Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189052755A>CCA430322929COL5A2c.2709T>G (p.Gly903=)
c.1548T>G (p.Gly516=)
c.2571T>G (p.Gly857=)
2g.189052755A>GCA430322928COL5A2c.2709T>C (p.Gly903=)
c.1548T>C (p.Gly516=)
c.2571T>C (p.Gly857=)
2g.189052755A>TCA430322927COL5A2c.2709T>A (p.Gly903=)
c.1548T>A (p.Gly516=)
c.2571T>A (p.Gly857=)
2g.189052756C>ACA349870548COL5A2c.2708G>T (p.Gly903Val)
c.1547G>T (p.Gly516Val)
c.2570G>T (p.Gly857Val)
2g.189052756C>GCA349870550COL5A2c.2708G>C (p.Gly903Ala)
c.1547G>C (p.Gly516Ala)
c.2570G>C (p.Gly857Ala)
2g.189052756C>TCA349870551COL5A2c.2708G>A (p.Gly903Asp)
c.1547G>A (p.Gly516Asp)
c.2570G>A (p.Gly857Asp)
2g.189052757C>ACA349870552COL5A2c.2707G>T (p.Gly903Cys)
c.1546G>T (p.Gly516Cys)
c.2569G>T (p.Gly857Cys)
2g.189052757C>GCA349870553COL5A2c.2707G>C (p.Gly903Arg)
c.1546G>C (p.Gly516Arg)
c.2569G>C (p.Gly857Arg)
2g.189052757C>TCA349870556COL5A2c.2707G>A (p.Gly903Ser)
c.1546G>A (p.Gly516Ser)
c.2569G>A (p.Gly857Ser)
2g.189052758T>ACA349870559COL5A2c.2706A>T (p.Gln902His)
c.1545A>T (p.Gln515His)
c.2568A>T (p.Gln856His)
2g.189052758T>CCA62596824COL5A2c.2706A>G (p.Gln902=)
c.1545A>G (p.Gln515=)
c.2568A>G (p.Gln856=)
 dbSNP gnomAD v4
2g.189052758T>GCA349870564COL5A2c.2706A>C (p.Gln902His)
c.1545A>C (p.Gln515His)
c.2568A>C (p.Gln856His)
2g.189052758T=CA1315425970COL5A2c.2706A= (p.Gln902=)
c.1545A= (p.Gln515=)
c.2568A= (p.Gln856=)
2g.189052759T>ACA349870565COL5A2c.2705A>T (p.Gln902Leu)
c.1544A>T (p.Gln515Leu)
c.2567A>T (p.Gln856Leu)
2g.189052759T>CCA349870566COL5A2c.2705A>G (p.Gln902Arg)
c.1544A>G (p.Gln515Arg)
c.2567A>G (p.Gln856Arg)
2g.189052759T>GCA349870567COL5A2c.2705A>C (p.Gln902Pro)
c.1544A>C (p.Gln515Pro)
c.2567A>C (p.Gln856Pro)
2g.189052760G>ACA349870574COL5A2c.2704C>T (p.Gln902Ter)
c.1543C>T (p.Gln515Ter)
c.2566C>T (p.Gln856Ter)
2g.189052760G>CCA349870577COL5A2c.2704C>G (p.Gln902Glu)
c.1543C>G (p.Gln515Glu)
c.2566C>G (p.Gln856Glu)
2g.189052760G>TCA349870572COL5A2c.2704C>A (p.Gln902Lys)
c.1543C>A (p.Gln515Lys)
c.2566C>A (p.Gln856Lys)
2g.189052761G>ACA430322931COL5A2c.2703C>T (p.Thr901=)
c.1542C>T (p.Thr514=)
c.2565C>T (p.Thr855=)
2g.189052761G>CCA430322933COL5A2c.2703C>G (p.Thr901=)
c.1542C>G (p.Thr514=)
c.2565C>G (p.Thr855=)
2g.189052761G>TCA430322932COL5A2c.2703C>A (p.Thr901=)
c.1542C>A (p.Thr514=)
c.2565C>A (p.Thr855=)
 ClinVar
2g.189052762G>ACA349870587COL5A2c.2702C>T (p.Thr901Ile)
c.1541C>T (p.Thr514Ile)
c.2564C>T (p.Thr855Ile)
2g.189052762G>CCA349870581COL5A2c.2702C>G (p.Thr901Ser)
c.1541C>G (p.Thr514Ser)
c.2564C>G (p.Thr855Ser)
2g.189052762G>TCA349870584COL5A2c.2702C>A (p.Thr901Asn)
c.1541C>A (p.Thr514Asn)
c.2564C>A (p.Thr855Asn)
2g.189052763T>ACA349870594COL5A2c.2701A>T (p.Thr901Ser)
c.1540A>T (p.Thr514Ser)
c.2563A>T (p.Thr855Ser)
2g.189052763T>CCA349870597COL5A2c.2701A>G (p.Thr901Ala)
c.1540A>G (p.Thr514Ala)
c.2563A>G (p.Thr855Ala)
 gnomAD v4
2g.189052763T>GCA349870602COL5A2c.2701A>C (p.Thr901Pro)
c.1540A>C (p.Thr514Pro)
c.2563A>C (p.Thr855Pro)
2g.189052764T>ACA430322935COL5A2c.2700A>T (p.Gly900=)
c.1539A>T (p.Gly513=)
c.2562A>T (p.Gly854=)
2g.189052764T>CCA430322936COL5A2c.2700A>G (p.Gly900=)
