UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 8 | g.102208224T>G | CA371586024 | RRM2B | c.965A>C (p.Asn322Thr) n.352A>C c.809A>C (p.Asn270Thr) c.329A>C (p.Asn110Thr) c.110A>C (p.Asn37Thr) c.1134A>C c.298A>C (n.298A>C) c.803A>C (p.Asn268Thr) c.1181A>C (p.Asn394Thr) | |
| 8 | g.102208226dup | CA213027 | RRM2B | c.965dup (p.Asn322LysfsTer4) n.352dup c.809dup (p.Asn270LysfsTer4) c.329dup (p.Asn110LysfsTer4) c.110dup (p.Asn37LysfsTer4) c.1134dup c.298dup (n.298dup) c.803dup (p.Asn268LysfsTer4) c.1181dup (p.Asn394LysfsTer4) | ClinVar dbSNP |
| 8 | g.102208227_102208230del | CA2688143447 | RRM2B | c.962_965del (p.Thr321IlefsTer?) n.349_352del c.806_809del (p.Thr269IlefsTer?) c.326_329del (p.Thr109IlefsTer?) c.107_110del (p.Thr36IlefsTer?) c.1131_1134del c.295_298del (n.295_298del) c.800_803del (p.Thr267IlefsTer?) c.1178_1181del (p.Thr393IlefsTer?) | gnomAD v4 |
| 8 | g.102208225T>A | CA371586039 | RRM2B | c.964A>T (p.Asn322Tyr) n.351A>T c.808A>T (p.Asn270Tyr) c.328A>T (p.Asn110Tyr) c.109A>T (p.Asn37Tyr) c.1133A>T c.297A>T (n.297A>T) c.802A>T (p.Asn268Tyr) c.1180A>T (p.Asn394Tyr) | |
| 8 | g.102208225T>C | CA371586028 | RRM2B | c.964A>G (p.Asn322Asp) n.351A>G c.808A>G (p.Asn270Asp) c.328A>G (p.Asn110Asp) c.109A>G (p.Asn37Asp) c.1133A>G c.297A>G (n.297A>G) c.802A>G (p.Asn268Asp) c.1180A>G (p.Asn394Asp) | |
| 8 | g.102208225T>G | CA371586031 | RRM2B | c.964A>C (p.Asn322His) n.351A>C c.808A>C (p.Asn270His) c.328A>C (p.Asn110His) c.109A>C (p.Asn37His) c.1133A>C c.297A>C (n.297A>C) c.802A>C (p.Asn268His) c.1180A>C (p.Asn394His) | |
| 8 | g.102208226T>A | CA462123835 | RRM2B | c.963A>T (p.Thr321=) n.350A>T c.807A>T (p.Thr269=) c.327A>T (p.Thr109=) c.108A>T (p.Thr36=) c.1132A>T c.296A>T (n.296A>T) c.801A>T (p.Thr267=) c.1179A>T (p.Thr393=) | |
| 8 | g.102208226T>C | CA462123836 | RRM2B | c.963A>G (p.Thr321=) n.350A>G c.807A>G (p.Thr269=) c.327A>G (p.Thr109=) c.108A>G (p.Thr36=) c.1132A>G c.296A>G (n.296A>G) c.801A>G (p.Thr267=) c.1179A>G (p.Thr393=) | |
| 8 | g.102208226T>G | CA462123837 | RRM2B | c.963A>C (p.Thr321=) n.350A>C c.807A>C (p.Thr269=) c.327A>C (p.Thr109=) c.108A>C (p.Thr36=) c.1132A>C c.296A>C (n.296A>C) c.801A>C (p.Thr267=) c.1179A>C (p.Thr393=) | |
| 8 | g.102208226_102208227delinsTG | CA1806674682 | RRM2B | c.962_963delinsCA (p.Thr321=) n.349_350delinsCA c.806_807delinsCA (p.Thr269=) c.326_327delinsCA (p.Thr109=) c.107_108delinsCA (p.Thr36=) c.1131_1132delinsCA c.295_296delinsCA (n.295_296delinsCA) c.800_801delinsCA (p.Thr267=) c.1178_1179delinsCA (p.Thr393=) | |
| 8 | g.102208227del | CA583906539 | RRM2B | c.962del (p.Thr321LysfsTer?) n.349del c.806del (p.Thr269LysfsTer?) c.326del (p.Thr109LysfsTer?) c.107del (p.Thr36LysfsTer?) c.1131del c.295del (n.295del) c.800del (p.Thr267LysfsTer?) c.1178del (p.Thr393LysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208227G>A | CA371586051 | RRM2B | c.962C>T (p.Thr321Ile) n.349C>T c.806C>T (p.Thr269Ile) c.326C>T (p.Thr109Ile) c.107C>T (p.Thr36Ile) c.1131C>T c.295C>T (n.295C>T) c.800C>T (p.Thr267Ile) c.1178C>T (p.Thr393Ile) | |
| 8 | g.102208227G>C | CA371586055 | RRM2B | c.962C>G (p.Thr321Arg) n.349C>G c.806C>G (p.Thr269Arg) c.326C>G (p.Thr109Arg) c.107C>G (p.Thr36Arg) c.1131C>G c.295C>G (n.295C>G) c.800C>G (p.Thr267Arg) c.1178C>G (p.Thr393Arg) | |
| 8 | g.102208227G>T | CA371586057 | RRM2B | c.962C>A (p.Thr321Lys) n.349C>A c.806C>A (p.Thr269Lys) c.326C>A (p.Thr109Lys) c.107C>A (p.Thr36Lys) c.1131C>A c.295C>A (n.295C>A) c.800C>A (p.Thr267Lys) c.1178C>A (p.Thr393Lys) | |
| 8 | g.102208227_102208239del | CA2565827477 | RRM2B | c.950_962del (p.Leu317Ter) n.337_349del c.794_806del (p.Leu265Ter) c.314_326del (p.Leu105Ter) c.95_107del (p.Leu32Ter) c.1119_1131del c.283_295del (n.283_295del) c.788_800del (p.Leu263Ter) c.1166_1178del (p.Leu389Ter) | |
| 8 | g.102208228T>A | CA371586059 | RRM2B | c.961A>T (p.Thr321Ser) n.348A>T c.805A>T (p.Thr269Ser) c.325A>T (p.Thr109Ser) c.106A>T (p.Thr36Ser) c.1130A>T c.294A>T (n.294A>T) c.799A>T (p.Thr267Ser) c.1177A>T (p.Thr393Ser) | |
| 8 | g.102208228T>C | CA371586061 | RRM2B | c.961A>G (p.Thr321Ala) n.348A>G c.805A>G (p.Thr269Ala) c.325A>G (p.Thr109Ala) c.106A>G (p.Thr36Ala) c.1130A>G c.294A>G (n.294A>G) c.799A>G (p.Thr267Ala) c.1177A>G (p.Thr393Ala) | |
| 8 | g.102208228T>G | CA371586065 | RRM2B | c.961A>C (p.Thr321Pro) n.348A>C c.805A>C (p.Thr269Pro) c.325A>C (p.Thr109Pro) c.106A>C (p.Thr36Pro) c.1130A>C c.294A>C (n.294A>C) c.799A>C (p.Thr267Pro) c.1177A>C (p.Thr393Pro) | |
| 8 | g.102208232del | CA2688143448 | RRM2B | c.961del (p.Thr321GlnfsTer?) n.348del c.805del (p.Thr269GlnfsTer?) c.325del (p.Thr109GlnfsTer?) c.106del (p.Thr36GlnfsTer?) c.1130del c.294del (n.294del) c.799del (p.Thr267GlnfsTer?) c.1177del (p.Thr393GlnfsTer?) | gnomAD v4 |
| 8 | g.102208229T>A | CA371586067 | RRM2B | c.960A>T (p.Lys320Asn) n.347A>T c.804A>T (p.Lys268Asn) c.324A>T (p.Lys108Asn) c.105A>T (p.Lys35Asn) c.1129A>T c.293A>T (n.293A>T) c.798A>T (p.Lys266Asn) c.1176A>T (p.Lys392Asn) | |
| 8 | g.102208229T>C | CA462123856 | RRM2B | c.960A>G (p.Lys320=) n.347A>G c.804A>G (p.Lys268=) c.324A>G (p.Lys108=) c.105A>G (p.Lys35=) c.1129A>G c.293A>G (n.293A>G) c.798A>G (p.Lys266=) c.1176A>G (p.Lys392=) | |
| 8 | g.102208229T>G | CA371586072 | RRM2B | c.960A>C (p.Lys320Asn) n.347A>C c.804A>C (p.Lys268Asn) c.324A>C (p.Lys108Asn) c.105A>C (p.Lys35Asn) c.1129A>C c.293A>C (n.293A>C) c.798A>C (p.Lys266Asn) c.1176A>C (p.Lys392Asn) | |
| 8 | g.102208230T>A | CA371586075 | RRM2B | c.959A>T (p.Lys320Ile) n.346A>T c.803A>T (p.Lys268Ile) c.323A>T (p.Lys108Ile) c.104A>T (p.Lys35Ile) c.1128A>T c.292A>T (n.292A>T) c.797A>T (p.Lys266Ile) c.1175A>T (p.Lys392Ile) | |
| 8 | g.102208230T>C | CA371586077 | RRM2B | c.959A>G (p.Lys320Arg) n.346A>G c.803A>G (p.Lys268Arg) c.323A>G (p.Lys108Arg) c.104A>G (p.Lys35Arg) c.1128A>G c.292A>G (n.292A>G) c.797A>G (p.Lys266Arg) c.1175A>G (p.Lys392Arg) | |
| 8 | g.102208230T>G | CA371586080 | RRM2B | c.959A>C (p.Lys320Thr) n.346A>C c.803A>C (p.Lys268Thr) c.323A>C (p.Lys108Thr) c.104A>C (p.Lys35Thr) c.1128A>C c.292A>C (n.292A>C) c.797A>C (p.Lys266Thr) c.1175A>C (p.Lys392Thr) | |
| 8 | g.102208231T>A | CA371586085 | RRM2B | c.958A>T (p.Lys320Ter) n.345A>T c.802A>T (p.Lys268Ter) c.322A>T (p.Lys108Ter) c.103A>T (p.Lys35Ter) c.1127A>T c.291A>T (n.291A>T) c.796A>T (p.Lys266Ter) c.1174A>T (p.Lys392Ter) | |
| 8 | g.102208231T>C | CA371586092 | RRM2B | c.958A>G (p.Lys320Glu) n.345A>G c.802A>G (p.Lys268Glu) c.322A>G (p.Lys108Glu) c.103A>G (p.Lys35Glu) c.1127A>G c.291A>G (n.291A>G) c.796A>G (p.Lys266Glu) c.1174A>G (p.Lys392Glu) | |
| 8 | g.102208231T>G | CA371586096 | RRM2B | c.958A>C (p.Lys320Gln) n.345A>C c.802A>C (p.Lys268Gln) c.322A>C (p.Lys108Gln) c.103A>C (p.Lys35Gln) c.1127A>C c.291A>C (n.291A>C) c.796A>C (p.Lys266Gln) c.1174A>C (p.Lys392Gln) | |
| 8 | g.102208232T>A | CA462123867 | RRM2B | c.957A>T (p.Gly319=) n.344A>T c.801A>T (p.Gly267=) c.321A>T (p.Gly107=) c.102A>T (p.Gly34=) c.1126A>T c.290A>T (n.290A>T) c.795A>T (p.Gly265=) c.1173A>T (p.Gly391=) | |
| 8 | g.102208232T>C | CA4830959 | RRM2B | c.957A>G (p.Gly319=) n.344A>G c.801A>G (p.Gly267=) c.321A>G (p.Gly107=) c.102A>G (p.Gly34=) c.1126A>G c.290A>G (n.290A>G) c.795A>G (p.Gly265=) c.1173A>G (p.Gly391=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208232T>G | CA462123874 | RRM2B | c.957A>C (p.Gly319=) n.344A>C c.801A>C (p.Gly267=) c.321A>C (p.Gly107=) c.102A>C (p.Gly34=) c.1126A>C c.290A>C (n.290A>C) c.795A>C (p.Gly265=) c.1173A>C (p.Gly391=) | dbSNP |
| 8 | g.102208232T= | CA1806674683 | RRM2B | c.957A= (p.Gly319=) n.344A= c.801A= (p.Gly267=) c.321A= (p.Gly107=) c.102A= (p.Gly34=) c.1126A= c.290A= (n.290A=) c.795A= (p.Gly265=) c.1173A= (p.Gly391=) | |
| 8 | g.102208233C>A | CA371586116 | RRM2B | c.956G>T (p.Gly319Val) n.343G>T c.800G>T (p.Gly267Val) c.320G>T (p.Gly107Val) c.101G>T (p.Gly34Val) c.1125G>T c.289G>T (n.289G>T) c.794G>T (p.Gly265Val) c.1172G>T (p.Gly391Val) | |
| 8 | g.102208233C= | CA1806674684 | RRM2B | c.956G= (p.Gly319=) n.343G= c.800G= (p.Gly267=) c.320G= (p.Gly107=) c.101G= (p.Gly34=) c.1125G= c.289G= (n.289G=) c.794G= (p.Gly265=) c.1172G= (p.Gly391=) | |
