Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.1496004C>ACA345697627TPOc.2022C>A (p.Asn674Lys)
c.1503C>A (p.Asn501Lys)
c.1851C>A (p.Asn617Lys)
c.1809C>A (p.Asn603Lys)
c.446C>A
n.424+1965C>A
c.444C>A (p.Asn148Lys)
n.677+1965C>A
n.2023C>A
c.2058C>A (p.Asn686Lys)
c.1887C>A (p.Asn629Lys)
c.1539C>A (p.Asn513Lys)
2g.1496004C=CA1233577857TPOc.2022C= (p.Asn674=)
c.1503C= (p.Asn501=)
c.1851C= (p.Asn617=)
c.1809C= (p.Asn603=)
c.446C=
n.424+1965C=
c.444C= (p.Asn148=)
n.677+1965C=
n.2023C=
c.2058C= (p.Asn686=)
c.1887C= (p.Asn629=)
c.1539C= (p.Asn513=)
2g.1496004C>GCA345697628TPOc.2022C>G (p.Asn674Lys)
c.1503C>G (p.Asn501Lys)
c.1851C>G (p.Asn617Lys)
c.1809C>G (p.Asn603Lys)
c.446C>G
n.424+1965C>G
c.444C>G (p.Asn148Lys)
n.677+1965C>G
n.2023C>G
c.2058C>G (p.Asn686Lys)
c.1887C>G (p.Asn629Lys)
c.1539C>G (p.Asn513Lys)
2g.1496004C>TCA41426808TPOc.2022C>T (p.Asn674=)
c.1503C>T (p.Asn501=)
c.1851C>T (p.Asn617=)
c.1809C>T (p.Asn603=)
c.446C>T
n.424+1965C>T
c.444C>T (p.Asn148=)
n.677+1965C>T
n.2023C>T
c.2058C>T (p.Asn686=)
c.1887C>T (p.Asn629=)
c.1539C>T (p.Asn513=)
dbSNP gnomAD v3 gnomAD v4
2g.1496004_1496005delinsCACA1233577856TPOc.2022_2023delinsCA (p.Asn674=)
c.1503_1504delinsCA (p.Asn501=)
c.1851_1852delinsCA (p.Asn617=)
c.1809_1810delinsCA (p.Asn603=)
c.446_447delinsCA
n.424+1965_424+1966delinsCA
c.444_445delinsCA (p.Asn148=)
n.677+1965_677+1966delinsCA
n.2023_2024delinsCA
c.2058_2059delinsCA (p.Asn686=)
c.1887_1888delinsCA (p.Asn629=)
c.1539_1540delinsCA (p.Asn513=)
2g.1496005delCA758649160TPOc.2023del (p.Ser675AlafsTer?)
c.1504del (p.Ser502AlafsTer?)
c.1852del (p.Ser618AlafsTer?)
c.1810del (p.Ser604AlafsTer?)
c.447del
n.424+1966del
c.445del (p.Ser149AlafsTer?)
n.677+1966del
n.2024del
c.2059del (p.Ser687AlafsTer?)
c.1888del (p.Ser630AlafsTer?)
c.1540del (p.Ser514AlafsTer?)
ClinVar dbSNP gnomAD v4
2g.1496005A>CCA345697631TPOc.2023A>C (p.Ser675Arg)
c.1504A>C (p.Ser502Arg)
c.1852A>C (p.Ser618Arg)
c.1810A>C (p.Ser604Arg)
c.447A>C
n.424+1966A>C
c.445A>C (p.Ser149Arg)
n.677+1966A>C
n.2024A>C
c.2059A>C (p.Ser687Arg)
c.1888A>C (p.Ser630Arg)
c.1540A>C (p.Ser514Arg)
gnomAD v4
2g.1496005A>GCA345697633TPOc.2023A>G (p.Ser675Gly)
c.1504A>G (p.Ser502Gly)
c.1852A>G (p.Ser618Gly)
c.1810A>G (p.Ser604Gly)
c.447A>G
n.424+1966A>G
c.445A>G (p.Ser149Gly)
n.677+1966A>G
n.2024A>G
c.2059A>G (p.Ser687Gly)
c.1888A>G (p.Ser630Gly)
c.1540A>G (p.Ser514Gly)
2g.1496005A>TCA345697634TPOc.2023A>T (p.Ser675Cys)
c.1504A>T (p.Ser502Cys)
c.1852A>T (p.Ser618Cys)
c.1810A>T (p.Ser604Cys)
c.447A>T
n.424+1966A>T
c.445A>T (p.Ser149Cys)
n.677+1966A>T
n.2024A>T
c.2059A>T (p.Ser687Cys)
c.1888A>T (p.Ser630Cys)
c.1540A>T (p.Ser514Cys)
2g.1496006G>ACA345697636TPOc.2024G>A (p.Ser675Asn)
c.1505G>A (p.Ser502Asn)
c.1853G>A (p.Ser618Asn)
c.1811G>A (p.Ser604Asn)
c.448G>A
n.424+1967G>A
c.446G>A (p.Ser149Asn)
n.677+1967G>A
n.2025G>A
c.2060G>A (p.Ser687Asn)
c.1889G>A (p.Ser630Asn)
c.1541G>A (p.Ser514Asn)
2g.1496006G>CCA345697639TPOc.2024G>C (p.Ser675Thr)
c.1505G>C (p.Ser502Thr)
c.1853G>C (p.Ser618Thr)
c.1811G>C (p.Ser604Thr)
c.448G>C
n.424+1967G>C
c.446G>C (p.Ser149Thr)
n.677+1967G>C
n.2025G>C
c.2060G>C (p.Ser687Thr)
c.1889G>C (p.Ser630Thr)
c.1541G>C (p.Ser514Thr)
2g.1496006G>TCA345697641TPOc.2024G>T (p.Ser675Ile)
c.1505G>T (p.Ser502Ile)
c.1853G>T (p.Ser618Ile)
c.1811G>T (p.Ser604Ile)
c.448G>T
n.424+1967G>T
c.446G>T (p.Ser149Ile)
n.677+1967G>T
n.2025G>T
c.2060G>T (p.Ser687Ile)
c.1889G>T (p.Ser630Ile)
c.1541G>T (p.Ser514Ile)
2g.1496007C>ACA345697642TPOc.2025C>A (p.Ser675Arg)
c.1506C>A (p.Ser502Arg)
c.1854C>A (p.Ser618Arg)
c.1812C>A (p.Ser604Arg)
c.449C>A
n.424+1968C>A
c.447C>A (p.Ser149Arg)
n.677+1968C>A
n.2026C>A
c.2061C>A (p.Ser687Arg)
c.1890C>A (p.Ser630Arg)
c.1542C>A (p.Ser514Arg)
2g.1496007C=CA1233577858TPOc.2025C= (p.Ser675=)
c.1506C= (p.Ser502=)
c.1854C= (p.Ser618=)
c.1812C= (p.Ser604=)
c.449C=
n.424+1968C=
c.447C= (p.Ser149=)
n.677+1968C=
n.2026C=
c.2061C= (p.Ser687=)
c.1890C= (p.Ser630=)
c.1542C= (p.Ser514=)
2g.1496007C>GCA345697643TPOc.2025C>G (p.Ser675Arg)
c.1506C>G (p.Ser502Arg)
c.1854C>G (p.Ser618Arg)
c.1812C>G (p.Ser604Arg)
c.449C>G
n.424+1968C>G
c.447C>G (p.Ser149Arg)
n.677+1968C>G
n.2026C>G
c.2061C>G (p.Ser687Arg)
c.1890C>G (p.Ser630Arg)
c.1542C>G (p.Ser514Arg)
2g.1496007C>TCA424756793TPOc.2025C>T (p.Ser675=)
c.1506C>T (p.Ser502=)
c.1854C>T (p.Ser618=)
c.1812C>T (p.Ser604=)
c.449C>T
n.424+1968C>T
c.447C>T (p.Ser149=)
n.677+1968C>T
n.2026C>T
c.2061C>T (p.Ser687=)
c.1890C>T (p.Ser630=)
c.1542C>T (p.Ser514=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1496008C>ACA345697645TPOc.2026C>A (p.His676Asn)
c.1507C>A (p.His503Asn)
c.1855C>A (p.His619Asn)
c.1813C>A (p.His605Asn)
c.450C>A
n.424+1969C>A
c.448C>A (p.His150Asn)
n.677+1969C>A
n.2027C>A
c.2062C>A (p.His688Asn)
c.1891C>A (p.His631Asn)
c.1543C>A (p.His515Asn)
2g.1496008C=CA1233577859TPOc.2026C= (p.His676=)
c.1507C= (p.His503=)
c.1855C= (p.His619=)
c.1813C= (p.His605=)
c.450C=
n.424+1969C=
c.448C= (p.His150=)
n.677+1969C=
n.2027C=
c.2062C= (p.His688=)
c.1891C= (p.His631=)
c.1543C= (p.His515=)
2g.1496008C>GCA345697649TPOc.2026C>G (p.His676Asp)
c.1507C>G (p.His503Asp)
c.1855C>G (p.His619Asp)
c.1813C>G (p.His605Asp)
c.450C>G
n.424+1969C>G
c.448C>G (p.His150Asp)
n.677+1969C>G
n.2027C>G
c.2062C>G (p.His688Asp)
c.1891C>G (p.His631Asp)
c.1543C>G (p.His515Asp)
dbSNP gnomAD v2 gnomAD v4
2g.1496008C>TCA345697651TPOc.2026C>T (p.His676Tyr)
c.1507C>T (p.His503Tyr)
c.1855C>T (p.His619Tyr)
c.1813C>T (p.His605Tyr)
c.450C>T
n.424+1969C>T
c.448C>T (p.His150Tyr)
n.677+1969C>T
n.2027C>T
c.2062C>T (p.His688Tyr)
c.1891C>T (p.His631Tyr)
c.1543C>T (p.His515Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1496009A>CCA345697656TPOc.2027A>C (p.His676Pro)
c.1508A>C (p.His503Pro)
c.1856A>C (p.His619Pro)
c.1814A>C (p.His605Pro)
c.451A>C
n.424+1970A>C
c.449A>C (p.His150Pro)
n.677+1970A>C
n.2028A>C
c.2063A>C (p.His688Pro)
c.1892A>C (p.His631Pro)
c.1544A>C (p.His515Pro)
dbSNP
2g.1496009A>GCA345697659TPOc.2027A>G (p.His676Arg)
c.1508A>G (p.His503Arg)
c.1856A>G (p.His619Arg)
c.1814A>G (p.His605Arg)
c.451A>G
n.424+1970A>G
c.449A>G (p.His150Arg)
n.677+1970A>G
n.2028A>G
c.2063A>G (p.His688Arg)
c.1892A>G (p.His631Arg)
c.1544A>G (p.His515Arg)
2g.1496009A>TCA345697654TPOc.2027A>T (p.His676Leu)
c.1508A>T (p.His503Leu)
c.1856A>T (p.His619Leu)
c.1814A>T (p.His605Leu)
c.451A>T
n.424+1970A>T
c.449A>T (p.His150Leu)
n.677+1970A>T
n.2028A>T
c.2063A>T (p.His688Leu)
c.1892A>T (p.His631Leu)
c.1544A>T (p.His515Leu)
2g.1496010C>ACA1511939TPOc.2028C>A (p.His676Gln)
c.1509C>A (p.His503Gln)
c.1857C>A (p.His619Gln)
c.1815C>A (p.His605Gln)
c.452C>A
n.424+1971C>A
c.450C>A (p.His150Gln)
n.677+1971C>A
n.2029C>A
c.2064C>A (p.His688Gln)
c.1893C>A (p.His631Gln)
c.1545C>A (p.His515Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.1496010C=CA1233577860TPOc.2028C= (p.His676=)
c.1509C= (p.His503=)
c.1857C= (p.His619=)
c.1815C= (p.His605=)
c.452C=
n.424+1971C=
c.450C= (p.His150=)
n.677+1971C=
n.2029C=
c.2064C= (p.His688=)
c.1893C= (p.His631=)
c.1545C= (p.His515=)
2g.1496010C>GCA345697662TPOc.2028C>G (p.His676Gln)
c.1509C>G (p.His503Gln)
c.1857C>G (p.His619Gln)
c.1815C>G (p.His605Gln)
c.452C>G
n.424+1971C>G
c.450C>G (p.His150Gln)
n.677+1971C>G
n.2029C>G
c.2064C>G (p.His688Gln)
c.1893C>G (p.His631Gln)
c.1545C>G (p.His515Gln)
2g.1496010C>TCA1511940TPOc.2028C>T (p.His676=)
c.1509C>T (p.His503=)
c.1857C>T (p.His619=)
c.1815C>T (p.His605=)
c.452C>T
n.424+1971C>T
c.450C>T (p.His150=)
n.677+1971C>T
n.2029C>T
c.2064C>T (p.His688=)
c.1893C>T (p.His631=)
c.1545C>T (p.His515=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496011G>ACA1511941TPOc.2029G>A (p.Val677Ile)
c.1510G>A (p.Val504Ile)
c.1858G>A (p.Val620Ile)
c.1816G>A (p.Val606Ile)
c.453G>A
n.424+1972G>A
c.451G>A (p.Val151Ile)
n.677+1972G>A
n.2030G>A
c.2065G>A (p.Val689Ile)
c.1894G>A (p.Val632Ile)
c.1546G>A (p.Val516Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496011G>CCA345697665TPOc.2029G>C (p.Val677Leu)
c.1510G>C (p.Val504Leu)
c.1858G>C (p.Val620Leu)
c.1816G>C (p.Val606Leu)
c.453G>C
n.424+1972G>C
c.451G>C (p.Val151Leu)
n.677+1972G>C
