Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.114672007_114672022delinsCCCGAGTCCACTGCCA | CA2064761851 | TBX3 | c.1991_2006delinsTGGCAGTGGACTCGGG (p.Val664=) c.2051_2066delinsTGGCAGTGGACTCGGG (p.Val684=) c.1988_2003delinsTGGCAGTGGACTCGGG (p.Val663=) | |
12 | g.114672013_114672027del | CA608055447 | TBX3 | c.1991_2005del (p.Val664_Ser668del) c.2051_2065del (p.Val684_Ser688del) c.1988_2002del (p.Val663_Ser667del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672021C>A | CA482135926 | TBX3 | c.1992G>T (p.Val664=) c.2052G>T (p.Val684=) c.1989G>T (p.Val663=) | |
12 | g.114672021C>G | CA482135928 | TBX3 | c.1992G>C (p.Val664=) c.2052G>C (p.Val684=) c.1989G>C (p.Val663=) | |
12 | g.114672021C>T | CA482135927 | TBX3 | c.1992G>A (p.Val664=) c.2052G>A (p.Val684=) c.1989G>A (p.Val663=) | dbSNP |
12 | g.114672022A>C | CA386867778 | TBX3 | c.1991T>G (p.Val664Gly) c.2051T>G (p.Val684Gly) c.1988T>G (p.Val663Gly) | dbSNP |
12 | g.114672022A>G | CA386867779 | TBX3 | c.1991T>C (p.Val664Ala) c.2051T>C (p.Val684Ala) c.1988T>C (p.Val663Ala) | |
12 | g.114672022A>T | CA386867780 | TBX3 | c.1991T>A (p.Val664Glu) c.2051T>A (p.Val684Glu) c.1988T>A (p.Val663Glu) | |
12 | g.114672023C>A | CA386867781 | TBX3 | c.1990G>T (p.Val664Leu) c.2050G>T (p.Val684Leu) c.1987G>T (p.Val663Leu) | |
12 | g.114672023C>G | CA386867783 | TBX3 | c.1990G>C (p.Val664Leu) c.2050G>C (p.Val684Leu) c.1987G>C (p.Val663Leu) | |
12 | g.114672023C>T | CA386867782 | TBX3 | c.1990G>A (p.Val664Met) c.2050G>A (p.Val684Met) c.1987G>A (p.Val663Met) | gnomAD v4 |
12 | g.114672024C>A | CA482135929 | TBX3 | c.1989G>T (p.Ser663=) c.2049G>T (p.Ser683=) c.1986G>T (p.Ser662=) | gnomAD v4 |
12 | g.114672024C= | CA2064761867 | TBX3 | c.1989G= (p.Ser663=) c.2049G= (p.Ser683=) c.1986G= (p.Ser662=) | |
12 | g.114672024C>G | CA482135930 | TBX3 | c.1989G>C (p.Ser663=) c.2049G>C (p.Ser683=) c.1986G>C (p.Ser662=) | dbSNP |
12 | g.114672024C>T | CA6809806 | TBX3 | c.1989G>A (p.Ser663=) c.2049G>A (p.Ser683=) c.1986G>A (p.Ser662=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672025G>A | CA386867784 | TBX3 | c.1988C>T (p.Ser663Leu) c.2048C>T (p.Ser683Leu) c.1985C>T (p.Ser662Leu) | gnomAD v4 |
12 | g.114672025G>C | CA386867785 | TBX3 | c.1988C>G (p.Ser663Trp) c.2048C>G (p.Ser683Trp) c.1985C>G (p.Ser662Trp) | dbSNP |
12 | g.114672025G>T | CA386867786 | TBX3 | c.1988C>A (p.Ser663Ter) c.2048C>A (p.Ser683Ter) c.1985C>A (p.Ser662Ter) | gnomAD v4 |
12 | g.114672026A>C | CA386867787 | TBX3 | c.1987T>G (p.Ser663Ala) c.2047T>G (p.Ser683Ala) c.1984T>G (p.Ser662Ala) | gnomAD v4 |
12 | g.114672026A>G | CA386867788 | TBX3 | c.1987T>C (p.Ser663Pro) c.2047T>C (p.Ser683Pro) c.1984T>C (p.Ser662Pro) | dbSNP |
12 | g.114672026A>T | CA386867789 | TBX3 | c.1987T>A (p.Ser663Thr) c.2047T>A (p.Ser683Thr) c.1984T>A (p.Ser662Thr) | gnomAD v4 |
12 | g.114672027G>A | CA482135931 | TBX3 | c.1986C>T (p.Ala662=) c.2046C>T (p.Ala682=) c.1983C>T (p.Ala661=) | dbSNP gnomAD v2 |
12 | g.114672027G>C | CA482135932 | TBX3 | c.1986C>G (p.Ala662=) c.2046C>G (p.Ala682=) c.1983C>G (p.Ala661=) | |
12 | g.114672027G= | CA2064761868 | TBX3 | c.1986C= (p.Ala662=) c.2046C= (p.Ala682=) c.1983C= (p.Ala661=) | |
12 | g.114672027G>T | CA482135933 | TBX3 | c.1986C>A (p.Ala662=) c.2046C>A (p.Ala682=) c.1983C>A (p.Ala661=) | gnomAD v4 |
12 | g.114672028G>A | CA6809807 | TBX3 | c.1985C>T (p.Ala662Val) c.2045C>T (p.Ala682Val) c.1982C>T (p.Ala661Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672028G>C | CA386867790 | TBX3 | c.1985C>G (p.Ala662Gly) c.2045C>G (p.Ala682Gly) c.1982C>G (p.Ala661Gly) | |
12 | g.114672028G= | CA2064761869 | TBX3 | c.1985C= (p.Ala662=) c.2045C= (p.Ala682=) c.1982C= (p.Ala661=) | |
12 | g.114672028G>T | CA386867791 | TBX3 | c.1985C>A (p.Ala662Asp) c.2045C>A (p.Ala682Asp) c.1982C>A (p.Ala661Asp) | dbSNP gnomAD v4 |
12 | g.114672029C>A | CA386867792 | TBX3 | c.1984G>T (p.Ala662Ser) c.2044G>T (p.Ala682Ser) c.1981G>T (p.Ala661Ser) | gnomAD v4 |
12 | g.114672029C>G | CA386867793 | TBX3 | c.1984G>C (p.Ala662Pro) c.2044G>C (p.Ala682Pro) c.1981G>C (p.Ala661Pro) | dbSNP |
12 | g.114672029C>T | CA386867794 | TBX3 | c.1984G>A (p.Ala662Thr) c.2044G>A (p.Ala682Thr) c.1981G>A (p.Ala661Thr) | |
12 | g.114672030C>A | CA482135934 | TBX3 | c.1983G>T (p.Pro661=) c.2043G>T (p.Pro681=) c.1980G>T (p.Pro660=) | |
12 | g.114672030C= | CA2064761871 | TBX3 | c.1983G= (p.Pro661=) c.2043G= (p.Pro681=) c.1980G= (p.Pro660=) | |
12 | g.114672030C>G | CA482135935 | TBX3 | c.1983G>C (p.Pro661=) c.2043G>C (p.Pro681=) c.1980G>C (p.Pro660=) | dbSNP |
12 | g.114672030C>T | CA482135936 | TBX3 | c.1983G>A (p.Pro661=) c.2043G>A (p.Pro681=) c.1980G>A (p.Pro660=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114672031G>A | CA6809808 | TBX3 | c.1982C>T (p.Pro661Leu) c.2042C>T (p.Pro681Leu) c.1979C>T (p.Pro660Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672031G>C | CA386867795 | TBX3 | c.1982C>G (p.Pro661Arg) c.2042C>G (p.Pro681Arg) c.1979C>G (p.Pro660Arg) | |
12 | g.114672031G= | CA2064761875 | TBX3 | c.1982C= (p.Pro661=) c.2042C= (p.Pro681=) c.1979C= (p.Pro660=) | |
12 | g.114672031G>T | CA386867796 | TBX3 | c.1982C>A (p.Pro661Gln) c.2042C>A (p.Pro681Gln) c.1979C>A (p.Pro660Gln) | gnomAD v4 |
12 | g.114672032G>A | CA386867797 | TBX3 | c.1981C>T (p.Pro661Ser) c.2041C>T (p.Pro681Ser) c.1978C>T (p.Pro660Ser) | gnomAD v4 |
12 | g.114672032G>C | CA386867798 | TBX3 | c.1981C>G (p.Pro661Ala) c.2041C>G (p.Pro681Ala) c.1978C>G (p.Pro660Ala) | |
12 | g.114672032G>T | CA386867799 | TBX3 | c.1981C>A (p.Pro661Thr) c.2041C>A (p.Pro681Thr) c.1978C>A (p.Pro660Thr) | gnomAD v4 |
12 | g.114672033G>A | CA482135937 | TBX3 | c.1980C>T (p.Ser660=) c.2040C>T (p.Ser680=) c.1977C>T (p.Ser659=) | dbSNP gnomAD v4 |
12 | g.114672033G>C | CA386867800 | TBX3 | c.1980C>G (p.Ser660Arg) c.2040C>G (p.Ser680Arg) c.1977C>G (p.Ser659Arg) | |
12 | g.114672033G>T | CA386867801 | TBX3 | c.1980C>A (p.Ser660Arg) c.2040C>A (p.Ser680Arg) c.1977C>A (p.Ser659Arg) | gnomAD v4 |
