Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.114398591G>A | CA481920467 | TBX5 | c.492C>T (p.His164=) c.342C>T (p.His114=) n.543C>T c.540C>T (p.His180=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114398591G>C | CA244127783 | TBX5 | c.492C>G (p.His164Gln) c.342C>G (p.His114Gln) n.543C>G c.540C>G (p.His180Gln) | ClinVar dbSNP gnomAD v4 |
12 | g.114398591G= | CA2064649361 | TBX5 | c.492C= (p.His164=) c.342C= (p.His114=) n.543C= c.540C= (p.His180=) | |
12 | g.114398591G>T | CA386861976 | TBX5 | c.492C>A (p.His164Gln) c.342C>A (p.His114Gln) n.543C>A c.540C>A (p.His180Gln) | |
12 | g.114398592T>A | CA386861977 | TBX5 | c.491A>T (p.His164Leu) c.341A>T (p.His114Leu) n.542A>T c.539A>T (p.His180Leu) | |
12 | g.114398592T>C | CA386861978 | TBX5 | c.491A>G (p.His164Arg) c.341A>G (p.His114Arg) n.542A>G c.539A>G (p.His180Arg) | |
12 | g.114398592T>G | CA386861979 | TBX5 | c.491A>C (p.His164Pro) c.341A>C (p.His114Pro) n.542A>C c.539A>C (p.His180Pro) | |
12 | g.114398593G>A | CA386861980 | TBX5 | c.490C>T (p.His164Tyr) c.340C>T (p.His114Tyr) n.541C>T c.538C>T (p.His180Tyr) | COSMIC COSMIC |
12 | g.114398593G>C | CA386861981 | TBX5 | c.490C>G (p.His164Asp) c.340C>G (p.His114Asp) n.541C>G c.538C>G (p.His180Asp) | |
12 | g.114398593G>T | CA386861982 | TBX5 | c.490C>A (p.His164Asn) c.340C>A (p.His114Asn) n.541C>A c.538C>A (p.His180Asn) | |
12 | g.114398594G>A | CA244127789 | TBX5 | c.489C>T (p.Asn163=) c.339C>T (p.Asn113=) n.540C>T c.537C>T (p.Asn179=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114398594G>C | CA386861983 | TBX5 | c.489C>G (p.Asn163Lys) c.339C>G (p.Asn113Lys) n.540C>G c.537C>G (p.Asn179Lys) | |
12 | g.114398594G= | CA2064649366 | TBX5 | c.489C= (p.Asn163=) c.339C= (p.Asn113=) n.540C= c.537C= (p.Asn179=) | |
12 | g.114398594G>T | CA386861984 | TBX5 | c.489C>A (p.Asn163Lys) c.339C>A (p.Asn113Lys) n.540C>A c.537C>A (p.Asn179Lys) | |
12 | g.114398595T>A | CA386861987 | TBX5 | c.488A>T (p.Asn163Ile) c.338A>T (p.Asn113Ile) n.539A>T c.536A>T (p.Asn179Ile) | |
12 | g.114398595T>C | CA386861985 | TBX5 | c.488A>G (p.Asn163Ser) c.338A>G (p.Asn113Ser) n.539A>G c.536A>G (p.Asn179Ser) | |
12 | g.114398595T>G | CA386861986 | TBX5 | c.488A>C (p.Asn163Thr) c.338A>C (p.Asn113Thr) n.539A>C c.536A>C (p.Asn179Thr) | |
12 | g.114398596T>A | CA386861988 | TBX5 | c.487A>T (p.Asn163Tyr) c.337A>T (p.Asn113Tyr) n.538A>T c.535A>T (p.Asn179Tyr) | |
12 | g.114398596T>C | CA386861989 | TBX5 | c.487A>G (p.Asn163Asp) c.337A>G (p.Asn113Asp) n.538A>G c.535A>G (p.Asn179Asp) | |
12 | g.114398596T>G | CA386861990 | TBX5 | c.487A>C (p.Asn163His) c.337A>C (p.Asn113His) n.538A>C c.535A>C (p.Asn179His) | |
12 | g.114398597G>A | CA481920468 | TBX5 | c.486C>T (p.Asn162=) c.336C>T (p.Asn112=) n.537C>T c.534C>T (p.Asn178=) | |
12 | g.114398597G>C | CA386861991 | TBX5 | c.486C>G (p.Asn162Lys) c.336C>G (p.Asn112Lys) n.537C>G c.534C>G (p.Asn178Lys) | |
12 | g.114398597G>T | CA386861992 | TBX5 | c.486C>A (p.Asn162Lys) c.336C>A (p.Asn112Lys) n.537C>A c.534C>A (p.Asn178Lys) | ClinVar dbSNP |
12 | g.114398598T>A | CA386861993 | TBX5 | c.485A>T (p.Asn162Ile) c.335A>T (p.Asn112Ile) n.536A>T c.533A>T (p.Asn178Ile) | |
12 | g.114398598T>C | CA386861994 | TBX5 | c.485A>G (p.Asn162Ser) c.335A>G (p.Asn112Ser) n.536A>G c.533A>G (p.Asn178Ser) | |
12 | g.114398598T>G | CA386861995 | TBX5 | c.485A>C (p.Asn162Thr) c.335A>C (p.Asn112Thr) n.536A>C c.533A>C (p.Asn178Thr) | |
12 | g.114398598_114398615delinsTTGGTGAGCTTGAGTTTC | CA2064649368 | TBX5 | c.468_485delinsGAAACTCAAGCTCACCAA (p.Gln156=) c.318_335delinsGAAACTCAAGCTCACCAA (p.Gln106=) n.519_536delinsGAAACTCAAGCTCACCAA c.516_533delinsGAAACTCAAGCTCACCAA (p.Gln172=) | |
12 | g.114398599T>A | CA386861996 | TBX5 | c.484A>T (p.Asn162Tyr) c.334A>T (p.Asn112Tyr) n.535A>T c.532A>T (p.Asn178Tyr) | |
12 | g.114398599T>C | CA386861997 | TBX5 | c.484A>G (p.Asn162Asp) c.334A>G (p.Asn112Asp) n.535A>G c.532A>G (p.Asn178Asp) | ClinVar dbSNP |
12 | g.114398599T>G | CA386861998 | TBX5 | c.484A>C (p.Asn162His) c.334A>C (p.Asn112His) n.535A>C c.532A>C (p.Asn178His) | |
12 | g.114398599T= | CA2064649380 | TBX5 | c.484A= (p.Asn162=) c.334A= (p.Asn112=) n.535A= c.532A= (p.Asn178=) | |
12 | g.114398602_114398618del | CA321135 | TBX5 | c.468_484del (p.Lys157GlnfsTer20) c.318_334del (p.Lys107GlnfsTer20) n.519_535del c.516_532del (p.Lys173GlnfsTer20) | ClinVar dbSNP |
12 | g.114398600G>A | CA481920469 | TBX5 | c.483C>T (p.Thr161=) c.333C>T (p.Thr111=) n.534C>T c.531C>T (p.Thr177=) | |
12 | g.114398600G>C | CA6809601 | TBX5 | c.483C>G (p.Thr161=) c.333C>G (p.Thr111=) n.534C>G c.531C>G (p.Thr177=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114398600G= | CA2064649394 | TBX5 | c.483C= (p.Thr161=) c.333C= (p.Thr111=) n.534C= c.531C= (p.Thr177=) | |
12 | g.114398600G>T | CA481920470 | TBX5 | c.483C>A (p.Thr161=) c.333C>A (p.Thr111=) n.534C>A c.531C>A (p.Thr177=) | gnomAD v4 |
12 | g.114398601G>A | CA386862000 | TBX5 | c.482C>T (p.Thr161Ile) c.332C>T (p.Thr111Ile) n.533C>T c.530C>T (p.Thr177Ile) | ClinVar |
12 | g.114398601G>C | CA386861999 | TBX5 | c.482C>G (p.Thr161Ser) c.332C>G (p.Thr111Ser) n.533C>G c.530C>G (p.Thr177Ser) | |
12 | g.114398601G>T | CA386862001 | TBX5 | c.482C>A (p.Thr161Asn) c.332C>A (p.Thr111Asn) n.533C>A c.530C>A (p.Thr177Asn) | |
12 | g.114398602T>A | CA386862002 | TBX5 | c.481A>T (p.Thr161Ser) c.331A>T (p.Thr111Ser) n.532A>T c.529A>T (p.Thr177Ser) | ClinVar dbSNP |
12 | g.114398602T>C | CA386862003 | TBX5 | c.481A>G (p.Thr161Ala) c.331A>G (p.Thr111Ala) n.532A>G c.529A>G (p.Thr177Ala) | |
12 | g.114398602T>G | CA386862004 | TBX5 | c.481A>C (p.Thr161Pro) c.331A>C (p.Thr111Pro) n.532A>C c.529A>C (p.Thr177Pro) | |
12 | g.114398606_114398611dup | CA2695217401 | TBX5 | c.476_481dup (p.Leu160_Thr161insLysLeu) c.326_331dup (p.Leu110_Thr111insLysLeu) n.527_532dup c.524_529dup (p.Leu176_Thr177insLysLeu) | |
12 | g.114398603G>A | CA6809602 | TBX5 | c.480C>T (p.Leu160=) c.330C>T (p.Leu110=) n.531C>T c.528C>T (p.Leu176=) | dbSNP ExAC gnomAD v4 |
12 | g.114398603G>C | CA481920472 | TBX5 | c.480C>G (p.Leu160=) c.330C>G (p.Leu110=) n.531C>G c.528C>G (p.Leu176=) | |
12 | g.114398603G= | CA2064649399 | TBX5 | c.480C= (p.Leu160=) c.330C= (p.Leu110=) n.531C= c.528C= (p.Leu176=) | |
