Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.80026734C>A | CA10461280 | TBX22 | c.664C>A (p.Pro222Thr) c.*276C>A (n.*276C>A) n.543C>A c.304C>A (p.Pro102Thr) c.667C>A (p.Pro223Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.80026734C= | CA2439980743 | TBX22 | c.664C= (p.Pro222=) c.*276C= (n.*276C=) n.543C= c.304C= (p.Pro102=) c.667C= (p.Pro223=) | |
X | g.80026734C>G | CA413740680 | TBX22 | c.664C>G (p.Pro222Ala) c.*276C>G (n.*276C>G) n.543C>G c.304C>G (p.Pro102Ala) c.667C>G (p.Pro223Ala) | |
X | g.80026734C>T | CA413740681 | TBX22 | c.664C>T (p.Pro222Ser) c.*276C>T (n.*276C>T) n.543C>T c.304C>T (p.Pro102Ser) c.667C>T (p.Pro223Ser) | |
X | g.80026737del | CA2580101995 | TBX22 | c.667del (p.Arg223GlufsTer4) c.*279del (n.*279del) n.546del c.307del (p.Arg103GlufsTer4) c.670del (p.Arg224GlufsTer4) | ClinVar |
X | g.80026735C>A | CA413740682 | TBX22 | c.665C>A (p.Pro222His) c.*277C>A (n.*277C>A) n.544C>A c.305C>A (p.Pro102His) c.668C>A (p.Pro223His) | COSMIC |
X | g.80026735C>G | CA413740683 | TBX22 | c.665C>G (p.Pro222Arg) c.*277C>G (n.*277C>G) n.544C>G c.305C>G (p.Pro102Arg) c.668C>G (p.Pro223Arg) | |
X | g.80026735C>T | CA413740684 | TBX22 | c.665C>T (p.Pro222Leu) c.*277C>T (n.*277C>T) n.544C>T c.305C>T (p.Pro102Leu) c.668C>T (p.Pro223Leu) | gnomAD v4 COSMIC |
X | g.80026736C>A | CA517403017 | TBX22 | c.666C>A (p.Pro222=) c.*278C>A (n.*278C>A) n.545C>A c.306C>A (p.Pro102=) c.669C>A (p.Pro223=) | |
X | g.80026736C= | CA2439980744 | TBX22 | c.666C= (p.Pro222=) c.*278C= (n.*278C=) n.545C= c.306C= (p.Pro102=) c.669C= (p.Pro223=) | |
X | g.80026736C>G | CA10461281 | TBX22 | c.666C>G (p.Pro222=) c.*278C>G (n.*278C>G) n.545C>G c.306C>G (p.Pro102=) c.669C>G (p.Pro223=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026736C>T | CA517403018 | TBX22 | c.666C>T (p.Pro222=) c.*278C>T (n.*278C>T) n.545C>T c.306C>T (p.Pro102=) c.669C>T (p.Pro223=) | |
X | g.80026737C>A | CA517403019 | TBX22 | c.667C>A (p.Arg223=) c.*279C>A (n.*279C>A) n.546C>A c.307C>A (p.Arg103=) c.670C>A (p.Arg224=) | COSMIC |
X | g.80026737C>G | CA413740685 | TBX22 | c.667C>G (p.Arg223Gly) c.*279C>G (n.*279C>G) n.546C>G c.307C>G (p.Arg103Gly) c.670C>G (p.Arg224Gly) | |
X | g.80026737C>T | CA413740686 | TBX22 | c.667C>T (p.Arg223Ter) c.*279C>T (n.*279C>T) n.546C>T c.307C>T (p.Arg103Ter) c.670C>T (p.Arg224Ter) | |
X | g.80026738G>A | CA413740687 | TBX22 | c.668G>A (p.Arg223Gln) c.*280G>A (n.*280G>A) n.547G>A c.308G>A (p.Arg103Gln) c.671G>A (p.Arg224Gln) | ClinVar gnomAD v4 |
X | g.80026738G>C | CA413740689 | TBX22 | c.668G>C (p.Arg223Pro) c.*280G>C (n.*280G>C) n.547G>C c.308G>C (p.Arg103Pro) c.671G>C (p.Arg224Pro) | |
X | g.80026738G>T | CA413740688 | TBX22 | c.668G>T (p.Arg223Leu) c.*280G>T (n.*280G>T) n.547G>T c.308G>T (p.Arg103Leu) c.671G>T (p.Arg224Leu) | |
X | g.80026739A>C | CA517403022 | TBX22 | c.669A>C (p.Arg223=) c.*281A>C (n.*281A>C) n.548A>C c.309A>C (p.Arg103=) c.672A>C (p.Arg224=) | gnomAD v4 |
X | g.80026739A>G | CA517403021 | TBX22 | c.669A>G (p.Arg223=) c.*281A>G (n.*281A>G) n.548A>G c.309A>G (p.Arg103=) c.672A>G (p.Arg224=) | |
X | g.80026739A>T | CA517403020 | TBX22 | c.669A>T (p.Arg223=) c.*281A>T (n.*281A>T) n.548A>T c.309A>T (p.Arg103=) c.672A>T (p.Arg224=) | |
X | g.80026740G>A | CA413740690 | TBX22 | c.670G>A (p.Val224Met) c.*282G>A (n.*282G>A) n.549G>A c.310G>A (p.Val104Met) c.673G>A (p.Val225Met) | dbSNP gnomAD v2 gnomAD v4 |
X | g.80026740G>C | CA413740691 | TBX22 | c.670G>C (p.Val224Leu) c.*282G>C (n.*282G>C) n.549G>C c.310G>C (p.Val104Leu) c.673G>C (p.Val225Leu) | |
X | g.80026740G= | CA2439980745 | TBX22 | c.670G= (p.Val224=) c.*282G= (n.*282G=) n.549G= c.310G= (p.Val104=) c.673G= (p.Val225=) | |
X | g.80026740G>T | CA413740692 | TBX22 | c.670G>T (p.Val224Leu) c.*282G>T (n.*282G>T) n.549G>T c.310G>T (p.Val104Leu) c.673G>T (p.Val225Leu) | |
X | g.80026741T>A | CA413740693 | TBX22 | c.671T>A (p.Val224Glu) c.*283T>A (n.*283T>A) n.550T>A c.311T>A (p.Val104Glu) c.674T>A (p.Val225Glu) | gnomAD v4 |
X | g.80026741T>C | CA413740694 | TBX22 | c.671T>C (p.Val224Ala) c.*283T>C (n.*283T>C) n.550T>C c.311T>C (p.Val104Ala) c.674T>C (p.Val225Ala) | |
X | g.80026741T>G | CA413740695 | TBX22 | c.671T>G (p.Val224Gly) c.*283T>G (n.*283T>G) n.550T>G c.311T>G (p.Val104Gly) c.674T>G (p.Val225Gly) | |
X | g.80026742G>A | CA517403023 | TBX22 | c.672G>A (p.Val224=) c.*284G>A (n.*284G>A) n.551G>A c.312G>A (p.Val104=) c.675G>A (p.Val225=) | |
X | g.80026742G>C | CA517403026 | TBX22 | c.672G>C (p.Val224=) c.*284G>C (n.*284G>C) n.551G>C c.312G>C (p.Val104=) c.675G>C (p.Val225=) | |
X | g.80026742G>T | CA517403025 | TBX22 | c.672G>T (p.Val224=) c.*284G>T (n.*284G>T) n.551G>T c.312G>T (p.Val104=) c.675G>T (p.Val225=) | |
X | g.80026743C>A | CA413740697 | TBX22 | c.673C>A (p.His225Asn) c.*285C>A (n.*285C>A) n.552C>A c.313C>A (p.His105Asn) c.676C>A (p.His226Asn) | |
X | g.80026743C= | CA2439980746 | TBX22 | c.673C= (p.His225=) c.*285C= (n.*285C=) n.552C= c.313C= (p.His105=) c.676C= (p.His226=) | |
X | g.80026743C>G | CA413740696 | TBX22 | c.673C>G (p.His225Asp) c.*285C>G (n.*285C>G) n.552C>G c.313C>G (p.His105Asp) c.676C>G (p.His226Asp) | |
X | g.80026743C>T | CA331778189 | TBX22 | c.673C>T (p.His225Tyr) c.*285C>T (n.*285C>T) n.552C>T c.313C>T (p.His105Tyr) c.676C>T (p.His226Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026744A>C | CA413740698 | TBX22 | c.674A>C (p.His225Pro) c.*286A>C (n.*286A>C) n.553A>C c.314A>C (p.His105Pro) c.677A>C (p.His226Pro) | |
X | g.80026744A>G | CA413740699 | TBX22 | c.674A>G (p.His225Arg) c.*286A>G (n.*286A>G) n.553A>G c.314A>G (p.His105Arg) c.677A>G (p.His226Arg) | |
X | g.80026744A>T | CA413740700 | TBX22 | c.674A>T (p.His225Leu) c.*286A>T (n.*286A>T) n.553A>T c.314A>T (p.His105Leu) c.677A>T (p.His226Leu) | |
X | g.80026745C>A | CA413740701 | TBX22 | c.675C>A (p.His225Gln) c.*287C>A (n.*287C>A) n.554C>A c.315C>A (p.His105Gln) c.678C>A (p.His226Gln) | |
X | g.80026745C= | CA2439980747 | TBX22 | c.675C= (p.His225=) c.*287C= (n.*287C=) n.554C= c.315C= (p.His105=) c.678C= (p.His226=) | |
X | g.80026745C>G | CA413740702 | TBX22 | c.675C>G (p.His225Gln) c.*287C>G (n.*287C>G) n.554C>G c.315C>G (p.His105Gln) c.678C>G (p.His226Gln) | |
