| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102208210G>A | CA117487 | RRM2B | c.979C>T (p.Arg327Ter) n.366C>T c.823C>T (p.Arg275Ter) c.343C>T (p.Arg115Ter) c.124C>T (p.Arg42Ter) c.1148C>T c.312C>T (n.312C>T) c.817C>T (p.Arg273Ter) c.1195C>T (p.Arg399Ter) | ClinVar dbSNP COSMIC |
| 8 | g.102208210G>C | CA371585801 | RRM2B | c.979C>G (p.Arg327Gly) n.366C>G c.823C>G (p.Arg275Gly) c.343C>G (p.Arg115Gly) c.124C>G (p.Arg42Gly) c.1148C>G c.312C>G (n.312C>G) c.817C>G (p.Arg273Gly) c.1195C>G (p.Arg399Gly) | |
| 8 | g.102208210G= | CA1806674678 | RRM2B | c.979C= (p.Arg327=) n.366C= c.823C= (p.Arg275=) c.343C= (p.Arg115=) c.124C= (p.Arg42=) c.1148C= c.312C= (n.312C=) c.817C= (p.Arg273=) c.1195C= (p.Arg399=) | |
| 8 | g.102208210G>T | CA462123788 | RRM2B | c.979C>A (p.Arg327=) n.366C>A c.823C>A (p.Arg275=) c.343C>A (p.Arg115=) c.124C>A (p.Arg42=) c.1148C>A c.312C>A (n.312C>A) c.817C>A (p.Arg273=) c.1195C>A (p.Arg399=) | |
| 8 | g.102208211T>A | CA371585822 | RRM2B | c.978A>T (p.Lys326Asn) n.365A>T c.822A>T (p.Lys274Asn) c.342A>T (p.Lys114Asn) c.123A>T (p.Lys41Asn) c.1147A>T c.311A>T (n.311A>T) c.816A>T (p.Lys272Asn) c.1194A>T (p.Lys398Asn) | |
| 8 | g.102208211T>C | CA462123790 | RRM2B | c.978A>G (p.Lys326=) n.365A>G c.822A>G (p.Lys274=) c.342A>G (p.Lys114=) c.123A>G (p.Lys41=) c.1147A>G c.311A>G (n.311A>G) c.816A>G (p.Lys272=) c.1194A>G (p.Lys398=) | |
| 8 | g.102208211T>G | CA371585830 | RRM2B | c.978A>C (p.Lys326Asn) n.365A>C c.822A>C (p.Lys274Asn) c.342A>C (p.Lys114Asn) c.123A>C (p.Lys41Asn) c.1147A>C c.311A>C (n.311A>C) c.816A>C (p.Lys272Asn) c.1194A>C (p.Lys398Asn) | |
| 8 | g.102208212T>A | CA371585834 | RRM2B | c.977A>T (p.Lys326Ile) n.364A>T c.821A>T (p.Lys274Ile) c.341A>T (p.Lys114Ile) c.122A>T (p.Lys41Ile) c.1146A>T c.310A>T (n.310A>T) c.815A>T (p.Lys272Ile) c.1193A>T (p.Lys398Ile) | |
| 8 | g.102208212T>C | CA371585837 | RRM2B | c.977A>G (p.Lys326Arg) n.364A>G c.821A>G (p.Lys274Arg) c.341A>G (p.Lys114Arg) c.122A>G (p.Lys41Arg) c.1146A>G c.310A>G (n.310A>G) c.815A>G (p.Lys272Arg) c.1193A>G (p.Lys398Arg) | |
| 8 | g.102208212T>G | CA371585840 | RRM2B | c.977A>C (p.Lys326Thr) n.364A>C c.821A>C (p.Lys274Thr) c.341A>C (p.Lys114Thr) c.122A>C (p.Lys41Thr) c.1146A>C c.310A>C (n.310A>C) c.815A>C (p.Lys272Thr) c.1193A>C (p.Lys398Thr) | |