12 | g.114398603G>T | CA481920471 | TBX5 | c.480C>A (p.Leu160=) c.330C>A (p.Leu110=) n.531C>A c.528C>A (p.Leu176=) | |
12 | g.114398604A>C | CA386862005 | TBX5 | c.479T>G (p.Leu160Arg) c.329T>G (p.Leu110Arg) n.530T>G c.527T>G (p.Leu176Arg) | |
12 | g.114398604A>G | CA386862006 | TBX5 | c.479T>C (p.Leu160Pro) c.329T>C (p.Leu110Pro) n.530T>C c.527T>C (p.Leu176Pro) | ClinVar |
12 | g.114398604A>T | CA386862007 | TBX5 | c.479T>A (p.Leu160His) c.329T>A (p.Leu110His) n.530T>A c.527T>A (p.Leu176His) | |
12 | g.114398605G>A | CA386862008 | TBX5 | c.478C>T (p.Leu160Phe) c.328C>T (p.Leu110Phe) n.529C>T c.526C>T (p.Leu176Phe) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114398605G>C | CA386862009 | TBX5 | c.478C>G (p.Leu160Val) c.328C>G (p.Leu110Val) n.529C>G c.526C>G (p.Leu176Val) | |
12 | g.114398605G= | CA2064649406 | TBX5 | c.478C= (p.Leu160=) c.328C= (p.Leu110=) n.529C= c.526C= (p.Leu176=) | |
12 | g.114398605G>T | CA386862010 | TBX5 | c.478C>A (p.Leu160Ile) c.328C>A (p.Leu110Ile) n.529C>A c.526C>A (p.Leu176Ile) | |
12 | g.114398606C>A | CA386862011 | TBX5 | c.477G>T (p.Lys159Asn) c.327G>T (p.Lys109Asn) n.528G>T c.525G>T (p.Lys175Asn) | COSMIC COSMIC |
12 | g.114398606C>G | CA386862012 | TBX5 | c.477G>C (p.Lys159Asn) c.327G>C (p.Lys109Asn) n.528G>C c.525G>C (p.Lys175Asn) | |
12 | g.114398606C>T | CA481920473 | TBX5 | c.477G>A (p.Lys159=) c.327G>A (p.Lys109=) n.528G>A c.525G>A (p.Lys175=) | |
12 | g.114398606_114398610delinsCTTGA | CA2064649416 | TBX5 | c.473_477delinsTCAAG (p.Leu158=) c.323_327delinsTCAAG (p.Leu108=) n.524_528delinsTCAAG c.521_525delinsTCAAG (p.Leu174=) | |
12 | g.114398607T>A | CA386862015 | TBX5 | c.476A>T (p.Lys159Met) c.326A>T (p.Lys109Met) n.527A>T c.524A>T (p.Lys175Met) | |
12 | g.114398607T>C | CA386862014 | TBX5 | c.476A>G (p.Lys159Arg) c.326A>G (p.Lys109Arg) n.527A>G c.524A>G (p.Lys175Arg) | |
12 | g.114398607T>G | CA386862013 | TBX5 | c.476A>C (p.Lys159Thr) c.326A>C (p.Lys109Thr) n.527A>C c.524A>C (p.Lys175Thr) | ClinVar dbSNP |
12 | g.114398607_114398610del | CA658797965 | TBX5 | c.473_476del (p.Leu158ArgfsTer15) c.323_326del (p.Leu108ArgfsTer15) n.524_527del c.521_524del (p.Leu174ArgfsTer15) | ClinVar dbSNP |
12 | g.114398608T>A | CA386862016 | TBX5 | c.475A>T (p.Lys159Ter) c.325A>T (p.Lys109Ter) n.526A>T c.523A>T (p.Lys175Ter) | |
12 | g.114398608T>C | CA386862017 | TBX5 | c.475A>G (p.Lys159Glu) c.325A>G (p.Lys109Glu) n.526A>G c.523A>G (p.Lys175Glu) | |
12 | g.114398608T>G | CA386862018 | TBX5 | c.475A>C (p.Lys159Gln) c.325A>C (p.Lys109Gln) n.526A>C c.523A>C (p.Lys175Gln) | |
12 | g.114398609G>A | CA481920475 | TBX5 | c.474C>T (p.Leu158=) c.324C>T (p.Leu108=) n.525C>T c.522C>T (p.Leu174=) | |
12 | g.114398609G>C | CA481920476 | TBX5 | c.474C>G (p.Leu158=) c.324C>G (p.Leu108=) n.525C>G c.522C>G (p.Leu174=) | |
12 | g.114398609G>T | CA481920474 | TBX5 | c.474C>A (p.Leu158=) c.324C>A (p.Leu108=) n.525C>A c.522C>A (p.Leu174=) | |
12 | g.114398610A>C | CA386862019 | TBX5 | c.473T>G (p.Leu158Arg) c.323T>G (p.Leu108Arg) n.524T>G c.521T>G (p.Leu174Arg) | |
12 | g.114398610A>G | CA386862020 | TBX5 | c.473T>C (p.Leu158Pro) c.323T>C (p.Leu108Pro) n.524T>C c.521T>C (p.Leu174Pro) | |
12 | g.114398610A>T | CA386862021 | TBX5 | c.473T>A (p.Leu158His) c.323T>A (p.Leu108His) n.524T>A c.521T>A (p.Leu174His) | |
12 | g.114398611G>A | CA386862022 | TBX5 | c.472C>T (p.Leu158Phe) c.322C>T (p.Leu108Phe) n.523C>T c.520C>T (p.Leu174Phe) | ClinVar gnomAD v4 |
12 | g.114398611G>C | CA386862023 | TBX5 | c.472C>G (p.Leu158Val) c.322C>G (p.Leu108Val) n.523C>G c.520C>G (p.Leu174Val) | |
12 | g.114398611G>T | CA386862024 | TBX5 | c.472C>A (p.Leu158Ile) c.322C>A (p.Leu108Ile) n.523C>A c.520C>A (p.Leu174Ile) | |
12 | g.114398612T>A | CA386862025 | TBX5 | c.471A>T (p.Lys157Asn) c.321A>T (p.Lys107Asn) n.522A>T c.519A>T (p.Lys173Asn) | |
12 | g.114398612T>C | CA6809603 | TBX5 | c.471A>G (p.Lys157=) c.321A>G (p.Lys107=) n.522A>G c.519A>G (p.Lys173=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114398612T>G | CA386862026 | TBX5 | c.471A>C (p.Lys157Asn) c.321A>C (p.Lys107Asn) n.522A>C c.519A>C (p.Lys173Asn) | |
12 | g.114398612T= | CA2064649438 | TBX5 | c.471A= (p.Lys157=) c.321A= (p.Lys107=) n.522A= c.519A= (p.Lys173=) | |
12 | g.114398613T>A | CA386862029 | TBX5 | c.470A>T (p.Lys157Ile) c.320A>T (p.Lys107Ile) n.521A>T c.518A>T (p.Lys173Ile) | |
12 | g.114398613T>C | CA386862028 | TBX5 | c.470A>G (p.Lys157Arg) c.320A>G (p.Lys107Arg) n.521A>G c.518A>G (p.Lys173Arg) | |
12 | g.114398613T>G | CA386862027 | TBX5 | c.470A>C (p.Lys157Thr) c.320A>C (p.Lys107Thr) n.521A>C c.518A>C (p.Lys173Thr) | |
12 | g.114398614T>A | CA386862030 | TBX5 | c.469A>T (p.Lys157Ter) c.319A>T (p.Lys107Ter) n.520A>T c.517A>T (p.Lys173Ter) | |
12 | g.114398614T>C | CA386862031 | TBX5 | c.469A>G (p.Lys157Glu) c.319A>G (p.Lys107Glu) n.520A>G c.517A>G (p.Lys173Glu) | |
12 | g.114398614T>G | CA386862032 | TBX5 | c.469A>C (p.Lys157Gln) c.319A>C (p.Lys107Gln) n.520A>C c.517A>C (p.Lys173Gln) | |
12 | g.114398615C>A | CA386862033 | TBX5 | c.468G>T (p.Gln156His) c.318G>T (p.Gln106His) n.519G>T c.516G>T (p.Gln172His) | |
12 | g.114398615C= | CA2064649443 | TBX5 | c.468G= (p.Gln156=) c.318G= (p.Gln106=) n.519G= c.516G= (p.Gln172=) | |
12 | g.114398615C>G | CA386862034 | TBX5 | c.468G>C (p.Gln156His) c.318G>C (p.Gln106His) n.519G>C c.516G>C (p.Gln172His) | gnomAD v4 |
12 | g.114398615C>T | CA481920477 | TBX5 | c.468G>A (p.Gln156=) c.318G>A (p.Gln106=) n.519G>A c.516G>A (p.Gln172=) | dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.114398616T>A | CA6809604 | TBX5 | c.467A>T (p.Gln156Leu) c.317A>T (p.Gln106Leu) n.518A>T c.515A>T (p.Gln172Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114398616T>C | CA386862035 | TBX5 | c.467A>G (p.Gln156Arg) c.317A>G (p.Gln106Arg) n.518A>G c.515A>G (p.Gln172Arg) | |
12 | g.114398616T>G | CA386862036 | TBX5 | c.467A>C (p.Gln156Pro) c.317A>C (p.Gln106Pro) n.518A>C c.515A>C (p.Gln172Pro) | |
12 | g.114398616T= | CA2064649447 | TBX5 | c.467A= (p.Gln156=) c.317A= (p.Gln106=) n.518A= c.515A= (p.Gln172=) | |
12 | g.114398616dup | CA2695217402 | TBX5 | c.467dup (p.Lys157GlufsTer26) c.317dup (p.Lys107GlufsTer26) n.518dup c.515dup (p.Lys173GlufsTer26) | |