12 | g.114672034C>A | CA386867802 | TBX3 | c.1979G>T (p.Ser660Ile) c.2039G>T (p.Ser680Ile) c.1976G>T (p.Ser659Ile) | gnomAD v4 |
12 | g.114672034C>G | CA386867803 | TBX3 | c.1979G>C (p.Ser660Thr) c.2039G>C (p.Ser680Thr) c.1976G>C (p.Ser659Thr) | gnomAD v4 |
12 | g.114672034C>T | CA386867804 | TBX3 | c.1979G>A (p.Ser660Asn) c.2039G>A (p.Ser680Asn) c.1976G>A (p.Ser659Asn) | gnomAD v4 |
12 | g.114672035T>A | CA386867805 | TBX3 | c.1978A>T (p.Ser660Cys) c.2038A>T (p.Ser680Cys) c.1975A>T (p.Ser659Cys) | dbSNP |
12 | g.114672035T>C | CA386867806 | TBX3 | c.1978A>G (p.Ser660Gly) c.2038A>G (p.Ser680Gly) c.1975A>G (p.Ser659Gly) | dbSNP gnomAD v4 |
12 | g.114672035T>G | CA386867807 | TBX3 | c.1978A>C (p.Ser660Arg) c.2038A>C (p.Ser680Arg) c.1975A>C (p.Ser659Arg) | dbSNP |
12 | g.114672035T= | CA2064761879 | TBX3 | c.1978A= (p.Ser660=) c.2038A= (p.Ser680=) c.1975A= (p.Ser659=) | |
12 | g.114672036G>A | CA6809809 | TBX3 | c.1977C>T (p.Ala659=) c.2037C>T (p.Ala679=) c.1974C>T (p.Ala658=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672036G>C | CA482135938 | TBX3 | c.1977C>G (p.Ala659=) c.2037C>G (p.Ala679=) c.1974C>G (p.Ala658=) | |
12 | g.114672036G= | CA2064761882 | TBX3 | c.1977C= (p.Ala659=) c.2037C= (p.Ala679=) c.1974C= (p.Ala658=) | |
12 | g.114672036G>T | CA482135939 | TBX3 | c.1977C>A (p.Ala659=) c.2037C>A (p.Ala679=) c.1974C>A (p.Ala658=) | gnomAD v4 |
12 | g.114672037G>A | CA386867810 | TBX3 | c.1976C>T (p.Ala659Val) c.2036C>T (p.Ala679Val) c.1973C>T (p.Ala658Val) | |
12 | g.114672037G>C | CA386867809 | TBX3 | c.1976C>G (p.Ala659Gly) c.2036C>G (p.Ala679Gly) c.1973C>G (p.Ala658Gly) | |
12 | g.114672037G>T | CA386867808 | TBX3 | c.1976C>A (p.Ala659Asp) c.2036C>A (p.Ala679Asp) c.1973C>A (p.Ala658Asp) | ClinVar gnomAD v4 |
12 | g.114672038C>A | CA386867812 | TBX3 | c.1975G>T (p.Ala659Ser) c.2035G>T (p.Ala679Ser) c.1972G>T (p.Ala658Ser) | dbSNP gnomAD v4 |
12 | g.114672038C= | CA2064761884 | TBX3 | c.1975G= (p.Ala659=) c.2035G= (p.Ala679=) c.1972G= (p.Ala658=) | |
12 | g.114672038C>G | CA386867811 | TBX3 | c.1975G>C (p.Ala659Pro) c.2035G>C (p.Ala679Pro) c.1972G>C (p.Ala658Pro) | dbSNP COSMIC |
12 | g.114672038C>T | CA244141519 | TBX3 | c.1975G>A (p.Ala659Thr) c.2035G>A (p.Ala679Thr) c.1972G>A (p.Ala658Thr) | dbSNP gnomAD v4 COSMIC |
12 | g.114672039G>A | CA6809810 | TBX3 | c.1974C>T (p.Ala658=) c.2034C>T (p.Ala678=) c.1971C>T (p.Ala657=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672039G>C | CA482135940 | TBX3 | c.1974C>G (p.Ala658=) c.2034C>G (p.Ala678=) c.1971C>G (p.Ala657=) | |
12 | g.114672039G= | CA2064761887 | TBX3 | c.1974C= (p.Ala658=) c.2034C= (p.Ala678=) c.1971C= (p.Ala657=) | |
12 | g.114672039G>T | CA482135941 | TBX3 | c.1974C>A (p.Ala658=) c.2034C>A (p.Ala678=) c.1971C>A (p.Ala657=) | dbSNP gnomAD v2 |
12 | g.114672040G>A | CA386867814 | TBX3 | c.1973C>T (p.Ala658Val) c.2033C>T (p.Ala678Val) c.1970C>T (p.Ala657Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672040G>C | CA386867813 | TBX3 | c.1973C>G (p.Ala658Gly) c.2033C>G (p.Ala678Gly) c.1970C>G (p.Ala657Gly) | |
12 | g.114672040G= | CA2064761897 | TBX3 | c.1973C= (p.Ala658=) c.2033C= (p.Ala678=) c.1970C= (p.Ala657=) | |
12 | g.114672040G>T | CA386867815 | TBX3 | c.1973C>A (p.Ala658Asp) c.2033C>A (p.Ala678Asp) c.1970C>A (p.Ala657Asp) | |
12 | g.114672041C>A | CA386867816 | TBX3 | c.1972G>T (p.Ala658Ser) c.2032G>T (p.Ala678Ser) c.1969G>T (p.Ala657Ser) | |
12 | g.114672041C>G | CA386867817 | TBX3 | c.1972G>C (p.Ala658Pro) c.2032G>C (p.Ala678Pro) c.1969G>C (p.Ala657Pro) | dbSNP |
12 | g.114672041C>T | CA386867818 | TBX3 | c.1972G>A (p.Ala658Thr) c.2032G>A (p.Ala678Thr) c.1969G>A (p.Ala657Thr) | dbSNP gnomAD v4 |
12 | g.114672042C>A | CA482135942 | TBX3 | c.1971G>T (p.Leu657=) c.2031G>T (p.Leu677=) c.1968G>T (p.Leu656=) | |
12 | g.114672042C= | CA2064761901 | TBX3 | c.1971G= (p.Leu657=) c.2031G= (p.Leu677=) c.1968G= (p.Leu656=) | |
12 | g.114672042C>G | CA482135943 | TBX3 | c.1971G>C (p.Leu657=) c.2031G>C (p.Leu677=) c.1968G>C (p.Leu656=) | dbSNP |
12 | g.114672042C>T | CA6809811 | TBX3 | c.1971G>A (p.Leu657=) c.2031G>A (p.Leu677=) c.1968G>A (p.Leu656=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672043A>C | CA386867819 | TBX3 | c.1970T>G (p.Leu657Arg) c.2030T>G (p.Leu677Arg) c.1967T>G (p.Leu656Arg) | |
12 | g.114672043A>G | CA386867820 | TBX3 | c.1970T>C (p.Leu657Pro) c.2030T>C (p.Leu677Pro) c.1967T>C (p.Leu656Pro) | dbSNP |
12 | g.114672043A>T | CA386867821 | TBX3 | c.1970T>A (p.Leu657Gln) c.2030T>A (p.Leu677Gln) c.1967T>A (p.Leu656Gln) | |
12 | g.114672044G>A | CA482135944 | TBX3 | c.1969C>T (p.Leu657=) c.2029C>T (p.Leu677=) c.1966C>T (p.Leu656=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.114672044G>C | CA386867822 | TBX3 | c.1969C>G (p.Leu657Val) c.2029C>G (p.Leu677Val) c.1966C>G (p.Leu656Val) | ClinVar |
12 | g.114672044G= | CA2064761909 | TBX3 | c.1969C= (p.Leu657=) c.2029C= (p.Leu677=) c.1966C= (p.Leu656=) | |
12 | g.114672044G>T | CA386867823 | TBX3 | c.1969C>A (p.Leu657Met) c.2029C>A (p.Leu677Met) c.1966C>A (p.Leu656Met) | |
12 | g.114672045G>A | CA482135947 | TBX3 | c.1968C>T (p.Ala656=) c.2028C>T (p.Ala676=) c.1965C>T (p.Ala655=) | gnomAD v4 |
12 | g.114672045G>C | CA482135946 | TBX3 | c.1968C>G (p.Ala656=) c.2028C>G (p.Ala676=) c.1965C>G (p.Ala655=) | |
12 | g.114672045G>T | CA482135945 | TBX3 | c.1968C>A (p.Ala656=) c.2028C>A (p.Ala676=) c.1965C>A (p.Ala655=) | |
12 | g.114672046G>A | CA386867824 | TBX3 | c.1967C>T (p.Ala656Val) c.2027C>T (p.Ala676Val) c.1964C>T (p.Ala655Val) | |
12 | g.114672046G>C | CA386867825 | TBX3 | c.1967C>G (p.Ala656Gly) c.2027C>G (p.Ala676Gly) c.1964C>G (p.Ala655Gly) | |
12 | g.114672046G>T | CA386867826 | TBX3 | c.1967C>A (p.Ala656Asp) c.2027C>A (p.Ala676Asp) c.1964C>A (p.Ala655Asp) | |
12 | g.114672047C>A | CA244141521 | TBX3 | c.1966G>T (p.Ala656Ser) c.2026G>T (p.Ala676Ser) c.1963G>T (p.Ala655Ser) | dbSNP gnomAD v4 |
