)
c.1973C>A (p.Pro658His)
c.1931C>A (p.Pro644His)
c.568C>A
n.424+2087C>A
c.566C>A (p.Pro189His)
n.677+2087C>A
n.2145C>A
c.2180C>A (p.Pro727His)
c.2009C>A (p.Pro670His)
c.1661C>A (p.Pro554His)
2g.1496126C>GCA345698140TPOc.2144C>G (p.Pro715Arg)
c.1625C>G (p.Pro542Arg)
c.1973C>G (p.Pro658Arg)
c.1931C>G (p.Pro644Arg)
c.568C>G
n.424+2087C>G
c.566C>G (p.Pro189Arg)
n.677+2087C>G
n.2145C>G
c.2180C>G (p.Pro727Arg)
c.2009C>G (p.Pro670Arg)
c.1661C>G (p.Pro554Arg)
2g.1496126C>TCA345698141TPOc.2144C>T (p.Pro715Leu)
c.1625C>T (p.Pro542Leu)
c.1973C>T (p.Pro658Leu)
c.1931C>T (p.Pro644Leu)
c.568C>T
n.424+2087C>T
c.566C>T (p.Pro189Leu)
n.677+2087C>T
n.2145C>T
c.2180C>T (p.Pro727Leu)
c.2009C>T (p.Pro670Leu)
c.1661C>T (p.Pro554Leu)
gnomAD v4
2g.1496127C>ACA1511961TPOc.2145C>A (p.Pro715=)
c.1626C>A (p.Pro542=)
c.1974C>A (p.Pro658=)
c.1932C>A (p.Pro644=)
c.569C>A
n.424+2088C>A
c.567C>A (p.Pro189=)
n.677+2088C>A
n.2146C>A
c.2181C>A (p.Pro727=)
c.2010C>A (p.Pro670=)
c.1662C>A (p.Pro554=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.1496127C=CA1233577905TPOc.2145C= (p.Pro715=)
c.1626C= (p.Pro542=)
c.1974C= (p.Pro658=)
c.1932C= (p.Pro644=)
c.569C=
n.424+2088C=
c.567C= (p.Pro189=)
n.677+2088C=
n.2146C=
c.2181C= (p.Pro727=)
c.2010C= (p.Pro670=)
c.1662C= (p.Pro554=)
2g.1496127C>GCA424757037TPOc.2145C>G (p.Pro715=)
c.1626C>G (p.Pro542=)
c.1974C>G (p.Pro658=)
c.1932C>G (p.Pro644=)
c.569C>G
n.424+2088C>G
c.567C>G (p.Pro189=)
n.677+2088C>G
n.2146C>G
c.2181C>G (p.Pro727=)
c.2010C>G (p.Pro670=)
c.1662C>G (p.Pro554=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.1496127C>TCA1511960TPOc.2145C>T (p.Pro715=)
c.1626C>T (p.Pro542=)
c.1974C>T (p.Pro658=)
c.1932C>T (p.Pro644=)
c.569C>T
n.424+2088C>T
c.567C>T (p.Pro189=)
n.677+2088C>T
n.2146C>T
c.2181C>T (p.Pro727=)
c.2010C>T (p.Pro670=)
c.1662C>T (p.Pro554=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496128G>ACA1511962TPOc.2146G>A (p.Glu716Lys)
c.1627G>A (p.Glu543Lys)
c.1975G>A (p.Glu659Lys)
c.1933G>A (p.Glu645Lys)
c.570G>A
n.424+2089G>A
c.568G>A (p.Glu190Lys)
n.677+2089G>A
n.2147G>A
c.2182G>A (p.Glu728Lys)
c.2011G>A (p.Glu671Lys)
c.1663G>A (p.Glu555Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496128G>CCA345698142TPOc.2146G>C (p.Glu716Gln)
c.1627G>C (p.Glu543Gln)
c.1975G>C (p.Glu659Gln)
c.1933G>C (p.Glu645Gln)
c.570G>C
n.424+2089G>C
c.568G>C (p.Glu190Gln)
n.677+2089G>C
n.2147G>C
c.2182G>C (p.Glu728Gln)
c.2011G>C (p.Glu671Gln)
c.1663G>C (p.Glu555Gln)
2g.1496128G=CA1233577906TPOc.2146G= (p.Glu716=)
c.1627G= (p.Glu543=)
c.1975G= (p.Glu659=)
c.1933G= (p.Glu645=)
c.570G=
n.424+2089G=
c.568G= (p.Glu190=)
n.677+2089G=
n.2147G=
c.2182G= (p.Glu728=)
c.2011G= (p.Glu671=)
c.1663G= (p.Glu555=)
2g.1496128G>TCA345698143TPOc.2146G>T (p.Glu716Ter)
c.1627G>T (p.Glu543Ter)
c.1975G>T (p.Glu659Ter)
c.1933G>T (p.Glu645Ter)
c.570G>T
n.424+2089G>T
c.568G>T (p.Glu190Ter)
n.677+2089G>T
n.2147G>T
c.2182G>T (p.Glu728Ter)
c.2011G>T (p.Glu671Ter)
c.1663G>T (p.Glu555Ter)
2g.1496129A>CCA345698144TPOc.2147A>C (p.Glu716Ala)
c.1628A>C (p.Glu543Ala)
c.1976A>C (p.Glu659Ala)
c.1934A>C (p.Glu645Ala)
c.571A>C
n.424+2090A>C
c.569A>C (p.Glu190Ala)
n.677+2090A>C
n.2148A>C
c.2183A>C (p.Glu728Ala)
c.2012A>C (p.Glu671Ala)
c.1664A>C (p.Glu555Ala)
gnomAD v4
2g.1496129A>GCA345698145TPOc.2147A>G (p.Glu716Gly)
c.1628A>G (p.Glu543Gly)
c.1976A>G (p.Glu659Gly)
c.1934A>G (p.Glu645Gly)
c.571A>G
n.424+2090A>G
c.569A>G (p.Glu190Gly)
n.677+2090A>G
n.2148A>G
c.2183A>G (p.Glu728Gly)
c.2012A>G (p.Glu671Gly)
c.1664A>G (p.Glu555Gly)
2g.1496129A>TCA345698146TPOc.2147A>T (p.Glu716Val)
c.1628A>T (p.Glu543Val)
c.1976A>T (p.Glu659Val)
c.1934A>T (p.Glu645Val)
c.571A>T
n.424+2090A>T
c.569A>T (p.Glu190Val)
n.677+2090A>T
n.2148A>T
c.2183A>T (p.Glu728Val)
c.2012A>T (p.Glu671Val)
c.1664A>T (p.Glu555Val)
2g.1496130A>CCA345698147TPOc.2148A>C (p.Glu716Asp)
c.1629A>C (p.Glu543Asp)
c.1977A>C (p.Glu659Asp)
c.1935A>C (p.Glu645Asp)
c.572A>C
n.424+2091A>C
c.570A>C (p.Glu190Asp)
n.677+2091A>C
n.2149A>C
c.2184A>C (p.Glu728Asp)
c.2013A>C (p.Glu671Asp)
c.1665A>C (p.Glu555Asp)
COSMIC
2g.1496130A>GCA424757044TPOc.2148A>G (p.Glu716=)
c.1629A>G (p.Glu543=)
c.1977A>G (p.Glu659=)
c.1935A>G (p.Glu645=)
c.572A>G
n.424+2091A>G
c.570A>G (p.Glu190=)
n.677+2091A>G
n.2149A>G
c.2184A>G (p.Glu728=)
c.2013A>G (p.Glu671=)
c.1665A>G (p.Glu555=)
2g.1496130A>TCA345698148TPOc.2148A>T (p.Glu716Asp)
c.1629A>T (p.Glu543Asp)
c.1977A>T (p.Glu659Asp)
c.1935A>T (p.Glu645Asp)
c.572A>T
n.424+2091A>T
c.570A>T (p.Glu190Asp)
n.677+2091A>T
n.2149A>T
c.2184A>T (p.Glu728Asp)
c.2013A>T (p.Glu671Asp)
c.1665A>T (p.Glu555Asp)
2g.1496131G>ACA345698151TPOc.2149G>A (p.Asp717Asn)
c.1630G>A (p.Asp544Asn)
c.1978G>A (p.Asp660Asn)
c.1936G>A (p.Asp646Asn)
c.573G>A
n.424+2092G>A
c.571G>A (p.Asp191Asn)
n.677+2092G>A
n.2150G>A
c.2185G>A (p.Asp729Asn)
c.2014G>A (p.Asp672Asn)
c.1666G>A (p.Asp556Asn)
2g.1496131G>CCA345698149TPOc.2149G>C (p.Asp717His)
c.1630G>C (p.Asp544His)
c.1978G>C (p.Asp660His)
c.1936G>C (p.Asp646His)
c.573G>C
n.424+2092G>C
c.571G>C (p.Asp191His)
n.677+2092G>C
n.2150G>C
c.2185G>C (p.Asp729His)
c.2014G>C (p.Asp672His)
c.1666G>C (p.Asp556His)
2g.1496131G>TCA345698150TPOc.2149G>T (p.Asp717Tyr)
c.1630G>T (p.Asp544Tyr)
c.1978G>T (p.Asp660Tyr)
c.1936G>T (p.Asp646Tyr)
c.573G>T
n.424+2092G>T
c.571G>T (p.Asp191Tyr)
n.677+2092G>T
n.2150G>T
c.2185G>T (p.Asp729Tyr)
c.2014G>T (p.Asp672Tyr)
c.1666G>T (p.Asp556Tyr)
2g.1496132A>CCA345698152TPOc.2150A>C (p.Asp717Ala)
c.1631A>C (p.Asp544Ala)
c.1979A>C (p.Asp660Ala)
c.1937A>C (p.Asp646Ala)
c.574A>C
n.424+2093A>C
