Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.19764124A>GCA2655308362TBX1c.66-31A>G (n.66-31A>G)
c.540-31A>G (n.540-31A>G)
c.513-31A>G (n.513-31A>G)
c.663-31A>G (n.663-31A>G)
 gnomAD v4
22g.19764125C>ACA10102482TBX1c.66-30C>A (n.66-30C>A)
c.540-30C>A (n.540-30C>A)
c.513-30C>A (n.513-30C>A)
c.663-30C>A (n.663-30C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764125C=CA2396031023TBX1c.66-30C= (n.66-30C=)
c.540-30C= (n.540-30C=)
c.513-30C= (n.513-30C=)
c.663-30C= (n.663-30C=)
22g.19764125C>TCA2655308368TBX1c.66-30C>T (n.66-30C>T)
c.540-30C>T (n.540-30C>T)
c.513-30C>T (n.513-30C>T)
c.663-30C>T (n.663-30C>T)
 gnomAD v4
22g.19764126A=CA2396031024TBX1c.66-29A= (n.66-29A=)
c.540-29A= (n.540-29A=)
c.513-29A= (n.513-29A=)
c.663-29A= (n.663-29A=)
22g.19764126A>GCA2396031025TBX1c.66-29A>G (n.66-29A>G)
c.540-29A>G (n.540-29A>G)
c.513-29A>G (n.513-29A>G)
c.663-29A>G (n.663-29A>G)
 dbSNP gnomAD v4
22g.19764127T>ACA2655308371TBX1c.66-28T>A (n.66-28T>A)
c.540-28T>A (n.540-28T>A)
c.513-28T>A (n.513-28T>A)
c.663-28T>A (n.663-28T>A)
 gnomAD v4
22g.19764127T>GCA2655308372TBX1c.66-28T>G (n.66-28T>G)
c.540-28T>G (n.540-28T>G)
c.513-28T>G (n.513-28T>G)
c.663-28T>G (n.663-28T>G)
 gnomAD v4
22g.19764128G>TCA2655308373TBX1c.66-27G>T (n.66-27G>T)
c.540-27G>T (n.540-27G>T)
c.513-27G>T (n.513-27G>T)
c.663-27G>T (n.663-27G>T)
 gnomAD v4
22g.19764131C=CA2396031026TBX1c.66-24C= (n.66-24C=)
c.540-24C= (n.540-24C=)
c.513-24C= (n.513-24C=)
c.663-24C= (n.663-24C=)
22g.19764131C>TCA10102483TBX1c.66-24C>T (n.66-24C>T)
c.540-24C>T (n.540-24C>T)
c.513-24C>T (n.513-24C>T)
c.663-24C>T (n.663-24C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764132G>ACA10102484TBX1c.66-23G>A (n.66-23G>A)
c.540-23G>A (n.540-23G>A)
c.513-23G>A (n.513-23G>A)
c.663-23G>A (n.663-23G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764132G=CA2396031027TBX1c.66-23G= (n.66-23G=)
c.540-23G= (n.540-23G=)
c.513-23G= (n.513-23G=)
c.663-23G= (n.663-23G=)
22g.19764132G>TCA2525744801TBX1c.66-23G>T (n.66-23G>T)
c.540-23G>T (n.540-23G>T)
c.513-23G>T (n.513-23G>T)
c.663-23G>T (n.663-23G>T)
 gnomAD v4
22g.19764134C>TCA2655308387TBX1c.66-21C>T (n.66-21C>T)
c.540-21C>T (n.540-21C>T)
c.513-21C>T (n.513-21C>T)
c.663-21C>T (n.663-21C>T)
 gnomAD v4
22g.19764137C=CA2396031028TBX1c.66-18C= (n.66-18C=)
c.540-18C= (n.540-18C=)
c.513-18C= (n.513-18C=)
c.663-18C= (n.663-18C=)
22g.19764137C>TCA638358930TBX1c.66-18C>T (n.66-18C>T)
c.540-18C>T (n.540-18C>T)
c.513-18C>T (n.513-18C>T)
c.663-18C>T (n.663-18C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.19764138A=CA2396031029TBX1c.66-17A= (n.66-17A=)
c.540-17A= (n.540-17A=)
c.513-17A= (n.513-17A=)
c.663-17A= (n.663-17A=)
22g.19764138A>CCA10102485TBX1c.66-17A>C (n.66-17A>C)
c.540-17A>C (n.540-17A>C)
c.513-17A>C (n.513-17A>C)
c.663-17A>C (n.663-17A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764139C>ACA2818396264TBX1c.66-16C>A (n.66-16C>A)
c.540-16C>A (n.540-16C>A)
c.513-16C>A (n.513-16C>A)
c.663-16C>A (n.663-16C>A)
22g.19764139C=CA2396031030TBX1c.66-16C= (n.66-16C=)
c.540-16C= (n.540-16C=)
c.513-16C= (n.513-16C=)
c.663-16C= (n.663-16C=)
22g.19764139C>TCA10102486TBX1c.66-16C>T (n.66-16C>T)
c.540-16C>T (n.540-16C>T)
c.513-16C>T (n.513-16C>T)
c.663-16C>T (n.663-16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764140C>ACA2580672982TBX1c.66-15C>A (n.66-15C>A)
c.540-15C>A (n.540-15C>A)
c.513-15C>A (n.513-15C>A)
c.663-15C>A (n.663-15C>A)
22g.19764140C=CA2396031031TBX1c.66-15C= (n.66-15C=)
c.540-15C= (n.540-15C=)
c.513-15C= (n.513-15C=)
c.663-15C= (n.663-15C=)
22g.19764140C>GCA10102487TBX1c.66-15C>G (n.66-15C>G)
c.540-15C>G (n.540-15C>G)
c.513-15C>G (n.513-15C>G)
c.663-15C>G (n.663-15C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764140C>TCA2580672981TBX1c.66-15C>T (n.66-15C>T)
c.540-15C>T (n.540-15C>T)
c.513-15C>T (n.513-15C>T)
c.663-15C>T (n.663-15C>T)
22g.19764141C=CA2396031032TBX1c.66-14C= (n.66-14C=)
c.540-14C= (n.540-14C=)
c.513-14C= (n.513-14C=)
c.663-14C= (n.663-14C=)
22g.19764141C>GCA2396031033TBX1c.66-14C>G (n.66-14C>G)
c.540-14C>G (n.540-14C>G)
c.513-14C>G (n.513-14C>G)
c.663-14C>G (n.663-14C>G)
 dbSNP gnomAD v4
22g.19764141C>TCA638358942TBX1c.66-14C>T (n.66-14C>T)
c.540-14C>T (n.540-14C>T)
c.513-14C>T (n.513-14C>T)
c.663-14C>T (n.663-14C>T)
 dbSNP gnomAD v2 gnomAD v4
22g.19764142C>ACA2655308414TBX1c.66-13C>A (n.66-13C>A)
c.540-13C>A (n.540-13C>A)
c.513-13C>A (n.513-13C>A)
c.663-13C>A (n.663-13C>A)
 gnomAD v4
22g.19764142C=CA2396031034TBX1c.66-13C= (n.66-13C=)
c.540-13C= (n.540-13C=)
c.513-13C= (n.513-13C=)
c.663-13C= (n.663-13C=)
22g.19764142C>TCA10102488TBX1c.66-13C>T (n.66-13C>T)
c.540-13C>T (n.540-13C>T)
c.513-13C>T (n.513-13C>T)
c.663-13C>T (n.663-13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764143G>ACA638358946TBX1c.66-12G>A (n.66-12G>A)