12 | g.114672047C= | CA2064761914 | TBX3 | c.1966G= (p.Ala656=) c.2026G= (p.Ala676=) c.1963G= (p.Ala655=) | |
12 | g.114672047C>G | CA386867827 | TBX3 | c.1966G>C (p.Ala656Pro) c.2026G>C (p.Ala676Pro) c.1963G>C (p.Ala655Pro) | dbSNP |
12 | g.114672047C>T | CA386867828 | TBX3 | c.1966G>A (p.Ala656Thr) c.2026G>A (p.Ala676Thr) c.1963G>A (p.Ala655Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.114672048G>A | CA6809812 | TBX3 | c.1965C>T (p.Ala655=) c.2025C>T (p.Ala675=) c.1962C>T (p.Ala654=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672048G>C | CA482135949 | TBX3 | c.1965C>G (p.Ala655=) c.2025C>G (p.Ala675=) c.1962C>G (p.Ala654=) | dbSNP |
12 | g.114672048G= | CA2064761916 | TBX3 | c.1965C= (p.Ala655=) c.2025C= (p.Ala675=) c.1962C= (p.Ala654=) | |
12 | g.114672048G>T | CA482135948 | TBX3 | c.1965C>A (p.Ala655=) c.2025C>A (p.Ala675=) c.1962C>A (p.Ala654=) | |
12 | g.114672049G>A | CA386867829 | TBX3 | c.1964C>T (p.Ala655Val) c.2024C>T (p.Ala675Val) c.1961C>T (p.Ala654Val) | dbSNP |
12 | g.114672049G>C | CA386867830 | TBX3 | c.1964C>G (p.Ala655Gly) c.2024C>G (p.Ala675Gly) c.1961C>G (p.Ala654Gly) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672049G= | CA2064761921 | TBX3 | c.1964C= (p.Ala655=) c.2024C= (p.Ala675=) c.1961C= (p.Ala654=) | |
12 | g.114672049G>T | CA386867831 | TBX3 | c.1964C>A (p.Ala655Asp) c.2024C>A (p.Ala675Asp) c.1961C>A (p.Ala654Asp) | gnomAD v4 |
12 | g.114672050C>A | CA386867832 | TBX3 | c.1963G>T (p.Ala655Ser) c.2023G>T (p.Ala675Ser) c.1960G>T (p.Ala654Ser) | dbSNP gnomAD v4 |
12 | g.114672050C= | CA2064761923 | TBX3 | c.1963G= (p.Ala655=) c.2023G= (p.Ala675=) c.1960G= (p.Ala654=) | |
12 | g.114672050C>G | CA386867833 | TBX3 | c.1963G>C (p.Ala655Pro) c.2023G>C (p.Ala675Pro) c.1960G>C (p.Ala654Pro) | dbSNP |
12 | g.114672050C>T | CA6809813 | TBX3 | c.1963G>A (p.Ala655Thr) c.2023G>A (p.Ala675Thr) c.1960G>A (p.Ala654Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672051G>A | CA6809814 | TBX3 | c.1962C>T (p.Val654=) c.2022C>T (p.Val674=) c.1959C>T (p.Val653=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.114672051G>C | CA482135950 | TBX3 | c.1962C>G (p.Val654=) c.2022C>G (p.Val674=) c.1959C>G (p.Val653=) | |
12 | g.114672051G= | CA2064761924 | TBX3 | c.1962C= (p.Val654=) c.2022C= (p.Val674=) c.1959C= (p.Val653=) | |
12 | g.114672051G>T | CA482135951 | TBX3 | c.1962C>A (p.Val654=) c.2022C>A (p.Val674=) c.1959C>A (p.Val653=) | gnomAD v4 |
12 | g.114672052A>C | CA386867834 | TBX3 | c.1961T>G (p.Val654Gly) c.2021T>G (p.Val674Gly) c.1958T>G (p.Val653Gly) | dbSNP |
12 | g.114672052A>G | CA386867835 | TBX3 | c.1961T>C (p.Val654Ala) c.2021T>C (p.Val674Ala) c.1958T>C (p.Val653Ala) | |
12 | g.114672052A>T | CA386867836 | TBX3 | c.1961T>A (p.Val654Asp) c.2021T>A (p.Val674Asp) c.1958T>A (p.Val653Asp) | dbSNP gnomAD v4 |
12 | g.114672053C>A | CA386867839 | TBX3 | c.1960G>T (p.Val654Phe) c.2020G>T (p.Val674Phe) c.1957G>T (p.Val653Phe) | |
12 | g.114672053C>G | CA386867838 | TBX3 | c.1960G>C (p.Val654Leu) c.2020G>C (p.Val674Leu) c.1957G>C (p.Val653Leu) | dbSNP |
12 | g.114672053C>T | CA386867837 | TBX3 | c.1960G>A (p.Val654Ile) c.2020G>A (p.Val674Ile) c.1957G>A (p.Val653Ile) | dbSNP |
12 | g.114672054T>A | CA386867840 | TBX3 | c.1959A>T (p.Lys653Asn) c.2019A>T (p.Lys673Asn) c.1956A>T (p.Lys652Asn) | gnomAD v4 |
12 | g.114672054T>C | CA482135952 | TBX3 | c.1959A>G (p.Lys653=) c.2019A>G (p.Lys673=) c.1956A>G (p.Lys652=) | gnomAD v4 |
12 | g.114672054T>G | CA386867841 | TBX3 | c.1959A>C (p.Lys653Asn) c.2019A>C (p.Lys673Asn) c.1956A>C (p.Lys652Asn) | |
12 | g.114672055T>A | CA386867842 | TBX3 | c.1958A>T (p.Lys653Ile) c.2018A>T (p.Lys673Ile) c.1955A>T (p.Lys652Ile) | |
12 | g.114672055T>C | CA386867843 | TBX3 | c.1958A>G (p.Lys653Arg) c.2018A>G (p.Lys673Arg) c.1955A>G (p.Lys652Arg) | COSMIC |
12 | g.114672055T>G | CA386867844 | TBX3 | c.1958A>C (p.Lys653Thr) c.2018A>C (p.Lys673Thr) c.1955A>C (p.Lys652Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.114672055T= | CA2064761929 | TBX3 | c.1958A= (p.Lys653=) c.2018A= (p.Lys673=) c.1955A= (p.Lys652=) | |
12 | g.114672056T>A | CA386867845 | TBX3 | c.1957A>T (p.Lys653Ter) c.2017A>T (p.Lys673Ter) c.1954A>T (p.Lys652Ter) | |
12 | g.114672056T>C | CA386867846 | TBX3 | c.1957A>G (p.Lys653Glu) c.2017A>G (p.Lys673Glu) c.1954A>G (p.Lys652Glu) | |
12 | g.114672056T>G | CA386867847 | TBX3 | c.1957A>C (p.Lys653Gln) c.2017A>C (p.Lys673Gln) c.1954A>C (p.Lys652Gln) | |
12 | g.114672057G>A | CA482135953 | TBX3 | c.1956C>T (p.Gly652=) c.2016C>T (p.Gly672=) c.1953C>T (p.Gly651=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672057G>C | CA482135954 | TBX3 | c.1956C>G (p.Gly652=) c.2016C>G (p.Gly672=) c.1953C>G (p.Gly651=) | dbSNP |
12 | g.114672057G= | CA2064761933 | TBX3 | c.1956C= (p.Gly652=) c.2016C= (p.Gly672=) c.1953C= (p.Gly651=) | |
12 | g.114672057G>T | CA482135955 | TBX3 | c.1956C>A (p.Gly652=) c.2016C>A (p.Gly672=) c.1953C>A (p.Gly651=) | gnomAD v4 |
12 | g.114672058C>A | CA386867848 | TBX3 | c.1955G>T (p.Gly652Val) c.2015G>T (p.Gly672Val) c.1952G>T (p.Gly651Val) | gnomAD v4 |
12 | g.114672058C>G | CA386867849 | TBX3 | c.1955G>C (p.Gly652Ala) c.2015G>C (p.Gly672Ala) c.1952G>C (p.Gly651Ala) | |
12 | g.114672058C>T | CA386867850 | TBX3 | c.1955G>A (p.Gly652Asp) c.2015G>A (p.Gly672Asp) c.1952G>A (p.Gly651Asp) | dbSNP gnomAD v4 |
12 | g.114672059C>A | CA386867851 | TBX3 | c.1954G>T (p.Gly652Cys) c.2014G>T (p.Gly672Cys) c.1951G>T (p.Gly651Cys) | gnomAD v4 |
12 | g.114672059C= | CA2064761936 | TBX3 | c.1954G= (p.Gly652=) c.2014G= (p.Gly672=) c.1951G= (p.Gly651=) | |
12 | g.114672059C>G | CA386867852 | TBX3 | c.1954G>C (p.Gly652Arg) c.2014G>C (p.Gly672Arg) c.1951G>C (p.Gly651Arg) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114672059C>T | CA386867853 | TBX3 | c.1954G>A (p.Gly652Ser) c.2014G>A (p.Gly672Ser) c.1951G>A (p.Gly651Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672060G>A | CA482135956 | TBX3 | c.1953C>T (p.Asp651=) c.2013C>T (p.Asp671=) c.1950C>T (p.Asp650=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672060G>C | CA386867854 | TBX3 | c.1953C>G (p.Asp651Glu) c.2013C>G (p.Asp671Glu) c.1950C>G (p.Asp650Glu) | |