X | g.80026745C>T | CA10461282 | TBX22 | c.675C>T (p.His225=) c.*287C>T (n.*287C>T) n.554C>T c.315C>T (p.His105=) c.678C>T (p.His226=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026746G>A | CA10461283 | TBX22 | c.676G>A (p.Val226Met) c.*288G>A (n.*288G>A) n.555G>A c.316G>A (p.Val106Met) c.679G>A (p.Val227Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026746G>C | CA413740703 | TBX22 | c.676G>C (p.Val226Leu) c.*288G>C (n.*288G>C) n.555G>C c.316G>C (p.Val106Leu) c.679G>C (p.Val227Leu) | |
X | g.80026746G= | CA2439980748 | TBX22 | c.676G= (p.Val226=) c.*288G= (n.*288G=) n.555G= c.316G= (p.Val106=) c.679G= (p.Val227=) | |
X | g.80026746G>T | CA413740704 | TBX22 | c.676G>T (p.Val226Leu) c.*288G>T (n.*288G>T) n.555G>T c.316G>T (p.Val106Leu) c.679G>T (p.Val227Leu) | |
X | g.80026747T>A | CA413740705 | TBX22 | c.677T>A (p.Val226Glu) c.*289T>A (n.*289T>A) n.556T>A c.317T>A (p.Val106Glu) c.680T>A (p.Val227Glu) | |
X | g.80026747T>C | CA413740706 | TBX22 | c.677T>C (p.Val226Ala) c.*289T>C (n.*289T>C) n.556T>C c.317T>C (p.Val106Ala) c.680T>C (p.Val227Ala) | |
X | g.80026747T>G | CA413740707 | TBX22 | c.677T>G (p.Val226Gly) c.*289T>G (n.*289T>G) n.556T>G c.317T>G (p.Val106Gly) c.680T>G (p.Val227Gly) | |
X | g.80026748G>A | CA517403030 | TBX22 | c.678G>A (p.Val226=) c.*290G>A (n.*290G>A) n.557G>A c.318G>A (p.Val106=) c.681G>A (p.Val227=) | gnomAD v4 |
X | g.80026748G>C | CA517403031 | TBX22 | c.678G>C (p.Val226=) c.*290G>C (n.*290G>C) n.557G>C c.318G>C (p.Val106=) c.681G>C (p.Val227=) | dbSNP |
X | g.80026748G= | CA2439980749 | TBX22 | c.678G= (p.Val226=) c.*290G= (n.*290G=) n.557G= c.318G= (p.Val106=) c.681G= (p.Val227=) | |
X | g.80026748G>T | CA517403033 | TBX22 | c.678G>T (p.Val226=) c.*290G>T (n.*290G>T) n.557G>T c.318G>T (p.Val106=) c.681G>T (p.Val227=) | |
X | g.80026749A>C | CA413740708 | TBX22 | c.679A>C (p.Ile227Leu) c.*291A>C (n.*291A>C) n.558A>C c.319A>C (p.Ile107Leu) c.682A>C (p.Ile228Leu) | gnomAD v4 |
X | g.80026749A>G | CA413740709 | TBX22 | c.679A>G (p.Ile227Val) c.*291A>G (n.*291A>G) n.558A>G c.319A>G (p.Ile107Val) c.682A>G (p.Ile228Val) | |
X | g.80026749A>T | CA413740710 | TBX22 | c.679A>T (p.Ile227Leu) c.*291A>T (n.*291A>T) n.558A>T c.319A>T (p.Ile107Leu) c.682A>T (p.Ile228Leu) | |
X | g.80026750T>A | CA413740711 | TBX22 | c.680T>A (p.Ile227Lys) c.*292T>A (n.*292T>A) n.559T>A c.320T>A (p.Ile107Lys) c.683T>A (p.Ile228Lys) | |
X | g.80026750T>C | CA413740712 | TBX22 | c.680T>C (p.Ile227Thr) c.*292T>C (n.*292T>C) n.559T>C c.320T>C (p.Ile107Thr) c.683T>C (p.Ile228Thr) | |
X | g.80026750T>G | CA413740713 | TBX22 | c.680T>G (p.Ile227Arg) c.*292T>G (n.*292T>G) n.559T>G c.320T>G (p.Ile107Arg) c.683T>G (p.Ile228Arg) | |
X | g.80026751A>C | CA517403034 | TBX22 | c.681A>C (p.Ile227=) c.*293A>C (n.*293A>C) n.560A>C c.321A>C (p.Ile107=) c.684A>C (p.Ile228=) | |
X | g.80026751A>G | CA413740714 | TBX22 | c.681A>G (p.Ile227Met) c.*293A>G (n.*293A>G) n.560A>G c.321A>G (p.Ile107Met) c.684A>G (p.Ile228Met) | |
X | g.80026751A>T | CA517403035 | TBX22 | c.681A>T (p.Ile227=) c.*293A>T (n.*293A>T) n.560A>T c.321A>T (p.Ile107=) c.684A>T (p.Ile228=) | |
X | g.80026752G>A | CA331778190 | TBX22 | c.682G>A (p.Glu228Lys) c.*294G>A (n.*294G>A) n.561G>A c.322G>A (p.Glu108Lys) c.685G>A (p.Glu229Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.80026752G>C | CA413740715 | TBX22 | c.682G>C (p.Glu228Gln) c.*294G>C (n.*294G>C) n.561G>C c.322G>C (p.Glu108Gln) c.685G>C (p.Glu229Gln) | |
X | g.80026752G= | CA2439980750 | TBX22 | c.682G= (p.Glu228=) c.*294G= (n.*294G=) n.561G= c.322G= (p.Glu108=) c.685G= (p.Glu229=) | |
X | g.80026752G>T | CA413740716 | TBX22 | c.682G>T (p.Glu228Ter) c.*294G>T (n.*294G>T) n.561G>T c.322G>T (p.Glu108Ter) c.685G>T (p.Glu229Ter) | |
X | g.80026753A>C | CA413740717 | TBX22 | c.683A>C (p.Glu228Ala) c.*295A>C (n.*295A>C) n.562A>C c.323A>C (p.Glu108Ala) c.686A>C (p.Glu229Ala) | |
X | g.80026753A>G | CA413740719 | TBX22 | c.683A>G (p.Glu228Gly) c.*295A>G (n.*295A>G) n.562A>G c.323A>G (p.Glu108Gly) c.686A>G (p.Glu229Gly) | |
X | g.80026753A>T | CA413740718 | TBX22 | c.683A>T (p.Glu228Val) c.*295A>T (n.*295A>T) n.562A>T c.323A>T (p.Glu108Val) c.686A>T (p.Glu229Val) | dbSNP |
X | g.80026754G>A | CA517403036 | TBX22 | c.684G>A (p.Glu228=) c.*296G>A (n.*296G>A) n.563G>A c.324G>A (p.Glu108=) c.687G>A (p.Glu229=) | dbSNP gnomAD v2 |
X | g.80026754G>C | CA413740720 | TBX22 | c.684G>C (p.Glu228Asp) c.*296G>C (n.*296G>C) n.563G>C c.324G>C (p.Glu108Asp) c.687G>C (p.Glu229Asp) | |
X | g.80026754G= | CA2439980751 | TBX22 | c.684G= (p.Glu228=) c.*296G= (n.*296G=) n.563G= c.324G= (p.Glu108=) c.687G= (p.Glu229=) | |
X | g.80026754G>T | CA413740721 | TBX22 | c.684G>T (p.Glu228Asp) c.*296G>T (n.*296G>T) n.563G>T c.324G>T (p.Glu108Asp) c.687G>T (p.Glu229Asp) | |
X | g.80026755C>A | CA413740722 | TBX22 | c.685C>A (p.Gln229Lys) c.*297C>A (n.*297C>A) n.564C>A c.325C>A (p.Gln109Lys) c.688C>A (p.Gln230Lys) | gnomAD v4 |
X | g.80026755C>G | CA413740723 | TBX22 | c.685C>G (p.Gln229Glu) c.*297C>G (n.*297C>G) n.564C>G c.325C>G (p.Gln109Glu) c.688C>G (p.Gln230Glu) | |
X | g.80026755C>T | CA413740724 | TBX22 | c.685C>T (p.Gln229Ter) c.*297C>T (n.*297C>T) n.564C>T c.325C>T (p.Gln109Ter) c.688C>T (p.Gln230Ter) | |
X | g.80026756A= | CA2439980752 | TBX22 | c.686A= (p.Gln229=) c.*298A= (n.*298A=) n.565A= c.326A= (p.Gln109=) c.689A= (p.Gln230=) | |
X | g.80026756A>C | CA413740725 | TBX22 | c.686A>C (p.Gln229Pro) c.*298A>C (n.*298A>C) n.565A>C c.326A>C (p.Gln109Pro) c.689A>C (p.Gln230Pro) | |
X | g.80026756A>G | CA413740726 | TBX22 | c.686A>G (p.Gln229Arg) c.*298A>G (n.*298A>G) n.565A>G c.326A>G (p.Gln109Arg) c.689A>G (p.Gln230Arg) | gnomAD v4 |
X | g.80026756A>T | CA413740727 | TBX22 | c.686A>T (p.Gln229Leu) c.*298A>T (n.*298A>T) n.565A>T c.326A>T (p.Gln109Leu) c.689A>T (p.Gln230Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.80026757A>C | CA413740728 | TBX22 | c.687A>C (p.Gln229His) c.*299A>C (n.*299A>C) n.566A>C c.327A>C (p.Gln109His) c.690A>C (p.Gln230His) | |
X | g.80026757A>G | CA517403037 | TBX22 | c.687A>G (p.Gln229=) c.*299A>G (n.*299A>G) n.566A>G c.327A>G (p.Gln109=) c.690A>G (p.Gln230=) | |
X | g.80026757A>T | CA413740729 | TBX22 | c.687A>T (p.Gln229His) c.*299A>T (n.*299A>T) n.566A>T c.327A>T (p.Gln109His) c.690A>T (p.Gln230His) | |
X | g.80026758G>A | CA413740730 | TBX22 | c.688G>A (p.Gly230Ser) c.*300G>A (n.*300G>A) n.567G>A c.328G>A (p.Gly110Ser) c.691G>A (p.Gly231Ser) | |
