Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121137648T>A | CA254067 | TBCEL-TECTA,TECTA | c.3169T>A (p.Cys1057Ser) c.476T>A c.4126T>A (p.Cys1376Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121137648T>C | CA383019102 | TBCEL-TECTA,TECTA | c.3169T>C (p.Cys1057Arg) c.476T>C c.4126T>C (p.Cys1376Arg) | |
11 | g.121137648T>G | CA383019103 | TBCEL-TECTA,TECTA | c.3169T>G (p.Cys1057Gly) c.476T>G c.4126T>G (p.Cys1376Gly) | |
11 | g.121137648T= | CA2004733837 | TBCEL-TECTA,TECTA | c.3169T= (p.Cys1057=) c.476T= c.4126T= (p.Cys1376=) | |
11 | g.121137648dup | CA477382379 | TBCEL-TECTA,TECTA | c.3169dup (p.Cys1057LeufsTer24) c.476dup c.4126dup (p.Cys1376LeufsTer24) | |
11 | g.121137649G>A | CA383019105 | TBCEL-TECTA,TECTA | c.3170G>A (p.Cys1057Tyr) c.477G>A c.4127G>A (p.Cys1376Tyr) | |
11 | g.121137649G>C | CA383019106 | TBCEL-TECTA,TECTA | c.3170G>C (p.Cys1057Ser) c.477G>C c.4127G>C (p.Cys1376Ser) | |
11 | g.121137649G>T | CA383019104 | TBCEL-TECTA,TECTA | c.3170G>T (p.Cys1057Phe) c.477G>T c.4127G>T (p.Cys1376Phe) | |
11 | g.121137650C>A | CA383019107 | TBCEL-TECTA,TECTA | c.3171C>A (p.Cys1057Ter) c.478C>A c.4128C>A (p.Cys1376Ter) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137650C= | CA2004733839 | TBCEL-TECTA,TECTA | c.3171C= (p.Cys1057=) c.478C= c.4128C= (p.Cys1376=) | |
11 | g.121137650C>G | CA383019108 | TBCEL-TECTA,TECTA | c.3171C>G (p.Cys1057Trp) c.478C>G c.4128C>G (p.Cys1376Trp) | |
11 | g.121137650C>T | CA477382382 | TBCEL-TECTA,TECTA | c.3171C>T (p.Cys1057=) c.478C>T c.4128C>T (p.Cys1376=) | dbSNP COSMIC |
11 | g.121137651C>A | CA383019109 | TBCEL-TECTA,TECTA | c.3172C>A (p.Gln1058Lys) c.479C>A c.4129C>A (p.Gln1377Lys) | |
11 | g.121137651C>G | CA383019110 | TBCEL-TECTA,TECTA | c.3172C>G (p.Gln1058Glu) c.479C>G c.4129C>G (p.Gln1377Glu) | |
11 | g.121137651C>T | CA383019111 | TBCEL-TECTA,TECTA | c.3172C>T (p.Gln1058Ter) c.479C>T c.4129C>T (p.Gln1377Ter) | |
11 | g.121137652A>C | CA383019114 | TBCEL-TECTA,TECTA | c.3173A>C (p.Gln1058Pro) c.480A>C c.4130A>C (p.Gln1377Pro) | |
11 | g.121137652A>G | CA383019112 | TBCEL-TECTA,TECTA | c.3173A>G (p.Gln1058Arg) c.480A>G c.4130A>G (p.Gln1377Arg) | |
11 | g.121137652A>T | CA383019113 | TBCEL-TECTA,TECTA | c.3173A>T (p.Gln1058Leu) c.480A>T c.4130A>T (p.Gln1377Leu) | |
11 | g.121137653G>A | CA477382385 | TBCEL-TECTA,TECTA | c.3174G>A (p.Gln1058=) c.481G>A c.4131G>A (p.Gln1377=) | |
11 | g.121137653G>C | CA383019115 | TBCEL-TECTA,TECTA | c.3174G>C (p.Gln1058His) c.481G>C c.4131G>C (p.Gln1377His) | |
11 | g.121137653G>T | CA383019116 | TBCEL-TECTA,TECTA | c.3174G>T (p.Gln1058His) c.481G>T c.4131G>T (p.Gln1377His) | |
11 | g.121137654A= | CA2004733841 | TBCEL-TECTA,TECTA | c.3175A= (p.Ile1059=) c.482A= c.4132A= (p.Ile1378=) | |
11 | g.121137654A>C | CA383019117 | TBCEL-TECTA,TECTA | c.3175A>C (p.Ile1059Leu) c.482A>C c.4132A>C (p.Ile1378Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137654A>G | CA383019118 | TBCEL-TECTA,TECTA | c.3175A>G (p.Ile1059Val) c.482A>G c.4132A>G (p.Ile1378Val) | |
11 | g.121137654A>T | CA383019119 | TBCEL-TECTA,TECTA | c.3175A>T (p.Ile1059Phe) c.482A>T c.4132A>T (p.Ile1378Phe) | |