12 | g.114672060G= | CA2064761941 | TBX3 | c.1953C= (p.Asp651=) c.2013C= (p.Asp671=) c.1950C= (p.Asp650=) | |
12 | g.114672060G>T | CA386867855 | TBX3 | c.1953C>A (p.Asp651Glu) c.2013C>A (p.Asp671Glu) c.1950C>A (p.Asp650Glu) | dbSNP gnomAD v4 |
12 | g.114672061T>A | CA386867856 | TBX3 | c.1952A>T (p.Asp651Val) c.2012A>T (p.Asp671Val) c.1949A>T (p.Asp650Val) | dbSNP |
12 | g.114672061T>C | CA386867857 | TBX3 | c.1952A>G (p.Asp651Gly) c.2012A>G (p.Asp671Gly) c.1949A>G (p.Asp650Gly) | dbSNP gnomAD v4 |
12 | g.114672061T>G | CA386867858 | TBX3 | c.1952A>C (p.Asp651Ala) c.2012A>C (p.Asp671Ala) c.1949A>C (p.Asp650Ala) | dbSNP |
12 | g.114672061T= | CA2064761943 | TBX3 | c.1952A= (p.Asp651=) c.2012A= (p.Asp671=) c.1949A= (p.Asp650=) | |
12 | g.114672062C>A | CA386867859 | TBX3 | c.1951G>T (p.Asp651Tyr) c.2011G>T (p.Asp671Tyr) c.1948G>T (p.Asp650Tyr) | gnomAD v4 |
12 | g.114672062C= | CA2064761951 | TBX3 | c.1951G= (p.Asp651=) c.2011G= (p.Asp671=) c.1948G= (p.Asp650=) | |
12 | g.114672062C>G | CA386867860 | TBX3 | c.1951G>C (p.Asp651His) c.2011G>C (p.Asp671His) c.1948G>C (p.Asp650His) | |
12 | g.114672062C>T | CA6809815 | TBX3 | c.1951G>A (p.Asp651Asn) c.2011G>A (p.Asp671Asn) c.1948G>A (p.Asp650Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672063C>A | CA482135957 | TBX3 | c.1950G>T (p.Leu650=) c.2010G>T (p.Leu670=) c.1947G>T (p.Leu649=) | |
12 | g.114672063C= | CA2064761961 | TBX3 | c.1950G= (p.Leu650=) c.2010G= (p.Leu670=) c.1947G= (p.Leu649=) | |
12 | g.114672063C>G | CA244141533 | TBX3 | c.1950G>C (p.Leu650=) c.2010G>C (p.Leu670=) c.1947G>C (p.Leu649=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672063C>T | CA482135958 | TBX3 | c.1950G>A (p.Leu650=) c.2010G>A (p.Leu670=) c.1947G>A (p.Leu649=) | |
12 | g.114672064A= | CA2064761963 | TBX3 | c.1949T= (p.Leu650=) c.2009T= (p.Leu670=) c.1946T= (p.Leu649=) | |
12 | g.114672064A>C | CA386867861 | TBX3 | c.1949T>G (p.Leu650Arg) c.2009T>G (p.Leu670Arg) c.1946T>G (p.Leu649Arg) | COSMIC |
12 | g.114672064A>G | CA386867862 | TBX3 | c.1949T>C (p.Leu650Pro) c.2009T>C (p.Leu670Pro) c.1946T>C (p.Leu649Pro) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114672064A>T | CA386867863 | TBX3 | c.1949T>A (p.Leu650Gln) c.2009T>A (p.Leu670Gln) c.1946T>A (p.Leu649Gln) | |
12 | g.114672065G>A | CA482135959 | TBX3 | c.1948C>T (p.Leu650=) c.2008C>T (p.Leu670=) c.1945C>T (p.Leu649=) | |
12 | g.114672065G>C | CA386867864 | TBX3 | c.1948C>G (p.Leu650Val) c.2008C>G (p.Leu670Val) c.1945C>G (p.Leu649Val) | |
12 | g.114672065G>T | CA386867865 | TBX3 | c.1948C>A (p.Leu650Met) c.2008C>A (p.Leu670Met) c.1945C>A (p.Leu649Met) | gnomAD v4 |
12 | g.114672066G>A | CA482135960 | TBX3 | c.1947C>T (p.Pro649=) c.2007C>T (p.Pro669=) c.1944C>T (p.Pro648=) | |
12 | g.114672066G>C | CA6809816 | TBX3 | c.1947C>G (p.Pro649=) c.2007C>G (p.Pro669=) c.1944C>G (p.Pro648=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672066G= | CA2064761965 | TBX3 | c.1947C= (p.Pro649=) c.2007C= (p.Pro669=) c.1944C= (p.Pro648=) | |
12 | g.114672066G>T | CA482135961 | TBX3 | c.1947C>A (p.Pro649=) c.2007C>A (p.Pro669=) c.1944C>A (p.Pro648=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672067G>A | CA386867867 | TBX3 | c.1946C>T (p.Pro649Leu) c.2006C>T (p.Pro669Leu) c.1943C>T (p.Pro648Leu) | gnomAD v4 |
12 | g.114672067G>C | CA386867866 | TBX3 | c.1946C>G (p.Pro649Arg) c.2006C>G (p.Pro669Arg) c.1943C>G (p.Pro648Arg) | dbSNP |
12 | g.114672067G= | CA2064761968 | TBX3 | c.1946C= (p.Pro649=) c.2006C= (p.Pro669=) c.1943C= (p.Pro648=) | |
12 | g.114672067G>T | CA244141543 | TBX3 | c.1946C>A (p.Pro649His) c.2006C>A (p.Pro669His) c.1943C>A (p.Pro648His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672068G>A | CA386867869 | TBX3 | c.1945C>T (p.Pro649Ser) c.2005C>T (p.Pro669Ser) c.1942C>T (p.Pro648Ser) | ClinVar gnomAD v4 |
12 | g.114672068G>C | CA386867868 | TBX3 | c.1945C>G (p.Pro649Ala) c.2005C>G (p.Pro669Ala) c.1942C>G (p.Pro648Ala) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114672068G= | CA2064761971 | TBX3 | c.1945C= (p.Pro649=) c.2005C= (p.Pro669=) c.1942C= (p.Pro648=) | |
12 | g.114672068G>T | CA386867870 | TBX3 | c.1945C>A (p.Pro649Thr) c.2005C>A (p.Pro669Thr) c.1942C>A (p.Pro648Thr) | gnomAD v4 |
12 | g.114672069C>A | CA482135962 | TBX3 | c.1944G>T (p.Gly648=) c.2004G>T (p.Gly668=) c.1941G>T (p.Gly647=) | gnomAD v4 |
12 | g.114672069C>G | CA482135963 | TBX3 | c.1944G>C (p.Gly648=) c.2004G>C (p.Gly668=) c.1941G>C (p.Gly647=) | |
12 | g.114672069C>T | CA482135964 | TBX3 | c.1944G>A (p.Gly648=) c.2004G>A (p.Gly668=) c.1941G>A (p.Gly647=) | ClinVar gnomAD v4 |
12 | g.114672070C>A | CA386867871 | TBX3 | c.1943G>T (p.Gly648Val) c.2003G>T (p.Gly668Val) c.1940G>T (p.Gly647Val) | |
12 | g.114672070C>G | CA386867872 | TBX3 | c.1943G>C (p.Gly648Ala) c.2003G>C (p.Gly668Ala) c.1940G>C (p.Gly647Ala) | |
12 | g.114672070C>T | CA386867873 | TBX3 | c.1943G>A (p.Gly648Glu) c.2003G>A (p.Gly668Glu) c.1940G>A (p.Gly647Glu) | |
12 | g.114672071C>A | CA386867874 | TBX3 | c.1942G>T (p.Gly648Trp) c.2002G>T (p.Gly668Trp) c.1939G>T (p.Gly647Trp) | |
12 | g.114672071C= | CA2064761975 | TBX3 | c.1942G= (p.Gly648=) c.2002G= (p.Gly668=) c.1939G= (p.Gly647=) | |
12 | g.114672071C>G | CA386867875 | TBX3 | c.1942G>C (p.Gly648Arg) c.2002G>C (p.Gly668Arg) c.1939G>C (p.Gly647Arg) | |
12 | g.114672071C>T | CA6809817 | TBX3 | c.1942G>A (p.Gly648Arg) c.2002G>A (p.Gly668Arg) c.1939G>A (p.Gly647Arg) | dbSNP ExAC gnomAD v2 |
12 | g.114672072C>A | CA482135965 | TBX3 | c.1941G>T (p.Ala647=) c.2001G>T (p.Ala667=) c.1938G>T (p.Ala646=) | dbSNP gnomAD v4 |
12 | g.114672072C= | CA2064761976 | TBX3 | c.1941G= (p.Ala647=) c.2001G= (p.Ala667=) c.1938G= (p.Ala646=) | |