| 8 | g.102208233C>G | CA4830960 | RRM2B | c.956G>C (p.Gly319Ala) n.343G>C c.800G>C (p.Gly267Ala) c.320G>C (p.Gly107Ala) c.101G>C (p.Gly34Ala) c.1125G>C c.289G>C (n.289G>C) c.794G>C (p.Gly265Ala) c.1172G>C (p.Gly391Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102208233C>T | CA371586120 | RRM2B | c.956G>A (p.Gly319Glu) n.343G>A c.800G>A (p.Gly267Glu) c.320G>A (p.Gly107Glu) c.101G>A (p.Gly34Glu) c.1125G>A c.289G>A (n.289G>A) c.794G>A (p.Gly265Glu) c.1172G>A (p.Gly391Glu) | |
| 8 | g.102208234C>A | CA371586124 | RRM2B | c.955G>T (p.Gly319Ter) n.342G>T c.799G>T (p.Gly267Ter) c.319G>T (p.Gly107Ter) c.100G>T (p.Gly34Ter) c.1124G>T c.288G>T (n.288G>T) c.793G>T (p.Gly265Ter) c.1171G>T (p.Gly391Ter) | |
| 8 | g.102208234C>G | CA371586129 | RRM2B | c.955G>C (p.Gly319Arg) n.342G>C c.799G>C (p.Gly267Arg) c.319G>C (p.Gly107Arg) c.100G>C (p.Gly34Arg) c.1124G>C c.288G>C (n.288G>C) c.793G>C (p.Gly265Arg) c.1171G>C (p.Gly391Arg) | |
| 8 | g.102208234C>T | CA371586131 | RRM2B | c.955G>A (p.Gly319Arg) n.342G>A c.799G>A (p.Gly267Arg) c.319G>A (p.Gly107Arg) c.100G>A (p.Gly34Arg) c.1124G>A c.288G>A (n.288G>A) c.793G>A (p.Gly265Arg) c.1171G>A (p.Gly391Arg) | |
| 8 | g.102208235T>A | CA371586136 | RRM2B | c.954A>T (p.Glu318Asp) n.341A>T c.798A>T (p.Glu266Asp) c.318A>T (p.Glu106Asp) c.99A>T (p.Glu33Asp) c.1123A>T c.287A>T (n.287A>T) c.792A>T (p.Glu264Asp) c.1170A>T (p.Glu390Asp) | |
| 8 | g.102208235T>C | CA462123884 | RRM2B | c.954A>G (p.Glu318=) n.341A>G c.798A>G (p.Glu266=) c.318A>G (p.Glu106=) c.99A>G (p.Glu33=) c.1123A>G c.287A>G (n.287A>G) c.792A>G (p.Glu264=) c.1170A>G (p.Glu390=) | |
| 8 | g.102208235T>G | CA371586133 | RRM2B | c.954A>C (p.Glu318Asp) n.341A>C c.798A>C (p.Glu266Asp) c.318A>C (p.Glu106Asp) c.99A>C (p.Glu33Asp) c.1123A>C c.287A>C (n.287A>C) c.792A>C (p.Glu264Asp) c.1170A>C (p.Glu390Asp) | |
| 8 | g.102208236T>A | CA371586141 | RRM2B | c.953A>T (p.Glu318Val) n.340A>T c.797A>T (p.Glu266Val) c.317A>T (p.Glu106Val) c.98A>T (p.Glu33Val) c.1122A>T c.286A>T (n.286A>T) c.791A>T (p.Glu264Val) c.1169A>T (p.Glu390Val) | |
| 8 | g.102208236T>C | CA371586145 | RRM2B | c.953A>G (p.Glu318Gly) n.340A>G c.797A>G (p.Glu266Gly) c.317A>G (p.Glu106Gly) c.98A>G (p.Glu33Gly) c.1122A>G c.286A>G (n.286A>G) c.791A>G (p.Glu264Gly) c.1169A>G (p.Glu390Gly) | |
| 8 | g.102208236T>G | CA371586148 | RRM2B | c.953A>C (p.Glu318Ala) n.340A>C c.797A>C (p.Glu266Ala) c.317A>C (p.Glu106Ala) c.98A>C (p.Glu33Ala) c.1122A>C c.286A>C (n.286A>C) c.791A>C (p.Glu264Ala) c.1169A>C (p.Glu390Ala) | |
| 8 | g.102208237C>A | CA345622 | RRM2B | c.952G>T (p.Glu318Ter) n.339G>T c.796G>T (p.Glu266Ter) c.316G>T (p.Glu106Ter) c.97G>T (p.Glu33Ter) c.1121G>T c.285G>T (n.285G>T) c.790G>T (p.Glu264Ter) c.1168G>T (p.Glu390Ter) | ClinVar dbSNP |
| 8 | g.102208237C= | CA1806674685 | RRM2B | c.952G= (p.Glu318=) n.339G= c.796G= (p.Glu266=) c.316G= (p.Glu106=) c.97G= (p.Glu33=) c.1121G= c.285G= (n.285G=) c.790G= (p.Glu264=) c.1168G= (p.Glu390=) | |
| 8 | g.102208237C>G | CA371586161 | RRM2B | c.952G>C (p.Glu318Gln) n.339G>C c.796G>C (p.Glu266Gln) c.316G>C (p.Glu106Gln) c.97G>C (p.Glu33Gln) c.1121G>C c.285G>C (n.285G>C) c.790G>C (p.Glu264Gln) c.1168G>C (p.Glu390Gln) | |
| 8 | g.102208237C>T | CA371586163 | RRM2B | c.952G>A (p.Glu318Lys) n.339G>A c.796G>A (p.Glu266Lys) c.316G>A (p.Glu106Lys) c.97G>A (p.Glu33Lys) c.1121G>A c.285G>A (n.285G>A) c.790G>A (p.Glu264Lys) c.1168G>A (p.Glu390Lys) | |
| 8 | g.102208238T>A | CA371586166 | RRM2B | c.951A>T (p.Leu317Phe) n.338A>T c.795A>T (p.Leu265Phe) c.315A>T (p.Leu105Phe) c.96A>T (p.Leu32Phe) c.1120A>T c.284A>T (n.284A>T) c.789A>T (p.Leu263Phe) c.1167A>T (p.Leu389Phe) | |
| 8 | g.102208238T>C | CA462123899 | RRM2B | c.951A>G (p.Leu317=) n.338A>G c.795A>G (p.Leu265=) c.315A>G (p.Leu105=) c.96A>G (p.Leu32=) c.1120A>G c.284A>G (n.284A>G) c.789A>G (p.Leu263=) c.1167A>G (p.Leu389=) | dbSNP |
| 8 | g.102208238T>G | CA371586173 | RRM2B | c.951A>C (p.Leu317Phe) n.338A>C c.795A>C (p.Leu265Phe) c.315A>C (p.Leu105Phe) c.96A>C (p.Leu32Phe) c.1120A>C c.284A>C (n.284A>C) c.789A>C (p.Leu263Phe) c.1167A>C (p.Leu389Phe) | |
| 8 | g.102208238_102208239delinsTA | CA1806674686 | RRM2B | c.950_951delinsTA (p.Leu317=) n.337_338delinsTA c.794_795delinsTA (p.Leu265=) c.314_315delinsTA (p.Leu105=) c.95_96delinsTA (p.Leu32=) c.1119_1120delinsTA c.283_284delinsTA (n.283_284delinsTA) c.788_789delinsTA (p.Leu263=) c.1166_1167delinsTA (p.Leu389=) | |
| 8 | g.102208239A>C | CA371586174 | RRM2B | c.950T>G (p.Leu317Ter) n.337T>G c.794T>G (p.Leu265Ter) c.314T>G (p.Leu105Ter) c.95T>G (p.Leu32Ter) c.1119T>G c.283T>G (n.283T>G) c.788T>G (p.Leu263Ter) c.1166T>G (p.Leu389Ter) | |
| 8 | g.102208239A>G | CA371586175 | RRM2B | c.950T>C (p.Leu317Ser) n.337T>C c.794T>C (p.Leu265Ser) c.314T>C (p.Leu105Ser) c.95T>C (p.Leu32Ser) c.1119T>C c.283T>C (n.283T>C) c.788T>C (p.Leu263Ser) c.1166T>C (p.Leu389Ser) | |
| 8 | g.102208239A>T | CA371586177 | RRM2B | c.950T>A (p.Leu317Ter) n.337T>A c.794T>A (p.Leu265Ter) c.314T>A (p.Leu105Ter) c.95T>A (p.Leu32Ter) c.1119T>A c.283T>A (n.283T>A) c.788T>A (p.Leu263Ter) c.1166T>A (p.Leu389Ter) | |
| 8 | g.102208241del | CA213025 | RRM2B | c.950del (p.Leu317Ter) n.337del c.794del (p.Leu265Ter) c.314del (p.Leu105Ter) c.95del (p.Leu32Ter) c.1119del c.283del (n.283del) c.788del (p.Leu263Ter) c.1166del (p.Leu389Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.102208240A= | CA1806674687 | RRM2B | c.949T= (p.Leu317=) n.336T= c.793T= (p.Leu265=) c.313T= (p.Leu105=) c.94T= (p.Leu32=) c.1118T= c.282T= (n.282T=) c.787T= (p.Leu263=) c.1165T= (p.Leu389=) | |
| 8 | g.102208240A>C | CA345618 | RRM2B | c.949T>G (p.Leu317Val) n.336T>G c.793T>G (p.Leu265Val) c.313T>G (p.Leu105Val) c.94T>G (p.Leu32Val) c.1118T>G c.282T>G (n.282T>G) c.787T>G (p.Leu263Val) c.1165T>G (p.Leu389Val) | ClinVar dbSNP |
| 8 | g.102208240A>G | CA462123904 | RRM2B | c.949T>C (p.Leu317=) n.336T>C c.793T>C (p.Leu265=) c.313T>C (p.Leu105=) c.94T>C (p.Leu32=) c.1118T>C c.282T>C (n.282T>C) c.787T>C (p.Leu263=) c.1165T>C (p.Leu389=) | |
| 8 | g.102208240A>T | CA371586180 | RRM2B | c.949T>A (p.Leu317Ile) n.336T>A c.793T>A (p.Leu265Ile) c.313T>A (p.Leu105Ile) c.94T>A (p.Leu32Ile) c.1118T>A c.282T>A (n.282T>A) c.787T>A (p.Leu263Ile) c.1165T>A (p.Leu389Ile) | |
| 8 | g.102208241A>C | CA462123907 | RRM2B | c.948T>G (p.Ser316=) n.335T>G c.792T>G (p.Ser264=) c.312T>G (p.Ser104=) c.93T>G (p.Ser31=) c.1117T>G c.281T>G (n.281T>G) c.786T>G (p.Ser262=) c.1164T>G (p.Ser388=) | |
| 8 | g.102208241A>G | CA462123908 | RRM2B | c.948T>C (p.Ser316=) n.335T>C c.792T>C (p.Ser264=) c.312T>C (p.Ser104=) c.93T>C (p.Ser31=) c.1117T>C c.281T>C (n.281T>C) c.786T>C (p.Ser262=) c.1164T>C (p.Ser388=) | |
| 8 | g.102208241A>T | CA462123910 | RRM2B | c.948T>A (p.Ser316=) n.335T>A c.792T>A (p.Ser264=) c.312T>A (p.Ser104=) c.93T>A (p.Ser31=) c.1117T>A c.281T>A (n.281T>A) c.786T>A (p.Ser262=) c.1164T>A (p.Ser388=) | |
| 8 | g.102208242G>A | CA371586182 | RRM2B | c.947C>T (p.Ser316Phe) n.334C>T c.791C>T (p.Ser264Phe) c.311C>T (p.Ser104Phe) c.92C>T (p.Ser31Phe) c.1116C>T c.280C>T (n.280C>T) c.785C>T (p.Ser262Phe) c.1163C>T (p.Ser388Phe) | gnomAD v4 |
| 8 | g.102208242G>C | CA371586186 | RRM2B | c.947C>G (p.Ser316Cys) n.334C>G c.791C>G (p.Ser264Cys) c.311C>G (p.Ser104Cys) c.92C>G (p.Ser31Cys) c.1116C>G c.280C>G (n.280C>G) c.785C>G (p.Ser262Cys) c.1163C>G (p.Ser388Cys) | COSMIC |
| 8 | g.102208242G>T | CA371586181 | RRM2B | c.947C>A (p.Ser316Tyr) n.334C>A c.791C>A (p.Ser264Tyr) c.311C>A (p.Ser104Tyr) c.92C>A (p.Ser31Tyr) c.1116C>A c.280C>A (n.280C>A) c.785C>A (p.Ser262Tyr) c.1163C>A (p.Ser388Tyr) | gnomAD v4 COSMIC |
| 8 | g.102208243A= | CA1806674688 | RRM2B | c.946T= (p.Ser316=) n.333T= c.790T= (p.Ser264=) c.310T= (p.Ser104=) c.91T= (p.Ser31=) c.1115T= c.279T= (n.279T=) c.784T= (p.Ser262=) c.1162T= (p.Ser388=) | |
| 8 | g.102208243A>C | CA371586189 | RRM2B | c.946T>G (p.Ser316Ala) n.333T>G c.790T>G (p.Ser264Ala) c.310T>G (p.Ser104Ala) c.91T>G (p.Ser31Ala) c.1115T>G c.279T>G (n.279T>G) c.784T>G (p.Ser262Ala) c.1162T>G (p.Ser388Ala) | gnomAD v4 |