c.572A>C (p.Asp191Ala)
n.677+2093A>C
n.2151A>C
c.2186A>C (p.Asp729Ala)
c.2015A>C (p.Asp672Ala)
c.1667A>C (p.Asp556Ala)
2g.1496132A>GCA345698153TPOc.2150A>G (p.Asp717Gly)
c.1631A>G (p.Asp544Gly)
c.1979A>G (p.Asp660Gly)
c.1937A>G (p.Asp646Gly)
c.574A>G
n.424+2093A>G
c.572A>G (p.Asp191Gly)
n.677+2093A>G
n.2151A>G
c.2186A>G (p.Asp729Gly)
c.2015A>G (p.Asp672Gly)
c.1667A>G (p.Asp556Gly)
2g.1496132A>TCA345698154TPOc.2150A>T (p.Asp717Val)
c.1631A>T (p.Asp544Val)
c.1979A>T (p.Asp660Val)
c.1937A>T (p.Asp646Val)
c.574A>T
n.424+2093A>T
c.572A>T (p.Asp191Val)
n.677+2093A>T
n.2151A>T
c.2186A>T (p.Asp729Val)
c.2015A>T (p.Asp672Val)
c.1667A>T (p.Asp556Val)
2g.1496133C>ACA345698155TPOc.2151C>A (p.Asp717Glu)
c.1632C>A (p.Asp544Glu)
c.1980C>A (p.Asp660Glu)
c.1938C>A (p.Asp646Glu)
c.575C>A
n.424+2094C>A
c.573C>A (p.Asp191Glu)
n.677+2094C>A
n.2152C>A
c.2187C>A (p.Asp729Glu)
c.2016C>A (p.Asp672Glu)
c.1668C>A (p.Asp556Glu)
2g.1496133C=CA1233577907TPOc.2151C= (p.Asp717=)
c.1632C= (p.Asp544=)
c.1980C= (p.Asp660=)
c.1938C= (p.Asp646=)
c.575C=
n.424+2094C=
c.573C= (p.Asp191=)
n.677+2094C=
n.2152C=
c.2187C= (p.Asp729=)
c.2016C= (p.Asp672=)
c.1668C= (p.Asp556=)
2g.1496133C>GCA1511963TPOc.2151C>G (p.Asp717Glu)
c.1632C>G (p.Asp544Glu)
c.1980C>G (p.Asp660Glu)
c.1938C>G (p.Asp646Glu)
c.575C>G
n.424+2094C>G
c.573C>G (p.Asp191Glu)
n.677+2094C>G
n.2152C>G
c.2187C>G (p.Asp729Glu)
c.2016C>G (p.Asp672Glu)
c.1668C>G (p.Asp556Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.1496133C>TCA424757053TPOc.2151C>T (p.Asp717=)
c.1632C>T (p.Asp544=)
c.1980C>T (p.Asp660=)
c.1938C>T (p.Asp646=)
c.575C>T
n.424+2094C>T
c.573C>T (p.Asp191=)
n.677+2094C>T
n.2152C>T
c.2187C>T (p.Asp729=)
c.2016C>T (p.Asp672=)
c.1668C>T (p.Asp556=)
2g.1496134T>ACA345698156TPOc.2152T>A (p.Phe718Ile)
c.1633T>A (p.Phe545Ile)
c.1981T>A (p.Phe661Ile)
c.1939T>A (p.Phe647Ile)
c.576T>A
n.424+2095T>A
c.574T>A (p.Phe192Ile)
n.677+2095T>A
n.2153T>A
c.2188T>A (p.Phe730Ile)
c.2017T>A (p.Phe673Ile)
c.1669T>A (p.Phe557Ile)
2g.1496134T>CCA345698157TPOc.2152T>C (p.Phe718Leu)
c.1633T>C (p.Phe545Leu)
c.1981T>C (p.Phe661Leu)
c.1939T>C (p.Phe647Leu)
c.576T>C
n.424+2095T>C
c.574T>C (p.Phe192Leu)
n.677+2095T>C
n.2153T>C
c.2188T>C (p.Phe730Leu)
c.2017T>C (p.Phe673Leu)
c.1669T>C (p.Phe557Leu)
2g.1496134T>GCA1511964TPOc.2152T>G (p.Phe718Val)
c.1633T>G (p.Phe545Val)
c.1981T>G (p.Phe661Val)
c.1939T>G (p.Phe647Val)
c.576T>G
n.424+2095T>G
c.574T>G (p.Phe192Val)
n.677+2095T>G
n.2153T>G
c.2188T>G (p.Phe730Val)
c.2017T>G (p.Phe673Val)
c.1669T>G (p.Phe557Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496134T=CA1233577908TPOc.2152T= (p.Phe718=)
c.1633T= (p.Phe545=)
c.1981T= (p.Phe661=)
c.1939T= (p.Phe647=)
c.576T=
n.424+2095T=
c.574T= (p.Phe192=)
n.677+2095T=
n.2153T=
c.2188T= (p.Phe730=)
c.2017T= (p.Phe673=)
c.1669T= (p.Phe557=)
2g.1496135_1496136dupCA1026821088TPOc.2153_2154dup (p.Glu719LeufsTer10)
c.1634_1635dup (p.Glu546LeufsTer10)
c.1982_1983dup (p.Glu662LeufsTer10)
c.1940_1941dup (p.Glu648LeufsTer10)
c.577_578dup
n.424+2096_424+2097dup
c.575_576dup (p.Glu193LeufsTer10)
n.677+2096_677+2097dup
n.2154_2155dup
c.2189_2190dup (p.Glu731LeufsTer10)
c.2018_2019dup (p.Glu674LeufsTer10)
c.1670_1671dup (p.Glu558LeufsTer10)
dbSNP gnomAD v3 gnomAD v4
2g.1496135_1496136delCA2586968659TPOc.2153_2154del (p.Phe718Ter)
c.1634_1635del (p.Phe545Ter)
c.1982_1983del (p.Phe661Ter)
c.1940_1941del (p.Phe647Ter)
c.577_578del
n.424+2096_424+2097del
c.575_576del (p.Phe192Ter)
n.677+2096_677+2097del
n.2154_2155del
c.2189_2190del (p.Phe730Ter)
c.2018_2019del (p.Phe673Ter)
c.1670_1671del (p.Phe557Ter)
2g.1496135T>ACA345698158TPOc.2153T>A (p.Phe718Tyr)
c.1634T>A (p.Phe545Tyr)
c.1982T>A (p.Phe661Tyr)
c.1940T>A (p.Phe647Tyr)
c.577T>A
n.424+2096T>A
c.575T>A (p.Phe192Tyr)
n.677+2096T>A
n.2154T>A
c.2189T>A (p.Phe730Tyr)
c.2018T>A (p.Phe673Tyr)
c.1670T>A (p.Phe557Tyr)
2g.1496135T>CCA345698159TPOc.2153T>C (p.Phe718Ser)
c.1634T>C (p.Phe545Ser)
c.1982T>C (p.Phe661Ser)
c.1940T>C (p.Phe647Ser)
c.577T>C
n.424+2096T>C
c.575T>C (p.Phe192Ser)
n.677+2096T>C
n.2154T>C
c.2189T>C (p.Phe730Ser)
c.2018T>C (p.Phe673Ser)
c.1670T>C (p.Phe557Ser)
gnomAD v4
2g.1496135T>GCA345698160TPOc.2153T>G (p.Phe718Cys)
c.1634T>G (p.Phe545Cys)
c.1982T>G (p.Phe661Cys)
c.1940T>G (p.Phe647Cys)
c.577T>G
n.424+2096T>G
c.575T>G (p.Phe192Cys)
n.677+2096T>G
n.2154T>G
c.2189T>G (p.Phe730Cys)
c.2018T>G (p.Phe673Cys)
c.1670T>G (p.Phe557Cys)
2g.1496136T>ACA345698161TPOc.2154T>A (p.Phe718Leu)
c.1635T>A (p.Phe545Leu)
c.1983T>A (p.Phe661Leu)
c.1941T>A (p.Phe647Leu)
c.578T>A
n.424+2097T>A
c.576T>A (p.Phe192Leu)
n.677+2097T>A
n.2155T>A
c.2190T>A (p.Phe730Leu)
c.2019T>A (p.Phe673Leu)
c.1671T>A (p.Phe557Leu)
2g.1496136T>CCA424757064TPOc.2154T>C (p.Phe718=)
c.1635T>C (p.Phe545=)
c.1983T>C (p.Phe661=)
c.1941T>C (p.Phe647=)
c.578T>C
n.424+2097T>C
c.576T>C (p.Phe192=)
n.677+2097T>C
n.2155T>C
c.2190T>C (p.Phe730=)
c.2019T>C (p.Phe673=)
c.1671T>C (p.Phe557=)
2g.1496136T>GCA345698162TPOc.2154T>G (p.Phe718Leu)
c.1635T>G (p.Phe545Leu)
c.1983T>G (p.Phe661Leu)
c.1941T>G (p.Phe647Leu)
c.578T>G
n.424+2097T>G
c.576T>G (p.Phe192Leu)
n.677+2097T>G
n.2155T>G
c.2190T>G (p.Phe730Leu)
c.2019T>G (p.Phe673Leu)
c.1671T>G (p.Phe557Leu)
2g.1496137G>ACA1511965TPOc.2155G>A (p.Glu719Lys)
c.1636G>A (p.Glu546Lys)
c.1984G>A (p.Glu662Lys)
c.1942G>A (p.Glu648Lys)
c.579G>A
n.424+2098G>A
c.577G>A (p.Glu193Lys)
n.677+2098G>A
n.2156G>A
c.2191G>A (p.Glu731Lys)
c.2020G>A (p.Glu674Lys)
c.1672G>A (p.Glu558Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496137G>CCA1511966TPOc.2155G>C (p.Glu719Gln)
