Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.114398583G>A | CA386861959 | TBX5 | c.500C>T (p.Pro167Leu) c.350C>T (p.Pro117Leu) n.551C>T c.548C>T (p.Pro183Leu) | |
12 | g.114398583G>C | CA386861958 | TBX5 | c.500C>G (p.Pro167Arg) c.350C>G (p.Pro117Arg) n.551C>G c.548C>G (p.Pro183Arg) | |
12 | g.114398583G>T | CA386861957 | TBX5 | c.500C>A (p.Pro167Gln) c.350C>A (p.Pro117Gln) n.551C>A c.548C>A (p.Pro183Gln) | |
12 | g.114398585del | CA913191200 | TBX5 | c.500del (p.Pro167HisfsTer7) c.350del (p.Pro117HisfsTer7) n.551del c.548del (p.Pro183HisfsTer7) | ClinVar |
12 | g.114398584G>A | CA386861960 | TBX5 | c.499C>T (p.Pro167Ser) c.349C>T (p.Pro117Ser) n.550C>T c.547C>T (p.Pro183Ser) | dbSNP |
12 | g.114398584G>C | CA386861961 | TBX5 | c.499C>G (p.Pro167Ala) c.349C>G (p.Pro117Ala) n.550C>G c.547C>G (p.Pro183Ala) | |
12 | g.114398584G>T | CA386861962 | TBX5 | c.499C>A (p.Pro167Thr) c.349C>A (p.Pro117Thr) n.550C>A c.547C>A (p.Pro183Thr) | |
12 | g.114398585G>A | CA481920462 | TBX5 | c.498C>T (p.Asp166=) c.348C>T (p.Asp116=) n.549C>T c.546C>T (p.Asp182=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.114398585G>C | CA386861963 | TBX5 | c.498C>G (p.Asp166Glu) c.348C>G (p.Asp116Glu) n.549C>G c.546C>G (p.Asp182Glu) | |
12 | g.114398585G= | CA2064649347 | TBX5 | c.498C= (p.Asp166=) c.348C= (p.Asp116=) n.549C= c.546C= (p.Asp182=) | |
12 | g.114398585G>T | CA386861964 | TBX5 | c.498C>A (p.Asp166Glu) c.348C>A (p.Asp116Glu) n.549C>A c.546C>A (p.Asp182Glu) | gnomAD v4 COSMIC COSMIC |
12 | g.114398586T>A | CA386861965 | TBX5 | c.497A>T (p.Asp166Val) c.347A>T (p.Asp116Val) n.548A>T c.545A>T (p.Asp182Val) | |
12 | g.114398586T>C | CA386861966 | TBX5 | c.497A>G (p.Asp166Gly) c.347A>G (p.Asp116Gly) n.548A>G c.545A>G (p.Asp182Gly) | |
12 | g.114398586T>G | CA386861967 | TBX5 | c.497A>C (p.Asp166Ala) c.347A>C (p.Asp116Ala) n.548A>C c.545A>C (p.Asp182Ala) | |
12 | g.114398587C>A | CA386861968 | TBX5 | c.496G>T (p.Asp166Tyr) c.346G>T (p.Asp116Tyr) n.547G>T c.544G>T (p.Asp182Tyr) | |
12 | g.114398587C>G | CA386861969 | TBX5 | c.496G>C (p.Asp166His) c.346G>C (p.Asp116His) n.547G>C c.544G>C (p.Asp182His) | |
12 | g.114398587C>T | CA386861970 | TBX5 | c.496G>A (p.Asp166Asn) c.346G>A (p.Asp116Asn) n.547G>A c.544G>A (p.Asp182Asn) | gnomAD v4 |
12 | g.114398588del | CA913191201 | TBX5 | c.496del (p.Asp166ThrfsTer8) c.346del (p.Asp116ThrfsTer8) n.547del c.544del (p.Asp182ThrfsTer8) | ClinVar |
12 | g.114398588C>A | CA481920463 | TBX5 | c.495G>T (p.Leu165=) c.345G>T (p.Leu115=) n.546G>T c.543G>T (p.Leu181=) | |
12 | g.114398588C>G | CA481920464 | TBX5 | c.495G>C (p.Leu165=) c.345G>C (p.Leu115=) n.546G>C c.543G>C (p.Leu181=) | |
12 | g.114398588C>T | CA481920465 | TBX5 | c.495G>A (p.Leu165=) c.345G>A (p.Leu115=) n.546G>A c.543G>A (p.Leu181=) | |
12 | g.114398589A>C | CA386861973 | TBX5 | c.494T>G (p.Leu165Arg) c.344T>G (p.Leu115Arg) n.545T>G c.542T>G (p.Leu181Arg) | |
12 | g.114398589A>G | CA386861972 | TBX5 | c.494T>C (p.Leu165Pro) c.344T>C (p.Leu115Pro) n.545T>C c.542T>C (p.Leu181Pro) | |
12 | g.114398589A>T | CA386861971 | TBX5 | c.494T>A (p.Leu165Gln) c.344T>A (p.Leu115Gln) n.545T>A c.542T>A (p.Leu181Gln) | |
12 | g.114398590G>A | CA481920466 | TBX5 | c.493C>T (p.Leu165=) c.343C>T (p.Leu115=) n.544C>T c.541C>T (p.Leu181=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.114398590G>C | CA386861974 | TBX5 | c.493C>G (p.Leu165Val) c.343C>G (p.Leu115Val) n.544C>G c.541C>G (p.Leu181Val) | |
12 | g.114398590G= | CA2064649356 | TBX5 | c.493C= (p.Leu165=) c.343C= (p.Leu115=) n.544C= c.541C= (p.Leu181=) | |
12 | g.114398590G>T | CA386861975 | TBX5 | c.493C>A (p.Leu165Met) c.343C>A (p.Leu115Met) n.544C>A c.541C>A (p.Leu181Met) | |
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) |