12 | g.114672072C>G | CA482135966 | TBX3 | c.1941G>C (p.Ala647=) c.2001G>C (p.Ala667=) c.1938G>C (p.Ala646=) | dbSNP |
12 | g.114672072C>T | CA6809818 | TBX3 | c.1941G>A (p.Ala647=) c.2001G>A (p.Ala667=) c.1938G>A (p.Ala646=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672073G>A | CA6809820 | TBX3 | c.1940C>T (p.Ala647Val) c.2000C>T (p.Ala667Val) c.1937C>T (p.Ala646Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672073G>C | CA386867876 | TBX3 | c.1940C>G (p.Ala647Gly) c.2000C>G (p.Ala667Gly) c.1937C>G (p.Ala646Gly) | dbSNP |
12 | g.114672073G= | CA2064761979 | TBX3 | c.1940C= (p.Ala647=) c.2000C= (p.Ala667=) c.1937C= (p.Ala646=) | |
12 | g.114672073G>T | CA6809819 | TBX3 | c.1940C>A (p.Ala647Glu) c.2000C>A (p.Ala667Glu) c.1937C>A (p.Ala646Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672075_114672077dup | CA2621129658 | TBX3 | c.1938_1940dup (p.Ala647_Gly648insAla) c.1998_2000dup (p.Ala667_Gly668insAla) c.1935_1937dup (p.Ala646_Gly647insAla) | gnomAD v4 |
12 | g.114672074C>A | CA386867877 | TBX3 | c.1939G>T (p.Ala647Ser) c.1999G>T (p.Ala667Ser) c.1936G>T (p.Ala646Ser) | gnomAD v4 |
12 | g.114672074C= | CA2064761980 | TBX3 | c.1939G= (p.Ala647=) c.1999G= (p.Ala667=) c.1936G= (p.Ala646=) | |
12 | g.114672074C>G | CA386867878 | TBX3 | c.1939G>C (p.Ala647Pro) c.1999G>C (p.Ala667Pro) c.1936G>C (p.Ala646Pro) | |
12 | g.114672074C>T | CA386867879 | TBX3 | c.1939G>A (p.Ala647Thr) c.1999G>A (p.Ala667Thr) c.1936G>A (p.Ala646Thr) | dbSNP gnomAD v4 |
12 | g.114672075G>A | CA482135967 | TBX3 | c.1938C>T (p.Ala646=) c.1998C>T (p.Ala666=) c.1935C>T (p.Ala645=) | gnomAD v4 |
12 | g.114672075G>C | CA482135968 | TBX3 | c.1938C>G (p.Ala646=) c.1998C>G (p.Ala666=) c.1935C>G (p.Ala645=) | dbSNP |
12 | g.114672075G= | CA2064761982 | TBX3 | c.1938C= (p.Ala646=) c.1998C= (p.Ala666=) c.1935C= (p.Ala645=) | |
12 | g.114672075G>T | CA482135969 | TBX3 | c.1938C>A (p.Ala646=) c.1998C>A (p.Ala666=) c.1935C>A (p.Ala645=) | dbSNP |
12 | g.114672076G>A | CA244141627 | TBX3 | c.1937C>T (p.Ala646Val) c.1997C>T (p.Ala666Val) c.1934C>T (p.Ala645Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672076G>C | CA386867881 | TBX3 | c.1937C>G (p.Ala646Gly) c.1997C>G (p.Ala666Gly) c.1934C>G (p.Ala645Gly) | dbSNP gnomAD v4 |
12 | g.114672076G= | CA2064761985 | TBX3 | c.1937C= (p.Ala646=) c.1997C= (p.Ala666=) c.1934C= (p.Ala645=) | |
12 | g.114672076G>T | CA386867880 | TBX3 | c.1937C>A (p.Ala646Asp) c.1997C>A (p.Ala666Asp) c.1934C>A (p.Ala645Asp) | dbSNP |
12 | g.114672077C>A | CA386867882 | TBX3 | c.1936G>T (p.Ala646Ser) c.1996G>T (p.Ala666Ser) c.1933G>T (p.Ala645Ser) | |
12 | g.114672077C>G | CA386867883 | TBX3 | c.1936G>C (p.Ala646Pro) c.1996G>C (p.Ala666Pro) c.1933G>C (p.Ala645Pro) | dbSNP |
12 | g.114672077C>T | CA386867884 | TBX3 | c.1936G>A (p.Ala646Thr) c.1996G>A (p.Ala666Thr) c.1933G>A (p.Ala645Thr) | dbSNP |
12 | g.114672078C>A | CA482135970 | TBX3 | c.1935G>T (p.Ala645=) c.1995G>T (p.Ala665=) c.1932G>T (p.Ala644=) | dbSNP |
12 | g.114672078C= | CA2064761987 | TBX3 | c.1935G= (p.Ala645=) c.1995G= (p.Ala665=) c.1932G= (p.Ala644=) | |
12 | g.114672078C>G | CA482135971 | TBX3 | c.1935G>C (p.Ala645=) c.1995G>C (p.Ala665=) c.1932G>C (p.Ala644=) | |
12 | g.114672078C>T | CA482135972 | TBX3 | c.1935G>A (p.Ala645=) c.1995G>A (p.Ala665=) c.1932G>A (p.Ala644=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672079G>A | CA386867885 | TBX3 | c.1934C>T (p.Ala645Val) c.1994C>T (p.Ala665Val) c.1931C>T (p.Ala644Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672079G>C | CA386867886 | TBX3 | c.1934C>G (p.Ala645Gly) c.1994C>G (p.Ala665Gly) c.1931C>G (p.Ala644Gly) | dbSNP |
12 | g.114672079G= | CA2064761992 | TBX3 | c.1934C= (p.Ala645=) c.1994C= (p.Ala665=) c.1931C= (p.Ala644=) | |
12 | g.114672079G>T | CA386867887 | TBX3 | c.1934C>A (p.Ala645Glu) c.1994C>A (p.Ala665Glu) c.1931C>A (p.Ala644Glu) | dbSNP gnomAD v4 |
12 | g.114672080C>A | CA386867888 | TBX3 | c.1933G>T (p.Ala645Ser) c.1993G>T (p.Ala665Ser) c.1930G>T (p.Ala644Ser) | gnomAD v4 |
12 | g.114672080C>G | CA386867889 | TBX3 | c.1933G>C (p.Ala645Pro) c.1993G>C (p.Ala665Pro) c.1930G>C (p.Ala644Pro) | |
12 | g.114672080C>T | CA386867890 | TBX3 | c.1933G>A (p.Ala645Thr) c.1993G>A (p.Ala665Thr) c.1930G>A (p.Ala644Thr) | dbSNP |
12 | g.114672081C>A | CA482135973 | TBX3 | c.1932G>T (p.Ala644=) c.1992G>T (p.Ala664=) c.1929G>T (p.Ala643=) | |
12 | g.114672081C= | CA2064761994 | TBX3 | c.1932G= (p.Ala644=) c.1992G= (p.Ala664=) c.1929G= (p.Ala643=) | |
12 | g.114672081C>G | CA482135974 | TBX3 | c.1932G>C (p.Ala644=) c.1992G>C (p.Ala664=) c.1929G>C (p.Ala643=) | |
12 | g.114672081C>T | CA6809821 | TBX3 | c.1932G>A (p.Ala644=) c.1992G>A (p.Ala664=) c.1929G>A (p.Ala643=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.114672082G>A | CA6809822 | TBX3 | c.1931C>T (p.Ala644Val) c.1991C>T (p.Ala664Val) c.1928C>T (p.Ala643Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.114672082G>C | CA386867892 | TBX3 | c.1931C>G (p.Ala644Gly) c.1991C>G (p.Ala664Gly) c.1928C>G (p.Ala643Gly) | dbSNP |
12 | g.114672082G= | CA2064761998 | TBX3 | c.1931C= (p.Ala644=) c.1991C= (p.Ala664=) c.1928C= (p.Ala643=) | |
12 | g.114672082G>T | CA386867891 | TBX3 | c.1931C>A (p.Ala644Glu) c.1991C>A (p.Ala664Glu) c.1928C>A (p.Ala643Glu) | gnomAD v4 |
12 | g.114672083C>A | CA386867893 | TBX3 | c.1930G>T (p.Ala644Ser) c.1990G>T (p.Ala664Ser) c.1927G>T (p.Ala643Ser) | gnomAD v4 |
12 | g.114672083C>G | CA386867894 | TBX3 | c.1930G>C (p.Ala644Pro) c.1990G>C (p.Ala664Pro) c.1927G>C (p.Ala643Pro) | |
12 | g.114672083C>T | CA386867895 | TBX3 | c.1930G>A (p.Ala644Thr) c.1990G>A (p.Ala664Thr) c.1927G>A (p.Ala643Thr) | |
12 | g.114672084C>A | CA386867896 | TBX3 | c.1929G>T (p.Met643Ile) c.1989G>T (p.Met663Ile) c.1926G>T (p.Met642Ile) | gnomAD v4 |
12 | g.114672084C>G | CA386867897 | TBX3 | c.1929G>C (p.Met643Ile) c.1989G>C (p.Met663Ile) c.1926G>C (p.Met642Ile) | |
12 | g.114672084C>T | CA386867898 | TBX3 | c.1929G>A (p.Met643Ile) c.1989G>A (p.Met663Ile) c.1926G>A (p.Met642Ile) | |
