Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24256010G>ACA485663611TGM1c.1470C>T (p.Asp490=)
c.144C>T (p.Asp48=)
c.543C>T (p.Asp181=)
 dbSNP gnomAD v4
14g.24256010G>CCA389255874TGM1c.1470C>G (p.Asp490Glu)
c.144C>G (p.Asp48Glu)
c.543C>G (p.Asp181Glu)
14g.24256010G=CA2123832389TGM1c.1470C= (p.Asp490=)
c.144C= (p.Asp48=)
c.543C= (p.Asp181=)
14g.24256010G>TCA389255898TGM1c.1470C>A (p.Asp490Glu)
c.144C>A (p.Asp48Glu)
c.543C>A (p.Asp181Glu)
 gnomAD v4
14g.24256011T>ACA389255901TGM1c.1469A>T (p.Asp490Val)
c.143A>T (p.Asp48Val)
c.542A>T (p.Asp181Val)
 gnomAD v4
14g.24256011T>CCA256468TGM1c.1469A>G (p.Asp490Gly)
c.143A>G (p.Asp48Gly)
c.542A>G (p.Asp181Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256011T>GCA389255913TGM1c.1469A>C (p.Asp490Ala)
c.143A>C (p.Asp48Ala)
c.542A>C (p.Asp181Ala)
14g.24256011T=CA2123832400TGM1c.1469A= (p.Asp490=)
c.143A= (p.Asp48=)
c.542A= (p.Asp181=)
14g.24256012C>ACA257893767TGM1c.1468G>T (p.Asp490Tyr)
c.142G>T (p.Asp48Tyr)
c.541G>T (p.Asp181Tyr)
 dbSNP gnomAD v4
14g.24256012C=CA2123832412TGM1c.1468G= (p.Asp490=)
c.142G= (p.Asp48=)
c.541G= (p.Asp181=)
14g.24256012C>GCA389255949TGM1c.1468G>C (p.Asp490His)
c.142G>C (p.Asp48His)
c.541G>C (p.Asp181His)
14g.24256012C>TCA389255943TGM1c.1468G>A (p.Asp490Asn)
c.142G>A (p.Asp48Asn)
c.541G>A (p.Asp181Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24256013G>ACA7131080TGM1c.1467C>T (p.Tyr489=)
c.141C>T (p.Tyr47=)
c.540C>T (p.Tyr180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256013G>CCA389255969TGM1c.1467C>G (p.Tyr489Ter)
c.141C>G (p.Tyr47Ter)
c.540C>G (p.Tyr180Ter)
14g.24256013G=CA2123832418TGM1c.1467C= (p.Tyr489=)
c.141C= (p.Tyr47=)
c.540C= (p.Tyr180=)
14g.24256013G>TCA389255993TGM1c.1467C>A (p.Tyr489Ter)
c.141C>A (p.Tyr47Ter)
c.540C>A (p.Tyr180Ter)
 gnomAD v4
14g.24256014T>ACA389255996TGM1c.1466A>T (p.Tyr489Phe)
c.140A>T (p.Tyr47Phe)
c.539A>T (p.Tyr180Phe)
14g.24256014T>CCA389255997TGM1c.1466A>G (p.Tyr489Cys)
c.140A>G (p.Tyr47Cys)
c.539A>G (p.Tyr180Cys)
14g.24256014T>GCA389255998TGM1c.1466A>C (p.Tyr489Ser)
c.140A>C (p.Tyr47Ser)
c.539A>C (p.Tyr180Ser)
14g.24256015A>CCA389256001TGM1c.1465T>G (p.Tyr489Asp)
c.139T>G (p.Tyr47Asp)
c.538T>G (p.Tyr180Asp)
14g.24256015A>GCA389256009TGM1c.1465T>C (p.Tyr489His)
c.139T>C (p.Tyr47His)
c.538T>C (p.Tyr180His)
14g.24256015A>TCA389256025TGM1c.1465T>A (p.Tyr489Asn)
c.139T>A (p.Tyr47Asn)
c.538T>A (p.Tyr180Asn)
14g.24256016C>ACA389256029TGM1c.1464G>T (p.Lys488Asn)
c.138G>T (p.Lys46Asn)
c.537G>T (p.Lys179Asn)
 gnomAD v4
14g.24256016C=CA2123832426TGM1c.1464G= (p.Lys488=)
c.138G= (p.Lys46=)
c.537G= (p.Lys179=)
14g.24256016C>GCA389256050TGM1c.1464G>C (p.Lys488Asn)
c.138G>C (p.Lys46Asn)
c.537G>C (p.Lys179Asn)
14g.24256016C>TCA485663612TGM1c.1464G>A (p.Lys488=)
c.138G>A (p.Lys46=)
c.537G>A (p.Lys179=)
 dbSNP gnomAD v2 gnomAD v4
14g.24256017T>ACA389256058TGM1c.1463A>T (p.Lys488Met)
c.137A>T (p.Lys46Met)
c.536A>T (p.Lys179Met)
14g.24256017T>CCA389256057TGM1c.1463A>G (p.Lys488Arg)
c.137A>G (p.Lys46Arg)
c.536A>G (p.Lys179Arg)
 gnomAD v4
14g.24256017T>GCA389256056TGM1c.1463A>C (p.Lys488Thr)
c.137A>C (p.Lys46Thr)
c.536A>C (p.Lys179Thr)
14g.24256018T>ACA389256061TGM1c.1462A>T (p.Lys488Ter)
c.136A>T (p.Lys46Ter)
c.535A>T (p.Lys179Ter)
14g.24256018T>CCA389256063TGM1c.1462A>G (p.Lys488Glu)
c.136A>G (p.Lys46Glu)
c.535A>G (p.Lys179Glu)
14g.24256018T>GCA389256065TGM1c.1462A>C (p.Lys488Gln)
c.136A>C (p.Lys46Gln)
c.535A>C (p.Lys179Gln)
14g.24256019C>ACA389256074TGM1c.1461G>T (p.Met487Ile)
c.135G>T (p.Met45Ile)
c.534G>T (p.Met178Ile)
 gnomAD v4
14g.24256019C>GCA389256075TGM1c.1461G>C (p.Met487Ile)
c.135G>C (p.Met45Ile)
c.534G>C (p.Met178Ile)
 gnomAD v4
14g.24256019C>TCA389256079TGM1c.1461G>A (p.Met487Ile)
c.135G>A (p.Met45Ile)
c.534G>A (p.Met178Ile)
 gnomAD v4
14g.24256020A>CCA389256084TGM1c.1460T>G (p.Met487Arg)
c.134T>G (p.Met45Arg)
c.533T>G (p.Met178Arg)
 gnomAD v4
14g.24256020A>GCA389256085TGM1c.1460T>C (p.Met487Thr)
c.134T>C (p.Met45Thr)
c.533T>C (p.Met178Thr)
 gnomAD v4
14g.24256020A>TCA389256086TGM1c.1460T>A (p.Met487Lys)
c.134T>A (p.Met45Lys)
c.533T>A (p.Met178Lys)
14g.24256021T>ACA389256087TGM1c.1459A>T (p.Met487Leu)
c.133A>T (p.Met45Leu)
c.532A>T (p.Met178Leu)
 gnomAD v4
14g.24256021T>CCA389256092TGM1c.1459A>G (p.Met487Val)
c.133A>G (p.Met45Val)
c.532A>G (p.Met178Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24256021T>GCA389256100TGM1c.1459A>C (p.Met487Leu)
