Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.24256001G>A | CA485663605 | TGM1 | c.1479C>T (p.Phe493=) c.153C>T (p.Phe51=) c.552C>T (p.Phe184=) | gnomAD v4 |
14 | g.24256001G>C | CA389255772 | TGM1 | c.1479C>G (p.Phe493Leu) c.153C>G (p.Phe51Leu) c.552C>G (p.Phe184Leu) | |
14 | g.24256001G= | CA2123832366 | TGM1 | c.1479C= (p.Phe493=) c.153C= (p.Phe51=) c.552C= (p.Phe184=) | |
14 | g.24256001G>T | CA389255773 | TGM1 | c.1479C>A (p.Phe493Leu) c.153C>A (p.Phe51Leu) c.552C>A (p.Phe184Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256002A>C | CA389255783 | TGM1 | c.1478T>G (p.Phe493Cys) c.152T>G (p.Phe51Cys) c.551T>G (p.Phe184Cys) | |
14 | g.24256002A>G | CA389255780 | TGM1 | c.1478T>C (p.Phe493Ser) c.152T>C (p.Phe51Ser) c.551T>C (p.Phe184Ser) | |
14 | g.24256002A>T | CA389255776 | TGM1 | c.1478T>A (p.Phe493Tyr) c.152T>A (p.Phe51Tyr) c.551T>A (p.Phe184Tyr) | |
14 | g.24256004del | CA2624345717 | TGM1 | c.1478del (p.Phe493SerfsTer6) c.152del (p.Phe51SerfsTer6) c.551del (p.Phe184SerfsTer6) | gnomAD v4 |
14 | g.24256003A>C | CA389255786 | TGM1 | c.1477T>G (p.Phe493Val) c.151T>G (p.Phe51Val) c.550T>G (p.Phe184Val) | |
14 | g.24256003A>G | CA389255787 | TGM1 | c.1477T>C (p.Phe493Leu) c.151T>C (p.Phe51Leu) c.550T>C (p.Phe184Leu) | gnomAD v4 |
14 | g.24256003A>T | CA389255790 | TGM1 | c.1477T>A (p.Phe493Ile) c.151T>A (p.Phe51Ile) c.550T>A (p.Phe184Ile) | gnomAD v4 |
14 | g.24256004A>C | CA485663606 | TGM1 | c.1476T>G (p.Pro492=) c.150T>G (p.Pro50=) c.549T>G (p.Pro183=) | gnomAD v4 |
14 | g.24256004A>G | CA485663607 | TGM1 | c.1476T>C (p.Pro492=) c.150T>C (p.Pro50=) c.549T>C (p.Pro183=) | gnomAD v4 |
14 | g.24256004A>T | CA485663608 | TGM1 | c.1476T>A (p.Pro492=) c.150T>A (p.Pro50=) c.549T>A (p.Pro183=) | gnomAD v4 |
14 | g.24256005G>A | CA389255792 | TGM1 | c.1475C>T (p.Pro492Leu) c.149C>T (p.Pro50Leu) c.548C>T (p.Pro183Leu) | gnomAD v4 |
14 | g.24256005G>C | CA389255793 | TGM1 | c.1475C>G (p.Pro492Arg) c.149C>G (p.Pro50Arg) c.548C>G (p.Pro183Arg) | gnomAD v4 |
14 | g.24256005G>T | CA389255794 | TGM1 | c.1475C>A (p.Pro492His) c.149C>A (p.Pro50His) c.548C>A (p.Pro183His) | gnomAD v4 |
14 | g.24256006G>A | CA389255829 | TGM1 | c.1474C>T (p.Pro492Ser) c.148C>T (p.Pro50Ser) c.547C>T (p.Pro183Ser) | dbSNP gnomAD v2 |
14 | g.24256006G>C | CA389255801 | TGM1 | c.1474C>G (p.Pro492Ala) c.148C>G (p.Pro50Ala) c.547C>G (p.Pro183Ala) | |
14 | g.24256006G= | CA2123832371 | TGM1 | c.1474C= (p.Pro492=) c.148C= (p.Pro50=) c.547C= (p.Pro183=) | |
14 | g.24256006G>T | CA389255804 | TGM1 | c.1474C>A (p.Pro492Thr) c.148C>A (p.Pro50Thr) c.547C>A (p.Pro183Thr) | gnomAD v4 |
14 | g.24256007C>A | CA485663609 | TGM1 | c.1473G>T (p.Thr491=) c.147G>T (p.Thr49=) c.546G>T (p.Thr182=) | gnomAD v4 |
14 | g.24256007C= | CA2123832381 | TGM1 | c.1473G= (p.Thr491=) c.147G= (p.Thr49=) c.546G= (p.Thr182=) | |
14 | g.24256007C>G | CA485663610 | TGM1 | c.1473G>C (p.Thr491=) c.147G>C (p.Thr49=) c.546G>C (p.Thr182=) | |
14 | g.24256007C>T | CA7131079 | TGM1 | c.1473G>A (p.Thr491=) c.147G>A (p.Thr49=) c.546G>A (p.Thr182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256008G>A | CA389255859 | TGM1 | c.1472C>T (p.Thr491Met) c.146C>T (p.Thr49Met) c.545C>T (p.Thr182Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.24256008G>C | CA389255861 | TGM1 | c.1472C>G (p.Thr491Arg) c.146C>G (p.Thr49Arg) c.545C>G (p.Thr182Arg) | |
14 | g.24256008G= | CA2123832387 | TGM1 | c.1472C= (p.Thr491=) c.146C= (p.Thr49=) c.545C= (p.Thr182=) | |
14 | g.24256008G>T | CA389255862 | TGM1 | c.1472C>A (p.Thr491Lys) c.146C>A (p.Thr49Lys) c.545C>A (p.Thr182Lys) | gnomAD v4 |
14 | g.24256009T>A | CA389255865 | TGM1 | c.1471A>T (p.Thr491Ser) c.145A>T (p.Thr49Ser) c.544A>T (p.Thr182Ser) | |
14 | g.24256009T>C | CA389255868 | TGM1 | c.1471A>G (p.Thr491Ala) c.145A>G (p.Thr49Ala) c.544A>G (p.Thr182Ala) | COSMIC |
14 | g.24256009T>G | CA389255869 | TGM1 | c.1471A>C (p.Thr491Pro) c.145A>C (p.Thr49Pro) c.544A>C (p.Thr182Pro) | |
14 | g.24256010G>A | CA485663611 | TGM1 | c.1470C>T (p.Asp490=) c.144C>T (p.Asp48=) c.543C>T (p.Asp181=) | dbSNP gnomAD v4 |
14 | g.24256010G>C | CA389255874 | TGM1 | c.1470C>G (p.Asp490Glu) c.144C>G (p.Asp48Glu) c.543C>G (p.Asp181Glu) | |
14 | g.24256010G= | CA2123832389 | TGM1 | c.1470C= (p.Asp490=) c.144C= (p.Asp48=) c.543C= (p.Asp181=) | |
14 | g.24256010G>T | CA389255898 | TGM1 | c.1470C>A (p.Asp490Glu) c.144C>A (p.Asp48Glu) c.543C>A (p.Asp181Glu) | gnomAD v4 |
14 | g.24256011T>A | CA389255901 | TGM1 | c.1469A>T (p.Asp490Val) c.143A>T (p.Asp48Val) c.542A>T (p.Asp181Val) | gnomAD v4 |
14 | g.24256011T>C | CA256468 | TGM1 | c.1469A>G (p.Asp490Gly) c.143A>G (p.Asp48Gly) c.542A>G (p.Asp181Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256011T>G | CA389255913 | TGM1 | c.1469A>C (p.Asp490Ala) c.143A>C (p.Asp48Ala) c.542A>C (p.Asp181Ala) | |
14 | g.24256011T= | CA2123832400 | TGM1 | c.1469A= (p.Asp490=) c.143A= (p.Asp48=) c.542A= (p.Asp181=) | |
14 | g.24256012C>A | CA257893767 | TGM1 | c.1468G>T (p.Asp490Tyr) c.142G>T (p.Asp48Tyr) c.541G>T (p.Asp181Tyr) | dbSNP gnomAD v4 |
14 | g.24256012C= | CA2123832412 | TGM1 | c.1468G= (p.Asp490=) c.142G= (p.Asp48=) c.541G= (p.Asp181=) | |
14 | g.24256012C>G | CA389255949 | TGM1 | c.1468G>C (p.Asp490His) c.142G>C (p.Asp48His) c.541G>C (p.Asp181His) | |
