Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.114354869T>C | CA607711502 | TBX5 | c.*663A>G (n.*663A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354869T>G | CA244262260 | TBX5 | c.*663A>C (n.*663A>C) | dbSNP |
12 | g.114354869T= | CA2064633104 | TBX5 | c.*663A= (n.*663A=) | |
12 | g.114354870T>C | CA683909561 | TBX5 | c.*662A>G (n.*662A>G) | dbSNP gnomAD v4 |
12 | g.114354870T= | CA2064633105 | TBX5 | c.*662A= (n.*662A=) | |
12 | g.114354871G>A | CA2797548250 | TBX5 | c.*661C>T (n.*661C>T) | |
12 | g.114354872G>A | CA2064633107 | TBX5 | c.*660C>T (n.*660C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354872G>C | CA2621124100 | TBX5 | c.*660C>G (n.*660C>G) | gnomAD v4 |
12 | g.114354872G= | CA2064633106 | TBX5 | c.*660C= (n.*660C=) | |
12 | g.114354872G>T | CA2621124101 | TBX5 | c.*660C>A (n.*660C>A) | gnomAD v4 |
12 | g.114354873A= | CA2064633108 | TBX5 | c.*659T= (n.*659T=) | |
12 | g.114354873A>C | CA683909562 | TBX5 | c.*659T>G (n.*659T>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354874G>A | CA2064633110 | TBX5 | c.*658C>T (n.*658C>T) | dbSNP gnomAD v4 |
12 | g.114354874G= | CA2064633109 | TBX5 | c.*658C= (n.*658C=) | |
12 | g.114354876A= | CA2064633111 | TBX5 | c.*656T= (n.*656T=) | |
12 | g.114354876A>G | CA244262270 | TBX5 | c.*656T>C (n.*656T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354876A>T | CA2621124102 | TBX5 | c.*656T>A (n.*656T>A) | gnomAD v4 |
12 | g.114354877G>T | CA2621124103 | TBX5 | c.*655C>A (n.*655C>A) | gnomAD v4 |
12 | g.114354878G>A | CA244262273 | TBX5 | c.*654C>T (n.*654C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354878G= | CA2064633112 | TBX5 | c.*654C= (n.*654C=) | |
12 | g.114354878G>T | CA2621124104 | TBX5 | c.*654C>A (n.*654C>A) | gnomAD v4 |
12 | g.114354879C>A | CA2621124105 | TBX5 | c.*653G>T (n.*653G>T) | gnomAD v4 |
12 | g.114354879C>T | CA2621124106 | TBX5 | c.*653G>A (n.*653G>A) | gnomAD v4 |
12 | g.114354880del | CA2621124107 | TBX5 | c.*652del (n.*652del) | gnomAD v4 |
12 | g.114354881G>T | CA2621124108 | TBX5 | c.*651C>A (n.*651C>A) | gnomAD v4 |
12 | g.114354882G>C | CA2621124109 | TBX5 | c.*650C>G (n.*650C>G) | gnomAD v4 |
12 | g.114354884C>A | CA2621124110 | TBX5 | c.*648G>T (n.*648G>T) | gnomAD v4 |
12 | g.114354885A>G | CA2621124111 | TBX5 | c.*647T>C (n.*647T>C) | gnomAD v4 |
12 | g.114354889C= | CA2064633113 | TBX5 | c.*643G= (n.*643G=) | |
12 | g.114354889C>T | CA2064633114 | TBX5 | c.*643G>A (n.*643G>A) | dbSNP |
12 | g.114354890C>A | CA2621124112 | TBX5 | c.*642G>T (n.*642G>T) | gnomAD v4 |
12 | g.114354890_114354891delinsCA | CA2064633115 | TBX5 | c.*641_*642delinsTG (n.*641_*642delinsTG) | |
12 | g.114354891A>G | CA2602856615 | TBX5 | c.*641T>C (n.*641T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354893del | CA607711504 | TBX5 | c.*641del (n.*641del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354892A= | CA2064633116 | TBX5 | c.*640T= (n.*640T=) | |
12 | g.114354892A>G | CA607711508 | TBX5 | c.*640T>C (n.*640T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354894G>T | CA2621124113 | TBX5 | c.*638C>A (n.*638C>A) | gnomAD v4 |
12 | g.114354895C>A | CA2621124114 | TBX5 | c.*637G>T (n.*637G>T) | gnomAD v4 |
12 | g.114354897A>G | CA2621124115 | TBX5 | c.*635T>C (n.*635T>C) | gnomAD v4 |
12 | g.114354900G>T | CA2621124116 | TBX5 | c.*632C>A (n.*632C>A) | gnomAD v4 |
12 | g.114354901G>A | CA2621124117 | TBX5 | c.*631C>T (n.*631C>T) | gnomAD v4 |
12 | g.114354901G>C | CA683909565 | TBX5 | c.*631C>G (n.*631C>G) | dbSNP |
12 | g.114354901G= | CA2064633117 | TBX5 | c.*631C= (n.*631C=) | |
12 | g.114354901G>T | CA2621124118 | TBX5 | c.*631C>A (n.*631C>A) | gnomAD v4 |
12 | g.114354902G>T | CA2621124119 | TBX5 | c.*630C>A (n.*630C>A) | gnomAD v4 |
12 | g.114354903G>A | CA244262274 | TBX5 | c.*629C>T (n.*629C>T) | dbSNP |
12 | g.114354903G= | CA2064633118 | TBX5 | c.*629C= (n.*629C=) | |
12 | g.114354903G>T | CA607711509 | TBX5 | c.*629C>A (n.*629C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114354905C>A | CA2064633120 | TBX5 | c.*627G>T (n.*627G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114354905C= | CA2064633119 | TBX5 | c.*627G= (n.*627G=) |