n.2030G>C
c.2065G>C (p.Val689Leu)
c.1894G>C (p.Val632Leu)
c.1546G>C (p.Val516Leu)
2g.1496011G=CA1233577861TPOc.2029G= (p.Val677=)
c.1510G= (p.Val504=)
c.1858G= (p.Val620=)
c.1816G= (p.Val606=)
c.453G=
n.424+1972G=
c.451G= (p.Val151=)
n.677+1972G=
n.2030G=
c.2065G= (p.Val689=)
c.1894G= (p.Val632=)
c.1546G= (p.Val516=)
2g.1496011G>TCA345697667TPOc.2029G>T (p.Val677Phe)
c.1510G>T (p.Val504Phe)
c.1858G>T (p.Val620Phe)
c.1816G>T (p.Val606Phe)
c.453G>T
n.424+1972G>T
c.451G>T (p.Val151Phe)
n.677+1972G>T
n.2030G>T
c.2065G>T (p.Val689Phe)
c.1894G>T (p.Val632Phe)
c.1546G>T (p.Val516Phe)
2g.1496012T>ACA345697669TPOc.2030T>A (p.Val677Asp)
c.1511T>A (p.Val504Asp)
c.1859T>A (p.Val620Asp)
c.1817T>A (p.Val606Asp)
c.454T>A
n.424+1973T>A
c.452T>A (p.Val151Asp)
n.677+1973T>A
n.2031T>A
c.2066T>A (p.Val689Asp)
c.1895T>A (p.Val632Asp)
c.1547T>A (p.Val516Asp)
2g.1496012T>CCA345697671TPOc.2030T>C (p.Val677Ala)
c.1511T>C (p.Val504Ala)
c.1859T>C (p.Val620Ala)
c.1817T>C (p.Val606Ala)
c.454T>C
n.424+1973T>C
c.452T>C (p.Val151Ala)
n.677+1973T>C
n.2031T>C
c.2066T>C (p.Val689Ala)
c.1895T>C (p.Val632Ala)
c.1547T>C (p.Val516Ala)
dbSNP
2g.1496012T>GCA345697673TPOc.2030T>G (p.Val677Gly)
c.1511T>G (p.Val504Gly)
c.1859T>G (p.Val620Gly)
c.1817T>G (p.Val606Gly)
c.454T>G
n.424+1973T>G
c.452T>G (p.Val151Gly)
n.677+1973T>G
n.2031T>G
c.2066T>G (p.Val689Gly)
c.1895T>G (p.Val632Gly)
c.1547T>G (p.Val516Gly)
2g.1496013C>ACA424756802TPOc.2031C>A (p.Val677=)
c.1512C>A (p.Val504=)
c.1860C>A (p.Val620=)
c.1818C>A (p.Val606=)
c.455C>A
n.424+1974C>A
c.453C>A (p.Val151=)
n.677+1974C>A
n.2032C>A
c.2067C>A (p.Val689=)
c.1896C>A (p.Val632=)
c.1548C>A (p.Val516=)
2g.1496013C>GCA424756800TPOc.2031C>G (p.Val677=)
c.1512C>G (p.Val504=)
c.1860C>G (p.Val620=)
c.1818C>G (p.Val606=)
c.455C>G
n.424+1974C>G
c.453C>G (p.Val151=)
n.677+1974C>G
n.2032C>G
c.2067C>G (p.Val689=)
c.1896C>G (p.Val632=)
c.1548C>G (p.Val516=)
2g.1496013C>TCA424756801TPOc.2031C>T (p.Val677=)
c.1512C>T (p.Val504=)
c.1860C>T (p.Val620=)
c.1818C>T (p.Val606=)
c.455C>T
n.424+1974C>T
c.453C>T (p.Val151=)
n.677+1974C>T
n.2032C>T
c.2067C>T (p.Val689=)
c.1896C>T (p.Val632=)
c.1548C>T (p.Val516=)
2g.1496014T>ACA345697676TPOc.2032T>A (p.Phe678Ile)
c.1513T>A (p.Phe505Ile)
c.1861T>A (p.Phe621Ile)
c.1819T>A (p.Phe607Ile)
c.456T>A
n.424+1975T>A
c.454T>A (p.Phe152Ile)
n.677+1975T>A
n.2033T>A
c.2068T>A (p.Phe690Ile)
c.1897T>A (p.Phe633Ile)
c.1549T>A (p.Phe517Ile)
2g.1496014T>CCA41426829TPOc.2032T>C (p.Phe678Leu)
c.1513T>C (p.Phe505Leu)
c.1861T>C (p.Phe621Leu)
c.1819T>C (p.Phe607Leu)
c.456T>C
n.424+1975T>C
c.454T>C (p.Phe152Leu)
n.677+1975T>C
n.2033T>C
c.2068T>C (p.Phe690Leu)
c.1897T>C (p.Phe633Leu)
c.1549T>C (p.Phe517Leu)
dbSNP
2g.1496014T>GCA345697679TPOc.2032T>G (p.Phe678Val)
c.1513T>G (p.Phe505Val)
c.1861T>G (p.Phe621Val)
c.1819T>G (p.Phe607Val)
c.456T>G
n.424+1975T>G
c.454T>G (p.Phe152Val)
n.677+1975T>G
n.2033T>G
c.2068T>G (p.Phe690Val)
c.1897T>G (p.Phe633Val)
c.1549T>G (p.Phe517Val)
2g.1496014T=CA1233577862TPOc.2032T= (p.Phe678=)
c.1513T= (p.Phe505=)
c.1861T= (p.Phe621=)
c.1819T= (p.Phe607=)
c.456T=
n.424+1975T=
c.454T= (p.Phe152=)
n.677+1975T=
n.2033T=
c.2068T= (p.Phe690=)
c.1897T= (p.Phe633=)
c.1549T= (p.Phe517=)
2g.1496015T>ACA345697684TPOc.2033T>A (p.Phe678Tyr)
c.1514T>A (p.Phe505Tyr)
c.1862T>A (p.Phe621Tyr)
c.1820T>A (p.Phe607Tyr)
c.457T>A
n.424+1976T>A
c.455T>A (p.Phe152Tyr)
n.677+1976T>A
n.2034T>A
c.2069T>A (p.Phe690Tyr)
c.1898T>A (p.Phe633Tyr)
c.1550T>A (p.Phe517Tyr)
2g.1496015T>CCA345697685TPOc.2033T>C (p.Phe678Ser)
c.1514T>C (p.Phe505Ser)
c.1862T>C (p.Phe621Ser)
c.1820T>C (p.Phe607Ser)
c.457T>C
n.424+1976T>C
c.455T>C (p.Phe152Ser)
n.677+1976T>C
n.2034T>C
c.2069T>C (p.Phe690Ser)
c.1898T>C (p.Phe633Ser)
c.1550T>C (p.Phe517Ser)
2g.1496015T>GCA345697683TPOc.2033T>G (p.Phe678Cys)
c.1514T>G (p.Phe505Cys)
c.1862T>G (p.Phe621Cys)
c.1820T>G (p.Phe607Cys)
c.457T>G
n.424+1976T>G
c.455T>G (p.Phe152Cys)
n.677+1976T>G
n.2034T>G
c.2069T>G (p.Phe690Cys)
c.1898T>G (p.Phe633Cys)
c.1550T>G (p.Phe517Cys)
2g.1496016C>ACA345697686TPOc.2034C>A (p.Phe678Leu)
c.1515C>A (p.Phe505Leu)
c.1863C>A (p.Phe621Leu)
c.1821C>A (p.Phe607Leu)
c.458C>A
n.424+1977C>A
c.456C>A (p.Phe152Leu)
n.677+1977C>A
n.2035C>A
c.2070C>A (p.Phe690Leu)
c.1899C>A (p.Phe633Leu)
c.1551C>A (p.Phe517Leu)
2g.1496016C=CA1233577863TPOc.2034C= (p.Phe678=)
c.1515C= (p.Phe505=)
c.1863C= (p.Phe621=)
c.1821C= (p.Phe607=)
c.458C=
n.424+1977C=
c.456C= (p.Phe152=)
n.677+1977C=
n.2035C=
c.2070C= (p.Phe690=)
c.1899C= (p.Phe633=)
c.1551C= (p.Phe517=)
2g.1496016C>GCA345697688TPOc.2034C>G (p.Phe678Leu)
c.1515C>G (p.Phe505Leu)
c.1863C>G (p.Phe621Leu)
c.1821C>G (p.Phe607Leu)
c.458C>G
n.424+1977C>G
c.456C>G (p.Phe152Leu)
n.677+1977C>G
n.2035C>G
c.2070C>G (p.Phe690Leu)
c.1899C>G (p.Phe633Leu)
c.1551C>G (p.Phe517Leu)
2g.1496016C>TCA424756807TPOc.2034C>T (p.Phe678=)
c.1515C>T (p.Phe505=)
c.1863C>T (p.Phe621=)
c.1821C>T (p.Phe607=)
c.458C>T
n.424+1977C>T
c.456C>T (p.Phe152=)
n.677+1977C>T
n.2035C>T
c.2070C>T (p.Phe690=)
c.1899C>T (p.Phe633=)
c.1551C>T (p.Phe517=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.1496017A=CA1233577864TPOc.2035A= (p.Thr679=)
c.1516A= (p.Thr506=)
c.1864A= (p.Thr622=)
c.1822A= (p.Thr608=)
c.459A=
n.424+1978A=
c.457A= (p.Thr153=)
n.677+1978A=
n.2036A=
c.2071A= (p.Thr691=)
c.1900A= (p.Thr634=)
c.1552A= (p.Thr518=)
2g.1496017A>CCA345697691TPOc.2035A>C (p.Thr679Pro)
c.1516A>C (p.Thr506Pro)
c.1864A>C (p.Thr622Pro)
c.1822A>C (p.Thr608Pro)
c.459A>C
n.424+1978A>C
c.457A>C (p.Thr153Pro)
n.677+1978A>C
n.2036A>C
c.2071A>C (p.Thr691Pro)
c.1900A>C (p.Thr634Pro)
c.1552A>C (p.Thr518Pro)
dbSNP gnomAD v2 gnomAD v4
2g.1496017A>GCA345697697TPOc.2035A>G (p.Thr679Ala)
c.1516A>G (p.Thr506Ala)
c.1864A>G (p.Thr622Ala)
c.1822A>G (p.Thr608Ala)
c.459A>G
n.424+1978A>G
c.457A>G (p.Thr153Ala)
n.677+1978A>G
n.2036A>G
c.2071A>G (p.Thr691Ala)
c.1900A>G (p.Thr634Ala)
c.1552A>G (p.Thr518Ala)
2g.1496017A>TCA345697698TPOc.2035A>T (p.Thr679Ser)
c.1516A>T (p.Thr506Ser)
c.1864A>T (p.Thr622Ser)
c.1822A>T (p.Thr608Ser)
c.459A>T
n.424+1978A>T
c.457A>T (p.Thr153Ser)
n.677+1978A>T
n.2036A>T
c.2071A>T (p.Thr691Ser)
c.1900A>T (p.Thr634Ser)
c.1552A>T (p.Thr518Ser)
2g.1496018C>ACA345697704TPOc.2036C>A (p.Thr679Lys)
c.1517C>A (p.Thr506Lys)
c.1865C>A (p.Thr622Lys)
c.1823C>A (p.Thr608Lys)
c.460C>A
n.424+1979C>A
c.458C>A (p.Thr153Lys)
n.677+1979C>A
n.2037C>A
c.2072C>A (p.Thr691Lys)
c.1901C>A (p.Thr634Lys)
c.1553C>A (p.Thr518Lys)
2g.1496018C=CA1233577865TPOc.2036C= (p.Thr679=)
c.1517C= (p.Thr506=)
c.1865C= (p.Thr622=)
c.1823C= (p.Thr608=)
c.460C=
n.424+1979C=
c.458C= (p.Thr153=)
n.677+1979C=
n.2037C=
c.2072C= (p.Thr691=)
c.1901C= (p.Thr634=)
c.1553C= (p.Thr518=)
2g.1496018C>GCA345697702TPOc.2036C>G (p.Thr679Arg)
c.1517C>G (p.Thr506Arg)
c.1865C>G (p.Thr622Arg)
c.1823C>G (p.Thr608Arg)
c.460C>G
n.424+1979C>G
c.458C>G (p.Thr153Arg)
n.677+1979C>G
n.2037C>G
c.2072C>G (p.Thr691Arg)
c.1901C>G (p.Thr634Arg)
c.1553C>G (p.Thr518Arg)
2g.1496018C>TCA345697701TPOc.2036C>T (p.Thr679Met)
c.1517C>T (p.Thr506Met)
c.1865C>T (p.Thr622Met)
c.1823C>T (p.Thr608Met)
c.460C>T
n.424+1979C>T
c.458C>T (p.Thr153Met)
n.677+1979C>T
n.2037C>T
c.2072C>T (p.Thr691Met)
c.1901C>T (p.Thr634Met)
c.1553C>T (p.Thr518Met)
dbSNP gnomAD v2 gnomAD v4
2g.1496019G>ACA1511942TPOc.2037G>A (p.Thr679=)
c.1518G>A (p.Thr506=)
c.1866G>A (p.Thr622=)
c.1824G>A (p.Thr608=)
c.461G>A
n.424+1980G>A
c.459G>A (p.Thr153=)
n.677+1980G>A
n.2038G>A
c.2073G>A (p.Thr691=)
c.1902G>A (p.Thr634=)
c.1554G>A (p.Thr518=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496019G>CCA424756810TPOc.2037G>C (p.Thr679=)
c.1518G>C (p.Thr506=)
c.1866G>C (p.Thr622=)
c.1824G>C (p.Thr608=)
c.461G>C
n.424+1980G>C
c.459G>C (p.Thr153=)
n.677+1980G>C
n.2038G>C
c.2073G>C (p.Thr691=)
c.1902G>C (p.Thr634=)
c.1554G>C (p.Thr518=)
2g.1496019G=CA1233577866TPOc.2037G= (p.Thr679=)
c.1518G= (p.Thr506=)
c.1866G= (p.Thr622=)
c.1824G= (p.Thr608=)
c.461G=
n.424+1980G=
c.459G= (p.Thr153=)
n.677+1980G=
n.2038G=
c.2073G= (p.Thr691=)
c.1902G= (p.Thr634=)
c.1554G= (p.Thr518=)
2g.1496019G>TCA424756813TPOc.2037G>T (p.Thr679=)