c.1636G>C (p.Glu546Gln)
c.1984G>C (p.Glu662Gln)
c.1942G>C (p.Glu648Gln)
c.579G>C
n.424+2098G>C
c.577G>C (p.Glu193Gln)
n.677+2098G>C
n.2156G>C
c.2191G>C (p.Glu731Gln)
c.2020G>C (p.Glu674Gln)
c.1672G>C (p.Glu558Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496137G=CA1233577909TPOc.2155G= (p.Glu719=)
c.1636G= (p.Glu546=)
c.1984G= (p.Glu662=)
c.1942G= (p.Glu648=)
c.579G=
n.424+2098G=
c.577G= (p.Glu193=)
n.677+2098G=
n.2156G=
c.2191G= (p.Glu731=)
c.2020G= (p.Glu674=)
c.1672G= (p.Glu558=)
2g.1496137G>TCA345698163TPOc.2155G>T (p.Glu719Ter)
c.1636G>T (p.Glu546Ter)
c.1984G>T (p.Glu662Ter)
c.1942G>T (p.Glu648Ter)
c.579G>T
n.424+2098G>T
c.577G>T (p.Glu193Ter)
n.677+2098G>T
n.2156G>T
c.2191G>T (p.Glu731Ter)
c.2020G>T (p.Glu674Ter)
c.1672G>T (p.Glu558Ter)
2g.1496138A=CA1233577910TPOc.2156A= (p.Glu719=)
c.1637A= (p.Glu546=)
c.1985A= (p.Glu662=)
c.1943A= (p.Glu648=)
c.580A=
n.424+2099A=
c.578A= (p.Glu193=)
n.677+2099A=
n.2157A=
c.2192A= (p.Glu731=)
c.2021A= (p.Glu674=)
c.1673A= (p.Glu558=)
2g.1496138A>CCA345698164TPOc.2156A>C (p.Glu719Ala)
c.1637A>C (p.Glu546Ala)
c.1985A>C (p.Glu662Ala)
c.1943A>C (p.Glu648Ala)
c.580A>C
n.424+2099A>C
c.578A>C (p.Glu193Ala)
n.677+2099A>C
n.2157A>C
c.2192A>C (p.Glu731Ala)
c.2021A>C (p.Glu674Ala)
c.1673A>C (p.Glu558Ala)
dbSNP gnomAD v3 gnomAD v4
2g.1496138A>GCA345698165TPOc.2156A>G (p.Glu719Gly)
c.1637A>G (p.Glu546Gly)
c.1985A>G (p.Glu662Gly)
c.1943A>G (p.Glu648Gly)
c.580A>G
n.424+2099A>G
c.578A>G (p.Glu193Gly)
n.677+2099A>G
n.2157A>G
c.2192A>G (p.Glu731Gly)
c.2021A>G (p.Glu674Gly)
c.1673A>G (p.Glu558Gly)
2g.1496138A>TCA345698166TPOc.2156A>T (p.Glu719Val)
c.1637A>T (p.Glu546Val)
c.1985A>T (p.Glu662Val)
c.1943A>T (p.Glu648Val)
c.580A>T
n.424+2099A>T
c.578A>T (p.Glu193Val)
n.677+2099A>T
n.2157A>T
c.2192A>T (p.Glu731Val)
c.2021A>T (p.Glu674Val)
c.1673A>T (p.Glu558Val)
2g.1496139G>ACA424757071TPOc.2157G>A (p.Glu719=)
c.1638G>A (p.Glu546=)
c.1986G>A (p.Glu662=)
c.1944G>A (p.Glu648=)
c.581G>A
n.424+2100G>A
c.579G>A (p.Glu193=)
n.677+2100G>A
n.2158G>A
c.2193G>A (p.Glu731=)
c.2022G>A (p.Glu674=)
c.1674G>A (p.Glu558=)
ClinVar dbSNP
2g.1496139G>CCA345698167TPOc.2157G>C (p.Glu719Asp)
c.1638G>C (p.Glu546Asp)
c.1986G>C (p.Glu662Asp)
c.1944G>C (p.Glu648Asp)
c.581G>C
n.424+2100G>C
c.579G>C (p.Glu193Asp)
n.677+2100G>C
n.2158G>C
c.2193G>C (p.Glu731Asp)
c.2022G>C (p.Glu674Asp)
c.1674G>C (p.Glu558Asp)
2g.1496139G=CA1233577911TPOc.2157G= (p.Glu719=)
c.1638G= (p.Glu546=)
c.1986G= (p.Glu662=)
c.1944G= (p.Glu648=)
c.581G=
n.424+2100G=
c.579G= (p.Glu193=)
n.677+2100G=
n.2158G=
c.2193G= (p.Glu731=)
c.2022G= (p.Glu674=)
c.1674G= (p.Glu558=)
2g.1496139G>TCA345698168TPOc.2157G>T (p.Glu719Asp)
c.1638G>T (p.Glu546Asp)
c.1986G>T (p.Glu662Asp)
c.1944G>T (p.Glu648Asp)
c.581G>T
n.424+2100G>T
c.579G>T (p.Glu193Asp)
n.677+2100G>T
n.2158G>T
c.2193G>T (p.Glu731Asp)
c.2022G>T (p.Glu674Asp)
c.1674G>T (p.Glu558Asp)
gnomAD v4
2g.1496140T>ACA345698169TPOc.2158T>A (p.Ser720Thr)
c.1639T>A (p.Ser547Thr)
c.1987T>A (p.Ser663Thr)
c.1945T>A (p.Ser649Thr)
c.582T>A
n.424+2101T>A
c.580T>A (p.Ser194Thr)
n.677+2101T>A
n.2159T>A
c.2194T>A (p.Ser732Thr)
c.2023T>A (p.Ser675Thr)
c.1675T>A (p.Ser559Thr)
2g.1496140T>CCA345698170TPOc.2158T>C (p.Ser720Pro)
c.1639T>C (p.Ser547Pro)
c.1987T>C (p.Ser663Pro)
c.1945T>C (p.Ser649Pro)
c.582T>C
n.424+2101T>C
c.580T>C (p.Ser194Pro)
n.677+2101T>C
n.2159T>C
c.2194T>C (p.Ser732Pro)
c.2023T>C (p.Ser675Pro)
c.1675T>C (p.Ser559Pro)
2g.1496140T>GCA345698171TPOc.2158T>G (p.Ser720Ala)
c.1639T>G (p.Ser547Ala)
c.1987T>G (p.Ser663Ala)
c.1945T>G (p.Ser649Ala)
c.582T>G
n.424+2101T>G
c.580T>G (p.Ser194Ala)
n.677+2101T>G
n.2159T>G
c.2194T>G (p.Ser732Ala)
c.2023T>G (p.Ser675Ala)
c.1675T>G (p.Ser559Ala)
2g.1496141C>ACA345698172TPOc.2159C>A (p.Ser720Tyr)
c.1640C>A (p.Ser547Tyr)
c.1988C>A (p.Ser663Tyr)
c.1946C>A (p.Ser649Tyr)
c.583C>A
n.424+2102C>A
c.581C>A (p.Ser194Tyr)
n.677+2102C>A
n.2160C>A
c.2195C>A (p.Ser732Tyr)
c.2024C>A (p.Ser675Tyr)
c.1676C>A (p.Ser559Tyr)
2g.1496141C>GCA345698173TPOc.2159C>G (p.Ser720Cys)
c.1640C>G (p.Ser547Cys)
c.1988C>G (p.Ser663Cys)
c.1946C>G (p.Ser649Cys)
c.583C>G
n.424+2102C>G
c.581C>G (p.Ser194Cys)
n.677+2102C>G
n.2160C>G
c.2195C>G (p.Ser732Cys)
c.2024C>G (p.Ser675Cys)
c.1676C>G (p.Ser559Cys)
2g.1496141C>TCA345698174TPOc.2159C>T (p.Ser720Phe)
c.1640C>T (p.Ser547Phe)
c.1988C>T (p.Ser663Phe)
c.1946C>T (p.Ser649Phe)
c.583C>T
n.424+2102C>T
c.581C>T (p.Ser194Phe)
n.677+2102C>T
n.2160C>T
c.2195C>T (p.Ser732Phe)
c.2024C>T (p.Ser675Phe)
c.1676C>T (p.Ser559Phe)
2g.1496142T>ACA424757077TPOc.2160T>A (p.Ser720=)
c.1641T>A (p.Ser547=)
c.1989T>A (p.Ser663=)
c.1947T>A (p.Ser649=)
c.584T>A
n.424+2103T>A
c.582T>A (p.Ser194=)
n.677+2103T>A
n.2161T>A
c.2196T>A (p.Ser732=)
c.2025T>A (p.Ser675=)
c.1677T>A (p.Ser559=)
2g.1496142T>CCA424757080TPOc.2160T>C (p.Ser720=)
c.1641T>C (p.Ser547=)
c.1989T>C (p.Ser663=)
c.1947T>C (p.Ser649=)
c.584T>C
n.424+2103T>C
c.582T>C (p.Ser194=)
n.677+2103T>C
n.2161T>C
c.2196T>C (p.Ser732=)
c.2025T>C (p.Ser675=)
c.1677T>C (p.Ser559=)
2g.1496142T>GCA424757078TPOc.2160T>G (p.Ser720=)
c.1641T>G (p.Ser547=)
c.1989T>G (p.Ser663=)
c.1947T>G (p.Ser649=)
c.584T>G
n.424+2103T>G
c.582T>G (p.Ser194=)
n.677+2103T>G
n.2161T>G
c.2196T>G (p.Ser732=)
c.2025T>G (p.Ser675=)
c.1677T>G (p.Ser559=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1496142T=CA1233577912TPOc.2160T= (p.Ser720=)
c.1641T= (p.Ser547=)
c.1989T= (p.Ser663=)
c.1947T= (p.Ser649=)
c.584T=
n.424+2103T=
c.582T= (p.Ser194=)
n.677+2103T=
n.2161T=
c.2196T= (p.Ser732=)
c.2025T= (p.Ser675=)
c.1677T= (p.Ser559=)