| 8 | g.102208243A>G | CA371586194 | RRM2B | c.946T>C (p.Ser316Pro) n.333T>C c.790T>C (p.Ser264Pro) c.310T>C (p.Ser104Pro) c.91T>C (p.Ser31Pro) c.1115T>C c.279T>C (n.279T>C) c.784T>C (p.Ser262Pro) c.1162T>C (p.Ser388Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208243A>T | CA371586191 | RRM2B | c.946T>A (p.Ser316Thr) n.333T>A c.790T>A (p.Ser264Thr) c.310T>A (p.Ser104Thr) c.91T>A (p.Ser31Thr) c.1115T>A c.279T>A (n.279T>A) c.784T>A (p.Ser262Thr) c.1162T>A (p.Ser388Thr) | |
| 8 | g.102208244A>C | CA371586199 | RRM2B | c.945T>G (p.Ile315Met) n.332T>G c.789T>G (p.Ile263Met) c.309T>G (p.Ile103Met) c.90T>G (p.Ile30Met) c.1114T>G c.278T>G (n.278T>G) c.783T>G (p.Ile261Met) c.1161T>G (p.Ile387Met) | |
| 8 | g.102208244A>G | CA462123925 | RRM2B | c.945T>C (p.Ile315=) n.332T>C c.789T>C (p.Ile263=) c.309T>C (p.Ile103=) c.90T>C (p.Ile30=) c.1114T>C c.278T>C (n.278T>C) c.783T>C (p.Ile261=) c.1161T>C (p.Ile387=) | |
| 8 | g.102208244A>T | CA462123926 | RRM2B | c.945T>A (p.Ile315=) n.332T>A c.789T>A (p.Ile263=) c.309T>A (p.Ile103=) c.90T>A (p.Ile30=) c.1114T>A c.278T>A (n.278T>A) c.783T>A (p.Ile261=) c.1161T>A (p.Ile387=) | |
| 8 | g.102208245A>C | CA371586208 | RRM2B | c.944T>G (p.Ile315Ser) n.331T>G c.788T>G (p.Ile263Ser) c.308T>G (p.Ile103Ser) c.89T>G (p.Ile30Ser) c.1113T>G c.277T>G (n.277T>G) c.782T>G (p.Ile261Ser) c.1160T>G (p.Ile387Ser) | |
| 8 | g.102208245A>G | CA371586205 | RRM2B | c.944T>C (p.Ile315Thr) n.331T>C c.788T>C (p.Ile263Thr) c.308T>C (p.Ile103Thr) c.89T>C (p.Ile30Thr) c.1113T>C c.277T>C (n.277T>C) c.782T>C (p.Ile261Thr) c.1160T>C (p.Ile387Thr) | |
| 8 | g.102208245A>T | CA371586213 | RRM2B | c.944T>A (p.Ile315Asn) n.331T>A c.788T>A (p.Ile263Asn) c.308T>A (p.Ile103Asn) c.89T>A (p.Ile30Asn) c.1113T>A c.277T>A (n.277T>A) c.782T>A (p.Ile261Asn) c.1160T>A (p.Ile387Asn) | |
| 8 | g.102208246T>A | CA371586218 | RRM2B | c.943A>T (p.Ile315Phe) n.330A>T c.787A>T (p.Ile263Phe) c.307A>T (p.Ile103Phe) c.88A>T (p.Ile30Phe) c.1112A>T c.276A>T (n.276A>T) c.781A>T (p.Ile261Phe) c.1159A>T (p.Ile387Phe) | |
| 8 | g.102208246T>C | CA371586225 | RRM2B | c.943A>G (p.Ile315Val) n.330A>G c.787A>G (p.Ile263Val) c.307A>G (p.Ile103Val) c.88A>G (p.Ile30Val) c.1112A>G c.276A>G (n.276A>G) c.781A>G (p.Ile261Val) c.1159A>G (p.Ile387Val) | gnomAD v4 |
| 8 | g.102208246T>G | CA371586222 | RRM2B | c.943A>C (p.Ile315Leu) n.330A>C c.787A>C (p.Ile263Leu) c.307A>C (p.Ile103Leu) c.88A>C (p.Ile30Leu) c.1112A>C c.276A>C (n.276A>C) c.781A>C (p.Ile261Leu) c.1159A>C (p.Ile387Leu) | |
| 8 | g.102208247G>A | CA462123940 | RRM2B | c.942C>T (p.Asn314=) n.329C>T c.786C>T (p.Asn262=) c.306C>T (p.Asn102=) c.87C>T (p.Asn29=) c.1111C>T c.275C>T (n.275C>T) c.780C>T (p.Asn260=) c.1158C>T (p.Asn386=) | |
| 8 | g.102208247G>C | CA371586233 | RRM2B | c.942C>G (p.Asn314Lys) n.329C>G c.786C>G (p.Asn262Lys) c.306C>G (p.Asn102Lys) c.87C>G (p.Asn29Lys) c.1111C>G c.275C>G (n.275C>G) c.780C>G (p.Asn260Lys) c.1158C>G (p.Asn386Lys) | dbSNP |
| 8 | g.102208247G>T | CA371586235 | RRM2B | c.942C>A (p.Asn314Lys) n.329C>A c.786C>A (p.Asn262Lys) c.306C>A (p.Asn102Lys) c.87C>A (p.Asn29Lys) c.1111C>A c.275C>A (n.275C>A) c.780C>A (p.Asn260Lys) c.1158C>A (p.Asn386Lys) | |
| 8 | g.102208248T>A | CA371586239 | RRM2B | c.941A>T (p.Asn314Ile) n.328A>T c.785A>T (p.Asn262Ile) c.305A>T (p.Asn102Ile) c.86A>T (p.Asn29Ile) c.1110A>T c.274A>T (n.274A>T) c.779A>T (p.Asn260Ile) c.1157A>T (p.Asn386Ile) | dbSNP |
| 8 | g.102208248T>C | CA371586242 | RRM2B | c.941A>G (p.Asn314Ser) n.328A>G c.785A>G (p.Asn262Ser) c.305A>G (p.Asn102Ser) c.86A>G (p.Asn29Ser) c.1110A>G c.274A>G (n.274A>G) c.779A>G (p.Asn260Ser) c.1157A>G (p.Asn386Ser) | |
| 8 | g.102208248T>G | CA371586246 | RRM2B | c.941A>C (p.Asn314Thr) n.328A>C c.785A>C (p.Asn262Thr) c.305A>C (p.Asn102Thr) c.86A>C (p.Asn29Thr) c.1110A>C c.274A>C (n.274A>C) c.779A>C (p.Asn260Thr) c.1157A>C (p.Asn386Thr) | |
| 8 | g.102208251del | CA2580078498 | RRM2B | c.941del (p.Asn314ThrfsTer4) n.328del c.785del (p.Asn262ThrfsTer4) c.305del (p.Asn102ThrfsTer4) c.86del (p.Asn29ThrfsTer4) c.1110del c.274del (n.274del) c.779del (p.Asn260ThrfsTer4) c.1157del (p.Asn386ThrfsTer4) | ClinVar |
| 8 | g.102208249T>A | CA371586250 | RRM2B | c.940A>T (p.Asn314Tyr) n.327A>T c.784A>T (p.Asn262Tyr) c.304A>T (p.Asn102Tyr) c.85A>T (p.Asn29Tyr) c.1109A>T c.273A>T (n.273A>T) c.778A>T (p.Asn260Tyr) c.1156A>T (p.Asn386Tyr) | ClinVar |
| 8 | g.102208249T>C | CA371586252 | RRM2B | c.940A>G (p.Asn314Asp) n.327A>G c.784A>G (p.Asn262Asp) c.304A>G (p.Asn102Asp) c.85A>G (p.Asn29Asp) c.1109A>G c.273A>G (n.273A>G) c.778A>G (p.Asn260Asp) c.1156A>G (p.Asn386Asp) | |
| 8 | g.102208249T>G | CA371586255 | RRM2B | c.940A>C (p.Asn314His) n.327A>C c.784A>C (p.Asn262His) c.304A>C (p.Asn102His) c.85A>C (p.Asn29His) c.1109A>C c.273A>C (n.273A>C) c.778A>C (p.Asn260His) c.1156A>C (p.Asn386His) | |
| 8 | g.102208250T>A | CA371586261 | RRM2B | c.939A>T (p.Glu313Asp) n.326A>T c.783A>T (p.Glu261Asp) c.303A>T (p.Glu101Asp) c.84A>T (p.Glu28Asp) c.1108A>T c.272A>T (n.272A>T) c.777A>T (p.Glu259Asp) c.1155A>T (p.Glu385Asp) | |
| 8 | g.102208250T>C | CA462123944 | RRM2B | c.939A>G (p.Glu313=) n.326A>G c.783A>G (p.Glu261=) c.303A>G (p.Glu101=) c.84A>G (p.Glu28=) c.1108A>G c.272A>G (n.272A>G) c.777A>G (p.Glu259=) c.1155A>G (p.Glu385=) | |
| 8 | g.102208250T>G | CA371586263 | RRM2B | c.939A>C (p.Glu313Asp) n.326A>C c.783A>C (p.Glu261Asp) c.303A>C (p.Glu101Asp) c.84A>C (p.Glu28Asp) c.1108A>C c.272A>C (n.272A>C) c.777A>C (p.Glu259Asp) c.1155A>C (p.Glu385Asp) | |
| 8 | g.102208251T>A | CA371586271 | RRM2B | c.938A>T (p.Glu313Val) n.325A>T c.782A>T (p.Glu261Val) c.302A>T (p.Glu101Val) c.83A>T (p.Glu28Val) c.1107A>T c.271A>T (n.271A>T) c.776A>T (p.Glu259Val) c.1154A>T (p.Glu385Val) | |
| 8 | g.102208251T>C | CA371586267 | RRM2B | c.938A>G (p.Glu313Gly) n.325A>G c.782A>G (p.Glu261Gly) c.302A>G (p.Glu101Gly) c.83A>G (p.Glu28Gly) c.1107A>G c.271A>G (n.271A>G) c.776A>G (p.Glu259Gly) c.1154A>G (p.Glu385Gly) | gnomAD v4 |
| 8 | g.102208251T>G | CA371586265 | RRM2B | c.938A>C (p.Glu313Ala) n.325A>C c.782A>C (p.Glu261Ala) c.302A>C (p.Glu101Ala) c.83A>C (p.Glu28Ala) c.1107A>C c.271A>C (n.271A>C) c.776A>C (p.Glu259Ala) c.1154A>C (p.Glu385Ala) | |
| 8 | g.102208252C>A | CA371586277 | RRM2B | c.937G>T (p.Glu313Ter) n.324G>T c.781G>T (p.Glu261Ter) c.301G>T (p.Glu101Ter) c.82G>T (p.Glu28Ter) c.1106G>T c.270G>T (n.270G>T) c.775G>T (p.Glu259Ter) c.1153G>T (p.Glu385Ter) | |
| 8 | g.102208252C>G | CA371586281 | RRM2B | c.937G>C (p.Glu313Gln) n.324G>C c.781G>C (p.Glu261Gln) c.301G>C (p.Glu101Gln) c.82G>C (p.Glu28Gln) c.1106G>C c.270G>C (n.270G>C) c.775G>C (p.Glu259Gln) c.1153G>C (p.Glu385Gln) | |
| 8 | g.102208252C>T | CA371586283 | RRM2B | c.937G>A (p.Glu313Lys) n.324G>A c.781G>A (p.Glu261Lys) c.301G>A (p.Glu101Lys) c.82G>A (p.Glu28Lys) c.1106G>A c.270G>A (n.270G>A) c.775G>A (p.Glu259Lys) c.1153G>A (p.Glu385Lys) | |
| 8 | g.102208253C>A | CA371586290 | RRM2B | c.936G>T (p.Met312Ile) n.323G>T c.780G>T (p.Met260Ile) c.300G>T (p.Met100Ile) c.81G>T (p.Met27Ile) c.1105G>T c.269G>T (n.269G>T) c.774G>T (p.Met258Ile) c.1152G>T (p.Met384Ile) | |
| 8 | g.102208253C>G | CA371586294 | RRM2B | c.936G>C (p.Met312Ile) n.323G>C c.780G>C (p.Met260Ile) c.300G>C (p.Met100Ile) c.81G>C (p.Met27Ile) c.1105G>C c.269G>C (n.269G>C) c.774G>C (p.Met258Ile) c.1152G>C (p.Met384Ile) | |
| 8 | g.102208253C>T | CA371586297 | RRM2B | c.936G>A (p.Met312Ile) n.323G>A c.780G>A (p.Met260Ile) c.300G>A (p.Met100Ile) c.81G>A (p.Met27Ile) c.1105G>A c.269G>A (n.269G>A) c.774G>A (p.Met258Ile) c.1152G>A (p.Met384Ile) | |
| 8 | g.102208254A>C | CA371586301 | RRM2B | c.935T>G (p.Met312Arg) n.322T>G c.779T>G (p.Met260Arg) c.299T>G (p.Met100Arg) c.80T>G (p.Met27Arg) c.1104T>G c.268T>G (n.268T>G) c.773T>G (p.Met258Arg) c.1151T>G (p.Met384Arg) | |
| 8 | g.102208254A>G | CA371586303 | RRM2B | c.935T>C (p.Met312Thr) n.322T>C c.779T>C (p.Met260Thr) c.299T>C (p.Met100Thr) c.80T>C (p.Met27Thr) c.1104T>C c.268T>C (n.268T>C) c.773T>C (p.Met258Thr) c.1151T>C (p.Met384Thr) | |
