Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.114401795G>ACA6809672TBX5c.242+31C>T (n.242+31C>T)
c.92+31C>T (n.92+31C>T)
n.293+31C>T
c.290+31C>T (n.290+31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114401795G=CA2064654952TBX5c.242+31C= (n.242+31C=)
c.92+31C= (n.92+31C=)
n.293+31C=
c.290+31C= (n.290+31C=)
12g.114401796T>ACA2064654956TBX5c.242+30A>T (n.242+30A>T)
c.92+30A>T (n.92+30A>T)
n.293+30A>T
c.290+30A>T (n.290+30A>T)
 dbSNP
12g.114401796T>GCA2511983488TBX5c.242+30A>C (n.242+30A>C)
c.92+30A>C (n.92+30A>C)
n.293+30A>C
c.290+30A>C (n.290+30A>C)
12g.114401796T=CA2064654954TBX5c.242+30A= (n.242+30A=)
c.92+30A= (n.92+30A=)
n.293+30A=
c.290+30A= (n.290+30A=)
12g.114401797_114401798insGACA2509833223TBX5c.242+28_242+29insTC (n.242+28_242+29insTC)
c.92+28_92+29insTC (n.92+28_92+29insTC)
n.293+28_293+29insTC
c.290+28_290+29insTC (n.290+28_290+29insTC)
12g.114401798C>ACA244130365TBX5c.242+28G>T (n.242+28G>T)
c.92+28G>T (n.92+28G>T)
n.293+28G>T
c.290+28G>T (n.290+28G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114401798C=CA2064654960TBX5c.242+28G= (n.242+28G=)
c.92+28G= (n.92+28G=)
n.293+28G=
c.290+28G= (n.290+28G=)
12g.114401798C>TCA244130370TBX5c.242+28G>A (n.242+28G>A)
c.92+28G>A (n.92+28G>A)
n.293+28G>A
c.290+28G>A (n.290+28G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114401799C=CA2064654967TBX5c.242+27G= (n.242+27G=)
c.92+27G= (n.92+27G=)
n.293+27G=
c.290+27G= (n.290+27G=)
12g.114401799C>GCA2621125699TBX5c.242+27G>C (n.242+27G>C)
c.92+27G>C (n.92+27G>C)
n.293+27G>C
c.290+27G>C (n.290+27G>C)
 gnomAD v4
12g.114401799C>TCA6809673TBX5c.242+27G>A (n.242+27G>A)
c.92+27G>A (n.92+27G>A)
n.293+27G>A
c.290+27G>A (n.290+27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114401800T>ACA2529725713TBX5c.242+26A>T (n.242+26A>T)
c.92+26A>T (n.92+26A>T)
n.293+26A>T
c.290+26A>T (n.290+26A>T)
12g.114401801C>GCA2621125700TBX5c.242+25G>C (n.242+25G>C)
c.92+25G>C (n.92+25G>C)
n.293+25G>C
c.290+25G>C (n.290+25G>C)
 gnomAD v4
12g.114401802delCA2534958728TBX5c.242+24del (n.242+24del)
c.92+24del (n.92+24del)
n.293+24del
c.290+24del (n.290+24del)
12g.114401802T>ACA2621125701TBX5c.242+24A>T (n.242+24A>T)
c.92+24A>T (n.92+24A>T)
n.293+24A>T
c.290+24A>T (n.290+24A>T)
 gnomAD v4
12g.114401802T>CCA607646450TBX5c.242+24A>G (n.242+24A>G)
c.92+24A>G (n.92+24A>G)
n.293+24A>G
c.290+24A>G (n.290+24A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114401802T=CA2064654970TBX5c.242+24A= (n.242+24A=)
c.92+24A= (n.92+24A=)
n.293+24A=
c.290+24A= (n.290+24A=)
12g.114401803C>GCA2621125705TBX5c.242+23G>C (n.242+23G>C)
c.92+23G>C (n.92+23G>C)
n.293+23G>C
c.290+23G>C (n.290+23G>C)
 gnomAD v4
12g.114401803C>TCA2621125707TBX5c.242+23G>A (n.242+23G>A)
c.92+23G>A (n.92+23G>A)
n.293+23G>A
c.290+23G>A (n.290+23G>A)
 gnomAD v4
12g.114401803_114401804insGAGACA2554496055TBX5c.242+22_242+23insTCTC (n.242+22_242+23insTCTC)
c.92+22_92+23insTCTC (n.92+22_92+23insTCTC)
n.293+22_293+23insTCTC
c.290+22_290+23insTCTC (n.290+22_290+23insTCTC)
12g.114401804T>ACA2797549346TBX5c.242+22A>T (n.242+22A>T)
c.92+22A>T (n.92+22A>T)
n.293+22A>T
c.290+22A>T (n.290+22A>T)
12g.114401804T>CCA2621125708TBX5c.242+22A>G (n.242+22A>G)
c.92+22A>G (n.92+22A>G)
n.293+22A>G
c.290+22A>G (n.290+22A>G)
 gnomAD v4
12g.114401805C>TCA2621125710TBX5c.242+21G>A (n.242+21G>A)
c.92+21G>A (n.92+21G>A)
n.293+21G>A
c.290+21G>A (n.290+21G>A)
 gnomAD v4
12g.114401807A=CA2064654972TBX5c.242+19T= (n.242+19T=)
c.92+19T= (n.92+19T=)
n.293+19T=
c.290+19T= (n.290+19T=)
12g.114401807A>GCA683865142TBX5c.242+19T>C (n.242+19T>C)
c.92+19T>C (n.92+19T>C)
n.293+19T>C
c.290+19T>C (n.290+19T>C)
 dbSNP
12g.114401808C>TCA2621125711TBX5c.242+18G>A (n.242+18G>A)
c.92+18G>A (n.92+18G>A)
n.293+18G>A
c.290+18G>A (n.290+18G>A)
 ClinVar gnomAD v4
12g.114401809A=CA2064654976TBX5c.242+17T= (n.242+17T=)
c.92+17T= (n.92+17T=)
n.293+17T=
c.290+17T= (n.290+17T=)
12g.114401809A>GCA6809674TBX5c.242+17T>C (n.242+17T>C)
c.92+17T>C (n.92+17T>C)
n.293+17T>C
c.290+17T>C (n.290+17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114401810C>ACA2575306054TBX5c.242+16G>T (n.242+16G>T)
c.92+16G>T (n.92+16G>T)
n.293+16G>T
c.290+16G>T (n.290+16G>T)
12g.114401810C>TCA2621125714TBX5c.242+16G>A (n.242+16G>A)
c.92+16G>A (n.92+16G>A)
n.293+16G>A
c.290+16G>A (n.290+16G>A)
 gnomAD v4
12g.114401811A=CA2064654983TBX5c.242+15T= (n.242+15T=)
c.92+15T= (n.92+15T=)
n.293+15T=
c.290+15T= (n.290+15T=)
12g.114401811A>GCA952073236TBX5c.242+15T>C (n.242+15T>C)