c.1539A>G (p.Gly513=)
c.2562A>G (p.Gly854=)
2g.189052764T>GCA430322937COL5A2c.2700A>C (p.Gly900=)
c.1539A>C (p.Gly513=)
c.2562A>C (p.Gly854=)
2g.189052765C>ACA349870604COL5A2c.2699G>T (p.Gly900Val)
c.1538G>T (p.Gly513Val)
c.2561G>T (p.Gly854Val)
2g.189052765C>GCA349870616COL5A2c.2699G>C (p.Gly900Ala)
c.1538G>C (p.Gly513Ala)
c.2561G>C (p.Gly854Ala)
2g.189052765C>TCA349870620COL5A2c.2699G>A (p.Gly900Glu)
c.1538G>A (p.Gly513Glu)
c.2561G>A (p.Gly854Glu)
2g.189052766C>ACA349870624COL5A2c.2698G>T (p.Gly900Ter)
c.1537G>T (p.Gly513Ter)
c.2560G>T (p.Gly854Ter)
2g.189052766C>GCA349870630COL5A2c.2698G>C (p.Gly900Arg)
c.1537G>C (p.Gly513Arg)
c.2560G>C (p.Gly854Arg)
2g.189052766C>TCA349870633COL5A2c.2698G>A (p.Gly900Arg)
c.1537G>A (p.Gly513Arg)
c.2560G>A (p.Gly854Arg)
 gnomAD v4
2g.189052767T>ACA430322938COL5A2c.2697A>T (p.Arg899=)
c.1536A>T (p.Arg512=)
c.2559A>T (p.Arg853=)
2g.189052767T>CCA430322939COL5A2c.2697A>G (p.Arg899=)
c.1536A>G (p.Arg512=)
c.2559A>G (p.Arg853=)
2g.189052767T>GCA430322940COL5A2c.2697A>C (p.Arg899=)
c.1536A>C (p.Arg512=)
c.2559A>C (p.Arg853=)
2g.189052768C>ACA349870636COL5A2c.2696G>T (p.Arg899Leu)
c.1535G>T (p.Arg512Leu)
c.2558G>T (p.Arg853Leu)
2g.189052768C>GCA349870640COL5A2c.2696G>C (p.Arg899Pro)
c.1535G>C (p.Arg512Pro)
c.2558G>C (p.Arg853Pro)
2g.189052768C>TCA349870644COL5A2c.2696G>A (p.Arg899Gln)
c.1535G>A (p.Arg512Gln)
c.2558G>A (p.Arg853Gln)
 gnomAD v4 COSMIC
2g.189052769G>ACA349870647COL5A2c.2695C>T (p.Arg899Ter)
c.1534C>T (p.Arg512Ter)
c.2557C>T (p.Arg853Ter)
 gnomAD v4
2g.189052769G>CCA349870648COL5A2c.2695C>G (p.Arg899Gly)
c.1534C>G (p.Arg512Gly)
c.2557C>G (p.Arg853Gly)
 dbSNP gnomAD v4
2g.189052769G=CA1315425971COL5A2c.2695C= (p.Arg899=)
c.1534C= (p.Arg512=)
c.2557C= (p.Arg853=)
2g.189052769G>TCA430322942COL5A2c.2695C>A (p.Arg899=)
c.1534C>A (p.Arg512=)
c.2557C>A (p.Arg853=)
 dbSNP gnomAD v4
2g.189052770A>CCA430322943COL5A2c.2694T>G (p.Gly898=)
c.1533T>G (p.Gly511=)
c.2556T>G (p.Gly852=)
2g.189052770A>GCA430322944COL5A2c.2694T>C (p.Gly898=)
c.1533T>C (p.Gly511=)
c.2556T>C (p.Gly852=)
 COSMIC
2g.189052770A>TCA430322945COL5A2c.2694T>A (p.Gly898=)
c.1533T>A (p.Gly511=)
c.2556T>A (p.Gly852=)
2g.189052771C>ACA349870650COL5A2c.2693G>T (p.Gly898Val)
c.1532G>T (p.Gly511Val)
c.2555G>T (p.Gly852Val)
2g.189052771C>GCA349870653COL5A2c.2693G>C (p.Gly898Ala)
c.1532G>C (p.Gly511Ala)
c.2555G>C (p.Gly852Ala)
2g.189052771C>TCA349870656COL5A2c.2693G>A (p.Gly898Asp)
c.1532G>A (p.Gly511Asp)
c.2555G>A (p.Gly852Asp)
2g.189052772C>ACA349870660COL5A2c.2692G>T (p.Gly898Cys)
c.1531G>T (p.Gly511Cys)
c.2554G>T (p.Gly852Cys)
2g.189052772C=CA1315425972COL5A2c.2692G= (p.Gly898=)
c.1531G= (p.Gly511=)
c.2554G= (p.Gly852=)
2g.189052772C>GCA349870662COL5A2c.2692G>C (p.Gly898Arg)
c.1531G>C (p.Gly511Arg)
c.2554G>C (p.Gly852Arg)
2g.189052772C>TCA2022231COL5A2c.2692G>A (p.Gly898Ser)
c.1531G>A (p.Gly511Ser)
c.2554G>A (p.Gly852Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052772_189052778delCA2586970975COL5A2c.2686_2692del (p.Lys896ValfsTer?)
c.1525_1531del (p.Lys509ValfsTer?)
c.2548_2554del (p.Lys850ValfsTer?)