| 8 | g.102208254A>T | CA371586305 | RRM2B | c.935T>A (p.Met312Lys) n.322T>A c.779T>A (p.Met260Lys) c.299T>A (p.Met100Lys) c.80T>A (p.Met27Lys) c.1104T>A c.268T>A (n.268T>A) c.773T>A (p.Met258Lys) c.1151T>A (p.Met384Lys) | |
| 8 | g.102208254_102208255insGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCG | CA2688143449 | RRM2B | c.934_935insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met312ThrfsTer24) n.321_322insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC c.778_779insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met260ThrfsTer24) c.298_299insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met100ThrfsTer24) c.79_80insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met27ThrfsTer24) c.1103_1104insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC c.267_268insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (n.267_268insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC) c.772_773insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met258ThrfsTer24) c.1150_1151insCGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCC (p.Met384ThrfsTer24) | gnomAD v4 |
| 8 | g.102208255T>A | CA371586307 | RRM2B | c.934A>T (p.Met312Leu) n.321A>T c.778A>T (p.Met260Leu) c.298A>T (p.Met100Leu) c.79A>T (p.Met27Leu) c.1103A>T c.267A>T (n.267A>T) c.772A>T (p.Met258Leu) c.1150A>T (p.Met384Leu) | |
| 8 | g.102208255T>C | CA4830961 | RRM2B | c.934A>G (p.Met312Val) n.321A>G c.778A>G (p.Met260Val) c.298A>G (p.Met100Val) c.79A>G (p.Met27Val) c.1103A>G c.267A>G (n.267A>G) c.772A>G (p.Met258Val) c.1150A>G (p.Met384Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102208255T>G | CA371586312 | RRM2B | c.934A>C (p.Met312Leu) n.321A>C c.778A>C (p.Met260Leu) c.298A>C (p.Met100Leu) c.79A>C (p.Met27Leu) c.1103A>C c.267A>C (n.267A>C) c.772A>C (p.Met258Leu) c.1150A>C (p.Met384Leu) | |
| 8 | g.102208255T= | CA1806674689 | RRM2B | c.934A= (p.Met312=) n.321A= c.778A= (p.Met260=) c.298A= (p.Met100=) c.79A= (p.Met27=) c.1103A= c.267A= (n.267A=) c.772A= (p.Met258=) c.1150A= (p.Met384=) | |
| 8 | g.102208256A= | CA1806674690 | RRM2B | c.933T= (p.Phe311=) n.320T= c.777T= (p.Phe259=) c.297T= (p.Phe99=) c.78T= (p.Phe26=) c.1102T= c.266T= (n.266T=) c.771T= (p.Phe257=) c.1149T= (p.Phe383=) | |
| 8 | g.102208256A>C | CA371586322 | RRM2B | c.933T>G (p.Phe311Leu) n.320T>G c.777T>G (p.Phe259Leu) c.297T>G (p.Phe99Leu) c.78T>G (p.Phe26Leu) c.1102T>G c.266T>G (n.266T>G) c.771T>G (p.Phe257Leu) c.1149T>G (p.Phe383Leu) | |
| 8 | g.102208256A>G | CA462123960 | RRM2B | c.933T>C (p.Phe311=) n.320T>C c.777T>C (p.Phe259=) c.297T>C (p.Phe99=) c.78T>C (p.Phe26=) c.1102T>C c.266T>C (n.266T>C) c.771T>C (p.Phe257=) c.1149T>C (p.Phe383=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208256A>T | CA371586318 | RRM2B | c.933T>A (p.Phe311Leu) n.320T>A c.777T>A (p.Phe259Leu) c.297T>A (p.Phe99Leu) c.78T>A (p.Phe26Leu) c.1102T>A c.266T>A (n.266T>A) c.771T>A (p.Phe257Leu) c.1149T>A (p.Phe383Leu) | |
| 8 | g.102208257A>C | CA371586323 | RRM2B | c.932T>G (p.Phe311Cys) n.319T>G c.776T>G (p.Phe259Cys) c.296T>G (p.Phe99Cys) c.77T>G (p.Phe26Cys) c.1101T>G c.265T>G (n.265T>G) c.770T>G (p.Phe257Cys) c.1148T>G (p.Phe383Cys) | |
| 8 | g.102208257A>G | CA371586324 | RRM2B | c.932T>C (p.Phe311Ser) n.319T>C c.776T>C (p.Phe259Ser) c.296T>C (p.Phe99Ser) c.77T>C (p.Phe26Ser) c.1101T>C c.265T>C (n.265T>C) c.770T>C (p.Phe257Ser) c.1148T>C (p.Phe383Ser) | |
| 8 | g.102208257A>T | CA371586325 | RRM2B | c.932T>A (p.Phe311Tyr) n.319T>A c.776T>A (p.Phe259Tyr) c.296T>A (p.Phe99Tyr) c.77T>A (p.Phe26Tyr) c.1101T>A c.265T>A (n.265T>A) c.770T>A (p.Phe257Tyr) c.1148T>A (p.Phe383Tyr) | |
| 8 | g.102208258A>C | CA371586329 | RRM2B | c.931T>G (p.Phe311Val) n.318T>G c.775T>G (p.Phe259Val) c.295T>G (p.Phe99Val) c.76T>G (p.Phe26Val) c.1100T>G c.264T>G (n.264T>G) c.769T>G (p.Phe257Val) c.1147T>G (p.Phe383Val) | |
| 8 | g.102208258A>G | CA371586333 | RRM2B | c.931T>C (p.Phe311Leu) n.318T>C c.775T>C (p.Phe259Leu) c.295T>C (p.Phe99Leu) c.76T>C (p.Phe26Leu) c.1100T>C c.264T>C (n.264T>C) c.769T>C (p.Phe257Leu) c.1147T>C (p.Phe383Leu) | |
| 8 | g.102208258A>T | CA371586337 | RRM2B | c.931T>A (p.Phe311Ile) n.318T>A c.775T>A (p.Phe259Ile) c.295T>A (p.Phe99Ile) c.76T>A (p.Phe26Ile) c.1100T>A c.264T>A (n.264T>A) c.769T>A (p.Phe257Ile) c.1147T>A (p.Phe383Ile) | |
| 8 | g.102208259A>C | CA371586342 | RRM2B | c.930T>G (p.Asp310Glu) n.317T>G c.774T>G (p.Asp258Glu) c.294T>G (p.Asp98Glu) c.75T>G (p.Asp25Glu) c.1099T>G c.263T>G (n.263T>G) c.768T>G (p.Asp256Glu) c.1146T>G (p.Asp382Glu) | |
| 8 | g.102208259A>G | CA462123970 | RRM2B | c.930T>C (p.Asp310=) n.317T>C c.774T>C (p.Asp258=) c.294T>C (p.Asp98=) c.75T>C (p.Asp25=) c.1099T>C c.263T>C (n.263T>C) c.768T>C (p.Asp256=) c.1146T>C (p.Asp382=) | gnomAD v4 |
| 8 | g.102208259A>T | CA371586346 | RRM2B | c.930T>A (p.Asp310Glu) n.317T>A c.774T>A (p.Asp258Glu) c.294T>A (p.Asp98Glu) c.75T>A (p.Asp25Glu) c.1099T>A c.263T>A (n.263T>A) c.768T>A (p.Asp256Glu) c.1146T>A (p.Asp382Glu) | |
| 8 | g.102208260T>A | CA371586352 | RRM2B | c.929A>T (p.Asp310Val) n.316A>T c.773A>T (p.Asp258Val) c.293A>T (p.Asp98Val) c.74A>T (p.Asp25Val) c.1098A>T c.262A>T (n.262A>T) c.767A>T (p.Asp256Val) c.1145A>T (p.Asp382Val) | dbSNP |
| 8 | g.102208260T>C | CA371586360 | RRM2B | c.929A>G (p.Asp310Gly) n.316A>G c.773A>G (p.Asp258Gly) c.293A>G (p.Asp98Gly) c.74A>G (p.Asp25Gly) c.1098A>G c.262A>G (n.262A>G) c.767A>G (p.Asp256Gly) c.1145A>G (p.Asp382Gly) | |
| 8 | g.102208260T>G | CA371586362 | RRM2B | c.929A>C (p.Asp310Ala) n.316A>C c.773A>C (p.Asp258Ala) c.293A>C (p.Asp98Ala) c.74A>C (p.Asp25Ala) c.1098A>C c.262A>C (n.262A>C) c.767A>C (p.Asp256Ala) c.1145A>C (p.Asp382Ala) | |
| 8 | g.102208260T= | CA1806674691 | RRM2B | c.929A= (p.Asp310=) n.316A= c.773A= (p.Asp258=) c.293A= (p.Asp98=) c.74A= (p.Asp25=) c.1098A= c.262A= (n.262A=) c.767A= (p.Asp256=) c.1145A= (p.Asp382=) | |
| 8 | g.102208261C>A | CA371586374 | RRM2B | c.928G>T (p.Asp310Tyr) n.315G>T c.772G>T (p.Asp258Tyr) c.292G>T (p.Asp98Tyr) c.73G>T (p.Asp25Tyr) c.1097G>T c.261G>T (n.261G>T) c.766G>T (p.Asp256Tyr) c.1144G>T (p.Asp382Tyr) | |
| 8 | g.102208261C>G | CA371586377 | RRM2B | c.928G>C (p.Asp310His) n.315G>C c.772G>C (p.Asp258His) c.292G>C (p.Asp98His) c.73G>C (p.Asp25His) c.1097G>C c.261G>C (n.261G>C) c.766G>C (p.Asp256His) c.1144G>C (p.Asp382His) | |
| 8 | g.102208261C>T | CA371586378 | RRM2B | c.928G>A (p.Asp310Asn) n.315G>A c.772G>A (p.Asp258Asn) c.292G>A (p.Asp98Asn) c.73G>A (p.Asp25Asn) c.1097G>A c.261G>A (n.261G>A) c.766G>A (p.Asp256Asn) c.1144G>A (p.Asp382Asn) | |
| 8 | g.102208262A= | CA1806674692 | RRM2B | c.927T= (p.Phe309=) n.314T= c.771T= (p.Phe257=) c.291T= (p.Phe97=) c.72T= (p.Phe24=) c.1096T= c.260T= (n.260T=) c.765T= (p.Phe255=) c.1143T= (p.Phe381=) | |
| 8 | g.102208262A>C | CA371586380 | RRM2B | c.927T>G (p.Phe309Leu) n.314T>G c.771T>G (p.Phe257Leu) c.291T>G (p.Phe97Leu) c.72T>G (p.Phe24Leu) c.1096T>G c.260T>G (n.260T>G) c.765T>G (p.Phe255Leu) c.1143T>G (p.Phe381Leu) | |
| 8 | g.102208262A>G | CA462123975 | RRM2B | c.927T>C (p.Phe309=) n.314T>C c.771T>C (p.Phe257=) c.291T>C (p.Phe97=) c.72T>C (p.Phe24=) c.1096T>C c.260T>C (n.260T>C) c.765T>C (p.Phe255=) c.1143T>C (p.Phe381=) | ClinVar dbSNP |
| 8 | g.102208262A>T | CA371586383 | RRM2B | c.927T>A (p.Phe309Leu) n.314T>A c.771T>A (p.Phe257Leu) c.291T>A (p.Phe97Leu) c.72T>A (p.Phe24Leu) c.1096T>A c.260T>A (n.260T>A) c.765T>A (p.Phe255Leu) c.1143T>A (p.Phe381Leu) | gnomAD v4 |
| 8 | g.102208263A>C | CA371586384 | RRM2B | c.926T>G (p.Phe309Cys) n.313T>G c.770T>G (p.Phe257Cys) c.290T>G (p.Phe97Cys) c.71T>G (p.Phe24Cys) c.1095T>G c.259T>G (n.259T>G) c.764T>G (p.Phe255Cys) c.1142T>G (p.Phe381Cys) | |
| 8 | g.102208263A>G | CA371586385 | RRM2B | c.926T>C (p.Phe309Ser) n.313T>C c.770T>C (p.Phe257Ser) c.290T>C (p.Phe97Ser) c.71T>C (p.Phe24Ser) c.1095T>C c.259T>C (n.259T>C) c.764T>C (p.Phe255Ser) c.1142T>C (p.Phe381Ser) | gnomAD v4 |
