Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.114672013_114672027delCA608055447TBX3c.1991_2005del (p.Val664_Ser668del)
c.2051_2065del (p.Val684_Ser688del)
c.1988_2002del (p.Val663_Ser667del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.114672025G>ACA386867784TBX3c.1988C>T (p.Ser663Leu)
c.2048C>T (p.Ser683Leu)
c.1985C>T (p.Ser662Leu)
 gnomAD v4
12g.114672025G>CCA386867785TBX3c.1988C>G (p.Ser663Trp)
c.2048C>G (p.Ser683Trp)
c.1985C>G (p.Ser662Trp)
 dbSNP
12g.114672025G>TCA386867786TBX3c.1988C>A (p.Ser663Ter)
c.2048C>A (p.Ser683Ter)
c.1985C>A (p.Ser662Ter)
 gnomAD v4
12g.114672026A>CCA386867787TBX3c.1987T>G (p.Ser663Ala)
c.2047T>G (p.Ser683Ala)
c.1984T>G (p.Ser662Ala)
 gnomAD v4
12g.114672026A>GCA386867788TBX3c.1987T>C (p.Ser663Pro)
c.2047T>C (p.Ser683Pro)
c.1984T>C (p.Ser662Pro)
 dbSNP
12g.114672026A>TCA386867789TBX3c.1987T>A (p.Ser663Thr)
c.2047T>A (p.Ser683Thr)
c.1984T>A (p.Ser662Thr)
 gnomAD v4
12g.114672027G>ACA482135931TBX3c.1986C>T (p.Ala662=)
c.2046C>T (p.Ala682=)
c.1983C>T (p.Ala661=)
 dbSNP gnomAD v2
12g.114672027G>CCA482135932TBX3c.1986C>G (p.Ala662=)
c.2046C>G (p.Ala682=)
c.1983C>G (p.Ala661=)
12g.114672027G=CA2064761868TBX3c.1986C= (p.Ala662=)
c.2046C= (p.Ala682=)
c.1983C= (p.Ala661=)
12g.114672027G>TCA482135933TBX3c.1986C>A (p.Ala662=)
c.2046C>A (p.Ala682=)
c.1983C>A (p.Ala661=)
 gnomAD v4
12g.114672028G>ACA6809807TBX3c.1985C>T (p.Ala662Val)
c.2045C>T (p.Ala682Val)
c.1982C>T (p.Ala661Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672028G>CCA386867790TBX3c.1985C>G (p.Ala662Gly)
c.2045C>G (p.Ala682Gly)
c.1982C>G (p.Ala661Gly)
12g.114672028G=CA2064761869TBX3c.1985C= (p.Ala662=)
c.2045C= (p.Ala682=)
c.1982C= (p.Ala661=)
12g.114672028G>TCA386867791TBX3c.1985C>A (p.Ala662Asp)
c.2045C>A (p.Ala682Asp)
c.1982C>A (p.Ala661Asp)
 dbSNP gnomAD v4
12g.114672029C>ACA386867792TBX3c.1984G>T (p.Ala662Ser)
c.2044G>T (p.Ala682Ser)
c.1981G>T (p.Ala661Ser)
 gnomAD v4
12g.114672029C>GCA386867793TBX3c.1984G>C (p.Ala662Pro)
c.2044G>C (p.Ala682Pro)
c.1981G>C (p.Ala661Pro)
 dbSNP
12g.114672029C>TCA386867794TBX3c.1984G>A (p.Ala662Thr)
c.2044G>A (p.Ala682Thr)
c.1981G>A (p.Ala661Thr)
12g.114672030C>ACA482135934TBX3c.1983G>T (p.Pro661=)
c.2043G>T (p.Pro681=)
c.1980G>T (p.Pro660=)
12g.114672030C=CA2064761871TBX3c.1983G= (p.Pro661=)
c.2043G= (p.Pro681=)
c.1980G= (p.Pro660=)
12g.114672030C>GCA482135935TBX3c.1983G>C (p.Pro661=)
c.2043G>C (p.Pro681=)
c.1980G>C (p.Pro660=)
 dbSNP
12g.114672030C>TCA482135936TBX3c.1983G>A (p.Pro661=)
c.2043G>A (p.Pro681=)
c.1980G>A (p.Pro660=)
 dbSNP gnomAD v3 gnomAD v4
12g.114672031G>ACA6809808TBX3c.1982C>T (p.Pro661Leu)
c.2042C>T (p.Pro681Leu)
c.1979C>T (p.Pro660Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672031G>CCA386867795TBX3c.1982C>G (p.Pro661Arg)
c.2042C>G (p.Pro681Arg)
c.1979C>G (p.Pro660Arg)
12g.114672031G=CA2064761875TBX3c.1982C= (p.Pro661=)
c.2042C= (p.Pro681=)
c.1979C= (p.Pro660=)
12g.114672031G>TCA386867796TBX3c.1982C>A (p.Pro661Gln)
c.2042C>A (p.Pro681Gln)
c.1979C>A (p.Pro660Gln)
 gnomAD v4
12g.114672032G>ACA386867797TBX3c.1981C>T (p.Pro661Ser)
c.2041C>T (p.Pro681Ser)
c.1978C>T (p.Pro660Ser)
 gnomAD v4
12g.114672032G>CCA386867798TBX3c.1981C>G (p.Pro661Ala)
c.2041C>G (p.Pro681Ala)
c.1978C>G (p.Pro660Ala)
12g.114672032G>TCA386867799TBX3c.1981C>A (p.Pro661Thr)
c.2041C>A (p.Pro681Thr)
c.1978C>A (p.Pro660Thr)
 gnomAD v4
12g.114672033G>ACA482135937TBX3c.1980C>T (p.Ser660=)
c.2040C>T (p.Ser680=)
c.1977C>T (p.Ser659=)
 dbSNP gnomAD v4
12g.114672033G>CCA386867800TBX3c.1980C>G (p.Ser660Arg)
c.2040C>G (p.Ser680Arg)
c.1977C>G (p.Ser659Arg)
12g.114672033G>TCA386867801TBX3c.1980C>A (p.Ser660Arg)
c.2040C>A (p.Ser680Arg)
c.1977C>A (p.Ser659Arg)
 gnomAD v4
12g.114672034C>ACA386867802TBX3c.1979G>T (p.Ser660Ile)
c.2039G>T (p.Ser680Ile)
c.1976G>T (p.Ser659Ile)
 gnomAD v4
12g.114672034C>GCA386867803TBX3c.1979G>C (p.Ser660Thr)
c.2039G>C (p.Ser680Thr)
c.1976G>C (p.Ser659Thr)
 gnomAD v4
12g.114672034C>TCA386867804TBX3c.1979G>A (p.Ser660Asn)
c.2039G>A (p.Ser680Asn)
c.1976G>A (p.Ser659Asn)
 gnomAD v4
12g.114672035T>ACA386867805TBX3c.1978A>T (p.Ser660Cys)
c.2038A>T (p.Ser680Cys)
c.1975A>T (p.Ser659Cys)
 dbSNP
12g.114672035T>CCA386867806TBX3c.1978A>G (p.Ser660Gly)
c.2038A>G (p.Ser680Gly)
c.1975A>G (p.Ser659Gly)
 dbSNP gnomAD v4
12g.114672035T>GCA386867807TBX3c.1978A>C (p.Ser660Arg)
c.2038A>C (p.Ser680Arg)
c.1975A>C (p.Ser659Arg)
 dbSNP
12g.114672035T=CA2064761879TBX3c.1978A= (p.Ser660=)
c.2038A= (p.Ser680=)
c.1975A= (p.Ser659=)
12g.114672036G>ACA6809809TBX3c.1977C>T (p.Ala659=)
c.2037C>T (p.Ala679=)
c.1974C>T (p.Ala658=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672036G>CCA482135938TBX3c.1977C>G (p.Ala659=)
c.2037C>G (p.Ala679=)
c.1974C>G (p.Ala658=)
12g.114672036G=CA2064761882TBX3c.1977C= (p.Ala659=)
c.2037C= (p.Ala679=)
c.1974C= (p.Ala658=)
12g.114672036G>TCA482135939TBX3c.1977C>A (p.Ala659=)
c.2037C>A (p.Ala679=)
c.1974C>A (p.Ala658=)
 gnomAD v4
12g.114672037G>ACA386867810TBX3c.1976C>T (p.Ala659Val)
c.2036C>T (p.Ala679Val)
c.1973C>T (p.Ala658Val)
12g.114672037G>CCA386867809TBX3c.1976C>G (p.Ala659Gly)
c.2036C>G (p.Ala679Gly)
c.1973C>G (p.Ala658Gly)
12g.114672037G>TCA386867808TBX3c.1976C>A (p.Ala659Asp)
c.2036C>A (p.Ala679Asp)
c.1973C>A (p.Ala658Asp)
 ClinVar gnomAD v4
12g.114672038C>ACA386867812TBX3c.1975G>T (p.Ala659Ser)
c.2035G>T (p.Ala679Ser)
c.1972G>T (p.Ala658Ser)
 dbSNP gnomAD v4
12g.114672038C=CA2064761884TBX3c.1975G= (p.Ala659=)
c.2035G= (p.Ala679=)
c.1972G= (p.Ala658=)
12g.114672038C>GCA386867811TBX3c.1975G>C (p.Ala659Pro)
c.2035G>C (p.Ala679Pro)
