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.102208135A>C | CA371585168 | RRM2B | c.1054T>G (p.Ter352Glu) n.441T>G c.898T>G (p.Ter300Glu) c.418T>G (p.Ter140Glu) c.199T>G (p.Ter67Glu) c.1223T>G c.387T>G (n.387T>G) c.892T>G (p.Ter298Glu) c.1270T>G (p.Ter424Glu) | |
| 8 | g.102208135A>G | CA371585170 | RRM2B | c.1054T>C (p.Ter352Gln) n.441T>C c.898T>C (p.Ter300Gln) c.418T>C (p.Ter140Gln) c.199T>C (p.Ter67Gln) c.1223T>C c.387T>C (n.387T>C) c.892T>C (p.Ter298Gln) c.1270T>C (p.Ter424Gln) | |
| 8 | g.102208135A>T | CA371585171 | RRM2B | c.1054T>A (p.Ter352Lys) n.441T>A c.898T>A (p.Ter300Lys) c.418T>A (p.Ter140Lys) c.199T>A (p.Ter67Lys) c.1223T>A c.387T>A (n.387T>A) c.892T>A (p.Ter298Lys) c.1270T>A (p.Ter424Lys) | |
| 8 | g.102208136A>C | CA371585174 | RRM2B | c.1053T>G (p.Phe351Leu) n.440T>G c.897T>G (p.Phe299Leu) c.417T>G (p.Phe139Leu) c.198T>G (p.Phe66Leu) c.1222T>G c.386T>G (n.386T>G) c.891T>G (p.Phe297Leu) c.1269T>G (p.Phe423Leu) | |
| 8 | g.102208136A>G | CA462123650 | RRM2B | c.1053T>C (p.Phe351=) n.440T>C c.897T>C (p.Phe299=) c.417T>C (p.Phe139=) c.198T>C (p.Phe66=) c.1222T>C c.386T>C (n.386T>C) c.891T>C (p.Phe297=) c.1269T>C (p.Phe423=) | |
| 8 | g.102208136A>T | CA371585172 | RRM2B | c.1053T>A (p.Phe351Leu) n.440T>A c.897T>A (p.Phe299Leu) c.417T>A (p.Phe139Leu) c.198T>A (p.Phe66Leu) c.1222T>A c.386T>A (n.386T>A) c.891T>A (p.Phe297Leu) c.1269T>A (p.Phe423Leu) | |
| 8 | g.102208137A>C | CA371585176 | RRM2B | c.1052T>G (p.Phe351Cys) n.439T>G c.896T>G (p.Phe299Cys) c.416T>G (p.Phe139Cys) c.197T>G (p.Phe66Cys) c.1221T>G c.385T>G (n.385T>G) c.890T>G (p.Phe297Cys) c.1268T>G (p.Phe423Cys) | |
| 8 | g.102208137A>G | CA371585178 | RRM2B | c.1052T>C (p.Phe351Ser) n.439T>C c.896T>C (p.Phe299Ser) c.416T>C (p.Phe139Ser) c.197T>C (p.Phe66Ser) c.1221T>C c.385T>C (n.385T>C) c.890T>C (p.Phe297Ser) c.1268T>C (p.Phe423Ser) | |
| 8 | g.102208137A>T | CA371585177 | RRM2B | c.1052T>A (p.Phe351Tyr) n.439T>A c.896T>A (p.Phe299Tyr) c.416T>A (p.Phe139Tyr) c.197T>A (p.Phe66Tyr) c.1221T>A c.385T>A (n.385T>A) c.890T>A (p.Phe297Tyr) c.1268T>A (p.Phe423Tyr) | |
| 8 | g.102208138A>C | CA371585179 | RRM2B | c.1051T>G (p.Phe351Val) n.438T>G c.895T>G (p.Phe299Val) c.415T>G (p.Phe139Val) c.196T>G (p.Phe66Val) c.1220T>G c.384T>G (n.384T>G) c.889T>G (p.Phe297Val) c.1267T>G (p.Phe423Val) | |
| 8 | g.102208138A>G | CA371585181 | RRM2B | c.1051T>C (p.Phe351Leu) n.438T>C c.895T>C (p.Phe299Leu) c.415T>C (p.Phe139Leu) c.196T>C (p.Phe66Leu) c.1220T>C c.384T>C (n.384T>C) c.889T>C (p.Phe297Leu) c.1267T>C (p.Phe423Leu) | |
| 8 | g.102208138A>T | CA371585180 | RRM2B | c.1051T>A (p.Phe351Ile) n.438T>A c.895T>A (p.Phe299Ile) c.415T>A (p.Phe139Ile) c.196T>A (p.Phe66Ile) c.1220T>A c.384T>A (n.384T>A) c.889T>A (p.Phe297Ile) c.1267T>A (p.Phe423Ile) | |
| 8 | g.102208139A>C | CA371585182 | RRM2B | c.1050T>G (p.Asp350Glu) n.437T>G c.894T>G (p.Asp298Glu) c.414T>G (p.Asp138Glu) c.195T>G (p.Asp65Glu) c.1219T>G c.383T>G (n.383T>G) c.888T>G (p.Asp296Glu) c.1266T>G (p.Asp422Glu) | |
| 8 | g.102208139A>G | CA462123651 | RRM2B | c.1050T>C (p.Asp350=) n.437T>C c.894T>C (p.Asp298=) c.414T>C (p.Asp138=) c.195T>C (p.Asp65=) c.1219T>C c.383T>C (n.383T>C) c.888T>C (p.Asp296=) c.1266T>C (p.Asp422=) | gnomAD v4 |
| 8 | g.102208139A>T | CA371585183 | RRM2B | c.1050T>A (p.Asp350Glu) n.437T>A c.894T>A (p.Asp298Glu) c.414T>A (p.Asp138Glu) c.195T>A (p.Asp65Glu) c.1219T>A c.383T>A (n.383T>A) c.888T>A (p.Asp296Glu) c.1266T>A (p.Asp422Glu) | |
| 8 | g.102208140T>A | CA371585184 | RRM2B | c.1049A>T (p.Asp350Val) n.436A>T c.893A>T (p.Asp298Val) c.413A>T (p.Asp138Val) c.194A>T (p.Asp65Val) c.1218A>T c.382A>T (n.382A>T) c.887A>T (p.Asp296Val) c.1265A>T (p.Asp422Val) | |
| 8 | g.102208140T>C | CA371585185 | RRM2B | c.1049A>G (p.Asp350Gly) n.436A>G c.893A>G (p.Asp298Gly) c.413A>G (p.Asp138Gly) c.194A>G (p.Asp65Gly) c.1218A>G c.382A>G (n.382A>G) c.887A>G (p.Asp296Gly) c.1265A>G (p.Asp422Gly) | |
