Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.15644722C>ACA351607392BTDc.806C>A (p.Ala269Asp)
c.399+2665C>A (n.399+2665C>A)
c.165+2665C>A (n.165+2665C>A)
c.866C>A (p.Ala289Asp)
c.872C>A (p.Ala291Asp)
c.584C>A (p.Ala195Asp)
c.*2584C>A (n.*2584C>A)
 gnomAD v4
3g.15644722C=CA1347664330BTDc.806C= (p.Ala269=)
c.399+2665C= (n.399+2665C=)
c.165+2665C= (n.165+2665C=)
c.866C= (p.Ala289=)
c.872C= (p.Ala291=)
c.584C= (p.Ala195=)
c.*2584C= (n.*2584C=)
3g.15644722C>GCA351607393BTDc.806C>G (p.Ala269Gly)
c.399+2665C>G (n.399+2665C>G)
c.165+2665C>G (n.165+2665C>G)
c.866C>G (p.Ala289Gly)
c.872C>G (p.Ala291Gly)
c.584C>G (p.Ala195Gly)
c.*2584C>G (n.*2584C>G)
3g.15644722C>TCA16604827BTDc.806C>T (p.Ala269Val)
c.399+2665C>T (n.399+2665C>T)
c.165+2665C>T (n.165+2665C>T)
c.866C>T (p.Ala289Val)
c.872C>T (p.Ala291Val)
c.584C>T (p.Ala195Val)
c.*2584C>T (n.*2584C>T)
 ClinVar dbSNP
3g.15644723T>ACA432819465BTDc.807T>A (p.Ala269=)
c.399+2666T>A (n.399+2666T>A)
c.165+2666T>A (n.165+2666T>A)
c.867T>A (p.Ala289=)
c.873T>A (p.Ala291=)
c.585T>A (p.Ala195=)
c.*2585T>A (n.*2585T>A)
3g.15644723T>CCA432819466BTDc.807T>C (p.Ala269=)
c.399+2666T>C (n.399+2666T>C)
c.165+2666T>C (n.165+2666T>C)
c.867T>C (p.Ala289=)
c.873T>C (p.Ala291=)
c.585T>C (p.Ala195=)
c.*2585T>C (n.*2585T>C)
3g.15644723T>GCA432819467BTDc.807T>G (p.Ala269=)
c.399+2666T>G (n.399+2666T>G)
c.165+2666T>G (n.165+2666T>G)
c.867T>G (p.Ala289=)
c.873T>G (p.Ala291=)
c.585T>G (p.Ala195=)
c.*2585T>G (n.*2585T>G)
3g.15644723dupCA2277387BTDc.807dup (p.Val270CysfsTer11)
c.399+2666dup (n.399+2666dup)
c.165+2666dup (n.165+2666dup)
c.867dup (p.Val290CysfsTer11)
c.873dup (p.Val292CysfsTer11)
c.585dup (p.Val196CysfsTer11)
c.*2585dup (n.*2585dup)
 dbSNP ExAC gnomAD v2
3g.15644724G>ACA2277388BTDc.808G>A (p.Val270Ile)
c.399+2667G>A (n.399+2667G>A)
c.165+2667G>A (n.165+2667G>A)
c.868G>A (p.Val290Ile)
c.874G>A (p.Val292Ile)
c.586G>A (p.Val196Ile)
c.*2586G>A (n.*2586G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644724G>CCA351607394BTDc.808G>C (p.Val270Leu)
c.399+2667G>C (n.399+2667G>C)
c.165+2667G>C (n.165+2667G>C)
c.868G>C (p.Val290Leu)
c.874G>C (p.Val292Leu)
c.586G>C (p.Val196Leu)
c.*2586G>C (n.*2586G>C)
 gnomAD v4
3g.15644724G=CA1347664336BTDc.808G= (p.Val270=)
c.399+2667G= (n.399+2667G=)
c.165+2667G= (n.165+2667G=)
c.868G= (p.Val290=)
c.874G= (p.Val292=)
c.586G= (p.Val196=)
c.*2586G= (n.*2586G=)
3g.15644724G>TCA351607395BTDc.808G>T (p.Val270Phe)
c.399+2667G>T (n.399+2667G>T)
c.165+2667G>T (n.165+2667G>T)
c.868G>T (p.Val290Phe)
c.874G>T (p.Val292Phe)
c.586G>T (p.Val196Phe)
c.*2586G>T (n.*2586G>T)
3g.15644725T>ACA351607396BTDc.809T>A (p.Val270Asp)
c.399+2668T>A (n.399+2668T>A)
c.165+2668T>A (n.165+2668T>A)
c.869T>A (p.Val290Asp)
c.875T>A (p.Val292Asp)
c.587T>A (p.Val196Asp)
c.*2587T>A (n.*2587T>A)
3g.15644725T>CCA351607397BTDc.809T>C (p.Val270Ala)
c.399+2668T>C (n.399+2668T>C)
c.165+2668T>C (n.165+2668T>C)
c.869T>C (p.Val290Ala)
c.875T>C (p.Val292Ala)
c.587T>C (p.Val196Ala)
c.*2587T>C (n.*2587T>C)
3g.15644725T>GCA351607398BTDc.809T>G (p.Val270Gly)
c.399+2668T>G (n.399+2668T>G)
c.165+2668T>G (n.165+2668T>G)
c.869T>G (p.Val290Gly)
c.875T>G (p.Val292Gly)
c.587T>G (p.Val196Gly)
c.*2587T>G (n.*2587T>G)
3g.15644726T>ACA432819473BTDc.810T>A (p.Val270=)
c.399+2669T>A (n.399+2669T>A)
c.165+2669T>A (n.165+2669T>A)
c.870T>A (p.Val290=)
c.876T>A (p.Val292=)
c.588T>A (p.Val196=)
c.*2588T>A (n.*2588T>A)
3g.15644726T>CCA432819474BTDc.810T>C (p.Val270=)
c.399+2669T>C (n.399+2669T>C)
c.165+2669T>C (n.165+2669T>C)
c.870T>C (p.Val290=)
c.876T>C (p.Val292=)
c.588T>C (p.Val196=)
c.*2588T>C (n.*2588T>C)
3g.15644726T>GCA432819475BTDc.810T>G (p.Val270=)
c.399+2669T>G (n.399+2669T>G)
c.165+2669T>G (n.165+2669T>G)
c.870T>G (p.Val290=)
c.876T>G (p.Val292=)
c.588T>G (p.Val196=)
c.*2588T>G (n.*2588T>G)
 dbSNP gnomAD v3 gnomAD v4
3g.15644726T=CA1347664340BTDc.810T= (p.Val270=)
c.399+2669T= (n.399+2669T=)
c.165+2669T= (n.165+2669T=)
c.870T= (p.Val290=)
c.876T= (p.Val292=)
c.588T= (p.Val196=)
c.*2588T= (n.*2588T=)
3g.15644727G>ACA351607399BTDc.811G>A (p.Ala271Thr)
c.399+2670G>A (n.399+2670G>A)
c.165+2670G>A (n.165+2670G>A)
c.871G>A (p.Ala291Thr)
c.877G>A (p.Ala293Thr)
c.589G>A (p.Ala197Thr)
c.*2589G>A (n.*2589G>A)
3g.15644727G>CCA351607400BTDc.811G>C (p.Ala271Pro)
c.399+2670G>C (n.399+2670G>C)
c.165+2670G>C (n.165+2670G>C)
c.871G>C (p.Ala291Pro)
c.877G>C (p.Ala293Pro)
c.589G>C (p.Ala197Pro)
c.*2589G>C (n.*2589G>C)
3g.15644727G>TCA351607401BTDc.811G>T (p.Ala271Ser)
c.399+2670G>T (n.399+2670G>T)
c.165+2670G>T (n.165+2670G>T)
c.871G>T (p.Ala291Ser)
c.877G>T (p.Ala293Ser)
c.589G>T (p.Ala197Ser)
c.*2589G>T (n.*2589G>T)
3g.15644728C>ACA351607402BTDc.812C>A (p.Ala271Asp)
c.399+2671C>A (n.399+2671C>A)
c.165+2671C>A (n.165+2671C>A)
c.872C>A (p.Ala291Asp)
c.878C>A (p.Ala293Asp)
c.590C>A (p.Ala197Asp)
c.*2590C>A (n.*2590C>A)
 dbSNP gnomAD v4
3g.15644728C=CA1347664343BTDc.812C= (p.Ala271=)
c.399+2671C= (n.399+2671C=)
c.165+2671C= (n.165+2671C=)
c.872C= (p.Ala291=)
c.878C= (p.Ala293=)
c.590C= (p.Ala197=)
c.*2590C= (n.*2590C=)
3g.15644728C>GCA351607403BTDc.812C>G (p.Ala271Gly)
c.399+2671C>G (n.399+2671C>G)
c.165+2671C>G (n.165+2671C>G)
c.872C>G (p.Ala291Gly)
c.878C>G (p.Ala293Gly)
c.590C>G (p.Ala197Gly)
c.*2590C>G (n.*2590C>G)
3g.15644728C>TCA351607404BTDc.812C>T (p.Ala271Val)
c.399+2671C>T (n.399+2671C>T)
c.165+2671C>T (n.165+2671C>T)
c.872C>T (p.Ala291Val)
c.878C>T (p.Ala293Val)
c.590C>T (p.Ala197Val)
c.*2590C>T (n.*2590C>T)
3g.15644729delCA2664667153BTDc.813del (p.Phe272LeufsTer17)
c.399+2672del (n.399+2672del)
c.165+2672del (n.165+2672del)
c.873del (p.Phe292LeufsTer17)
c.879del (p.Phe294LeufsTer17)
c.591del (p.Phe198LeufsTer17)
c.*2591del (n.*2591del)
 gnomAD v4
3g.15644729C>ACA432819477BTDc.813C>A (p.Ala271=)
c.399+2672C>A (n.399+2672C>A)
c.165+2672C>A (n.165+2672C>A)
c.873C>A (p.Ala291=)
c.879C>A (p.Ala293=)
c.591C>A (p.Ala197=)
c.*2591C>A (n.*2591C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15644729C=CA1347664345BTDc.813C= (p.Ala271=)
c.399+2672C= (n.399+2672C=)
c.165+2672C= (n.165+2672C=)
c.873C= (p.Ala291=)
c.879C= (p.Ala293=)
c.591C= (p.Ala197=)
c.*2591C= (n.*2591C=)
3g.15644729C>GCA432819478BTDc.813C>G (p.Ala271=)
c.399+2672C>G (n.399+2672C>G)
c.165+2672C>G (n.165+2672C>G)
c.873C>G (p.Ala291=)
c.879C>G (p.Ala293=)
c.591C>G (p.Ala197=)
c.*2591C>G (n.*2591C>G)
3g.15644729C>TCA432819480BTDc.813C>T (p.Ala271=)
c.399+2672C>T (n.399+2672C>T)
c.165+2672C>T (n.165+2672C>T)
c.873C>T (p.Ala291=)
c.879C>T (p.Ala293=)
c.591C>T (p.Ala197=)
c.*2591C>T (n.*2591C>T)
 gnomAD v4
3g.15644730T>ACA351607405BTDc.814T>A (p.Phe272Ile)
c.399+2673T>A (n.399+2673T>A)
c.165+2673T>A (n.165+2673T>A)
c.874T>A (p.Phe292Ile)
c.880T>A (p.Phe294Ile)
c.592T>A (p.Phe198Ile)
c.*2592T>A (n.*2592T>A)
3g.15644730T>CCA351607406BTDc.814T>C (p.Phe272Leu)
c.399+2673T>C (n.399+2673T>C)
c.165+2673T>C (n.165+2673T>C)
c.874T>C (p.Phe292Leu)
c.880T>C (p.Phe294Leu)
c.592T>C (p.Phe198Leu)
c.*2592T>C (n.*2592T>C)
3g.15644730T>GCA351607407BTDc.814T>G (p.Phe272Val)
c.399+2673T>G (n.399+2673T>G)
c.165+2673T>G (n.165+2673T>G)
c.874T>G (p.Phe292Val)
c.880T>G (p.Phe294Val)
c.592T>G (p.Phe198Val)
c.*2592T>G (n.*2592T>G)
3g.15644731T>ACA351607410BTDc.815T>A (p.Phe272Tyr)
c.399+2674T>A (n.399+2674T>A)
c.165+2674T>A (n.165+2674T>A)
c.875T>A (p.Phe292Tyr)
c.881T>A (p.Phe294Tyr)
c.593T>A (p.Phe198Tyr)
c.*2593T>A (n.*2593T>A)
3g.15644731T>CCA351607408BTDc.815T>C (p.Phe272Ser)
c.399+2674T>C (n.399+2674T>C)
c.165+2674T>C (n.165+2674T>C)
c.875T>C (p.Phe292Ser)
c.881T>C (p.Phe294Ser)
c.593T>C (p.Phe198Ser)
c.*2593T>C (n.*2593T>C)
3g.15644731T>GCA351607409BTDc.815T>G (p.Phe272Cys)
c.399+2674T>G (n.399+2674T>G)
c.165+2674T>G (n.165+2674T>G)
c.875T>G (p.Phe292Cys)
c.881T>G (p.Phe294Cys)
c.593T>G (p.Phe198Cys)
c.*2593T>G (n.*2593T>G)
3g.15644732T>ACA351607411BTDc.816T>A (p.Phe272Leu)
c.399+2675T>A (n.399+2675T>A)
c.165+2675T>A (n.165+2675T>A)
c.876T>A (p.Phe292Leu)
c.882T>A (p.Phe294Leu)
c.594T>A (p.Phe198Leu)
c.*2594T>A (n.*2594T>A)
3g.15644732T>CCA432819486BTDc.816T>C (p.Phe272=)
c.399+2675T>C (n.399+2675T>C)
c.165+2675T>C (n.165+2675T>C)
c.876T>C (p.Phe292=)
c.882T>C (p.Phe294=)
c.594T>C (p.Phe198=)
c.*2594T>C (n.*2594T>C)
3g.15644732T>GCA351607412BTDc.816T>G (p.Phe272Leu)
c.399+2675T>G (n.399+2675T>G)
c.165+2675T>G (n.165+2675T>G)
c.876T>G (p.Phe292Leu)
c.882T>G (p.Phe294Leu)
c.594T>G (p.Phe198Leu)
c.*2594T>G (n.*2594T>G)
3g.15644733G>ACA2277390BTDc.817G>A (p.Gly273Ser)
c.399+2676G>A (n.399+2676G>A)
c.165+2676G>A (n.165+2676G>A)
c.877G>A (p.Gly293Ser)
c.883G>A (p.Gly295Ser)
c.595G>A (p.Gly199Ser)
c.*2595G>A (n.*2595G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644733G>CCA2277389BTDc.817G>C (p.Gly273Arg)
c.399+2676G>C (n.399+2676G>C)
c.165+2676G>C (n.165+2676G>C)
c.877G>C (p.Gly293Arg)
c.883G>C (p.Gly295Arg)
c.595G>C (p.Gly199Arg)
c.*2595G>C (n.*2595G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644733G=CA1347664349BTDc.817G= (p.Gly273=)
c.399+2676G= (n.399+2676G=)
c.165+2676G= (n.165+2676G=)
c.877G= (p.Gly293=)
c.883G= (p.Gly295=)
c.595G= (p.Gly199=)
c.*2595G= (n.*2595G=)
3g.15644733G>TCA351607413BTDc.817G>T (p.Gly273Cys)