c.1518G>T (p.Thr506=)
c.1866G>T (p.Thr622=)
c.1824G>T (p.Thr608=)
c.461G>T
n.424+1980G>T
c.459G>T (p.Thr153=)
n.677+1980G>T
n.2038G>T
c.2073G>T (p.Thr691=)
c.1902G>T (p.Thr634=)
c.1554G>T (p.Thr518=)
2g.1496020G>ACA345697708TPOc.2038G>A (p.Asp680Asn)
c.1519G>A (p.Asp507Asn)
c.1867G>A (p.Asp623Asn)
c.1825G>A (p.Asp609Asn)
c.462G>A
n.424+1981G>A
c.460G>A (p.Asp154Asn)
n.677+1981G>A
n.2039G>A
c.2074G>A (p.Asp692Asn)
c.1903G>A (p.Asp635Asn)
c.1555G>A (p.Asp519Asn)
COSMIC COSMIC
2g.1496020G>CCA345697710TPOc.2038G>C (p.Asp680His)
c.1519G>C (p.Asp507His)
c.1867G>C (p.Asp623His)
c.1825G>C (p.Asp609His)
c.462G>C
n.424+1981G>C
c.460G>C (p.Asp154His)
n.677+1981G>C
n.2039G>C
c.2074G>C (p.Asp692His)
c.1903G>C (p.Asp635His)
c.1555G>C (p.Asp519His)
2g.1496020G>TCA345697712TPOc.2038G>T (p.Asp680Tyr)
c.1519G>T (p.Asp507Tyr)
c.1867G>T (p.Asp623Tyr)
c.1825G>T (p.Asp609Tyr)
c.462G>T
n.424+1981G>T
c.460G>T (p.Asp154Tyr)
n.677+1981G>T
n.2039G>T
c.2074G>T (p.Asp692Tyr)
c.1903G>T (p.Asp635Tyr)
c.1555G>T (p.Asp519Tyr)
gnomAD v4
2g.1496021A=CA1233577867TPOc.2039A= (p.Asp680=)
c.1520A= (p.Asp507=)
c.1868A= (p.Asp623=)
c.1826A= (p.Asp609=)
c.463A=
n.424+1982A=
c.461A= (p.Asp154=)
n.677+1982A=
n.2040A=
c.2075A= (p.Asp692=)
c.1904A= (p.Asp635=)
c.1556A= (p.Asp519=)
2g.1496021A>CCA345697715TPOc.2039A>C (p.Asp680Ala)
c.1520A>C (p.Asp507Ala)
c.1868A>C (p.Asp623Ala)
c.1826A>C (p.Asp609Ala)
c.463A>C
n.424+1982A>C
c.461A>C (p.Asp154Ala)
n.677+1982A>C
n.2040A>C
c.2075A>C (p.Asp692Ala)
c.1904A>C (p.Asp635Ala)
c.1556A>C (p.Asp519Ala)
2g.1496021A>GCA1511943TPOc.2039A>G (p.Asp680Gly)
c.1520A>G (p.Asp507Gly)
c.1868A>G (p.Asp623Gly)
c.1826A>G (p.Asp609Gly)
c.463A>G
n.424+1982A>G
c.461A>G (p.Asp154Gly)
n.677+1982A>G
n.2040A>G
c.2075A>G (p.Asp692Gly)
c.1904A>G (p.Asp635Gly)
c.1556A>G (p.Asp519Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496021A>TCA41426846TPOc.2039A>T (p.Asp680Val)
c.1520A>T (p.Asp507Val)
c.1868A>T (p.Asp623Val)
c.1826A>T (p.Asp609Val)
c.463A>T
n.424+1982A>T
c.461A>T (p.Asp154Val)
n.677+1982A>T
n.2040A>T
c.2075A>T (p.Asp692Val)
c.1904A>T (p.Asp635Val)
c.1556A>T (p.Asp519Val)
dbSNP
2g.1496022T>ACA345697719TPOc.2040T>A (p.Asp680Glu)
c.1521T>A (p.Asp507Glu)
c.1869T>A (p.Asp623Glu)
c.1827T>A (p.Asp609Glu)
c.464T>A
n.424+1983T>A
c.462T>A (p.Asp154Glu)
n.677+1983T>A
n.2041T>A
c.2076T>A (p.Asp692Glu)
c.1905T>A (p.Asp635Glu)
c.1557T>A (p.Asp519Glu)
2g.1496022T>CCA424756820TPOc.2040T>C (p.Asp680=)
c.1521T>C (p.Asp507=)
c.1869T>C (p.Asp623=)
c.1827T>C (p.Asp609=)
c.464T>C
n.424+1983T>C
c.462T>C (p.Asp154=)
n.677+1983T>C
n.2041T>C
c.2076T>C (p.Asp692=)
c.1905T>C (p.Asp635=)
c.1557T>C (p.Asp519=)
2g.1496022T>GCA345697720TPOc.2040T>G (p.Asp680Glu)
c.1521T>G (p.Asp507Glu)
c.1869T>G (p.Asp623Glu)
c.1827T>G (p.Asp609Glu)
c.464T>G
n.424+1983T>G
c.462T>G (p.Asp154Glu)
n.677+1983T>G
n.2041T>G
c.2076T>G (p.Asp692Glu)
c.1905T>G (p.Asp635Glu)
c.1557T>G (p.Asp519Glu)
2g.1496023G>ACA345697722TPOc.2041G>A (p.Ala681Thr)
c.1522G>A (p.Ala508Thr)
c.1870G>A (p.Ala624Thr)
c.1828G>A (p.Ala610Thr)
c.465G>A
n.424+1984G>A
c.463G>A (p.Ala155Thr)
n.677+1984G>A
n.2042G>A
c.2077G>A (p.Ala693Thr)
c.1906G>A (p.Ala636Thr)
c.1558G>A (p.Ala520Thr)
dbSNP gnomAD v4
2g.1496023G>CCA345697726TPOc.2041G>C (p.Ala681Pro)
c.1522G>C (p.Ala508Pro)
c.1870G>C (p.Ala624Pro)
c.1828G>C (p.Ala610Pro)
c.465G>C
n.424+1984G>C
c.463G>C (p.Ala155Pro)
n.677+1984G>C
n.2042G>C
c.2077G>C (p.Ala693Pro)
c.1906G>C (p.Ala636Pro)
c.1558G>C (p.Ala520Pro)
2g.1496023G=CA1233577868TPOc.2041G= (p.Ala681=)
c.1522G= (p.Ala508=)
c.1870G= (p.Ala624=)
c.1828G= (p.Ala610=)
c.465G=
n.424+1984G=
c.463G= (p.Ala155=)
n.677+1984G=
n.2042G=
c.2077G= (p.Ala693=)
c.1906G= (p.Ala636=)
c.1558G= (p.Ala520=)
2g.1496023G>TCA345697724TPOc.2041G>T (p.Ala681Ser)
c.1522G>T (p.Ala508Ser)
c.1870G>T (p.Ala624Ser)
c.1828G>T (p.Ala610Ser)
c.465G>T
n.424+1984G>T
c.463G>T (p.Ala155Ser)
n.677+1984G>T
n.2042G>T
c.2077G>T (p.Ala693Ser)
c.1906G>T (p.Ala636Ser)
c.1558G>T (p.Ala520Ser)
COSMIC COSMIC
2g.1496024C>ACA345697729TPOc.2042C>A (p.Ala681Glu)
c.1523C>A (p.Ala508Glu)
c.1871C>A (p.Ala624Glu)
c.1829C>A (p.Ala610Glu)
c.466C>A
n.424+1985C>A
c.464C>A (p.Ala155Glu)
n.677+1985C>A
n.2043C>A
c.2078C>A (p.Ala693Glu)
c.1907C>A (p.Ala636Glu)
c.1559C>A (p.Ala520Glu)
2g.1496024C>GCA345697731TPOc.2042C>G (p.Ala681Gly)
c.1523C>G (p.Ala508Gly)
c.1871C>G (p.Ala624Gly)
c.1829C>G (p.Ala610Gly)
c.466C>G
n.424+1985C>G
c.464C>G (p.Ala155Gly)
n.677+1985C>G
n.2043C>G
c.2078C>G (p.Ala693Gly)
c.1907C>G (p.Ala636Gly)
c.1559C>G (p.Ala520Gly)
2g.1496024C>TCA345697737TPOc.2042C>T (p.Ala681Val)
c.1523C>T (p.Ala508Val)
c.1871C>T (p.Ala624Val)
c.1829C>T (p.Ala610Val)
c.466C>T
n.424+1985C>T
c.464C>T (p.Ala155Val)
n.677+1985C>T
n.2043C>T
c.2078C>T (p.Ala693Val)
c.1907C>T (p.Ala636Val)
c.1559C>T (p.Ala520Val)
gnomAD v3 gnomAD v4
2g.1496025A=CA1233577869TPOc.2043A= (p.Ala681=)
c.1524A= (p.Ala508=)
c.1872A= (p.Ala624=)
c.1830A= (p.Ala610=)
c.467A=
n.424+1986A=
c.465A= (p.Ala155=)
n.677+1986A=
n.2044A=
c.2079A= (p.Ala693=)
c.1908A= (p.Ala636=)
c.1560A= (p.Ala520=)
2g.1496025A>CCA1511944TPOc.2043A>C (p.Ala681=)
c.1524A>C (p.Ala508=)
c.1872A>C (p.Ala624=)
c.1830A>C (p.Ala610=)
c.467A>C
n.424+1986A>C
c.465A>C (p.Ala155=)
n.677+1986A>C
n.2044A>C
c.2079A>C (p.Ala693=)
c.1908A>C (p.Ala636=)
c.1560A>C (p.Ala520=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.1496025A>GCA424756821TPOc.2043A>G (p.Ala681=)
c.1524A>G (p.Ala508=)
c.1872A>G (p.Ala624=)
c.1830A>G (p.Ala610=)
c.467A>G
n.424+1986A>G
c.465A>G (p.Ala155=)
n.677+1986A>G
n.2044A>G
c.2079A>G (p.Ala693=)
c.1908A>G (p.Ala636=)
c.1560A>G (p.Ala520=)
2g.1496025A>TCA424756823TPOc.2043A>T (p.Ala681=)
c.1524A>T (p.Ala508=)
c.1872A>T (p.Ala624=)
c.1830A>T (p.Ala610=)
c.467A>T
n.424+1986A>T
c.465A>T (p.Ala155=)
n.677+1986A>T
n.2044A>T
c.2079A>T (p.Ala693=)
c.1908A>T (p.Ala636=)
c.1560A>T (p.Ala520=)
gnomAD v4
2g.1496026C>ACA345697743TPOc.2044C>A (p.Gln682Lys)
c.1525C>A (p.Gln509Lys)
c.1873C>A (p.Gln625Lys)
c.1831C>A (p.Gln611Lys)
c.468C>A
n.424+1987C>A
c.466C>A (p.Gln156Lys)
n.677+1987C>A
n.2045C>A
c.2080C>A (p.Gln694Lys)
c.1909C>A (p.Gln637Lys)
c.1561C>A (p.Gln521Lys)
2g.1496026C=CA1233577870TPOc.2044C= (p.Gln682=)
c.1525C= (p.Gln509=)
c.1873C= (p.Gln625=)
c.1831C= (p.Gln611=)
c.468C=
n.424+1987C=
c.466C= (p.Gln156=)
n.677+1987C=
n.2045C=
c.2080C= (p.Gln694=)
c.1909C= (p.Gln637=)
c.1561C= (p.Gln521=)
2g.1496026C>GCA345697746TPOc.2044C>G (p.Gln682Glu)
c.1525C>G (p.Gln509Glu)
c.1873C>G (p.Gln625Glu)
c.1831C>G (p.Gln611Glu)
c.468C>G
n.424+1987C>G
c.466C>G (p.Gln156Glu)
n.677+1987C>G
n.2045C>G
c.2080C>G (p.Gln694Glu)
c.1909C>G (p.Gln637Glu)
c.1561C>G (p.Gln521Glu)
2g.1496026C>TCA345697748TPOc.2044C>T (p.Gln682Ter)
c.1525C>T (p.Gln509Ter)
c.1873C>T (p.Gln625Ter)
c.1831C>T (p.Gln611Ter)
c.468C>T
n.424+1987C>T
c.466C>T (p.Gln156Ter)
n.677+1987C>T
n.2045C>T
c.2080C>T (p.Gln694Ter)
c.1909C>T (p.Gln637Ter)
c.1561C>T (p.Gln521Ter)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.1496027A=CA1233577871TPOc.2045A= (p.Gln682=)
c.1526A= (p.Gln509=)
c.1874A= (p.Gln625=)
c.1832A= (p.Gln611=)
c.469A=
n.424+1988A=
c.467A= (p.Gln156=)
n.677+1988A=
n.2046A=
c.2081A= (p.Gln694=)
c.1910A= (p.Gln637=)
c.1562A= (p.Gln521=)
2g.1496027A>CCA345697751TPOc.2045A>C (p.Gln682Pro)
c.1526A>C (p.Gln509Pro)
c.1874A>C (p.Gln625Pro)
c.1832A>C (p.Gln611Pro)
c.469A>C
n.424+1988A>C
c.467A>C (p.Gln156Pro)
n.677+1988A>C
n.2046A>C
c.2081A>C (p.Gln694Pro)
c.1910A>C (p.Gln637Pro)
c.1562A>C (p.Gln521Pro)
2g.1496027A>GCA41426854TPOc.2045A>G (p.Gln682Arg)
c.1526A>G (p.Gln509Arg)
c.1874A>G (p.Gln625Arg)
c.1832A>G (p.Gln611Arg)
c.469A>G
n.424+1988A>G
c.467A>G (p.Gln156Arg)
n.677+1988A>G
n.2046A>G
c.2081A>G (p.Gln694Arg)
c.1910A>G (p.Gln637Arg)
c.1562A>G (p.Gln521Arg)
dbSNP gnomAD v3 gnomAD v4
2g.1496027A>TCA345697758TPOc.2045A>T (p.Gln682Leu)
c.1526A>T (p.Gln509Leu)
c.1874A>T (p.Gln625Leu)
c.1832A>T (p.Gln611Leu)
c.469A>T
n.424+1988A>T
c.467A>T (p.Gln156Leu)
n.677+1988A>T
n.2046A>T
c.2081A>T (p.Gln694Leu)
c.1910A>T (p.Gln637Leu)
c.1562A>T (p.Gln521Leu)
2g.1496028G>ACA1511945TPOc.2046G>A (p.Gln682=)