| 8 | g.102208140T>G | CA371585186 | RRM2B | c.1049A>C (p.Asp350Ala) n.436A>C c.893A>C (p.Asp298Ala) c.413A>C (p.Asp138Ala) c.194A>C (p.Asp65Ala) c.1218A>C c.382A>C (n.382A>C) c.887A>C (p.Asp296Ala) c.1265A>C (p.Asp422Ala) | |
| 8 | g.102208141C>A | CA371585187 | RRM2B | c.1048G>T (p.Asp350Tyr) n.435G>T c.892G>T (p.Asp298Tyr) c.412G>T (p.Asp138Tyr) c.193G>T (p.Asp65Tyr) c.1217G>T c.381G>T (n.381G>T) c.886G>T (p.Asp296Tyr) c.1264G>T (p.Asp422Tyr) | |
| 8 | g.102208141C>G | CA371585188 | RRM2B | c.1048G>C (p.Asp350His) n.435G>C c.892G>C (p.Asp298His) c.412G>C (p.Asp138His) c.193G>C (p.Asp65His) c.1217G>C c.381G>C (n.381G>C) c.886G>C (p.Asp296His) c.1264G>C (p.Asp422His) | |
| 8 | g.102208141C>T | CA371585189 | RRM2B | c.1048G>A (p.Asp350Asn) n.435G>A c.892G>A (p.Asp298Asn) c.412G>A (p.Asp138Asn) c.193G>A (p.Asp65Asn) c.1217G>A c.381G>A (n.381G>A) c.886G>A (p.Asp296Asn) c.1264G>A (p.Asp422Asn) | |
| 8 | g.102208142T>A | CA462123655 | RRM2B | c.1047A>T (p.Ala349=) n.434A>T c.891A>T (p.Ala297=) c.411A>T (p.Ala137=) c.192A>T (p.Ala64=) c.1216A>T c.380A>T (n.380A>T) c.885A>T (p.Ala295=) c.1263A>T (p.Ala421=) | |
| 8 | g.102208142T>C | CA462123657 | RRM2B | c.1047A>G (p.Ala349=) n.434A>G c.891A>G (p.Ala297=) c.411A>G (p.Ala137=) c.192A>G (p.Ala64=) c.1216A>G c.380A>G (n.380A>G) c.885A>G (p.Ala295=) c.1263A>G (p.Ala421=) | |
| 8 | g.102208142T>G | CA462123656 | RRM2B | c.1047A>C (p.Ala349=) n.434A>C c.891A>C (p.Ala297=) c.411A>C (p.Ala137=) c.192A>C (p.Ala64=) c.1216A>C c.380A>C (n.380A>C) c.885A>C (p.Ala295=) c.1263A>C (p.Ala421=) | |
| 8 | g.102208143G>A | CA371585190 | RRM2B | c.1046C>T (p.Ala349Val) n.433C>T c.890C>T (p.Ala297Val) c.410C>T (p.Ala137Val) c.191C>T (p.Ala64Val) c.1215C>T c.379C>T (n.379C>T) c.884C>T (p.Ala295Val) c.1262C>T (p.Ala421Val) | COSMIC |
| 8 | g.102208143G>C | CA345627 | RRM2B | c.1046C>G (p.Ala349Gly) n.433C>G c.890C>G (p.Ala297Gly) c.410C>G (p.Ala137Gly) c.191C>G (p.Ala64Gly) c.1215C>G c.379C>G (n.379C>G) c.884C>G (p.Ala295Gly) c.1262C>G (p.Ala421Gly) | ClinVar dbSNP |
| 8 | g.102208143G= | CA1806674661 | RRM2B | c.1046C= (p.Ala349=) n.433C= c.890C= (p.Ala297=) c.410C= (p.Ala137=) c.191C= (p.Ala64=) c.1215C= c.379C= (n.379C=) c.884C= (p.Ala295=) c.1262C= (p.Ala421=) | |
| 8 | g.102208143G>T | CA371585192 | RRM2B | c.1046C>A (p.Ala349Glu) n.433C>A c.890C>A (p.Ala297Glu) c.410C>A (p.Ala137Glu) c.191C>A (p.Ala64Glu) c.1215C>A c.379C>A (n.379C>A) c.884C>A (p.Ala295Glu) c.1262C>A (p.Ala421Glu) | COSMIC |
| 8 | g.102208144C>A | CA371585194 | RRM2B | c.1045G>T (p.Ala349Ser) n.432G>T c.889G>T (p.Ala297Ser) c.409G>T (p.Ala137Ser) c.190G>T (p.Ala64Ser) c.1214G>T c.378G>T (n.378G>T) c.883G>T (p.Ala295Ser) c.1261G>T (p.Ala421Ser) | |
| 8 | g.102208144C>G | CA371585195 | RRM2B | c.1045G>C (p.Ala349Pro) n.432G>C c.889G>C (p.Ala297Pro) c.409G>C (p.Ala137Pro) c.190G>C (p.Ala64Pro) c.1214G>C c.378G>C (n.378G>C) c.883G>C (p.Ala295Pro) c.1261G>C (p.Ala421Pro) | |
| 8 | g.102208144C>T | CA371585199 | RRM2B | c.1045G>A (p.Ala349Thr) n.432G>A c.889G>A (p.Ala297Thr) c.409G>A (p.Ala137Thr) c.190G>A (p.Ala64Thr) c.1214G>A c.378G>A (n.378G>A) c.883G>A (p.Ala295Thr) c.1261G>A (p.Ala421Thr) | |
| 8 | g.102208145A>C | CA371585202 | RRM2B | c.1044T>G (p.Asp348Glu) n.431T>G c.888T>G (p.Asp296Glu) c.408T>G (p.Asp136Glu) c.189T>G (p.Asp63Glu) c.1213T>G c.377T>G (n.377T>G) c.882T>G (p.Asp294Glu) c.1260T>G (p.Asp420Glu) | gnomAD v4 |
| 8 | g.102208145A>G | CA462123659 | RRM2B | c.1044T>C (p.Asp348=) n.431T>C c.888T>C (p.Asp296=) c.408T>C (p.Asp136=) c.189T>C (p.Asp63=) c.1213T>C c.377T>C (n.377T>C) c.882T>C (p.Asp294=) c.1260T>C (p.Asp420=) | gnomAD v4 |
| 8 | g.102208145A>T | CA371585204 | RRM2B | c.1044T>A (p.Asp348Glu) n.431T>A c.888T>A (p.Asp296Glu) c.408T>A (p.Asp136Glu) c.189T>A (p.Asp63Glu) c.1213T>A c.377T>A (n.377T>A) c.882T>A (p.Asp294Glu) c.1260T>A (p.Asp420Glu) | |