X | g.80026758G>C | CA413740731 | TBX22 | c.688G>C (p.Gly230Arg) c.*300G>C (n.*300G>C) n.567G>C c.328G>C (p.Gly110Arg) c.691G>C (p.Gly231Arg) | |
X | g.80026758G>T | CA413740732 | TBX22 | c.688G>T (p.Gly230Cys) c.*300G>T (n.*300G>T) n.567G>T c.328G>T (p.Gly110Cys) c.691G>T (p.Gly231Cys) | gnomAD v4 |
X | g.80026759G>A | CA10461284 | TBX22 | c.689G>A (p.Gly230Asp) c.*301G>A (n.*301G>A) n.568G>A c.329G>A (p.Gly110Asp) c.692G>A (p.Gly231Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026759G>C | CA413740733 | TBX22 | c.689G>C (p.Gly230Ala) c.*301G>C (n.*301G>C) n.568G>C c.329G>C (p.Gly110Ala) c.692G>C (p.Gly231Ala) | |
X | g.80026759G= | CA2439980753 | TBX22 | c.689G= (p.Gly230=) c.*301G= (n.*301G=) n.568G= c.329G= (p.Gly110=) c.692G= (p.Gly231=) | |
X | g.80026759G>T | CA413740734 | TBX22 | c.689G>T (p.Gly230Val) c.*301G>T (n.*301G>T) n.568G>T c.329G>T (p.Gly110Val) c.692G>T (p.Gly231Val) | |
X | g.80026760C>A | CA517403038 | TBX22 | c.690C>A (p.Gly230=) c.*302C>A (n.*302C>A) n.569C>A c.330C>A (p.Gly110=) c.693C>A (p.Gly231=) | dbSNP |
X | g.80026760C>G | CA517403039 | TBX22 | c.690C>G (p.Gly230=) c.*302C>G (n.*302C>G) n.569C>G c.330C>G (p.Gly110=) c.693C>G (p.Gly231=) | |
X | g.80026760C>T | CA517403040 | TBX22 | c.690C>T (p.Gly230=) c.*302C>T (n.*302C>T) n.569C>T c.330C>T (p.Gly110=) c.693C>T (p.Gly231=) | |
X | g.80026761A>C | CA413740735 | TBX22 | c.691A>C (p.Ser231Arg) c.*303A>C (n.*303A>C) n.570A>C c.331A>C (p.Ser111Arg) c.694A>C (p.Ser232Arg) | |
X | g.80026761A>G | CA413740736 | TBX22 | c.691A>G (p.Ser231Gly) c.*303A>G (n.*303A>G) n.570A>G c.331A>G (p.Ser111Gly) c.694A>G (p.Ser232Gly) | |
X | g.80026761A>T | CA413740737 | TBX22 | c.691A>T (p.Ser231Cys) c.*303A>T (n.*303A>T) n.570A>T c.331A>T (p.Ser111Cys) c.694A>T (p.Ser232Cys) | |
X | g.80026762G>A | CA413740738 | TBX22 | c.692G>A (p.Ser231Asn) c.*304G>A (n.*304G>A) n.571G>A c.332G>A (p.Ser111Asn) c.695G>A (p.Ser232Asn) | dbSNP gnomAD v3 gnomAD v4 |
X | g.80026762G>C | CA413740739 | TBX22 | c.692G>C (p.Ser231Thr) c.*304G>C (n.*304G>C) n.571G>C c.332G>C (p.Ser111Thr) c.695G>C (p.Ser232Thr) | |
X | g.80026762G= | CA2439980754 | TBX22 | c.692G= (p.Ser231=) c.*304G= (n.*304G=) n.571G= c.332G= (p.Ser111=) c.695G= (p.Ser232=) | |
X | g.80026762G>T | CA413740740 | TBX22 | c.692G>T (p.Ser231Ile) c.*304G>T (n.*304G>T) n.571G>T c.332G>T (p.Ser111Ile) c.695G>T (p.Ser232Ile) | |
X | g.80026763C>A | CA413740741 | TBX22 | c.693C>A (p.Ser231Arg) c.*305C>A (n.*305C>A) n.572C>A c.333C>A (p.Ser111Arg) c.696C>A (p.Ser232Arg) | dbSNP gnomAD v3 gnomAD v4 |
X | g.80026763C= | CA2439980755 | TBX22 | c.693C= (p.Ser231=) c.*305C= (n.*305C=) n.572C= c.333C= (p.Ser111=) c.696C= (p.Ser232=) | |
X | g.80026763C>G | CA413740742 | TBX22 | c.693C>G (p.Ser231Arg) c.*305C>G (n.*305C>G) n.572C>G c.333C>G (p.Ser111Arg) c.696C>G (p.Ser232Arg) | dbSNP |
X | g.80026763C>T | CA517403041 | TBX22 | c.693C>T (p.Ser231=) c.*305C>T (n.*305C>T) n.572C>T c.333C>T (p.Ser111=) c.696C>T (p.Ser232=) | |
X | g.80026764A>C | CA413740743 | TBX22 | c.694A>C (p.Ser232Arg) c.*306A>C (n.*306A>C) n.573A>C c.334A>C (p.Ser112Arg) c.697A>C (p.Ser233Arg) | |
X | g.80026764A>G | CA413740744 | TBX22 | c.694A>G (p.Ser232Gly) c.*306A>G (n.*306A>G) n.573A>G c.334A>G (p.Ser112Gly) c.697A>G (p.Ser233Gly) | |
X | g.80026764A>T | CA413740745 | TBX22 | c.694A>T (p.Ser232Cys) c.*306A>T (n.*306A>T) n.573A>T c.334A>T (p.Ser112Cys) c.697A>T (p.Ser233Cys) | |
X | g.80026765G>A | CA413740746 | TBX22 | c.695G>A (p.Ser232Asn) c.*307G>A (n.*307G>A) n.574G>A c.335G>A (p.Ser112Asn) c.698G>A (p.Ser233Asn) | dbSNP |
X | g.80026765G>C | CA413740748 | TBX22 | c.695G>C (p.Ser232Thr) c.*307G>C (n.*307G>C) n.574G>C c.335G>C (p.Ser112Thr) c.698G>C (p.Ser233Thr) | |
X | g.80026765G= | CA2439980756 | TBX22 | c.695G= (p.Ser232=) c.*307G= (n.*307G=) n.574G= c.335G= (p.Ser112=) c.698G= (p.Ser233=) | |
X | g.80026765G>T | CA413740747 | TBX22 | c.695G>T (p.Ser232Ile) c.*307G>T (n.*307G>T) n.574G>T c.335G>T (p.Ser112Ile) c.698G>T (p.Ser233Ile) | |
X | g.80026766T>A | CA413740749 | TBX22 | c.696T>A (p.Ser232Arg) c.*308T>A (n.*308T>A) n.575T>A c.336T>A (p.Ser112Arg) c.699T>A (p.Ser233Arg) | |
X | g.80026766T>C | CA517403042 | TBX22 | c.696T>C (p.Ser232=) c.*308T>C (n.*308T>C) n.575T>C c.336T>C (p.Ser112=) c.699T>C (p.Ser233=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.80026766T>G | CA413740750 | TBX22 | c.696T>G (p.Ser232Arg) c.*308T>G (n.*308T>G) n.575T>G c.336T>G (p.Ser112Arg) c.699T>G (p.Ser233Arg) | |
X | g.80026766T= | CA2439980757 | TBX22 | c.696T= (p.Ser232=) c.*308T= (n.*308T=) n.575T= c.336T= (p.Ser112=) c.699T= (p.Ser233=) | |
X | g.80026767G>A | CA10461285 | TBX22 | c.697G>A (p.Val233Ile) c.*309G>A (n.*309G>A) n.576G>A c.337G>A (p.Val113Ile) c.700G>A (p.Val234Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026767G>C | CA413740751 | TBX22 | c.697G>C (p.Val233Leu) c.*309G>C (n.*309G>C) n.576G>C c.337G>C (p.Val113Leu) c.700G>C (p.Val234Leu) | |
X | g.80026767G= | CA2439980758 | TBX22 | c.697G= (p.Val233=) c.*309G= (n.*309G=) n.576G= c.337G= (p.Val113=) c.700G= (p.Val234=) | |
X | g.80026767G>T | CA413740752 | TBX22 | c.697G>T (p.Val233Phe) c.*309G>T (n.*309G>T) n.576G>T c.337G>T (p.Val113Phe) c.700G>T (p.Val234Phe) | dbSNP |
X | g.80026768T>A | CA413740753 | TBX22 | c.698T>A (p.Val233Asp) c.*310T>A (n.*310T>A) n.577T>A c.338T>A (p.Val113Asp) c.701T>A (p.Val234Asp) | |
X | g.80026768T>C | CA413740754 | TBX22 | c.698T>C (p.Val233Ala) c.*310T>C (n.*310T>C) n.577T>C c.338T>C (p.Val113Ala) c.701T>C (p.Val234Ala) | |
X | g.80026768T>G | CA413740755 | TBX22 | c.698T>G (p.Val233Gly) c.*310T>G (n.*310T>G) n.577T>G c.338T>G (p.Val113Gly) c.701T>G (p.Val234Gly) | |
X | g.80026769T>A | CA517403043 | TBX22 | c.699T>A (p.Val233=) c.*311T>A (n.*311T>A) n.578T>A c.339T>A (p.Val113=) c.702T>A (p.Val234=) | |
X | g.80026769T>C | CA517403044 | TBX22 | c.699T>C (p.Val233=) c.*311T>C (n.*311T>C) n.578T>C c.339T>C (p.Val113=) c.702T>C (p.Val234=) | |
X | g.80026769T>G | CA517403045 | TBX22 | c.699T>G (p.Val233=) c.*311T>G (n.*311T>G) n.578T>G c.339T>G (p.Val113=) c.702T>G (p.Val234=) | |
X | g.80026770G>A | CA413740756 | TBX22 | c.700G>A (p.Asp234Asn) c.*312G>A (n.*312G>A) n.579G>A c.340G>A (p.Asp114Asn) c.703G>A (p.Asp235Asn) | |