2g.189052773A>CCA430322949COL5A2c.2691T>G (p.Gly897=)
c.1530T>G (p.Gly510=)
c.2553T>G (p.Gly851=)
2g.189052773A>GCA430322950COL5A2c.2691T>C (p.Gly897=)
c.1530T>C (p.Gly510=)
c.2553T>C (p.Gly851=)
 gnomAD v4 COSMIC
2g.189052773A>TCA430322951COL5A2c.2691T>A (p.Gly897=)
c.1530T>A (p.Gly510=)
c.2553T>A (p.Gly851=)
2g.189052774C>ACA349870673COL5A2c.2690G>T (p.Gly897Val)
c.1529G>T (p.Gly510Val)
c.2552G>T (p.Gly851Val)
2g.189052774C>GCA349870676COL5A2c.2690G>C (p.Gly897Ala)
c.1529G>C (p.Gly510Ala)
c.2552G>C (p.Gly851Ala)
2g.189052774C>TCA349870679COL5A2c.2690G>A (p.Gly897Asp)
c.1529G>A (p.Gly510Asp)
c.2552G>A (p.Gly851Asp)
 gnomAD v4
2g.189052775C>ACA349870682COL5A2c.2689G>T (p.Gly897Cys)
c.1528G>T (p.Gly510Cys)
c.2551G>T (p.Gly851Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.189052775C=CA1315425973COL5A2c.2689G= (p.Gly897=)
c.1528G= (p.Gly510=)
c.2551G= (p.Gly851=)
2g.189052775C>GCA349870684COL5A2c.2689G>C (p.Gly897Arg)
c.1528G>C (p.Gly510Arg)
c.2551G>C (p.Gly851Arg)
2g.189052775C>TCA349870687COL5A2c.2689G>A (p.Gly897Ser)
c.1528G>A (p.Gly510Ser)
c.2551G>A (p.Gly851Ser)
2g.189052776T>ACA349870693COL5A2c.2688A>T (p.Lys896Asn)
c.1527A>T (p.Lys509Asn)
c.2550A>T (p.Lys850Asn)
2g.189052776T>CCA430322952COL5A2c.2688A>G (p.Lys896=)
c.1527A>G (p.Lys509=)
c.2550A>G (p.Lys850=)
 dbSNP gnomAD v3 gnomAD v4
2g.189052776T>GCA349870690COL5A2c.2688A>C (p.Lys896Asn)
c.1527A>C (p.Lys509Asn)
c.2550A>C (p.Lys850Asn)
2g.189052776T=CA1315425974COL5A2c.2688A= (p.Lys896=)
c.1527A= (p.Lys509=)
c.2550A= (p.Lys850=)
2g.189052779delCA2662318285COL5A2c.2688del (p.Gly897ValfsTer?)
c.1527del (p.Gly510ValfsTer?)
c.2550del (p.Gly851ValfsTer?)
 gnomAD v4
2g.189052777T>ACA349870697COL5A2c.2687A>T (p.Lys896Ile)
c.1526A>T (p.Lys509Ile)
c.2549A>T (p.Lys850Ile)
2g.189052777T>CCA349870715COL5A2c.2687A>G (p.Lys896Arg)
c.1526A>G (p.Lys509Arg)
c.2549A>G (p.Lys850Arg)
2g.189052777T>GCA349870712COL5A2c.2687A>C (p.Lys896Thr)
c.1526A>C (p.Lys509Thr)
c.2549A>C (p.Lys850Thr)
2g.189052778T>ACA349870720COL5A2c.2686A>T (p.Lys896Ter)
c.1525A>T (p.Lys509Ter)
c.2548A>T (p.Lys850Ter)
2g.189052778T>CCA349870723COL5A2c.2686A>G (p.Lys896Glu)
c.1525A>G (p.Lys509Glu)
c.2548A>G (p.Lys850Glu)
2g.189052778T>GCA349870726COL5A2c.2686A>C (p.Lys896Gln)
c.1525A>C (p.Lys509Gln)
c.2548A>C (p.Lys850Gln)
2g.189052779T>ACA430322957COL5A2c.2685A>T (p.Leu895=)
c.1524A>T (p.Leu508=)
c.2547A>T (p.Leu849=)
2g.189052779T>CCA430322956COL5A2c.2685A>G (p.Leu895=)
c.1524A>G (p.Leu508=)
c.2547A>G (p.Leu849=)
 gnomAD v4
2g.189052779T>GCA430322955COL5A2c.2685A>C (p.Leu895=)
c.1524A>C (p.Leu508=)
c.2547A>C (p.Leu849=)
2g.189052780A>CCA349870728COL5A2c.2684T>G (p.Leu895Arg)
c.1523T>G (p.Leu508Arg)
c.2546T>G (p.Leu849Arg)
2g.189052780A>GCA349870730COL5A2c.2684T>C (p.Leu895Pro)
c.1523T>C (p.Leu508Pro)
c.2546T>C (p.Leu849Pro)
2g.189052780A>TCA349870733COL5A2c.2684T>A (p.Leu895Gln)
c.1523T>A (p.Leu508Gln)
c.2546T>A (p.Leu849Gln)
 gnomAD v4
2g.189052780_189052781insAAAGGTGCA2586970976COL5A2c.2683_2684insCACCTTT (p.Leu895ProfsTer?)
c.1522_1523insCACCTTT (p.Leu508ProfsTer?)
c.2545_2546insCACCTTT (p.Leu849ProfsTer?)