| 8 | g.102208146T>A | CA371585206 | RRM2B | c.1043A>T (p.Asp348Val) n.430A>T c.887A>T (p.Asp296Val) c.407A>T (p.Asp136Val) c.188A>T (p.Asp63Val) c.1212A>T c.376A>T (n.376A>T) c.881A>T (p.Asp294Val) c.1259A>T (p.Asp420Val) | |
| 8 | g.102208146T>C | CA371585208 | RRM2B | c.1043A>G (p.Asp348Gly) n.430A>G c.887A>G (p.Asp296Gly) c.407A>G (p.Asp136Gly) c.188A>G (p.Asp63Gly) c.1212A>G c.376A>G (n.376A>G) c.881A>G (p.Asp294Gly) c.1259A>G (p.Asp420Gly) | |
| 8 | g.102208146T>G | CA371585209 | RRM2B | c.1043A>C (p.Asp348Ala) n.430A>C c.887A>C (p.Asp296Ala) c.407A>C (p.Asp136Ala) c.188A>C (p.Asp63Ala) c.1212A>C c.376A>C (n.376A>C) c.881A>C (p.Asp294Ala) c.1259A>C (p.Asp420Ala) | |
| 8 | g.102208147C>A | CA371585210 | RRM2B | c.1042G>T (p.Asp348Tyr) n.429G>T c.886G>T (p.Asp296Tyr) c.406G>T (p.Asp136Tyr) c.187G>T (p.Asp63Tyr) c.1211G>T c.375G>T (n.375G>T) c.880G>T (p.Asp294Tyr) c.1258G>T (p.Asp420Tyr) | |
| 8 | g.102208147C>G | CA371585211 | RRM2B | c.1042G>C (p.Asp348His) n.429G>C c.886G>C (p.Asp296His) c.406G>C (p.Asp136His) c.187G>C (p.Asp63His) c.1211G>C c.375G>C (n.375G>C) c.880G>C (p.Asp294His) c.1258G>C (p.Asp420His) | |
| 8 | g.102208147C>T | CA371585213 | RRM2B | c.1042G>A (p.Asp348Asn) n.429G>A c.886G>A (p.Asp296Asn) c.406G>A (p.Asp136Asn) c.187G>A (p.Asp63Asn) c.1211G>A c.375G>A (n.375G>A) c.880G>A (p.Asp294Asn) c.1258G>A (p.Asp420Asn) | |
| 8 | g.102208148C>A | CA371585215 | RRM2B | c.1041G>T (p.Leu347Phe) n.428G>T c.885G>T (p.Leu295Phe) c.405G>T (p.Leu135Phe) c.186G>T (p.Leu62Phe) c.1210G>T c.374G>T (n.374G>T) c.879G>T (p.Leu293Phe) c.1257G>T (p.Leu419Phe) | |
| 8 | g.102208148C>G | CA371585216 | RRM2B | c.1041G>C (p.Leu347Phe) n.428G>C c.885G>C (p.Leu295Phe) c.405G>C (p.Leu135Phe) c.186G>C (p.Leu62Phe) c.1210G>C c.374G>C (n.374G>C) c.879G>C (p.Leu293Phe) c.1257G>C (p.Leu419Phe) | |
| 8 | g.102208148C>T | CA462123661 | RRM2B | c.1041G>A (p.Leu347=) n.428G>A c.885G>A (p.Leu295=) c.405G>A (p.Leu135=) c.186G>A (p.Leu62=) c.1210G>A c.374G>A (n.374G>A) c.879G>A (p.Leu293=) c.1257G>A (p.Leu419=) | gnomAD v4 |
| 8 | g.102208149A>C | CA371585222 | RRM2B | c.1040T>G (p.Leu347Trp) n.427T>G c.884T>G (p.Leu295Trp) c.404T>G (p.Leu135Trp) c.185T>G (p.Leu62Trp) c.1209T>G c.373T>G (n.373T>G) c.878T>G (p.Leu293Trp) c.1256T>G (p.Leu419Trp) | ClinVar |
| 8 | g.102208149A>G | CA371585224 | RRM2B | c.1040T>C (p.Leu347Ser) n.427T>C c.884T>C (p.Leu295Ser) c.404T>C (p.Leu135Ser) c.185T>C (p.Leu62Ser) c.1209T>C c.373T>C (n.373T>C) c.878T>C (p.Leu293Ser) c.1256T>C (p.Leu419Ser) | |
| 8 | g.102208149A>T | CA371585226 | RRM2B | c.1040T>A (p.Leu347Ter) n.427T>A c.884T>A (p.Leu295Ter) c.404T>A (p.Leu135Ter) c.185T>A (p.Leu62Ter) c.1209T>A c.373T>A (n.373T>A) c.878T>A (p.Leu293Ter) c.1256T>A (p.Leu419Ter) | |
| 8 | g.102208150A>C | CA371585229 | RRM2B | c.1039T>G (p.Leu347Val) n.426T>G c.883T>G (p.Leu295Val) c.403T>G (p.Leu135Val) c.184T>G (p.Leu62Val) c.1208T>G c.372T>G (n.372T>G) c.877T>G (p.Leu293Val) c.1255T>G (p.Leu419Val) | |
| 8 | g.102208150A>G | CA462123665 | RRM2B | c.1039T>C (p.Leu347=) n.426T>C c.883T>C (p.Leu295=) c.403T>C (p.Leu135=) c.184T>C (p.Leu62=) c.1208T>C c.372T>C (n.372T>C) c.877T>C (p.Leu293=) c.1255T>C (p.Leu419=) | |
| 8 | g.102208150A>T | CA371585228 | RRM2B | c.1039T>A (p.Leu347Met) n.426T>A c.883T>A (p.Leu295Met) c.403T>A (p.Leu135Met) c.184T>A (p.Leu62Met) c.1208T>A c.372T>A (n.372T>A) c.877T>A (p.Leu293Met) c.1255T>A (p.Leu419Met) | |
| 8 | g.102208151G>A | CA462123666 | RRM2B | c.1038C>T (p.Thr346=) n.425C>T c.882C>T (p.Thr294=) c.402C>T (p.Thr134=) c.183C>T (p.Thr61=) c.1207C>T c.371C>T (n.371C>T) c.876C>T (p.Thr292=) c.1254C>T (p.Thr418=) | |
| 8 | g.102208151G>C | CA462123667 | RRM2B | c.1038C>G (p.Thr346=) n.425C>G c.882C>G (p.Thr294=) c.402C>G (p.Thr134=) c.183C>G (p.Thr61=) c.1207C>G c.371C>G (n.371C>G) c.876C>G (p.Thr292=) c.1254C>G (p.Thr418=) | dbSNP gnomAD v4 |
| 8 | g.102208151G= | CA1806674662 | RRM2B | c.1038C= (p.Thr346=) n.425C= c.882C= (p.Thr294=) c.402C= (p.Thr134=) c.183C= (p.Thr61=) c.1207C= c.371C= (n.371C=) c.876C= (p.Thr292=) c.1254C= (p.Thr418=) | |
