Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.44669391A= | CA2173726736 | PATL2 | c.953T= (p.Ile318=) c.386T= (p.Ile129=) c.944T= (p.Ile315=) c.731T= (p.Ile244=) c.701T= (p.Ile234=) c.692T= (p.Ile231=) c.518T= (p.Ile173=) c.1067T= (p.Ile356=) c.1058T= (p.Ile353=) c.632T= (p.Ile211=) c.860T= (p.Ile287=) | |
15 | g.44669391A>C | CA392241719 | PATL2 | c.953T>G (p.Ile318Arg) c.386T>G (p.Ile129Arg) c.944T>G (p.Ile315Arg) c.731T>G (p.Ile244Arg) c.701T>G (p.Ile234Arg) c.692T>G (p.Ile231Arg) c.518T>G (p.Ile173Arg) c.1067T>G (p.Ile356Arg) c.1058T>G (p.Ile353Arg) c.632T>G (p.Ile211Arg) c.860T>G (p.Ile287Arg) | |
15 | g.44669391A>G | CA270118879 | PATL2 | c.953T>C (p.Ile318Thr) c.386T>C (p.Ile129Thr) c.944T>C (p.Ile315Thr) c.731T>C (p.Ile244Thr) c.701T>C (p.Ile234Thr) c.692T>C (p.Ile231Thr) c.518T>C (p.Ile173Thr) c.1067T>C (p.Ile356Thr) c.1058T>C (p.Ile353Thr) c.632T>C (p.Ile211Thr) c.860T>C (p.Ile287Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.44669391A>T | CA392241718 | PATL2 | c.953T>A (p.Ile318Lys) c.386T>A (p.Ile129Lys) c.944T>A (p.Ile315Lys) c.731T>A (p.Ile244Lys) c.701T>A (p.Ile234Lys) c.692T>A (p.Ile231Lys) c.518T>A (p.Ile173Lys) c.1067T>A (p.Ile356Lys) c.1058T>A (p.Ile353Lys) c.632T>A (p.Ile211Lys) c.860T>A (p.Ile287Lys) | |
15 | g.44669392T>A | CA392241721 | PATL2 | c.952A>T (p.Ile318Leu) c.385A>T (p.Ile129Leu) c.943A>T (p.Ile315Leu) c.730A>T (p.Ile244Leu) c.700A>T (p.Ile234Leu) c.691A>T (p.Ile231Leu) c.517A>T (p.Ile173Leu) c.1066A>T (p.Ile356Leu) c.1057A>T (p.Ile353Leu) c.631A>T (p.Ile211Leu) c.859A>T (p.Ile287Leu) | |
15 | g.44669392T>C | CA392241720 | PATL2 | c.952A>G (p.Ile318Val) c.385A>G (p.Ile129Val) c.943A>G (p.Ile315Val) c.730A>G (p.Ile244Val) c.700A>G (p.Ile234Val) c.691A>G (p.Ile231Val) c.517A>G (p.Ile173Val) c.1066A>G (p.Ile356Val) c.1057A>G (p.Ile353Val) c.631A>G (p.Ile211Val) c.859A>G (p.Ile287Val) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.44669392T>G | CA392241722 | PATL2 | c.952A>C (p.Ile318Leu) c.385A>C (p.Ile129Leu) c.943A>C (p.Ile315Leu) c.730A>C (p.Ile244Leu) c.700A>C (p.Ile234Leu) c.691A>C (p.Ile231Leu) c.517A>C (p.Ile173Leu) c.1066A>C (p.Ile356Leu) c.1057A>C (p.Ile353Leu) c.631A>C (p.Ile211Leu) c.859A>C (p.Ile287Leu) | |
15 | g.44669392T= | CA2173726742 | PATL2 | c.952A= (p.Ile318=) c.385A= (p.Ile129=) c.943A= (p.Ile315=) c.730A= (p.Ile244=) c.700A= (p.Ile234=) c.691A= (p.Ile231=) c.517A= (p.Ile173=) c.1066A= (p.Ile356=) c.1057A= (p.Ile353=) c.631A= (p.Ile211=) c.859A= (p.Ile287=) | |