c.133A>C (p.Met45Leu)
c.532A>C (p.Met178Leu)
14g.24256021T=CA2123832434TGM1c.1459A= (p.Met487=)
c.133A= (p.Met45=)
c.532A= (p.Met178=)
14g.24256022G>ACA485663613TGM1c.1458C>T (p.Tyr486=)
c.132C>T (p.Tyr44=)
c.531C>T (p.Tyr177=)
 gnomAD v4 COSMIC
14g.24256022G>CCA389256104TGM1c.1458C>G (p.Tyr486Ter)
c.132C>G (p.Tyr44Ter)
c.531C>G (p.Tyr177Ter)
 gnomAD v4
14g.24256022G>TCA389256107TGM1c.1458C>A (p.Tyr486Ter)
c.132C>A (p.Tyr44Ter)
c.531C>A (p.Tyr177Ter)
 gnomAD v4
14g.24256023T>ACA389256118TGM1c.1457A>T (p.Tyr486Phe)
c.131A>T (p.Tyr44Phe)
c.530A>T (p.Tyr177Phe)
 gnomAD v4
14g.24256023T>CCA389256131TGM1c.1457A>G (p.Tyr486Cys)
c.131A>G (p.Tyr44Cys)
c.530A>G (p.Tyr177Cys)
14g.24256023T>GCA389256126TGM1c.1457A>C (p.Tyr486Ser)
c.131A>C (p.Tyr44Ser)
c.530A>C (p.Tyr177Ser)
14g.24256024A>CCA389256136TGM1c.1456T>G (p.Tyr486Asp)
c.130T>G (p.Tyr44Asp)
c.529T>G (p.Tyr177Asp)
14g.24256024A>GCA389256137TGM1c.1456T>C (p.Tyr486His)
c.130T>C (p.Tyr44His)
c.529T>C (p.Tyr177His)
 gnomAD v4
14g.24256024A>TCA389256138TGM1c.1456T>A (p.Tyr486Asn)
c.130T>A (p.Tyr44Asn)
c.529T>A (p.Tyr177Asn)
14g.24256025G>ACA485663614TGM1c.1455C>T (p.Val485=)
c.129C>T (p.Val43=)
c.528C>T (p.Val176=)
 gnomAD v4
14g.24256025G>CCA485663615TGM1c.1455C>G (p.Val485=)
c.129C>G (p.Val43=)
c.528C>G (p.Val176=)
14g.24256025G>TCA485663616TGM1c.1455C>A (p.Val485=)
c.129C>A (p.Val43=)
c.528C>A (p.Val176=)
 gnomAD v4
14g.24256026A>CCA389256162TGM1c.1454T>G (p.Val485Gly)
c.128T>G (p.Val43Gly)
c.527T>G (p.Val176Gly)
14g.24256026A>GCA389256194TGM1c.1454T>C (p.Val485Ala)
c.128T>C (p.Val43Ala)
c.527T>C (p.Val176Ala)
 gnomAD v4
14g.24256026A>TCA389256206TGM1c.1454T>A (p.Val485Asp)
c.128T>A (p.Val43Asp)
c.527T>A (p.Val176Asp)
 gnomAD v4
14g.24256027C>ACA389256230TGM1c.1453G>T (p.Val485Phe)
c.127G>T (p.Val43Phe)
c.526G>T (p.Val176Phe)
 gnomAD v4
14g.24256027C>GCA389256237TGM1c.1453G>C (p.Val485Leu)
c.127G>C (p.Val43Leu)
c.526G>C (p.Val176Leu)
 gnomAD v4
14g.24256027C>TCA389256244TGM1c.1453G>A (p.Val485Ile)
c.127G>A (p.Val43Ile)
c.526G>A (p.Val176Ile)
14g.24256028C>ACA7131081TGM1c.1452G>T (p.Leu484=)
c.126G>T (p.Leu42=)
c.525G>T (p.Leu175=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256028C=CA2123832438TGM1c.1452G= (p.Leu484=)
c.126G= (p.Leu42=)
c.525G= (p.Leu175=)
14g.24256028C>GCA257893811TGM1c.1452G>C (p.Leu484=)
c.126G>C (p.Leu42=)
c.525G>C (p.Leu175=)
 dbSNP
14g.24256028C>TCA485663617TGM1c.1452G>A (p.Leu484=)
c.126G>A (p.Leu42=)
c.525G>A (p.Leu175=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24256029A>CCA389256258TGM1c.1451T>G (p.Leu484Arg)
c.125T>G (p.Leu42Arg)
c.524T>G (p.Leu175Arg)
14g.24256029A>GCA389256256TGM1c.1451T>C (p.Leu484Pro)
c.125T>C (p.Leu42Pro)
c.524T>C (p.Leu175Pro)
 gnomAD v4
14g.24256029A>TCA389256254TGM1c.1451T>A (p.Leu484Gln)
c.125T>A (p.Leu42Gln)
c.524T>A (p.Leu175Gln)
14g.24256030G>ACA485663618TGM1c.1450C>T (p.Leu484=)
c.124C>T (p.Leu42=)
c.523C>T (p.Leu175=)
14g.24256030G>CCA389256261TGM1c.1450C>G (p.Leu484Val)
c.124C>G (p.Leu42Val)
c.523C>G (p.Leu175Val)
 gnomAD v4
14g.24256030G>TCA389256315TGM1c.1450C>A (p.Leu484Met)
c.124C>A (p.Leu42Met)
c.523C>A (p.Leu175Met)
 gnomAD v4
14g.24256031G>ACA485663619TGM1c.1449C>T (p.Gly483=)
c.123C>T (p.Gly41=)
c.522C>T (p.Gly174=)
 gnomAD v4
14g.24256031G>CCA257893812TGM1c.1449C>G (p.Gly483=)
c.123C>G (p.Gly41=)
c.522C>G (p.Gly174=)
 dbSNP
14g.24256031G=CA2123832443TGM1c.1449C= (p.Gly483=)
c.123C= (p.Gly41=)
c.522C= (p.Gly174=)
14g.24256031G>TCA485663620TGM1c.1449C>A (p.Gly483=)
c.123C>A (p.Gly41=)
c.522C>A (p.Gly174=)
 gnomAD v4
14g.24256032C>ACA389256337TGM1c.1448G>T (p.Gly483Val)
c.122G>T (p.Gly41Val)
c.521G>T (p.Gly174Val)
 gnomAD v4
14g.24256032C=CA2123832449TGM1c.1448G= (p.Gly483=)
c.122G= (p.Gly41=)
c.521G= (p.Gly174=)
14g.24256032C>GCA389256339TGM1c.1448G>C (p.Gly483Ala)
c.122G>C (p.Gly41Ala)
c.521G>C (p.Gly174Ala)
 dbSNP
14g.24256032C>TCA389256343TGM1c.1448G>A (p.Gly483Asp)
c.122G>A (p.Gly41Asp)
c.521G>A (p.Gly174Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.24256033delCA2624345718TGM1c.1448del (p.Gly483AlafsTer5)
c.122del (p.Gly41AlafsTer5)
c.521del (p.Gly174AlafsTer5)
 gnomAD v4
14g.24256033C>ACA389256355TGM1c.1447G>T (p.Gly483Cys)
c.121G>T (p.Gly41Cys)
c.520G>T (p.Gly174Cys)
 gnomAD v4
14g.24256033C=CA2123832454TGM1c.1447G= (p.Gly483=)
c.121G= (p.Gly41=)
c.520G= (p.Gly174=)
14g.24256033C>GCA389256358TGM1c.1447G>C (p.Gly483Arg)