c.1527G>A (p.Gln509=)
c.1875G>A (p.Gln625=)
c.1833G>A (p.Gln611=)
c.470G>A
n.424+1989G>A
c.468G>A (p.Gln156=)
n.677+1989G>A
n.2047G>A
c.2082G>A (p.Gln694=)
c.1911G>A (p.Gln637=)
c.1563G>A (p.Gln521=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496028G>CCA345697759TPOc.2046G>C (p.Gln682His)
c.1527G>C (p.Gln509His)
c.1875G>C (p.Gln625His)
c.1833G>C (p.Gln611His)
c.470G>C
n.424+1989G>C
c.468G>C (p.Gln156His)
n.677+1989G>C
n.2047G>C
c.2082G>C (p.Gln694His)
c.1911G>C (p.Gln637His)
c.1563G>C (p.Gln521His)
2g.1496028G=CA1233577872TPOc.2046G= (p.Gln682=)
c.1527G= (p.Gln509=)
c.1875G= (p.Gln625=)
c.1833G= (p.Gln611=)
c.470G=
n.424+1989G=
c.468G= (p.Gln156=)
n.677+1989G=
n.2047G=
c.2082G= (p.Gln694=)
c.1911G= (p.Gln637=)
c.1563G= (p.Gln521=)
2g.1496028G>TCA345697760TPOc.2046G>T (p.Gln682His)
c.1527G>T (p.Gln509His)
c.1875G>T (p.Gln625His)
c.1833G>T (p.Gln611His)
c.470G>T
n.424+1989G>T
c.468G>T (p.Gln156His)
n.677+1989G>T
n.2047G>T
c.2082G>T (p.Gln694His)
c.1911G>T (p.Gln637His)
c.1563G>T (p.Gln521His)
2g.1496029A>CCA424756831TPOc.2047A>C (p.Arg683=)
c.1528A>C (p.Arg510=)
c.1876A>C (p.Arg626=)
c.1834A>C (p.Arg612=)
c.471A>C
n.424+1990A>C
c.469A>C (p.Arg157=)
n.677+1990A>C
n.2048A>C
c.2083A>C (p.Arg695=)
c.1912A>C (p.Arg638=)
c.1564A>C (p.Arg522=)
2g.1496029A>GCA345697761TPOc.2047A>G (p.Arg683Gly)
c.1528A>G (p.Arg510Gly)
c.1876A>G (p.Arg626Gly)
c.1834A>G (p.Arg612Gly)
c.471A>G
n.424+1990A>G
c.469A>G (p.Arg157Gly)
n.677+1990A>G
n.2048A>G
c.2083A>G (p.Arg695Gly)
c.1912A>G (p.Arg638Gly)
c.1564A>G (p.Arg522Gly)
2g.1496029A>TCA345697763TPOc.2047A>T (p.Arg683Trp)
c.1528A>T (p.Arg510Trp)
c.1876A>T (p.Arg626Trp)
c.1834A>T (p.Arg612Trp)
c.471A>T
n.424+1990A>T
c.469A>T (p.Arg157Trp)
n.677+1990A>T
n.2048A>T
c.2083A>T (p.Arg695Trp)
c.1912A>T (p.Arg638Trp)
c.1564A>T (p.Arg522Trp)
2g.1496030G>ACA345697766TPOc.2048G>A (p.Arg683Lys)
c.1529G>A (p.Arg510Lys)
c.1877G>A (p.Arg626Lys)
c.1835G>A (p.Arg612Lys)
c.472G>A
n.424+1991G>A
c.470G>A (p.Arg157Lys)
n.677+1991G>A
n.2049G>A
c.2084G>A (p.Arg695Lys)
c.1913G>A (p.Arg638Lys)
c.1565G>A (p.Arg522Lys)
2g.1496030G>CCA345697767TPOc.2048G>C (p.Arg683Thr)
c.1529G>C (p.Arg510Thr)
c.1877G>C (p.Arg626Thr)
c.1835G>C (p.Arg612Thr)
c.472G>C
n.424+1991G>C
c.470G>C (p.Arg157Thr)
n.677+1991G>C
n.2049G>C
c.2084G>C (p.Arg695Thr)
c.1913G>C (p.Arg638Thr)
c.1565G>C (p.Arg522Thr)
2g.1496030G>TCA345697769TPOc.2048G>T (p.Arg683Met)
c.1529G>T (p.Arg510Met)
c.1877G>T (p.Arg626Met)
c.1835G>T (p.Arg612Met)
c.472G>T
n.424+1991G>T
c.470G>T (p.Arg157Met)
n.677+1991G>T
n.2049G>T
c.2084G>T (p.Arg695Met)
c.1913G>T (p.Arg638Met)
c.1565G>T (p.Arg522Met)
gnomAD v4
2g.1496031G>ACA424756837TPOc.2049G>A (p.Arg683=)
c.1530G>A (p.Arg510=)
c.1878G>A (p.Arg626=)
c.1836G>A (p.Arg612=)
c.473G>A
n.424+1992G>A
c.471G>A (p.Arg157=)
n.677+1992G>A
n.2050G>A
c.2085G>A (p.Arg695=)
c.1914G>A (p.Arg638=)
c.1566G>A (p.Arg522=)
2g.1496031G>CCA345697772TPOc.2049G>C (p.Arg683Ser)
c.1530G>C (p.Arg510Ser)
c.1878G>C (p.Arg626Ser)
c.1836G>C (p.Arg612Ser)
c.473G>C
n.424+1992G>C
c.471G>C (p.Arg157Ser)
n.677+1992G>C
n.2050G>C
c.2085G>C (p.Arg695Ser)
c.1914G>C (p.Arg638Ser)
c.1566G>C (p.Arg522Ser)
gnomAD v4
2g.1496031G>TCA345697773TPOc.2049G>T (p.Arg683Ser)
c.1530G>T (p.Arg510Ser)
c.1878G>T (p.Arg626Ser)
c.1836G>T (p.Arg612Ser)
c.473G>T
n.424+1992G>T
c.471G>T (p.Arg157Ser)
n.677+1992G>T
n.2050G>T
c.2085G>T (p.Arg695Ser)
c.1914G>T (p.Arg638Ser)
c.1566G>T (p.Arg522Ser)
2g.1496032C>ACA345697775TPOc.2050C>A (p.Arg684Ser)
c.1531C>A (p.Arg511Ser)
c.1879C>A (p.Arg627Ser)
c.1837C>A (p.Arg613Ser)
c.474C>A
n.424+1993C>A
c.472C>A (p.Arg158Ser)
n.677+1993C>A
n.2051C>A
c.2086C>A (p.Arg696Ser)
c.1915C>A (p.Arg639Ser)
c.1567C>A (p.Arg523Ser)
2g.1496032C=CA1233577873TPOc.2050C= (p.Arg684=)
c.1531C= (p.Arg511=)
c.1879C= (p.Arg627=)
c.1837C= (p.Arg613=)
c.474C=
n.424+1993C=
c.472C= (p.Arg158=)
n.677+1993C=
n.2051C=
c.2086C= (p.Arg696=)
c.1915C= (p.Arg639=)
c.1567C= (p.Arg523=)
2g.1496032C>GCA345697777TPOc.2050C>G (p.Arg684Gly)
c.1531C>G (p.Arg511Gly)
c.1879C>G (p.Arg627Gly)
c.1837C>G (p.Arg613Gly)
c.474C>G
n.424+1993C>G
c.472C>G (p.Arg158Gly)
n.677+1993C>G
n.2051C>G
c.2086C>G (p.Arg696Gly)
c.1915C>G (p.Arg639Gly)
c.1567C>G (p.Arg523Gly)
2g.1496032C>TCA1511946TPOc.2050C>T (p.Arg684Cys)
c.1531C>T (p.Arg511Cys)
c.1879C>T (p.Arg627Cys)
c.1837C>T (p.Arg613Cys)
c.474C>T
n.424+1993C>T
c.472C>T (p.Arg158Cys)
n.677+1993C>T
n.2051C>T
c.2086C>T (p.Arg696Cys)
c.1915C>T (p.Arg639Cys)
c.1567C>T (p.Arg523Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.1496033G>ACA1511947TPOc.2051G>A (p.Arg684His)
c.1532G>A (p.Arg511His)
c.1880G>A (p.Arg627His)
c.1838G>A (p.Arg613His)
c.475G>A
n.424+1994G>A
c.473G>A (p.Arg158His)
n.677+1994G>A
n.2052G>A
c.2087G>A (p.Arg696His)
c.1916G>A (p.Arg639His)
c.1568G>A (p.Arg523His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496033G>CCA345697781TPOc.2051G>C (p.Arg684Pro)
c.1532G>C (p.Arg511Pro)
c.1880G>C (p.Arg627Pro)
c.1838G>C (p.Arg613Pro)
c.475G>C
n.424+1994G>C
c.473G>C (p.Arg158Pro)
n.677+1994G>C
n.2052G>C
c.2087G>C (p.Arg696Pro)
c.1916G>C (p.Arg639Pro)
c.1568G>C (p.Arg523Pro)
2g.1496033G=CA1233577874TPOc.2051G= (p.Arg684=)
c.1532G= (p.Arg511=)
c.1880G= (p.Arg627=)
c.1838G= (p.Arg613=)
c.475G=
n.424+1994G=
c.473G= (p.Arg158=)
n.677+1994G=
n.2052G=
c.2087G= (p.Arg696=)
c.1916G= (p.Arg639=)
c.1568G= (p.Arg523=)
2g.1496033G>TCA345697783TPOc.2051G>T (p.Arg684Leu)
c.1532G>T (p.Arg511Leu)
c.1880G>T (p.Arg627Leu)
c.1838G>T (p.Arg613Leu)
c.475G>T
n.424+1994G>T
c.473G>T (p.Arg158Leu)
n.677+1994G>T
n.2052G>T
c.2087G>T (p.Arg696Leu)
c.1916G>T (p.Arg639Leu)
c.1568G>T (p.Arg523Leu)
2g.1496034T>ACA424756840TPOc.2052T>A (p.Arg684=)
c.1533T>A (p.Arg511=)
c.1881T>A (p.Arg627=)
c.1839T>A (p.Arg613=)
c.476T>A
n.424+1995T>A
c.474T>A (p.Arg158=)
n.677+1995T>A
n.2053T>A
c.2088T>A (p.Arg696=)
c.1917T>A (p.Arg639=)
c.1569T>A (p.Arg523=)
gnomAD v4
2g.1496034T>CCA41426871TPOc.2052T>C (p.Arg684=)
c.1533T>C (p.Arg511=)
c.1881T>C (p.Arg627=)
c.1839T>C (p.Arg613=)
c.476T>C
n.424+1995T>C
c.474T>C (p.Arg158=)
n.677+1995T>C
n.2053T>C
c.2088T>C (p.Arg696=)
c.1917T>C (p.Arg639=)
c.1569T>C (p.Arg523=)
ClinVar dbSNP
2g.1496034T>GCA424756841TPOc.2052T>G (p.Arg684=)
c.1533T>G (p.Arg511=)
c.1881T>G (p.Arg627=)
c.1839T>G (p.Arg613=)
c.476T>G
n.424+1995T>G
c.474T>G (p.Arg158=)
n.677+1995T>G
n.2053T>G
c.2088T>G (p.Arg696=)
c.1917T>G (p.Arg639=)
c.1569T>G (p.Arg523=)
2g.1496034T=CA1233577875TPOc.2052T= (p.Arg684=)
c.1533T= (p.Arg511=)
c.1881T= (p.Arg627=)
c.1839T= (p.Arg613=)
c.476T=
n.424+1995T=
c.474T= (p.Arg158=)
n.677+1995T=
n.2053T=
c.2088T= (p.Arg696=)
c.1917T= (p.Arg639=)
c.1569T= (p.Arg523=)
2g.1496035G>ACA345697787TPOc.2053G>A (p.Glu685Lys)
c.1534G>A (p.Glu512Lys)
c.1882G>A (p.Glu628Lys)
c.1840G>A (p.Glu614Lys)
c.477G>A
n.424+1996G>A
c.475G>A (p.Glu159Lys)
n.677+1996G>A
n.2054G>A
c.2089G>A (p.Glu697Lys)
c.1918G>A (p.Glu640Lys)
c.1570G>A (p.Glu524Lys)
dbSNP gnomAD v4
2g.1496035G>CCA345697794TPOc.2053G>C (p.Glu685Gln)
c.1534G>C (p.Glu512Gln)
c.1882G>C (p.Glu628Gln)
c.1840G>C (p.Glu614Gln)
c.477G>C
n.424+1996G>C
c.475G>C (p.Glu159Gln)
n.677+1996G>C
n.2054G>C
c.2089G>C (p.Glu697Gln)
c.1918G>C (p.Glu640Gln)
c.1570G>C (p.Glu524Gln)
2g.1496035G=CA1233577876TPOc.2053G= (p.Glu685=)
c.1534G= (p.Glu512=)
c.1882G= (p.Glu628=)
c.1840G= (p.Glu614=)
c.477G=
n.424+1996G=
c.475G= (p.Glu159=)
n.677+1996G=
n.2054G=
c.2089G= (p.Glu697=)
c.1918G= (p.Glu640=)
c.1570G= (p.Glu524=)
2g.1496035G>TCA345697785TPOc.2053G>T (p.Glu685Ter)
c.1534G>T (p.Glu512Ter)
c.1882G>T (p.Glu628Ter)
c.1840G>T (p.Glu614Ter)
c.477G>T
n.424+1996G>T
c.475G>T (p.Glu159Ter)
n.677+1996G>T
n.2054G>T
c.2089G>T (p.Glu697Ter)
c.1918G>T (p.Glu640Ter)
c.1570G>T (p.Glu524Ter)
2g.1496036A>CCA345697797TPOc.2054A>C (p.Glu685Ala)
c.1535A>C (p.Glu512Ala)
c.1883A>C (p.Glu628Ala)
c.1841A>C (p.Glu614Ala)
c.478A>C
n.424+1997A>C
c.476A>C (p.Glu159Ala)
n.677+1997A>C
n.2055A>C
c.2090A>C (p.Glu697Ala)
c.1919A>C (p.Glu640Ala)
c.1571A>C (p.Glu524Ala)
gnomAD v4
2g.1496036A>GCA345697799TPOc.2054A>G (p.Glu685Gly)
c.1535A>G (p.Glu512Gly)
c.1883A>G (p.Glu628Gly)
