Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
12g.114672126G>ACA482135706TBX3c.1887C>T (p.Val629=)
c.1947C>T (p.Val649=)
c.1884C>T (p.Val628=)
12g.114672126G>CCA482135707TBX3c.1887C>G (p.Val629=)
c.1947C>G (p.Val649=)
c.1884C>G (p.Val628=)
12g.114672126G=CA2064762129TBX3c.1887C= (p.Val629=)
c.1947C= (p.Val649=)
c.1884C= (p.Val628=)
12g.114672126G>TCA6809830TBX3c.1887C>A (p.Val629=)
c.1947C>A (p.Val649=)
c.1884C>A (p.Val628=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672127A>CCA386867984TBX3c.1886T>G (p.Val629Gly)
c.1946T>G (p.Val649Gly)
c.1883T>G (p.Val628Gly)
 dbSNP
12g.114672127A>GCA386867982TBX3c.1886T>C (p.Val629Ala)
c.1946T>C (p.Val649Ala)
c.1883T>C (p.Val628Ala)
 gnomAD v4
12g.114672127A>TCA386867983TBX3c.1886T>A (p.Val629Asp)
c.1946T>A (p.Val649Asp)
c.1883T>A (p.Val628Asp)
12g.114672132_114672137dupCA2621129660TBX3c.1881_1886dup (p.Val629_Pro630insProVal)
c.1941_1946dup (p.Val649_Pro650insProVal)
c.1878_1883dup (p.Val628_Pro629insProVal)
 gnomAD v4
12g.114672128C>ACA386867985TBX3c.1885G>T (p.Val629Phe)
c.1945G>T (p.Val649Phe)
c.1882G>T (p.Val628Phe)
 gnomAD v4
12g.114672128C>GCA386867986TBX3c.1885G>C (p.Val629Leu)
c.1945G>C (p.Val649Leu)
c.1882G>C (p.Val628Leu)
12g.114672128C>TCA386867987TBX3c.1885G>A (p.Val629Ile)
c.1945G>A (p.Val649Ile)
c.1882G>A (p.Val628Ile)
 dbSNP gnomAD v4
12g.114672129C>ACA244141674TBX3c.1884G>T (p.Pro628=)
c.1944G>T (p.Pro648=)
c.1881G>T (p.Pro627=)
 dbSNP gnomAD v3 gnomAD v4
12g.114672129C=CA2064762134TBX3c.1884G= (p.Pro628=)
c.1944G= (p.Pro648=)
c.1881G= (p.Pro627=)
12g.114672129C>GCA482135709TBX3c.1884G>C (p.Pro628=)
c.1944G>C (p.Pro648=)
c.1881G>C (p.Pro627=)
12g.114672129C>TCA6809831TBX3c.1884G>A (p.Pro628=)
c.1944G>A (p.Pro648=)
c.1881G>A (p.Pro627=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672130G>ACA386867988TBX3c.1883C>T (p.Pro628Leu)
c.1943C>T (p.Pro648Leu)
c.1880C>T (p.Pro627Leu)
 dbSNP gnomAD v4
12g.114672130G>CCA386867989TBX3c.1883C>G (p.Pro628Arg)
c.1943C>G (p.Pro648Arg)
c.1880C>G (p.Pro627Arg)
12g.114672130G>TCA386867990TBX3c.1883C>A (p.Pro628Gln)
c.1943C>A (p.Pro648Gln)
c.1880C>A (p.Pro627Gln)
 gnomAD v4
12g.114672131G>ACA386867991TBX3c.1882C>T (p.Pro628Ser)
c.1942C>T (p.Pro648Ser)
c.1879C>T (p.Pro627Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672131G>CCA386867992TBX3c.1882C>G (p.Pro628Ala)
c.1942C>G (p.Pro648Ala)
c.1879C>G (p.Pro627Ala)
12g.114672131G=CA2064762148TBX3c.1882C= (p.Pro628=)
c.1942C= (p.Pro648=)
c.1879C= (p.Pro627=)
12g.114672131G>TCA386867993TBX3c.1882C>A (p.Pro628Thr)
c.1942C>A (p.Pro648Thr)
c.1879C>A (p.Pro627Thr)
 gnomAD v4
12g.114672132C>ACA482135711TBX3c.1881G>T (p.Val627=)
c.1941G>T (p.Val647=)
c.1878G>T (p.Val626=)
 gnomAD v4
12g.114672132C=CA2064762154TBX3c.1881G= (p.Val627=)
c.1941G= (p.Val647=)
c.1878G= (p.Val626=)
12g.114672132C>GCA482135712TBX3c.1881G>C (p.Val627=)
c.1941G>C (p.Val647=)
c.1878G>C (p.Val626=)
12g.114672132C>TCA482135713TBX3c.1881G>A (p.Val627=)
c.1941G>A (p.Val647=)
c.1878G>A (p.Val626=)
 dbSNP gnomAD v3 gnomAD v4
12g.114672133A=CA2064762159TBX3c.1880T= (p.Val627=)
c.1940T= (p.Val647=)
c.1877T= (p.Val626=)
12g.114672133A>CCA386867994TBX3c.1880T>G (p.Val627Gly)
c.1940T>G (p.Val647Gly)
c.1877T>G (p.Val626Gly)
12g.114672133A>GCA6809832TBX3c.1880T>C (p.Val627Ala)
c.1940T>C (p.Val647Ala)
c.1877T>C (p.Val626Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672133A>TCA386867995TBX3c.1880T>A (p.Val627Glu)
c.1940T>A (p.Val647Glu)
c.1877T>A (p.Val626Glu)
12g.114672134C>ACA386867996TBX3c.1879G>T (p.Val627Leu)
c.1939G>T (p.Val647Leu)
c.1876G>T (p.Val626Leu)
 gnomAD v4
12g.114672134C=CA2064762162TBX3c.1879G= (p.Val627=)
c.1939G= (p.Val647=)
c.1876G= (p.Val626=)
12g.114672134C>GCA386867997TBX3c.1879G>C (p.Val627Leu)
c.1939G>C (p.Val647Leu)
c.1876G>C (p.Val626Leu)
 dbSNP
12g.114672134C>TCA386867998TBX3c.1879G>A (p.Val627Met)
c.1939G>A (p.Val647Met)
c.1876G>A (p.Val626Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672135C>ACA482135715TBX3c.1878G>T (p.Pro626=)
c.1938G>T (p.Pro646=)
c.1875G>T (p.Pro625=)
 gnomAD v4
12g.114672135C=CA2064762165TBX3c.1878G= (p.Pro626=)
c.1938G= (p.Pro646=)
c.1875G= (p.Pro625=)
12g.114672135C>GCA482135716TBX3c.1878G>C (p.Pro626=)
c.1938G>C (p.Pro646=)
c.1875G>C (p.Pro625=)
 dbSNP
12g.114672135C>TCA482135717TBX3c.1878G>A (p.Pro626=)
c.1938G>A (p.Pro646=)
c.1875G>A (p.Pro625=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.114672136G>ACA386867999TBX3c.1877C>T (p.Pro626Leu)
c.1937C>T (p.Pro646Leu)
c.1874C>T (p.Pro625Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.114672136G>CCA386868000TBX3c.1877C>G (p.Pro626Arg)
c.1937C>G (p.Pro646Arg)
c.1874C>G (p.Pro625Arg)
12g.114672136G=CA2064762166TBX3c.1877C= (p.Pro626=)
c.1937C= (p.Pro646=)
c.1874C= (p.Pro625=)
12g.114672136G>TCA386868001TBX3c.1877C>A (p.Pro626Gln)
c.1937C>A (p.Pro646Gln)
c.1874C>A (p.Pro625Gln)
 gnomAD v4
12g.114672137G>ACA386868002TBX3c.1876C>T (p.Pro626Ser)
c.1936C>T (p.Pro646Ser)
c.1873C>T (p.Pro625Ser)
 dbSNP gnomAD v4 COSMIC
12g.114672137G>CCA386868003TBX3c.1876C>G (p.Pro626Ala)
c.1936C>G (p.Pro646Ala)
c.1873C>G (p.Pro625Ala)
12g.114672137G=CA2064762168TBX3c.1876C= (p.Pro626=)
c.1936C= (p.Pro646=)
c.1873C= (p.Pro625=)
12g.114672137G>TCA386868004TBX3c.1876C>A (p.Pro626Thr)
c.1936C>A (p.Pro646Thr)
c.1873C>A (p.Pro625Thr)
 gnomAD v4
12g.114672138G>ACA482135718TBX3c.1875C>T (p.Ile625=)
