| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8117792_8126946del | CA2573154518 | ClinVar | ||
| 17 | g.8121575G>A | CA397986813 | HES7 | c.689C>T (p.Pro230Leu) c.674C>T (p.Pro225Leu) c.794C>T (p.Pro265Leu) c.785C>T (p.Pro262Leu) c.776C>T (p.Pro259Leu) c.647C>T (p.Pro216Leu) n.69+1761G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121575G>C | CA397986811 | HES7 | c.689C>G (p.Pro230Arg) c.674C>G (p.Pro225Arg) c.794C>G (p.Pro265Arg) c.785C>G (p.Pro262Arg) c.776C>G (p.Pro259Arg) c.647C>G (p.Pro216Arg) n.69+1761G>C | dbSNP |
| 17 | g.8121575G= | CA2246159771 | HES7 | c.689C= (p.Pro230=) c.674C= (p.Pro225=) c.794C= (p.Pro265=) c.785C= (p.Pro262=) c.776C= (p.Pro259=) c.647C= (p.Pro216=) n.69+1761G= | |
| 17 | g.8121575G>T | CA397986808 | HES7 | c.689C>A (p.Pro230His) c.674C>A (p.Pro225His) c.794C>A (p.Pro265His) c.785C>A (p.Pro262His) c.776C>A (p.Pro259His) c.647C>A (p.Pro216His) n.69+1761G>T | |
| 17 | g.8121576G>A | CA397986817 | HES7 | c.688C>T (p.Pro230Ser) c.673C>T (p.Pro225Ser) c.793C>T (p.Pro265Ser) c.784C>T (p.Pro262Ser) c.775C>T (p.Pro259Ser) c.646C>T (p.Pro216Ser) n.69+1762G>A | gnomAD v4 |
| 17 | g.8121576G>C | CA397986819 | HES7 | c.688C>G (p.Pro230Ala) c.673C>G (p.Pro225Ala) c.793C>G (p.Pro265Ala) c.784C>G (p.Pro262Ala) c.775C>G (p.Pro259Ala) c.646C>G (p.Pro216Ala) n.69+1762G>C | |
| 17 | g.8121576G>T | CA397986822 | HES7 | c.688C>A (p.Pro230Thr) c.673C>A (p.Pro225Thr) c.793C>A (p.Pro265Thr) c.784C>A (p.Pro262Thr) c.775C>A (p.Pro259Thr) c.646C>A (p.Pro216Thr) n.69+1762G>T | gnomAD v4 |
| 17 | g.8121577C>A | CA397986824 | HES7 | c.687G>T (p.Trp229Cys) c.672G>T (p.Trp224Cys) c.792G>T (p.Trp264Cys) c.783G>T (p.Trp261Cys) c.774G>T (p.Trp258Cys) c.645G>T (p.Trp215Cys) n.69+1763C>A | gnomAD v4 |
| 17 | g.8121577C= | CA2246159774 | HES7 | c.687G= (p.Trp229=) c.672G= (p.Trp224=) c.792G= (p.Trp264=) c.783G= (p.Trp261=) c.774G= (p.Trp258=) c.645G= (p.Trp215=) n.69+1763C= | |
| 17 | g.8121577C>G | CA397986826 | HES7 | c.687G>C (p.Trp229Cys) c.672G>C (p.Trp224Cys) c.792G>C (p.Trp264Cys) c.783G>C (p.Trp261Cys) c.774G>C (p.Trp258Cys) c.645G>C (p.Trp215Cys) n.69+1763C>G | gnomAD v4 |
| 17 | g.8121577C>T | CA287536904 | HES7 | c.687G>A (p.Trp229Ter) c.672G>A (p.Trp224Ter) c.792G>A (p.Trp264Ter) c.783G>A (p.Trp261Ter) c.774G>A (p.Trp258Ter) c.645G>A (p.Trp215Ter) n.69+1763C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121578C>A | CA397986832 | HES7 | c.686G>T (p.Trp229Leu) c.671G>T (p.Trp224Leu) c.791G>T (p.Trp264Leu) c.782G>T (p.Trp261Leu) c.773G>T (p.Trp258Leu) c.644G>T (p.Trp215Leu) n.69+1764C>A | gnomAD v4 |
| 17 | g.8121578C>G | CA397986837 | HES7 | c.686G>C (p.Trp229Ser) c.671G>C (p.Trp224Ser) c.791G>C (p.Trp264Ser) c.782G>C (p.Trp261Ser) c.773G>C (p.Trp258Ser) c.644G>C (p.Trp215Ser) n.69+1764C>G | gnomAD v4 |
| 17 | g.8121578C>T | CA397986834 | HES7 | c.686G>A (p.Trp229Ter) c.671G>A (p.Trp224Ter) c.791G>A (p.Trp264Ter) c.782G>A (p.Trp261Ter) c.773G>A (p.Trp258Ter) c.644G>A (p.Trp215Ter) n.69+1764C>T | gnomAD v4 |
| 17 | g.8121579A>C | CA397986843 | HES7 | c.685T>G (p.Trp229Gly) c.670T>G (p.Trp224Gly) c.790T>G (p.Trp264Gly) c.781T>G (p.Trp261Gly) c.772T>G (p.Trp258Gly) c.643T>G (p.Trp215Gly) n.69+1765A>C | gnomAD v4 |
| 17 | g.8121579A>G | CA397986846 | HES7 | c.685T>C (p.Trp229Arg) c.670T>C (p.Trp224Arg) c.790T>C (p.Trp264Arg) c.781T>C (p.Trp261Arg) c.772T>C (p.Trp258Arg) c.643T>C (p.Trp215Arg) n.69+1765A>G | gnomAD v4 |
| 17 | g.8121579A>T | CA397986852 | HES7 | c.685T>A (p.Trp229Arg) c.670T>A (p.Trp224Arg) c.790T>A (p.Trp264Arg) c.781T>A (p.Trp261Arg) c.772T>A (p.Trp258Arg) c.643T>A (p.Trp215Arg) n.69+1765A>T | |
| 17 | g.8121580A>C | CA497760779 | HES7 | c.684T>G (p.Pro228=) c.669T>G (p.Pro223=) c.789T>G (p.Pro263=) c.780T>G (p.Pro260=) c.771T>G (p.Pro257=) c.642T>G (p.Pro214=) n.69+1766A>C | gnomAD v4 |
| 17 | g.8121580A>G | CA497760781 | HES7 | c.684T>C (p.Pro228=) c.669T>C (p.Pro223=) c.789T>C (p.Pro263=) c.780T>C (p.Pro260=) c.771T>C (p.Pro257=) c.642T>C (p.Pro214=) n.69+1766A>G | gnomAD v4 |
| 17 | g.8121580A>T | CA497760780 | HES7 | c.684T>A (p.Pro228=) c.669T>A (p.Pro223=) c.789T>A (p.Pro263=) c.780T>A (p.Pro260=) c.771T>A (p.Pro257=) c.642T>A (p.Pro214=) n.69+1766A>T | gnomAD v4 |
| 17 | g.8121581G>A | CA397986856 | HES7 | c.683C>T (p.Pro228Leu) c.668C>T (p.Pro223Leu) c.788C>T (p.Pro263Leu) c.779C>T (p.Pro260Leu) c.770C>T (p.Pro257Leu) c.641C>T (p.Pro214Leu) n.69+1767G>A | |
| 17 | g.8121581G>C | CA397986859 | HES7 | c.683C>G (p.Pro228Arg) c.668C>G (p.Pro223Arg) c.788C>G (p.Pro263Arg) c.779C>G (p.Pro260Arg) c.770C>G (p.Pro257Arg) c.641C>G (p.Pro214Arg) n.69+1767G>C | |
| 17 | g.8121581G>T | CA397986861 | HES7 | c.683C>A (p.Pro228His) c.668C>A (p.Pro223His) c.788C>A (p.Pro263His) c.779C>A (p.Pro260His) c.770C>A (p.Pro257His) c.641C>A (p.Pro214His) n.69+1767G>T | gnomAD v4 |
| 17 | g.8121582G>A | CA287536918 | HES7 | c.682C>T (p.Pro228Ser) c.667C>T (p.Pro223Ser) c.787C>T (p.Pro263Ser) c.778C>T (p.Pro260Ser) c.769C>T (p.Pro257Ser) c.640C>T (p.Pro214Ser) n.69+1768G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121582G>C | CA397986865 | HES7 | c.682C>G (p.Pro228Ala) c.667C>G (p.Pro223Ala) c.787C>G (p.Pro263Ala) c.778C>G (p.Pro260Ala) c.769C>G (p.Pro257Ala) c.640C>G (p.Pro214Ala) n.69+1768G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.8121582G= | CA2246159782 | HES7 | c.682C= (p.Pro228=) c.667C= (p.Pro223=) c.787C= (p.Pro263=) c.778C= (p.Pro260=) c.769C= (p.Pro257=) c.640C= (p.Pro214=) n.69+1768G= | |
| 17 | g.8121582G>T | CA397986868 | HES7 | c.682C>A (p.Pro228Thr) c.667C>A (p.Pro223Thr) c.787C>A (p.Pro263Thr) c.778C>A (p.Pro260Thr) c.769C>A (p.Pro257Thr) c.640C>A (p.Pro214Thr) n.69+1768G>T | gnomAD v4 |
| 17 | g.8121583T>A | CA397986872 | HES7 | c.681A>T (p.Arg227Ser) c.666A>T (p.Arg222Ser) c.786A>T (p.Arg262Ser) c.777A>T (p.Arg259Ser) c.768A>T (p.Arg256Ser) c.639A>T (p.Arg213Ser) n.69+1769T>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.8121583T>C | CA497760782 | HES7 | c.681A>G (p.Arg227=) c.666A>G (p.Arg222=) c.786A>G (p.Arg262=) c.777A>G (p.Arg259=) c.768A>G (p.Arg256=) c.639A>G (p.Arg213=) n.69+1769T>C | gnomAD v4 |
| 17 | g.8121583T>G | CA287536929 | HES7 | c.681A>C (p.Arg227Ser) c.666A>C (p.Arg222Ser) c.786A>C (p.Arg262Ser) c.777A>C (p.Arg259Ser) c.768A>C (p.Arg256Ser) c.639A>C (p.Arg213Ser) n.69+1769T>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121583T= | CA2246159795 | HES7 | c.681A= (p.Arg227=) c.666A= (p.Arg222=) c.786A= (p.Arg262=) c.777A= (p.Arg259=) c.768A= (p.Arg256=) c.639A= (p.Arg213=) n.69+1769T= | |
| 17 | g.8121584C>A | CA397986880 | HES7 | c.680G>T (p.Arg227Ile) c.665G>T (p.Arg222Ile) c.785G>T (p.Arg262Ile) c.776G>T (p.Arg259Ile) c.767G>T (p.Arg256Ile) c.638G>T (p.Arg213Ile) n.69+1770C>A | gnomAD v4 |
| 17 | g.8121584C>G | CA397986878 | HES7 | c.680G>C (p.Arg227Thr) c.665G>C (p.Arg222Thr) c.785G>C (p.Arg262Thr) c.776G>C (p.Arg259Thr) c.767G>C (p.Arg256Thr) c.638G>C (p.Arg213Thr) n.69+1770C>G | |
| 17 | g.8121584C>T | CA397986875 | HES7 | c.680G>A (p.Arg227Lys) c.665G>A (p.Arg222Lys) c.785G>A (p.Arg262Lys) c.776G>A (p.Arg259Lys) c.767G>A (p.Arg256Lys) c.638G>A (p.Arg213Lys) n.69+1770C>T | gnomAD v4 |
| 17 | g.8121585T>A | CA397986882 | HES7 | c.679A>T (p.Arg227Ter) c.664A>T (p.Arg222Ter) c.784A>T (p.Arg262Ter) c.775A>T (p.Arg259Ter) c.766A>T (p.Arg256Ter) c.637A>T (p.Arg213Ter) n.69+1771T>A | |
| 17 | g.8121585T>C | CA397986885 | HES7 | c.679A>G (p.Arg227Gly) c.664A>G (p.Arg222Gly) c.784A>G (p.Arg262Gly) c.775A>G (p.Arg259Gly) c.766A>G (p.Arg256Gly) c.637A>G (p.Arg213Gly) n.69+1771T>C | gnomAD v4 |
| 17 | g.8121585T>G | CA497760783 | HES7 | c.679A>C (p.Arg227=) c.664A>C (p.Arg222=) c.784A>C (p.Arg262=) c.775A>C (p.Arg259=) c.766A>C (p.Arg256=) c.637A>C (p.Arg213=) n.69+1771T>G | |
| 17 | g.8121586C>A | CA397986887 | HES7 | c.678G>T (p.Trp226Cys) c.663G>T (p.Trp221Cys) c.783G>T (p.Trp261Cys) c.774G>T (p.Trp258Cys) c.765G>T (p.Trp255Cys) c.636G>T (p.Trp212Cys) n.69+1772C>A | gnomAD v4 |
| 17 | g.8121586C>G | CA397986891 | HES7 | c.678G>C (p.Trp226Cys) c.663G>C (p.Trp221Cys) c.783G>C (p.Trp261Cys) c.774G>C (p.Trp258Cys) c.765G>C (p.Trp255Cys) c.636G>C (p.Trp212Cys) n.69+1772C>G | |
| 17 | g.8121586C>T | CA397986890 | HES7 | c.678G>A (p.Trp226Ter) c.663G>A (p.Trp221Ter) c.783G>A (p.Trp261Ter) c.774G>A (p.Trp258Ter) c.765G>A (p.Trp255Ter) c.636G>A (p.Trp212Ter) n.69+1772C>T | gnomAD v4 |
| 17 | g.8121587del | CA2635936626 | HES7 | c.678del (p.Trp226Ter) c.663del (p.Trp221Ter) c.783del (p.Trp261Ter) c.774del (p.Trp258Ter) c.765del (p.Trp255Ter) c.636del (p.Trp212Ter) n.69+1773del | gnomAD v4 |
| 17 | g.8121587C>A | CA397986895 | HES7 | c.677G>T (p.Trp226Leu) c.662G>T (p.Trp221Leu) c.782G>T (p.Trp261Leu) c.773G>T (p.Trp258Leu) c.764G>T (p.Trp255Leu) c.635G>T (p.Trp212Leu) n.69+1773C>A | gnomAD v4 |
| 17 | g.8121587C>G | CA397986899 | HES7 | c.677G>C (p.Trp226Ser) c.662G>C (p.Trp221Ser) c.782G>C (p.Trp261Ser) c.773G>C (p.Trp258Ser) c.764G>C (p.Trp255Ser) c.635G>C (p.Trp212Ser) n.69+1773C>G | |
| 17 | g.8121587C>T | CA397986896 | HES7 | c.677G>A (p.Trp226Ter) c.662G>A (p.Trp221Ter) c.782G>A (p.Trp261Ter) c.773G>A (p.Trp258Ter) c.764G>A (p.Trp255Ter) c.635G>A (p.Trp212Ter) n.69+1773C>T | gnomAD v4 |
| 17 | g.8121588A>C | CA397986902 | HES7 | c.676T>G (p.Trp226Gly) c.661T>G (p.Trp221Gly) c.781T>G (p.Trp261Gly) c.772T>G (p.Trp258Gly) c.763T>G (p.Trp255Gly) c.634T>G (p.Trp212Gly) n.69+1774A>C | |
| 17 | g.8121588A>G | CA397986903 | HES7 | c.676T>C (p.Trp226Arg) c.661T>C (p.Trp221Arg) c.781T>C (p.Trp261Arg) c.772T>C (p.Trp258Arg) c.763T>C (p.Trp255Arg) c.634T>C (p.Trp212Arg) n.69+1774A>G | gnomAD v4 |
| 17 | g.8121588A>T | CA397986906 | HES7 | c.676T>A (p.Trp226Arg) c.661T>A (p.Trp221Arg) c.781T>A (p.Trp261Arg) c.772T>A (p.Trp258Arg) c.763T>A (p.Trp255Arg) c.634T>A (p.Trp212Arg) n.69+1774A>T | |
| 17 | g.8121589del | CA2635936634 | HES7 | c.675del (p.Trp226GlyfsTer?) c.660del (p.Trp221GlyfsTer?) c.780del (p.Trp261GlyfsTer?) c.771del (p.Trp258GlyfsTer?) c.762del (p.Trp255GlyfsTer?) c.633del (p.Trp212GlyfsTer?) n.69+1775del | gnomAD v4 |
| 17 | g.8121589G>A | CA287536948 | HES7 | c.675C>T (p.Phe225=) c.660C>T (p.Phe220=) c.780C>T (p.Phe260=) c.771C>T (p.Phe257=) c.762C>T (p.Phe254=) c.633C>T (p.Phe211=) n.69+1775G>A | dbSNP gnomAD v4 |
| 17 | g.8121589G>C | CA397986909 | HES7 | c.675C>G (p.Phe225Leu) c.660C>G (p.Phe220Leu) c.780C>G (p.Phe260Leu) c.771C>G (p.Phe257Leu) c.762C>G (p.Phe254Leu) c.633C>G (p.Phe211Leu) n.69+1775G>C | gnomAD v4 |