12 | g.114672085A= | CA2064762002 | TBX3 | c.1928T= (p.Met643=) c.1988T= (p.Met663=) c.1925T= (p.Met642=) | |
12 | g.114672085A>C | CA386867899 | TBX3 | c.1928T>G (p.Met643Arg) c.1988T>G (p.Met663Arg) c.1925T>G (p.Met642Arg) | |
12 | g.114672085A>G | CA6809823 | TBX3 | c.1928T>C (p.Met643Thr) c.1988T>C (p.Met663Thr) c.1925T>C (p.Met642Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672085A>T | CA386867900 | TBX3 | c.1928T>A (p.Met643Lys) c.1988T>A (p.Met663Lys) c.1925T>A (p.Met642Lys) | |
12 | g.114672086T>A | CA386867901 | TBX3 | c.1927A>T (p.Met643Leu) c.1987A>T (p.Met663Leu) c.1924A>T (p.Met642Leu) | |
12 | g.114672086T>C | CA386867902 | TBX3 | c.1927A>G (p.Met643Val) c.1987A>G (p.Met663Val) c.1924A>G (p.Met642Val) | gnomAD v4 |
12 | g.114672086T>G | CA386867903 | TBX3 | c.1927A>C (p.Met643Leu) c.1987A>C (p.Met663Leu) c.1924A>C (p.Met642Leu) | |
12 | g.114672087G>A | CA482135977 | TBX3 | c.1926C>T (p.Ser642=) c.1986C>T (p.Ser662=) c.1923C>T (p.Ser641=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114672087G>C | CA482135975 | TBX3 | c.1926C>G (p.Ser642=) c.1986C>G (p.Ser662=) c.1923C>G (p.Ser641=) | |
12 | g.114672087G= | CA2064762004 | TBX3 | c.1926C= (p.Ser642=) c.1986C= (p.Ser662=) c.1923C= (p.Ser641=) | |
12 | g.114672087G>T | CA482135976 | TBX3 | c.1926C>A (p.Ser642=) c.1986C>A (p.Ser662=) c.1923C>A (p.Ser641=) | gnomAD v4 |
12 | g.114672089_114672100del | CA2621129659 | TBX3 | c.1915_1926del (p.Ala639_Ser642del) c.1975_1986del (p.Ala659_Ser662del) c.1912_1923del (p.Ala638_Ser641del) | gnomAD v4 |
12 | g.114672088G>A | CA386867905 | TBX3 | c.1925C>T (p.Ser642Phe) c.1985C>T (p.Ser662Phe) c.1922C>T (p.Ser641Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.114672088G>C | CA386867906 | TBX3 | c.1925C>G (p.Ser642Cys) c.1985C>G (p.Ser662Cys) c.1922C>G (p.Ser641Cys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672088G= | CA2064762007 | TBX3 | c.1925C= (p.Ser642=) c.1985C= (p.Ser662=) c.1922C= (p.Ser641=) | |
12 | g.114672088G>T | CA386867904 | TBX3 | c.1925C>A (p.Ser642Tyr) c.1985C>A (p.Ser662Tyr) c.1922C>A (p.Ser641Tyr) | gnomAD v4 |
12 | g.114672089A>C | CA386867907 | TBX3 | c.1924T>G (p.Ser642Ala) c.1984T>G (p.Ser662Ala) c.1921T>G (p.Ser641Ala) | |
12 | g.114672089A>G | CA386867908 | TBX3 | c.1924T>C (p.Ser642Pro) c.1984T>C (p.Ser662Pro) c.1921T>C (p.Ser641Pro) | dbSNP gnomAD v4 |
12 | g.114672089A>T | CA386867909 | TBX3 | c.1924T>A (p.Ser642Thr) c.1984T>A (p.Ser662Thr) c.1921T>A (p.Ser641Thr) | gnomAD v4 |
12 | g.114672090G>A | CA6809824 | TBX3 | c.1923C>T (p.Pro641=) c.1983C>T (p.Pro661=) c.1920C>T (p.Pro640=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672090G>C | CA482135979 | TBX3 | c.1923C>G (p.Pro641=) c.1983C>G (p.Pro661=) c.1920C>G (p.Pro640=) | |
12 | g.114672090G= | CA2064762014 | TBX3 | c.1923C= (p.Pro641=) c.1983C= (p.Pro661=) c.1920C= (p.Pro640=) | |
12 | g.114672090G>T | CA482135978 | TBX3 | c.1923C>A (p.Pro641=) c.1983C>A (p.Pro661=) c.1920C>A (p.Pro640=) | gnomAD v4 |
12 | g.114672091G>A | CA386867910 | TBX3 | c.1922C>T (p.Pro641Leu) c.1982C>T (p.Pro661Leu) c.1919C>T (p.Pro640Leu) | |
12 | g.114672091G>C | CA386867911 | TBX3 | c.1922C>G (p.Pro641Arg) c.1982C>G (p.Pro661Arg) c.1919C>G (p.Pro640Arg) | |
12 | g.114672091G= | CA2064762017 | TBX3 | c.1922C= (p.Pro641=) c.1982C= (p.Pro661=) c.1919C= (p.Pro640=) | |
12 | g.114672091G>T | CA386867912 | TBX3 | c.1922C>A (p.Pro641His) c.1982C>A (p.Pro661His) c.1919C>A (p.Pro640His) | gnomAD v4 |
12 | g.114672091_114672092insC | CA2740097577 | TBX3 | c.1921_1922insG (p.Pro641ArgfsTer?) c.1981_1982insG (p.Pro661ArgfsTer?) c.1918_1919insG (p.Pro640ArgfsTer?) | ClinVar |
12 | g.114672092G>A | CA386867913 | TBX3 | c.1921C>T (p.Pro641Ser) c.1981C>T (p.Pro661Ser) c.1918C>T (p.Pro640Ser) | dbSNP gnomAD v4 |
12 | g.114672092G>C | CA386867915 | TBX3 | c.1921C>G (p.Pro641Ala) c.1981C>G (p.Pro661Ala) c.1918C>G (p.Pro640Ala) | |
12 | g.114672092G>T | CA386867914 | TBX3 | c.1921C>A (p.Pro641Thr) c.1981C>A (p.Pro661Thr) c.1918C>A (p.Pro640Thr) | gnomAD v4 |
12 | g.114672092_114672093dup | CA891863091 | TBX3 | c.1920_1921dup (p.Pro641ArgfsTer?) c.1980_1981dup (p.Pro661ArgfsTer?) c.1917_1918dup (p.Pro640ArgfsTer?) | ClinVar dbSNP |
12 | g.114672093C>A | CA482135980 | TBX3 | c.1920G>T (p.Leu640=) c.1980G>T (p.Leu660=) c.1917G>T (p.Leu639=) | |
12 | g.114672093C= | CA2064762028 | TBX3 | c.1920G= (p.Leu640=) c.1980G= (p.Leu660=) c.1917G= (p.Leu639=) | |
12 | g.114672093C>G | CA482135981 | TBX3 | c.1920G>C (p.Leu640=) c.1980G>C (p.Leu660=) c.1917G>C (p.Leu639=) | |
12 | g.114672093C>T | CA482135982 | TBX3 | c.1920G>A (p.Leu640=) c.1980G>A (p.Leu660=) c.1917G>A (p.Leu639=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114672094A>C | CA386867916 | TBX3 | c.1919T>G (p.Leu640Arg) c.1979T>G (p.Leu660Arg) c.1916T>G (p.Leu639Arg) | |
12 | g.114672094A>G | CA386867917 | TBX3 | c.1919T>C (p.Leu640Pro) c.1979T>C (p.Leu660Pro) c.1916T>C (p.Leu639Pro) | gnomAD v4 |
12 | g.114672094A>T | CA386867918 | TBX3 | c.1919T>A (p.Leu640Gln) c.1979T>A (p.Leu660Gln) c.1916T>A (p.Leu639Gln) | |
12 | g.114672095G>A | CA482135983 | TBX3 | c.1918C>T (p.Leu640=) c.1978C>T (p.Leu660=) c.1915C>T (p.Leu639=) | dbSNP gnomAD v4 |
12 | g.114672095G>C | CA386867919 | TBX3 | c.1918C>G (p.Leu640Val) c.1978C>G (p.Leu660Val) c.1915C>G (p.Leu639Val) | dbSNP |
12 | g.114672095G>T | CA386867920 | TBX3 | c.1918C>A (p.Leu640Met) c.1978C>A (p.Leu660Met) c.1915C>A (p.Leu639Met) | gnomAD v4 |
12 | g.114672096G>A | CA482135984 | TBX3 | c.1917C>T (p.Ala639=) c.1977C>T (p.Ala659=) c.1914C>T (p.Ala638=) | gnomAD v4 |
12 | g.114672096G>C | CA482135985 | TBX3 | c.1917C>G (p.Ala639=) c.1977C>G (p.Ala659=) c.1914C>G (p.Ala638=) | |
12 | g.114672096G>T | CA482135986 | TBX3 | c.1917C>A (p.Ala639=) c.1977C>A (p.Ala659=) c.1914C>A (p.Ala638=) | gnomAD v4 |
12 | g.114672097G>A | CA386867923 | TBX3 | c.1916C>T (p.Ala639Val) c.1976C>T (p.Ala659Val) c.1913C>T (p.Ala638Val) | gnomAD v4 |