2g.189052781G>ACA430322958COL5A2c.2683C>T (p.Leu895=)
c.1522C>T (p.Leu508=)
c.2545C>T (p.Leu849=)
 dbSNP gnomAD v2
2g.189052781G>CCA349870735COL5A2c.2683C>G (p.Leu895Val)
c.1522C>G (p.Leu508Val)
c.2545C>G (p.Leu849Val)
2g.189052781G=CA1315425975COL5A2c.2683C= (p.Leu895=)
c.1522C= (p.Leu508=)
c.2545C= (p.Leu849=)
2g.189052781G>TCA349870744COL5A2c.2683C>A (p.Leu895Ile)
c.1522C>A (p.Leu508Ile)
c.2545C>A (p.Leu849Ile)
2g.189052782T>ACA430322963COL5A2c.2682A>T (p.Gly894=)
c.1521A>T (p.Gly507=)
c.2544A>T (p.Gly848=)
2g.189052782T>CCA430322960COL5A2c.2682A>G (p.Gly894=)
c.1521A>G (p.Gly507=)
c.2544A>G (p.Gly848=)
2g.189052782T>GCA430322962COL5A2c.2682A>C (p.Gly894=)
c.1521A>C (p.Gly507=)
c.2544A>C (p.Gly848=)
 gnomAD v4
2g.189052783C>ACA349870748COL5A2c.2681G>T (p.Gly894Val)
c.1520G>T (p.Gly507Val)
c.2543G>T (p.Gly848Val)
2g.189052783C>GCA349870753COL5A2c.2681G>C (p.Gly894Ala)
c.1520G>C (p.Gly507Ala)
c.2543G>C (p.Gly848Ala)
2g.189052783C>TCA349870754COL5A2c.2681G>A (p.Gly894Glu)
c.1520G>A (p.Gly507Glu)
c.2543G>A (p.Gly848Glu)
2g.189052784C>ACA349870760COL5A2c.2680G>T (p.Gly894Ter)
c.1519G>T (p.Gly507Ter)
c.2542G>T (p.Gly848Ter)
2g.189052784C>GCA349870759COL5A2c.2680G>C (p.Gly894Arg)
c.1519G>C (p.Gly507Arg)
c.2542G>C (p.Gly848Arg)
 ClinVar dbSNP
2g.189052784C>TCA349870757COL5A2c.2680G>A (p.Gly894Arg)
c.1519G>A (p.Gly507Arg)
c.2542G>A (p.Gly848Arg)
2g.189052785A>CCA430322964COL5A2c.2679T>G (p.Pro893=)
c.1518T>G (p.Pro506=)
c.2541T>G (p.Pro847=)
2g.189052785A>GCA430322965COL5A2c.2679T>C (p.Pro893=)
c.1518T>C (p.Pro506=)
c.2541T>C (p.Pro847=)
2g.189052785A>TCA430322966COL5A2c.2679T>A (p.Pro893=)
c.1518T>A (p.Pro506=)
c.2541T>A (p.Pro847=)
2g.189052786G>ACA349870762COL5A2c.2678C>T (p.Pro893Leu)
c.1517C>T (p.Pro506Leu)
c.2540C>T (p.Pro847Leu)
2g.189052786G>CCA349870763COL5A2c.2678C>G (p.Pro893Arg)
c.1517C>G (p.Pro506Arg)
c.2540C>G (p.Pro847Arg)
 gnomAD v4
2g.189052786G>TCA349870766COL5A2c.2678C>A (p.Pro893His)
c.1517C>A (p.Pro506His)
c.2540C>A (p.Pro847His)
2g.189052787G>ACA349870768COL5A2c.2677C>T (p.Pro893Ser)
c.1516C>T (p.Pro506Ser)
c.2539C>T (p.Pro847Ser)
2g.189052787G>CCA349870770COL5A2c.2677C>G (p.Pro893Ala)
c.1516C>G (p.Pro506Ala)
c.2539C>G (p.Pro847Ala)
2g.189052787G>TCA349870771COL5A2c.2677C>A (p.Pro893Thr)
c.1516C>A (p.Pro506Thr)
c.2539C>A (p.Pro847Thr)
2g.189052788A=CA1315425976COL5A2c.2676T= (p.Val892=)
c.1515T= (p.Val505=)
c.2538T= (p.Val846=)
2g.189052788A>CCA430322970COL5A2c.2676T>G (p.Val892=)
c.1515T>G (p.Val505=)
c.2538T>G (p.Val846=)
2g.189052788A>GCA430322971COL5A2c.2676T>C (p.Val892=)
c.1515T>C (p.Val505=)
c.2538T>C (p.Val846=)
2g.189052788A>TCA430322972COL5A2c.2676T>A (p.Val892=)
c.1515T>A (p.Val505=)
c.2538T>A (p.Val846=)
 dbSNP
2g.189052789A>CCA349870774COL5A2c.2675T>G (p.Val892Gly)
c.1514T>G (p.Val505Gly)
c.2537T>G (p.Val846Gly)
2g.189052789A>GCA349870775COL5A2c.2675T>C (p.Val892Ala)
c.1514T>C (p.Val505Ala)
c.2537T>C (p.Val846Ala)
2g.189052789A>TCA349870776COL5A2c.2675T>A (p.Val892Asp)
c.1514T>A (p.Val505Asp)
c.2537T>A (p.Val846Asp)
2g.189052790C>ACA349870780COL5A2c.2674G>T (p.Val892Phe)
c.1513G>T (p.Val505Phe)
c.2536G>T (p.Val846Phe)
2g.189052790C>GCA349870781COL5A2c.2674G>C (p.Val892Leu)
c.1513G>C (p.Val505Leu)
c.2536G>C (p.Val846Leu)
2g.189052790C>TCA349870783COL5A2c.2674G>A (p.Val892Ile)
c.1513G>A (p.Val505Ile)
c.2536G>A (p.Val846Ile)
 gnomAD v4
2g.189052791A=CA1315425977COL5A2c.2673T= (p.Gly891=)
c.1512T= (p.Gly504=)
c.2535T= (p.Gly845=)
2g.189052791A>CCA430322974COL5A2c.2673T>G (p.Gly891=)
c.1512T>G (p.Gly504=)
c.2535T>G (p.Gly845=)
2g.189052791A>GCA430322976COL5A2c.2673T>C (p.Gly891=)
c.1512T>C (p.Gly504=)
c.2535T>C (p.Gly845=)
 gnomAD v4
2g.189052791A>TCA2022232COL5A2c.2673T>A (p.Gly891=)
c.1512T>A (p.Gly504=)
c.2535T>A (p.Gly845=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052792C>ACA349870787COL5A2c.2672G>T (p.Gly891Val)