| 17 | g.8121589G= | CA2246159797 | HES7 | c.675C= (p.Phe225=) c.660C= (p.Phe220=) c.780C= (p.Phe260=) c.771C= (p.Phe257=) c.762C= (p.Phe254=) c.633C= (p.Phe211=) n.69+1775G= | |
| 17 | g.8121589G>T | CA397986911 | HES7 | c.675C>A (p.Phe225Leu) c.660C>A (p.Phe220Leu) c.780C>A (p.Phe260Leu) c.771C>A (p.Phe257Leu) c.762C>A (p.Phe254Leu) c.633C>A (p.Phe211Leu) n.69+1775G>T | |
| 17 | g.8121590A>C | CA397986915 | HES7 | c.674T>G (p.Phe225Cys) c.659T>G (p.Phe220Cys) c.779T>G (p.Phe260Cys) c.770T>G (p.Phe257Cys) c.761T>G (p.Phe254Cys) c.632T>G (p.Phe211Cys) n.69+1776A>C | |
| 17 | g.8121590A>G | CA397986918 | HES7 | c.674T>C (p.Phe225Ser) c.659T>C (p.Phe220Ser) c.779T>C (p.Phe260Ser) c.770T>C (p.Phe257Ser) c.761T>C (p.Phe254Ser) c.632T>C (p.Phe211Ser) n.69+1776A>G | gnomAD v4 |
| 17 | g.8121590A>T | CA397986919 | HES7 | c.674T>A (p.Phe225Tyr) c.659T>A (p.Phe220Tyr) c.779T>A (p.Phe260Tyr) c.770T>A (p.Phe257Tyr) c.761T>A (p.Phe254Tyr) c.632T>A (p.Phe211Tyr) n.69+1776A>T | |
| 17 | g.8121592del | CA2635936638 | HES7 | c.674del (p.Phe225SerfsTer?) c.659del (p.Phe220SerfsTer?) c.779del (p.Phe260SerfsTer?) c.770del (p.Phe257SerfsTer?) c.761del (p.Phe254SerfsTer?) c.632del (p.Phe211SerfsTer?) n.69+1778del | gnomAD v4 |
| 17 | g.8121591A>C | CA397986923 | HES7 | c.673T>G (p.Phe225Val) c.658T>G (p.Phe220Val) c.778T>G (p.Phe260Val) c.769T>G (p.Phe257Val) c.760T>G (p.Phe254Val) c.631T>G (p.Phe211Val) n.69+1777A>C | |
| 17 | g.8121591A>G | CA397986926 | HES7 | c.673T>C (p.Phe225Leu) c.658T>C (p.Phe220Leu) c.778T>C (p.Phe260Leu) c.769T>C (p.Phe257Leu) c.760T>C (p.Phe254Leu) c.631T>C (p.Phe211Leu) n.69+1777A>G | gnomAD v4 |
| 17 | g.8121591A>T | CA397986927 | HES7 | c.673T>A (p.Phe225Ile) c.658T>A (p.Phe220Ile) c.778T>A (p.Phe260Ile) c.769T>A (p.Phe257Ile) c.760T>A (p.Phe254Ile) c.631T>A (p.Phe211Ile) n.69+1777A>T | |
| 17 | g.8121592A>C | CA497760784 | HES7 | c.672T>G (p.Ala224=) c.657T>G (p.Ala219=) c.777T>G (p.Ala259=) c.768T>G (p.Ala256=) c.759T>G (p.Ala253=) c.630T>G (p.Ala210=) n.69+1778A>C | |
| 17 | g.8121592A>G | CA497760785 | HES7 | c.672T>C (p.Ala224=) c.657T>C (p.Ala219=) c.777T>C (p.Ala259=) c.768T>C (p.Ala256=) c.759T>C (p.Ala253=) c.630T>C (p.Ala210=) n.69+1778A>G | gnomAD v4 |
| 17 | g.8121592A>T | CA497760786 | HES7 | c.672T>A (p.Ala224=) c.657T>A (p.Ala219=) c.777T>A (p.Ala259=) c.768T>A (p.Ala256=) c.759T>A (p.Ala253=) c.630T>A (p.Ala210=) n.69+1778A>T | |
| 17 | g.8121593G>A | CA397986932 | HES7 | c.671C>T (p.Ala224Val) c.656C>T (p.Ala219Val) c.776C>T (p.Ala259Val) c.767C>T (p.Ala256Val) c.758C>T (p.Ala253Val) c.629C>T (p.Ala210Val) n.69+1779G>A | gnomAD v4 |
| 17 | g.8121593G>C | CA397986929 | HES7 | c.671C>G (p.Ala224Gly) c.656C>G (p.Ala219Gly) c.776C>G (p.Ala259Gly) c.767C>G (p.Ala256Gly) c.758C>G (p.Ala253Gly) c.629C>G (p.Ala210Gly) n.69+1779G>C | gnomAD v4 |
| 17 | g.8121593G>T | CA397986930 | HES7 | c.671C>A (p.Ala224Asp) c.656C>A (p.Ala219Asp) c.776C>A (p.Ala259Asp) c.767C>A (p.Ala256Asp) c.758C>A (p.Ala253Asp) c.629C>A (p.Ala210Asp) n.69+1779G>T | gnomAD v4 |
| 17 | g.8121594C>A | CA397986934 | HES7 | c.670G>T (p.Ala224Ser) c.655G>T (p.Ala219Ser) c.775G>T (p.Ala259Ser) c.766G>T (p.Ala256Ser) c.757G>T (p.Ala253Ser) c.628G>T (p.Ala210Ser) n.69+1780C>A | gnomAD v4 |
| 17 | g.8121594C>G | CA397986936 | HES7 | c.670G>C (p.Ala224Pro) c.655G>C (p.Ala219Pro) c.775G>C (p.Ala259Pro) c.766G>C (p.Ala256Pro) c.757G>C (p.Ala253Pro) c.628G>C (p.Ala210Pro) n.69+1780C>G | |
| 17 | g.8121594C>T | CA397986937 | HES7 | c.670G>A (p.Ala224Thr) c.655G>A (p.Ala219Thr) c.775G>A (p.Ala259Thr) c.766G>A (p.Ala256Thr) c.757G>A (p.Ala253Thr) c.628G>A (p.Ala210Thr) n.69+1780C>T | gnomAD v4 |
| 17 | g.8121595G>A | CA497760787 | HES7 | c.669C>T (p.Pro223=) c.654C>T (p.Pro218=) c.774C>T (p.Pro258=) c.765C>T (p.Pro255=) c.756C>T (p.Pro252=) c.627C>T (p.Pro209=) n.69+1781G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121595G>C | CA497760788 | HES7 | c.669C>G (p.Pro223=) c.654C>G (p.Pro218=) c.774C>G (p.Pro258=) c.765C>G (p.Pro255=) c.756C>G (p.Pro252=) c.627C>G (p.Pro209=) n.69+1781G>C | gnomAD v4 |
| 17 | g.8121595G= | CA2246159800 | HES7 | c.669C= (p.Pro223=) c.654C= (p.Pro218=) c.774C= (p.Pro258=) c.765C= (p.Pro255=) c.756C= (p.Pro252=) c.627C= (p.Pro209=) n.69+1781G= | |
| 17 | g.8121595G>T | CA497760789 | HES7 | c.669C>A (p.Pro223=) c.654C>A (p.Pro218=) c.774C>A (p.Pro258=) c.765C>A (p.Pro255=) c.756C>A (p.Pro252=) c.627C>A (p.Pro209=) n.69+1781G>T | gnomAD v4 |
| 17 | g.8121597del | CA2635936647 | HES7 | c.669del (p.Ala224LeufsTer?) c.654del (p.Ala219LeufsTer?) c.774del (p.Ala259LeufsTer?) c.765del (p.Ala256LeufsTer?) c.756del (p.Ala253LeufsTer?) c.627del (p.Ala210LeufsTer?) n.69+1783del | gnomAD v4 |
| 17 | g.8121599_8121607dup | CA2576161668 | HES7 | c.661_669dup (p.Pro223_Ala224insProProPro) c.646_654dup (p.Pro218_Ala219insProProPro) c.766_774dup (p.Pro258_Ala259insProProPro) c.757_765dup (p.Pro255_Ala256insProProPro) c.748_756dup (p.Pro252_Ala253insProProPro) c.619_627dup (p.Pro209_Ala210insProProPro) n.69+1785_69+1793dup | gnomAD v4 |
| 17 | g.8121596G>A | CA397986939 | HES7 | c.668C>T (p.Pro223Leu) c.653C>T (p.Pro218Leu) c.773C>T (p.Pro258Leu) c.764C>T (p.Pro255Leu) c.755C>T (p.Pro252Leu) c.626C>T (p.Pro209Leu) n.69+1782G>A | gnomAD v4 |
| 17 | g.8121596G>C | CA397986941 | HES7 | c.668C>G (p.Pro223Arg) c.653C>G (p.Pro218Arg) c.773C>G (p.Pro258Arg) c.764C>G (p.Pro255Arg) c.755C>G (p.Pro252Arg) c.626C>G (p.Pro209Arg) n.69+1782G>C | |
| 17 | g.8121596G>T | CA397986943 | HES7 | c.668C>A (p.Pro223His) c.653C>A (p.Pro218His) c.773C>A (p.Pro258His) c.764C>A (p.Pro255His) c.755C>A (p.Pro252His) c.626C>A (p.Pro209His) n.69+1782G>T | gnomAD v4 |
| 17 | g.8121604_8121648del | CA2635936654 | HES7 | c.624_668del (p.His209_Pro223del) c.609_653del (p.His204_Pro218del) c.729_773del (p.His244_Pro258del) c.720_764del (p.His241_Pro255del) c.711_755del (p.His238_Pro252del) c.582_626del (p.His195_Pro209del) n.69+1790_69+1834del | gnomAD v4 |
| 17 | g.8121604_8121657del | CA2635936652 | HES7 | c.615_668del (p.Pro206_Pro223del) c.600_653del (p.Pro201_Pro218del) c.720_773del (p.Pro241_Pro258del) c.711_764del (p.Pro238_Pro255del) c.702_755del (p.Pro235_Pro252del) c.573_626del (p.Pro192_Pro209del) n.69+1790_69+1843del | gnomAD v4 |
| 17 | g.8121597G>A | CA397986945 | HES7 | c.667C>T (p.Pro223Ser) c.652C>T (p.Pro218Ser) c.772C>T (p.Pro258Ser) c.763C>T (p.Pro255Ser) c.754C>T (p.Pro252Ser) c.625C>T (p.Pro209Ser) n.69+1783G>A | dbSNP gnomAD v4 |
| 17 | g.8121597G>C | CA397986947 | HES7 | c.667C>G (p.Pro223Ala) c.652C>G (p.Pro218Ala) c.772C>G (p.Pro258Ala) c.763C>G (p.Pro255Ala) c.754C>G (p.Pro252Ala) c.625C>G (p.Pro209Ala) n.69+1783G>C | gnomAD v4 |
| 17 | g.8121597G= | CA2246159803 | HES7 | c.667C= (p.Pro223=) c.652C= (p.Pro218=) c.772C= (p.Pro258=) c.763C= (p.Pro255=) c.754C= (p.Pro252=) c.625C= (p.Pro209=) n.69+1783G= | |
| 17 | g.8121597G>T | CA397986948 | HES7 | c.667C>A (p.Pro223Thr) c.652C>A (p.Pro218Thr) c.772C>A (p.Pro258Thr) c.763C>A (p.Pro255Thr) c.754C>A (p.Pro252Thr) c.625C>A (p.Pro209Thr) n.69+1783G>T | gnomAD v4 |
| 17 | g.8121598C>A | CA497760790 | HES7 | c.666G>T (p.Pro222=) c.651G>T (p.Pro217=) c.771G>T (p.Pro257=) c.762G>T (p.Pro254=) c.753G>T (p.Pro251=) c.624G>T (p.Pro208=) n.69+1784C>A | dbSNP gnomAD v4 |
| 17 | g.8121598C= | CA2246159810 | HES7 | c.666G= (p.Pro222=) c.651G= (p.Pro217=) c.771G= (p.Pro257=) c.762G= (p.Pro254=) c.753G= (p.Pro251=) c.624G= (p.Pro208=) n.69+1784C= | |
| 17 | g.8121598C>G | CA497760791 | HES7 | c.666G>C (p.Pro222=) c.651G>C (p.Pro217=) c.771G>C (p.Pro257=) c.762G>C (p.Pro254=) c.753G>C (p.Pro251=) c.624G>C (p.Pro208=) n.69+1784C>G | gnomAD v4 |
| 17 | g.8121598C>T | CA497760792 | HES7 | c.666G>A (p.Pro222=) c.651G>A (p.Pro217=) c.771G>A (p.Pro257=) c.762G>A (p.Pro254=) c.753G>A (p.Pro251=) c.624G>A (p.Pro208=) n.69+1784C>T | gnomAD v4 |
| 17 | g.8121599G>A | CA397986951 | HES7 | c.665C>T (p.Pro222Leu) c.650C>T (p.Pro217Leu) c.770C>T (p.Pro257Leu) c.761C>T (p.Pro254Leu) c.752C>T (p.Pro251Leu) c.623C>T (p.Pro208Leu) n.69+1785G>A | gnomAD v4 |
| 17 | g.8121599G>C | CA397986950 | HES7 | c.665C>G (p.Pro222Arg) c.650C>G (p.Pro217Arg) c.770C>G (p.Pro257Arg) c.761C>G (p.Pro254Arg) c.752C>G (p.Pro251Arg) c.623C>G (p.Pro208Arg) n.69+1785G>C | |
| 17 | g.8121599G>T | CA397986949 | HES7 | c.665C>A (p.Pro222Gln) c.650C>A (p.Pro217Gln) c.770C>A (p.Pro257Gln) c.761C>A (p.Pro254Gln) c.752C>A (p.Pro251Gln) c.623C>A (p.Pro208Gln) n.69+1785G>T | gnomAD v4 |
| 17 | g.8121604_8121654del | CA2635936662 | HES7 | c.615_665del (p.Pro206_Pro222del) c.600_650del (p.Pro201_Pro217del) c.720_770del (p.Pro241_Pro257del) c.711_761del (p.Pro238_Pro254del) c.702_752del (p.Pro235_Pro251del) c.573_623del (p.Pro192_Pro208del) n.69+1790_69+1840del | gnomAD v4 |
| 17 | g.8121600G>A | CA397986952 | HES7 | c.664C>T (p.Pro222Ser) c.649C>T (p.Pro217Ser) c.769C>T (p.Pro257Ser) c.760C>T (p.Pro254Ser) c.751C>T (p.Pro251Ser) c.622C>T (p.Pro208Ser) n.69+1786G>A | gnomAD v4 |
| 17 | g.8121600G>C | CA397986954 | HES7 | c.664C>G (p.Pro222Ala) c.649C>G (p.Pro217Ala) c.769C>G (p.Pro257Ala) c.760C>G (p.Pro254Ala) c.751C>G (p.Pro251Ala) c.622C>G (p.Pro208Ala) n.69+1786G>C | |
| 17 | g.8121600G>T | CA397986955 | HES7 | c.664C>A (p.Pro222Thr) c.649C>A (p.Pro217Thr) c.769C>A (p.Pro257Thr) c.760C>A (p.Pro254Thr) c.751C>A (p.Pro251Thr) c.622C>A (p.Pro208Thr) n.69+1786G>T | gnomAD v4 |
| 17 | g.8121606_8121614dup | CA2635936669 | HES7 | c.656_664dup (p.Pro221_Pro222insLeuProPro) c.641_649dup (p.Pro216_Pro217insLeuProPro) c.761_769dup (p.Pro256_Pro257insLeuProPro) c.752_760dup (p.Pro253_Pro254insLeuProPro) c.743_751dup (p.Pro250_Pro251insLeuProPro) c.614_622dup (p.Pro207_Pro208insLeuProPro) n.69+1792_69+1800dup | gnomAD v4 |
| 17 | g.8121606_8121614del | CA2635936668 | HES7 | c.656_664del (p.Leu219_Pro221del) c.641_649del (p.Leu214_Pro216del) c.761_769del (p.Leu254_Pro256del) c.752_760del (p.Leu251_Pro253del) c.743_751del (p.Leu248_Pro250del) c.614_622del (p.Leu205_Pro207del) n.69+1792_69+1800del | gnomAD v4 |
| 17 | g.8121601C>A | CA497760793 | HES7 | c.663G>T (p.Pro221=) c.648G>T (p.Pro216=) c.768G>T (p.Pro256=) c.759G>T (p.Pro253=) c.750G>T (p.Pro250=) c.621G>T (p.Pro207=) n.69+1787C>A | gnomAD v4 |
| 17 | g.8121601C= | CA2246159814 | HES7 | c.663G= (p.Pro221=) c.648G= (p.Pro216=) c.768G= (p.Pro256=) c.759G= (p.Pro253=) c.750G= (p.Pro250=) c.621G= (p.Pro207=) n.69+1787C= | |
| 17 | g.8121601C>G | CA497760795 | HES7 | c.663G>C (p.Pro221=) c.648G>C (p.Pro216=) c.768G>C (p.Pro256=) c.759G>C (p.Pro253=) c.750G>C (p.Pro250=) c.621G>C (p.Pro207=) n.69+1787C>G | dbSNP gnomAD v4 |