15 | g.44669393T>A | CA392241723 | PATL2 | c.951A>T (p.Glu317Asp) c.384A>T (p.Glu128Asp) c.942A>T (p.Glu314Asp) c.729A>T (p.Glu243Asp) c.699A>T (p.Glu233Asp) c.690A>T (p.Glu230Asp) c.516A>T (p.Glu172Asp) c.1065A>T (p.Glu355Asp) c.1056A>T (p.Glu352Asp) c.630A>T (p.Glu210Asp) c.858A>T (p.Glu286Asp) | |
15 | g.44669393T>C | CA490210403 | PATL2 | c.951A>G (p.Glu317=) c.384A>G (p.Glu128=) c.942A>G (p.Glu314=) c.729A>G (p.Glu243=) c.699A>G (p.Glu233=) c.690A>G (p.Glu230=) c.516A>G (p.Glu172=) c.1065A>G (p.Glu355=) c.1056A>G (p.Glu352=) c.630A>G (p.Glu210=) c.858A>G (p.Glu286=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.44669393T>G | CA392241724 | PATL2 | c.951A>C (p.Glu317Asp) c.384A>C (p.Glu128Asp) c.942A>C (p.Glu314Asp) c.729A>C (p.Glu243Asp) c.699A>C (p.Glu233Asp) c.690A>C (p.Glu230Asp) c.516A>C (p.Glu172Asp) c.1065A>C (p.Glu355Asp) c.1056A>C (p.Glu352Asp) c.630A>C (p.Glu210Asp) c.858A>C (p.Glu286Asp) | |
15 | g.44669393T= | CA2173726744 | PATL2 | c.951A= (p.Glu317=) c.384A= (p.Glu128=) c.942A= (p.Glu314=) c.729A= (p.Glu243=) c.699A= (p.Glu233=) c.690A= (p.Glu230=) c.516A= (p.Glu172=) c.1065A= (p.Glu355=) c.1056A= (p.Glu352=) c.630A= (p.Glu210=) c.858A= (p.Glu286=) | |
15 | g.44669394T>A | CA392241725 | PATL2 | c.950A>T (p.Glu317Val) c.383A>T (p.Glu128Val) c.941A>T (p.Glu314Val) c.728A>T (p.Glu243Val) c.698A>T (p.Glu233Val) c.689A>T (p.Glu230Val) c.515A>T (p.Glu172Val) c.1064A>T (p.Glu355Val) c.1055A>T (p.Glu352Val) c.629A>T (p.Glu210Val) c.857A>T (p.Glu286Val) | |
15 | g.44669394T>C | CA392241727 | PATL2 | c.950A>G (p.Glu317Gly) c.383A>G (p.Glu128Gly) c.941A>G (p.Glu314Gly) c.728A>G (p.Glu243Gly) c.698A>G (p.Glu233Gly) c.689A>G (p.Glu230Gly) c.515A>G (p.Glu172Gly) c.1064A>G (p.Glu355Gly) c.1055A>G (p.Glu352Gly) c.629A>G (p.Glu210Gly) c.857A>G (p.Glu286Gly) | |
15 | g.44669394T>G | CA392241728 | PATL2 | c.950A>C (p.Glu317Ala) c.383A>C (p.Glu128Ala) c.941A>C (p.Glu314Ala) c.728A>C (p.Glu243Ala) c.698A>C (p.Glu233Ala) c.689A>C (p.Glu230Ala) c.515A>C (p.Glu172Ala) c.1064A>C (p.Glu355Ala) c.1055A>C (p.Glu352Ala) c.629A>C (p.Glu210Ala) c.857A>C (p.Glu286Ala) | |
15 | g.44669395C>A | CA392241731 | PATL2 | c.949G>T (p.Glu317Ter) c.382G>T (p.Glu128Ter) c.940G>T (p.Glu314Ter) c.727G>T (p.Glu243Ter) c.697G>T (p.Glu233Ter) c.688G>T (p.Glu230Ter) c.514G>T (p.Glu172Ter) c.1063G>T (p.Glu355Ter) c.1054G>T (p.Glu352Ter) c.628G>T (p.Glu210Ter) c.856G>T (p.Glu286Ter) | |