c.92+15T>C (n.92+15T>C)
n.293+15T>C
c.290+15T>C (n.290+15T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.114401813C>ACA607646451TBX5c.242+13G>T (n.242+13G>T)
c.92+13G>T (n.92+13G>T)
n.293+13G>T
c.290+13G>T (n.290+13G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.114401813C=CA2064654984TBX5c.242+13G= (n.242+13G=)
c.92+13G= (n.92+13G=)
n.293+13G=
c.290+13G= (n.290+13G=)
12g.114401813C>TCA2621125716TBX5c.242+13G>A (n.242+13G>A)
c.92+13G>A (n.92+13G>A)
n.293+13G>A
c.290+13G>A (n.290+13G>A)
 gnomAD v4
12g.114401814A>TCA2727282004TBX5c.242+12T>A (n.242+12T>A)
c.92+12T>A (n.92+12T>A)
n.293+12T>A
c.290+12T>A (n.290+12T>A)
 dbSNP
12g.114401816dupCA683865148TBX5c.242+12dup (n.242+12dup)
c.92+12dup (n.92+12dup)
n.293+12dup
c.290+12dup (n.290+12dup)
 dbSNP
12g.114401816A=CA2064654989TBX5c.242+10T= (n.242+10T=)
c.92+10T= (n.92+10T=)
n.293+10T=
c.290+10T= (n.290+10T=)
12g.114401816A>CCA2064654991TBX5c.242+10T>G (n.242+10T>G)
c.92+10T>G (n.92+10T>G)
n.293+10T>G
c.290+10T>G (n.290+10T>G)
 dbSNP
12g.114401816A>GCA2064654993TBX5c.242+10T>C (n.242+10T>C)
c.92+10T>C (n.92+10T>C)
n.293+10T>C
c.290+10T>C (n.290+10T>C)
 dbSNP gnomAD v4
12g.114401817C>ACA6809675TBX5c.242+9G>T (n.242+9G>T)
c.92+9G>T (n.92+9G>T)
n.293+9G>T
c.290+9G>T (n.290+9G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114401817C=CA2064655000TBX5c.242+9G= (n.242+9G=)
c.92+9G= (n.92+9G=)
n.293+9G=
c.290+9G= (n.290+9G=)
12g.114401817C>TCA952073247TBX5c.242+9G>A (n.242+9G>A)
c.92+9G>A (n.92+9G>A)
n.293+9G>A
c.290+9G>A (n.290+9G>A)
 dbSNP gnomAD v4
12g.114401818C>ACA2727282243TBX5c.242+8G>T (n.242+8G>T)
c.92+8G>T (n.92+8G>T)
n.293+8G>T
c.290+8G>T (n.290+8G>T)
 dbSNP
12g.114401819A=CA2064655005TBX5c.242+7T= (n.242+7T=)
c.92+7T= (n.92+7T=)
n.293+7T=
c.290+7T= (n.290+7T=)
12g.114401819A>GCA607646454TBX5c.242+7T>C (n.242+7T>C)
c.92+7T>C (n.92+7T>C)
n.293+7T>C
c.290+7T>C (n.290+7T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114401820T>CCA2575306056TBX5c.242+6A>G (n.242+6A>G)
c.92+6A>G (n.92+6A>G)
n.293+6A>G
c.290+6A>G (n.290+6A>G)
12g.114401820T>GCA6809676TBX5c.242+6A>C (n.242+6A>C)
c.92+6A>C (n.92+6A>C)
n.293+6A>C
c.290+6A>C (n.290+6A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114401820T=CA2064655009TBX5c.242+6A= (n.242+6A=)
c.92+6A= (n.92+6A=)
n.293+6A=
c.290+6A= (n.290+6A=)
12g.114401821C>ACA322325TBX5c.242+5G>T (n.242+5G>T)
c.92+5G>T (n.92+5G>T)
n.293+5G>T
c.290+5G>T (n.290+5G>T)
 dbSNP
12g.114401821C=CA2064655016TBX5c.242+5G= (n.242+5G=)
c.92+5G= (n.92+5G=)
n.293+5G=
c.290+5G= (n.290+5G=)
12g.114401821C>TCA913191206TBX5c.242+5G>A (n.242+5G>A)
c.92+5G>A (n.92+5G>A)
n.293+5G>A
c.290+5G>A (n.290+5G>A)
 ClinVar dbSNP
12g.114401822T>CCA10606296TBX5c.242+4A>G (n.242+4A>G)
c.92+4A>G (n.92+4A>G)
n.293+4A>G
c.290+4A>G (n.290+4A>G)
 ClinVar dbSNP
12g.114401822T=CA2064655020TBX5c.242+4A= (n.242+4A=)
c.92+4A= (n.92+4A=)
n.293+4A=
c.290+4A= (n.290+4A=)
12g.114401823C=CA2064655025TBX5c.242+3G= (n.242+3G=)
c.92+3G= (n.92+3G=)
n.293+3G=
c.290+3G= (n.290+3G=)
12g.114401823C>TCA607646457TBX5c.242+3G>A (n.242+3G>A)
c.92+3G>A (n.92+3G>A)
n.293+3G>A
c.290+3G>A (n.290+3G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.114401824A=CA2064655027TBX5c.242+2T= (n.242+2T=)
c.92+2T= (n.92+2T=)
n.293+2T=
c.290+2T= (n.290+2T=)
12g.114401824A>CCA386862951TBX5c.242+2T>G (n.242+2T>G)
c.92+2T>G (n.92+2T>G)
n.293+2T>G
c.290+2T>G (n.290+2T>G)
 dbSNP
12g.114401824A>GCA386862952TBX5c.242+2T>C (n.242+2T>C)
c.92+2T>C (n.92+2T>C)
n.293+2T>C
c.290+2T>C (n.290+2T>C)
12g.114401824A>TCA386862953TBX5c.242+2T>A (n.242+2T>A)
c.92+2T>A (n.92+2T>A)
n.293+2T>A
c.290+2T>A (n.290+2T>A)
12g.114401825C>ACA386862955TBX5c.242+1G>T (n.242+1G>T)
c.92+1G>T (n.92+1G>T)
n.293+1G>T
c.290+1G>T (n.290+1G>T)
12g.114401825C>GCA386862956TBX5c.242+1G>C (n.242+1G>C)
c.92+1G>C (n.92+1G>C)
n.293+1G>C
c.290+1G>C (n.290+1G>C)
12g.114401825C>TCA386862954TBX5c.242+1G>A (n.242+1G>A)
c.92+1G>A (n.92+1G>A)
n.293+1G>A
c.290+1G>A (n.290+1G>A)
 ClinVar dbSNP
12g.114401826C>ACA386862957TBX5c.242G>T (p.Arg81Met)
c.92G>T (p.Arg31Met)
n.293G>T
c.290G>T (p.Arg97Met)
 ClinVar
12g.114401826C>GCA386862958TBX5c.242G>C (p.Arg81Thr)
c.92G>C (p.Arg31Thr)
n.293G>C
c.290G>C (p.Arg97Thr)
12g.114401826C>TCA386862959TBX5c.242G>A (p.Arg81Lys)
c.92G>A (p.Arg31Lys)
n.293G>A
c.290G>A (p.Arg97Lys)
 ClinVar
12g.114401827T>ACA386862960TBX5c.241A>T (p.Arg81Trp)
c.91A>T (p.Arg31Trp)
n.292A>T
c.289A>T (p.Arg97Trp)
12g.114401827T>CCA386862961TBX5c.241A>G (p.Arg81Gly)