c.1972G>C (p.Ala658Pro)
 dbSNP COSMIC
12g.114672038C>TCA244141519TBX3c.1975G>A (p.Ala659Thr)
c.2035G>A (p.Ala679Thr)
c.1972G>A (p.Ala658Thr)
 dbSNP gnomAD v4 COSMIC
12g.114672039G>ACA6809810TBX3c.1974C>T (p.Ala658=)
c.2034C>T (p.Ala678=)
c.1971C>T (p.Ala657=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672039G>CCA482135940TBX3c.1974C>G (p.Ala658=)
c.2034C>G (p.Ala678=)
c.1971C>G (p.Ala657=)
12g.114672039G=CA2064761887TBX3c.1974C= (p.Ala658=)
c.2034C= (p.Ala678=)
c.1971C= (p.Ala657=)
12g.114672039G>TCA482135941TBX3c.1974C>A (p.Ala658=)
c.2034C>A (p.Ala678=)
c.1971C>A (p.Ala657=)
 dbSNP gnomAD v2
12g.114672040G>ACA386867814TBX3c.1973C>T (p.Ala658Val)
c.2033C>T (p.Ala678Val)
c.1970C>T (p.Ala657Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672040G>CCA386867813TBX3c.1973C>G (p.Ala658Gly)
c.2033C>G (p.Ala678Gly)
c.1970C>G (p.Ala657Gly)
12g.114672040G=CA2064761897TBX3c.1973C= (p.Ala658=)
c.2033C= (p.Ala678=)
c.1970C= (p.Ala657=)
12g.114672040G>TCA386867815TBX3c.1973C>A (p.Ala658Asp)
c.2033C>A (p.Ala678Asp)
c.1970C>A (p.Ala657Asp)
12g.114672041C>ACA386867816TBX3c.1972G>T (p.Ala658Ser)
c.2032G>T (p.Ala678Ser)
c.1969G>T (p.Ala657Ser)
12g.114672041C>GCA386867817TBX3c.1972G>C (p.Ala658Pro)
c.2032G>C (p.Ala678Pro)
c.1969G>C (p.Ala657Pro)
 dbSNP
12g.114672041C>TCA386867818TBX3c.1972G>A (p.Ala658Thr)
c.2032G>A (p.Ala678Thr)
c.1969G>A (p.Ala657Thr)
 dbSNP gnomAD v4
12g.114672042C>ACA482135942TBX3c.1971G>T (p.Leu657=)
c.2031G>T (p.Leu677=)
c.1968G>T (p.Leu656=)
12g.114672042C=CA2064761901TBX3c.1971G= (p.Leu657=)
c.2031G= (p.Leu677=)
c.1968G= (p.Leu656=)
12g.114672042C>GCA482135943TBX3c.1971G>C (p.Leu657=)
c.2031G>C (p.Leu677=)
c.1968G>C (p.Leu656=)
 dbSNP
12g.114672042C>TCA6809811TBX3c.1971G>A (p.Leu657=)
c.2031G>A (p.Leu677=)
c.1968G>A (p.Leu656=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672043A>CCA386867819TBX3c.1970T>G (p.Leu657Arg)
c.2030T>G (p.Leu677Arg)
c.1967T>G (p.Leu656Arg)
12g.114672043A>GCA386867820TBX3c.1970T>C (p.Leu657Pro)
c.2030T>C (p.Leu677Pro)
c.1967T>C (p.Leu656Pro)
 dbSNP
12g.114672043A>TCA386867821TBX3c.1970T>A (p.Leu657Gln)
c.2030T>A (p.Leu677Gln)
c.1967T>A (p.Leu656Gln)
12g.114672044G>ACA482135944TBX3c.1969C>T (p.Leu657=)
c.2029C>T (p.Leu677=)
c.1966C>T (p.Leu656=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.114672044G>CCA386867822TBX3c.1969C>G (p.Leu657Val)
c.2029C>G (p.Leu677Val)
c.1966C>G (p.Leu656Val)
 ClinVar
12g.114672044G=CA2064761909TBX3c.1969C= (p.Leu657=)
c.2029C= (p.Leu677=)
c.1966C= (p.Leu656=)
12g.114672044G>TCA386867823TBX3c.1969C>A (p.Leu657Met)
c.2029C>A (p.Leu677Met)
c.1966C>A (p.Leu656Met)
12g.114672045G>ACA482135947TBX3c.1968C>T (p.Ala656=)
c.2028C>T (p.Ala676=)
c.1965C>T (p.Ala655=)
 gnomAD v4
12g.114672045G>CCA482135946TBX3c.1968C>G (p.Ala656=)
c.2028C>G (p.Ala676=)
c.1965C>G (p.Ala655=)
12g.114672045G>TCA482135945TBX3c.1968C>A (p.Ala656=)
c.2028C>A (p.Ala676=)
c.1965C>A (p.Ala655=)
12g.114672046G>ACA386867824TBX3c.1967C>T (p.Ala656Val)
c.2027C>T (p.Ala676Val)
c.1964C>T (p.Ala655Val)
12g.114672046G>CCA386867825TBX3c.1967C>G (p.Ala656Gly)
c.2027C>G (p.Ala676Gly)
c.1964C>G (p.Ala655Gly)
12g.114672046G>TCA386867826TBX3c.1967C>A (p.Ala656Asp)
c.2027C>A (p.Ala676Asp)
c.1964C>A (p.Ala655Asp)
12g.114672047C>ACA244141521TBX3c.1966G>T (p.Ala656Ser)
c.2026G>T (p.Ala676Ser)
c.1963G>T (p.Ala655Ser)
 dbSNP gnomAD v4
12g.114672047C=CA2064761914TBX3c.1966G= (p.Ala656=)
c.2026G= (p.Ala676=)
c.1963G= (p.Ala655=)
12g.114672047C>GCA386867827TBX3c.1966G>C (p.Ala656Pro)
c.2026G>C (p.Ala676Pro)
c.1963G>C (p.Ala655Pro)
 dbSNP
12g.114672047C>TCA386867828TBX3c.1966G>A (p.Ala656Thr)
c.2026G>A (p.Ala676Thr)
c.1963G>A (p.Ala655Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.114672048G>ACA6809812TBX3c.1965C>T (p.Ala655=)
c.2025C>T (p.Ala675=)
c.1962C>T (p.Ala654=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672048G>CCA482135949TBX3c.1965C>G (p.Ala655=)
c.2025C>G (p.Ala675=)
c.1962C>G (p.Ala654=)
 dbSNP
12g.114672048G=CA2064761916TBX3c.1965C= (p.Ala655=)
c.2025C= (p.Ala675=)
c.1962C= (p.Ala654=)
12g.114672048G>TCA482135948TBX3c.1965C>A (p.Ala655=)
c.2025C>A (p.Ala675=)
c.1962C>A (p.Ala654=)
12g.114672049G>ACA386867829TBX3c.1964C>T (p.Ala655Val)
c.2024C>T (p.Ala675Val)
c.1961C>T (p.Ala654Val)
 dbSNP
12g.114672049G>CCA386867830TBX3c.1964C>G (p.Ala655Gly)
c.2024C>G (p.Ala675Gly)
c.1961C>G (p.Ala654Gly)
 dbSNP gnomAD v2 gnomAD v4
12g.114672049G=CA2064761921TBX3c.1964C= (p.Ala655=)
c.2024C= (p.Ala675=)
c.1961C= (p.Ala654=)
12g.114672049G>TCA386867831TBX3c.1964C>A (p.Ala655Asp)
c.2024C>A (p.Ala675Asp)
c.1961C>A (p.Ala654Asp)
 gnomAD v4
12g.114672050C>ACA386867832TBX3c.1963G>T (p.Ala655Ser)
c.2023G>T (p.Ala675Ser)
c.1960G>T (p.Ala654Ser)
 dbSNP gnomAD v4
12g.114672050C=CA2064761923TBX3c.1963G= (p.Ala655=)
c.2023G= (p.Ala675=)
c.1960G= (p.Ala654=)
12g.114672050C>GCA386867833TBX3c.1963G>C (p.Ala655Pro)
c.2023G>C (p.Ala675Pro)
c.1960G>C (p.Ala654Pro)
 dbSNP
12g.114672050C>TCA6809813TBX3c.1963G>A (p.Ala655Thr)
c.2023G>A (p.Ala675Thr)
c.1960G>A (p.Ala654Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672051G>ACA6809814TBX3c.1962C>T (p.Val654=)
c.2022C>T (p.Val674=)
c.1959C>T (p.Val653=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.114672051G>CCA482135950TBX3c.1962C>G (p.Val654=)
c.2022C>G (p.Val674=)
c.1959C>G (p.Val653=)
12g.114672051G=CA2064761924TBX3c.1962C= (p.Val654=)
c.2022C= (p.Val674=)
c.1959C= (p.Val653=)
12g.114672051G>TCA482135951TBX3c.1962C>A (p.Val654=)
c.2022C>A (p.Val674=)
c.1959C>A (p.Val653=)
 gnomAD v4
12g.114672052A>CCA386867834TBX3c.1961T>G (p.Val654Gly)