| 17 | g.8121601C>T | CA497760794 | HES7 | c.663G>A (p.Pro221=) c.648G>A (p.Pro216=) c.768G>A (p.Pro256=) c.759G>A (p.Pro253=) c.750G>A (p.Pro250=) c.621G>A (p.Pro207=) n.69+1787C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121601dup | CA2808397532 | HES7 | c.663dup (p.Pro222AlafsTer24) c.648dup (p.Pro217AlafsTer?) c.648dup (p.Pro217AlafsTer24) c.768dup (p.Pro257AlafsTer24) c.759dup (p.Pro254AlafsTer24) c.750dup (p.Pro251AlafsTer24) c.621dup (p.Pro208AlafsTer24) n.69+1787dup | |
| 17 | g.8121601_8121602delinsCG | CA2246159817 | HES7 | c.662_663delinsCG (p.Pro221=) c.647_648delinsCG (p.Pro216=) c.767_768delinsCG (p.Pro256=) c.758_759delinsCG (p.Pro253=) c.749_750delinsCG (p.Pro250=) c.620_621delinsCG (p.Pro207=) n.69+1787_69+1788delinsCG | |
| 17 | g.8121602G>A | CA287536964 | HES7 | c.662C>T (p.Pro221Leu) c.647C>T (p.Pro216Leu) c.767C>T (p.Pro256Leu) c.758C>T (p.Pro253Leu) c.749C>T (p.Pro250Leu) c.620C>T (p.Pro207Leu) n.69+1788G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121602G>C | CA397986959 | HES7 | c.662C>G (p.Pro221Arg) c.647C>G (p.Pro216Arg) c.767C>G (p.Pro256Arg) c.758C>G (p.Pro253Arg) c.749C>G (p.Pro250Arg) c.620C>G (p.Pro207Arg) n.69+1788G>C | gnomAD v4 |
| 17 | g.8121602G= | CA2246159821 | HES7 | c.662C= (p.Pro221=) c.647C= (p.Pro216=) c.767C= (p.Pro256=) c.758C= (p.Pro253=) c.749C= (p.Pro250=) c.620C= (p.Pro207=) n.69+1788G= | |
| 17 | g.8121602G>T | CA397986961 | HES7 | c.662C>A (p.Pro221Gln) c.647C>A (p.Pro216Gln) c.767C>A (p.Pro256Gln) c.758C>A (p.Pro253Gln) c.749C>A (p.Pro250Gln) c.620C>A (p.Pro207Gln) n.69+1788G>T | gnomAD v4 |
| 17 | g.8121606dup | CA2635936677 | HES7 | c.662dup (p.Pro222AlafsTer24) c.647dup (p.Pro217AlafsTer?) c.647dup (p.Pro217AlafsTer24) c.767dup (p.Pro257AlafsTer24) c.758dup (p.Pro254AlafsTer24) c.749dup (p.Pro251AlafsTer24) c.620dup (p.Pro208AlafsTer24) n.69+1792dup | gnomAD v4 |
| 17 | g.8121604_8121606dup | CA2635936679 | HES7 | c.660_662dup (p.Pro221_Pro222insPro) c.645_647dup (p.Pro216_Pro217insPro) c.765_767dup (p.Pro256_Pro257insPro) c.756_758dup (p.Pro253_Pro254insPro) c.747_749dup (p.Pro250_Pro251insPro) c.618_620dup (p.Pro207_Pro208insPro) n.69+1790_69+1792dup | gnomAD v4 |
| 17 | g.8121606del | CA624724232 | HES7 | c.662del (p.Pro221ArgfsTer?) c.647del (p.Pro216ArgfsTer?) c.767del (p.Pro256ArgfsTer?) c.758del (p.Pro253ArgfsTer?) c.749del (p.Pro250ArgfsTer?) c.620del (p.Pro207ArgfsTer?) n.69+1792del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121603G>A | CA397986964 | HES7 | c.661C>T (p.Pro221Ser) c.646C>T (p.Pro216Ser) c.766C>T (p.Pro256Ser) c.757C>T (p.Pro253Ser) c.748C>T (p.Pro250Ser) c.619C>T (p.Pro207Ser) n.69+1789G>A | gnomAD v4 |
| 17 | g.8121603G>C | CA397986966 | HES7 | c.661C>G (p.Pro221Ala) c.646C>G (p.Pro216Ala) c.766C>G (p.Pro256Ala) c.757C>G (p.Pro253Ala) c.748C>G (p.Pro250Ala) c.619C>G (p.Pro207Ala) n.69+1789G>C | gnomAD v4 |
| 17 | g.8121603G>T | CA397986968 | HES7 | c.661C>A (p.Pro221Thr) c.646C>A (p.Pro216Thr) c.766C>A (p.Pro256Thr) c.757C>A (p.Pro253Thr) c.748C>A (p.Pro250Thr) c.619C>A (p.Pro207Thr) n.69+1789G>T | gnomAD v4 |
| 17 | g.8121604G>A | CA497760796 | HES7 | c.660C>T (p.Pro220=) c.645C>T (p.Pro215=) c.765C>T (p.Pro255=) c.756C>T (p.Pro252=) c.747C>T (p.Pro249=) c.618C>T (p.Pro206=) n.69+1790G>A | gnomAD v4 |
| 17 | g.8121604G>C | CA497760797 | HES7 | c.660C>G (p.Pro220=) c.645C>G (p.Pro215=) c.765C>G (p.Pro255=) c.756C>G (p.Pro252=) c.747C>G (p.Pro249=) c.618C>G (p.Pro206=) n.69+1790G>C | |
| 17 | g.8121604G>T | CA497760798 | HES7 | c.660C>A (p.Pro220=) c.645C>A (p.Pro215=) c.765C>A (p.Pro255=) c.756C>A (p.Pro252=) c.747C>A (p.Pro249=) c.618C>A (p.Pro206=) n.69+1790G>T | gnomAD v4 |
| 17 | g.8121605G>A | CA397986971 | HES7 | c.659C>T (p.Pro220Leu) c.644C>T (p.Pro215Leu) c.764C>T (p.Pro255Leu) c.755C>T (p.Pro252Leu) c.746C>T (p.Pro249Leu) c.617C>T (p.Pro206Leu) n.69+1791G>A | gnomAD v4 |
| 17 | g.8121605G>C | CA397986973 | HES7 | c.659C>G (p.Pro220Arg) c.644C>G (p.Pro215Arg) c.764C>G (p.Pro255Arg) c.755C>G (p.Pro252Arg) c.746C>G (p.Pro249Arg) c.617C>G (p.Pro206Arg) n.69+1791G>C | |
| 17 | g.8121605G>T | CA397986975 | HES7 | c.659C>A (p.Pro220His) c.644C>A (p.Pro215His) c.764C>A (p.Pro255His) c.755C>A (p.Pro252His) c.746C>A (p.Pro249His) c.617C>A (p.Pro206His) n.69+1791G>T | gnomAD v4 |
| 17 | g.8121605_8121606insCT | CA2635936693 | HES7 | c.658_659insAG (p.Pro220GlnfsTer?) c.643_644insAG (p.Pro215GlnfsTer?) c.763_764insAG (p.Pro255GlnfsTer?) c.754_755insAG (p.Pro252GlnfsTer?) c.745_746insAG (p.Pro249GlnfsTer?) c.616_617insAG (p.Pro206GlnfsTer?) n.69+1791_69+1792insCT | gnomAD v4 |
| 17 | g.8121606G>A | CA397986984 | HES7 | c.658C>T (p.Pro220Ser) c.643C>T (p.Pro215Ser) c.763C>T (p.Pro255Ser) c.754C>T (p.Pro252Ser) c.745C>T (p.Pro249Ser) c.616C>T (p.Pro206Ser) n.69+1792G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121606G>C | CA397986978 | HES7 | c.658C>G (p.Pro220Ala) c.643C>G (p.Pro215Ala) c.763C>G (p.Pro255Ala) c.754C>G (p.Pro252Ala) c.745C>G (p.Pro249Ala) c.616C>G (p.Pro206Ala) n.69+1792G>C | |
| 17 | g.8121606G= | CA2246159824 | HES7 | c.658C= (p.Pro220=) c.643C= (p.Pro215=) c.763C= (p.Pro255=) c.754C= (p.Pro252=) c.745C= (p.Pro249=) c.616C= (p.Pro206=) n.69+1792G= | |
| 17 | g.8121606G>T | CA397986980 | HES7 | c.658C>A (p.Pro220Thr) c.643C>A (p.Pro215Thr) c.763C>A (p.Pro255Thr) c.754C>A (p.Pro252Thr) c.745C>A (p.Pro249Thr) c.616C>A (p.Pro206Thr) n.69+1792G>T | gnomAD v4 |
| 17 | g.8121607C>A | CA497760799 | HES7 | c.657G>T (p.Leu219=) c.642G>T (p.Leu214=) c.762G>T (p.Leu254=) c.753G>T (p.Leu251=) c.744G>T (p.Leu248=) c.615G>T (p.Leu205=) n.69+1793C>A | gnomAD v4 |
| 17 | g.8121607C>G | CA497760801 | HES7 | c.657G>C (p.Leu219=) c.642G>C (p.Leu214=) c.762G>C (p.Leu254=) c.753G>C (p.Leu251=) c.744G>C (p.Leu248=) c.615G>C (p.Leu205=) n.69+1793C>G | gnomAD v4 |
| 17 | g.8121607C>T | CA497760800 | HES7 | c.657G>A (p.Leu219=) c.642G>A (p.Leu214=) c.762G>A (p.Leu254=) c.753G>A (p.Leu251=) c.744G>A (p.Leu248=) c.615G>A (p.Leu205=) n.69+1793C>T | gnomAD v4 |
| 17 | g.8121607_8121608del | CA2635936698 | HES7 | c.656_657del (p.Leu219ProfsTer26) c.641_642del (p.Leu214ProfsTer?) c.641_642del (p.Leu214ProfsTer26) c.761_762del (p.Leu254ProfsTer26) c.752_753del (p.Leu251ProfsTer26) c.743_744del (p.Leu248ProfsTer26) c.614_615del (p.Leu205ProfsTer26) n.69+1793_69+1794del | gnomAD v4 |
| 17 | g.8121608A>C | CA397986986 | HES7 | c.656T>G (p.Leu219Arg) c.641T>G (p.Leu214Arg) c.761T>G (p.Leu254Arg) c.752T>G (p.Leu251Arg) c.743T>G (p.Leu248Arg) c.614T>G (p.Leu205Arg) n.69+1794A>C | |
| 17 | g.8121608A>G | CA397986989 | HES7 | c.656T>C (p.Leu219Pro) c.641T>C (p.Leu214Pro) c.761T>C (p.Leu254Pro) c.752T>C (p.Leu251Pro) c.743T>C (p.Leu248Pro) c.614T>C (p.Leu205Pro) n.69+1794A>G | gnomAD v4 |
| 17 | g.8121608A>T | CA397986991 | HES7 | c.656T>A (p.Leu219Gln) c.641T>A (p.Leu214Gln) c.761T>A (p.Leu254Gln) c.752T>A (p.Leu251Gln) c.743T>A (p.Leu248Gln) c.614T>A (p.Leu205Gln) n.69+1794A>T | gnomAD v4 |
| 17 | g.8121608_8121609insCAGGTGG | CA2635936711 | HES7 | c.655_656insCCACCTG (p.Leu219ProfsTer29) c.640_641insCCACCTG (p.Leu214ProfsTer?) c.640_641insCCACCTG (p.Leu214ProfsTer29) c.760_761insCCACCTG (p.Leu254ProfsTer29) c.751_752insCCACCTG (p.Leu251ProfsTer29) c.742_743insCCACCTG (p.Leu248ProfsTer29) c.613_614insCCACCTG (p.Leu205ProfsTer29) n.69+1794_69+1795insCAGGTGG | gnomAD v4 |
| 17 | g.8121608_8121609insCAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGG | CA2808397533 | HES7 | c.655_656insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG (p.Leu219ProfsTer?) c.640_641insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG (p.Leu214ProfsTer?) c.760_761insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG (p.Leu254ProfsTer?) c.751_752insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG (p.Leu251ProfsTer?) c.742_743insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG (p.Leu248ProfsTer?) c.613_614insCCCTTCCCTCACCCCTGCCGGGCCCCTGCCCTGCCCACCTG (p.Leu205ProfsTer?) n.69+1794_69+1795insCAGGTGGGCAGGGCAGGGGCCCGGCAGGGGTGAGGGAAGGG | |
| 17 | g.8121609del | CA2635936710 | HES7 | c.655del (p.Leu219CysfsTer?) c.640del (p.Leu214CysfsTer?) c.760del (p.Leu254CysfsTer?) c.751del (p.Leu251CysfsTer?) c.742del (p.Leu248CysfsTer?) c.613del (p.Leu205CysfsTer?) n.69+1795del | gnomAD v4 |
| 17 | g.8121609G>A | CA497760802 | HES7 | c.655C>T (p.Leu219=) c.640C>T (p.Leu214=) c.760C>T (p.Leu254=) c.751C>T (p.Leu251=) c.742C>T (p.Leu248=) c.613C>T (p.Leu205=) n.69+1795G>A | gnomAD v4 |
| 17 | g.8121609G>C | CA397986993 | HES7 | c.655C>G (p.Leu219Val) c.640C>G (p.Leu214Val) c.760C>G (p.Leu254Val) c.751C>G (p.Leu251Val) c.742C>G (p.Leu248Val) c.613C>G (p.Leu205Val) n.69+1795G>C | dbSNP gnomAD v4 |
| 17 | g.8121609G= | CA2246159828 | HES7 | c.655C= (p.Leu219=) c.640C= (p.Leu214=) c.760C= (p.Leu254=) c.751C= (p.Leu251=) c.742C= (p.Leu248=) c.613C= (p.Leu205=) n.69+1795G= | |
| 17 | g.8121609G>T | CA397986995 | HES7 | c.655C>A (p.Leu219Met) c.640C>A (p.Leu214Met) c.760C>A (p.Leu254Met) c.751C>A (p.Leu251Met) c.742C>A (p.Leu248Met) c.613C>A (p.Leu205Met) n.69+1795G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121612_8121623del | CA2635936709 | HES7 | c.644_655del (p.Pro215_Pro218del) c.629_640del (p.Pro210_Pro213del) c.749_760del (p.Pro250_Pro253del) c.740_751del (p.Pro247_Pro250del) c.731_742del (p.Pro244_Pro247del) c.602_613del (p.Pro201_Pro204del) n.69+1798_69+1809del | gnomAD v4 |
| 17 | g.8121610C>A | CA497760803 | HES7 | c.654G>T (p.Pro218=) c.639G>T (p.Pro213=) c.759G>T (p.Pro253=) c.750G>T (p.Pro250=) c.741G>T (p.Pro247=) c.612G>T (p.Pro204=) n.69+1796C>A | gnomAD v4 |
| 17 | g.8121610C= | CA2246159832 | HES7 | c.654G= (p.Pro218=) c.639G= (p.Pro213=) c.759G= (p.Pro253=) c.750G= (p.Pro250=) c.741G= (p.Pro247=) c.612G= (p.Pro204=) n.69+1796C= | |
| 17 | g.8121610C>G | CA497760804 | HES7 | c.654G>C (p.Pro218=) c.639G>C (p.Pro213=) c.759G>C (p.Pro253=) c.750G>C (p.Pro250=) c.741G>C (p.Pro247=) c.612G>C (p.Pro204=) n.69+1796C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121610C>T | CA497760805 | HES7 | c.654G>A (p.Pro218=) c.639G>A (p.Pro213=) c.759G>A (p.Pro253=) c.750G>A (p.Pro250=) c.741G>A (p.Pro247=) c.612G>A (p.Pro204=) n.69+1796C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121610_8121611delinsCG | CA2246159834 | HES7 | c.653_654delinsCG (p.Pro218=) c.638_639delinsCG (p.Pro213=) c.758_759delinsCG (p.Pro253=) c.749_750delinsCG (p.Pro250=) c.740_741delinsCG (p.Pro247=) c.611_612delinsCG (p.Pro204=) n.69+1796_69+1797delinsCG | |