c.540-12G>A (n.540-12G>A)
c.513-12G>A (n.513-12G>A)
c.663-12G>A (n.663-12G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19764143G>CCA2577647154TBX1c.66-12G>C (n.66-12G>C)
c.540-12G>C (n.540-12G>C)
c.513-12G>C (n.513-12G>C)
c.663-12G>C (n.663-12G>C)
 ClinVar gnomAD v4
22g.19764143G=CA2396031035TBX1c.66-12G= (n.66-12G=)
c.540-12G= (n.540-12G=)
c.513-12G= (n.513-12G=)
c.663-12G= (n.663-12G=)
22g.19764143G>TCA2655308423TBX1c.66-12G>T (n.66-12G>T)
c.540-12G>T (n.540-12G>T)
c.513-12G>T (n.513-12G>T)
c.663-12G>T (n.663-12G>T)
 gnomAD v4
22g.19764145G>TCA2655308426TBX1c.66-10G>T (n.66-10G>T)
c.540-10G>T (n.540-10G>T)
c.513-10G>T (n.513-10G>T)
c.663-10G>T (n.663-10G>T)
 gnomAD v4
22g.19764146C>GCA2655308427TBX1c.66-9C>G (n.66-9C>G)
c.540-9C>G (n.540-9C>G)
c.513-9C>G (n.513-9C>G)
c.663-9C>G (n.663-9C>G)
 gnomAD v4
22g.19764147C>ACA2580672983TBX1c.66-8C>A (n.66-8C>A)
c.540-8C>A (n.540-8C>A)
c.513-8C>A (n.513-8C>A)
c.663-8C>A (n.663-8C>A)
22g.19764147C=CA2396031036TBX1c.66-8C= (n.66-8C=)
c.540-8C= (n.540-8C=)
c.513-8C= (n.513-8C=)
c.663-8C= (n.663-8C=)
22g.19764147C>GCA2577647155TBX1c.66-8C>G (n.66-8C>G)
c.540-8C>G (n.540-8C>G)
c.513-8C>G (n.513-8C>G)
c.663-8C>G (n.663-8C>G)
 gnomAD v4
22g.19764147C>TCA10102489TBX1c.66-8C>T (n.66-8C>T)
c.540-8C>T (n.540-8C>T)
c.513-8C>T (n.513-8C>T)
c.663-8C>T (n.663-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764148G>ACA10102490TBX1c.66-7G>A (n.66-7G>A)
c.540-7G>A (n.540-7G>A)
c.513-7G>A (n.513-7G>A)
c.663-7G>A (n.663-7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764148G=CA2396031037TBX1c.66-7G= (n.66-7G=)
c.540-7G= (n.540-7G=)
c.513-7G= (n.513-7G=)
c.663-7G= (n.663-7G=)
22g.19764151C=CA2396031038TBX1c.66-4C= (n.66-4C=)
c.540-4C= (n.540-4C=)
c.513-4C= (n.513-4C=)
c.663-4C= (n.663-4C=)
22g.19764151C>GCA638358954TBX1c.66-4C>G (n.66-4C>G)
c.540-4C>G (n.540-4C>G)
c.513-4C>G (n.513-4C>G)
c.663-4C>G (n.663-4C>G)
 dbSNP gnomAD v2 gnomAD v4
22g.19764151C>TCA2818396269TBX1c.66-4C>T (n.66-4C>T)
c.540-4C>T (n.540-4C>T)
c.513-4C>T (n.513-4C>T)
c.663-4C>T (n.663-4C>T)
22g.19764152C=CA2396031039TBX1c.66-3C= (n.66-3C=)
c.540-3C= (n.540-3C=)
c.513-3C= (n.513-3C=)
c.663-3C= (n.663-3C=)
22g.19764152C>GCA322055589TBX1c.66-3C>G (n.66-3C>G)
c.540-3C>G (n.540-3C>G)
c.513-3C>G (n.513-3C>G)
c.663-3C>G (n.663-3C>G)
 dbSNP
22g.19764152C>TCA10102491TBX1c.66-3C>T (n.66-3C>T)
c.540-3C>T (n.540-3C>T)
c.513-3C>T (n.513-3C>T)
c.663-3C>T (n.663-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764153A>CCA410682519TBX1c.66-2A>C (n.66-2A>C)
c.540-2A>C (n.540-2A>C)
c.513-2A>C (n.513-2A>C)
c.663-2A>C (n.663-2A>C)
22g.19764153A>GCA410682517TBX1c.66-2A>G (n.66-2A>G)
c.540-2A>G (n.540-2A>G)
c.513-2A>G (n.513-2A>G)
c.663-2A>G (n.663-2A>G)
22g.19764153A>TCA410682520TBX1c.66-2A>T (n.66-2A>T)
c.540-2A>T (n.540-2A>T)
c.513-2A>T (n.513-2A>T)
c.663-2A>T (n.663-2A>T)
22g.19764154G>ACA410682523TBX1c.66-1G>A (n.66-1G>A)
c.540-1G>A (n.540-1G>A)
c.513-1G>A (n.513-1G>A)
c.663-1G>A (n.663-1G>A)
22g.19764154G>CCA410682524TBX1c.66-1G>C (n.66-1G>C)
c.540-1G>C (n.540-1G>C)
c.513-1G>C (n.513-1G>C)
c.663-1G>C (n.663-1G>C)
22g.19764154G>TCA410682526TBX1c.66-1G>T (n.66-1G>T)
c.540-1G>T (n.540-1G>T)
c.513-1G>T (n.513-1G>T)
c.663-1G>T (n.663-1G>T)
22g.19764155G>ACA513361121TBX1c.66G>A (p.Arg22=)
c.540G>A (p.Arg180=)
c.513G>A (p.Arg171=)
c.663G>A (p.Arg221=)
22g.19764155G>CCA513361122TBX1c.66G>C (p.Arg22=)
c.540G>C (p.Arg180=)
c.513G>C (p.Arg171=)
c.663G>C (p.Arg221=)
 dbSNP
22g.19764155G=CA2396031040TBX1c.66G= (p.Arg22=)
c.540G= (p.Arg180=)
c.513G= (p.Arg171=)
c.663G= (p.Arg221=)
22g.19764155G>TCA513361123TBX1c.66G>T (p.Arg22=)
c.540G>T (p.Arg180=)
c.513G>T (p.Arg171=)
c.663G>T (p.Arg221=)
22g.19764156T>ACA410682530TBX1c.67T>A (p.Tyr23Asn)
c.541T>A (p.Tyr181Asn)
c.514T>A (p.Tyr172Asn)
c.664T>A (p.Tyr222Asn)
22g.19764156T>CCA410682532TBX1c.67T>C (p.Tyr23His)
c.541T>C (p.Tyr181His)
c.514T>C (p.Tyr172His)
c.664T>C (p.Tyr222His)
22g.19764156T>GCA410682533TBX1c.67T>G (p.Tyr23Asp)
c.541T>G (p.Tyr181Asp)
c.514T>G (p.Tyr172Asp)
c.664T>G (p.Tyr222Asp)
22g.19764157A>CCA410682535TBX1c.68A>C (p.Tyr23Ser)
c.542A>C (p.Tyr181Ser)
c.515A>C (p.Tyr172Ser)
c.665A>C (p.Tyr222Ser)
22g.19764157A>GCA410682537TBX1c.68A>G (p.Tyr23Cys)
c.542A>G (p.Tyr181Cys)
c.515A>G (p.Tyr172Cys)
c.665A>G (p.Tyr222Cys)
22g.19764157A>TCA410682539TBX1c.68A>T (p.Tyr23Phe)
c.542A>T (p.Tyr181Phe)
c.515A>T (p.Tyr172Phe)
c.665A>T (p.Tyr222Phe)
22g.19764158C>ACA410682541TBX1c.69C>A (p.Tyr23Ter)
c.543C>A (p.Tyr181Ter)
c.516C>A (p.Tyr172Ter)
c.666C>A (p.Tyr222Ter)
22g.19764158C=CA2396031041TBX1c.69C= (p.Tyr23=)
c.543C= (p.Tyr181=)
c.516C= (p.Tyr172=)
c.666C= (p.Tyr222=)
22g.19764158C>GCA410682543TBX1c.69C>G (p.Tyr23Ter)
c.543C>G (p.Tyr181Ter)
c.516C>G (p.Tyr172Ter)
c.666C>G (p.Tyr222Ter)
22g.19764158C>TCA10102492TBX1c.69C>T (p.Tyr23=)