X | g.80026770G>C | CA413740757 | TBX22 | c.700G>C (p.Asp234His) c.*312G>C (n.*312G>C) n.579G>C c.340G>C (p.Asp114His) c.703G>C (p.Asp235His) | |
X | g.80026770G>T | CA413740758 | TBX22 | c.700G>T (p.Asp234Tyr) c.*312G>T (n.*312G>T) n.579G>T c.340G>T (p.Asp114Tyr) c.703G>T (p.Asp235Tyr) | |
X | g.80026771A>C | CA413740759 | TBX22 | c.701A>C (p.Asp234Ala) c.*313A>C (n.*313A>C) n.580A>C c.341A>C (p.Asp114Ala) c.704A>C (p.Asp235Ala) | |
X | g.80026771A>G | CA413740760 | TBX22 | c.701A>G (p.Asp234Gly) c.*313A>G (n.*313A>G) n.580A>G c.341A>G (p.Asp114Gly) c.704A>G (p.Asp235Gly) | |
X | g.80026771A>T | CA413740761 | TBX22 | c.701A>T (p.Asp234Val) c.*313A>T (n.*313A>T) n.580A>T c.341A>T (p.Asp114Val) c.704A>T (p.Asp235Val) | |
X | g.80026772C>A | CA413740762 | TBX22 | c.702C>A (p.Asp234Glu) c.*314C>A (n.*314C>A) n.581C>A c.342C>A (p.Asp114Glu) c.705C>A (p.Asp235Glu) | |
X | g.80026772C= | CA2439980759 | TBX22 | c.702C= (p.Asp234=) c.*314C= (n.*314C=) n.581C= c.342C= (p.Asp114=) c.705C= (p.Asp235=) | |
X | g.80026772C>G | CA10461287 | TBX22 | c.702C>G (p.Asp234Glu) c.*314C>G (n.*314C>G) n.581C>G c.342C>G (p.Asp114Glu) c.705C>G (p.Asp235Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.80026772C>T | CA10461286 | TBX22 | c.702C>T (p.Asp234=) c.*314C>T (n.*314C>T) n.581C>T c.342C>T (p.Asp114=) c.705C>T (p.Asp235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.80026773C>A | CA413740763 | TBX22 | c.703C>A (p.Leu235Met) c.*315C>A (n.*315C>A) n.582C>A c.343C>A (p.Leu115Met) c.706C>A (p.Leu236Met) | |
X | g.80026773C>G | CA413740764 | TBX22 | c.703C>G (p.Leu235Val) c.*315C>G (n.*315C>G) n.582C>G c.343C>G (p.Leu115Val) c.706C>G (p.Leu236Val) | |
X | g.80026773C>T | CA517403046 | TBX22 | c.703C>T (p.Leu235=) c.*315C>T (n.*315C>T) n.582C>T c.343C>T (p.Leu115=) c.706C>T (p.Leu236=) | |
X | g.80026774T>A | CA413740765 | TBX22 | c.704T>A (p.Leu235Gln) c.*316T>A (n.*316T>A) n.583T>A c.344T>A (p.Leu115Gln) c.707T>A (p.Leu236Gln) | |
X | g.80026774T>C | CA413740766 | TBX22 | c.704T>C (p.Leu235Pro) c.*316T>C (n.*316T>C) n.583T>C c.344T>C (p.Leu115Pro) c.707T>C (p.Leu236Pro) | |
X | g.80026774T>G | CA413740767 | TBX22 | c.704T>G (p.Leu235Arg) c.*316T>G (n.*316T>G) n.583T>G c.344T>G (p.Leu115Arg) c.707T>G (p.Leu236Arg) | |
X | g.80026775G>A | CA517403047 | TBX22 | c.705G>A (p.Leu235=) c.*317G>A (n.*317G>A) n.584G>A c.345G>A (p.Leu115=) c.708G>A (p.Leu236=) | |
X | g.80026775G>C | CA517403048 | TBX22 | c.705G>C (p.Leu235=) c.*317G>C (n.*317G>C) n.584G>C c.345G>C (p.Leu115=) c.708G>C (p.Leu236=) | |
X | g.80026775G>T | CA517403049 | TBX22 | c.705G>T (p.Leu235=) c.*317G>T (n.*317G>T) n.584G>T c.345G>T (p.Leu115=) c.708G>T (p.Leu236=) | |
X | g.80026776T>A | CA413740768 | TBX22 | c.706T>A (p.Ser236Thr) c.*318T>A (n.*318T>A) n.585T>A c.346T>A (p.Ser116Thr) c.709T>A (p.Ser237Thr) | |
X | g.80026776T>C | CA413740769 | TBX22 | c.706T>C (p.Ser236Pro) c.*318T>C (n.*318T>C) n.585T>C c.346T>C (p.Ser116Pro) c.709T>C (p.Ser237Pro) | |
X | g.80026776T>G | CA413740770 | TBX22 | c.706T>G (p.Ser236Ala) c.*318T>G (n.*318T>G) n.585T>G c.346T>G (p.Ser116Ala) c.709T>G (p.Ser237Ala) | |
X | g.80026777C>A | CA413740771 | TBX22 | c.707C>A (p.Ser236Tyr) c.*319C>A (n.*319C>A) n.586C>A c.347C>A (p.Ser116Tyr) c.710C>A (p.Ser237Tyr) | |
X | g.80026777C= | CA2439980760 | TBX22 | c.707C= (p.Ser236=) c.*319C= (n.*319C=) n.586C= c.347C= (p.Ser116=) c.710C= (p.Ser237=) | |
X | g.80026777C>G | CA413740772 | TBX22 | c.707C>G (p.Ser236Cys) c.*319C>G (n.*319C>G) n.586C>G c.347C>G (p.Ser116Cys) c.710C>G (p.Ser237Cys) | |
X | g.80026777C>T | CA413740773 | TBX22 | c.707C>T (p.Ser236Phe) c.*319C>T (n.*319C>T) n.586C>T c.347C>T (p.Ser116Phe) c.710C>T (p.Ser237Phe) | dbSNP |
X | g.80026778C>A | CA517403051 | TBX22 | c.708C>A (p.Ser236=) c.*320C>A (n.*320C>A) n.587C>A c.348C>A (p.Ser116=) c.711C>A (p.Ser237=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.80026778C= | CA2439980761 | TBX22 | c.708C= (p.Ser236=) c.*320C= (n.*320C=) n.587C= c.348C= (p.Ser116=) c.711C= (p.Ser237=) | |
X | g.80026778C>G | CA517403052 | TBX22 | c.708C>G (p.Ser236=) c.*320C>G (n.*320C>G) n.587C>G c.348C>G (p.Ser116=) c.711C>G (p.Ser237=) | |
X | g.80026778C>T | CA517403050 | TBX22 | c.708C>T (p.Ser236=) c.*320C>T (n.*320C>T) n.587C>T c.348C>T (p.Ser116=) c.711C>T (p.Ser237=) | COSMIC |
X | g.80026779C>A | CA413740776 | TBX22 | c.709C>A (p.Gln237Lys) c.*321C>A (n.*321C>A) n.588C>A c.349C>A (p.Gln117Lys) c.712C>A (p.Gln238Lys) | |
X | g.80026779C= | CA2439980762 | TBX22 | c.709C= (p.Gln237=) c.*321C= (n.*321C=) n.588C= c.349C= (p.Gln117=) c.712C= (p.Gln238=) | |
X | g.80026779C>G | CA413740775 | TBX22 | c.709C>G (p.Gln237Glu) c.*321C>G (n.*321C>G) n.588C>G c.349C>G (p.Gln117Glu) c.712C>G (p.Gln238Glu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.80026779C>T | CA413740774 | TBX22 | c.709C>T (p.Gln237Ter) c.*321C>T (n.*321C>T) n.588C>T c.349C>T (p.Gln117Ter) c.712C>T (p.Gln238Ter) | |
X | g.80026780A= | CA2439980763 | TBX22 | c.710A= (p.Gln237=) c.*322A= (n.*322A=) n.589A= c.350A= (p.Gln117=) c.713A= (p.Gln238=) | |
X | g.80026780A>C | CA331778191 | TBX22 | c.710A>C (p.Gln237Pro) c.*322A>C (n.*322A>C) n.589A>C c.350A>C (p.Gln117Pro) c.713A>C (p.Gln238Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.80026780A>G | CA413740777 | TBX22 | c.710A>G (p.Gln237Arg) c.*322A>G (n.*322A>G) n.589A>G c.350A>G (p.Gln117Arg) c.713A>G (p.Gln238Arg) | |
X | g.80026780A>T | CA413740778 | TBX22 | c.710A>T (p.Gln237Leu) c.*322A>T (n.*322A>T) n.589A>T c.350A>T (p.Gln117Leu) c.713A>T (p.Gln238Leu) | |
X | g.80026781G>A | CA517403053 | TBX22 | c.711G>A (p.Gln237=) c.*323G>A (n.*323G>A) n.590G>A c.351G>A (p.Gln117=) c.714G>A (p.Gln238=) | |
X | g.80026781G>C | CA413740779 | TBX22 | c.711G>C (p.Gln237His) c.*323G>C (n.*323G>C) n.590G>C c.351G>C (p.Gln117His) c.714G>C (p.Gln238His) | gnomAD v4 |
X | g.80026781G>T | CA413740780 | TBX22 | c.711G>T (p.Gln237His) c.*323G>T (n.*323G>T) n.590G>T c.351G>T (p.Gln117His) c.714G>T (p.Gln238His) | gnomAD v4 |
X | g.80026782A>C | CA413740781 | TBX22 | c.712A>C (p.Ile238Leu) c.*324A>C (n.*324A>C) n.591A>C c.352A>C (p.Ile118Leu) c.715A>C (p.Ile239Leu) | |
X | g.80026782A>G | CA413740782 | TBX22 | c.712A>G (p.Ile238Val) c.*324A>G (n.*324A>G) n.591A>G c.352A>G (p.Ile118Val) c.715A>G (p.Ile239Val) | gnomAD v4 |