| 17 | g.8121610_8121611insA | CA2635936713 | HES7 | c.653_654insT (p.Leu219AlafsTer27) c.638_639insT (p.Leu214AlafsTer?) c.638_639insT (p.Leu214AlafsTer27) c.758_759insT (p.Leu254AlafsTer27) c.749_750insT (p.Leu251AlafsTer27) c.740_741insT (p.Leu248AlafsTer27) c.611_612insT (p.Leu205AlafsTer27) n.69+1796_69+1797insA | gnomAD v4 |
| 17 | g.8121611G>A | CA397986999 | HES7 | c.653C>T (p.Pro218Leu) c.638C>T (p.Pro213Leu) c.758C>T (p.Pro253Leu) c.749C>T (p.Pro250Leu) c.740C>T (p.Pro247Leu) c.611C>T (p.Pro204Leu) n.69+1797G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121611G>C | CA397987002 | HES7 | c.653C>G (p.Pro218Arg) c.638C>G (p.Pro213Arg) c.758C>G (p.Pro253Arg) c.749C>G (p.Pro250Arg) c.740C>G (p.Pro247Arg) c.611C>G (p.Pro204Arg) n.69+1797G>C | |
| 17 | g.8121611G= | CA2246159837 | HES7 | c.653C= (p.Pro218=) c.638C= (p.Pro213=) c.758C= (p.Pro253=) c.749C= (p.Pro250=) c.740C= (p.Pro247=) c.611C= (p.Pro204=) n.69+1797G= | |
| 17 | g.8121611G>T | CA397987005 | HES7 | c.653C>A (p.Pro218Gln) c.638C>A (p.Pro213Gln) c.758C>A (p.Pro253Gln) c.749C>A (p.Pro250Gln) c.740C>A (p.Pro247Gln) c.611C>A (p.Pro204Gln) n.69+1797G>T | gnomAD v4 |
| 17 | g.8121614del | CA624724234 | HES7 | c.653del (p.Pro218ArgfsTer?) c.638del (p.Pro213ArgfsTer?) c.758del (p.Pro253ArgfsTer?) c.749del (p.Pro250ArgfsTer?) c.740del (p.Pro247ArgfsTer?) c.611del (p.Pro204ArgfsTer?) n.69+1800del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121612G>A | CA397987007 | HES7 | c.652C>T (p.Pro218Ser) c.637C>T (p.Pro213Ser) c.757C>T (p.Pro253Ser) c.748C>T (p.Pro250Ser) c.739C>T (p.Pro247Ser) c.610C>T (p.Pro204Ser) n.69+1798G>A | gnomAD v4 |
| 17 | g.8121612G>C | CA397987010 | HES7 | c.652C>G (p.Pro218Ala) c.637C>G (p.Pro213Ala) c.757C>G (p.Pro253Ala) c.748C>G (p.Pro250Ala) c.739C>G (p.Pro247Ala) c.610C>G (p.Pro204Ala) n.69+1798G>C | |
| 17 | g.8121612G>T | CA397987012 | HES7 | c.652C>A (p.Pro218Thr) c.637C>A (p.Pro213Thr) c.757C>A (p.Pro253Thr) c.748C>A (p.Pro250Thr) c.739C>A (p.Pro247Thr) c.610C>A (p.Pro204Thr) n.69+1798G>T | gnomAD v4 |
| 17 | g.8121613G>A | CA497760806 | HES7 | c.651C>T (p.Ala217=) c.636C>T (p.Ala212=) c.756C>T (p.Ala252=) c.747C>T (p.Ala249=) c.738C>T (p.Ala246=) c.609C>T (p.Ala203=) n.69+1799G>A | gnomAD v4 |
| 17 | g.8121613G>C | CA497760807 | HES7 | c.651C>G (p.Ala217=) c.636C>G (p.Ala212=) c.756C>G (p.Ala252=) c.747C>G (p.Ala249=) c.738C>G (p.Ala246=) c.609C>G (p.Ala203=) n.69+1799G>C | |
| 17 | g.8121613G>T | CA497760808 | HES7 | c.651C>A (p.Ala217=) c.636C>A (p.Ala212=) c.756C>A (p.Ala252=) c.747C>A (p.Ala249=) c.738C>A (p.Ala246=) c.609C>A (p.Ala203=) n.69+1799G>T | gnomAD v4 |
| 17 | g.8121614G>A | CA397987016 | HES7 | c.650C>T (p.Ala217Val) c.635C>T (p.Ala212Val) c.755C>T (p.Ala252Val) c.746C>T (p.Ala249Val) c.737C>T (p.Ala246Val) c.608C>T (p.Ala203Val) n.69+1800G>A | gnomAD v4 |
| 17 | g.8121614G>C | CA397987018 | HES7 | c.650C>G (p.Ala217Gly) c.635C>G (p.Ala212Gly) c.755C>G (p.Ala252Gly) c.746C>G (p.Ala249Gly) c.737C>G (p.Ala246Gly) c.608C>G (p.Ala203Gly) n.69+1800G>C | gnomAD v4 |
| 17 | g.8121614G= | CA2246159842 | HES7 | c.650C= (p.Ala217=) c.635C= (p.Ala212=) c.755C= (p.Ala252=) c.746C= (p.Ala249=) c.737C= (p.Ala246=) c.608C= (p.Ala203=) n.69+1800G= | |
| 17 | g.8121614G>T | CA397987014 | HES7 | c.650C>A (p.Ala217Asp) c.635C>A (p.Ala212Asp) c.755C>A (p.Ala252Asp) c.746C>A (p.Ala249Asp) c.737C>A (p.Ala246Asp) c.608C>A (p.Ala203Asp) n.69+1800G>T | dbSNP gnomAD v4 |
| 17 | g.8121614_8121617del | CA2635936740 | HES7 | c.647_650del (p.Lys216ThrfsTer?) c.632_635del (p.Lys211ThrfsTer?) c.752_755del (p.Lys251ThrfsTer?) c.743_746del (p.Lys248ThrfsTer?) c.734_737del (p.Lys245ThrfsTer?) c.605_608del (p.Lys202ThrfsTer?) n.69+1800_69+1803del | gnomAD v4 |
| 17 | g.8121615C>A | CA397987027 | HES7 | c.649G>T (p.Ala217Ser) c.634G>T (p.Ala212Ser) c.754G>T (p.Ala252Ser) c.745G>T (p.Ala249Ser) c.736G>T (p.Ala246Ser) c.607G>T (p.Ala203Ser) n.69+1801C>A | gnomAD v4 |
| 17 | g.8121615C>G | CA397987022 | HES7 | c.649G>C (p.Ala217Pro) c.634G>C (p.Ala212Pro) c.754G>C (p.Ala252Pro) c.745G>C (p.Ala249Pro) c.736G>C (p.Ala246Pro) c.607G>C (p.Ala203Pro) n.69+1801C>G | gnomAD v4 |
| 17 | g.8121615C>T | CA397987024 | HES7 | c.649G>A (p.Ala217Thr) c.634G>A (p.Ala212Thr) c.754G>A (p.Ala252Thr) c.745G>A (p.Ala249Thr) c.736G>A (p.Ala246Thr) c.607G>A (p.Ala203Thr) n.69+1801C>T | gnomAD v4 |
| 17 | g.8121616C>A | CA397987029 | HES7 | c.648G>T (p.Lys216Asn) c.633G>T (p.Lys211Asn) c.753G>T (p.Lys251Asn) c.744G>T (p.Lys248Asn) c.735G>T (p.Lys245Asn) c.606G>T (p.Lys202Asn) n.69+1802C>A | gnomAD v4 |
| 17 | g.8121616C= | CA2246159844 | HES7 | c.648G= (p.Lys216=) c.633G= (p.Lys211=) c.753G= (p.Lys251=) c.744G= (p.Lys248=) c.735G= (p.Lys245=) c.606G= (p.Lys202=) n.69+1802C= | |
| 17 | g.8121616C>G | CA397987032 | HES7 | c.648G>C (p.Lys216Asn) c.633G>C (p.Lys211Asn) c.753G>C (p.Lys251Asn) c.744G>C (p.Lys248Asn) c.735G>C (p.Lys245Asn) c.606G>C (p.Lys202Asn) n.69+1802C>G | gnomAD v4 |
| 17 | g.8121616C>T | CA497760809 | HES7 | c.648G>A (p.Lys216=) c.633G>A (p.Lys211=) c.753G>A (p.Lys251=) c.744G>A (p.Lys248=) c.735G>A (p.Lys245=) c.606G>A (p.Lys202=) n.69+1802C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121617T>A | CA397987035 | HES7 | c.647A>T (p.Lys216Met) c.632A>T (p.Lys211Met) c.752A>T (p.Lys251Met) c.743A>T (p.Lys248Met) c.734A>T (p.Lys245Met) c.605A>T (p.Lys202Met) n.69+1803T>A | gnomAD v4 |
| 17 | g.8121617T>C | CA397987038 | HES7 | c.647A>G (p.Lys216Arg) c.632A>G (p.Lys211Arg) c.752A>G (p.Lys251Arg) c.743A>G (p.Lys248Arg) c.734A>G (p.Lys245Arg) c.605A>G (p.Lys202Arg) n.69+1803T>C | gnomAD v4 |
| 17 | g.8121617T>G | CA397987039 | HES7 | c.647A>C (p.Lys216Thr) c.632A>C (p.Lys211Thr) c.752A>C (p.Lys251Thr) c.743A>C (p.Lys248Thr) c.734A>C (p.Lys245Thr) c.605A>C (p.Lys202Thr) n.69+1803T>G | gnomAD v4 |
| 17 | g.8121618del | CA2635936759 | HES7 | c.647del (p.Lys216ArgfsTer?) c.632del (p.Lys211ArgfsTer?) c.752del (p.Lys251ArgfsTer?) c.743del (p.Lys248ArgfsTer?) c.734del (p.Lys245ArgfsTer?) c.605del (p.Lys202ArgfsTer?) n.69+1804del | gnomAD v4 |
| 17 | g.8121618T>A | CA397987041 | HES7 | c.646A>T (p.Lys216Ter) c.631A>T (p.Lys211Ter) c.751A>T (p.Lys251Ter) c.742A>T (p.Lys248Ter) c.733A>T (p.Lys245Ter) c.604A>T (p.Lys202Ter) n.69+1804T>A | |
| 17 | g.8121618T>C | CA397987044 | HES7 | c.646A>G (p.Lys216Glu) c.631A>G (p.Lys211Glu) c.751A>G (p.Lys251Glu) c.742A>G (p.Lys248Glu) c.733A>G (p.Lys245Glu) c.604A>G (p.Lys202Glu) n.69+1804T>C | gnomAD v4 |
| 17 | g.8121618T>G | CA397987045 | HES7 | c.646A>C (p.Lys216Gln) c.631A>C (p.Lys211Gln) c.751A>C (p.Lys251Gln) c.742A>C (p.Lys248Gln) c.733A>C (p.Lys245Gln) c.604A>C (p.Lys202Gln) n.69+1804T>G | |
| 17 | g.8121618_8121619delinsTG | CA2246159847 | HES7 | c.645_646delinsCA (p.Pro215=) c.630_631delinsCA (p.Pro210=) c.750_751delinsCA (p.Pro250=) c.741_742delinsCA (p.Pro247=) c.732_733delinsCA (p.Pro244=) c.603_604delinsCA (p.Pro201=) n.69+1804_69+1805delinsTG | |
| 17 | g.8121619G>A | CA497760810 | HES7 | c.645C>T (p.Pro215=) c.630C>T (p.Pro210=) c.750C>T (p.Pro250=) c.741C>T (p.Pro247=) c.732C>T (p.Pro244=) c.603C>T (p.Pro201=) n.69+1805G>A | gnomAD v4 |
| 17 | g.8121619G>C | CA497760811 | HES7 | c.645C>G (p.Pro215=) c.630C>G (p.Pro210=) c.750C>G (p.Pro250=) c.741C>G (p.Pro247=) c.732C>G (p.Pro244=) c.603C>G (p.Pro201=) n.69+1805G>C | gnomAD v4 |
| 17 | g.8121619G>T | CA497760812 | HES7 | c.645C>A (p.Pro215=) c.630C>A (p.Pro210=) c.750C>A (p.Pro250=) c.741C>A (p.Pro247=) c.732C>A (p.Pro244=) c.603C>A (p.Pro201=) n.69+1805G>T | gnomAD v4 |
| 17 | g.8121621del | CA624724235 | HES7 | c.645del (p.Lys216ArgfsTer?) c.630del (p.Lys211ArgfsTer?) c.750del (p.Lys251ArgfsTer?) c.741del (p.Lys248ArgfsTer?) c.732del (p.Lys245ArgfsTer?) c.603del (p.Lys202ArgfsTer?) n.69+1807del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121620G>A | CA397987050 | HES7 | c.644C>T (p.Pro215Leu) c.629C>T (p.Pro210Leu) c.749C>T (p.Pro250Leu) c.740C>T (p.Pro247Leu) c.731C>T (p.Pro244Leu) c.602C>T (p.Pro201Leu) n.69+1806G>A | gnomAD v4 |
| 17 | g.8121620G>C | CA397987053 | HES7 | c.644C>G (p.Pro215Arg) c.629C>G (p.Pro210Arg) c.749C>G (p.Pro250Arg) c.740C>G (p.Pro247Arg) c.731C>G (p.Pro244Arg) c.602C>G (p.Pro201Arg) n.69+1806G>C | |
| 17 | g.8121620G>T | CA397987055 | HES7 | c.644C>A (p.Pro215His) c.629C>A (p.Pro210His) c.749C>A (p.Pro250His) c.740C>A (p.Pro247His) c.731C>A (p.Pro244His) c.602C>A (p.Pro201His) n.69+1806G>T | gnomAD v4 |
| 17 | g.8121621G>A | CA397987063 | HES7 | c.643C>T (p.Pro215Ser) c.628C>T (p.Pro210Ser) c.748C>T (p.Pro250Ser) c.739C>T (p.Pro247Ser) c.730C>T (p.Pro244Ser) c.601C>T (p.Pro201Ser) n.69+1807G>A | gnomAD v4 |
| 17 | g.8121621G>C | CA397987058 | HES7 | c.643C>G (p.Pro215Ala) c.628C>G (p.Pro210Ala) c.748C>G (p.Pro250Ala) c.739C>G (p.Pro247Ala) c.730C>G (p.Pro244Ala) c.601C>G (p.Pro201Ala) n.69+1807G>C | |
| 17 | g.8121621G>T | CA397987061 | HES7 | c.643C>A (p.Pro215Thr) c.628C>A (p.Pro210Thr) c.748C>A (p.Pro250Thr) c.739C>A (p.Pro247Thr) c.730C>A (p.Pro244Thr) c.601C>A (p.Pro201Thr) n.69+1807G>T | gnomAD v4 |
| 17 | g.8121622C>A | CA497760813 | HES7 | c.642G>T (p.Ala214=) c.627G>T (p.Ala209=) c.747G>T (p.Ala249=) c.738G>T (p.Ala246=) c.729G>T (p.Ala243=) c.600G>T (p.Ala200=) n.69+1808C>A | gnomAD v4 |
| 17 | g.8121622C>G | CA497760815 | HES7 | c.642G>C (p.Ala214=) c.627G>C (p.Ala209=) c.747G>C (p.Ala249=) c.738G>C (p.Ala246=) c.729G>C (p.Ala243=) c.600G>C (p.Ala200=) n.69+1808C>G | |
| 17 | g.8121622C>T | CA497760814 | HES7 | c.642G>A (p.Ala214=) c.627G>A (p.Ala209=) c.747G>A (p.Ala249=) c.738G>A (p.Ala246=) c.729G>A (p.Ala243=) c.600G>A (p.Ala200=) n.69+1808C>T | gnomAD v4 |
| 17 | g.8121623G>A | CA397987066 | HES7 | c.641C>T (p.Ala214Val) c.626C>T (p.Ala209Val) c.746C>T (p.Ala249Val) c.737C>T (p.Ala246Val) c.728C>T (p.Ala243Val) c.599C>T (p.Ala200Val) n.69+1809G>A | dbSNP gnomAD v4 |
| 17 | g.8121623G>C | CA287536986 | HES7 | c.641C>G (p.Ala214Gly) c.626C>G (p.Ala209Gly) c.746C>G (p.Ala249Gly) c.737C>G (p.Ala246Gly) c.728C>G (p.Ala243Gly) c.599C>G (p.Ala200Gly) n.69+1809G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121623G= | CA2246159855 | HES7 | c.641C= (p.Ala214=) c.626C= (p.Ala209=) c.746C= (p.Ala249=) c.737C= (p.Ala246=) c.728C= (p.Ala243=) c.599C= (p.Ala200=) n.69+1809G= | |
| 17 | g.8121623G>T | CA397987070 | HES7 | c.641C>A (p.Ala214Glu) c.626C>A (p.Ala209Glu) c.746C>A (p.Ala249Glu) c.737C>A (p.Ala246Glu) c.728C>A (p.Ala243Glu) c.599C>A (p.Ala200Glu) n.69+1809G>T | gnomAD v4 |
| 17 | g.8121624C>A | CA397987072 | HES7 | c.640G>T (p.Ala214Ser) c.625G>T (p.Ala209Ser) c.745G>T (p.Ala249Ser) c.736G>T (p.Ala246Ser) c.727G>T (p.Ala243Ser) c.598G>T (p.Ala200Ser) n.69+1810C>A | gnomAD v4 |