c.1841A>G (p.Glu614Gly)
c.478A>G
n.424+1997A>G
c.476A>G (p.Glu159Gly)
n.677+1997A>G
n.2055A>G
c.2090A>G (p.Glu697Gly)
c.1919A>G (p.Glu640Gly)
c.1571A>G (p.Glu524Gly)
2g.1496036A>TCA345697801TPOc.2054A>T (p.Glu685Val)
c.1535A>T (p.Glu512Val)
c.1883A>T (p.Glu628Val)
c.1841A>T (p.Glu614Val)
c.478A>T
n.424+1997A>T
c.476A>T (p.Glu159Val)
n.677+1997A>T
n.2055A>T
c.2090A>T (p.Glu697Val)
c.1919A>T (p.Glu640Val)
c.1571A>T (p.Glu524Val)
2g.1496037G>ACA424756845TPOc.2055G>A (p.Glu685=)
c.1536G>A (p.Glu512=)
c.1884G>A (p.Glu628=)
c.1842G>A (p.Glu614=)
c.479G>A
n.424+1998G>A
c.477G>A (p.Glu159=)
n.677+1998G>A
n.2056G>A
c.2091G>A (p.Glu697=)
c.1920G>A (p.Glu640=)
c.1572G>A (p.Glu524=)
2g.1496037G>CCA345697803TPOc.2055G>C (p.Glu685Asp)
c.1536G>C (p.Glu512Asp)
c.1884G>C (p.Glu628Asp)
c.1842G>C (p.Glu614Asp)
c.479G>C
n.424+1998G>C
c.477G>C (p.Glu159Asp)
n.677+1998G>C
n.2056G>C
c.2091G>C (p.Glu697Asp)
c.1920G>C (p.Glu640Asp)
c.1572G>C (p.Glu524Asp)
2g.1496037G>TCA345697807TPOc.2055G>T (p.Glu685Asp)
c.1536G>T (p.Glu512Asp)
c.1884G>T (p.Glu628Asp)
c.1842G>T (p.Glu614Asp)
c.479G>T
n.424+1998G>T
c.477G>T (p.Glu159Asp)
n.677+1998G>T
n.2056G>T
c.2091G>T (p.Glu697Asp)
c.1920G>T (p.Glu640Asp)
c.1572G>T (p.Glu524Asp)
2g.1496038C>ACA345697810TPOc.2056C>A (p.Leu686Met)
c.1537C>A (p.Leu513Met)
c.1885C>A (p.Leu629Met)
c.1843C>A (p.Leu615Met)
c.480C>A
n.424+1999C>A
c.478C>A (p.Leu160Met)
n.677+1999C>A
n.2057C>A
c.2092C>A (p.Leu698Met)
c.1921C>A (p.Leu641Met)
c.1573C>A (p.Leu525Met)
2g.1496038C>GCA345697812TPOc.2056C>G (p.Leu686Val)
c.1537C>G (p.Leu513Val)
c.1885C>G (p.Leu629Val)
c.1843C>G (p.Leu615Val)
c.480C>G
n.424+1999C>G
c.478C>G (p.Leu160Val)
n.677+1999C>G
n.2057C>G
c.2092C>G (p.Leu698Val)
c.1921C>G (p.Leu641Val)
c.1573C>G (p.Leu525Val)
2g.1496038C>TCA424756847TPOc.2056C>T (p.Leu686=)
c.1537C>T (p.Leu513=)
c.1885C>T (p.Leu629=)
c.1843C>T (p.Leu615=)
c.480C>T
n.424+1999C>T
c.478C>T (p.Leu160=)
n.677+1999C>T
n.2057C>T
c.2092C>T (p.Leu698=)
c.1921C>T (p.Leu641=)
c.1573C>T (p.Leu525=)
2g.1496039T>ACA345697815TPOc.2057T>A (p.Leu686Gln)
c.1538T>A (p.Leu513Gln)
c.1886T>A (p.Leu629Gln)
c.1844T>A (p.Leu615Gln)
c.481T>A
n.424+2000T>A
c.479T>A (p.Leu160Gln)
n.677+2000T>A
n.2058T>A
c.2093T>A (p.Leu698Gln)
c.1922T>A (p.Leu641Gln)
c.1574T>A (p.Leu525Gln)
2g.1496039T>CCA345697817TPOc.2057T>C (p.Leu686Pro)
c.1538T>C (p.Leu513Pro)
c.1886T>C (p.Leu629Pro)
c.1844T>C (p.Leu615Pro)
c.481T>C
n.424+2000T>C
c.479T>C (p.Leu160Pro)
n.677+2000T>C
n.2058T>C
c.2093T>C (p.Leu698Pro)
c.1922T>C (p.Leu641Pro)
c.1574T>C (p.Leu525Pro)
COSMIC
2g.1496039T>GCA345697820TPOc.2057T>G (p.Leu686Arg)
c.1538T>G (p.Leu513Arg)
c.1886T>G (p.Leu629Arg)
c.1844T>G (p.Leu615Arg)
c.481T>G
n.424+2000T>G
c.479T>G (p.Leu160Arg)
n.677+2000T>G
n.2058T>G
c.2093T>G (p.Leu698Arg)
c.1922T>G (p.Leu641Arg)
c.1574T>G (p.Leu525Arg)
2g.1496040G>ACA424756849TPOc.2058G>A (p.Leu686=)
c.1539G>A (p.Leu513=)
c.1887G>A (p.Leu629=)
c.1845G>A (p.Leu615=)
c.482G>A
n.424+2001G>A
c.480G>A (p.Leu160=)
n.677+2001G>A
n.2059G>A
c.2094G>A (p.Leu698=)
c.1923G>A (p.Leu641=)
c.1575G>A (p.Leu525=)
gnomAD v4
2g.1496040G>CCA424756850TPOc.2058G>C (p.Leu686=)
c.1539G>C (p.Leu513=)
c.1887G>C (p.Leu629=)
c.1845G>C (p.Leu615=)
c.482G>C
n.424+2001G>C
c.480G>C (p.Leu160=)
n.677+2001G>C
n.2059G>C
c.2094G>C (p.Leu698=)
c.1923G>C (p.Leu641=)
c.1575G>C (p.Leu525=)
2g.1496040G>TCA424756853TPOc.2058G>T (p.Leu686=)
c.1539G>T (p.Leu513=)
c.1887G>T (p.Leu629=)
c.1845G>T (p.Leu615=)
c.482G>T
n.424+2001G>T
c.480G>T (p.Leu160=)
n.677+2001G>T
n.2059G>T
c.2094G>T (p.Leu698=)
c.1923G>T (p.Leu641=)
c.1575G>T (p.Leu525=)
2g.1496041G>ACA345697823TPOc.2059G>A (p.Glu687Lys)
c.1540G>A (p.Glu514Lys)
c.1888G>A (p.Glu630Lys)
c.1846G>A (p.Glu616Lys)
c.483G>A
n.424+2002G>A
c.481G>A (p.Glu161Lys)
n.677+2002G>A
n.2060G>A
c.2095G>A (p.Glu699Lys)
c.1924G>A (p.Glu642Lys)
c.1576G>A (p.Glu526Lys)
2g.1496041G>CCA345697824TPOc.2059G>C (p.Glu687Gln)
c.1540G>C (p.Glu514Gln)
c.1888G>C (p.Glu630Gln)
c.1846G>C (p.Glu616Gln)
c.483G>C
n.424+2002G>C
c.481G>C (p.Glu161Gln)
n.677+2002G>C
n.2060G>C
c.2095G>C (p.Glu699Gln)
c.1924G>C (p.Glu642Gln)
c.1576G>C (p.Glu526Gln)
COSMIC COSMIC
2g.1496041G>TCA345697826TPOc.2059G>T (p.Glu687Ter)
c.1540G>T (p.Glu514Ter)
c.1888G>T (p.Glu630Ter)
c.1846G>T (p.Glu616Ter)
c.483G>T
n.424+2002G>T
c.481G>T (p.Glu161Ter)
n.677+2002G>T
n.2060G>T
c.2095G>T (p.Glu699Ter)
c.1924G>T (p.Glu642Ter)
c.1576G>T (p.Glu526Ter)
ClinVar gnomAD v4 COSMIC COSMIC
2g.1496042A>CCA345697833TPOc.2060A>C (p.Glu687Ala)
c.1541A>C (p.Glu514Ala)
c.1889A>C (p.Glu630Ala)
c.1847A>C (p.Glu616Ala)
c.484A>C
n.424+2003A>C
c.482A>C (p.Glu161Ala)
n.677+2003A>C
n.2061A>C
c.2096A>C (p.Glu699Ala)
c.1925A>C (p.Glu642Ala)
c.1577A>C (p.Glu526Ala)
2g.1496042A>GCA345697831TPOc.2060A>G (p.Glu687Gly)
c.1541A>G (p.Glu514Gly)
c.1889A>G (p.Glu630Gly)
c.1847A>G (p.Glu616Gly)
c.484A>G
n.424+2003A>G
c.482A>G (p.Glu161Gly)
n.677+2003A>G
n.2061A>G
c.2096A>G (p.Glu699Gly)
c.1925A>G (p.Glu642Gly)
c.1577A>G (p.Glu526Gly)
2g.1496042A>TCA345697829TPOc.2060A>T (p.Glu687Val)
c.1541A>T (p.Glu514Val)
c.1889A>T (p.Glu630Val)
c.1847A>T (p.Glu616Val)
c.484A>T
n.424+2003A>T
c.482A>T (p.Glu161Val)
n.677+2003A>T
n.2061A>T
c.2096A>T (p.Glu699Val)
c.1925A>T (p.Glu642Val)
c.1577A>T (p.Glu526Val)
2g.1496043G>ACA424756856TPOc.2061G>A (p.Glu687=)
c.1542G>A (p.Glu514=)
c.1890G>A (p.Glu630=)
c.1848G>A (p.Glu616=)
c.485G>A
n.424+2004G>A
c.483G>A (p.Glu161=)
n.677+2004G>A
n.2062G>A
c.2097G>A (p.Glu699=)
c.1926G>A (p.Glu642=)
c.1578G>A (p.Glu526=)
gnomAD v4
2g.1496043G>CCA345697835TPOc.2061G>C (p.Glu687Asp)
c.1542G>C (p.Glu514Asp)
c.1890G>C (p.Glu630Asp)
c.1848G>C (p.Glu616Asp)
c.485G>C
n.424+2004G>C
c.483G>C (p.Glu161Asp)
n.677+2004G>C
n.2062G>C
c.2097G>C (p.Glu699Asp)
c.1926G>C (p.Glu642Asp)
c.1578G>C (p.Glu526Asp)
2g.1496043G>TCA345697836TPOc.2061G>T (p.Glu687Asp)
c.1542G>T (p.Glu514Asp)
c.1890G>T (p.Glu630Asp)
c.1848G>T (p.Glu616Asp)
c.485G>T
n.424+2004G>T
c.483G>T (p.Glu161Asp)
n.677+2004G>T
n.2062G>T
c.2097G>T (p.Glu699Asp)
c.1926G>T (p.Glu642Asp)
c.1578G>T (p.Glu526Asp)
2g.1496044A>CCA345697839TPOc.2062A>C (p.Lys688Gln)
c.1543A>C (p.Lys515Gln)
c.1891A>C (p.Lys631Gln)
c.1849A>C (p.Lys617Gln)
c.486A>C
n.424+2005A>C
c.484A>C (p.Lys162Gln)
n.677+2005A>C
n.2063A>C
c.2098A>C (p.Lys700Gln)
c.1927A>C (p.Lys643Gln)
c.1579A>C (p.Lys527Gln)
2g.1496044A>GCA345697841TPOc.2062A>G (p.Lys688Glu)
c.1543A>G (p.Lys515Glu)
c.1891A>G (p.Lys631Glu)
c.1849A>G (p.Lys617Glu)
c.486A>G
n.424+2005A>G
c.484A>G (p.Lys162Glu)
n.677+2005A>G
n.2063A>G
c.2098A>G (p.Lys700Glu)
c.1927A>G (p.Lys643Glu)
c.1579A>G (p.Lys527Glu)
2g.1496044A>TCA345697842TPOc.2062A>T (p.Lys688Ter)
c.1543A>T (p.Lys515Ter)
c.1891A>T (p.Lys631Ter)
c.1849A>T (p.Lys617Ter)
c.486A>T
n.424+2005A>T
c.484A>T (p.Lys162Ter)
n.677+2005A>T
n.2063A>T
c.2098A>T (p.Lys700Ter)
c.1927A>T (p.Lys643Ter)
c.1579A>T (p.Lys527Ter)
2g.1496045A>CCA345697843TPOc.2063A>C (p.Lys688Thr)
c.1544A>C (p.Lys515Thr)
c.1892A>C (p.Lys631Thr)
c.1850A>C (p.Lys617Thr)
c.487A>C
n.424+2006A>C
c.485A>C (p.Lys162Thr)
n.677+2006A>C
n.2064A>C
c.2099A>C (p.Lys700Thr)
c.1928A>C (p.Lys643Thr)
c.1580A>C (p.Lys527Thr)
2g.1496045A>GCA345697844TPOc.2063A>G (p.Lys688Arg)
c.1544A>G (p.Lys515Arg)
c.1892A>G (p.Lys631Arg)
c.1850A>G (p.Lys617Arg)
c.487A>G
n.424+2006A>G
c.485A>G (p.Lys162Arg)
n.677+2006A>G
n.2064A>G
c.2099A>G (p.Lys700Arg)
c.1928A>G (p.Lys643Arg)
c.1580A>G (p.Lys527Arg)
2g.1496045A>TCA345697846TPOc.2063A>T (p.Lys688Met)
c.1544A>T (p.Lys515Met)
c.1892A>T (p.Lys631Met)
c.1850A>T (p.Lys617Met)
c.487A>T
n.424+2006A>T
c.485A>T (p.Lys162Met)
n.677+2006A>T
n.2064A>T
c.2099A>T (p.Lys700Met)
c.1928A>T (p.Lys643Met)
c.1580A>T (p.Lys527Met)
2g.1496046G>ACA424756861TPOc.2064G>A (p.Lys688=)
c.1545G>A (p.Lys515=)
c.1893G>A (p.Lys631=)
c.1851G>A (p.Lys617=)
c.488G>A
n.424+2007G>A
c.486G>A (p.Lys162=)
n.677+2007G>A
n.2065G>A
c.2100G>A (p.Lys700=)
c.1929G>A (p.Lys643=)
c.1581G>A (p.Lys527=)
2g.1496046G>CCA345697848TPOc.2064G>C (p.Lys688Asn)
c.1545G>C (p.Lys515Asn)
c.1893G>C (p.Lys631Asn)
c.1851G>C (p.Lys617Asn)
c.488G>C
n.424+2007G>C