12 | g.114398616_114398617delinsTG | CA2064649450 | TBX5 | c.466_467delinsCA (p.Gln156=) c.316_317delinsCA (p.Gln106=) n.517_518delinsCA c.514_515delinsCA (p.Gln172=) | |
12 | g.114398617G>A | CA322981 | TBX5 | c.466C>T (p.Gln156Ter) c.316C>T (p.Gln106Ter) n.517C>T c.514C>T (p.Gln172Ter) | dbSNP |
12 | g.114398617G>C | CA386862037 | TBX5 | c.466C>G (p.Gln156Glu) c.316C>G (p.Gln106Glu) n.517C>G c.514C>G (p.Gln172Glu) | |
12 | g.114398617G= | CA2064649464 | TBX5 | c.466C= (p.Gln156=) c.316C= (p.Gln106=) n.517C= c.514C= (p.Gln172=) | |
12 | g.114398617G>T | CA386862038 | TBX5 | c.466C>A (p.Gln156Lys) c.316C>A (p.Gln106Lys) n.517C>A c.514C>A (p.Gln172Lys) | |
12 | g.114398618del | CA10603297 | TBX5 | c.466del (p.Gln156ArgfsTer18) c.316del (p.Gln106ArgfsTer18) n.517del c.514del (p.Gln172ArgfsTer18) | ClinVar dbSNP |
12 | g.114398618G>A | CA6809605 | TBX5 | c.465C>T (p.Phe155=) c.315C>T (p.Phe105=) n.516C>T c.513C>T (p.Phe171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114398618G>C | CA386862040 | TBX5 | c.465C>G (p.Phe155Leu) c.315C>G (p.Phe105Leu) n.516C>G c.513C>G (p.Phe171Leu) | |
12 | g.114398618G= | CA2064649473 | TBX5 | c.465C= (p.Phe155=) c.315C= (p.Phe105=) n.516C= c.513C= (p.Phe171=) | |
12 | g.114398618G>T | CA386862039 | TBX5 | c.465C>A (p.Phe155Leu) c.315C>A (p.Phe105Leu) n.516C>A c.513C>A (p.Phe171Leu) | COSMIC COSMIC |
12 | g.114398618_114398637del | CA2580085837 | TBX5 | c.446_465del (p.Met149ThrfsTer27) c.296_315del (p.Met99ThrfsTer27) n.497_516del c.494_513del (p.Met165ThrfsTer27) | ClinVar |
12 | g.114398619A>C | CA386862041 | TBX5 | c.464T>G (p.Phe155Cys) c.314T>G (p.Phe105Cys) n.515T>G c.512T>G (p.Phe171Cys) | |
12 | g.114398619A>G | CA386862042 | TBX5 | c.464T>C (p.Phe155Ser) c.314T>C (p.Phe105Ser) n.515T>C c.512T>C (p.Phe171Ser) | ClinVar |
12 | g.114398619A>T | CA386862043 | TBX5 | c.464T>A (p.Phe155Tyr) c.314T>A (p.Phe105Tyr) n.515T>A c.512T>A (p.Phe171Tyr) | |
12 | g.114398620A>C | CA386862044 | TBX5 | c.463T>G (p.Phe155Val) c.313T>G (p.Phe105Val) n.514T>G c.511T>G (p.Phe171Val) | |
12 | g.114398620A>G | CA386862045 | TBX5 | c.463T>C (p.Phe155Leu) c.313T>C (p.Phe105Leu) n.514T>C c.511T>C (p.Phe171Leu) | |
12 | g.114398620A>T | CA386862046 | TBX5 | c.463T>A (p.Phe155Ile) c.313T>A (p.Phe105Ile) n.514T>A c.511T>A (p.Phe171Ile) | |
12 | g.114398621G>A | CA481920478 | TBX5 | c.462C>T (p.Ser154=) c.312C>T (p.Ser104=) n.513C>T c.510C>T (p.Ser170=) | |
12 | g.114398621G>C | CA481920479 | TBX5 | c.462C>G (p.Ser154=) c.312C>G (p.Ser104=) n.513C>G c.510C>G (p.Ser170=) | |
12 | g.114398621G= | CA2064649478 | TBX5 | c.462C= (p.Ser154=) c.312C= (p.Ser104=) n.513C= c.510C= (p.Ser170=) | |
12 | g.114398621G>T | CA6809606 | TBX5 | c.462C>A (p.Ser154=) c.312C>A (p.Ser104=) n.513C>A c.510C>A (p.Ser170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114398622G>A | CA386862047 | TBX5 | c.461C>T (p.Ser154Phe) c.311C>T (p.Ser104Phe) n.512C>T c.509C>T (p.Ser170Phe) | dbSNP |
12 | g.114398622G>C | CA386862048 | TBX5 | c.461C>G (p.Ser154Cys) c.311C>G (p.Ser104Cys) n.512C>G c.509C>G (p.Ser170Cys) | gnomAD v4 |
12 | g.114398622G= | CA2064649479 | TBX5 | c.461C= (p.Ser154=) c.311C= (p.Ser104=) n.512C= c.509C= (p.Ser170=) | |
12 | g.114398622G>T | CA386862049 | TBX5 | c.461C>A (p.Ser154Tyr) c.311C>A (p.Ser104Tyr) n.512C>A c.509C>A (p.Ser170Tyr) | |
12 | g.114398623A>C | CA386862050 | TBX5 | c.460T>G (p.Ser154Ala) c.310T>G (p.Ser104Ala) n.511T>G c.508T>G (p.Ser170Ala) | |
12 | g.114398623A>G | CA386862051 | TBX5 | c.460T>C (p.Ser154Pro) c.310T>C (p.Ser104Pro) n.511T>C c.508T>C (p.Ser170Pro) | |
12 | g.114398623A>T | CA386862052 | TBX5 | c.460T>A (p.Ser154Thr) c.310T>A (p.Ser104Thr) n.511T>A c.508T>A (p.Ser170Thr) | |
12 | g.114398624G>A | CA481920480 | TBX5 | c.459C>T (p.Val153=) c.309C>T (p.Val103=) n.510C>T c.507C>T (p.Val169=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114398624G>C | CA481920481 | TBX5 | c.459C>G (p.Val153=) c.309C>G (p.Val103=) n.510C>G c.507C>G (p.Val169=) | |
12 | g.114398624G= | CA2064649482 | TBX5 | c.459C= (p.Val153=) c.309C= (p.Val103=) n.510C= c.507C= (p.Val169=) | |
12 | g.114398624G>T | CA481920482 | TBX5 | c.459C>A (p.Val153=) c.309C>A (p.Val103=) n.510C>A c.507C>A (p.Val169=) | |
12 | g.114398625A= | CA2064649489 | TBX5 | c.458T= (p.Val153=) c.308T= (p.Val103=) n.509T= c.506T= (p.Val169=) | |
12 | g.114398625A>C | CA386862053 | TBX5 | c.458T>G (p.Val153Gly) c.308T>G (p.Val103Gly) n.509T>G c.506T>G (p.Val169Gly) | |
12 | g.114398625A>G | CA386862054 | TBX5 | c.458T>C (p.Val153Ala) c.308T>C (p.Val103Ala) n.509T>C c.506T>C (p.Val169Ala) | |
12 | g.114398625A>T | CA6809607 | TBX5 | c.458T>A (p.Val153Asp) c.308T>A (p.Val103Asp) n.509T>A c.506T>A (p.Val169Asp) | dbSNP ExAC gnomAD v4 |
12 | g.114398626C>A | CA386862055 | TBX5 | c.457G>T (p.Val153Phe) c.307G>T (p.Val103Phe) n.508G>T c.505G>T (p.Val169Phe) | gnomAD v4 |
12 | g.114398626C= | CA2064649499 | TBX5 | c.457G= (p.Val153=) c.307G= (p.Val103=) n.508G= c.505G= (p.Val169=) | |
12 | g.114398626C>G | CA386862056 | TBX5 | c.457G>C (p.Val153Leu) c.307G>C (p.Val103Leu) n.508G>C c.505G>C (p.Val169Leu) | |
12 | g.114398626C>T | CA244127891 | TBX5 | c.457G>A (p.Val153Ile) c.307G>A (p.Val103Ile) n.508G>A c.505G>A (p.Val169Ile) | dbSNP gnomAD v4 |
12 | g.114398626dup | CA913191202 | TBX5 | c.457dup (p.Val153GlyfsTer30) c.307dup (p.Val103GlyfsTer30) n.508dup c.505dup (p.Val169GlyfsTer30) | ClinVar |
12 | g.114398626_114398627delinsCG | CA2064649503 | TBX5 | c.456_457delinsCG (p.Leu152=) c.306_307delinsCG (p.Leu102=) n.507_508delinsCG c.504_505delinsCG (p.Leu168=) | |
12 | g.114398627del | CA16603272 | TBX5 | c.456del (p.Val153SerfsTer21) c.306del (p.Val103SerfsTer21) n.507del c.504del (p.Val169SerfsTer21) | ClinVar dbSNP |
12 | g.114398627G>A | CA6809608 | TBX5 | c.456C>T (p.Leu152=) c.306C>T (p.Leu102=) n.507C>T c.504C>T (p.Leu168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114398627G>C | CA481920483 | TBX5 | c.456C>G (p.Leu152=) c.306C>G (p.Leu102=) n.507C>G c.504C>G (p.Leu168=) | dbSNP gnomAD v4 |
12 | g.114398627G= | CA2064649518 | TBX5 | c.456C= (p.Leu152=) c.306C= (p.Leu102=) n.507C= c.504C= (p.Leu168=) | |
12 | g.114398627G>T | CA481920484 | TBX5 | c.456C>A (p.Leu152=) c.306C>A (p.Leu102=) n.507C>A c.504C>A (p.Leu168=) | |