2g.1496143T>ACA345698175TPOc.2161T>A (p.Cys721Ser)
c.1642T>A (p.Cys548Ser)
c.1990T>A (p.Cys664Ser)
c.1948T>A (p.Cys650Ser)
c.585T>A
n.424+2104T>A
c.583T>A (p.Cys195Ser)
n.677+2104T>A
n.2162T>A
c.2197T>A (p.Cys733Ser)
c.2026T>A (p.Cys676Ser)
c.1678T>A (p.Cys560Ser)
2g.1496143T>CCA345698176TPOc.2161T>C (p.Cys721Arg)
c.1642T>C (p.Cys548Arg)
c.1990T>C (p.Cys664Arg)
c.1948T>C (p.Cys650Arg)
c.585T>C
n.424+2104T>C
c.583T>C (p.Cys195Arg)
n.677+2104T>C
n.2162T>C
c.2197T>C (p.Cys733Arg)
c.2026T>C (p.Cys676Arg)
c.1678T>C (p.Cys560Arg)
gnomAD v4
2g.1496143T>GCA345698177TPOc.2161T>G (p.Cys721Gly)
c.1642T>G (p.Cys548Gly)
c.1990T>G (p.Cys664Gly)
c.1948T>G (p.Cys650Gly)
c.585T>G
n.424+2104T>G
c.583T>G (p.Cys195Gly)
n.677+2104T>G
n.2162T>G
c.2197T>G (p.Cys733Gly)
c.2026T>G (p.Cys676Gly)
c.1678T>G (p.Cys560Gly)
2g.1496144G>ACA1511967TPOc.2162G>A (p.Cys721Tyr)
c.1643G>A (p.Cys548Tyr)
c.1991G>A (p.Cys664Tyr)
c.1949G>A (p.Cys650Tyr)
c.586G>A
n.424+2105G>A
c.584G>A (p.Cys195Tyr)
n.677+2105G>A
n.2163G>A
c.2198G>A (p.Cys733Tyr)
c.2027G>A (p.Cys676Tyr)
c.1679G>A (p.Cys560Tyr)
dbSNP ExAC
2g.1496144G>CCA345698179TPOc.2162G>C (p.Cys721Ser)
c.1643G>C (p.Cys548Ser)
c.1991G>C (p.Cys664Ser)
c.1949G>C (p.Cys650Ser)
c.586G>C
n.424+2105G>C
c.584G>C (p.Cys195Ser)
n.677+2105G>C
n.2163G>C
c.2198G>C (p.Cys733Ser)
c.2027G>C (p.Cys676Ser)
c.1679G>C (p.Cys560Ser)
2g.1496144G=CA1233577913TPOc.2162G= (p.Cys721=)
c.1643G= (p.Cys548=)
c.1991G= (p.Cys664=)
c.1949G= (p.Cys650=)
c.586G=
n.424+2105G=
c.584G= (p.Cys195=)
n.677+2105G=
n.2163G=
c.2198G= (p.Cys733=)
c.2027G= (p.Cys676=)
c.1679G= (p.Cys560=)
2g.1496144G>TCA345698178TPOc.2162G>T (p.Cys721Phe)
c.1643G>T (p.Cys548Phe)
c.1991G>T (p.Cys664Phe)
c.1949G>T (p.Cys650Phe)
c.586G>T
n.424+2105G>T
c.584G>T (p.Cys195Phe)
n.677+2105G>T
n.2163G>T
c.2198G>T (p.Cys733Phe)
c.2027G>T (p.Cys676Phe)
c.1679G>T (p.Cys560Phe)
2g.1496144_1496145delinsGTCA1233577914TPOc.2162_2163delinsGT (p.Cys721=)
c.1643_1644delinsGT (p.Cys548=)
c.1991_1992delinsGT (p.Cys664=)
c.1949_1950delinsGT (p.Cys650=)
c.586_587delinsGT
n.424+2105_424+2106delinsGT
c.584_585delinsGT (p.Cys195=)
n.677+2105_677+2106delinsGT
n.2163_2164delinsGT
c.2198_2199delinsGT (p.Cys733=)
c.2027_2028delinsGT (p.Cys676=)
c.1679_1680delinsGT (p.Cys560=)
2g.1496145delCA1233577915TPOc.2163del (p.Cys721TrpfsTer7)
c.1644del (p.Cys548TrpfsTer7)
c.1992del (p.Cys664TrpfsTer7)
c.1950del (p.Cys650TrpfsTer7)
c.587del
n.424+2106del
c.585del (p.Cys195TrpfsTer7)
n.677+2106del
n.2164del
c.2199del (p.Cys733TrpfsTer7)
c.2028del (p.Cys676TrpfsTer7)
c.1680del (p.Cys560TrpfsTer7)
dbSNP
2g.1496145T>ACA345698180TPOc.2163T>A (p.Cys721Ter)
c.1644T>A (p.Cys548Ter)
c.1992T>A (p.Cys664Ter)
c.1950T>A (p.Cys650Ter)
c.587T>A
n.424+2106T>A
c.585T>A (p.Cys195Ter)
n.677+2106T>A
n.2164T>A
c.2199T>A (p.Cys733Ter)
c.2028T>A (p.Cys676Ter)
c.1680T>A (p.Cys560Ter)
2g.1496145T>CCA424757090TPOc.2163T>C (p.Cys721=)
c.1644T>C (p.Cys548=)
c.1992T>C (p.Cys664=)
c.1950T>C (p.Cys650=)
c.587T>C
n.424+2106T>C
c.585T>C (p.Cys195=)
n.677+2106T>C
n.2164T>C
c.2199T>C (p.Cys733=)
c.2028T>C (p.Cys676=)
c.1680T>C (p.Cys560=)
2g.1496145T>GCA345698181TPOc.2163T>G (p.Cys721Trp)
c.1644T>G (p.Cys548Trp)
c.1992T>G (p.Cys664Trp)
c.1950T>G (p.Cys650Trp)
c.587T>G
n.424+2106T>G
c.585T>G (p.Cys195Trp)
n.677+2106T>G
n.2164T>G
c.2199T>G (p.Cys733Trp)
c.2028T>G (p.Cys676Trp)
c.1680T>G (p.Cys560Trp)
2g.1496146G>ACA345698182TPOc.2164G>A (p.Asp722Asn)
c.1645G>A (p.Asp549Asn)
c.1993G>A (p.Asp665Asn)
c.1951G>A (p.Asp651Asn)
c.588G>A
n.424+2107G>A
c.586G>A (p.Asp196Asn)
n.677+2107G>A
n.2165G>A
c.2200G>A (p.Asp734Asn)
c.2029G>A (p.Asp677Asn)
c.1681G>A (p.Asp561Asn)
dbSNP
2g.1496146G>CCA345698183TPOc.2164G>C (p.Asp722His)
c.1645G>C (p.Asp549His)
c.1993G>C (p.Asp665His)
c.1951G>C (p.Asp651His)
c.588G>C
n.424+2107G>C
c.586G>C (p.Asp196His)
n.677+2107G>C
n.2165G>C
c.2200G>C (p.Asp734His)
c.2029G>C (p.Asp677His)
c.1681G>C (p.Asp561His)
2g.1496146G=CA1233577916TPOc.2164G= (p.Asp722=)
c.1645G= (p.Asp549=)
c.1993G= (p.Asp665=)
c.1951G= (p.Asp651=)
c.588G=
n.424+2107G=
c.586G= (p.Asp196=)
n.677+2107G=
n.2165G=
c.2200G= (p.Asp734=)
c.2029G= (p.Asp677=)
c.1681G= (p.Asp561=)
2g.1496146G>TCA345698184TPOc.2164G>T (p.Asp722Tyr)
c.1645G>T (p.Asp549Tyr)
c.1993G>T (p.Asp665Tyr)
c.1951G>T (p.Asp651Tyr)
c.588G>T
n.424+2107G>T
c.586G>T (p.Asp196Tyr)
n.677+2107G>T
n.2165G>T
c.2200G>T (p.Asp734Tyr)
c.2029G>T (p.Asp677Tyr)
c.1681G>T (p.Asp561Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1496147A=CA1233577917TPOc.2165A= (p.Asp722=)
c.1646A= (p.Asp549=)
c.1994A= (p.Asp665=)
c.1952A= (p.Asp651=)
c.589A=
n.424+2108A=
c.587A= (p.Asp196=)
n.677+2108A=
n.2166A=
c.2201A= (p.Asp734=)
c.2030A= (p.Asp677=)
c.1682A= (p.Asp561=)
2g.1496147A>CCA345698185TPOc.2165A>C (p.Asp722Ala)
c.1646A>C (p.Asp549Ala)
c.1994A>C (p.Asp665Ala)
c.1952A>C (p.Asp651Ala)
c.589A>C
n.424+2108A>C
c.587A>C (p.Asp196Ala)
n.677+2108A>C
n.2166A>C
c.2201A>C (p.Asp734Ala)
c.2030A>C (p.Asp677Ala)
c.1682A>C (p.Asp561Ala)
2g.1496147A>GCA345698186TPOc.2165A>G (p.Asp722Gly)
c.1646A>G (p.Asp549Gly)
c.1994A>G (p.Asp665Gly)
c.1952A>G (p.Asp651Gly)
c.589A>G
n.424+2108A>G
c.587A>G (p.Asp196Gly)
n.677+2108A>G
n.2166A>G
c.2201A>G (p.Asp734Gly)
c.2030A>G (p.Asp677Gly)
c.1682A>G (p.Asp561Gly)
dbSNP
2g.1496147A>TCA345698187TPOc.2165A>T (p.Asp722Val)
c.1646A>T (p.Asp549Val)
c.1994A>T (p.Asp665Val)
c.1952A>T (p.Asp651Val)
c.589A>T
n.424+2108A>T
c.587A>T (p.Asp196Val)
n.677+2108A>T
n.2166A>T
c.2201A>T (p.Asp734Val)
c.2030A>T (p.Asp677Val)
c.1682A>T (p.Asp561Val)