| 8 | g.102208263A>T | CA371586386 | RRM2B | c.926T>A (p.Phe309Tyr) n.313T>A c.770T>A (p.Phe257Tyr) c.290T>A (p.Phe97Tyr) c.71T>A (p.Phe24Tyr) c.1095T>A c.259T>A (n.259T>A) c.764T>A (p.Phe255Tyr) c.1142T>A (p.Phe381Tyr) | |
| 8 | g.102208264A>C | CA371586389 | RRM2B | c.925T>G (p.Phe309Val) n.312T>G c.769T>G (p.Phe257Val) c.289T>G (p.Phe97Val) c.70T>G (p.Phe24Val) c.1094T>G c.258T>G (n.258T>G) c.763T>G (p.Phe255Val) c.1141T>G (p.Phe381Val) | |
| 8 | g.102208264A>G | CA371586391 | RRM2B | c.925T>C (p.Phe309Leu) n.312T>C c.769T>C (p.Phe257Leu) c.289T>C (p.Phe97Leu) c.70T>C (p.Phe24Leu) c.1094T>C c.258T>C (n.258T>C) c.763T>C (p.Phe255Leu) c.1141T>C (p.Phe381Leu) | |
| 8 | g.102208264A>T | CA371586395 | RRM2B | c.925T>A (p.Phe309Ile) n.312T>A c.769T>A (p.Phe257Ile) c.289T>A (p.Phe97Ile) c.70T>A (p.Phe24Ile) c.1094T>A c.258T>A (n.258T>A) c.763T>A (p.Phe255Ile) c.1141T>A (p.Phe381Ile) | |
| 8 | g.102208265A>C | CA462123990 | RRM2B | c.924T>G (p.Pro308=) n.311T>G c.768T>G (p.Pro256=) c.288T>G (p.Pro96=) c.69T>G (p.Pro23=) c.1093T>G c.257T>G (n.257T>G) c.762T>G (p.Pro254=) c.1140T>G (p.Pro380=) | |
| 8 | g.102208265A>G | CA462123993 | RRM2B | c.924T>C (p.Pro308=) n.311T>C c.768T>C (p.Pro256=) c.288T>C (p.Pro96=) c.69T>C (p.Pro23=) c.1093T>C c.257T>C (n.257T>C) c.762T>C (p.Pro254=) c.1140T>C (p.Pro380=) | |
| 8 | g.102208265A>T | CA462123995 | RRM2B | c.924T>A (p.Pro308=) n.311T>A c.768T>A (p.Pro256=) c.288T>A (p.Pro96=) c.69T>A (p.Pro23=) c.1093T>A c.257T>A (n.257T>A) c.762T>A (p.Pro254=) c.1140T>A (p.Pro380=) | |
| 8 | g.102208266G>A | CA371586398 | RRM2B | c.923C>T (p.Pro308Leu) n.310C>T c.767C>T (p.Pro256Leu) c.287C>T (p.Pro96Leu) c.68C>T (p.Pro23Leu) c.1092C>T c.256C>T (n.256C>T) c.761C>T (p.Pro254Leu) c.1139C>T (p.Pro380Leu) | COSMIC |
| 8 | g.102208266G>C | CA371586406 | RRM2B | c.923C>G (p.Pro308Arg) n.310C>G c.767C>G (p.Pro256Arg) c.287C>G (p.Pro96Arg) c.68C>G (p.Pro23Arg) c.1092C>G c.256C>G (n.256C>G) c.761C>G (p.Pro254Arg) c.1139C>G (p.Pro380Arg) | |
| 8 | g.102208266G>T | CA371586408 | RRM2B | c.923C>A (p.Pro308His) n.310C>A c.767C>A (p.Pro256His) c.287C>A (p.Pro96His) c.68C>A (p.Pro23His) c.1092C>A c.256C>A (n.256C>A) c.761C>A (p.Pro254His) c.1139C>A (p.Pro380His) | |
| 8 | g.102208267G>A | CA4830962 | RRM2B | c.922C>T (p.Pro308Ser) n.309C>T c.766C>T (p.Pro256Ser) c.286C>T (p.Pro96Ser) c.67C>T (p.Pro23Ser) c.1091C>T c.255C>T (n.255C>T) c.760C>T (p.Pro254Ser) c.1138C>T (p.Pro380Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.102208267G>C | CA371586414 | RRM2B | c.922C>G (p.Pro308Ala) n.309C>G c.766C>G (p.Pro256Ala) c.286C>G (p.Pro96Ala) c.67C>G (p.Pro23Ala) c.1091C>G c.255C>G (n.255C>G) c.760C>G (p.Pro254Ala) c.1138C>G (p.Pro380Ala) | |
| 8 | g.102208267G= | CA1806674693 | RRM2B | c.922C= (p.Pro308=) n.309C= c.766C= (p.Pro256=) c.286C= (p.Pro96=) c.67C= (p.Pro23=) c.1091C= c.255C= (n.255C=) c.760C= (p.Pro254=) c.1138C= (p.Pro380=) | |
| 8 | g.102208267G>T | CA371586417 | RRM2B | c.922C>A (p.Pro308Thr) n.309C>A c.766C>A (p.Pro256Thr) c.286C>A (p.Pro96Thr) c.67C>A (p.Pro23Thr) c.1091C>A c.255C>A (n.255C>A) c.760C>A (p.Pro254Thr) c.1138C>A (p.Pro380Thr) | |
| 8 | g.102208268A= | CA1806674695 | RRM2B | c.921T= (p.Asn307=) n.308T= c.765T= (p.Asn255=) c.285T= (p.Asn95=) c.66T= (p.Asn22=) c.1090T= c.254T= (n.254T=) c.759T= (p.Asn253=) c.1137T= (p.Asn379=) | |
| 8 | g.102208268A>C | CA371586422 | RRM2B | c.921T>G (p.Asn307Lys) n.308T>G c.765T>G (p.Asn255Lys) c.285T>G (p.Asn95Lys) c.66T>G (p.Asn22Lys) c.1090T>G c.254T>G (n.254T>G) c.759T>G (p.Asn253Lys) c.1137T>G (p.Asn379Lys) | |
| 8 | g.102208268A>G | CA462124004 | RRM2B | c.921T>C (p.Asn307=) n.308T>C c.765T>C (p.Asn255=) c.285T>C (p.Asn95=) c.66T>C (p.Asn22=) c.1090T>C c.254T>C (n.254T>C) c.759T>C (p.Asn253=) c.1137T>C (p.Asn379=) | dbSNP gnomAD v4 |
| 8 | g.102208268A>T | CA371586421 | RRM2B | c.921T>A (p.Asn307Lys) n.308T>A c.765T>A (p.Asn255Lys) c.285T>A (p.Asn95Lys) c.66T>A (p.Asn22Lys) c.1090T>A c.254T>A (n.254T>A) c.759T>A (p.Asn253Lys) c.1137T>A (p.Asn379Lys) | |
| 8 | g.102208268_102208269delinsAT | CA1806674694 | RRM2B | c.920_921delinsAT (p.Asn307=) n.307_308delinsAT c.764_765delinsAT (p.Asn255=) c.284_285delinsAT (p.Asn95=) c.65_66delinsAT (p.Asn22=) c.1089_1090delinsAT c.253_254delinsAT (n.253_254delinsAT) c.758_759delinsAT (p.Asn253=) c.1136_1137delinsAT (p.Asn379=) | |
| 8 | g.102208269T>A | CA371586428 | RRM2B | c.920A>T (p.Asn307Ile) n.307A>T c.764A>T (p.Asn255Ile) c.284A>T (p.Asn95Ile) c.65A>T (p.Asn22Ile) c.1089A>T c.253A>T (n.253A>T) c.758A>T (p.Asn253Ile) c.1136A>T (p.Asn379Ile) | |
| 8 | g.102208269T>C | CA371586433 | RRM2B | c.920A>G (p.Asn307Ser) n.307A>G c.764A>G (p.Asn255Ser) c.284A>G (p.Asn95Ser) c.65A>G (p.Asn22Ser) c.1089A>G c.253A>G (n.253A>G) c.758A>G (p.Asn253Ser) c.1136A>G (p.Asn379Ser) | |
| 8 | g.102208269T>G | CA371586436 | RRM2B | c.920A>C (p.Asn307Thr) n.307A>C c.764A>C (p.Asn255Thr) c.284A>C (p.Asn95Thr) c.65A>C (p.Asn22Thr) c.1089A>C c.253A>C (n.253A>C) c.758A>C (p.Asn253Thr) c.1136A>C (p.Asn379Thr) | |
| 8 | g.102208272del | CA345616 | RRM2B | c.920del (p.Asn307IlefsTer11) n.307del c.764del (p.Asn255IlefsTer11) c.284del (p.Asn95IlefsTer11) c.65del (p.Asn22IlefsTer11) c.1089del c.253del (n.253del) c.758del (p.Asn253IlefsTer11) c.1136del (p.Asn379IlefsTer11) | ClinVar dbSNP |
| 8 | g.102208270T>A | CA371586440 | RRM2B | c.919A>T (p.Asn307Tyr) n.306A>T c.763A>T (p.Asn255Tyr) c.283A>T (p.Asn95Tyr) c.64A>T (p.Asn22Tyr) c.1088A>T c.252A>T (n.252A>T) c.757A>T (p.Asn253Tyr) c.1135A>T (p.Asn379Tyr) | |
| 8 | g.102208270T>C | CA371586443 | RRM2B | c.919A>G (p.Asn307Asp) n.306A>G c.763A>G (p.Asn255Asp) c.283A>G (p.Asn95Asp) c.64A>G (p.Asn22Asp) c.1088A>G c.252A>G (n.252A>G) c.757A>G (p.Asn253Asp) c.1135A>G (p.Asn379Asp) | |
| 8 | g.102208270T>G | CA371586447 | RRM2B | c.919A>C (p.Asn307His) n.306A>C c.763A>C (p.Asn255His) c.283A>C (p.Asn95His) c.64A>C (p.Asn22His) c.1088A>C c.252A>C (n.252A>C) c.757A>C (p.Asn253His) c.1135A>C (p.Asn379His) | |
| 8 | g.102208271T>A | CA371586453 | RRM2B | c.918A>T (p.Glu306Asp) n.305A>T c.762A>T (p.Glu254Asp) c.282A>T (p.Glu94Asp) c.63A>T (p.Glu21Asp) c.1087A>T c.251A>T (n.251A>T) c.756A>T (p.Glu252Asp) c.1134A>T (p.Glu378Asp) | |
| 8 | g.102208271T>C | CA462124013 | RRM2B | c.918A>G (p.Glu306=) n.305A>G c.762A>G (p.Glu254=) c.282A>G (p.Glu94=) c.63A>G (p.Glu21=) c.1087A>G c.251A>G (n.251A>G) c.756A>G (p.Glu252=) c.1134A>G (p.Glu378=) | |
| 8 | g.102208271T>G | CA371586456 | RRM2B | c.918A>C (p.Glu306Asp) n.305A>C c.762A>C (p.Glu254Asp) c.282A>C (p.Glu94Asp) c.63A>C (p.Glu21Asp) c.1087A>C c.251A>C (n.251A>C) c.756A>C (p.Glu252Asp) c.1134A>C (p.Glu378Asp) | |
| 8 | g.102208272T>A | CA371586463 | RRM2B | c.917A>T (p.Glu306Val) n.304A>T c.761A>T (p.Glu254Val) c.281A>T (p.Glu94Val) c.62A>T (p.Glu21Val) c.1086A>T c.250A>T (n.250A>T) c.755A>T (p.Glu252Val) c.1133A>T (p.Glu378Val) | |
| 8 | g.102208272T>C | CA371586466 | RRM2B | c.917A>G (p.Glu306Gly) n.304A>G c.761A>G (p.Glu254Gly) c.281A>G (p.Glu94Gly) c.62A>G (p.Glu21Gly) c.1086A>G c.250A>G (n.250A>G) c.755A>G (p.Glu252Gly) c.1133A>G (p.Glu378Gly) | |
| 8 | g.102208272T>G | CA371586469 | RRM2B | c.917A>C (p.Glu306Ala) n.304A>C c.761A>C (p.Glu254Ala) c.281A>C (p.Glu94Ala) c.62A>C (p.Glu21Ala) c.1086A>C c.250A>C (n.250A>C) c.755A>C (p.Glu252Ala) c.1133A>C (p.Glu378Ala) | |
| 8 | g.102208273C>A | CA371586472 | RRM2B | c.916G>T (p.Glu306Ter) n.303G>T c.760G>T (p.Glu254Ter) c.280G>T (p.Glu94Ter) c.61G>T (p.Glu21Ter) c.1085G>T c.249G>T (n.249G>T) c.754G>T (p.Glu252Ter) c.1132G>T (p.Glu378Ter) | gnomAD v4 |
| 8 | g.102208273C>G | CA371586476 | RRM2B | c.916G>C (p.Glu306Gln) n.303G>C c.760G>C (p.Glu254Gln) c.280G>C (p.Glu94Gln) c.61G>C (p.Glu21Gln) c.1085G>C c.249G>C (n.249G>C) c.754G>C (p.Glu252Gln) c.1132G>C (p.Glu378Gln) | |
| 8 | g.102208273C>T | CA371586479 | RRM2B | c.916G>A (p.Glu306Lys) n.303G>A c.760G>A (p.Glu254Lys) c.280G>A (p.Glu94Lys) c.61G>A (p.Glu21Lys) c.1085G>A c.249G>A (n.249G>A) c.754G>A (p.Glu252Lys) c.1132G>A (p.Glu378Lys) | |