c.91A>G (p.Arg31Gly)
n.292A>G
c.289A>G (p.Arg97Gly)
12g.114401827T>GCA481920781TBX5c.241A>C (p.Arg81=)
c.91A>C (p.Arg31=)
n.292A>C
c.289A>C (p.Arg97=)
12g.114401828T>ACA481920782TBX5c.240A>T (p.Gly80=)
c.90A>T (p.Gly30=)
n.291A>T
c.288A>T (p.Gly96=)
12g.114401828T>CCA481920783TBX5c.240A>G (p.Gly80=)
c.90A>G (p.Gly30=)
n.291A>G
c.288A>G (p.Gly96=)
12g.114401828T>GCA481920784TBX5c.240A>C (p.Gly80=)
c.90A>C (p.Gly30=)
n.291A>C
c.288A>C (p.Gly96=)
12g.114401828_114401830delinsTCCCA2064655034TBX5c.238_240delinsGGA (p.Gly80=)
c.88_90delinsGGA (p.Gly30=)
n.289_291delinsGGA
c.286_288delinsGGA (p.Gly96=)
12g.114401829C>ACA386862964TBX5c.239G>T (p.Gly80Val)
c.89G>T (p.Gly30Val)
n.290G>T
c.287G>T (p.Gly96Val)
12g.114401829C=CA2064655046TBX5c.239G= (p.Gly80=)
c.89G= (p.Gly30=)
n.290G=
c.287G= (p.Gly96=)
12g.114401829C>GCA386862963TBX5c.239G>C (p.Gly80Ala)
c.89G>C (p.Gly30Ala)
n.290G>C
c.287G>C (p.Gly96Ala)
12g.114401829C>TCA386862962TBX5c.239G>A (p.Gly80Glu)
c.89G>A (p.Gly30Glu)
n.290G>A
c.287G>A (p.Gly96Glu)
 ClinVar dbSNP
12g.114401829_114401830delinsACA1139662893TBX5c.238_239delinsT (p.Gly80Ter)
c.88_89delinsT (p.Gly30Ter)
n.289_290delinsT
c.286_287delinsT (p.Gly96Ter)
 ClinVar dbSNP
12g.114401830C>ACA386862965TBX5c.238G>T (p.Gly80Ter)
c.88G>T (p.Gly30Ter)
n.289G>T
c.286G>T (p.Gly96Ter)
12g.114401830C=CA2064655060TBX5c.238G= (p.Gly80=)
c.88G= (p.Gly30=)
n.289G=
c.286G= (p.Gly96=)
12g.114401830C>GCA386862966TBX5c.238G>C (p.Gly80Arg)
c.88G>C (p.Gly30Arg)
n.289G>C
c.286G>C (p.Gly96Arg)
12g.114401830C>TCA254300TBX5c.238G>A (p.Gly80Arg)
c.88G>A (p.Gly30Arg)
n.289G>A
c.286G>A (p.Gly96Arg)
 ClinVar dbSNP
12g.114401831A>CCA481920785TBX5c.237T>G (p.Ala79=)
c.87T>G (p.Ala29=)
n.288T>G
c.285T>G (p.Ala95=)
12g.114401831A>GCA481920786TBX5c.237T>C (p.Ala79=)
c.87T>C (p.Ala29=)
n.288T>C
c.285T>C (p.Ala95=)
12g.114401831A>TCA481920787TBX5c.237T>A (p.Ala79=)
c.87T>A (p.Ala29=)
n.288T>A
c.285T>A (p.Ala95=)
12g.114401832G>ACA6809677TBX5c.236C>T (p.Ala79Val)
c.86C>T (p.Ala29Val)
n.287C>T
c.284C>T (p.Ala95Val)
 dbSNP ExAC gnomAD v4
12g.114401832G>CCA386862967TBX5c.236C>G (p.Ala79Gly)
c.86C>G (p.Ala29Gly)
n.287C>G
c.284C>G (p.Ala95Gly)
12g.114401832G=CA2064655068TBX5c.236C= (p.Ala79=)
c.86C= (p.Ala29=)
n.287C=
c.284C= (p.Ala95=)
12g.114401832G>TCA386862968TBX5c.236C>A (p.Ala79Asp)
c.86C>A (p.Ala29Asp)
n.287C>A
c.284C>A (p.Ala95Asp)
12g.114401833C>ACA386862969TBX5c.235G>T (p.Ala79Ser)
c.85G>T (p.Ala29Ser)
n.286G>T
c.283G>T (p.Ala95Ser)
12g.114401833C=CA2064655075TBX5c.235G= (p.Ala79=)
c.85G= (p.Ala29=)
n.286G=
c.283G= (p.Ala95=)
12g.114401833C>GCA386862971TBX5c.235G>C (p.Ala79Pro)
c.85G>C (p.Ala29Pro)
n.286G>C
c.283G>C (p.Ala95Pro)
 dbSNP
12g.114401833C>TCA386862970TBX5c.235G>A (p.Ala79Thr)
c.85G>A (p.Ala29Thr)
n.286G>A
c.283G>A (p.Ala95Thr)
 gnomAD v4
12g.114401834C>ACA386862972TBX5c.234G>T (p.Lys78Asn)
c.84G>T (p.Lys28Asn)
n.285G>T
c.282G>T (p.Lys94Asn)
12g.114401834C=CA2064655081TBX5c.234G= (p.Lys78=)
c.84G= (p.Lys28=)
n.285G=
c.282G= (p.Lys94=)
12g.114401834C>GCA386862973TBX5c.234G>C (p.Lys78Asn)
c.84G>C (p.Lys28Asn)
n.285G>C
c.282G>C (p.Lys94Asn)
12g.114401834C>TCA6809678TBX5c.234G>A (p.Lys78=)
c.84G>A (p.Lys28=)
n.285G>A
c.282G>A (p.Lys94=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114401835T>ACA386862974TBX5c.233A>T (p.Lys78Met)
c.83A>T (p.Lys28Met)
n.284A>T
c.281A>T (p.Lys94Met)
12g.114401835T>CCA386862975TBX5c.233A>G (p.Lys78Arg)
c.83A>G (p.Lys28Arg)
n.284A>G
c.281A>G (p.Lys94Arg)
12g.114401835T>GCA386862976TBX5c.233A>C (p.Lys78Thr)
c.83A>C (p.Lys28Thr)
n.284A>C
c.281A>C (p.Lys94Thr)
12g.114401836T>ACA386862977TBX5c.232A>T (p.Lys78Ter)
c.82A>T (p.Lys28Ter)
n.283A>T
c.280A>T (p.Lys94Ter)
12g.114401836T>CCA386862978TBX5c.232A>G (p.Lys78Glu)
c.82A>G (p.Lys28Glu)
n.283A>G
c.280A>G (p.Lys94Glu)
12g.114401836T>GCA386862979TBX5c.232A>C (p.Lys78Gln)
c.82A>C (p.Lys28Gln)
n.283A>C
c.280A>C (p.Lys94Gln)
12g.114401837G>ACA481920788TBX5c.231C>T (p.Thr77=)
c.81C>T (p.Thr27=)
n.282C>T
c.279C>T (p.Thr93=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.114401837G>CCA481920789TBX5c.231C>G (p.Thr77=)
c.81C>G (p.Thr27=)
n.282C>G
c.279C>G (p.Thr93=)
12g.114401837G=CA2064655088TBX5c.231C= (p.Thr77=)
c.81C= (p.Thr27=)
n.282C=
c.279C= (p.Thr93=)
12g.114401837G>TCA481920790TBX5c.231C>A (p.Thr77=)
c.81C>A (p.Thr27=)
n.282C>A
c.279C>A (p.Thr93=)
12g.114401838G>ACA386862980TBX5c.230C>T (p.Thr77Ile)
c.80C>T (p.Thr27Ile)
n.281C>T
c.278C>T (p.Thr93Ile)
12g.114401838G>CCA386862981TBX5c.230C>G (p.Thr77Ser)