c.1935C>T (p.Ile645=)
c.1872C>T (p.Ile624=)
 gnomAD v4
12g.114672138G>CCA386868005TBX3c.1875C>G (p.Ile625Met)
c.1935C>G (p.Ile645Met)
c.1872C>G (p.Ile624Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672138G=CA2064762172TBX3c.1875C= (p.Ile625=)
c.1935C= (p.Ile645=)
c.1872C= (p.Ile624=)
12g.114672138G>TCA482135719TBX3c.1875C>A (p.Ile625=)
c.1935C>A (p.Ile645=)
c.1872C>A (p.Ile624=)
 gnomAD v4
12g.114672139A>CCA386868008TBX3c.1874T>G (p.Ile625Ser)
c.1934T>G (p.Ile645Ser)
c.1871T>G (p.Ile624Ser)
12g.114672139A>GCA386868007TBX3c.1874T>C (p.Ile625Thr)
c.1934T>C (p.Ile645Thr)
c.1871T>C (p.Ile624Thr)
 gnomAD v4
12g.114672139A>TCA386868006TBX3c.1874T>A (p.Ile625Asn)
c.1934T>A (p.Ile645Asn)
c.1871T>A (p.Ile624Asn)
12g.114672140T>ACA386868011TBX3c.1873A>T (p.Ile625Phe)
c.1933A>T (p.Ile645Phe)
c.1870A>T (p.Ile624Phe)
 dbSNP
12g.114672140T>CCA386868009TBX3c.1873A>G (p.Ile625Val)
c.1933A>G (p.Ile645Val)
c.1870A>G (p.Ile624Val)
 gnomAD v4
12g.114672140T>GCA386868010TBX3c.1873A>C (p.Ile625Leu)
c.1933A>C (p.Ile645Leu)
c.1870A>C (p.Ile624Leu)
12g.114672141G>ACA482135721TBX3c.1872C>T (p.Ser624=)
c.1932C>T (p.Ser644=)
c.1869C>T (p.Ser623=)
 dbSNP gnomAD v4
12g.114672141G>CCA482135722TBX3c.1872C>G (p.Ser624=)
c.1932C>G (p.Ser644=)
c.1869C>G (p.Ser623=)
 dbSNP
12g.114672141G=CA2064762177TBX3c.1872C= (p.Ser624=)
c.1932C= (p.Ser644=)
c.1869C= (p.Ser623=)
12g.114672141G>TCA482135723TBX3c.1872C>A (p.Ser624=)
c.1932C>A (p.Ser644=)
c.1869C>A (p.Ser623=)
 gnomAD v4
12g.114672142G>ACA386868012TBX3c.1871C>T (p.Ser624Phe)
c.1931C>T (p.Ser644Phe)
c.1868C>T (p.Ser623Phe)
 COSMIC
12g.114672142G>CCA386868013TBX3c.1871C>G (p.Ser624Cys)
c.1931C>G (p.Ser644Cys)
c.1868C>G (p.Ser623Cys)
12g.114672142G>TCA386868014TBX3c.1871C>A (p.Ser624Tyr)
c.1931C>A (p.Ser644Tyr)
c.1868C>A (p.Ser623Tyr)
 gnomAD v4
12g.114672143A>CCA386868015TBX3c.1870T>G (p.Ser624Ala)
c.1930T>G (p.Ser644Ala)
c.1867T>G (p.Ser623Ala)
12g.114672143A>GCA386868016TBX3c.1870T>C (p.Ser624Pro)
c.1930T>C (p.Ser644Pro)
c.1867T>C (p.Ser623Pro)
 gnomAD v4
12g.114672143A>TCA386868017TBX3c.1870T>A (p.Ser624Thr)
c.1930T>A (p.Ser644Thr)
c.1867T>A (p.Ser623Thr)
 gnomAD v4
12g.114672144G>ACA482135725TBX3c.1869C>T (p.Tyr623=)
c.1929C>T (p.Tyr643=)
c.1866C>T (p.Tyr622=)
 dbSNP gnomAD v4
12g.114672144G>CCA386868018TBX3c.1869C>G (p.Tyr623Ter)
c.1929C>G (p.Tyr643Ter)
c.1866C>G (p.Tyr622Ter)
 gnomAD v4
12g.114672144G>TCA386868019TBX3c.1869C>A (p.Tyr623Ter)
c.1929C>A (p.Tyr643Ter)
c.1866C>A (p.Tyr622Ter)
 gnomAD v4
12g.114672145T>ACA386868020TBX3c.1868A>T (p.Tyr623Phe)
c.1928A>T (p.Tyr643Phe)
c.1865A>T (p.Tyr622Phe)
12g.114672145T>CCA386868021TBX3c.1868A>G (p.Tyr623Cys)
c.1928A>G (p.Tyr643Cys)
c.1865A>G (p.Tyr622Cys)
 COSMIC
12g.114672145T>GCA386868022TBX3c.1868A>C (p.Tyr623Ser)
c.1928A>C (p.Tyr643Ser)
c.1865A>C (p.Tyr622Ser)
 dbSNP
12g.114672146A>CCA386868025TBX3c.1867T>G (p.Tyr623Asp)
c.1927T>G (p.Tyr643Asp)
c.1864T>G (p.Tyr622Asp)
12g.114672146A>GCA386868023TBX3c.1867T>C (p.Tyr623His)
c.1927T>C (p.Tyr643His)
c.1864T>C (p.Tyr622His)
 dbSNP
12g.114672146A>TCA386868024TBX3c.1867T>A (p.Tyr623Asn)
c.1927T>A (p.Tyr643Asn)
c.1864T>A (p.Tyr622Asn)
12g.114672146_114672157dupCA2621129661TBX3c.1856_1867dup (p.Pro622_Tyr623insCysTyrSerPro)
c.1916_1927dup (p.Pro642_Tyr643insCysTyrSerPro)
c.1853_1864dup (p.Pro621_Tyr622insCysTyrSerPro)
 gnomAD v4
12g.114672147G>ACA482135729TBX3c.1866C>T (p.Pro622=)
c.1926C>T (p.Pro642=)
c.1863C>T (p.Pro621=)
12g.114672147G>CCA6809833TBX3c.1866C>G (p.Pro622=)
c.1926C>G (p.Pro642=)
c.1863C>G (p.Pro621=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672147G=CA2064762184TBX3c.1866C= (p.Pro622=)
c.1926C= (p.Pro642=)
c.1863C= (p.Pro621=)
12g.114672147G>TCA482135730TBX3c.1866C>A (p.Pro622=)
c.1926C>A (p.Pro642=)
c.1863C>A (p.Pro621=)
 gnomAD v4
12g.114672148G>ACA386868026TBX3c.1865C>T (p.Pro622Leu)
c.1925C>T (p.Pro642Leu)
c.1862C>T (p.Pro621Leu)
 gnomAD v4
12g.114672148G>CCA386868027TBX3c.1865C>G (p.Pro622Arg)
c.1925C>G (p.Pro642Arg)
c.1862C>G (p.Pro621Arg)
12g.114672148G>TCA386868028TBX3c.1865C>A (p.Pro622His)
c.1925C>A (p.Pro642His)
c.1862C>A (p.Pro621His)
 gnomAD v4
12g.114672149G>ACA386868029TBX3c.1864C>T (p.Pro622Ser)
c.1924C>T (p.Pro642Ser)
c.1861C>T (p.Pro621Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.114672149G>CCA386868030TBX3c.1864C>G (p.Pro622Ala)
c.1924C>G (p.Pro642Ala)
c.1861C>G (p.Pro621Ala)
12g.114672149G=CA2064762190TBX3c.1864C= (p.Pro622=)
c.1924C= (p.Pro642=)
c.1861C= (p.Pro621=)
12g.114672149G>TCA386868031TBX3c.1864C>A (p.Pro622Thr)
c.1924C>A (p.Pro642Thr)
c.1861C>A (p.Pro621Thr)
12g.114672150G>ACA482135737TBX3c.1863C>T (p.Ser621=)
c.1923C>T (p.Ser641=)
c.1860C>T (p.Ser620=)
 dbSNP gnomAD v4
12g.114672150G>CCA386868032TBX3c.1863C>G (p.Ser621Arg)
c.1923C>G (p.Ser641Arg)
c.1860C>G (p.Ser620Arg)
12g.114672150G=CA2064762194TBX3c.1863C= (p.Ser621=)
c.1923C= (p.Ser641=)
c.1860C= (p.Ser620=)
12g.114672150G>TCA386868033TBX3c.1863C>A (p.Ser621Arg)
c.1923C>A (p.Ser641Arg)
c.1860C>A (p.Ser620Arg)
 gnomAD v4
12g.114672151C>ACA386868034TBX3c.1862G>T (p.Ser621Ile)
c.1922G>T (p.Ser641Ile)
c.1859G>T (p.Ser620Ile)
 dbSNP gnomAD v4
12g.114672151C>GCA386868035TBX3c.1862G>C (p.Ser621Thr)
c.1922G>C (p.Ser641Thr)
c.1859G>C (p.Ser620Thr)
12g.114672151C>TCA386868036TBX3c.1862G>A (p.Ser621Asn)
c.1922G>A (p.Ser641Asn)
c.1859G>A (p.Ser620Asn)