| 8 | g.102208274del | CA2579221159 | RRM2B | c.915del (p.Glu306LysfsTer12) n.302del c.759del (p.Glu254LysfsTer12) c.279del (p.Glu94LysfsTer12) c.60del (p.Glu21LysfsTer12) c.1084del c.248del (n.248del) c.753del (p.Glu252LysfsTer12) c.1131del (p.Glu378LysfsTer12) | |
| 8 | g.102208274T>A | CA462124021 | RRM2B | c.915A>T (p.Ala305=) n.302A>T c.759A>T (p.Ala253=) c.279A>T (p.Ala93=) c.60A>T (p.Ala20=) c.1084A>T c.248A>T (n.248A>T) c.753A>T (p.Ala251=) c.1131A>T (p.Ala377=) | |
| 8 | g.102208274T>C | CA462124022 | RRM2B | c.915A>G (p.Ala305=) n.302A>G c.759A>G (p.Ala253=) c.279A>G (p.Ala93=) c.60A>G (p.Ala20=) c.1084A>G c.248A>G (n.248A>G) c.753A>G (p.Ala251=) c.1131A>G (p.Ala377=) | |
| 8 | g.102208274T>G | CA462124024 | RRM2B | c.915A>C (p.Ala305=) n.302A>C c.759A>C (p.Ala253=) c.279A>C (p.Ala93=) c.60A>C (p.Ala20=) c.1084A>C c.248A>C (n.248A>C) c.753A>C (p.Ala251=) c.1131A>C (p.Ala377=) | |
| 8 | g.102208275G>A | CA371586501 | RRM2B | c.914C>T (p.Ala305Val) n.301C>T c.758C>T (p.Ala253Val) c.278C>T (p.Ala93Val) c.59C>T (p.Ala20Val) c.1083C>T c.247C>T (n.247C>T) c.752C>T (p.Ala251Val) c.1130C>T (p.Ala377Val) | dbSNP |
| 8 | g.102208275G>C | CA371586494 | RRM2B | c.914C>G (p.Ala305Gly) n.301C>G c.758C>G (p.Ala253Gly) c.278C>G (p.Ala93Gly) c.59C>G (p.Ala20Gly) c.1083C>G c.247C>G (n.247C>G) c.752C>G (p.Ala251Gly) c.1130C>G (p.Ala377Gly) | |
| 8 | g.102208275G= | CA1806674696 | RRM2B | c.914C= (p.Ala305=) n.301C= c.758C= (p.Ala253=) c.278C= (p.Ala93=) c.59C= (p.Ala20=) c.1083C= c.247C= (n.247C=) c.752C= (p.Ala251=) c.1130C= (p.Ala377=) | |
| 8 | g.102208275G>T | CA371586498 | RRM2B | c.914C>A (p.Ala305Glu) n.301C>A c.758C>A (p.Ala253Glu) c.278C>A (p.Ala93Glu) c.59C>A (p.Ala20Glu) c.1083C>A c.247C>A (n.247C>A) c.752C>A (p.Ala251Glu) c.1130C>A (p.Ala377Glu) | gnomAD v4 |
| 8 | g.102208276C>A | CA4830963 | RRM2B | c.913G>T (p.Ala305Ser) n.300G>T c.757G>T (p.Ala253Ser) c.277G>T (p.Ala93Ser) c.58G>T (p.Ala20Ser) c.1082G>T c.246G>T (n.246G>T) c.751G>T (p.Ala251Ser) c.1129G>T (p.Ala377Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208276C= | CA1806674697 | RRM2B | c.913G= (p.Ala305=) n.300G= c.757G= (p.Ala253=) c.277G= (p.Ala93=) c.58G= (p.Ala20=) c.1082G= c.246G= (n.246G=) c.751G= (p.Ala251=) c.1129G= (p.Ala377=) | |
| 8 | g.102208276C>G | CA371586506 | RRM2B | c.913G>C (p.Ala305Pro) n.300G>C c.757G>C (p.Ala253Pro) c.277G>C (p.Ala93Pro) c.58G>C (p.Ala20Pro) c.1082G>C c.246G>C (n.246G>C) c.751G>C (p.Ala251Pro) c.1129G>C (p.Ala377Pro) | |
| 8 | g.102208276C>T | CA371586507 | RRM2B | c.913G>A (p.Ala305Thr) n.300G>A c.757G>A (p.Ala253Thr) c.277G>A (p.Ala93Thr) c.58G>A (p.Ala20Thr) c.1082G>A c.246G>A (n.246G>A) c.751G>A (p.Ala251Thr) c.1129G>A (p.Ala377Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.102208277C>A | CA371586508 | RRM2B | c.912G>T (p.Gln304His) n.299G>T c.756G>T (p.Gln252His) c.276G>T (p.Gln92His) c.57G>T (p.Gln19His) c.1081G>T c.245G>T (n.245G>T) c.750G>T (p.Gln250His) c.1128G>T (p.Gln376His) | |
| 8 | g.102208277C= | CA1806674698 | RRM2B | c.912G= (p.Gln304=) n.299G= c.756G= (p.Gln252=) c.276G= (p.Gln92=) c.57G= (p.Gln19=) c.1081G= c.245G= (n.245G=) c.750G= (p.Gln250=) c.1128G= (p.Gln376=) | |
| 8 | g.102208277C>G | CA182464228 | RRM2B | c.912G>C (p.Gln304His) n.299G>C c.756G>C (p.Gln252His) c.276G>C (p.Gln92His) c.57G>C (p.Gln19His) c.1081G>C c.245G>C (n.245G>C) c.750G>C (p.Gln250His) c.1128G>C (p.Gln376His) | dbSNP |
| 8 | g.102208277C>T | CA462124031 | RRM2B | c.912G>A (p.Gln304=) n.299G>A c.756G>A (p.Gln252=) c.276G>A (p.Gln92=) c.57G>A (p.Gln19=) c.1081G>A c.245G>A (n.245G>A) c.750G>A (p.Gln250=) c.1128G>A (p.Gln376=) | |
| 8 | g.102208278T>A | CA371586511 | RRM2B | c.911A>T (p.Gln304Leu) n.298A>T c.755A>T (p.Gln252Leu) c.275A>T (p.Gln92Leu) c.56A>T (p.Gln19Leu) c.1080A>T c.244A>T (n.244A>T) c.749A>T (p.Gln250Leu) c.1127A>T (p.Gln376Leu) | |
| 8 | g.102208278T>C | CA371586518 | RRM2B | c.911A>G (p.Gln304Arg) n.298A>G c.755A>G (p.Gln252Arg) c.275A>G (p.Gln92Arg) c.56A>G (p.Gln19Arg) c.1080A>G c.244A>G (n.244A>G) c.749A>G (p.Gln250Arg) c.1127A>G (p.Gln376Arg) | gnomAD v4 |
| 8 | g.102208278T>G | CA371586526 | RRM2B | c.911A>C (p.Gln304Pro) n.298A>C c.755A>C (p.Gln252Pro) c.275A>C (p.Gln92Pro) c.56A>C (p.Gln19Pro) c.1080A>C c.244A>C (n.244A>C) c.749A>C (p.Gln250Pro) c.1127A>C (p.Gln376Pro) | |
| 8 | g.102208279G>A | CA371586530 | RRM2B | c.910C>T (p.Gln304Ter) n.297C>T c.754C>T (p.Gln252Ter) c.274C>T (p.Gln92Ter) c.55C>T (p.Gln19Ter) c.1079C>T c.243C>T (n.243C>T) c.748C>T (p.Gln250Ter) c.1126C>T (p.Gln376Ter) | |
| 8 | g.102208279G>C | CA371586531 | RRM2B | c.910C>G (p.Gln304Glu) n.297C>G c.754C>G (p.Gln252Glu) c.274C>G (p.Gln92Glu) c.55C>G (p.Gln19Glu) c.1079C>G c.243C>G (n.243C>G) c.748C>G (p.Gln250Glu) c.1126C>G (p.Gln376Glu) | |
| 8 | g.102208279G>T | CA371586533 | RRM2B | c.910C>A (p.Gln304Lys) n.297C>A c.754C>A (p.Gln252Lys) c.274C>A (p.Gln92Lys) c.55C>A (p.Gln19Lys) c.1079C>A c.243C>A (n.243C>A) c.748C>A (p.Gln250Lys) c.1126C>A (p.Gln376Lys) | |
| 8 | g.102208280A>C | CA371586535 | RRM2B | c.909T>G (p.Phe303Leu) n.296T>G c.753T>G (p.Phe251Leu) c.273T>G (p.Phe91Leu) c.54T>G (p.Phe18Leu) c.1078T>G c.242T>G (n.242T>G) c.747T>G (p.Phe249Leu) c.1125T>G (p.Phe375Leu) | |
| 8 | g.102208280A>G | CA462124040 | RRM2B | c.909T>C (p.Phe303=) n.296T>C c.753T>C (p.Phe251=) c.273T>C (p.Phe91=) c.54T>C (p.Phe18=) c.1078T>C c.242T>C (n.242T>C) c.747T>C (p.Phe249=) c.1125T>C (p.Phe375=) | |
| 8 | g.102208280A>T | CA371586534 | RRM2B | c.909T>A (p.Phe303Leu) n.296T>A c.753T>A (p.Phe251Leu) c.273T>A (p.Phe91Leu) c.54T>A (p.Phe18Leu) c.1078T>A c.242T>A (n.242T>A) c.747T>A (p.Phe249Leu) c.1125T>A (p.Phe375Leu) | |
| 8 | g.102208284del | CA2688143450 | RRM2B | c.909del (p.Gln304ArgfsTer14) n.296del c.753del (p.Gln252ArgfsTer14) c.273del (p.Gln92ArgfsTer14) c.54del (p.Gln19ArgfsTer14) c.1078del c.242del (n.242del) c.747del (p.Gln250ArgfsTer14) c.1125del (p.Gln376ArgfsTer14) | gnomAD v4 |
| 8 | g.102208281A>C | CA371586536 | RRM2B | c.908T>G (p.Phe303Cys) n.295T>G c.752T>G (p.Phe251Cys) c.272T>G (p.Phe91Cys) c.53T>G (p.Phe18Cys) c.1077T>G c.241T>G (n.241T>G) c.746T>G (p.Phe249Cys) c.1124T>G (p.Phe375Cys) | |
| 8 | g.102208281A>G | CA371586537 | RRM2B | c.908T>C (p.Phe303Ser) n.295T>C c.752T>C (p.Phe251Ser) c.272T>C (p.Phe91Ser) c.53T>C (p.Phe18Ser) c.1077T>C c.241T>C (n.241T>C) c.746T>C (p.Phe249Ser) c.1124T>C (p.Phe375Ser) | |
| 8 | g.102208281A>T | CA371586538 | RRM2B | c.908T>A (p.Phe303Tyr) n.295T>A c.752T>A (p.Phe251Tyr) c.272T>A (p.Phe91Tyr) c.53T>A (p.Phe18Tyr) c.1077T>A c.241T>A (n.241T>A) c.746T>A (p.Phe249Tyr) c.1124T>A (p.Phe375Tyr) | |
| 8 | g.102208282A>C | CA371586539 | RRM2B | c.907T>G (p.Phe303Val) n.294T>G c.751T>G (p.Phe251Val) c.271T>G (p.Phe91Val) c.52T>G (p.Phe18Val) c.1076T>G c.240T>G (n.240T>G) c.745T>G (p.Phe249Val) c.1123T>G (p.Phe375Val) | |
| 8 | g.102208282A>G | CA371586540 | RRM2B | c.907T>C (p.Phe303Leu) n.294T>C c.751T>C (p.Phe251Leu) c.271T>C (p.Phe91Leu) c.52T>C (p.Phe18Leu) c.1076T>C c.240T>C (n.240T>C) c.745T>C (p.Phe249Leu) c.1123T>C (p.Phe375Leu) | |
| 8 | g.102208282A>T | CA371586541 | RRM2B | c.907T>A (p.Phe303Ile) n.294T>A c.751T>A (p.Phe251Ile) c.271T>A (p.Phe91Ile) c.52T>A (p.Phe18Ile) c.1076T>A c.240T>A (n.240T>A) c.745T>A (p.Phe249Ile) c.1123T>A (p.Phe375Ile) | |
| 8 | g.102208283A>C | CA462124047 | RRM2B | c.906T>G (p.Val302=) n.293T>G c.750T>G (p.Val250=) c.270T>G (p.Val90=) c.51T>G (p.Val17=) c.1075T>G c.239T>G (n.239T>G) c.744T>G (p.Val248=) c.1122T>G (p.Val374=) | |
| 8 | g.102208283A>G | CA462124048 | RRM2B | c.906T>C (p.Val302=) n.293T>C c.750T>C (p.Val250=) c.270T>C (p.Val90=) c.51T>C (p.Val17=) c.1075T>C c.239T>C (n.239T>C) c.744T>C (p.Val248=) c.1122T>C (p.Val374=) | gnomAD v4 |
| 8 | g.102208283A>T | CA462124051 | RRM2B | c.906T>A (p.Val302=) n.293T>A c.750T>A (p.Val250=) c.270T>A (p.Val90=) c.51T>A (p.Val17=) c.1075T>A c.239T>A (n.239T>A) c.744T>A (p.Val248=) c.1122T>A (p.Val374=) | |
