Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.101761701_101761708delCA2620428759GNPTABc.2771_2778del (p.Gly924AlafsTer14)
c.2690_2697del (p.Gly897AlafsTer14)
c.2555_2562del (p.Gly852AlafsTer14)
c.1544_1551del (p.Gly515AlafsTer14)
 gnomAD v4
12g.101761702T>ACA386296380GNPTABc.2777A>T (p.Gln926Leu)
c.2696A>T (p.Gln899Leu)
c.2561A>T (p.Gln854Leu)
c.1550A>T (p.Gln517Leu)
 dbSNP
12g.101761702T>CCA386296381GNPTABc.2777A>G (p.Gln926Arg)
c.2696A>G (p.Gln899Arg)
c.2561A>G (p.Gln854Arg)
c.1550A>G (p.Gln517Arg)
12g.101761702T>GCA343382GNPTABc.2777A>C (p.Gln926Pro)
c.2696A>C (p.Gln899Pro)
c.2561A>C (p.Gln854Pro)
c.1550A>C (p.Gln517Pro)
 ClinVar dbSNP
12g.101761702T=CA2058953172GNPTABc.2777A= (p.Gln926=)
c.2696A= (p.Gln899=)
c.2561A= (p.Gln854=)
c.1550A= (p.Gln517=)
12g.101761703G>ACA386296382GNPTABc.2776C>T (p.Gln926Ter)
c.2695C>T (p.Gln899Ter)
c.2560C>T (p.Gln854Ter)
c.1549C>T (p.Gln517Ter)
12g.101761703G>CCA386296383GNPTABc.2776C>G (p.Gln926Glu)
c.2695C>G (p.Gln899Glu)
c.2560C>G (p.Gln854Glu)
c.1549C>G (p.Gln517Glu)
 gnomAD v4
12g.101761703G>TCA386296384GNPTABc.2776C>A (p.Gln926Lys)
c.2695C>A (p.Gln899Lys)
c.2560C>A (p.Gln854Lys)
c.1549C>A (p.Gln517Lys)
12g.101761704C>ACA386296386GNPTABc.2775G>T (p.Arg925Ser)
c.2694G>T (p.Arg898Ser)
c.2559G>T (p.Arg853Ser)
c.1548G>T (p.Arg516Ser)
12g.101761704C>GCA386296385GNPTABc.2775G>C (p.Arg925Ser)
c.2694G>C (p.Arg898Ser)
c.2559G>C (p.Arg853Ser)
c.1548G>C (p.Arg516Ser)
12g.101761704C>TCA481576824GNPTABc.2775G>A (p.Arg925=)
c.2694G>A (p.Arg898=)
c.2559G>A (p.Arg853=)
c.1548G>A (p.Arg516=)
 gnomAD v4 COSMIC
12g.101761705C>ACA386296387GNPTABc.2774G>T (p.Arg925Met)
c.2693G>T (p.Arg898Met)
c.2558G>T (p.Arg853Met)
c.1547G>T (p.Arg516Met)
12g.101761705C>GCA386296388GNPTABc.2774G>C (p.Arg925Thr)
c.2693G>C (p.Arg898Thr)
c.2558G>C (p.Arg853Thr)
c.1547G>C (p.Arg516Thr)
12g.101761705C>TCA386296389GNPTABc.2774G>A (p.Arg925Lys)
c.2693G>A (p.Arg898Lys)
c.2558G>A (p.Arg853Lys)
c.1547G>A (p.Arg516Lys)
12g.101761706T>ACA386296390GNPTABc.2773A>T (p.Arg925Trp)
c.2692A>T (p.Arg898Trp)
c.2557A>T (p.Arg853Trp)
c.1546A>T (p.Arg516Trp)
12g.101761706T>CCA386296391GNPTABc.2773A>G (p.Arg925Gly)
c.2692A>G (p.Arg898Gly)
c.2557A>G (p.Arg853Gly)
c.1546A>G (p.Arg516Gly)
12g.101761706T>GCA481576825GNPTABc.2773A>C (p.Arg925=)
c.2692A>C (p.Arg898=)
c.2557A>C (p.Arg853=)
c.1546A>C (p.Arg516=)
12g.101761707C>ACA481576826GNPTABc.2772G>T (p.Gly924=)
c.2691G>T (p.Gly897=)
c.2556G>T (p.Gly852=)
c.1545G>T (p.Gly515=)
12g.101761707C>GCA481576827GNPTABc.2772G>C (p.Gly924=)
c.2691G>C (p.Gly897=)
c.2556G>C (p.Gly852=)
c.1545G>C (p.Gly515=)
12g.101761707C>TCA481576828GNPTABc.2772G>A (p.Gly924=)
c.2691G>A (p.Gly897=)
c.2556G>A (p.Gly852=)
c.1545G>A (p.Gly515=)
12g.101761708C>ACA386296394GNPTABc.2771G>T (p.Gly924Val)
c.2690G>T (p.Gly897Val)
c.2555G>T (p.Gly852Val)
c.1544G>T (p.Gly515Val)
12g.101761708C>GCA386296393GNPTABc.2771G>C (p.Gly924Ala)
c.2690G>C (p.Gly897Ala)
c.2555G>C (p.Gly852Ala)
c.1544G>C (p.Gly515Ala)
12g.101761708C>TCA386296392GNPTABc.2771G>A (p.Gly924Glu)
c.2690G>A (p.Gly897Glu)
c.2555G>A (p.Gly852Glu)
c.1544G>A (p.Gly515Glu)
12g.101761709C>ACA386296395GNPTABc.2770G>T (p.Gly924Trp)
c.2689G>T (p.Gly897Trp)
c.2554G>T (p.Gly852Trp)
c.1543G>T (p.Gly515Trp)
12g.101761709C=CA2058953178GNPTABc.2770G= (p.Gly924=)
c.2689G= (p.Gly897=)
c.2554G= (p.Gly852=)
c.1543G= (p.Gly515=)
12g.101761709C>GCA386296396GNPTABc.2770G>C (p.Gly924Arg)
c.2689G>C (p.Gly897Arg)
c.2554G>C (p.Gly852Arg)
c.1543G>C (p.Gly515Arg)
12g.101761709C>TCA6746345GNPTABc.2770G>A (p.Gly924Arg)
c.2689G>A (p.Gly897Arg)
c.2554G>A (p.Gly852Arg)
c.1543G>A (p.Gly515Arg)
 dbSNP ExAC gnomAD v2
12g.101761710A>CCA481576829GNPTABc.2769T>G (p.Thr923=)
c.2688T>G (p.Thr896=)
c.2553T>G (p.Thr851=)
c.1542T>G (p.Thr514=)
12g.101761710A>GCA481576831GNPTABc.2769T>C (p.Thr923=)
c.2688T>C (p.Thr896=)
c.2553T>C (p.Thr851=)
c.1542T>C (p.Thr514=)
12g.101761710A>TCA481576830GNPTABc.2769T>A (p.Thr923=)
c.2688T>A (p.Thr896=)
c.2553T>A (p.Thr851=)
c.1542T>A (p.Thr514=)
12g.101761710_101761711insAAAATACA2620428760GNPTABc.2769_2770insATTTTT (p.Thr923_Gly924insIlePhe)
c.2688_2689insATTTTT (p.Thr896_Gly897insIlePhe)
c.2553_2554insATTTTT (p.Thr851_Gly852insIlePhe)
c.1542_1543insATTTTT (p.Thr514_Gly515insIlePhe)
 gnomAD v4
12g.101761711G>ACA386296397GNPTABc.2768C>T (p.Thr923Ile)
c.2687C>T (p.Thr896Ile)
c.2552C>T (p.Thr851Ile)
c.1541C>T (p.Thr514Ile)
12g.101761711G>CCA386296398GNPTABc.2768C>G (p.Thr923Ser)
c.2687C>G (p.Thr896Ser)
c.2552C>G (p.Thr851Ser)
c.1541C>G (p.Thr514Ser)
12g.101761711G>TCA386296399GNPTABc.2768C>A (p.Thr923Asn)
c.2687C>A (p.Thr896Asn)
c.2552C>A (p.Thr851Asn)
c.1541C>A (p.Thr514Asn)
12g.101761712T>ACA386296400GNPTABc.2767A>T (p.Thr923Ser)
c.2686A>T (p.Thr896Ser)
c.2551A>T (p.Thr851Ser)
c.1540A>T (p.Thr514Ser)
12g.101761712T>CCA386296402GNPTABc.2767A>G (p.Thr923Ala)
c.2686A>G (p.Thr896Ala)
c.2551A>G (p.Thr851Ala)
c.1540A>G (p.Thr514Ala)
12g.101761712T>GCA386296401GNPTABc.2767A>C (p.Thr923Pro)
c.2686A>C (p.Thr896Pro)
c.2551A>C (p.Thr851Pro)
c.1540A>C (p.Thr514Pro)
12g.101761713A>CCA386296403GNPTABc.2766T>G (p.Asn922Lys)
c.2685T>G (p.Asn895Lys)
c.2550T>G (p.Asn850Lys)
c.1539T>G (p.Asn513Lys)
12g.101761713A>GCA481576832GNPTABc.2766T>C (p.Asn922=)
c.2685T>C (p.Asn895=)
c.2550T>C (p.Asn850=)
c.1539T>C (p.Asn513=)
12g.101761713A>TCA386296404GNPTABc.2766T>A (p.Asn922Lys)
c.2685T>A (p.Asn895Lys)
c.2550T>A (p.Asn850Lys)
c.1539T>A (p.Asn513Lys)