12 | g.114398628A= | CA2064649538 | TBX5 | c.455T= (p.Leu152=) c.305T= (p.Leu102=) n.506T= c.503T= (p.Leu168=) | |
12 | g.114398628A>C | CA386862057 | TBX5 | c.455T>G (p.Leu152Arg) c.305T>G (p.Leu102Arg) n.506T>G c.503T>G (p.Leu168Arg) | |
12 | g.114398628A>G | CA386862058 | TBX5 | c.455T>C (p.Leu152Pro) c.305T>C (p.Leu102Pro) n.506T>C c.503T>C (p.Leu168Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.114398628A>T | CA386862059 | TBX5 | c.455T>A (p.Leu152His) c.305T>A (p.Leu102His) n.506T>A c.503T>A (p.Leu168His) | |
12 | g.114398629G>A | CA386862060 | TBX5 | c.454C>T (p.Leu152Phe) c.304C>T (p.Leu102Phe) n.505C>T c.502C>T (p.Leu168Phe) | |
12 | g.114398629G>C | CA386862062 | TBX5 | c.454C>G (p.Leu152Val) c.304C>G (p.Leu102Val) n.505C>G c.502C>G (p.Leu168Val) | ClinVar dbSNP gnomAD v4 |
12 | g.114398629G>T | CA386862061 | TBX5 | c.454C>A (p.Leu152Ile) c.304C>A (p.Leu102Ile) n.505C>A c.502C>A (p.Leu168Ile) | |
12 | g.114398630C>A | CA386862063 | TBX5 | c.453G>T (p.Gln151His) c.303G>T (p.Gln101His) n.504G>T c.501G>T (p.Gln167His) | gnomAD v4 |
12 | g.114398630C= | CA2064649544 | TBX5 | c.453G= (p.Gln151=) c.303G= (p.Gln101=) n.504G= c.501G= (p.Gln167=) | |
12 | g.114398630C>G | CA386862064 | TBX5 | c.453G>C (p.Gln151His) c.303G>C (p.Gln101His) n.504G>C c.501G>C (p.Gln167His) | |
12 | g.114398630C>T | CA481920485 | TBX5 | c.453G>A (p.Gln151=) c.303G>A (p.Gln101=) n.504G>A c.501G>A (p.Gln167=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114398631T>A | CA386862065 | TBX5 | c.452A>T (p.Gln151Leu) c.302A>T (p.Gln101Leu) n.503A>T c.500A>T (p.Gln167Leu) | |
12 | g.114398631T>C | CA386862066 | TBX5 | c.452A>G (p.Gln151Arg) c.302A>G (p.Gln101Arg) n.503A>G c.500A>G (p.Gln167Arg) | |
12 | g.114398631T>G | CA386862067 | TBX5 | c.452A>C (p.Gln151Pro) c.302A>C (p.Gln101Pro) n.503A>C c.500A>C (p.Gln167Pro) | |
12 | g.114398632G>A | CA386862068 | TBX5 | c.451C>T (p.Gln151Ter) c.301C>T (p.Gln101Ter) n.502C>T c.499C>T (p.Gln167Ter) | |
12 | g.114398632G>C | CA386862070 | TBX5 | c.451C>G (p.Gln151Glu) c.301C>G (p.Gln101Glu) n.502C>G c.499C>G (p.Gln167Glu) | ClinVar |
12 | g.114398632G>T | CA386862069 | TBX5 | c.451C>A (p.Gln151Lys) c.301C>A (p.Gln101Lys) n.502C>A c.499C>A (p.Gln167Lys) | |
12 | g.114398633C>A | CA6809609 | TBX5 | c.450G>T (p.Arg150Ser) c.300G>T (p.Arg100Ser) n.501G>T c.498G>T (p.Arg166Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114398633C= | CA2064649552 | TBX5 | c.450G= (p.Arg150=) c.300G= (p.Arg100=) n.501G= c.498G= (p.Arg166=) | |
12 | g.114398633C>G | CA386862071 | TBX5 | c.450G>C (p.Arg150Ser) c.300G>C (p.Arg100Ser) n.501G>C c.498G>C (p.Arg166Ser) | |
12 | g.114398633C>T | CA481920486 | TBX5 | c.450G>A (p.Arg150=) c.300G>A (p.Arg100=) n.501G>A c.498G>A (p.Arg166=) | gnomAD v4 |
12 | g.114398634C>A | CA386862072 | TBX5 | c.449G>T (p.Arg150Met) c.299G>T (p.Arg100Met) n.500G>T c.497G>T (p.Arg166Met) | |
12 | g.114398634C>G | CA386862073 | TBX5 | c.449G>C (p.Arg150Thr) c.299G>C (p.Arg100Thr) n.500G>C c.497G>C (p.Arg166Thr) | |
12 | g.114398634C>T | CA386862074 | TBX5 | c.449G>A (p.Arg150Lys) c.299G>A (p.Arg100Lys) n.500G>A c.497G>A (p.Arg166Lys) | gnomAD v4 |
12 | g.114398635T>A | CA386862075 | TBX5 | c.448A>T (p.Arg150Trp) c.298A>T (p.Arg100Trp) n.499A>T c.496A>T (p.Arg166Trp) | |
12 | g.114398635T>C | CA386862076 | TBX5 | c.448A>G (p.Arg150Gly) c.298A>G (p.Arg100Gly) n.499A>G c.496A>G (p.Arg166Gly) | |
12 | g.114398635T>G | CA481920487 | TBX5 | c.448A>C (p.Arg150=) c.298A>C (p.Arg100=) n.499A>C c.496A>C (p.Arg166=) | |
12 | g.114398636C>A | CA386862077 | TBX5 | c.447G>T (p.Met149Ile) c.297G>T (p.Met99Ile) n.498G>T c.495G>T (p.Met165Ile) | |
12 | g.114398636C>G | CA386862078 | TBX5 | c.447G>C (p.Met149Ile) c.297G>C (p.Met99Ile) n.498G>C c.495G>C (p.Met165Ile) | |
12 | g.114398636C>T | CA386862079 | TBX5 | c.447G>A (p.Met149Ile) c.297G>A (p.Met99Ile) n.498G>A c.495G>A (p.Met165Ile) | COSMIC COSMIC |
12 | g.114398637A>C | CA386862080 | TBX5 | c.446T>G (p.Met149Arg) c.296T>G (p.Met99Arg) n.497T>G c.494T>G (p.Met165Arg) | |
12 | g.114398637A>G | CA386862081 | TBX5 | c.446T>C (p.Met149Thr) c.296T>C (p.Met99Thr) n.497T>C c.494T>C (p.Met165Thr) | |
12 | g.114398637A>T | CA386862082 | TBX5 | c.446T>A (p.Met149Lys) c.296T>A (p.Met99Lys) n.497T>A c.494T>A (p.Met165Lys) | |
12 | g.114398638T>A | CA386862083 | TBX5 | c.445A>T (p.Met149Leu) c.295A>T (p.Met99Leu) n.496A>T c.493A>T (p.Met165Leu) | gnomAD v4 |
12 | g.114398638T>C | CA386862085 | TBX5 | c.445A>G (p.Met149Val) c.295A>G (p.Met99Val) n.496A>G c.493A>G (p.Met165Val) | |
12 | g.114398638T>G | CA386862084 | TBX5 | c.445A>C (p.Met149Leu) c.295A>C (p.Met99Leu) n.496A>C c.493A>C (p.Met165Leu) | |
12 | g.114398639C>A | CA386862086 | TBX5 | c.444G>T (p.Trp148Cys) c.294G>T (p.Trp98Cys) n.495G>T c.492G>T (p.Trp164Cys) | |
12 | g.114398639C= | CA2064649577 | TBX5 | c.444G= (p.Trp148=) c.294G= (p.Trp98=) n.495G= c.492G= (p.Trp164=) | |
12 | g.114398639C>G | CA386862087 | TBX5 | c.444G>C (p.Trp148Cys) c.294G>C (p.Trp98Cys) n.495G>C c.492G>C (p.Trp164Cys) | |
12 | g.114398639C>T | CA386862088 | TBX5 | c.444G>A (p.Trp148Ter) c.294G>A (p.Trp98Ter) n.495G>A c.492G>A (p.Trp164Ter) | ClinVar dbSNP |
12 | g.114398639_114398662delinsCCAATGCGCCCCGGTGGCGGGGGA | CA2064649572 | TBX5 | c.421_444delinsTCCCCCGCCACCGGGGCGCATTGG (p.Ser141=) c.271_294delinsTCCCCCGCCACCGGGGCGCATTGG (p.Ser91=) n.472_495delinsTCCCCCGCCACCGGGGCGCATTGG c.469_492delinsTCCCCCGCCACCGGGGCGCATTGG (p.Ser157=) | |
12 | g.114398640C>A | CA386862089 | TBX5 | c.443G>T (p.Trp148Leu) c.293G>T (p.Trp98Leu) n.494G>T c.491G>T (p.Trp164Leu) | |
12 | g.114398640C= | CA2064649588 | TBX5 | c.443G= (p.Trp148=) c.293G= (p.Trp98=) n.494G= c.491G= (p.Trp164=) | |
12 | g.114398640C>G | CA386862090 | TBX5 | c.443G>C (p.Trp148Ser) c.293G>C (p.Trp98Ser) n.494G>C c.491G>C (p.Trp164Ser) | |
12 | g.114398640C>T | CA16613732 | TBX5 | c.443G>A (p.Trp148Ter) c.293G>A (p.Trp98Ter) n.494G>A c.491G>A (p.Trp164Ter) | ClinVar dbSNP |
12 | g.114398640_114398662delinsTCCTGG | CA324506 | TBX5 | c.421_443delinsCCAGGA (p.Ser141ProfsTer?) c.271_293delinsCCAGGA (p.Ser91ProfsTer?) n.472_494delinsCCAGGA c.469_491delinsCCAGGA (p.Ser157ProfsTer?) | ClinVar dbSNP |
12 | g.114398641A>C | CA386862093 | TBX5 | c.442T>G (p.Trp148Gly) c.292T>G (p.Trp98Gly) n.493T>G c.490T>G (p.Trp164Gly) | |