c.2021T>G (p.Val674Gly)
c.1958T>G (p.Val653Gly)
 dbSNP
12g.114672052A>GCA386867835TBX3c.1961T>C (p.Val654Ala)
c.2021T>C (p.Val674Ala)
c.1958T>C (p.Val653Ala)
12g.114672052A>TCA386867836TBX3c.1961T>A (p.Val654Asp)
c.2021T>A (p.Val674Asp)
c.1958T>A (p.Val653Asp)
 dbSNP gnomAD v4
12g.114672053C>ACA386867839TBX3c.1960G>T (p.Val654Phe)
c.2020G>T (p.Val674Phe)
c.1957G>T (p.Val653Phe)
12g.114672053C>GCA386867838TBX3c.1960G>C (p.Val654Leu)
c.2020G>C (p.Val674Leu)
c.1957G>C (p.Val653Leu)
 dbSNP
12g.114672053C>TCA386867837TBX3c.1960G>A (p.Val654Ile)
c.2020G>A (p.Val674Ile)
c.1957G>A (p.Val653Ile)
 dbSNP
12g.114672054T>ACA386867840TBX3c.1959A>T (p.Lys653Asn)
c.2019A>T (p.Lys673Asn)
c.1956A>T (p.Lys652Asn)
 gnomAD v4
12g.114672054T>CCA482135952TBX3c.1959A>G (p.Lys653=)
c.2019A>G (p.Lys673=)
c.1956A>G (p.Lys652=)
 gnomAD v4
12g.114672054T>GCA386867841TBX3c.1959A>C (p.Lys653Asn)
c.2019A>C (p.Lys673Asn)
c.1956A>C (p.Lys652Asn)
12g.114672055T>ACA386867842TBX3c.1958A>T (p.Lys653Ile)
c.2018A>T (p.Lys673Ile)
c.1955A>T (p.Lys652Ile)
12g.114672055T>CCA386867843TBX3c.1958A>G (p.Lys653Arg)
c.2018A>G (p.Lys673Arg)
c.1955A>G (p.Lys652Arg)
 COSMIC
12g.114672055T>GCA386867844TBX3c.1958A>C (p.Lys653Thr)
c.2018A>C (p.Lys673Thr)
c.1955A>C (p.Lys652Thr)
 ClinVar dbSNP gnomAD v4
12g.114672055T=CA2064761929TBX3c.1958A= (p.Lys653=)
c.2018A= (p.Lys673=)
c.1955A= (p.Lys652=)
12g.114672056T>ACA386867845TBX3c.1957A>T (p.Lys653Ter)
c.2017A>T (p.Lys673Ter)
c.1954A>T (p.Lys652Ter)
12g.114672056T>CCA386867846TBX3c.1957A>G (p.Lys653Glu)
c.2017A>G (p.Lys673Glu)
c.1954A>G (p.Lys652Glu)
12g.114672056T>GCA386867847TBX3c.1957A>C (p.Lys653Gln)
c.2017A>C (p.Lys673Gln)
c.1954A>C (p.Lys652Gln)
12g.114672057G>ACA482135953TBX3c.1956C>T (p.Gly652=)
c.2016C>T (p.Gly672=)
c.1953C>T (p.Gly651=)
 dbSNP gnomAD v2 gnomAD v4
12g.114672057G>CCA482135954TBX3c.1956C>G (p.Gly652=)
c.2016C>G (p.Gly672=)
c.1953C>G (p.Gly651=)
 dbSNP
12g.114672057G=CA2064761933TBX3c.1956C= (p.Gly652=)
c.2016C= (p.Gly672=)
c.1953C= (p.Gly651=)
12g.114672057G>TCA482135955TBX3c.1956C>A (p.Gly652=)
c.2016C>A (p.Gly672=)
c.1953C>A (p.Gly651=)
 gnomAD v4
12g.114672058C>ACA386867848TBX3c.1955G>T (p.Gly652Val)
c.2015G>T (p.Gly672Val)
c.1952G>T (p.Gly651Val)
 gnomAD v4
12g.114672058C>GCA386867849TBX3c.1955G>C (p.Gly652Ala)
c.2015G>C (p.Gly672Ala)
c.1952G>C (p.Gly651Ala)
12g.114672058C>TCA386867850TBX3c.1955G>A (p.Gly652Asp)
c.2015G>A (p.Gly672Asp)
c.1952G>A (p.Gly651Asp)
 dbSNP gnomAD v4
12g.114672059C>ACA386867851TBX3c.1954G>T (p.Gly652Cys)
c.2014G>T (p.Gly672Cys)
c.1951G>T (p.Gly651Cys)
 gnomAD v4
12g.114672059C=CA2064761936TBX3c.1954G= (p.Gly652=)
c.2014G= (p.Gly672=)
c.1951G= (p.Gly651=)
12g.114672059C>GCA386867852TBX3c.1954G>C (p.Gly652Arg)
c.2014G>C (p.Gly672Arg)
c.1951G>C (p.Gly651Arg)
 dbSNP gnomAD v3 gnomAD v4
12g.114672059C>TCA386867853TBX3c.1954G>A (p.Gly652Ser)
c.2014G>A (p.Gly672Ser)
c.1951G>A (p.Gly651Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.114672060G>ACA482135956TBX3c.1953C>T (p.Asp651=)
c.2013C>T (p.Asp671=)
c.1950C>T (p.Asp650=)
 dbSNP gnomAD v2 gnomAD v4
12g.114672060G>CCA386867854TBX3c.1953C>G (p.Asp651Glu)
c.2013C>G (p.Asp671Glu)
c.1950C>G (p.Asp650Glu)
12g.114672060G=CA2064761941TBX3c.1953C= (p.Asp651=)
c.2013C= (p.Asp671=)
c.1950C= (p.Asp650=)
12g.114672060G>TCA386867855TBX3c.1953C>A (p.Asp651Glu)
c.2013C>A (p.Asp671Glu)
c.1950C>A (p.Asp650Glu)
 dbSNP gnomAD v4
12g.114672061T>ACA386867856TBX3c.1952A>T (p.Asp651Val)
c.2012A>T (p.Asp671Val)
c.1949A>T (p.Asp650Val)
 dbSNP
12g.114672061T>CCA386867857TBX3c.1952A>G (p.Asp651Gly)
c.2012A>G (p.Asp671Gly)
c.1949A>G (p.Asp650Gly)
 dbSNP gnomAD v4
12g.114672061T>GCA386867858TBX3c.1952A>C (p.Asp651Ala)
c.2012A>C (p.Asp671Ala)
c.1949A>C (p.Asp650Ala)
 dbSNP
12g.114672061T=CA2064761943TBX3c.1952A= (p.Asp651=)
c.2012A= (p.Asp671=)
c.1949A= (p.Asp650=)
12g.114672062C>ACA386867859TBX3c.1951G>T (p.Asp651Tyr)
c.2011G>T (p.Asp671Tyr)
c.1948G>T (p.Asp650Tyr)
 gnomAD v4
12g.114672062C=CA2064761951TBX3c.1951G= (p.Asp651=)
c.2011G= (p.Asp671=)
c.1948G= (p.Asp650=)
12g.114672062C>GCA386867860TBX3c.1951G>C (p.Asp651His)
c.2011G>C (p.Asp671His)
c.1948G>C (p.Asp650His)
12g.114672062C>TCA6809815TBX3c.1951G>A (p.Asp651Asn)
c.2011G>A (p.Asp671Asn)
c.1948G>A (p.Asp650Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672063C>ACA482135957TBX3c.1950G>T (p.Leu650=)
c.2010G>T (p.Leu670=)
c.1947G>T (p.Leu649=)
12g.114672063C=CA2064761961TBX3c.1950G= (p.Leu650=)
c.2010G= (p.Leu670=)
c.1947G= (p.Leu649=)
12g.114672063C>GCA244141533TBX3c.1950G>C (p.Leu650=)
c.2010G>C (p.Leu670=)
c.1947G>C (p.Leu649=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672063C>TCA482135958TBX3c.1950G>A (p.Leu650=)
c.2010G>A (p.Leu670=)
c.1947G>A (p.Leu649=)
12g.114672064A=CA2064761963TBX3c.1949T= (p.Leu650=)
c.2009T= (p.Leu670=)
c.1946T= (p.Leu649=)
12g.114672064A>CCA386867861TBX3c.1949T>G (p.Leu650Arg)
c.2009T>G (p.Leu670Arg)
c.1946T>G (p.Leu649Arg)
 COSMIC
12g.114672064A>GCA386867862TBX3c.1949T>C (p.Leu650Pro)
c.2009T>C (p.Leu670Pro)
c.1946T>C (p.Leu649Pro)
 dbSNP gnomAD v3 gnomAD v4
12g.114672064A>TCA386867863TBX3c.1949T>A (p.Leu650Gln)
c.2009T>A (p.Leu670Gln)
c.1946T>A (p.Leu649Gln)
12g.114672065G>ACA482135959TBX3c.1948C>T (p.Leu650=)
c.2008C>T (p.Leu670=)
c.1945C>T (p.Leu649=)
12g.114672065G>CCA386867864TBX3c.1948C>G (p.Leu650Val)
c.2008C>G (p.Leu670Val)
c.1945C>G (p.Leu649Val)
12g.114672065G>TCA386867865TBX3c.1948C>A (p.Leu650Met)
c.2008C>A (p.Leu670Met)
c.1945C>A (p.Leu649Met)
 gnomAD v4
12g.114672066G>ACA482135960TBX3c.1947C>T (p.Pro649=)