12g.101761714T>ACA386296405GNPTABc.2765A>T (p.Asn922Ile)
c.2684A>T (p.Asn895Ile)
c.2549A>T (p.Asn850Ile)
c.1538A>T (p.Asn513Ile)
12g.101761714T>CCA386296406GNPTABc.2765A>G (p.Asn922Ser)
c.2684A>G (p.Asn895Ser)
c.2549A>G (p.Asn850Ser)
c.1538A>G (p.Asn513Ser)
12g.101761714T>GCA386296407GNPTABc.2765A>C (p.Asn922Thr)
c.2684A>C (p.Asn895Thr)
c.2549A>C (p.Asn850Thr)
c.1538A>C (p.Asn513Thr)
12g.101761715T>ACA386296410GNPTABc.2764A>T (p.Asn922Tyr)
c.2683A>T (p.Asn895Tyr)
c.2548A>T (p.Asn850Tyr)
c.1537A>T (p.Asn513Tyr)
12g.101761715T>CCA386296409GNPTABc.2764A>G (p.Asn922Asp)
c.2683A>G (p.Asn895Asp)
c.2548A>G (p.Asn850Asp)
c.1537A>G (p.Asn513Asp)
12g.101761715T>GCA386296408GNPTABc.2764A>C (p.Asn922His)
c.2683A>C (p.Asn895His)
c.2548A>C (p.Asn850His)
c.1537A>C (p.Asn513His)
12g.101761716T>ACA386296411GNPTABc.2763A>T (p.Lys921Asn)
c.2682A>T (p.Lys894Asn)
c.2547A>T (p.Lys849Asn)
c.1536A>T (p.Lys512Asn)
12g.101761716T>CCA6746346GNPTABc.2763A>G (p.Lys921=)
c.2682A>G (p.Lys894=)
c.2547A>G (p.Lys849=)
c.1536A>G (p.Lys512=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761716T>GCA386296412GNPTABc.2763A>C (p.Lys921Asn)
c.2682A>C (p.Lys894Asn)
c.2547A>C (p.Lys849Asn)
c.1536A>C (p.Lys512Asn)
12g.101761716T=CA2058953184GNPTABc.2763A= (p.Lys921=)
c.2682A= (p.Lys894=)
c.2547A= (p.Lys849=)
c.1536A= (p.Lys512=)
12g.101761717T>ACA386296413GNPTABc.2762A>T (p.Lys921Ile)
c.2681A>T (p.Lys894Ile)
c.2546A>T (p.Lys849Ile)
c.1535A>T (p.Lys512Ile)
 gnomAD v4
12g.101761717T>CCA6746347GNPTABc.2762A>G (p.Lys921Arg)
c.2681A>G (p.Lys894Arg)
c.2546A>G (p.Lys849Arg)
c.1535A>G (p.Lys512Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761717T>GCA386296414GNPTABc.2762A>C (p.Lys921Thr)
c.2681A>C (p.Lys894Thr)
c.2546A>C (p.Lys849Thr)
c.1535A>C (p.Lys512Thr)
12g.101761717T=CA2058953187GNPTABc.2762A= (p.Lys921=)
c.2681A= (p.Lys894=)
c.2546A= (p.Lys849=)
c.1535A= (p.Lys512=)
12g.101761718T>ACA386296415GNPTABc.2761A>T (p.Lys921Ter)
c.2680A>T (p.Lys894Ter)
c.2545A>T (p.Lys849Ter)
c.1534A>T (p.Lys512Ter)
 ClinVar dbSNP
12g.101761718T>CCA386296417GNPTABc.2761A>G (p.Lys921Glu)
c.2680A>G (p.Lys894Glu)
c.2545A>G (p.Lys849Glu)
c.1534A>G (p.Lys512Glu)
12g.101761718T>GCA386296416GNPTABc.2761A>C (p.Lys921Gln)
c.2680A>C (p.Lys894Gln)
c.2545A>C (p.Lys849Gln)
c.1534A>C (p.Lys512Gln)
 ClinVar
12g.101761718T=CA2058953190GNPTABc.2761A= (p.Lys921=)
c.2680A= (p.Lys894=)
c.2545A= (p.Lys849=)
c.1534A= (p.Lys512=)
12g.101761719G>ACA481576833GNPTABc.2760C>T (p.Ser920=)
c.2679C>T (p.Ser893=)
c.2544C>T (p.Ser848=)
c.1533C>T (p.Ser511=)
 gnomAD v4
12g.101761719G>CCA386296418GNPTABc.2760C>G (p.Ser920Arg)
c.2679C>G (p.Ser893Arg)
c.2544C>G (p.Ser848Arg)
c.1533C>G (p.Ser511Arg)
12g.101761719G=CA2058953195GNPTABc.2760C= (p.Ser920=)
c.2679C= (p.Ser893=)
c.2544C= (p.Ser848=)
c.1533C= (p.Ser511=)
12g.101761719G>TCA386296419GNPTABc.2760C>A (p.Ser920Arg)
c.2679C>A (p.Ser893Arg)
c.2544C>A (p.Ser848Arg)
c.1533C>A (p.Ser511Arg)
 dbSNP
12g.101761720C>ACA386296420GNPTABc.2759G>T (p.Ser920Ile)
c.2678G>T (p.Ser893Ile)
c.2543G>T (p.Ser848Ile)
c.1532G>T (p.Ser511Ile)
12g.101761720C=CA2058953200GNPTABc.2759G= (p.Ser920=)
c.2678G= (p.Ser893=)
c.2543G= (p.Ser848=)
c.1532G= (p.Ser511=)
12g.101761720C>GCA386296421GNPTABc.2759G>C (p.Ser920Thr)
c.2678G>C (p.Ser893Thr)
c.2543G>C (p.Ser848Thr)
c.1532G>C (p.Ser511Thr)
12g.101761720C>TCA6746348GNPTABc.2759G>A (p.Ser920Asn)
c.2678G>A (p.Ser893Asn)
c.2543G>A (p.Ser848Asn)
c.1532G>A (p.Ser511Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761720_101761722delinsCTACA2058953202GNPTABc.2757_2759delinsTAG (p.Asp919=)
c.2676_2678delinsTAG (p.Asp892=)
c.2541_2543delinsTAG (p.Asp847=)
c.1530_1532delinsTAG (p.Asp510=)
12g.101761721T>ACA386296422GNPTABc.2758A>T (p.Ser920Cys)
c.2677A>T (p.Ser893Cys)
c.2542A>T (p.Ser848Cys)
c.1531A>T (p.Ser511Cys)
12g.101761721T>CCA386296423GNPTABc.2758A>G (p.Ser920Gly)
c.2677A>G (p.Ser893Gly)
c.2542A>G (p.Ser848Gly)
c.1531A>G (p.Ser511Gly)
12g.101761721T>GCA242454387GNPTABc.2758A>C (p.Ser920Arg)
c.2677A>C (p.Ser893Arg)
c.2542A>C (p.Ser848Arg)
c.1531A>C (p.Ser511Arg)
 dbSNP
12g.101761721T=CA2058953205GNPTABc.2758A= (p.Ser920=)
c.2677A= (p.Ser893=)
c.2542A= (p.Ser848=)
c.1531A= (p.Ser511=)
12g.101761722_101761723delCA6746349GNPTABc.2757_2758del (p.Asp919GlufsTer21)
c.2676_2677del (p.Asp892GlufsTer21)
c.2541_2542del (p.Asp847GlufsTer21)
c.1530_1531del (p.Asp510GlufsTer21)
 ClinVar dbSNP ExAC gnomAD v4
12g.101761722A>CCA386296424GNPTABc.2757T>G (p.Asp919Glu)
c.2676T>G (p.Asp892Glu)
c.2541T>G (p.Asp847Glu)
c.1530T>G (p.Asp510Glu)
12g.101761722A>GCA481576834GNPTABc.2757T>C (p.Asp919=)
c.2676T>C (p.Asp892=)
c.2541T>C (p.Asp847=)
c.1530T>C (p.Asp510=)
12g.101761722A>TCA386296425GNPTABc.2757T>A (p.Asp919Glu)
c.2676T>A (p.Asp892Glu)
c.2541T>A (p.Asp847Glu)
c.1530T>A (p.Asp510Glu)
12g.101761723T>ACA386296427GNPTABc.2756A>T (p.Asp919Val)
c.2675A>T (p.Asp892Val)
c.2540A>T (p.Asp847Val)
c.1529A>T (p.Asp510Val)
12g.101761723T>CCA386296428GNPTABc.2756A>G (p.Asp919Gly)
c.2675A>G (p.Asp892Gly)
c.2540A>G (p.Asp847Gly)
c.1529A>G (p.Asp510Gly)
12g.101761723T>GCA386296426GNPTABc.2756A>C (p.Asp919Ala)
c.2675A>C (p.Asp892Ala)
c.2540A>C (p.Asp847Ala)
c.1529A>C (p.Asp510Ala)
12g.101761724C>ACA386296430GNPTABc.2755G>T (p.Asp919Tyr)
c.2674G>T (p.Asp892Tyr)
c.2539G>T (p.Asp847Tyr)
c.1528G>T (p.Asp510Tyr)
12g.101761724C>GCA386296429GNPTABc.2755G>C (p.Asp919His)
c.2674G>C (p.Asp892His)
c.2539G>C (p.Asp847His)