| 8 | g.102208151G>T | CA462123668 | RRM2B | c.1038C>A (p.Thr346=) n.425C>A c.882C>A (p.Thr294=) c.402C>A (p.Thr134=) c.183C>A (p.Thr61=) c.1207C>A c.371C>A (n.371C>A) c.876C>A (p.Thr292=) c.1254C>A (p.Thr418=) | |
| 8 | g.102208152G>A | CA371585231 | RRM2B | c.1037C>T (p.Thr346Ile) n.424C>T c.881C>T (p.Thr294Ile) c.401C>T (p.Thr134Ile) c.182C>T (p.Thr61Ile) c.1206C>T c.370C>T (n.370C>T) c.875C>T (p.Thr292Ile) c.1253C>T (p.Thr418Ile) | gnomAD v4 |
| 8 | g.102208152G>C | CA371585233 | RRM2B | c.1037C>G (p.Thr346Ser) n.424C>G c.881C>G (p.Thr294Ser) c.401C>G (p.Thr134Ser) c.182C>G (p.Thr61Ser) c.1206C>G c.370C>G (n.370C>G) c.875C>G (p.Thr292Ser) c.1253C>G (p.Thr418Ser) | |
| 8 | g.102208152G>T | CA371585235 | RRM2B | c.1037C>A (p.Thr346Asn) n.424C>A c.881C>A (p.Thr294Asn) c.401C>A (p.Thr134Asn) c.182C>A (p.Thr61Asn) c.1206C>A c.370C>A (n.370C>A) c.875C>A (p.Thr292Asn) c.1253C>A (p.Thr418Asn) | |
| 8 | g.102208153T>A | CA371585238 | RRM2B | c.1036A>T (p.Thr346Ser) n.423A>T c.880A>T (p.Thr294Ser) c.400A>T (p.Thr134Ser) c.181A>T (p.Thr61Ser) c.1205A>T c.369A>T (n.369A>T) c.874A>T (p.Thr292Ser) c.1252A>T (p.Thr418Ser) | |
| 8 | g.102208153T>C | CA371585239 | RRM2B | c.1036A>G (p.Thr346Ala) n.423A>G c.880A>G (p.Thr294Ala) c.400A>G (p.Thr134Ala) c.181A>G (p.Thr61Ala) c.1205A>G c.369A>G (n.369A>G) c.874A>G (p.Thr292Ala) c.1252A>G (p.Thr418Ala) | |
| 8 | g.102208153T>G | CA371585241 | RRM2B | c.1036A>C (p.Thr346Pro) n.423A>C c.880A>C (p.Thr294Pro) c.400A>C (p.Thr134Pro) c.181A>C (p.Thr61Pro) c.1205A>C c.369A>C (n.369A>C) c.874A>C (p.Thr292Pro) c.1252A>C (p.Thr418Pro) | |
| 8 | g.102208154G>A | CA4830956 | RRM2B | c.1035C>T (p.Phe345=) n.422C>T c.879C>T (p.Phe293=) c.399C>T (p.Phe133=) c.180C>T (p.Phe60=) c.1204C>T c.368C>T (n.368C>T) c.873C>T (p.Phe291=) c.1251C>T (p.Phe417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208154G>C | CA371585244 | RRM2B | c.1035C>G (p.Phe345Leu) n.422C>G c.879C>G (p.Phe293Leu) c.399C>G (p.Phe133Leu) c.180C>G (p.Phe60Leu) c.1204C>G c.368C>G (n.368C>G) c.873C>G (p.Phe291Leu) c.1251C>G (p.Phe417Leu) | |
| 8 | g.102208154G= | CA1806674663 | RRM2B | c.1035C= (p.Phe345=) n.422C= c.879C= (p.Phe293=) c.399C= (p.Phe133=) c.180C= (p.Phe60=) c.1204C= c.368C= (n.368C=) c.873C= (p.Phe291=) c.1251C= (p.Phe417=) | |
| 8 | g.102208154G>T | CA371585246 | RRM2B | c.1035C>A (p.Phe345Leu) n.422C>A c.879C>A (p.Phe293Leu) c.399C>A (p.Phe133Leu) c.180C>A (p.Phe60Leu) c.1204C>A c.368C>A (n.368C>A) c.873C>A (p.Phe291Leu) c.1251C>A (p.Phe417Leu) | |
| 8 | g.102208155A>C | CA371585249 | RRM2B | c.1034T>G (p.Phe345Cys) n.421T>G c.878T>G (p.Phe293Cys) c.398T>G (p.Phe133Cys) c.179T>G (p.Phe60Cys) c.1203T>G c.367T>G (n.367T>G) c.872T>G (p.Phe291Cys) c.1250T>G (p.Phe417Cys) | |
| 8 | g.102208155A>G | CA371585251 | RRM2B | c.1034T>C (p.Phe345Ser) n.421T>C c.878T>C (p.Phe293Ser) c.398T>C (p.Phe133Ser) c.179T>C (p.Phe60Ser) c.1203T>C c.367T>C (n.367T>C) c.872T>C (p.Phe291Ser) c.1250T>C (p.Phe417Ser) | |
| 8 | g.102208155A>T | CA371585253 | RRM2B | c.1034T>A (p.Phe345Tyr) n.421T>A c.878T>A (p.Phe293Tyr) c.398T>A (p.Phe133Tyr) c.179T>A (p.Phe60Tyr) c.1203T>A c.367T>A (n.367T>A) c.872T>A (p.Phe291Tyr) c.1250T>A (p.Phe417Tyr) | |
| 8 | g.102208156A>C | CA371585259 | RRM2B | c.1033T>G (p.Phe345Val) n.420T>G c.877T>G (p.Phe293Val) c.397T>G (p.Phe133Val) c.178T>G (p.Phe60Val) c.1202T>G c.366T>G (n.366T>G) c.871T>G (p.Phe291Val) c.1249T>G (p.Phe417Val) | |
| 8 | g.102208156A>G | CA371585256 | RRM2B | c.1033T>C (p.Phe345Leu) n.420T>C c.877T>C (p.Phe293Leu) c.397T>C (p.Phe133Leu) c.178T>C (p.Phe60Leu) c.1202T>C c.366T>C (n.366T>C) c.871T>C (p.Phe291Leu) c.1249T>C (p.Phe417Leu) | |
| 8 | g.102208156A>T | CA371585257 | RRM2B | c.1033T>A (p.Phe345Ile) n.420T>A c.877T>A (p.Phe293Ile) c.397T>A (p.Phe133Ile) c.178T>A (p.Phe60Ile) c.1202T>A c.366T>A (n.366T>A) c.871T>A (p.Phe291Ile) c.1249T>A (p.Phe417Ile) | |