15 | g.44669395C>G | CA392241732 | PATL2 | c.949G>C (p.Glu317Gln) c.382G>C (p.Glu128Gln) c.940G>C (p.Glu314Gln) c.727G>C (p.Glu243Gln) c.697G>C (p.Glu233Gln) c.688G>C (p.Glu230Gln) c.514G>C (p.Glu172Gln) c.1063G>C (p.Glu355Gln) c.1054G>C (p.Glu352Gln) c.628G>C (p.Glu210Gln) c.856G>C (p.Glu286Gln) | |
15 | g.44669395C>T | CA392241733 | PATL2 | c.949G>A (p.Glu317Lys) c.382G>A (p.Glu128Lys) c.940G>A (p.Glu314Lys) c.727G>A (p.Glu243Lys) c.697G>A (p.Glu233Lys) c.688G>A (p.Glu230Lys) c.514G>A (p.Glu172Lys) c.1063G>A (p.Glu355Lys) c.1054G>A (p.Glu352Lys) c.628G>A (p.Glu210Lys) c.856G>A (p.Glu286Lys) | |
15 | g.44669396T>A | CA490210404 | PATL2 | c.948A>T (p.Leu316=) c.381A>T (p.Leu127=) c.939A>T (p.Leu313=) c.726A>T (p.Leu242=) c.696A>T (p.Leu232=) c.687A>T (p.Leu229=) c.513A>T (p.Leu171=) c.1062A>T (p.Leu354=) c.1053A>T (p.Leu351=) c.627A>T (p.Leu209=) c.855A>T (p.Leu285=) | |
15 | g.44669396T>C | CA490210405 | PATL2 | c.948A>G (p.Leu316=) c.381A>G (p.Leu127=) c.939A>G (p.Leu313=) c.726A>G (p.Leu242=) c.696A>G (p.Leu232=) c.687A>G (p.Leu229=) c.513A>G (p.Leu171=) c.1062A>G (p.Leu354=) c.1053A>G (p.Leu351=) c.627A>G (p.Leu209=) c.855A>G (p.Leu285=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.44669396T>G | CA490210406 | PATL2 | c.948A>C (p.Leu316=) c.381A>C (p.Leu127=) c.939A>C (p.Leu313=) c.726A>C (p.Leu242=) c.696A>C (p.Leu232=) c.687A>C (p.Leu229=) c.513A>C (p.Leu171=) c.1062A>C (p.Leu354=) c.1053A>C (p.Leu351=) c.627A>C (p.Leu209=) c.855A>C (p.Leu285=) | |
15 | g.44669396T= | CA2173726748 | PATL2 | c.948A= (p.Leu316=) c.381A= (p.Leu127=) c.939A= (p.Leu313=) c.726A= (p.Leu242=) c.696A= (p.Leu232=) c.687A= (p.Leu229=) c.513A= (p.Leu171=) c.1062A= (p.Leu354=) c.1053A= (p.Leu351=) c.627A= (p.Leu209=) c.855A= (p.Leu285=) | |
15 | g.44669397A= | CA2173726752 | PATL2 | c.947T= (p.Leu316=) c.380T= (p.Leu127=) c.938T= (p.Leu313=) c.725T= (p.Leu242=) c.695T= (p.Leu232=) c.686T= (p.Leu229=) c.512T= (p.Leu171=) c.1061T= (p.Leu354=) c.1052T= (p.Leu351=) c.626T= (p.Leu209=) c.854T= (p.Leu285=) | |
15 | g.44669397A>C | CA392241737 | PATL2 | c.947T>G (p.Leu316Arg) c.380T>G (p.Leu127Arg) c.938T>G (p.Leu313Arg) c.725T>G (p.Leu242Arg) c.695T>G (p.Leu232Arg) c.686T>G (p.Leu229Arg) c.512T>G (p.Leu171Arg) c.1061T>G (p.Leu354Arg) c.1052T>G (p.Leu351Arg) c.626T>G (p.Leu209Arg) c.854T>G (p.Leu285Arg) | |