c.1528G>C (p.Asp510His)
12g.101761724C>TCA386296431GNPTABc.2755G>A (p.Asp919Asn)
c.2674G>A (p.Asp892Asn)
c.2539G>A (p.Asp847Asn)
c.1528G>A (p.Asp510Asn)
12g.101761725A>CCA481576835GNPTABc.2754T>G (p.Thr918=)
c.2673T>G (p.Thr891=)
c.2538T>G (p.Thr846=)
c.1527T>G (p.Thr509=)
12g.101761725A>GCA481576836GNPTABc.2754T>C (p.Thr918=)
c.2673T>C (p.Thr891=)
c.2538T>C (p.Thr846=)
c.1527T>C (p.Thr509=)
12g.101761725A>TCA481576837GNPTABc.2754T>A (p.Thr918=)
c.2673T>A (p.Thr891=)
c.2538T>A (p.Thr846=)
c.1527T>A (p.Thr509=)
12g.101761726G>ACA386296432GNPTABc.2753C>T (p.Thr918Ile)
c.2672C>T (p.Thr891Ile)
c.2537C>T (p.Thr846Ile)
c.1526C>T (p.Thr509Ile)
12g.101761726G>CCA386296433GNPTABc.2753C>G (p.Thr918Ser)
c.2672C>G (p.Thr891Ser)
c.2537C>G (p.Thr846Ser)
c.1526C>G (p.Thr509Ser)
12g.101761726G>TCA386296434GNPTABc.2753C>A (p.Thr918Asn)
c.2672C>A (p.Thr891Asn)
c.2537C>A (p.Thr846Asn)
c.1526C>A (p.Thr509Asn)
12g.101761727T>ACA386296435GNPTABc.2752A>T (p.Thr918Ser)
c.2671A>T (p.Thr891Ser)
c.2536A>T (p.Thr846Ser)
c.1525A>T (p.Thr509Ser)
 gnomAD v4
12g.101761727T>CCA386296436GNPTABc.2752A>G (p.Thr918Ala)
c.2671A>G (p.Thr891Ala)
c.2536A>G (p.Thr846Ala)
c.1525A>G (p.Thr509Ala)
12g.101761727T>GCA386296437GNPTABc.2752A>C (p.Thr918Pro)
c.2671A>C (p.Thr891Pro)
c.2536A>C (p.Thr846Pro)
c.1525A>C (p.Thr509Pro)
12g.101761729_101761735delCA912973312GNPTABc.2746_2752del (p.Tyr916LeufsTer10)
c.2665_2671del (p.Tyr889LeufsTer10)
c.2530_2536del (p.Tyr844LeufsTer10)
c.1519_1525del (p.Tyr507LeufsTer10)
12g.101761728G>ACA481576838GNPTABc.2751C>T (p.Phe917=)
c.2670C>T (p.Phe890=)
c.2535C>T (p.Phe845=)
c.1524C>T (p.Phe508=)
 gnomAD v4
12g.101761728G>CCA386296438GNPTABc.2751C>G (p.Phe917Leu)
c.2670C>G (p.Phe890Leu)
c.2535C>G (p.Phe845Leu)
c.1524C>G (p.Phe508Leu)
12g.101761728G>TCA386296439GNPTABc.2751C>A (p.Phe917Leu)
c.2670C>A (p.Phe890Leu)
c.2535C>A (p.Phe845Leu)
c.1524C>A (p.Phe508Leu)
12g.101761728_101761734delinsGAAGTATCA2058953212GNPTABc.2745_2751delinsATACTTC (p.Ala915=)
c.2664_2670delinsATACTTC (p.Ala888=)
c.2529_2535delinsATACTTC (p.Ala843=)
c.1518_1524delinsATACTTC (p.Ala506=)
12g.101761729A>CCA386296440GNPTABc.2750T>G (p.Phe917Cys)
c.2669T>G (p.Phe890Cys)
c.2534T>G (p.Phe845Cys)
c.1523T>G (p.Phe508Cys)
12g.101761729A>GCA386296441GNPTABc.2750T>C (p.Phe917Ser)
c.2669T>C (p.Phe890Ser)
c.2534T>C (p.Phe845Ser)
c.1523T>C (p.Phe508Ser)
12g.101761729A>TCA386296442GNPTABc.2750T>A (p.Phe917Tyr)
c.2669T>A (p.Phe890Tyr)
c.2534T>A (p.Phe845Tyr)
c.1523T>A (p.Phe508Tyr)
12g.101761729_101761734delCA607597811GNPTABc.2745_2750del (p.Tyr916_Phe917del)
c.2664_2669del (p.Tyr889_Phe890del)
c.2529_2534del (p.Tyr844_Phe845del)
c.1518_1523del (p.Tyr507_Phe508del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101761730A>CCA386296445GNPTABc.2749T>G (p.Phe917Val)
c.2668T>G (p.Phe890Val)
c.2533T>G (p.Phe845Val)
c.1522T>G (p.Phe508Val)
12g.101761730A>GCA386296444GNPTABc.2749T>C (p.Phe917Leu)
c.2668T>C (p.Phe890Leu)
c.2533T>C (p.Phe845Leu)
c.1522T>C (p.Phe508Leu)
12g.101761730A>TCA386296443GNPTABc.2749T>A (p.Phe917Ile)
c.2668T>A (p.Phe890Ile)
c.2533T>A (p.Phe845Ile)
c.1522T>A (p.Phe508Ile)
12g.101761731G>ACA6746350GNPTABc.2748C>T (p.Tyr916=)
c.2667C>T (p.Tyr889=)
c.2532C>T (p.Tyr844=)
c.1521C>T (p.Tyr507=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761731G>CCA386296446GNPTABc.2748C>G (p.Tyr916Ter)
c.2667C>G (p.Tyr889Ter)
c.2532C>G (p.Tyr844Ter)
c.1521C>G (p.Tyr507Ter)
 ClinVar
12g.101761731G=CA2058953221GNPTABc.2748C= (p.Tyr916=)
c.2667C= (p.Tyr889=)
c.2532C= (p.Tyr844=)
c.1521C= (p.Tyr507=)
12g.101761731G>TCA386296447GNPTABc.2748C>A (p.Tyr916Ter)
c.2667C>A (p.Tyr889Ter)
c.2532C>A (p.Tyr844Ter)
c.1521C>A (p.Tyr507Ter)
 gnomAD v4
12g.101761732T>ACA386296448GNPTABc.2747A>T (p.Tyr916Phe)
c.2666A>T (p.Tyr889Phe)
c.2531A>T (p.Tyr844Phe)
c.1520A>T (p.Tyr507Phe)
12g.101761732T>CCA386296449GNPTABc.2747A>G (p.Tyr916Cys)
c.2666A>G (p.Tyr889Cys)
c.2531A>G (p.Tyr844Cys)
c.1520A>G (p.Tyr507Cys)
 COSMIC
12g.101761732T>GCA386296450GNPTABc.2747A>C (p.Tyr916Ser)
c.2666A>C (p.Tyr889Ser)
c.2531A>C (p.Tyr844Ser)
c.1520A>C (p.Tyr507Ser)
12g.101761733A>CCA386296451GNPTABc.2746T>G (p.Tyr916Asp)
c.2665T>G (p.Tyr889Asp)
c.2530T>G (p.Tyr844Asp)
c.1519T>G (p.Tyr507Asp)
12g.101761733A>GCA386296452GNPTABc.2746T>C (p.Tyr916His)
c.2665T>C (p.Tyr889His)
c.2530T>C (p.Tyr844His)
c.1519T>C (p.Tyr507His)
12g.101761733A>TCA386296453GNPTABc.2746T>A (p.Tyr916Asn)
c.2665T>A (p.Tyr889Asn)
c.2530T>A (p.Tyr844Asn)
c.1519T>A (p.Tyr507Asn)
12g.101761734T>ACA481576839GNPTABc.2745A>T (p.Ala915=)
c.2664A>T (p.Ala888=)
c.2529A>T (p.Ala843=)
c.1518A>T (p.Ala506=)
12g.101761734T>CCA481576840GNPTABc.2745A>G (p.Ala915=)
c.2664A>G (p.Ala888=)
c.2529A>G (p.Ala843=)
c.1518A>G (p.Ala506=)
 gnomAD v4
12g.101761734T>GCA481576841GNPTABc.2745A>C (p.Ala915=)
c.2664A>C (p.Ala888=)
c.2529A>C (p.Ala843=)
c.1518A>C (p.Ala506=)
12g.101761735G>ACA386296454GNPTABc.2744C>T (p.Ala915Val)
c.2663C>T (p.Ala888Val)
c.2528C>T (p.Ala843Val)
c.1517C>T (p.Ala506Val)
12g.101761735G>CCA386296455GNPTABc.2744C>G (p.Ala915Gly)
c.2663C>G (p.Ala888Gly)
c.2528C>G (p.Ala843Gly)
c.1517C>G (p.Ala506Gly)
12g.101761735G>TCA386296456GNPTABc.2744C>A (p.Ala915Glu)
c.2663C>A (p.Ala888Glu)
c.2528C>A (p.Ala843Glu)
c.1517C>A (p.Ala506Glu)
12g.101761736C>ACA386296459GNPTABc.2743G>T (p.Ala915Ser)
c.2662G>T (p.Ala888Ser)
c.2527G>T (p.Ala843Ser)
c.1516G>T (p.Ala506Ser)
12g.101761736C>GCA386296458GNPTABc.2743G>C (p.Ala915Pro)