c.121G>C (p.Gly41Arg)
c.520G>C (p.Gly174Arg)
 dbSNP
14g.24256033C>TCA389256361TGM1c.1447G>A (p.Gly483Ser)
c.121G>A (p.Gly41Ser)
c.520G>A (p.Gly174Ser)
 gnomAD v4
14g.24256034A>CCA389256362TGM1c.1446T>G (p.Asn482Lys)
c.120T>G (p.Asn40Lys)
c.519T>G (p.Asn173Lys)
14g.24256034A>GCA485663621TGM1c.1446T>C (p.Asn482=)
c.120T>C (p.Asn40=)
c.519T>C (p.Asn173=)
 gnomAD v4
14g.24256034A>TCA389256370TGM1c.1446T>A (p.Asn482Lys)
c.120T>A (p.Asn40Lys)
c.519T>A (p.Asn173Lys)
 gnomAD v4
14g.24256035T>ACA389256400TGM1c.1445A>T (p.Asn482Ile)
c.119A>T (p.Asn40Ile)
c.518A>T (p.Asn173Ile)
14g.24256035T>CCA257893813TGM1c.1445A>G (p.Asn482Ser)
c.119A>G (p.Asn40Ser)
c.518A>G (p.Asn173Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24256035T>GCA389256388TGM1c.1445A>C (p.Asn482Thr)
c.119A>C (p.Asn40Thr)
c.518A>C (p.Asn173Thr)
14g.24256035T=CA2123832463TGM1c.1445A= (p.Asn482=)
c.119A= (p.Asn40=)
c.518A= (p.Asn173=)
14g.24256036T>ACA389256410TGM1c.1444A>T (p.Asn482Tyr)
c.118A>T (p.Asn40Tyr)
c.517A>T (p.Asn173Tyr)
14g.24256036T>CCA7131082TGM1c.1444A>G (p.Asn482Asp)
c.118A>G (p.Asn40Asp)
c.517A>G (p.Asn173Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24256036T>GCA389256423TGM1c.1444A>C (p.Asn482His)
c.118A>C (p.Asn40His)
c.517A>C (p.Asn173His)
14g.24256036T=CA2123832474TGM1c.1444A= (p.Asn482=)
c.118A= (p.Asn40=)
c.517A= (p.Asn173=)
14g.24256037C>ACA389256432TGM1c.1443G>T (p.Lys481Asn)
c.117G>T (p.Lys39Asn)
c.516G>T (p.Lys172Asn)
 gnomAD v4
14g.24256037C>GCA389256434TGM1c.1443G>C (p.Lys481Asn)
c.117G>C (p.Lys39Asn)
c.516G>C (p.Lys172Asn)
 gnomAD v4
14g.24256037C>TCA485663622TGM1c.1443G>A (p.Lys481=)
c.117G>A (p.Lys39=)
c.516G>A (p.Lys172=)
 ClinVar dbSNP gnomAD v4
14g.24256038T>ACA389256440TGM1c.1442A>T (p.Lys481Met)
c.116A>T (p.Lys39Met)
c.515A>T (p.Lys172Met)
 gnomAD v4
14g.24256038T>CCA389256442TGM1c.1442A>G (p.Lys481Arg)
c.116A>G (p.Lys39Arg)
c.515A>G (p.Lys172Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.24256038T>GCA389256443TGM1c.1442A>C (p.Lys481Thr)
c.116A>C (p.Lys39Thr)
c.515A>C (p.Lys172Thr)
14g.24256038T=CA2123832483TGM1c.1442A= (p.Lys481=)
c.116A= (p.Lys39=)
c.515A= (p.Lys172=)
14g.24256039T>ACA389256445TGM1c.1441A>T (p.Lys481Ter)
c.115A>T (p.Lys39Ter)
c.514A>T (p.Lys172Ter)
14g.24256039T>CCA389256447TGM1c.1441A>G (p.Lys481Glu)
c.115A>G (p.Lys39Glu)
c.514A>G (p.Lys172Glu)
 gnomAD v4
14g.24256039T>GCA389256453TGM1c.1441A>C (p.Lys481Gln)
c.115A>C (p.Lys39Gln)
c.514A>C (p.Lys172Gln)
14g.24256040G>ACA485663623TGM1c.1440C>T (p.Ile480=)
c.114C>T (p.Ile38=)
c.513C>T (p.Ile171=)
 dbSNP gnomAD v2 gnomAD v4
14g.24256040G>CCA389256464TGM1c.1440C>G (p.Ile480Met)
c.114C>G (p.Ile38Met)
c.513C>G (p.Ile171Met)
 gnomAD v4
14g.24256040G=CA2123832488TGM1c.1440C= (p.Ile480=)
c.114C= (p.Ile38=)
c.513C= (p.Ile171=)
14g.24256040G>TCA485663624TGM1c.1440C>A (p.Ile480=)
c.114C>A (p.Ile38=)
c.513C>A (p.Ile171=)
 gnomAD v4
14g.24256041A>CCA389256503TGM1c.1439T>G (p.Ile480Ser)
c.113T>G (p.Ile38Ser)
c.512T>G (p.Ile171Ser)
14g.24256041A>GCA389256480TGM1c.1439T>C (p.Ile480Thr)
c.113T>C (p.Ile38Thr)
c.512T>C (p.Ile171Thr)
 gnomAD v4
14g.24256041A>TCA389256472TGM1c.1439T>A (p.Ile480Asn)
c.113T>A (p.Ile38Asn)
c.512T>A (p.Ile171Asn)
 gnomAD v4
14g.24256042T>ACA7131083TGM1c.1438A>T (p.Ile480Phe)
c.112A>T (p.Ile38Phe)
c.511A>T (p.Ile171Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256042T>CCA389256517TGM1c.1438A>G (p.Ile480Val)
c.112A>G (p.Ile38Val)
c.511A>G (p.Ile171Val)
 gnomAD v3 gnomAD v4
14g.24256042T>GCA389256527TGM1c.1438A>C (p.Ile480Leu)
c.112A>C (p.Ile38Leu)
c.511A>C (p.Ile171Leu)
 dbSNP gnomAD v2 gnomAD v4
14g.24256042T=CA2123832495TGM1c.1438A= (p.Ile480=)
c.112A= (p.Ile38=)
c.511A= (p.Ile171=)
14g.24256043G>ACA7131084TGM1c.1437C>T (p.Ser479=)
c.111C>T (p.Ser37=)
c.510C>T (p.Ser170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256043G>CCA485663626TGM1c.1437C>G (p.Ser479=)
c.111C>G (p.Ser37=)
c.510C>G (p.Ser170=)
14g.24256043G=CA2123832507TGM1c.1437C= (p.Ser479=)
c.111C= (p.Ser37=)
c.510C= (p.Ser170=)
14g.24256043G>TCA485663625TGM1c.1437C>A (p.Ser479=)
c.111C>A (p.Ser37=)
c.510C>A (p.Ser170=)
 gnomAD v4
14g.24256044dupCA915948911TGM1c.1437dup (p.Ile480HisfsTer18)
c.111dup (p.Ile38HisfsTer18)
c.510dup (p.Ile171HisfsTer18)
 ClinVar dbSNP gnomAD v4
14g.24256044G>ACA389256542TGM1c.1436C>T (p.Ser479Phe)
c.110C>T (p.Ser37Phe)
c.509C>T (p.Ser170Phe)
 gnomAD v4
14g.24256044G>CCA389256548TGM1c.1436C>G (p.Ser479Cys)