| 17 | g.8121624C= | CA2246159859 | HES7 | c.640G= (p.Ala214=) c.625G= (p.Ala209=) c.745G= (p.Ala249=) c.736G= (p.Ala246=) c.727G= (p.Ala243=) c.598G= (p.Ala200=) n.69+1810C= | |
| 17 | g.8121624C>G | CA397987079 | HES7 | c.640G>C (p.Ala214Pro) c.625G>C (p.Ala209Pro) c.745G>C (p.Ala249Pro) c.736G>C (p.Ala246Pro) c.727G>C (p.Ala243Pro) c.598G>C (p.Ala200Pro) n.69+1810C>G | dbSNP |
| 17 | g.8121624C>T | CA397987081 | HES7 | c.640G>A (p.Ala214Thr) c.625G>A (p.Ala209Thr) c.745G>A (p.Ala249Thr) c.736G>A (p.Ala246Thr) c.727G>A (p.Ala243Thr) c.598G>A (p.Ala200Thr) n.69+1810C>T | gnomAD v4 |
| 17 | g.8121627del | CA2635936815 | HES7 | c.640del (p.Ala214ArgfsTer?) c.625del (p.Ala209ArgfsTer?) c.745del (p.Ala249ArgfsTer?) c.736del (p.Ala246ArgfsTer?) c.727del (p.Ala243ArgfsTer?) c.598del (p.Ala200ArgfsTer?) n.69+1813del | gnomAD v4 |
| 17 | g.8121625C>A | CA497760816 | HES7 | c.639G>T (p.Gly213=) c.624G>T (p.Gly208=) c.744G>T (p.Gly248=) c.735G>T (p.Gly245=) c.726G>T (p.Gly242=) c.597G>T (p.Gly199=) n.69+1811C>A | gnomAD v4 |
| 17 | g.8121625C= | CA2246159864 | HES7 | c.639G= (p.Gly213=) c.624G= (p.Gly208=) c.744G= (p.Gly248=) c.735G= (p.Gly245=) c.726G= (p.Gly242=) c.597G= (p.Gly199=) n.69+1811C= | |
| 17 | g.8121625C>G | CA497760817 | HES7 | c.639G>C (p.Gly213=) c.624G>C (p.Gly208=) c.744G>C (p.Gly248=) c.735G>C (p.Gly245=) c.726G>C (p.Gly242=) c.597G>C (p.Gly199=) n.69+1811C>G | |
| 17 | g.8121625C>T | CA287536991 | HES7 | c.639G>A (p.Gly213=) c.624G>A (p.Gly208=) c.744G>A (p.Gly248=) c.735G>A (p.Gly245=) c.726G>A (p.Gly242=) c.597G>A (p.Gly199=) n.69+1811C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121626C>A | CA397987084 | HES7 | c.638G>T (p.Gly213Val) c.623G>T (p.Gly208Val) c.743G>T (p.Gly248Val) c.734G>T (p.Gly245Val) c.725G>T (p.Gly242Val) c.596G>T (p.Gly199Val) n.69+1812C>A | gnomAD v4 |
| 17 | g.8121626C>G | CA397987085 | HES7 | c.638G>C (p.Gly213Ala) c.623G>C (p.Gly208Ala) c.743G>C (p.Gly248Ala) c.734G>C (p.Gly245Ala) c.725G>C (p.Gly242Ala) c.596G>C (p.Gly199Ala) n.69+1812C>G | |
| 17 | g.8121626C>T | CA397987086 | HES7 | c.638G>A (p.Gly213Glu) c.623G>A (p.Gly208Glu) c.743G>A (p.Gly248Glu) c.734G>A (p.Gly245Glu) c.725G>A (p.Gly242Glu) c.596G>A (p.Gly199Glu) n.69+1812C>T | gnomAD v4 |
| 17 | g.8121627C>A | CA397987087 | HES7 | c.637G>T (p.Gly213Trp) c.622G>T (p.Gly208Trp) c.742G>T (p.Gly248Trp) c.733G>T (p.Gly245Trp) c.724G>T (p.Gly242Trp) c.595G>T (p.Gly199Trp) n.69+1813C>A | gnomAD v4 |
| 17 | g.8121627C= | CA2246159870 | HES7 | c.637G= (p.Gly213=) c.622G= (p.Gly208=) c.742G= (p.Gly248=) c.733G= (p.Gly245=) c.724G= (p.Gly242=) c.595G= (p.Gly199=) n.69+1813C= | |
| 17 | g.8121627C>G | CA397987088 | HES7 | c.637G>C (p.Gly213Arg) c.622G>C (p.Gly208Arg) c.742G>C (p.Gly248Arg) c.733G>C (p.Gly245Arg) c.724G>C (p.Gly242Arg) c.595G>C (p.Gly199Arg) n.69+1813C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121627C>T | CA397987090 | HES7 | c.637G>A (p.Gly213Arg) c.622G>A (p.Gly208Arg) c.742G>A (p.Gly248Arg) c.733G>A (p.Gly245Arg) c.724G>A (p.Gly242Arg) c.595G>A (p.Gly199Arg) n.69+1813C>T | dbSNP gnomAD v4 |
| 17 | g.8121627_8121628insT | CA2808397534 | HES7 | c.636_637insA (p.Gly213ArgfsTer?) c.621_622insA (p.Gly208ArgfsTer?) c.741_742insA (p.Gly248ArgfsTer?) c.732_733insA (p.Gly245ArgfsTer?) c.723_724insA (p.Gly242ArgfsTer?) c.594_595insA (p.Gly199ArgfsTer?) n.69+1813_69+1814insT | |
| 17 | g.8121628G>A | CA287536996 | HES7 | c.636C>T (p.Asp212=) c.621C>T (p.Asp207=) c.741C>T (p.Asp247=) c.732C>T (p.Asp244=) c.723C>T (p.Asp241=) c.594C>T (p.Asp198=) n.69+1814G>A | dbSNP gnomAD v4 |
| 17 | g.8121628G>C | CA397987092 | HES7 | c.636C>G (p.Asp212Glu) c.621C>G (p.Asp207Glu) c.741C>G (p.Asp247Glu) c.732C>G (p.Asp244Glu) c.723C>G (p.Asp241Glu) c.594C>G (p.Asp198Glu) n.69+1814G>C | |
| 17 | g.8121628G= | CA2246159876 | HES7 | c.636C= (p.Asp212=) c.621C= (p.Asp207=) c.741C= (p.Asp247=) c.732C= (p.Asp244=) c.723C= (p.Asp241=) c.594C= (p.Asp198=) n.69+1814G= | |
| 17 | g.8121628G>T | CA397987094 | HES7 | c.636C>A (p.Asp212Glu) c.621C>A (p.Asp207Glu) c.741C>A (p.Asp247Glu) c.732C>A (p.Asp244Glu) c.723C>A (p.Asp241Glu) c.594C>A (p.Asp198Glu) n.69+1814G>T | gnomAD v4 |
| 17 | g.8121629T>A | CA397987097 | HES7 | c.635A>T (p.Asp212Val) c.620A>T (p.Asp207Val) c.740A>T (p.Asp247Val) c.731A>T (p.Asp244Val) c.722A>T (p.Asp241Val) c.593A>T (p.Asp198Val) n.69+1815T>A | |
| 17 | g.8121629T>C | CA397987100 | HES7 | c.635A>G (p.Asp212Gly) c.620A>G (p.Asp207Gly) c.740A>G (p.Asp247Gly) c.731A>G (p.Asp244Gly) c.722A>G (p.Asp241Gly) c.593A>G (p.Asp198Gly) n.69+1815T>C | gnomAD v4 |
| 17 | g.8121629T>G | CA397987101 | HES7 | c.635A>C (p.Asp212Ala) c.620A>C (p.Asp207Ala) c.740A>C (p.Asp247Ala) c.731A>C (p.Asp244Ala) c.722A>C (p.Asp241Ala) c.593A>C (p.Asp198Ala) n.69+1815T>G | |
| 17 | g.8121630C>A | CA397987103 | HES7 | c.634G>T (p.Asp212Tyr) c.619G>T (p.Asp207Tyr) c.739G>T (p.Asp247Tyr) c.730G>T (p.Asp244Tyr) c.721G>T (p.Asp241Tyr) c.592G>T (p.Asp198Tyr) n.69+1816C>A | gnomAD v4 |
| 17 | g.8121630C>G | CA397987106 | HES7 | c.634G>C (p.Asp212His) c.619G>C (p.Asp207His) c.739G>C (p.Asp247His) c.730G>C (p.Asp244His) c.721G>C (p.Asp241His) c.592G>C (p.Asp198His) n.69+1816C>G | |
| 17 | g.8121630C>T | CA397987109 | HES7 | c.634G>A (p.Asp212Asn) c.619G>A (p.Asp207Asn) c.739G>A (p.Asp247Asn) c.730G>A (p.Asp244Asn) c.721G>A (p.Asp241Asn) c.592G>A (p.Asp198Asn) n.69+1816C>T | |
| 17 | g.8121631T>A | CA397987113 | HES7 | c.633A>T (p.Gln211His) c.618A>T (p.Gln206His) c.738A>T (p.Gln246His) c.729A>T (p.Gln243His) c.720A>T (p.Gln240His) c.591A>T (p.Gln197His) n.69+1817T>A | |
| 17 | g.8121631T>C | CA497760818 | HES7 | c.633A>G (p.Gln211=) c.618A>G (p.Gln206=) c.738A>G (p.Gln246=) c.729A>G (p.Gln243=) c.720A>G (p.Gln240=) c.591A>G (p.Gln197=) n.69+1817T>C | dbSNP gnomAD v4 |
| 17 | g.8121631T>G | CA397987116 | HES7 | c.633A>C (p.Gln211His) c.618A>C (p.Gln206His) c.738A>C (p.Gln246His) c.729A>C (p.Gln243His) c.720A>C (p.Gln240His) c.591A>C (p.Gln197His) n.69+1817T>G | |
| 17 | g.8121631T= | CA2246159882 | HES7 | c.633A= (p.Gln211=) c.618A= (p.Gln206=) c.738A= (p.Gln246=) c.729A= (p.Gln243=) c.720A= (p.Gln240=) c.591A= (p.Gln197=) n.69+1817T= | |
| 17 | g.8121632T>A | CA397987119 | HES7 | c.632A>T (p.Gln211Leu) c.617A>T (p.Gln206Leu) c.737A>T (p.Gln246Leu) c.728A>T (p.Gln243Leu) c.719A>T (p.Gln240Leu) c.590A>T (p.Gln197Leu) n.69+1818T>A | |
| 17 | g.8121632T>C | CA397987121 | HES7 | c.632A>G (p.Gln211Arg) c.617A>G (p.Gln206Arg) c.737A>G (p.Gln246Arg) c.728A>G (p.Gln243Arg) c.719A>G (p.Gln240Arg) c.590A>G (p.Gln197Arg) n.69+1818T>C | gnomAD v4 |
| 17 | g.8121632T>G | CA397987123 | HES7 | c.632A>C (p.Gln211Pro) c.617A>C (p.Gln206Pro) c.737A>C (p.Gln246Pro) c.728A>C (p.Gln243Pro) c.719A>C (p.Gln240Pro) c.590A>C (p.Gln197Pro) n.69+1818T>G | gnomAD v4 |
| 17 | g.8121633G>A | CA397987126 | HES7 | c.631C>T (p.Gln211Ter) c.616C>T (p.Gln206Ter) c.736C>T (p.Gln246Ter) c.727C>T (p.Gln243Ter) c.718C>T (p.Gln240Ter) c.589C>T (p.Gln197Ter) n.69+1819G>A | gnomAD v4 |
| 17 | g.8121633G>C | CA397987128 | HES7 | c.631C>G (p.Gln211Glu) c.616C>G (p.Gln206Glu) c.736C>G (p.Gln246Glu) c.727C>G (p.Gln243Glu) c.718C>G (p.Gln240Glu) c.589C>G (p.Gln197Glu) n.69+1819G>C | gnomAD v4 |
| 17 | g.8121633G>T | CA397987130 | HES7 | c.631C>A (p.Gln211Lys) c.616C>A (p.Gln206Lys) c.736C>A (p.Gln246Lys) c.727C>A (p.Gln243Lys) c.718C>A (p.Gln240Lys) c.589C>A (p.Gln197Lys) n.69+1819G>T | gnomAD v4 |
| 17 | g.8121633_8121635del | CA2635936850 | HES7 | c.629_631del (p.Arg210_Gln211delinsLys) c.614_616del (p.Arg205_Gln206delinsLys) c.734_736del (p.Arg245_Gln246delinsLys) c.725_727del (p.Arg242_Gln243delinsLys) c.716_718del (p.Arg239_Gln240delinsLys) c.587_589del (p.Arg196_Gln197delinsLys) n.69+1819_69+1821del | gnomAD v4 |
| 17 | g.8121634T>A | CA397987133 | HES7 | c.630A>T (p.Arg210Ser) c.615A>T (p.Arg205Ser) c.735A>T (p.Arg245Ser) c.726A>T (p.Arg242Ser) c.717A>T (p.Arg239Ser) c.588A>T (p.Arg196Ser) n.69+1820T>A | gnomAD v4 |
| 17 | g.8121634T>C | CA497760819 | HES7 | c.630A>G (p.Arg210=) c.615A>G (p.Arg205=) c.735A>G (p.Arg245=) c.726A>G (p.Arg242=) c.717A>G (p.Arg239=) c.588A>G (p.Arg196=) n.69+1820T>C | gnomAD v4 |
| 17 | g.8121634T>G | CA397987135 | HES7 | c.630A>C (p.Arg210Ser) c.615A>C (p.Arg205Ser) c.735A>C (p.Arg245Ser) c.726A>C (p.Arg242Ser) c.717A>C (p.Arg239Ser) c.588A>C (p.Arg196Ser) n.69+1820T>G | |
| 17 | g.8121635C>A | CA397987139 | HES7 | c.629G>T (p.Arg210Ile) c.614G>T (p.Arg205Ile) c.734G>T (p.Arg245Ile) c.725G>T (p.Arg242Ile) c.716G>T (p.Arg239Ile) c.587G>T (p.Arg196Ile) n.69+1821C>A | gnomAD v4 |
| 17 | g.8121635C>G | CA397987140 | HES7 | c.629G>C (p.Arg210Thr) c.614G>C (p.Arg205Thr) c.734G>C (p.Arg245Thr) c.725G>C (p.Arg242Thr) c.716G>C (p.Arg239Thr) c.587G>C (p.Arg196Thr) n.69+1821C>G | gnomAD v4 |
| 17 | g.8121635C>T | CA397987142 | HES7 | c.629G>A (p.Arg210Lys) c.614G>A (p.Arg205Lys) c.734G>A (p.Arg245Lys) c.725G>A (p.Arg242Lys) c.716G>A (p.Arg239Lys) c.587G>A (p.Arg196Lys) n.69+1821C>T | gnomAD v4 |
| 17 | g.8121636T>A | CA397987145 | HES7 | c.628A>T (p.Arg210Ter) c.613A>T (p.Arg205Ter) c.733A>T (p.Arg245Ter) c.724A>T (p.Arg242Ter) c.715A>T (p.Arg239Ter) c.586A>T (p.Arg196Ter) n.69+1822T>A | |
| 17 | g.8121636T>C | CA397987148 | HES7 | c.628A>G (p.Arg210Gly) c.613A>G (p.Arg205Gly) c.733A>G (p.Arg245Gly) c.724A>G (p.Arg242Gly) c.715A>G (p.Arg239Gly) c.586A>G (p.Arg196Gly) n.69+1822T>C | gnomAD v4 |
| 17 | g.8121636T>G | CA497760820 | HES7 | c.628A>C (p.Arg210=) c.613A>C (p.Arg205=) c.733A>C (p.Arg245=) c.724A>C (p.Arg242=) c.715A>C (p.Arg239=) c.586A>C (p.Arg196=) n.69+1822T>G | |
| 17 | g.8121637G>A | CA497760821 | HES7 | c.627C>T (p.His209=) c.612C>T (p.His204=) c.732C>T (p.His244=) c.723C>T (p.His241=) c.714C>T (p.His238=) c.585C>T (p.His195=) n.69+1823G>A | dbSNP gnomAD v4 |
| 17 | g.8121637G>C | CA397987153 | HES7 | c.627C>G (p.His209Gln) c.612C>G (p.His204Gln) c.732C>G (p.His244Gln) c.723C>G (p.His241Gln) c.714C>G (p.His238Gln) c.585C>G (p.His195Gln) n.69+1823G>C | |
| 17 | g.8121637G= | CA2246159886 | HES7 | c.627C= (p.His209=) c.612C= (p.His204=) c.732C= (p.His244=) c.723C= (p.His241=) c.714C= (p.His238=) c.585C= (p.His195=) n.69+1823G= | |
| 17 | g.8121637G>T | CA397987155 | HES7 | c.627C>A (p.His209Gln) c.612C>A (p.His204Gln) c.732C>A (p.His244Gln) c.723C>A (p.His241Gln) c.714C>A (p.His238Gln) c.585C>A (p.His195Gln) n.69+1823G>T | gnomAD v4 |