11 | g.121137654_121137657delinsATCT | CA2004733842 | TBCEL-TECTA,TECTA | c.3175_3178delinsATCT (p.Ile1059=) c.482_485delinsATCT c.4132_4135delinsATCT (p.Ile1378=) | |
11 | g.121137655T>A | CA383019120 | TBCEL-TECTA,TECTA | c.3176T>A (p.Ile1059Asn) c.483T>A c.4133T>A (p.Ile1378Asn) | |
11 | g.121137655T>C | CA383019122 | TBCEL-TECTA,TECTA | c.3176T>C (p.Ile1059Thr) c.483T>C c.4133T>C (p.Ile1378Thr) | |
11 | g.121137655T>G | CA383019121 | TBCEL-TECTA,TECTA | c.3176T>G (p.Ile1059Ser) c.483T>G c.4133T>G (p.Ile1378Ser) | |
11 | g.121137655dup | CA2616511739 | TBCEL-TECTA,TECTA | c.3176dup (p.Phe1060LeufsTer21) c.483dup c.4133dup (p.Phe1379LeufsTer21) | gnomAD v4 |
11 | g.121137658_121137660del | CA2004733844 | TBCEL-TECTA,TECTA | c.3179_3181del (p.Phe1060del) c.486_488del c.4136_4138del (p.Phe1379del) | dbSNP gnomAD v4 |
11 | g.121137656C>A | CA477382389 | TBCEL-TECTA,TECTA | c.3177C>A (p.Ile1059=) c.484C>A c.4134C>A (p.Ile1378=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137656C= | CA2004733845 | TBCEL-TECTA,TECTA | c.3177C= (p.Ile1059=) c.484C= c.4134C= (p.Ile1378=) | |
11 | g.121137656C>G | CA383019123 | TBCEL-TECTA,TECTA | c.3177C>G (p.Ile1059Met) c.484C>G c.4134C>G (p.Ile1378Met) | |
11 | g.121137656C>T | CA477382388 | TBCEL-TECTA,TECTA | c.3177C>T (p.Ile1059=) c.484C>T c.4134C>T (p.Ile1378=) | |
11 | g.121137657T>A | CA383019124 | TBCEL-TECTA,TECTA | c.3178T>A (p.Phe1060Ile) c.485T>A c.4135T>A (p.Phe1379Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121137657T>C | CA383019125 | TBCEL-TECTA,TECTA | c.3178T>C (p.Phe1060Leu) c.485T>C c.4135T>C (p.Phe1379Leu) | gnomAD v4 |
11 | g.121137657T>G | CA383019126 | TBCEL-TECTA,TECTA | c.3178T>G (p.Phe1060Val) c.485T>G c.4135T>G (p.Phe1379Val) | |
11 | g.121137657T= | CA2004733847 | TBCEL-TECTA,TECTA | c.3178T= (p.Phe1060=) c.485T= c.4135T= (p.Phe1379=) | |
11 | g.121137658T>A | CA383019127 | TBCEL-TECTA,TECTA | c.3179T>A (p.Phe1060Tyr) c.486T>A c.4136T>A (p.Phe1379Tyr) | |
11 | g.121137658T>C | CA383019128 | TBCEL-TECTA,TECTA | c.3179T>C (p.Phe1060Ser) c.486T>C c.4136T>C (p.Phe1379Ser) | |
11 | g.121137658T>G | CA383019129 | TBCEL-TECTA,TECTA | c.3179T>G (p.Phe1060Cys) c.486T>G c.4136T>G (p.Phe1379Cys) | |
11 | g.121137659C>A | CA383019130 | TBCEL-TECTA,TECTA | c.3180C>A (p.Phe1060Leu) c.487C>A c.4137C>A (p.Phe1379Leu) | |
11 | g.121137659C>G | CA383019131 | TBCEL-TECTA,TECTA | c.3180C>G (p.Phe1060Leu) c.487C>G c.4137C>G (p.Phe1379Leu) | |
11 | g.121137659C>T | CA477382396 | TBCEL-TECTA,TECTA | c.3180C>T (p.Phe1060=) c.487C>T c.4137C>T (p.Phe1379=) | gnomAD v4 |
11 | g.121137660T>A | CA383019132 | TBCEL-TECTA,TECTA | c.3181T>A (p.Cys1061Ser) c.488T>A c.4138T>A (p.Cys1380Ser) | |
11 | g.121137660T>C | CA383019133 | TBCEL-TECTA,TECTA | c.3181T>C (p.Cys1061Arg) c.488T>C c.4138T>C (p.Cys1380Arg) | |
11 | g.121137660T>G | CA383019134 | TBCEL-TECTA,TECTA | c.3181T>G (p.Cys1061Gly) c.488T>G c.4138T>G (p.Cys1380Gly) | |
11 | g.121137661G>A | CA383019136 | TBCEL-TECTA,TECTA | c.3182G>A (p.Cys1061Tyr) c.489G>A c.4139G>A (p.Cys1380Tyr) | |
11 | g.121137661G>C | CA383019137 | TBCEL-TECTA,TECTA | c.3182G>C (p.Cys1061Ser) c.489G>C c.4139G>C (p.Cys1380Ser) |