c.543C>T (p.Tyr181=)
c.516C>T (p.Tyr172=)
c.666C>T (p.Tyr222=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
22g.19764159_19764173dupCA2655308451TBX1c.70_84dup (p.Ser28_Ser29insAlaPheHisSerSer)
c.544_558dup (p.Ser186_Ser187insAlaPheHisSerSer)
c.517_531dup (p.Ser177_Ser178insAlaPheHisSerSer)
c.667_681dup (p.Ser227_Ser228insAlaPheHisSerSer)
 gnomAD v4
22g.19764159G>ACA410682549TBX1c.70G>A (p.Ala24Thr)
c.544G>A (p.Ala182Thr)
c.517G>A (p.Ala173Thr)
c.667G>A (p.Ala223Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.19764159G>CCA410682545TBX1c.70G>C (p.Ala24Pro)
c.544G>C (p.Ala182Pro)
c.517G>C (p.Ala173Pro)
c.667G>C (p.Ala223Pro)
22g.19764159G=CA2396031042TBX1c.70G= (p.Ala24=)
c.544G= (p.Ala182=)
c.517G= (p.Ala173=)
c.667G= (p.Ala223=)
22g.19764159G>TCA410682547TBX1c.70G>T (p.Ala24Ser)
c.544G>T (p.Ala182Ser)
c.517G>T (p.Ala173Ser)
c.667G>T (p.Ala223Ser)
22g.19764160C>ACA410682551TBX1c.71C>A (p.Ala24Asp)
c.545C>A (p.Ala182Asp)
c.518C>A (p.Ala173Asp)
c.668C>A (p.Ala223Asp)
 gnomAD v4
22g.19764160C>GCA410682553TBX1c.71C>G (p.Ala24Gly)
c.545C>G (p.Ala182Gly)
c.518C>G (p.Ala173Gly)
c.668C>G (p.Ala223Gly)
22g.19764160C>TCA410682554TBX1c.71C>T (p.Ala24Val)
c.545C>T (p.Ala182Val)
c.518C>T (p.Ala173Val)
c.668C>T (p.Ala223Val)
22g.19764161C>ACA513361128TBX1c.72C>A (p.Ala24=)
c.546C>A (p.Ala182=)
c.519C>A (p.Ala173=)
c.669C>A (p.Ala223=)
22g.19764161C=CA2396031043TBX1c.72C= (p.Ala24=)
c.546C= (p.Ala182=)
c.519C= (p.Ala173=)
c.669C= (p.Ala223=)
22g.19764161C>GCA513361129TBX1c.72C>G (p.Ala24=)
c.546C>G (p.Ala182=)
c.519C>G (p.Ala173=)
c.669C>G (p.Ala223=)
22g.19764161C>TCA322055597TBX1c.72C>T (p.Ala24=)
c.546C>T (p.Ala182=)
c.519C>T (p.Ala173=)
c.669C>T (p.Ala223=)
 ClinVar dbSNP
22g.19764162T>ACA410682557TBX1c.73T>A (p.Phe25Ile)
c.547T>A (p.Phe183Ile)
c.520T>A (p.Phe174Ile)
c.670T>A (p.Phe224Ile)
22g.19764162T>CCA410682559TBX1c.73T>C (p.Phe25Leu)
c.547T>C (p.Phe183Leu)
c.520T>C (p.Phe174Leu)
c.670T>C (p.Phe224Leu)
22g.19764162T>GCA410682560TBX1c.73T>G (p.Phe25Val)
c.547T>G (p.Phe183Val)
c.520T>G (p.Phe174Val)
c.670T>G (p.Phe224Val)
22g.19764163T>ACA410682563TBX1c.74T>A (p.Phe25Tyr)
c.548T>A (p.Phe183Tyr)
c.521T>A (p.Phe174Tyr)
c.671T>A (p.Phe224Tyr)
22g.19764163T>CCA410682564TBX1c.74T>C (p.Phe25Ser)
c.548T>C (p.Phe183Ser)
c.521T>C (p.Phe174Ser)
c.671T>C (p.Phe224Ser)
22g.19764163T>GCA410682565TBX1c.74T>G (p.Phe25Cys)
c.548T>G (p.Phe183Cys)
c.521T>G (p.Phe174Cys)
c.671T>G (p.Phe224Cys)
22g.19764164C>ACA410682567TBX1c.75C>A (p.Phe25Leu)
c.549C>A (p.Phe183Leu)
c.522C>A (p.Phe174Leu)
c.672C>A (p.Phe224Leu)
22g.19764164C=CA2396031044TBX1c.75C= (p.Phe25=)
c.549C= (p.Phe183=)
c.522C= (p.Phe174=)
c.672C= (p.Phe224=)
22g.19764164C>GCA410682569TBX1c.75C>G (p.Phe25Leu)
c.549C>G (p.Phe183Leu)
c.522C>G (p.Phe174Leu)
c.672C>G (p.Phe224Leu)
22g.19764164C>TCA513361132TBX1c.75C>T (p.Phe25=)
c.549C>T (p.Phe183=)
c.522C>T (p.Phe174=)
c.672C>T (p.Phe224=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.19764165C>ACA410682572TBX1c.76C>A (p.His26Asn)
c.550C>A (p.His184Asn)
c.523C>A (p.His175Asn)
c.673C>A (p.His225Asn)
22g.19764165C>GCA410682574TBX1c.76C>G (p.His26Asp)
c.550C>G (p.His184Asp)
c.523C>G (p.His175Asp)
c.673C>G (p.His225Asp)
22g.19764165C>TCA410682570TBX1c.76C>T (p.His26Tyr)
c.550C>T (p.His184Tyr)
c.523C>T (p.His175Tyr)
c.673C>T (p.His225Tyr)
22g.19764166A>CCA410682576TBX1c.77A>C (p.His26Pro)
c.551A>C (p.His184Pro)
c.524A>C (p.His175Pro)
c.674A>C (p.His225Pro)
22g.19764166A>GCA410682579TBX1c.77A>G (p.His26Arg)
c.551A>G (p.His184Arg)
c.524A>G (p.His175Arg)
c.674A>G (p.His225Arg)
22g.19764166A>TCA410682581TBX1c.77A>T (p.His26Leu)
c.551A>T (p.His184Leu)
c.524A>T (p.His175Leu)
c.674A>T (p.His225Leu)
22g.19764167C>ACA410682583TBX1c.78C>A (p.His26Gln)
c.552C>A (p.His184Gln)
c.525C>A (p.His175Gln)
c.675C>A (p.His225Gln)
22g.19764167C>GCA410682585TBX1c.78C>G (p.His26Gln)
c.552C>G (p.His184Gln)
c.525C>G (p.His175Gln)
c.675C>G (p.His225Gln)
22g.19764167C>TCA513361134TBX1c.78C>T (p.His26=)
c.552C>T (p.His184=)
c.525C>T (p.His175=)
c.675C>T (p.His225=)
22g.19764168A>CCA410682587TBX1c.79A>C (p.Ser27Arg)
c.553A>C (p.Ser185Arg)
c.526A>C (p.Ser176Arg)
c.676A>C (p.Ser226Arg)
22g.19764168A>GCA410682589TBX1c.79A>G (p.Ser27Gly)
c.553A>G (p.Ser185Gly)
c.526A>G (p.Ser176Gly)
c.676A>G (p.Ser226Gly)
22g.19764168A>TCA410682591TBX1c.79A>T (p.Ser27Cys)
c.553A>T (p.Ser185Cys)
c.526A>T (p.Ser176Cys)
c.676A>T (p.Ser226Cys)
22g.19764169G>ACA410682594TBX1c.80G>A (p.Ser27Asn)
c.554G>A (p.Ser185Asn)
c.527G>A (p.Ser176Asn)
c.677G>A (p.Ser226Asn)
22g.19764169G>CCA410682596TBX1c.80G>C (p.Ser27Thr)
c.554G>C (p.Ser185Thr)
c.527G>C (p.Ser176Thr)
c.677G>C (p.Ser226Thr)
22g.19764169G>TCA410682597TBX1c.80G>T (p.Ser27Ile)
c.554G>T (p.Ser185Ile)
c.527G>T (p.Ser176Ile)
c.677G>T (p.Ser226Ile)