| 17 | g.8121638T>A | CA397987157 | HES7 | c.626A>T (p.His209Leu) c.611A>T (p.His204Leu) c.731A>T (p.His244Leu) c.722A>T (p.His241Leu) c.713A>T (p.His238Leu) c.584A>T (p.His195Leu) n.69+1824T>A | gnomAD v4 |
| 17 | g.8121638T>C | CA397987159 | HES7 | c.626A>G (p.His209Arg) c.611A>G (p.His204Arg) c.731A>G (p.His244Arg) c.722A>G (p.His241Arg) c.713A>G (p.His238Arg) c.584A>G (p.His195Arg) n.69+1824T>C | gnomAD v4 |
| 17 | g.8121638T>G | CA397987160 | HES7 | c.626A>C (p.His209Pro) c.611A>C (p.His204Pro) c.731A>C (p.His244Pro) c.722A>C (p.His241Pro) c.713A>C (p.His238Pro) c.584A>C (p.His195Pro) n.69+1824T>G | gnomAD v4 |
| 17 | g.8121639G>A | CA287537003 | HES7 | c.625C>T (p.His209Tyr) c.610C>T (p.His204Tyr) c.730C>T (p.His244Tyr) c.721C>T (p.His241Tyr) c.712C>T (p.His238Tyr) c.583C>T (p.His195Tyr) n.69+1825G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121639G>C | CA397987166 | HES7 | c.625C>G (p.His209Asp) c.610C>G (p.His204Asp) c.730C>G (p.His244Asp) c.721C>G (p.His241Asp) c.712C>G (p.His238Asp) c.583C>G (p.His195Asp) n.69+1825G>C | |
| 17 | g.8121639G= | CA2246159899 | HES7 | c.625C= (p.His209=) c.610C= (p.His204=) c.730C= (p.His244=) c.721C= (p.His241=) c.712C= (p.His238=) c.583C= (p.His195=) n.69+1825G= | |
| 17 | g.8121639G>T | CA397987169 | HES7 | c.625C>A (p.His209Asn) c.610C>A (p.His204Asn) c.730C>A (p.His244Asn) c.721C>A (p.His241Asn) c.712C>A (p.His238Asn) c.583C>A (p.His195Asn) n.69+1825G>T | gnomAD v4 |
| 17 | g.8121640A>C | CA497760822 | HES7 | c.624T>G (p.Pro208=) c.609T>G (p.Pro203=) c.729T>G (p.Pro243=) c.720T>G (p.Pro240=) c.711T>G (p.Pro237=) c.582T>G (p.Pro194=) n.69+1826A>C | |
| 17 | g.8121640A>G | CA497760823 | HES7 | c.624T>C (p.Pro208=) c.609T>C (p.Pro203=) c.729T>C (p.Pro243=) c.720T>C (p.Pro240=) c.711T>C (p.Pro237=) c.582T>C (p.Pro194=) n.69+1826A>G | gnomAD v4 |
| 17 | g.8121640A>T | CA497760824 | HES7 | c.624T>A (p.Pro208=) c.609T>A (p.Pro203=) c.729T>A (p.Pro243=) c.720T>A (p.Pro240=) c.711T>A (p.Pro237=) c.582T>A (p.Pro194=) n.69+1826A>T | gnomAD v4 |
| 17 | g.8121641G>A | CA397987174 | HES7 | c.623C>T (p.Pro208Leu) c.608C>T (p.Pro203Leu) c.728C>T (p.Pro243Leu) c.719C>T (p.Pro240Leu) c.710C>T (p.Pro237Leu) c.581C>T (p.Pro194Leu) n.69+1827G>A | gnomAD v4 |
| 17 | g.8121641G>C | CA397987175 | HES7 | c.623C>G (p.Pro208Arg) c.608C>G (p.Pro203Arg) c.728C>G (p.Pro243Arg) c.719C>G (p.Pro240Arg) c.710C>G (p.Pro237Arg) c.581C>G (p.Pro194Arg) n.69+1827G>C | dbSNP gnomAD v4 |
| 17 | g.8121641G= | CA2246159904 | HES7 | c.623C= (p.Pro208=) c.608C= (p.Pro203=) c.728C= (p.Pro243=) c.719C= (p.Pro240=) c.710C= (p.Pro237=) c.581C= (p.Pro194=) n.69+1827G= | |
| 17 | g.8121641G>T | CA397987172 | HES7 | c.623C>A (p.Pro208His) c.608C>A (p.Pro203His) c.728C>A (p.Pro243His) c.719C>A (p.Pro240His) c.710C>A (p.Pro237His) c.581C>A (p.Pro194His) n.69+1827G>T | gnomAD v4 |
| 17 | g.8121646_8121648del | CA2635936876 | HES7 | c.621_623del (p.Pro208del) c.606_608del (p.Pro203del) c.726_728del (p.Pro243del) c.717_719del (p.Pro240del) c.708_710del (p.Pro237del) c.579_581del (p.Pro194del) n.69+1832_69+1834del | gnomAD v4 |
| 17 | g.8121649_8121657dup | CA2576161669 | HES7 | c.615_623dup (p.Pro208_His209insProProPro) c.600_608dup (p.Pro203_His204insProProPro) c.720_728dup (p.Pro243_His244insProProPro) c.711_719dup (p.Pro240_His241insProProPro) c.702_710dup (p.Pro237_His238insProProPro) c.573_581dup (p.Pro194_His195insProProPro) n.69+1835_69+1843dup | |
| 17 | g.8121642G>A | CA397987178 | HES7 | c.622C>T (p.Pro208Ser) c.607C>T (p.Pro203Ser) c.727C>T (p.Pro243Ser) c.718C>T (p.Pro240Ser) c.709C>T (p.Pro237Ser) c.580C>T (p.Pro194Ser) n.69+1828G>A | gnomAD v4 |
| 17 | g.8121642G>C | CA397987181 | HES7 | c.622C>G (p.Pro208Ala) c.607C>G (p.Pro203Ala) c.727C>G (p.Pro243Ala) c.718C>G (p.Pro240Ala) c.709C>G (p.Pro237Ala) c.580C>G (p.Pro194Ala) n.69+1828G>C | |
| 17 | g.8121642G>T | CA397987183 | HES7 | c.622C>A (p.Pro208Thr) c.607C>A (p.Pro203Thr) c.727C>A (p.Pro243Thr) c.718C>A (p.Pro240Thr) c.709C>A (p.Pro237Thr) c.580C>A (p.Pro194Thr) n.69+1828G>T | gnomAD v4 |
| 17 | g.8121643C>A | CA497760825 | HES7 | c.621G>T (p.Pro207=) c.606G>T (p.Pro202=) c.726G>T (p.Pro242=) c.717G>T (p.Pro239=) c.708G>T (p.Pro236=) c.579G>T (p.Pro193=) n.69+1829C>A | gnomAD v4 |
| 17 | g.8121643C= | CA2246159913 | HES7 | c.621G= (p.Pro207=) c.606G= (p.Pro202=) c.726G= (p.Pro242=) c.717G= (p.Pro239=) c.708G= (p.Pro236=) c.579G= (p.Pro193=) n.69+1829C= | |
| 17 | g.8121643C>G | CA497760826 | HES7 | c.621G>C (p.Pro207=) c.606G>C (p.Pro202=) c.726G>C (p.Pro242=) c.717G>C (p.Pro239=) c.708G>C (p.Pro236=) c.579G>C (p.Pro193=) n.69+1829C>G | |
| 17 | g.8121643C>T | CA497760827 | HES7 | c.621G>A (p.Pro207=) c.606G>A (p.Pro202=) c.726G>A (p.Pro242=) c.717G>A (p.Pro239=) c.708G>A (p.Pro236=) c.579G>A (p.Pro193=) n.69+1829C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121644G>A | CA397987185 | HES7 | c.620C>T (p.Pro207Leu) c.605C>T (p.Pro202Leu) c.725C>T (p.Pro242Leu) c.716C>T (p.Pro239Leu) c.707C>T (p.Pro236Leu) c.578C>T (p.Pro193Leu) n.69+1830G>A | gnomAD v4 |
| 17 | g.8121644G>C | CA397987188 | HES7 | c.620C>G (p.Pro207Arg) c.605C>G (p.Pro202Arg) c.725C>G (p.Pro242Arg) c.716C>G (p.Pro239Arg) c.707C>G (p.Pro236Arg) c.578C>G (p.Pro193Arg) n.69+1830G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121644G= | CA2246159918 | HES7 | c.620C= (p.Pro207=) c.605C= (p.Pro202=) c.725C= (p.Pro242=) c.716C= (p.Pro239=) c.707C= (p.Pro236=) c.578C= (p.Pro193=) n.69+1830G= | |
| 17 | g.8121644G>T | CA397987191 | HES7 | c.620C>A (p.Pro207Gln) c.605C>A (p.Pro202Gln) c.725C>A (p.Pro242Gln) c.716C>A (p.Pro239Gln) c.707C>A (p.Pro236Gln) c.578C>A (p.Pro193Gln) n.69+1830G>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121649_8121654dup | CA2635936878 | HES7 | c.615_620dup (p.Pro207_Pro208insProPro) c.600_605dup (p.Pro202_Pro203insProPro) c.720_725dup (p.Pro242_Pro243insProPro) c.711_716dup (p.Pro239_Pro240insProPro) c.702_707dup (p.Pro236_Pro237insProPro) c.573_578dup (p.Pro193_Pro194insProPro) n.69+1835_69+1840dup | gnomAD v4 |
| 17 | g.8121645G>A | CA397987197 | HES7 | c.619C>T (p.Pro207Ser) c.604C>T (p.Pro202Ser) c.724C>T (p.Pro242Ser) c.715C>T (p.Pro239Ser) c.706C>T (p.Pro236Ser) c.577C>T (p.Pro193Ser) n.69+1831G>A | gnomAD v4 |
| 17 | g.8121645G>C | CA397987193 | HES7 | c.619C>G (p.Pro207Ala) c.604C>G (p.Pro202Ala) c.724C>G (p.Pro242Ala) c.715C>G (p.Pro239Ala) c.706C>G (p.Pro236Ala) c.577C>G (p.Pro193Ala) n.69+1831G>C | |
| 17 | g.8121645G>T | CA397987195 | HES7 | c.619C>A (p.Pro207Thr) c.604C>A (p.Pro202Thr) c.724C>A (p.Pro242Thr) c.715C>A (p.Pro239Thr) c.706C>A (p.Pro236Thr) c.577C>A (p.Pro193Thr) n.69+1831G>T | gnomAD v4 |
| 17 | g.8121646C>A | CA497760828 | HES7 | c.618G>T (p.Pro206=) c.603G>T (p.Pro201=) c.723G>T (p.Pro241=) c.714G>T (p.Pro238=) c.705G>T (p.Pro235=) c.576G>T (p.Pro192=) n.69+1832C>A | gnomAD v4 |
| 17 | g.8121646C= | CA2246159925 | HES7 | c.618G= (p.Pro206=) c.603G= (p.Pro201=) c.723G= (p.Pro241=) c.714G= (p.Pro238=) c.705G= (p.Pro235=) c.576G= (p.Pro192=) n.69+1832C= | |
| 17 | g.8121646C>G | CA497760829 | HES7 | c.618G>C (p.Pro206=) c.603G>C (p.Pro201=) c.723G>C (p.Pro241=) c.714G>C (p.Pro238=) c.705G>C (p.Pro235=) c.576G>C (p.Pro192=) n.69+1832C>G | |
| 17 | g.8121646C>T | CA497760830 | HES7 | c.618G>A (p.Pro206=) c.603G>A (p.Pro201=) c.723G>A (p.Pro241=) c.714G>A (p.Pro238=) c.705G>A (p.Pro235=) c.576G>A (p.Pro192=) n.69+1832C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121647G>A | CA397987200 | HES7 | c.617C>T (p.Pro206Leu) c.602C>T (p.Pro201Leu) c.722C>T (p.Pro241Leu) c.713C>T (p.Pro238Leu) c.704C>T (p.Pro235Leu) c.575C>T (p.Pro192Leu) n.69+1833G>A | dbSNP gnomAD v4 |
| 17 | g.8121647G>C | CA397987202 | HES7 | c.617C>G (p.Pro206Arg) c.602C>G (p.Pro201Arg) c.722C>G (p.Pro241Arg) c.713C>G (p.Pro238Arg) c.704C>G (p.Pro235Arg) c.575C>G (p.Pro192Arg) n.69+1833G>C | |
| 17 | g.8121647G= | CA2246159928 | HES7 | c.617C= (p.Pro206=) c.602C= (p.Pro201=) c.722C= (p.Pro241=) c.713C= (p.Pro238=) c.704C= (p.Pro235=) c.575C= (p.Pro192=) n.69+1833G= | |
| 17 | g.8121647G>T | CA397987204 | HES7 | c.617C>A (p.Pro206Gln) c.602C>A (p.Pro201Gln) c.722C>A (p.Pro241Gln) c.713C>A (p.Pro238Gln) c.704C>A (p.Pro235Gln) c.575C>A (p.Pro192Gln) n.69+1833G>T | gnomAD v4 |
| 17 | g.8121648G>A | CA397987206 | HES7 | c.616C>T (p.Pro206Ser) c.601C>T (p.Pro201Ser) c.721C>T (p.Pro241Ser) c.712C>T (p.Pro238Ser) c.703C>T (p.Pro235Ser) c.574C>T (p.Pro192Ser) n.69+1834G>A | gnomAD v4 |
| 17 | g.8121648G>C | CA397987208 | HES7 | c.616C>G (p.Pro206Ala) c.601C>G (p.Pro201Ala) c.721C>G (p.Pro241Ala) c.712C>G (p.Pro238Ala) c.703C>G (p.Pro235Ala) c.574C>G (p.Pro192Ala) n.69+1834G>C | |
| 17 | g.8121648G>T | CA397987211 | HES7 | c.616C>A (p.Pro206Thr) c.601C>A (p.Pro201Thr) c.721C>A (p.Pro241Thr) c.712C>A (p.Pro238Thr) c.703C>A (p.Pro235Thr) c.574C>A (p.Pro192Thr) n.69+1834G>T | gnomAD v4 |
| 17 | g.8121649T>A | CA497760831 | HES7 | c.615A>T (p.Pro205=) c.600A>T (p.Pro200=) c.720A>T (p.Pro240=) c.711A>T (p.Pro237=) c.702A>T (p.Pro234=) c.573A>T (p.Pro191=) n.69+1835T>A | |
| 17 | g.8121649T>C | CA287537011 | HES7 | c.615A>G (p.Pro205=) c.600A>G (p.Pro200=) c.720A>G (p.Pro240=) c.711A>G (p.Pro237=) c.702A>G (p.Pro234=) c.573A>G (p.Pro191=) n.69+1835T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121649T>G | CA497760832 | HES7 | c.615A>C (p.Pro205=) c.600A>C (p.Pro200=) c.720A>C (p.Pro240=) c.711A>C (p.Pro237=) c.702A>C (p.Pro234=) c.573A>C (p.Pro191=) n.69+1835T>G | gnomAD v4 |
| 17 | g.8121649T= | CA2246159932 | HES7 | c.615A= (p.Pro205=) c.600A= (p.Pro200=) c.720A= (p.Pro240=) c.711A= (p.Pro237=) c.702A= (p.Pro234=) c.573A= (p.Pro191=) n.69+1835T= | |
| 17 | g.8121650G>A | CA397987215 | HES7 | c.614C>T (p.Pro205Leu) c.599C>T (p.Pro200Leu) c.719C>T (p.Pro240Leu) c.710C>T (p.Pro237Leu) c.701C>T (p.Pro234Leu) c.572C>T (p.Pro191Leu) n.69+1836G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121650G>C | CA397987219 | HES7 | c.614C>G (p.Pro205Arg) c.599C>G (p.Pro200Arg) c.719C>G (p.Pro240Arg) c.710C>G (p.Pro237Arg) c.701C>G (p.Pro234Arg) c.572C>G (p.Pro191Arg) n.69+1836G>C | |
| 17 | g.8121650G= | CA2246159936 | HES7 | c.614C= (p.Pro205=) c.599C= (p.Pro200=) c.719C= (p.Pro240=) c.710C= (p.Pro237=) c.701C= (p.Pro234=) c.572C= (p.Pro191=) n.69+1836G= | |
| 17 | g.8121650G>T | CA397987217 | HES7 | c.614C>A (p.Pro205Gln) c.599C>A (p.Pro200Gln) c.719C>A (p.Pro240Gln) c.710C>A (p.Pro237Gln) c.701C>A (p.Pro234Gln) c.572C>A (p.Pro191Gln) n.69+1836G>T | gnomAD v4 |