| 8 | g.102208157G>A | CA462123670 | RRM2B | c.1032C>T (p.Val344=) n.419C>T c.876C>T (p.Val292=) c.396C>T (p.Val132=) c.177C>T (p.Val59=) c.1201C>T c.365C>T (n.365C>T) c.870C>T (p.Val290=) c.1248C>T (p.Val416=) | |
| 8 | g.102208157G>C | CA462123671 | RRM2B | c.1032C>G (p.Val344=) n.419C>G c.876C>G (p.Val292=) c.396C>G (p.Val132=) c.177C>G (p.Val59=) c.1201C>G c.365C>G (n.365C>G) c.870C>G (p.Val290=) c.1248C>G (p.Val416=) | |
| 8 | g.102208157G>T | CA462123672 | RRM2B | c.1032C>A (p.Val344=) n.419C>A c.876C>A (p.Val292=) c.396C>A (p.Val132=) c.177C>A (p.Val59=) c.1201C>A c.365C>A (n.365C>A) c.870C>A (p.Val290=) c.1248C>A (p.Val416=) | |
| 8 | g.102208158A= | CA1806674664 | RRM2B | c.1031T= (p.Val344=) n.418T= c.875T= (p.Val292=) c.395T= (p.Val132=) c.176T= (p.Val59=) c.1200T= c.364T= (n.364T=) c.869T= (p.Val290=) c.1247T= (p.Val416=) | |
| 8 | g.102208158A>C | CA371585261 | RRM2B | c.1031T>G (p.Val344Gly) n.418T>G c.875T>G (p.Val292Gly) c.395T>G (p.Val132Gly) c.176T>G (p.Val59Gly) c.1200T>G c.364T>G (n.364T>G) c.869T>G (p.Val290Gly) c.1247T>G (p.Val416Gly) | |
| 8 | g.102208158A>G | CA371585264 | RRM2B | c.1031T>C (p.Val344Ala) n.418T>C c.875T>C (p.Val292Ala) c.395T>C (p.Val132Ala) c.176T>C (p.Val59Ala) c.1200T>C c.364T>C (n.364T>C) c.869T>C (p.Val290Ala) c.1247T>C (p.Val416Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208158A>T | CA371585267 | RRM2B | c.1031T>A (p.Val344Asp) n.418T>A c.875T>A (p.Val292Asp) c.395T>A (p.Val132Asp) c.176T>A (p.Val59Asp) c.1200T>A c.364T>A (n.364T>A) c.869T>A (p.Val290Asp) c.1247T>A (p.Val416Asp) | |
| 8 | g.102208159C>A | CA371585268 | RRM2B | c.1030G>T (p.Val344Phe) n.417G>T c.874G>T (p.Val292Phe) c.394G>T (p.Val132Phe) c.175G>T (p.Val59Phe) c.1199G>T c.363G>T (n.363G>T) c.868G>T (p.Val290Phe) c.1246G>T (p.Val416Phe) | |
| 8 | g.102208159C= | CA1806674665 | RRM2B | c.1030G= (p.Val344=) n.417G= c.874G= (p.Val292=) c.394G= (p.Val132=) c.175G= (p.Val59=) c.1199G= c.363G= (n.363G=) c.868G= (p.Val290=) c.1246G= (p.Val416=) | |
| 8 | g.102208159C>G | CA371585270 | RRM2B | c.1030G>C (p.Val344Leu) n.417G>C c.874G>C (p.Val292Leu) c.394G>C (p.Val132Leu) c.175G>C (p.Val59Leu) c.1199G>C c.363G>C (n.363G>C) c.868G>C (p.Val290Leu) c.1246G>C (p.Val416Leu) | |
| 8 | g.102208159C>T | CA4830957 | RRM2B | c.1030G>A (p.Val344Ile) n.417G>A c.874G>A (p.Val292Ile) c.394G>A (p.Val132Ile) c.175G>A (p.Val59Ile) c.1199G>A c.363G>A (n.363G>A) c.868G>A (p.Val290Ile) c.1246G>A (p.Val416Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.102208160G>A | CA4830958 | RRM2B | c.1029C>T (p.Asn343=) n.416C>T c.873C>T (p.Asn291=) c.393C>T (p.Asn131=) c.174C>T (p.Asn58=) c.1198C>T c.362C>T (n.362C>T) c.867C>T (p.Asn289=) c.1245C>T (p.Asn415=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102208160G>C | CA371585273 | RRM2B | c.1029C>G (p.Asn343Lys) n.416C>G c.873C>G (p.Asn291Lys) c.393C>G (p.Asn131Lys) c.174C>G (p.Asn58Lys) c.1198C>G c.362C>G (n.362C>G) c.867C>G (p.Asn289Lys) c.1245C>G (p.Asn415Lys) | |
| 8 | g.102208160G= | CA1806674666 | RRM2B | c.1029C= (p.Asn343=) n.416C= c.873C= (p.Asn291=) c.393C= (p.Asn131=) c.174C= (p.Asn58=) c.1198C= c.362C= (n.362C=) c.867C= (p.Asn289=) c.1245C= (p.Asn415=) | |
| 8 | g.102208160G>T | CA371585274 | RRM2B | c.1029C>A (p.Asn343Lys) n.416C>A c.873C>A (p.Asn291Lys) c.393C>A (p.Asn131Lys) c.174C>A (p.Asn58Lys) c.1198C>A c.362C>A (n.362C>A) c.867C>A (p.Asn289Lys) c.1245C>A (p.Asn415Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.102208161T>A | CA371585277 | RRM2B | c.1028A>T (p.Asn343Ile) n.415A>T c.872A>T (p.Asn291Ile) c.392A>T (p.Asn131Ile) c.173A>T (p.Asn58Ile) c.1197A>T c.361A>T (n.361A>T) c.866A>T (p.Asn289Ile) c.1244A>T (p.Asn415Ile) | ClinVar gnomAD v4 |
| 8 | g.102208161T>C | CA371585280 | RRM2B | c.1028A>G (p.Asn343Ser) n.415A>G c.872A>G (p.Asn291Ser) c.392A>G (p.Asn131Ser) c.173A>G (p.Asn58Ser) c.1197A>G c.361A>G (n.361A>G) c.866A>G (p.Asn289Ser) c.1244A>G (p.Asn415Ser) | |