c.486G>C (p.Lys162Asn)
n.677+2007G>C
n.2065G>C
c.2100G>C (p.Lys700Asn)
c.1929G>C (p.Lys643Asn)
c.1581G>C (p.Lys527Asn)
gnomAD v4
2g.1496046G>TCA345697849TPOc.2064G>T (p.Lys688Asn)
c.1545G>T (p.Lys515Asn)
c.1893G>T (p.Lys631Asn)
c.1851G>T (p.Lys617Asn)
c.488G>T
n.424+2007G>T
c.486G>T (p.Lys162Asn)
n.677+2007G>T
n.2065G>T
c.2100G>T (p.Lys700Asn)
c.1929G>T (p.Lys643Asn)
c.1581G>T (p.Lys527Asn)
2g.1496047C>ACA345697850TPOc.2065C>A (p.His689Asn)
c.1546C>A (p.His516Asn)
c.1894C>A (p.His632Asn)
c.1852C>A (p.His618Asn)
c.489C>A
n.424+2008C>A
c.487C>A (p.His163Asn)
n.677+2008C>A
n.2066C>A
c.2101C>A (p.His701Asn)
c.1930C>A (p.His644Asn)
c.1582C>A (p.His528Asn)
2g.1496047C>GCA345697851TPOc.2065C>G (p.His689Asp)
c.1546C>G (p.His516Asp)
c.1894C>G (p.His632Asp)
c.1852C>G (p.His618Asp)
c.489C>G
n.424+2008C>G
c.487C>G (p.His163Asp)
n.677+2008C>G
n.2066C>G
c.2101C>G (p.His701Asp)
c.1930C>G (p.His644Asp)
c.1582C>G (p.His528Asp)
2g.1496047C>TCA345697852TPOc.2065C>T (p.His689Tyr)
c.1546C>T (p.His516Tyr)
c.1894C>T (p.His632Tyr)
c.1852C>T (p.His618Tyr)
c.489C>T
n.424+2008C>T
c.487C>T (p.His163Tyr)
n.677+2008C>T
n.2066C>T
c.2101C>T (p.His701Tyr)
c.1930C>T (p.His644Tyr)
c.1582C>T (p.His528Tyr)
2g.1496048A=CA1233577877TPOc.2066A= (p.His689=)
c.1547A= (p.His516=)
c.1895A= (p.His632=)
c.1853A= (p.His618=)
c.490A=
n.424+2009A=
c.488A= (p.His163=)
n.677+2009A=
n.2067A=
c.2102A= (p.His701=)
c.1931A= (p.His644=)
c.1583A= (p.His528=)
2g.1496048A>CCA345697855TPOc.2066A>C (p.His689Pro)
c.1547A>C (p.His516Pro)
c.1895A>C (p.His632Pro)
c.1853A>C (p.His618Pro)
c.490A>C
n.424+2009A>C
c.488A>C (p.His163Pro)
n.677+2009A>C
n.2067A>C
c.2102A>C (p.His701Pro)
c.1931A>C (p.His644Pro)
c.1583A>C (p.His528Pro)
dbSNP
2g.1496048A>GCA345697860TPOc.2066A>G (p.His689Arg)
c.1547A>G (p.His516Arg)
c.1895A>G (p.His632Arg)
c.1853A>G (p.His618Arg)
c.490A>G
n.424+2009A>G
c.488A>G (p.His163Arg)
n.677+2009A>G
n.2067A>G
c.2102A>G (p.His701Arg)
c.1931A>G (p.His644Arg)
c.1583A>G (p.His528Arg)
2g.1496048A>TCA345697858TPOc.2066A>T (p.His689Leu)
c.1547A>T (p.His516Leu)
c.1895A>T (p.His632Leu)
c.1853A>T (p.His618Leu)
c.490A>T
n.424+2009A>T
c.488A>T (p.His163Leu)
n.677+2009A>T
n.2067A>T
c.2102A>T (p.His701Leu)
c.1931A>T (p.His644Leu)
c.1583A>T (p.His528Leu)
2g.1496049C>ACA345697862TPOc.2067C>A (p.His689Gln)
c.1548C>A (p.His516Gln)
c.1896C>A (p.His632Gln)
c.1854C>A (p.His618Gln)
c.491C>A
n.424+2010C>A
c.489C>A (p.His163Gln)
n.677+2010C>A
n.2068C>A
c.2103C>A (p.His701Gln)
c.1932C>A (p.His644Gln)
c.1584C>A (p.His528Gln)
2g.1496049C>GCA345697863TPOc.2067C>G (p.His689Gln)
c.1548C>G (p.His516Gln)
c.1896C>G (p.His632Gln)
c.1854C>G (p.His618Gln)
c.491C>G
n.424+2010C>G
c.489C>G (p.His163Gln)
n.677+2010C>G
n.2068C>G
c.2103C>G (p.His701Gln)
c.1932C>G (p.His644Gln)
c.1584C>G (p.His528Gln)
2g.1496049C>TCA424756870TPOc.2067C>T (p.His689=)
c.1548C>T (p.His516=)
c.1896C>T (p.His632=)
c.1854C>T (p.His618=)
c.491C>T
n.424+2010C>T
c.489C>T (p.His163=)
n.677+2010C>T
n.2068C>T
c.2103C>T (p.His701=)
c.1932C>T (p.His644=)
c.1584C>T (p.His528=)
2g.1496050T>ACA345697865TPOc.2068T>A (p.Ser690Thr)
c.1549T>A (p.Ser517Thr)
c.1897T>A (p.Ser633Thr)
c.1855T>A (p.Ser619Thr)
c.492T>A
n.424+2011T>A
c.490T>A (p.Ser164Thr)
n.677+2011T>A
n.2069T>A
c.2104T>A (p.Ser702Thr)
c.1933T>A (p.Ser645Thr)
c.1585T>A (p.Ser529Thr)
2g.1496050T>CCA345697867TPOc.2068T>C (p.Ser690Pro)
c.1549T>C (p.Ser517Pro)
c.1897T>C (p.Ser633Pro)
c.1855T>C (p.Ser619Pro)
c.492T>C
n.424+2011T>C
c.490T>C (p.Ser164Pro)
n.677+2011T>C
n.2069T>C
c.2104T>C (p.Ser702Pro)
c.1933T>C (p.Ser645Pro)
c.1585T>C (p.Ser529Pro)
2g.1496050T>GCA345697869TPOc.2068T>G (p.Ser690Ala)
c.1549T>G (p.Ser517Ala)
c.1897T>G (p.Ser633Ala)
c.1855T>G (p.Ser619Ala)
c.492T>G
n.424+2011T>G
c.490T>G (p.Ser164Ala)
n.677+2011T>G
n.2069T>G
c.2104T>G (p.Ser702Ala)
c.1933T>G (p.Ser645Ala)
c.1585T>G (p.Ser529Ala)
2g.1496051C>ACA345697871TPOc.2069C>A (p.Ser690Tyr)
c.1550C>A (p.Ser517Tyr)
c.1898C>A (p.Ser633Tyr)
c.1856C>A (p.Ser619Tyr)
c.493C>A
n.424+2012C>A
c.491C>A (p.Ser164Tyr)
n.677+2012C>A
n.2070C>A
c.2105C>A (p.Ser702Tyr)
c.1934C>A (p.Ser645Tyr)
c.1586C>A (p.Ser529Tyr)
2g.1496051C>GCA345697873TPOc.2069C>G (p.Ser690Cys)
c.1550C>G (p.Ser517Cys)
c.1898C>G (p.Ser633Cys)
c.1856C>G (p.Ser619Cys)
c.493C>G
n.424+2012C>G
c.491C>G (p.Ser164Cys)
n.677+2012C>G
n.2070C>G
c.2105C>G (p.Ser702Cys)
c.1934C>G (p.Ser645Cys)
c.1586C>G (p.Ser529Cys)
2g.1496051C>TCA345697874TPOc.2069C>T (p.Ser690Phe)
c.1550C>T (p.Ser517Phe)
c.1898C>T (p.Ser633Phe)
c.1856C>T (p.Ser619Phe)
c.493C>T
n.424+2012C>T
c.491C>T (p.Ser164Phe)
n.677+2012C>T
n.2070C>T
c.2105C>T (p.Ser702Phe)
c.1934C>T (p.Ser645Phe)
c.1586C>T (p.Ser529Phe)
COSMIC
2g.1496052C>ACA424756876TPOc.2070C>A (p.Ser690=)
c.1551C>A (p.Ser517=)
c.1899C>A (p.Ser633=)
c.1857C>A (p.Ser619=)
c.494C>A
n.424+2013C>A
c.492C>A (p.Ser164=)
n.677+2013C>A
n.2071C>A
c.2106C>A (p.Ser702=)
c.1935C>A (p.Ser645=)
c.1587C>A (p.Ser529=)
COSMIC COSMIC
2g.1496052C>GCA424756878TPOc.2070C>G (p.Ser690=)
c.1551C>G (p.Ser517=)
c.1899C>G (p.Ser633=)
c.1857C>G (p.Ser619=)
c.494C>G
n.424+2013C>G
c.492C>G (p.Ser164=)
n.677+2013C>G
n.2071C>G
c.2106C>G (p.Ser702=)
c.1935C>G (p.Ser645=)
c.1587C>G (p.Ser529=)
2g.1496052C>TCA424756880TPOc.2070C>T (p.Ser690=)
c.1551C>T (p.Ser517=)
c.1899C>T (p.Ser633=)
c.1857C>T (p.Ser619=)
c.494C>T
n.424+2013C>T
c.492C>T (p.Ser164=)
n.677+2013C>T
n.2071C>T
c.2106C>T (p.Ser702=)
c.1935C>T (p.Ser645=)
c.1587C>T (p.Ser529=)
gnomAD v4
2g.1496052_1496054delinsCCTCA1233577878TPOc.2070_2072delinsCCT (p.Ser690=)
c.1551_1553delinsCCT (p.Ser517=)
c.1899_1901delinsCCT (p.Ser633=)
c.1857_1859delinsCCT (p.Ser619=)
c.494_496delinsCCT
n.424+2013_424+2015delinsCCT
c.492_494delinsCCT (p.Ser164=)
n.677+2013_677+2015delinsCCT
n.2071_2073delinsCCT
c.2106_2108delinsCCT (p.Ser702=)
c.1935_1937delinsCCT (p.Ser645=)
c.1587_1589delinsCCT (p.Ser529=)
2g.1496053C>ACA345697879TPOc.2071C>A (p.Leu691Met)
c.1552C>A (p.Leu518Met)
c.1900C>A (p.Leu634Met)
c.1858C>A (p.Leu620Met)
c.495C>A
n.424+2014C>A
c.493C>A (p.Leu165Met)
n.677+2014C>A
n.2072C>A
c.2107C>A (p.Leu703Met)
c.1936C>A (p.Leu646Met)
c.1588C>A (p.Leu530Met)
COSMIC COSMIC
2g.1496053C=CA1233577880TPOc.2071C= (p.Leu691=)
c.1552C= (p.Leu518=)
c.1900C= (p.Leu634=)
c.1858C= (p.Leu620=)
c.495C=
n.424+2014C=
c.493C= (p.Leu165=)
n.677+2014C=
n.2072C=
c.2107C= (p.Leu703=)
c.1936C= (p.Leu646=)
c.1588C= (p.Leu530=)
2g.1496053C>GCA1511948TPOc.2071C>G (p.Leu691Val)
c.1552C>G (p.Leu518Val)
c.1900C>G (p.Leu634Val)
c.1858C>G (p.Leu620Val)
c.495C>G
n.424+2014C>G
c.493C>G (p.Leu165Val)
n.677+2014C>G
n.2072C>G
c.2107C>G (p.Leu703Val)
c.1936C>G (p.Leu646Val)
c.1588C>G (p.Leu530Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496053C>TCA1511949TPOc.2071C>T (p.Leu691=)
c.1552C>T (p.Leu518=)
c.1900C>T (p.Leu634=)
c.1858C>T (p.Leu620=)
c.495C>T
n.424+2014C>T
c.493C>T (p.Leu165=)
n.677+2014C>T
n.2072C>T
c.2107C>T (p.Leu703=)
c.1936C>T (p.Leu646=)
c.1588C>T (p.Leu530=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.1496053_1496054delCA1233577879TPOc.2071_2072del (p.Leu691ValfsTer6)
c.1552_1553del (p.Leu518ValfsTer6)
c.1900_1901del (p.Leu634ValfsTer6)
c.1858_1859del (p.Leu620ValfsTer6)
c.495_496del
n.424+2014_424+2015del
c.493_494del (p.Leu165ValfsTer6)
n.677+2014_677+2015del
n.2072_2073del
c.2107_2108del (p.Leu703ValfsTer6)
c.1936_1937del (p.Leu646ValfsTer6)
c.1588_1589del (p.Leu530ValfsTer6)
dbSNP gnomAD v4
2g.1496054T>ACA345697881TPOc.2072T>A (p.Leu691Gln)
c.1553T>A (p.Leu518Gln)
c.1901T>A (p.Leu634Gln)
c.1859T>A (p.Leu620Gln)
c.496T>A
n.424+2015T>A
c.494T>A (p.Leu165Gln)
n.677+2015T>A
n.2073T>A
c.2108T>A (p.Leu703Gln)
c.1937T>A (p.Leu646Gln)
c.1589T>A (p.Leu530Gln)
gnomAD v4
2g.1496054T>CCA345697882TPOc.2072T>C (p.Leu691Pro)
c.1553T>C (p.Leu518Pro)
c.1901T>C (p.Leu634Pro)
c.1859T>C (p.Leu620Pro)
c.496T>C
n.424+2015T>C
c.494T>C (p.Leu165Pro)
n.677+2015T>C
n.2073T>C
c.2108T>C (p.Leu703Pro)
c.1937T>C (p.Leu646Pro)
c.1589T>C (p.Leu530Pro)
COSMIC COSMIC
2g.1496054T>GCA345697883TPOc.2072T>G (p.Leu691Arg)
c.1553T>G (p.Leu518Arg)
c.1901T>G (p.Leu634Arg)
c.1859T>G (p.Leu620Arg)
c.496T>G