c.2007C>T (p.Pro669=)
c.1944C>T (p.Pro648=)
12g.114672066G>CCA6809816TBX3c.1947C>G (p.Pro649=)
c.2007C>G (p.Pro669=)
c.1944C>G (p.Pro648=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672066G=CA2064761965TBX3c.1947C= (p.Pro649=)
c.2007C= (p.Pro669=)
c.1944C= (p.Pro648=)
12g.114672066G>TCA482135961TBX3c.1947C>A (p.Pro649=)
c.2007C>A (p.Pro669=)
c.1944C>A (p.Pro648=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.114672067G>ACA386867867TBX3c.1946C>T (p.Pro649Leu)
c.2006C>T (p.Pro669Leu)
c.1943C>T (p.Pro648Leu)
 gnomAD v4
12g.114672067G>CCA386867866TBX3c.1946C>G (p.Pro649Arg)
c.2006C>G (p.Pro669Arg)
c.1943C>G (p.Pro648Arg)
 dbSNP
12g.114672067G=CA2064761968TBX3c.1946C= (p.Pro649=)
c.2006C= (p.Pro669=)
c.1943C= (p.Pro648=)
12g.114672067G>TCA244141543TBX3c.1946C>A (p.Pro649His)
c.2006C>A (p.Pro669His)
c.1943C>A (p.Pro648His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672068G>ACA386867869TBX3c.1945C>T (p.Pro649Ser)
c.2005C>T (p.Pro669Ser)
c.1942C>T (p.Pro648Ser)
 ClinVar gnomAD v4
12g.114672068G>CCA386867868TBX3c.1945C>G (p.Pro649Ala)
c.2005C>G (p.Pro669Ala)
c.1942C>G (p.Pro648Ala)
 dbSNP gnomAD v3 gnomAD v4
12g.114672068G=CA2064761971TBX3c.1945C= (p.Pro649=)
c.2005C= (p.Pro669=)
c.1942C= (p.Pro648=)
12g.114672068G>TCA386867870TBX3c.1945C>A (p.Pro649Thr)
c.2005C>A (p.Pro669Thr)
c.1942C>A (p.Pro648Thr)
 gnomAD v4
12g.114672069C>ACA482135962TBX3c.1944G>T (p.Gly648=)
c.2004G>T (p.Gly668=)
c.1941G>T (p.Gly647=)
 gnomAD v4
12g.114672069C>GCA482135963TBX3c.1944G>C (p.Gly648=)
c.2004G>C (p.Gly668=)
c.1941G>C (p.Gly647=)
12g.114672069C>TCA482135964TBX3c.1944G>A (p.Gly648=)
c.2004G>A (p.Gly668=)
c.1941G>A (p.Gly647=)
 ClinVar gnomAD v4
12g.114672070C>ACA386867871TBX3c.1943G>T (p.Gly648Val)
c.2003G>T (p.Gly668Val)
c.1940G>T (p.Gly647Val)
12g.114672070C>GCA386867872TBX3c.1943G>C (p.Gly648Ala)
c.2003G>C (p.Gly668Ala)
c.1940G>C (p.Gly647Ala)
12g.114672070C>TCA386867873TBX3c.1943G>A (p.Gly648Glu)
c.2003G>A (p.Gly668Glu)
c.1940G>A (p.Gly647Glu)
12g.114672071C>ACA386867874TBX3c.1942G>T (p.Gly648Trp)
c.2002G>T (p.Gly668Trp)
c.1939G>T (p.Gly647Trp)
12g.114672071C=CA2064761975TBX3c.1942G= (p.Gly648=)
c.2002G= (p.Gly668=)
c.1939G= (p.Gly647=)
12g.114672071C>GCA386867875TBX3c.1942G>C (p.Gly648Arg)
c.2002G>C (p.Gly668Arg)
c.1939G>C (p.Gly647Arg)
12g.114672071C>TCA6809817TBX3c.1942G>A (p.Gly648Arg)
c.2002G>A (p.Gly668Arg)
c.1939G>A (p.Gly647Arg)
 dbSNP ExAC gnomAD v2
12g.114672072C>ACA482135965TBX3c.1941G>T (p.Ala647=)
c.2001G>T (p.Ala667=)
c.1938G>T (p.Ala646=)
 dbSNP gnomAD v4
12g.114672072C=CA2064761976TBX3c.1941G= (p.Ala647=)
c.2001G= (p.Ala667=)
c.1938G= (p.Ala646=)
12g.114672072C>GCA482135966TBX3c.1941G>C (p.Ala647=)
c.2001G>C (p.Ala667=)
c.1938G>C (p.Ala646=)
 dbSNP
12g.114672072C>TCA6809818TBX3c.1941G>A (p.Ala647=)
c.2001G>A (p.Ala667=)
c.1938G>A (p.Ala646=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672073G>ACA6809820TBX3c.1940C>T (p.Ala647Val)
c.2000C>T (p.Ala667Val)
c.1937C>T (p.Ala646Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672073G>CCA386867876TBX3c.1940C>G (p.Ala647Gly)
c.2000C>G (p.Ala667Gly)
c.1937C>G (p.Ala646Gly)
 dbSNP
12g.114672073G=CA2064761979TBX3c.1940C= (p.Ala647=)
c.2000C= (p.Ala667=)
c.1937C= (p.Ala646=)
12g.114672073G>TCA6809819TBX3c.1940C>A (p.Ala647Glu)
c.2000C>A (p.Ala667Glu)
c.1937C>A (p.Ala646Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672075_114672077dupCA2621129658TBX3c.1938_1940dup (p.Ala647_Gly648insAla)
c.1998_2000dup (p.Ala667_Gly668insAla)
c.1935_1937dup (p.Ala646_Gly647insAla)
 gnomAD v4
12g.114672074C>ACA386867877TBX3c.1939G>T (p.Ala647Ser)
c.1999G>T (p.Ala667Ser)
c.1936G>T (p.Ala646Ser)
 gnomAD v4
12g.114672074C=CA2064761980TBX3c.1939G= (p.Ala647=)
c.1999G= (p.Ala667=)
c.1936G= (p.Ala646=)
12g.114672074C>GCA386867878TBX3c.1939G>C (p.Ala647Pro)
c.1999G>C (p.Ala667Pro)
c.1936G>C (p.Ala646Pro)
12g.114672074C>TCA386867879TBX3c.1939G>A (p.Ala647Thr)
c.1999G>A (p.Ala667Thr)
c.1936G>A (p.Ala646Thr)
 dbSNP gnomAD v4
12g.114672075G>ACA482135967TBX3c.1938C>T (p.Ala646=)
c.1998C>T (p.Ala666=)
c.1935C>T (p.Ala645=)
 gnomAD v4
12g.114672075G>CCA482135968TBX3c.1938C>G (p.Ala646=)
c.1998C>G (p.Ala666=)
c.1935C>G (p.Ala645=)
 dbSNP
12g.114672075G=CA2064761982TBX3c.1938C= (p.Ala646=)
c.1998C= (p.Ala666=)
c.1935C= (p.Ala645=)
12g.114672075G>TCA482135969TBX3c.1938C>A (p.Ala646=)
c.1998C>A (p.Ala666=)
c.1935C>A (p.Ala645=)
 dbSNP
12g.114672076G>ACA244141627TBX3c.1937C>T (p.Ala646Val)
c.1997C>T (p.Ala666Val)
c.1934C>T (p.Ala645Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672076G>CCA386867881TBX3c.1937C>G (p.Ala646Gly)
c.1997C>G (p.Ala666Gly)
c.1934C>G (p.Ala645Gly)
 dbSNP gnomAD v4
12g.114672076G=CA2064761985TBX3c.1937C= (p.Ala646=)
c.1997C= (p.Ala666=)
c.1934C= (p.Ala645=)
12g.114672076G>TCA386867880TBX3c.1937C>A (p.Ala646Asp)
c.1997C>A (p.Ala666Asp)
c.1934C>A (p.Ala645Asp)
 dbSNP
12g.114672077C>ACA386867882TBX3c.1936G>T (p.Ala646Ser)
c.1996G>T (p.Ala666Ser)
c.1933G>T (p.Ala645Ser)
12g.114672077C>GCA386867883TBX3c.1936G>C (p.Ala646Pro)
c.1996G>C (p.Ala666Pro)
c.1933G>C (p.Ala645Pro)
 dbSNP
12g.114672077C>TCA386867884TBX3c.1936G>A (p.Ala646Thr)
c.1996G>A (p.Ala666Thr)
c.1933G>A (p.Ala645Thr)
 dbSNP
12g.114672078C>ACA482135970TBX3c.1935G>T (p.Ala645=)
c.1995G>T (p.Ala665=)
c.1932G>T (p.Ala644=)
 dbSNP
12g.114672078C=CA2064761987TBX3c.1935G= (p.Ala645=)
c.1995G= (p.Ala665=)
c.1932G= (p.Ala644=)
12g.114672078C>GCA482135971TBX3c.1935G>C (p.Ala645=)
c.1995G>C (p.Ala665=)
c.1932G>C (p.Ala644=)
12g.114672078C>TCA482135972TBX3c.1935G>A (p.Ala645=)
c.1995G>A (p.Ala665=)