15 | g.44669397A>G | CA392241739 | PATL2 | c.947T>C (p.Leu316Pro) c.380T>C (p.Leu127Pro) c.938T>C (p.Leu313Pro) c.725T>C (p.Leu242Pro) c.695T>C (p.Leu232Pro) c.686T>C (p.Leu229Pro) c.512T>C (p.Leu171Pro) c.1061T>C (p.Leu354Pro) c.1052T>C (p.Leu351Pro) c.626T>C (p.Leu209Pro) c.854T>C (p.Leu285Pro) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.44669397A>T | CA392241741 | PATL2 | c.947T>A (p.Leu316Gln) c.380T>A (p.Leu127Gln) c.938T>A (p.Leu313Gln) c.725T>A (p.Leu242Gln) c.695T>A (p.Leu232Gln) c.686T>A (p.Leu229Gln) c.512T>A (p.Leu171Gln) c.1061T>A (p.Leu354Gln) c.1052T>A (p.Leu351Gln) c.626T>A (p.Leu209Gln) c.854T>A (p.Leu285Gln) | |
15 | g.44669398G>A | CA490210407 | PATL2 | c.946C>T (p.Leu316=) c.379C>T (p.Leu127=) c.937C>T (p.Leu313=) c.724C>T (p.Leu242=) c.694C>T (p.Leu232=) c.685C>T (p.Leu229=) c.511C>T (p.Leu171=) c.1060C>T (p.Leu354=) c.1051C>T (p.Leu351=) c.625C>T (p.Leu209=) c.853C>T (p.Leu285=) | |
15 | g.44669398G>C | CA392241746 | PATL2 | c.946C>G (p.Leu316Val) c.379C>G (p.Leu127Val) c.937C>G (p.Leu313Val) c.724C>G (p.Leu242Val) c.694C>G (p.Leu232Val) c.685C>G (p.Leu229Val) c.511C>G (p.Leu171Val) c.1060C>G (p.Leu354Val) c.1051C>G (p.Leu351Val) c.625C>G (p.Leu209Val) c.853C>G (p.Leu285Val) | |
15 | g.44669398G>T | CA392241748 | PATL2 | c.946C>A (p.Leu316Ile) c.379C>A (p.Leu127Ile) c.937C>A (p.Leu313Ile) c.724C>A (p.Leu242Ile) c.694C>A (p.Leu232Ile) c.685C>A (p.Leu229Ile) c.511C>A (p.Leu171Ile) c.1060C>A (p.Leu354Ile) c.1051C>A (p.Leu351Ile) c.625C>A (p.Leu209Ile) c.853C>A (p.Leu285Ile) | |
15 | g.44669399T>A | CA392241752 | PATL2 | c.945A>T (p.Leu315Phe) c.378A>T (p.Leu126Phe) c.936A>T (p.Leu312Phe) c.723A>T (p.Leu241Phe) c.693A>T (p.Leu231Phe) c.684A>T (p.Leu228Phe) c.510A>T (p.Leu170Phe) c.1059A>T (p.Leu353Phe) c.1050A>T (p.Leu350Phe) c.624A>T (p.Leu208Phe) c.852A>T (p.Leu284Phe) | |
15 | g.44669399T>C | CA490210408 | PATL2 | c.945A>G (p.Leu315=) c.378A>G (p.Leu126=) c.936A>G (p.Leu312=) c.723A>G (p.Leu241=) c.693A>G (p.Leu231=) c.684A>G (p.Leu228=) c.510A>G (p.Leu170=) c.1059A>G (p.Leu353=) c.1050A>G (p.Leu350=) c.624A>G (p.Leu208=) c.852A>G (p.Leu284=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.44669399T>G | CA392241750 | PATL2 | c.945A>C (p.Leu315Phe) c.378A>C (p.Leu126Phe) c.936A>C (p.Leu312Phe) c.723A>C (p.Leu241Phe) c.693A>C (p.Leu231Phe) c.684A>C (p.Leu228Phe) c.510A>C (p.Leu170Phe) c.1059A>C (p.Leu353Phe) c.1050A>C (p.Leu350Phe) c.624A>C (p.Leu208Phe) c.852A>C (p.Leu284Phe) | |
15 | g.44669399T= | CA2173726755 | PATL2 | c.945A= (p.Leu315=) c.378A= (p.Leu126=) c.936A= (p.Leu312=) c.723A= (p.Leu241=) c.693A= (p.Leu231=) c.684A= (p.Leu228=) c.510A= (p.Leu170=) c.1059A= (p.Leu353=) c.1050A= (p.Leu350=) c.624A= (p.Leu208=) c.852A= (p.Leu284=) | |