n.424+2015T>G
c.494T>G (p.Leu165Arg)
n.677+2015T>G
n.2073T>G
c.2108T>G (p.Leu703Arg)
c.1937T>G (p.Leu646Arg)
c.1589T>G (p.Leu530Arg)
2g.1496055G>ACA424756885TPOc.2073G>A (p.Leu691=)
c.1554G>A (p.Leu518=)
c.1902G>A (p.Leu634=)
c.1860G>A (p.Leu620=)
c.497G>A
n.424+2016G>A
c.495G>A (p.Leu165=)
n.677+2016G>A
n.2074G>A
c.2109G>A (p.Leu703=)
c.1938G>A (p.Leu646=)
c.1590G>A (p.Leu530=)
gnomAD v4
2g.1496055G>CCA424756886TPOc.2073G>C (p.Leu691=)
c.1554G>C (p.Leu518=)
c.1902G>C (p.Leu634=)
c.1860G>C (p.Leu620=)
c.497G>C
n.424+2016G>C
c.495G>C (p.Leu165=)
n.677+2016G>C
n.2074G>C
c.2109G>C (p.Leu703=)
c.1938G>C (p.Leu646=)
c.1590G>C (p.Leu530=)
2g.1496055G>TCA424756889TPOc.2073G>T (p.Leu691=)
c.1554G>T (p.Leu518=)
c.1902G>T (p.Leu634=)
c.1860G>T (p.Leu620=)
c.497G>T
n.424+2016G>T
c.495G>T (p.Leu165=)
n.677+2016G>T
n.2074G>T
c.2109G>T (p.Leu703=)
c.1938G>T (p.Leu646=)
c.1590G>T (p.Leu530=)
2g.1496056T>ACA345697884TPOc.2074T>A (p.Ser692Thr)
c.1555T>A (p.Ser519Thr)
c.1903T>A (p.Ser635Thr)
c.1861T>A (p.Ser621Thr)
c.498T>A
n.424+2017T>A
c.496T>A (p.Ser166Thr)
n.677+2017T>A
n.2075T>A
c.2110T>A (p.Ser704Thr)
c.1939T>A (p.Ser647Thr)
c.1591T>A (p.Ser531Thr)
2g.1496056T>CCA345697886TPOc.2074T>C (p.Ser692Pro)
c.1555T>C (p.Ser519Pro)
c.1903T>C (p.Ser635Pro)
c.1861T>C (p.Ser621Pro)
c.498T>C
n.424+2017T>C
c.496T>C (p.Ser166Pro)
n.677+2017T>C
n.2075T>C
c.2110T>C (p.Ser704Pro)
c.1939T>C (p.Ser647Pro)
c.1591T>C (p.Ser531Pro)
2g.1496056T>GCA345697887TPOc.2074T>G (p.Ser692Ala)
c.1555T>G (p.Ser519Ala)
c.1903T>G (p.Ser635Ala)
c.1861T>G (p.Ser621Ala)
c.498T>G
n.424+2017T>G
c.496T>G (p.Ser166Ala)
n.677+2017T>G
n.2075T>G
c.2110T>G (p.Ser704Ala)
c.1939T>G (p.Ser647Ala)
c.1591T>G (p.Ser531Ala)
2g.1496057C>ACA345697889TPOc.2075C>A (p.Ser692Tyr)
c.1556C>A (p.Ser519Tyr)
c.1904C>A (p.Ser635Tyr)
c.1862C>A (p.Ser621Tyr)
c.499C>A
n.424+2018C>A
c.497C>A (p.Ser166Tyr)
n.677+2018C>A
n.2076C>A
c.2111C>A (p.Ser704Tyr)
c.1940C>A (p.Ser647Tyr)
c.1592C>A (p.Ser531Tyr)
2g.1496057C>GCA345697893TPOc.2075C>G (p.Ser692Cys)
c.1556C>G (p.Ser519Cys)
c.1904C>G (p.Ser635Cys)
c.1862C>G (p.Ser621Cys)
c.499C>G
n.424+2018C>G
c.497C>G (p.Ser166Cys)
n.677+2018C>G
n.2076C>G
c.2111C>G (p.Ser704Cys)
c.1940C>G (p.Ser647Cys)
c.1592C>G (p.Ser531Cys)
2g.1496057C>TCA345697891TPOc.2075C>T (p.Ser692Phe)
c.1556C>T (p.Ser519Phe)
c.1904C>T (p.Ser635Phe)
c.1862C>T (p.Ser621Phe)
c.499C>T
n.424+2018C>T
c.497C>T (p.Ser166Phe)
n.677+2018C>T
n.2076C>T
c.2111C>T (p.Ser704Phe)
c.1940C>T (p.Ser647Phe)
c.1592C>T (p.Ser531Phe)
2g.1496058T>ACA424756893TPOc.2076T>A (p.Ser692=)
c.1557T>A (p.Ser519=)
c.1905T>A (p.Ser635=)
c.1863T>A (p.Ser621=)
c.500T>A
n.424+2019T>A
c.498T>A (p.Ser166=)
n.677+2019T>A
n.2077T>A
c.2112T>A (p.Ser704=)
c.1941T>A (p.Ser647=)
c.1593T>A (p.Ser531=)
2g.1496058T>CCA424756894TPOc.2076T>C (p.Ser692=)
c.1557T>C (p.Ser519=)
c.1905T>C (p.Ser635=)
c.1863T>C (p.Ser621=)
c.500T>C
n.424+2019T>C
c.498T>C (p.Ser166=)
n.677+2019T>C
n.2077T>C
c.2112T>C (p.Ser704=)
c.1941T>C (p.Ser647=)
c.1593T>C (p.Ser531=)
2g.1496058T>GCA424756895TPOc.2076T>G (p.Ser692=)
c.1557T>G (p.Ser519=)
c.1905T>G (p.Ser635=)
c.1863T>G (p.Ser621=)
c.500T>G
n.424+2019T>G
c.498T>G (p.Ser166=)
n.677+2019T>G
n.2077T>G
c.2112T>G (p.Ser704=)
c.1941T>G (p.Ser647=)
c.1593T>G (p.Ser531=)
2g.1496059C>ACA424756896TPOc.2077C>A (p.Arg693=)
c.1558C>A (p.Arg520=)
c.1906C>A (p.Arg636=)
c.1864C>A (p.Arg622=)
c.501C>A
n.424+2020C>A
c.499C>A (p.Arg167=)
n.677+2020C>A
n.2078C>A
c.2113C>A (p.Arg705=)
c.1942C>A (p.Arg648=)
c.1594C>A (p.Arg532=)
COSMIC
2g.1496059C=CA1233577881TPOc.2077C= (p.Arg693=)
c.1558C= (p.Arg520=)
c.1906C= (p.Arg636=)
c.1864C= (p.Arg622=)
c.501C=
n.424+2020C=
c.499C= (p.Arg167=)
n.677+2020C=
n.2078C=
c.2113C= (p.Arg705=)
c.1942C= (p.Arg648=)
c.1594C= (p.Arg532=)
2g.1496059C>GCA345697895TPOc.2077C>G (p.Arg693Gly)
c.1558C>G (p.Arg520Gly)
c.1906C>G (p.Arg636Gly)
c.1864C>G (p.Arg622Gly)
c.501C>G
n.424+2020C>G
c.499C>G (p.Arg167Gly)
n.677+2020C>G
n.2078C>G
c.2113C>G (p.Arg705Gly)
c.1942C>G (p.Arg648Gly)
c.1594C>G (p.Arg532Gly)
2g.1496059C>TCA116634TPOc.2077C>T (p.Arg693Trp)
c.1558C>T (p.Arg520Trp)
c.1906C>T (p.Arg636Trp)
c.1864C>T (p.Arg622Trp)
c.501C>T
n.424+2020C>T
c.499C>T (p.Arg167Trp)
n.677+2020C>T
n.2078C>T
c.2113C>T (p.Arg705Trp)
c.1942C>T (p.Arg648Trp)
c.1594C>T (p.Arg532Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496060G>ACA1511950TPOc.2078G>A (p.Arg693Gln)
c.1559G>A (p.Arg520Gln)
c.1907G>A (p.Arg636Gln)
c.1865G>A (p.Arg622Gln)
c.502G>A
n.424+2021G>A
c.500G>A (p.Arg167Gln)
n.677+2021G>A
n.2079G>A
c.2114G>A (p.Arg705Gln)
c.1943G>A (p.Arg648Gln)
c.1595G>A (p.Arg532Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496060G>CCA345697902TPOc.2078G>C (p.Arg693Pro)
c.1559G>C (p.Arg520Pro)
c.1907G>C (p.Arg636Pro)
c.1865G>C (p.Arg622Pro)
c.502G>C
n.424+2021G>C
c.500G>C (p.Arg167Pro)
n.677+2021G>C
n.2079G>C
c.2114G>C (p.Arg705Pro)
c.1943G>C (p.Arg648Pro)
c.1595G>C (p.Arg532Pro)
ClinVar gnomAD v4
2g.1496060G=CA1233577882TPOc.2078G= (p.Arg693=)
c.1559G= (p.Arg520=)
c.1907G= (p.Arg636=)
c.1865G= (p.Arg622=)
c.502G=
n.424+2021G=
c.500G= (p.Arg167=)
n.677+2021G=
n.2079G=
c.2114G= (p.Arg705=)
c.1943G= (p.Arg648=)
c.1595G= (p.Arg532=)
2g.1496060G>TCA345697904TPOc.2078G>T (p.Arg693Leu)
c.1559G>T (p.Arg520Leu)
c.1907G>T (p.Arg636Leu)
c.1865G>T (p.Arg622Leu)
c.502G>T
n.424+2021G>T
c.500G>T (p.Arg167Leu)
n.677+2021G>T
n.2079G>T
c.2114G>T (p.Arg705Leu)
c.1943G>T (p.Arg648Leu)
c.1595G>T (p.Arg532Leu)
dbSNP gnomAD v3 gnomAD v4
2g.1496061G>ACA424756908TPOc.2079G>A (p.Arg693=)
c.1560G>A (p.Arg520=)
c.1908G>A (p.Arg636=)
c.1866G>A (p.Arg622=)
c.503G>A
n.424+2022G>A
c.501G>A (p.Arg167=)
n.677+2022G>A
n.2080G>A
c.2115G>A (p.Arg705=)
c.1944G>A (p.Arg648=)
c.1596G>A (p.Arg532=)
gnomAD v4
2g.1496061G>CCA424756903TPOc.2079G>C (p.Arg693=)
c.1560G>C (p.Arg520=)
c.1908G>C (p.Arg636=)
c.1866G>C (p.Arg622=)
c.503G>C
n.424+2022G>C
c.501G>C (p.Arg167=)
n.677+2022G>C
n.2080G>C
c.2115G>C (p.Arg705=)
c.1944G>C (p.Arg648=)
c.1596G>C (p.Arg532=)
2g.1496061G>TCA424756905TPOc.2079G>T (p.Arg693=)
c.1560G>T (p.Arg520=)
c.1908G>T (p.Arg636=)
c.1866G>T (p.Arg622=)
c.503G>T
n.424+2022G>T
c.501G>T (p.Arg167=)
n.677+2022G>T
n.2080G>T
c.2115G>T (p.Arg705=)
c.1944G>T (p.Arg648=)
c.1596G>T (p.Arg532=)
2g.1496062G>ACA345697905TPOc.2080G>A (p.Val694Ile)
c.1561G>A (p.Val521Ile)
c.1909G>A (p.Val637Ile)
c.1867G>A (p.Val623Ile)
c.504G>A
n.424+2023G>A
c.502G>A (p.Val168Ile)
n.677+2023G>A
n.2081G>A
c.2116G>A (p.Val706Ile)
c.1945G>A (p.Val649Ile)
c.1597G>A (p.Val533Ile)
dbSNP gnomAD v2
2g.1496062G>CCA345697907TPOc.2080G>C (p.Val694Leu)
c.1561G>C (p.Val521Leu)
c.1909G>C (p.Val637Leu)
c.1867G>C (p.Val623Leu)
c.504G>C
n.424+2023G>C
c.502G>C (p.Val168Leu)
n.677+2023G>C
n.2081G>C
c.2116G>C (p.Val706Leu)
c.1945G>C (p.Val649Leu)
c.1597G>C (p.Val533Leu)
2g.1496062G=CA1233577883TPOc.2080G= (p.Val694=)
c.1561G= (p.Val521=)
c.1909G= (p.Val637=)
c.1867G= (p.Val623=)
c.504G=
n.424+2023G=
c.502G= (p.Val168=)
n.677+2023G=
n.2081G=
c.2116G= (p.Val706=)
c.1945G= (p.Val649=)
c.1597G= (p.Val533=)
2g.1496062G>TCA345697909TPOc.2080G>T (p.Val694Phe)
c.1561G>T (p.Val521Phe)
c.1909G>T (p.Val637Phe)
c.1867G>T (p.Val623Phe)
c.504G>T
n.424+2023G>T
c.502G>T (p.Val168Phe)
n.677+2023G>T
n.2081G>T
c.2116G>T (p.Val706Phe)
c.1945G>T (p.Val649Phe)
c.1597G>T (p.Val533Phe)
2g.1496063T>ACA345697912TPOc.2081T>A (p.Val694Asp)
c.1562T>A (p.Val521Asp)
c.1910T>A (p.Val637Asp)
c.1868T>A (p.Val623Asp)
c.505T>A
n.424+2024T>A
c.503T>A (p.Val168Asp)
n.677+2024T>A
n.2082T>A
c.2117T>A (p.Val706Asp)
c.1946T>A (p.Val649Asp)
c.1598T>A (p.Val533Asp)
2g.1496063T>CCA345697915TPOc.2081T>C (p.Val694Ala)
c.1562T>C (p.Val521Ala)
c.1910T>C (p.Val637Ala)
c.1868T>C (p.Val623Ala)
c.505T>C
n.424+2024T>C
c.503T>C (p.Val168Ala)
n.677+2024T>C
n.2082T>C
c.2117T>C (p.Val706Ala)
c.1946T>C (p.Val649Ala)
c.1598T>C (p.Val533Ala)
2g.1496063T>GCA345697918TPOc.2081T>G (p.Val694Gly)
c.1562T>G (p.Val521Gly)
c.1910T>G (p.Val637Gly)
c.1868T>G (p.Val623Gly)
c.505T>G
n.424+2024T>G
c.503T>G (p.Val168Gly)
n.677+2024T>G
n.2082T>G
c.2117T>G (p.Val706Gly)