| 8 | g.102208213T>A | CA371585841 | RRM2B | c.976A>T (p.Lys326Ter) n.363A>T c.820A>T (p.Lys274Ter) c.340A>T (p.Lys114Ter) c.121A>T (p.Lys41Ter) c.1145A>T c.309A>T (n.309A>T) c.814A>T (p.Lys272Ter) c.1192A>T (p.Lys398Ter) | |
| 8 | g.102208213T>C | CA371585842 | RRM2B | c.976A>G (p.Lys326Glu) n.363A>G c.820A>G (p.Lys274Glu) c.340A>G (p.Lys114Glu) c.121A>G (p.Lys41Glu) c.1145A>G c.309A>G (n.309A>G) c.814A>G (p.Lys272Glu) c.1192A>G (p.Lys398Glu) | |
| 8 | g.102208213T>G | CA371585846 | RRM2B | c.976A>C (p.Lys326Gln) n.363A>C c.820A>C (p.Lys274Gln) c.340A>C (p.Lys114Gln) c.121A>C (p.Lys41Gln) c.1145A>C c.309A>C (n.309A>C) c.814A>C (p.Lys272Gln) c.1192A>C (p.Lys398Gln) | |
| 8 | g.102208214C>A | CA371585862 | RRM2B | c.975G>T (p.Glu325Asp) n.362G>T c.819G>T (p.Glu273Asp) c.339G>T (p.Glu113Asp) c.120G>T (p.Glu40Asp) c.1144G>T c.308G>T (n.308G>T) c.813G>T (p.Glu271Asp) c.1191G>T (p.Glu397Asp) | |
| 8 | g.102208214C>G | CA371585866 | RRM2B | c.975G>C (p.Glu325Asp) n.362G>C c.819G>C (p.Glu273Asp) c.339G>C (p.Glu113Asp) c.120G>C (p.Glu40Asp) c.1144G>C c.308G>C (n.308G>C) c.813G>C (p.Glu271Asp) c.1191G>C (p.Glu397Asp) | |
| 8 | g.102208214C>T | CA462123793 | RRM2B | c.975G>A (p.Glu325=) n.362G>A c.819G>A (p.Glu273=) c.339G>A (p.Glu113=) c.120G>A (p.Glu40=) c.1144G>A c.308G>A (n.308G>A) c.813G>A (p.Glu271=) c.1191G>A (p.Glu397=) | dbSNP COSMIC |
| 8 | g.102208215T>A | CA371585886 | RRM2B | c.974A>T (p.Glu325Val) n.361A>T c.818A>T (p.Glu273Val) c.338A>T (p.Glu113Val) c.119A>T (p.Glu40Val) c.1143A>T c.307A>T (n.307A>T) c.812A>T (p.Glu271Val) c.1190A>T (p.Glu397Val) | |
| 8 | g.102208215T>C | CA371585889 | RRM2B | c.974A>G (p.Glu325Gly) n.361A>G c.818A>G (p.Glu273Gly) c.338A>G (p.Glu113Gly) c.119A>G (p.Glu40Gly) c.1143A>G c.307A>G (n.307A>G) c.812A>G (p.Glu271Gly) c.1190A>G (p.Glu397Gly) | |
| 8 | g.102208215T>G | CA371585896 | RRM2B | c.974A>C (p.Glu325Ala) n.361A>C c.818A>C (p.Glu273Ala) c.338A>C (p.Glu113Ala) c.119A>C (p.Glu40Ala) c.1143A>C c.307A>C (n.307A>C) c.812A>C (p.Glu271Ala) c.1190A>C (p.Glu397Ala) | |
| 8 | g.102208215_102208217del | CA2559262303 | RRM2B | c.972_974del (p.Phe324_Glu325delinsLeu) n.359_361del c.816_818del (p.Phe272_Glu273delinsLeu) c.336_338del (p.Phe112_Glu113delinsLeu) c.117_119del (p.Phe39_Glu40delinsLeu) c.1141_1143del c.305_307del (n.305_307del) c.810_812del (p.Phe270_Glu271delinsLeu) c.1188_1190del (p.Phe396_Glu397delinsLeu) | |