22g.19764170C>ACA410682599TBX1c.81C>A (p.Ser27Arg)
c.555C>A (p.Ser185Arg)
c.528C>A (p.Ser176Arg)
c.678C>A (p.Ser226Arg)
22g.19764170C=CA2396031045TBX1c.81C= (p.Ser27=)
c.555C= (p.Ser185=)
c.528C= (p.Ser176=)
c.678C= (p.Ser226=)
22g.19764170C>GCA410682600TBX1c.81C>G (p.Ser27Arg)
c.555C>G (p.Ser185Arg)
c.528C>G (p.Ser176Arg)
c.678C>G (p.Ser226Arg)
22g.19764170C>TCA513361136TBX1c.81C>T (p.Ser27=)
c.555C>T (p.Ser185=)
c.528C>T (p.Ser176=)
c.678C>T (p.Ser226=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.19764171T>ACA410682604TBX1c.82T>A (p.Ser28Thr)
c.556T>A (p.Ser186Thr)
c.529T>A (p.Ser177Thr)
c.679T>A (p.Ser227Thr)
22g.19764171T>CCA410682603TBX1c.82T>C (p.Ser28Pro)
c.556T>C (p.Ser186Pro)
c.529T>C (p.Ser177Pro)
c.679T>C (p.Ser227Pro)
22g.19764171T>GCA410682602TBX1c.82T>G (p.Ser28Ala)
c.556T>G (p.Ser186Ala)
c.529T>G (p.Ser177Ala)
c.679T>G (p.Ser227Ala)
22g.19764172C>ACA410682606TBX1c.83C>A (p.Ser28Tyr)
c.557C>A (p.Ser186Tyr)
c.530C>A (p.Ser177Tyr)
c.680C>A (p.Ser227Tyr)
22g.19764172C>GCA410682607TBX1c.83C>G (p.Ser28Cys)
c.557C>G (p.Ser186Cys)
c.530C>G (p.Ser177Cys)
c.680C>G (p.Ser227Cys)
22g.19764172C>TCA410682609TBX1c.83C>T (p.Ser28Phe)
c.557C>T (p.Ser186Phe)
c.530C>T (p.Ser177Phe)
c.680C>T (p.Ser227Phe)
22g.19764173C>ACA513361140TBX1c.84C>A (p.Ser28=)
c.558C>A (p.Ser186=)
c.531C>A (p.Ser177=)
c.681C>A (p.Ser227=)
22g.19764173C=CA2396031046TBX1c.84C= (p.Ser28=)
c.558C= (p.Ser186=)
c.531C= (p.Ser177=)
c.681C= (p.Ser227=)
22g.19764173C>GCA513361141TBX1c.84C>G (p.Ser28=)
c.558C>G (p.Ser186=)
c.531C>G (p.Ser177=)
c.681C>G (p.Ser227=)
22g.19764173C>TCA10102493TBX1c.84C>T (p.Ser28=)
c.558C>T (p.Ser186=)
c.531C>T (p.Ser177=)
c.681C>T (p.Ser227=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764174T>ACA410682612TBX1c.85T>A (p.Ser29Thr)
c.559T>A (p.Ser187Thr)
c.532T>A (p.Ser178Thr)
c.682T>A (p.Ser228Thr)
22g.19764174T>CCA410682613TBX1c.85T>C (p.Ser29Pro)
c.559T>C (p.Ser187Pro)
c.532T>C (p.Ser178Pro)
c.682T>C (p.Ser228Pro)
22g.19764174T>GCA410682615TBX1c.85T>G (p.Ser29Ala)
c.559T>G (p.Ser187Ala)
c.532T>G (p.Ser178Ala)
c.682T>G (p.Ser228Ala)
22g.19764175C>ACA410682617TBX1c.86C>A (p.Ser29Tyr)
c.560C>A (p.Ser187Tyr)
c.533C>A (p.Ser178Tyr)
c.683C>A (p.Ser228Tyr)
22g.19764175C>GCA410682618TBX1c.86C>G (p.Ser29Cys)
c.560C>G (p.Ser187Cys)
c.533C>G (p.Ser178Cys)
c.683C>G (p.Ser228Cys)
 gnomAD v4
22g.19764175C>TCA410682619TBX1c.86C>T (p.Ser29Phe)
c.560C>T (p.Ser187Phe)
c.533C>T (p.Ser178Phe)
c.683C>T (p.Ser228Phe)
22g.19764176C>ACA513361143TBX1c.87C>A (p.Ser29=)
c.561C>A (p.Ser187=)
c.534C>A (p.Ser178=)
c.684C>A (p.Ser228=)
22g.19764176C=CA2396031047TBX1c.87C= (p.Ser29=)
c.561C= (p.Ser187=)
c.534C= (p.Ser178=)
c.684C= (p.Ser228=)
22g.19764176C>GCA513361144TBX1c.87C>G (p.Ser29=)
c.561C>G (p.Ser187=)
c.534C>G (p.Ser178=)
c.684C>G (p.Ser228=)
22g.19764176C>TCA513361145TBX1c.87C>T (p.Ser29=)
c.561C>T (p.Ser187=)
c.534C>T (p.Ser178=)
c.684C>T (p.Ser228=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19764177T>ACA410682622TBX1c.88T>A (p.Trp30Arg)
c.562T>A (p.Trp188Arg)
c.535T>A (p.Trp179Arg)
c.685T>A (p.Trp229Arg)
22g.19764177T>CCA410682623TBX1c.88T>C (p.Trp30Arg)
c.562T>C (p.Trp188Arg)
c.535T>C (p.Trp179Arg)
c.685T>C (p.Trp229Arg)
 ClinVar
22g.19764177T>GCA410682625TBX1c.88T>G (p.Trp30Gly)
c.562T>G (p.Trp188Gly)
c.535T>G (p.Trp179Gly)
c.685T>G (p.Trp229Gly)
22g.19764178G>ACA410682632TBX1c.89G>A (p.Trp30Ter)
c.563G>A (p.Trp188Ter)
c.536G>A (p.Trp179Ter)
c.686G>A (p.Trp229Ter)
22g.19764178G>CCA410682629TBX1c.89G>C (p.Trp30Ser)
c.563G>C (p.Trp188Ser)
c.536G>C (p.Trp179Ser)
c.686G>C (p.Trp229Ser)
22g.19764178G>TCA410682627TBX1c.89G>T (p.Trp30Leu)
c.563G>T (p.Trp188Leu)
c.536G>T (p.Trp179Leu)
c.686G>T (p.Trp229Leu)
22g.19764179G>ACA410682634TBX1c.90G>A (p.Trp30Ter)
c.564G>A (p.Trp188Ter)
c.537G>A (p.Trp179Ter)
c.687G>A (p.Trp229Ter)
22g.19764179G>CCA410682637TBX1c.90G>C (p.Trp30Cys)
c.564G>C (p.Trp188Cys)
c.537G>C (p.Trp179Cys)
c.687G>C (p.Trp229Cys)
22g.19764179G>TCA410682635TBX1c.90G>T (p.Trp30Cys)
c.564G>T (p.Trp188Cys)
c.537G>T (p.Trp179Cys)
c.687G>T (p.Trp229Cys)
22g.19764180C>ACA410682639TBX1c.91C>A (p.Leu31Met)
c.565C>A (p.Leu189Met)
c.538C>A (p.Leu180Met)
c.688C>A (p.Leu230Met)
22g.19764180C>GCA410682641TBX1c.91C>G (p.Leu31Val)
c.565C>G (p.Leu189Val)
c.538C>G (p.Leu180Val)
c.688C>G (p.Leu230Val)
22g.19764180C>TCA513361153TBX1c.91C>T (p.Leu31=)
c.565C>T (p.Leu189=)
c.538C>T (p.Leu180=)
c.688C>T (p.Leu230=)
22g.19764181T>ACA410682643TBX1c.92T>A (p.Leu31Gln)
c.566T>A (p.Leu189Gln)
c.539T>A (p.Leu180Gln)
c.689T>A (p.Leu230Gln)
22g.19764181T>CCA410682645TBX1c.92T>C (p.Leu31Pro)
c.566T>C (p.Leu189Pro)
c.539T>C (p.Leu180Pro)
c.689T>C (p.Leu230Pro)
22g.19764181T>GCA410682647TBX1c.92T>G (p.Leu31Arg)
c.566T>G (p.Leu189Arg)
c.539T>G (p.Leu180Arg)
c.689T>G (p.Leu230Arg)