2g.1496148C>ACA345698188TPOc.2166C>A (p.Asp722Glu)
c.1647C>A (p.Asp549Glu)
c.1995C>A (p.Asp665Glu)
c.1953C>A (p.Asp651Glu)
c.590C>A
n.424+2109C>A
c.588C>A (p.Asp196Glu)
n.677+2109C>A
n.2167C>A
c.2202C>A (p.Asp734Glu)
c.2031C>A (p.Asp677Glu)
c.1683C>A (p.Asp561Glu)
gnomAD v4
2g.1496148C=CA1233577918TPOc.2166C= (p.Asp722=)
c.1647C= (p.Asp549=)
c.1995C= (p.Asp665=)
c.1953C= (p.Asp651=)
c.590C=
n.424+2109C=
c.588C= (p.Asp196=)
n.677+2109C=
n.2167C=
c.2202C= (p.Asp734=)
c.2031C= (p.Asp677=)
c.1683C= (p.Asp561=)
2g.1496148C>GCA345698189TPOc.2166C>G (p.Asp722Glu)
c.1647C>G (p.Asp549Glu)
c.1995C>G (p.Asp665Glu)
c.1953C>G (p.Asp651Glu)
c.590C>G
n.424+2109C>G
c.588C>G (p.Asp196Glu)
n.677+2109C>G
n.2167C>G
c.2202C>G (p.Asp734Glu)
c.2031C>G (p.Asp677Glu)
c.1683C>G (p.Asp561Glu)
2g.1496148C>TCA424757100TPOc.2166C>T (p.Asp722=)
c.1647C>T (p.Asp549=)
c.1995C>T (p.Asp665=)
c.1953C>T (p.Asp651=)
c.590C>T
n.424+2109C>T
c.588C>T (p.Asp196=)
n.677+2109C>T
n.2167C>T
c.2202C>T (p.Asp734=)
c.2031C>T (p.Asp677=)
c.1683C>T (p.Asp561=)
dbSNP gnomAD v2
2g.1496149A>CCA345698190TPOc.2167A>C (p.Ser723Arg)
c.1648A>C (p.Ser550Arg)
c.1996A>C (p.Ser666Arg)
c.1954A>C (p.Ser652Arg)
c.591A>C
n.424+2110A>C
c.589A>C (p.Ser197Arg)
n.677+2110A>C
n.2168A>C
c.2203A>C (p.Ser735Arg)
c.2032A>C (p.Ser678Arg)
c.1684A>C (p.Ser562Arg)
2g.1496149A>GCA345698191TPOc.2167A>G (p.Ser723Gly)
c.1648A>G (p.Ser550Gly)
c.1996A>G (p.Ser666Gly)
c.1954A>G (p.Ser652Gly)
c.591A>G
n.424+2110A>G
c.589A>G (p.Ser197Gly)
n.677+2110A>G
n.2168A>G
c.2203A>G (p.Ser735Gly)
c.2032A>G (p.Ser678Gly)
c.1684A>G (p.Ser562Gly)
2g.1496149A>TCA345698192TPOc.2167A>T (p.Ser723Cys)
c.1648A>T (p.Ser550Cys)
c.1996A>T (p.Ser666Cys)
c.1954A>T (p.Ser652Cys)
c.591A>T
n.424+2110A>T
c.589A>T (p.Ser197Cys)
n.677+2110A>T
n.2168A>T
c.2203A>T (p.Ser735Cys)
c.2032A>T (p.Ser678Cys)
c.1684A>T (p.Ser562Cys)
2g.1496150G>ACA345698195TPOc.2168G>A (p.Ser723Asn)
c.1649G>A (p.Ser550Asn)
c.1997G>A (p.Ser666Asn)
c.1955G>A (p.Ser652Asn)
c.592G>A
n.424+2111G>A
c.590G>A (p.Ser197Asn)
n.677+2111G>A
n.2169G>A
c.2204G>A (p.Ser735Asn)
c.2033G>A (p.Ser678Asn)
c.1685G>A (p.Ser562Asn)
gnomAD v4
2g.1496150G>CCA345698193TPOc.2168G>C (p.Ser723Thr)
c.1649G>C (p.Ser550Thr)
c.1997G>C (p.Ser666Thr)
c.1955G>C (p.Ser652Thr)
c.592G>C
n.424+2111G>C
c.590G>C (p.Ser197Thr)
n.677+2111G>C
n.2169G>C
c.2204G>C (p.Ser735Thr)
c.2033G>C (p.Ser678Thr)
c.1685G>C (p.Ser562Thr)
gnomAD v4
2g.1496150G>TCA345698194TPOc.2168G>T (p.Ser723Ile)
c.1649G>T (p.Ser550Ile)
c.1997G>T (p.Ser666Ile)
c.1955G>T (p.Ser652Ile)
c.592G>T
n.424+2111G>T
c.590G>T (p.Ser197Ile)
n.677+2111G>T
n.2169G>T
c.2204G>T (p.Ser735Ile)
c.2033G>T (p.Ser678Ile)
c.1685G>T (p.Ser562Ile)
2g.1496151C>ACA345698196TPOc.2169C>A (p.Ser723Arg)
c.1650C>A (p.Ser550Arg)
c.1998C>A (p.Ser666Arg)
c.1956C>A (p.Ser652Arg)
c.593C>A
n.424+2112C>A
c.591C>A (p.Ser197Arg)
n.677+2112C>A
n.2170C>A
c.2205C>A (p.Ser735Arg)
c.2034C>A (p.Ser678Arg)
c.1686C>A (p.Ser562Arg)
2g.1496151C>GCA345698197TPOc.2169C>G (p.Ser723Arg)
c.1650C>G (p.Ser550Arg)
c.1998C>G (p.Ser666Arg)
c.1956C>G (p.Ser652Arg)
c.593C>G
n.424+2112C>G
c.591C>G (p.Ser197Arg)
n.677+2112C>G
n.2170C>G
c.2205C>G (p.Ser735Arg)
c.2034C>G (p.Ser678Arg)
c.1686C>G (p.Ser562Arg)
2g.1496151C>TCA424757110TPOc.2169C>T (p.Ser723=)
c.1650C>T (p.Ser550=)
c.1998C>T (p.Ser666=)
c.1956C>T (p.Ser652=)
c.593C>T
n.424+2112C>T
c.591C>T (p.Ser197=)
n.677+2112C>T
n.2170C>T
c.2205C>T (p.Ser735=)
c.2034C>T (p.Ser678=)
c.1686C>T (p.Ser562=)
2g.1496152A=CA1233577919TPOc.2170A= (p.Ile724=)
c.1651A= (p.Ile551=)
c.1999A= (p.Ile667=)
c.1957A= (p.Ile653=)
c.594A=
n.424+2113A=
c.592A= (p.Ile198=)
n.677+2113A=
n.2171A=
c.2206A= (p.Ile736=)
c.2035A= (p.Ile679=)
c.1687A= (p.Ile563=)
2g.1496152A>CCA345698198TPOc.2170A>C (p.Ile724Leu)
c.1651A>C (p.Ile551Leu)
c.1999A>C (p.Ile667Leu)
c.1957A>C (p.Ile653Leu)
c.594A>C
n.424+2113A>C
c.592A>C (p.Ile198Leu)
n.677+2113A>C
n.2171A>C
c.2206A>C (p.Ile736Leu)
c.2035A>C (p.Ile679Leu)
c.1687A>C (p.Ile563Leu)
2g.1496152A>GCA1511968TPOc.2170A>G (p.Ile724Val)
c.1651A>G (p.Ile551Val)
c.1999A>G (p.Ile667Val)
c.1957A>G (p.Ile653Val)
c.594A>G
n.424+2113A>G
c.592A>G (p.Ile198Val)
n.677+2113A>G
n.2171A>G
c.2206A>G (p.Ile736Val)
c.2035A>G (p.Ile679Val)
c.1687A>G (p.Ile563Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.1496152A>TCA345698199TPOc.2170A>T (p.Ile724Phe)
c.1651A>T (p.Ile551Phe)
c.1999A>T (p.Ile667Phe)
c.1957A>T (p.Ile653Phe)
c.594A>T
n.424+2113A>T
c.592A>T (p.Ile198Phe)
n.677+2113A>T
n.2171A>T
c.2206A>T (p.Ile736Phe)
c.2035A>T (p.Ile679Phe)
c.1687A>T (p.Ile563Phe)
2g.1496153T>ACA345698200TPOc.2171T>A (p.Ile724Asn)
c.1652T>A (p.Ile551Asn)
c.2000T>A (p.Ile667Asn)
c.1958T>A (p.Ile653Asn)
c.595T>A
n.424+2114T>A
c.593T>A (p.Ile198Asn)
n.677+2114T>A
n.2172T>A
c.2207T>A (p.Ile736Asn)
c.2036T>A (p.Ile679Asn)
c.1688T>A (p.Ile563Asn)
2g.1496153T>CCA345698201TPOc.2171T>C (p.Ile724Thr)
c.1652T>C (p.Ile551Thr)
c.2000T>C (p.Ile667Thr)
c.1958T>C (p.Ile653Thr)
c.595T>C
n.424+2114T>C
c.593T>C (p.Ile198Thr)
n.677+2114T>C
n.2172T>C
c.2207T>C (p.Ile736Thr)
c.2036T>C (p.Ile679Thr)
c.1688T>C (p.Ile563Thr)
2g.1496153T>GCA345698202TPOc.2171T>G (p.Ile724Ser)
c.1652T>G (p.Ile551Ser)
c.2000T>G (p.Ile667Ser)
c.1958T>G (p.Ile653Ser)
c.595T>G
n.424+2114T>G
c.593T>G (p.Ile198Ser)
n.677+2114T>G
n.2172T>G
c.2207T>G (p.Ile736Ser)
c.2036T>G (p.Ile679Ser)
c.1688T>G (p.Ile563Ser)
2g.1496154C>ACA424757116TPOc.2172C>A (p.Ile724=)
c.1653C>A (p.Ile551=)
c.2001C>A (p.Ile667=)
c.1959C>A (p.Ile653=)
c.596C>A
n.424+2115C>A
c.594C>A (p.Ile198=)
n.677+2115C>A
n.2173C>A