12 | g.114398641A>G | CA386862091 | TBX5 | c.442T>C (p.Trp148Arg) c.292T>C (p.Trp98Arg) n.493T>C c.490T>C (p.Trp164Arg) | |
12 | g.114398641A>T | CA386862092 | TBX5 | c.442T>A (p.Trp148Arg) c.292T>A (p.Trp98Arg) n.493T>A c.490T>A (p.Trp164Arg) | |
12 | g.114398642A>C | CA386862094 | TBX5 | c.441T>G (p.His147Gln) c.291T>G (p.His97Gln) n.492T>G c.489T>G (p.His163Gln) | |
12 | g.114398642A>G | CA481920488 | TBX5 | c.441T>C (p.His147=) c.291T>C (p.His97=) n.492T>C c.489T>C (p.His163=) | gnomAD v4 |
12 | g.114398642A>T | CA386862095 | TBX5 | c.441T>A (p.His147Gln) c.291T>A (p.His97Gln) n.492T>A c.489T>A (p.His163Gln) | |
12 | g.114398643T>A | CA386862096 | TBX5 | c.440A>T (p.His147Leu) c.290A>T (p.His97Leu) n.491A>T c.488A>T (p.His163Leu) | gnomAD v4 |
12 | g.114398643T>C | CA6809610 | TBX5 | c.440A>G (p.His147Arg) c.290A>G (p.His97Arg) n.491A>G c.488A>G (p.His163Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114398643T>G | CA386862097 | TBX5 | c.440A>C (p.His147Pro) c.290A>C (p.His97Pro) n.491A>C c.488A>C (p.His163Pro) | |
12 | g.114398643T= | CA2064649603 | TBX5 | c.440A= (p.His147=) c.290A= (p.His97=) n.491A= c.488A= (p.His163=) | |
12 | g.114398644G>A | CA386862098 | TBX5 | c.439C>T (p.His147Tyr) c.289C>T (p.His97Tyr) n.490C>T c.487C>T (p.His163Tyr) | gnomAD v4 |
12 | g.114398644G>C | CA386862100 | TBX5 | c.439C>G (p.His147Asp) c.289C>G (p.His97Asp) n.490C>G c.487C>G (p.His163Asp) | |
12 | g.114398644G>T | CA386862099 | TBX5 | c.439C>A (p.His147Asn) c.289C>A (p.His97Asn) n.490C>A c.487C>A (p.His163Asn) | gnomAD v4 |
12 | g.114398645C>A | CA244127912 | TBX5 | c.438G>T (p.Ala146=) c.288G>T (p.Ala96=) n.489G>T c.486G>T (p.Ala162=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114398645C= | CA2064649605 | TBX5 | c.438G= (p.Ala146=) c.288G= (p.Ala96=) n.489G= c.486G= (p.Ala162=) | |
12 | g.114398645C>G | CA6809611 | TBX5 | c.438G>C (p.Ala146=) c.288G>C (p.Ala96=) n.489G>C c.486G>C (p.Ala162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114398645C>T | CA481920489 | TBX5 | c.438G>A (p.Ala146=) c.288G>A (p.Ala96=) n.489G>A c.486G>A (p.Ala162=) | gnomAD v4 COSMIC COSMIC |
12 | g.114398646G>A | CA386862101 | TBX5 | c.437C>T (p.Ala146Val) c.287C>T (p.Ala96Val) n.488C>T c.485C>T (p.Ala162Val) | |
12 | g.114398646G>C | CA386862102 | TBX5 | c.437C>G (p.Ala146Gly) c.287C>G (p.Ala96Gly) n.488C>G c.485C>G (p.Ala162Gly) | |
12 | g.114398646G= | CA2064649618 | TBX5 | c.437C= (p.Ala146=) c.287C= (p.Ala96=) n.488C= c.485C= (p.Ala162=) | |
12 | g.114398646G>T | CA244127916 | TBX5 | c.437C>A (p.Ala146Glu) c.287C>A (p.Ala96Glu) n.488C>A c.485C>A (p.Ala162Glu) | dbSNP |
12 | g.114398647C>A | CA386862103 | TBX5 | c.436G>T (p.Ala146Ser) c.286G>T (p.Ala96Ser) n.487G>T c.484G>T (p.Ala162Ser) | |
12 | g.114398647C= | CA2064649626 | TBX5 | c.436G= (p.Ala146=) c.286G= (p.Ala96=) n.487G= c.484G= (p.Ala162=) | |
12 | g.114398647C>G | CA386862104 | TBX5 | c.436G>C (p.Ala146Pro) c.286G>C (p.Ala96Pro) n.487G>C c.484G>C (p.Ala162Pro) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114398647C>T | CA386862105 | TBX5 | c.436G>A (p.Ala146Thr) c.286G>A (p.Ala96Thr) n.487G>A c.484G>A (p.Ala162Thr) | |
12 | g.114398650dup | CA2838261506 | TBX5 | c.436dup (p.Ala146GlyfsTer?) c.286dup (p.Ala96GlyfsTer?) n.487dup c.484dup (p.Ala162GlyfsTer?) | |
12 | g.114398650del | CA2573334465 | TBX5 | c.436del (p.Ala146ArgfsTer4) c.286del (p.Ala96ArgfsTer4) n.487del c.484del (p.Ala162ArgfsTer4) | ClinVar |
12 | g.114398648C>A | CA481920490 | TBX5 | c.435G>T (p.Gly145=) c.285G>T (p.Gly95=) n.486G>T c.483G>T (p.Gly161=) | |
12 | g.114398648C= | CA2064649629 | TBX5 | c.435G= (p.Gly145=) c.285G= (p.Gly95=) n.486G= c.483G= (p.Gly161=) | |
12 | g.114398648C>G | CA481920491 | TBX5 | c.435G>C (p.Gly145=) c.285G>C (p.Gly95=) n.486G>C c.483G>C (p.Gly161=) | |
12 | g.114398648C>T | CA6809612 | TBX5 | c.435G>A (p.Gly145=) c.285G>A (p.Gly95=) n.486G>A c.483G>A (p.Gly161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.114398649C>A | CA386862106 | TBX5 | c.434G>T (p.Gly145Val) c.284G>T (p.Gly95Val) n.485G>T c.482G>T (p.Gly161Val) | |
12 | g.114398649C>G | CA386862107 | TBX5 | c.434G>C (p.Gly145Ala) c.284G>C (p.Gly95Ala) n.485G>C c.482G>C (p.Gly161Ala) | gnomAD v4 |
12 | g.114398649C>T | CA386862108 | TBX5 | c.434G>A (p.Gly145Glu) c.284G>A (p.Gly95Glu) n.485G>A c.482G>A (p.Gly161Glu) | |
12 | g.114398650C>A | CA320659 | TBX5 | c.433G>T (p.Gly145Trp) c.283G>T (p.Gly95Trp) n.484G>T c.481G>T (p.Gly161Trp) | dbSNP |
12 | g.114398650C= | CA2064649634 | TBX5 | c.433G= (p.Gly145=) c.283G= (p.Gly95=) n.484G= c.481G= (p.Gly161=) | |
12 | g.114398650C>G | CA386862110 | TBX5 | c.433G>C (p.Gly145Arg) c.283G>C (p.Gly95Arg) n.484G>C c.481G>C (p.Gly161Arg) | gnomAD v4 |
12 | g.114398650C>T | CA386862109 | TBX5 | c.433G>A (p.Gly145Arg) c.283G>A (p.Gly95Arg) n.484G>A c.481G>A (p.Gly161Arg) | ClinVar dbSNP gnomAD v4 |
12 | g.114398650_114398663delinsCGGTGGCGGGGGAG | CA2064649636 | TBX5 | c.420_433delinsCTCCCCCGCCACCG (p.Asp140=) c.270_283delinsCTCCCCCGCCACCG (p.Asp90=) n.471_484delinsCTCCCCCGCCACCG c.468_481delinsCTCCCCCGCCACCG (p.Asp156=) | |
12 | g.114398651G>A | CA6809614 | TBX5 | c.432C>T (p.Thr144=) c.282C>T (p.Thr94=) n.483C>T c.480C>T (p.Thr160=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114398651G>C | CA481920492 | TBX5 | c.432C>G (p.Thr144=) c.282C>G (p.Thr94=) n.483C>G c.480C>G (p.Thr160=) | gnomAD v4 |
12 | g.114398651G= | CA2064649662 | TBX5 | c.432C= (p.Thr144=) c.282C= (p.Thr94=) n.483C= c.480C= (p.Thr160=) | |
12 | g.114398651G>T | CA6809613 | TBX5 | c.432C>A (p.Thr144=) c.282C>A (p.Thr94=) n.483C>A c.480C>A (p.Thr160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114398652dup | CA658797966 | TBX5 | c.432dup (p.Gly145ArgfsTer?) c.282dup (p.Gly95ArgfsTer?) n.483dup c.480dup (p.Gly161ArgfsTer?) | ClinVar dbSNP |
12 | g.114398651_114398663del | CA322170 | TBX5 | c.420_432del (p.Asp140GlufsTer6) c.270_282del (p.Asp90GlufsTer6) n.471_483del c.468_480del (p.Asp156GlufsTer6) | ClinVar dbSNP |
12 | g.114398652G>A | CA386862111 | TBX5 | c.431C>T (p.Thr144Ile) c.281C>T (p.Thr94Ile) n.482C>T c.479C>T (p.Thr160Ile) | |
12 | g.114398652G>C | CA386862112 | TBX5 | c.431C>G (p.Thr144Ser) c.281C>G (p.Thr94Ser) n.482C>G c.479C>G (p.Thr160Ser) | gnomAD v4 |