c.2662G>C (p.Ala888Pro)
c.2527G>C (p.Ala843Pro)
c.1516G>C (p.Ala506Pro)
12g.101761736C>TCA386296457GNPTABc.2743G>A (p.Ala915Thr)
c.2662G>A (p.Ala888Thr)
c.2527G>A (p.Ala843Thr)
c.1516G>A (p.Ala506Thr)
12g.101761737C>ACA386296460GNPTABc.2742G>T (p.Leu914Phe)
c.2661G>T (p.Leu887Phe)
c.2526G>T (p.Leu842Phe)
c.1515G>T (p.Leu505Phe)
12g.101761737C>GCA386296461GNPTABc.2742G>C (p.Leu914Phe)
c.2661G>C (p.Leu887Phe)
c.2526G>C (p.Leu842Phe)
c.1515G>C (p.Leu505Phe)
12g.101761737C>TCA481576843GNPTABc.2742G>A (p.Leu914=)
c.2661G>A (p.Leu887=)
c.2526G>A (p.Leu842=)
c.1515G>A (p.Leu505=)
 ClinVar gnomAD v4
12g.101761738A=CA2058953224GNPTABc.2741T= (p.Leu914=)
c.2660T= (p.Leu887=)
c.2525T= (p.Leu842=)
c.1514T= (p.Leu505=)
12g.101761738A>CCA386296462GNPTABc.2741T>G (p.Leu914Trp)
c.2660T>G (p.Leu887Trp)
c.2525T>G (p.Leu842Trp)
c.1514T>G (p.Leu505Trp)
12g.101761738A>GCA386296463GNPTABc.2741T>C (p.Leu914Ser)
c.2660T>C (p.Leu887Ser)
c.2525T>C (p.Leu842Ser)
c.1514T>C (p.Leu505Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.101761738A>TCA386296464GNPTABc.2741T>A (p.Leu914Ter)
c.2660T>A (p.Leu887Ter)
c.2525T>A (p.Leu842Ter)
c.1514T>A (p.Leu505Ter)
12g.101761738_101761741dupCA2620428761GNPTABc.2738_2741dup (p.Ala915IlefsTer6)
c.2657_2660dup (p.Ala888IlefsTer6)
c.2522_2525dup (p.Ala843IlefsTer6)
c.1511_1514dup (p.Ala506IlefsTer6)
 gnomAD v4
12g.101761739A>CCA386296465GNPTABc.2740T>G (p.Leu914Val)
c.2659T>G (p.Leu887Val)
c.2524T>G (p.Leu842Val)
c.1513T>G (p.Leu505Val)
12g.101761739A>GCA481576844GNPTABc.2740T>C (p.Leu914=)
c.2659T>C (p.Leu887=)
c.2524T>C (p.Leu842=)
c.1513T>C (p.Leu505=)
 ClinVar dbSNP gnomAD v4
12g.101761739A>TCA386296466GNPTABc.2740T>A (p.Leu914Met)
c.2659T>A (p.Leu887Met)
c.2524T>A (p.Leu842Met)
c.1513T>A (p.Leu505Met)
12g.101761740T>ACA386296467GNPTABc.2739A>T (p.Gln913His)
c.2658A>T (p.Gln886His)
c.2523A>T (p.Gln841His)
c.1512A>T (p.Gln504His)
12g.101761740T>CCA481576845GNPTABc.2739A>G (p.Gln913=)
c.2658A>G (p.Gln886=)
c.2523A>G (p.Gln841=)
c.1512A>G (p.Gln504=)
12g.101761740T>GCA386296468GNPTABc.2739A>C (p.Gln913His)
c.2658A>C (p.Gln886His)
c.2523A>C (p.Gln841His)
c.1512A>C (p.Gln504His)
12g.101761741T>ACA386296469GNPTABc.2738A>T (p.Gln913Leu)
c.2657A>T (p.Gln886Leu)
c.2522A>T (p.Gln841Leu)
c.1511A>T (p.Gln504Leu)
12g.101761741T>CCA386296470GNPTABc.2738A>G (p.Gln913Arg)
c.2657A>G (p.Gln886Arg)
c.2522A>G (p.Gln841Arg)
c.1511A>G (p.Gln504Arg)
12g.101761741T>GCA386296471GNPTABc.2738A>C (p.Gln913Pro)
c.2657A>C (p.Gln886Pro)
c.2522A>C (p.Gln841Pro)
c.1511A>C (p.Gln504Pro)
12g.101761744_101761745delCA2580616842GNPTABc.2737_2738del (p.Gln913IlefsTer6)
c.2656_2657del (p.Gln886IlefsTer6)
c.2521_2522del (p.Gln841IlefsTer6)
c.1510_1511del (p.Gln504IlefsTer6)
 ClinVar dbSNP gnomAD v4
12g.101761742G>ACA386296474GNPTABc.2737C>T (p.Gln913Ter)
c.2656C>T (p.Gln886Ter)
c.2521C>T (p.Gln841Ter)
c.1510C>T (p.Gln504Ter)
 ClinVar
12g.101761742G>CCA386296472GNPTABc.2737C>G (p.Gln913Glu)
c.2656C>G (p.Gln886Glu)
c.2521C>G (p.Gln841Glu)
c.1510C>G (p.Gln504Glu)
 gnomAD v4
12g.101761742G>TCA386296473GNPTABc.2737C>A (p.Gln913Lys)
c.2656C>A (p.Gln886Lys)
c.2521C>A (p.Gln841Lys)
c.1510C>A (p.Gln504Lys)
12g.101761743T>ACA481576846GNPTABc.2736A>T (p.Thr912=)
c.2655A>T (p.Thr885=)
c.2520A>T (p.Thr840=)
c.1509A>T (p.Thr503=)
12g.101761743T>CCA481576847GNPTABc.2736A>G (p.Thr912=)
c.2655A>G (p.Thr885=)
c.2520A>G (p.Thr840=)
c.1509A>G (p.Thr503=)
12g.101761743T>GCA481576848GNPTABc.2736A>C (p.Thr912=)
c.2655A>C (p.Thr885=)
c.2520A>C (p.Thr840=)
c.1509A>C (p.Thr503=)
 gnomAD v4
12g.101761744G>ACA386296475GNPTABc.2735C>T (p.Thr912Ile)
c.2654C>T (p.Thr885Ile)
c.2519C>T (p.Thr840Ile)
c.1508C>T (p.Thr503Ile)
12g.101761744G>CCA386296476GNPTABc.2735C>G (p.Thr912Arg)
c.2654C>G (p.Thr885Arg)
c.2519C>G (p.Thr840Arg)
c.1508C>G (p.Thr503Arg)
12g.101761744G>TCA386296477GNPTABc.2735C>A (p.Thr912Lys)
c.2654C>A (p.Thr885Lys)
c.2519C>A (p.Thr840Lys)
c.1508C>A (p.Thr503Lys)
 gnomAD v4
12g.101761745T>ACA386296478GNPTABc.2734A>T (p.Thr912Ser)
c.2653A>T (p.Thr885Ser)
c.2518A>T (p.Thr840Ser)
c.1507A>T (p.Thr503Ser)
12g.101761745T>CCA6746351GNPTABc.2734A>G (p.Thr912Ala)
c.2653A>G (p.Thr885Ala)
c.2518A>G (p.Thr840Ala)
c.1507A>G (p.Thr503Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761745T>GCA386296479GNPTABc.2734A>C (p.Thr912Pro)
c.2653A>C (p.Thr885Pro)
c.2518A>C (p.Thr840Pro)
c.1507A>C (p.Thr503Pro)
12g.101761745T=CA2058953229GNPTABc.2734A= (p.Thr912=)
c.2653A= (p.Thr885=)
c.2518A= (p.Thr840=)
c.1507A= (p.Thr503=)
12g.101761746_101761752delCA912973313GNPTABc.2728_2734del (p.Leu910HisfsTer16)
c.2647_2653del (p.Leu883HisfsTer16)
c.2512_2518del (p.Leu838HisfsTer16)
c.1501_1507del (p.Leu501HisfsTer16)
12g.101761746C>ACA386296480GNPTABc.2733G>T (p.Lys911Asn)
c.2652G>T (p.Lys884Asn)
c.2517G>T (p.Lys839Asn)
c.1506G>T (p.Lys502Asn)
12g.101761746C>GCA386296481GNPTABc.2733G>C (p.Lys911Asn)
c.2652G>C (p.Lys884Asn)
c.2517G>C (p.Lys839Asn)
c.1506G>C (p.Lys502Asn)
12g.101761746C>TCA481576849GNPTABc.2733G>A (p.Lys911=)
c.2652G>A (p.Lys884=)
c.2517G>A (p.Lys839=)
c.1506G>A (p.Lys502=)
12g.101761746_101761752delinsCTTCAATCA2058953233GNPTABc.2727_2733delinsATTGAAG (p.Ser909=)
c.2646_2652delinsATTGAAG (p.Ser882=)
c.2511_2517delinsATTGAAG (p.Ser837=)
c.1500_1506delinsATTGAAG (p.Ser500=)
12g.101761747T>ACA386296482GNPTABc.2732A>T (p.Lys911Met)
c.2651A>T (p.Lys884Met)
c.2516A>T (p.Lys839Met)
c.1505A>T (p.Lys502Met)