c.399+2676G>T (n.399+2676G>T)
c.165+2676G>T (n.165+2676G>T)
c.877G>T (p.Gly293Cys)
c.883G>T (p.Gly295Cys)
c.595G>T (p.Gly199Cys)
c.*2595G>T (n.*2595G>T)
3g.15644734G>ACA2277391BTDc.818G>A (p.Gly273Asp)
c.399+2677G>A (n.399+2677G>A)
c.165+2677G>A (n.165+2677G>A)
c.878G>A (p.Gly293Asp)
c.884G>A (p.Gly295Asp)
c.596G>A (p.Gly199Asp)
c.*2596G>A (n.*2596G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644734G>CCA351607414BTDc.818G>C (p.Gly273Ala)
c.399+2677G>C (n.399+2677G>C)
c.165+2677G>C (n.165+2677G>C)
c.878G>C (p.Gly293Ala)
c.884G>C (p.Gly295Ala)
c.596G>C (p.Gly199Ala)
c.*2596G>C (n.*2596G>C)
 dbSNP
3g.15644734G=CA1347664358BTDc.818G= (p.Gly273=)
c.399+2677G= (n.399+2677G=)
c.165+2677G= (n.165+2677G=)
c.878G= (p.Gly293=)
c.884G= (p.Gly295=)
c.596G= (p.Gly199=)
c.*2596G= (n.*2596G=)
3g.15644734G>TCA351607415BTDc.818G>T (p.Gly273Val)
c.399+2677G>T (n.399+2677G>T)
c.165+2677G>T (n.165+2677G>T)
c.878G>T (p.Gly293Val)
c.884G>T (p.Gly295Val)
c.596G>T (p.Gly199Val)
c.*2596G>T (n.*2596G>T)
3g.15644735C>ACA432819492BTDc.819C>A (p.Gly273=)
c.399+2678C>A (n.399+2678C>A)
c.165+2678C>A (n.165+2678C>A)
c.879C>A (p.Gly293=)
c.885C>A (p.Gly295=)
c.597C>A (p.Gly199=)
c.*2597C>A (n.*2597C>A)
3g.15644735C>GCA432819493BTDc.819C>G (p.Gly273=)
c.399+2678C>G (n.399+2678C>G)
c.165+2678C>G (n.165+2678C>G)
c.879C>G (p.Gly293=)
c.885C>G (p.Gly295=)
c.597C>G (p.Gly199=)
c.*2597C>G (n.*2597C>G)
3g.15644735C>TCA432819494BTDc.819C>T (p.Gly273=)
c.399+2678C>T (n.399+2678C>T)
c.165+2678C>T (n.165+2678C>T)
c.879C>T (p.Gly293=)
c.885C>T (p.Gly295=)
c.597C>T (p.Gly199=)
c.*2597C>T (n.*2597C>T)
3g.15644736A=CA1347664364BTDc.820A= (p.Ile274=)
c.399+2679A= (n.399+2679A=)
c.165+2679A= (n.165+2679A=)
c.880A= (p.Ile294=)
c.886A= (p.Ile296=)
c.598A= (p.Ile200=)
c.*2598A= (n.*2598A=)
3g.15644736A>CCA351607416BTDc.820A>C (p.Ile274Leu)
c.399+2679A>C (n.399+2679A>C)
c.165+2679A>C (n.165+2679A>C)
c.880A>C (p.Ile294Leu)
c.886A>C (p.Ile296Leu)
c.598A>C (p.Ile200Leu)
c.*2598A>C (n.*2598A>C)
3g.15644736A>GCA278270BTDc.820A>G (p.Ile274Val)
c.399+2679A>G (n.399+2679A>G)
c.165+2679A>G (n.165+2679A>G)
c.880A>G (p.Ile294Val)
c.886A>G (p.Ile296Val)
c.598A>G (p.Ile200Val)
c.*2598A>G (n.*2598A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644736A>TCA351607417BTDc.820A>T (p.Ile274Phe)
c.399+2679A>T (n.399+2679A>T)
c.165+2679A>T (n.165+2679A>T)
c.880A>T (p.Ile294Phe)
c.886A>T (p.Ile296Phe)
c.598A>T (p.Ile200Phe)
c.*2598A>T (n.*2598A>T)
 gnomAD v4
3g.15644737T>ACA351607420BTDc.821T>A (p.Ile274Asn)
c.399+2680T>A (n.399+2680T>A)
c.165+2680T>A (n.165+2680T>A)
c.881T>A (p.Ile294Asn)
c.887T>A (p.Ile296Asn)
c.599T>A (p.Ile200Asn)
c.*2599T>A (n.*2599T>A)
3g.15644737T>CCA351607419BTDc.821T>C (p.Ile274Thr)
c.399+2680T>C (n.399+2680T>C)
c.165+2680T>C (n.165+2680T>C)
c.881T>C (p.Ile294Thr)
c.887T>C (p.Ile296Thr)
c.599T>C (p.Ile200Thr)
c.*2599T>C (n.*2599T>C)
3g.15644737T>GCA351607418BTDc.821T>G (p.Ile274Ser)
c.399+2680T>G (n.399+2680T>G)
c.165+2680T>G (n.165+2680T>G)
c.881T>G (p.Ile294Ser)
c.887T>G (p.Ile296Ser)
c.599T>G (p.Ile200Ser)
c.*2599T>G (n.*2599T>G)
3g.15644738C>ACA432819499BTDc.822C>A (p.Ile274=)
c.399+2681C>A (n.399+2681C>A)
c.165+2681C>A (n.165+2681C>A)
c.882C>A (p.Ile294=)
c.888C>A (p.Ile296=)
c.600C>A (p.Ile200=)
c.*2600C>A (n.*2600C>A)
3g.15644738C>GCA351607421BTDc.822C>G (p.Ile274Met)
c.399+2681C>G (n.399+2681C>G)
c.165+2681C>G (n.165+2681C>G)
c.882C>G (p.Ile294Met)
c.888C>G (p.Ile296Met)
c.600C>G (p.Ile200Met)
c.*2600C>G (n.*2600C>G)
3g.15644738C>TCA432819501BTDc.822C>T (p.Ile274=)
c.399+2681C>T (n.399+2681C>T)
c.165+2681C>T (n.165+2681C>T)
c.882C>T (p.Ile294=)
c.888C>T (p.Ile296=)
c.600C>T (p.Ile200=)
c.*2600C>T (n.*2600C>T)
3g.15644739A>CCA351607422BTDc.823A>C (p.Asn275His)
c.399+2682A>C (n.399+2682A>C)
c.165+2682A>C (n.165+2682A>C)
c.883A>C (p.Asn295His)
c.889A>C (p.Asn297His)
c.601A>C (p.Asn201His)
c.*2601A>C (n.*2601A>C)
3g.15644739A>GCA351607423BTDc.823A>G (p.Asn275Asp)
c.399+2682A>G (n.399+2682A>G)
c.165+2682A>G (n.165+2682A>G)
c.883A>G (p.Asn295Asp)
c.889A>G (p.Asn297Asp)
c.601A>G (p.Asn201Asp)
c.*2601A>G (n.*2601A>G)
3g.15644739A>TCA351607424BTDc.823A>T (p.Asn275Tyr)
c.399+2682A>T (n.399+2682A>T)
c.165+2682A>T (n.165+2682A>T)
c.883A>T (p.Asn295Tyr)
c.889A>T (p.Asn297Tyr)
c.601A>T (p.Asn201Tyr)
c.*2601A>T (n.*2601A>T)
3g.15644740A>CCA351607425BTDc.824A>C (p.Asn275Thr)
c.399+2683A>C (n.399+2683A>C)
c.165+2683A>C (n.165+2683A>C)
c.884A>C (p.Asn295Thr)
c.890A>C (p.Asn297Thr)
c.602A>C (p.Asn201Thr)
c.*2602A>C (n.*2602A>C)
3g.15644740A>GCA351607426BTDc.824A>G (p.Asn275Ser)
c.399+2683A>G (n.399+2683A>G)
c.165+2683A>G (n.165+2683A>G)
c.884A>G (p.Asn295Ser)
c.890A>G (p.Asn297Ser)
c.602A>G (p.Asn201Ser)
c.*2602A>G (n.*2602A>G)
3g.15644740A>TCA351607427BTDc.824A>T (p.Asn275Ile)
c.399+2683A>T (n.399+2683A>T)
c.165+2683A>T (n.165+2683A>T)
c.884A>T (p.Asn295Ile)
c.890A>T (p.Asn297Ile)
c.602A>T (p.Asn201Ile)
c.*2602A>T (n.*2602A>T)
3g.15644741C>ACA351607428BTDc.825C>A (p.Asn275Lys)
c.399+2684C>A (n.399+2684C>A)
c.165+2684C>A (n.165+2684C>A)
c.885C>A (p.Asn295Lys)
c.891C>A (p.Asn297Lys)
c.603C>A (p.Asn201Lys)
c.*2603C>A (n.*2603C>A)
 ClinVar
3g.15644741C=CA1347664369BTDc.825C= (p.Asn275=)
c.399+2684C= (n.399+2684C=)
c.165+2684C= (n.165+2684C=)
c.885C= (p.Asn295=)
c.891C= (p.Asn297=)
c.603C= (p.Asn201=)
c.*2603C= (n.*2603C=)
3g.15644741C>GCA351607429BTDc.825C>G (p.Asn275Lys)
c.399+2684C>G (n.399+2684C>G)
c.165+2684C>G (n.165+2684C>G)
c.885C>G (p.Asn295Lys)
c.891C>G (p.Asn297Lys)
c.603C>G (p.Asn201Lys)
c.*2603C>G (n.*2603C>G)
3g.15644741C>TCA2277392BTDc.825C>T (p.Asn275=)
c.399+2684C>T (n.399+2684C>T)
c.165+2684C>T (n.165+2684C>T)
c.885C>T (p.Asn295=)
c.891C>T (p.Asn297=)
c.603C>T (p.Asn201=)
c.*2603C>T (n.*2603C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644742G>ACA2277393BTDc.826G>A (p.Val276Ile)
c.399+2685G>A (n.399+2685G>A)
c.165+2685G>A (n.165+2685G>A)
c.886G>A (p.Val296Ile)
c.892G>A (p.Val298Ile)
c.604G>A (p.Val202Ile)
c.*2604G>A (n.*2604G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644742G>CCA351607430BTDc.826G>C (p.Val276Leu)
c.399+2685G>C (n.399+2685G>C)
c.165+2685G>C (n.165+2685G>C)
c.886G>C (p.Val296Leu)
c.892G>C (p.Val298Leu)
c.604G>C (p.Val202Leu)
c.*2604G>C (n.*2604G>C)
 gnomAD v4
3g.15644742G=CA1347664372BTDc.826G= (p.Val276=)
c.399+2685G= (n.399+2685G=)
c.165+2685G= (n.165+2685G=)
c.886G= (p.Val296=)
c.892G= (p.Val298=)
c.604G= (p.Val202=)
c.*2604G= (n.*2604G=)
3g.15644742G>TCA351607431BTDc.826G>T (p.Val276Phe)
c.399+2685G>T (n.399+2685G>T)
c.165+2685G>T (n.165+2685G>T)
c.886G>T (p.Val296Phe)
c.892G>T (p.Val298Phe)
c.604G>T (p.Val202Phe)
c.*2604G>T (n.*2604G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.15644743T>ACA351607433BTDc.827T>A (p.Val276Asp)
c.399+2686T>A (n.399+2686T>A)
c.165+2686T>A (n.165+2686T>A)
c.887T>A (p.Val296Asp)
c.893T>A (p.Val298Asp)
c.605T>A (p.Val202Asp)
c.*2605T>A (n.*2605T>A)
3g.15644743T>CCA351607432BTDc.827T>C (p.Val276Ala)
c.399+2686T>C (n.399+2686T>C)
c.165+2686T>C (n.165+2686T>C)
c.887T>C (p.Val296Ala)
c.893T>C (p.Val298Ala)
c.605T>C (p.Val202Ala)
c.*2605T>C (n.*2605T>C)
3g.15644743T>GCA278272BTDc.827T>G (p.Val276Gly)
c.399+2686T>G (n.399+2686T>G)
c.165+2686T>G (n.165+2686T>G)
c.887T>G (p.Val296Gly)
c.893T>G (p.Val298Gly)
c.605T>G (p.Val202Gly)
c.*2605T>G (n.*2605T>G)
 ClinVar dbSNP gnomAD v4
3g.15644743T=CA1347664377BTDc.827T= (p.Val276=)
c.399+2686T= (n.399+2686T=)
c.165+2686T= (n.165+2686T=)
c.887T= (p.Val296=)
c.893T= (p.Val298=)
c.605T= (p.Val202=)
c.*2605T= (n.*2605T=)
3g.15644744T>ACA432819513BTDc.828T>A (p.Val276=)
c.399+2687T>A (n.399+2687T>A)
c.165+2687T>A (n.165+2687T>A)
c.888T>A (p.Val296=)
c.894T>A (p.Val298=)
c.606T>A (p.Val202=)
c.*2606T>A (n.*2606T>A)
3g.15644744T>CCA432819516BTDc.828T>C (p.Val276=)
c.399+2687T>C (n.399+2687T>C)
c.165+2687T>C (n.165+2687T>C)
c.888T>C (p.Val296=)
c.894T>C (p.Val298=)
c.606T>C (p.Val202=)
c.*2606T>C (n.*2606T>C)
3g.15644744T>GCA432819515BTDc.828T>G (p.Val276=)
c.399+2687T>G (n.399+2687T>G)
c.165+2687T>G (n.165+2687T>G)
c.888T>G (p.Val296=)
c.894T>G (p.Val298=)
c.606T>G (p.Val202=)
c.*2606T>G (n.*2606T>G)
3g.15644745C>ACA351607434BTDc.829C>A (p.Leu277Met)
c.399+2688C>A (n.399+2688C>A)
c.165+2688C>A (n.165+2688C>A)
c.889C>A (p.Leu297Met)
c.895C>A (p.Leu299Met)
c.607C>A (p.Leu203Met)
c.*2607C>A (n.*2607C>A)
3g.15644745C>GCA351607435BTDc.829C>G (p.Leu277Val)
c.399+2688C>G (n.399+2688C>G)
c.165+2688C>G (n.165+2688C>G)
c.889C>G (p.Leu297Val)
c.895C>G (p.Leu299Val)
c.607C>G (p.Leu203Val)
c.*2607C>G (n.*2607C>G)
3g.15644745C>TCA432819520BTDc.829C>T (p.Leu277=)
c.399+2688C>T (n.399+2688C>T)
c.165+2688C>T (n.165+2688C>T)
c.889C>T (p.Leu297=)
c.895C>T (p.Leu299=)
c.607C>T (p.Leu203=)
c.*2607C>T (n.*2607C>T)
 gnomAD v4
3g.15644746T>ACA351607436BTDc.830T>A (p.Leu277Gln)
c.399+2689T>A (n.399+2689T>A)
c.165+2689T>A (n.165+2689T>A)
c.890T>A (p.Leu297Gln)
c.896T>A (p.Leu299Gln)
c.608T>A (p.Leu203Gln)
c.*2608T>A (n.*2608T>A)
3g.15644746T>CCA351607437BTDc.830T>C (p.Leu277Pro)
c.399+2689T>C (n.399+2689T>C)
c.165+2689T>C (n.165+2689T>C)
c.890T>C (p.Leu297Pro)
c.896T>C (p.Leu299Pro)
c.608T>C (p.Leu203Pro)
c.*2608T>C (n.*2608T>C)