| 8 | g.102208216C>A | CA371585903 | RRM2B | c.973G>T (p.Glu325Ter) n.360G>T c.817G>T (p.Glu273Ter) c.337G>T (p.Glu113Ter) c.118G>T (p.Glu40Ter) c.1142G>T c.306G>T (n.306G>T) c.811G>T (p.Glu271Ter) c.1189G>T (p.Glu397Ter) | gnomAD v4 |
| 8 | g.102208216C>G | CA371585904 | RRM2B | c.973G>C (p.Glu325Gln) n.360G>C c.817G>C (p.Glu273Gln) c.337G>C (p.Glu113Gln) c.118G>C (p.Glu40Gln) c.1142G>C c.306G>C (n.306G>C) c.811G>C (p.Glu271Gln) c.1189G>C (p.Glu397Gln) | |
| 8 | g.102208216C>T | CA371585902 | RRM2B | c.973G>A (p.Glu325Lys) n.360G>A c.817G>A (p.Glu273Lys) c.337G>A (p.Glu113Lys) c.118G>A (p.Glu40Lys) c.1142G>A c.306G>A (n.306G>A) c.811G>A (p.Glu271Lys) c.1189G>A (p.Glu397Lys) | |
| 8 | g.102208217A= | CA1806674679 | RRM2B | c.972T= (p.Phe324=) n.359T= c.816T= (p.Phe272=) c.336T= (p.Phe112=) c.117T= (p.Phe39=) c.1141T= c.305T= (n.305T=) c.810T= (p.Phe270=) c.1188T= (p.Phe396=) | |
| 8 | g.102208217A>C | CA371585911 | RRM2B | c.972T>G (p.Phe324Leu) n.359T>G c.816T>G (p.Phe272Leu) c.336T>G (p.Phe112Leu) c.117T>G (p.Phe39Leu) c.1141T>G c.305T>G (n.305T>G) c.810T>G (p.Phe270Leu) c.1188T>G (p.Phe396Leu) | |
| 8 | g.102208217A>G | CA182464187 | RRM2B | c.972T>C (p.Phe324=) n.359T>C c.816T>C (p.Phe272=) c.336T>C (p.Phe112=) c.117T>C (p.Phe39=) c.1141T>C c.305T>C (n.305T>C) c.810T>C (p.Phe270=) c.1188T>C (p.Phe396=) | dbSNP |
| 8 | g.102208217A>T | CA371585908 | RRM2B | c.972T>A (p.Phe324Leu) n.359T>A c.816T>A (p.Phe272Leu) c.336T>A (p.Phe112Leu) c.117T>A (p.Phe39Leu) c.1141T>A c.305T>A (n.305T>A) c.810T>A (p.Phe270Leu) c.1188T>A (p.Phe396Leu) | |
| 8 | g.102208218A= | CA1806674680 | RRM2B | c.971T= (p.Phe324=) n.358T= c.815T= (p.Phe272=) c.335T= (p.Phe112=) c.116T= (p.Phe39=) c.1140T= c.304T= (n.304T=) c.809T= (p.Phe270=) c.1187T= (p.Phe396=) | |
| 8 | g.102208218A>C | CA371585919 | RRM2B | c.971T>G (p.Phe324Cys) n.358T>G c.815T>G (p.Phe272Cys) c.335T>G (p.Phe112Cys) c.116T>G (p.Phe39Cys) c.1140T>G c.304T>G (n.304T>G) c.809T>G (p.Phe270Cys) c.1187T>G (p.Phe396Cys) | |
| 8 | g.102208218A>G | CA371585925 | RRM2B | c.971T>C (p.Phe324Ser) n.358T>C c.815T>C (p.Phe272Ser) c.335T>C (p.Phe112Ser) c.116T>C (p.Phe39Ser) c.1140T>C c.304T>C (n.304T>C) c.809T>C (p.Phe270Ser) c.1187T>C (p.Phe396Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208218A>T | CA371585926 | RRM2B | c.971T>A (p.Phe324Tyr) n.358T>A c.815T>A (p.Phe272Tyr) c.335T>A (p.Phe112Tyr) c.116T>A (p.Phe39Tyr) c.1140T>A c.304T>A (n.304T>A) c.809T>A (p.Phe270Tyr) c.1187T>A (p.Phe396Tyr) | |