14 | g.24256012C>T | CA389255943 | TGM1 | c.1468G>A (p.Asp490Asn) c.142G>A (p.Asp48Asn) c.541G>A (p.Asp181Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256013G>A | CA7131080 | TGM1 | c.1467C>T (p.Tyr489=) c.141C>T (p.Tyr47=) c.540C>T (p.Tyr180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256013G>C | CA389255969 | TGM1 | c.1467C>G (p.Tyr489Ter) c.141C>G (p.Tyr47Ter) c.540C>G (p.Tyr180Ter) | |
14 | g.24256013G= | CA2123832418 | TGM1 | c.1467C= (p.Tyr489=) c.141C= (p.Tyr47=) c.540C= (p.Tyr180=) | |
14 | g.24256013G>T | CA389255993 | TGM1 | c.1467C>A (p.Tyr489Ter) c.141C>A (p.Tyr47Ter) c.540C>A (p.Tyr180Ter) | gnomAD v4 |
14 | g.24256014T>A | CA389255996 | TGM1 | c.1466A>T (p.Tyr489Phe) c.140A>T (p.Tyr47Phe) c.539A>T (p.Tyr180Phe) | |
14 | g.24256014T>C | CA389255997 | TGM1 | c.1466A>G (p.Tyr489Cys) c.140A>G (p.Tyr47Cys) c.539A>G (p.Tyr180Cys) | |
14 | g.24256014T>G | CA389255998 | TGM1 | c.1466A>C (p.Tyr489Ser) c.140A>C (p.Tyr47Ser) c.539A>C (p.Tyr180Ser) | |
14 | g.24256015A>C | CA389256001 | TGM1 | c.1465T>G (p.Tyr489Asp) c.139T>G (p.Tyr47Asp) c.538T>G (p.Tyr180Asp) | |
14 | g.24256015A>G | CA389256009 | TGM1 | c.1465T>C (p.Tyr489His) c.139T>C (p.Tyr47His) c.538T>C (p.Tyr180His) | |
14 | g.24256015A>T | CA389256025 | TGM1 | c.1465T>A (p.Tyr489Asn) c.139T>A (p.Tyr47Asn) c.538T>A (p.Tyr180Asn) | |
14 | g.24256016C>A | CA389256029 | TGM1 | c.1464G>T (p.Lys488Asn) c.138G>T (p.Lys46Asn) c.537G>T (p.Lys179Asn) | gnomAD v4 |
14 | g.24256016C= | CA2123832426 | TGM1 | c.1464G= (p.Lys488=) c.138G= (p.Lys46=) c.537G= (p.Lys179=) | |
14 | g.24256016C>G | CA389256050 | TGM1 | c.1464G>C (p.Lys488Asn) c.138G>C (p.Lys46Asn) c.537G>C (p.Lys179Asn) | |
14 | g.24256016C>T | CA485663612 | TGM1 | c.1464G>A (p.Lys488=) c.138G>A (p.Lys46=) c.537G>A (p.Lys179=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256017T>A | CA389256058 | TGM1 | c.1463A>T (p.Lys488Met) c.137A>T (p.Lys46Met) c.536A>T (p.Lys179Met) | |
14 | g.24256017T>C | CA389256057 | TGM1 | c.1463A>G (p.Lys488Arg) c.137A>G (p.Lys46Arg) c.536A>G (p.Lys179Arg) | gnomAD v4 |
14 | g.24256017T>G | CA389256056 | TGM1 | c.1463A>C (p.Lys488Thr) c.137A>C (p.Lys46Thr) c.536A>C (p.Lys179Thr) | |
14 | g.24256018T>A | CA389256061 | TGM1 | c.1462A>T (p.Lys488Ter) c.136A>T (p.Lys46Ter) c.535A>T (p.Lys179Ter) | |
14 | g.24256018T>C | CA389256063 | TGM1 | c.1462A>G (p.Lys488Glu) c.136A>G (p.Lys46Glu) c.535A>G (p.Lys179Glu) | |
14 | g.24256018T>G | CA389256065 | TGM1 | c.1462A>C (p.Lys488Gln) c.136A>C (p.Lys46Gln) c.535A>C (p.Lys179Gln) | |
14 | g.24256019C>A | CA389256074 | TGM1 | c.1461G>T (p.Met487Ile) c.135G>T (p.Met45Ile) c.534G>T (p.Met178Ile) | gnomAD v4 |
14 | g.24256019C>G | CA389256075 | TGM1 | c.1461G>C (p.Met487Ile) c.135G>C (p.Met45Ile) c.534G>C (p.Met178Ile) | gnomAD v4 |
14 | g.24256019C>T | CA389256079 | TGM1 | c.1461G>A (p.Met487Ile) c.135G>A (p.Met45Ile) c.534G>A (p.Met178Ile) | gnomAD v4 |
14 | g.24256020A>C | CA389256084 | TGM1 | c.1460T>G (p.Met487Arg) c.134T>G (p.Met45Arg) c.533T>G (p.Met178Arg) | gnomAD v4 |
14 | g.24256020A>G | CA389256085 | TGM1 | c.1460T>C (p.Met487Thr) c.134T>C (p.Met45Thr) c.533T>C (p.Met178Thr) | gnomAD v4 |
14 | g.24256020A>T | CA389256086 | TGM1 | c.1460T>A (p.Met487Lys) c.134T>A (p.Met45Lys) c.533T>A (p.Met178Lys) | |
14 | g.24256021T>A | CA389256087 | TGM1 | c.1459A>T (p.Met487Leu) c.133A>T (p.Met45Leu) c.532A>T (p.Met178Leu) | gnomAD v4 |
14 | g.24256021T>C | CA389256092 | TGM1 | c.1459A>G (p.Met487Val) c.133A>G (p.Met45Val) c.532A>G (p.Met178Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256021T>G | CA389256100 | TGM1 | c.1459A>C (p.Met487Leu) c.133A>C (p.Met45Leu) c.532A>C (p.Met178Leu) | |
14 | g.24256021T= | CA2123832434 | TGM1 | c.1459A= (p.Met487=) c.133A= (p.Met45=) c.532A= (p.Met178=) | |
14 | g.24256022G>A | CA485663613 | TGM1 | c.1458C>T (p.Tyr486=) c.132C>T (p.Tyr44=) c.531C>T (p.Tyr177=) | gnomAD v4 COSMIC |
14 | g.24256022G>C | CA389256104 | TGM1 | c.1458C>G (p.Tyr486Ter) c.132C>G (p.Tyr44Ter) c.531C>G (p.Tyr177Ter) | gnomAD v4 |
14 | g.24256022G>T | CA389256107 | TGM1 | c.1458C>A (p.Tyr486Ter) c.132C>A (p.Tyr44Ter) c.531C>A (p.Tyr177Ter) | gnomAD v4 |
14 | g.24256023T>A | CA389256118 | TGM1 | c.1457A>T (p.Tyr486Phe) c.131A>T (p.Tyr44Phe) c.530A>T (p.Tyr177Phe) | gnomAD v4 |
14 | g.24256023T>C | CA389256131 | TGM1 | c.1457A>G (p.Tyr486Cys) c.131A>G (p.Tyr44Cys) c.530A>G (p.Tyr177Cys) | |
14 | g.24256023T>G | CA389256126 | TGM1 | c.1457A>C (p.Tyr486Ser) c.131A>C (p.Tyr44Ser) c.530A>C (p.Tyr177Ser) | |
14 | g.24256024A>C | CA389256136 | TGM1 | c.1456T>G (p.Tyr486Asp) c.130T>G (p.Tyr44Asp) c.529T>G (p.Tyr177Asp) | |
14 | g.24256024A>G | CA389256137 | TGM1 | c.1456T>C (p.Tyr486His) c.130T>C (p.Tyr44His) c.529T>C (p.Tyr177His) | gnomAD v4 |
14 | g.24256024A>T | CA389256138 | TGM1 | c.1456T>A (p.Tyr486Asn) c.130T>A (p.Tyr44Asn) c.529T>A (p.Tyr177Asn) | |
14 | g.24256025G>A | CA485663614 | TGM1 | c.1455C>T (p.Val485=) c.129C>T (p.Val43=) c.528C>T (p.Val176=) | gnomAD v4 |
14 | g.24256025G>C | CA485663615 | TGM1 | c.1455C>G (p.Val485=) c.129C>G (p.Val43=) c.528C>G (p.Val176=) | |
14 | g.24256025G>T | CA485663616 | TGM1 | c.1455C>A (p.Val485=) c.129C>A (p.Val43=) c.528C>A (p.Val176=) | gnomAD v4 |
14 | g.24256026A>C | CA389256162 | TGM1 | c.1454T>G (p.Val485Gly) c.128T>G (p.Val43Gly) c.527T>G (p.Val176Gly) | |
14 | g.24256026A>G | CA389256194 | TGM1 | c.1454T>C (p.Val485Ala) c.128T>C (p.Val43Ala) c.527T>C (p.Val176Ala) | gnomAD v4 |
14 | g.24256026A>T | CA389256206 | TGM1 | c.1454T>A (p.Val485Asp) c.128T>A (p.Val43Asp) c.527T>A (p.Val176Asp) | gnomAD v4 |