3g.15644746T>GCA351607438BTDc.830T>G (p.Leu277Arg)
c.399+2689T>G (n.399+2689T>G)
c.165+2689T>G (n.165+2689T>G)
c.890T>G (p.Leu297Arg)
c.896T>G (p.Leu299Arg)
c.608T>G (p.Leu203Arg)
c.*2608T>G (n.*2608T>G)
3g.15644747G>ACA432819523BTDc.831G>A (p.Leu277=)
c.399+2690G>A (n.399+2690G>A)
c.165+2690G>A (n.165+2690G>A)
c.891G>A (p.Leu297=)
c.897G>A (p.Leu299=)
c.609G>A (p.Leu203=)
c.*2609G>A (n.*2609G>A)
 dbSNP gnomAD v2
3g.15644747G>CCA432819524BTDc.831G>C (p.Leu277=)
c.399+2690G>C (n.399+2690G>C)
c.165+2690G>C (n.165+2690G>C)
c.891G>C (p.Leu297=)
c.897G>C (p.Leu299=)
c.609G>C (p.Leu203=)
c.*2609G>C (n.*2609G>C)
3g.15644747G=CA1347664383BTDc.831G= (p.Leu277=)
c.399+2690G= (n.399+2690G=)
c.165+2690G= (n.165+2690G=)
c.891G= (p.Leu297=)
c.897G= (p.Leu299=)
c.609G= (p.Leu203=)
c.*2609G= (n.*2609G=)
3g.15644747G>TCA432819525BTDc.831G>T (p.Leu277=)
c.399+2690G>T (n.399+2690G>T)
c.165+2690G>T (n.165+2690G>T)
c.891G>T (p.Leu297=)
c.897G>T (p.Leu299=)
c.609G>T (p.Leu203=)
c.*2609G>T (n.*2609G>T)
3g.15644748G>ACA351607439BTDc.832G>A (p.Ala278Thr)
c.399+2691G>A (n.399+2691G>A)
c.165+2691G>A (n.165+2691G>A)
c.892G>A (p.Ala298Thr)
c.898G>A (p.Ala300Thr)
c.610G>A (p.Ala204Thr)
c.*2610G>A (n.*2610G>A)
3g.15644748G>CCA351607440BTDc.832G>C (p.Ala278Pro)
c.399+2691G>C (n.399+2691G>C)
c.165+2691G>C (n.165+2691G>C)
c.892G>C (p.Ala298Pro)
c.898G>C (p.Ala300Pro)
c.610G>C (p.Ala204Pro)
c.*2610G>C (n.*2610G>C)
3g.15644748G>TCA351607441BTDc.832G>T (p.Ala278Ser)
c.399+2691G>T (n.399+2691G>T)
c.165+2691G>T (n.165+2691G>T)
c.892G>T (p.Ala298Ser)
c.898G>T (p.Ala300Ser)
c.610G>T (p.Ala204Ser)
c.*2610G>T (n.*2610G>T)
3g.15644749C>ACA351607442BTDc.833C>A (p.Ala278Glu)
c.399+2692C>A (n.399+2692C>A)
c.165+2692C>A (n.165+2692C>A)
c.893C>A (p.Ala298Glu)
c.899C>A (p.Ala300Glu)
c.611C>A (p.Ala204Glu)
c.*2611C>A (n.*2611C>A)
3g.15644749C>GCA351607443BTDc.833C>G (p.Ala278Gly)
c.399+2692C>G (n.399+2692C>G)
c.165+2692C>G (n.165+2692C>G)
c.893C>G (p.Ala298Gly)
c.899C>G (p.Ala300Gly)
c.611C>G (p.Ala204Gly)
c.*2611C>G (n.*2611C>G)
3g.15644749C>TCA351607444BTDc.833C>T (p.Ala278Val)
c.399+2692C>T (n.399+2692C>T)
c.165+2692C>T (n.165+2692C>T)
c.893C>T (p.Ala298Val)
c.899C>T (p.Ala300Val)
c.611C>T (p.Ala204Val)
c.*2611C>T (n.*2611C>T)
 COSMIC
3g.15644750A>CCA432819529BTDc.834A>C (p.Ala278=)
c.399+2693A>C (n.399+2693A>C)
c.165+2693A>C (n.165+2693A>C)
c.894A>C (p.Ala298=)
c.900A>C (p.Ala300=)
c.612A>C (p.Ala204=)
c.*2612A>C (n.*2612A>C)
3g.15644750A>GCA432819530BTDc.834A>G (p.Ala278=)
c.399+2693A>G (n.399+2693A>G)
c.165+2693A>G (n.165+2693A>G)
c.894A>G (p.Ala298=)
c.900A>G (p.Ala300=)
c.612A>G (p.Ala204=)
c.*2612A>G (n.*2612A>G)
3g.15644750A>TCA432819533BTDc.834A>T (p.Ala278=)
c.399+2693A>T (n.399+2693A>T)
c.165+2693A>T (n.165+2693A>T)
c.894A>T (p.Ala298=)
c.900A>T (p.Ala300=)
c.612A>T (p.Ala204=)
c.*2612A>T (n.*2612A>T)
3g.15644751G>ACA351607447BTDc.835G>A (p.Ala279Thr)
c.399+2694G>A (n.399+2694G>A)
c.165+2694G>A (n.165+2694G>A)
c.895G>A (p.Ala299Thr)
c.901G>A (p.Ala301Thr)
c.613G>A (p.Ala205Thr)
c.*2613G>A (n.*2613G>A)
3g.15644751G>CCA351607446BTDc.835G>C (p.Ala279Pro)
c.399+2694G>C (n.399+2694G>C)
c.165+2694G>C (n.165+2694G>C)
c.895G>C (p.Ala299Pro)
c.901G>C (p.Ala301Pro)
c.613G>C (p.Ala205Pro)
c.*2613G>C (n.*2613G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15644751G=CA1347664387BTDc.835G= (p.Ala279=)
c.399+2694G= (n.399+2694G=)
c.165+2694G= (n.165+2694G=)
c.895G= (p.Ala299=)
c.901G= (p.Ala301=)
c.613G= (p.Ala205=)
c.*2613G= (n.*2613G=)
3g.15644751G>TCA351607445BTDc.835G>T (p.Ala279Ser)
c.399+2694G>T (n.399+2694G>T)
c.165+2694G>T (n.165+2694G>T)
c.895G>T (p.Ala299Ser)
c.901G>T (p.Ala301Ser)
c.613G>T (p.Ala205Ser)
c.*2613G>T (n.*2613G>T)
3g.15644752C>ACA351607448BTDc.836C>A (p.Ala279Asp)
c.399+2695C>A (n.399+2695C>A)
c.165+2695C>A (n.165+2695C>A)
c.896C>A (p.Ala299Asp)
c.902C>A (p.Ala301Asp)
c.614C>A (p.Ala205Asp)
c.*2614C>A (n.*2614C>A)
3g.15644752C=CA1347664393BTDc.836C= (p.Ala279=)
c.399+2695C= (n.399+2695C=)
c.165+2695C= (n.165+2695C=)
c.896C= (p.Ala299=)
c.902C= (p.Ala301=)
c.614C= (p.Ala205=)
c.*2614C= (n.*2614C=)
3g.15644752C>GCA351607449BTDc.836C>G (p.Ala279Gly)
c.399+2695C>G (n.399+2695C>G)
c.165+2695C>G (n.165+2695C>G)
c.896C>G (p.Ala299Gly)
c.902C>G (p.Ala301Gly)
c.614C>G (p.Ala205Gly)
c.*2614C>G (n.*2614C>G)
3g.15644752C>TCA278274BTDc.836C>T (p.Ala279Val)
c.399+2695C>T (n.399+2695C>T)
c.165+2695C>T (n.165+2695C>T)
c.896C>T (p.Ala299Val)
c.902C>T (p.Ala301Val)
c.614C>T (p.Ala205Val)
c.*2614C>T (n.*2614C>T)
 ClinVar dbSNP gnomAD v4
3g.15644753T>ACA432819540BTDc.837T>A (p.Ala279=)
c.399+2696T>A (n.399+2696T>A)
c.165+2696T>A (n.165+2696T>A)
c.897T>A (p.Ala299=)
c.903T>A (p.Ala301=)
c.615T>A (p.Ala205=)
c.*2615T>A (n.*2615T>A)
3g.15644753T>CCA432819538BTDc.837T>C (p.Ala279=)
c.399+2696T>C (n.399+2696T>C)
c.165+2696T>C (n.165+2696T>C)
c.897T>C (p.Ala299=)
c.903T>C (p.Ala301=)
c.615T>C (p.Ala205=)
c.*2615T>C (n.*2615T>C)
3g.15644753T>GCA432819539BTDc.837T>G (p.Ala279=)
c.399+2696T>G (n.399+2696T>G)
c.165+2696T>G (n.165+2696T>G)
c.897T>G (p.Ala299=)
c.903T>G (p.Ala301=)
c.615T>G (p.Ala205=)
c.*2615T>G (n.*2615T>G)
3g.15644754A=CA1347664398BTDc.838A= (p.Asn280=)
c.399+2697A= (n.399+2697A=)
c.165+2697A= (n.165+2697A=)
c.898A= (p.Asn300=)
c.904A= (p.Asn302=)
c.616A= (p.Asn206=)
c.*2616A= (n.*2616A=)
3g.15644754A>CCA278441BTDc.838A>C (p.Asn280His)
c.399+2697A>C (n.399+2697A>C)
c.165+2697A>C (n.165+2697A>C)
c.898A>C (p.Asn300His)
c.904A>C (p.Asn302His)
c.616A>C (p.Asn206His)
c.*2616A>C (n.*2616A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15644754A>GCA351607450BTDc.838A>G (p.Asn280Asp)
c.399+2697A>G (n.399+2697A>G)
c.165+2697A>G (n.165+2697A>G)
c.898A>G (p.Asn300Asp)
c.904A>G (p.Asn302Asp)
c.616A>G (p.Asn206Asp)
c.*2616A>G (n.*2616A>G)
3g.15644754A>TCA351607451BTDc.838A>T (p.Asn280Tyr)
c.399+2697A>T (n.399+2697A>T)
c.165+2697A>T (n.165+2697A>T)
c.898A>T (p.Asn300Tyr)
c.904A>T (p.Asn302Tyr)
c.616A>T (p.Asn206Tyr)
c.*2616A>T (n.*2616A>T)
3g.15644755A>CCA351607452BTDc.839A>C (p.Asn280Thr)
c.399+2698A>C (n.399+2698A>C)
c.165+2698A>C (n.165+2698A>C)
c.899A>C (p.Asn300Thr)
c.905A>C (p.Asn302Thr)
c.617A>C (p.Asn206Thr)
c.*2617A>C (n.*2617A>C)
3g.15644755A>GCA351607453BTDc.839A>G (p.Asn280Ser)
c.399+2698A>G (n.399+2698A>G)
c.165+2698A>G (n.165+2698A>G)
c.899A>G (p.Asn300Ser)
c.905A>G (p.Asn302Ser)
c.617A>G (p.Asn206Ser)
c.*2617A>G (n.*2617A>G)
3g.15644755A>TCA351607454BTDc.839A>T (p.Asn280Ile)
c.399+2698A>T (n.399+2698A>T)
c.165+2698A>T (n.165+2698A>T)
c.899A>T (p.Asn300Ile)
c.905A>T (p.Asn302Ile)
c.617A>T (p.Asn206Ile)
c.*2617A>T (n.*2617A>T)
3g.15644756T>ACA351607455BTDc.840T>A (p.Asn280Lys)
c.399+2699T>A (n.399+2699T>A)
c.165+2699T>A (n.165+2699T>A)
c.900T>A (p.Asn300Lys)
c.906T>A (p.Asn302Lys)
c.618T>A (p.Asn206Lys)
c.*2618T>A (n.*2618T>A)
3g.15644756T>CCA432819548BTDc.840T>C (p.Asn280=)
c.399+2699T>C (n.399+2699T>C)
c.165+2699T>C (n.165+2699T>C)
c.900T>C (p.Asn300=)
c.906T>C (p.Asn302=)
c.618T>C (p.Asn206=)
c.*2618T>C (n.*2618T>C)
 dbSNP
3g.15644756T>GCA351607456BTDc.840T>G (p.Asn280Lys)
c.399+2699T>G (n.399+2699T>G)
c.165+2699T>G (n.165+2699T>G)
c.900T>G (p.Asn300Lys)
c.906T>G (p.Asn302Lys)
c.618T>G (p.Asn206Lys)
c.*2618T>G (n.*2618T>G)
3g.15644757G>ACA351607457BTDc.841G>A (p.Val281Ile)
c.399+2700G>A (n.399+2700G>A)
c.165+2700G>A (n.165+2700G>A)
c.901G>A (p.Val301Ile)
c.907G>A (p.Val303Ile)
c.619G>A (p.Val207Ile)
c.*2619G>A (n.*2619G>A)
 dbSNP
3g.15644757G>CCA351607458BTDc.841G>C (p.Val281Leu)
c.399+2700G>C (n.399+2700G>C)
c.165+2700G>C (n.165+2700G>C)
c.901G>C (p.Val301Leu)
c.907G>C (p.Val303Leu)
c.619G>C (p.Val207Leu)
c.*2619G>C (n.*2619G>C)
3g.15644757G>TCA351607459BTDc.841G>T (p.Val281Phe)
c.399+2700G>T (n.399+2700G>T)
c.165+2700G>T (n.165+2700G>T)
c.901G>T (p.Val301Phe)
c.907G>T (p.Val303Phe)
c.619G>T (p.Val207Phe)
c.*2619G>T (n.*2619G>T)
3g.15644758T>ACA351607462BTDc.842T>A (p.Val281Asp)
c.399+2701T>A (n.399+2701T>A)
c.165+2701T>A (n.165+2701T>A)
c.902T>A (p.Val301Asp)
c.908T>A (p.Val303Asp)
c.620T>A (p.Val207Asp)
c.*2620T>A (n.*2620T>A)
3g.15644758T>CCA351607461BTDc.842T>C (p.Val281Ala)
c.399+2701T>C (n.399+2701T>C)
c.165+2701T>C (n.165+2701T>C)
c.902T>C (p.Val301Ala)
c.908T>C (p.Val303Ala)
c.620T>C (p.Val207Ala)
c.*2620T>C (n.*2620T>C)
3g.15644758T>GCA351607460BTDc.842T>G (p.Val281Gly)
c.399+2701T>G (n.399+2701T>G)
c.165+2701T>G (n.165+2701T>G)
c.902T>G (p.Val301Gly)
c.908T>G (p.Val303Gly)
c.620T>G (p.Val207Gly)
c.*2620T>G (n.*2620T>G)
3g.15644759C>ACA432819552BTDc.843C>A (p.Val281=)
c.399+2702C>A (n.399+2702C>A)
c.165+2702C>A (n.165+2702C>A)
c.903C>A (p.Val301=)
c.909C>A (p.Val303=)
c.621C>A (p.Val207=)
c.*2621C>A (n.*2621C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15644759C=CA1347664404BTDc.843C= (p.Val281=)
c.399+2702C= (n.399+2702C=)
c.165+2702C= (n.165+2702C=)
c.903C= (p.Val301=)
c.909C= (p.Val303=)
c.621C= (p.Val207=)
c.*2621C= (n.*2621C=)
3g.15644759C>GCA432819554BTDc.843C>G (p.Val281=)
c.399+2702C>G (n.399+2702C>G)
c.165+2702C>G (n.165+2702C>G)
c.903C>G (p.Val301=)
c.909C>G (p.Val303=)
c.621C>G (p.Val207=)
c.*2621C>G (n.*2621C>G)
3g.15644759C>TCA432819557BTDc.843C>T (p.Val281=)
c.399+2702C>T (n.399+2702C>T)