15 | g.44669400A= | CA2173726758 | PATL2 | c.944T= (p.Leu315=) c.377T= (p.Leu126=) c.935T= (p.Leu312=) c.722T= (p.Leu241=) c.692T= (p.Leu231=) c.683T= (p.Leu228=) c.509T= (p.Leu170=) c.1058T= (p.Leu353=) c.1049T= (p.Leu350=) c.623T= (p.Leu208=) c.851T= (p.Leu284=) | |
15 | g.44669400A>C | CA392241754 | PATL2 | c.944T>G (p.Leu315Ter) c.377T>G (p.Leu126Ter) c.935T>G (p.Leu312Ter) c.722T>G (p.Leu241Ter) c.692T>G (p.Leu231Ter) c.683T>G (p.Leu228Ter) c.509T>G (p.Leu170Ter) c.1058T>G (p.Leu353Ter) c.1049T>G (p.Leu350Ter) c.623T>G (p.Leu208Ter) c.851T>G (p.Leu284Ter) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.44669400A>G | CA392241756 | PATL2 | c.944T>C (p.Leu315Ser) c.377T>C (p.Leu126Ser) c.935T>C (p.Leu312Ser) c.722T>C (p.Leu241Ser) c.692T>C (p.Leu231Ser) c.683T>C (p.Leu228Ser) c.509T>C (p.Leu170Ser) c.1058T>C (p.Leu353Ser) c.1049T>C (p.Leu350Ser) c.623T>C (p.Leu208Ser) c.851T>C (p.Leu284Ser) | |
15 | g.44669400A>T | CA392241757 | PATL2 | c.944T>A (p.Leu315Ter) c.377T>A (p.Leu126Ter) c.935T>A (p.Leu312Ter) c.722T>A (p.Leu241Ter) c.692T>A (p.Leu231Ter) c.683T>A (p.Leu228Ter) c.509T>A (p.Leu170Ter) c.1058T>A (p.Leu353Ter) c.1049T>A (p.Leu350Ter) c.623T>A (p.Leu208Ter) c.851T>A (p.Leu284Ter) | |
15 | g.44669401A= | CA2173726760 | PATL2 | c.943T= (p.Leu315=) c.376T= (p.Leu126=) c.934T= (p.Leu312=) c.721T= (p.Leu241=) c.691T= (p.Leu231=) c.682T= (p.Leu228=) c.508T= (p.Leu170=) c.1057T= (p.Leu353=) c.1048T= (p.Leu350=) c.622T= (p.Leu208=) c.850T= (p.Leu284=) | |
15 | g.44669401A>C | CA392241760 | PATL2 | c.943T>G (p.Leu315Val) c.376T>G (p.Leu126Val) c.934T>G (p.Leu312Val) c.721T>G (p.Leu241Val) c.691T>G (p.Leu231Val) c.682T>G (p.Leu228Val) c.508T>G (p.Leu170Val) c.1057T>G (p.Leu353Val) c.1048T>G (p.Leu350Val) c.622T>G (p.Leu208Val) c.850T>G (p.Leu284Val) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.44669401A>G | CA490210409 | PATL2 | c.943T>C (p.Leu315=) c.376T>C (p.Leu126=) c.934T>C (p.Leu312=) c.721T>C (p.Leu241=) c.691T>C (p.Leu231=) c.682T>C (p.Leu228=) c.508T>C (p.Leu170=) c.1057T>C (p.Leu353=) c.1048T>C (p.Leu350=) c.622T>C (p.Leu208=) c.850T>C (p.Leu284=) | |
15 | g.44669401A>T | CA392241762 | PATL2 | c.943T>A (p.Leu315Ile) c.376T>A (p.Leu126Ile) c.934T>A (p.Leu312Ile) c.721T>A (p.Leu241Ile) c.691T>A (p.Leu231Ile) c.682T>A (p.Leu228Ile) c.508T>A (p.Leu170Ile) c.1057T>A (p.Leu353Ile) c.1048T>A (p.Leu350Ile) c.622T>A (p.Leu208Ile) c.850T>A (p.Leu284Ile) | |
15 | g.44669402C>A | CA392241765 | PATL2 | c.942G>T (p.Gln314His) c.375G>T (p.Gln125His) c.933G>T (p.Gln311His) c.720G>T (p.Gln240His) c.690G>T (p.Gln230His) c.681G>T (p.Gln227His) c.507G>T (p.Gln169His) c.1056G>T (p.Gln352His) c.1047G>T (p.Gln349His) c.621G>T (p.Gln207His) c.849G>T (p.Gln283His) | |