12g.101761747T>CCA386296483GNPTABc.2732A>G (p.Lys911Arg)
c.2651A>G (p.Lys884Arg)
c.2516A>G (p.Lys839Arg)
c.1505A>G (p.Lys502Arg)
 gnomAD v4
12g.101761747T>GCA386296484GNPTABc.2732A>C (p.Lys911Thr)
c.2651A>C (p.Lys884Thr)
c.2516A>C (p.Lys839Thr)
c.1505A>C (p.Lys502Thr)
12g.101761747_101761752delCA6746352GNPTABc.2727_2732del (p.Leu910_Lys911del)
c.2646_2651del (p.Leu883_Lys884del)
c.2511_2516del (p.Leu838_Lys839del)
c.1500_1505del (p.Leu501_Lys502del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761748T>ACA386296486GNPTABc.2731A>T (p.Lys911Ter)
c.2650A>T (p.Lys884Ter)
c.2515A>T (p.Lys839Ter)
c.1504A>T (p.Lys502Ter)
 ClinVar dbSNP
12g.101761748T>CCA386296487GNPTABc.2731A>G (p.Lys911Glu)
c.2650A>G (p.Lys884Glu)
c.2515A>G (p.Lys839Glu)
c.1504A>G (p.Lys502Glu)
12g.101761748T>GCA386296485GNPTABc.2731A>C (p.Lys911Gln)
c.2650A>C (p.Lys884Gln)
c.2515A>C (p.Lys839Gln)
c.1504A>C (p.Lys502Gln)
12g.101761748T=CA2058953238GNPTABc.2731A= (p.Lys911=)
c.2650A= (p.Lys884=)
c.2515A= (p.Lys839=)
c.1504A= (p.Lys502=)
12g.101761749C>ACA386296489GNPTABc.2730G>T (p.Leu910Phe)
c.2649G>T (p.Leu883Phe)
c.2514G>T (p.Leu838Phe)
c.1503G>T (p.Leu501Phe)
 gnomAD v4
12g.101761749C>GCA386296488GNPTABc.2730G>C (p.Leu910Phe)
c.2649G>C (p.Leu883Phe)
c.2514G>C (p.Leu838Phe)
c.1503G>C (p.Leu501Phe)
12g.101761749C>TCA481576850GNPTABc.2730G>A (p.Leu910=)
c.2649G>A (p.Leu883=)
c.2514G>A (p.Leu838=)
c.1503G>A (p.Leu501=)
12g.101761750A>CCA386296490GNPTABc.2729T>G (p.Leu910Trp)
c.2648T>G (p.Leu883Trp)
c.2513T>G (p.Leu838Trp)
c.1502T>G (p.Leu501Trp)
12g.101761750A>GCA386296491GNPTABc.2729T>C (p.Leu910Ser)
c.2648T>C (p.Leu883Ser)
c.2513T>C (p.Leu838Ser)
c.1502T>C (p.Leu501Ser)
12g.101761750A>TCA386296492GNPTABc.2729T>A (p.Leu910Ter)
c.2648T>A (p.Leu883Ter)
c.2513T>A (p.Leu838Ter)
c.1502T>A (p.Leu501Ter)
12g.101761751A=CA2058953242GNPTABc.2728T= (p.Leu910=)
c.2647T= (p.Leu883=)
c.2512T= (p.Leu838=)
c.1501T= (p.Leu501=)
12g.101761751A>CCA386296493GNPTABc.2728T>G (p.Leu910Val)
c.2647T>G (p.Leu883Val)
c.2512T>G (p.Leu838Val)
c.1501T>G (p.Leu501Val)
12g.101761751A>GCA481576851GNPTABc.2728T>C (p.Leu910=)
c.2647T>C (p.Leu883=)
c.2512T>C (p.Leu838=)
c.1501T>C (p.Leu501=)
 ClinVar dbSNP gnomAD v4
12g.101761751A>TCA386296494GNPTABc.2728T>A (p.Leu910Met)
c.2647T>A (p.Leu883Met)
c.2512T>A (p.Leu838Met)
c.1501T>A (p.Leu501Met)
12g.101761752T>ACA481576852GNPTABc.2727A>T (p.Ser909=)
c.2646A>T (p.Ser882=)
c.2511A>T (p.Ser837=)
c.1500A>T (p.Ser500=)
12g.101761752T>CCA6746353GNPTABc.2727A>G (p.Ser909=)
c.2646A>G (p.Ser882=)
c.2511A>G (p.Ser837=)
c.1500A>G (p.Ser500=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761752T>GCA481576853GNPTABc.2727A>C (p.Ser909=)
c.2646A>C (p.Ser882=)
c.2511A>C (p.Ser837=)
c.1500A>C (p.Ser500=)
12g.101761752T=CA2058953246GNPTABc.2727A= (p.Ser909=)
c.2646A= (p.Ser882=)
c.2511A= (p.Ser837=)
c.1500A= (p.Ser500=)
12g.101761753G>ACA386296495GNPTABc.2726C>T (p.Ser909Leu)
c.2645C>T (p.Ser882Leu)
c.2510C>T (p.Ser837Leu)
c.1499C>T (p.Ser500Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.101761753G>CCA386296496GNPTABc.2726C>G (p.Ser909Ter)
c.2645C>G (p.Ser882Ter)
c.2510C>G (p.Ser837Ter)
c.1499C>G (p.Ser500Ter)
 dbSNP gnomAD v2 gnomAD v4
12g.101761753G=CA2058953252GNPTABc.2726C= (p.Ser909=)
c.2645C= (p.Ser882=)
c.2510C= (p.Ser837=)
c.1499C= (p.Ser500=)
12g.101761753G>TCA386296497GNPTABc.2726C>A (p.Ser909Ter)
c.2645C>A (p.Ser882Ter)
c.2510C>A (p.Ser837Ter)
c.1499C>A (p.Ser500Ter)
12g.101761754A=CA2058953257GNPTABc.2725T= (p.Ser909=)
c.2644T= (p.Ser882=)
c.2509T= (p.Ser837=)
c.1498T= (p.Ser500=)
12g.101761754A>CCA386296498GNPTABc.2725T>G (p.Ser909Ala)
c.2644T>G (p.Ser882Ala)
c.2509T>G (p.Ser837Ala)
c.1498T>G (p.Ser500Ala)
 ClinVar dbSNP gnomAD v4
12g.101761754A>GCA386296499GNPTABc.2725T>C (p.Ser909Pro)
c.2644T>C (p.Ser882Pro)
c.2509T>C (p.Ser837Pro)
c.1498T>C (p.Ser500Pro)
12g.101761754A>TCA386296500GNPTABc.2725T>A (p.Ser909Thr)
c.2644T>A (p.Ser882Thr)
c.2509T>A (p.Ser837Thr)
c.1498T>A (p.Ser500Thr)
12g.101761755C>ACA386296502GNPTABc.2724G>T (p.Glu908Asp)
c.2643G>T (p.Glu881Asp)
c.2508G>T (p.Glu836Asp)
c.1497G>T (p.Glu499Asp)
12g.101761755C>GCA386296501GNPTABc.2724G>C (p.Glu908Asp)
c.2643G>C (p.Glu881Asp)
c.2508G>C (p.Glu836Asp)
c.1497G>C (p.Glu499Asp)
12g.101761755C>TCA481576854GNPTABc.2724G>A (p.Glu908=)
c.2643G>A (p.Glu881=)
c.2508G>A (p.Glu836=)
c.1497G>A (p.Glu499=)
 gnomAD v4
12g.101761756delCA2575264952GNPTABc.2723del (p.Glu908GlyfsTer3)
c.2642del (p.Glu881GlyfsTer3)
c.2507del (p.Glu836GlyfsTer3)
c.1496del (p.Glu499GlyfsTer3)
12g.101761756T>ACA386296503GNPTABc.2723A>T (p.Glu908Val)
c.2642A>T (p.Glu881Val)
c.2507A>T (p.Glu836Val)
c.1496A>T (p.Glu499Val)
12g.101761756T>CCA386296504GNPTABc.2723A>G (p.Glu908Gly)
c.2642A>G (p.Glu881Gly)
c.2507A>G (p.Glu836Gly)
c.1496A>G (p.Glu499Gly)
12g.101761756T>GCA386296505GNPTABc.2723A>C (p.Glu908Ala)
c.2642A>C (p.Glu881Ala)
c.2507A>C (p.Glu836Ala)
c.1496A>C (p.Glu499Ala)
12g.101761757C>ACA386296506GNPTABc.2722G>T (p.Glu908Ter)
c.2641G>T (p.Glu881Ter)
c.2506G>T (p.Glu836Ter)
c.1495G>T (p.Glu499Ter)
12g.101761757C=CA2058953261GNPTABc.2722G= (p.Glu908=)
c.2641G= (p.Glu881=)
c.2506G= (p.Glu836=)
c.1495G= (p.Glu499=)
12g.101761757C>GCA386296507GNPTABc.2722G>C (p.Glu908Gln)
c.2641G>C (p.Glu881Gln)
c.2506G>C (p.Glu836Gln)
c.1495G>C (p.Glu499Gln)
12g.101761757C>TCA386296508GNPTABc.2722G>A (p.Glu908Lys)
c.2641G>A (p.Glu881Lys)
c.2506G>A (p.Glu836Lys)
c.1495G>A (p.Glu499Lys)