c.1946T>G (p.Val649Gly)
c.1598T>G (p.Val533Gly)
2g.1496064C>ACA424756913TPOc.2082C>A (p.Val694=)
c.1563C>A (p.Val521=)
c.1911C>A (p.Val637=)
c.1869C>A (p.Val623=)
c.506C>A
n.424+2025C>A
c.504C>A (p.Val168=)
n.677+2025C>A
n.2083C>A
c.2118C>A (p.Val706=)
c.1947C>A (p.Val649=)
c.1599C>A (p.Val533=)
2g.1496064C>GCA424756914TPOc.2082C>G (p.Val694=)
c.1563C>G (p.Val521=)
c.1911C>G (p.Val637=)
c.1869C>G (p.Val623=)
c.506C>G
n.424+2025C>G
c.504C>G (p.Val168=)
n.677+2025C>G
n.2083C>G
c.2118C>G (p.Val706=)
c.1947C>G (p.Val649=)
c.1599C>G (p.Val533=)
2g.1496064C>TCA424756915TPOc.2082C>T (p.Val694=)
c.1563C>T (p.Val521=)
c.1911C>T (p.Val637=)
c.1869C>T (p.Val623=)
c.506C>T
n.424+2025C>T
c.504C>T (p.Val168=)
n.677+2025C>T
n.2083C>T
c.2118C>T (p.Val706=)
c.1947C>T (p.Val649=)
c.1599C>T (p.Val533=)
2g.1496065A>CCA345697921TPOc.2083A>C (p.Ile695Leu)
c.1564A>C (p.Ile522Leu)
c.1912A>C (p.Ile638Leu)
c.1870A>C (p.Ile624Leu)
c.507A>C
n.424+2026A>C
c.505A>C (p.Ile169Leu)
n.677+2026A>C
n.2084A>C
c.2119A>C (p.Ile707Leu)
c.1948A>C (p.Ile650Leu)
c.1600A>C (p.Ile534Leu)
2g.1496065A>GCA345697925TPOc.2083A>G (p.Ile695Val)
c.1564A>G (p.Ile522Val)
c.1912A>G (p.Ile638Val)
c.1870A>G (p.Ile624Val)
c.507A>G
n.424+2026A>G
c.505A>G (p.Ile169Val)
n.677+2026A>G
n.2084A>G
c.2119A>G (p.Ile707Val)
c.1948A>G (p.Ile650Val)
c.1600A>G (p.Ile534Val)
2g.1496065A>TCA345697922TPOc.2083A>T (p.Ile695Phe)
c.1564A>T (p.Ile522Phe)
c.1912A>T (p.Ile638Phe)
c.1870A>T (p.Ile624Phe)
c.507A>T
n.424+2026A>T
c.505A>T (p.Ile169Phe)
n.677+2026A>T
n.2084A>T
c.2119A>T (p.Ile707Phe)
c.1948A>T (p.Ile650Phe)
c.1600A>T (p.Ile534Phe)
2g.1496066T>ACA345697928TPOc.2084T>A (p.Ile695Asn)
c.1565T>A (p.Ile522Asn)
c.1913T>A (p.Ile638Asn)
c.1871T>A (p.Ile624Asn)
c.508T>A
n.424+2027T>A
c.506T>A (p.Ile169Asn)
n.677+2027T>A
n.2085T>A
c.2120T>A (p.Ile707Asn)
c.1949T>A (p.Ile650Asn)
c.1601T>A (p.Ile534Asn)
2g.1496066T>CCA345697930TPOc.2084T>C (p.Ile695Thr)
c.1565T>C (p.Ile522Thr)
c.1913T>C (p.Ile638Thr)
c.1871T>C (p.Ile624Thr)
c.508T>C
n.424+2027T>C
c.506T>C (p.Ile169Thr)
n.677+2027T>C
n.2085T>C
c.2120T>C (p.Ile707Thr)
c.1949T>C (p.Ile650Thr)
c.1601T>C (p.Ile534Thr)
2g.1496066T>GCA345697932TPOc.2084T>G (p.Ile695Ser)
c.1565T>G (p.Ile522Ser)
c.1913T>G (p.Ile638Ser)
c.1871T>G (p.Ile624Ser)
c.508T>G
n.424+2027T>G
c.506T>G (p.Ile169Ser)
n.677+2027T>G
n.2085T>G
c.2120T>G (p.Ile707Ser)
c.1949T>G (p.Ile650Ser)
c.1601T>G (p.Ile534Ser)
2g.1496067C>ACA424756921TPOc.2085C>A (p.Ile695=)
c.1566C>A (p.Ile522=)
c.1914C>A (p.Ile638=)
c.1872C>A (p.Ile624=)
c.509C>A
n.424+2028C>A
c.507C>A (p.Ile169=)
n.677+2028C>A
n.2086C>A
c.2121C>A (p.Ile707=)
c.1950C>A (p.Ile650=)
c.1602C>A (p.Ile534=)
2g.1496067C=CA1233577884TPOc.2085C= (p.Ile695=)
c.1566C= (p.Ile522=)
c.1914C= (p.Ile638=)
c.1872C= (p.Ile624=)
c.509C=
n.424+2028C=
c.507C= (p.Ile169=)
n.677+2028C=
n.2086C=
c.2121C= (p.Ile707=)
c.1950C= (p.Ile650=)
c.1602C= (p.Ile534=)
2g.1496067C>GCA345697934TPOc.2085C>G (p.Ile695Met)
c.1566C>G (p.Ile522Met)
c.1914C>G (p.Ile638Met)
c.1872C>G (p.Ile624Met)
c.509C>G
n.424+2028C>G
c.507C>G (p.Ile169Met)
n.677+2028C>G
n.2086C>G
c.2121C>G (p.Ile707Met)
c.1950C>G (p.Ile650Met)
c.1602C>G (p.Ile534Met)
2g.1496067C>TCA1511951TPOc.2085C>T (p.Ile695=)
c.1566C>T (p.Ile522=)
c.1914C>T (p.Ile638=)
c.1872C>T (p.Ile624=)
c.509C>T
n.424+2028C>T
c.507C>T (p.Ile169=)
n.677+2028C>T
n.2086C>T
c.2121C>T (p.Ile707=)
c.1950C>T (p.Ile650=)
c.1602C>T (p.Ile534=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.1496067_1496069delinsCTGCA1233577885TPOc.2085_2087delinsCTG (p.Ile695=)
c.1566_1568delinsCTG (p.Ile522=)
c.1914_1916delinsCTG (p.Ile638=)
c.1872_1874delinsCTG (p.Ile624=)
c.509_511delinsCTG
n.424+2028_424+2030delinsCTG
c.507_509delinsCTG (p.Ile169=)
n.677+2028_677+2030delinsCTG
n.2086_2088delinsCTG
c.2121_2123delinsCTG (p.Ile707=)
c.1950_1952delinsCTG (p.Ile650=)
c.1602_1604delinsCTG (p.Ile534=)
2g.1496068T>ACA345697937TPOc.2086T>A (p.Cys696Ser)
c.1567T>A (p.Cys523Ser)
c.1915T>A (p.Cys639Ser)
c.1873T>A (p.Cys625Ser)
c.510T>A
n.424+2029T>A
c.508T>A (p.Cys170Ser)
n.677+2029T>A
n.2087T>A
c.2122T>A (p.Cys708Ser)
c.1951T>A (p.Cys651Ser)
c.1603T>A (p.Cys535Ser)
2g.1496068T>CCA345697939TPOc.2086T>C (p.Cys696Arg)
c.1567T>C (p.Cys523Arg)
c.1915T>C (p.Cys639Arg)
c.1873T>C (p.Cys625Arg)
c.510T>C
n.424+2029T>C
c.508T>C (p.Cys170Arg)
n.677+2029T>C
n.2087T>C
c.2122T>C (p.Cys708Arg)
c.1951T>C (p.Cys651Arg)
c.1603T>C (p.Cys535Arg)
2g.1496068T>GCA345697940TPOc.2086T>G (p.Cys696Gly)
c.1567T>G (p.Cys523Gly)
c.1915T>G (p.Cys639Gly)
c.1873T>G (p.Cys625Gly)
c.510T>G
n.424+2029T>G
c.508T>G (p.Cys170Gly)
n.677+2029T>G
n.2087T>G
c.2122T>G (p.Cys708Gly)
c.1951T>G (p.Cys651Gly)
c.1603T>G (p.Cys535Gly)
2g.1496070_1496071delCA1233577886TPOc.2088_2089del (p.Cys696Ter)
c.1569_1570del (p.Cys523Ter)
c.1917_1918del (p.Cys639Ter)
c.1875_1876del (p.Cys625Ter)
c.512_513del
n.424+2031_424+2032del
c.510_511del (p.Cys170Ter)
n.677+2031_677+2032del
n.2089_2090del
c.2124_2125del (p.Cys708Ter)
c.1953_1954del (p.Cys651Ter)
c.1605_1606del (p.Cys535Ter)
dbSNP
2g.1496069G>ACA345697943TPOc.2087G>A (p.Cys696Tyr)
c.1568G>A (p.Cys523Tyr)
c.1916G>A (p.Cys639Tyr)
c.1874G>A (p.Cys625Tyr)
c.511G>A
n.424+2030G>A
c.509G>A (p.Cys170Tyr)
n.677+2030G>A
n.2088G>A
c.2123G>A (p.Cys708Tyr)
c.1952G>A (p.Cys651Tyr)
c.1604G>A (p.Cys535Tyr)
dbSNP gnomAD v2 gnomAD v4
2g.1496069G>CCA1511952TPOc.2087G>C (p.Cys696Ser)
c.1568G>C (p.Cys523Ser)
c.1916G>C (p.Cys639Ser)
c.1874G>C (p.Cys625Ser)
c.511G>C
n.424+2030G>C
c.509G>C (p.Cys170Ser)
n.677+2030G>C
n.2088G>C
c.2123G>C (p.Cys708Ser)
c.1952G>C (p.Cys651Ser)
c.1604G>C (p.Cys535Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1496069G=CA1233577887TPOc.2087G= (p.Cys696=)
c.1568G= (p.Cys523=)
c.1916G= (p.Cys639=)
c.1874G= (p.Cys625=)
c.511G=
n.424+2030G=
c.509G= (p.Cys170=)
n.677+2030G=
n.2088G=
c.2123G= (p.Cys708=)
c.1952G= (p.Cys651=)
c.1604G= (p.Cys535=)
2g.1496069G>TCA345697945TPOc.2087G>T (p.Cys696Phe)
c.1568G>T (p.Cys523Phe)
c.1916G>T (p.Cys639Phe)
c.1874G>T (p.Cys625Phe)
c.511G>T
n.424+2030G>T
c.509G>T (p.Cys170Phe)
n.677+2030G>T
n.2088G>T
c.2123G>T (p.Cys708Phe)
c.1952G>T (p.Cys651Phe)
c.1604G>T (p.Cys535Phe)
2g.1496070T>ACA345697947TPOc.2088T>A (p.Cys696Ter)
c.1569T>A (p.Cys523Ter)
c.1917T>A (p.Cys639Ter)
c.1875T>A (p.Cys625Ter)
c.512T>A
n.424+2031T>A
c.510T>A (p.Cys170Ter)
n.677+2031T>A
n.2089T>A
c.2124T>A (p.Cys708Ter)
c.1953T>A (p.Cys651Ter)
c.1605T>A (p.Cys535Ter)
2g.1496070T>CCA424756927TPOc.2088T>C (p.Cys696=)
c.1569T>C (p.Cys523=)
c.1917T>C (p.Cys639=)
c.1875T>C (p.Cys625=)
c.512T>C
n.424+2031T>C
c.510T>C (p.Cys170=)
n.677+2031T>C
n.2089T>C
c.2124T>C (p.Cys708=)
c.1953T>C (p.Cys651=)
c.1605T>C (p.Cys535=)
2g.1496070T>GCA345697949TPOc.2088T>G (p.Cys696Trp)
c.1569T>G (p.Cys523Trp)
c.1917T>G (p.Cys639Trp)
c.1875T>G (p.Cys625Trp)
c.512T>G
n.424+2031T>G
c.510T>G (p.Cys170Trp)
n.677+2031T>G
n.2089T>G
c.2124T>G (p.Cys708Trp)
c.1953T>G (p.Cys651Trp)
c.1605T>G (p.Cys535Trp)
2g.1496071G>ACA345697950TPOc.2089G>A (p.Asp697Asn)
c.1570G>A (p.Asp524Asn)
c.1918G>A (p.Asp640Asn)
c.1876G>A (p.Asp626Asn)
c.513G>A
n.424+2032G>A
c.511G>A (p.Asp171Asn)
n.677+2032G>A
n.2090G>A
c.2125G>A (p.Asp709Asn)
c.1954G>A (p.Asp652Asn)
c.1606G>A (p.Asp536Asn)
gnomAD v4
2g.1496071G>CCA345697953TPOc.2089G>C (p.Asp697His)
c.1570G>C (p.Asp524His)
c.1918G>C (p.Asp640His)
c.1876G>C (p.Asp626His)
c.513G>C
n.424+2032G>C
c.511G>C (p.Asp171His)
n.677+2032G>C
n.2090G>C
c.2125G>C (p.Asp709His)
c.1954G>C (p.Asp652His)
c.1606G>C (p.Asp536His)
2g.1496071G=CA1233577888TPOc.2089G= (p.Asp697=)
c.1570G= (p.Asp524=)
c.1918G= (p.Asp640=)
c.1876G= (p.Asp626=)
c.513G=
n.424+2032G=
c.511G= (p.Asp171=)
n.677+2032G=
n.2090G=
c.2125G= (p.Asp709=)
c.1954G= (p.Asp652=)
c.1606G= (p.Asp536=)
2g.1496071G>TCA345697951TPOc.2089G>T (p.Asp697Tyr)
c.1570G>T (p.Asp524Tyr)
c.1918G>T (p.Asp640Tyr)
c.1876G>T (p.Asp626Tyr)
c.513G>T
n.424+2032G>T
c.511G>T (p.Asp171Tyr)
n.677+2032G>T
n.2090G>T
c.2125G>T (p.Asp709Tyr)
c.1954G>T (p.Asp652Tyr)
c.1606G>T (p.Asp536Tyr)
dbSNP
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)

Number of alleles fetched