X | g.80026782A>T | CA413740783 | TBX22 | c.712A>T (p.Ile238Phe) c.*324A>T (n.*324A>T) n.591A>T c.352A>T (p.Ile118Phe) c.715A>T (p.Ile239Phe) | |
X | g.80026783T>A | CA413740784 | TBX22 | c.713T>A (p.Ile238Asn) c.*325T>A (n.*325T>A) n.592T>A c.353T>A (p.Ile118Asn) c.716T>A (p.Ile239Asn) | |
X | g.80026783T>C | CA413740785 | TBX22 | c.713T>C (p.Ile238Thr) c.*325T>C (n.*325T>C) n.592T>C c.353T>C (p.Ile118Thr) c.716T>C (p.Ile239Thr) | |
X | g.80026783T>G | CA413740786 | TBX22 | c.713T>G (p.Ile238Ser) c.*325T>G (n.*325T>G) n.592T>G c.353T>G (p.Ile118Ser) c.716T>G (p.Ile239Ser) | |
X | g.80026784T>A | CA517403054 | TBX22 | c.714T>A (p.Ile238=) c.*326T>A (n.*326T>A) n.593T>A c.354T>A (p.Ile118=) c.717T>A (p.Ile239=) | |
X | g.80026784T>C | CA517403055 | TBX22 | c.714T>C (p.Ile238=) c.*326T>C (n.*326T>C) n.593T>C c.354T>C (p.Ile118=) c.717T>C (p.Ile239=) | |
X | g.80026784T>G | CA413740787 | TBX22 | c.714T>G (p.Ile238Met) c.*326T>G (n.*326T>G) n.593T>G c.354T>G (p.Ile118Met) c.717T>G (p.Ile239Met) | |
X | g.80026785C>A | CA413740790 | TBX22 | c.715C>A (p.Gln239Lys) c.*327C>A (n.*327C>A) n.594C>A c.355C>A (p.Gln119Lys) c.718C>A (p.Gln240Lys) | |
X | g.80026785C>G | CA413740789 | TBX22 | c.715C>G (p.Gln239Glu) c.*327C>G (n.*327C>G) n.594C>G c.355C>G (p.Gln119Glu) c.718C>G (p.Gln240Glu) | COSMIC |
X | g.80026785C>T | CA413740788 | TBX22 | c.715C>T (p.Gln239Ter) c.*327C>T (n.*327C>T) n.594C>T c.355C>T (p.Gln119Ter) c.718C>T (p.Gln240Ter) | |
X | g.80026786A>C | CA413740791 | TBX22 | c.716A>C (p.Gln239Pro) c.*328A>C (n.*328A>C) n.595A>C c.356A>C (p.Gln119Pro) c.719A>C (p.Gln240Pro) | gnomAD v4 |
X | g.80026786A>G | CA413740792 | TBX22 | c.716A>G (p.Gln239Arg) c.*328A>G (n.*328A>G) n.595A>G c.356A>G (p.Gln119Arg) c.719A>G (p.Gln240Arg) | |
X | g.80026786A>T | CA413740793 | TBX22 | c.716A>T (p.Gln239Leu) c.*328A>T (n.*328A>T) n.595A>T c.356A>T (p.Gln119Leu) c.719A>T (p.Gln240Leu) | |
X | g.80026787G>A | CA517403056 | TBX22 | c.717G>A (p.Gln239=) c.*329G>A (n.*329G>A) n.596G>A c.357G>A (p.Gln119=) c.720G>A (p.Gln240=) | |
X | g.80026787G>C | CA413740794 | TBX22 | c.717G>C (p.Gln239His) c.*329G>C (n.*329G>C) n.596G>C c.357G>C (p.Gln119His) c.720G>C (p.Gln240His) | |
X | g.80026787G>T | CA413740795 | TBX22 | c.717G>T (p.Gln239His) c.*329G>T (n.*329G>T) n.596G>T c.357G>T (p.Gln119His) c.720G>T (p.Gln240His) | |
X | g.80026788T>A | CA413740796 | TBX22 | c.718T>A (p.Ser240Thr) c.*330T>A (n.*330T>A) n.597T>A c.358T>A (p.Ser120Thr) c.721T>A (p.Ser241Thr) | |
X | g.80026788T>C | CA413740797 | TBX22 | c.718T>C (p.Ser240Pro) c.*330T>C (n.*330T>C) n.597T>C c.358T>C (p.Ser120Pro) c.721T>C (p.Ser241Pro) | |
X | g.80026788T>G | CA413740798 | TBX22 | c.718T>G (p.Ser240Ala) c.*330T>G (n.*330T>G) n.597T>G c.358T>G (p.Ser120Ala) c.721T>G (p.Ser241Ala) | |
X | g.80026789C>A | CA413740799 | TBX22 | c.719C>A (p.Ser240Tyr) c.*331C>A (n.*331C>A) n.598C>A c.359C>A (p.Ser120Tyr) c.722C>A (p.Ser241Tyr) | |
X | g.80026789C>G | CA413740800 | TBX22 | c.719C>G (p.Ser240Cys) c.*331C>G (n.*331C>G) n.598C>G c.359C>G (p.Ser120Cys) c.722C>G (p.Ser241Cys) | |
X | g.80026789C>T | CA413740801 | TBX22 | c.719C>T (p.Ser240Phe) c.*331C>T (n.*331C>T) n.598C>T c.359C>T (p.Ser120Phe) c.722C>T (p.Ser241Phe) | |
X | g.80026790C>A | CA331778192 | TBX22 | c.720C>A (p.Ser240=) c.*332C>A (n.*332C>A) n.599C>A c.360C>A (p.Ser120=) c.723C>A (p.Ser241=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.80026790C= | CA2439980764 | TBX22 | c.720C= (p.Ser240=) c.*332C= (n.*332C=) n.599C= c.360C= (p.Ser120=) c.723C= (p.Ser241=) | |
X | g.80026790C>G | CA517403057 | TBX22 | c.720C>G (p.Ser240=) c.*332C>G (n.*332C>G) n.599C>G c.360C>G (p.Ser120=) c.723C>G (p.Ser241=) | |
X | g.80026790C>T | CA517403058 | TBX22 | c.720C>T (p.Ser240=) c.*332C>T (n.*332C>T) n.599C>T c.360C>T (p.Ser120=) c.723C>T (p.Ser241=) | |
X | g.80026791T>A | CA413740802 | TBX22 | c.721T>A (p.Leu241Met) c.*333T>A (n.*333T>A) n.600T>A c.361T>A (p.Leu121Met) c.724T>A (p.Leu242Met) | |
X | g.80026791T>C | CA517403059 | TBX22 | c.721T>C (p.Leu241=) c.*333T>C (n.*333T>C) n.600T>C c.361T>C (p.Leu121=) c.724T>C (p.Leu242=) | |
X | g.80026791T>G | CA413740803 | TBX22 | c.721T>G (p.Leu241Val) c.*333T>G (n.*333T>G) n.600T>G c.361T>G (p.Leu121Val) c.724T>G (p.Leu242Val) | gnomAD v4 |
X | g.80026792T>A | CA413740805 | TBX22 | c.722T>A (p.Leu241Ter) c.*334T>A (n.*334T>A) n.601T>A c.362T>A (p.Leu121Ter) c.725T>A (p.Leu242Ter) | |
X | g.80026792T>C | CA413740806 | TBX22 | c.722T>C (p.Leu241Ser) c.*334T>C (n.*334T>C) n.601T>C c.362T>C (p.Leu121Ser) c.725T>C (p.Leu242Ser) | |
X | g.80026792T>G | CA413740804 | TBX22 | c.722T>G (p.Leu241Trp) c.*334T>G (n.*334T>G) n.601T>G c.362T>G (p.Leu121Trp) c.725T>G (p.Leu242Trp) | |
X | g.80026793G>A | CA517403060 | TBX22 | c.723G>A (p.Leu241=) c.*335G>A (n.*335G>A) n.602G>A c.363G>A (p.Leu121=) c.726G>A (p.Leu242=) | |
X | g.80026793G>C | CA413740808 | TBX22 | c.723G>C (p.Leu241Phe) c.*335G>C (n.*335G>C) n.602G>C c.363G>C (p.Leu121Phe) c.726G>C (p.Leu242Phe) | |
X | g.80026793G>T | CA413740807 | TBX22 | c.723G>T (p.Leu241Phe) c.*335G>T (n.*335G>T) n.602G>T c.363G>T (p.Leu121Phe) c.726G>T (p.Leu242Phe) | |
X | g.80026794C>A | CA10461288 | TBX22 | c.724C>A (p.Pro242Thr) c.*336C>A (n.*336C>A) n.603C>A c.364C>A (p.Pro122Thr) c.727C>A (p.Pro243Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.80026794C= | CA2439980765 | TBX22 | c.724C= (p.Pro242=) c.*336C= (n.*336C=) n.603C= c.364C= (p.Pro122=) c.727C= (p.Pro243=) | |
X | g.80026794C>G | CA413740809 | TBX22 | c.724C>G (p.Pro242Ala) c.*336C>G (n.*336C>G) n.603C>G c.364C>G (p.Pro122Ala) c.727C>G (p.Pro243Ala) | |
X | g.80026794C>T | CA413740810 | TBX22 | c.724C>T (p.Pro242Ser) c.*336C>T (n.*336C>T) n.603C>T c.364C>T (p.Pro122Ser) c.727C>T (p.Pro243Ser) | |
X | g.80026795C>A | CA413740811 | TBX22 | c.725C>A (p.Pro242His) c.*337C>A (n.*337C>A) n.604C>A c.365C>A (p.Pro122His) c.728C>A (p.Pro243His) | |
X | g.80026795C>G | CA413740813 | TBX22 | c.725C>G (p.Pro242Arg) c.*337C>G (n.*337C>G) n.604C>G c.365C>G (p.Pro122Arg) c.728C>G (p.Pro243Arg) | |
X | g.80026795C>T | CA413740812 | TBX22 | c.725C>T (p.Pro242Leu) c.*337C>T (n.*337C>T) n.604C>T c.365C>T (p.Pro122Leu) c.728C>T (p.Pro243Leu) | |