14 | g.24256027C>A | CA389256230 | TGM1 | c.1453G>T (p.Val485Phe) c.127G>T (p.Val43Phe) c.526G>T (p.Val176Phe) | gnomAD v4 |
14 | g.24256027C>G | CA389256237 | TGM1 | c.1453G>C (p.Val485Leu) c.127G>C (p.Val43Leu) c.526G>C (p.Val176Leu) | gnomAD v4 |
14 | g.24256027C>T | CA389256244 | TGM1 | c.1453G>A (p.Val485Ile) c.127G>A (p.Val43Ile) c.526G>A (p.Val176Ile) | |
14 | g.24256028C>A | CA7131081 | TGM1 | c.1452G>T (p.Leu484=) c.126G>T (p.Leu42=) c.525G>T (p.Leu175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256028C= | CA2123832438 | TGM1 | c.1452G= (p.Leu484=) c.126G= (p.Leu42=) c.525G= (p.Leu175=) | |
14 | g.24256028C>G | CA257893811 | TGM1 | c.1452G>C (p.Leu484=) c.126G>C (p.Leu42=) c.525G>C (p.Leu175=) | dbSNP |
14 | g.24256028C>T | CA485663617 | TGM1 | c.1452G>A (p.Leu484=) c.126G>A (p.Leu42=) c.525G>A (p.Leu175=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256029A>C | CA389256258 | TGM1 | c.1451T>G (p.Leu484Arg) c.125T>G (p.Leu42Arg) c.524T>G (p.Leu175Arg) | |
14 | g.24256029A>G | CA389256256 | TGM1 | c.1451T>C (p.Leu484Pro) c.125T>C (p.Leu42Pro) c.524T>C (p.Leu175Pro) | gnomAD v4 |
14 | g.24256029A>T | CA389256254 | TGM1 | c.1451T>A (p.Leu484Gln) c.125T>A (p.Leu42Gln) c.524T>A (p.Leu175Gln) | |
14 | g.24256030G>A | CA485663618 | TGM1 | c.1450C>T (p.Leu484=) c.124C>T (p.Leu42=) c.523C>T (p.Leu175=) | |
14 | g.24256030G>C | CA389256261 | TGM1 | c.1450C>G (p.Leu484Val) c.124C>G (p.Leu42Val) c.523C>G (p.Leu175Val) | gnomAD v4 |
14 | g.24256030G>T | CA389256315 | TGM1 | c.1450C>A (p.Leu484Met) c.124C>A (p.Leu42Met) c.523C>A (p.Leu175Met) | gnomAD v4 |
14 | g.24256031G>A | CA485663619 | TGM1 | c.1449C>T (p.Gly483=) c.123C>T (p.Gly41=) c.522C>T (p.Gly174=) | gnomAD v4 |
14 | g.24256031G>C | CA257893812 | TGM1 | c.1449C>G (p.Gly483=) c.123C>G (p.Gly41=) c.522C>G (p.Gly174=) | dbSNP |
14 | g.24256031G= | CA2123832443 | TGM1 | c.1449C= (p.Gly483=) c.123C= (p.Gly41=) c.522C= (p.Gly174=) | |
14 | g.24256031G>T | CA485663620 | TGM1 | c.1449C>A (p.Gly483=) c.123C>A (p.Gly41=) c.522C>A (p.Gly174=) | gnomAD v4 |
14 | g.24256032C>A | CA389256337 | TGM1 | c.1448G>T (p.Gly483Val) c.122G>T (p.Gly41Val) c.521G>T (p.Gly174Val) | gnomAD v4 |
14 | g.24256032C= | CA2123832449 | TGM1 | c.1448G= (p.Gly483=) c.122G= (p.Gly41=) c.521G= (p.Gly174=) | |
14 | g.24256032C>G | CA389256339 | TGM1 | c.1448G>C (p.Gly483Ala) c.122G>C (p.Gly41Ala) c.521G>C (p.Gly174Ala) | dbSNP |
14 | g.24256032C>T | CA389256343 | TGM1 | c.1448G>A (p.Gly483Asp) c.122G>A (p.Gly41Asp) c.521G>A (p.Gly174Asp) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256033del | CA2624345718 | TGM1 | c.1448del (p.Gly483AlafsTer5) c.122del (p.Gly41AlafsTer5) c.521del (p.Gly174AlafsTer5) | gnomAD v4 |
14 | g.24256033C>A | CA389256355 | TGM1 | c.1447G>T (p.Gly483Cys) c.121G>T (p.Gly41Cys) c.520G>T (p.Gly174Cys) | gnomAD v4 |
14 | g.24256033C= | CA2123832454 | TGM1 | c.1447G= (p.Gly483=) c.121G= (p.Gly41=) c.520G= (p.Gly174=) | |
14 | g.24256033C>G | CA389256358 | TGM1 | c.1447G>C (p.Gly483Arg) c.121G>C (p.Gly41Arg) c.520G>C (p.Gly174Arg) | dbSNP |
14 | g.24256033C>T | CA389256361 | TGM1 | c.1447G>A (p.Gly483Ser) c.121G>A (p.Gly41Ser) c.520G>A (p.Gly174Ser) | gnomAD v4 |
14 | g.24256034A>C | CA389256362 | TGM1 | c.1446T>G (p.Asn482Lys) c.120T>G (p.Asn40Lys) c.519T>G (p.Asn173Lys) | |
14 | g.24256034A>G | CA485663621 | TGM1 | c.1446T>C (p.Asn482=) c.120T>C (p.Asn40=) c.519T>C (p.Asn173=) | gnomAD v4 |
14 | g.24256034A>T | CA389256370 | TGM1 | c.1446T>A (p.Asn482Lys) c.120T>A (p.Asn40Lys) c.519T>A (p.Asn173Lys) | gnomAD v4 |
14 | g.24256035T>A | CA389256400 | TGM1 | c.1445A>T (p.Asn482Ile) c.119A>T (p.Asn40Ile) c.518A>T (p.Asn173Ile) | |
14 | g.24256035T>C | CA257893813 | TGM1 | c.1445A>G (p.Asn482Ser) c.119A>G (p.Asn40Ser) c.518A>G (p.Asn173Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256035T>G | CA389256388 | TGM1 | c.1445A>C (p.Asn482Thr) c.119A>C (p.Asn40Thr) c.518A>C (p.Asn173Thr) | |
14 | g.24256035T= | CA2123832463 | TGM1 | c.1445A= (p.Asn482=) c.119A= (p.Asn40=) c.518A= (p.Asn173=) | |
14 | g.24256036T>A | CA389256410 | TGM1 | c.1444A>T (p.Asn482Tyr) c.118A>T (p.Asn40Tyr) c.517A>T (p.Asn173Tyr) | |
14 | g.24256036T>C | CA7131082 | TGM1 | c.1444A>G (p.Asn482Asp) c.118A>G (p.Asn40Asp) c.517A>G (p.Asn173Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24256036T>G | CA389256423 | TGM1 | c.1444A>C (p.Asn482His) c.118A>C (p.Asn40His) c.517A>C (p.Asn173His) | |
14 | g.24256036T= | CA2123832474 | TGM1 | c.1444A= (p.Asn482=) c.118A= (p.Asn40=) c.517A= (p.Asn173=) | |
14 | g.24256037C>A | CA389256432 | TGM1 | c.1443G>T (p.Lys481Asn) c.117G>T (p.Lys39Asn) c.516G>T (p.Lys172Asn) | gnomAD v4 |
14 | g.24256037C>G | CA389256434 | TGM1 | c.1443G>C (p.Lys481Asn) c.117G>C (p.Lys39Asn) c.516G>C (p.Lys172Asn) | gnomAD v4 |
14 | g.24256037C>T | CA485663622 | TGM1 | c.1443G>A (p.Lys481=) c.117G>A (p.Lys39=) c.516G>A (p.Lys172=) | ClinVar dbSNP gnomAD v4 |
14 | g.24256038T>A | CA389256440 | TGM1 | c.1442A>T (p.Lys481Met) c.116A>T (p.Lys39Met) c.515A>T (p.Lys172Met) | gnomAD v4 |
14 | g.24256038T>C | CA389256442 | TGM1 | c.1442A>G (p.Lys481Arg) c.116A>G (p.Lys39Arg) c.515A>G (p.Lys172Arg) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256038T>G | CA389256443 | TGM1 | c.1442A>C (p.Lys481Thr) c.116A>C (p.Lys39Thr) c.515A>C (p.Lys172Thr) | |
14 | g.24256038T= | CA2123832483 | TGM1 | c.1442A= (p.Lys481=) c.116A= (p.Lys39=) c.515A= (p.Lys172=) | |