22g.19764182G>ACA513361154TBX1c.93G>A (p.Leu31=)
c.567G>A (p.Leu189=)
c.540G>A (p.Leu180=)
c.690G>A (p.Leu230=)
22g.19764182G>CCA513361155TBX1c.93G>C (p.Leu31=)
c.567G>C (p.Leu189=)
c.540G>C (p.Leu180=)
c.690G>C (p.Leu230=)
 ClinVar
22g.19764182G>TCA513361156TBX1c.93G>T (p.Leu31=)
c.567G>T (p.Leu189=)
c.540G>T (p.Leu180=)
c.690G>T (p.Leu230=)
22g.19764183G>ACA410682649TBX1c.94G>A (p.Val32Met)
c.568G>A (p.Val190Met)
c.541G>A (p.Val181Met)
c.691G>A (p.Val231Met)
 dbSNP gnomAD v2 gnomAD v4
22g.19764183G>CCA410682651TBX1c.94G>C (p.Val32Leu)
c.568G>C (p.Val190Leu)
c.541G>C (p.Val181Leu)
c.691G>C (p.Val231Leu)
22g.19764183G=CA2396031048TBX1c.94G= (p.Val32=)
c.568G= (p.Val190=)
c.541G= (p.Val181=)
c.691G= (p.Val231=)
22g.19764183G>TCA410682653TBX1c.94G>T (p.Val32Leu)
c.568G>T (p.Val190Leu)
c.541G>T (p.Val181Leu)
c.691G>T (p.Val231Leu)
 dbSNP gnomAD v2
22g.19764184T>ACA410682659TBX1c.95T>A (p.Val32Glu)
c.569T>A (p.Val190Glu)
c.542T>A (p.Val181Glu)
c.692T>A (p.Val231Glu)
22g.19764184T>CCA410682658TBX1c.95T>C (p.Val32Ala)
c.569T>C (p.Val190Ala)
c.542T>C (p.Val181Ala)
c.692T>C (p.Val231Ala)
 ClinVar gnomAD v4
22g.19764184T>GCA410682656TBX1c.95T>G (p.Val32Gly)
c.569T>G (p.Val190Gly)
c.542T>G (p.Val181Gly)
c.692T>G (p.Val231Gly)
22g.19764185G>ACA513361158TBX1c.96G>A (p.Val32=)
c.570G>A (p.Val190=)
c.543G>A (p.Val181=)
c.693G>A (p.Val231=)
 ClinVar dbSNP
22g.19764185G>CCA513361159TBX1c.96G>C (p.Val32=)
c.570G>C (p.Val190=)
c.543G>C (p.Val181=)
c.693G>C (p.Val231=)
22g.19764185G>TCA513361160TBX1c.96G>T (p.Val32=)
c.570G>T (p.Val190=)
c.543G>T (p.Val181=)
c.693G>T (p.Val231=)
22g.19764186G>ACA410682662TBX1c.97G>A (p.Ala33Thr)
c.571G>A (p.Ala191Thr)
c.544G>A (p.Ala182Thr)
c.694G>A (p.Ala232Thr)
 gnomAD v4
22g.19764186G>CCA410682664TBX1c.97G>C (p.Ala33Pro)
c.571G>C (p.Ala191Pro)
c.544G>C (p.Ala182Pro)
c.694G>C (p.Ala232Pro)
22g.19764186G>TCA410682665TBX1c.97G>T (p.Ala33Ser)
c.571G>T (p.Ala191Ser)
c.544G>T (p.Ala182Ser)
c.694G>T (p.Ala232Ser)
22g.19764187C>ACA410682668TBX1c.98C>A (p.Ala33Glu)
c.572C>A (p.Ala191Glu)
c.545C>A (p.Ala182Glu)
c.695C>A (p.Ala232Glu)
22g.19764187C=CA2396031049TBX1c.98C= (p.Ala33=)
c.572C= (p.Ala191=)
c.545C= (p.Ala182=)
c.695C= (p.Ala232=)
22g.19764187C>GCA410682670TBX1c.98C>G (p.Ala33Gly)
c.572C>G (p.Ala191Gly)
c.545C>G (p.Ala182Gly)
c.695C>G (p.Ala232Gly)
22g.19764187C>TCA10102494TBX1c.98C>T (p.Ala33Val)
c.572C>T (p.Ala191Val)
c.545C>T (p.Ala182Val)
c.695C>T (p.Ala232Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
22g.19764188G>ACA16608110TBX1c.99G>A (p.Ala33=)
c.573G>A (p.Ala191=)
c.546G>A (p.Ala182=)
c.696G>A (p.Ala232=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19764188G>CCA513361164TBX1c.99G>C (p.Ala33=)
c.573G>C (p.Ala191=)
c.546G>C (p.Ala182=)
c.696G>C (p.Ala232=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.19764188G=CA2396031050TBX1c.99G= (p.Ala33=)
c.573G= (p.Ala191=)
c.546G= (p.Ala182=)
c.696G= (p.Ala232=)
22g.19764188G>TCA513361165TBX1c.99G>T (p.Ala33=)
c.573G>T (p.Ala191=)
c.546G>T (p.Ala182=)
c.696G>T (p.Ala232=)
 gnomAD v4
22g.19764191delCA2695230433TBX1c.102del (p.Lys35ArgfsTer24)
c.576del (p.Lys193ArgfsTer24)
c.549del (p.Lys184ArgfsTer24)
c.699del (p.Lys234ArgfsTer24)
22g.19764189G>ACA410682673TBX1c.100G>A (p.Gly34Arg)
c.574G>A (p.Gly192Arg)
c.547G>A (p.Gly183Arg)
c.697G>A (p.Gly233Arg)
22g.19764189G>CCA410682676TBX1c.100G>C (p.Gly34Arg)
c.574G>C (p.Gly192Arg)
c.547G>C (p.Gly183Arg)
c.697G>C (p.Gly233Arg)
22g.19764189G>TCA410682675TBX1c.100G>T (p.Gly34Trp)
c.574G>T (p.Gly192Trp)
c.547G>T (p.Gly183Trp)
c.697G>T (p.Gly233Trp)
22g.19764190G>ACA410682679TBX1c.101G>A (p.Gly34Glu)
c.575G>A (p.Gly192Glu)
c.548G>A (p.Gly183Glu)
c.698G>A (p.Gly233Glu)
 dbSNP gnomAD v2 gnomAD v4
22g.19764190G>CCA410682681TBX1c.101G>C (p.Gly34Ala)
c.575G>C (p.Gly192Ala)
c.548G>C (p.Gly183Ala)
c.698G>C (p.Gly233Ala)
22g.19764190G=CA2396031051TBX1c.101G= (p.Gly34=)
c.575G= (p.Gly192=)
c.548G= (p.Gly183=)
c.698G= (p.Gly233=)
22g.19764190G>TCA410682683TBX1c.101G>T (p.Gly34Val)
c.575G>T (p.Gly192Val)
c.548G>T (p.Gly183Val)
c.698G>T (p.Gly233Val)
22g.19764191G>ACA10102495TBX1c.102G>A (p.Gly34=)
c.576G>A (p.Gly192=)
c.549G>A (p.Gly183=)
c.699G>A (p.Gly233=)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764191G>CCA513361167TBX1c.102G>C (p.Gly34=)
c.576G>C (p.Gly192=)
c.549G>C (p.Gly183=)
c.699G>C (p.Gly233=)
22g.19764191G=CA2396031052TBX1c.102G= (p.Gly34=)
c.576G= (p.Gly192=)
c.549G= (p.Gly183=)
c.699G= (p.Gly233=)
22g.19764191G>TCA513361168TBX1c.102G>T (p.Gly34=)
c.576G>T (p.Gly192=)
c.549G>T (p.Gly183=)
c.699G>T (p.Gly233=)
22g.19764192A>CCA410682686TBX1c.103A>C (p.Lys35Gln)
c.577A>C (p.Lys193Gln)
c.550A>C (p.Lys184Gln)
c.700A>C (p.Lys234Gln)
22g.19764192A>GCA410682688TBX1c.103A>G (p.Lys35Glu)
c.577A>G (p.Lys193Glu)
c.550A>G (p.Lys184Glu)