| 17 | g.8121656_8121658dup | CA775623170 | HES7 | c.612_614dup (p.Pro205_Pro206insPro) c.597_599dup (p.Pro200_Pro201insPro) c.717_719dup (p.Pro240_Pro241insPro) c.708_710dup (p.Pro237_Pro238insPro) c.699_701dup (p.Pro234_Pro235insPro) c.570_572dup (p.Pro191_Pro192insPro) n.69+1842_69+1844dup | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121653_8121658dup | CA775623174 | HES7 | c.609_614dup (p.Pro205_Pro206insProPro) c.594_599dup (p.Pro200_Pro201insProPro) c.714_719dup (p.Pro240_Pro241insProPro) c.705_710dup (p.Pro237_Pro238insProPro) c.696_701dup (p.Pro234_Pro235insProPro) c.567_572dup (p.Pro191_Pro192insProPro) n.69+1839_69+1844dup | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121656_8121658del | CA2635936919 | HES7 | c.612_614del (p.Pro205del) c.597_599del (p.Pro200del) c.717_719del (p.Pro240del) c.708_710del (p.Pro237del) c.699_701del (p.Pro234del) c.570_572del (p.Pro191del) n.69+1842_69+1844del | gnomAD v4 |
| 17 | g.8121654_8121677dup | CA2635936918 | HES7 | c.591_614dup (p.Pro205_Pro206insLeuThrGlyLeuLeuProProPro) c.576_599dup (p.Pro200_Pro201insLeuThrGlyLeuLeuProProPro) c.696_719dup (p.Pro240_Pro241insLeuThrGlyLeuLeuProProPro) c.687_710dup (p.Pro237_Pro238insLeuThrGlyLeuLeuProProPro) c.678_701dup (p.Pro234_Pro235insLeuThrGlyLeuLeuProProPro) c.549_572dup (p.Pro191_Pro192insLeuThrGlyLeuLeuProProPro) n.69+1840_69+1863dup | gnomAD v4 |
| 17 | g.8121651G>A | CA397987223 | HES7 | c.613C>T (p.Pro205Ser) c.598C>T (p.Pro200Ser) c.718C>T (p.Pro240Ser) c.709C>T (p.Pro237Ser) c.700C>T (p.Pro234Ser) c.571C>T (p.Pro191Ser) n.69+1837G>A | dbSNP gnomAD v4 |
| 17 | g.8121651G>C | CA397987226 | HES7 | c.613C>G (p.Pro205Ala) c.598C>G (p.Pro200Ala) c.718C>G (p.Pro240Ala) c.709C>G (p.Pro237Ala) c.700C>G (p.Pro234Ala) c.571C>G (p.Pro191Ala) n.69+1837G>C | |
| 17 | g.8121651G= | CA2246159950 | HES7 | c.613C= (p.Pro205=) c.598C= (p.Pro200=) c.718C= (p.Pro240=) c.709C= (p.Pro237=) c.700C= (p.Pro234=) c.571C= (p.Pro191=) n.69+1837G= | |
| 17 | g.8121651G>T | CA397987227 | HES7 | c.613C>A (p.Pro205Thr) c.598C>A (p.Pro200Thr) c.718C>A (p.Pro240Thr) c.709C>A (p.Pro237Thr) c.700C>A (p.Pro234Thr) c.571C>A (p.Pro191Thr) n.69+1837G>T | gnomAD v4 |
| 17 | g.8121652_8121653del | CA2635936928 | HES7 | c.612_613del (p.Pro205ThrfsTer?) c.597_598del (p.Pro200ThrfsTer?) c.717_718del (p.Pro240ThrfsTer?) c.708_709del (p.Pro237ThrfsTer?) c.699_700del (p.Pro234ThrfsTer?) c.570_571del (p.Pro191ThrfsTer?) n.69+1838_69+1839del | gnomAD v4 |
| 17 | g.8121651_8121678delinsGCGGCGGCAGCAGTCCGGTGAGGGGCGC | CA2246159948 | HES7 | c.586_613delinsGCGCCCCTCACCGGACTGCTGCCGCCGC (p.Ala196=) c.571_598delinsGCGCCCCTCACCGGACTGCTGCCGCCGC (p.Ala191=) c.691_718delinsGCGCCCCTCACCGGACTGCTGCCGCCGC (p.Ala231=) c.682_709delinsGCGCCCCTCACCGGACTGCTGCCGCCGC (p.Ala228=) c.673_700delinsGCGCCCCTCACCGGACTGCTGCCGCCGC (p.Ala225=) c.544_571delinsGCGCCCCTCACCGGACTGCTGCCGCCGC (p.Ala182=) n.69+1837_69+1864delinsGCGGCGGCAGCAGTCCGGTGAGGGGCGC | |
| 17 | g.8121652C>A | CA497760833 | HES7 | c.612G>T (p.Pro204=) c.597G>T (p.Pro199=) c.717G>T (p.Pro239=) c.708G>T (p.Pro236=) c.699G>T (p.Pro233=) c.570G>T (p.Pro190=) n.69+1838C>A | gnomAD v4 |
| 17 | g.8121652C>G | CA497760834 | HES7 | c.612G>C (p.Pro204=) c.597G>C (p.Pro199=) c.717G>C (p.Pro239=) c.708G>C (p.Pro236=) c.699G>C (p.Pro233=) c.570G>C (p.Pro190=) n.69+1838C>G | gnomAD v4 |
| 17 | g.8121652C>T | CA497760835 | HES7 | c.612G>A (p.Pro204=) c.597G>A (p.Pro199=) c.717G>A (p.Pro239=) c.708G>A (p.Pro236=) c.699G>A (p.Pro233=) c.570G>A (p.Pro190=) n.69+1838C>T | gnomAD v4 |
| 17 | g.8121657_8121683del | CA775623182 | HES7 | c.586_612del (p.Ala196_Pro204del) c.571_597del (p.Ala191_Pro199del) c.691_717del (p.Ala231_Pro239del) c.682_708del (p.Ala228_Pro236del) c.673_699del (p.Ala225_Pro233del) c.544_570del (p.Ala182_Pro190del) n.69+1843_69+1869del | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121653G>A | CA397987231 | HES7 | c.611C>T (p.Pro204Leu) c.596C>T (p.Pro199Leu) c.716C>T (p.Pro239Leu) c.707C>T (p.Pro236Leu) c.698C>T (p.Pro233Leu) c.569C>T (p.Pro190Leu) n.69+1839G>A | gnomAD v4 |
| 17 | g.8121653G>C | CA397987234 | HES7 | c.611C>G (p.Pro204Arg) c.596C>G (p.Pro199Arg) c.716C>G (p.Pro239Arg) c.707C>G (p.Pro236Arg) c.698C>G (p.Pro233Arg) c.569C>G (p.Pro190Arg) n.69+1839G>C | |
| 17 | g.8121653G= | CA2246159959 | HES7 | c.611C= (p.Pro204=) c.596C= (p.Pro199=) c.716C= (p.Pro239=) c.707C= (p.Pro236=) c.698C= (p.Pro233=) c.569C= (p.Pro190=) n.69+1839G= | |
| 17 | g.8121653G>T | CA397987236 | HES7 | c.611C>A (p.Pro204Gln) c.596C>A (p.Pro199Gln) c.716C>A (p.Pro239Gln) c.707C>A (p.Pro236Gln) c.698C>A (p.Pro233Gln) c.569C>A (p.Pro190Gln) n.69+1839G>T | gnomAD v4 |
| 17 | g.8121654G>A | CA397987239 | HES7 | c.610C>T (p.Pro204Ser) c.595C>T (p.Pro199Ser) c.715C>T (p.Pro239Ser) c.706C>T (p.Pro236Ser) c.697C>T (p.Pro233Ser) c.568C>T (p.Pro190Ser) n.69+1840G>A | gnomAD v4 |
| 17 | g.8121654G>C | CA397987241 | HES7 | c.610C>G (p.Pro204Ala) c.595C>G (p.Pro199Ala) c.715C>G (p.Pro239Ala) c.706C>G (p.Pro236Ala) c.697C>G (p.Pro233Ala) c.568C>G (p.Pro190Ala) n.69+1840G>C | |
| 17 | g.8121654G>T | CA397987243 | HES7 | c.610C>A (p.Pro204Thr) c.595C>A (p.Pro199Thr) c.715C>A (p.Pro239Thr) c.706C>A (p.Pro236Thr) c.697C>A (p.Pro233Thr) c.568C>A (p.Pro190Thr) n.69+1840G>T | gnomAD v4 |
| 17 | g.8121656_8121661dup | CA2246159962 | HES7 | c.605_610dup (p.Pro203_Pro204insLeuPro) c.590_595dup (p.Pro198_Pro199insLeuPro) c.710_715dup (p.Pro238_Pro239insLeuPro) c.701_706dup (p.Pro235_Pro236insLeuPro) c.692_697dup (p.Pro232_Pro233insLeuPro) c.563_568dup (p.Pro189_Pro190insLeuPro) n.69+1842_69+1847dup | dbSNP |
| 17 | g.8121655C>A | CA497760836 | HES7 | c.609G>T (p.Pro203=) c.594G>T (p.Pro198=) c.714G>T (p.Pro238=) c.705G>T (p.Pro235=) c.696G>T (p.Pro232=) c.567G>T (p.Pro189=) n.69+1841C>A | gnomAD v4 |
| 17 | g.8121655C= | CA2246159966 | HES7 | c.609G= (p.Pro203=) c.594G= (p.Pro198=) c.714G= (p.Pro238=) c.705G= (p.Pro235=) c.696G= (p.Pro232=) c.567G= (p.Pro189=) n.69+1841C= | |
| 17 | g.8121655C>G | CA497760837 | HES7 | c.609G>C (p.Pro203=) c.594G>C (p.Pro198=) c.714G>C (p.Pro238=) c.705G>C (p.Pro235=) c.696G>C (p.Pro232=) c.567G>C (p.Pro189=) n.69+1841C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121655C>T | CA497760838 | HES7 | c.609G>A (p.Pro203=) c.594G>A (p.Pro198=) c.714G>A (p.Pro238=) c.705G>A (p.Pro235=) c.696G>A (p.Pro232=) c.567G>A (p.Pro189=) n.69+1841C>T | dbSNP gnomAD v4 |
| 17 | g.8121656G>A | CA397987246 | HES7 | c.608C>T (p.Pro203Leu) c.593C>T (p.Pro198Leu) c.713C>T (p.Pro238Leu) c.704C>T (p.Pro235Leu) c.695C>T (p.Pro232Leu) c.566C>T (p.Pro189Leu) n.69+1842G>A | dbSNP gnomAD v4 |
| 17 | g.8121656G>C | CA397987248 | HES7 | c.608C>G (p.Pro203Arg) c.593C>G (p.Pro198Arg) c.713C>G (p.Pro238Arg) c.704C>G (p.Pro235Arg) c.695C>G (p.Pro232Arg) c.566C>G (p.Pro189Arg) n.69+1842G>C | |
| 17 | g.8121656G= | CA2246159970 | HES7 | c.608C= (p.Pro203=) c.593C= (p.Pro198=) c.713C= (p.Pro238=) c.704C= (p.Pro235=) c.695C= (p.Pro232=) c.566C= (p.Pro189=) n.69+1842G= | |
| 17 | g.8121656G>T | CA397987249 | HES7 | c.608C>A (p.Pro203Gln) c.593C>A (p.Pro198Gln) c.713C>A (p.Pro238Gln) c.704C>A (p.Pro235Gln) c.695C>A (p.Pro232Gln) c.566C>A (p.Pro189Gln) n.69+1842G>T | dbSNP gnomAD v4 |
| 17 | g.8121656_8121659delinsGGCA | CA2246159968 | HES7 | c.605_608delinsTGCC (p.Leu202=) c.590_593delinsTGCC (p.Leu197=) c.710_713delinsTGCC (p.Leu237=) c.701_704delinsTGCC (p.Leu234=) c.692_695delinsTGCC (p.Leu231=) c.563_566delinsTGCC (p.Leu188=) n.69+1842_69+1845delinsGGCA | |
| 17 | g.8121657G>A | CA397987258 | HES7 | c.607C>T (p.Pro203Ser) c.592C>T (p.Pro198Ser) c.712C>T (p.Pro238Ser) c.703C>T (p.Pro235Ser) c.694C>T (p.Pro232Ser) c.565C>T (p.Pro189Ser) n.69+1843G>A | gnomAD v4 |
| 17 | g.8121657G>C | CA397987253 | HES7 | c.607C>G (p.Pro203Ala) c.592C>G (p.Pro198Ala) c.712C>G (p.Pro238Ala) c.703C>G (p.Pro235Ala) c.694C>G (p.Pro232Ala) c.565C>G (p.Pro189Ala) n.69+1843G>C | |
| 17 | g.8121657G>T | CA397987255 | HES7 | c.607C>A (p.Pro203Thr) c.592C>A (p.Pro198Thr) c.712C>A (p.Pro238Thr) c.703C>A (p.Pro235Thr) c.694C>A (p.Pro232Thr) c.565C>A (p.Pro189Thr) n.69+1843G>T | gnomAD v4 |
| 17 | g.8121661_8121663dup | CA775623195 | HES7 | c.605_607dup (p.Leu202_Pro203insLeu) c.590_592dup (p.Leu197_Pro198insLeu) c.710_712dup (p.Leu237_Pro238insLeu) c.701_703dup (p.Leu234_Pro235insLeu) c.692_694dup (p.Leu231_Pro232insLeu) c.563_565dup (p.Leu188_Pro189insLeu) n.69+1847_69+1849dup | ClinVar dbSNP |
| 17 | g.8121661_8121663del | CA913014253 | HES7 | c.605_607del (p.Leu202del) c.590_592del (p.Leu197del) c.710_712del (p.Leu237del) c.701_703del (p.Leu234del) c.692_694del (p.Leu231del) c.563_565del (p.Leu188del) n.69+1847_69+1849del | dbSNP |
| 17 | g.8121658C>A | CA497760841 | HES7 | c.606G>T (p.Leu202=) c.591G>T (p.Leu197=) c.711G>T (p.Leu237=) c.702G>T (p.Leu234=) c.693G>T (p.Leu231=) c.564G>T (p.Leu188=) n.69+1844C>A | dbSNP gnomAD v4 |
| 17 | g.8121658C= | CA2246159979 | HES7 | c.606G= (p.Leu202=) c.591G= (p.Leu197=) c.711G= (p.Leu237=) c.702G= (p.Leu234=) c.693G= (p.Leu231=) c.564G= (p.Leu188=) n.69+1844C= | |
| 17 | g.8121658C>G | CA497760839 | HES7 | c.606G>C (p.Leu202=) c.591G>C (p.Leu197=) c.711G>C (p.Leu237=) c.702G>C (p.Leu234=) c.693G>C (p.Leu231=) c.564G>C (p.Leu188=) n.69+1844C>G | dbSNP gnomAD v4 |
| 17 | g.8121658C>T | CA497760840 | HES7 | c.606G>A (p.Leu202=) c.591G>A (p.Leu197=) c.711G>A (p.Leu237=) c.702G>A (p.Leu234=) c.693G>A (p.Leu231=) c.564G>A (p.Leu188=) n.69+1844C>T | gnomAD v4 |
| 17 | g.8121659A>C | CA397987260 | HES7 | c.605T>G (p.Leu202Arg) c.590T>G (p.Leu197Arg) c.710T>G (p.Leu237Arg) c.701T>G (p.Leu234Arg) c.692T>G (p.Leu231Arg) c.563T>G (p.Leu188Arg) n.69+1845A>C | |
| 17 | g.8121659A>G | CA397987262 | HES7 | c.605T>C (p.Leu202Pro) c.590T>C (p.Leu197Pro) c.710T>C (p.Leu237Pro) c.701T>C (p.Leu234Pro) c.692T>C (p.Leu231Pro) c.563T>C (p.Leu188Pro) n.69+1845A>G | ClinVar gnomAD v4 |
| 17 | g.8121659A>T | CA397987264 | HES7 | c.605T>A (p.Leu202Gln) c.590T>A (p.Leu197Gln) c.710T>A (p.Leu237Gln) c.701T>A (p.Leu234Gln) c.692T>A (p.Leu231Gln) c.563T>A (p.Leu188Gln) n.69+1845A>T | |
| 17 | g.8121660G>A | CA497760842 | HES7 | c.604C>T (p.Leu202=) c.589C>T (p.Leu197=) c.709C>T (p.Leu237=) c.700C>T (p.Leu234=) c.691C>T (p.Leu231=) c.562C>T (p.Leu188=) n.69+1846G>A | gnomAD v4 |
| 17 | g.8121660G>C | CA397987267 | HES7 | c.604C>G (p.Leu202Val) c.589C>G (p.Leu197Val) c.709C>G (p.Leu237Val) c.700C>G (p.Leu234Val) c.691C>G (p.Leu231Val) c.562C>G (p.Leu188Val) n.69+1846G>C | |
| 17 | g.8121660G>T | CA397987270 | HES7 | c.604C>A (p.Leu202Met) c.589C>A (p.Leu197Met) c.709C>A (p.Leu237Met) c.700C>A (p.Leu234Met) c.691C>A (p.Leu231Met) c.562C>A (p.Leu188Met) n.69+1846G>T | gnomAD v4 |