c.1511G>T (p.Gly504Val)
c.2534G>T (p.Gly845Val)
2g.189052792C>GCA349870790COL5A2c.2672G>C (p.Gly891Ala)
c.1511G>C (p.Gly504Ala)
c.2534G>C (p.Gly845Ala)
2g.189052792C>TCA349870788COL5A2c.2672G>A (p.Gly891Asp)
c.1511G>A (p.Gly504Asp)
c.2534G>A (p.Gly845Asp)
 COSMIC
2g.189052793C>ACA349870792COL5A2c.2671G>T (p.Gly891Cys)
c.1510G>T (p.Gly504Cys)
c.2533G>T (p.Gly845Cys)
2g.189052793C>GCA349870800COL5A2c.2671G>C (p.Gly891Arg)
c.1510G>C (p.Gly504Arg)
c.2533G>C (p.Gly845Arg)
2g.189052793C>TCA349870798COL5A2c.2671G>A (p.Gly891Ser)
c.1510G>A (p.Gly504Ser)
c.2533G>A (p.Gly845Ser)
2g.189052794A>CCA349870802COL5A2c.2670T>G (p.Asn890Lys)
c.1509T>G (p.Asn503Lys)
c.2532T>G (p.Asn844Lys)
2g.189052794A>GCA430322979COL5A2c.2670T>C (p.Asn890=)
c.1509T>C (p.Asn503=)
c.2532T>C (p.Asn844=)
 gnomAD v4
2g.189052794A>TCA349870804COL5A2c.2670T>A (p.Asn890Lys)
c.1509T>A (p.Asn503Lys)
c.2532T>A (p.Asn844Lys)
2g.189052795T>ACA349870806COL5A2c.2669A>T (p.Asn890Ile)
c.1508A>T (p.Asn503Ile)
c.2531A>T (p.Asn844Ile)
2g.189052795T>CCA349870808COL5A2c.2669A>G (p.Asn890Ser)
c.1508A>G (p.Asn503Ser)
c.2531A>G (p.Asn844Ser)
 dbSNP
2g.189052795T>GCA349870809COL5A2c.2669A>C (p.Asn890Thr)
c.1508A>C (p.Asn503Thr)
c.2531A>C (p.Asn844Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.189052795T=CA1315425978COL5A2c.2669A= (p.Asn890=)
c.1508A= (p.Asn503=)
c.2531A= (p.Asn844=)
2g.189052796delCA2753586109COL5A2c.2669del (p.Asn890MetfsTer6)
c.1508del (p.Asn503MetfsTer6)
c.2531del (p.Asn844MetfsTer6)
2g.189052796T>ACA349870811COL5A2c.2668A>T (p.Asn890Tyr)
c.1507A>T (p.Asn503Tyr)
c.2530A>T (p.Asn844Tyr)
2g.189052796T>CCA2022233COL5A2c.2668A>G (p.Asn890Asp)
c.1507A>G (p.Asn503Asp)
c.2530A>G (p.Asn844Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052796T>GCA349870814COL5A2c.2668A>C (p.Asn890His)
c.1507A>C (p.Asn503His)
c.2530A>C (p.Asn844His)
2g.189052796T=CA1315425979COL5A2c.2668A= (p.Asn890=)
c.1507A= (p.Asn503=)
c.2530A= (p.Asn844=)
2g.189052797A>CCA430322981COL5A2c.2667T>G (p.Pro889=)
c.1506T>G (p.Pro502=)
c.2529T>G (p.Pro843=)
2g.189052797A>GCA430322982COL5A2c.2667T>C (p.Pro889=)
c.1506T>C (p.Pro502=)
c.2529T>C (p.Pro843=)
2g.189052797A>TCA430322980COL5A2c.2667T>A (p.Pro889=)
c.1506T>A (p.Pro502=)
c.2529T>A (p.Pro843=)
2g.189052798G>ACA349870815COL5A2c.2666C>T (p.Pro889Leu)
c.1505C>T (p.Pro502Leu)
c.2528C>T (p.Pro843Leu)
 dbSNP
2g.189052798G>CCA349870816COL5A2c.2666C>G (p.Pro889Arg)
c.1505C>G (p.Pro502Arg)
c.2528C>G (p.Pro843Arg)
2g.189052798G>TCA349870817COL5A2c.2666C>A (p.Pro889His)
c.1505C>A (p.Pro502His)
c.2528C>A (p.Pro843His)
2g.189052799G>ACA349870819COL5A2c.2665C>T (p.Pro889Ser)
c.1504C>T (p.Pro502Ser)
c.2527C>T (p.Pro843Ser)
 COSMIC
2g.189052799G>CCA349870820COL5A2c.2665C>G (p.Pro889Ala)
c.1504C>G (p.Pro502Ala)
c.2527C>G (p.Pro843Ala)
2g.189052799G>TCA349870821COL5A2c.2665C>A (p.Pro889Thr)
c.1504C>A (p.Pro502Thr)
c.2527C>A (p.Pro843Thr)
2g.189052800A>CCA430322984COL5A2c.2664T>G (p.Gly888=)
c.1503T>G (p.Gly501=)
c.2526T>G (p.Gly842=)
2g.189052800A>GCA430322986COL5A2c.2664T>C (p.Gly888=)
c.1503T>C (p.Gly501=)
c.2526T>C (p.Gly842=)
2g.189052800A>TCA430322987COL5A2c.2664T>A (p.Gly888=)
c.1503T>A (p.Gly501=)
c.2526T>A (p.Gly842=)
2g.189052801C>ACA349870826COL5A2c.2663G>T (p.Gly888Val)
c.1502G>T (p.Gly501Val)
c.2525G>T (p.Gly842Val)
2g.189052801C>GCA349870822COL5A2c.2663G>C (p.Gly888Ala)
c.1502G>C (p.Gly501Ala)
c.2525G>C (p.Gly842Ala)
2g.189052801C>TCA349870824COL5A2c.2663G>A (p.Gly888Asp)
c.1502G>A (p.Gly501Asp)
c.2525G>A (p.Gly842Asp)
2g.189052802C>ACA349870828COL5A2c.2662G>T (p.Gly888Cys)
c.1501G>T (p.Gly501Cys)
c.2524G>T (p.Gly842Cys)
2g.189052802C>GCA349870829COL5A2c.2662G>C (p.Gly888Arg)
c.1501G>C (p.Gly501Arg)
c.2524G>C (p.Gly842Arg)
 COSMIC
2g.189052802C>TCA349870832COL5A2c.2662G>A (p.Gly888Ser)
c.1501G>A (p.Gly501Ser)