15 | g.44669402C= | CA2173726763 | PATL2 | c.942G= (p.Gln314=) c.375G= (p.Gln125=) c.933G= (p.Gln311=) c.720G= (p.Gln240=) c.690G= (p.Gln230=) c.681G= (p.Gln227=) c.507G= (p.Gln169=) c.1056G= (p.Gln352=) c.1047G= (p.Gln349=) c.621G= (p.Gln207=) c.849G= (p.Gln283=) | |
15 | g.44669402C>G | CA392241768 | PATL2 | c.942G>C (p.Gln314His) c.375G>C (p.Gln125His) c.933G>C (p.Gln311His) c.720G>C (p.Gln240His) c.690G>C (p.Gln230His) c.681G>C (p.Gln227His) c.507G>C (p.Gln169His) c.1056G>C (p.Gln352His) c.1047G>C (p.Gln349His) c.621G>C (p.Gln207His) c.849G>C (p.Gln283His) | |
15 | g.44669402C>T | CA490210410 | PATL2 | c.942G>A (p.Gln314=) c.375G>A (p.Gln125=) c.933G>A (p.Gln311=) c.720G>A (p.Gln240=) c.690G>A (p.Gln230=) c.681G>A (p.Gln227=) c.507G>A (p.Gln169=) c.1056G>A (p.Gln352=) c.1047G>A (p.Gln349=) c.621G>A (p.Gln207=) c.849G>A (p.Gln283=) | dbSNP gnomAD v4 |
15 | g.44669403T>A | CA392241770 | PATL2 | c.941A>T (p.Gln314Leu) c.374A>T (p.Gln125Leu) c.932A>T (p.Gln311Leu) c.719A>T (p.Gln240Leu) c.689A>T (p.Gln230Leu) c.680A>T (p.Gln227Leu) c.506A>T (p.Gln169Leu) c.1055A>T (p.Gln352Leu) c.1046A>T (p.Gln349Leu) c.620A>T (p.Gln207Leu) c.848A>T (p.Gln283Leu) | |
15 | g.44669403T>C | CA392241773 | PATL2 | c.941A>G (p.Gln314Arg) c.374A>G (p.Gln125Arg) c.932A>G (p.Gln311Arg) c.719A>G (p.Gln240Arg) c.689A>G (p.Gln230Arg) c.680A>G (p.Gln227Arg) c.506A>G (p.Gln169Arg) c.1055A>G (p.Gln352Arg) c.1046A>G (p.Gln349Arg) c.620A>G (p.Gln207Arg) c.848A>G (p.Gln283Arg) | dbSNP gnomAD v2 |
15 | g.44669403T>G | CA392241775 | PATL2 | c.941A>C (p.Gln314Pro) c.374A>C (p.Gln125Pro) c.932A>C (p.Gln311Pro) c.719A>C (p.Gln240Pro) c.689A>C (p.Gln230Pro) c.680A>C (p.Gln227Pro) c.506A>C (p.Gln169Pro) c.1055A>C (p.Gln352Pro) c.1046A>C (p.Gln349Pro) c.620A>C (p.Gln207Pro) c.848A>C (p.Gln283Pro) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.44669403T= | CA2173726766 | PATL2 | c.941A= (p.Gln314=) c.374A= (p.Gln125=) c.932A= (p.Gln311=) c.719A= (p.Gln240=) c.689A= (p.Gln230=) c.680A= (p.Gln227=) c.506A= (p.Gln169=) c.1055A= (p.Gln352=) c.1046A= (p.Gln349=) c.620A= (p.Gln207=) c.848A= (p.Gln283=) | |
15 | g.44669404G>A | CA392241778 | PATL2 | c.940C>T (p.Gln314Ter) c.373C>T (p.Gln125Ter) c.931C>T (p.Gln311Ter) c.718C>T (p.Gln240Ter) c.688C>T (p.Gln230Ter) c.679C>T (p.Gln227Ter) c.505C>T (p.Gln169Ter) c.1054C>T (p.Gln352Ter) c.1045C>T (p.Gln349Ter) c.619C>T (p.Gln207Ter) c.847C>T (p.Gln283Ter) |