c.700A>G (p.Lys234Glu)
22g.19764192A>TCA410682690TBX1c.103A>T (p.Lys35Ter)
c.577A>T (p.Lys193Ter)
c.550A>T (p.Lys184Ter)
c.700A>T (p.Lys234Ter)
22g.19764193A>CCA410682691TBX1c.104A>C (p.Lys35Thr)
c.578A>C (p.Lys193Thr)
c.551A>C (p.Lys184Thr)
c.701A>C (p.Lys234Thr)
22g.19764193A>GCA410682693TBX1c.104A>G (p.Lys35Arg)
c.578A>G (p.Lys193Arg)
c.551A>G (p.Lys184Arg)
c.701A>G (p.Lys234Arg)
22g.19764193A>TCA410682695TBX1c.104A>T (p.Lys35Met)
c.578A>T (p.Lys193Met)
c.551A>T (p.Lys184Met)
c.701A>T (p.Lys234Met)
22g.19764194G>ACA513361169TBX1c.105G>A (p.Lys35=)
c.579G>A (p.Lys193=)
c.552G>A (p.Lys184=)
c.702G>A (p.Lys234=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19764194G>CCA410682697TBX1c.105G>C (p.Lys35Asn)
c.579G>C (p.Lys193Asn)
c.552G>C (p.Lys184Asn)
c.702G>C (p.Lys234Asn)
22g.19764194G=CA2396031053TBX1c.105G= (p.Lys35=)
c.579G= (p.Lys193=)
c.552G= (p.Lys184=)
c.702G= (p.Lys234=)
22g.19764194G>TCA410682699TBX1c.105G>T (p.Lys35Asn)
c.579G>T (p.Lys193Asn)
c.552G>T (p.Lys184Asn)
c.702G>T (p.Lys234Asn)
 ClinVar gnomAD v4
22g.19764195G>ACA410682701TBX1c.106G>A (p.Ala36Thr)
c.580G>A (p.Ala194Thr)
c.553G>A (p.Ala185Thr)
c.703G>A (p.Ala235Thr)
22g.19764195G>CCA410682705TBX1c.106G>C (p.Ala36Pro)
c.580G>C (p.Ala194Pro)
c.553G>C (p.Ala185Pro)
c.703G>C (p.Ala235Pro)
22g.19764195G>TCA410682703TBX1c.106G>T (p.Ala36Ser)
c.580G>T (p.Ala194Ser)
c.553G>T (p.Ala185Ser)
c.703G>T (p.Ala235Ser)
22g.19764196C>ACA410682708TBX1c.107C>A (p.Ala36Asp)
c.581C>A (p.Ala194Asp)
c.554C>A (p.Ala185Asp)
c.704C>A (p.Ala235Asp)
22g.19764196C>GCA410682709TBX1c.107C>G (p.Ala36Gly)
c.581C>G (p.Ala194Gly)
c.554C>G (p.Ala185Gly)
c.704C>G (p.Ala235Gly)
22g.19764196C>TCA410682711TBX1c.107C>T (p.Ala36Val)
c.581C>T (p.Ala194Val)
c.554C>T (p.Ala185Val)
c.704C>T (p.Ala235Val)
22g.19764197C>ACA513361171TBX1c.108C>A (p.Ala36=)
c.582C>A (p.Ala194=)
c.555C>A (p.Ala185=)
c.705C>A (p.Ala235=)
22g.19764197C=CA2396031054TBX1c.108C= (p.Ala36=)
c.582C= (p.Ala194=)
c.555C= (p.Ala185=)
c.705C= (p.Ala235=)
22g.19764197C>GCA513361172TBX1c.108C>G (p.Ala36=)
c.582C>G (p.Ala194=)
c.555C>G (p.Ala185=)
c.705C>G (p.Ala235=)
22g.19764197C>TCA10102496TBX1c.108C>T (p.Ala36=)
c.582C>T (p.Ala194=)
c.555C>T (p.Ala185=)
c.705C>T (p.Ala235=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764198G>ACA410682714TBX1c.109G>A (p.Asp37Asn)
c.583G>A (p.Asp195Asn)
c.556G>A (p.Asp186Asn)
c.706G>A (p.Asp236Asn)
 dbSNP gnomAD v3 gnomAD v4
22g.19764198G>CCA410682716TBX1c.109G>C (p.Asp37His)
c.583G>C (p.Asp195His)
c.556G>C (p.Asp186His)
c.706G>C (p.Asp236His)
22g.19764198G=CA2396031055TBX1c.109G= (p.Asp37=)
c.583G= (p.Asp195=)
c.556G= (p.Asp186=)
c.706G= (p.Asp236=)
22g.19764198G>TCA410682718TBX1c.109G>T (p.Asp37Tyr)
c.583G>T (p.Asp195Tyr)
c.556G>T (p.Asp186Tyr)
c.706G>T (p.Asp236Tyr)
 gnomAD v4
22g.19764199A=CA2396031056TBX1c.110A= (p.Asp37=)
c.584A= (p.Asp195=)
c.557A= (p.Asp186=)
c.707A= (p.Asp236=)
22g.19764199A>CCA410682720TBX1c.110A>C (p.Asp37Ala)
c.584A>C (p.Asp195Ala)
c.557A>C (p.Asp186Ala)
c.707A>C (p.Asp236Ala)
 dbSNP
22g.19764199A>GCA410682721TBX1c.110A>G (p.Asp37Gly)
c.584A>G (p.Asp195Gly)
c.557A>G (p.Asp186Gly)
c.707A>G (p.Asp236Gly)
22g.19764199A>TCA410682723TBX1c.110A>T (p.Asp37Val)
c.584A>T (p.Asp195Val)
c.557A>T (p.Asp186Val)
c.707A>T (p.Asp236Val)
22g.19764200C>ACA410682724TBX1c.111C>A (p.Asp37Glu)
c.585C>A (p.Asp195Glu)
c.558C>A (p.Asp186Glu)
c.708C>A (p.Asp236Glu)
 gnomAD v4
22g.19764200C>GCA410682726TBX1c.111C>G (p.Asp37Glu)
c.585C>G (p.Asp195Glu)
c.558C>G (p.Asp186Glu)
c.708C>G (p.Asp236Glu)
22g.19764200C>TCA513361174TBX1c.111C>T (p.Asp37=)
c.585C>T (p.Asp195=)
c.558C>T (p.Asp186=)
c.708C>T (p.Asp236=)
22g.19764201C>ACA410682730TBX1c.112C>A (p.Pro38Thr)
c.586C>A (p.Pro196Thr)
c.559C>A (p.Pro187Thr)
c.709C>A (p.Pro237Thr)
22g.19764201C=CA2396031057TBX1c.112C= (p.Pro38=)
c.586C= (p.Pro196=)
c.559C= (p.Pro187=)
c.709C= (p.Pro237=)
22g.19764201C>GCA10102497TBX1c.112C>G (p.Pro38Ala)
c.586C>G (p.Pro196Ala)
c.559C>G (p.Pro187Ala)
c.709C>G (p.Pro237Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764201C>TCA410682728TBX1c.112C>T (p.Pro38Ser)
c.586C>T (p.Pro196Ser)
c.559C>T (p.Pro187Ser)
c.709C>T (p.Pro237Ser)
22g.19764202C>ACA410682732TBX1c.113C>A (p.Pro38His)
c.587C>A (p.Pro196His)
c.560C>A (p.Pro187His)
c.710C>A (p.Pro237His)
22g.19764202C>GCA410682734TBX1c.113C>G (p.Pro38Arg)
c.587C>G (p.Pro196Arg)
c.560C>G (p.Pro187Arg)
c.710C>G (p.Pro237Arg)
22g.19764202C>TCA410682736TBX1c.113C>T (p.Pro38Leu)
c.587C>T (p.Pro196Leu)
c.560C>T (p.Pro187Leu)
c.710C>T (p.Pro237Leu)
22g.19764203T>ACA513361176TBX1c.114T>A (p.Pro38=)
c.588T>A (p.Pro196=)
c.561T>A (p.Pro187=)
c.711T>A (p.Pro237=)
22g.19764203T>CCA513361178TBX1c.114T>C (p.Pro38=)
c.588T>C (p.Pro196=)
c.561T>C (p.Pro187=)