12g.114672152T>ACA386868038TBX3c.1861A>T (p.Ser621Cys)
c.1921A>T (p.Ser641Cys)
c.1858A>T (p.Ser620Cys)
12g.114672152T>CCA386868039TBX3c.1861A>G (p.Ser621Gly)
c.1921A>G (p.Ser641Gly)
c.1858A>G (p.Ser620Gly)
12g.114672152T>GCA386868037TBX3c.1861A>C (p.Ser621Arg)
c.1921A>C (p.Ser641Arg)
c.1858A>C (p.Ser620Arg)
12g.114672153delCA2530175169TBX3c.1860del (p.Tyr620Ter)
c.1920del (p.Tyr640Ter)
c.1857del (p.Tyr619Ter)
12g.114672153G>ACA482135739TBX3c.1860C>T (p.Tyr620=)
c.1920C>T (p.Tyr640=)
c.1857C>T (p.Tyr619=)
 dbSNP gnomAD v4
12g.114672153G>CCA386868040TBX3c.1860C>G (p.Tyr620Ter)
c.1920C>G (p.Tyr640Ter)
c.1857C>G (p.Tyr619Ter)
12g.114672153G>TCA386868041TBX3c.1860C>A (p.Tyr620Ter)
c.1920C>A (p.Tyr640Ter)
c.1857C>A (p.Tyr619Ter)
 gnomAD v4
12g.114672154T>ACA386868042TBX3c.1859A>T (p.Tyr620Phe)
c.1919A>T (p.Tyr640Phe)
c.1856A>T (p.Tyr619Phe)
12g.114672154T>CCA244141676TBX3c.1859A>G (p.Tyr620Cys)
c.1919A>G (p.Tyr640Cys)
c.1856A>G (p.Tyr619Cys)
 ClinVar dbSNP gnomAD v4
12g.114672154T>GCA386868043TBX3c.1859A>C (p.Tyr620Ser)
c.1919A>C (p.Tyr640Ser)
c.1856A>C (p.Tyr619Ser)
 dbSNP
12g.114672154T=CA2064762196TBX3c.1859A= (p.Tyr620=)
c.1919A= (p.Tyr640=)
c.1856A= (p.Tyr619=)
12g.114672155A=CA2064762199TBX3c.1858T= (p.Tyr620=)
c.1918T= (p.Tyr640=)
c.1855T= (p.Tyr619=)
12g.114672155A>CCA386868044TBX3c.1858T>G (p.Tyr620Asp)
c.1918T>G (p.Tyr640Asp)
c.1855T>G (p.Tyr619Asp)
12g.114672155A>GCA386868045TBX3c.1858T>C (p.Tyr620His)
c.1918T>C (p.Tyr640His)
c.1855T>C (p.Tyr619His)
 ClinVar dbSNP gnomAD v4
12g.114672155A>TCA386868046TBX3c.1858T>A (p.Tyr620Asn)
c.1918T>A (p.Tyr640Asn)
c.1855T>A (p.Tyr619Asn)
12g.114672156G>ACA482135744TBX3c.1857C>T (p.Arg619=)
c.1917C>T (p.Arg639=)
c.1854C>T (p.Arg618=)
12g.114672156G>CCA482135745TBX3c.1857C>G (p.Arg619=)
c.1917C>G (p.Arg639=)
c.1854C>G (p.Arg618=)
12g.114672156G>TCA482135746TBX3c.1857C>A (p.Arg619=)
c.1917C>A (p.Arg639=)
c.1854C>A (p.Arg618=)
 gnomAD v4
12g.114672157C>ACA386868047TBX3c.1856G>T (p.Arg619Leu)
c.1916G>T (p.Arg639Leu)
c.1853G>T (p.Arg618Leu)
 dbSNP gnomAD v4
12g.114672157C>GCA386868048TBX3c.1856G>C (p.Arg619Pro)
c.1916G>C (p.Arg639Pro)
c.1853G>C (p.Arg618Pro)
 dbSNP gnomAD v4
12g.114672157C>TCA386868049TBX3c.1856G>A (p.Arg619His)
c.1916G>A (p.Arg639His)
c.1853G>A (p.Arg618His)
 dbSNP gnomAD v4
12g.114672158G>ACA386868050TBX3c.1855C>T (p.Arg619Cys)
c.1915C>T (p.Arg639Cys)
c.1852C>T (p.Arg618Cys)
 dbSNP gnomAD v4 COSMIC
12g.114672158G>CCA386868051TBX3c.1855C>G (p.Arg619Gly)
c.1915C>G (p.Arg639Gly)
c.1852C>G (p.Arg618Gly)
12g.114672158G>TCA386868052TBX3c.1855C>A (p.Arg619Ser)
c.1915C>A (p.Arg639Ser)
c.1852C>A (p.Arg618Ser)
 gnomAD v4
12g.114672159C>ACA482135751TBX3c.1854G>T (p.Leu618=)
c.1914G>T (p.Leu638=)
c.1851G>T (p.Leu617=)
 gnomAD v4
12g.114672159C=CA2064762201TBX3c.1854G= (p.Leu618=)
c.1914G= (p.Leu638=)
c.1851G= (p.Leu617=)
12g.114672159C>GCA482135750TBX3c.1854G>C (p.Leu618=)
c.1914G>C (p.Leu638=)
c.1851G>C (p.Leu617=)
 dbSNP gnomAD v2 gnomAD v4
12g.114672159C>TCA482135749TBX3c.1854G>A (p.Leu618=)
c.1914G>A (p.Leu638=)
c.1851G>A (p.Leu617=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672160A=CA2064762205TBX3c.1853T= (p.Leu618=)
c.1913T= (p.Leu638=)
c.1850T= (p.Leu617=)
12g.114672160A>CCA386868053TBX3c.1853T>G (p.Leu618Arg)
c.1913T>G (p.Leu638Arg)
c.1850T>G (p.Leu617Arg)
12g.114672160A>GCA386868054TBX3c.1853T>C (p.Leu618Pro)
c.1913T>C (p.Leu638Pro)
c.1850T>C (p.Leu617Pro)
 dbSNP gnomAD v4
12g.114672160A>TCA386868055TBX3c.1853T>A (p.Leu618Gln)
c.1913T>A (p.Leu638Gln)
c.1850T>A (p.Leu617Gln)
 dbSNP
12g.114672161G>ACA482135755TBX3c.1852C>T (p.Leu618=)
c.1912C>T (p.Leu638=)
c.1849C>T (p.Leu617=)
 dbSNP
12g.114672161G>CCA386868056TBX3c.1852C>G (p.Leu618Val)
c.1912C>G (p.Leu638Val)
c.1849C>G (p.Leu617Val)
 dbSNP gnomAD v2
12g.114672161G=CA2064762209TBX3c.1852C= (p.Leu618=)
c.1912C= (p.Leu638=)
c.1849C= (p.Leu617=)
12g.114672161G>TCA386868057TBX3c.1852C>A (p.Leu618Met)
c.1912C>A (p.Leu638Met)
c.1849C>A (p.Leu617Met)
 gnomAD v4
12g.114672162C>ACA482135758TBX3c.1851G>T (p.Arg617=)
c.1911G>T (p.Arg637=)
c.1848G>T (p.Arg616=)
 gnomAD v4
12g.114672162C>GCA482135757TBX3c.1851G>C (p.Arg617=)
c.1911G>C (p.Arg637=)
c.1848G>C (p.Arg616=)
12g.114672162C>TCA482135756TBX3c.1851G>A (p.Arg617=)
c.1911G>A (p.Arg637=)
c.1848G>A (p.Arg616=)
 gnomAD v4
12g.114672163C>ACA386868058TBX3c.1850G>T (p.Arg617Leu)
c.1910G>T (p.Arg637Leu)
c.1847G>T (p.Arg616Leu)
 gnomAD v4
12g.114672163C>GCA386868059TBX3c.1850G>C (p.Arg617Pro)
c.1910G>C (p.Arg637Pro)
c.1847G>C (p.Arg616Pro)
 dbSNP
12g.114672163C>TCA386868060TBX3c.1850G>A (p.Arg617Gln)
c.1910G>A (p.Arg637Gln)
c.1847G>A (p.Arg616Gln)
 gnomAD v4
12g.114672163_114672166delinsCGCGCA2064762214TBX3c.1847_1850delinsCGCG (p.Pro616=)
c.1907_1910delinsCGCG (p.Pro636=)
c.1844_1847delinsCGCG (p.Pro615=)
12g.114672164G>ACA386868061TBX3c.1849C>T (p.Arg617Trp)
c.1909C>T (p.Arg637Trp)
c.1846C>T (p.Arg616Trp)
 dbSNP gnomAD v4
12g.114672164G>CCA386868062TBX3c.1849C>G (p.Arg617Gly)
c.1909C>G (p.Arg637Gly)
c.1846C>G (p.Arg616Gly)
12g.114672164G>TCA482135762TBX3c.1849C>A (p.Arg617=)
c.1909C>A (p.Arg637=)
c.1846C>A (p.Arg616=)
 gnomAD v4
12g.114672165_114672167delCA952072878TBX3c.1847_1849del (p.Pro616del)
c.1907_1909del (p.Pro636del)
c.1844_1846del (p.Pro615del)
 dbSNP
12g.114672165delCA2621129662TBX3c.1848del (p.Arg617GlyfsTer?)