12 | g.114398652G>T | CA386862113 | TBX5 | c.431C>A (p.Thr144Asn) c.281C>A (p.Thr94Asn) n.482C>A c.479C>A (p.Thr160Asn) | |
12 | g.114398653T>A | CA386862114 | TBX5 | c.430A>T (p.Thr144Ser) c.280A>T (p.Thr94Ser) n.481A>T c.478A>T (p.Thr160Ser) | gnomAD v4 |
12 | g.114398653T>C | CA386862115 | TBX5 | c.430A>G (p.Thr144Ala) c.280A>G (p.Thr94Ala) n.481A>G c.478A>G (p.Thr160Ala) | |
12 | g.114398653T>G | CA386862116 | TBX5 | c.430A>C (p.Thr144Pro) c.280A>C (p.Thr94Pro) n.481A>C c.478A>C (p.Thr160Pro) | |
12 | g.114398654G>A | CA481920495 | TBX5 | c.429C>T (p.Ala143=) c.279C>T (p.Ala93=) n.480C>T c.477C>T (p.Ala159=) | dbSNP gnomAD v2 |
12 | g.114398654G>C | CA481920494 | TBX5 | c.429C>G (p.Ala143=) c.279C>G (p.Ala93=) n.480C>G c.477C>G (p.Ala159=) | |
12 | g.114398654G= | CA2064649670 | TBX5 | c.429C= (p.Ala143=) c.279C= (p.Ala93=) n.480C= c.477C= (p.Ala159=) | |
12 | g.114398654G>T | CA481920493 | TBX5 | c.429C>A (p.Ala143=) c.279C>A (p.Ala93=) n.480C>A c.477C>A (p.Ala159=) | |
12 | g.114398655G>A | CA386862117 | TBX5 | c.428C>T (p.Ala143Val) c.278C>T (p.Ala93Val) n.479C>T c.476C>T (p.Ala159Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.114398655G>C | CA386862118 | TBX5 | c.428C>G (p.Ala143Gly) c.278C>G (p.Ala93Gly) n.479C>G c.476C>G (p.Ala159Gly) | |
12 | g.114398655G= | CA2064649673 | TBX5 | c.428C= (p.Ala143=) c.278C= (p.Ala93=) n.479C= c.476C= (p.Ala159=) | |
12 | g.114398655G>T | CA386862119 | TBX5 | c.428C>A (p.Ala143Asp) c.278C>A (p.Ala93Asp) n.479C>A c.476C>A (p.Ala159Asp) | |
12 | g.114398656C>A | CA386862120 | TBX5 | c.427G>T (p.Ala143Ser) c.277G>T (p.Ala93Ser) n.478G>T c.475G>T (p.Ala159Ser) | |
12 | g.114398656C= | CA2064649676 | TBX5 | c.427G= (p.Ala143=) c.277G= (p.Ala93=) n.478G= c.475G= (p.Ala159=) | |
12 | g.114398656C>G | CA386862121 | TBX5 | c.427G>C (p.Ala143Pro) c.277G>C (p.Ala93Pro) n.478G>C c.475G>C (p.Ala159Pro) | |
12 | g.114398656C>T | CA244127960 | TBX5 | c.427G>A (p.Ala143Thr) c.277G>A (p.Ala93Thr) n.478G>A c.475G>A (p.Ala159Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.114398657G>A | CA481920496 | TBX5 | c.426C>T (p.Pro142=) c.276C>T (p.Pro92=) n.477C>T c.474C>T (p.Pro158=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.114398657G>C | CA481920498 | TBX5 | c.426C>G (p.Pro142=) c.276C>G (p.Pro92=) n.477C>G c.474C>G (p.Pro158=) | gnomAD v4 |
12 | g.114398657G= | CA2064649682 | TBX5 | c.426C= (p.Pro142=) c.276C= (p.Pro92=) n.477C= c.474C= (p.Pro158=) | |
12 | g.114398657G>T | CA481920497 | TBX5 | c.426C>A (p.Pro142=) c.276C>A (p.Pro92=) n.477C>A c.474C>A (p.Pro158=) | |
12 | g.114398661dup | CA2695217403 | TBX5 | c.426dup (p.Ala143ArgfsTer?) c.276dup (p.Ala93ArgfsTer?) n.477dup c.474dup (p.Ala159ArgfsTer?) | |
12 | g.114398661del | CA913191203 | TBX5 | c.426del (p.Ala143ProfsTer7) c.276del (p.Ala93ProfsTer7) n.477del c.474del (p.Ala159ProfsTer7) | ClinVar |
12 | g.114398658G>A | CA386862124 | TBX5 | c.425C>T (p.Pro142Leu) c.275C>T (p.Pro92Leu) n.476C>T c.473C>T (p.Pro158Leu) | |
12 | g.114398658G>C | CA386862122 | TBX5 | c.425C>G (p.Pro142Arg) c.275C>G (p.Pro92Arg) n.476C>G c.473C>G (p.Pro158Arg) | |
12 | g.114398658G>T | CA386862123 | TBX5 | c.425C>A (p.Pro142His) c.275C>A (p.Pro92His) n.476C>A c.473C>A (p.Pro158His) | |
12 | g.114398659G>A | CA386862125 | TBX5 | c.424C>T (p.Pro142Ser) c.274C>T (p.Pro92Ser) n.475C>T c.472C>T (p.Pro158Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114398659G>C | CA386862126 | TBX5 | c.424C>G (p.Pro142Ala) c.274C>G (p.Pro92Ala) n.475C>G c.472C>G (p.Pro158Ala) | |
12 | g.114398659G= | CA2064649687 | TBX5 | c.424C= (p.Pro142=) c.274C= (p.Pro92=) n.475C= c.472C= (p.Pro158=) | |
12 | g.114398659G>T | CA386862127 | TBX5 | c.424C>A (p.Pro142Thr) c.274C>A (p.Pro92Thr) n.475C>A c.472C>A (p.Pro158Thr) | |
12 | g.114398660G>A | CA481920499 | TBX5 | c.423C>T (p.Ser141=) c.273C>T (p.Ser91=) n.474C>T c.471C>T (p.Ser157=) | |
12 | g.114398660G>C | CA481920500 | TBX5 | c.423C>G (p.Ser141=) c.273C>G (p.Ser91=) n.474C>G c.471C>G (p.Ser157=) | |
12 | g.114398660G>T | CA481920501 | TBX5 | c.423C>A (p.Ser141=) c.273C>A (p.Ser91=) n.474C>A c.471C>A (p.Ser157=) | |
12 | g.114398661G>A | CA386862128 | TBX5 | c.422C>T (p.Ser141Phe) c.272C>T (p.Ser91Phe) n.473C>T c.470C>T (p.Ser157Phe) | |
12 | g.114398661G>C | CA386862129 | TBX5 | c.422C>G (p.Ser141Cys) c.272C>G (p.Ser91Cys) n.473C>G c.470C>G (p.Ser157Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.114398661G= | CA2064649688 | TBX5 | c.422C= (p.Ser141=) c.272C= (p.Ser91=) n.473C= c.470C= (p.Ser157=) | |
12 | g.114398661G>T | CA386862130 | TBX5 | c.422C>A (p.Ser141Tyr) c.272C>A (p.Ser91Tyr) n.473C>A c.470C>A (p.Ser157Tyr) | ClinVar dbSNP gnomAD v4 |
12 | g.114398662A>C | CA386862131 | TBX5 | c.421T>G (p.Ser141Ala) c.271T>G (p.Ser91Ala) n.472T>G c.469T>G (p.Ser157Ala) | |
12 | g.114398662A>G | CA386862132 | TBX5 | c.421T>C (p.Ser141Pro) c.271T>C (p.Ser91Pro) n.472T>C c.469T>C (p.Ser157Pro) | |
12 | g.114398662A>T | CA386862133 | TBX5 | c.421T>A (p.Ser141Thr) c.271T>A (p.Ser91Thr) n.472T>A c.469T>A (p.Ser157Thr) | |
12 | g.114398663G>A | CA481920502 | TBX5 | c.420C>T (p.Asp140=) c.270C>T (p.Asp90=) n.471C>T c.468C>T (p.Asp156=) | dbSNP |
12 | g.114398663G>C | CA6809615 | TBX5 | c.420C>G (p.Asp140Glu) c.270C>G (p.Asp90Glu) n.471C>G c.468C>G (p.Asp156Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114398663G= | CA2064649691 | TBX5 | c.420C= (p.Asp140=) c.270C= (p.Asp90=) n.471C= c.468C= (p.Asp156=) | |
12 | g.114398663G>T | CA386862134 | TBX5 | c.420C>A (p.Asp140Glu) c.270C>A (p.Asp90Glu) n.471C>A c.468C>A (p.Asp156Glu) | gnomAD v4 |
12 | g.114398664T>A | CA386862137 | TBX5 | c.419A>T (p.Asp140Val) c.269A>T (p.Asp90Val) n.470A>T c.467A>T (p.Asp156Val) | |
12 | g.114398664T>C | CA386862136 | TBX5 | c.419A>G (p.Asp140Gly) c.269A>G (p.Asp90Gly) n.470A>G c.467A>G (p.Asp156Gly) | gnomAD v4 |
12 | g.114398664T>G | CA386862135 | TBX5 | c.419A>C (p.Asp140Ala) c.269A>C (p.Asp90Ala) n.470A>C c.467A>C (p.Asp156Ala) | dbSNP |
12 | g.114398664T= | CA2064649696 | TBX5 | c.419A= (p.Asp140=) c.269A= (p.Asp90=) n.470A= c.467A= (p.Asp156=) | |
12 | g.114398665C>A | CA386862138 | TBX5 | c.418G>T (p.Asp140Tyr) c.268G>T (p.Asp90Tyr) n.469G>T c.466G>T (p.Asp156Tyr) | |