c.110C>G (p.Ser37Cys)
c.509C>G (p.Ser170Cys)
14g.24256044G>TCA389256561TGM1c.1436C>A (p.Ser479Tyr)
c.110C>A (p.Ser37Tyr)
c.509C>A (p.Ser170Tyr)
 gnomAD v4
14g.24256045A>CCA389256575TGM1c.1435T>G (p.Ser479Ala)
c.109T>G (p.Ser37Ala)
c.508T>G (p.Ser170Ala)
14g.24256045A>GCA389256584TGM1c.1435T>C (p.Ser479Pro)
c.109T>C (p.Ser37Pro)
c.508T>C (p.Ser170Pro)
 gnomAD v4
14g.24256045A>TCA389256590TGM1c.1435T>A (p.Ser479Thr)
c.109T>A (p.Ser37Thr)
c.508T>A (p.Ser170Thr)
14g.24256046C>ACA389256620TGM1c.1434G>T (p.Glu478Asp)
c.108G>T (p.Glu36Asp)
c.507G>T (p.Glu169Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.24256046C=CA2123832519TGM1c.1434G= (p.Glu478=)
c.108G= (p.Glu36=)
c.507G= (p.Glu169=)
14g.24256046C>GCA389256630TGM1c.1434G>C (p.Glu478Asp)
c.108G>C (p.Glu36Asp)
c.507G>C (p.Glu169Asp)
14g.24256046C>TCA7131085TGM1c.1434G>A (p.Glu478=)
c.108G>A (p.Glu36=)
c.507G>A (p.Glu169=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256047T>ACA389256647TGM1c.1433A>T (p.Glu478Val)
c.107A>T (p.Glu36Val)
c.506A>T (p.Glu169Val)
 gnomAD v4
14g.24256047T>CCA389256648TGM1c.1433A>G (p.Glu478Gly)
c.107A>G (p.Glu36Gly)
c.506A>G (p.Glu169Gly)
 gnomAD v4
14g.24256047T>GCA389256646TGM1c.1433A>C (p.Glu478Ala)
c.107A>C (p.Glu36Ala)
c.506A>C (p.Glu169Ala)
14g.24256048C>ACA389256656TGM1c.1432G>T (p.Glu478Ter)
c.106G>T (p.Glu36Ter)
c.505G>T (p.Glu169Ter)
 gnomAD v4
14g.24256048C>GCA389256655TGM1c.1432G>C (p.Glu478Gln)
c.106G>C (p.Glu36Gln)
c.505G>C (p.Glu169Gln)
 gnomAD v4
14g.24256048C>TCA389256666TGM1c.1432G>A (p.Glu478Lys)
c.106G>A (p.Glu36Lys)
c.505G>A (p.Glu169Lys)
 gnomAD v4
14g.24256049C>ACA485663627TGM1c.1431G>T (p.Val477=)
c.105G>T (p.Val35=)
c.504G>T (p.Val168=)
 gnomAD v4
14g.24256049C>GCA485663629TGM1c.1431G>C (p.Val477=)
c.105G>C (p.Val35=)
c.504G>C (p.Val168=)
14g.24256049C>TCA485663628TGM1c.1431G>A (p.Val477=)
c.105G>A (p.Val35=)
c.504G>A (p.Val168=)
 gnomAD v4
14g.24256049_24256051delinsAGCA2580087961TGM1c.1429_1431delinsCT (p.Val477LeufsTer11)
c.103_105delinsCT (p.Val35LeufsTer11)
c.502_504delinsCT (p.Val168LeufsTer11)
 ClinVar
14g.24256051_24256052delCA2697553835TGM1c.1430_1431del (p.Val477GlyfsTer20)
c.104_105del (p.Val35GlyfsTer20)
c.503_504del (p.Val168GlyfsTer20)
 ClinVar
14g.24256050A>CCA389256680TGM1c.1430T>G (p.Val477Gly)
c.104T>G (p.Val35Gly)
c.503T>G (p.Val168Gly)
14g.24256050A>GCA389256699TGM1c.1430T>C (p.Val477Ala)
c.104T>C (p.Val35Ala)
c.503T>C (p.Val168Ala)
 gnomAD v4
14g.24256050A>TCA389256710TGM1c.1430T>A (p.Val477Glu)
c.104T>A (p.Val35Glu)
c.503T>A (p.Val168Glu)
 gnomAD v4
14g.24256051C>ACA389256713TGM1c.1429G>T (p.Val477Leu)
c.103G>T (p.Val35Leu)
c.502G>T (p.Val168Leu)
 gnomAD v4
14g.24256051C>GCA389256714TGM1c.1429G>C (p.Val477Leu)
c.103G>C (p.Val35Leu)
c.502G>C (p.Val168Leu)
14g.24256051C>TCA389256715TGM1c.1429G>A (p.Val477Met)
c.103G>A (p.Val35Met)
c.502G>A (p.Val168Met)
 gnomAD v4
14g.24256052A=CA2123832520TGM1c.1428T= (p.Ser476=)
c.102T= (p.Ser34=)
c.501T= (p.Ser167=)
14g.24256052A>CCA485663630TGM1c.1428T>G (p.Ser476=)
c.102T>G (p.Ser34=)
c.501T>G (p.Ser167=)
14g.24256052A>GCA485663631TGM1c.1428T>C (p.Ser476=)
c.102T>C (p.Ser34=)
c.501T>C (p.Ser167=)
 dbSNP gnomAD v2 gnomAD v4
14g.24256052A>TCA485663632TGM1c.1428T>A (p.Ser476=)
c.102T>A (p.Ser34=)
c.501T>A (p.Ser167=)
14g.24256053G>ACA389256726TGM1c.1427C>T (p.Ser476Phe)
c.101C>T (p.Ser34Phe)
c.500C>T (p.Ser167Phe)
 gnomAD v4
14g.24256053G>CCA389256728TGM1c.1427C>G (p.Ser476Cys)
c.101C>G (p.Ser34Cys)
c.500C>G (p.Ser167Cys)
14g.24256053G>TCA389256730TGM1c.1427C>A (p.Ser476Tyr)
c.101C>A (p.Ser34Tyr)
c.500C>A (p.Ser167Tyr)
 gnomAD v4
14g.24256054A>CCA389256734TGM1c.1426T>G (p.Ser476Ala)
c.100T>G (p.Ser34Ala)
c.499T>G (p.Ser167Ala)
14g.24256054A>GCA389256735TGM1c.1426T>C (p.Ser476Pro)
c.100T>C (p.Ser34Pro)
c.499T>C (p.Ser167Pro)
14g.24256054A>TCA389256736TGM1c.1426T>A (p.Ser476Thr)
c.100T>A (p.Ser34Thr)
c.499T>A (p.Ser167Thr)
14g.24256055G>ACA7131086TGM1c.1425C>T (p.Cys475=)
c.99C>T (p.Cys33=)
c.498C>T (p.Cys166=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256055G>CCA389256744TGM1c.1425C>G (p.Cys475Trp)
c.99C>G (p.Cys33Trp)
c.498C>G (p.Cys166Trp)
14g.24256055G=CA2123832523TGM1c.1425C= (p.Cys475=)
c.99C= (p.Cys33=)
c.498C= (p.Cys166=)
14g.24256055G>TCA389256740TGM1c.1425C>A (p.Cys475Ter)
c.99C>A (p.Cys33Ter)
c.498C>A (p.Cys166Ter)
 gnomAD v4
14g.24256056C>ACA389256747TGM1c.1424G>T (p.Cys475Phe)