c.2524G>A (p.Gly842Ser)
2g.189052803C>ACA349870834COL5A2c.2662-1G>T (n.2662-1G>T)
c.1501-1G>T (n.1501-1G>T)
c.2524-1G>T (n.2524-1G>T)
2g.189052803C=CA1315425980COL5A2c.2662-1G= (n.2662-1G=)
c.1501-1G= (n.1501-1G=)
c.2524-1G= (n.2524-1G=)
2g.189052803C>GCA349870839COL5A2c.2662-1G>C (n.2662-1G>C)
c.1501-1G>C (n.1501-1G>C)
c.2524-1G>C (n.2524-1G>C)
2g.189052803C>TCA349870840COL5A2c.2662-1G>A (n.2662-1G>A)
c.1501-1G>A (n.1501-1G>A)
c.2524-1G>A (n.2524-1G>A)
2g.189052804T>ACA349870841COL5A2c.2662-2A>T (n.2662-2A>T)
c.1501-2A>T (n.1501-2A>T)
c.2524-2A>T (n.2524-2A>T)
2g.189052804T>CCA349870843COL5A2c.2662-2A>G (n.2662-2A>G)
c.1501-2A>G (n.1501-2A>G)
c.2524-2A>G (n.2524-2A>G)
 ClinVar
2g.189052804T>GCA349870845COL5A2c.2662-2A>C (n.2662-2A>C)
c.1501-2A>C (n.1501-2A>C)
c.2524-2A>C (n.2524-2A>C)
2g.189052804_189052808dupCA1315425981COL5A2c.2662-6_2662-2dup (n.2662-6_2662-2dup)
c.1501-6_1501-2dup (n.1501-6_1501-2dup)
c.2524-6_2524-2dup (n.2524-6_2524-2dup)
 dbSNP
2g.189052805G>ACA2567077919COL5A2c.2662-3C>T (n.2662-3C>T)
c.1501-3C>T (n.1501-3C>T)
c.2524-3C>T (n.2524-3C>T)
 dbSNP
2g.189052806A=CA1315425982COL5A2c.2662-4T= (n.2662-4T=)
c.1501-4T= (n.1501-4T=)
c.2524-4T= (n.2524-4T=)
2g.189052806A>CCA1315425983COL5A2c.2662-4T>G (n.2662-4T>G)
c.1501-4T>G (n.1501-4T>G)
c.2524-4T>G (n.2524-4T>G)
 dbSNP gnomAD v4
2g.189052808T>CCA62596845COL5A2c.2662-6A>G (n.2662-6A>G)
c.1501-6A>G (n.1501-6A>G)
c.2524-6A>G (n.2524-6A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189052808T>GCA2662318286COL5A2c.2662-6A>C (n.2662-6A>C)
c.1501-6A>C (n.1501-6A>C)
c.2524-6A>C (n.2524-6A>C)
 gnomAD v4
2g.189052808T=CA1315425984COL5A2c.2662-6A= (n.2662-6A=)
c.1501-6A= (n.1501-6A=)
c.2524-6A= (n.2524-6A=)
2g.189052810_189052813delCA2753586114COL5A2c.2662-10_2662-7del (n.2662-10_2662-7del)
c.1501-10_1501-7del (n.1501-10_1501-7del)
c.2524-10_2524-7del (n.2524-10_2524-7del)
2g.189052810G>TCA2577186589COL5A2c.2662-8C>A (n.2662-8C>A)
c.1501-8C>A (n.1501-8C>A)
c.2524-8C>A (n.2524-8C>A)
2g.189052811A=CA1315425985COL5A2c.2662-9T= (n.2662-9T=)
c.1501-9T= (n.1501-9T=)
c.2524-9T= (n.2524-9T=)
2g.189052811A>GCA538452193COL5A2c.2662-9T>C (n.2662-9T>C)
c.1501-9T>C (n.1501-9T>C)
c.2524-9T>C (n.2524-9T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189052814C>GCA2662318287COL5A2c.2662-12G>C (n.2662-12G>C)
c.1501-12G>C (n.1501-12G>C)
c.2524-12G>C (n.2524-12G>C)
 gnomAD v4
2g.189052815A=CA1315425986COL5A2c.2662-13T= (n.2662-13T=)
c.1501-13T= (n.1501-13T=)
c.2524-13T= (n.2524-13T=)
2g.189052815A>CCA2022234COL5A2c.2662-13T>G (n.2662-13T>G)
c.1501-13T>G (n.1501-13T>G)
c.2524-13T>G (n.2524-13T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052818C=CA1315425987COL5A2c.2662-16G= (n.2662-16G=)
c.1501-16G= (n.1501-16G=)
c.2524-16G= (n.2524-16G=)
2g.189052818C>GCA62596856COL5A2c.2662-16G>C (n.2662-16G>C)
c.1501-16G>C (n.1501-16G>C)
c.2524-16G>C (n.2524-16G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189052818C>TCA2662318288COL5A2c.2662-16G>A (n.2662-16G>A)
c.1501-16G>A (n.1501-16G>A)
c.2524-16G>A (n.2524-16G>A)
 gnomAD v4
2g.189052819A>CCA2662318289COL5A2c.2662-17T>G (n.2662-17T>G)
c.1501-17T>G (n.1501-17T>G)
c.2524-17T>G (n.2524-17T>G)
 gnomAD v4
2g.189052820A=CA1315425988COL5A2c.2662-18T= (n.2662-18T=)
c.1501-18T= (n.1501-18T=)
c.2524-18T= (n.2524-18T=)
2g.189052820A>TCA538452196COL5A2c.2662-18T>A (n.2662-18T>A)
c.1501-18T>A (n.1501-18T>A)
c.2524-18T>A (n.2524-18T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189052821A=CA1315425989COL5A2c.2662-19T= (n.2662-19T=)
c.1501-19T= (n.1501-19T=)
c.2524-19T= (n.2524-19T=)
2g.189052821A>CCA2022235COL5A2c.2662-19T>G (n.2662-19T>G)
c.1501-19T>G (n.1501-19T>G)
c.2524-19T>G (n.2524-19T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052822A>GCA2662318290COL5A2c.2662-20T>C (n.2662-20T>C)
c.1501-20T>C (n.1501-20T>C)