c.2208C>A (p.Ile736=)
c.2037C>A (p.Ile679=)
c.1689C>A (p.Ile563=)
dbSNP gnomAD v2
2g.1496154C=CA1233577920TPOc.2172C= (p.Ile724=)
c.1653C= (p.Ile551=)
c.2001C= (p.Ile667=)
c.1959C= (p.Ile653=)
c.596C=
n.424+2115C=
c.594C= (p.Ile198=)
n.677+2115C=
n.2173C=
c.2208C= (p.Ile736=)
c.2037C= (p.Ile679=)
c.1689C= (p.Ile563=)
2g.1496154C>GCA345698203TPOc.2172C>G (p.Ile724Met)
c.1653C>G (p.Ile551Met)
c.2001C>G (p.Ile667Met)
c.1959C>G (p.Ile653Met)
c.596C>G
n.424+2115C>G
c.594C>G (p.Ile198Met)
n.677+2115C>G
n.2173C>G
c.2208C>G (p.Ile736Met)
c.2037C>G (p.Ile679Met)
c.1689C>G (p.Ile563Met)
2g.1496154C>TCA424757117TPOc.2172C>T (p.Ile724=)
c.1653C>T (p.Ile551=)
c.2001C>T (p.Ile667=)
c.1959C>T (p.Ile653=)
c.596C>T
n.424+2115C>T
c.594C>T (p.Ile198=)
n.677+2115C>T
n.2173C>T
c.2208C>T (p.Ile736=)
c.2037C>T (p.Ile679=)
c.1689C>T (p.Ile563=)
gnomAD v4
2g.1496155A=CA1233577921TPOc.2173A= (p.Thr725=)
c.1654A= (p.Thr552=)
c.2002A= (p.Thr668=)
c.1960A= (p.Thr654=)
c.597A=
n.424+2116A=
c.595A= (p.Thr199=)
n.677+2116A=
n.2174A=
c.2209A= (p.Thr737=)
c.2038A= (p.Thr680=)
c.1690A= (p.Thr564=)
2g.1496155A>CCA1511969TPOc.2173A>C (p.Thr725Pro)
c.1654A>C (p.Thr552Pro)
c.2002A>C (p.Thr668Pro)
c.1960A>C (p.Thr654Pro)
c.597A>C
n.424+2116A>C
c.595A>C (p.Thr199Pro)
n.677+2116A>C
n.2174A>C
c.2209A>C (p.Thr737Pro)
c.2038A>C (p.Thr680Pro)
c.1690A>C (p.Thr564Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496155A>GCA41427031TPOc.2173A>G (p.Thr725Ala)
c.1654A>G (p.Thr552Ala)
c.2002A>G (p.Thr668Ala)
c.1960A>G (p.Thr654Ala)
c.597A>G
n.424+2116A>G
c.595A>G (p.Thr199Ala)
n.677+2116A>G
n.2174A>G
c.2209A>G (p.Thr737Ala)
c.2038A>G (p.Thr680Ala)
c.1690A>G (p.Thr564Ala)
dbSNP gnomAD v4
2g.1496155A>TCA345698204TPOc.2173A>T (p.Thr725Ser)
c.1654A>T (p.Thr552Ser)
c.2002A>T (p.Thr668Ser)
c.1960A>T (p.Thr654Ser)
c.597A>T
n.424+2116A>T
c.595A>T (p.Thr199Ser)
n.677+2116A>T
n.2174A>T
c.2209A>T (p.Thr737Ser)
c.2038A>T (p.Thr680Ser)
c.1690A>T (p.Thr564Ser)
dbSNP gnomAD v4
2g.1496156C>ACA345698205TPOc.2174C>A (p.Thr725Asn)
c.1655C>A (p.Thr552Asn)
c.2003C>A (p.Thr668Asn)
c.1961C>A (p.Thr654Asn)
c.598C>A
n.424+2117C>A
c.596C>A (p.Thr199Asn)
n.677+2117C>A
n.2175C>A
c.2210C>A (p.Thr737Asn)
c.2039C>A (p.Thr680Asn)
c.1691C>A (p.Thr564Asn)
gnomAD v4
2g.1496156C>GCA345698207TPOc.2174C>G (p.Thr725Ser)
c.1655C>G (p.Thr552Ser)
c.2003C>G (p.Thr668Ser)
c.1961C>G (p.Thr654Ser)
c.598C>G
n.424+2117C>G
c.596C>G (p.Thr199Ser)
n.677+2117C>G
n.2175C>G
c.2210C>G (p.Thr737Ser)
c.2039C>G (p.Thr680Ser)
c.1691C>G (p.Thr564Ser)
2g.1496156C>TCA345698206TPOc.2174C>T (p.Thr725Ile)
c.1655C>T (p.Thr552Ile)
c.2003C>T (p.Thr668Ile)
c.1961C>T (p.Thr654Ile)
c.598C>T
n.424+2117C>T
c.596C>T (p.Thr199Ile)
n.677+2117C>T
n.2175C>T
c.2210C>T (p.Thr737Ile)
c.2039C>T (p.Thr680Ile)
c.1691C>T (p.Thr564Ile)
gnomAD v4
2g.1496157T>ACA424757130TPOc.2175T>A (p.Thr725=)
c.1656T>A (p.Thr552=)
c.2004T>A (p.Thr668=)
c.1962T>A (p.Thr654=)
c.599T>A
n.424+2118T>A
c.597T>A (p.Thr199=)
n.677+2118T>A
n.2176T>A
c.2211T>A (p.Thr737=)
c.2040T>A (p.Thr680=)
c.1692T>A (p.Thr564=)
2g.1496157T>CCA424757127TPOc.2175T>C (p.Thr725=)
c.1656T>C (p.Thr552=)
c.2004T>C (p.Thr668=)
c.1962T>C (p.Thr654=)
c.599T>C
n.424+2118T>C
c.597T>C (p.Thr199=)
n.677+2118T>C
n.2176T>C
c.2211T>C (p.Thr737=)
c.2040T>C (p.Thr680=)
c.1692T>C (p.Thr564=)
2g.1496157T>GCA424757129TPOc.2175T>G (p.Thr725=)
c.1656T>G (p.Thr552=)
c.2004T>G (p.Thr668=)
c.1962T>G (p.Thr654=)
c.599T>G
n.424+2118T>G
c.597T>G (p.Thr199=)
n.677+2118T>G
n.2176T>G
c.2211T>G (p.Thr737=)
c.2040T>G (p.Thr680=)
c.1692T>G (p.Thr564=)
2g.1496158G>ACA345698208TPOc.2176G>A (p.Gly726Ser)
c.1657G>A (p.Gly553Ser)
c.2005G>A (p.Gly669Ser)
c.1963G>A (p.Gly655Ser)
c.600G>A
n.424+2119G>A
c.598G>A (p.Gly200Ser)
n.677+2119G>A
n.2177G>A
c.2212G>A (p.Gly738Ser)
c.2041G>A (p.Gly681Ser)
c.1693G>A (p.Gly565Ser)
gnomAD v4
2g.1496158G>CCA345698210TPOc.2176G>C (p.Gly726Arg)
c.1657G>C (p.Gly553Arg)
c.2005G>C (p.Gly669Arg)
c.1963G>C (p.Gly655Arg)
c.600G>C
n.424+2119G>C
c.598G>C (p.Gly200Arg)
n.677+2119G>C
n.2177G>C
c.2212G>C (p.Gly738Arg)
c.2041G>C (p.Gly681Arg)
c.1693G>C (p.Gly565Arg)
2g.1496158G>TCA345698209TPOc.2176G>T (p.Gly726Cys)
c.1657G>T (p.Gly553Cys)
c.2005G>T (p.Gly669Cys)
c.1963G>T (p.Gly655Cys)
c.600G>T
n.424+2119G>T
c.598G>T (p.Gly200Cys)
n.677+2119G>T
n.2177G>T
c.2212G>T (p.Gly738Cys)
c.2041G>T (p.Gly681Cys)
c.1693G>T (p.Gly565Cys)
2g.1496159G>ACA1511970TPOc.2177G>A (p.Gly726Asp)
c.1658G>A (p.Gly553Asp)
c.2006G>A (p.Gly669Asp)
c.1964G>A (p.Gly655Asp)
c.601G>A
n.424+2120G>A
c.599G>A (p.Gly200Asp)
n.677+2120G>A
n.2178G>A
c.2213G>A (p.Gly738Asp)
c.2042G>A (p.Gly681Asp)
c.1694G>A (p.Gly565Asp)
dbSNP ExAC gnomAD v2
2g.1496159G>CCA345698211TPOc.2177G>C (p.Gly726Ala)
c.1658G>C (p.Gly553Ala)
c.2006G>C (p.Gly669Ala)
c.1964G>C (p.Gly655Ala)
c.601G>C
n.424+2120G>C
c.599G>C (p.Gly200Ala)
n.677+2120G>C
n.2178G>C
c.2213G>C (p.Gly738Ala)
c.2042G>C (p.Gly681Ala)
c.1694G>C (p.Gly565Ala)
2g.1496159G=CA1233577922TPOc.2177G= (p.Gly726=)
c.1658G= (p.Gly553=)
c.2006G= (p.Gly669=)
c.1964G= (p.Gly655=)
c.601G=
n.424+2120G=
c.599G= (p.Gly200=)
n.677+2120G=
n.2178G=
c.2213G= (p.Gly738=)
c.2042G= (p.Gly681=)
c.1694G= (p.Gly565=)
2g.1496159G>TCA345698212TPOc.2177G>T (p.Gly726Val)
c.1658G>T (p.Gly553Val)
c.2006G>T (p.Gly669Val)
c.1964G>T (p.Gly655Val)
c.601G>T
n.424+2120G>T
c.599G>T (p.Gly200Val)
n.677+2120G>T
n.2178G>T
c.2213G>T (p.Gly738Val)
c.2042G>T (p.Gly681Val)
c.1694G>T (p.Gly565Val)
COSMIC
2g.1496160C>ACA424757133TPOc.2178C>A (p.Gly726=)
c.1659C>A (p.Gly553=)
c.2007C>A (p.Gly669=)