12 | g.114398665C>G | CA386862139 | TBX5 | c.418G>C (p.Asp140His) c.268G>C (p.Asp90His) n.469G>C c.466G>C (p.Asp156His) | |
12 | g.114398665C>T | CA386862140 | TBX5 | c.418G>A (p.Asp140Asn) c.268G>A (p.Asp90Asn) n.469G>A c.466G>A (p.Asp156Asn) | |
12 | g.114398666T>A | CA481920503 | TBX5 | c.417A>T (p.Pro139=) c.267A>T (p.Pro89=) n.468A>T c.465A>T (p.Pro155=) | |
12 | g.114398666T>C | CA481920504 | TBX5 | c.417A>G (p.Pro139=) c.267A>G (p.Pro89=) n.468A>G c.465A>G (p.Pro155=) | |
12 | g.114398666T>G | CA481920505 | TBX5 | c.417A>C (p.Pro139=) c.267A>C (p.Pro89=) n.468A>C c.465A>C (p.Pro155=) | |
12 | g.114398666_114398667delinsTG | CA2064649698 | TBX5 | c.416_417delinsCA (p.Pro139=) c.266_267delinsCA (p.Pro89=) n.467_468delinsCA c.464_465delinsCA (p.Pro155=) | |
12 | g.114398667G>A | CA386862141 | TBX5 | c.416C>T (p.Pro139Leu) c.266C>T (p.Pro89Leu) n.467C>T c.464C>T (p.Pro155Leu) | gnomAD v4 |
12 | g.114398667G>C | CA386862142 | TBX5 | c.416C>G (p.Pro139Arg) c.266C>G (p.Pro89Arg) n.467C>G c.464C>G (p.Pro155Arg) | |
12 | g.114398667G>T | CA386862143 | TBX5 | c.416C>A (p.Pro139Gln) c.266C>A (p.Pro89Gln) n.467C>A c.464C>A (p.Pro155Gln) | |
12 | g.114398669del | CA913184829 | TBX5 | c.416del (p.Pro139GlnfsTer11) c.266del (p.Pro89GlnfsTer11) n.467del c.464del (p.Pro155GlnfsTer11) | ClinVar dbSNP |
12 | g.114398668G>A | CA386862146 | TBX5 | c.415C>T (p.Pro139Ser) c.265C>T (p.Pro89Ser) n.466C>T c.463C>T (p.Pro155Ser) | |
12 | g.114398668G>C | CA386862144 | TBX5 | c.415C>G (p.Pro139Ala) c.265C>G (p.Pro89Ala) n.466C>G c.463C>G (p.Pro155Ala) | COSMIC COSMIC |
12 | g.114398668G= | CA2064649710 | TBX5 | c.415C= (p.Pro139=) c.265C= (p.Pro89=) n.466C= c.463C= (p.Pro155=) | |
12 | g.114398668G>T | CA386862145 | TBX5 | c.415C>A (p.Pro139Thr) c.265C>A (p.Pro89Thr) n.466C>A c.463C>A (p.Pro155Thr) | dbSNP |
12 | g.114398669G>A | CA481920506 | TBX5 | c.414C>T (p.His138=) c.264C>T (p.His88=) n.465C>T c.462C>T (p.His154=) | gnomAD v4 |
12 | g.114398669G>C | CA386862147 | TBX5 | c.414C>G (p.His138Gln) c.264C>G (p.His88Gln) n.465C>G c.462C>G (p.His154Gln) | |
12 | g.114398669G>T | CA386862148 | TBX5 | c.414C>A (p.His138Gln) c.264C>A (p.His88Gln) n.465C>A c.462C>A (p.His154Gln) | |
12 | g.114398670T>A | CA386862149 | TBX5 | c.413A>T (p.His138Leu) c.263A>T (p.His88Leu) n.464A>T c.461A>T (p.His154Leu) | |
12 | g.114398670T>C | CA386862150 | TBX5 | c.413A>G (p.His138Arg) c.263A>G (p.His88Arg) n.464A>G c.461A>G (p.His154Arg) | |
12 | g.114398670T>G | CA386862151 | TBX5 | c.413A>C (p.His138Pro) c.263A>C (p.His88Pro) n.464A>C c.461A>C (p.His154Pro) | |
12 | g.114398671G>A | CA386862152 | TBX5 | c.412C>T (p.His138Tyr) c.262C>T (p.His88Tyr) n.463C>T c.460C>T (p.His154Tyr) | gnomAD v4 |
12 | g.114398671G>C | CA386862154 | TBX5 | c.412C>G (p.His138Asp) c.262C>G (p.His88Asp) n.463C>G c.460C>G (p.His154Asp) | |
12 | g.114398671G>T | CA386862153 | TBX5 | c.412C>A (p.His138Asn) c.262C>A (p.His88Asn) n.463C>A c.460C>A (p.His154Asn) | |
12 | g.114398672C>A | CA481920507 | TBX5 | c.411G>T (p.Val137=) c.261G>T (p.Val87=) n.462G>T c.459G>T (p.Val153=) | |
12 | g.114398672C>G | CA481920508 | TBX5 | c.411G>C (p.Val137=) c.261G>C (p.Val87=) n.462G>C c.459G>C (p.Val153=) | |
12 | g.114398672C>T | CA481920509 | TBX5 | c.411G>A (p.Val137=) c.261G>A (p.Val87=) n.462G>A c.459G>A (p.Val153=) | |
12 | g.114398673A= | CA2064649716 | TBX5 | c.410T= (p.Val137=) c.260T= (p.Val87=) n.461T= c.458T= (p.Val153=) | |
12 | g.114398673A>C | CA386862155 | TBX5 | c.410T>G (p.Val137Gly) c.260T>G (p.Val87Gly) n.461T>G c.458T>G (p.Val153Gly) | |
12 | g.114398673A>G | CA386862156 | TBX5 | c.410T>C (p.Val137Ala) c.260T>C (p.Val87Ala) n.461T>C c.458T>C (p.Val153Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114398673A>T | CA386862157 | TBX5 | c.410T>A (p.Val137Glu) c.260T>A (p.Val87Glu) n.461T>A c.458T>A (p.Val153Glu) | |
12 | g.114398674C>A | CA386862158 | TBX5 | c.409G>T (p.Val137Leu) c.259G>T (p.Val87Leu) n.460G>T c.457G>T (p.Val153Leu) | |
12 | g.114398674C= | CA2064649719 | TBX5 | c.409G= (p.Val137=) c.259G= (p.Val87=) n.460G= c.457G= (p.Val153=) | |
12 | g.114398674C>G | CA386862159 | TBX5 | c.409G>C (p.Val137Leu) c.259G>C (p.Val87Leu) n.460G>C c.457G>C (p.Val153Leu) | gnomAD v4 |
12 | g.114398674C>T | CA6809616 | TBX5 | c.409G>A (p.Val137Met) c.259G>A (p.Val87Met) n.460G>A c.457G>A (p.Val153Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.114398675G>A | CA244127973 | TBX5 | c.408C>T (p.Tyr136=) c.258C>T (p.Tyr86=) n.459C>T c.456C>T (p.Tyr152=) | ClinVar dbSNP gnomAD v4 |
12 | g.114398675G>C | CA386862160 | TBX5 | c.408C>G (p.Tyr136Ter) c.258C>G (p.Tyr86Ter) n.459C>G c.456C>G (p.Tyr152Ter) | ClinVar dbSNP |
12 | g.114398675G= | CA2064649734 | TBX5 | c.408C= (p.Tyr136=) c.258C= (p.Tyr86=) n.459C= c.456C= (p.Tyr152=) | |
12 | g.114398675G>T | CA254306 | TBX5 | c.408C>A (p.Tyr136Ter) c.258C>A (p.Tyr86Ter) n.459C>A c.456C>A (p.Tyr152Ter) | ClinVar dbSNP |
12 | g.114398676T>A | CA386862161 | TBX5 | c.407A>T (p.Tyr136Phe) c.257A>T (p.Tyr86Phe) n.458A>T c.455A>T (p.Tyr152Phe) | gnomAD v4 |
12 | g.114398676T>C | CA386862162 | TBX5 | c.407A>G (p.Tyr136Cys) c.257A>G (p.Tyr86Cys) n.458A>G c.455A>G (p.Tyr152Cys) | dbSNP |
12 | g.114398676T>G | CA386862163 | TBX5 | c.407A>C (p.Tyr136Ser) c.257A>C (p.Tyr86Ser) n.458A>C c.455A>C (p.Tyr152Ser) | |
12 | g.114398676T= | CA2064649749 | TBX5 | c.407A= (p.Tyr136=) c.257A= (p.Tyr86=) n.458A= c.455A= (p.Tyr152=) | |
12 | g.114398677A>C | CA386862164 | TBX5 | c.406T>G (p.Tyr136Asp) c.256T>G (p.Tyr86Asp) n.457T>G c.454T>G (p.Tyr152Asp) | |
12 | g.114398677A>G | CA386862166 | TBX5 | c.406T>C (p.Tyr136His) c.256T>C (p.Tyr86His) n.457T>C c.454T>C (p.Tyr152His) | gnomAD v4 |
12 | g.114398677A>T | CA386862165 | TBX5 | c.406T>A (p.Tyr136Asn) c.256T>A (p.Tyr86Asn) n.457T>A c.454T>A (p.Tyr152Asn) | |
12 | g.114398678C>A | CA481920512 | TBX5 | c.405G>T (p.Leu135=) c.255G>T (p.Leu85=) n.456G>T c.453G>T (p.Leu151=) | |
12 | g.114398678C>G | CA481920511 | TBX5 | c.405G>C (p.Leu135=) c.255G>C (p.Leu85=) n.456G>C c.453G>C (p.Leu151=) | |
12 | g.114398678C>T | CA481920510 | TBX5 | c.405G>A (p.Leu135=) c.255G>A (p.Leu85=) n.456G>A c.453G>A (p.Leu151=) | |
12 | g.114398679A= | CA2064649757 | TBX5 | c.404T= (p.Leu135=) c.254T= (p.Leu85=) n.455T= c.452T= (p.Leu151=) | |