12 | g.114672097G>C | CA386867922 | TBX3 | c.1916C>G (p.Ala639Gly) c.1976C>G (p.Ala659Gly) c.1913C>G (p.Ala638Gly) | |
12 | g.114672097G>T | CA386867921 | TBX3 | c.1916C>A (p.Ala639Asp) c.1976C>A (p.Ala659Asp) c.1913C>A (p.Ala638Asp) | |
12 | g.114672098C>A | CA386867924 | TBX3 | c.1915G>T (p.Ala639Ser) c.1975G>T (p.Ala659Ser) c.1912G>T (p.Ala638Ser) | gnomAD v4 |
12 | g.114672098C= | CA2064762032 | TBX3 | c.1915G= (p.Ala639=) c.1975G= (p.Ala659=) c.1912G= (p.Ala638=) | |
12 | g.114672098C>G | CA386867926 | TBX3 | c.1915G>C (p.Ala639Pro) c.1975G>C (p.Ala659Pro) c.1912G>C (p.Ala638Pro) | dbSNP |
12 | g.114672098C>T | CA386867925 | TBX3 | c.1915G>A (p.Ala639Thr) c.1975G>A (p.Ala659Thr) c.1912G>A (p.Ala638Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672099G>A | CA482135987 | TBX3 | c.1914C>T (p.Thr638=) c.1974C>T (p.Thr658=) c.1911C>T (p.Thr637=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672099G>C | CA482135988 | TBX3 | c.1914C>G (p.Thr638=) c.1974C>G (p.Thr658=) c.1911C>G (p.Thr637=) | |
12 | g.114672099G= | CA2064762035 | TBX3 | c.1914C= (p.Thr638=) c.1974C= (p.Thr658=) c.1911C= (p.Thr637=) | |
12 | g.114672099G>T | CA482135989 | TBX3 | c.1914C>A (p.Thr638=) c.1974C>A (p.Thr658=) c.1911C>A (p.Thr637=) | gnomAD v4 |
12 | g.114672100G>A | CA386867927 | TBX3 | c.1913C>T (p.Thr638Ile) c.1973C>T (p.Thr658Ile) c.1910C>T (p.Thr637Ile) | dbSNP gnomAD v4 |
12 | g.114672100G>C | CA386867928 | TBX3 | c.1913C>G (p.Thr638Ser) c.1973C>G (p.Thr658Ser) c.1910C>G (p.Thr637Ser) | |
12 | g.114672100G= | CA2064762039 | TBX3 | c.1913C= (p.Thr638=) c.1973C= (p.Thr658=) c.1910C= (p.Thr637=) | |
12 | g.114672100G>T | CA386867929 | TBX3 | c.1913C>A (p.Thr638Asn) c.1973C>A (p.Thr658Asn) c.1910C>A (p.Thr637Asn) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672101T>A | CA386867930 | TBX3 | c.1912A>T (p.Thr638Ser) c.1972A>T (p.Thr658Ser) c.1909A>T (p.Thr637Ser) | dbSNP |
12 | g.114672101T>C | CA6809825 | TBX3 | c.1912A>G (p.Thr638Ala) c.1972A>G (p.Thr658Ala) c.1909A>G (p.Thr637Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672101T>G | CA386867931 | TBX3 | c.1912A>C (p.Thr638Pro) c.1972A>C (p.Thr658Pro) c.1909A>C (p.Thr637Pro) | dbSNP gnomAD v4 |
12 | g.114672101T= | CA2064762042 | TBX3 | c.1912A= (p.Thr638=) c.1972A= (p.Thr658=) c.1909A= (p.Thr637=) | |
12 | g.114672102G>A | CA482135991 | TBX3 | c.1911C>T (p.Thr637=) c.1971C>T (p.Thr657=) c.1908C>T (p.Thr636=) | dbSNP gnomAD v4 |
12 | g.114672102G>C | CA482135992 | TBX3 | c.1911C>G (p.Thr637=) c.1971C>G (p.Thr657=) c.1908C>G (p.Thr636=) | |
12 | g.114672102G= | CA2064762044 | TBX3 | c.1911C= (p.Thr637=) c.1971C= (p.Thr657=) c.1908C= (p.Thr636=) | |
12 | g.114672102G>T | CA482135993 | TBX3 | c.1911C>A (p.Thr637=) c.1971C>A (p.Thr657=) c.1908C>A (p.Thr636=) | gnomAD v4 |
12 | g.114672103G>A | CA386867932 | TBX3 | c.1910C>T (p.Thr637Ile) c.1970C>T (p.Thr657Ile) c.1907C>T (p.Thr636Ile) | |
12 | g.114672103G>C | CA386867933 | TBX3 | c.1910C>G (p.Thr637Ser) c.1970C>G (p.Thr657Ser) c.1907C>G (p.Thr636Ser) | |
12 | g.114672103G>T | CA386867934 | TBX3 | c.1910C>A (p.Thr637Asn) c.1970C>A (p.Thr657Asn) c.1907C>A (p.Thr636Asn) | COSMIC |
12 | g.114672104T>A | CA386867935 | TBX3 | c.1909A>T (p.Thr637Ser) c.1969A>T (p.Thr657Ser) c.1906A>T (p.Thr636Ser) | |
12 | g.114672104T>C | CA386867936 | TBX3 | c.1909A>G (p.Thr637Ala) c.1969A>G (p.Thr657Ala) c.1906A>G (p.Thr636Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.114672104T>G | CA386867937 | TBX3 | c.1909A>C (p.Thr637Pro) c.1969A>C (p.Thr657Pro) c.1906A>C (p.Thr636Pro) | |
12 | g.114672104T= | CA2064762049 | TBX3 | c.1909A= (p.Thr637=) c.1969A= (p.Thr657=) c.1906A= (p.Thr636=) | |
12 | g.114672105G>A | CA244141654 | TBX3 | c.1908C>T (p.Leu636=) c.1968C>T (p.Leu656=) c.1905C>T (p.Leu635=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672105G>C | CA482135998 | TBX3 | c.1908C>G (p.Leu636=) c.1968C>G (p.Leu656=) c.1905C>G (p.Leu635=) | |
12 | g.114672105G= | CA2064762054 | TBX3 | c.1908C= (p.Leu636=) c.1968C= (p.Leu656=) c.1905C= (p.Leu635=) | |
12 | g.114672105G>T | CA482135997 | TBX3 | c.1908C>A (p.Leu636=) c.1968C>A (p.Leu656=) c.1905C>A (p.Leu635=) | gnomAD v4 |
12 | g.114672106A>C | CA386867940 | TBX3 | c.1907T>G (p.Leu636Arg) c.1967T>G (p.Leu656Arg) c.1904T>G (p.Leu635Arg) | |
12 | g.114672106A>G | CA386867938 | TBX3 | c.1907T>C (p.Leu636Pro) c.1967T>C (p.Leu656Pro) c.1904T>C (p.Leu635Pro) | gnomAD v4 |
12 | g.114672106A>T | CA386867939 | TBX3 | c.1907T>A (p.Leu636His) c.1967T>A (p.Leu656His) c.1904T>A (p.Leu635His) | |
12 | g.114672107G>A | CA244141655 | TBX3 | c.1906C>T (p.Leu636Phe) c.1966C>T (p.Leu656Phe) c.1903C>T (p.Leu635Phe) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114672107G>C | CA386867941 | TBX3 | c.1906C>G (p.Leu636Val) c.1966C>G (p.Leu656Val) c.1903C>G (p.Leu635Val) | dbSNP |
12 | g.114672107G= | CA2064762058 | TBX3 | c.1906C= (p.Leu636=) c.1966C= (p.Leu656=) c.1903C= (p.Leu635=) | |
12 | g.114672107G>T | CA386867942 | TBX3 | c.1906C>A (p.Leu636Ile) c.1966C>A (p.Leu656Ile) c.1903C>A (p.Leu635Ile) | |
12 | g.114672108C>A | CA482136002 | TBX3 | c.1905G>T (p.Leu635=) c.1965G>T (p.Leu655=) c.1902G>T (p.Leu634=) | gnomAD v4 |
12 | g.114672108C>G | CA482136004 | TBX3 | c.1905G>C (p.Leu635=) c.1965G>C (p.Leu655=) c.1902G>C (p.Leu634=) | |
12 | g.114672108C>T | CA482136003 | TBX3 | c.1905G>A (p.Leu635=) c.1965G>A (p.Leu655=) c.1902G>A (p.Leu634=) | dbSNP gnomAD v4 |
12 | g.114672109A>C | CA386867943 | TBX3 | c.1904T>G (p.Leu635Arg) c.1964T>G (p.Leu655Arg) c.1901T>G (p.Leu634Arg) | |
12 | g.114672109A>G | CA386867944 | TBX3 | c.1904T>C (p.Leu635Pro) c.1964T>C (p.Leu655Pro) c.1901T>C (p.Leu634Pro) | |
12 | g.114672109A>T | CA386867945 | TBX3 | c.1904T>A (p.Leu635Gln) c.1964T>A (p.Leu655Gln) c.1901T>A (p.Leu634Gln) | |