c.1965C>A (p.Gly655=)
c.602C>A
n.424+2121C>A
c.600C>A (p.Gly200=)
n.677+2121C>A
n.2179C>A
c.2214C>A (p.Gly738=)
c.2043C>A (p.Gly681=)
c.1695C>A (p.Gly565=)
2g.1496160C>GCA424757134TPOc.2178C>G (p.Gly726=)
c.1659C>G (p.Gly553=)
c.2007C>G (p.Gly669=)
c.1965C>G (p.Gly655=)
c.602C>G
n.424+2121C>G
c.600C>G (p.Gly200=)
n.677+2121C>G
n.2179C>G
c.2214C>G (p.Gly738=)
c.2043C>G (p.Gly681=)
c.1695C>G (p.Gly565=)
2g.1496160C>TCA424757136TPOc.2178C>T (p.Gly726=)
c.1659C>T (p.Gly553=)
c.2007C>T (p.Gly669=)
c.1965C>T (p.Gly655=)
c.602C>T
n.424+2121C>T
c.600C>T (p.Gly200=)
n.677+2121C>T
n.2179C>T
c.2214C>T (p.Gly738=)
c.2043C>T (p.Gly681=)
c.1695C>T (p.Gly565=)
gnomAD v4
2g.1496161A=CA1233577923TPOc.2179A= (p.Met727=)
c.1660A= (p.Met554=)
c.2008A= (p.Met670=)
c.1966A= (p.Met656=)
c.603A=
n.424+2122A=
c.601A= (p.Met201=)
n.677+2122A=
n.2180A=
c.2215A= (p.Met739=)
c.2044A= (p.Met682=)
c.1696A= (p.Met566=)
2g.1496161A>CCA345698213TPOc.2179A>C (p.Met727Leu)
c.1660A>C (p.Met554Leu)
c.2008A>C (p.Met670Leu)
c.1966A>C (p.Met656Leu)
c.603A>C
n.424+2122A>C
c.601A>C (p.Met201Leu)
n.677+2122A>C
n.2180A>C
c.2215A>C (p.Met739Leu)
c.2044A>C (p.Met682Leu)
c.1696A>C (p.Met566Leu)
2g.1496161A>GCA345698214TPOc.2179A>G (p.Met727Val)
c.1660A>G (p.Met554Val)
c.2008A>G (p.Met670Val)
c.1966A>G (p.Met656Val)
c.603A>G
n.424+2122A>G
c.601A>G (p.Met201Val)
n.677+2122A>G
n.2180A>G
c.2215A>G (p.Met739Val)
c.2044A>G (p.Met682Val)
c.1696A>G (p.Met566Val)
dbSNP gnomAD v4
2g.1496161A>TCA345698215TPOc.2179A>T (p.Met727Leu)
c.1660A>T (p.Met554Leu)
c.2008A>T (p.Met670Leu)
c.1966A>T (p.Met656Leu)
c.603A>T
n.424+2122A>T
c.601A>T (p.Met201Leu)
n.677+2122A>T
n.2180A>T
c.2215A>T (p.Met739Leu)
c.2044A>T (p.Met682Leu)
c.1696A>T (p.Met566Leu)
2g.1496162T>ACA345698216TPOc.2180T>A (p.Met727Lys)
c.1661T>A (p.Met554Lys)
c.2009T>A (p.Met670Lys)
c.1967T>A (p.Met656Lys)
c.604T>A
n.424+2123T>A
c.602T>A (p.Met201Lys)
n.677+2123T>A
n.2181T>A
c.2216T>A (p.Met739Lys)
c.2045T>A (p.Met682Lys)
c.1697T>A (p.Met566Lys)
2g.1496162T>CCA345698218TPOc.2180T>C (p.Met727Thr)
c.1661T>C (p.Met554Thr)
c.2009T>C (p.Met670Thr)
c.1967T>C (p.Met656Thr)
c.604T>C
n.424+2123T>C
c.602T>C (p.Met201Thr)
n.677+2123T>C
n.2181T>C
c.2216T>C (p.Met739Thr)
c.2045T>C (p.Met682Thr)
c.1697T>C (p.Met566Thr)
2g.1496162T>GCA345698220TPOc.2180T>G (p.Met727Arg)
c.1661T>G (p.Met554Arg)
c.2009T>G (p.Met670Arg)
c.1967T>G (p.Met656Arg)
c.604T>G
n.424+2123T>G
c.602T>G (p.Met201Arg)
n.677+2123T>G
n.2181T>G
c.2216T>G (p.Met739Arg)
c.2045T>G (p.Met682Arg)
c.1697T>G (p.Met566Arg)
2g.1496163G>ACA345698221TPOc.2181G>A (p.Met727Ile)
c.1662G>A (p.Met554Ile)
c.2010G>A (p.Met670Ile)
c.1968G>A (p.Met656Ile)
c.605G>A
n.424+2124G>A
c.603G>A (p.Met201Ile)
n.677+2124G>A
n.2182G>A
c.2217G>A (p.Met739Ile)
c.2046G>A (p.Met682Ile)
c.1698G>A (p.Met566Ile)
gnomAD v4
2g.1496163G>CCA345698222TPOc.2181G>C (p.Met727Ile)
c.1662G>C (p.Met554Ile)
c.2010G>C (p.Met670Ile)
c.1968G>C (p.Met656Ile)
c.605G>C
n.424+2124G>C
c.603G>C (p.Met201Ile)
n.677+2124G>C
n.2182G>C
c.2217G>C (p.Met739Ile)
c.2046G>C (p.Met682Ile)
c.1698G>C (p.Met566Ile)
2g.1496163G=CA1233577924TPOc.2181G= (p.Met727=)
c.1662G= (p.Met554=)
c.2010G= (p.Met670=)
c.1968G= (p.Met656=)
c.605G=
n.424+2124G=
c.603G= (p.Met201=)
n.677+2124G=
n.2182G=
c.2217G= (p.Met739=)
c.2046G= (p.Met682=)
c.1698G= (p.Met566=)
2g.1496163G>TCA10610888TPOc.2181G>T (p.Met727Ile)
c.1662G>T (p.Met554Ile)
c.2010G>T (p.Met670Ile)
c.1968G>T (p.Met656Ile)
c.605G>T
n.424+2124G>T
c.603G>T (p.Met201Ile)
n.677+2124G>T
n.2182G>T
c.2217G>T (p.Met739Ile)
c.2046G>T (p.Met682Ile)
c.1698G>T (p.Met566Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.1496164A>CCA345698225TPOc.2182A>C (p.Asn728His)
c.1663A>C (p.Asn555His)
c.2011A>C (p.Asn671His)
c.1969A>C (p.Asn657His)
c.606A>C
n.424+2125A>C
c.604A>C (p.Asn202His)
n.677+2125A>C
n.2183A>C
c.2218A>C (p.Asn740His)
c.2047A>C (p.Asn683His)
c.1699A>C (p.Asn567His)
2g.1496164A>GCA345698224TPOc.2182A>G (p.Asn728Asp)
c.1663A>G (p.Asn555Asp)
c.2011A>G (p.Asn671Asp)
c.1969A>G (p.Asn657Asp)
c.606A>G
n.424+2125A>G
c.604A>G (p.Asn202Asp)
n.677+2125A>G
n.2183A>G
c.2218A>G (p.Asn740Asp)
c.2047A>G (p.Asn683Asp)
c.1699A>G (p.Asn567Asp)
2g.1496164A>TCA345698223TPOc.2182A>T (p.Asn728Tyr)
c.1663A>T (p.Asn555Tyr)
c.2011A>T (p.Asn671Tyr)
c.1969A>T (p.Asn657Tyr)
c.606A>T
n.424+2125A>T
c.604A>T (p.Asn202Tyr)
n.677+2125A>T
n.2183A>T
c.2218A>T (p.Asn740Tyr)
c.2047A>T (p.Asn683Tyr)
c.1699A>T (p.Asn567Tyr)
2g.1496165A>CCA345698226TPOc.2183A>C (p.Asn728Thr)
c.1664A>C (p.Asn555Thr)
c.2012A>C (p.Asn671Thr)
c.1970A>C (p.Asn657Thr)
c.607A>C
n.424+2126A>C
c.605A>C (p.Asn202Thr)
n.677+2126A>C
n.2184A>C
c.2219A>C (p.Asn740Thr)
c.2048A>C (p.Asn683Thr)
c.1700A>C (p.Asn567Thr)
2g.1496165A>GCA345698227TPOc.2183A>G (p.Asn728Ser)
c.1664A>G (p.Asn555Ser)
c.2012A>G (p.Asn671Ser)
c.1970A>G (p.Asn657Ser)
c.607A>G
n.424+2126A>G
c.605A>G (p.Asn202Ser)
n.677+2126A>G
n.2184A>G
c.2219A>G (p.Asn740Ser)
c.2048A>G (p.Asn683Ser)
c.1700A>G (p.Asn567Ser)
2g.1496165A>TCA345698228TPOc.2183A>T (p.Asn728Ile)
c.1664A>T (p.Asn555Ile)
c.2012A>T (p.Asn671Ile)
c.1970A>T (p.Asn657Ile)
c.607A>T
n.424+2126A>T
c.605A>T (p.Asn202Ile)
n.677+2126A>T
n.2184A>T
c.2219A>T (p.Asn740Ile)
c.2048A>T (p.Asn683Ile)
c.1700A>T (p.Asn567Ile)
2g.1496166C>ACA345698229TPOc.2184C>A (p.Asn728Lys)
c.1665C>A (p.Asn555Lys)
c.2013C>A (p.Asn671Lys)
c.1971C>A (p.Asn657Lys)
c.608C>A
n.424+2127C>A
c.606C>A (p.Asn202Lys)
n.677+2127C>A
n.2185C>A
c.2220C>A (p.Asn740Lys)
c.2049C>A (p.Asn683Lys)
c.1701C>A (p.Asn567Lys)
2g.1496166C>GCA345698230TPOc.2184C>G (p.Asn728Lys)