| 8 | g.102208161T>G | CA371585282 | RRM2B | c.1028A>C (p.Asn343Thr) n.415A>C c.872A>C (p.Asn291Thr) c.392A>C (p.Asn131Thr) c.173A>C (p.Asn58Thr) c.1197A>C c.361A>C (n.361A>C) c.866A>C (p.Asn289Thr) c.1244A>C (p.Asn415Thr) | |
| 8 | g.102208162T>A | CA371585291 | RRM2B | c.1027A>T (p.Asn343Tyr) n.414A>T c.871A>T (p.Asn291Tyr) c.391A>T (p.Asn131Tyr) c.172A>T (p.Asn58Tyr) c.1196A>T c.360A>T (n.360A>T) c.865A>T (p.Asn289Tyr) c.1243A>T (p.Asn415Tyr) | |
| 8 | g.102208162T>C | CA371585294 | RRM2B | c.1027A>G (p.Asn343Asp) n.414A>G c.871A>G (p.Asn291Asp) c.391A>G (p.Asn131Asp) c.172A>G (p.Asn58Asp) c.1196A>G c.360A>G (n.360A>G) c.865A>G (p.Asn289Asp) c.1243A>G (p.Asn415Asp) | |
| 8 | g.102208162T>G | CA371585286 | RRM2B | c.1027A>C (p.Asn343His) n.414A>C c.871A>C (p.Asn291His) c.391A>C (p.Asn131His) c.172A>C (p.Asn58His) c.1196A>C c.360A>C (n.360A>C) c.865A>C (p.Asn289His) c.1243A>C (p.Asn415His) | |
| 8 | g.102208163A>C | CA371585297 | RRM2B | c.1026T>G (p.Asp342Glu) n.413T>G c.870T>G (p.Asp290Glu) c.390T>G (p.Asp130Glu) c.171T>G (p.Asp57Glu) c.1195T>G c.359T>G (n.359T>G) c.864T>G (p.Asp288Glu) c.1242T>G (p.Asp414Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.102208163A>G | CA462123673 | RRM2B | c.1026T>C (p.Asp342=) n.413T>C c.870T>C (p.Asp290=) c.390T>C (p.Asp130=) c.171T>C (p.Asp57=) c.1195T>C c.359T>C (n.359T>C) c.864T>C (p.Asp288=) c.1242T>C (p.Asp414=) | |
| 8 | g.102208163A>T | CA371585296 | RRM2B | c.1026T>A (p.Asp342Glu) n.413T>A c.870T>A (p.Asp290Glu) c.390T>A (p.Asp130Glu) c.171T>A (p.Asp57Glu) c.1195T>A c.359T>A (n.359T>A) c.864T>A (p.Asp288Glu) c.1242T>A (p.Asp414Glu) | |
| 8 | g.102208164T>A | CA371585300 | RRM2B | c.1025A>T (p.Asp342Val) n.412A>T c.869A>T (p.Asp290Val) c.389A>T (p.Asp130Val) c.170A>T (p.Asp57Val) c.1194A>T c.358A>T (n.358A>T) c.863A>T (p.Asp288Val) c.1241A>T (p.Asp414Val) | |
| 8 | g.102208164T>C | CA371585306 | RRM2B | c.1025A>G (p.Asp342Gly) n.412A>G c.869A>G (p.Asp290Gly) c.389A>G (p.Asp130Gly) c.170A>G (p.Asp57Gly) c.1194A>G c.358A>G (n.358A>G) c.863A>G (p.Asp288Gly) c.1241A>G (p.Asp414Gly) | |
| 8 | g.102208164T>G | CA371585309 | RRM2B | c.1025A>C (p.Asp342Ala) n.412A>C c.869A>C (p.Asp290Ala) c.389A>C (p.Asp130Ala) c.170A>C (p.Asp57Ala) c.1194A>C c.358A>C (n.358A>C) c.863A>C (p.Asp288Ala) c.1241A>C (p.Asp414Ala) | |
| 8 | g.102208165C>A | CA371585320 | RRM2B | c.1024G>T (p.Asp342Tyr) n.411G>T c.868G>T (p.Asp290Tyr) c.388G>T (p.Asp130Tyr) c.169G>T (p.Asp57Tyr) c.1193G>T c.357G>T (n.357G>T) c.862G>T (p.Asp288Tyr) c.1240G>T (p.Asp414Tyr) | |
| 8 | g.102208165C>G | CA371585332 | RRM2B | c.1024G>C (p.Asp342His) n.411G>C c.868G>C (p.Asp290His) c.388G>C (p.Asp130His) c.169G>C (p.Asp57His) c.1193G>C c.357G>C (n.357G>C) c.862G>C (p.Asp288His) c.1240G>C (p.Asp414His) | |
| 8 | g.102208165C>T | CA371585334 | RRM2B | c.1024G>A (p.Asp342Asn) n.411G>A c.868G>A (p.Asp290Asn) c.388G>A (p.Asp130Asn) c.169G>A (p.Asp57Asn) c.1193G>A c.357G>A (n.357G>A) c.862G>A (p.Asp288Asn) c.1240G>A (p.Asp414Asn) | |
| 8 | g.102208166T>A | CA462123676 | RRM2B | c.1023A>T (p.Thr341=) n.410A>T c.867A>T (p.Thr289=) c.387A>T (p.Thr129=) c.168A>T (p.Thr56=) c.1192A>T c.356A>T (n.356A>T) c.861A>T (p.Thr287=) c.1239A>T (p.Thr413=) | |
| 8 | g.102208166T>C | CA462123674 | RRM2B | c.1023A>G (p.Thr341=) n.410A>G c.867A>G (p.Thr289=) c.387A>G (p.Thr129=) c.168A>G (p.Thr56=) c.1192A>G c.356A>G (n.356A>G) c.861A>G (p.Thr287=) c.1239A>G (p.Thr413=) | |
| 8 | g.102208166T>G | CA462123675 | RRM2B | c.1023A>C (p.Thr341=) n.410A>C c.867A>C (p.Thr289=) c.387A>C (p.Thr129=) c.168A>C (p.Thr56=) c.1192A>C c.356A>C (n.356A>C) c.861A>C (p.Thr287=) c.1239A>C (p.Thr413=) | |
| 8 | g.102208167G>A | CA371585339 | RRM2B | c.1022C>T (p.Thr341Ile) n.409C>T c.866C>T (p.Thr289Ile) c.386C>T (p.Thr129Ile) c.167C>T (p.Thr56Ile) c.1191C>T c.355C>T (n.355C>T) c.860C>T (p.Thr287Ile) c.1238C>T (p.Thr413Ile) | dbSNP |