c.98G>T (p.Cys33Phe)
c.497G>T (p.Cys166Phe)
 gnomAD v4
14g.24256056C>GCA389256748TGM1c.1424G>C (p.Cys475Ser)
c.98G>C (p.Cys33Ser)
c.497G>C (p.Cys166Ser)
14g.24256056C>TCA389256753TGM1c.1424G>A (p.Cys475Tyr)
c.98G>A (p.Cys33Tyr)
c.497G>A (p.Cys166Tyr)
 gnomAD v4
14g.24256057A>CCA389256757TGM1c.1423T>G (p.Cys475Gly)
c.97T>G (p.Cys33Gly)
c.496T>G (p.Cys166Gly)
14g.24256057A>GCA389256759TGM1c.1423T>C (p.Cys475Arg)
c.97T>C (p.Cys33Arg)
c.496T>C (p.Cys166Arg)
 gnomAD v4
14g.24256057A>TCA389256762TGM1c.1423T>A (p.Cys475Ser)
c.97T>A (p.Cys33Ser)
c.496T>A (p.Cys166Ser)
14g.24256058G>ACA7131087TGM1c.1422C>T (p.Pro474=)
c.96C>T (p.Pro32=)
c.495C>T (p.Pro165=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24256058G>CCA485663634TGM1c.1422C>G (p.Pro474=)
c.96C>G (p.Pro32=)
c.495C>G (p.Pro165=)
 gnomAD v4
14g.24256058G=CA2123832527TGM1c.1422C= (p.Pro474=)
c.96C= (p.Pro32=)
c.495C= (p.Pro165=)
14g.24256058G>TCA485663633TGM1c.1422C>A (p.Pro474=)
c.96C>A (p.Pro32=)
c.495C>A (p.Pro165=)
 gnomAD v4
14g.24256058_24256059insTCA2695219159TGM1c.1421_1422insA (p.Cys475LeufsTer23)
c.95_96insA (p.Cys33LeufsTer23)
c.494_495insA (p.Cys166LeufsTer23)
14g.24256059G>ACA389256780TGM1c.1421C>T (p.Pro474Leu)
c.95C>T (p.Pro32Leu)
c.494C>T (p.Pro165Leu)
 dbSNP gnomAD v3 gnomAD v4
14g.24256059G>CCA389256790TGM1c.1421C>G (p.Pro474Arg)
c.95C>G (p.Pro32Arg)
c.494C>G (p.Pro165Arg)
14g.24256059G=CA2123832531TGM1c.1421C= (p.Pro474=)
c.95C= (p.Pro32=)
c.494C= (p.Pro165=)
14g.24256059G>TCA389256796TGM1c.1421C>A (p.Pro474His)
c.95C>A (p.Pro32His)
c.494C>A (p.Pro165His)
 gnomAD v4
14g.24256060G>ACA389256809TGM1c.1420C>T (p.Pro474Ser)
c.94C>T (p.Pro32Ser)
c.493C>T (p.Pro165Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24256060G>CCA389256810TGM1c.1420C>G (p.Pro474Ala)
c.94C>G (p.Pro32Ala)
c.493C>G (p.Pro165Ala)
14g.24256060G=CA2123832535TGM1c.1420C= (p.Pro474=)
c.94C= (p.Pro32=)
c.493C= (p.Pro165=)
14g.24256060G>TCA389256808TGM1c.1420C>A (p.Pro474Thr)
c.94C>A (p.Pro32Thr)
c.493C>A (p.Pro165Thr)
 gnomAD v4
14g.24256061G>ACA485663635TGM1c.1419C>T (p.Gly473=)
c.93C>T (p.Gly31=)
c.492C>T (p.Gly164=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24256061G>CCA485663637TGM1c.1419C>G (p.Gly473=)
c.93C>G (p.Gly31=)
c.492C>G (p.Gly164=)
14g.24256061G=CA2123832543TGM1c.1419C= (p.Gly473=)
c.93C= (p.Gly31=)
c.492C= (p.Gly164=)
14g.24256061G>TCA485663636TGM1c.1419C>A (p.Gly473=)
c.93C>A (p.Gly31=)
c.492C>A (p.Gly164=)
 gnomAD v4
14g.24256061_24256062delinsGCCA2123832539TGM1c.1418_1419delinsGC (p.Gly473=)
c.92_93delinsGC (p.Gly31=)
c.491_492delinsGC (p.Gly164=)
14g.24256062C>ACA257893871TGM1c.1418G>T (p.Gly473Val)
c.92G>T (p.Gly31Val)
c.491G>T (p.Gly164Val)
 dbSNP gnomAD v3 gnomAD v4
14g.24256062C=CA2123832558TGM1c.1418G= (p.Gly473=)
c.92G= (p.Gly31=)
c.491G= (p.Gly164=)
14g.24256062C>GCA389256825TGM1c.1418G>C (p.Gly473Ala)
c.92G>C (p.Gly31Ala)
c.491G>C (p.Gly164Ala)
14g.24256062C>TCA389256830TGM1c.1418G>A (p.Gly473Asp)
c.92G>A (p.Gly31Asp)
c.491G>A (p.Gly164Asp)
 gnomAD v4
14g.24256063delCA7131088TGM1c.1418del (p.Gly473AlafsTer15)
c.92del (p.Gly31AlafsTer15)
c.491del (p.Gly164AlafsTer15)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24256063C>ACA389256894TGM1c.1417G>T (p.Gly473Cys)
c.91G>T (p.Gly31Cys)
c.490G>T (p.Gly164Cys)
 gnomAD v4
14g.24256063C=CA2123832569TGM1c.1417G= (p.Gly473=)
c.91G= (p.Gly31=)
c.490G= (p.Gly164=)
14g.24256063C>GCA389256905TGM1c.1417G>C (p.Gly473Arg)
c.91G>C (p.Gly31Arg)
c.490G>C (p.Gly164Arg)
 ClinVar
14g.24256063C>TCA16042921TGM1c.1417G>A (p.Gly473Ser)
c.91G>A (p.Gly31Ser)
c.490G>A (p.Gly164Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24256063_24256066delinsCGCACA2123832567TGM1c.1414_1417delinsTGCG (p.Cys472=)
c.88_91delinsTGCG (p.Cys30=)
c.487_490delinsTGCG (p.Cys163=)
14g.24256063_24256073delinsCGCAGCAGAAGCA2123832568TGM1c.1407_1417delinsCTTCTGCTGCG (p.Ile469=)
c.81_91delinsCTTCTGCTGCG (p.Ile27=)
c.480_490delinsCTTCTGCTGCG (p.Ile160=)
14g.24256064G>ACA7131089TGM1c.1416C>T (p.Cys472=)
c.90C>T (p.Cys30=)
c.489C>T (p.Cys163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24256064G>CCA389256944TGM1c.1416C>G (p.Cys472Trp)
c.90C>G (p.Cys30Trp)
c.489C>G (p.Cys163Trp)
14g.24256064G=CA2123832582TGM1c.1416C= (p.Cys472=)
c.90C= (p.Cys30=)
c.489C= (p.Cys163=)
14g.24256064G>TCA389256950TGM1c.1416C>A (p.Cys472Ter)
c.90C>A (p.Cys30Ter)
c.489C>A (p.Cys163Ter)