c.1665C>G (p.Asn555Lys)
c.2013C>G (p.Asn671Lys)
c.1971C>G (p.Asn657Lys)
c.608C>G
n.424+2127C>G
c.606C>G (p.Asn202Lys)
n.677+2127C>G
n.2185C>G
c.2220C>G (p.Asn740Lys)
c.2049C>G (p.Asn683Lys)
c.1701C>G (p.Asn567Lys)
2g.1496166C>TCA424757147TPOc.2184C>T (p.Asn728=)
c.1665C>T (p.Asn555=)
c.2013C>T (p.Asn671=)
c.1971C>T (p.Asn657=)
c.608C>T
n.424+2127C>T
c.606C>T (p.Asn202=)
n.677+2127C>T
n.2185C>T
c.2220C>T (p.Asn740=)
c.2049C>T (p.Asn683=)
c.1701C>T (p.Asn567=)
2g.1496167C>ACA345698231TPOc.2185C>A (p.Leu729Met)
c.1666C>A (p.Leu556Met)
c.2014C>A (p.Leu672Met)
c.1972C>A (p.Leu658Met)
c.609C>A
n.424+2128C>A
c.607C>A (p.Leu203Met)
n.677+2128C>A
n.2186C>A
c.2221C>A (p.Leu741Met)
c.2050C>A (p.Leu684Met)
c.1702C>A (p.Leu568Met)
2g.1496167C>GCA345698232TPOc.2185C>G (p.Leu729Val)
c.1666C>G (p.Leu556Val)
c.2014C>G (p.Leu672Val)
c.1972C>G (p.Leu658Val)
c.609C>G
n.424+2128C>G
c.607C>G (p.Leu203Val)
n.677+2128C>G
n.2186C>G
c.2221C>G (p.Leu741Val)
c.2050C>G (p.Leu684Val)
c.1702C>G (p.Leu568Val)
2g.1496167C>TCA424757151TPOc.2185C>T (p.Leu729=)
c.1666C>T (p.Leu556=)
c.2014C>T (p.Leu672=)
c.1972C>T (p.Leu658=)
c.609C>T
n.424+2128C>T
c.607C>T (p.Leu203=)
n.677+2128C>T
n.2186C>T
c.2221C>T (p.Leu741=)
c.2050C>T (p.Leu684=)
c.1702C>T (p.Leu568=)
gnomAD v4
2g.1496168T>ACA345698233TPOc.2186T>A (p.Leu729Gln)
c.1667T>A (p.Leu556Gln)
c.2015T>A (p.Leu672Gln)
c.1973T>A (p.Leu658Gln)
c.610T>A
n.424+2129T>A
c.608T>A (p.Leu203Gln)
n.677+2129T>A
n.2187T>A
c.2222T>A (p.Leu741Gln)
c.2051T>A (p.Leu684Gln)
c.1703T>A (p.Leu568Gln)
2g.1496168T>CCA345698234TPOc.2186T>C (p.Leu729Pro)
c.1667T>C (p.Leu556Pro)
c.2015T>C (p.Leu672Pro)
c.1973T>C (p.Leu658Pro)
c.610T>C
n.424+2129T>C
c.608T>C (p.Leu203Pro)
n.677+2129T>C
n.2187T>C
c.2222T>C (p.Leu741Pro)
c.2051T>C (p.Leu684Pro)
c.1703T>C (p.Leu568Pro)
gnomAD v4
2g.1496168T>GCA345698235TPOc.2186T>G (p.Leu729Arg)
c.1667T>G (p.Leu556Arg)
c.2015T>G (p.Leu672Arg)
c.1973T>G (p.Leu658Arg)
c.610T>G
n.424+2129T>G
c.608T>G (p.Leu203Arg)
n.677+2129T>G
n.2187T>G
c.2222T>G (p.Leu741Arg)
c.2051T>G (p.Leu684Arg)
c.1703T>G (p.Leu568Arg)
2g.1496169G>ACA424757158TPOc.2187G>A (p.Leu729=)
c.1668G>A (p.Leu556=)
c.2016G>A (p.Leu672=)
c.1974G>A (p.Leu658=)
c.611G>A
n.424+2130G>A
c.609G>A (p.Leu203=)
n.677+2130G>A
n.2188G>A
c.2223G>A (p.Leu741=)
c.2052G>A (p.Leu684=)
c.1704G>A (p.Leu568=)
2g.1496169G>CCA424757156TPOc.2187G>C (p.Leu729=)
c.1668G>C (p.Leu556=)
c.2016G>C (p.Leu672=)
c.1974G>C (p.Leu658=)
c.611G>C
n.424+2130G>C
c.609G>C (p.Leu203=)
n.677+2130G>C
n.2188G>C
c.2223G>C (p.Leu741=)
c.2052G>C (p.Leu684=)
c.1704G>C (p.Leu568=)
2g.1496169G>TCA424757157TPOc.2187G>T (p.Leu729=)
c.1668G>T (p.Leu556=)
c.2016G>T (p.Leu672=)
c.1974G>T (p.Leu658=)
c.611G>T
n.424+2130G>T
c.609G>T (p.Leu203=)
n.677+2130G>T
n.2188G>T
c.2223G>T (p.Leu741=)
c.2052G>T (p.Leu684=)
c.1704G>T (p.Leu568=)
2g.1496170G>ACA345698236TPOc.2188G>A (p.Glu730Lys)
c.1669G>A (p.Glu557Lys)
c.2017G>A (p.Glu673Lys)
c.1975G>A (p.Glu659Lys)
c.612G>A
n.424+2131G>A
c.610G>A (p.Glu204Lys)
n.677+2131G>A
n.2189G>A
c.2224G>A (p.Glu742Lys)
c.2053G>A (p.Glu685Lys)
c.1705G>A (p.Glu569Lys)
2g.1496170G>CCA345698237TPOc.2188G>C (p.Glu730Gln)
c.1669G>C (p.Glu557Gln)
c.2017G>C (p.Glu673Gln)
c.1975G>C (p.Glu659Gln)
c.612G>C
n.424+2131G>C
c.610G>C (p.Glu204Gln)
n.677+2131G>C
n.2189G>C
c.2224G>C (p.Glu742Gln)
c.2053G>C (p.Glu685Gln)
c.1705G>C (p.Glu569Gln)
2g.1496170G>TCA345698238TPOc.2188G>T (p.Glu730Ter)
c.1669G>T (p.Glu557Ter)
c.2017G>T (p.Glu673Ter)
c.1975G>T (p.Glu659Ter)
c.612G>T
n.424+2131G>T
c.610G>T (p.Glu204Ter)
n.677+2131G>T
n.2189G>T
c.2224G>T (p.Glu742Ter)
c.2053G>T (p.Glu685Ter)
c.1705G>T (p.Glu569Ter)
2g.1496171A>CCA345698240TPOc.2189A>C (p.Glu730Ala)
c.1670A>C (p.Glu557Ala)
c.2018A>C (p.Glu673Ala)
c.1976A>C (p.Glu659Ala)
c.613A>C
n.424+2132A>C
c.611A>C (p.Glu204Ala)
n.677+2132A>C
n.2190A>C
c.2225A>C (p.Glu742Ala)
c.2054A>C (p.Glu685Ala)
c.1706A>C (p.Glu569Ala)
2g.1496171A>GCA345698241TPOc.2189A>G (p.Glu730Gly)
c.1670A>G (p.Glu557Gly)
c.2018A>G (p.Glu673Gly)
c.1976A>G (p.Glu659Gly)
c.613A>G
n.424+2132A>G
c.611A>G (p.Glu204Gly)
n.677+2132A>G
n.2190A>G
c.2225A>G (p.Glu742Gly)
c.2054A>G (p.Glu685Gly)
c.1706A>G (p.Glu569Gly)
2g.1496171A>TCA345698239TPOc.2189A>T (p.Glu730Val)
c.1670A>T (p.Glu557Val)
c.2018A>T (p.Glu673Val)
c.1976A>T (p.Glu659Val)
c.613A>T
n.424+2132A>T
c.611A>T (p.Glu204Val)
n.677+2132A>T
n.2190A>T
c.2225A>T (p.Glu742Val)
c.2054A>T (p.Glu685Val)
c.1706A>T (p.Glu569Val)
gnomAD v4
2g.1496172G>ACA424757164TPOc.2190G>A (p.Glu730=)
c.1671G>A (p.Glu557=)
c.2019G>A (p.Glu673=)
c.1977G>A (p.Glu659=)
c.614G>A
n.424+2133G>A
c.612G>A (p.Glu204=)
n.677+2133G>A
n.2191G>A
c.2226G>A (p.Glu742=)
c.2055G>A (p.Glu685=)
c.1707G>A (p.Glu569=)
dbSNP
2g.1496172G>CCA345698242TPOc.2190G>C (p.Glu730Asp)
c.1671G>C (p.Glu557Asp)
c.2019G>C (p.Glu673Asp)
c.1977G>C (p.Glu659Asp)
c.614G>C
n.424+2133G>C
c.612G>C (p.Glu204Asp)
n.677+2133G>C
n.2191G>C
c.2226G>C (p.Glu742Asp)
c.2055G>C (p.Glu685Asp)
c.1707G>C (p.Glu569Asp)
2g.1496172G=CA1233577925TPOc.2190G= (p.Glu730=)
c.1671G= (p.Glu557=)
c.2019G= (p.Glu673=)
c.1977G= (p.Glu659=)
c.614G=
n.424+2133G=
c.612G= (p.Glu204=)
n.677+2133G=
n.2191G=
c.2226G= (p.Glu742=)
c.2055G= (p.Glu685=)
c.1707G= (p.Glu569=)
2g.1496172G>TCA345698243TPOc.2190G>T (p.Glu730Asp)
c.1671G>T (p.Glu557Asp)
c.2019G>T (p.Glu673Asp)
c.1977G>T (p.Glu659Asp)
c.614G>T
n.424+2133G>T
c.612G>T (p.Glu204Asp)
n.677+2133G>T
n.2191G>T
c.2226G>T (p.Glu742Asp)
c.2055G>T (p.Glu685Asp)
c.1707G>T (p.Glu569Asp)

Number of alleles fetched