| 8 | g.102208167G>C | CA371585344 | RRM2B | c.1022C>G (p.Thr341Arg) n.409C>G c.866C>G (p.Thr289Arg) c.386C>G (p.Thr129Arg) c.167C>G (p.Thr56Arg) c.1191C>G c.355C>G (n.355C>G) c.860C>G (p.Thr287Arg) c.1238C>G (p.Thr413Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208167G= | CA1806674667 | RRM2B | c.1022C= (p.Thr341=) n.409C= c.866C= (p.Thr289=) c.386C= (p.Thr129=) c.167C= (p.Thr56=) c.1191C= c.355C= (n.355C=) c.860C= (p.Thr287=) c.1238C= (p.Thr413=) | |
| 8 | g.102208167G>T | CA371585346 | RRM2B | c.1022C>A (p.Thr341Lys) n.409C>A c.866C>A (p.Thr289Lys) c.386C>A (p.Thr129Lys) c.167C>A (p.Thr56Lys) c.1191C>A c.355C>A (n.355C>A) c.860C>A (p.Thr287Lys) c.1238C>A (p.Thr413Lys) | |
| 8 | g.102208168T>A | CA371585350 | RRM2B | c.1021A>T (p.Thr341Ser) n.408A>T c.865A>T (p.Thr289Ser) c.385A>T (p.Thr129Ser) c.166A>T (p.Thr56Ser) c.1190A>T c.354A>T (n.354A>T) c.859A>T (p.Thr287Ser) c.1237A>T (p.Thr413Ser) | |
| 8 | g.102208168T>C | CA371585353 | RRM2B | c.1021A>G (p.Thr341Ala) n.408A>G c.865A>G (p.Thr289Ala) c.385A>G (p.Thr129Ala) c.166A>G (p.Thr56Ala) c.1190A>G c.354A>G (n.354A>G) c.859A>G (p.Thr287Ala) c.1237A>G (p.Thr413Ala) | |
| 8 | g.102208168T>G | CA371585354 | RRM2B | c.1021A>C (p.Thr341Pro) n.408A>C c.865A>C (p.Thr289Pro) c.385A>C (p.Thr129Pro) c.166A>C (p.Thr56Pro) c.1190A>C c.354A>C (n.354A>C) c.859A>C (p.Thr287Pro) c.1237A>C (p.Thr413Pro) | |
| 8 | g.102208169G>A | CA462123677 | RRM2B | c.1020C>T (p.Thr340=) n.407C>T c.864C>T (p.Thr288=) c.384C>T (p.Thr128=) c.165C>T (p.Thr55=) c.1189C>T c.353C>T (n.353C>T) c.858C>T (p.Thr286=) c.1236C>T (p.Thr412=) | |
| 8 | g.102208169G>C | CA462123679 | RRM2B | c.1020C>G (p.Thr340=) n.407C>G c.864C>G (p.Thr288=) c.384C>G (p.Thr128=) c.165C>G (p.Thr55=) c.1189C>G c.353C>G (n.353C>G) c.858C>G (p.Thr286=) c.1236C>G (p.Thr412=) | |
| 8 | g.102208169G>T | CA462123678 | RRM2B | c.1020C>A (p.Thr340=) n.407C>A c.864C>A (p.Thr288=) c.384C>A (p.Thr128=) c.165C>A (p.Thr55=) c.1189C>A c.353C>A (n.353C>A) c.858C>A (p.Thr286=) c.1236C>A (p.Thr412=) | |
| 8 | g.102208170G>A | CA371585366 | RRM2B | c.1019C>T (p.Thr340Ile) n.406C>T c.863C>T (p.Thr288Ile) c.383C>T (p.Thr128Ile) c.164C>T (p.Thr55Ile) c.1188C>T c.352C>T (n.352C>T) c.857C>T (p.Thr286Ile) c.1235C>T (p.Thr412Ile) | |
| 8 | g.102208170G>C | CA371585361 | RRM2B | c.1019C>G (p.Thr340Ser) n.406C>G c.863C>G (p.Thr288Ser) c.383C>G (p.Thr128Ser) c.164C>G (p.Thr55Ser) c.1188C>G c.352C>G (n.352C>G) c.857C>G (p.Thr286Ser) c.1235C>G (p.Thr412Ser) | |
| 8 | g.102208170G>T | CA371585364 | RRM2B | c.1019C>A (p.Thr340Asn) n.406C>A c.863C>A (p.Thr288Asn) c.383C>A (p.Thr128Asn) c.164C>A (p.Thr55Asn) c.1188C>A c.352C>A (n.352C>A) c.857C>A (p.Thr286Asn) c.1235C>A (p.Thr412Asn) | |
| 8 | g.102208171T>A | CA371585368 | RRM2B | c.1018A>T (p.Thr340Ser) n.405A>T c.862A>T (p.Thr288Ser) c.382A>T (p.Thr128Ser) c.163A>T (p.Thr55Ser) c.1187A>T c.351A>T (n.351A>T) c.856A>T (p.Thr286Ser) c.1234A>T (p.Thr412Ser) | |
| 8 | g.102208171T>C | CA371585375 | RRM2B | c.1018A>G (p.Thr340Ala) n.405A>G c.862A>G (p.Thr288Ala) c.382A>G (p.Thr128Ala) c.163A>G (p.Thr55Ala) c.1187A>G c.351A>G (n.351A>G) c.856A>G (p.Thr286Ala) c.1234A>G (p.Thr412Ala) | dbSNP gnomAD v4 |
| 8 | g.102208171T>G | CA371585379 | RRM2B | c.1018A>C (p.Thr340Pro) n.405A>C c.862A>C (p.Thr288Pro) c.382A>C (p.Thr128Pro) c.163A>C (p.Thr55Pro) c.1187A>C c.351A>C (n.351A>C) c.856A>C (p.Thr286Pro) c.1234A>C (p.Thr412Pro) | |
| 8 | g.102208171T= | CA1806674668 | RRM2B | c.1018A= (p.Thr340=) n.405A= c.862A= (p.Thr288=) c.382A= (p.Thr128=) c.163A= (p.Thr55=) c.1187A= c.351A= (n.351A=) c.856A= (p.Thr286=) c.1234A= (p.Thr412=) | |
| 8 | g.102208172T>A | CA371585382 | RRM2B | c.1017A>T (p.Glu339Asp) n.404A>T c.861A>T (p.Glu287Asp) c.381A>T (p.Glu127Asp) c.162A>T (p.Glu54Asp) c.1186A>T c.350A>T (n.350A>T) c.855A>T (p.Glu285Asp) c.1233A>T (p.Glu411Asp) | |