 gnomAD v4
14g.24256068_24256070delCA2123832579TGM1c.1414_1416del (p.Cys472del)
c.88_90del (p.Cys30del)
c.487_489del (p.Cys163del)
 dbSNP
14g.24256064_24256073delinsACAGAGCCA16619856TGM1c.1407_1416delinsGCTCTGT (p.Ile469_Cys471delinsMetLeu)
c.81_90delinsGCTCTGT (p.Ile27_Cys29delinsMetLeu)
c.480_489delinsGCTCTGT (p.Ile160_Cys162delinsMetLeu)
 ClinVar dbSNP
14g.24256065C>ACA389256966TGM1c.1415G>T (p.Cys472Phe)
c.89G>T (p.Cys30Phe)
c.488G>T (p.Cys163Phe)
 gnomAD v4
14g.24256065C>GCA389256968TGM1c.1415G>C (p.Cys472Ser)
c.89G>C (p.Cys30Ser)
c.488G>C (p.Cys163Ser)
14g.24256065C>TCA389256969TGM1c.1415G>A (p.Cys472Tyr)
c.89G>A (p.Cys30Tyr)
c.488G>A (p.Cys163Tyr)
 gnomAD v4
14g.24256066A>CCA389257007TGM1c.1414T>G (p.Cys472Gly)
c.88T>G (p.Cys30Gly)
c.487T>G (p.Cys163Gly)
14g.24256066A>GCA389256998TGM1c.1414T>C (p.Cys472Arg)
c.88T>C (p.Cys30Arg)
c.487T>C (p.Cys163Arg)
 ClinVar
14g.24256066A>TCA389256980TGM1c.1414T>A (p.Cys472Ser)
c.88T>A (p.Cys30Ser)
c.487T>A (p.Cys163Ser)
14g.24256067G>ACA485663638TGM1c.1413C>T (p.Cys471=)
c.87C>T (p.Cys29=)
c.486C>T (p.Cys162=)
 ClinVar gnomAD v2 gnomAD v4
14g.24256067G>CCA389257023TGM1c.1413C>G (p.Cys471Trp)
c.87C>G (p.Cys29Trp)
c.486C>G (p.Cys162Trp)
14g.24256067G>TCA389257025TGM1c.1413C>A (p.Cys471Ter)
c.87C>A (p.Cys29Ter)
c.486C>A (p.Cys162Ter)
 gnomAD v4
14g.24256068C>ACA389257027TGM1c.1412G>T (p.Cys471Phe)
c.86G>T (p.Cys29Phe)
c.485G>T (p.Cys162Phe)
 gnomAD v4
14g.24256068C=CA2123832590TGM1c.1412G= (p.Cys471=)
c.86G= (p.Cys29=)
c.485G= (p.Cys162=)
14g.24256068C>GCA389257037TGM1c.1412G>C (p.Cys471Ser)
c.86G>C (p.Cys29Ser)
c.485G>C (p.Cys162Ser)
14g.24256068C>TCA389257047TGM1c.1412G>A (p.Cys471Tyr)
c.86G>A (p.Cys29Tyr)
c.485G>A (p.Cys162Tyr)
 dbSNP gnomAD v2 gnomAD v4
14g.24256068_24256071delCA612959137TGM1c.1409_1412del (p.Phe470SerfsTer17)
c.83_86del (p.Phe28SerfsTer17)
c.482_485del (p.Phe161SerfsTer17)
 gnomAD v2
14g.24256069A=CA2123832594TGM1c.1411T= (p.Cys471=)
c.85T= (p.Cys29=)
c.484T= (p.Cys162=)
14g.24256069A>CCA389257050TGM1c.1411T>G (p.Cys471Gly)
c.85T>G (p.Cys29Gly)
c.484T>G (p.Cys162Gly)
14g.24256069A>GCA389257051TGM1c.1411T>C (p.Cys471Arg)
c.85T>C (p.Cys29Arg)
c.484T>C (p.Cys162Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.24256069A>TCA389257053TGM1c.1411T>A (p.Cys471Ser)
c.85T>A (p.Cys29Ser)
c.484T>A (p.Cys162Ser)
14g.24256072_24256074delCA2624345719TGM1c.1409_1411del (p.Phe470del)
c.83_85del (p.Phe28del)
c.482_484del (p.Phe161del)
 gnomAD v4
14g.24256070G>ACA485663639TGM1c.1410C>T (p.Phe470=)
c.84C>T (p.Phe28=)
c.483C>T (p.Phe161=)
 gnomAD v4
14g.24256070G>CCA389257059TGM1c.1410C>G (p.Phe470Leu)
c.84C>G (p.Phe28Leu)
c.483C>G (p.Phe161Leu)
14g.24256070G>TCA389257060TGM1c.1410C>A (p.Phe470Leu)
c.84C>A (p.Phe28Leu)
c.483C>A (p.Phe161Leu)
 gnomAD v4
14g.24256070_24256071delinsGACA2123832597TGM1c.1409_1410delinsTC (p.Phe470=)
c.83_84delinsTC (p.Phe28=)
c.482_483delinsTC (p.Phe161=)
14g.24256071A>CCA389257061TGM1c.1409T>G (p.Phe470Cys)
c.83T>G (p.Phe28Cys)
c.482T>G (p.Phe161Cys)
14g.24256071A>GCA389257062TGM1c.1409T>C (p.Phe470Ser)
c.83T>C (p.Phe28Ser)
c.482T>C (p.Phe161Ser)
14g.24256071A>TCA389257067TGM1c.1409T>A (p.Phe470Tyr)
c.83T>A (p.Phe28Tyr)
c.482T>A (p.Phe161Tyr)
14g.24256072delCA612959138TGM1c.1409del (p.Phe470SerfsTer18)
c.83del (p.Phe28SerfsTer18)
c.482del (p.Phe161SerfsTer18)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24256072A=CA2123832609TGM1c.1408T= (p.Phe470=)
c.82T= (p.Phe28=)
c.481T= (p.Phe161=)
14g.24256072A>CCA389257077TGM1c.1408T>G (p.Phe470Val)
c.82T>G (p.Phe28Val)
c.481T>G (p.Phe161Val)
14g.24256072A>GCA389257085TGM1c.1408T>C (p.Phe470Leu)
c.82T>C (p.Phe28Leu)
c.481T>C (p.Phe161Leu)
 dbSNP gnomAD v3 gnomAD v4
14g.24256072A>TCA389257074TGM1c.1408T>A (p.Phe470Ile)
c.82T>A (p.Phe28Ile)
c.481T>A (p.Phe161Ile)
 gnomAD v4
14g.24256073G>ACA485663640TGM1c.1407C>T (p.Ile469=)
c.81C>T (p.Ile27=)
c.480C>T (p.Ile160=)
 gnomAD v4
14g.24256073G>CCA389257087TGM1c.1407C>G (p.Ile469Met)
c.81C>G (p.Ile27Met)
c.480C>G (p.Ile160Met)
14g.24256073G=CA2123832615TGM1c.1407C= (p.Ile469=)
c.81C= (p.Ile27=)
c.480C= (p.Ile160=)
14g.24256073G>TCA485663641TGM1c.1407C>A (p.Ile469=)
c.81C>A (p.Ile27=)
c.480C>A (p.Ile160=)
 gnomAD v4
14g.24256073_24256074insCCA612959139TGM1c.1406_1407insG (p.Ile469MetfsTer29)
c.80_81insG (p.Ile27MetfsTer29)
c.479_480insG (p.Ile160MetfsTer29)
 dbSNP gnomAD v2
14g.24256074A=CA2123832625TGM1c.1406T= (p.Ile469=)