14 | g.24256039T>A | CA389256445 | TGM1 | c.1441A>T (p.Lys481Ter) c.115A>T (p.Lys39Ter) c.514A>T (p.Lys172Ter) | |
14 | g.24256039T>C | CA389256447 | TGM1 | c.1441A>G (p.Lys481Glu) c.115A>G (p.Lys39Glu) c.514A>G (p.Lys172Glu) | gnomAD v4 |
14 | g.24256039T>G | CA389256453 | TGM1 | c.1441A>C (p.Lys481Gln) c.115A>C (p.Lys39Gln) c.514A>C (p.Lys172Gln) | |
14 | g.24256040G>A | CA485663623 | TGM1 | c.1440C>T (p.Ile480=) c.114C>T (p.Ile38=) c.513C>T (p.Ile171=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256040G>C | CA389256464 | TGM1 | c.1440C>G (p.Ile480Met) c.114C>G (p.Ile38Met) c.513C>G (p.Ile171Met) | gnomAD v4 |
14 | g.24256040G= | CA2123832488 | TGM1 | c.1440C= (p.Ile480=) c.114C= (p.Ile38=) c.513C= (p.Ile171=) | |
14 | g.24256040G>T | CA485663624 | TGM1 | c.1440C>A (p.Ile480=) c.114C>A (p.Ile38=) c.513C>A (p.Ile171=) | gnomAD v4 |
14 | g.24256041A>C | CA389256503 | TGM1 | c.1439T>G (p.Ile480Ser) c.113T>G (p.Ile38Ser) c.512T>G (p.Ile171Ser) | |
14 | g.24256041A>G | CA389256480 | TGM1 | c.1439T>C (p.Ile480Thr) c.113T>C (p.Ile38Thr) c.512T>C (p.Ile171Thr) | gnomAD v4 |
14 | g.24256041A>T | CA389256472 | TGM1 | c.1439T>A (p.Ile480Asn) c.113T>A (p.Ile38Asn) c.512T>A (p.Ile171Asn) | gnomAD v4 |
14 | g.24256042T>A | CA7131083 | TGM1 | c.1438A>T (p.Ile480Phe) c.112A>T (p.Ile38Phe) c.511A>T (p.Ile171Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256042T>C | CA389256517 | TGM1 | c.1438A>G (p.Ile480Val) c.112A>G (p.Ile38Val) c.511A>G (p.Ile171Val) | gnomAD v3 gnomAD v4 |
14 | g.24256042T>G | CA389256527 | TGM1 | c.1438A>C (p.Ile480Leu) c.112A>C (p.Ile38Leu) c.511A>C (p.Ile171Leu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256042T= | CA2123832495 | TGM1 | c.1438A= (p.Ile480=) c.112A= (p.Ile38=) c.511A= (p.Ile171=) | |
14 | g.24256043G>A | CA7131084 | TGM1 | c.1437C>T (p.Ser479=) c.111C>T (p.Ser37=) c.510C>T (p.Ser170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256043G>C | CA485663626 | TGM1 | c.1437C>G (p.Ser479=) c.111C>G (p.Ser37=) c.510C>G (p.Ser170=) | |
14 | g.24256043G= | CA2123832507 | TGM1 | c.1437C= (p.Ser479=) c.111C= (p.Ser37=) c.510C= (p.Ser170=) | |
14 | g.24256043G>T | CA485663625 | TGM1 | c.1437C>A (p.Ser479=) c.111C>A (p.Ser37=) c.510C>A (p.Ser170=) | gnomAD v4 |
14 | g.24256044dup | CA915948911 | TGM1 | c.1437dup (p.Ile480HisfsTer18) c.111dup (p.Ile38HisfsTer18) c.510dup (p.Ile171HisfsTer18) | ClinVar dbSNP gnomAD v4 |
14 | g.24256044G>A | CA389256542 | TGM1 | c.1436C>T (p.Ser479Phe) c.110C>T (p.Ser37Phe) c.509C>T (p.Ser170Phe) | gnomAD v4 |
14 | g.24256044G>C | CA389256548 | TGM1 | c.1436C>G (p.Ser479Cys) c.110C>G (p.Ser37Cys) c.509C>G (p.Ser170Cys) | |
14 | g.24256044G>T | CA389256561 | TGM1 | c.1436C>A (p.Ser479Tyr) c.110C>A (p.Ser37Tyr) c.509C>A (p.Ser170Tyr) | gnomAD v4 |
14 | g.24256045A>C | CA389256575 | TGM1 | c.1435T>G (p.Ser479Ala) c.109T>G (p.Ser37Ala) c.508T>G (p.Ser170Ala) | |
14 | g.24256045A>G | CA389256584 | TGM1 | c.1435T>C (p.Ser479Pro) c.109T>C (p.Ser37Pro) c.508T>C (p.Ser170Pro) | gnomAD v4 |
14 | g.24256045A>T | CA389256590 | TGM1 | c.1435T>A (p.Ser479Thr) c.109T>A (p.Ser37Thr) c.508T>A (p.Ser170Thr) | |
14 | g.24256046C>A | CA389256620 | TGM1 | c.1434G>T (p.Glu478Asp) c.108G>T (p.Glu36Asp) c.507G>T (p.Glu169Asp) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256046C= | CA2123832519 | TGM1 | c.1434G= (p.Glu478=) c.108G= (p.Glu36=) c.507G= (p.Glu169=) | |
14 | g.24256046C>G | CA389256630 | TGM1 | c.1434G>C (p.Glu478Asp) c.108G>C (p.Glu36Asp) c.507G>C (p.Glu169Asp) | |
14 | g.24256046C>T | CA7131085 | TGM1 | c.1434G>A (p.Glu478=) c.108G>A (p.Glu36=) c.507G>A (p.Glu169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256047T>A | CA389256647 | TGM1 | c.1433A>T (p.Glu478Val) c.107A>T (p.Glu36Val) c.506A>T (p.Glu169Val) | gnomAD v4 |
14 | g.24256047T>C | CA389256648 | TGM1 | c.1433A>G (p.Glu478Gly) c.107A>G (p.Glu36Gly) c.506A>G (p.Glu169Gly) | gnomAD v4 |
14 | g.24256047T>G | CA389256646 | TGM1 | c.1433A>C (p.Glu478Ala) c.107A>C (p.Glu36Ala) c.506A>C (p.Glu169Ala) | |
14 | g.24256048C>A | CA389256656 | TGM1 | c.1432G>T (p.Glu478Ter) c.106G>T (p.Glu36Ter) c.505G>T (p.Glu169Ter) | gnomAD v4 |
14 | g.24256048C>G | CA389256655 | TGM1 | c.1432G>C (p.Glu478Gln) c.106G>C (p.Glu36Gln) c.505G>C (p.Glu169Gln) | gnomAD v4 |
14 | g.24256048C>T | CA389256666 | TGM1 | c.1432G>A (p.Glu478Lys) c.106G>A (p.Glu36Lys) c.505G>A (p.Glu169Lys) | gnomAD v4 |
14 | g.24256049C>A | CA485663627 | TGM1 | c.1431G>T (p.Val477=) c.105G>T (p.Val35=) c.504G>T (p.Val168=) | gnomAD v4 |
14 | g.24256049C>G | CA485663629 | TGM1 | c.1431G>C (p.Val477=) c.105G>C (p.Val35=) c.504G>C (p.Val168=) | |
14 | g.24256049C>T | CA485663628 | TGM1 | c.1431G>A (p.Val477=) c.105G>A (p.Val35=) c.504G>A (p.Val168=) | gnomAD v4 |
14 | g.24256049_24256051delinsAG | CA2580087961 | TGM1 | c.1429_1431delinsCT (p.Val477LeufsTer11) c.103_105delinsCT (p.Val35LeufsTer11) c.502_504delinsCT (p.Val168LeufsTer11) | ClinVar |
14 | g.24256051_24256052del | CA2697553835 | TGM1 | c.1430_1431del (p.Val477GlyfsTer20) c.104_105del (p.Val35GlyfsTer20) c.503_504del (p.Val168GlyfsTer20) | ClinVar |
14 | g.24256050A>C | CA389256680 | TGM1 | c.1430T>G (p.Val477Gly) c.104T>G (p.Val35Gly) c.503T>G (p.Val168Gly) | |
14 | g.24256050A>G | CA389256699 | TGM1 | c.1430T>C (p.Val477Ala) c.104T>C (p.Val35Ala) c.503T>C (p.Val168Ala) | gnomAD v4 |
14 | g.24256050A>T | CA389256710 | TGM1 | c.1430T>A (p.Val477Glu) c.104T>A (p.Val35Glu) c.503T>A (p.Val168Glu) | gnomAD v4 |