c.1932G>A (p.Ala644=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672079G>ACA386867885TBX3c.1934C>T (p.Ala645Val)
c.1994C>T (p.Ala665Val)
c.1931C>T (p.Ala644Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672079G>CCA386867886TBX3c.1934C>G (p.Ala645Gly)
c.1994C>G (p.Ala665Gly)
c.1931C>G (p.Ala644Gly)
 dbSNP
12g.114672079G=CA2064761992TBX3c.1934C= (p.Ala645=)
c.1994C= (p.Ala665=)
c.1931C= (p.Ala644=)
12g.114672079G>TCA386867887TBX3c.1934C>A (p.Ala645Glu)
c.1994C>A (p.Ala665Glu)
c.1931C>A (p.Ala644Glu)
 dbSNP gnomAD v4
12g.114672080C>ACA386867888TBX3c.1933G>T (p.Ala645Ser)
c.1993G>T (p.Ala665Ser)
c.1930G>T (p.Ala644Ser)
 gnomAD v4
12g.114672080C>GCA386867889TBX3c.1933G>C (p.Ala645Pro)
c.1993G>C (p.Ala665Pro)
c.1930G>C (p.Ala644Pro)
12g.114672080C>TCA386867890TBX3c.1933G>A (p.Ala645Thr)
c.1993G>A (p.Ala665Thr)
c.1930G>A (p.Ala644Thr)
 dbSNP
12g.114672081C>ACA482135973TBX3c.1932G>T (p.Ala644=)
c.1992G>T (p.Ala664=)
c.1929G>T (p.Ala643=)
12g.114672081C=CA2064761994TBX3c.1932G= (p.Ala644=)
c.1992G= (p.Ala664=)
c.1929G= (p.Ala643=)
12g.114672081C>GCA482135974TBX3c.1932G>C (p.Ala644=)
c.1992G>C (p.Ala664=)
c.1929G>C (p.Ala643=)
12g.114672081C>TCA6809821TBX3c.1932G>A (p.Ala644=)
c.1992G>A (p.Ala664=)
c.1929G>A (p.Ala643=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.114672082G>ACA6809822TBX3c.1931C>T (p.Ala644Val)
c.1991C>T (p.Ala664Val)
c.1928C>T (p.Ala643Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.114672082G>CCA386867892TBX3c.1931C>G (p.Ala644Gly)
c.1991C>G (p.Ala664Gly)
c.1928C>G (p.Ala643Gly)
 dbSNP
12g.114672082G=CA2064761998TBX3c.1931C= (p.Ala644=)
c.1991C= (p.Ala664=)
c.1928C= (p.Ala643=)
12g.114672082G>TCA386867891TBX3c.1931C>A (p.Ala644Glu)
c.1991C>A (p.Ala664Glu)
c.1928C>A (p.Ala643Glu)
 gnomAD v4
12g.114672083C>ACA386867893TBX3c.1930G>T (p.Ala644Ser)
c.1990G>T (p.Ala664Ser)
c.1927G>T (p.Ala643Ser)
 gnomAD v4
12g.114672083C>GCA386867894TBX3c.1930G>C (p.Ala644Pro)
c.1990G>C (p.Ala664Pro)
c.1927G>C (p.Ala643Pro)
12g.114672083C>TCA386867895TBX3c.1930G>A (p.Ala644Thr)
c.1990G>A (p.Ala664Thr)
c.1927G>A (p.Ala643Thr)
12g.114672084C>ACA386867896TBX3c.1929G>T (p.Met643Ile)
c.1989G>T (p.Met663Ile)
c.1926G>T (p.Met642Ile)
 gnomAD v4
12g.114672084C>GCA386867897TBX3c.1929G>C (p.Met643Ile)
c.1989G>C (p.Met663Ile)
c.1926G>C (p.Met642Ile)
12g.114672084C>TCA386867898TBX3c.1929G>A (p.Met643Ile)
c.1989G>A (p.Met663Ile)
c.1926G>A (p.Met642Ile)
12g.114672085A=CA2064762002TBX3c.1928T= (p.Met643=)
c.1988T= (p.Met663=)
c.1925T= (p.Met642=)
12g.114672085A>CCA386867899TBX3c.1928T>G (p.Met643Arg)
c.1988T>G (p.Met663Arg)
c.1925T>G (p.Met642Arg)
12g.114672085A>GCA6809823TBX3c.1928T>C (p.Met643Thr)
c.1988T>C (p.Met663Thr)
c.1925T>C (p.Met642Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672085A>TCA386867900TBX3c.1928T>A (p.Met643Lys)
c.1988T>A (p.Met663Lys)
c.1925T>A (p.Met642Lys)
12g.114672086T>ACA386867901TBX3c.1927A>T (p.Met643Leu)
c.1987A>T (p.Met663Leu)
c.1924A>T (p.Met642Leu)
12g.114672086T>CCA386867902TBX3c.1927A>G (p.Met643Val)
c.1987A>G (p.Met663Val)
c.1924A>G (p.Met642Val)
 gnomAD v4
12g.114672086T>GCA386867903TBX3c.1927A>C (p.Met643Leu)
c.1987A>C (p.Met663Leu)
c.1924A>C (p.Met642Leu)
12g.114672087G>ACA482135977TBX3c.1926C>T (p.Ser642=)
c.1986C>T (p.Ser662=)
c.1923C>T (p.Ser641=)
 dbSNP gnomAD v3 gnomAD v4
12g.114672087G>CCA482135975TBX3c.1926C>G (p.Ser642=)
c.1986C>G (p.Ser662=)
c.1923C>G (p.Ser641=)
12g.114672087G=CA2064762004TBX3c.1926C= (p.Ser642=)
c.1986C= (p.Ser662=)
c.1923C= (p.Ser641=)
12g.114672087G>TCA482135976TBX3c.1926C>A (p.Ser642=)
c.1986C>A (p.Ser662=)
c.1923C>A (p.Ser641=)
 gnomAD v4
12g.114672089_114672100delCA2621129659TBX3c.1915_1926del (p.Ala639_Ser642del)
c.1975_1986del (p.Ala659_Ser662del)
c.1912_1923del (p.Ala638_Ser641del)
 gnomAD v4
12g.114672088G>ACA386867905TBX3c.1925C>T (p.Ser642Phe)
c.1985C>T (p.Ser662Phe)
c.1922C>T (p.Ser641Phe)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.114672088G>CCA386867906TBX3c.1925C>G (p.Ser642Cys)
c.1985C>G (p.Ser662Cys)
c.1922C>G (p.Ser641Cys)
 dbSNP gnomAD v2 gnomAD v4
12g.114672088G=CA2064762007TBX3c.1925C= (p.Ser642=)
c.1985C= (p.Ser662=)
c.1922C= (p.Ser641=)
12g.114672088G>TCA386867904TBX3c.1925C>A (p.Ser642Tyr)
c.1985C>A (p.Ser662Tyr)
c.1922C>A (p.Ser641Tyr)
 gnomAD v4
12g.114672089A>CCA386867907TBX3c.1924T>G (p.Ser642Ala)
c.1984T>G (p.Ser662Ala)
c.1921T>G (p.Ser641Ala)
12g.114672089A>GCA386867908TBX3c.1924T>C (p.Ser642Pro)
c.1984T>C (p.Ser662Pro)
c.1921T>C (p.Ser641Pro)
 dbSNP gnomAD v4
12g.114672089A>TCA386867909TBX3c.1924T>A (p.Ser642Thr)
c.1984T>A (p.Ser662Thr)
c.1921T>A (p.Ser641Thr)
 gnomAD v4
12g.114672090G>ACA6809824TBX3c.1923C>T (p.Pro641=)
c.1983C>T (p.Pro661=)
c.1920C>T (p.Pro640=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672090G>CCA482135979TBX3c.1923C>G (p.Pro641=)
c.1983C>G (p.Pro661=)
c.1920C>G (p.Pro640=)
12g.114672090G=CA2064762014TBX3c.1923C= (p.Pro641=)
c.1983C= (p.Pro661=)
c.1920C= (p.Pro640=)
12g.114672090G>TCA482135978TBX3c.1923C>A (p.Pro641=)
c.1983C>A (p.Pro661=)
c.1920C>A (p.Pro640=)
 gnomAD v4
12g.114672091G>ACA386867910TBX3c.1922C>T (p.Pro641Leu)
c.1982C>T (p.Pro661Leu)
c.1919C>T (p.Pro640Leu)
12g.114672091G>CCA386867911TBX3c.1922C>G (p.Pro641Arg)
c.1982C>G (p.Pro661Arg)
c.1919C>G (p.Pro640Arg)
12g.114672091G=CA2064762017TBX3c.1922C= (p.Pro641=)
c.1982C= (p.Pro661=)
c.1919C= (p.Pro640=)
12g.114672091G>TCA386867912TBX3c.1922C>A (p.Pro641His)
c.1982C>A (p.Pro661His)
c.1919C>A (p.Pro640His)
 gnomAD v4
12g.114672091_114672092insCCA2740097577TBX3c.1921_1922insG (p.Pro641ArgfsTer?)