c.80C>G (p.Thr27Ser)
n.281C>G
c.278C>G (p.Thr93Ser)
12g.114401838G=CA2064655093TBX5c.230C= (p.Thr77=)
c.80C= (p.Thr27=)
n.281C=
c.278C= (p.Thr93=)
12g.114401838G>TCA386862982TBX5c.230C>A (p.Thr77Asn)
c.80C>A (p.Thr27Asn)
n.281C>A
c.278C>A (p.Thr93Asn)
 dbSNP gnomAD v3 gnomAD v4
12g.114401839T>ACA386862988TBX5c.229A>T (p.Thr77Ser)
c.79A>T (p.Thr27Ser)
n.280A>T
c.277A>T (p.Thr93Ser)
12g.114401839T>CCA386862987TBX5c.229A>G (p.Thr77Ala)
c.79A>G (p.Thr27Ala)
n.280A>G
c.277A>G (p.Thr93Ala)
12g.114401839T>GCA386862985TBX5c.229A>C (p.Thr77Pro)
c.79A>C (p.Thr27Pro)
n.280A>C
c.277A>C (p.Thr93Pro)
12g.114401840T>ACA481920791TBX5c.228A>T (p.Ile76=)
c.78A>T (p.Ile26=)
n.279A>T
c.276A>T (p.Ile92=)
 gnomAD v4
12g.114401840T>CCA386862990TBX5c.228A>G (p.Ile76Met)
c.78A>G (p.Ile26Met)
n.279A>G
c.276A>G (p.Ile92Met)
12g.114401840T>GCA481920792TBX5c.228A>C (p.Ile76=)
c.78A>C (p.Ile26=)
n.279A>C
c.276A>C (p.Ile92=)
12g.114401840_114401841insCCACCTTCTGAGGAACATGCCCCAGAAAGCAACA2797549348TBX5c.227_228insTTGCTTTCTGGGGCATGTTCCTCAGAAGGTGG (p.Thr77CysfsTer24)
c.77_78insTTGCTTTCTGGGGCATGTTCCTCAGAAGGTGG (p.Thr27CysfsTer24)
n.278_279insTTGCTTTCTGGGGCATGTTCCTCAGAAGGTGG
c.275_276insTTGCTTTCTGGGGCATGTTCCTCAGAAGGTGG (p.Thr93CysfsTer24)
12g.114401841A>CCA386862997TBX5c.227T>G (p.Ile76Arg)
c.77T>G (p.Ile26Arg)
n.278T>G
c.275T>G (p.Ile92Arg)
12g.114401841A>GCA386862993TBX5c.227T>C (p.Ile76Thr)
c.77T>C (p.Ile26Thr)
n.278T>C
c.275T>C (p.Ile92Thr)
12g.114401841A>TCA386862995TBX5c.227T>A (p.Ile76Lys)
c.77T>A (p.Ile26Lys)
n.278T>A
c.275T>A (p.Ile92Lys)
12g.114401842T>ACA386862999TBX5c.226A>T (p.Ile76Leu)
c.76A>T (p.Ile26Leu)
n.277A>T
c.274A>T (p.Ile92Leu)
12g.114401842T>CCA386863000TBX5c.226A>G (p.Ile76Val)
c.76A>G (p.Ile26Val)
n.277A>G
c.274A>G (p.Ile92Val)
 gnomAD v4
12g.114401842T>GCA386863002TBX5c.226A>C (p.Ile76Leu)
c.76A>C (p.Ile26Leu)
n.277A>C
c.274A>C (p.Ile92Leu)
12g.114401843G>ACA481920793TBX5c.225C>T (p.Ile75=)
c.75C>T (p.Ile25=)
n.276C>T
c.273C>T (p.Ile91=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.114401843G>CCA386863004TBX5c.225C>G (p.Ile75Met)
c.75C>G (p.Ile25Met)
n.276C>G
c.273C>G (p.Ile91Met)
12g.114401843G=CA2064655095TBX5c.225C= (p.Ile75=)
c.75C= (p.Ile25=)
n.276C=
c.273C= (p.Ile91=)
12g.114401843G>TCA481920794TBX5c.225C>A (p.Ile75=)
c.75C>A (p.Ile25=)
n.276C>A
c.273C>A (p.Ile91=)
 gnomAD v4
12g.114401844A>CCA386863010TBX5c.224T>G (p.Ile75Ser)
c.74T>G (p.Ile25Ser)
n.275T>G
c.272T>G (p.Ile91Ser)
12g.114401844A>GCA386863008TBX5c.224T>C (p.Ile75Thr)
c.74T>C (p.Ile25Thr)
n.275T>C
c.272T>C (p.Ile91Thr)
12g.114401844A>TCA386863007TBX5c.224T>A (p.Ile75Asn)
c.74T>A (p.Ile25Asn)
n.275T>A
c.272T>A (p.Ile91Asn)
 gnomAD v4
12g.114401845T>ACA386863012TBX5c.223A>T (p.Ile75Phe)
c.73A>T (p.Ile25Phe)
n.274A>T
c.271A>T (p.Ile91Phe)
12g.114401845T>CCA386863014TBX5c.223A>G (p.Ile75Val)
c.73A>G (p.Ile25Val)
n.274A>G
c.271A>G (p.Ile91Val)
 gnomAD v4
12g.114401845T>GCA386863016TBX5c.223A>C (p.Ile75Leu)
c.73A>C (p.Ile25Leu)
n.274A>C
c.271A>C (p.Ile91Leu)
12g.114401846C>ACA386863018TBX5c.222G>T (p.Met74Ile)
c.72G>T (p.Met24Ile)
n.273G>T
c.270G>T (p.Met90Ile)
12g.114401846C>GCA386863020TBX5c.222G>C (p.Met74Ile)
c.72G>C (p.Met24Ile)
n.273G>C
c.270G>C (p.Met90Ile)
12g.114401846C>TCA386863022TBX5c.222G>A (p.Met74Ile)
c.72G>A (p.Met24Ile)
n.273G>A
c.270G>A (p.Met90Ile)
12g.114401847A=CA2064655100TBX5c.221T= (p.Met74=)
c.71T= (p.Met24=)
n.272T=
c.269T= (p.Met90=)
12g.114401847A>CCA386863025TBX5c.221T>G (p.Met74Arg)
c.71T>G (p.Met24Arg)
n.272T>G
c.269T>G (p.Met90Arg)
12g.114401847A>GCA386863028TBX5c.221T>C (p.Met74Thr)
c.71T>C (p.Met24Thr)
n.272T>C
c.269T>C (p.Met90Thr)
12g.114401847A>TCA386863027TBX5c.221T>A (p.Met74Lys)
c.71T>A (p.Met24Lys)
n.272T>A
c.269T>A (p.Met90Lys)
12g.114401848T>ACA386863030TBX5c.220A>T (p.Met74Leu)
c.70A>T (p.Met24Leu)
n.271A>T
c.268A>T (p.Met90Leu)
12g.114401848T>CCA319986TBX5c.220A>G (p.Met74Val)
c.70A>G (p.Met24Val)
n.271A>G
c.268A>G (p.Met90Val)
 dbSNP
12g.114401848T>GCA386863033TBX5c.220A>C (p.Met74Leu)
c.70A>C (p.Met24Leu)
n.271A>C
c.268A>C (p.Met90Leu)
12g.114401848T=CA2064655102TBX5c.220A= (p.Met74=)
c.70A= (p.Met24=)
n.271A=
c.268A= (p.Met90=)
12g.114401850dupCA244130400TBX5c.220dup (p.Met74AsnfsTer22)
c.70dup (p.Met24AsnfsTer22)
n.271dup
c.268dup (p.Met90AsnfsTer22)
 dbSNP
12g.114401849T>ACA386863035TBX5c.219A>T (p.Glu73Asp)
c.69A>T (p.Glu23Asp)
n.270A>T
c.267A>T (p.Glu89Asp)
12g.114401849T>CCA481920795TBX5c.219A>G (p.Glu73=)