c.1908del (p.Arg637GlyfsTer?)
c.1845del (p.Arg616GlyfsTer?)
 gnomAD v4
12g.114672165C>ACA482135763TBX3c.1848G>T (p.Pro616=)
c.1908G>T (p.Pro636=)
c.1845G>T (p.Pro615=)
 gnomAD v4
12g.114672165C=CA2064762222TBX3c.1848G= (p.Pro616=)
c.1908G= (p.Pro636=)
c.1845G= (p.Pro615=)
12g.114672165C>GCA482135765TBX3c.1848G>C (p.Pro616=)
c.1908G>C (p.Pro636=)
c.1845G>C (p.Pro615=)
 dbSNP gnomAD v4
12g.114672165C>TCA482135764TBX3c.1848G>A (p.Pro616=)
c.1908G>A (p.Pro636=)
c.1845G>A (p.Pro615=)
 dbSNP gnomAD v2 gnomAD v4
12g.114672166G>ACA386868063TBX3c.1847C>T (p.Pro616Leu)
c.1907C>T (p.Pro636Leu)
c.1844C>T (p.Pro615Leu)
 dbSNP gnomAD v4
12g.114672166G>CCA386868064TBX3c.1847C>G (p.Pro616Arg)
c.1907C>G (p.Pro636Arg)
c.1844C>G (p.Pro615Arg)
 gnomAD v4
12g.114672166G=CA2064762224TBX3c.1847C= (p.Pro616=)
c.1907C= (p.Pro636=)
c.1844C= (p.Pro615=)
12g.114672166G>TCA6809834TBX3c.1847C>A (p.Pro616Gln)
c.1907C>A (p.Pro636Gln)
c.1844C>A (p.Pro615Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672168delCA2695217425TBX3c.1847del (p.Pro616ArgfsTer?)
c.1907del (p.Pro636ArgfsTer?)
c.1844del (p.Pro615ArgfsTer?)
12g.114672167G>ACA386868065TBX3c.1846C>T (p.Pro616Ser)
c.1906C>T (p.Pro636Ser)
c.1843C>T (p.Pro615Ser)
 gnomAD v4
12g.114672167G>CCA386868066TBX3c.1846C>G (p.Pro616Ala)
c.1906C>G (p.Pro636Ala)
c.1843C>G (p.Pro615Ala)
12g.114672167G>TCA386868067TBX3c.1846C>A (p.Pro616Thr)
c.1906C>A (p.Pro636Thr)
c.1843C>A (p.Pro615Thr)
 gnomAD v4
12g.114672168G>ACA482135767TBX3c.1845C>T (p.Arg615=)
c.1905C>T (p.Arg635=)
c.1842C>T (p.Arg614=)
 dbSNP gnomAD v2 gnomAD v4
12g.114672168G>CCA482135768TBX3c.1845C>G (p.Arg615=)
c.1905C>G (p.Arg635=)
c.1842C>G (p.Arg614=)
12g.114672168G=CA2064762230TBX3c.1845C= (p.Arg615=)
c.1905C= (p.Arg635=)
c.1842C= (p.Arg614=)
12g.114672168G>TCA482135769TBX3c.1845C>A (p.Arg615=)
c.1905C>A (p.Arg635=)
c.1842C>A (p.Arg614=)
 gnomAD v4
12g.114672169C>ACA386868069TBX3c.1844G>T (p.Arg615Leu)
c.1904G>T (p.Arg635Leu)
c.1841G>T (p.Arg614Leu)
 gnomAD v4
12g.114672169C=CA2064762233TBX3c.1844G= (p.Arg615=)
c.1904G= (p.Arg635=)
c.1841G= (p.Arg614=)
12g.114672169C>GCA386868070TBX3c.1844G>C (p.Arg615Pro)
c.1904G>C (p.Arg635Pro)
c.1841G>C (p.Arg614Pro)
 dbSNP gnomAD v4
12g.114672169C>TCA386868068TBX3c.1844G>A (p.Arg615His)
c.1904G>A (p.Arg635His)
c.1841G>A (p.Arg614His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.114672170G>ACA386868071TBX3c.1843C>T (p.Arg615Cys)
c.1903C>T (p.Arg635Cys)
c.1840C>T (p.Arg614Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.114672170G>CCA6809835TBX3c.1843C>G (p.Arg615Gly)
c.1903C>G (p.Arg635Gly)
c.1840C>G (p.Arg614Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672170G=CA2064762238TBX3c.1843C= (p.Arg615=)
c.1903C= (p.Arg635=)
c.1840C= (p.Arg614=)
12g.114672170G>TCA386868072TBX3c.1843C>A (p.Arg615Ser)
c.1903C>A (p.Arg635Ser)
c.1840C>A (p.Arg614Ser)
 gnomAD v4
12g.114672171C>ACA386868073TBX3c.1842G>T (p.Met614Ile)
c.1902G>T (p.Met634Ile)
c.1839G>T (p.Met613Ile)
12g.114672171C>GCA386868074TBX3c.1842G>C (p.Met614Ile)
c.1902G>C (p.Met634Ile)
c.1839G>C (p.Met613Ile)
12g.114672171C>TCA386868075TBX3c.1842G>A (p.Met614Ile)
c.1902G>A (p.Met634Ile)
c.1839G>A (p.Met613Ile)
 gnomAD v4
12g.114672172A=CA2064762241TBX3c.1841T= (p.Met614=)
c.1901T= (p.Met634=)
c.1838T= (p.Met613=)
12g.114672172A>CCA386868076TBX3c.1841T>G (p.Met614Arg)
c.1901T>G (p.Met634Arg)
c.1838T>G (p.Met613Arg)
12g.114672172A>GCA386868077TBX3c.1841T>C (p.Met614Thr)
c.1901T>C (p.Met634Thr)
c.1838T>C (p.Met613Thr)
 dbSNP
12g.114672172A>TCA386868078TBX3c.1841T>A (p.Met614Lys)
c.1901T>A (p.Met634Lys)
c.1838T>A (p.Met613Lys)
 gnomAD v4
12g.114672173T>ACA386868079TBX3c.1840A>T (p.Met614Leu)
c.1900A>T (p.Met634Leu)
c.1837A>T (p.Met613Leu)
12g.114672173T>CCA386868080TBX3c.1840A>G (p.Met614Val)
c.1900A>G (p.Met634Val)
c.1837A>G (p.Met613Val)
 dbSNP gnomAD v2 gnomAD v4
12g.114672173T>GCA386868081TBX3c.1840A>C (p.Met614Leu)
c.1900A>C (p.Met634Leu)
c.1837A>C (p.Met613Leu)
12g.114672173T=CA2064762248TBX3c.1840A= (p.Met614=)
c.1900A= (p.Met634=)
c.1837A= (p.Met613=)
12g.114672174G>ACA482135775TBX3c.1839C>T (p.Thr613=)
c.1899C>T (p.Thr633=)
c.1836C>T (p.Thr612=)
 gnomAD v4
12g.114672174G>CCA482135776TBX3c.1839C>G (p.Thr613=)
c.1899C>G (p.Thr633=)
c.1836C>G (p.Thr612=)
12g.114672174G>TCA482135777TBX3c.1839C>A (p.Thr613=)
c.1899C>A (p.Thr633=)
c.1836C>A (p.Thr612=)
12g.114672175G>ACA244141693TBX3c.1838C>T (p.Thr613Ile)
c.1898C>T (p.Thr633Ile)
c.1835C>T (p.Thr612Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672175G>CCA386868083TBX3c.1838C>G (p.Thr613Ser)
c.1898C>G (p.Thr633Ser)
c.1835C>G (p.Thr612Ser)
12g.114672175G=CA2064762254TBX3c.1838C= (p.Thr613=)
c.1898C= (p.Thr633=)
c.1835C= (p.Thr612=)
12g.114672175G>TCA386868082TBX3c.1838C>A (p.Thr613Asn)
c.1898C>A (p.Thr633Asn)