c.711T>C (p.Pro237=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.19764203T>GCA513361180TBX1c.114T>G (p.Pro38=)
c.588T>G (p.Pro196=)
c.561T>G (p.Pro187=)
c.711T>G (p.Pro237=)
22g.19764203T=CA2396031058TBX1c.114T= (p.Pro38=)
c.588T= (p.Pro196=)
c.561T= (p.Pro187=)
c.711T= (p.Pro237=)
22g.19764204G>ACA410682738TBX1c.115G>A (p.Ala39Thr)
c.589G>A (p.Ala197Thr)
c.562G>A (p.Ala188Thr)
c.712G>A (p.Ala238Thr)
22g.19764204G>CCA410682739TBX1c.115G>C (p.Ala39Pro)
c.589G>C (p.Ala197Pro)
c.562G>C (p.Ala188Pro)
c.712G>C (p.Ala238Pro)
22g.19764204G>TCA410682741TBX1c.115G>T (p.Ala39Ser)
c.589G>T (p.Ala197Ser)
c.562G>T (p.Ala188Ser)
c.712G>T (p.Ala238Ser)
22g.19764205C>ACA410682743TBX1c.116C>A (p.Ala39Asp)
c.590C>A (p.Ala197Asp)
c.563C>A (p.Ala188Asp)
c.713C>A (p.Ala238Asp)
22g.19764205C>GCA410682744TBX1c.116C>G (p.Ala39Gly)
c.590C>G (p.Ala197Gly)
c.563C>G (p.Ala188Gly)
c.713C>G (p.Ala238Gly)
22g.19764205C>TCA410682746TBX1c.116C>T (p.Ala39Val)
c.590C>T (p.Ala197Val)
c.563C>T (p.Ala188Val)
c.713C>T (p.Ala238Val)
 gnomAD v4
22g.19764206C>ACA513361182TBX1c.117C>A (p.Ala39=)
c.591C>A (p.Ala197=)
c.564C>A (p.Ala188=)
c.714C>A (p.Ala238=)
22g.19764206C=CA2396031059TBX1c.117C= (p.Ala39=)
c.591C= (p.Ala197=)
c.564C= (p.Ala188=)
c.714C= (p.Ala238=)
22g.19764206C>GCA513361184TBX1c.117C>G (p.Ala39=)
c.591C>G (p.Ala197=)
c.564C>G (p.Ala188=)
c.714C>G (p.Ala238=)
22g.19764206C>TCA513361186TBX1c.117C>T (p.Ala39=)
c.591C>T (p.Ala197=)
c.564C>T (p.Ala188=)
c.714C>T (p.Ala238=)
 ClinVar dbSNP
22g.19764207A>CCA410682748TBX1c.118A>C (p.Thr40Pro)
c.592A>C (p.Thr198Pro)
c.565A>C (p.Thr189Pro)
c.715A>C (p.Thr239Pro)
22g.19764207A>GCA410682750TBX1c.118A>G (p.Thr40Ala)
c.592A>G (p.Thr198Ala)
c.565A>G (p.Thr189Ala)
c.715A>G (p.Thr239Ala)
22g.19764207A>TCA410682752TBX1c.118A>T (p.Thr40Ser)
c.592A>T (p.Thr198Ser)
c.565A>T (p.Thr189Ser)
c.715A>T (p.Thr239Ser)
22g.19764208C>ACA410682754TBX1c.119C>A (p.Thr40Lys)
c.593C>A (p.Thr198Lys)
c.566C>A (p.Thr189Lys)
c.716C>A (p.Thr239Lys)
22g.19764208C>GCA410682758TBX1c.119C>G (p.Thr40Arg)
c.593C>G (p.Thr198Arg)
c.566C>G (p.Thr189Arg)
c.716C>G (p.Thr239Arg)
22g.19764208C>TCA410682756TBX1c.119C>T (p.Thr40Met)
c.593C>T (p.Thr198Met)
c.566C>T (p.Thr189Met)
c.716C>T (p.Thr239Met)
 gnomAD v4
22g.19764209G>ACA10102498TBX1c.120G>A (p.Thr40=)
c.594G>A (p.Thr198=)
c.567G>A (p.Thr189=)
c.717G>A (p.Thr239=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764209G>CCA513361187TBX1c.120G>C (p.Thr40=)
c.594G>C (p.Thr198=)
c.567G>C (p.Thr189=)
c.717G>C (p.Thr239=)
22g.19764209G=CA2396031060TBX1c.120G= (p.Thr40=)
c.594G= (p.Thr198=)
c.567G= (p.Thr189=)
c.717G= (p.Thr239=)
22g.19764209G>TCA513361188TBX1c.120G>T (p.Thr40=)
c.594G>T (p.Thr198=)
c.567G>T (p.Thr189=)
c.717G>T (p.Thr239=)
 dbSNP gnomAD v3 gnomAD v4
22g.19764210C>ACA410682763TBX1c.121C>A (p.Pro41Thr)
c.595C>A (p.Pro199Thr)
c.568C>A (p.Pro190Thr)
c.718C>A (p.Pro240Thr)
22g.19764210C>GCA410682760TBX1c.121C>G (p.Pro41Ala)
c.595C>G (p.Pro199Ala)
c.568C>G (p.Pro190Ala)
c.718C>G (p.Pro240Ala)
22g.19764210C>TCA410682761TBX1c.121C>T (p.Pro41Ser)
c.595C>T (p.Pro199Ser)
c.568C>T (p.Pro190Ser)
c.718C>T (p.Pro240Ser)
 ClinVar
22g.19764211C>ACA410682766TBX1c.122C>A (p.Pro41Gln)
c.596C>A (p.Pro199Gln)
c.569C>A (p.Pro190Gln)
c.719C>A (p.Pro240Gln)
22g.19764211C>GCA410682767TBX1c.122C>G (p.Pro41Arg)
c.596C>G (p.Pro199Arg)
c.569C>G (p.Pro190Arg)
c.719C>G (p.Pro240Arg)
22g.19764211C>TCA410682768TBX1c.122C>T (p.Pro41Leu)
c.596C>T (p.Pro199Leu)
c.569C>T (p.Pro190Leu)
c.719C>T (p.Pro240Leu)
22g.19764212A>CCA513361190TBX1c.123A>C (p.Pro41=)
c.597A>C (p.Pro199=)
c.570A>C (p.Pro190=)
c.720A>C (p.Pro240=)
22g.19764212A>GCA513361191TBX1c.123A>G (p.Pro41=)
c.597A>G (p.Pro199=)
c.570A>G (p.Pro190=)
c.720A>G (p.Pro240=)
 gnomAD v4
22g.19764212A>TCA513361192TBX1c.123A>T (p.Pro41=)
c.597A>T (p.Pro199=)
c.570A>T (p.Pro190=)
c.720A>T (p.Pro240=)
 gnomAD v4
22g.19764213G>ACA10102499TBX1c.124G>A (p.Gly42Ser)
c.598G>A (p.Gly200Ser)
c.571G>A (p.Gly191Ser)
c.721G>A (p.Gly241Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.19764213G>CCA410682771TBX1c.124G>C (p.Gly42Arg)
c.598G>C (p.Gly200Arg)
c.571G>C (p.Gly191Arg)
c.721G>C (p.Gly241Arg)
22g.19764213G=CA2396031061TBX1c.124G= (p.Gly42=)
c.598G= (p.Gly200=)
c.571G= (p.Gly191=)
c.721G= (p.Gly241=)
22g.19764213G>TCA410682772TBX1c.124G>T (p.Gly42Cys)
c.598G>T (p.Gly200Cys)
c.571G>T (p.Gly191Cys)
c.721G>T (p.Gly241Cys)
22g.19764214G>ACA410682773TBX1c.125G>A (p.Gly42Asp)
c.599G>A (p.Gly200Asp)
c.572G>A (p.Gly191Asp)
c.722G>A (p.Gly241Asp)
 dbSNP
22g.19764214G>CCA410682776TBX1c.125G>C (p.Gly42Ala)
c.599G>C (p.Gly200Ala)
c.572G>C (p.Gly191Ala)
c.722G>C (p.Gly241Ala)
22g.19764214G>TCA410682778TBX1c.125G>T (p.Gly42Val)
c.599G>T (p.Gly200Val)
c.572G>T (p.Gly191Val)
c.722G>T (p.Gly241Val)
22g.19764214_19764215delCA2655308572TBX1c.125_126del (p.Gly42AlafsTer?)