c.69A>G (p.Glu23=)
n.270A>G
c.267A>G (p.Glu89=)
12g.114401849T>GCA386863037TBX5c.219A>C (p.Glu73Asp)
c.69A>C (p.Glu23Asp)
n.270A>C
c.267A>C (p.Glu89Asp)
12g.114401850T>ACA386863039TBX5c.218A>T (p.Glu73Val)
c.68A>T (p.Glu23Val)
n.269A>T
c.266A>T (p.Glu89Val)
12g.114401850T>CCA386863040TBX5c.218A>G (p.Glu73Gly)
c.68A>G (p.Glu23Gly)
n.269A>G
c.266A>G (p.Glu89Gly)
12g.114401850T>GCA386863043TBX5c.218A>C (p.Glu73Ala)
c.68A>C (p.Glu23Ala)
n.269A>C
c.266A>C (p.Glu89Ala)
12g.114401851C>ACA386863045TBX5c.217G>T (p.Glu73Ter)
c.67G>T (p.Glu23Ter)
n.268G>T
c.265G>T (p.Glu89Ter)
12g.114401851C>GCA386863046TBX5c.217G>C (p.Glu73Gln)
c.67G>C (p.Glu23Gln)
n.268G>C
c.265G>C (p.Glu89Gln)
 ClinVar
12g.114401851C>TCA386863048TBX5c.217G>A (p.Glu73Lys)
c.67G>A (p.Glu23Lys)
n.268G>A
c.265G>A (p.Glu89Lys)
12g.114401852C>ACA481920796TBX5c.216G>T (p.Thr72=)
c.66G>T (p.Thr22=)
n.267G>T
c.264G>T (p.Thr88=)
 dbSNP
12g.114401852C=CA2064655106TBX5c.216G= (p.Thr72=)
c.66G= (p.Thr22=)
n.267G=
c.264G= (p.Thr88=)
12g.114401852C>GCA481920797TBX5c.216G>C (p.Thr72=)
c.66G>C (p.Thr22=)
n.267G>C
c.264G>C (p.Thr88=)
12g.114401852C>TCA6809679TBX5c.216G>A (p.Thr72=)
c.66G>A (p.Thr22=)
n.267G>A
c.264G>A (p.Thr88=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114401853G>ACA386863055TBX5c.215C>T (p.Thr72Met)
c.65C>T (p.Thr22Met)
n.266C>T
c.263C>T (p.Thr88Met)
 dbSNP gnomAD v4
12g.114401853G>CCA386863052TBX5c.215C>G (p.Thr72Arg)
c.65C>G (p.Thr22Arg)
n.266C>G
c.263C>G (p.Thr88Arg)
12g.114401853G=CA2064655111TBX5c.215C= (p.Thr72=)
c.65C= (p.Thr22=)
n.266C=
c.263C= (p.Thr88=)
12g.114401853G>TCA323403TBX5c.215C>A (p.Thr72Lys)
c.65C>A (p.Thr22Lys)
n.266C>A
c.263C>A (p.Thr88Lys)
 dbSNP
12g.114401854T>ACA386863057TBX5c.214A>T (p.Thr72Ser)
c.64A>T (p.Thr22Ser)
n.265A>T
c.262A>T (p.Thr88Ser)
12g.114401854T>CCA386863061TBX5c.214A>G (p.Thr72Ala)
c.64A>G (p.Thr22Ala)
n.265A>G
c.262A>G (p.Thr88Ala)
12g.114401854T>GCA386863058TBX5c.214A>C (p.Thr72Pro)
c.64A>C (p.Thr22Pro)
n.265A>C
c.262A>C (p.Thr88Pro)
12g.114401855G>ACA481920798TBX5c.213C>T (p.Gly71=)
c.63C>T (p.Gly21=)
n.264C>T
c.261C>T (p.Gly87=)
12g.114401855G>CCA481920799TBX5c.213C>G (p.Gly71=)
c.63C>G (p.Gly21=)
n.264C>G
c.261C>G (p.Gly87=)
12g.114401855G>TCA481920800TBX5c.213C>A (p.Gly71=)
c.63C>A (p.Gly21=)
n.264C>A
c.261C>A (p.Gly87=)
12g.114401856C>ACA386863062TBX5c.212G>T (p.Gly71Val)
c.62G>T (p.Gly21Val)
n.263G>T
c.260G>T (p.Gly87Val)
12g.114401856C>GCA386863065TBX5c.212G>C (p.Gly71Ala)
c.62G>C (p.Gly21Ala)
n.263G>C
c.260G>C (p.Gly87Ala)
12g.114401856C>TCA386863067TBX5c.212G>A (p.Gly71Asp)
c.62G>A (p.Gly21Asp)
n.263G>A
c.260G>A (p.Gly87Asp)
12g.114401857C>ACA386863069TBX5c.211G>T (p.Gly71Cys)
c.61G>T (p.Gly21Cys)
n.262G>T
c.259G>T (p.Gly87Cys)
12g.114401857C>GCA386863071TBX5c.211G>C (p.Gly71Arg)
c.61G>C (p.Gly21Arg)
n.262G>C
c.259G>C (p.Gly87Arg)
12g.114401857C>TCA386863074TBX5c.211G>A (p.Gly71Ser)
c.61G>A (p.Gly21Ser)
n.262G>A
c.259G>A (p.Gly87Ser)
 gnomAD v4
12g.114401858C>ACA481920801TBX5c.210G>T (p.Val70=)
c.60G>T (p.Val20=)
n.261G>T
c.258G>T (p.Val86=)
12g.114401858C>GCA481920802TBX5c.210G>C (p.Val70=)
c.60G>C (p.Val20=)
n.261G>C
c.258G>C (p.Val86=)
 gnomAD v4
12g.114401858C>TCA481920803TBX5c.210G>A (p.Val70=)
c.60G>A (p.Val20=)
n.261G>A
c.258G>A (p.Val86=)
 COSMIC COSMIC
12g.114401859A>CCA386863076TBX5c.209T>G (p.Val70Gly)
c.59T>G (p.Val20Gly)
n.260T>G
c.257T>G (p.Val86Gly)
12g.114401859A>GCA386863078TBX5c.209T>C (p.Val70Ala)
c.59T>C (p.Val20Ala)
n.260T>C
c.257T>C (p.Val86Ala)
12g.114401859A>TCA386863080TBX5c.209T>A (p.Val70Glu)
c.59T>A (p.Val20Glu)
n.260T>A
c.257T>A (p.Val86Glu)
12g.114401860C>ACA386863082TBX5c.208G>T (p.Val70Leu)
c.58G>T (p.Val20Leu)
n.259G>T
c.256G>T (p.Val86Leu)
12g.114401860C=CA2064655114TBX5c.208G= (p.Val70=)
c.58G= (p.Val20=)
n.259G=
c.256G= (p.Val86=)
12g.114401860C>GCA386863084TBX5c.208G>C (p.Val70Leu)
c.58G>C (p.Val20Leu)
n.259G>C
c.256G>C (p.Val86Leu)
12g.114401860C>TCA386863086TBX5c.208G>A (p.Val70Met)
c.58G>A (p.Val20Met)
n.259G>A
c.256G>A (p.Val86Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114401861T>ACA386863087TBX5c.207A>T (p.Glu69Asp)
c.57A>T (p.Glu19Asp)
n.258A>T
c.255A>T (p.Glu85Asp)
12g.114401861T>CCA481920804TBX5c.207A>G (p.Glu69=)
c.57A>G (p.Glu19=)
n.258A>G
c.255A>G (p.Glu85=)
 gnomAD v4
12g.114401861T>GCA6809680TBX5c.207A>C (p.Glu69Asp)
c.57A>C (p.Glu19Asp)
n.258A>C
c.255A>C (p.Glu85Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114401861T=CA2064655115TBX5c.207A= (p.Glu69=)