c.80T= (p.Ile27=)
c.479T= (p.Ile160=)
14g.24256074A>CCA389257088TGM1c.1406T>G (p.Ile469Ser)
c.80T>G (p.Ile27Ser)
c.479T>G (p.Ile160Ser)
14g.24256074A>GCA7131090TGM1c.1406T>C (p.Ile469Thr)
c.80T>C (p.Ile27Thr)
c.479T>C (p.Ile160Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24256074A>TCA389257091TGM1c.1406T>A (p.Ile469Asn)
c.80T>A (p.Ile27Asn)
c.479T>A (p.Ile160Asn)
14g.24256075T>ACA389257108TGM1c.1405A>T (p.Ile469Phe)
c.79A>T (p.Ile27Phe)
c.478A>T (p.Ile160Phe)
14g.24256075T>CCA389257119TGM1c.1405A>G (p.Ile469Val)
c.79A>G (p.Ile27Val)
c.478A>G (p.Ile160Val)
14g.24256075T>GCA389257129TGM1c.1405A>C (p.Ile469Leu)
c.79A>C (p.Ile27Leu)
c.478A>C (p.Ile160Leu)
14g.24256076G>ACA485663642TGM1c.1404C>T (p.Gly468=)
c.78C>T (p.Gly26=)
c.477C>T (p.Gly159=)
 gnomAD v4
14g.24256076G>CCA485663643TGM1c.1404C>G (p.Gly468=)
c.78C>G (p.Gly26=)
c.477C>G (p.Gly159=)
 gnomAD v4
14g.24256076G>TCA485663644TGM1c.1404C>A (p.Gly468=)
c.78C>A (p.Gly26=)
c.477C>A (p.Gly159=)
 gnomAD v4
14g.24256077C>ACA389257138TGM1c.1403G>T (p.Gly468Val)
c.77G>T (p.Gly26Val)
c.476G>T (p.Gly159Val)
 gnomAD v4
14g.24256077C=CA2123832632TGM1c.1403G= (p.Gly468=)
c.77G= (p.Gly26=)
c.476G= (p.Gly159=)
14g.24256077C>GCA389257149TGM1c.1403G>C (p.Gly468Ala)
c.77G>C (p.Gly26Ala)
c.476G>C (p.Gly159Ala)
14g.24256077C>TCA257893899TGM1c.1403G>A (p.Gly468Asp)
c.77G>A (p.Gly26Asp)
c.476G>A (p.Gly159Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24256078C>ACA389257177TGM1c.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
14g.24256078C=CA2123832641TGM1c.1403-1G= (n.1403-1G=)
c.77-1G= (n.77-1G=)
c.476-1G= (n.476-1G=)
14g.24256078C>GCA389257180TGM1c.1403-1G>C (n.1403-1G>C)
c.77-1G>C (n.77-1G>C)
c.476-1G>C (n.476-1G>C)
14g.24256078C>TCA389257181TGM1c.1403-1G>A (n.1403-1G>A)
c.77-1G>A (n.77-1G>A)
c.476-1G>A (n.476-1G>A)
14g.24256079T>ACA389257189TGM1c.1403-2A>T (n.1403-2A>T)
c.77-2A>T (n.77-2A>T)
c.476-2A>T (n.476-2A>T)
14g.24256079T>CCA389257186TGM1c.1403-2A>G (n.1403-2A>G)
c.77-2A>G (n.77-2A>G)
c.476-2A>G (n.476-2A>G)
14g.24256079T>GCA389257184TGM1c.1403-2A>C (n.1403-2A>C)
c.77-2A>C (n.77-2A>C)
c.476-2A>C (n.476-2A>C)
14g.24256080A=CA2123832647TGM1c.1403-3T= (n.1403-3T=)
c.77-3T= (n.77-3T=)
c.476-3T= (n.476-3T=)
14g.24256080A>GCA704350349TGM1c.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
14g.24256081G>CCA2575493855TGM1c.1403-4C>G (n.1403-4C>G)
c.77-4C>G (n.77-4C>G)
c.476-4C>G (n.476-4C>G)
14g.24256081G>TCA2624345720TGM1c.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
14g.24256082A=CA2123832650TGM1c.1403-5T= (n.1403-5T=)
c.77-5T= (n.77-5T=)
c.476-5T= (n.476-5T=)
14g.24256082A>GCA612959140TGM1c.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
14g.24256083G>ACA2580087962TGM1c.1403-6C>T (n.1403-6C>T)
c.77-6C>T (n.77-6C>T)
c.476-6C>T (n.476-6C>T)
 ClinVar
14g.24256083G>TCA2624345721TGM1c.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
14g.24256084A>GCA2580087963TGM1c.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
14g.24256085G>ACA2624345722TGM1c.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
14g.24256085G>TCA2624345723TGM1c.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
14g.24256086T>CCA2624345724TGM1c.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
14g.24256086T>GCA2624345725TGM1c.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
14g.24256087G>TCA2624345726TGM1c.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
14g.24256088A>GCA2624345727TGM1c.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
14g.24256088A>TCA2739277834TGM1c.1403-11T>A (n.1403-11T>A)
c.77-11T>A (n.77-11T>A)
c.476-11T>A (n.476-11T>A)
 ClinVar
14g.24256089G>ACA2624345729TGM1c.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
14g.24256089G>TCA2624345728TGM1c.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
14g.24256090G>ACA2624345730TGM1c.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
14g.24256090G>TCA2624345731TGM1c.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
14g.24256091C>ACA2624345732TGM1c.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
14g.24256091C=CA2123832655TGM1c.1403-14G= (n.1403-14G=)
c.77-14G= (n.77-14G=)
c.476-14G= (n.476-14G=)
14g.24256091C>TCA257893902TGM1c.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
14g.24256092G>ACA257893917TGM1c.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