c.2524-20T>C (n.2524-20T>C)
 gnomAD v4
2g.189052822A>TCA2662318291COL5A2c.2662-20T>A (n.2662-20T>A)
c.1501-20T>A (n.1501-20T>A)
c.2524-20T>A (n.2524-20T>A)
 gnomAD v4
2g.189052823G>ACA538452198COL5A2c.2662-21C>T (n.2662-21C>T)
c.1501-21C>T (n.1501-21C>T)
c.2524-21C>T (n.2524-21C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189052823G=CA1315425990COL5A2c.2662-21C= (n.2662-21C=)
c.1501-21C= (n.1501-21C=)
c.2524-21C= (n.2524-21C=)
2g.189052824A=CA1315425991COL5A2c.2662-22T= (n.2662-22T=)
c.1501-22T= (n.1501-22T=)
c.2524-22T= (n.2524-22T=)
2g.189052824A>GCA2022236COL5A2c.2662-22T>C (n.2662-22T>C)
c.1501-22T>C (n.1501-22T>C)
c.2524-22T>C (n.2524-22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052824_189052825insCCAAACACACCCAACCA2753586116COL5A2c.2662-23_2662-22insGTTGGGTGTGTTTGG (n.2662-23_2662-22insGTTGGGTGTGTTTGG)
c.1501-23_1501-22insGTTGGGTGTGTTTGG (n.1501-23_1501-22insGTTGGGTGTGTTTGG)
c.2524-23_2524-22insGTTGGGTGTGTTTGG (n.2524-23_2524-22insGTTGGGTGTGTTTGG)
2g.189052825G>ACA2662318292COL5A2c.2662-23C>T (n.2662-23C>T)
c.1501-23C>T (n.1501-23C>T)
c.2524-23C>T (n.2524-23C>T)
 gnomAD v4
2g.189052826C>ACA2022237COL5A2c.2662-24G>T (n.2662-24G>T)
c.1501-24G>T (n.1501-24G>T)
c.2524-24G>T (n.2524-24G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052826C=CA1315425992COL5A2c.2662-24G= (n.2662-24G=)
c.1501-24G= (n.1501-24G=)
c.2524-24G= (n.2524-24G=)
2g.189052826C>GCA2662318293COL5A2c.2662-24G>C (n.2662-24G>C)
c.1501-24G>C (n.1501-24G>C)
c.2524-24G>C (n.2524-24G>C)
 gnomAD v4
2g.189052826C>TCA538452202COL5A2c.2662-24G>A (n.2662-24G>A)
c.1501-24G>A (n.1501-24G>A)
c.2524-24G>A (n.2524-24G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189052827A=CA1315425993COL5A2c.2662-25T= (n.2662-25T=)
c.1501-25T= (n.1501-25T=)
c.2524-25T= (n.2524-25T=)
2g.189052827A>GCA538452204COL5A2c.2662-25T>C (n.2662-25T>C)
c.1501-25T>C (n.1501-25T>C)
c.2524-25T>C (n.2524-25T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.189052828C=CA1315425994COL5A2c.2662-26G= (n.2662-26G=)
c.1501-26G= (n.1501-26G=)
c.2524-26G= (n.2524-26G=)
2g.189052828C>TCA2022238COL5A2c.2662-26G>A (n.2662-26G>A)
c.1501-26G>A (n.1501-26G>A)
c.2524-26G>A (n.2524-26G>A)
 dbSNP ExAC gnomAD v4
2g.189052829T>CCA2022239COL5A2c.2662-27A>G (n.2662-27A>G)
c.1501-27A>G (n.1501-27A>G)
c.2524-27A>G (n.2524-27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052829T=CA1315425995COL5A2c.2662-27A= (n.2662-27A=)
c.1501-27A= (n.1501-27A=)
c.2524-27A= (n.2524-27A=)
2g.189052831T>ACA2662318294COL5A2c.2662-29A>T (n.2662-29A>T)
c.1501-29A>T (n.1501-29A>T)
c.2524-29A>T (n.2524-29A>T)
 gnomAD v4
2g.189052831T>CCA2022240COL5A2c.2662-29A>G (n.2662-29A>G)
c.1501-29A>G (n.1501-29A>G)
c.2524-29A>G (n.2524-29A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052831T=CA1315425996COL5A2c.2662-29A= (n.2662-29A=)
c.1501-29A= (n.1501-29A=)
c.2524-29A= (n.2524-29A=)
2g.189052832A>TCA2662318295COL5A2c.2662-30T>A (n.2662-30T>A)
c.1501-30T>A (n.1501-30T>A)
c.2524-30T>A (n.2524-30T>A)
 gnomAD v4
2g.189052833G>ACA1315425998COL5A2c.2662-31C>T (n.2662-31C>T)
c.1501-31C>T (n.1501-31C>T)
c.2524-31C>T (n.2524-31C>T)
 dbSNP gnomAD v4
2g.189052833G=CA1315425997COL5A2c.2662-31C= (n.2662-31C=)
c.1501-31C= (n.1501-31C=)
c.2524-31C= (n.2524-31C=)
2g.189052833G>TCA538452207COL5A2c.2662-31C>A (n.2662-31C>A)
c.1501-31C>A (n.1501-31C>A)
c.2524-31C>A (n.2524-31C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189052834T>ACA1315426000COL5A2c.2662-32A>T (n.2662-32A>T)
c.1501-32A>T (n.1501-32A>T)
c.2524-32A>T (n.2524-32A>T)
 dbSNP
2g.189052834T=CA1315425999COL5A2c.2662-32A= (n.2662-32A=)
c.1501-32A= (n.1501-32A=)
c.2524-32A= (n.2524-32A=)
2g.189052835G>ACA2022241COL5A2c.2662-33C>T (n.2662-33C>T)
c.1501-33C>T (n.1501-33C>T)
c.2524-33C>T (n.2524-33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052835G=CA1315426001COL5A2c.2662-33C= (n.2662-33C=)