c.57A= (p.Glu19=)
n.258A=
c.255A= (p.Glu85=)
12g.114401862T>ACA386863090TBX5c.206A>T (p.Glu69Val)
c.56A>T (p.Glu19Val)
n.257A>T
c.254A>T (p.Glu85Val)
12g.114401862T>CCA386863092TBX5c.206A>G (p.Glu69Gly)
c.56A>G (p.Glu19Gly)
n.257A>G
c.254A>G (p.Glu85Gly)
12g.114401862T>GCA386863093TBX5c.206A>C (p.Glu69Ala)
c.56A>C (p.Glu19Ala)
n.257A>C
c.254A>C (p.Glu85Ala)
12g.114401863C>ACA254295TBX5c.205G>T (p.Glu69Ter)
c.55G>T (p.Glu19Ter)
n.256G>T
c.253G>T (p.Glu85Ter)
 ClinVar dbSNP
12g.114401863C=CA2064655129TBX5c.205G= (p.Glu69=)
c.55G= (p.Glu19=)
n.256G=
c.253G= (p.Glu85=)
12g.114401863C>GCA386863095TBX5c.205G>C (p.Glu69Gln)
c.55G>C (p.Glu19Gln)
n.256G>C
c.253G>C (p.Glu85Gln)
 gnomAD v4
12g.114401863C>TCA386863098TBX5c.205G>A (p.Glu69Lys)
c.55G>A (p.Glu19Lys)
n.256G>A
c.253G>A (p.Glu85Lys)
 dbSNP COSMIC
12g.114401864G>ACA6809681TBX5c.204C>T (p.His68=)
c.54C>T (p.His18=)
n.255C>T
c.252C>T (p.His84=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114401864G>CCA386863100TBX5c.204C>G (p.His68Gln)
c.54C>G (p.His18Gln)
n.255C>G
c.252C>G (p.His84Gln)
 gnomAD v4
12g.114401864G=CA2064655132TBX5c.204C= (p.His68=)
c.54C= (p.His18=)
n.255C=
c.252C= (p.His84=)
12g.114401864G>TCA386863101TBX5c.204C>A (p.His68Gln)
c.54C>A (p.His18Gln)
n.255C>A
c.252C>A (p.His84Gln)
12g.114401865T>ACA386863102TBX5c.203A>T (p.His68Leu)
c.53A>T (p.His18Leu)
n.254A>T
c.251A>T (p.His84Leu)
12g.114401865T>CCA386863103TBX5c.203A>G (p.His68Arg)
c.53A>G (p.His18Arg)
n.254A>G
c.251A>G (p.His84Arg)
12g.114401865T>GCA386863104TBX5c.203A>C (p.His68Pro)
c.53A>C (p.His18Pro)
n.254A>C
c.251A>C (p.His84Pro)
12g.114401865_114401866delinsTGCA2064655137TBX5c.202_203delinsCA (p.His68=)
c.52_53delinsCA (p.His18=)
n.253_254delinsCA
c.250_251delinsCA (p.His84=)
12g.114401866G>ACA386863112TBX5c.202C>T (p.His68Tyr)
c.52C>T (p.His18Tyr)
n.253C>T
c.250C>T (p.His84Tyr)
12g.114401866G>CCA386863106TBX5c.202C>G (p.His68Asp)
c.52C>G (p.His18Asp)
n.253C>G
c.250C>G (p.His84Asp)
12g.114401866G>TCA386863110TBX5c.202C>A (p.His68Asn)
c.52C>A (p.His18Asn)
n.253C>A
c.250C>A (p.His84Asn)
12g.114401867delCA16042786TBX5c.202del (p.His68ThrfsTer7)
c.52del (p.His18ThrfsTer7)
n.253del
c.250del (p.His84ThrfsTer7)
 ClinVar dbSNP
12g.114401867G>ACA6809682TBX5c.201C>T (p.Phe67=)
c.51C>T (p.Phe17=)
n.252C>T
c.249C>T (p.Phe83=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114401867G>CCA386863114TBX5c.201C>G (p.Phe67Leu)
c.51C>G (p.Phe17Leu)
n.252C>G
c.249C>G (p.Phe83Leu)
12g.114401867G=CA2064655149TBX5c.201C= (p.Phe67=)
c.51C= (p.Phe17=)
n.252C=
c.249C= (p.Phe83=)
12g.114401867G>TCA386863117TBX5c.201C>A (p.Phe67Leu)
c.51C>A (p.Phe17Leu)
n.252C>A
c.249C>A (p.Phe83Leu)
12g.114401868A>CCA386863119TBX5c.200T>G (p.Phe67Cys)
c.50T>G (p.Phe17Cys)
n.251T>G
c.248T>G (p.Phe83Cys)
12g.114401868A>GCA386863121TBX5c.200T>C (p.Phe67Ser)
c.50T>C (p.Phe17Ser)
n.251T>C
c.248T>C (p.Phe83Ser)
12g.114401868A>TCA386863123TBX5c.200T>A (p.Phe67Tyr)
c.50T>A (p.Phe17Tyr)
n.251T>A
c.248T>A (p.Phe83Tyr)
12g.114401869A>CCA386863125TBX5c.199T>G (p.Phe67Val)
c.49T>G (p.Phe17Val)
n.250T>G
c.247T>G (p.Phe83Val)
12g.114401869A>GCA386863127TBX5c.199T>C (p.Phe67Leu)
c.49T>C (p.Phe17Leu)
n.250T>C
c.247T>C (p.Phe83Leu)
12g.114401869A>TCA386863129TBX5c.199T>A (p.Phe67Ile)
c.49T>A (p.Phe17Ile)
n.250T>A
c.247T>A (p.Phe83Ile)
12g.114401870T>ACA386863131TBX5c.198A>T (p.Lys66Asn)
c.48A>T (p.Lys16Asn)
n.249A>T
c.246A>T (p.Lys82Asn)
12g.114401870T>CCA481920805TBX5c.198A>G (p.Lys66=)
c.48A>G (p.Lys16=)
n.249A>G
c.246A>G (p.Lys82=)
12g.114401870T>GCA386863132TBX5c.198A>C (p.Lys66Asn)
c.48A>C (p.Lys16Asn)
n.249A>C
c.246A>C (p.Lys82Asn)
12g.114401871T>ACA386863134TBX5c.197A>T (p.Lys66Ile)
c.47A>T (p.Lys16Ile)
n.248A>T
c.245A>T (p.Lys82Ile)
 dbSNP
12g.114401871T>CCA386863136TBX5c.197A>G (p.Lys66Arg)
c.47A>G (p.Lys16Arg)
n.248A>G
c.245A>G (p.Lys82Arg)
12g.114401871T>GCA386863137TBX5c.197A>C (p.Lys66Thr)
c.47A>C (p.Lys16Thr)
n.248A>C
c.245A>C (p.Lys82Thr)
12g.114401871T=CA2064655156TBX5c.197A= (p.Lys66=)
c.47A= (p.Lys16=)
n.248A=
c.245A= (p.Lys82=)
12g.114401872T>ACA386863144TBX5c.196A>T (p.Lys66Ter)
c.46A>T (p.Lys16Ter)
n.247A>T
c.244A>T (p.Lys82Ter)
12g.114401872T>CCA386863140TBX5c.196A>G (p.Lys66Glu)
c.46A>G (p.Lys16Glu)
n.247A>G
c.244A>G (p.Lys82Glu)
12g.114401872T>GCA386863142TBX5c.196A>C (p.Lys66Gln)
c.46A>C (p.Lys16Gln)
n.247A>C
c.244A>C (p.Lys82Gln)
12g.114401873T>ACA481920806TBX5c.195A>T (p.Leu65=)
c.45A>T (p.Leu15=)
n.246A>T
c.243A>T (p.Leu81=)