X | g.80026796C>A | CA517403061 | TBX22 | c.726C>A (p.Pro242=) c.*338C>A (n.*338C>A) n.605C>A c.366C>A (p.Pro122=) c.729C>A (p.Pro243=) | COSMIC |
X | g.80026796C>G | CA517403062 | TBX22 | c.726C>G (p.Pro242=) c.*338C>G (n.*338C>G) n.605C>G c.366C>G (p.Pro122=) c.729C>G (p.Pro243=) | |
X | g.80026796C>T | CA517403063 | TBX22 | c.726C>T (p.Pro242=) c.*338C>T (n.*338C>T) n.605C>T c.366C>T (p.Pro122=) c.729C>T (p.Pro243=) | |
X | g.80026797A= | CA2439980766 | TBX22 | c.727A= (p.Thr243=) c.*339A= (n.*339A=) n.606A= c.367A= (p.Thr123=) c.730A= (p.Thr244=) | |
X | g.80026797A>C | CA413740814 | TBX22 | c.727A>C (p.Thr243Pro) c.*339A>C (n.*339A>C) n.606A>C c.367A>C (p.Thr123Pro) c.730A>C (p.Thr244Pro) | |
X | g.80026797A>G | CA413740815 | TBX22 | c.727A>G (p.Thr243Ala) c.*339A>G (n.*339A>G) n.606A>G c.367A>G (p.Thr123Ala) c.730A>G (p.Thr244Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.80026797A>T | CA413740816 | TBX22 | c.727A>T (p.Thr243Ser) c.*339A>T (n.*339A>T) n.606A>T c.367A>T (p.Thr123Ser) c.730A>T (p.Thr244Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.80026798C>A | CA413740817 | TBX22 | c.728C>A (p.Thr243Asn) c.*340C>A (n.*340C>A) n.607C>A c.368C>A (p.Thr123Asn) c.731C>A (p.Thr244Asn) | COSMIC |
X | g.80026798C>G | CA413740818 | TBX22 | c.728C>G (p.Thr243Ser) c.*340C>G (n.*340C>G) n.607C>G c.368C>G (p.Thr123Ser) c.731C>G (p.Thr244Ser) | |
X | g.80026798C>T | CA413740819 | TBX22 | c.728C>T (p.Thr243Ile) c.*340C>T (n.*340C>T) n.607C>T c.368C>T (p.Thr123Ile) c.731C>T (p.Thr244Ile) | |
X | g.80026799T>A | CA517403065 | TBX22 | c.729T>A (p.Thr243=) c.*341T>A (n.*341T>A) n.608T>A c.369T>A (p.Thr123=) c.732T>A (p.Thr244=) | |
X | g.80026799T>C | CA10461289 | TBX22 | c.729T>C (p.Thr243=) c.*341T>C (n.*341T>C) n.608T>C c.369T>C (p.Thr123=) c.732T>C (p.Thr244=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.80026799T>G | CA517403064 | TBX22 | c.729T>G (p.Thr243=) c.*341T>G (n.*341T>G) n.608T>G c.369T>G (p.Thr123=) c.732T>G (p.Thr244=) | |
X | g.80026799T= | CA2439980767 | TBX22 | c.729T= (p.Thr243=) c.*341T= (n.*341T=) n.608T= c.369T= (p.Thr123=) c.732T= (p.Thr244=) | |
X | g.80026800G>A | CA413740820 | TBX22 | c.730G>A (p.Glu244Lys) c.*342G>A (n.*342G>A) n.609G>A c.370G>A (p.Glu124Lys) c.733G>A (p.Glu245Lys) | |
X | g.80026800G>C | CA413740821 | TBX22 | c.730G>C (p.Glu244Gln) c.*342G>C (n.*342G>C) n.609G>C c.370G>C (p.Glu124Gln) c.733G>C (p.Glu245Gln) | |
X | g.80026800G>T | CA413740822 | TBX22 | c.730G>T (p.Glu244Ter) c.*342G>T (n.*342G>T) n.609G>T c.370G>T (p.Glu124Ter) c.733G>T (p.Glu245Ter) | |
X | g.80026801A>C | CA413740825 | TBX22 | c.731A>C (p.Glu244Ala) c.*343A>C (n.*343A>C) n.610A>C c.371A>C (p.Glu124Ala) c.734A>C (p.Glu245Ala) | |
X | g.80026801A>G | CA413740824 | TBX22 | c.731A>G (p.Glu244Gly) c.*343A>G (n.*343A>G) n.610A>G c.371A>G (p.Glu124Gly) c.734A>G (p.Glu245Gly) | gnomAD v4 |
X | g.80026801A>T | CA413740823 | TBX22 | c.731A>T (p.Glu244Val) c.*343A>T (n.*343A>T) n.610A>T c.371A>T (p.Glu124Val) c.734A>T (p.Glu245Val) | |
X | g.80026802A>C | CA413740826 | TBX22 | c.732A>C (p.Glu244Asp) c.*344A>C (n.*344A>C) n.611A>C c.372A>C (p.Glu124Asp) c.735A>C (p.Glu245Asp) | |
X | g.80026802A>G | CA517403066 | TBX22 | c.732A>G (p.Glu244=) c.*344A>G (n.*344A>G) n.611A>G c.372A>G (p.Glu124=) c.735A>G (p.Glu245=) | |
X | g.80026802A>T | CA413740827 | TBX22 | c.732A>T (p.Glu244Asp) c.*344A>T (n.*344A>T) n.611A>T c.372A>T (p.Glu124Asp) c.735A>T (p.Glu245Asp) | |
X | g.80026803G>A | CA413740828 | TBX22 | c.733G>A (p.Gly245Ser) c.*345G>A (n.*345G>A) n.612G>A c.373G>A (p.Gly125Ser) c.736G>A (p.Gly246Ser) | |
X | g.80026803G>C | CA413740829 | TBX22 | c.733G>C (p.Gly245Arg) c.*345G>C (n.*345G>C) n.612G>C c.373G>C (p.Gly125Arg) c.736G>C (p.Gly246Arg) | |
X | g.80026803G= | CA2439980768 | TBX22 | c.733G= (p.Gly245=) c.*345G= (n.*345G=) n.612G= c.373G= (p.Gly125=) c.736G= (p.Gly246=) | |
X | g.80026803G>T | CA413740830 | TBX22 | c.733G>T (p.Gly245Cys) c.*345G>T (n.*345G>T) n.612G>T c.373G>T (p.Gly125Cys) c.736G>T (p.Gly246Cys) | dbSNP |
X | g.80026804G>A | CA413740831 | TBX22 | c.734G>A (p.Gly245Asp) c.*346G>A (n.*346G>A) n.613G>A c.374G>A (p.Gly125Asp) c.737G>A (p.Gly246Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.80026804G>C | CA413740832 | TBX22 | c.734G>C (p.Gly245Ala) c.*346G>C (n.*346G>C) n.613G>C c.374G>C (p.Gly125Ala) c.737G>C (p.Gly246Ala) | |
X | g.80026804G= | CA2439980769 | TBX22 | c.734G= (p.Gly245=) c.*346G= (n.*346G=) n.613G= c.374G= (p.Gly125=) c.737G= (p.Gly246=) | |
X | g.80026804G>T | CA413740833 | TBX22 | c.734G>T (p.Gly245Val) c.*346G>T (n.*346G>T) n.613G>T c.374G>T (p.Gly125Val) c.737G>T (p.Gly246Val) | |
X | g.80026805T>A | CA517403069 | TBX22 | c.735T>A (p.Gly245=) c.*347T>A (n.*347T>A) n.614T>A c.375T>A (p.Gly125=) c.738T>A (p.Gly246=) | |
X | g.80026805T>C | CA517403067 | TBX22 | c.735T>C (p.Gly245=) c.*347T>C (n.*347T>C) n.614T>C c.375T>C (p.Gly125=) c.738T>C (p.Gly246=) | |
X | g.80026805T>G | CA517403068 | TBX22 | c.735T>G (p.Gly245=) c.*347T>G (n.*347T>G) n.614T>G c.375T>G (p.Gly125=) c.738T>G (p.Gly246=) | |
X | g.80026806G>A | CA413740834 | TBX22 | c.736G>A (p.Val246Ile) c.*348G>A (n.*348G>A) n.615G>A c.376G>A (p.Val126Ile) c.739G>A (p.Val247Ile) | gnomAD v4 |
X | g.80026806G>C | CA413740835 | TBX22 | c.736G>C (p.Val246Leu) c.*348G>C (n.*348G>C) n.615G>C c.376G>C (p.Val126Leu) c.739G>C (p.Val247Leu) | |
X | g.80026806G>T | CA413740836 | TBX22 | c.736G>T (p.Val246Phe) c.*348G>T (n.*348G>T) n.615G>T c.376G>T (p.Val126Phe) c.739G>T (p.Val247Phe) | gnomAD v4 |
X | g.80026807T>A | CA413740838 | TBX22 | c.737T>A (p.Val246Asp) c.*349T>A (n.*349T>A) n.616T>A c.377T>A (p.Val126Asp) c.740T>A (p.Val247Asp) | |
X | g.80026807T>C | CA413740839 | TBX22 | c.737T>C (p.Val246Ala) c.*349T>C (n.*349T>C) n.616T>C c.377T>C (p.Val126Ala) c.740T>C (p.Val247Ala) | |
X | g.80026807T>G | CA413740837 | TBX22 | c.737T>G (p.Val246Gly) c.*349T>G (n.*349T>G) n.616T>G c.377T>G (p.Val126Gly) c.740T>G (p.Val247Gly) | |
X | g.80026808T>A | CA517403070 | TBX22 | c.738T>A (p.Val246=) c.*350T>A (n.*350T>A) n.617T>A c.378T>A (p.Val126=) c.741T>A (p.Val247=) | |
X | g.80026808T>C | CA517403071 | TBX22 | c.738T>C (p.Val246=) c.*350T>C (n.*350T>C) n.617T>C c.378T>C (p.Val126=) c.741T>C (p.Val247=) | |
X | g.80026808T>G | CA517403072 | TBX22 | c.738T>G (p.Val246=) c.*350T>G (n.*350T>G) n.617T>G c.378T>G (p.Val126=) c.741T>G (p.Val247=) | |