| 8 | g.102208219A>C | CA371585930 | RRM2B | c.970T>G (p.Phe324Val) n.357T>G c.814T>G (p.Phe272Val) c.334T>G (p.Phe112Val) c.115T>G (p.Phe39Val) c.1139T>G c.303T>G (n.303T>G) c.808T>G (p.Phe270Val) c.1186T>G (p.Phe396Val) | |
| 8 | g.102208219A>G | CA371585934 | RRM2B | c.970T>C (p.Phe324Leu) n.357T>C c.814T>C (p.Phe272Leu) c.334T>C (p.Phe112Leu) c.115T>C (p.Phe39Leu) c.1139T>C c.303T>C (n.303T>C) c.808T>C (p.Phe270Leu) c.1186T>C (p.Phe396Leu) | |
| 8 | g.102208219A>T | CA371585952 | RRM2B | c.970T>A (p.Phe324Ile) n.357T>A c.814T>A (p.Phe272Ile) c.334T>A (p.Phe112Ile) c.115T>A (p.Phe39Ile) c.1139T>A c.303T>A (n.303T>A) c.808T>A (p.Phe270Ile) c.1186T>A (p.Phe396Ile) | |
| 8 | g.102208220G>A | CA462123806 | RRM2B | c.969C>T (p.Phe323=) n.356C>T c.813C>T (p.Phe271=) c.333C>T (p.Phe111=) c.114C>T (p.Phe38=) c.1138C>T c.302C>T (n.302C>T) c.807C>T (p.Phe269=) c.1185C>T (p.Phe395=) | |
| 8 | g.102208220G>C | CA371585960 | RRM2B | c.969C>G (p.Phe323Leu) n.356C>G c.813C>G (p.Phe271Leu) c.333C>G (p.Phe111Leu) c.114C>G (p.Phe38Leu) c.1138C>G c.302C>G (n.302C>G) c.807C>G (p.Phe269Leu) c.1185C>G (p.Phe395Leu) | COSMIC |
| 8 | g.102208220G>T | CA371585964 | RRM2B | c.969C>A (p.Phe323Leu) n.356C>A c.813C>A (p.Phe271Leu) c.333C>A (p.Phe111Leu) c.114C>A (p.Phe38Leu) c.1138C>A c.302C>A (n.302C>A) c.807C>A (p.Phe269Leu) c.1185C>A (p.Phe395Leu) | gnomAD v4 COSMIC |
| 8 | g.102208220_102208221insT | CA2504853802 | RRM2B | c.968_969insA (p.Phe323LeufsTer3) n.355_356insA c.812_813insA (p.Phe271LeufsTer3) c.332_333insA (p.Phe111LeufsTer3) c.113_114insA (p.Phe38LeufsTer3) c.1137_1138insA c.301_302insA (n.301_302insA) c.806_807insA (p.Phe269LeufsTer3) c.1184_1185insA (p.Phe395LeufsTer3) | |
| 8 | g.102208221A>C | CA371585977 | RRM2B | c.968T>G (p.Phe323Cys) n.355T>G c.812T>G (p.Phe271Cys) c.332T>G (p.Phe111Cys) c.113T>G (p.Phe38Cys) c.1137T>G c.301T>G (n.301T>G) c.806T>G (p.Phe269Cys) c.1184T>G (p.Phe395Cys) | |
| 8 | g.102208221A>G | CA371585983 | RRM2B | c.968T>C (p.Phe323Ser) n.355T>C c.812T>C (p.Phe271Ser) c.332T>C (p.Phe111Ser) c.113T>C (p.Phe38Ser) c.1137T>C c.301T>C (n.301T>C) c.806T>C (p.Phe269Ser) c.1184T>C (p.Phe395Ser) | |