c.1981_1982insG (p.Pro661ArgfsTer?)
c.1918_1919insG (p.Pro640ArgfsTer?)
 ClinVar
12g.114672092G>ACA386867913TBX3c.1921C>T (p.Pro641Ser)
c.1981C>T (p.Pro661Ser)
c.1918C>T (p.Pro640Ser)
 dbSNP gnomAD v4
12g.114672092G>CCA386867915TBX3c.1921C>G (p.Pro641Ala)
c.1981C>G (p.Pro661Ala)
c.1918C>G (p.Pro640Ala)
12g.114672092G>TCA386867914TBX3c.1921C>A (p.Pro641Thr)
c.1981C>A (p.Pro661Thr)
c.1918C>A (p.Pro640Thr)
 gnomAD v4
12g.114672092_114672093dupCA891863091TBX3c.1920_1921dup (p.Pro641ArgfsTer?)
c.1980_1981dup (p.Pro661ArgfsTer?)
c.1917_1918dup (p.Pro640ArgfsTer?)
 ClinVar dbSNP
12g.114672093C>ACA482135980TBX3c.1920G>T (p.Leu640=)
c.1980G>T (p.Leu660=)
c.1917G>T (p.Leu639=)
12g.114672093C=CA2064762028TBX3c.1920G= (p.Leu640=)
c.1980G= (p.Leu660=)
c.1917G= (p.Leu639=)
12g.114672093C>GCA482135981TBX3c.1920G>C (p.Leu640=)
c.1980G>C (p.Leu660=)
c.1917G>C (p.Leu639=)
12g.114672093C>TCA482135982TBX3c.1920G>A (p.Leu640=)
c.1980G>A (p.Leu660=)
c.1917G>A (p.Leu639=)
 dbSNP gnomAD v3 gnomAD v4
12g.114672094A>CCA386867916TBX3c.1919T>G (p.Leu640Arg)
c.1979T>G (p.Leu660Arg)
c.1916T>G (p.Leu639Arg)
12g.114672094A>GCA386867917TBX3c.1919T>C (p.Leu640Pro)
c.1979T>C (p.Leu660Pro)
c.1916T>C (p.Leu639Pro)
 gnomAD v4
12g.114672094A>TCA386867918TBX3c.1919T>A (p.Leu640Gln)
c.1979T>A (p.Leu660Gln)
c.1916T>A (p.Leu639Gln)
12g.114672095G>ACA482135983TBX3c.1918C>T (p.Leu640=)
c.1978C>T (p.Leu660=)
c.1915C>T (p.Leu639=)
 dbSNP gnomAD v4
12g.114672095G>CCA386867919TBX3c.1918C>G (p.Leu640Val)
c.1978C>G (p.Leu660Val)
c.1915C>G (p.Leu639Val)
 dbSNP
12g.114672095G>TCA386867920TBX3c.1918C>A (p.Leu640Met)
c.1978C>A (p.Leu660Met)
c.1915C>A (p.Leu639Met)
 gnomAD v4
12g.114672096G>ACA482135984TBX3c.1917C>T (p.Ala639=)
c.1977C>T (p.Ala659=)
c.1914C>T (p.Ala638=)
 gnomAD v4
12g.114672096G>CCA482135985TBX3c.1917C>G (p.Ala639=)
c.1977C>G (p.Ala659=)
c.1914C>G (p.Ala638=)
12g.114672096G>TCA482135986TBX3c.1917C>A (p.Ala639=)
c.1977C>A (p.Ala659=)
c.1914C>A (p.Ala638=)
 gnomAD v4
12g.114672097G>ACA386867923TBX3c.1916C>T (p.Ala639Val)
c.1976C>T (p.Ala659Val)
c.1913C>T (p.Ala638Val)
 gnomAD v4
12g.114672097G>CCA386867922TBX3c.1916C>G (p.Ala639Gly)
c.1976C>G (p.Ala659Gly)
c.1913C>G (p.Ala638Gly)
12g.114672097G>TCA386867921TBX3c.1916C>A (p.Ala639Asp)
c.1976C>A (p.Ala659Asp)
c.1913C>A (p.Ala638Asp)
12g.114672098C>ACA386867924TBX3c.1915G>T (p.Ala639Ser)
c.1975G>T (p.Ala659Ser)
c.1912G>T (p.Ala638Ser)
 gnomAD v4
12g.114672098C=CA2064762032TBX3c.1915G= (p.Ala639=)
c.1975G= (p.Ala659=)
c.1912G= (p.Ala638=)
12g.114672098C>GCA386867926TBX3c.1915G>C (p.Ala639Pro)
c.1975G>C (p.Ala659Pro)
c.1912G>C (p.Ala638Pro)
 dbSNP
12g.114672098C>TCA386867925TBX3c.1915G>A (p.Ala639Thr)
c.1975G>A (p.Ala659Thr)
c.1912G>A (p.Ala638Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.114672099G>ACA482135987TBX3c.1914C>T (p.Thr638=)
c.1974C>T (p.Thr658=)
c.1911C>T (p.Thr637=)
 dbSNP gnomAD v2 gnomAD v4
12g.114672099G>CCA482135988TBX3c.1914C>G (p.Thr638=)
c.1974C>G (p.Thr658=)
c.1911C>G (p.Thr637=)
12g.114672099G=CA2064762035TBX3c.1914C= (p.Thr638=)
c.1974C= (p.Thr658=)
c.1911C= (p.Thr637=)
12g.114672099G>TCA482135989TBX3c.1914C>A (p.Thr638=)
c.1974C>A (p.Thr658=)
c.1911C>A (p.Thr637=)
 gnomAD v4
12g.114672100G>ACA386867927TBX3c.1913C>T (p.Thr638Ile)
c.1973C>T (p.Thr658Ile)
c.1910C>T (p.Thr637Ile)
 dbSNP gnomAD v4
12g.114672100G>CCA386867928TBX3c.1913C>G (p.Thr638Ser)
c.1973C>G (p.Thr658Ser)
c.1910C>G (p.Thr637Ser)
12g.114672100G=CA2064762039TBX3c.1913C= (p.Thr638=)
c.1973C= (p.Thr658=)
c.1910C= (p.Thr637=)
12g.114672100G>TCA386867929TBX3c.1913C>A (p.Thr638Asn)
c.1973C>A (p.Thr658Asn)
c.1910C>A (p.Thr637Asn)
 dbSNP gnomAD v2 gnomAD v4
12g.114672101T>ACA386867930TBX3c.1912A>T (p.Thr638Ser)
c.1972A>T (p.Thr658Ser)
c.1909A>T (p.Thr637Ser)
 dbSNP
12g.114672101T>CCA6809825TBX3c.1912A>G (p.Thr638Ala)
c.1972A>G (p.Thr658Ala)
c.1909A>G (p.Thr637Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672101T>GCA386867931TBX3c.1912A>C (p.Thr638Pro)
c.1972A>C (p.Thr658Pro)
c.1909A>C (p.Thr637Pro)
 dbSNP gnomAD v4
12g.114672101T=CA2064762042TBX3c.1912A= (p.Thr638=)
c.1972A= (p.Thr658=)
c.1909A= (p.Thr637=)
12g.114672102G>ACA482135991TBX3c.1911C>T (p.Thr637=)
c.1971C>T (p.Thr657=)
c.1908C>T (p.Thr636=)
 dbSNP gnomAD v4
12g.114672102G>CCA482135992TBX3c.1911C>G (p.Thr637=)
c.1971C>G (p.Thr657=)
c.1908C>G (p.Thr636=)
12g.114672102G=CA2064762044TBX3c.1911C= (p.Thr637=)
c.1971C= (p.Thr657=)
c.1908C= (p.Thr636=)
12g.114672102G>TCA482135993TBX3c.1911C>A (p.Thr637=)
c.1971C>A (p.Thr657=)
c.1908C>A (p.Thr636=)
 gnomAD v4
12g.114672103G>ACA386867932TBX3c.1910C>T (p.Thr637Ile)
c.1970C>T (p.Thr657Ile)
c.1907C>T (p.Thr636Ile)
12g.114672103G>CCA386867933TBX3c.1910C>G (p.Thr637Ser)
c.1970C>G (p.Thr657Ser)
c.1907C>G (p.Thr636Ser)
12g.114672103G>TCA386867934TBX3c.1910C>A (p.Thr637Asn)