 dbSNP gnomAD v2 gnomAD v4
12g.101761758T>ACA386296509GNPTABc.2721A>T (p.Glu907Asp)
c.2640A>T (p.Glu880Asp)
c.2505A>T (p.Glu835Asp)
c.1494A>T (p.Glu498Asp)
12g.101761758T>CCA481576855GNPTABc.2721A>G (p.Glu907=)
c.2640A>G (p.Glu880=)
c.2505A>G (p.Glu835=)
c.1494A>G (p.Glu498=)
12g.101761758T>GCA386296510GNPTABc.2721A>C (p.Glu907Asp)
c.2640A>C (p.Glu880Asp)
c.2505A>C (p.Glu835Asp)
c.1494A>C (p.Glu498Asp)
12g.101761758_101761759delCA2575264953GNPTABc.2720_2721del (p.Glu907GlyfsTer12)
c.2639_2640del (p.Glu880GlyfsTer12)
c.2504_2505del (p.Glu835GlyfsTer12)
c.1493_1494del (p.Glu498GlyfsTer12)
12g.101761759T>ACA386296511GNPTABc.2720A>T (p.Glu907Val)
c.2639A>T (p.Glu880Val)
c.2504A>T (p.Glu835Val)
c.1493A>T (p.Glu498Val)
12g.101761759T>CCA386296512GNPTABc.2720A>G (p.Glu907Gly)
c.2639A>G (p.Glu880Gly)
c.2504A>G (p.Glu835Gly)
c.1493A>G (p.Glu498Gly)
12g.101761759T>GCA386296513GNPTABc.2720A>C (p.Glu907Ala)
c.2639A>C (p.Glu880Ala)
c.2504A>C (p.Glu835Ala)
c.1493A>C (p.Glu498Ala)
12g.101761760C>ACA386296514GNPTABc.2719G>T (p.Glu907Ter)
c.2638G>T (p.Glu880Ter)
c.2503G>T (p.Glu835Ter)
c.1492G>T (p.Glu498Ter)
12g.101761760C>GCA386296515GNPTABc.2719G>C (p.Glu907Gln)
c.2638G>C (p.Glu880Gln)
c.2503G>C (p.Glu835Gln)
c.1492G>C (p.Glu498Gln)
12g.101761760C>TCA386296516GNPTABc.2719G>A (p.Glu907Lys)
c.2638G>A (p.Glu880Lys)
c.2503G>A (p.Glu835Lys)
c.1492G>A (p.Glu498Lys)
12g.101761761T>ACA386296517GNPTABc.2718A>T (p.Glu906Asp)
c.2637A>T (p.Glu879Asp)
c.2502A>T (p.Glu834Asp)
c.1491A>T (p.Glu497Asp)
12g.101761761T>CCA481576856GNPTABc.2718A>G (p.Glu906=)
c.2637A>G (p.Glu879=)
c.2502A>G (p.Glu834=)
c.1491A>G (p.Glu497=)
 dbSNP gnomAD v3 gnomAD v4
12g.101761761T>GCA386296518GNPTABc.2718A>C (p.Glu906Asp)
c.2637A>C (p.Glu879Asp)
c.2502A>C (p.Glu834Asp)
c.1491A>C (p.Glu497Asp)
12g.101761761T=CA2058953263GNPTABc.2718A= (p.Glu906=)
c.2637A= (p.Glu879=)
c.2502A= (p.Glu834=)
c.1491A= (p.Glu497=)
12g.101761762T>ACA386296519GNPTABc.2717A>T (p.Glu906Val)
c.2636A>T (p.Glu879Val)
c.2501A>T (p.Glu834Val)
c.1490A>T (p.Glu497Val)
12g.101761762T>CCA386296521GNPTABc.2717A>G (p.Glu906Gly)
c.2636A>G (p.Glu879Gly)
c.2501A>G (p.Glu834Gly)
c.1490A>G (p.Glu497Gly)
12g.101761762T>GCA386296520GNPTABc.2717A>C (p.Glu906Ala)
c.2636A>C (p.Glu879Ala)
c.2501A>C (p.Glu834Ala)
c.1490A>C (p.Glu497Ala)
 dbSNP gnomAD v2 gnomAD v4
12g.101761762T=CA2058953265GNPTABc.2717A= (p.Glu906=)
c.2636A= (p.Glu879=)
c.2501A= (p.Glu834=)
c.1490A= (p.Glu497=)
12g.101761763C>ACA386296522GNPTABc.2716G>T (p.Glu906Ter)
c.2635G>T (p.Glu879Ter)
c.2500G>T (p.Glu834Ter)
c.1489G>T (p.Glu497Ter)
12g.101761763C=CA2058953269GNPTABc.2716G= (p.Glu906=)
c.2635G= (p.Glu879=)
c.2500G= (p.Glu834=)
c.1489G= (p.Glu497=)
12g.101761763C>GCA386296523GNPTABc.2716G>C (p.Glu906Gln)
c.2635G>C (p.Glu879Gln)
c.2500G>C (p.Glu834Gln)
c.1489G>C (p.Glu497Gln)
12g.101761763C>TCA386296524GNPTABc.2716G>A (p.Glu906Lys)
c.2635G>A (p.Glu879Lys)
c.2500G>A (p.Glu834Lys)
c.1489G>A (p.Glu497Lys)
12g.101761763_101761764insGTCA6746354GNPTABc.2716-1_2716insAC (n.2716-1_2716insAC)
c.2635-1_2635insAC (n.2635-1_2635insAC)
c.2500-1_2500insAC (n.2500-1_2500insAC)
c.1489-1_1489insAC (n.1489-1_1489insAC)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761763_101761764insGTCGAGAAGATCA6746355GNPTABc.2716-1_2716insATCTTCTCGAC (n.2716-1_2716insATCTTCTCGAC)
c.2635-1_2635insATCTTCTCGAC (n.2635-1_2635insATCTTCTCGAC)
c.2500-1_2500insATCTTCTCGAC (n.2500-1_2500insATCTTCTCGAC)
c.1489-1_1489insATCTTCTCGAC (n.1489-1_1489insATCTTCTCGAC)
 dbSNP ExAC gnomAD v4
12g.101761764C>ACA386296525GNPTABc.2716-1G>T (n.2716-1G>T)
c.2635-1G>T (n.2635-1G>T)
c.2500-1G>T (n.2500-1G>T)
c.1489-1G>T (n.1489-1G>T)
12g.101761764C=CA2058953274GNPTABc.2716-1G= (n.2716-1G=)
c.2635-1G= (n.2635-1G=)
c.2500-1G= (n.2500-1G=)
c.1489-1G= (n.1489-1G=)
12g.101761764C>GCA242454413GNPTABc.2716-1G>C (n.2716-1G>C)
c.2635-1G>C (n.2635-1G>C)
c.2500-1G>C (n.2500-1G>C)
c.1489-1G>C (n.1489-1G>C)
 dbSNP
12g.101761764C>TCA386296526GNPTABc.2716-1G>A (n.2716-1G>A)
c.2635-1G>A (n.2635-1G>A)
c.2500-1G>A (n.2500-1G>A)
c.1489-1G>A (n.1489-1G>A)
12g.101761764_101761765insGAGAAGATCTCA6746356GNPTABc.2716-2_2716-1insAGATCTTCTC (n.2716-2_2716-1insAGATCTTCTC)
c.2635-2_2635-1insAGATCTTCTC (n.2635-2_2635-1insAGATCTTCTC)
c.2500-2_2500-1insAGATCTTCTC (n.2500-2_2500-1insAGATCTTCTC)
c.1489-2_1489-1insAGATCTTCTC (n.1489-2_1489-1insAGATCTTCTC)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761765T>ACA386296527GNPTABc.2716-2A>T (n.2716-2A>T)
c.2635-2A>T (n.2635-2A>T)
c.2500-2A>T (n.2500-2A>T)
c.1489-2A>T (n.1489-2A>T)
12g.101761765T>CCA386296528GNPTABc.2716-2A>G (n.2716-2A>G)
c.2635-2A>G (n.2635-2A>G)
c.2500-2A>G (n.2500-2A>G)
c.1489-2A>G (n.1489-2A>G)
 gnomAD v4
12g.101761765T>GCA386296529GNPTABc.2716-2A>C (n.2716-2A>C)
c.2635-2A>C (n.2635-2A>C)
c.2500-2A>C (n.2500-2A>C)
c.1489-2A>C (n.1489-2A>C)
12g.101761765T=CA2058953278GNPTABc.2716-2A= (n.2716-2A=)
c.2635-2A= (n.2635-2A=)
c.2500-2A= (n.2500-2A=)
c.1489-2A= (n.1489-2A=)
12g.101761765_101761766insCCA242454418GNPTABc.2716-3_2716-2insG (n.2716-3_2716-2insG)
c.2635-3_2635-2insG (n.2635-3_2635-2insG)
c.2500-3_2500-2insG (n.2500-3_2500-2insG)
c.1489-3_1489-2insG (n.1489-3_1489-2insG)
 dbSNP
12g.101761765_101761766insTGCA6746357GNPTABc.2716-3_2716-2insCA (n.2716-3_2716-2insCA)
c.2635-3_2635-2insCA (n.2635-3_2635-2insCA)
c.2500-3_2500-2insCA (n.2500-3_2500-2insCA)
c.1489-3_1489-2insCA (n.1489-3_1489-2insCA)
 dbSNP ExAC gnomAD v4