12 | g.114398679A>C | CA16044038 | TBX5 | c.404T>G (p.Leu135Arg) c.254T>G (p.Leu85Arg) n.455T>G c.452T>G (p.Leu151Arg) | ClinVar dbSNP |
12 | g.114398679A>G | CA386862167 | TBX5 | c.404T>C (p.Leu135Pro) c.254T>C (p.Leu85Pro) n.455T>C c.452T>C (p.Leu151Pro) | |
12 | g.114398679A>T | CA386862168 | TBX5 | c.404T>A (p.Leu135Gln) c.254T>A (p.Leu85Gln) n.455T>A c.452T>A (p.Leu151Gln) | |
12 | g.114398680G>A | CA481920513 | TBX5 | c.403C>T (p.Leu135=) c.253C>T (p.Leu85=) n.454C>T c.451C>T (p.Leu151=) | |
12 | g.114398680G>C | CA386862169 | TBX5 | c.403C>G (p.Leu135Val) c.253C>G (p.Leu85Val) n.454C>G c.451C>G (p.Leu151Val) | |
12 | g.114398680G>T | CA386862170 | TBX5 | c.403C>A (p.Leu135Met) c.253C>A (p.Leu85Met) n.454C>A c.451C>A (p.Leu151Met) | |
12 | g.114398680_114398707delinsGGCGGCCAGGCATGGCGGGCTCAGCTTT | CA2064649762 | TBX5 | c.376_403delinsAAAGCTGAGCCCGCCATGCCTGGCCGCC (p.Lys126=) c.226_253delinsAAAGCTGAGCCCGCCATGCCTGGCCGCC (p.Lys76=) n.427_454delinsAAAGCTGAGCCCGCCATGCCTGGCCGCC c.424_451delinsAAAGCTGAGCCCGCCATGCCTGGCCGCC (p.Lys142=) | |
12 | g.114398681G>A | CA481920514 | TBX5 | c.402C>T (p.Arg134=) c.252C>T (p.Arg84=) n.453C>T c.450C>T (p.Arg150=) | dbSNP |
12 | g.114398681G>C | CA481920515 | TBX5 | c.402C>G (p.Arg134=) c.252C>G (p.Arg84=) n.453C>G c.450C>G (p.Arg150=) | |
12 | g.114398681G= | CA2064649775 | TBX5 | c.402C= (p.Arg134=) c.252C= (p.Arg84=) n.453C= c.450C= (p.Arg150=) | |
12 | g.114398681G>T | CA481920516 | TBX5 | c.402C>A (p.Arg134=) c.252C>A (p.Arg84=) n.453C>A c.450C>A (p.Arg150=) | COSMIC COSMIC |
12 | g.114398683_114398709del | CA319857 | TBX5 | c.376_402del (p.Lys126_Arg134del) c.226_252del (p.Lys76_Arg84del) n.427_453del c.424_450del (p.Lys142_Arg150del) | ClinVar dbSNP |
12 | g.114398682C>A | CA386862173 | TBX5 | c.401G>T (p.Arg134Leu) c.251G>T (p.Arg84Leu) n.452G>T c.449G>T (p.Arg150Leu) | ClinVar |
12 | g.114398682C>G | CA386862172 | TBX5 | c.401G>C (p.Arg134Pro) c.251G>C (p.Arg84Pro) n.452G>C c.449G>C (p.Arg150Pro) | ClinVar |
12 | g.114398682C>T | CA386862171 | TBX5 | c.401G>A (p.Arg134His) c.251G>A (p.Arg84His) n.452G>A c.449G>A (p.Arg150His) | ClinVar |
12 | g.114398682_114398683delinsCG | CA2064649782 | TBX5 | c.400_401delinsCG (p.Arg134=) c.250_251delinsCG (p.Arg84=) n.451_452delinsCG c.448_449delinsCG (p.Arg150=) | |
12 | g.114398683G>A | CA386862174 | TBX5 | c.400C>T (p.Arg134Cys) c.250C>T (p.Arg84Cys) n.451C>T c.448C>T (p.Arg150Cys) | |
12 | g.114398683G>C | CA386862175 | TBX5 | c.400C>G (p.Arg134Gly) c.250C>G (p.Arg84Gly) n.451C>G c.448C>G (p.Arg150Gly) | |
12 | g.114398683G>T | CA386862176 | TBX5 | c.400C>A (p.Arg134Ser) c.250C>A (p.Arg84Ser) n.451C>A c.448C>A (p.Arg150Ser) | |
12 | g.114398684dup | CA2695217404 | TBX5 | c.400dup (p.Arg134ProfsTer?) c.250dup (p.Arg84ProfsTer?) n.451dup c.448dup (p.Arg150ProfsTer?) | |
12 | g.114398684del | CA683862762 | TBX5 | c.400del (p.Arg134AlafsTer16) c.250del (p.Arg84AlafsTer16) n.451del c.448del (p.Arg150AlafsTer16) | ClinVar dbSNP |
12 | g.114398684G>A | CA481920517 | TBX5 | c.399C>T (p.Gly133=) c.249C>T (p.Gly83=) n.450C>T c.447C>T (p.Gly149=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114398684G>C | CA481920519 | TBX5 | c.399C>G (p.Gly133=) c.249C>G (p.Gly83=) n.450C>G c.447C>G (p.Gly149=) | |
12 | g.114398684G= | CA2064649792 | TBX5 | c.399C= (p.Gly133=) c.249C= (p.Gly83=) n.450C= c.447C= (p.Gly149=) | |
12 | g.114398684G>T | CA481920518 | TBX5 | c.399C>A (p.Gly133=) c.249C>A (p.Gly83=) n.450C>A c.447C>A (p.Gly149=) | gnomAD v4 |
12 | g.114398685C>A | CA386862177 | TBX5 | c.398G>T (p.Gly133Val) c.248G>T (p.Gly83Val) n.449G>T c.446G>T (p.Gly149Val) | |
12 | g.114398685C>G | CA386862178 | TBX5 | c.398G>C (p.Gly133Ala) c.248G>C (p.Gly83Ala) n.449G>C c.446G>C (p.Gly149Ala) | dbSNP |
12 | g.114398685C>T | CA386862179 | TBX5 | c.398G>A (p.Gly133Asp) c.248G>A (p.Gly83Asp) n.449G>A c.446G>A (p.Gly149Asp) | |
12 | g.114398686C>A | CA386862180 | TBX5 | c.397G>T (p.Gly133Cys) c.247G>T (p.Gly83Cys) n.448G>T c.445G>T (p.Gly149Cys) | dbSNP |
12 | g.114398686C= | CA2064649796 | TBX5 | c.397G= (p.Gly133=) c.247G= (p.Gly83=) n.448G= c.445G= (p.Gly149=) | |
12 | g.114398686C>G | CA386862182 | TBX5 | c.397G>C (p.Gly133Arg) c.247G>C (p.Gly83Arg) n.448G>C c.445G>C (p.Gly149Arg) | |
12 | g.114398686C>T | CA386862181 | TBX5 | c.397G>A (p.Gly133Ser) c.247G>A (p.Gly83Ser) n.448G>A c.445G>A (p.Gly149Ser) | |
12 | g.114398687A>C | CA481920520 | TBX5 | c.396T>G (p.Pro132=) c.246T>G (p.Pro82=) n.447T>G c.444T>G (p.Pro148=) | |
12 | g.114398687A>G | CA481920521 | TBX5 | c.396T>C (p.Pro132=) c.246T>C (p.Pro82=) n.447T>C c.444T>C (p.Pro148=) | |
12 | g.114398687A>T | CA481920522 | TBX5 | c.396T>A (p.Pro132=) c.246T>A (p.Pro82=) n.447T>A c.444T>A (p.Pro148=) | |
12 | g.114398688G>A | CA386862183 | TBX5 | c.395C>T (p.Pro132Leu) c.245C>T (p.Pro82Leu) n.446C>T c.443C>T (p.Pro148Leu) | |
12 | g.114398688G>C | CA386862184 | TBX5 | c.395C>G (p.Pro132Arg) c.245C>G (p.Pro82Arg) n.446C>G c.443C>G (p.Pro148Arg) | |
12 | g.114398688G>T | CA386862185 | TBX5 | c.395C>A (p.Pro132His) c.245C>A (p.Pro82His) n.446C>A c.443C>A (p.Pro148His) | |
12 | g.114398689G>A | CA386862186 | TBX5 | c.394C>T (p.Pro132Ser) c.244C>T (p.Pro82Ser) n.445C>T c.442C>T (p.Pro148Ser) | |
12 | g.114398689G>C | CA386862187 | TBX5 | c.394C>G (p.Pro132Ala) c.244C>G (p.Pro82Ala) n.445C>G c.442C>G (p.Pro148Ala) | |
12 | g.114398689G>T | CA386862188 | TBX5 | c.394C>A (p.Pro132Thr) c.244C>A (p.Pro82Thr) n.445C>A c.442C>A (p.Pro148Thr) | ClinVar |
12 | g.114398690C>A | CA386862189 | TBX5 | c.393G>T (p.Met131Ile) c.243G>T (p.Met81Ile) n.444G>T c.441G>T (p.Met147Ile) | |
12 | g.114398690C>G | CA386862190 | TBX5 | c.393G>C (p.Met131Ile) c.243G>C (p.Met81Ile) n.444G>C c.441G>C (p.Met147Ile) | |
12 | g.114398690C>T | CA386862191 | TBX5 | c.393G>A (p.Met131Ile) c.243G>A (p.Met81Ile) n.444G>A c.441G>A (p.Met147Ile) | |
12 | g.114398691A>C | CA386862192 | TBX5 | c.392T>G (p.Met131Arg) c.242T>G (p.Met81Arg) n.443T>G c.440T>G (p.Met147Arg) | |
12 | g.114398691A>G | CA386862193 | TBX5 | c.392T>C (p.Met131Thr) c.242T>C (p.Met81Thr) n.443T>C c.440T>C (p.Met147Thr) | |
12 | g.114398691A>T | CA386862194 | TBX5 | c.392T>A (p.Met131Lys) c.242T>A (p.Met81Lys) n.443T>A c.440T>A (p.Met147Lys) |