14 | g.24256051C>A | CA389256713 | TGM1 | c.1429G>T (p.Val477Leu) c.103G>T (p.Val35Leu) c.502G>T (p.Val168Leu) | gnomAD v4 |
14 | g.24256051C>G | CA389256714 | TGM1 | c.1429G>C (p.Val477Leu) c.103G>C (p.Val35Leu) c.502G>C (p.Val168Leu) | |
14 | g.24256051C>T | CA389256715 | TGM1 | c.1429G>A (p.Val477Met) c.103G>A (p.Val35Met) c.502G>A (p.Val168Met) | gnomAD v4 |
14 | g.24256052A= | CA2123832520 | TGM1 | c.1428T= (p.Ser476=) c.102T= (p.Ser34=) c.501T= (p.Ser167=) | |
14 | g.24256052A>C | CA485663630 | TGM1 | c.1428T>G (p.Ser476=) c.102T>G (p.Ser34=) c.501T>G (p.Ser167=) | |
14 | g.24256052A>G | CA485663631 | TGM1 | c.1428T>C (p.Ser476=) c.102T>C (p.Ser34=) c.501T>C (p.Ser167=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256052A>T | CA485663632 | TGM1 | c.1428T>A (p.Ser476=) c.102T>A (p.Ser34=) c.501T>A (p.Ser167=) | |
14 | g.24256053G>A | CA389256726 | TGM1 | c.1427C>T (p.Ser476Phe) c.101C>T (p.Ser34Phe) c.500C>T (p.Ser167Phe) | gnomAD v4 |
14 | g.24256053G>C | CA389256728 | TGM1 | c.1427C>G (p.Ser476Cys) c.101C>G (p.Ser34Cys) c.500C>G (p.Ser167Cys) | |
14 | g.24256053G>T | CA389256730 | TGM1 | c.1427C>A (p.Ser476Tyr) c.101C>A (p.Ser34Tyr) c.500C>A (p.Ser167Tyr) | gnomAD v4 |
14 | g.24256054A>C | CA389256734 | TGM1 | c.1426T>G (p.Ser476Ala) c.100T>G (p.Ser34Ala) c.499T>G (p.Ser167Ala) | |
14 | g.24256054A>G | CA389256735 | TGM1 | c.1426T>C (p.Ser476Pro) c.100T>C (p.Ser34Pro) c.499T>C (p.Ser167Pro) | |
14 | g.24256054A>T | CA389256736 | TGM1 | c.1426T>A (p.Ser476Thr) c.100T>A (p.Ser34Thr) c.499T>A (p.Ser167Thr) | |
14 | g.24256055G>A | CA7131086 | TGM1 | c.1425C>T (p.Cys475=) c.99C>T (p.Cys33=) c.498C>T (p.Cys166=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256055G>C | CA389256744 | TGM1 | c.1425C>G (p.Cys475Trp) c.99C>G (p.Cys33Trp) c.498C>G (p.Cys166Trp) | |
14 | g.24256055G= | CA2123832523 | TGM1 | c.1425C= (p.Cys475=) c.99C= (p.Cys33=) c.498C= (p.Cys166=) | |
14 | g.24256055G>T | CA389256740 | TGM1 | c.1425C>A (p.Cys475Ter) c.99C>A (p.Cys33Ter) c.498C>A (p.Cys166Ter) | gnomAD v4 |
14 | g.24256056C>A | CA389256747 | TGM1 | c.1424G>T (p.Cys475Phe) c.98G>T (p.Cys33Phe) c.497G>T (p.Cys166Phe) | gnomAD v4 |
14 | g.24256056C>G | CA389256748 | TGM1 | c.1424G>C (p.Cys475Ser) c.98G>C (p.Cys33Ser) c.497G>C (p.Cys166Ser) | |
14 | g.24256056C>T | CA389256753 | TGM1 | c.1424G>A (p.Cys475Tyr) c.98G>A (p.Cys33Tyr) c.497G>A (p.Cys166Tyr) | gnomAD v4 |
14 | g.24256057A>C | CA389256757 | TGM1 | c.1423T>G (p.Cys475Gly) c.97T>G (p.Cys33Gly) c.496T>G (p.Cys166Gly) | |
14 | g.24256057A>G | CA389256759 | TGM1 | c.1423T>C (p.Cys475Arg) c.97T>C (p.Cys33Arg) c.496T>C (p.Cys166Arg) | gnomAD v4 |
14 | g.24256057A>T | CA389256762 | TGM1 | c.1423T>A (p.Cys475Ser) c.97T>A (p.Cys33Ser) c.496T>A (p.Cys166Ser) | |
14 | g.24256058G>A | CA7131087 | TGM1 | c.1422C>T (p.Pro474=) c.96C>T (p.Pro32=) c.495C>T (p.Pro165=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24256058G>C | CA485663634 | TGM1 | c.1422C>G (p.Pro474=) c.96C>G (p.Pro32=) c.495C>G (p.Pro165=) | gnomAD v4 |
14 | g.24256058G= | CA2123832527 | TGM1 | c.1422C= (p.Pro474=) c.96C= (p.Pro32=) c.495C= (p.Pro165=) | |
14 | g.24256058G>T | CA485663633 | TGM1 | c.1422C>A (p.Pro474=) c.96C>A (p.Pro32=) c.495C>A (p.Pro165=) | gnomAD v4 |
14 | g.24256058_24256059insT | CA2695219159 | TGM1 | c.1421_1422insA (p.Cys475LeufsTer23) c.95_96insA (p.Cys33LeufsTer23) c.494_495insA (p.Cys166LeufsTer23) | |
14 | g.24256059G>A | CA389256780 | TGM1 | c.1421C>T (p.Pro474Leu) c.95C>T (p.Pro32Leu) c.494C>T (p.Pro165Leu) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24256059G>C | CA389256790 | TGM1 | c.1421C>G (p.Pro474Arg) c.95C>G (p.Pro32Arg) c.494C>G (p.Pro165Arg) | |
14 | g.24256059G= | CA2123832531 | TGM1 | c.1421C= (p.Pro474=) c.95C= (p.Pro32=) c.494C= (p.Pro165=) | |
14 | g.24256059G>T | CA389256796 | TGM1 | c.1421C>A (p.Pro474His) c.95C>A (p.Pro32His) c.494C>A (p.Pro165His) | gnomAD v4 |
14 | g.24256060G>A | CA389256809 | TGM1 | c.1420C>T (p.Pro474Ser) c.94C>T (p.Pro32Ser) c.493C>T (p.Pro165Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256060G>C | CA389256810 | TGM1 | c.1420C>G (p.Pro474Ala) c.94C>G (p.Pro32Ala) c.493C>G (p.Pro165Ala) | |
14 | g.24256060G= | CA2123832535 | TGM1 | c.1420C= (p.Pro474=) c.94C= (p.Pro32=) c.493C= (p.Pro165=) | |
14 | g.24256060G>T | CA389256808 | TGM1 | c.1420C>A (p.Pro474Thr) c.94C>A (p.Pro32Thr) c.493C>A (p.Pro165Thr) | gnomAD v4 |
14 | g.24256061G>A | CA485663635 | TGM1 | c.1419C>T (p.Gly473=) c.93C>T (p.Gly31=) c.492C>T (p.Gly164=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256061G>C | CA485663637 | TGM1 | c.1419C>G (p.Gly473=) c.93C>G (p.Gly31=) c.492C>G (p.Gly164=) | |
14 | g.24256061G= | CA2123832543 | TGM1 | c.1419C= (p.Gly473=) c.93C= (p.Gly31=) c.492C= (p.Gly164=) | |
14 | g.24256061G>T | CA485663636 | TGM1 | c.1419C>A (p.Gly473=) c.93C>A (p.Gly31=) c.492C>A (p.Gly164=) | gnomAD v4 |
14 | g.24256061_24256062delinsGC | CA2123832539 | TGM1 | c.1418_1419delinsGC (p.Gly473=) c.92_93delinsGC (p.Gly31=) c.491_492delinsGC (p.Gly164=) | |
14 | g.24256062C>A | CA257893871 | TGM1 | c.1418G>T (p.Gly473Val) c.92G>T (p.Gly31Val) c.491G>T (p.Gly164Val) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24256062C= | CA2123832558 | TGM1 | c.1418G= (p.Gly473=) c.92G= (p.Gly31=) c.491G= (p.Gly164=) | |
14 | g.24256062C>G | CA389256825 | TGM1 | c.1418G>C (p.Gly473Ala) c.92G>C (p.Gly31Ala) c.491G>C (p.Gly164Ala) | |