12g.101761766G=CA2058953283GNPTABc.2716-3C= (n.2716-3C=)
c.2635-3C= (n.2635-3C=)
c.2500-3C= (n.2500-3C=)
c.1489-3C= (n.1489-3C=)
12g.101761766G>TCA2620428762GNPTABc.2716-3C>A (n.2716-3C>A)
c.2635-3C>A (n.2635-3C>A)
c.2500-3C>A (n.2500-3C>A)
c.1489-3C>A (n.1489-3C>A)
 gnomAD v4
12g.101761766_101761768delinsGAACA2058953281GNPTABc.2716-5_2716-3delinsTTC (n.2716-5_2716-3delinsTTC)
c.2635-5_2635-3delinsTTC (n.2635-5_2635-3delinsTTC)
c.2500-5_2500-3delinsTTC (n.2500-5_2500-3delinsTTC)
c.1489-5_1489-3delinsTTC (n.1489-5_1489-3delinsTTC)
12g.101761766_101761767insGAAATACTTTTTTTTCTCCCATGGCCA6746358GNPTABc.2716-4_2716-3insGCCATGGGAGAAAAAAAAGTATTTC (n.2716-4_2716-3insGCCATGGGAGAAAAAAAAGTATTTC)
c.2635-4_2635-3insGCCATGGGAGAAAAAAAAGTATTTC (n.2635-4_2635-3insGCCATGGGAGAAAAAAAAGTATTTC)
c.2500-4_2500-3insGCCATGGGAGAAAAAAAAGTATTTC (n.2500-4_2500-3insGCCATGGGAGAAAAAAAAGTATTTC)
c.1489-4_1489-3insGCCATGGGAGAAAAAAAAGTATTTC (n.1489-4_1489-3insGCCATGGGAGAAAAAAAAGTATTTC)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761766_101761767insGAAATACTTTTTTTTCTCCCATGGCACA6746359GNPTABc.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC (n.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC)
c.2635-4_2635-3insTGCCATGGGAGAAAAAAAAGTATTTC (n.2635-4_2635-3insTGCCATGGGAGAAAAAAAAGTATTTC)
c.2500-4_2500-3insTGCCATGGGAGAAAAAAAAGTATTTC (n.2500-4_2500-3insTGCCATGGGAGAAAAAAAAGTATTTC)
c.1489-4_1489-3insTGCCATGGGAGAAAAAAAAGTATTTC (n.1489-4_1489-3insTGCCATGGGAGAAAAAAAAGTATTTC)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761770dupCA2620428763GNPTABc.2716-4dup (n.2716-4dup)
c.2635-4dup (n.2635-4dup)
c.2500-4dup (n.2500-4dup)
c.1489-4dup (n.1489-4dup)
 gnomAD v4
12g.101761769_101761770delCA2058953287GNPTABc.2716-5_2716-4del (n.2716-5_2716-4del)
c.2635-5_2635-4del (n.2635-5_2635-4del)
c.2500-5_2500-4del (n.2500-5_2500-4del)
c.1489-5_1489-4del (n.1489-5_1489-4del)
 dbSNP gnomAD v4
12g.101761769_101761770insTACTTTTTTTTCTCCCATGGCAACA2620428764GNPTABc.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT (n.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT)
c.2635-5_2635-4insGCCATGGGAGAAAAAAAAGTATT (n.2635-5_2635-4insGCCATGGGAGAAAAAAAAGTATT)
c.2500-5_2500-4insGCCATGGGAGAAAAAAAAGTATT (n.2500-5_2500-4insGCCATGGGAGAAAAAAAAGTATT)
c.1489-5_1489-4insGCCATGGGAGAAAAAAAAGTATT (n.1489-5_1489-4insGCCATGGGAGAAAAAAAAGTATT)
 gnomAD v4
12g.101761769A>TCA2797214280GNPTABc.2716-6T>A (n.2716-6T>A)
c.2635-6T>A (n.2635-6T>A)
c.2500-6T>A (n.2500-6T>A)
c.1489-6T>A (n.1489-6T>A)
12g.101761770A>GCA2620428765GNPTABc.2716-7T>C (n.2716-7T>C)
c.2635-7T>C (n.2635-7T>C)
c.2500-7T>C (n.2500-7T>C)
c.1489-7T>C (n.1489-7T>C)
 gnomAD v4
12g.101761771G>TCA2620428766GNPTABc.2716-8C>A (n.2716-8C>A)
c.2635-8C>A (n.2635-8C>A)
c.2500-8C>A (n.2500-8C>A)
c.1489-8C>A (n.1489-8C>A)
 gnomAD v4
12g.101761773G=CA2058953290GNPTABc.2716-10C= (n.2716-10C=)
c.2635-10C= (n.2635-10C=)
c.2500-10C= (n.2500-10C=)
c.1489-10C= (n.1489-10C=)
12g.101761773G>TCA682784296GNPTABc.2716-10C>A (n.2716-10C>A)
c.2635-10C>A (n.2635-10C>A)
c.2500-10C>A (n.2500-10C>A)
c.1489-10C>A (n.1489-10C>A)
 dbSNP gnomAD v4
12g.101761775delCA2620428767GNPTABc.2716-11del (n.2716-11del)
c.2635-11del (n.2635-11del)
c.2500-11del (n.2500-11del)
c.1489-11del (n.1489-11del)
 gnomAD v4
12g.101761776T>ACA607153490GNPTABc.2716-13A>T (n.2716-13A>T)
c.2635-13A>T (n.2635-13A>T)
c.2500-13A>T (n.2500-13A>T)
c.1489-13A>T (n.1489-13A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.101761776T>GCA242454428GNPTABc.2716-13A>C (n.2716-13A>C)
c.2635-13A>C (n.2635-13A>C)
c.2500-13A>C (n.2500-13A>C)
c.1489-13A>C (n.1489-13A>C)
 dbSNP gnomAD v3 gnomAD v4
12g.101761776T=CA2058953292GNPTABc.2716-13A= (n.2716-13A=)
c.2635-13A= (n.2635-13A=)
c.2500-13A= (n.2500-13A=)
c.1489-13A= (n.1489-13A=)
12g.101761778C>TCA2620428768GNPTABc.2716-15G>A (n.2716-15G>A)
c.2635-15G>A (n.2635-15G>A)
c.2500-15G>A (n.2500-15G>A)
c.1489-15G>A (n.1489-15G>A)
 gnomAD v4
12g.101761780A=CA2058953296GNPTABc.2716-17T= (n.2716-17T=)
c.2635-17T= (n.2635-17T=)
c.2500-17T= (n.2500-17T=)
c.1489-17T= (n.1489-17T=)
12g.101761780A>GCA2058953295GNPTABc.2716-17T>C (n.2716-17T>C)
c.2635-17T>C (n.2635-17T>C)
c.2500-17T>C (n.2500-17T>C)
c.1489-17T>C (n.1489-17T>C)
 ClinVar dbSNP gnomAD v4
12g.101761781C=CA2058953299GNPTABc.2716-18G= (n.2716-18G=)
c.2635-18G= (n.2635-18G=)
c.2500-18G= (n.2500-18G=)
c.1489-18G= (n.1489-18G=)
12g.101761781C>TCA6746360GNPTABc.2716-18G>A (n.2716-18G>A)
c.2635-18G>A (n.2635-18G>A)
c.2500-18G>A (n.2500-18G>A)
c.1489-18G>A (n.1489-18G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761782A=CA2058953302GNPTABc.2716-19T= (n.2716-19T=)
c.2635-19T= (n.2635-19T=)
c.2500-19T= (n.2500-19T=)
c.1489-19T= (n.1489-19T=)
12g.101761782A>CCA607153491GNPTABc.2716-19T>G (n.2716-19T>G)
c.2635-19T>G (n.2635-19T>G)
c.2500-19T>G (n.2500-19T>G)
c.1489-19T>G (n.1489-19T>G)
 dbSNP gnomAD v2 gnomAD v4
12g.101761782A>GCA607153492GNPTABc.2716-19T>C (n.2716-19T>C)
c.2635-19T>C (n.2635-19T>C)
c.2500-19T>C (n.2500-19T>C)
c.1489-19T>C (n.1489-19T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.101761783delCA2620444153GNPTABc.2716-20del (n.2716-20del)
c.2635-20del (n.2635-20del)
c.2500-20del (n.2500-20del)
c.1489-20del (n.1489-20del)
 gnomAD v4
12g.101761783T>ACA6746361GNPTABc.2716-20A>T (n.2716-20A>T)
c.2635-20A>T (n.2635-20A>T)
c.2500-20A>T (n.2500-20A>T)
c.1489-20A>T (n.1489-20A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.101761783T>CCA682784328GNPTABc.2716-20A>G (n.2716-20A>G)