c.1835C>A (p.Thr612Asn)
 gnomAD v4
12g.114672176T>ACA386868084TBX3c.1837A>T (p.Thr613Ser)
c.1897A>T (p.Thr633Ser)
c.1834A>T (p.Thr612Ser)
 COSMIC
12g.114672176T>CCA386868085TBX3c.1837A>G (p.Thr613Ala)
c.1897A>G (p.Thr633Ala)
c.1834A>G (p.Thr612Ala)
 dbSNP gnomAD v2 gnomAD v4
12g.114672176T>GCA386868086TBX3c.1837A>C (p.Thr613Pro)
c.1897A>C (p.Thr633Pro)
c.1834A>C (p.Thr612Pro)
12g.114672176T=CA2064762262TBX3c.1837A= (p.Thr613=)
c.1897A= (p.Thr633=)
c.1834A= (p.Thr612=)
12g.114672177G>ACA482135778TBX3c.1836C>T (p.Asn612=)
c.1896C>T (p.Asn632=)
c.1833C>T (p.Asn611=)
 dbSNP gnomAD v2 gnomAD v4
12g.114672177G>CCA244141696TBX3c.1836C>G (p.Asn612Lys)
c.1896C>G (p.Asn632Lys)
c.1833C>G (p.Asn611Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.114672177G=CA2064762269TBX3c.1836C= (p.Asn612=)
c.1896C= (p.Asn632=)
c.1833C= (p.Asn611=)
12g.114672177G>TCA386868087TBX3c.1836C>A (p.Asn612Lys)
c.1896C>A (p.Asn632Lys)
c.1833C>A (p.Asn611Lys)
 gnomAD v4
12g.114672178T>ACA386868090TBX3c.1835A>T (p.Asn612Ile)
c.1895A>T (p.Asn632Ile)
c.1832A>T (p.Asn611Ile)
12g.114672178T>CCA386868088TBX3c.1835A>G (p.Asn612Ser)
c.1895A>G (p.Asn632Ser)
c.1832A>G (p.Asn611Ser)
 gnomAD v4
12g.114672178T>GCA386868089TBX3c.1835A>C (p.Asn612Thr)
c.1895A>C (p.Asn632Thr)
c.1832A>C (p.Asn611Thr)
12g.114672179T>ACA386868091TBX3c.1834A>T (p.Asn612Tyr)
c.1894A>T (p.Asn632Tyr)
c.1831A>T (p.Asn611Tyr)
12g.114672179T>CCA386868092TBX3c.1834A>G (p.Asn612Asp)
c.1894A>G (p.Asn632Asp)
c.1831A>G (p.Asn611Asp)
 dbSNP
12g.114672179T>GCA386868093TBX3c.1834A>C (p.Asn612His)
c.1894A>C (p.Asn632His)
c.1831A>C (p.Asn611His)
12g.114672180C>ACA482135782TBX3c.1833G>T (p.Leu611=)
c.1893G>T (p.Leu631=)
c.1830G>T (p.Leu610=)
 gnomAD v4
12g.114672180C=CA2064762277TBX3c.1833G= (p.Leu611=)
c.1893G= (p.Leu631=)
c.1830G= (p.Leu610=)
12g.114672180C>GCA482135783TBX3c.1833G>C (p.Leu611=)
c.1893G>C (p.Leu631=)
c.1830G>C (p.Leu610=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672180C>TCA482135784TBX3c.1833G>A (p.Leu611=)
c.1893G>A (p.Leu631=)
c.1830G>A (p.Leu610=)
 dbSNP gnomAD v4
12g.114672181A=CA2064762281TBX3c.1832T= (p.Leu611=)
c.1892T= (p.Leu631=)
c.1829T= (p.Leu610=)
12g.114672181A>CCA386868094TBX3c.1832T>G (p.Leu611Arg)
c.1892T>G (p.Leu631Arg)
c.1829T>G (p.Leu610Arg)
12g.114672181A>GCA6809836TBX3c.1832T>C (p.Leu611Pro)
c.1892T>C (p.Leu631Pro)
c.1829T>C (p.Leu610Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672181A>TCA386868095TBX3c.1832T>A (p.Leu611Gln)
c.1892T>A (p.Leu631Gln)
c.1829T>A (p.Leu610Gln)
 gnomAD v4
12g.114672182G>ACA482135786TBX3c.1831C>T (p.Leu611=)
c.1891C>T (p.Leu631=)
c.1828C>T (p.Leu610=)
 gnomAD v4
12g.114672182G>CCA244141701TBX3c.1831C>G (p.Leu611Val)
c.1891C>G (p.Leu631Val)
c.1828C>G (p.Leu610Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672182G=CA2064762294TBX3c.1831C= (p.Leu611=)
c.1891C= (p.Leu631=)
c.1828C= (p.Leu610=)
12g.114672182G>TCA6809837TBX3c.1831C>A (p.Leu611Met)
c.1891C>A (p.Leu631Met)
c.1828C>A (p.Leu610Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672183A>CCA386868096TBX3c.1830T>G (p.Asn610Lys)
c.1890T>G (p.Asn630Lys)
c.1827T>G (p.Asn609Lys)
12g.114672183A>GCA482135787TBX3c.1830T>C (p.Asn610=)
c.1890T>C (p.Asn630=)
c.1827T>C (p.Asn609=)
12g.114672183A>TCA386868097TBX3c.1830T>A (p.Asn610Lys)
c.1890T>A (p.Asn630Lys)
c.1827T>A (p.Asn609Lys)
 dbSNP
12g.114672184T>ACA386868098TBX3c.1829A>T (p.Asn610Ile)
c.1889A>T (p.Asn630Ile)
c.1826A>T (p.Asn609Ile)
 gnomAD v4
12g.114672184T>CCA386868099TBX3c.1829A>G (p.Asn610Ser)
c.1889A>G (p.Asn630Ser)
c.1826A>G (p.Asn609Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672184T>GCA386868100TBX3c.1829A>C (p.Asn610Thr)
c.1889A>C (p.Asn630Thr)
c.1826A>C (p.Asn609Thr)
12g.114672184T=CA2064762300TBX3c.1829A= (p.Asn610=)
c.1889A= (p.Asn630=)
c.1826A= (p.Asn609=)
12g.114672185T>ACA386868101TBX3c.1828A>T (p.Asn610Tyr)
c.1888A>T (p.Asn630Tyr)
c.1825A>T (p.Asn609Tyr)
12g.114672185T>CCA386868102TBX3c.1828A>G (p.Asn610Asp)
c.1888A>G (p.Asn630Asp)
c.1825A>G (p.Asn609Asp)
12g.114672185T>GCA386868103TBX3c.1828A>C (p.Asn610His)
c.1888A>C (p.Asn630His)
c.1825A>C (p.Asn609His)
12g.114672186G>ACA6809838TBX3c.1827C>T (p.Leu609=)
c.1887C>T (p.Leu629=)
c.1824C>T (p.Leu608=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672186G>CCA6809839TBX3c.1827C>G (p.Leu609=)
c.1887C>G (p.Leu629=)
c.1824C>G (p.Leu608=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672186G=CA2064762310TBX3c.1827C= (p.Leu609=)
c.1887C= (p.Leu629=)
c.1824C= (p.Leu608=)
12g.114672186G>TCA482135792TBX3c.1827C>A (p.Leu609=)
c.1887C>A (p.Leu629=)
c.1824C>A (p.Leu608=)
 gnomAD v4
12g.114672187A>CCA244141711TBX3c.1826T>G (p.Leu609Arg)
c.1886T>G (p.Leu629Arg)
c.1823T>G (p.Leu608Arg)
12g.114672187A>GCA386868104TBX3c.1826T>C (p.Leu609Pro)
c.1886T>C (p.Leu629Pro)
c.1823T>C (p.Leu608Pro)