12g.114401873T>CCA481920807TBX5c.195A>G (p.Leu65=)
c.45A>G (p.Leu15=)
n.246A>G
c.243A>G (p.Leu81=)
 dbSNP gnomAD v4
12g.114401873T>GCA481920808TBX5c.195A>C (p.Leu65=)
c.45A>C (p.Leu15=)
n.246A>C
c.243A>C (p.Leu81=)
12g.114401874delCA2695217405TBX5c.194del (p.Leu65GlnfsTer10)
c.44del (p.Leu15GlnfsTer10)
n.245del
c.242del (p.Leu81GlnfsTer10)
12g.114401874A>CCA386863146TBX5c.194T>G (p.Leu65Arg)
c.44T>G (p.Leu15Arg)
n.245T>G
c.242T>G (p.Leu81Arg)
12g.114401874A>GCA386863148TBX5c.194T>C (p.Leu65Pro)
c.44T>C (p.Leu15Pro)
n.245T>C
c.242T>C (p.Leu81Pro)
 ClinVar
12g.114401874A>TCA386863149TBX5c.194T>A (p.Leu65Gln)
c.44T>A (p.Leu15Gln)
n.245T>A
c.242T>A (p.Leu81Gln)
12g.114401875G>ACA481920809TBX5c.193C>T (p.Leu65=)
c.43C>T (p.Leu15=)
n.244C>T
c.241C>T (p.Leu81=)
12g.114401875G>CCA386863152TBX5c.193C>G (p.Leu65Val)
c.43C>G (p.Leu15Val)
n.244C>G
c.241C>G (p.Leu81Val)
12g.114401875G>TCA386863154TBX5c.193C>A (p.Leu65Ile)
c.43C>A (p.Leu15Ile)
n.244C>A
c.241C>A (p.Leu81Ile)
12g.114401876C>ACA386863156TBX5c.192G>T (p.Trp64Cys)
c.42G>T (p.Trp14Cys)
n.243G>T
c.240G>T (p.Trp80Cys)
 ClinVar dbSNP gnomAD v4
12g.114401876C=CA2064655163TBX5c.192G= (p.Trp64=)
c.42G= (p.Trp14=)
n.243G=
c.240G= (p.Trp80=)
12g.114401876C>GCA386863158TBX5c.192G>C (p.Trp64Cys)
c.42G>C (p.Trp14Cys)
n.243G>C
c.240G>C (p.Trp80Cys)
12g.114401876C>TCA386863160TBX5c.192G>A (p.Trp64Ter)
c.42G>A (p.Trp14Ter)
n.243G>A
c.240G>A (p.Trp80Ter)
 ClinVar dbSNP
12g.114401877C>ACA386863162TBX5c.191G>T (p.Trp64Leu)
c.41G>T (p.Trp14Leu)
n.242G>T
c.239G>T (p.Trp80Leu)
12g.114401877C>GCA386863164TBX5c.191G>C (p.Trp64Ser)
c.41G>C (p.Trp14Ser)
n.242G>C
c.239G>C (p.Trp80Ser)
12g.114401877C>TCA386863165TBX5c.191G>A (p.Trp64Ter)
c.41G>A (p.Trp14Ter)
n.242G>A
c.239G>A (p.Trp80Ter)
12g.114401878A>CCA386863169TBX5c.190T>G (p.Trp64Gly)
c.40T>G (p.Trp14Gly)
n.241T>G
c.238T>G (p.Trp80Gly)
12g.114401878A>GCA386863170TBX5c.190T>C (p.Trp64Arg)
c.40T>C (p.Trp14Arg)
n.241T>C
c.238T>C (p.Trp80Arg)
12g.114401878A>TCA386863168TBX5c.190T>A (p.Trp64Arg)
c.40T>A (p.Trp14Arg)
n.241T>A
c.238T>A (p.Trp80Arg)
12g.114401879C>ACA481920810TBX5c.189G>T (p.Leu63=)
c.39G>T (p.Leu13=)
n.240G>T
c.237G>T (p.Leu79=)
12g.114401879C>GCA481920811TBX5c.189G>C (p.Leu63=)
c.39G>C (p.Leu13=)
n.240G>C
c.237G>C (p.Leu79=)
12g.114401879C>TCA481920812TBX5c.189G>A (p.Leu63=)
c.39G>A (p.Leu13=)
n.240G>A
c.237G>A (p.Leu79=)
12g.114401879_114401880delinsCACA2064655172TBX5c.188_189delinsTG (p.Leu63=)
c.38_39delinsTG (p.Leu13=)
n.239_240delinsTG
c.236_237delinsTG (p.Leu79=)
12g.114401880delCA658797967TBX5c.188del (p.Leu63ArgfsTer3)
c.38del (p.Leu13ArgfsTer3)
n.239del
c.236del (p.Leu79ArgfsTer3)
 ClinVar dbSNP
12g.114401880A>CCA386863172TBX5c.188T>G (p.Leu63Arg)
c.38T>G (p.Leu13Arg)
n.239T>G
c.236T>G (p.Leu79Arg)
 ClinVar
12g.114401880A>GCA386863174TBX5c.188T>C (p.Leu63Pro)
c.38T>C (p.Leu13Pro)
n.239T>C
c.236T>C (p.Leu79Pro)
12g.114401880A>TCA386863176TBX5c.188T>A (p.Leu63Gln)
c.38T>A (p.Leu13Gln)
n.239T>A
c.236T>A (p.Leu79Gln)
12g.114401881G>ACA481920813TBX5c.187C>T (p.Leu63=)
c.37C>T (p.Leu13=)
n.238C>T
c.235C>T (p.Leu79=)
12g.114401881G>CCA386863178TBX5c.187C>G (p.Leu63Val)
c.37C>G (p.Leu13Val)
n.238C>G
c.235C>G (p.Leu79Val)
12g.114401881G>TCA386863179TBX5c.187C>A (p.Leu63Met)
c.37C>A (p.Leu13Met)
n.238C>A
c.235C>A (p.Leu79Met)
12g.114401882T>ACA386863180TBX5c.186A>T (p.Glu62Asp)
c.36A>T (p.Glu12Asp)
n.237A>T
c.234A>T (p.Glu78Asp)
12g.114401882T>CCA481920814TBX5c.186A>G (p.Glu62=)
c.36A>G (p.Glu12=)
n.237A>G
c.234A>G (p.Glu78=)
12g.114401882T>GCA386863181TBX5c.186A>C (p.Glu62Asp)
c.36A>C (p.Glu12Asp)
n.237A>C
c.234A>C (p.Glu78Asp)
12g.114401883T>ACA386863184TBX5c.185A>T (p.Glu62Val)
c.35A>T (p.Glu12Val)
n.236A>T
c.233A>T (p.Glu78Val)
12g.114401883T>CCA386863185TBX5c.185A>G (p.Glu62Gly)
c.35A>G (p.Glu12Gly)
n.236A>G
c.233A>G (p.Glu78Gly)
 gnomAD v4
12g.114401883T>GCA386863186TBX5c.185A>C (p.Glu62Ala)
c.35A>C (p.Glu12Ala)
n.236A>C
c.233A>C (p.Glu78Ala)
12g.114401884C>ACA386863188TBX5c.184G>T (p.Glu62Ter)
c.34G>T (p.Glu12Ter)
n.235G>T
c.232G>T (p.Glu78Ter)
12g.114401884C=CA2064655178TBX5c.184G= (p.Glu62=)
c.34G= (p.Glu12=)
n.235G=
c.232G= (p.Glu78=)
12g.114401884C>GCA386863189TBX5c.184G>C (p.Glu62Gln)
c.34G>C (p.Glu12Gln)
n.235G>C
c.232G>C (p.Glu78Gln)
12g.114401884C>TCA6809683TBX5c.184G>A (p.Glu62Lys)
c.34G>A (p.Glu12Lys)
n.235G>A
c.232G>A (p.Glu78Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114401885T>ACA386863193TBX5c.183A>T (p.Arg61Ser)
c.33A>T (p.Arg11Ser)
n.234A>T