c.165+2702C>T (n.165+2702C>T)
c.903C>T (p.Val301=)
c.909C>T (p.Val303=)
c.621C>T (p.Val207=)
c.*2621C>T (n.*2621C>T)
3g.15644760C>ACA351607463BTDc.844C>A (p.His282Asn)
c.399+2703C>A (n.399+2703C>A)
c.165+2703C>A (n.165+2703C>A)
c.904C>A (p.His302Asn)
c.910C>A (p.His304Asn)
c.622C>A (p.His208Asn)
c.*2622C>A (n.*2622C>A)
 gnomAD v4
3g.15644760C=CA1347664414BTDc.844C= (p.His282=)
c.399+2703C= (n.399+2703C=)
c.165+2703C= (n.165+2703C=)
c.904C= (p.His302=)
c.910C= (p.His304=)
c.622C= (p.His208=)
c.*2622C= (n.*2622C=)
3g.15644760C>GCA351607464BTDc.844C>G (p.His282Asp)
c.399+2703C>G (n.399+2703C>G)
c.165+2703C>G (n.165+2703C>G)
c.904C>G (p.His302Asp)
c.910C>G (p.His304Asp)
c.622C>G (p.His208Asp)
c.*2622C>G (n.*2622C>G)
3g.15644760C>TCA220337BTDc.844C>T (p.His282Tyr)
c.399+2703C>T (n.399+2703C>T)
c.165+2703C>T (n.165+2703C>T)
c.904C>T (p.His302Tyr)
c.910C>T (p.His304Tyr)
c.622C>T (p.His208Tyr)
c.*2622C>T (n.*2622C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15644761A>CCA351607465BTDc.845A>C (p.His282Pro)
c.399+2704A>C (n.399+2704A>C)
c.165+2704A>C (n.165+2704A>C)
c.905A>C (p.His302Pro)
c.911A>C (p.His304Pro)
c.623A>C (p.His208Pro)
c.*2623A>C (n.*2623A>C)
3g.15644761A>GCA351607466BTDc.845A>G (p.His282Arg)
c.399+2704A>G (n.399+2704A>G)
c.165+2704A>G (n.165+2704A>G)
c.905A>G (p.His302Arg)
c.911A>G (p.His304Arg)
c.623A>G (p.His208Arg)
c.*2623A>G (n.*2623A>G)
3g.15644761A>TCA351607467BTDc.845A>T (p.His282Leu)
c.399+2704A>T (n.399+2704A>T)
c.165+2704A>T (n.165+2704A>T)
c.905A>T (p.His302Leu)
c.911A>T (p.His304Leu)
c.623A>T (p.His208Leu)
c.*2623A>T (n.*2623A>T)
3g.15644762C>ACA351607468BTDc.846C>A (p.His282Gln)
c.399+2705C>A (n.399+2705C>A)
c.165+2705C>A (n.165+2705C>A)
c.906C>A (p.His302Gln)
c.912C>A (p.His304Gln)
c.624C>A (p.His208Gln)
c.*2624C>A (n.*2624C>A)
 gnomAD v4
3g.15644762C>GCA351607469BTDc.846C>G (p.His282Gln)
c.399+2705C>G (n.399+2705C>G)
c.165+2705C>G (n.165+2705C>G)
c.906C>G (p.His302Gln)
c.912C>G (p.His304Gln)
c.624C>G (p.His208Gln)
c.*2624C>G (n.*2624C>G)
 ClinVar dbSNP
3g.15644762C>TCA432819564BTDc.846C>T (p.His282=)
c.399+2705C>T (n.399+2705C>T)
c.165+2705C>T (n.165+2705C>T)
c.906C>T (p.His302=)
c.912C>T (p.His304=)
c.624C>T (p.His208=)
c.*2624C>T (n.*2624C>T)
 ClinVar
3g.15644763C>ACA351607470BTDc.847C>A (p.His283Asn)
c.399+2706C>A (n.399+2706C>A)
c.165+2706C>A (n.165+2706C>A)
c.907C>A (p.His303Asn)
c.913C>A (p.His305Asn)
c.625C>A (p.His209Asn)
c.*2625C>A (n.*2625C>A)
3g.15644763C=CA1347664423BTDc.847C= (p.His283=)
c.399+2706C= (n.399+2706C=)
c.165+2706C= (n.165+2706C=)
c.907C= (p.His303=)
c.913C= (p.His305=)
c.625C= (p.His209=)
c.*2625C= (n.*2625C=)
3g.15644763C>GCA351607471BTDc.847C>G (p.His283Asp)
c.399+2706C>G (n.399+2706C>G)
c.165+2706C>G (n.165+2706C>G)
c.907C>G (p.His303Asp)
c.913C>G (p.His305Asp)
c.625C>G (p.His209Asp)
c.*2625C>G (n.*2625C>G)
3g.15644763C>TCA2277394BTDc.847C>T (p.His283Tyr)
c.399+2706C>T (n.399+2706C>T)
c.165+2706C>T (n.165+2706C>T)
c.907C>T (p.His303Tyr)
c.913C>T (p.His305Tyr)
c.625C>T (p.His209Tyr)
c.*2625C>T (n.*2625C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644764A>CCA351607474BTDc.848A>C (p.His283Pro)
c.399+2707A>C (n.399+2707A>C)
c.165+2707A>C (n.165+2707A>C)
c.908A>C (p.His303Pro)
c.914A>C (p.His305Pro)
c.626A>C (p.His209Pro)
c.*2626A>C (n.*2626A>C)
3g.15644764A>GCA351607473BTDc.848A>G (p.His283Arg)
c.399+2707A>G (n.399+2707A>G)
c.165+2707A>G (n.165+2707A>G)
c.908A>G (p.His303Arg)
c.914A>G (p.His305Arg)
c.626A>G (p.His209Arg)
c.*2626A>G (n.*2626A>G)
3g.15644764A>TCA351607472BTDc.848A>T (p.His283Leu)
c.399+2707A>T (n.399+2707A>T)
c.165+2707A>T (n.165+2707A>T)
c.908A>T (p.His303Leu)
c.914A>T (p.His305Leu)
c.626A>T (p.His209Leu)
c.*2626A>T (n.*2626A>T)
3g.15644765C>ACA351607475BTDc.849C>A (p.His283Gln)
c.399+2708C>A (n.399+2708C>A)
c.165+2708C>A (n.165+2708C>A)
c.909C>A (p.His303Gln)
c.915C>A (p.His305Gln)
c.627C>A (p.His209Gln)
c.*2627C>A (n.*2627C>A)
3g.15644765C>GCA351607476BTDc.849C>G (p.His283Gln)
c.399+2708C>G (n.399+2708C>G)
c.165+2708C>G (n.165+2708C>G)
c.909C>G (p.His303Gln)
c.915C>G (p.His305Gln)
c.627C>G (p.His209Gln)
c.*2627C>G (n.*2627C>G)
3g.15644765C>TCA432819568BTDc.849C>T (p.His283=)
c.399+2708C>T (n.399+2708C>T)
c.165+2708C>T (n.165+2708C>T)
c.909C>T (p.His303=)
c.915C>T (p.His305=)
c.627C>T (p.His209=)
c.*2627C>T (n.*2627C>T)
3g.15644766C>ACA351607477BTDc.850C>A (p.Pro284Thr)
c.399+2709C>A (n.399+2709C>A)
c.165+2709C>A (n.165+2709C>A)
c.910C>A (p.Pro304Thr)
c.916C>A (p.Pro306Thr)
c.628C>A (p.Pro210Thr)
c.*2628C>A (n.*2628C>A)
3g.15644766C>GCA351607478BTDc.850C>G (p.Pro284Ala)
c.399+2709C>G (n.399+2709C>G)
c.165+2709C>G (n.165+2709C>G)
c.910C>G (p.Pro304Ala)
c.916C>G (p.Pro306Ala)
c.628C>G (p.Pro210Ala)
c.*2628C>G (n.*2628C>G)
3g.15644766C>TCA351607479BTDc.850C>T (p.Pro284Ser)
c.399+2709C>T (n.399+2709C>T)
c.165+2709C>T (n.165+2709C>T)
c.910C>T (p.Pro304Ser)
c.916C>T (p.Pro306Ser)
c.628C>T (p.Pro210Ser)
c.*2628C>T (n.*2628C>T)
3g.15644767C>ACA351607480BTDc.851C>A (p.Pro284Gln)
c.399+2710C>A (n.399+2710C>A)
c.165+2710C>A (n.165+2710C>A)
c.911C>A (p.Pro304Gln)
c.917C>A (p.Pro306Gln)
c.629C>A (p.Pro210Gln)
c.*2629C>A (n.*2629C>A)
3g.15644767C>GCA351607481BTDc.851C>G (p.Pro284Arg)
c.399+2710C>G (n.399+2710C>G)
c.165+2710C>G (n.165+2710C>G)
c.911C>G (p.Pro304Arg)
c.917C>G (p.Pro306Arg)
c.629C>G (p.Pro210Arg)
c.*2629C>G (n.*2629C>G)
3g.15644767C>TCA351607482BTDc.851C>T (p.Pro284Leu)
c.399+2710C>T (n.399+2710C>T)
c.165+2710C>T (n.165+2710C>T)
c.911C>T (p.Pro304Leu)
c.917C>T (p.Pro306Leu)
c.629C>T (p.Pro210Leu)
c.*2629C>T (n.*2629C>T)
 gnomAD v4
3g.15644768A=CA1347664430BTDc.852A= (p.Pro284=)
c.399+2711A= (n.399+2711A=)
c.165+2711A= (n.165+2711A=)
c.912A= (p.Pro304=)
c.918A= (p.Pro306=)
c.630A= (p.Pro210=)
c.*2630A= (n.*2630A=)
3g.15644768A>CCA432819574BTDc.852A>C (p.Pro284=)
c.399+2711A>C (n.399+2711A>C)
c.165+2711A>C (n.165+2711A>C)
c.912A>C (p.Pro304=)
c.918A>C (p.Pro306=)
c.630A>C (p.Pro210=)
c.*2630A>C (n.*2630A>C)
 gnomAD v4
3g.15644768A>GCA2277395BTDc.852A>G (p.Pro284=)
c.399+2711A>G (n.399+2711A>G)
c.165+2711A>G (n.165+2711A>G)
c.912A>G (p.Pro304=)
c.918A>G (p.Pro306=)
c.630A>G (p.Pro210=)
c.*2630A>G (n.*2630A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644768A>TCA432819576BTDc.852A>T (p.Pro284=)
c.399+2711A>T (n.399+2711A>T)
c.165+2711A>T (n.165+2711A>T)
c.912A>T (p.Pro304=)
c.918A>T (p.Pro306=)
c.630A>T (p.Pro210=)
c.*2630A>T (n.*2630A>T)
3g.15644769G>ACA351607483BTDc.853G>A (p.Val285Ile)
c.399+2712G>A (n.399+2712G>A)
c.165+2712G>A (n.165+2712G>A)
c.913G>A (p.Val305Ile)
c.919G>A (p.Val307Ile)
c.631G>A (p.Val211Ile)
c.*2631G>A (n.*2631G>A)
3g.15644769G>CCA70622298BTDc.853G>C (p.Val285Leu)
c.399+2712G>C (n.399+2712G>C)
c.165+2712G>C (n.165+2712G>C)
c.913G>C (p.Val305Leu)
c.919G>C (p.Val307Leu)
c.631G>C (p.Val211Leu)
c.*2631G>C (n.*2631G>C)
 dbSNP
3g.15644769G=CA1347664432BTDc.853G= (p.Val285=)
c.399+2712G= (n.399+2712G=)
c.165+2712G= (n.165+2712G=)
c.913G= (p.Val305=)
c.919G= (p.Val307=)
c.631G= (p.Val211=)
c.*2631G= (n.*2631G=)
3g.15644769G>TCA351607484BTDc.853G>T (p.Val285Phe)
c.399+2712G>T (n.399+2712G>T)
c.165+2712G>T (n.165+2712G>T)
c.913G>T (p.Val305Phe)
c.919G>T (p.Val307Phe)
c.631G>T (p.Val211Phe)
c.*2631G>T (n.*2631G>T)
3g.15644770T>ACA351607487BTDc.854T>A (p.Val285Asp)
c.399+2713T>A (n.399+2713T>A)
c.165+2713T>A (n.165+2713T>A)
c.914T>A (p.Val305Asp)
c.920T>A (p.Val307Asp)
c.632T>A (p.Val211Asp)
c.*2632T>A (n.*2632T>A)
3g.15644770T>CCA351607486BTDc.854T>C (p.Val285Ala)
c.399+2713T>C (n.399+2713T>C)
c.165+2713T>C (n.165+2713T>C)
c.914T>C (p.Val305Ala)
c.920T>C (p.Val307Ala)
c.632T>C (p.Val211Ala)
c.*2632T>C (n.*2632T>C)
3g.15644770T>GCA351607485BTDc.854T>G (p.Val285Gly)
c.399+2713T>G (n.399+2713T>G)
c.165+2713T>G (n.165+2713T>G)
c.914T>G (p.Val305Gly)
c.920T>G (p.Val307Gly)
c.632T>G (p.Val211Gly)
c.*2632T>G (n.*2632T>G)
3g.15644771T>ACA432819581BTDc.855T>A (p.Val285=)
c.399+2714T>A (n.399+2714T>A)
c.165+2714T>A (n.165+2714T>A)
c.915T>A (p.Val305=)
c.921T>A (p.Val307=)
c.633T>A (p.Val211=)
c.*2633T>A (n.*2633T>A)
3g.15644771T>CCA432819582BTDc.855T>C (p.Val285=)
c.399+2714T>C (n.399+2714T>C)
c.165+2714T>C (n.165+2714T>C)
c.915T>C (p.Val305=)
c.921T>C (p.Val307=)
c.633T>C (p.Val211=)
c.*2633T>C (n.*2633T>C)
3g.15644771T>GCA432819583BTDc.855T>G (p.Val285=)
c.399+2714T>G (n.399+2714T>G)
c.165+2714T>G (n.165+2714T>G)
c.915T>G (p.Val305=)
c.921T>G (p.Val307=)
c.633T>G (p.Val211=)
c.*2633T>G (n.*2633T>G)
 ClinVar dbSNP gnomAD v4
3g.15644772C>ACA351607488BTDc.856C>A (p.Leu286Met)
c.399+2715C>A (n.399+2715C>A)
c.165+2715C>A (n.165+2715C>A)
c.916C>A (p.Leu306Met)
c.922C>A (p.Leu308Met)
c.634C>A (p.Leu212Met)
c.*2634C>A (n.*2634C>A)
 gnomAD v4
3g.15644772C>GCA351607489BTDc.856C>G (p.Leu286Val)
c.399+2715C>G (n.399+2715C>G)
c.165+2715C>G (n.165+2715C>G)
c.916C>G (p.Leu306Val)
c.922C>G (p.Leu308Val)
c.634C>G (p.Leu212Val)
c.*2634C>G (n.*2634C>G)
3g.15644772C>TCA432819584BTDc.856C>T (p.Leu286=)
c.399+2715C>T (n.399+2715C>T)
c.165+2715C>T (n.165+2715C>T)
c.916C>T (p.Leu306=)
c.922C>T (p.Leu308=)
c.634C>T (p.Leu212=)
c.*2634C>T (n.*2634C>T)
3g.15644773T>ACA351607490BTDc.857T>A (p.Leu286Gln)