c.1501-33C= (n.1501-33C=)
c.2524-33C= (n.2524-33C=)
2g.189052836A>CCA2662318296COL5A2c.2662-34T>G (n.2662-34T>G)
c.1501-34T>G (n.1501-34T>G)
c.2524-34T>G (n.2524-34T>G)
 gnomAD v4
2g.189052837A=CA1315426002COL5A2c.2662-35T= (n.2662-35T=)
c.1501-35T= (n.1501-35T=)
c.2524-35T= (n.2524-35T=)
2g.189052837A>GCA2022242COL5A2c.2662-35T>C (n.2662-35T>C)
c.1501-35T>C (n.1501-35T>C)
c.2524-35T>C (n.2524-35T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052838G>ACA2753586118COL5A2c.2662-36C>T (n.2662-36C>T)
c.1501-36C>T (n.1501-36C>T)
c.2524-36C>T (n.2524-36C>T)
2g.189052838G=CA1315426003COL5A2c.2662-36C= (n.2662-36C=)
c.1501-36C= (n.1501-36C=)
c.2524-36C= (n.2524-36C=)
2g.189052838G>TCA538452210COL5A2c.2662-36C>A (n.2662-36C>A)
c.1501-36C>A (n.1501-36C>A)
c.2524-36C>A (n.2524-36C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189052839C>ACA538452212COL5A2c.2662-37G>T (n.2662-37G>T)
c.1501-37G>T (n.1501-37G>T)
c.2524-37G>T (n.2524-37G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189052839C=CA1315426004COL5A2c.2662-37G= (n.2662-37G=)
c.1501-37G= (n.1501-37G=)
c.2524-37G= (n.2524-37G=)
2g.189052839C>GCA2662318297COL5A2c.2662-37G>C (n.2662-37G>C)
c.1501-37G>C (n.1501-37G>C)
c.2524-37G>C (n.2524-37G>C)
 gnomAD v4
2g.189052843A=CA1315426005COL5A2c.2662-41T= (n.2662-41T=)
c.1501-41T= (n.1501-41T=)
c.2524-41T= (n.2524-41T=)
2g.189052843A>CCA762258174COL5A2c.2662-41T>G (n.2662-41T>G)
c.1501-41T>G (n.1501-41T>G)
c.2524-41T>G (n.2524-41T>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189052843A>GCA1315426006COL5A2c.2662-41T>C (n.2662-41T>C)
c.1501-41T>C (n.1501-41T>C)
c.2524-41T>C (n.2524-41T>C)
 dbSNP
2g.189052844G>ACA2662318298COL5A2c.2662-42C>T (n.2662-42C>T)
c.1501-42C>T (n.1501-42C>T)
c.2524-42C>T (n.2524-42C>T)
 gnomAD v4
2g.189052846G>ACA538452213COL5A2c.2662-44C>T (n.2662-44C>T)
c.1501-44C>T (n.1501-44C>T)
c.2524-44C>T (n.2524-44C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189052846G=CA1315426007COL5A2c.2662-44C= (n.2662-44C=)
c.1501-44C= (n.1501-44C=)
c.2524-44C= (n.2524-44C=)
2g.189052847G>ACA2022243COL5A2c.2662-45C>T (n.2662-45C>T)
c.1501-45C>T (n.1501-45C>T)
c.2524-45C>T (n.2524-45C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189052847G=CA1315426008COL5A2c.2662-45C= (n.2662-45C=)
c.1501-45C= (n.1501-45C=)
c.2524-45C= (n.2524-45C=)
2g.189052847G>TCA2662318299COL5A2c.2662-45C>A (n.2662-45C>A)
c.1501-45C>A (n.1501-45C>A)
c.2524-45C>A (n.2524-45C>A)
 gnomAD v4
2g.189052848C>TCA2662318300COL5A2c.2662-46G>A (n.2662-46G>A)
c.1501-46G>A (n.1501-46G>A)
c.2524-46G>A (n.2524-46G>A)
 gnomAD v4
2g.189052849T>CCA2022244COL5A2c.2662-47A>G (n.2662-47A>G)
c.1501-47A>G (n.1501-47A>G)
c.2524-47A>G (n.2524-47A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189052849T>GCA2662318301COL5A2c.2662-47A>C (n.2662-47A>C)
c.1501-47A>C (n.1501-47A>C)
c.2524-47A>C (n.2524-47A>C)
 gnomAD v4
2g.189052849T=CA1315426009COL5A2c.2662-47A= (n.2662-47A=)
c.1501-47A= (n.1501-47A=)
c.2524-47A= (n.2524-47A=)
2g.189052851A>TCA647367163COL5A2c.2662-49T>A (n.2662-49T>A)
c.1501-49T>A (n.1501-49T>A)
c.2524-49T>A (n.2524-49T>A)
 COSMIC
2g.189052853T>CCA2662318302COL5A2c.2662-51A>G (n.2662-51A>G)
c.1501-51A>G (n.1501-51A>G)
c.2524-51A>G (n.2524-51A>G)
 gnomAD v4
2g.189052854G>ACA2662318303COL5A2c.2662-52C>T (n.2662-52C>T)
c.1501-52C>T (n.1501-52C>T)
c.2524-52C>T (n.2524-52C>T)
 gnomAD v4
2g.189052854G>TCA2662318304COL5A2c.2662-52C>A (n.2662-52C>A)
c.1501-52C>A (n.1501-52C>A)
c.2524-52C>A (n.2524-52C>A)
 gnomAD v4
2g.189052855T>CCA1315426011COL5A2c.2662-53A>G (n.2662-53A>G)
c.1501-53A>G (n.1501-53A>G)
c.2524-53A>G (n.2524-53A>G)
 dbSNP gnomAD v4
2g.189052855T=CA1315426010COL5A2c.2662-53A= (n.2662-53A=)
c.1501-53A= (n.1501-53A=)
c.2524-53A= (n.2524-53A=)

Number of alleles fetched