c.231A>T (p.Arg77Ser)
12g.114401885T>CCA6809685TBX5c.183A>G (p.Arg61=)
c.33A>G (p.Arg11=)
n.234A>G
c.231A>G (p.Arg77=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114401885T>GCA6809684TBX5c.183A>C (p.Arg61Ser)
c.33A>C (p.Arg11Ser)
n.234A>C
c.231A>C (p.Arg77Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.114401885T=CA2064655182TBX5c.183A= (p.Arg61=)
c.33A= (p.Arg11=)
n.234A=
c.231A= (p.Arg77=)
12g.114401886C>ACA386863195TBX5c.182G>T (p.Arg61Ile)
c.32G>T (p.Arg11Ile)
n.233G>T
c.230G>T (p.Arg77Ile)
12g.114401886C=CA2064655187TBX5c.182G= (p.Arg61=)
c.32G= (p.Arg11=)
n.233G=
c.230G= (p.Arg77=)
12g.114401886C>GCA386863197TBX5c.182G>C (p.Arg61Thr)
c.32G>C (p.Arg11Thr)
n.233G>C
c.230G>C (p.Arg77Thr)
 gnomAD v4
12g.114401886C>TCA386863198TBX5c.182G>A (p.Arg61Lys)
c.32G>A (p.Arg11Lys)
n.233G>A
c.230G>A (p.Arg77Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.114401887T>ACA386863201TBX5c.181A>T (p.Arg61Ter)
c.31A>T (p.Arg11Ter)
n.232A>T
c.229A>T (p.Arg77Ter)
12g.114401887T>CCA386863202TBX5c.181A>G (p.Arg61Gly)
c.31A>G (p.Arg11Gly)
n.232A>G
c.229A>G (p.Arg77Gly)
 gnomAD v4
12g.114401887T>GCA481920815TBX5c.181A>C (p.Arg61=)
c.31A>C (p.Arg11=)
n.232A>C
c.229A>C (p.Arg77=)
12g.114401888T>ACA386863205TBX5c.180A>T (p.Glu60Asp)
c.30A>T (p.Glu10Asp)
n.231A>T
c.228A>T (p.Glu76Asp)
12g.114401888T>CCA481920816TBX5c.180A>G (p.Glu60=)
c.30A>G (p.Glu10=)
n.231A>G
c.228A>G (p.Glu76=)
12g.114401888T>GCA386863207TBX5c.180A>C (p.Glu60Asp)
c.30A>C (p.Glu10Asp)
n.231A>C
c.228A>C (p.Glu76Asp)
12g.114401889T>ACA386863209TBX5c.179A>T (p.Glu60Val)
c.29A>T (p.Glu10Val)
n.230A>T
c.227A>T (p.Glu76Val)
12g.114401889T>CCA386863211TBX5c.179A>G (p.Glu60Gly)
c.29A>G (p.Glu10Gly)
n.230A>G
c.227A>G (p.Glu76Gly)
12g.114401889T>GCA386863213TBX5c.179A>C (p.Glu60Ala)
c.29A>C (p.Glu10Ala)
n.230A>C
c.227A>C (p.Glu76Ala)
12g.114401890C>ACA16619437TBX5c.178G>T (p.Glu60Ter)
c.28G>T (p.Glu10Ter)
n.229G>T
c.226G>T (p.Glu76Ter)
 ClinVar dbSNP
12g.114401890C=CA2064655195TBX5c.178G= (p.Glu60=)
c.28G= (p.Glu10=)
n.229G=
c.226G= (p.Glu76=)
12g.114401890C>GCA386863216TBX5c.178G>C (p.Glu60Gln)
c.28G>C (p.Glu10Gln)
n.229G>C
c.226G>C (p.Glu76Gln)
12g.114401890C>TCA386863217TBX5c.178G>A (p.Glu60Lys)
c.28G>A (p.Glu10Lys)
n.229G>A
c.226G>A (p.Glu76Lys)
12g.114401891A=CA2064655200TBX5c.177T= (p.His59=)
c.27T= (p.His9=)
n.228T=
c.225T= (p.His75=)
12g.114401891A>CCA386863221TBX5c.177T>G (p.His59Gln)
c.27T>G (p.His9Gln)
n.228T>G
c.225T>G (p.His75Gln)
12g.114401891A>GCA6809686TBX5c.177T>C (p.His59=)
c.27T>C (p.His9=)
n.228T>C
c.225T>C (p.His75=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.114401891A>TCA386863219TBX5c.177T>A (p.His59Gln)
c.27T>A (p.His9Gln)
n.228T>A
c.225T>A (p.His75Gln)
12g.114401892T>ACA386863223TBX5c.176A>T (p.His59Leu)
c.26A>T (p.His9Leu)
n.227A>T
c.224A>T (p.His75Leu)
12g.114401892T>CCA386863226TBX5c.176A>G (p.His59Arg)
c.26A>G (p.His9Arg)
n.227A>G
c.224A>G (p.His75Arg)
 gnomAD v4
12g.114401892T>GCA386863225TBX5c.176A>C (p.His59Pro)
c.26A>C (p.His9Pro)
n.227A>C
c.224A>C (p.His75Pro)
 gnomAD v4
12g.114401893G>ACA386863228TBX5c.175C>T (p.His59Tyr)
c.25C>T (p.His9Tyr)
n.226C>T
c.223C>T (p.His75Tyr)
 gnomAD v4 COSMIC COSMIC
12g.114401893G>CCA386863232TBX5c.175C>G (p.His59Asp)
c.25C>G (p.His9Asp)
n.226C>G
c.223C>G (p.His75Asp)
12g.114401893G>TCA386863230TBX5c.175C>A (p.His59Asn)
c.25C>A (p.His9Asn)
n.226C>A
c.223C>A (p.His75Asn)
12g.114401894G>ACA10636535TBX5c.174C>T (p.Leu58=)
c.24C>T (p.Leu8=)
n.225C>T
c.222C>T (p.Leu74=)
 ClinVar dbSNP
12g.114401894G>CCA481920818TBX5c.174C>G (p.Leu58=)
c.24C>G (p.Leu8=)
n.225C>G
c.222C>G (p.Leu74=)
12g.114401894G=CA2064655203TBX5c.174C= (p.Leu58=)
c.24C= (p.Leu8=)
n.225C=
c.222C= (p.Leu74=)
12g.114401894G>TCA481920817TBX5c.174C>A (p.Leu58=)
c.24C>A (p.Leu8=)
n.225C>A
c.222C>A (p.Leu74=)
 ClinVar
12g.114401895A=CA2064655211TBX5c.173T= (p.Leu58=)
c.23T= (p.Leu8=)
n.224T=
c.221T= (p.Leu74=)
12g.114401895A>CCA386863235TBX5c.173T>G (p.Leu58Arg)
c.23T>G (p.Leu8Arg)
n.224T>G
c.221T>G (p.Leu74Arg)
12g.114401895A>GCA386863236TBX5c.173T>C (p.Leu58Pro)
c.23T>C (p.Leu8Pro)
n.224T>C
c.221T>C (p.Leu74Pro)
 dbSNP gnomAD v2 gnomAD v4
12g.114401895A>TCA386863237TBX5c.173T>A (p.Leu58His)
c.23T>A (p.Leu8His)
n.224T>A
c.221T>A (p.Leu74His)
12g.114401895_114401905delinsAGAAACACTTTCA2064655210TBX5c.163_173delinsAAAGTGTTTCT (p.Lys55=)
c.13_23delinsAAAGTGTTTCT (p.Lys5=)
n.214_224delinsAAAGTGTTTCT
c.211_221delinsAAAGTGTTTCT (p.Lys71=)

Number of alleles fetched