12 | g.114672110G>A | CA244141656 | TBX3 | c.1903C>T (p.Leu635=) c.1963C>T (p.Leu655=) c.1900C>T (p.Leu634=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672110G>C | CA386867946 | TBX3 | c.1903C>G (p.Leu635Val) c.1963C>G (p.Leu655Val) c.1900C>G (p.Leu634Val) | gnomAD v4 |
12 | g.114672110G= | CA2064762068 | TBX3 | c.1903C= (p.Leu635=) c.1963C= (p.Leu655=) c.1900C= (p.Leu634=) | |
12 | g.114672110G>T | CA386867947 | TBX3 | c.1903C>A (p.Leu635Met) c.1963C>A (p.Leu655Met) c.1900C>A (p.Leu634Met) | gnomAD v4 |
12 | g.114672111A= | CA2064762072 | TBX3 | c.1902T= (p.Ser634=) c.1962T= (p.Ser654=) c.1899T= (p.Ser633=) | |
12 | g.114672111A>C | CA386867948 | TBX3 | c.1902T>G (p.Ser634Arg) c.1962T>G (p.Ser654Arg) c.1899T>G (p.Ser633Arg) | |
12 | g.114672111A>G | CA482136007 | TBX3 | c.1902T>C (p.Ser634=) c.1962T>C (p.Ser654=) c.1899T>C (p.Ser633=) | dbSNP gnomAD v4 |
12 | g.114672111A>T | CA386867949 | TBX3 | c.1902T>A (p.Ser634Arg) c.1962T>A (p.Ser654Arg) c.1899T>A (p.Ser633Arg) | dbSNP |
12 | g.114672112C>A | CA386867952 | TBX3 | c.1901G>T (p.Ser634Ile) c.1961G>T (p.Ser654Ile) c.1898G>T (p.Ser633Ile) | gnomAD v4 |
12 | g.114672112C= | CA2064762078 | TBX3 | c.1901G= (p.Ser634=) c.1961G= (p.Ser654=) c.1898G= (p.Ser633=) | |
12 | g.114672112C>G | CA386867951 | TBX3 | c.1901G>C (p.Ser634Thr) c.1961G>C (p.Ser654Thr) c.1898G>C (p.Ser633Thr) | |
12 | g.114672112C>T | CA386867950 | TBX3 | c.1901G>A (p.Ser634Asn) c.1961G>A (p.Ser654Asn) c.1898G>A (p.Ser633Asn) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672113T>A | CA386867955 | TBX3 | c.1900A>T (p.Ser634Cys) c.1960A>T (p.Ser654Cys) c.1897A>T (p.Ser633Cys) | |
12 | g.114672113T>C | CA386867953 | TBX3 | c.1900A>G (p.Ser634Gly) c.1960A>G (p.Ser654Gly) c.1897A>G (p.Ser633Gly) | dbSNP |
12 | g.114672113T>G | CA386867954 | TBX3 | c.1900A>C (p.Ser634Arg) c.1960A>C (p.Ser654Arg) c.1897A>C (p.Ser633Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672113T= | CA2064762080 | TBX3 | c.1900A= (p.Ser634=) c.1960A= (p.Ser654=) c.1897A= (p.Ser633=) | |
12 | g.114672114G>A | CA6809826 | TBX3 | c.1899C>T (p.Ser633=) c.1959C>T (p.Ser653=) c.1896C>T (p.Ser632=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672114G>C | CA386867956 | TBX3 | c.1899C>G (p.Ser633Arg) c.1959C>G (p.Ser653Arg) c.1896C>G (p.Ser632Arg) | gnomAD v4 |
12 | g.114672114G= | CA2064762084 | TBX3 | c.1899C= (p.Ser633=) c.1959C= (p.Ser653=) c.1896C= (p.Ser632=) | |
12 | g.114672114G>T | CA386867957 | TBX3 | c.1899C>A (p.Ser633Arg) c.1959C>A (p.Ser653Arg) c.1896C>A (p.Ser632Arg) | gnomAD v4 |
12 | g.114672115C>A | CA386867960 | TBX3 | c.1898G>T (p.Ser633Ile) c.1958G>T (p.Ser653Ile) c.1895G>T (p.Ser632Ile) | gnomAD v4 |
12 | g.114672115C= | CA2064762089 | TBX3 | c.1898G= (p.Ser633=) c.1958G= (p.Ser653=) c.1895G= (p.Ser632=) | |
12 | g.114672115C>G | CA386867959 | TBX3 | c.1898G>C (p.Ser633Thr) c.1958G>C (p.Ser653Thr) c.1895G>C (p.Ser632Thr) | |
12 | g.114672115C>T | CA386867958 | TBX3 | c.1898G>A (p.Ser633Asn) c.1958G>A (p.Ser653Asn) c.1895G>A (p.Ser632Asn) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114672116T>A | CA386867961 | TBX3 | c.1897A>T (p.Ser633Cys) c.1957A>T (p.Ser653Cys) c.1894A>T (p.Ser632Cys) | |
12 | g.114672116T>C | CA386867962 | TBX3 | c.1897A>G (p.Ser633Gly) c.1957A>G (p.Ser653Gly) c.1894A>G (p.Ser632Gly) | |
12 | g.114672116T>G | CA386867963 | TBX3 | c.1897A>C (p.Ser633Arg) c.1957A>C (p.Ser653Arg) c.1894A>C (p.Ser632Arg) | |
12 | g.114672117G>A | CA482135698 | TBX3 | c.1896C>T (p.Gly632=) c.1956C>T (p.Gly652=) c.1893C>T (p.Gly631=) | dbSNP gnomAD v4 |
12 | g.114672117G>C | CA482135699 | TBX3 | c.1896C>G (p.Gly632=) c.1956C>G (p.Gly652=) c.1893C>G (p.Gly631=) | gnomAD v4 |
12 | g.114672117G= | CA2064762093 | TBX3 | c.1896C= (p.Gly632=) c.1956C= (p.Gly652=) c.1893C= (p.Gly631=) | |
12 | g.114672117G>T | CA482135697 | TBX3 | c.1896C>A (p.Gly632=) c.1956C>A (p.Gly652=) c.1893C>A (p.Gly631=) | gnomAD v4 |
12 | g.114672118C>A | CA386867964 | TBX3 | c.1895G>T (p.Gly632Val) c.1955G>T (p.Gly652Val) c.1892G>T (p.Gly631Val) | gnomAD v4 |
12 | g.114672118C= | CA2064762098 | TBX3 | c.1895G= (p.Gly632=) c.1955G= (p.Gly652=) c.1892G= (p.Gly631=) | |
12 | g.114672118C>G | CA386867965 | TBX3 | c.1895G>C (p.Gly632Ala) c.1955G>C (p.Gly652Ala) c.1892G>C (p.Gly631Ala) | |
12 | g.114672118C>T | CA386867966 | TBX3 | c.1895G>A (p.Gly632Asp) c.1955G>A (p.Gly652Asp) c.1892G>A (p.Gly631Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672119C>A | CA6809827 | TBX3 | c.1894G>T (p.Gly632Cys) c.1954G>T (p.Gly652Cys) c.1891G>T (p.Gly631Cys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.114672119C= | CA2064762104 | TBX3 | c.1894G= (p.Gly632=) c.1954G= (p.Gly652=) c.1891G= (p.Gly631=) | |
12 | g.114672119C>G | CA386867968 | TBX3 | c.1894G>C (p.Gly632Arg) c.1954G>C (p.Gly652Arg) c.1891G>C (p.Gly631Arg) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114672119C>T | CA386867967 | TBX3 | c.1894G>A (p.Gly632Ser) c.1954G>A (p.Gly652Ser) c.1891G>A (p.Gly631Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.114672120G>A | CA482135700 | TBX3 | c.1893C>T (p.Asp631=) c.1953C>T (p.Asp651=) c.1890C>T (p.Asp630=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114672120G>C | CA6809828 | TBX3 | c.1893C>G (p.Asp631Glu) c.1953C>G (p.Asp651Glu) c.1890C>G (p.Asp630Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114672120G= | CA2064762107 | TBX3 | c.1893C= (p.Asp631=) c.1953C= (p.Asp651=) c.1890C= (p.Asp630=) | |
12 | g.114672120G>T | CA386867969 | TBX3 | c.1893C>A (p.Asp631Glu) c.1953C>A (p.Asp651Glu) c.1890C>A (p.Asp630Glu) | gnomAD v4 |
12 | g.114672121T>A | CA386867970 | TBX3 | c.1892A>T (p.Asp631Val) c.1952A>T (p.Asp651Val) c.1889A>T (p.Asp630Val) | dbSNP |
12 | g.114672121T>C | CA386867971 | TBX3 | c.1892A>G (p.Asp631Gly) c.1952A>G (p.Asp651Gly) c.1889A>G (p.Asp630Gly) | gnomAD v4 |
12 | g.114672121T>G | CA386867972 | TBX3 | c.1892A>C (p.Asp631Ala) c.1952A>C (p.Asp651Ala) c.1889A>C (p.Asp630Ala) | |
12 | g.114672121T= | CA2064762112 | TBX3 | c.1892A= (p.Asp631=) c.1952A= (p.Asp651=) c.1889A= (p.Asp630=) |