| 8 | g.102208221A>T | CA371585993 | RRM2B | c.968T>A (p.Phe323Tyr) n.355T>A c.812T>A (p.Phe271Tyr) c.332T>A (p.Phe111Tyr) c.113T>A (p.Phe38Tyr) c.1137T>A c.301T>A (n.301T>A) c.806T>A (p.Phe269Tyr) c.1184T>A (p.Phe395Tyr) | |
| 8 | g.102208222A>C | CA371586000 | RRM2B | c.967T>G (p.Phe323Val) n.354T>G c.811T>G (p.Phe271Val) c.331T>G (p.Phe111Val) c.112T>G (p.Phe38Val) c.1136T>G c.300T>G (n.300T>G) c.805T>G (p.Phe269Val) c.1183T>G (p.Phe395Val) | |
| 8 | g.102208222A>G | CA371586004 | RRM2B | c.967T>C (p.Phe323Leu) n.354T>C c.811T>C (p.Phe271Leu) c.331T>C (p.Phe111Leu) c.112T>C (p.Phe38Leu) c.1136T>C c.300T>C (n.300T>C) c.805T>C (p.Phe269Leu) c.1183T>C (p.Phe395Leu) | |
| 8 | g.102208222A>T | CA371585996 | RRM2B | c.967T>A (p.Phe323Ile) n.354T>A c.811T>A (p.Phe271Ile) c.331T>A (p.Phe111Ile) c.112T>A (p.Phe38Ile) c.1136T>A c.300T>A (n.300T>A) c.805T>A (p.Phe269Ile) c.1183T>A (p.Phe395Ile) | |
| 8 | g.102208223A= | CA1806674681 | RRM2B | c.966T= (p.Asn322=) n.353T= c.810T= (p.Asn270=) c.330T= (p.Asn110=) c.111T= (p.Asn37=) c.1135T= c.299T= (n.299T=) c.804T= (p.Asn268=) c.1182T= (p.Asn394=) | |
| 8 | g.102208223A>C | CA371586012 | RRM2B | c.966T>G (p.Asn322Lys) n.353T>G c.810T>G (p.Asn270Lys) c.330T>G (p.Asn110Lys) c.111T>G (p.Asn37Lys) c.1135T>G c.299T>G (n.299T>G) c.804T>G (p.Asn268Lys) c.1182T>G (p.Asn394Lys) | |
| 8 | g.102208223A>G | CA462123817 | RRM2B | c.966T>C (p.Asn322=) n.353T>C c.810T>C (p.Asn270=) c.330T>C (p.Asn110=) c.111T>C (p.Asn37=) c.1135T>C c.299T>C (n.299T>C) c.804T>C (p.Asn268=) c.1182T>C (p.Asn394=) | |
| 8 | g.102208223A>T | CA371586017 | RRM2B | c.966T>A (p.Asn322Lys) n.353T>A c.810T>A (p.Asn270Lys) c.330T>A (p.Asn110Lys) c.111T>A (p.Asn37Lys) c.1135T>A c.299T>A (n.299T>A) c.804T>A (p.Asn268Lys) c.1182T>A (p.Asn394Lys) | |
| 8 | g.102208224T>A | CA371586022 | RRM2B | c.965A>T (p.Asn322Ile) n.352A>T c.809A>T (p.Asn270Ile) c.329A>T (p.Asn110Ile) c.110A>T (p.Asn37Ile) c.1134A>T c.298A>T (n.298A>T) c.803A>T (p.Asn268Ile) c.1181A>T (p.Asn394Ile) | |
| 8 | g.102208224T>C | CA371586023 | RRM2B | c.965A>G (p.Asn322Ser) n.352A>G c.809A>G (p.Asn270Ser) c.329A>G (p.Asn110Ser) c.110A>G (p.Asn37Ser) c.1134A>G c.298A>G (n.298A>G) c.803A>G (p.Asn268Ser) c.1181A>G (p.Asn394Ser) |