14 | g.24256062C>T | CA389256830 | TGM1 | c.1418G>A (p.Gly473Asp) c.92G>A (p.Gly31Asp) c.491G>A (p.Gly164Asp) | gnomAD v4 |
14 | g.24256063del | CA7131088 | TGM1 | c.1418del (p.Gly473AlafsTer15) c.92del (p.Gly31AlafsTer15) c.491del (p.Gly164AlafsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24256063C>A | CA389256894 | TGM1 | c.1417G>T (p.Gly473Cys) c.91G>T (p.Gly31Cys) c.490G>T (p.Gly164Cys) | gnomAD v4 |
14 | g.24256063C= | CA2123832569 | TGM1 | c.1417G= (p.Gly473=) c.91G= (p.Gly31=) c.490G= (p.Gly164=) | |
14 | g.24256063C>G | CA389256905 | TGM1 | c.1417G>C (p.Gly473Arg) c.91G>C (p.Gly31Arg) c.490G>C (p.Gly164Arg) | ClinVar |
14 | g.24256063C>T | CA16042921 | TGM1 | c.1417G>A (p.Gly473Ser) c.91G>A (p.Gly31Ser) c.490G>A (p.Gly164Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256063_24256066delinsCGCA | CA2123832567 | TGM1 | c.1414_1417delinsTGCG (p.Cys472=) c.88_91delinsTGCG (p.Cys30=) c.487_490delinsTGCG (p.Cys163=) | |
14 | g.24256063_24256073delinsCGCAGCAGAAG | CA2123832568 | TGM1 | c.1407_1417delinsCTTCTGCTGCG (p.Ile469=) c.81_91delinsCTTCTGCTGCG (p.Ile27=) c.480_490delinsCTTCTGCTGCG (p.Ile160=) | |
14 | g.24256064G>A | CA7131089 | TGM1 | c.1416C>T (p.Cys472=) c.90C>T (p.Cys30=) c.489C>T (p.Cys163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256064G>C | CA389256944 | TGM1 | c.1416C>G (p.Cys472Trp) c.90C>G (p.Cys30Trp) c.489C>G (p.Cys163Trp) | |
14 | g.24256064G= | CA2123832582 | TGM1 | c.1416C= (p.Cys472=) c.90C= (p.Cys30=) c.489C= (p.Cys163=) | |
14 | g.24256064G>T | CA389256950 | TGM1 | c.1416C>A (p.Cys472Ter) c.90C>A (p.Cys30Ter) c.489C>A (p.Cys163Ter) | gnomAD v4 |
14 | g.24256068_24256070del | CA2123832579 | TGM1 | c.1414_1416del (p.Cys472del) c.88_90del (p.Cys30del) c.487_489del (p.Cys163del) | dbSNP |
14 | g.24256064_24256073delinsACAGAGC | CA16619856 | TGM1 | c.1407_1416delinsGCTCTGT (p.Ile469_Cys471delinsMetLeu) c.81_90delinsGCTCTGT (p.Ile27_Cys29delinsMetLeu) c.480_489delinsGCTCTGT (p.Ile160_Cys162delinsMetLeu) | ClinVar dbSNP |
14 | g.24256065C>A | CA389256966 | TGM1 | c.1415G>T (p.Cys472Phe) c.89G>T (p.Cys30Phe) c.488G>T (p.Cys163Phe) | gnomAD v4 |
14 | g.24256065C>G | CA389256968 | TGM1 | c.1415G>C (p.Cys472Ser) c.89G>C (p.Cys30Ser) c.488G>C (p.Cys163Ser) | |
14 | g.24256065C>T | CA389256969 | TGM1 | c.1415G>A (p.Cys472Tyr) c.89G>A (p.Cys30Tyr) c.488G>A (p.Cys163Tyr) | gnomAD v4 |
14 | g.24256066A>C | CA389257007 | TGM1 | c.1414T>G (p.Cys472Gly) c.88T>G (p.Cys30Gly) c.487T>G (p.Cys163Gly) | |
14 | g.24256066A>G | CA389256998 | TGM1 | c.1414T>C (p.Cys472Arg) c.88T>C (p.Cys30Arg) c.487T>C (p.Cys163Arg) | ClinVar |
14 | g.24256066A>T | CA389256980 | TGM1 | c.1414T>A (p.Cys472Ser) c.88T>A (p.Cys30Ser) c.487T>A (p.Cys163Ser) | |
14 | g.24256067G>A | CA485663638 | TGM1 | c.1413C>T (p.Cys471=) c.87C>T (p.Cys29=) c.486C>T (p.Cys162=) | ClinVar gnomAD v2 gnomAD v4 |
14 | g.24256067G>C | CA389257023 | TGM1 | c.1413C>G (p.Cys471Trp) c.87C>G (p.Cys29Trp) c.486C>G (p.Cys162Trp) | |
14 | g.24256067G>T | CA389257025 | TGM1 | c.1413C>A (p.Cys471Ter) c.87C>A (p.Cys29Ter) c.486C>A (p.Cys162Ter) | gnomAD v4 |
14 | g.24256068C>A | CA389257027 | TGM1 | c.1412G>T (p.Cys471Phe) c.86G>T (p.Cys29Phe) c.485G>T (p.Cys162Phe) | gnomAD v4 |
14 | g.24256068C= | CA2123832590 | TGM1 | c.1412G= (p.Cys471=) c.86G= (p.Cys29=) c.485G= (p.Cys162=) | |
14 | g.24256068C>G | CA389257037 | TGM1 | c.1412G>C (p.Cys471Ser) c.86G>C (p.Cys29Ser) c.485G>C (p.Cys162Ser) | |
14 | g.24256068C>T | CA389257047 | TGM1 | c.1412G>A (p.Cys471Tyr) c.86G>A (p.Cys29Tyr) c.485G>A (p.Cys162Tyr) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256068_24256071del | CA612959137 | TGM1 | c.1409_1412del (p.Phe470SerfsTer17) c.83_86del (p.Phe28SerfsTer17) c.482_485del (p.Phe161SerfsTer17) | gnomAD v2 |
14 | g.24256069A= | CA2123832594 | TGM1 | c.1411T= (p.Cys471=) c.85T= (p.Cys29=) c.484T= (p.Cys162=) | |
14 | g.24256069A>C | CA389257050 | TGM1 | c.1411T>G (p.Cys471Gly) c.85T>G (p.Cys29Gly) c.484T>G (p.Cys162Gly) | |
14 | g.24256069A>G | CA389257051 | TGM1 | c.1411T>C (p.Cys471Arg) c.85T>C (p.Cys29Arg) c.484T>C (p.Cys162Arg) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256069A>T | CA389257053 | TGM1 | c.1411T>A (p.Cys471Ser) c.85T>A (p.Cys29Ser) c.484T>A (p.Cys162Ser) | |
14 | g.24256072_24256074del | CA2624345719 | TGM1 | c.1409_1411del (p.Phe470del) c.83_85del (p.Phe28del) c.482_484del (p.Phe161del) | gnomAD v4 |
14 | g.24256070G>A | CA485663639 | TGM1 | c.1410C>T (p.Phe470=) c.84C>T (p.Phe28=) c.483C>T (p.Phe161=) | gnomAD v4 |
14 | g.24256070G>C | CA389257059 | TGM1 | c.1410C>G (p.Phe470Leu) c.84C>G (p.Phe28Leu) c.483C>G (p.Phe161Leu) | |
14 | g.24256070G>T | CA389257060 | TGM1 | c.1410C>A (p.Phe470Leu) c.84C>A (p.Phe28Leu) c.483C>A (p.Phe161Leu) | gnomAD v4 |
14 | g.24256070_24256071delinsGA | CA2123832597 | TGM1 | c.1409_1410delinsTC (p.Phe470=) c.83_84delinsTC (p.Phe28=) c.482_483delinsTC (p.Phe161=) | |
14 | g.24256071A>C | CA389257061 | TGM1 | c.1409T>G (p.Phe470Cys) c.83T>G (p.Phe28Cys) c.482T>G (p.Phe161Cys) | |
14 | g.24256071A>G | CA389257062 | TGM1 | c.1409T>C (p.Phe470Ser) c.83T>C (p.Phe28Ser) c.482T>C (p.Phe161Ser) | |
14 | g.24256071A>T | CA389257067 | TGM1 | c.1409T>A (p.Phe470Tyr) c.83T>A (p.Phe28Tyr) c.482T>A (p.Phe161Tyr) | |
14 | g.24256072del | CA612959138 | TGM1 | c.1409del (p.Phe470SerfsTer18) c.83del (p.Phe28SerfsTer18) c.482del (p.Phe161SerfsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256072A= | CA2123832609 | TGM1 | c.1408T= (p.Phe470=) c.82T= (p.Phe28=) c.481T= (p.Phe161=) | |