14g.24256092G>CCA2624345734TGM1c.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
14g.24256092G=CA2123832658TGM1c.1403-15C= (n.1403-15C=)
c.77-15C= (n.77-15C=)
c.476-15C= (n.476-15C=)
14g.24256092G>TCA2624345735TGM1c.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
14g.24256094delCA2624345733TGM1c.1403-15del (n.1403-15del)
c.77-15del (n.77-15del)
c.476-15del (n.476-15del)
 gnomAD v4
14g.24256093G>ACA2624345736TGM1c.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
14g.24256093G>TCA2624345737TGM1c.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
14g.24256094G>ACA7131091TGM1c.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
14g.24256094G=CA2123832660TGM1c.1403-17C= (n.1403-17C=)
c.77-17C= (n.77-17C=)
c.476-17C= (n.476-17C=)
14g.24256094G>TCA2624345738TGM1c.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
14g.24256095A>GCA2624345740TGM1c.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
14g.24256095A>TCA2624345739TGM1c.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
14g.24256096C>ACA2624345741TGM1c.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
14g.24256096C=CA2123832665TGM1c.1403-19G= (n.1403-19G=)
c.77-19G= (n.77-19G=)
c.476-19G= (n.476-19G=)
14g.24256096C>GCA612959141TGM1c.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
14g.24256096C>TCA2624345742TGM1c.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
14g.24256097_24256098delinsAGCA2123832667TGM1c.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)
14g.24256098delCA704350355TGM1c.1403-21del (n.1403-21del)
c.77-21del (n.77-21del)
c.476-21del (n.476-21del)
 dbSNP gnomAD v3 gnomAD v4
14g.24256098G>ACA612959142TGM1c.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
14g.24256098G=CA2123832677TGM1c.1403-21C= (n.1403-21C=)
c.77-21C= (n.77-21C=)
c.476-21C= (n.476-21C=)
14g.24256098G>TCA2624345743TGM1c.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
14g.24256099A>CCA2624345744TGM1c.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
14g.24256099A>GCA2624345745TGM1c.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
14g.24256100G>ACA257893933TGM1c.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
14g.24256100G=CA2123832682TGM1c.1403-23C= (n.1403-23C=)
c.77-23C= (n.77-23C=)
c.476-23C= (n.476-23C=)
14g.24256100G>TCA2624345746TGM1c.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
14g.24256101G>CCA704350357TGM1c.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
14g.24256101G=CA2123832686TGM1c.1403-24C= (n.1403-24C=)
c.77-24C= (n.77-24C=)
c.476-24C= (n.476-24C=)
14g.24256101G>TCA2624345747TGM1c.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
14g.24256102delCA2575493856TGM1c.1403-25del (n.1403-25del)
c.77-25del (n.77-25del)
c.476-25del (n.476-25del)
14g.24256102C>ACA2624345748TGM1c.1403-25G>T (n.1403-25G>T)
c.77-25G>T (n.77-25G>T)
c.476-25G>T (n.476-25G>T)
 gnomAD v4
14g.24256102C>TCA2624345749TGM1c.1403-25G>A (n.1403-25G>A)
c.77-25G>A (n.77-25G>A)
c.476-25G>A (n.476-25G>A)
 gnomAD v4
14g.24256104_24256105insCCA2624345750TGM1c.1403-28_1403-27insG (n.1403-28_1403-27insG)
c.77-28_77-27insG (n.77-28_77-27insG)
c.476-28_476-27insG (n.476-28_476-27insG)
 gnomAD v4
14g.24256105G>TCA2624345751TGM1c.1403-28C>A (n.1403-28C>A)
c.77-28C>A (n.77-28C>A)
c.476-28C>A (n.476-28C>A)
 gnomAD v4
14g.24256106A=CA2123832689TGM1c.1403-29T= (n.1403-29T=)
c.77-29T= (n.77-29T=)
c.476-29T= (n.476-29T=)
14g.24256106A>CCA612959143TGM1c.1403-29T>G (n.1403-29T>G)
c.77-29T>G (n.77-29T>G)
c.476-29T>G (n.476-29T>G)
 dbSNP gnomAD v2
14g.24256107delCA2624345753TGM1c.1403-30del (n.1403-30del)
c.77-30del (n.77-30del)
c.476-30del (n.476-30del)
 gnomAD v4
14g.24256107G>ACA704350358TGM1c.1403-30C>T (n.1403-30C>T)
c.77-30C>T (n.77-30C>T)
c.476-30C>T (n.476-30C>T)
 dbSNP
14g.24256107G=CA2123832693TGM1c.1403-30C= (n.1403-30C=)
c.77-30C= (n.77-30C=)
c.476-30C= (n.476-30C=)
14g.24256107G>TCA2624345752TGM1c.1403-30C>A (n.1403-30C>A)
c.77-30C>A (n.77-30C>A)
c.476-30C>A (n.476-30C>A)
 gnomAD v4
14g.24256109_24256111delCA2624345754TGM1c.1403-34_1403-32del (n.1403-34_1403-32del)
c.77-34_77-32del (n.77-34_77-32del)
c.476-34_476-32del (n.476-34_476-32del)
 gnomAD v4
14g.24256110C>ACA2624345756TGM1c.1403-33G>T (n.1403-33G>T)
c.77-33G>T (n.77-33G>T)
c.476-33G>T (n.476-33G>T)
 gnomAD v4
14g.24256110C>GCA2624345755TGM1c.1403-33G>C (n.1403-33G>C)
c.77-33G>C (n.77-33G>C)
c.476-33G>C (n.476-33G>C)
 gnomAD v4

Number of alleles fetched