12g.114672187A>TCA386868105TBX3c.1826T>A (p.Leu609His)
c.1886T>A (p.Leu629His)
c.1823T>A (p.Leu608His)
12g.114672188G>ACA386868106TBX3c.1825C>T (p.Leu609Phe)
c.1885C>T (p.Leu629Phe)
c.1822C>T (p.Leu608Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672188G>CCA386868107TBX3c.1825C>G (p.Leu609Val)
c.1885C>G (p.Leu629Val)
c.1822C>G (p.Leu608Val)
12g.114672188G=CA2064762320TBX3c.1825C= (p.Leu609=)
c.1885C= (p.Leu629=)
c.1822C= (p.Leu608=)
12g.114672188G>TCA386868108TBX3c.1825C>A (p.Leu609Ile)
c.1885C>A (p.Leu629Ile)
c.1822C>A (p.Leu608Ile)
 gnomAD v4
12g.114672189G>ACA386868109TBX3c.1824C>T (p.Phe608=)
c.1884C>T (p.Phe628=)
c.1822-1C>T (n.1822-1C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.114672189G>CCA386868111TBX3c.1824C>G (p.Phe608Leu)
c.1884C>G (p.Phe628Leu)
c.1822-1C>G (n.1822-1C>G)
 gnomAD v4
12g.114672189G=CA2064762325TBX3c.1824C= (p.Phe608=)
c.1884C= (p.Phe628=)
c.1822-1C= (n.1822-1C=)
12g.114672189G>TCA386868110TBX3c.1824C>A (p.Phe608Leu)
c.1884C>A (p.Phe628Leu)
c.1822-1C>A (n.1822-1C>A)
12g.114672190A>CCA386868112TBX3c.1823T>G (p.Phe608Cys)
c.1883T>G (p.Phe628Cys)
c.1821T>G (p.Leu607=)
12g.114672190A>GCA386868113TBX3c.1823T>C (p.Phe608Ser)
c.1883T>C (p.Phe628Ser)
c.1821T>C (p.Leu607=)
12g.114672190A>TCA386868114TBX3c.1823T>A (p.Phe608Tyr)
c.1883T>A (p.Phe628Tyr)
c.1821T>A (p.Leu607=)
12g.114672191A>CCA386868115TBX3c.1822T>G (p.Phe608Val)
c.1882T>G (p.Phe628Val)
c.1820T>G (p.Leu607Arg)
12g.114672191A>GCA386868116TBX3c.1822T>C (p.Phe608Leu)
c.1882T>C (p.Phe628Leu)
c.1820T>C (p.Leu607Pro)
 dbSNP gnomAD v4
12g.114672191A>TCA386868117TBX3c.1822T>A (p.Phe608Ile)
c.1882T>A (p.Phe628Ile)
c.1820T>A (p.Leu607His)
12g.114672192G>ACA386868118TBX3c.1821C>T (p.Pro607=)
c.1881C>T (p.Pro627=)
c.1819C>T (p.Leu607Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.114672192G>CCA386868119TBX3c.1821C>G (p.Pro607=)
c.1881C>G (p.Pro627=)
c.1819C>G (p.Leu607Val)
12g.114672192G=CA2064762327TBX3c.1821C= (p.Pro607=)
c.1881C= (p.Pro627=)
c.1819C= (p.Leu607=)
12g.114672192G>TCA386868120TBX3c.1821C>A (p.Pro607=)
c.1881C>A (p.Pro627=)
c.1819C>A (p.Leu607Ile)
 gnomAD v4
12g.114672193G>ACA386868121TBX3c.1820C>T (p.Pro607Leu)
c.1880C>T (p.Pro627Leu)
c.1818C>T (p.Pro606=)
12g.114672193G>CCA386868122TBX3c.1820C>G (p.Pro607Arg)
c.1880C>G (p.Pro627Arg)
c.1818C>G (p.Pro606=)
12g.114672193G>TCA386868123TBX3c.1820C>A (p.Pro607His)
c.1880C>A (p.Pro627His)
c.1818C>A (p.Pro606=)
 gnomAD v4
12g.114672194G>ACA386868124TBX3c.1819C>T (p.Pro607Ser)
c.1879C>T (p.Pro627Ser)
c.1817C>T (p.Pro606Leu)
 gnomAD v4
12g.114672194G>CCA386868126TBX3c.1819C>G (p.Pro607Ala)
c.1879C>G (p.Pro627Ala)
c.1817C>G (p.Pro606Arg)
12g.114672194G>TCA386868125TBX3c.1819C>A (p.Pro607Thr)
c.1879C>A (p.Pro627Thr)
c.1817C>A (p.Pro606His)
 gnomAD v4
12g.114672195G>ACA386868127TBX3c.1818C>T (p.His606=)
c.1878C>T (p.His626=)
c.1816C>T (p.Pro606Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.114672195G>CCA386868128TBX3c.1818C>G (p.His606Gln)
c.1878C>G (p.His626Gln)
c.1816C>G (p.Pro606Ala)
12g.114672195G=CA2064762330TBX3c.1818C= (p.His606=)
c.1878C= (p.His626=)
c.1816C= (p.Pro606=)
12g.114672195G>TCA244141712TBX3c.1818C>A (p.His606Gln)
c.1878C>A (p.His626Gln)
c.1816C>A (p.Pro606Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672196T>ACA386868129TBX3c.1817A>T (p.His606Leu)
c.1877A>T (p.His626Leu)
c.1816-1A>T (n.1816-1A>T)
 dbSNP gnomAD v4
12g.114672196T>CCA386868130TBX3c.1817A>G (p.His606Arg)
c.1877A>G (p.His626Arg)
c.1816-1A>G (n.1816-1A>G)
12g.114672196T>GCA386868131TBX3c.1817A>C (p.His606Pro)
c.1877A>C (p.His626Pro)
c.1816-1A>C (n.1816-1A>C)
 dbSNP
12g.114672196T=CA2064762338TBX3c.1817A= (p.His606=)
c.1877A= (p.His626=)
c.1816-1A= (n.1816-1A=)
12g.114672197G>ACA386868132TBX3c.1816C>T (p.His606Tyr)
c.1876C>T (p.His626Tyr)
c.1815C>T (p.Ala605=)
 gnomAD v4
12g.114672197G>CCA386868133TBX3c.1816C>G (p.His606Asp)
c.1876C>G (p.His626Asp)
c.1815C>G (p.Ala605=)
12g.114672197G>TCA386868134TBX3c.1816C>A (p.His606Asn)
c.1876C>A (p.His626Asn)
c.1815C>A (p.Ala605=)
 gnomAD v4
12g.114672198G>ACA6809840TBX3c.1815C>T (p.Arg605=)
c.1875C>T (p.Arg625=)
c.1814C>T (p.Ala605Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672198G>CCA386868135TBX3c.1815C>G (p.Arg605=)
c.1875C>G (p.Arg625=)
c.1814C>G (p.Ala605Gly)
 gnomAD v4
12g.114672198G=CA2064762340TBX3c.1815C= (p.Arg605=)
c.1875C= (p.Arg625=)
c.1814C= (p.Ala605=)
12g.114672198G>TCA386868136TBX3c.1815C>A (p.Arg605=)
c.1875C>A (p.Arg625=)
c.1814C>A (p.Ala605Asp)
 gnomAD v4
12g.114672199C>ACA386868139TBX3c.1814G>T (p.Arg605Leu)
c.1874G>T (p.Arg625Leu)
c.1813G>T (p.Ala605Ser)
 dbSNP gnomAD v4
12g.114672199C=CA2064762349TBX3c.1814G= (p.Arg605=)
c.1874G= (p.Arg625=)
c.1813G= (p.Ala605=)
12g.114672199C>GCA386868138TBX3c.1814G>C (p.Arg605Pro)
c.1874G>C (p.Arg625Pro)