c.1970C>A (p.Thr657Asn)
c.1907C>A (p.Thr636Asn)
 COSMIC
12g.114672104T>ACA386867935TBX3c.1909A>T (p.Thr637Ser)
c.1969A>T (p.Thr657Ser)
c.1906A>T (p.Thr636Ser)
12g.114672104T>CCA386867936TBX3c.1909A>G (p.Thr637Ala)
c.1969A>G (p.Thr657Ala)
c.1906A>G (p.Thr636Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.114672104T>GCA386867937TBX3c.1909A>C (p.Thr637Pro)
c.1969A>C (p.Thr657Pro)
c.1906A>C (p.Thr636Pro)
12g.114672104T=CA2064762049TBX3c.1909A= (p.Thr637=)
c.1969A= (p.Thr657=)
c.1906A= (p.Thr636=)
12g.114672105G>ACA244141654TBX3c.1908C>T (p.Leu636=)
c.1968C>T (p.Leu656=)
c.1905C>T (p.Leu635=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.114672105G>CCA482135998TBX3c.1908C>G (p.Leu636=)
c.1968C>G (p.Leu656=)
c.1905C>G (p.Leu635=)
12g.114672105G=CA2064762054TBX3c.1908C= (p.Leu636=)
c.1968C= (p.Leu656=)
c.1905C= (p.Leu635=)
12g.114672105G>TCA482135997TBX3c.1908C>A (p.Leu636=)
c.1968C>A (p.Leu656=)
c.1905C>A (p.Leu635=)
 gnomAD v4
12g.114672106A>CCA386867940TBX3c.1907T>G (p.Leu636Arg)
c.1967T>G (p.Leu656Arg)
c.1904T>G (p.Leu635Arg)
12g.114672106A>GCA386867938TBX3c.1907T>C (p.Leu636Pro)
c.1967T>C (p.Leu656Pro)
c.1904T>C (p.Leu635Pro)
 gnomAD v4
12g.114672106A>TCA386867939TBX3c.1907T>A (p.Leu636His)
c.1967T>A (p.Leu656His)
c.1904T>A (p.Leu635His)
12g.114672107G>ACA244141655TBX3c.1906C>T (p.Leu636Phe)
c.1966C>T (p.Leu656Phe)
c.1903C>T (p.Leu635Phe)
 dbSNP gnomAD v3 gnomAD v4
12g.114672107G>CCA386867941TBX3c.1906C>G (p.Leu636Val)
c.1966C>G (p.Leu656Val)
c.1903C>G (p.Leu635Val)
 dbSNP
12g.114672107G=CA2064762058TBX3c.1906C= (p.Leu636=)
c.1966C= (p.Leu656=)
c.1903C= (p.Leu635=)
12g.114672107G>TCA386867942TBX3c.1906C>A (p.Leu636Ile)
c.1966C>A (p.Leu656Ile)
c.1903C>A (p.Leu635Ile)
12g.114672108C>ACA482136002TBX3c.1905G>T (p.Leu635=)
c.1965G>T (p.Leu655=)
c.1902G>T (p.Leu634=)
 gnomAD v4
12g.114672108C>GCA482136004TBX3c.1905G>C (p.Leu635=)
c.1965G>C (p.Leu655=)
c.1902G>C (p.Leu634=)
12g.114672108C>TCA482136003TBX3c.1905G>A (p.Leu635=)
c.1965G>A (p.Leu655=)
c.1902G>A (p.Leu634=)
 dbSNP gnomAD v4
12g.114672109A>CCA386867943TBX3c.1904T>G (p.Leu635Arg)
c.1964T>G (p.Leu655Arg)
c.1901T>G (p.Leu634Arg)
12g.114672109A>GCA386867944TBX3c.1904T>C (p.Leu635Pro)
c.1964T>C (p.Leu655Pro)
c.1901T>C (p.Leu634Pro)
12g.114672109A>TCA386867945TBX3c.1904T>A (p.Leu635Gln)
c.1964T>A (p.Leu655Gln)
c.1901T>A (p.Leu634Gln)
12g.114672110G>ACA244141656TBX3c.1903C>T (p.Leu635=)
c.1963C>T (p.Leu655=)
c.1900C>T (p.Leu634=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672110G>CCA386867946TBX3c.1903C>G (p.Leu635Val)
c.1963C>G (p.Leu655Val)
c.1900C>G (p.Leu634Val)
 gnomAD v4
12g.114672110G=CA2064762068TBX3c.1903C= (p.Leu635=)
c.1963C= (p.Leu655=)
c.1900C= (p.Leu634=)
12g.114672110G>TCA386867947TBX3c.1903C>A (p.Leu635Met)
c.1963C>A (p.Leu655Met)
c.1900C>A (p.Leu634Met)
 gnomAD v4
12g.114672111A=CA2064762072TBX3c.1902T= (p.Ser634=)
c.1962T= (p.Ser654=)
c.1899T= (p.Ser633=)
12g.114672111A>CCA386867948TBX3c.1902T>G (p.Ser634Arg)
c.1962T>G (p.Ser654Arg)
c.1899T>G (p.Ser633Arg)
12g.114672111A>GCA482136007TBX3c.1902T>C (p.Ser634=)
c.1962T>C (p.Ser654=)
c.1899T>C (p.Ser633=)
 dbSNP gnomAD v4
12g.114672111A>TCA386867949TBX3c.1902T>A (p.Ser634Arg)
c.1962T>A (p.Ser654Arg)
c.1899T>A (p.Ser633Arg)
 dbSNP
12g.114672112C>ACA386867952TBX3c.1901G>T (p.Ser634Ile)
c.1961G>T (p.Ser654Ile)
c.1898G>T (p.Ser633Ile)
 gnomAD v4
12g.114672112C=CA2064762078TBX3c.1901G= (p.Ser634=)
c.1961G= (p.Ser654=)
c.1898G= (p.Ser633=)
12g.114672112C>GCA386867951TBX3c.1901G>C (p.Ser634Thr)
c.1961G>C (p.Ser654Thr)
c.1898G>C (p.Ser633Thr)
12g.114672112C>TCA386867950TBX3c.1901G>A (p.Ser634Asn)
c.1961G>A (p.Ser654Asn)
c.1898G>A (p.Ser633Asn)
 dbSNP gnomAD v2 gnomAD v4
12g.114672113T>ACA386867955TBX3c.1900A>T (p.Ser634Cys)
c.1960A>T (p.Ser654Cys)
c.1897A>T (p.Ser633Cys)
12g.114672113T>CCA386867953TBX3c.1900A>G (p.Ser634Gly)
c.1960A>G (p.Ser654Gly)
c.1897A>G (p.Ser633Gly)
 dbSNP
12g.114672113T>GCA386867954TBX3c.1900A>C (p.Ser634Arg)
c.1960A>C (p.Ser654Arg)
c.1897A>C (p.Ser633Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.114672113T=CA2064762080TBX3c.1900A= (p.Ser634=)
c.1960A= (p.Ser654=)
c.1897A= (p.Ser633=)
12g.114672114G>ACA6809826TBX3c.1899C>T (p.Ser633=)
c.1959C>T (p.Ser653=)
c.1896C>T (p.Ser632=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672114G>CCA386867956TBX3c.1899C>G (p.Ser633Arg)
c.1959C>G (p.Ser653Arg)
c.1896C>G (p.Ser632Arg)
 gnomAD v4
12g.114672114G=CA2064762084TBX3c.1899C= (p.Ser633=)
c.1959C= (p.Ser653=)
c.1896C= (p.Ser632=)
12g.114672114G>TCA386867957TBX3c.1899C>A (p.Ser633Arg)
c.1959C>A (p.Ser653Arg)
c.1896C>A (p.Ser632Arg)
 gnomAD v4
12g.114672115C>ACA386867960TBX3c.1898G>T (p.Ser633Ile)
c.1958G>T (p.Ser653Ile)
c.1895G>T (p.Ser632Ile)
 gnomAD v4
12g.114672115C=CA2064762089TBX3c.1898G= (p.Ser633=)
c.1958G= (p.Ser653=)
c.1895G= (p.Ser632=)