X | g.80026809A>C | CA413740840 | TBX22 | c.739A>C (p.Lys247Gln) c.*351A>C (n.*351A>C) n.618A>C c.379A>C (p.Lys127Gln) c.742A>C (p.Lys248Gln) | |
X | g.80026809A>G | CA413740841 | TBX22 | c.739A>G (p.Lys247Glu) c.*351A>G (n.*351A>G) n.618A>G c.379A>G (p.Lys127Glu) c.742A>G (p.Lys248Glu) | |
X | g.80026809A>T | CA413740842 | TBX22 | c.739A>T (p.Lys247Ter) c.*351A>T (n.*351A>T) n.618A>T c.379A>T (p.Lys127Ter) c.742A>T (p.Lys248Ter) | |
X | g.80026810A>C | CA413740843 | TBX22 | c.740A>C (p.Lys247Thr) c.*352A>C (n.*352A>C) n.619A>C c.380A>C (p.Lys127Thr) c.743A>C (p.Lys248Thr) | |
X | g.80026810A>G | CA413740844 | TBX22 | c.740A>G (p.Lys247Arg) c.*352A>G (n.*352A>G) n.619A>G c.380A>G (p.Lys127Arg) c.743A>G (p.Lys248Arg) | |
X | g.80026810A>T | CA413740845 | TBX22 | c.740A>T (p.Lys247Ile) c.*352A>T (n.*352A>T) n.619A>T c.380A>T (p.Lys127Ile) c.743A>T (p.Lys248Ile) | |
X | g.80026811A>C | CA413740847 | TBX22 | c.741A>C (p.Lys247Asn) c.*353A>C (n.*353A>C) n.620A>C c.381A>C (p.Lys127Asn) c.744A>C (p.Lys248Asn) | |
X | g.80026811A>G | CA517403073 | TBX22 | c.741A>G (p.Lys247=) c.*353A>G (n.*353A>G) n.620A>G c.381A>G (p.Lys127=) c.744A>G (p.Lys248=) | |
X | g.80026811A>T | CA413740846 | TBX22 | c.741A>T (p.Lys247Asn) c.*353A>T (n.*353A>T) n.620A>T c.381A>T (p.Lys127Asn) c.744A>T (p.Lys248Asn) | |
X | g.80026812A>C | CA413740848 | TBX22 | c.742A>C (p.Thr248Pro) c.*354A>C (n.*354A>C) n.621A>C c.382A>C (p.Thr128Pro) c.745A>C (p.Thr249Pro) | |
X | g.80026812A>G | CA413740849 | TBX22 | c.742A>G (p.Thr248Ala) c.*354A>G (n.*354A>G) n.621A>G c.382A>G (p.Thr128Ala) c.745A>G (p.Thr249Ala) | |
X | g.80026812A>T | CA413740850 | TBX22 | c.742A>T (p.Thr248Ser) c.*354A>T (n.*354A>T) n.621A>T c.382A>T (p.Thr128Ser) c.745A>T (p.Thr249Ser) | |
X | g.80026813C>A | CA413740851 | TBX22 | c.743C>A (p.Thr248Lys) c.*355C>A (n.*355C>A) n.622C>A c.383C>A (p.Thr128Lys) c.746C>A (p.Thr249Lys) | |
X | g.80026813C>G | CA413740852 | TBX22 | c.743C>G (p.Thr248Arg) c.*355C>G (n.*355C>G) n.622C>G c.383C>G (p.Thr128Arg) c.746C>G (p.Thr249Arg) | |
X | g.80026813C>T | CA413740853 | TBX22 | c.743C>T (p.Thr248Ile) c.*355C>T (n.*355C>T) n.622C>T c.383C>T (p.Thr128Ile) c.746C>T (p.Thr249Ile) | gnomAD v4 |
X | g.80026814A>C | CA517403074 | TBX22 | c.744A>C (p.Thr248=) c.*356A>C (n.*356A>C) n.623A>C c.384A>C (p.Thr128=) c.747A>C (p.Thr249=) | |
X | g.80026814A>G | CA517403075 | TBX22 | c.744A>G (p.Thr248=) c.*356A>G (n.*356A>G) n.623A>G c.384A>G (p.Thr128=) c.747A>G (p.Thr249=) | |
X | g.80026814A>T | CA517403076 | TBX22 | c.744A>T (p.Thr248=) c.*356A>T (n.*356A>T) n.623A>T c.384A>T (p.Thr128=) c.747A>T (p.Thr249=) | gnomAD v4 |
X | g.80026815T>A | CA413740854 | TBX22 | c.745T>A (p.Phe249Ile) c.*357T>A (n.*357T>A) n.624T>A c.385T>A (p.Phe129Ile) c.748T>A (p.Phe250Ile) | |
X | g.80026815T>C | CA413740856 | TBX22 | c.745T>C (p.Phe249Leu) c.*357T>C (n.*357T>C) n.624T>C c.385T>C (p.Phe129Leu) c.748T>C (p.Phe250Leu) | |
X | g.80026815T>G | CA413740855 | TBX22 | c.745T>G (p.Phe249Val) c.*357T>G (n.*357T>G) n.624T>G c.385T>G (p.Phe129Val) c.748T>G (p.Phe250Val) | |
X | g.80026816T>A | CA413740857 | TBX22 | c.746T>A (p.Phe249Tyr) c.*358T>A (n.*358T>A) n.625T>A c.386T>A (p.Phe129Tyr) c.749T>A (p.Phe250Tyr) | gnomAD v4 |
X | g.80026816T>C | CA413740858 | TBX22 | c.746T>C (p.Phe249Ser) c.*358T>C (n.*358T>C) n.625T>C c.386T>C (p.Phe129Ser) c.749T>C (p.Phe250Ser) | |
X | g.80026816T>G | CA413740859 | TBX22 | c.746T>G (p.Phe249Cys) c.*358T>G (n.*358T>G) n.625T>G c.386T>G (p.Phe129Cys) c.749T>G (p.Phe250Cys) | |
X | g.80026817C>A | CA413740860 | TBX22 | c.747C>A (p.Phe249Leu) c.*359C>A (n.*359C>A) n.626C>A c.387C>A (p.Phe129Leu) c.750C>A (p.Phe250Leu) | gnomAD v4 |
X | g.80026817C>G | CA413740861 | TBX22 | c.747C>G (p.Phe249Leu) c.*359C>G (n.*359C>G) n.626C>G c.387C>G (p.Phe129Leu) c.750C>G (p.Phe250Leu) | |
X | g.80026817C>T | CA517403077 | TBX22 | c.747C>T (p.Phe249=) c.*359C>T (n.*359C>T) n.626C>T c.387C>T (p.Phe129=) c.750C>T (p.Phe250=) | gnomAD v4 |
X | g.80026817_80026818delinsCT | CA2439980770 | TBX22 | c.747_748delinsCT (p.Phe249=) c.*359_*360delinsCT (n.*359_*360delinsCT) n.626_627delinsCT c.387_388delinsCT (p.Phe129=) c.750_751delinsCT (p.Phe250=) | |
X | g.80026818del | CA2439980771 | TBX22 | c.748del (p.Ser250ProfsTer10) c.*360del (n.*360del) n.627del c.388del (p.Ser130ProfsTer10) c.751del (p.Ser251ProfsTer10) | dbSNP |
X | g.80026818T>A | CA413740862 | TBX22 | c.748T>A (p.Ser250Thr) c.*360T>A (n.*360T>A) n.627T>A c.388T>A (p.Ser130Thr) c.751T>A (p.Ser251Thr) | |
X | g.80026818T>C | CA413740863 | TBX22 | c.748T>C (p.Ser250Pro) c.*360T>C (n.*360T>C) n.627T>C c.388T>C (p.Ser130Pro) c.751T>C (p.Ser251Pro) | gnomAD v4 |
X | g.80026818T>G | CA413740864 | TBX22 | c.748T>G (p.Ser250Ala) c.*360T>G (n.*360T>G) n.627T>G c.388T>G (p.Ser130Ala) c.751T>G (p.Ser251Ala) | |
X | g.80026819C>A | CA413740865 | TBX22 | c.749C>A (p.Ser250Tyr) c.*361C>A (n.*361C>A) n.628C>A c.389C>A (p.Ser130Tyr) c.752C>A (p.Ser251Tyr) | |
X | g.80026819C>G | CA413740866 | TBX22 | c.749C>G (p.Ser250Cys) c.*361C>G (n.*361C>G) n.628C>G c.389C>G (p.Ser130Cys) c.752C>G (p.Ser251Cys) | |
X | g.80026819C>T | CA413740867 | TBX22 | c.749C>T (p.Ser250Phe) c.*361C>T (n.*361C>T) n.628C>T c.389C>T (p.Ser130Phe) c.752C>T (p.Ser251Phe) | |
X | g.80026820C>A | CA517403078 | TBX22 | c.750C>A (p.Ser250=) c.*362C>A (n.*362C>A) n.629C>A c.390C>A (p.Ser130=) c.753C>A (p.Ser251=) | |
X | g.80026820C>G | CA517403079 | TBX22 | c.750C>G (p.Ser250=) c.*362C>G (n.*362C>G) n.629C>G c.390C>G (p.Ser130=) c.753C>G (p.Ser251=) | gnomAD v4 |
X | g.80026820C>T | CA517403080 | TBX22 | c.750C>T (p.Ser250=) c.*362C>T (n.*362C>T) n.629C>T c.390C>T (p.Ser130=) c.753C>T (p.Ser251=) | gnomAD v4 |
X | g.80026820_80026822del | CA2524170673 | TBX22 | c.750_752del (p.Phe251del) c.*362_*364del (n.*362_*364del) n.629_631del c.390_392del (p.Phe131del) c.753_755del (p.Phe252del) | |
X | g.80026821T>A | CA413740870 | TBX22 | c.751T>A (p.Phe251Ile) c.*363T>A (n.*363T>A) n.630T>A c.391T>A (p.Phe131Ile) c.754T>A (p.Phe252Ile) | |
X | g.80026821T>C | CA413740869 | TBX22 | c.751T>C (p.Phe251Leu) c.*363T>C (n.*363T>C) n.630T>C c.391T>C (p.Phe131Leu) c.754T>C (p.Phe252Leu) | |