c.1813G>C (p.Ala605Pro)
 dbSNP
12g.114672199C>TCA386868137TBX3c.1814G>A (p.Arg605His)
c.1874G>A (p.Arg625His)
c.1813G>A (p.Ala605Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.114672200G>ACA6809841TBX3c.1813C>T (p.Arg605Cys)
c.1873C>T (p.Arg625Cys)
c.1812C>T (p.Thr604=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672200G>CCA386868140TBX3c.1813C>G (p.Arg605Gly)
c.1873C>G (p.Arg625Gly)
c.1812C>G (p.Thr604=)
12g.114672200G=CA2064762354TBX3c.1813C= (p.Arg605=)
c.1873C= (p.Arg625=)
c.1812C= (p.Thr604=)
12g.114672200G>TCA244141721TBX3c.1813C>A (p.Arg605Ser)
c.1873C>A (p.Arg625Ser)
c.1812C>A (p.Thr604=)
 dbSNP gnomAD v3 gnomAD v4
12g.114672201G>ACA386868141TBX3c.1812C>T (p.His604=)
c.1872C>T (p.His624=)
c.1811C>T (p.Thr604Ile)
 dbSNP gnomAD v4
12g.114672201G>CCA386868142TBX3c.1812C>G (p.His604Gln)
c.1872C>G (p.His624Gln)
c.1811C>G (p.Thr604Ser)
 gnomAD v4
12g.114672201G>TCA386868143TBX3c.1812C>A (p.His604Gln)
c.1872C>A (p.His624Gln)
c.1811C>A (p.Thr604Asn)
 gnomAD v4
12g.114672202T>ACA386868144TBX3c.1811A>T (p.His604Leu)
c.1871A>T (p.His624Leu)
c.1810A>T (p.Thr604Ser)
 dbSNP
12g.114672202T>CCA6809842TBX3c.1811A>G (p.His604Arg)
c.1871A>G (p.His624Arg)
c.1810A>G (p.Thr604Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672202T>GCA386868145TBX3c.1811A>C (p.His604Pro)
c.1871A>C (p.His624Pro)
c.1810A>C (p.Thr604Pro)
 dbSNP
12g.114672202T=CA2064762360TBX3c.1811A= (p.His604=)
c.1871A= (p.His624=)
c.1810A= (p.Thr604=)
12g.114672203G>ACA386868146TBX3c.1810C>T (p.His604Tyr)
c.1870C>T (p.His624Tyr)
c.1809C>T (p.Cys603=)
 dbSNP gnomAD v4
12g.114672203G>CCA386868147TBX3c.1810C>G (p.His604Asp)
c.1870C>G (p.His624Asp)
c.1809C>G (p.Cys603Trp)
 dbSNP
12g.114672203G=CA2064762366TBX3c.1810C= (p.His604=)
c.1870C= (p.His624=)
c.1809C= (p.Cys603=)
12g.114672203G>TCA6809843TBX3c.1810C>A (p.His604Asn)
c.1870C>A (p.His624Asn)
c.1809C>A (p.Cys603Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672204C>ACA386868148TBX3c.1809G>T (p.Val603=)
c.1869G>T (p.Val623=)
c.1808G>T (p.Cys603Phe)
 gnomAD v4
12g.114672204C>GCA386868150TBX3c.1809G>C (p.Val603=)
c.1869G>C (p.Val623=)
c.1808G>C (p.Cys603Ser)
12g.114672204C>TCA386868149TBX3c.1809G>A (p.Val603=)
c.1869G>A (p.Val623=)
c.1808G>A (p.Cys603Tyr)
12g.114672205A>CCA386868151TBX3c.1808T>G (p.Val603Gly)
c.1868T>G (p.Val623Gly)
c.1807T>G (p.Cys603Gly)
 dbSNP
12g.114672205A>GCA386868153TBX3c.1808T>C (p.Val603Ala)
c.1868T>C (p.Val623Ala)
c.1807T>C (p.Cys603Arg)
12g.114672205A>TCA386868152TBX3c.1808T>A (p.Val603Glu)
c.1868T>A (p.Val623Glu)
c.1807T>A (p.Cys603Ser)
12g.114672206C>ACA386868154TBX3c.1807G>T (p.Val603Leu)
c.1867G>T (p.Val623Leu)
c.1806G>T (p.Arg602=)
 gnomAD v4
12g.114672206C>GCA386868156TBX3c.1807G>C (p.Val603Leu)
c.1867G>C (p.Val623Leu)
c.1806G>C (p.Arg602=)
 dbSNP
12g.114672206C>TCA386868155TBX3c.1807G>A (p.Val603Met)
c.1867G>A (p.Val623Met)
c.1806G>A (p.Arg602=)
 dbSNP
12g.114672207C>ACA386868157TBX3c.1806G>T (p.Ser602=)
c.1866G>T (p.Ser622=)
c.1805G>T (p.Arg602Leu)
 dbSNP gnomAD v4
12g.114672207C=CA2064762371TBX3c.1806G= (p.Ser602=)
c.1866G= (p.Ser622=)
c.1805G= (p.Arg602=)
12g.114672207C>GCA386868158TBX3c.1806G>C (p.Ser602=)
c.1866G>C (p.Ser622=)
c.1805G>C (p.Arg602Pro)
 dbSNP
12g.114672207C>TCA386868159TBX3c.1806G>A (p.Ser602=)
c.1866G>A (p.Ser622=)
c.1805G>A (p.Arg602Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114672208G>ACA386868160TBX3c.1805C>T (p.Ser602Leu)
c.1865C>T (p.Ser622Leu)
c.1804C>T (p.Arg602Trp)
 gnomAD v4
12g.114672208G>CCA386868161TBX3c.1805C>G (p.Ser602Trp)
c.1865C>G (p.Ser622Trp)
c.1804C>G (p.Arg602Gly)
 gnomAD v4
12g.114672208G>TCA386868162TBX3c.1805C>A (p.Ser602Ter)
c.1865C>A (p.Ser622Ter)
c.1804C>A (p.Arg602=)
 gnomAD v4
12g.114672209A>CCA386868163TBX3c.1804T>G (p.Ser602Ala)
c.1864T>G (p.Ser622Ala)
c.1803T>G (p.Ala601=)
12g.114672209A>GCA386868164TBX3c.1804T>C (p.Ser602Pro)
c.1864T>C (p.Ser622Pro)
c.1803T>C (p.Ala601=)
 dbSNP
12g.114672209A>TCA386868165TBX3c.1804T>A (p.Ser602Thr)
c.1864T>A (p.Ser622Thr)
c.1803T>A (p.Ala601=)
 gnomAD v4
12g.114672210G>ACA386868166TBX3c.1803C>T (p.Ser601=)
c.1863C>T (p.Ser621=)
c.1802C>T (p.Ala601Val)
 gnomAD v4
12g.114672210G>CCA386868167TBX3c.1803C>G (p.Ser601Arg)
c.1863C>G (p.Ser621Arg)
c.1802C>G (p.Ala601Gly)
 dbSNP gnomAD v2 gnomAD v4
12g.114672210G=CA2064762378TBX3c.1803C= (p.Ser601=)
c.1863C= (p.Ser621=)
c.1802C= (p.Ala601=)
12g.114672210G>TCA386868168TBX3c.1803C>A (p.Ser601Arg)
c.1863C>A (p.Ser621Arg)
c.1802C>A (p.Ala601Asp)
 gnomAD v4
12g.114672211C>ACA386868169TBX3c.1802G>T (p.Ser601Ile)
c.1862G>T (p.Ser621Ile)
c.1801G>T (p.Ala601Ser)
 dbSNP gnomAD v4
12g.114672211C>GCA386868171TBX3c.1802G>C (p.Ser601Thr)
c.1862G>C (p.Ser621Thr)
c.1801G>C (p.Ala601Pro)
 dbSNP
12g.114672211C>TCA386868170TBX3c.1802G>A (p.Ser601Asn)
c.1862G>A (p.Ser621Asn)
