Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47733744C>A | CA400058806 | TBX21 | c.290C>A (p.Ala97Glu) n.320C>A | |
17 | g.47733744C= | CA2262805768 | TBX21 | c.290C= (p.Ala97=) n.320C= | |
17 | g.47733744C>G | CA400058808 | TBX21 | c.290C>G (p.Ala97Gly) n.320C>G | |
17 | g.47733744C>T | CA400058809 | TBX21 | c.290C>T (p.Ala97Val) n.320C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47733745G>A | CA500652558 | TBX21 | c.291G>A (p.Ala97=) n.321G>A | gnomAD v4 |
17 | g.47733745G>C | CA500652559 | TBX21 | c.291G>C (p.Ala97=) n.321G>C | dbSNP |
17 | g.47733745G= | CA2262805769 | TBX21 | c.291G= (p.Ala97=) n.321G= | |
17 | g.47733745G>T | CA500652560 | TBX21 | c.291G>T (p.Ala97=) n.321G>T | gnomAD v4 |
17 | g.47733746G>A | CA400058810 | TBX21 | c.292G>A (p.Asp98Asn) n.322G>A | |
17 | g.47733746G>C | CA400058812 | TBX21 | c.292G>C (p.Asp98His) n.322G>C | |
17 | g.47733746G>T | CA400058813 | TBX21 | c.292G>T (p.Asp98Tyr) n.322G>T | |
17 | g.47733747A>C | CA400058814 | TBX21 | c.293A>C (p.Asp98Ala) n.323A>C | |
17 | g.47733747A>G | CA400058815 | TBX21 | c.293A>G (p.Asp98Gly) n.323A>G | gnomAD v4 |
17 | g.47733747A>T | CA400058816 | TBX21 | c.293A>T (p.Asp98Val) n.323A>T | |
17 | g.47733748C>A | CA400058817 | TBX21 | c.294C>A (p.Asp98Glu) n.324C>A | dbSNP |
17 | g.47733748C= | CA2262805770 | TBX21 | c.294C= (p.Asp98=) n.324C= | |
17 | g.47733748C>G | CA400058818 | TBX21 | c.294C>G (p.Asp98Glu) n.324C>G | |
17 | g.47733748C>T | CA8626244 | TBX21 | c.294C>T (p.Asp98=) n.324C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47733749G>A | CA400058821 | TBX21 | c.295G>A (p.Ala99Thr) n.325G>A | gnomAD v4 |
17 | g.47733749G>C | CA400058820 | TBX21 | c.295G>C (p.Ala99Pro) n.325G>C | gnomAD v4 |
17 | g.47733749G>T | CA400058819 | TBX21 | c.295G>T (p.Ala99Ser) n.325G>T | |
17 | g.47733750C>A | CA400058822 | TBX21 | c.296C>A (p.Ala99Asp) n.326C>A | |
17 | g.47733750C>G | CA400058824 | TBX21 | c.296C>G (p.Ala99Gly) n.326C>G | |
17 | g.47733750C>T | CA400058823 | TBX21 | c.296C>T (p.Ala99Val) n.326C>T | |
17 | g.47733750_47733768delinsCCGAGGGCTACCAGCCGGG | CA2262805771 | TBX21 | c.296_314delinsCCGAGGGCTACCAGCCGGG (p.Ala99=) n.326_344delinsCCGAGGGCTACCAGCCGGG | |
17 | g.47733751C>A | CA500652563 | TBX21 | c.297C>A (p.Ala99=) n.327C>A | gnomAD v4 |
17 | g.47733751C= | CA2262805772 | TBX21 | c.297C= (p.Ala99=) n.327C= | |
17 | g.47733751C>G | CA500652561 | TBX21 | c.297C>G (p.Ala99=) n.327C>G | gnomAD v4 |
17 | g.47733751C>T | CA500652562 | TBX21 | c.297C>T (p.Ala99=) n.327C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47733761_47733778dup | CA2638460606 | TBX21 | c.307_324dup (p.Tyr108_Ala109insGlnProGlyGluGlyTyr) n.337_354dup | gnomAD v4 |
17 | g.47733761_47733778del | CA772584930 | TBX21 | c.307_324del (p.Gln103_Tyr108del) n.337_354del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47733752G>A | CA400058825 | TBX21 | c.298G>A (p.Glu100Lys) n.328G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47733752G>C | CA400058826 | TBX21 | c.298G>C (p.Glu100Gln) n.328G>C | |
17 | g.47733752G= | CA2262805773 | TBX21 | c.298G= (p.Glu100=) n.328G= | |
17 | g.47733752G>T | CA400058827 | TBX21 | c.298G>T (p.Glu100Ter) n.328G>T | |
17 | g.47733753A>C | CA400058829 | TBX21 | c.299A>C (p.Glu100Ala) n.329A>C | |
17 | g.47733753A>G | CA400058831 | TBX21 | c.299A>G (p.Glu100Gly) n.329A>G | gnomAD v4 |
17 | g.47733753A>T | CA400058832 | TBX21 | c.299A>T (p.Glu100Val) n.329A>T | |
17 | g.47733754G>A | CA500652564 | TBX21 | c.300G>A (p.Glu100=) n.330G>A | gnomAD v4 |
17 | g.47733754G>C | CA400058834 | TBX21 | c.300G>C (p.Glu100Asp) n.330G>C | |
17 | g.47733754G>T | CA400058835 | TBX21 | c.300G>T (p.Glu100Asp) n.330G>T | gnomAD v4 |
17 | g.47733756del | CA2638460617 | TBX21 | c.302del (p.Gly101AlafsTer?) n.332del | gnomAD v4 |
17 | g.47733755G>A | CA400058837 | TBX21 | c.301G>A (p.Gly101Ser) n.331G>A | |
17 | g.47733755G>C | CA400058840 | TBX21 | c.301G>C (p.Gly101Arg) n.331G>C | |
17 | g.47733755G>T | CA400058842 | TBX21 | c.301G>T (p.Gly101Cys) n.331G>T | |
17 | g.47733756G>A | CA400058849 | TBX21 | c.302G>A (p.Gly101Asp) n.332G>A | |
17 | g.47733756G>C | CA400058844 | TBX21 | c.302G>C (p.Gly101Ala) n.332G>C | |
17 | g.47733756G>T | CA400058846 | TBX21 | c.302G>T (p.Gly101Val) n.332G>T | ClinVar dbSNP gnomAD v4 |
17 | g.47733757C>A | CA500652565 | TBX21 | c.303C>A (p.Gly101=) n.333C>A | |
17 | g.47733757C>G | CA500652566 | TBX21 | c.303C>G (p.Gly101=) n.333C>G |