X | g.80026821T>G | CA413740868 | TBX22 | c.751T>G (p.Phe251Val) c.*363T>G (n.*363T>G) n.630T>G c.391T>G (p.Phe131Val) c.754T>G (p.Phe252Val) | |
X | g.80026822T>A | CA413740871 | TBX22 | c.752T>A (p.Phe251Tyr) c.*364T>A (n.*364T>A) n.631T>A c.392T>A (p.Phe131Tyr) c.755T>A (p.Phe252Tyr) | |
X | g.80026822T>C | CA413740873 | TBX22 | c.752T>C (p.Phe251Ser) c.*364T>C (n.*364T>C) n.631T>C c.392T>C (p.Phe131Ser) c.755T>C (p.Phe252Ser) | |
X | g.80026822T>G | CA413740872 | TBX22 | c.752T>G (p.Phe251Cys) c.*364T>G (n.*364T>G) n.631T>G c.392T>G (p.Phe131Cys) c.755T>G (p.Phe252Cys) | |
X | g.80026823T>A | CA413740874 | TBX22 | c.753T>A (p.Phe251Leu) c.*365T>A (n.*365T>A) n.632T>A c.393T>A (p.Phe131Leu) c.756T>A (p.Phe252Leu) | |
X | g.80026823T>C | CA517403081 | TBX22 | c.753T>C (p.Phe251=) c.*365T>C (n.*365T>C) n.632T>C c.393T>C (p.Phe131=) c.756T>C (p.Phe252=) | |
X | g.80026823T>G | CA413740875 | TBX22 | c.753T>G (p.Phe251Leu) c.*365T>G (n.*365T>G) n.632T>G c.393T>G (p.Phe131Leu) c.756T>G (p.Phe252Leu) | |
X | g.80026824A>C | CA413740876 | TBX22 | c.754A>C (p.Lys252Gln) c.*366A>C (n.*366A>C) n.633A>C c.394A>C (p.Lys132Gln) c.757A>C (p.Lys253Gln) | |
X | g.80026824A>G | CA413740877 | TBX22 | c.754A>G (p.Lys252Glu) c.*366A>G (n.*366A>G) n.633A>G c.394A>G (p.Lys132Glu) c.757A>G (p.Lys253Glu) | |
X | g.80026824A>T | CA413740878 | TBX22 | c.754A>T (p.Lys252Ter) c.*366A>T (n.*366A>T) n.633A>T c.394A>T (p.Lys132Ter) c.757A>T (p.Lys253Ter) | |
X | g.80026825A>C | CA413740879 | TBX22 | c.755A>C (p.Lys252Thr) c.*367A>C (n.*367A>C) n.634A>C c.395A>C (p.Lys132Thr) c.758A>C (p.Lys253Thr) | |
X | g.80026825A>G | CA413740880 | TBX22 | c.755A>G (p.Lys252Arg) c.*367A>G (n.*367A>G) n.634A>G c.395A>G (p.Lys132Arg) c.758A>G (p.Lys253Arg) | |
X | g.80026825A>T | CA413740881 | TBX22 | c.755A>T (p.Lys252Ile) c.*367A>T (n.*367A>T) n.634A>T c.395A>T (p.Lys132Ile) c.758A>T (p.Lys253Ile) | |
X | g.80026826A>C | CA413740882 | TBX22 | c.756A>C (p.Lys252Asn) c.*368A>C (n.*368A>C) n.635A>C c.396A>C (p.Lys132Asn) c.759A>C (p.Lys253Asn) | |
X | g.80026826A>G | CA517403082 | TBX22 | c.756A>G (p.Lys252=) c.*368A>G (n.*368A>G) n.635A>G c.396A>G (p.Lys132=) c.759A>G (p.Lys253=) | |
X | g.80026826A>T | CA413740883 | TBX22 | c.756A>T (p.Lys252Asn) c.*368A>T (n.*368A>T) n.635A>T c.396A>T (p.Lys132Asn) c.759A>T (p.Lys253Asn) | |
X | g.80026827G>A | CA331778193 | TBX22 | c.757G>A (p.Glu253Lys) c.*369G>A (n.*369G>A) n.636G>A c.397G>A (p.Glu133Lys) c.760G>A (p.Glu254Lys) | dbSNP |
X | g.80026827G>C | CA413740885 | TBX22 | c.757G>C (p.Glu253Gln) c.*369G>C (n.*369G>C) n.636G>C c.397G>C (p.Glu133Gln) c.760G>C (p.Glu254Gln) | |
X | g.80026827G= | CA2439980772 | TBX22 | c.757G= (p.Glu253=) c.*369G= (n.*369G=) n.636G= c.397G= (p.Glu133=) c.760G= (p.Glu254=) | |
X | g.80026827G>T | CA413740884 | TBX22 | c.757G>T (p.Glu253Ter) c.*369G>T (n.*369G>T) n.636G>T c.397G>T (p.Glu133Ter) c.760G>T (p.Glu254Ter) | |
X | g.80026828A>C | CA413740886 | TBX22 | c.758A>C (p.Glu253Ala) c.*370A>C (n.*370A>C) n.637A>C c.398A>C (p.Glu133Ala) c.761A>C (p.Glu254Ala) | |
X | g.80026828A>G | CA413740887 | TBX22 | c.758A>G (p.Glu253Gly) c.*370A>G (n.*370A>G) n.637A>G c.398A>G (p.Glu133Gly) c.761A>G (p.Glu254Gly) | |
X | g.80026828A>T | CA413740888 | TBX22 | c.758A>T (p.Glu253Val) c.*370A>T (n.*370A>T) n.637A>T c.398A>T (p.Glu133Val) c.761A>T (p.Glu254Val) | |
X | g.80026829A>C | CA413740889 | TBX22 | c.759A>C (p.Glu253Asp) c.*371A>C (n.*371A>C) n.638A>C c.399A>C (p.Glu133Asp) c.762A>C (p.Glu254Asp) | |
X | g.80026829A>G | CA517403083 | TBX22 | c.759A>G (p.Glu253=) c.*371A>G (n.*371A>G) n.638A>G c.399A>G (p.Glu133=) c.762A>G (p.Glu254=) | |
X | g.80026829A>T | CA413740890 | TBX22 | c.759A>T (p.Glu253Asp) c.*371A>T (n.*371A>T) n.638A>T c.399A>T (p.Glu133Asp) c.762A>T (p.Glu254Asp) | |
X | g.80026830A>C | CA413740891 | TBX22 | c.760A>C (p.Thr254Pro) c.*372A>C (n.*372A>C) n.639A>C c.400A>C (p.Thr134Pro) c.763A>C (p.Thr255Pro) | |
X | g.80026830A>G | CA413740892 | TBX22 | c.760A>G (p.Thr254Ala) c.*372A>G (n.*372A>G) n.639A>G c.400A>G (p.Thr134Ala) c.763A>G (p.Thr255Ala) | |
X | g.80026830A>T | CA413740893 | TBX22 | c.760A>T (p.Thr254Ser) c.*372A>T (n.*372A>T) n.639A>T c.400A>T (p.Thr134Ser) c.763A>T (p.Thr255Ser) | |
X | g.80026831C>A | CA413740894 | TBX22 | c.761C>A (p.Thr254Asn) c.*373C>A (n.*373C>A) n.640C>A c.401C>A (p.Thr134Asn) c.764C>A (p.Thr255Asn) | |
X | g.80026831C>G | CA413740895 | TBX22 | c.761C>G (p.Thr254Ser) c.*373C>G (n.*373C>G) n.640C>G c.401C>G (p.Thr134Ser) c.764C>G (p.Thr255Ser) | |
X | g.80026831C>T | CA413740896 | TBX22 | c.761C>T (p.Thr254Ile) c.*373C>T (n.*373C>T) n.640C>T c.401C>T (p.Thr134Ile) c.764C>T (p.Thr255Ile) | |
X | g.80026832del | CA2694191737 | TBX22 | c.762del (p.Glu255SerfsTer5) c.*374del (n.*374del) n.641del c.402del (p.Glu135SerfsTer5) c.765del (p.Glu256SerfsTer5) | gnomAD v4 |
X | g.80026832T>A | CA517403084 | TBX22 | c.762T>A (p.Thr254=) c.*374T>A (n.*374T>A) n.641T>A c.402T>A (p.Thr134=) c.765T>A (p.Thr255=) | |
X | g.80026832T>C | CA517403086 | TBX22 | c.762T>C (p.Thr254=) c.*374T>C (n.*374T>C) n.641T>C c.402T>C (p.Thr134=) c.765T>C (p.Thr255=) | |
X | g.80026832T>G | CA517403085 | TBX22 | c.762T>G (p.Thr254=) c.*374T>G (n.*374T>G) n.641T>G c.402T>G (p.Thr134=) c.765T>G (p.Thr255=) | |
X | g.80026833G>A | CA413740898 | TBX22 | c.763G>A (p.Glu255Lys) c.*375G>A (n.*375G>A) n.642G>A c.403G>A (p.Glu135Lys) c.766G>A (p.Glu256Lys) | COSMIC |
X | g.80026833G>C | CA413740899 | TBX22 | c.763G>C (p.Glu255Gln) c.*375G>C (n.*375G>C) n.642G>C c.403G>C (p.Glu135Gln) c.766G>C (p.Glu256Gln) | |
X | g.80026833G>T | CA413740897 | TBX22 | c.763G>T (p.Glu255Ter) c.*375G>T (n.*375G>T) n.642G>T c.403G>T (p.Glu135Ter) c.766G>T (p.Glu256Ter) | |
X | g.80026834A= | CA2439980773 | TBX22 | c.764A= (p.Glu255=) c.*376A= (n.*376A=) n.643A= c.404A= (p.Glu135=) c.767A= (p.Glu256=) | |
X | g.80026834A>C | CA413740900 | TBX22 | c.764A>C (p.Glu255Ala) c.*376A>C (n.*376A>C) n.643A>C c.404A>C (p.Glu135Ala) c.767A>C (p.Glu256Ala) | gnomAD v4 |
X | g.80026834A>G | CA10461290 | TBX22 | c.764A>G (p.Glu255Gly) c.*376A>G (n.*376A>G) n.643A>G c.404A>G (p.Glu135Gly) c.767A>G (p.Glu256Gly) | dbSNP ExAC |
X | g.80026834A>T | CA413740901 | TBX22 | c.764A>T (p.Glu255Val) c.*376A>T (n.*376A>T) n.643A>T c.404A>T (p.Glu135Val) c.767A>T (p.Glu256Val) |