c.1801G>A (p.Ala601Thr)
 dbSNP gnomAD v4
12g.114672212T>ACA386868172TBX3c.1801A>T (p.Ser601Cys)
c.1861A>T (p.Ser621Cys)
c.1800A>T (p.Pro600=)
 gnomAD v4
12g.114672212T>CCA386868173TBX3c.1801A>G (p.Ser601Gly)
c.1861A>G (p.Ser621Gly)
c.1800A>G (p.Pro600=)
 gnomAD v4
12g.114672212T>GCA386868174TBX3c.1801A>C (p.Ser601Arg)
c.1861A>C (p.Ser621Arg)
c.1800A>C (p.Pro600=)
 dbSNP
12g.114672212T=CA2064762381TBX3c.1801A= (p.Ser601=)
c.1861A= (p.Ser621=)
c.1800A= (p.Pro600=)
12g.114672213G>ACA6809844TBX3c.1800C>T (p.Ser600=)
c.1860C>T (p.Ser620=)
c.1799C>T (p.Pro600Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114672213G>CCA386868175TBX3c.1800C>G (p.Ser600=)
c.1860C>G (p.Ser620=)
c.1799C>G (p.Pro600Arg)
12g.114672213G=CA2064762385TBX3c.1800C= (p.Ser600=)
c.1860C= (p.Ser620=)
c.1799C= (p.Pro600=)
12g.114672213G>TCA386868176TBX3c.1800C>A (p.Ser600=)
c.1860C>A (p.Ser620=)
c.1799C>A (p.Pro600Gln)
 gnomAD v4
12g.114672215_114672232dupCA2621129663TBX3c.1783_1800dup (p.Ser600_Ser601insSerSerAlaAlaAlaSer)
c.1843_1860dup (p.Ser620_Ser621insSerSerAlaAlaAlaSer)
c.1783_1799dup
 gnomAD v4
12g.114672219_114672233dupCA952072930TBX3c.1786_1800dup (p.Ser600_Ser601insSerAlaAlaAlaSer)
c.1846_1860dup (p.Ser620_Ser621insSerAlaAlaAlaSer)
c.1786-1_1799dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.114672219_114672233delCA2621129664TBX3c.1786_1800del (p.Ser596_Ser600del)
c.1846_1860del (p.Ser616_Ser620del)
c.1786-1_1799del
 gnomAD v4
12g.114672214G>ACA386868177TBX3c.1799C>T (p.Ser600Phe)
c.1859C>T (p.Ser620Phe)
c.1798C>T (p.Pro600Ser)
 gnomAD v4
12g.114672214G>CCA386868178TBX3c.1799C>G (p.Ser600Cys)
c.1859C>G (p.Ser620Cys)
c.1798C>G (p.Pro600Ala)
 gnomAD v4
12g.114672214G>TCA386868179TBX3c.1799C>A (p.Ser600Tyr)
c.1859C>A (p.Ser620Tyr)
c.1798C>A (p.Pro600Thr)
12g.114672215A>CCA386868181TBX3c.1798T>G (p.Ser600Ala)
c.1858T>G (p.Ser620Ala)
c.1797T>G (p.Pro599=)
12g.114672215A>GCA386868182TBX3c.1798T>C (p.Ser600Pro)
c.1858T>C (p.Ser620Pro)
c.1797T>C (p.Pro599=)
 dbSNP gnomAD v4
12g.114672215A>TCA386868180TBX3c.1798T>A (p.Ser600Thr)
c.1858T>A (p.Ser620Thr)
c.1797T>A (p.Pro599=)
 dbSNP
12g.114672215dupCA2621129665TBX3c.1798dup (p.Ser600PhefsTer?)
c.1858dup (p.Ser620PhefsTer?)
c.1797dup (p.Pro600SerfsTer?)
 gnomAD v4
12g.114672216G>ACA6809845TBX3c.1797C>T (p.Ala599=)
c.1857C>T (p.Ala619=)
c.1796C>T (p.Pro599Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.114672216G>CCA386868183TBX3c.1797C>G (p.Ala599=)
c.1857C>G (p.Ala619=)
c.1796C>G (p.Pro599Arg)
12g.114672216G=CA2064762393TBX3c.1797C= (p.Ala599=)
c.1857C= (p.Ala619=)
c.1796C= (p.Pro599=)
12g.114672216G>TCA386868184TBX3c.1797C>A (p.Ala599=)
c.1857C>A (p.Ala619=)
c.1796C>A (p.Pro599His)
 gnomAD v4
12g.114672219_114672236dupCA2621129666TBX3c.1780_1797dup (p.Ala599_Ser600insAlaSerSerAlaAlaAla)
c.1840_1857dup (p.Ala619_Ser620insAlaSerSerAlaAlaAla)
c.1780_1796dup
 gnomAD v4
12g.114672217G>ACA386868185TBX3c.1796C>T (p.Ala599Val)
c.1856C>T (p.Ala619Val)
c.1795C>T (p.Pro599Ser)
 gnomAD v4
12g.114672217G>CCA386868186TBX3c.1796C>G (p.Ala599Gly)
c.1856C>G (p.Ala619Gly)
c.1795C>G (p.Pro599Ala)
 dbSNP
12g.114672217G>TCA386868187TBX3c.1796C>A (p.Ala599Asp)
c.1856C>A (p.Ala619Asp)
c.1795C>A (p.Pro599Thr)
 gnomAD v4
12g.114672218C>ACA386868188TBX3c.1795G>T (p.Ala599Ser)
c.1855G>T (p.Ala619Ser)
c.1794G>T (p.Gln598His)
 dbSNP gnomAD v4
12g.114672218C=CA2064762396TBX3c.1795G= (p.Ala599=)
c.1855G= (p.Ala619=)
c.1794G= (p.Gln598=)
12g.114672218C>GCA386868189TBX3c.1795G>C (p.Ala599Pro)
c.1855G>C (p.Ala619Pro)
c.1794G>C (p.Gln598His)
 dbSNP
12g.114672218C>TCA386868190TBX3c.1795G>A (p.Ala599Thr)
c.1855G>A (p.Ala619Thr)
c.1794G>A (p.Gln598=)
 ClinVar dbSNP gnomAD v4
12g.114672219T>ACA386868191TBX3c.1794A>T (p.Ala598=)
c.1854A>T (p.Ala618=)
c.1793A>T (p.Gln598Leu)
12g.114672219T>CCA386868192TBX3c.1794A>G (p.Ala598=)
c.1854A>G (p.Ala618=)
c.1793A>G (p.Gln598Arg)
 gnomAD v4
12g.114672219T>GCA386868193TBX3c.1794A>C (p.Ala598=)
c.1854A>C (p.Ala618=)
c.1793A>C (p.Gln598Pro)
 dbSNP
12g.114672219T=CA2064762399TBX3c.1794A= (p.Ala598=)
c.1854A= (p.Ala618=)
c.1793A= (p.Gln598=)
12g.114672220G>ACA386868196TBX3c.1793C>T (p.Ala598Val)
c.1853C>T (p.Ala618Val)
c.1792C>T (p.Gln598Ter)
 dbSNP gnomAD v4
12g.114672220G>CCA386868194TBX3c.1793C>G (p.Ala598Gly)
c.1853C>G (p.Ala618Gly)
c.1792C>G (p.Gln598Glu)
 dbSNP
12g.114672220G>TCA386868195TBX3c.1793C>A (p.Ala598Glu)
c.1853C>A (p.Ala618Glu)
c.1792C>A (p.Gln598Lys)
 gnomAD v4
12g.114672225_114672239dupCA608055448TBX3c.1779_1793dup (p.Ala598_Ala599insAlaSerSerAlaAla)
c.1839_1853dup (p.Ala618_Ala619insAlaSerSerAlaAla)
c.1779_1792dup
 dbSNP gnomAD v2 gnomAD v4
12g.114672225_114672239delCA2621129667TBX3c.1779_1793del (p.Ala594_Ala598del)
c.1839_1853del (p.Ala614_Ala618del)
c.1779_1792del
 gnomAD v4

Number of alleles fetched