14 | g.24256072A>C | CA389257077 | TGM1 | c.1408T>G (p.Phe470Val) c.82T>G (p.Phe28Val) c.481T>G (p.Phe161Val) | |
14 | g.24256072A>G | CA389257085 | TGM1 | c.1408T>C (p.Phe470Leu) c.82T>C (p.Phe28Leu) c.481T>C (p.Phe161Leu) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24256072A>T | CA389257074 | TGM1 | c.1408T>A (p.Phe470Ile) c.82T>A (p.Phe28Ile) c.481T>A (p.Phe161Ile) | gnomAD v4 |
14 | g.24256073G>A | CA485663640 | TGM1 | c.1407C>T (p.Ile469=) c.81C>T (p.Ile27=) c.480C>T (p.Ile160=) | gnomAD v4 |
14 | g.24256073G>C | CA389257087 | TGM1 | c.1407C>G (p.Ile469Met) c.81C>G (p.Ile27Met) c.480C>G (p.Ile160Met) | |
14 | g.24256073G= | CA2123832615 | TGM1 | c.1407C= (p.Ile469=) c.81C= (p.Ile27=) c.480C= (p.Ile160=) | |
14 | g.24256073G>T | CA485663641 | TGM1 | c.1407C>A (p.Ile469=) c.81C>A (p.Ile27=) c.480C>A (p.Ile160=) | gnomAD v4 |
14 | g.24256073_24256074insC | CA612959139 | TGM1 | c.1406_1407insG (p.Ile469MetfsTer29) c.80_81insG (p.Ile27MetfsTer29) c.479_480insG (p.Ile160MetfsTer29) | dbSNP gnomAD v2 |
14 | g.24256074A= | CA2123832625 | TGM1 | c.1406T= (p.Ile469=) c.80T= (p.Ile27=) c.479T= (p.Ile160=) | |
14 | g.24256074A>C | CA389257088 | TGM1 | c.1406T>G (p.Ile469Ser) c.80T>G (p.Ile27Ser) c.479T>G (p.Ile160Ser) | |
14 | g.24256074A>G | CA7131090 | TGM1 | c.1406T>C (p.Ile469Thr) c.80T>C (p.Ile27Thr) c.479T>C (p.Ile160Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.24256074A>T | CA389257091 | TGM1 | c.1406T>A (p.Ile469Asn) c.80T>A (p.Ile27Asn) c.479T>A (p.Ile160Asn) | |
14 | g.24256075T>A | CA389257108 | TGM1 | c.1405A>T (p.Ile469Phe) c.79A>T (p.Ile27Phe) c.478A>T (p.Ile160Phe) | |
14 | g.24256075T>C | CA389257119 | TGM1 | c.1405A>G (p.Ile469Val) c.79A>G (p.Ile27Val) c.478A>G (p.Ile160Val) | |
14 | g.24256075T>G | CA389257129 | TGM1 | c.1405A>C (p.Ile469Leu) c.79A>C (p.Ile27Leu) c.478A>C (p.Ile160Leu) | |
14 | g.24256076G>A | CA485663642 | TGM1 | c.1404C>T (p.Gly468=) c.78C>T (p.Gly26=) c.477C>T (p.Gly159=) | gnomAD v4 |
14 | g.24256076G>C | CA485663643 | TGM1 | c.1404C>G (p.Gly468=) c.78C>G (p.Gly26=) c.477C>G (p.Gly159=) | gnomAD v4 |
14 | g.24256076G>T | CA485663644 | TGM1 | c.1404C>A (p.Gly468=) c.78C>A (p.Gly26=) c.477C>A (p.Gly159=) | gnomAD v4 |
14 | g.24256077C>A | CA389257138 | TGM1 | c.1403G>T (p.Gly468Val) c.77G>T (p.Gly26Val) c.476G>T (p.Gly159Val) | gnomAD v4 |
14 | g.24256077C= | CA2123832632 | TGM1 | c.1403G= (p.Gly468=) c.77G= (p.Gly26=) c.476G= (p.Gly159=) | |
14 | g.24256077C>G | CA389257149 | TGM1 | c.1403G>C (p.Gly468Ala) c.77G>C (p.Gly26Ala) c.476G>C (p.Gly159Ala) | |
14 | g.24256077C>T | CA257893899 | TGM1 | c.1403G>A (p.Gly468Asp) c.77G>A (p.Gly26Asp) c.476G>A (p.Gly159Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256078C>A | CA389257177 | TGM1 | c.1403-1G>T (n.1403-1G>T) c.77-1G>T (n.77-1G>T) c.476-1G>T (n.476-1G>T) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256078C= | CA2123832641 | TGM1 | c.1403-1G= (n.1403-1G=) c.77-1G= (n.77-1G=) c.476-1G= (n.476-1G=) | |
14 | g.24256078C>G | CA389257180 | TGM1 | c.1403-1G>C (n.1403-1G>C) c.77-1G>C (n.77-1G>C) c.476-1G>C (n.476-1G>C) | |
14 | g.24256078C>T | CA389257181 | TGM1 | c.1403-1G>A (n.1403-1G>A) c.77-1G>A (n.77-1G>A) c.476-1G>A (n.476-1G>A) | |
14 | g.24256079T>A | CA389257189 | TGM1 | c.1403-2A>T (n.1403-2A>T) c.77-2A>T (n.77-2A>T) c.476-2A>T (n.476-2A>T) | |
14 | g.24256079T>C | CA389257186 | TGM1 | c.1403-2A>G (n.1403-2A>G) c.77-2A>G (n.77-2A>G) c.476-2A>G (n.476-2A>G) | |
14 | g.24256079T>G | CA389257184 | TGM1 | c.1403-2A>C (n.1403-2A>C) c.77-2A>C (n.77-2A>C) c.476-2A>C (n.476-2A>C) | |
14 | g.24256080A= | CA2123832647 | TGM1 | c.1403-3T= (n.1403-3T=) c.77-3T= (n.77-3T=) c.476-3T= (n.476-3T=) | |
14 | g.24256080A>G | CA704350349 | TGM1 | c.1403-3T>C (n.1403-3T>C) c.77-3T>C (n.77-3T>C) c.476-3T>C (n.476-3T>C) | dbSNP gnomAD v4 |
14 | g.24256081G>C | CA2575493855 | TGM1 | c.1403-4C>G (n.1403-4C>G) c.77-4C>G (n.77-4C>G) c.476-4C>G (n.476-4C>G) | |
14 | g.24256081G>T | CA2624345720 | TGM1 | c.1403-4C>A (n.1403-4C>A) c.77-4C>A (n.77-4C>A) c.476-4C>A (n.476-4C>A) | gnomAD v4 |
14 | g.24256082A= | CA2123832650 | TGM1 | c.1403-5T= (n.1403-5T=) c.77-5T= (n.77-5T=) c.476-5T= (n.476-5T=) | |
14 | g.24256082A>G | CA612959140 | TGM1 | c.1403-5T>C (n.1403-5T>C) c.77-5T>C (n.77-5T>C) c.476-5T>C (n.476-5T>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256083G>A | CA2580087962 | TGM1 | c.1403-6C>T (n.1403-6C>T) c.77-6C>T (n.77-6C>T) c.476-6C>T (n.476-6C>T) | ClinVar |
14 | g.24256083G>T | CA2624345721 | TGM1 | c.1403-6C>A (n.1403-6C>A) c.77-6C>A (n.77-6C>A) c.476-6C>A (n.476-6C>A) | gnomAD v4 |
14 | g.24256084A>G | CA2580087963 | TGM1 | c.1403-7T>C (n.1403-7T>C) c.77-7T>C (n.77-7T>C) c.476-7T>C (n.476-7T>C) | ClinVar gnomAD v4 |
14 | g.24256085G>A | CA2624345722 | TGM1 | c.1403-8C>T (n.1403-8C>T) c.77-8C>T (n.77-8C>T) c.476-8C>T (n.476-8C>T) | gnomAD v4 |
14 | g.24256085G>T | CA2624345723 | TGM1 | c.1403-8C>A (n.1403-8C>A) c.77-8C>A (n.77-8C>A) c.476-8C>A (n.476-8C>A) | gnomAD v4 |
14 | g.24256086T>C | CA2624345724 | TGM1 | c.1403-9A>G (n.1403-9A>G) c.77-9A>G (n.77-9A>G) c.476-9A>G (n.476-9A>G) | gnomAD v4 |
14 | g.24256086T>G | CA2624345725 | TGM1 | c.1403-9A>C (n.1403-9A>C) c.77-9A>C (n.77-9A>C) c.476-9A>C (n.476-9A>C) | gnomAD v4 |