c.2635-20A>G (n.2635-20A>G)
c.2500-20A>G (n.2500-20A>G)
c.1489-20A>G (n.1489-20A>G)
 ClinVar dbSNP gnomAD v4
12g.101761783T=CA2058953306GNPTABc.2716-20A= (n.2716-20A=)
c.2635-20A= (n.2635-20A=)
c.2500-20A= (n.2500-20A=)
c.1489-20A= (n.1489-20A=)
12g.101761784G>ACA6746362GNPTABc.2716-21C>T (n.2716-21C>T)
c.2635-21C>T (n.2635-21C>T)
c.2500-21C>T (n.2500-21C>T)
c.1489-21C>T (n.1489-21C>T)
 dbSNP ExAC gnomAD v2
12g.101761784G>CCA682784333GNPTABc.2716-21C>G (n.2716-21C>G)
c.2635-21C>G (n.2635-21C>G)
c.2500-21C>G (n.2500-21C>G)
c.1489-21C>G (n.1489-21C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.101761784G=CA2058953311GNPTABc.2716-21C= (n.2716-21C=)
c.2635-21C= (n.2635-21C=)
c.2500-21C= (n.2500-21C=)
c.1489-21C= (n.1489-21C=)
12g.101761784G>TCA2620444172GNPTABc.2716-21C>A (n.2716-21C>A)
c.2635-21C>A (n.2635-21C>A)
c.2500-21C>A (n.2500-21C>A)
c.1489-21C>A (n.1489-21C>A)
 gnomAD v4
12g.101761785T>ACA2620444173GNPTABc.2716-22A>T (n.2716-22A>T)
c.2635-22A>T (n.2635-22A>T)
c.2500-22A>T (n.2500-22A>T)
c.1489-22A>T (n.1489-22A>T)
 gnomAD v4
12g.101761785T>CCA2620444174GNPTABc.2716-22A>G (n.2716-22A>G)
c.2635-22A>G (n.2635-22A>G)
c.2500-22A>G (n.2500-22A>G)
c.1489-22A>G (n.1489-22A>G)
 gnomAD v4
12g.101761788C>TCA2620444175GNPTABc.2716-25G>A (n.2716-25G>A)
c.2635-25G>A (n.2635-25G>A)
c.2500-25G>A (n.2500-25G>A)
c.1489-25G>A (n.1489-25G>A)
 gnomAD v4
12g.101761789T>CCA2620444176GNPTABc.2716-26A>G (n.2716-26A>G)
c.2635-26A>G (n.2635-26A>G)
c.2500-26A>G (n.2500-26A>G)
c.1489-26A>G (n.1489-26A>G)
 gnomAD v4
12g.101761789T>GCA2620444177GNPTABc.2716-26A>C (n.2716-26A>C)
c.2635-26A>C (n.2635-26A>C)
c.2500-26A>C (n.2500-26A>C)
c.1489-26A>C (n.1489-26A>C)
 gnomAD v4
12g.101761790C=CA2058953313GNPTABc.2716-27G= (n.2716-27G=)
c.2635-27G= (n.2635-27G=)
c.2500-27G= (n.2500-27G=)
c.1489-27G= (n.1489-27G=)
12g.101761790C>GCA6746363GNPTABc.2716-27G>C (n.2716-27G>C)
c.2635-27G>C (n.2635-27G>C)
c.2500-27G>C (n.2500-27G>C)
c.1489-27G>C (n.1489-27G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761791A=CA2058953315GNPTABc.2716-28T= (n.2716-28T=)
c.2635-28T= (n.2635-28T=)
c.2500-28T= (n.2500-28T=)
c.1489-28T= (n.1489-28T=)
12g.101761791A>GCA607153497GNPTABc.2716-28T>C (n.2716-28T>C)
c.2635-28T>C (n.2635-28T>C)
c.2500-28T>C (n.2500-28T>C)
c.1489-28T>C (n.1489-28T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.101761791A>TCA2528610480GNPTABc.2716-28T>A (n.2716-28T>A)
c.2635-28T>A (n.2635-28T>A)
c.2500-28T>A (n.2500-28T>A)
c.1489-28T>A (n.1489-28T>A)
12g.101761792G>ACA682784343GNPTABc.2716-29C>T (n.2716-29C>T)
c.2635-29C>T (n.2635-29C>T)
c.2500-29C>T (n.2500-29C>T)
c.1489-29C>T (n.1489-29C>T)
 dbSNP
12g.101761792G=CA2058953317GNPTABc.2716-29C= (n.2716-29C=)
c.2635-29C= (n.2635-29C=)
c.2500-29C= (n.2500-29C=)
c.1489-29C= (n.1489-29C=)
12g.101761792G>TCA2575264954GNPTABc.2716-29C>A (n.2716-29C>A)
c.2635-29C>A (n.2635-29C>A)
c.2500-29C>A (n.2500-29C>A)
c.1489-29C>A (n.1489-29C>A)
 gnomAD v4
12g.101761793C>ACA2513448696GNPTABc.2716-30G>T (n.2716-30G>T)
c.2635-30G>T (n.2635-30G>T)
c.2500-30G>T (n.2500-30G>T)
c.1489-30G>T (n.1489-30G>T)
 gnomAD v4
12g.101761794A=CA2058953319GNPTABc.2716-31T= (n.2716-31T=)
c.2635-31T= (n.2635-31T=)
c.2500-31T= (n.2500-31T=)
c.1489-31T= (n.1489-31T=)
12g.101761794A>GCA951174733GNPTABc.2716-31T>C (n.2716-31T>C)
c.2635-31T>C (n.2635-31T>C)
c.2500-31T>C (n.2500-31T>C)
c.1489-31T>C (n.1489-31T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.101761795T>ACA607153498GNPTABc.2716-32A>T (n.2716-32A>T)
c.2635-32A>T (n.2635-32A>T)
c.2500-32A>T (n.2500-32A>T)
c.1489-32A>T (n.1489-32A>T)
 dbSNP gnomAD v2 gnomAD v4
12g.101761795T=CA2058953321GNPTABc.2716-32A= (n.2716-32A=)
c.2635-32A= (n.2635-32A=)
c.2500-32A= (n.2500-32A=)
c.1489-32A= (n.1489-32A=)
12g.101761796T>ACA2620444179GNPTABc.2716-33A>T (n.2716-33A>T)
c.2635-33A>T (n.2635-33A>T)
c.2500-33A>T (n.2500-33A>T)
c.1489-33A>T (n.1489-33A>T)
 gnomAD v4
12g.101761796T>CCA682784360GNPTABc.2716-33A>G (n.2716-33A>G)
c.2635-33A>G (n.2635-33A>G)
c.2500-33A>G (n.2500-33A>G)
c.1489-33A>G (n.1489-33A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.101761796T=CA2058953323GNPTABc.2716-33A= (n.2716-33A=)
c.2635-33A= (n.2635-33A=)
c.2500-33A= (n.2500-33A=)
c.1489-33A= (n.1489-33A=)
12g.101761797A>GCA2620444181GNPTABc.2716-34T>C (n.2716-34T>C)
c.2635-34T>C (n.2635-34T>C)
c.2500-34T>C (n.2500-34T>C)
c.1489-34T>C (n.1489-34T>C)
 gnomAD v4
12g.101761798T>ACA2620444184GNPTABc.2716-35A>T (n.2716-35A>T)
c.2635-35A>T (n.2635-35A>T)
c.2500-35A>T (n.2500-35A>T)
c.1489-35A>T (n.1489-35A>T)
 gnomAD v4
12g.101761798T>CCA481319016GNPTABc.2716-35A>G (n.2716-35A>G)
c.2635-35A>G (n.2635-35A>G)
c.2500-35A>G (n.2500-35A>G)
c.1489-35A>G (n.1489-35A>G)
 dbSNP gnomAD v4
12g.101761798T=CA2058953325GNPTABc.2716-35A= (n.2716-35A=)
c.2635-35A= (n.2635-35A=)
c.2500-35A= (n.2500-35A=)
c.1489-35A= (n.1489-35A=)
12g.101761799G>ACA6746364GNPTABc.2716-36C>T (n.2716-36C>T)
c.2635-36C>T (n.2635-36C>T)
c.2500-36C>T (n.2500-36C>T)
c.1489-36C>T (n.1489-36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.101761799G=CA2058953327GNPTABc.2716-36C= (n.2716-36C=)
c.2635-36C= (n.2635-36C=)
c.2500-36C= (n.2500-36C=)
c.1489-36C= (n.1489-36C=)
12g.101761799G>TCA2620444188GNPTABc.2716-36C>A (n.2716-36C>A)
c.2635-36C>A (n.2635-36C>A)
c.2500-36C>A (n.2500-36C>A)
c.1489-36C>A (n.1489-36C>A)
 gnomAD v4

Number of alleles fetched