c.399+2716T>A (n.399+2716T>A)
c.165+2716T>A (n.165+2716T>A)
c.917T>A (p.Leu306Gln)
c.923T>A (p.Leu308Gln)
c.635T>A (p.Leu212Gln)
c.*2635T>A (n.*2635T>A)
 gnomAD v4
3g.15644773T>CCA351607491BTDc.857T>C (p.Leu286Pro)
c.399+2716T>C (n.399+2716T>C)
c.165+2716T>C (n.165+2716T>C)
c.917T>C (p.Leu306Pro)
c.923T>C (p.Leu308Pro)
c.635T>C (p.Leu212Pro)
c.*2635T>C (n.*2635T>C)
3g.15644773T>GCA351607492BTDc.857T>G (p.Leu286Arg)
c.399+2716T>G (n.399+2716T>G)
c.165+2716T>G (n.165+2716T>G)
c.917T>G (p.Leu306Arg)
c.923T>G (p.Leu308Arg)
c.635T>G (p.Leu212Arg)
c.*2635T>G (n.*2635T>G)
3g.15644774G>ACA2277396BTDc.858G>A (p.Leu286=)
c.399+2717G>A (n.399+2717G>A)
c.165+2717G>A (n.165+2717G>A)
c.918G>A (p.Leu306=)
c.924G>A (p.Leu308=)
c.636G>A (p.Leu212=)
c.*2636G>A (n.*2636G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644774G>CCA432819589BTDc.858G>C (p.Leu286=)
c.399+2717G>C (n.399+2717G>C)
c.165+2717G>C (n.165+2717G>C)
c.918G>C (p.Leu306=)
c.924G>C (p.Leu308=)
c.636G>C (p.Leu212=)
c.*2636G>C (n.*2636G>C)
3g.15644774G=CA1347664435BTDc.858G= (p.Leu286=)
c.399+2717G= (n.399+2717G=)
c.165+2717G= (n.165+2717G=)
c.918G= (p.Leu306=)
c.924G= (p.Leu308=)
c.636G= (p.Leu212=)
c.*2636G= (n.*2636G=)
3g.15644774G>TCA432819588BTDc.858G>T (p.Leu286=)
c.399+2717G>T (n.399+2717G>T)
c.165+2717G>T (n.165+2717G>T)
c.918G>T (p.Leu306=)
c.924G>T (p.Leu308=)
c.636G>T (p.Leu212=)
c.*2636G>T (n.*2636G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15644775G>ACA351607493BTDc.859G>A (p.Gly287Arg)
c.399+2718G>A (n.399+2718G>A)
c.165+2718G>A (n.165+2718G>A)
c.919G>A (p.Gly307Arg)
c.925G>A (p.Gly309Arg)
c.637G>A (p.Gly213Arg)
c.*2637G>A (n.*2637G>A)
 gnomAD v4
3g.15644775G>CCA351607494BTDc.859G>C (p.Gly287Arg)
c.399+2718G>C (n.399+2718G>C)
c.165+2718G>C (n.165+2718G>C)
c.919G>C (p.Gly307Arg)
c.925G>C (p.Gly309Arg)
c.637G>C (p.Gly213Arg)
c.*2637G>C (n.*2637G>C)
3g.15644775G>TCA351607495BTDc.859G>T (p.Gly287Trp)
c.399+2718G>T (n.399+2718G>T)
c.165+2718G>T (n.165+2718G>T)
c.919G>T (p.Gly307Trp)
c.925G>T (p.Gly309Trp)
c.637G>T (p.Gly213Trp)
c.*2637G>T (n.*2637G>T)
3g.15644776G>ACA351607496BTDc.860G>A (p.Gly287Glu)
c.399+2719G>A (n.399+2719G>A)
c.165+2719G>A (n.165+2719G>A)
c.920G>A (p.Gly307Glu)
c.926G>A (p.Gly309Glu)
c.638G>A (p.Gly213Glu)
c.*2638G>A (n.*2638G>A)
 gnomAD v4
3g.15644776G>CCA351607497BTDc.860G>C (p.Gly287Ala)
c.399+2719G>C (n.399+2719G>C)
c.165+2719G>C (n.165+2719G>C)
c.920G>C (p.Gly307Ala)
c.926G>C (p.Gly309Ala)
c.638G>C (p.Gly213Ala)
c.*2638G>C (n.*2638G>C)
3g.15644776G>TCA351607498BTDc.860G>T (p.Gly287Val)
c.399+2719G>T (n.399+2719G>T)
c.165+2719G>T (n.165+2719G>T)
c.920G>T (p.Gly307Val)
c.926G>T (p.Gly309Val)
c.638G>T (p.Gly213Val)
c.*2638G>T (n.*2638G>T)
3g.15644777G>ACA432819597BTDc.861G>A (p.Gly287=)
c.399+2720G>A (n.399+2720G>A)
c.165+2720G>A (n.165+2720G>A)
c.921G>A (p.Gly307=)
c.927G>A (p.Gly309=)
c.639G>A (p.Gly213=)
c.*2639G>A (n.*2639G>A)
 gnomAD v4
3g.15644777G>CCA432819598BTDc.861G>C (p.Gly287=)
c.399+2720G>C (n.399+2720G>C)
c.165+2720G>C (n.165+2720G>C)
c.921G>C (p.Gly307=)
c.927G>C (p.Gly309=)
c.639G>C (p.Gly213=)
c.*2639G>C (n.*2639G>C)
3g.15644777G=CA1347664437BTDc.861G= (p.Gly287=)
c.399+2720G= (n.399+2720G=)
c.165+2720G= (n.165+2720G=)
c.921G= (p.Gly307=)
c.927G= (p.Gly309=)
c.639G= (p.Gly213=)
c.*2639G= (n.*2639G=)
3g.15644777G>TCA432819599BTDc.861G>T (p.Gly287=)
c.399+2720G>T (n.399+2720G>T)
c.165+2720G>T (n.165+2720G>T)
c.921G>T (p.Gly307=)
c.927G>T (p.Gly309=)
c.639G>T (p.Gly213=)
c.*2639G>T (n.*2639G>T)
 dbSNP
3g.15644778A=CA1347664443BTDc.862A= (p.Met288=)
c.399+2721A= (n.399+2721A=)
c.165+2721A= (n.165+2721A=)
c.922A= (p.Met308=)
c.928A= (p.Met310=)
c.640A= (p.Met214=)
c.*2640A= (n.*2640A=)
3g.15644778A>CCA2277398BTDc.862A>C (p.Met288Leu)
c.399+2721A>C (n.399+2721A>C)
c.165+2721A>C (n.165+2721A>C)
c.922A>C (p.Met308Leu)
c.928A>C (p.Met310Leu)
c.640A>C (p.Met214Leu)
c.*2640A>C (n.*2640A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644778A>GCA2277397BTDc.862A>G (p.Met288Val)
c.399+2721A>G (n.399+2721A>G)
c.165+2721A>G (n.165+2721A>G)
c.922A>G (p.Met308Val)
c.928A>G (p.Met310Val)
c.640A>G (p.Met214Val)
c.*2640A>G (n.*2640A>G)
 dbSNP ExAC gnomAD v2
3g.15644778A>TCA351607499BTDc.862A>T (p.Met288Leu)
c.399+2721A>T (n.399+2721A>T)
c.165+2721A>T (n.165+2721A>T)
c.922A>T (p.Met308Leu)
c.928A>T (p.Met310Leu)
c.640A>T (p.Met214Leu)
c.*2640A>T (n.*2640A>T)
3g.15644779T>ACA351607500BTDc.863T>A (p.Met288Lys)
c.399+2722T>A (n.399+2722T>A)
c.165+2722T>A (n.165+2722T>A)
c.923T>A (p.Met308Lys)
c.929T>A (p.Met310Lys)
c.641T>A (p.Met214Lys)
c.*2641T>A (n.*2641T>A)
3g.15644779T>CCA351607501BTDc.863T>C (p.Met288Thr)
c.399+2722T>C (n.399+2722T>C)
c.165+2722T>C (n.165+2722T>C)
c.923T>C (p.Met308Thr)
c.929T>C (p.Met310Thr)
c.641T>C (p.Met214Thr)
c.*2641T>C (n.*2641T>C)
3g.15644779T>GCA351607502BTDc.863T>G (p.Met288Arg)
c.399+2722T>G (n.399+2722T>G)
c.165+2722T>G (n.165+2722T>G)
c.923T>G (p.Met308Arg)
c.929T>G (p.Met310Arg)
c.641T>G (p.Met214Arg)
c.*2641T>G (n.*2641T>G)
3g.15644780G>ACA351607503BTDc.864G>A (p.Met288Ile)
c.399+2723G>A (n.399+2723G>A)
c.165+2723G>A (n.165+2723G>A)
c.924G>A (p.Met308Ile)
c.930G>A (p.Met310Ile)
c.642G>A (p.Met214Ile)
c.*2642G>A (n.*2642G>A)
 gnomAD v4
3g.15644780G>CCA351607504BTDc.864G>C (p.Met288Ile)
c.399+2723G>C (n.399+2723G>C)
c.165+2723G>C (n.165+2723G>C)
c.924G>C (p.Met308Ile)
c.930G>C (p.Met310Ile)
c.642G>C (p.Met214Ile)
c.*2642G>C (n.*2642G>C)
3g.15644780G>TCA351607505BTDc.864G>T (p.Met288Ile)
c.399+2723G>T (n.399+2723G>T)
c.165+2723G>T (n.165+2723G>T)
c.924G>T (p.Met308Ile)
c.930G>T (p.Met310Ile)
c.642G>T (p.Met214Ile)
c.*2642G>T (n.*2642G>T)
3g.15644781A>CCA351607508BTDc.865A>C (p.Thr289Pro)
c.399+2724A>C (n.399+2724A>C)
c.165+2724A>C (n.165+2724A>C)
c.925A>C (p.Thr309Pro)
c.931A>C (p.Thr311Pro)
c.643A>C (p.Thr215Pro)
c.*2643A>C (n.*2643A>C)
3g.15644781A>GCA351607507BTDc.865A>G (p.Thr289Ala)
c.399+2724A>G (n.399+2724A>G)
c.165+2724A>G (n.165+2724A>G)
c.925A>G (p.Thr309Ala)
c.931A>G (p.Thr311Ala)
c.643A>G (p.Thr215Ala)
c.*2643A>G (n.*2643A>G)
3g.15644781A>TCA351607506BTDc.865A>T (p.Thr289Ser)
c.399+2724A>T (n.399+2724A>T)
c.165+2724A>T (n.165+2724A>T)
c.925A>T (p.Thr309Ser)
c.931A>T (p.Thr311Ser)
c.643A>T (p.Thr215Ser)
c.*2643A>T (n.*2643A>T)
3g.15644782C>ACA351607509BTDc.866C>A (p.Thr289Lys)
c.399+2725C>A (n.399+2725C>A)
c.165+2725C>A (n.165+2725C>A)
c.926C>A (p.Thr309Lys)
c.932C>A (p.Thr311Lys)
c.644C>A (p.Thr215Lys)
c.*2644C>A (n.*2644C>A)
3g.15644782C>GCA351607510BTDc.866C>G (p.Thr289Arg)
c.399+2725C>G (n.399+2725C>G)
c.165+2725C>G (n.165+2725C>G)
c.926C>G (p.Thr309Arg)
c.932C>G (p.Thr311Arg)
c.644C>G (p.Thr215Arg)
c.*2644C>G (n.*2644C>G)
3g.15644782C>TCA351607511BTDc.866C>T (p.Thr289Ile)
c.399+2725C>T (n.399+2725C>T)
c.165+2725C>T (n.165+2725C>T)
c.926C>T (p.Thr309Ile)
c.932C>T (p.Thr311Ile)
c.644C>T (p.Thr215Ile)
c.*2644C>T (n.*2644C>T)
3g.15644783A=CA1347664449BTDc.867A= (p.Thr289=)
c.399+2726A= (n.399+2726A=)
c.165+2726A= (n.165+2726A=)
c.927A= (p.Thr309=)
c.933A= (p.Thr311=)
c.645A= (p.Thr215=)
c.*2645A= (n.*2645A=)
3g.15644783A>CCA432819604BTDc.867A>C (p.Thr289=)
c.399+2726A>C (n.399+2726A>C)
c.165+2726A>C (n.165+2726A>C)
c.927A>C (p.Thr309=)
c.933A>C (p.Thr311=)
c.645A>C (p.Thr215=)
c.*2645A>C (n.*2645A>C)
3g.15644783A>GCA70622307BTDc.867A>G (p.Thr289=)
c.399+2726A>G (n.399+2726A>G)
c.165+2726A>G (n.165+2726A>G)
c.927A>G (p.Thr309=)
c.933A>G (p.Thr311=)
c.645A>G (p.Thr215=)
c.*2645A>G (n.*2645A>G)
 ClinVar dbSNP gnomAD v4
3g.15644783A>TCA432819605BTDc.867A>T (p.Thr289=)
c.399+2726A>T (n.399+2726A>T)
c.165+2726A>T (n.165+2726A>T)
c.927A>T (p.Thr309=)
c.933A>T (p.Thr311=)
c.645A>T (p.Thr215=)
c.*2645A>T (n.*2645A>T)
3g.15644784G>ACA351607512BTDc.868G>A (p.Gly290Arg)
c.399+2727G>A (n.399+2727G>A)
c.165+2727G>A (n.165+2727G>A)
c.928G>A (p.Gly310Arg)
c.934G>A (p.Gly312Arg)
c.646G>A (p.Gly216Arg)
c.*2646G>A (n.*2646G>A)
3g.15644784G>CCA351607513BTDc.868G>C (p.Gly290Arg)
c.399+2727G>C (n.399+2727G>C)
c.165+2727G>C (n.165+2727G>C)
c.928G>C (p.Gly310Arg)
c.934G>C (p.Gly312Arg)
c.646G>C (p.Gly216Arg)
c.*2646G>C (n.*2646G>C)
3g.15644784G>TCA351607514BTDc.868G>T (p.Gly290Ter)
c.399+2727G>T (n.399+2727G>T)
c.165+2727G>T (n.165+2727G>T)
c.928G>T (p.Gly310Ter)
c.934G>T (p.Gly312Ter)
c.646G>T (p.Gly216Ter)
c.*2646G>T (n.*2646G>T)
3g.15644785G>ACA278276BTDc.869G>A (p.Gly290Glu)
c.399+2728G>A (n.399+2728G>A)
c.165+2728G>A (n.165+2728G>A)
c.929G>A (p.Gly310Glu)
c.935G>A (p.Gly312Glu)
c.647G>A (p.Gly216Glu)
c.*2647G>A (n.*2647G>A)
 ClinVar dbSNP
3g.15644785G>CCA351607516BTDc.869G>C (p.Gly290Ala)
c.399+2728G>C (n.399+2728G>C)
c.165+2728G>C (n.165+2728G>C)
c.929G>C (p.Gly310Ala)
c.935G>C (p.Gly312Ala)
c.647G>C (p.Gly216Ala)
c.*2647G>C (n.*2647G>C)
3g.15644785G=CA1347664455BTDc.869G= (p.Gly290=)
c.399+2728G= (n.399+2728G=)
c.165+2728G= (n.165+2728G=)
c.929G= (p.Gly310=)
c.935G= (p.Gly312=)
c.647G= (p.Gly216=)
c.*2647G= (n.*2647G=)
3g.15644785G>TCA351607515BTDc.869G>T (p.Gly290Val)
c.399+2728G>T (n.399+2728G>T)
c.165+2728G>T (n.165+2728G>T)
c.929G>T (p.Gly310Val)
c.935G>T (p.Gly312Val)
c.647G>T (p.Gly216Val)
c.*2647G>T (n.*2647G>T)
3g.15644786A>CCA432819610BTDc.870A>C (p.Gly290=)