| 8 | g.102208284A>C | CA371586544 | RRM2B | c.905T>G (p.Val302Gly) n.292T>G c.749T>G (p.Val250Gly) c.269T>G (p.Val90Gly) c.50T>G (p.Val17Gly) c.1074T>G c.238T>G (n.238T>G) c.743T>G (p.Val248Gly) c.1121T>G (p.Val374Gly) | |
| 8 | g.102208284A>G | CA371586543 | RRM2B | c.905T>C (p.Val302Ala) n.292T>C c.749T>C (p.Val250Ala) c.269T>C (p.Val90Ala) c.50T>C (p.Val17Ala) c.1074T>C c.238T>C (n.238T>C) c.743T>C (p.Val248Ala) c.1121T>C (p.Val374Ala) | |
| 8 | g.102208284A>T | CA371586542 | RRM2B | c.905T>A (p.Val302Asp) n.292T>A c.749T>A (p.Val250Asp) c.269T>A (p.Val90Asp) c.50T>A (p.Val17Asp) c.1074T>A c.238T>A (n.238T>A) c.743T>A (p.Val248Asp) c.1121T>A (p.Val374Asp) | |
| 8 | g.102208285C>A | CA371586545 | RRM2B | c.904G>T (p.Val302Phe) n.291G>T c.748G>T (p.Val250Phe) c.268G>T (p.Val90Phe) c.49G>T (p.Val17Phe) c.1073G>T c.237G>T (n.237G>T) c.742G>T (p.Val248Phe) c.1120G>T (p.Val374Phe) | dbSNP |
| 8 | g.102208285C= | CA1806674699 | RRM2B | c.904G= (p.Val302=) n.291G= c.748G= (p.Val250=) c.268G= (p.Val90=) c.49G= (p.Val17=) c.1073G= c.237G= (n.237G=) c.742G= (p.Val248=) c.1120G= (p.Val374=) | |
| 8 | g.102208285C>G | CA371586546 | RRM2B | c.904G>C (p.Val302Leu) n.291G>C c.748G>C (p.Val250Leu) c.268G>C (p.Val90Leu) c.49G>C (p.Val17Leu) c.1073G>C c.237G>C (n.237G>C) c.742G>C (p.Val248Leu) c.1120G>C (p.Val374Leu) | |
| 8 | g.102208285C>T | CA371586547 | RRM2B | c.904G>A (p.Val302Ile) n.291G>A c.748G>A (p.Val250Ile) c.268G>A (p.Val90Ile) c.49G>A (p.Val17Ile) c.1073G>A c.237G>A (n.237G>A) c.742G>A (p.Val248Ile) c.1120G>A (p.Val374Ile) | gnomAD v4 |
| 8 | g.102208286C>A | CA371586548 | RRM2B | c.904-1G>T (n.904-1G>T) n.291-1G>T c.748-1G>T (n.748-1G>T) c.268-1G>T (n.268-1G>T) c.49-1G>T (n.49-1G>T) c.1073-1G>T c.237-1G>T (n.237-1G>T) c.742-1G>T (n.742-1G>T) c.1120-1G>T (n.1120-1G>T) | |
| 8 | g.102208286C>G | CA371586549 | RRM2B | c.904-1G>C (n.904-1G>C) n.291-1G>C c.748-1G>C (n.748-1G>C) c.268-1G>C (n.268-1G>C) c.49-1G>C (n.49-1G>C) c.1073-1G>C c.237-1G>C (n.237-1G>C) c.742-1G>C (n.742-1G>C) c.1120-1G>C (n.1120-1G>C) | |
| 8 | g.102208286C>T | CA371586550 | RRM2B | c.904-1G>A (n.904-1G>A) n.291-1G>A c.748-1G>A (n.748-1G>A) c.268-1G>A (n.268-1G>A) c.49-1G>A (n.49-1G>A) c.1073-1G>A c.237-1G>A (n.237-1G>A) c.742-1G>A (n.742-1G>A) c.1120-1G>A (n.1120-1G>A) | |
| 8 | g.102208287T>A | CA371586551 | RRM2B | c.904-2A>T (n.904-2A>T) n.291-2A>T c.748-2A>T (n.748-2A>T) c.268-2A>T (n.268-2A>T) c.49-2A>T (n.49-2A>T) c.1073-2A>T c.237-2A>T (n.237-2A>T) c.742-2A>T (n.742-2A>T) c.1120-2A>T (n.1120-2A>T) | |
| 8 | g.102208287T>C | CA371586553 | RRM2B | c.904-2A>G (n.904-2A>G) n.291-2A>G c.748-2A>G (n.748-2A>G) c.268-2A>G (n.268-2A>G) c.49-2A>G (n.49-2A>G) c.1073-2A>G c.237-2A>G (n.237-2A>G) c.742-2A>G (n.742-2A>G) c.1120-2A>G (n.1120-2A>G) | |
| 8 | g.102208287T>G | CA371586552 | RRM2B | c.904-2A>C (n.904-2A>C) n.291-2A>C c.748-2A>C (n.748-2A>C) c.268-2A>C (n.268-2A>C) c.49-2A>C (n.49-2A>C) c.1073-2A>C c.237-2A>C (n.237-2A>C) c.742-2A>C (n.742-2A>C) c.1120-2A>C (n.1120-2A>C) | |
| 8 | g.102208292del | CA2688143451 | RRM2B | c.904-3del (n.904-3del) n.291-3del c.748-3del (n.748-3del) c.268-3del (n.268-3del) c.49-3del (n.49-3del) c.1073-3del c.237-3del (n.237-3del) c.742-3del (n.742-3del) c.1120-3del (n.1120-3del) | gnomAD v4 |
| 8 | g.102208289A>G | CA2688143452 | RRM2B | c.904-4T>C (n.904-4T>C) n.291-4T>C c.748-4T>C (n.748-4T>C) c.268-4T>C (n.268-4T>C) c.49-4T>C (n.49-4T>C) c.1073-4T>C c.237-4T>C (n.237-4T>C) c.742-4T>C (n.742-4T>C) c.1120-4T>C (n.1120-4T>C) | gnomAD v4 |
| 8 | g.102208289_102208294delinsAAAAGG | CA1806674700 | RRM2B | c.904-9_904-4delinsCCTTTT (n.904-9_904-4delinsCCTTTT) n.291-9_291-4delinsCCTTTT c.748-9_748-4delinsCCTTTT (n.748-9_748-4delinsCCTTTT) c.268-9_268-4delinsCCTTTT (n.268-9_268-4delinsCCTTTT) c.49-9_49-4delinsCCTTTT (n.49-9_49-4delinsCCTTTT) c.1073-9_1073-4delinsCCTTTT c.237-9_237-4delinsCCTTTT (n.237-9_237-4delinsCCTTTT) c.742-9_742-4delinsCCTTTT (n.742-9_742-4delinsCCTTTT) c.1120-9_1120-4delinsCCTTTT (n.1120-9_1120-4delinsCCTTTT) | |
| 8 | g.102208294_102208298del | CA583906562 | RRM2B | c.904-9_904-5del (n.904-9_904-5del) n.291-9_291-5del c.748-9_748-5del (n.748-9_748-5del) c.268-9_268-5del (n.268-9_268-5del) c.49-9_49-5del (n.49-9_49-5del) c.1073-9_1073-5del c.237-9_237-5del (n.237-9_237-5del) c.742-9_742-5del (n.742-9_742-5del) c.1120-9_1120-5del (n.1120-9_1120-5del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208292A= | CA1806674701 | RRM2B | c.904-7T= (n.904-7T=) n.291-7T= c.748-7T= (n.748-7T=) c.268-7T= (n.268-7T=) c.49-7T= (n.49-7T=) c.1073-7T= c.237-7T= (n.237-7T=) c.742-7T= (n.742-7T=) c.1120-7T= (n.1120-7T=) | |
| 8 | g.102208292A>C | CA583906564 | RRM2B | c.904-7T>G (n.904-7T>G) n.291-7T>G c.748-7T>G (n.748-7T>G) c.268-7T>G (n.268-7T>G) c.49-7T>G (n.49-7T>G) c.1073-7T>G c.237-7T>G (n.237-7T>G) c.742-7T>G (n.742-7T>G) c.1120-7T>G (n.1120-7T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208293G>A | CA1806674703 | RRM2B | c.904-8C>T (n.904-8C>T) n.291-8C>T c.748-8C>T (n.748-8C>T) c.268-8C>T (n.268-8C>T) c.49-8C>T (n.49-8C>T) c.1073-8C>T c.237-8C>T (n.237-8C>T) c.742-8C>T (n.742-8C>T) c.1120-8C>T (n.1120-8C>T) | dbSNP |
| 8 | g.102208293G= | CA1806674702 | RRM2B | c.904-8C= (n.904-8C=) n.291-8C= c.748-8C= (n.748-8C=) c.268-8C= (n.268-8C=) c.49-8C= (n.49-8C=) c.1073-8C= c.237-8C= (n.237-8C=) c.742-8C= (n.742-8C=) c.1120-8C= (n.1120-8C=) | |
| 8 | g.102208293G>T | CA2688143454 | RRM2B | c.904-8C>A (n.904-8C>A) n.291-8C>A c.748-8C>A (n.748-8C>A) c.268-8C>A (n.268-8C>A) c.49-8C>A (n.49-8C>A) c.1073-8C>A c.237-8C>A (n.237-8C>A) c.742-8C>A (n.742-8C>A) c.1120-8C>A (n.1120-8C>A) | gnomAD v4 |
| 8 | g.102208294del | CA2688143453 | RRM2B | c.904-8del (n.904-8del) n.291-8del c.748-8del (n.748-8del) c.268-8del (n.268-8del) c.49-8del (n.49-8del) c.1073-8del c.237-8del (n.237-8del) c.742-8del (n.742-8del) c.1120-8del (n.1120-8del) | gnomAD v4 |
| 8 | g.102208294G>A | CA645553283 | RRM2B | c.904-9C>T (n.904-9C>T) n.291-9C>T c.748-9C>T (n.748-9C>T) c.268-9C>T (n.268-9C>T) c.49-9C>T (n.49-9C>T) c.1073-9C>T c.237-9C>T (n.237-9C>T) c.742-9C>T (n.742-9C>T) c.1120-9C>T (n.1120-9C>T) | ClinVar gnomAD v4 COSMIC |
| 8 | g.102208294G= | CA1806674704 | RRM2B | c.904-9C= (n.904-9C=) n.291-9C= c.748-9C= (n.748-9C=) c.268-9C= (n.268-9C=) c.49-9C= (n.49-9C=) c.1073-9C= c.237-9C= (n.237-9C=) c.742-9C= (n.742-9C=) c.1120-9C= (n.1120-9C=) | |
| 8 | g.102208294G>T | CA2688143455 | RRM2B | c.904-9C>A (n.904-9C>A) n.291-9C>A c.748-9C>A (n.748-9C>A) c.268-9C>A (n.268-9C>A) c.49-9C>A (n.49-9C>A) c.1073-9C>A c.237-9C>A (n.237-9C>A) c.742-9C>A (n.742-9C>A) c.1120-9C>A (n.1120-9C>A) | gnomAD v4 |
| 8 | g.102208295A>G | CA2688143456 | RRM2B | c.904-10T>C (n.904-10T>C) n.291-10T>C c.748-10T>C (n.748-10T>C) c.268-10T>C (n.268-10T>C) c.49-10T>C (n.49-10T>C) c.1073-10T>C c.237-10T>C (n.237-10T>C) c.742-10T>C (n.742-10T>C) c.1120-10T>C (n.1120-10T>C) | gnomAD v4 |
| 8 | g.102208295A>T | CA2688143457 | RRM2B | c.904-10T>A (n.904-10T>A) n.291-10T>A c.748-10T>A (n.748-10T>A) c.268-10T>A (n.268-10T>A) c.49-10T>A (n.49-10T>A) c.1073-10T>A c.237-10T>A (n.237-10T>A) c.742-10T>A (n.742-10T>A) c.1120-10T>A (n.1120-10T>A) | gnomAD v4 |
| 8 | g.102208297dup | CA583906567 | RRM2B | c.904-10dup (n.904-10dup) n.291-10dup c.748-10dup (n.748-10dup) c.268-10dup (n.268-10dup) c.49-10dup (n.49-10dup) c.1073-10dup c.237-10dup (n.237-10dup) c.742-10dup (n.742-10dup) c.1120-10dup (n.1120-10dup) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208297A= | CA1806674705 | RRM2B | c.904-12T= (n.904-12T=) n.291-12T= c.748-12T= (n.748-12T=) c.268-12T= (n.268-12T=) c.49-12T= (n.49-12T=) c.1073-12T= c.237-12T= (n.237-12T=) c.742-12T= (n.742-12T=) c.1120-12T= (n.1120-12T=) | |
| 8 | g.102208297A>G | CA182464229 | RRM2B | c.904-12T>C (n.904-12T>C) n.291-12T>C c.748-12T>C (n.748-12T>C) c.268-12T>C (n.268-12T>C) c.49-12T>C (n.49-12T>C) c.1073-12T>C c.237-12T>C (n.237-12T>C) c.742-12T>C (n.742-12T>C) c.1120-12T>C (n.1120-12T>C) | dbSNP gnomAD v4 |