12g.114672115C>GCA386867959TBX3c.1898G>C (p.Ser633Thr)
c.1958G>C (p.Ser653Thr)
c.1895G>C (p.Ser632Thr)
12g.114672115C>TCA386867958TBX3c.1898G>A (p.Ser633Asn)
c.1958G>A (p.Ser653Asn)
c.1895G>A (p.Ser632Asn)
 dbSNP gnomAD v2 gnomAD v4
12g.114672116T>ACA386867961TBX3c.1897A>T (p.Ser633Cys)
c.1957A>T (p.Ser653Cys)
c.1894A>T (p.Ser632Cys)
12g.114672116T>CCA386867962TBX3c.1897A>G (p.Ser633Gly)
c.1957A>G (p.Ser653Gly)
c.1894A>G (p.Ser632Gly)
12g.114672116T>GCA386867963TBX3c.1897A>C (p.Ser633Arg)
c.1957A>C (p.Ser653Arg)
c.1894A>C (p.Ser632Arg)
12g.114672117G>ACA482135698TBX3c.1896C>T (p.Gly632=)
c.1956C>T (p.Gly652=)
c.1893C>T (p.Gly631=)
 dbSNP gnomAD v4
12g.114672117G>CCA482135699TBX3c.1896C>G (p.Gly632=)
c.1956C>G (p.Gly652=)
c.1893C>G (p.Gly631=)
 gnomAD v4
12g.114672117G=CA2064762093TBX3c.1896C= (p.Gly632=)
c.1956C= (p.Gly652=)
c.1893C= (p.Gly631=)
12g.114672117G>TCA482135697TBX3c.1896C>A (p.Gly632=)
c.1956C>A (p.Gly652=)
c.1893C>A (p.Gly631=)
 gnomAD v4
12g.114672118C>ACA386867964TBX3c.1895G>T (p.Gly632Val)
c.1955G>T (p.Gly652Val)
c.1892G>T (p.Gly631Val)
 gnomAD v4
12g.114672118C=CA2064762098TBX3c.1895G= (p.Gly632=)
c.1955G= (p.Gly652=)
c.1892G= (p.Gly631=)
12g.114672118C>GCA386867965TBX3c.1895G>C (p.Gly632Ala)
c.1955G>C (p.Gly652Ala)
c.1892G>C (p.Gly631Ala)
12g.114672118C>TCA386867966TBX3c.1895G>A (p.Gly632Asp)
c.1955G>A (p.Gly652Asp)
c.1892G>A (p.Gly631Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672119C>ACA6809827TBX3c.1894G>T (p.Gly632Cys)
c.1954G>T (p.Gly652Cys)
c.1891G>T (p.Gly631Cys)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.114672119C=CA2064762104TBX3c.1894G= (p.Gly632=)
c.1954G= (p.Gly652=)
c.1891G= (p.Gly631=)
12g.114672119C>GCA386867968TBX3c.1894G>C (p.Gly632Arg)
c.1954G>C (p.Gly652Arg)
c.1891G>C (p.Gly631Arg)
 dbSNP gnomAD v3 gnomAD v4
12g.114672119C>TCA386867967TBX3c.1894G>A (p.Gly632Ser)
c.1954G>A (p.Gly652Ser)
c.1891G>A (p.Gly631Ser)
 ClinVar dbSNP gnomAD v4
12g.114672120G>ACA482135700TBX3c.1893C>T (p.Asp631=)
c.1953C>T (p.Asp651=)
c.1890C>T (p.Asp630=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672120G>CCA6809828TBX3c.1893C>G (p.Asp631Glu)
c.1953C>G (p.Asp651Glu)
c.1890C>G (p.Asp630Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672120G=CA2064762107TBX3c.1893C= (p.Asp631=)
c.1953C= (p.Asp651=)
c.1890C= (p.Asp630=)
12g.114672120G>TCA386867969TBX3c.1893C>A (p.Asp631Glu)
c.1953C>A (p.Asp651Glu)
c.1890C>A (p.Asp630Glu)
 gnomAD v4
12g.114672121T>ACA386867970TBX3c.1892A>T (p.Asp631Val)
c.1952A>T (p.Asp651Val)
c.1889A>T (p.Asp630Val)
 dbSNP
12g.114672121T>CCA386867971TBX3c.1892A>G (p.Asp631Gly)
c.1952A>G (p.Asp651Gly)
c.1889A>G (p.Asp630Gly)
 gnomAD v4
12g.114672121T>GCA386867972TBX3c.1892A>C (p.Asp631Ala)
c.1952A>C (p.Asp651Ala)
c.1889A>C (p.Asp630Ala)
12g.114672121T=CA2064762112TBX3c.1892A= (p.Asp631=)
c.1952A= (p.Asp651=)
c.1889A= (p.Asp630=)
12g.114672122C>ACA386867973TBX3c.1891G>T (p.Asp631Tyr)
c.1951G>T (p.Asp651Tyr)
c.1888G>T (p.Asp630Tyr)
 gnomAD v4
12g.114672122C=CA2064762115TBX3c.1891G= (p.Asp631=)
c.1951G= (p.Asp651=)
c.1888G= (p.Asp630=)
12g.114672122C>GCA386867974TBX3c.1891G>C (p.Asp631His)
c.1951G>C (p.Asp651His)
c.1888G>C (p.Asp630His)
 dbSNP
12g.114672122C>TCA386867975TBX3c.1891G>A (p.Asp631Asn)
c.1951G>A (p.Asp651Asn)
c.1888G>A (p.Asp630Asn)
 gnomAD v4
12g.114672126_114672131dupCA952072848TBX3c.1886_1891dup (p.Pro630_Asp631insValPro)
c.1946_1951dup (p.Pro650_Asp651insValPro)
c.1883_1888dup (p.Pro629_Asp630insValPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.114672123C>ACA482135703TBX3c.1890G>T (p.Pro630=)
c.1950G>T (p.Pro650=)
c.1887G>T (p.Pro629=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672123C=CA2064762119TBX3c.1890G= (p.Pro630=)
c.1950G= (p.Pro650=)
c.1887G= (p.Pro629=)
12g.114672123C>GCA482135704TBX3c.1890G>C (p.Pro630=)
c.1950G>C (p.Pro650=)
c.1887G>C (p.Pro629=)
 dbSNP
12g.114672123C>TCA6809829TBX3c.1890G>A (p.Pro630=)
c.1950G>A (p.Pro650=)
c.1887G>A (p.Pro629=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672124G>ACA386867976TBX3c.1889C>T (p.Pro630Leu)
c.1949C>T (p.Pro650Leu)
c.1886C>T (p.Pro629Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.114672124G>CCA386867977TBX3c.1889C>G (p.Pro630Arg)
c.1949C>G (p.Pro650Arg)
c.1886C>G (p.Pro629Arg)
12g.114672124G=CA2064762125TBX3c.1889C= (p.Pro630=)
c.1949C= (p.Pro650=)
c.1886C= (p.Pro629=)
12g.114672124G>TCA386867978TBX3c.1889C>A (p.Pro630Gln)
c.1949C>A (p.Pro650Gln)
c.1886C>A (p.Pro629Gln)
 gnomAD v4 COSMIC
12g.114672125G>ACA386867981TBX3c.1888C>T (p.Pro630Ser)
c.1948C>T (p.Pro650Ser)
c.1885C>T (p.Pro629Ser)
 gnomAD v4
12g.114672125G>CCA386867980TBX3c.1888C>G (p.Pro630Ala)
c.1948C>G (p.Pro650Ala)
c.1885C>G (p.Pro629Ala)
12g.114672125G>TCA386867979TBX3c.1888C>A (p.Pro630Thr)
c.1948C>A (p.Pro650Thr)
c.1885C>A (p.Pro629Thr)

Number of alleles fetched