c.399+2729A>C (n.399+2729A>C)
c.165+2729A>C (n.165+2729A>C)
c.930A>C (p.Gly310=)
c.936A>C (p.Gly312=)
c.648A>C (p.Gly216=)
c.*2648A>C (n.*2648A>C)
3g.15644786A>GCA432819609BTDc.870A>G (p.Gly290=)
c.399+2729A>G (n.399+2729A>G)
c.165+2729A>G (n.165+2729A>G)
c.930A>G (p.Gly310=)
c.936A>G (p.Gly312=)
c.648A>G (p.Gly216=)
c.*2648A>G (n.*2648A>G)
3g.15644786A>TCA432819608BTDc.870A>T (p.Gly290=)
c.399+2729A>T (n.399+2729A>T)
c.165+2729A>T (n.165+2729A>T)
c.930A>T (p.Gly310=)
c.936A>T (p.Gly312=)
c.648A>T (p.Gly216=)
c.*2648A>T (n.*2648A>T)
 ClinVar gnomAD v4
3g.15644787A>CCA351607517BTDc.871A>C (p.Ser291Arg)
c.399+2730A>C (n.399+2730A>C)
c.165+2730A>C (n.165+2730A>C)
c.931A>C (p.Ser311Arg)
c.937A>C (p.Ser313Arg)
c.649A>C (p.Ser217Arg)
c.*2649A>C (n.*2649A>C)
3g.15644787A>GCA351607518BTDc.871A>G (p.Ser291Gly)
c.399+2730A>G (n.399+2730A>G)
c.165+2730A>G (n.165+2730A>G)
c.931A>G (p.Ser311Gly)
c.937A>G (p.Ser313Gly)
c.649A>G (p.Ser217Gly)
c.*2649A>G (n.*2649A>G)
3g.15644787A>TCA351607519BTDc.871A>T (p.Ser291Cys)
c.399+2730A>T (n.399+2730A>T)
c.165+2730A>T (n.165+2730A>T)
c.931A>T (p.Ser311Cys)
c.937A>T (p.Ser313Cys)
c.649A>T (p.Ser217Cys)
c.*2649A>T (n.*2649A>T)
3g.15644788G>ACA278278BTDc.872G>A (p.Ser291Asn)
c.399+2731G>A (n.399+2731G>A)
c.165+2731G>A (n.165+2731G>A)
c.932G>A (p.Ser311Asn)
c.938G>A (p.Ser313Asn)
c.650G>A (p.Ser217Asn)
c.*2650G>A (n.*2650G>A)
 dbSNP
3g.15644788G>CCA351607520BTDc.872G>C (p.Ser291Thr)
c.399+2731G>C (n.399+2731G>C)
c.165+2731G>C (n.165+2731G>C)
c.932G>C (p.Ser311Thr)
c.938G>C (p.Ser313Thr)
c.650G>C (p.Ser217Thr)
c.*2650G>C (n.*2650G>C)
 gnomAD v4
3g.15644788G=CA1347664461BTDc.872G= (p.Ser291=)
c.399+2731G= (n.399+2731G=)
c.165+2731G= (n.165+2731G=)
c.932G= (p.Ser311=)
c.938G= (p.Ser313=)
c.650G= (p.Ser217=)
c.*2650G= (n.*2650G=)
3g.15644788G>TCA351607521BTDc.872G>T (p.Ser291Ile)
c.399+2731G>T (n.399+2731G>T)
c.165+2731G>T (n.165+2731G>T)
c.932G>T (p.Ser311Ile)
c.938G>T (p.Ser313Ile)
c.650G>T (p.Ser217Ile)
c.*2650G>T (n.*2650G>T)
3g.15644788_15644789delinsGTCA1347664464BTDc.872_873delinsGT (p.Ser291=)
c.399+2731_399+2732delinsGT (n.399+2731_399+2732delinsGT)
c.165+2731_165+2732delinsGT (n.165+2731_165+2732delinsGT)
c.932_933delinsGT (p.Ser311=)
c.938_939delinsGT (p.Ser313=)
c.650_651delinsGT (p.Ser217=)
c.*2650_*2651delinsGT (n.*2650_*2651delinsGT)
3g.15644789delCA278280BTDc.873del (p.Ser291ArgfsTer23)
c.399+2732del (n.399+2732del)
c.165+2732del (n.165+2732del)
c.933del (p.Ser311ArgfsTer23)
c.939del (p.Ser313ArgfsTer23)
c.651del (p.Ser217ArgfsTer23)
c.*2651del (n.*2651del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15644789T>ACA351607522BTDc.873T>A (p.Ser291Arg)
c.399+2732T>A (n.399+2732T>A)
c.165+2732T>A (n.165+2732T>A)
c.933T>A (p.Ser311Arg)
c.939T>A (p.Ser313Arg)
c.651T>A (p.Ser217Arg)
c.*2651T>A (n.*2651T>A)
3g.15644789T>CCA432819618BTDc.873T>C (p.Ser291=)
c.399+2732T>C (n.399+2732T>C)
c.165+2732T>C (n.165+2732T>C)
c.933T>C (p.Ser311=)
c.939T>C (p.Ser313=)
c.651T>C (p.Ser217=)
c.*2651T>C (n.*2651T>C)
3g.15644789T>GCA278281BTDc.873T>G (p.Ser291Arg)
c.399+2732T>G (n.399+2732T>G)
c.165+2732T>G (n.165+2732T>G)
c.933T>G (p.Ser311Arg)
c.939T>G (p.Ser313Arg)
c.651T>G (p.Ser217Arg)
c.*2651T>G (n.*2651T>G)
 dbSNP
3g.15644789T=CA1347664473BTDc.873T= (p.Ser291=)
c.399+2732T= (n.399+2732T=)
c.165+2732T= (n.165+2732T=)
c.933T= (p.Ser311=)
c.939T= (p.Ser313=)
c.651T= (p.Ser217=)
c.*2651T= (n.*2651T=)
3g.15644790G>ACA278283BTDc.874G>A (p.Gly292Ser)
c.399+2733G>A (n.399+2733G>A)
c.165+2733G>A (n.165+2733G>A)
c.934G>A (p.Gly312Ser)
c.940G>A (p.Gly314Ser)
c.652G>A (p.Gly218Ser)
c.*2652G>A (n.*2652G>A)
 ClinVar dbSNP gnomAD v4
3g.15644790G>CCA351607523BTDc.874G>C (p.Gly292Arg)
c.399+2733G>C (n.399+2733G>C)
c.165+2733G>C (n.165+2733G>C)
c.934G>C (p.Gly312Arg)
c.940G>C (p.Gly314Arg)
c.652G>C (p.Gly218Arg)
c.*2652G>C (n.*2652G>C)
3g.15644790G=CA1347664477BTDc.874G= (p.Gly292=)
c.399+2733G= (n.399+2733G=)
c.165+2733G= (n.165+2733G=)
c.934G= (p.Gly312=)
c.940G= (p.Gly314=)
c.652G= (p.Gly218=)
c.*2652G= (n.*2652G=)
3g.15644790G>TCA351607524BTDc.874G>T (p.Gly292Cys)
c.399+2733G>T (n.399+2733G>T)
c.165+2733G>T (n.165+2733G>T)
c.934G>T (p.Gly312Cys)
c.940G>T (p.Gly314Cys)
c.652G>T (p.Gly218Cys)
c.*2652G>T (n.*2652G>T)
3g.15644791G>ACA278285BTDc.875G>A (p.Gly292Asp)
c.399+2734G>A (n.399+2734G>A)
c.165+2734G>A (n.165+2734G>A)
c.935G>A (p.Gly312Asp)
c.941G>A (p.Gly314Asp)
c.653G>A (p.Gly218Asp)
c.*2653G>A (n.*2653G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15644791G>CCA351607525BTDc.875G>C (p.Gly292Ala)
c.399+2734G>C (n.399+2734G>C)
c.165+2734G>C (n.165+2734G>C)
c.935G>C (p.Gly312Ala)
c.941G>C (p.Gly314Ala)
c.653G>C (p.Gly218Ala)
c.*2653G>C (n.*2653G>C)
3g.15644791G=CA1347664482BTDc.875G= (p.Gly292=)
c.399+2734G= (n.399+2734G=)
c.165+2734G= (n.165+2734G=)
c.935G= (p.Gly312=)
c.941G= (p.Gly314=)
c.653G= (p.Gly218=)
c.*2653G= (n.*2653G=)
3g.15644791G>TCA351607526BTDc.875G>T (p.Gly292Val)
c.399+2734G>T (n.399+2734G>T)
c.165+2734G>T (n.165+2734G>T)
c.935G>T (p.Gly312Val)
c.941G>T (p.Gly314Val)
c.653G>T (p.Gly218Val)
c.*2653G>T (n.*2653G>T)
 ClinVar dbSNP gnomAD v4
3g.15644792C>ACA432819625BTDc.876C>A (p.Gly292=)
c.399+2735C>A (n.399+2735C>A)
c.165+2735C>A (n.165+2735C>A)
c.936C>A (p.Gly312=)
c.942C>A (p.Gly314=)
c.654C>A (p.Gly218=)
c.*2654C>A (n.*2654C>A)
 ClinVar
3g.15644792C>GCA432819626BTDc.876C>G (p.Gly292=)
c.399+2735C>G (n.399+2735C>G)
c.165+2735C>G (n.165+2735C>G)
c.936C>G (p.Gly312=)
c.942C>G (p.Gly314=)
c.654C>G (p.Gly218=)
c.*2654C>G (n.*2654C>G)
3g.15644792C>TCA432819627BTDc.876C>T (p.Gly292=)
c.399+2735C>T (n.399+2735C>T)
c.165+2735C>T (n.165+2735C>T)
c.936C>T (p.Gly312=)
c.942C>T (p.Gly314=)
c.654C>T (p.Gly218=)
c.*2654C>T (n.*2654C>T)
3g.15644793A>CCA351607527BTDc.877A>C (p.Ile293Leu)
c.399+2736A>C (n.399+2736A>C)
c.165+2736A>C (n.165+2736A>C)
c.937A>C (p.Ile313Leu)
c.943A>C (p.Ile315Leu)
c.655A>C (p.Ile219Leu)
c.*2655A>C (n.*2655A>C)
3g.15644793A>GCA351607528BTDc.877A>G (p.Ile293Val)
c.399+2736A>G (n.399+2736A>G)
c.165+2736A>G (n.165+2736A>G)
c.937A>G (p.Ile313Val)
c.943A>G (p.Ile315Val)
c.655A>G (p.Ile219Val)
c.*2655A>G (n.*2655A>G)
3g.15644793A>TCA351607529BTDc.877A>T (p.Ile293Leu)
c.399+2736A>T (n.399+2736A>T)
c.165+2736A>T (n.165+2736A>T)
c.937A>T (p.Ile313Leu)
c.943A>T (p.Ile315Leu)
c.655A>T (p.Ile219Leu)
c.*2655A>T (n.*2655A>T)
3g.15644794T>ACA351607530BTDc.878T>A (p.Ile293Lys)
c.399+2737T>A (n.399+2737T>A)
c.165+2737T>A (n.165+2737T>A)
c.938T>A (p.Ile313Lys)
c.944T>A (p.Ile315Lys)
c.656T>A (p.Ile219Lys)
c.*2656T>A (n.*2656T>A)
3g.15644794T>CCA351607531BTDc.878T>C (p.Ile293Thr)
c.399+2737T>C (n.399+2737T>C)
c.165+2737T>C (n.165+2737T>C)
c.938T>C (p.Ile313Thr)
c.944T>C (p.Ile315Thr)
c.656T>C (p.Ile219Thr)
c.*2656T>C (n.*2656T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.15644794T>GCA351607532BTDc.878T>G (p.Ile293Arg)
c.399+2737T>G (n.399+2737T>G)
c.165+2737T>G (n.165+2737T>G)
c.938T>G (p.Ile313Arg)
c.944T>G (p.Ile315Arg)
c.656T>G (p.Ile219Arg)
c.*2656T>G (n.*2656T>G)
3g.15644794T=CA1347664488BTDc.878T= (p.Ile293=)
c.399+2737T= (n.399+2737T=)
c.165+2737T= (n.165+2737T=)
c.938T= (p.Ile313=)
c.944T= (p.Ile315=)
c.656T= (p.Ile219=)
c.*2656T= (n.*2656T=)
3g.15644794dupCA2586971765BTDc.878dup (p.His294ThrfsTer11)
c.399+2737dup (n.399+2737dup)
c.165+2737dup (n.165+2737dup)
c.938dup (p.His314ThrfsTer11)
c.944dup (p.His316ThrfsTer11)
c.656dup (p.His220ThrfsTer11)
c.*2656dup (n.*2656dup)
3g.15644795A>CCA432819631BTDc.879A>C (p.Ile293=)
c.399+2738A>C (n.399+2738A>C)
c.165+2738A>C (n.165+2738A>C)
c.939A>C (p.Ile313=)
c.945A>C (p.Ile315=)
c.657A>C (p.Ile219=)
c.*2657A>C (n.*2657A>C)
3g.15644795A>GCA351607533BTDc.879A>G (p.Ile293Met)
c.399+2738A>G (n.399+2738A>G)
c.165+2738A>G (n.165+2738A>G)
c.939A>G (p.Ile313Met)
c.945A>G (p.Ile315Met)
c.657A>G (p.Ile219Met)
c.*2657A>G (n.*2657A>G)
3g.15644795A>TCA432819630BTDc.879A>T (p.Ile293=)
c.399+2738A>T (n.399+2738A>T)
c.165+2738A>T (n.165+2738A>T)
c.939A>T (p.Ile313=)
c.945A>T (p.Ile315=)
c.657A>T (p.Ile219=)
c.*2657A>T (n.*2657A>T)
3g.15644796C>ACA351607536BTDc.880C>A (p.His294Asn)
c.399+2739C>A (n.399+2739C>A)
c.165+2739C>A (n.165+2739C>A)
c.940C>A (p.His314Asn)
c.946C>A (p.His316Asn)
c.658C>A (p.His220Asn)
c.*2658C>A (n.*2658C>A)
3g.15644796C>GCA351607534BTDc.880C>G (p.His294Asp)
c.399+2739C>G (n.399+2739C>G)
c.165+2739C>G (n.165+2739C>G)
c.940C>G (p.His314Asp)
c.946C>G (p.His316Asp)
c.658C>G (p.His220Asp)
c.*2658C>G (n.*2658C>G)
3g.15644796C>TCA351607535BTDc.880C>T (p.His294Tyr)
c.399+2739C>T (n.399+2739C>T)
c.165+2739C>T (n.165+2739C>T)
c.940C>T (p.His314Tyr)
c.946C>T (p.His316Tyr)
c.658C>T (p.His220Tyr)
c.*2658C>T (n.*2658C>T)
 gnomAD v4
3g.15644797A=CA1347664492BTDc.881A= (p.His294=)
c.399+2740A= (n.399+2740A=)
c.165+2740A= (n.165+2740A=)
c.941A= (p.His314=)
c.947A= (p.His316=)
c.659A= (p.His220=)
c.*2659A= (n.*2659A=)
3g.15644797A>CCA351607537BTDc.881A>C (p.His294Pro)
c.399+2740A>C (n.399+2740A>C)
c.165+2740A>C (n.165+2740A>C)
c.941A>C (p.His314Pro)
c.947A>C (p.His316Pro)
c.659A>C (p.His220Pro)
c.*2659A>C (n.*2659A>C)
3g.15644797A>GCA351607538BTDc.881A>G (p.His294Arg)
c.399+2740A>G (n.399+2740A>G)