| 17 | g.8121661C>A | CA497760843 | HES7 | c.603G>T (p.Leu201=) c.588G>T (p.Leu196=) c.708G>T (p.Leu236=) c.699G>T (p.Leu233=) c.690G>T (p.Leu230=) c.561G>T (p.Leu187=) n.69+1847C>A | gnomAD v4 |
| 17 | g.8121661C>G | CA497760844 | HES7 | c.603G>C (p.Leu201=) c.588G>C (p.Leu196=) c.708G>C (p.Leu236=) c.699G>C (p.Leu233=) c.690G>C (p.Leu230=) c.561G>C (p.Leu187=) n.69+1847C>G | |
| 17 | g.8121661C>T | CA497760845 | HES7 | c.603G>A (p.Leu201=) c.588G>A (p.Leu196=) c.708G>A (p.Leu236=) c.699G>A (p.Leu233=) c.690G>A (p.Leu230=) c.561G>A (p.Leu187=) n.69+1847C>T | gnomAD v4 |
| 17 | g.8121662A>C | CA397987273 | HES7 | c.602T>G (p.Leu201Arg) c.587T>G (p.Leu196Arg) c.707T>G (p.Leu236Arg) c.698T>G (p.Leu233Arg) c.689T>G (p.Leu230Arg) c.560T>G (p.Leu187Arg) n.69+1848A>C | |
| 17 | g.8121662A>G | CA397987275 | HES7 | c.602T>C (p.Leu201Pro) c.587T>C (p.Leu196Pro) c.707T>C (p.Leu236Pro) c.698T>C (p.Leu233Pro) c.689T>C (p.Leu230Pro) c.560T>C (p.Leu187Pro) n.69+1848A>G | |
| 17 | g.8121662A>T | CA397987278 | HES7 | c.602T>A (p.Leu201Gln) c.587T>A (p.Leu196Gln) c.707T>A (p.Leu236Gln) c.698T>A (p.Leu233Gln) c.689T>A (p.Leu230Gln) c.560T>A (p.Leu187Gln) n.69+1848A>T | |
| 17 | g.8121663G>A | CA497760846 | HES7 | c.601C>T (p.Leu201=) c.586C>T (p.Leu196=) c.706C>T (p.Leu236=) c.697C>T (p.Leu233=) c.688C>T (p.Leu230=) c.559C>T (p.Leu187=) n.69+1849G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121663G>C | CA397987281 | HES7 | c.601C>G (p.Leu201Val) c.586C>G (p.Leu196Val) c.706C>G (p.Leu236Val) c.697C>G (p.Leu233Val) c.688C>G (p.Leu230Val) c.559C>G (p.Leu187Val) n.69+1849G>C | |
| 17 | g.8121663G= | CA2246159987 | HES7 | c.601C= (p.Leu201=) c.586C= (p.Leu196=) c.706C= (p.Leu236=) c.697C= (p.Leu233=) c.688C= (p.Leu230=) c.559C= (p.Leu187=) n.69+1849G= | |
| 17 | g.8121663G>T | CA397987283 | HES7 | c.601C>A (p.Leu201Met) c.586C>A (p.Leu196Met) c.706C>A (p.Leu236Met) c.697C>A (p.Leu233Met) c.688C>A (p.Leu230Met) c.559C>A (p.Leu187Met) n.69+1849G>T | gnomAD v4 |
| 17 | g.8121664T>A | CA497760847 | HES7 | c.600A>T (p.Gly200=) c.585A>T (p.Gly195=) c.705A>T (p.Gly235=) c.696A>T (p.Gly232=) c.687A>T (p.Gly229=) c.558A>T (p.Gly186=) n.69+1850T>A | |
| 17 | g.8121664T>C | CA497760848 | HES7 | c.600A>G (p.Gly200=) c.585A>G (p.Gly195=) c.705A>G (p.Gly235=) c.696A>G (p.Gly232=) c.687A>G (p.Gly229=) c.558A>G (p.Gly186=) n.69+1850T>C | gnomAD v4 |
| 17 | g.8121664T>G | CA497760849 | HES7 | c.600A>C (p.Gly200=) c.585A>C (p.Gly195=) c.705A>C (p.Gly235=) c.696A>C (p.Gly232=) c.687A>C (p.Gly229=) c.558A>C (p.Gly186=) n.69+1850T>G | dbSNP |
| 17 | g.8121664T= | CA2246159989 | HES7 | c.600A= (p.Gly200=) c.585A= (p.Gly195=) c.705A= (p.Gly235=) c.696A= (p.Gly232=) c.687A= (p.Gly229=) c.558A= (p.Gly186=) n.69+1850T= | |
| 17 | g.8121665C>A | CA397987288 | HES7 | c.599G>T (p.Gly200Val) c.584G>T (p.Gly195Val) c.704G>T (p.Gly235Val) c.695G>T (p.Gly232Val) c.686G>T (p.Gly229Val) c.557G>T (p.Gly186Val) n.69+1851C>A | gnomAD v4 |
| 17 | g.8121665C>G | CA397987290 | HES7 | c.599G>C (p.Gly200Ala) c.584G>C (p.Gly195Ala) c.704G>C (p.Gly235Ala) c.695G>C (p.Gly232Ala) c.686G>C (p.Gly229Ala) c.557G>C (p.Gly186Ala) n.69+1851C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121665C>T | CA397987292 | HES7 | c.599G>A (p.Gly200Glu) c.584G>A (p.Gly195Glu) c.704G>A (p.Gly235Glu) c.695G>A (p.Gly232Glu) c.686G>A (p.Gly229Glu) c.557G>A (p.Gly186Glu) n.69+1851C>T | gnomAD v4 |
| 17 | g.8121666C>A | CA397987297 | HES7 | c.598G>T (p.Gly200Ter) c.583G>T (p.Gly195Ter) c.703G>T (p.Gly235Ter) c.694G>T (p.Gly232Ter) c.685G>T (p.Gly229Ter) c.556G>T (p.Gly186Ter) n.69+1852C>A | gnomAD v4 |
| 17 | g.8121666C>G | CA397987296 | HES7 | c.598G>C (p.Gly200Arg) c.583G>C (p.Gly195Arg) c.703G>C (p.Gly235Arg) c.694G>C (p.Gly232Arg) c.685G>C (p.Gly229Arg) c.556G>C (p.Gly186Arg) n.69+1852C>G | |
| 17 | g.8121666C>T | CA397987295 | HES7 | c.598G>A (p.Gly200Arg) c.583G>A (p.Gly195Arg) c.703G>A (p.Gly235Arg) c.694G>A (p.Gly232Arg) c.685G>A (p.Gly229Arg) c.556G>A (p.Gly186Arg) n.69+1852C>T | gnomAD v4 |
| 17 | g.8121667G>A | CA497760850 | HES7 | c.597C>T (p.Thr199=) c.582C>T (p.Thr194=) c.702C>T (p.Thr234=) c.693C>T (p.Thr231=) c.684C>T (p.Thr228=) c.555C>T (p.Thr185=) n.69+1853G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121667G>C | CA497760851 | HES7 | c.597C>G (p.Thr199=) c.582C>G (p.Thr194=) c.702C>G (p.Thr234=) c.693C>G (p.Thr231=) c.684C>G (p.Thr228=) c.555C>G (p.Thr185=) n.69+1853G>C | |
| 17 | g.8121667G= | CA2246159991 | HES7 | c.597C= (p.Thr199=) c.582C= (p.Thr194=) c.702C= (p.Thr234=) c.693C= (p.Thr231=) c.684C= (p.Thr228=) c.555C= (p.Thr185=) n.69+1853G= | |
| 17 | g.8121667G>T | CA497760852 | HES7 | c.597C>A (p.Thr199=) c.582C>A (p.Thr194=) c.702C>A (p.Thr234=) c.693C>A (p.Thr231=) c.684C>A (p.Thr228=) c.555C>A (p.Thr185=) n.69+1853G>T | gnomAD v4 |
| 17 | g.8121668G>A | CA397987298 | HES7 | c.596C>T (p.Thr199Ile) c.581C>T (p.Thr194Ile) c.701C>T (p.Thr234Ile) c.692C>T (p.Thr231Ile) c.683C>T (p.Thr228Ile) c.554C>T (p.Thr185Ile) n.69+1854G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121668G>C | CA397987299 | HES7 | c.596C>G (p.Thr199Ser) c.581C>G (p.Thr194Ser) c.701C>G (p.Thr234Ser) c.692C>G (p.Thr231Ser) c.683C>G (p.Thr228Ser) c.554C>G (p.Thr185Ser) n.69+1854G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121668G= | CA2246159993 | HES7 | c.596C= (p.Thr199=) c.581C= (p.Thr194=) c.701C= (p.Thr234=) c.692C= (p.Thr231=) c.683C= (p.Thr228=) c.554C= (p.Thr185=) n.69+1854G= | |
| 17 | g.8121668G>T | CA397987300 | HES7 | c.596C>A (p.Thr199Asn) c.581C>A (p.Thr194Asn) c.701C>A (p.Thr234Asn) c.692C>A (p.Thr231Asn) c.683C>A (p.Thr228Asn) c.554C>A (p.Thr185Asn) n.69+1854G>T | gnomAD v4 |
| 17 | g.8121669T>A | CA397987302 | HES7 | c.595A>T (p.Thr199Ser) c.580A>T (p.Thr194Ser) c.700A>T (p.Thr234Ser) c.691A>T (p.Thr231Ser) c.682A>T (p.Thr228Ser) c.553A>T (p.Thr185Ser) n.69+1855T>A | gnomAD v4 |
| 17 | g.8121669T>C | CA397987303 | HES7 | c.595A>G (p.Thr199Ala) c.580A>G (p.Thr194Ala) c.700A>G (p.Thr234Ala) c.691A>G (p.Thr231Ala) c.682A>G (p.Thr228Ala) c.553A>G (p.Thr185Ala) n.69+1855T>C | gnomAD v4 |
| 17 | g.8121669T>G | CA397987305 | HES7 | c.595A>C (p.Thr199Pro) c.580A>C (p.Thr194Pro) c.700A>C (p.Thr234Pro) c.691A>C (p.Thr231Pro) c.682A>C (p.Thr228Pro) c.553A>C (p.Thr185Pro) n.69+1855T>G | |
| 17 | g.8121670G>A | CA497760853 | HES7 | c.594C>T (p.Leu198=) c.579C>T (p.Leu193=) c.699C>T (p.Leu233=) c.690C>T (p.Leu230=) c.681C>T (p.Leu227=) c.552C>T (p.Leu184=) n.69+1856G>A | gnomAD v4 |
| 17 | g.8121670G>C | CA497760854 | HES7 | c.594C>G (p.Leu198=) c.579C>G (p.Leu193=) c.699C>G (p.Leu233=) c.690C>G (p.Leu230=) c.681C>G (p.Leu227=) c.552C>G (p.Leu184=) n.69+1856G>C | |
| 17 | g.8121670G>T | CA497760855 | HES7 | c.594C>A (p.Leu198=) c.579C>A (p.Leu193=) c.699C>A (p.Leu233=) c.690C>A (p.Leu230=) c.681C>A (p.Leu227=) c.552C>A (p.Leu184=) n.69+1856G>T | gnomAD v4 |
| 17 | g.8121671A= | CA2246159996 | HES7 | c.593T= (p.Leu198=) c.578T= (p.Leu193=) c.698T= (p.Leu233=) c.689T= (p.Leu230=) c.680T= (p.Leu227=) c.551T= (p.Leu184=) n.69+1857A= | |
| 17 | g.8121671A>C | CA397987308 | HES7 | c.593T>G (p.Leu198Arg) c.578T>G (p.Leu193Arg) c.698T>G (p.Leu233Arg) c.689T>G (p.Leu230Arg) c.680T>G (p.Leu227Arg) c.551T>G (p.Leu184Arg) n.69+1857A>C | gnomAD v4 |
| 17 | g.8121671A>G | CA397987312 | HES7 | c.593T>C (p.Leu198Pro) c.578T>C (p.Leu193Pro) c.698T>C (p.Leu233Pro) c.689T>C (p.Leu230Pro) c.680T>C (p.Leu227Pro) c.551T>C (p.Leu184Pro) n.69+1857A>G | gnomAD v4 |
| 17 | g.8121671A>T | CA397987314 | HES7 | c.593T>A (p.Leu198His) c.578T>A (p.Leu193His) c.698T>A (p.Leu233His) c.689T>A (p.Leu230His) c.680T>A (p.Leu227His) c.551T>A (p.Leu184His) n.69+1857A>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121672G>A | CA397987317 | HES7 | c.592C>T (p.Leu198Phe) c.577C>T (p.Leu193Phe) c.697C>T (p.Leu233Phe) c.688C>T (p.Leu230Phe) c.679C>T (p.Leu227Phe) c.550C>T (p.Leu184Phe) n.69+1858G>A | gnomAD v4 |
| 17 | g.8121672G>C | CA397987318 | HES7 | c.592C>G (p.Leu198Val) c.577C>G (p.Leu193Val) c.697C>G (p.Leu233Val) c.688C>G (p.Leu230Val) c.679C>G (p.Leu227Val) c.550C>G (p.Leu184Val) n.69+1858G>C | |
| 17 | g.8121672G>T | CA397987322 | HES7 | c.592C>A (p.Leu198Ile) c.577C>A (p.Leu193Ile) c.697C>A (p.Leu233Ile) c.688C>A (p.Leu230Ile) c.679C>A (p.Leu227Ile) c.550C>A (p.Leu184Ile) n.69+1858G>T | gnomAD v4 |
| 17 | g.8121673G>A | CA8368614 | HES7 | c.591C>T (p.Pro197=) c.576C>T (p.Pro192=) c.696C>T (p.Pro232=) c.687C>T (p.Pro229=) c.678C>T (p.Pro226=) c.549C>T (p.Pro183=) n.69+1859G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121673G>C | CA497760856 | HES7 | c.591C>G (p.Pro197=) c.576C>G (p.Pro192=) c.696C>G (p.Pro232=) c.687C>G (p.Pro229=) c.678C>G (p.Pro226=) c.549C>G (p.Pro183=) n.69+1859G>C | gnomAD v4 |
| 17 | g.8121673G= | CA2246160003 | HES7 | c.591C= (p.Pro197=) c.576C= (p.Pro192=) c.696C= (p.Pro232=) c.687C= (p.Pro229=) c.678C= (p.Pro226=) c.549C= (p.Pro183=) n.69+1859G= | |
| 17 | g.8121673G>T | CA497760857 | HES7 | c.591C>A (p.Pro197=) c.576C>A (p.Pro192=) c.696C>A (p.Pro232=) c.687C>A (p.Pro229=) c.678C>A (p.Pro226=) c.549C>A (p.Pro183=) n.69+1859G>T | gnomAD v4 |
| 17 | g.8121674G>A | CA397987330 | HES7 | c.590C>T (p.Pro197Leu) c.575C>T (p.Pro192Leu) c.695C>T (p.Pro232Leu) c.686C>T (p.Pro229Leu) c.677C>T (p.Pro226Leu) c.548C>T (p.Pro183Leu) n.69+1860G>A | gnomAD v4 |
| 17 | g.8121674G>C | CA397987331 | HES7 | c.590C>G (p.Pro197Arg) c.575C>G (p.Pro192Arg) c.695C>G (p.Pro232Arg) c.686C>G (p.Pro229Arg) c.677C>G (p.Pro226Arg) c.548C>G (p.Pro183Arg) n.69+1860G>C | |
| 17 | g.8121674G>T | CA397987327 | HES7 | c.590C>A (p.Pro197His) c.575C>A (p.Pro192His) c.695C>A (p.Pro232His) c.686C>A (p.Pro229His) c.677C>A (p.Pro226His) c.548C>A (p.Pro183His) n.69+1860G>T | gnomAD v4 |
| 17 | g.8121675G>A | CA397987334 | HES7 | c.589C>T (p.Pro197Ser) c.574C>T (p.Pro192Ser) c.694C>T (p.Pro232Ser) c.685C>T (p.Pro229Ser) c.676C>T (p.Pro226Ser) c.547C>T (p.Pro183Ser) n.69+1861G>A | dbSNP gnomAD v4 |
| 17 | g.8121675G>C | CA397987339 | HES7 | c.589C>G (p.Pro197Ala) c.574C>G (p.Pro192Ala) c.694C>G (p.Pro232Ala) c.685C>G (p.Pro229Ala) c.676C>G (p.Pro226Ala) c.547C>G (p.Pro183Ala) n.69+1861G>C | gnomAD v4 |
| 17 | g.8121675G= | CA2246160008 | HES7 | c.589C= (p.Pro197=) c.574C= (p.Pro192=) c.694C= (p.Pro232=) c.685C= (p.Pro229=) c.676C= (p.Pro226=) c.547C= (p.Pro183=) n.69+1861G= | |
| 17 | g.8121675G>T | CA397987336 | HES7 | c.589C>A (p.Pro197Thr) c.574C>A (p.Pro192Thr) c.694C>A (p.Pro232Thr) c.685C>A (p.Pro229Thr) c.676C>A (p.Pro226Thr) c.547C>A (p.Pro183Thr) n.69+1861G>T | gnomAD v4 |