c.599_600del (p.Gly200AlafsTer?)
c.572_573del (p.Gly191AlafsTer?)
c.722_723del (p.Gly241AlafsTer?)
 gnomAD v4
22g.19764215C>ACA513361193TBX1c.126C>A (p.Gly42=)
c.600C>A (p.Gly200=)
c.573C>A (p.Gly191=)
c.723C>A (p.Gly241=)
 dbSNP gnomAD v2 gnomAD v4
22g.19764215C=CA2396031062TBX1c.126C= (p.Gly42=)
c.600C= (p.Gly200=)
c.573C= (p.Gly191=)
c.723C= (p.Gly241=)
22g.19764215C>GCA513361194TBX1c.126C>G (p.Gly42=)
c.600C>G (p.Gly200=)
c.573C>G (p.Gly191=)
c.723C>G (p.Gly241=)
22g.19764215C>TCA513361195TBX1c.126C>T (p.Gly42=)
c.600C>T (p.Gly200=)
c.573C>T (p.Gly191=)
c.723C>T (p.Gly241=)
 dbSNP
22g.19764216C>ACA410682784TBX1c.127C>A (p.Arg43Ser)
c.601C>A (p.Arg201Ser)
c.574C>A (p.Arg192Ser)
c.724C>A (p.Arg242Ser)
22g.19764216C>GCA410682782TBX1c.127C>G (p.Arg43Gly)
c.601C>G (p.Arg201Gly)
c.574C>G (p.Arg192Gly)
c.724C>G (p.Arg242Gly)
22g.19764216C>TCA410682780TBX1c.127C>T (p.Arg43Cys)
c.601C>T (p.Arg201Cys)
c.574C>T (p.Arg192Cys)
c.724C>T (p.Arg242Cys)
 ClinVar gnomAD v4
22g.19764217G>ACA322055638TBX1c.128G>A (p.Arg43His)
c.602G>A (p.Arg201His)
c.575G>A (p.Arg192His)
c.725G>A (p.Arg242His)
 dbSNP gnomAD v4
22g.19764217G>CCA410682786TBX1c.128G>C (p.Arg43Pro)
c.602G>C (p.Arg201Pro)
c.575G>C (p.Arg192Pro)
c.725G>C (p.Arg242Pro)
22g.19764217G=CA2396031063TBX1c.128G= (p.Arg43=)
c.602G= (p.Arg201=)
c.575G= (p.Arg192=)
c.725G= (p.Arg242=)
22g.19764217G>TCA410682788TBX1c.128G>T (p.Arg43Leu)
c.602G>T (p.Arg201Leu)
c.575G>T (p.Arg192Leu)
c.725G>T (p.Arg242Leu)
22g.19764218C>ACA513361196TBX1c.129C>A (p.Arg43=)
c.603C>A (p.Arg201=)
c.576C>A (p.Arg192=)
c.726C>A (p.Arg242=)
22g.19764218C=CA2396031064TBX1c.129C= (p.Arg43=)
c.603C= (p.Arg201=)
c.576C= (p.Arg192=)
c.726C= (p.Arg242=)
22g.19764218C>GCA513361197TBX1c.129C>G (p.Arg43=)
c.603C>G (p.Arg201=)
c.576C>G (p.Arg192=)
c.726C>G (p.Arg242=)
 gnomAD v4
22g.19764218C>TCA10102500TBX1c.129C>T (p.Arg43=)
c.603C>T (p.Arg201=)
c.576C>T (p.Arg192=)
c.726C>T (p.Arg242=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22g.19764219G>ACA10102501TBX1c.130G>A (p.Val44Met)
c.604G>A (p.Val202Met)
c.577G>A (p.Val193Met)
c.727G>A (p.Val243Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
22g.19764219G>CCA410682792TBX1c.130G>C (p.Val44Leu)
c.604G>C (p.Val202Leu)
c.577G>C (p.Val193Leu)
c.727G>C (p.Val243Leu)
 dbSNP
22g.19764219G=CA2396031065TBX1c.130G= (p.Val44=)
c.604G= (p.Val202=)
c.577G= (p.Val193=)
c.727G= (p.Val243=)
22g.19764219G>TCA10102502TBX1c.130G>T (p.Val44Leu)
c.604G>T (p.Val202Leu)
c.577G>T (p.Val193Leu)
c.727G>T (p.Val243Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764220T>ACA410682795TBX1c.131T>A (p.Val44Glu)
c.605T>A (p.Val202Glu)
c.578T>A (p.Val193Glu)
c.728T>A (p.Val243Glu)
22g.19764220T>CCA410682797TBX1c.131T>C (p.Val44Ala)
c.605T>C (p.Val202Ala)
c.578T>C (p.Val193Ala)
c.728T>C (p.Val243Ala)
22g.19764220T>GCA410682799TBX1c.131T>G (p.Val44Gly)
c.605T>G (p.Val202Gly)
c.578T>G (p.Val193Gly)
c.728T>G (p.Val243Gly)
22g.19764221G>ACA10102503TBX1c.132G>A (p.Val44=)
c.606G>A (p.Val202=)
c.579G>A (p.Val193=)
c.729G>A (p.Val243=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.19764221G>CCA513361198TBX1c.132G>C (p.Val44=)
c.606G>C (p.Val202=)
c.579G>C (p.Val193=)
c.729G>C (p.Val243=)
22g.19764221G=CA2396031066TBX1c.132G= (p.Val44=)
c.606G= (p.Val202=)
c.579G= (p.Val193=)
c.729G= (p.Val243=)
22g.19764221G>TCA513361199TBX1c.132G>T (p.Val44=)
c.606G>T (p.Val202=)
c.579G>T (p.Val193=)
c.729G>T (p.Val243=)
22g.19764222C>ACA410682806TBX1c.133C>A (p.His45Asn)
c.607C>A (p.His203Asn)
c.580C>A (p.His194Asn)
c.730C>A (p.His244Asn)
22g.19764222C>GCA410682804TBX1c.133C>G (p.His45Asp)
c.607C>G (p.His203Asp)
c.580C>G (p.His194Asp)
c.730C>G (p.His244Asp)
22g.19764222C>TCA410682802TBX1c.133C>T (p.His45Tyr)
c.607C>T (p.His203Tyr)
c.580C>T (p.His194Tyr)
c.730C>T (p.His244Tyr)
22g.19764223A>CCA410682808TBX1c.134A>C (p.His45Pro)
c.608A>C (p.His203Pro)
c.581A>C (p.His194Pro)
c.731A>C (p.His244Pro)
22g.19764223A>GCA410682810TBX1c.134A>G (p.His45Arg)
c.608A>G (p.His203Arg)
c.581A>G (p.His194Arg)
c.731A>G (p.His244Arg)
 ClinVar
22g.19764223A>TCA410682812TBX1c.134A>T (p.His45Leu)
c.608A>T (p.His203Leu)
c.581A>T (p.His194Leu)
c.731A>T (p.His244Leu)
22g.19764224C>ACA410682814TBX1c.135C>A (p.His45Gln)
c.609C>A (p.His203Gln)
c.582C>A (p.His194Gln)
c.732C>A (p.His244Gln)
22g.19764224C=CA2396031067TBX1c.135C= (p.His45=)
c.609C= (p.His203=)
c.582C= (p.His194=)
c.732C= (p.His244=)
22g.19764224C>GCA254219TBX1c.135C>G (p.His45Gln)
c.609C>G (p.His203Gln)
c.582C>G (p.His194Gln)
c.732C>G (p.His244Gln)
 ClinVar dbSNP
22g.19764224C>TCA513361200TBX1c.135C>T (p.His45=)
c.609C>T (p.His203=)
c.582C>T (p.His194=)
c.732C>T (p.His244=)
 ClinVar gnomAD v4

Number of alleles fetched