c.165+2740A>G (n.165+2740A>G)
c.941A>G (p.His314Arg)
c.947A>G (p.His316Arg)
c.659A>G (p.His220Arg)
c.*2659A>G (n.*2659A>G)
 ClinVar dbSNP
3g.15644797A>TCA351607539BTDc.881A>T (p.His294Leu)
c.399+2740A>T (n.399+2740A>T)
c.165+2740A>T (n.165+2740A>T)
c.941A>T (p.His314Leu)
c.947A>T (p.His316Leu)
c.659A>T (p.His220Leu)
c.*2659A>T (n.*2659A>T)
 ClinVar
3g.15644798C>ACA351607540BTDc.882C>A (p.His294Gln)
c.399+2741C>A (n.399+2741C>A)
c.165+2741C>A (n.165+2741C>A)
c.942C>A (p.His314Gln)
c.948C>A (p.His316Gln)
c.660C>A (p.His220Gln)
c.*2660C>A (n.*2660C>A)
3g.15644798C=CA1347664498BTDc.882C= (p.His294=)
c.399+2741C= (n.399+2741C=)
c.165+2741C= (n.165+2741C=)
c.942C= (p.His314=)
c.948C= (p.His316=)
c.660C= (p.His220=)
c.*2660C= (n.*2660C=)
3g.15644798C>GCA351607541BTDc.882C>G (p.His294Gln)
c.399+2741C>G (n.399+2741C>G)
c.165+2741C>G (n.165+2741C>G)
c.942C>G (p.His314Gln)
c.948C>G (p.His316Gln)
c.660C>G (p.His220Gln)
c.*2660C>G (n.*2660C>G)
 dbSNP
3g.15644798C>TCA432819638BTDc.882C>T (p.His294=)
c.399+2741C>T (n.399+2741C>T)
c.165+2741C>T (n.165+2741C>T)
c.942C>T (p.His314=)
c.948C>T (p.His316=)
c.660C>T (p.His220=)
c.*2660C>T (n.*2660C>T)
3g.15644799A>CCA351607542BTDc.883A>C (p.Thr295Pro)
c.399+2742A>C (n.399+2742A>C)
c.165+2742A>C (n.165+2742A>C)
c.943A>C (p.Thr315Pro)
c.949A>C (p.Thr317Pro)
c.661A>C (p.Thr221Pro)
c.*2661A>C (n.*2661A>C)
3g.15644799A>GCA351607544BTDc.883A>G (p.Thr295Ala)
c.399+2742A>G (n.399+2742A>G)
c.165+2742A>G (n.165+2742A>G)
c.943A>G (p.Thr315Ala)
c.949A>G (p.Thr317Ala)
c.661A>G (p.Thr221Ala)
c.*2661A>G (n.*2661A>G)
3g.15644799A>TCA351607543BTDc.883A>T (p.Thr295Ser)
c.399+2742A>T (n.399+2742A>T)
c.165+2742A>T (n.165+2742A>T)
c.943A>T (p.Thr315Ser)
c.949A>T (p.Thr317Ser)
c.661A>T (p.Thr221Ser)
c.*2661A>T (n.*2661A>T)
3g.15644800C>ACA351607545BTDc.884C>A (p.Thr295Asn)
c.399+2743C>A (n.399+2743C>A)
c.165+2743C>A (n.165+2743C>A)
c.944C>A (p.Thr315Asn)
c.950C>A (p.Thr317Asn)
c.662C>A (p.Thr221Asn)
c.*2662C>A (n.*2662C>A)
3g.15644800C>GCA351607546BTDc.884C>G (p.Thr295Ser)
c.399+2743C>G (n.399+2743C>G)
c.165+2743C>G (n.165+2743C>G)
c.944C>G (p.Thr315Ser)
c.950C>G (p.Thr317Ser)
c.662C>G (p.Thr221Ser)
c.*2662C>G (n.*2662C>G)
3g.15644800C>TCA351607547BTDc.884C>T (p.Thr295Ile)
c.399+2743C>T (n.399+2743C>T)
c.165+2743C>T (n.165+2743C>T)
c.944C>T (p.Thr315Ile)
c.950C>T (p.Thr317Ile)
c.662C>T (p.Thr221Ile)
c.*2662C>T (n.*2662C>T)
 gnomAD v4
3g.15644801C>ACA432819641BTDc.885C>A (p.Thr295=)
c.399+2744C>A (n.399+2744C>A)
c.165+2744C>A (n.165+2744C>A)
c.945C>A (p.Thr315=)
c.951C>A (p.Thr317=)
c.663C>A (p.Thr221=)
c.*2663C>A (n.*2663C>A)
3g.15644801C>GCA432819643BTDc.885C>G (p.Thr295=)
c.399+2744C>G (n.399+2744C>G)
c.165+2744C>G (n.165+2744C>G)
c.945C>G (p.Thr315=)
c.951C>G (p.Thr317=)
c.663C>G (p.Thr221=)
c.*2663C>G (n.*2663C>G)
3g.15644801C>TCA432819644BTDc.885C>T (p.Thr295=)
c.399+2744C>T (n.399+2744C>T)
c.165+2744C>T (n.165+2744C>T)
c.945C>T (p.Thr315=)
c.951C>T (p.Thr317=)
c.663C>T (p.Thr221=)
c.*2663C>T (n.*2663C>T)
3g.15644802C>ACA351607548BTDc.886C>A (p.Pro296Thr)
c.399+2745C>A (n.399+2745C>A)
c.165+2745C>A (n.165+2745C>A)
c.946C>A (p.Pro316Thr)
c.952C>A (p.Pro318Thr)
c.664C>A (p.Pro222Thr)
c.*2664C>A (n.*2664C>A)
 ClinVar dbSNP
3g.15644802C=CA1347664500BTDc.886C= (p.Pro296=)
c.399+2745C= (n.399+2745C=)
c.165+2745C= (n.165+2745C=)
c.946C= (p.Pro316=)
c.952C= (p.Pro318=)
c.664C= (p.Pro222=)
c.*2664C= (n.*2664C=)
3g.15644802C>GCA351607549BTDc.886C>G (p.Pro296Ala)
c.399+2745C>G (n.399+2745C>G)
c.165+2745C>G (n.165+2745C>G)
c.946C>G (p.Pro316Ala)
c.952C>G (p.Pro318Ala)
c.664C>G (p.Pro222Ala)
c.*2664C>G (n.*2664C>G)
3g.15644802C>TCA351607550BTDc.886C>T (p.Pro296Ser)
c.399+2745C>T (n.399+2745C>T)
c.165+2745C>T (n.165+2745C>T)
c.946C>T (p.Pro316Ser)
c.952C>T (p.Pro318Ser)
c.664C>T (p.Pro222Ser)
c.*2664C>T (n.*2664C>T)
 gnomAD v4
3g.15644803C>ACA351607551BTDc.887C>A (p.Pro296His)
c.399+2746C>A (n.399+2746C>A)
c.165+2746C>A (n.165+2746C>A)
c.947C>A (p.Pro316His)
c.953C>A (p.Pro318His)
c.665C>A (p.Pro222His)
c.*2665C>A (n.*2665C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.15644803C=CA1347664503BTDc.887C= (p.Pro296=)
c.399+2746C= (n.399+2746C=)
c.165+2746C= (n.165+2746C=)
c.947C= (p.Pro316=)
c.953C= (p.Pro318=)
c.665C= (p.Pro222=)
c.*2665C= (n.*2665C=)
3g.15644803C>GCA351607552BTDc.887C>G (p.Pro296Arg)
c.399+2746C>G (n.399+2746C>G)
c.165+2746C>G (n.165+2746C>G)
c.947C>G (p.Pro316Arg)
c.953C>G (p.Pro318Arg)
c.665C>G (p.Pro222Arg)
c.*2665C>G (n.*2665C>G)
3g.15644803C>TCA351607553BTDc.887C>T (p.Pro296Leu)
c.399+2746C>T (n.399+2746C>T)
c.165+2746C>T (n.165+2746C>T)
c.947C>T (p.Pro316Leu)
c.953C>T (p.Pro318Leu)
c.665C>T (p.Pro222Leu)
c.*2665C>T (n.*2665C>T)
 gnomAD v4
3g.15644804T>ACA432819084BTDc.888T>A (p.Pro296=)
c.399+2747T>A (n.399+2747T>A)
c.165+2747T>A (n.165+2747T>A)
c.948T>A (p.Pro316=)
c.954T>A (p.Pro318=)
c.666T>A (p.Pro222=)
c.*2666T>A (n.*2666T>A)
3g.15644804T>CCA432819086BTDc.888T>C (p.Pro296=)
c.399+2747T>C (n.399+2747T>C)
c.165+2747T>C (n.165+2747T>C)
c.948T>C (p.Pro316=)
c.954T>C (p.Pro318=)
c.666T>C (p.Pro222=)
c.*2666T>C (n.*2666T>C)
 dbSNP gnomAD v2
3g.15644804T>GCA432819087BTDc.888T>G (p.Pro296=)
c.399+2747T>G (n.399+2747T>G)
c.165+2747T>G (n.165+2747T>G)
c.948T>G (p.Pro316=)
c.954T>G (p.Pro318=)
c.666T>G (p.Pro222=)
c.*2666T>G (n.*2666T>G)
3g.15644804T=CA1347664505BTDc.888T= (p.Pro296=)
c.399+2747T= (n.399+2747T=)
c.165+2747T= (n.165+2747T=)
c.948T= (p.Pro316=)
c.954T= (p.Pro318=)
c.666T= (p.Pro222=)
c.*2666T= (n.*2666T=)
3g.15644805C>ACA351607554BTDc.889C>A (p.Leu297Met)
c.399+2748C>A (n.399+2748C>A)
c.165+2748C>A (n.165+2748C>A)
c.949C>A (p.Leu317Met)
c.955C>A (p.Leu319Met)
c.667C>A (p.Leu223Met)
c.*2667C>A (n.*2667C>A)
3g.15644805C>GCA351607555BTDc.889C>G (p.Leu297Val)
c.399+2748C>G (n.399+2748C>G)
c.165+2748C>G (n.165+2748C>G)
c.949C>G (p.Leu317Val)
c.955C>G (p.Leu319Val)
c.667C>G (p.Leu223Val)
c.*2667C>G (n.*2667C>G)
3g.15644805C>TCA432819090BTDc.889C>T (p.Leu297=)
c.399+2748C>T (n.399+2748C>T)
c.165+2748C>T (n.165+2748C>T)
c.949C>T (p.Leu317=)
c.955C>T (p.Leu319=)
c.667C>T (p.Leu223=)
c.*2667C>T (n.*2667C>T)
3g.15644806T>ACA70622349BTDc.890T>A (p.Leu297Gln)
c.399+2749T>A (n.399+2749T>A)
c.165+2749T>A (n.165+2749T>A)
c.950T>A (p.Leu317Gln)
c.956T>A (p.Leu319Gln)
c.668T>A (p.Leu223Gln)
c.*2668T>A (n.*2668T>A)
 dbSNP gnomAD v3 gnomAD v4
3g.15644806T>CCA351607557BTDc.890T>C (p.Leu297Pro)
c.399+2749T>C (n.399+2749T>C)
c.165+2749T>C (n.165+2749T>C)
c.950T>C (p.Leu317Pro)
c.956T>C (p.Leu319Pro)
c.668T>C (p.Leu223Pro)
c.*2668T>C (n.*2668T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.15644806T>GCA351607556BTDc.890T>G (p.Leu297Arg)
c.399+2749T>G (n.399+2749T>G)
c.165+2749T>G (n.165+2749T>G)
c.950T>G (p.Leu317Arg)
c.956T>G (p.Leu319Arg)
c.668T>G (p.Leu223Arg)
c.*2668T>G (n.*2668T>G)
3g.15644806T=CA1347664508BTDc.890T= (p.Leu297=)
c.399+2749T= (n.399+2749T=)
c.165+2749T= (n.165+2749T=)
c.950T= (p.Leu317=)
c.956T= (p.Leu319=)
c.668T= (p.Leu223=)
c.*2668T= (n.*2668T=)
3g.15644807G>ACA432819091BTDc.891G>A (p.Leu297=)
c.399+2750G>A (n.399+2750G>A)
c.165+2750G>A (n.165+2750G>A)
c.951G>A (p.Leu317=)
c.957G>A (p.Leu319=)
c.669G>A (p.Leu223=)
c.*2669G>A (n.*2669G>A)
3g.15644807G>CCA432819094BTDc.891G>C (p.Leu297=)
c.399+2750G>C (n.399+2750G>C)
c.165+2750G>C (n.165+2750G>C)
c.951G>C (p.Leu317=)
c.957G>C (p.Leu319=)
c.669G>C (p.Leu223=)
c.*2669G>C (n.*2669G>C)
3g.15644807G>TCA432819095BTDc.891G>T (p.Leu297=)
c.399+2750G>T (n.399+2750G>T)
c.165+2750G>T (n.165+2750G>T)
c.951G>T (p.Leu317=)
c.957G>T (p.Leu319=)
c.669G>T (p.Leu223=)
c.*2669G>T (n.*2669G>T)
3g.15644808G>ACA351607558BTDc.892G>A (p.Glu298Lys)
c.399+2751G>A (n.399+2751G>A)
c.165+2751G>A (n.165+2751G>A)
c.952G>A (p.Glu318Lys)
c.958G>A (p.Glu320Lys)
c.670G>A (p.Glu224Lys)
c.*2670G>A (n.*2670G>A)
3g.15644808G>CCA351607560BTDc.892G>C (p.Glu298Gln)
c.399+2751G>C (n.399+2751G>C)
c.165+2751G>C (n.165+2751G>C)
c.952G>C (p.Glu318Gln)
c.958G>C (p.Glu320Gln)
c.670G>C (p.Glu224Gln)
c.*2670G>C (n.*2670G>C)
3g.15644808G>TCA351607559BTDc.892G>T (p.Glu298Ter)
c.399+2751G>T (n.399+2751G>T)
c.165+2751G>T (n.165+2751G>T)
c.952G>T (p.Glu318Ter)
c.958G>T (p.Glu320Ter)
c.670G>T (p.Glu224Ter)
c.*2670G>T (n.*2670G>T)
3g.15644809A>CCA351607561BTDc.893A>C (p.Glu298Ala)
c.399+2752A>C (n.399+2752A>C)
c.165+2752A>C (n.165+2752A>C)
c.953A>C (p.Glu318Ala)
c.959A>C (p.Glu320Ala)
c.671A>C (p.Glu224Ala)
c.*2671A>C (n.*2671A>C)
3g.15644809A>GCA351607562BTDc.893A>G (p.Glu298Gly)
c.399+2752A>G (n.399+2752A>G)
c.165+2752A>G (n.165+2752A>G)
c.953A>G (p.Glu318Gly)
c.959A>G (p.Glu320Gly)
c.671A>G (p.Glu224Gly)
c.*2671A>G (n.*2671A>G)
3g.15644809A>TCA351607563BTDc.893A>T (p.Glu298Val)
c.399+2752A>T (n.399+2752A>T)
c.165+2752A>T (n.165+2752A>T)
c.953A>T (p.Glu318Val)
c.959A>T (p.Glu320Val)
c.671A>T (p.Glu224Val)
c.*2671A>T (n.*2671A>T)
3g.15644810G>ACA432819098BTDc.894G>A (p.Glu298=)
c.399+2753G>A (n.399+2753G>A)
c.165+2753G>A (n.165+2753G>A)
c.954G>A (p.Glu318=)
c.960G>A (p.Glu320=)
c.672G>A (p.Glu224=)
c.*2672G>A (n.*2672G>A)
 ClinVar dbSNP
3g.15644810G>CCA351607564BTDc.894G>C (p.Glu298Asp)
c.399+2753G>C (n.399+2753G>C)
c.165+2753G>C (n.165+2753G>C)