| 8 | g.102208297_102208314delinsAGAAATATTATTAGACAT | CA1806674706 | RRM2B | c.904-29_904-12delinsATGTCTAATAATATTTCT (n.904-29_904-12delinsATGTCTAATAATATTTCT) n.291-29_291-12delinsATGTCTAATAATATTTCT c.748-29_748-12delinsATGTCTAATAATATTTCT (n.748-29_748-12delinsATGTCTAATAATATTTCT) c.268-29_268-12delinsATGTCTAATAATATTTCT (n.268-29_268-12delinsATGTCTAATAATATTTCT) c.49-29_49-12delinsATGTCTAATAATATTTCT (n.49-29_49-12delinsATGTCTAATAATATTTCT) c.1073-29_1073-12delinsATGTCTAATAATATTTCT c.237-29_237-12delinsATGTCTAATAATATTTCT (n.237-29_237-12delinsATGTCTAATAATATTTCT) c.742-29_742-12delinsATGTCTAATAATATTTCT (n.742-29_742-12delinsATGTCTAATAATATTTCT) c.1120-29_1120-12delinsATGTCTAATAATATTTCT (n.1120-29_1120-12delinsATGTCTAATAATATTTCT) | |
| 8 | g.102208298G= | CA1806674707 | RRM2B | c.904-13C= (n.904-13C=) n.291-13C= c.748-13C= (n.748-13C=) c.268-13C= (n.268-13C=) c.49-13C= (n.49-13C=) c.1073-13C= c.237-13C= (n.237-13C=) c.742-13C= (n.742-13C=) c.1120-13C= (n.1120-13C=) | |
| 8 | g.102208298G>T | CA1117296899 | RRM2B | c.904-13C>A (n.904-13C>A) n.291-13C>A c.748-13C>A (n.748-13C>A) c.268-13C>A (n.268-13C>A) c.49-13C>A (n.49-13C>A) c.1073-13C>A c.237-13C>A (n.237-13C>A) c.742-13C>A (n.742-13C>A) c.1120-13C>A (n.1120-13C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.102208298_102208314del | CA4830964 | RRM2B | c.904-29_904-13del (n.904-29_904-13del) n.291-29_291-13del c.748-29_748-13del (n.748-29_748-13del) c.268-29_268-13del (n.268-29_268-13del) c.49-29_49-13del (n.49-29_49-13del) c.1073-29_1073-13del c.237-29_237-13del (n.237-29_237-13del) c.742-29_742-13del (n.742-29_742-13del) c.1120-29_1120-13del (n.1120-29_1120-13del) | dbSNP ExAC |
| 8 | g.102208301A= | CA1806674708 | RRM2B | c.904-16T= (n.904-16T=) n.291-16T= c.748-16T= (n.748-16T=) c.268-16T= (n.268-16T=) c.49-16T= (n.49-16T=) c.1073-16T= c.237-16T= (n.237-16T=) c.742-16T= (n.742-16T=) c.1120-16T= (n.1120-16T=) | |
| 8 | g.102208301A>G | CA4830965 | RRM2B | c.904-16T>C (n.904-16T>C) n.291-16T>C c.748-16T>C (n.748-16T>C) c.268-16T>C (n.268-16T>C) c.49-16T>C (n.49-16T>C) c.1073-16T>C c.237-16T>C (n.237-16T>C) c.742-16T>C (n.742-16T>C) c.1120-16T>C (n.1120-16T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102208301_102208304delinsATAT | CA1806674709 | RRM2B | c.904-19_904-16delinsATAT (n.904-19_904-16delinsATAT) n.291-19_291-16delinsATAT c.748-19_748-16delinsATAT (n.748-19_748-16delinsATAT) c.268-19_268-16delinsATAT (n.268-19_268-16delinsATAT) c.49-19_49-16delinsATAT (n.49-19_49-16delinsATAT) c.1073-19_1073-16delinsATAT c.237-19_237-16delinsATAT (n.237-19_237-16delinsATAT) c.742-19_742-16delinsATAT (n.742-19_742-16delinsATAT) c.1120-19_1120-16delinsATAT (n.1120-19_1120-16delinsATAT) | |
| 8 | g.102208307_102208309del | CA844764807 | RRM2B | c.904-19_904-17del (n.904-19_904-17del) n.291-19_291-17del c.748-19_748-17del (n.748-19_748-17del) c.268-19_268-17del (n.268-19_268-17del) c.49-19_49-17del (n.49-19_49-17del) c.1073-19_1073-17del c.237-19_237-17del (n.237-19_237-17del) c.742-19_742-17del (n.742-19_742-17del) c.1120-19_1120-17del (n.1120-19_1120-17del) | dbSNP gnomAD v4 |
| 8 | g.102208305T>G | CA2739268937 | RRM2B | c.904-20A>C (n.904-20A>C) n.291-20A>C c.748-20A>C (n.748-20A>C) c.268-20A>C (n.268-20A>C) c.49-20A>C (n.49-20A>C) c.1073-20A>C c.237-20A>C (n.237-20A>C) c.742-20A>C (n.742-20A>C) c.1120-20A>C (n.1120-20A>C) | ClinVar |
| 8 | g.102208307T>C | CA2688143459 | RRM2B | c.904-22A>G (n.904-22A>G) n.291-22A>G c.748-22A>G (n.748-22A>G) c.268-22A>G (n.268-22A>G) c.49-22A>G (n.49-22A>G) c.1073-22A>G c.237-22A>G (n.237-22A>G) c.742-22A>G (n.742-22A>G) c.1120-22A>G (n.1120-22A>G) | gnomAD v4 |
| 8 | g.102208308del | CA2688143458 | RRM2B | c.904-22del (n.904-22del) n.291-22del c.748-22del (n.748-22del) c.268-22del (n.268-22del) c.49-22del (n.49-22del) c.1073-22del c.237-22del (n.237-22del) c.742-22del (n.742-22del) c.1120-22del (n.1120-22del) | gnomAD v4 |
| 8 | g.102208308T>C | CA1117296901 | RRM2B | c.904-23A>G (n.904-23A>G) n.291-23A>G c.748-23A>G (n.748-23A>G) c.268-23A>G (n.268-23A>G) c.49-23A>G (n.49-23A>G) c.1073-23A>G c.237-23A>G (n.237-23A>G) c.742-23A>G (n.742-23A>G) c.1120-23A>G (n.1120-23A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.102208308T= | CA1806674710 | RRM2B | c.904-23A= (n.904-23A=) n.291-23A= c.748-23A= (n.748-23A=) c.268-23A= (n.268-23A=) c.49-23A= (n.49-23A=) c.1073-23A= c.237-23A= (n.237-23A=) c.742-23A= (n.742-23A=) c.1120-23A= (n.1120-23A=) | |
| 8 | g.102208309A= | CA1806674711 | RRM2B | c.904-24T= (n.904-24T=) n.291-24T= c.748-24T= (n.748-24T=) c.268-24T= (n.268-24T=) c.49-24T= (n.49-24T=) c.1073-24T= c.237-24T= (n.237-24T=) c.742-24T= (n.742-24T=) c.1120-24T= (n.1120-24T=) | |
| 8 | g.102208309A>C | CA182464247 | RRM2B | c.904-24T>G (n.904-24T>G) n.291-24T>G c.748-24T>G (n.748-24T>G) c.268-24T>G (n.268-24T>G) c.49-24T>G (n.49-24T>G) c.1073-24T>G c.237-24T>G (n.237-24T>G) c.742-24T>G (n.742-24T>G) c.1120-24T>G (n.1120-24T>G) | dbSNP |
| 8 | g.102208310G>A | CA4830966 | RRM2B | c.904-25C>T (n.904-25C>T) n.291-25C>T c.748-25C>T (n.748-25C>T) c.268-25C>T (n.268-25C>T) c.49-25C>T (n.49-25C>T) c.1073-25C>T c.237-25C>T (n.237-25C>T) c.742-25C>T (n.742-25C>T) c.1120-25C>T (n.1120-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102208310G>C | CA2688143460 | RRM2B | c.904-25C>G (n.904-25C>G) n.291-25C>G c.748-25C>G (n.748-25C>G) c.268-25C>G (n.268-25C>G) c.49-25C>G (n.49-25C>G) c.1073-25C>G c.237-25C>G (n.237-25C>G) c.742-25C>G (n.742-25C>G) c.1120-25C>G (n.1120-25C>G) | gnomAD v4 |
| 8 | g.102208310G= | CA1806674712 | RRM2B | c.904-25C= (n.904-25C=) n.291-25C= c.748-25C= (n.748-25C=) c.268-25C= (n.268-25C=) c.49-25C= (n.49-25C=) c.1073-25C= c.237-25C= (n.237-25C=) c.742-25C= (n.742-25C=) c.1120-25C= (n.1120-25C=) | |
| 8 | g.102208311A= | CA1806674713 | RRM2B | c.904-26T= (n.904-26T=) n.291-26T= c.748-26T= (n.748-26T=) c.268-26T= (n.268-26T=) c.49-26T= (n.49-26T=) c.1073-26T= c.237-26T= (n.237-26T=) c.742-26T= (n.742-26T=) c.1120-26T= (n.1120-26T=) | |
| 8 | g.102208311A>G | CA4830967 | RRM2B | c.904-26T>C (n.904-26T>C) n.291-26T>C c.748-26T>C (n.748-26T>C) c.268-26T>C (n.268-26T>C) c.49-26T>C (n.49-26T>C) c.1073-26T>C c.237-26T>C (n.237-26T>C) c.742-26T>C (n.742-26T>C) c.1120-26T>C (n.1120-26T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102208312C= | CA1806674714 | RRM2B | c.904-27G= (n.904-27G=) n.291-27G= c.748-27G= (n.748-27G=) c.268-27G= (n.268-27G=) c.49-27G= (n.49-27G=) c.1073-27G= c.237-27G= (n.237-27G=) c.742-27G= (n.742-27G=) c.1120-27G= (n.1120-27G=) | |
| 8 | g.102208312C>T | CA583906587 | RRM2B | c.904-27G>A (n.904-27G>A) n.291-27G>A c.748-27G>A (n.748-27G>A) c.268-27G>A (n.268-27G>A) c.49-27G>A (n.49-27G>A) c.1073-27G>A c.237-27G>A (n.237-27G>A) c.742-27G>A (n.742-27G>A) c.1120-27G>A (n.1120-27G>A) | dbSNP gnomAD v2 |
| 8 | g.102208313A>G | CA2579221161 | RRM2B | c.904-28T>C (n.904-28T>C) n.291-28T>C c.748-28T>C (n.748-28T>C) c.268-28T>C (n.268-28T>C) c.49-28T>C (n.49-28T>C) c.1073-28T>C c.237-28T>C (n.237-28T>C) c.742-28T>C (n.742-28T>C) c.1120-28T>C (n.1120-28T>C) | |
| 8 | g.102208314T>C | CA2688143461 | RRM2B | c.904-29A>G (n.904-29A>G) n.291-29A>G c.748-29A>G (n.748-29A>G) c.268-29A>G (n.268-29A>G) c.49-29A>G (n.49-29A>G) c.1073-29A>G c.237-29A>G (n.237-29A>G) c.742-29A>G (n.742-29A>G) c.1120-29A>G (n.1120-29A>G) | gnomAD v4 |
| 8 | g.102208316C>T | CA2579221162 | RRM2B | c.904-31G>A (n.904-31G>A) n.291-31G>A c.748-31G>A (n.748-31G>A) c.268-31G>A (n.268-31G>A) c.49-31G>A (n.49-31G>A) c.1073-31G>A c.237-31G>A (n.237-31G>A) c.742-31G>A (n.742-31G>A) c.1120-31G>A (n.1120-31G>A) | |
| 8 | g.102208317T>C | CA2688143462 | RRM2B | c.904-32A>G (n.904-32A>G) n.291-32A>G c.748-32A>G (n.748-32A>G) c.268-32A>G (n.268-32A>G) c.49-32A>G (n.49-32A>G) c.1073-32A>G c.237-32A>G (n.237-32A>G) c.742-32A>G (n.742-32A>G) c.1120-32A>G (n.1120-32A>G) | gnomAD v4 |
| 8 | g.102208317T>G | CA2688143463 | RRM2B | c.904-32A>C (n.904-32A>C) n.291-32A>C c.748-32A>C (n.748-32A>C) c.268-32A>C (n.268-32A>C) c.49-32A>C (n.49-32A>C) c.1073-32A>C c.237-32A>C (n.237-32A>C) c.742-32A>C (n.742-32A>C) c.1120-32A>C (n.1120-32A>C) | gnomAD v4 |