14 | g.24256087G>T | CA2624345726 | TGM1 | c.1403-10C>A (n.1403-10C>A) c.77-10C>A (n.77-10C>A) c.476-10C>A (n.476-10C>A) | ClinVar gnomAD v4 |
14 | g.24256088A>G | CA2624345727 | TGM1 | c.1403-11T>C (n.1403-11T>C) c.77-11T>C (n.77-11T>C) c.476-11T>C (n.476-11T>C) | gnomAD v4 |
14 | g.24256088A>T | CA2739277834 | TGM1 | c.1403-11T>A (n.1403-11T>A) c.77-11T>A (n.77-11T>A) c.476-11T>A (n.476-11T>A) | ClinVar |
14 | g.24256089G>A | CA2624345729 | TGM1 | c.1403-12C>T (n.1403-12C>T) c.77-12C>T (n.77-12C>T) c.476-12C>T (n.476-12C>T) | gnomAD v4 |
14 | g.24256089G>T | CA2624345728 | TGM1 | c.1403-12C>A (n.1403-12C>A) c.77-12C>A (n.77-12C>A) c.476-12C>A (n.476-12C>A) | gnomAD v4 |
14 | g.24256090G>A | CA2624345730 | TGM1 | c.1403-13C>T (n.1403-13C>T) c.77-13C>T (n.77-13C>T) c.476-13C>T (n.476-13C>T) | ClinVar gnomAD v4 |
14 | g.24256090G>T | CA2624345731 | TGM1 | c.1403-13C>A (n.1403-13C>A) c.77-13C>A (n.77-13C>A) c.476-13C>A (n.476-13C>A) | gnomAD v4 |
14 | g.24256091C>A | CA2624345732 | TGM1 | c.1403-14G>T (n.1403-14G>T) c.77-14G>T (n.77-14G>T) c.476-14G>T (n.476-14G>T) | gnomAD v4 |
14 | g.24256091C= | CA2123832655 | TGM1 | c.1403-14G= (n.1403-14G=) c.77-14G= (n.77-14G=) c.476-14G= (n.476-14G=) | |
14 | g.24256091C>T | CA257893902 | TGM1 | c.1403-14G>A (n.1403-14G>A) c.77-14G>A (n.77-14G>A) c.476-14G>A (n.476-14G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256092G>A | CA257893917 | TGM1 | c.1403-15C>T (n.1403-15C>T) c.77-15C>T (n.77-15C>T) c.476-15C>T (n.476-15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256092G>C | CA2624345734 | TGM1 | c.1403-15C>G (n.1403-15C>G) c.77-15C>G (n.77-15C>G) c.476-15C>G (n.476-15C>G) | gnomAD v4 |
14 | g.24256092G= | CA2123832658 | TGM1 | c.1403-15C= (n.1403-15C=) c.77-15C= (n.77-15C=) c.476-15C= (n.476-15C=) | |
14 | g.24256092G>T | CA2624345735 | TGM1 | c.1403-15C>A (n.1403-15C>A) c.77-15C>A (n.77-15C>A) c.476-15C>A (n.476-15C>A) | gnomAD v4 |
14 | g.24256094del | CA2624345733 | TGM1 | c.1403-15del (n.1403-15del) c.77-15del (n.77-15del) c.476-15del (n.476-15del) | gnomAD v4 |
14 | g.24256093G>A | CA2624345736 | TGM1 | c.1403-16C>T (n.1403-16C>T) c.77-16C>T (n.77-16C>T) c.476-16C>T (n.476-16C>T) | gnomAD v4 |
14 | g.24256093G>T | CA2624345737 | TGM1 | c.1403-16C>A (n.1403-16C>A) c.77-16C>A (n.77-16C>A) c.476-16C>A (n.476-16C>A) | gnomAD v4 |
14 | g.24256094G>A | CA7131091 | TGM1 | c.1403-17C>T (n.1403-17C>T) c.77-17C>T (n.77-17C>T) c.476-17C>T (n.476-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256094G= | CA2123832660 | TGM1 | c.1403-17C= (n.1403-17C=) c.77-17C= (n.77-17C=) c.476-17C= (n.476-17C=) | |
14 | g.24256094G>T | CA2624345738 | TGM1 | c.1403-17C>A (n.1403-17C>A) c.77-17C>A (n.77-17C>A) c.476-17C>A (n.476-17C>A) | gnomAD v4 |
14 | g.24256095A>G | CA2624345740 | TGM1 | c.1403-18T>C (n.1403-18T>C) c.77-18T>C (n.77-18T>C) c.476-18T>C (n.476-18T>C) | gnomAD v4 |
14 | g.24256095A>T | CA2624345739 | TGM1 | c.1403-18T>A (n.1403-18T>A) c.77-18T>A (n.77-18T>A) c.476-18T>A (n.476-18T>A) | gnomAD v4 |
14 | g.24256096C>A | CA2624345741 | TGM1 | c.1403-19G>T (n.1403-19G>T) c.77-19G>T (n.77-19G>T) c.476-19G>T (n.476-19G>T) | gnomAD v4 |
14 | g.24256096C= | CA2123832665 | TGM1 | c.1403-19G= (n.1403-19G=) c.77-19G= (n.77-19G=) c.476-19G= (n.476-19G=) | |
14 | g.24256096C>G | CA612959141 | TGM1 | c.1403-19G>C (n.1403-19G>C) c.77-19G>C (n.77-19G>C) c.476-19G>C (n.476-19G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.24256096C>T | CA2624345742 | TGM1 | c.1403-19G>A (n.1403-19G>A) c.77-19G>A (n.77-19G>A) c.476-19G>A (n.476-19G>A) | gnomAD v4 |
14 | g.24256097_24256098delinsAG | CA2123832667 | TGM1 | c.1403-21_1403-20delinsCT (n.1403-21_1403-20delinsCT) c.77-21_77-20delinsCT (n.77-21_77-20delinsCT) c.476-21_476-20delinsCT (n.476-21_476-20delinsCT) | |
14 | g.24256098del | CA704350355 | TGM1 | c.1403-21del (n.1403-21del) c.77-21del (n.77-21del) c.476-21del (n.476-21del) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24256098G>A | CA612959142 | TGM1 | c.1403-21C>T (n.1403-21C>T) c.77-21C>T (n.77-21C>T) c.476-21C>T (n.476-21C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.24256098G= | CA2123832677 | TGM1 | c.1403-21C= (n.1403-21C=) c.77-21C= (n.77-21C=) c.476-21C= (n.476-21C=) | |
14 | g.24256098G>T | CA2624345743 | TGM1 | c.1403-21C>A (n.1403-21C>A) c.77-21C>A (n.77-21C>A) c.476-21C>A (n.476-21C>A) | gnomAD v4 |
14 | g.24256099A>C | CA2624345744 | TGM1 | c.1403-22T>G (n.1403-22T>G) c.77-22T>G (n.77-22T>G) c.476-22T>G (n.476-22T>G) | gnomAD v4 |
14 | g.24256099A>G | CA2624345745 | TGM1 | c.1403-22T>C (n.1403-22T>C) c.77-22T>C (n.77-22T>C) c.476-22T>C (n.476-22T>C) | gnomAD v4 |
14 | g.24256100G>A | CA257893933 | TGM1 | c.1403-23C>T (n.1403-23C>T) c.77-23C>T (n.77-23C>T) c.476-23C>T (n.476-23C>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24256100G= | CA2123832682 | TGM1 | c.1403-23C= (n.1403-23C=) c.77-23C= (n.77-23C=) c.476-23C= (n.476-23C=) | |
14 | g.24256100G>T | CA2624345746 | TGM1 | c.1403-23C>A (n.1403-23C>A) c.77-23C>A (n.77-23C>A) c.476-23C>A (n.476-23C>A) | gnomAD v4 |
14 | g.24256101G>C | CA704350357 | TGM1 | c.1403-24C>G (n.1403-24C>G) c.77-24C>G (n.77-24C>G) c.476-24C>G (n.476-24C>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.24256101G= | CA2123832686 | TGM1 | c.1403-24C= (n.1403-24C=) c.77-24C= (n.77-24C=) c.476-24C= (n.476-24C=) | |
14 | g.24256101G>T | CA2624345747 | TGM1 | c.1403-24C>A (n.1403-24C>A) c.77-24C>A (n.77-24C>A) c.476-24C>A (n.476-24C>A) | gnomAD v4 |