c.954G>C (p.Glu318Asp)
c.960G>C (p.Glu320Asp)
c.672G>C (p.Glu224Asp)
c.*2672G>C (n.*2672G>C)
3g.15644810G>TCA351607565BTDc.894G>T (p.Glu298Asp)
c.399+2753G>T (n.399+2753G>T)
c.165+2753G>T (n.165+2753G>T)
c.954G>T (p.Glu318Asp)
c.960G>T (p.Glu320Asp)
c.672G>T (p.Glu224Asp)
c.*2672G>T (n.*2672G>T)
3g.15644811T>ACA351607566BTDc.895T>A (p.Ser299Thr)
c.399+2754T>A (n.399+2754T>A)
c.165+2754T>A (n.165+2754T>A)
c.955T>A (p.Ser319Thr)
c.961T>A (p.Ser321Thr)
c.673T>A (p.Ser225Thr)
c.*2673T>A (n.*2673T>A)
3g.15644811T>CCA351607567BTDc.895T>C (p.Ser299Pro)
c.399+2754T>C (n.399+2754T>C)
c.165+2754T>C (n.165+2754T>C)
c.955T>C (p.Ser319Pro)
c.961T>C (p.Ser321Pro)
c.673T>C (p.Ser225Pro)
c.*2673T>C (n.*2673T>C)
3g.15644811T>GCA351607568BTDc.895T>G (p.Ser299Ala)
c.399+2754T>G (n.399+2754T>G)
c.165+2754T>G (n.165+2754T>G)
c.955T>G (p.Ser319Ala)
c.961T>G (p.Ser321Ala)
c.673T>G (p.Ser225Ala)
c.*2673T>G (n.*2673T>G)
3g.15644812C>ACA351607569BTDc.896C>A (p.Ser299Tyr)
c.399+2755C>A (n.399+2755C>A)
c.165+2755C>A (n.165+2755C>A)
c.956C>A (p.Ser319Tyr)
c.962C>A (p.Ser321Tyr)
c.674C>A (p.Ser225Tyr)
c.*2674C>A (n.*2674C>A)
3g.15644812C>GCA351607570BTDc.896C>G (p.Ser299Cys)
c.399+2755C>G (n.399+2755C>G)
c.165+2755C>G (n.165+2755C>G)
c.956C>G (p.Ser319Cys)
c.962C>G (p.Ser321Cys)
c.674C>G (p.Ser225Cys)
c.*2674C>G (n.*2674C>G)
3g.15644812C>TCA351607571BTDc.896C>T (p.Ser299Phe)
c.399+2755C>T (n.399+2755C>T)
c.165+2755C>T (n.165+2755C>T)
c.956C>T (p.Ser319Phe)
c.962C>T (p.Ser321Phe)
c.674C>T (p.Ser225Phe)
c.*2674C>T (n.*2674C>T)
 ClinVar gnomAD v4
3g.15644813C>ACA432819099BTDc.897C>A (p.Ser299=)
c.399+2756C>A (n.399+2756C>A)
c.165+2756C>A (n.165+2756C>A)
c.957C>A (p.Ser319=)
c.963C>A (p.Ser321=)
c.675C>A (p.Ser225=)
c.*2675C>A (n.*2675C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.15644813C=CA1347664513BTDc.897C= (p.Ser299=)
c.399+2756C= (n.399+2756C=)
c.165+2756C= (n.165+2756C=)
c.957C= (p.Ser319=)
c.963C= (p.Ser321=)
c.675C= (p.Ser225=)
c.*2675C= (n.*2675C=)
3g.15644813C>GCA432819101BTDc.897C>G (p.Ser299=)
c.399+2756C>G (n.399+2756C>G)
c.165+2756C>G (n.165+2756C>G)
c.957C>G (p.Ser319=)
c.963C>G (p.Ser321=)
c.675C>G (p.Ser225=)
c.*2675C>G (n.*2675C>G)
3g.15644813C>TCA432819103BTDc.897C>T (p.Ser299=)
c.399+2756C>T (n.399+2756C>T)
c.165+2756C>T (n.165+2756C>T)
c.957C>T (p.Ser319=)
c.963C>T (p.Ser321=)
c.675C>T (p.Ser225=)
c.*2675C>T (n.*2675C>T)
 ClinVar
3g.15644814T>ACA351607574BTDc.898T>A (p.Phe300Ile)
c.399+2757T>A (n.399+2757T>A)
c.165+2757T>A (n.165+2757T>A)
c.958T>A (p.Phe320Ile)
c.964T>A (p.Phe322Ile)
c.676T>A (p.Phe226Ile)
c.*2676T>A (n.*2676T>A)
3g.15644814T>CCA351607573BTDc.898T>C (p.Phe300Leu)
c.399+2757T>C (n.399+2757T>C)
c.165+2757T>C (n.165+2757T>C)
c.958T>C (p.Phe320Leu)
c.964T>C (p.Phe322Leu)
c.676T>C (p.Phe226Leu)
c.*2676T>C (n.*2676T>C)
3g.15644814T>GCA351607572BTDc.898T>G (p.Phe300Val)
c.399+2757T>G (n.399+2757T>G)
c.165+2757T>G (n.165+2757T>G)
c.958T>G (p.Phe320Val)
c.964T>G (p.Phe322Val)
c.676T>G (p.Phe226Val)
c.*2676T>G (n.*2676T>G)
3g.15644817dupCA2580068526BTDc.901dup (p.Trp301LeufsTer4)
c.399+2760dup (n.399+2760dup)
c.165+2760dup (n.165+2760dup)
c.961dup (p.Trp321LeufsTer4)
c.967dup (p.Trp323LeufsTer4)
c.679dup (p.Trp227LeufsTer4)
c.*2679dup (n.*2679dup)
 ClinVar
3g.15644815T>ACA351607575BTDc.899T>A (p.Phe300Tyr)
c.399+2758T>A (n.399+2758T>A)
c.165+2758T>A (n.165+2758T>A)
c.959T>A (p.Phe320Tyr)
c.965T>A (p.Phe322Tyr)
c.677T>A (p.Phe226Tyr)
c.*2677T>A (n.*2677T>A)
3g.15644815T>CCA351607576BTDc.899T>C (p.Phe300Ser)
c.399+2758T>C (n.399+2758T>C)
c.165+2758T>C (n.165+2758T>C)
c.959T>C (p.Phe320Ser)
c.965T>C (p.Phe322Ser)
c.677T>C (p.Phe226Ser)
c.*2677T>C (n.*2677T>C)
3g.15644815T>GCA351607577BTDc.899T>G (p.Phe300Cys)
c.399+2758T>G (n.399+2758T>G)
c.165+2758T>G (n.165+2758T>G)
c.959T>G (p.Phe320Cys)
c.965T>G (p.Phe322Cys)
c.677T>G (p.Phe226Cys)
c.*2677T>G (n.*2677T>G)
3g.15644816T>ACA351607578BTDc.900T>A (p.Phe300Leu)
c.399+2759T>A (n.399+2759T>A)
c.165+2759T>A (n.165+2759T>A)
c.960T>A (p.Phe320Leu)
c.966T>A (p.Phe322Leu)
c.678T>A (p.Phe226Leu)
c.*2678T>A (n.*2678T>A)
3g.15644816T>CCA432819106BTDc.900T>C (p.Phe300=)
c.399+2759T>C (n.399+2759T>C)
c.165+2759T>C (n.165+2759T>C)
c.960T>C (p.Phe320=)
c.966T>C (p.Phe322=)
c.678T>C (p.Phe226=)
c.*2678T>C (n.*2678T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15644816T>GCA351607579BTDc.900T>G (p.Phe300Leu)
c.399+2759T>G (n.399+2759T>G)
c.165+2759T>G (n.165+2759T>G)
c.960T>G (p.Phe320Leu)
c.966T>G (p.Phe322Leu)
c.678T>G (p.Phe226Leu)
c.*2678T>G (n.*2678T>G)
3g.15644816T=CA1347664515BTDc.900T= (p.Phe300=)
c.399+2759T= (n.399+2759T=)
c.165+2759T= (n.165+2759T=)
c.960T= (p.Phe320=)
c.966T= (p.Phe322=)
c.678T= (p.Phe226=)
c.*2678T= (n.*2678T=)
3g.15644817T>ACA351607580BTDc.901T>A (p.Trp301Arg)
c.399+2760T>A (n.399+2760T>A)
c.165+2760T>A (n.165+2760T>A)
c.961T>A (p.Trp321Arg)
c.967T>A (p.Trp323Arg)
c.679T>A (p.Trp227Arg)
c.*2679T>A (n.*2679T>A)
3g.15644817T>CCA351607581BTDc.901T>C (p.Trp301Arg)
c.399+2760T>C (n.399+2760T>C)
c.165+2760T>C (n.165+2760T>C)
c.961T>C (p.Trp321Arg)
c.967T>C (p.Trp323Arg)
c.679T>C (p.Trp227Arg)
c.*2679T>C (n.*2679T>C)
3g.15644817T>GCA351607582BTDc.901T>G (p.Trp301Gly)
c.399+2760T>G (n.399+2760T>G)
c.165+2760T>G (n.165+2760T>G)
c.961T>G (p.Trp321Gly)
c.967T>G (p.Trp323Gly)
c.679T>G (p.Trp227Gly)
c.*2679T>G (n.*2679T>G)
3g.15644818G>ACA351607583BTDc.902G>A (p.Trp301Ter)
c.399+2761G>A (n.399+2761G>A)
c.165+2761G>A (n.165+2761G>A)
c.962G>A (p.Trp321Ter)
c.968G>A (p.Trp323Ter)
c.680G>A (p.Trp227Ter)
c.*2680G>A (n.*2680G>A)
3g.15644818G>CCA351607584BTDc.902G>C (p.Trp301Ser)
c.399+2761G>C (n.399+2761G>C)
c.165+2761G>C (n.165+2761G>C)
c.962G>C (p.Trp321Ser)
c.968G>C (p.Trp323Ser)
c.680G>C (p.Trp227Ser)
c.*2680G>C (n.*2680G>C)
3g.15644818G>TCA351607585BTDc.902G>T (p.Trp301Leu)
c.399+2761G>T (n.399+2761G>T)
c.165+2761G>T (n.165+2761G>T)
c.962G>T (p.Trp321Leu)
c.968G>T (p.Trp323Leu)
c.680G>T (p.Trp227Leu)
c.*2680G>T (n.*2680G>T)
 gnomAD v4
3g.15644819G>ACA351607588BTDc.903G>A (p.Trp301Ter)
c.399+2762G>A (n.399+2762G>A)
c.165+2762G>A (n.165+2762G>A)
c.963G>A (p.Trp321Ter)
c.969G>A (p.Trp323Ter)
c.681G>A (p.Trp227Ter)
c.*2681G>A (n.*2681G>A)
 gnomAD v4
3g.15644819G>CCA351607587BTDc.903G>C (p.Trp301Cys)
c.399+2762G>C (n.399+2762G>C)
c.165+2762G>C (n.165+2762G>C)
c.963G>C (p.Trp321Cys)
c.969G>C (p.Trp323Cys)
c.681G>C (p.Trp227Cys)
c.*2681G>C (n.*2681G>C)
3g.15644819G>TCA351607586BTDc.903G>T (p.Trp301Cys)
c.399+2762G>T (n.399+2762G>T)
c.165+2762G>T (n.165+2762G>T)
c.963G>T (p.Trp321Cys)
c.969G>T (p.Trp323Cys)
c.681G>T (p.Trp227Cys)
c.*2681G>T (n.*2681G>T)
 gnomAD v4
3g.15644820T>ACA351607589BTDc.904T>A (p.Tyr302Asn)
c.399+2763T>A (n.399+2763T>A)
c.165+2763T>A (n.165+2763T>A)
c.964T>A (p.Tyr322Asn)
c.970T>A (p.Tyr324Asn)
c.682T>A (p.Tyr228Asn)
c.*2682T>A (n.*2682T>A)
3g.15644820T>CCA351607590BTDc.904T>C (p.Tyr302His)
c.399+2763T>C (n.399+2763T>C)
c.165+2763T>C (n.165+2763T>C)
c.964T>C (p.Tyr322His)
c.970T>C (p.Tyr324His)
c.682T>C (p.Tyr228His)
c.*2682T>C (n.*2682T>C)
 dbSNP gnomAD v2 gnomAD v4
3g.15644820T>GCA351607591BTDc.904T>G (p.Tyr302Asp)
c.399+2763T>G (n.399+2763T>G)
c.165+2763T>G (n.165+2763T>G)
c.964T>G (p.Tyr322Asp)
c.970T>G (p.Tyr324Asp)
c.682T>G (p.Tyr228Asp)
c.*2682T>G (n.*2682T>G)
3g.15644820T=CA1347664517BTDc.904T= (p.Tyr302=)
c.399+2763T= (n.399+2763T=)
c.165+2763T= (n.165+2763T=)
c.964T= (p.Tyr322=)
c.970T= (p.Tyr324=)
c.682T= (p.Tyr228=)
c.*2682T= (n.*2682T=)
3g.15644821A=CA1347664521BTDc.905A= (p.Tyr302=)
c.399+2764A= (n.399+2764A=)
c.165+2764A= (n.165+2764A=)
c.965A= (p.Tyr322=)
c.971A= (p.Tyr324=)
c.683A= (p.Tyr228=)
c.*2683A= (n.*2683A=)
3g.15644821A>CCA351607592BTDc.905A>C (p.Tyr302Ser)
c.399+2764A>C (n.399+2764A>C)
c.165+2764A>C (n.165+2764A>C)
c.965A>C (p.Tyr322Ser)
c.971A>C (p.Tyr324Ser)
c.683A>C (p.Tyr228Ser)
c.*2683A>C (n.*2683A>C)
3g.15644821A>GCA70622350BTDc.905A>G (p.Tyr302Cys)
c.399+2764A>G (n.399+2764A>G)
c.165+2764A>G (n.165+2764A>G)
c.965A>G (p.Tyr322Cys)
c.971A>G (p.Tyr324Cys)
c.683A>G (p.Tyr228Cys)
c.*2683A>G (n.*2683A>G)
 dbSNP
3g.15644821A>TCA351607593BTDc.905A>T (p.Tyr302Phe)
c.399+2764A>T (n.399+2764A>T)
c.165+2764A>T (n.165+2764A>T)
c.965A>T (p.Tyr322Phe)
c.971A>T (p.Tyr324Phe)
c.683A>T (p.Tyr228Phe)
c.*2683A>T (n.*2683A>T)
3g.15644822C>ACA2277399BTDc.906C>A (p.Tyr302Ter)
c.399+2765C>A (n.399+2765C>A)
c.165+2765C>A (n.165+2765C>A)
c.966C>A (p.Tyr322Ter)
c.972C>A (p.Tyr324Ter)
c.684C>A (p.Tyr228Ter)
c.*2684C>A (n.*2684C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644822C=CA1347664524BTDc.906C= (p.Tyr302=)
c.399+2765C= (n.399+2765C=)
c.165+2765C= (n.165+2765C=)
c.966C= (p.Tyr322=)
c.972C= (p.Tyr324=)
c.684C= (p.Tyr228=)
c.*2684C= (n.*2684C=)
3g.15644822C>GCA351607594BTDc.906C>G (p.Tyr302Ter)
c.399+2765C>G (n.399+2765C>G)
c.165+2765C>G (n.165+2765C>G)
c.966C>G (p.Tyr322Ter)
c.972C>G (p.Tyr324Ter)
c.684C>G (p.Tyr228Ter)
c.*2684C>G (n.*2684C>G)
3g.15644822C>TCA432819112BTDc.906C>T (p.Tyr302=)
c.399+2765C>T (n.399+2765C>T)
c.165+2765C>T (n.165+2765C>T)
c.966C>T (p.Tyr322=)
c.972C>T (p.Tyr324=)
c.684C>T (p.Tyr228=)
c.*2684C>T (n.*2684C>T)
 gnomAD v4 COSMIC

Number of alleles fetched