| 8 | g.102208172T>C | CA462123683 | RRM2B | c.1017A>G (p.Glu339=) n.404A>G c.861A>G (p.Glu287=) c.381A>G (p.Glu127=) c.162A>G (p.Glu54=) c.1186A>G c.350A>G (n.350A>G) c.855A>G (p.Glu285=) c.1233A>G (p.Glu411=) | |
| 8 | g.102208172T>G | CA371585384 | RRM2B | c.1017A>C (p.Glu339Asp) n.404A>C c.861A>C (p.Glu287Asp) c.381A>C (p.Glu127Asp) c.162A>C (p.Glu54Asp) c.1186A>C c.350A>C (n.350A>C) c.855A>C (p.Glu285Asp) c.1233A>C (p.Glu411Asp) | gnomAD v4 |
| 8 | g.102208173T>A | CA371585386 | RRM2B | c.1016A>T (p.Glu339Val) n.403A>T c.860A>T (p.Glu287Val) c.380A>T (p.Glu127Val) c.161A>T (p.Glu54Val) c.1185A>T c.349A>T (n.349A>T) c.854A>T (p.Glu285Val) c.1232A>T (p.Glu411Val) | |
| 8 | g.102208173T>C | CA371585393 | RRM2B | c.1016A>G (p.Glu339Gly) n.403A>G c.860A>G (p.Glu287Gly) c.380A>G (p.Glu127Gly) c.161A>G (p.Glu54Gly) c.1185A>G c.349A>G (n.349A>G) c.854A>G (p.Glu285Gly) c.1232A>G (p.Glu411Gly) | |
| 8 | g.102208173T>G | CA371585396 | RRM2B | c.1016A>C (p.Glu339Ala) n.403A>C c.860A>C (p.Glu287Ala) c.380A>C (p.Glu127Ala) c.161A>C (p.Glu54Ala) c.1185A>C c.349A>C (n.349A>C) c.854A>C (p.Glu285Ala) c.1232A>C (p.Glu411Ala) | |
| 8 | g.102208174C>A | CA371585399 | RRM2B | c.1015G>T (p.Glu339Ter) n.402G>T c.859G>T (p.Glu287Ter) c.379G>T (p.Glu127Ter) c.160G>T (p.Glu54Ter) c.1184G>T c.348G>T (n.348G>T) c.853G>T (p.Glu285Ter) c.1231G>T (p.Glu411Ter) | |
| 8 | g.102208174C>G | CA371585411 | RRM2B | c.1015G>C (p.Glu339Gln) n.402G>C c.859G>C (p.Glu287Gln) c.379G>C (p.Glu127Gln) c.160G>C (p.Glu54Gln) c.1184G>C c.348G>C (n.348G>C) c.853G>C (p.Glu285Gln) c.1231G>C (p.Glu411Gln) | |
| 8 | g.102208174C>T | CA371585414 | RRM2B | c.1015G>A (p.Glu339Lys) n.402G>A c.859G>A (p.Glu287Lys) c.379G>A (p.Glu127Lys) c.160G>A (p.Glu54Lys) c.1184G>A c.348G>A (n.348G>A) c.853G>A (p.Glu285Lys) c.1231G>A (p.Glu411Lys) | gnomAD v4 |
| 8 | g.102208175T>A | CA462123684 | RRM2B | c.1014A>T (p.Ala338=) n.401A>T c.858A>T (p.Ala286=) c.378A>T (p.Ala126=) c.159A>T (p.Ala53=) c.1183A>T c.347A>T (n.347A>T) c.852A>T (p.Ala284=) c.1230A>T (p.Ala410=) | |
| 8 | g.102208175T>C | CA462123685 | RRM2B | c.1014A>G (p.Ala338=) n.401A>G c.858A>G (p.Ala286=) c.378A>G (p.Ala126=) c.159A>G (p.Ala53=) c.1183A>G c.347A>G (n.347A>G) c.852A>G (p.Ala284=) c.1230A>G (p.Ala410=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208175T>G | CA462123686 | RRM2B | c.1014A>C (p.Ala338=) n.401A>C c.858A>C (p.Ala286=) c.378A>C (p.Ala126=) c.159A>C (p.Ala53=) c.1183A>C c.347A>C (n.347A>C) c.852A>C (p.Ala284=) c.1230A>C (p.Ala410=) | |
| 8 | g.102208175T= | CA1806674669 | RRM2B | c.1014A= (p.Ala338=) n.401A= c.858A= (p.Ala286=) c.378A= (p.Ala126=) c.159A= (p.Ala53=) c.1183A= c.347A= (n.347A=) c.852A= (p.Ala284=) c.1230A= (p.Ala410=) | |
| 8 | g.102208176G>A | CA371585421 | RRM2B | c.1013C>T (p.Ala338Val) n.400C>T c.857C>T (p.Ala286Val) c.377C>T (p.Ala126Val) c.158C>T (p.Ala53Val) c.1182C>T c.346C>T (n.346C>T) c.851C>T (p.Ala284Val) c.1229C>T (p.Ala410Val) | gnomAD v4 |
| 8 | g.102208176G>C | CA371585416 | RRM2B | c.1013C>G (p.Ala338Gly) n.400C>G c.857C>G (p.Ala286Gly) c.377C>G (p.Ala126Gly) c.158C>G (p.Ala53Gly) c.1182C>G c.346C>G (n.346C>G) c.851C>G (p.Ala284Gly) c.1229C>G (p.Ala410Gly) | |
| 8 | g.102208176G>T | CA371585415 | RRM2B | c.1013C>A (p.Ala338Glu) n.400C>A c.857C>A (p.Ala286Glu) c.377C>A (p.Ala126Glu) c.158C>A (p.Ala53Glu) c.1182C>A c.346C>A (n.346C>A) c.851C>A (p.Ala284Glu) c.1229C>A (p.Ala410Glu) | |
| 8 | g.102208177C>A | CA371585425 | RRM2B | c.1012G>T (p.Ala338Ser) n.399G>T c.856G>T (p.Ala286Ser) c.376G>T (p.Ala126Ser) c.157G>T (p.Ala53Ser) c.1181G>T c.345G>T (n.345G>T) c.850G>T (p.Ala284Ser) c.1228G>T (p.Ala410Ser) | |
| 8 | g.102208177C= | CA1806674670 | RRM2B | c.1012G= (p.Ala338=) n.399G= c.856G= (p.Ala286=) c.376G= (p.Ala126=) c.157G= (p.Ala53=) c.1181G= c.345G= (n.345G=) c.850G= (p.Ala284=) c.1228G= (p.Ala410=) | |
| 8 | g.102208177C>G | CA371585427 | RRM2B | c.1012G>C (p.Ala338Pro) n.399G>C c.856G>C (p.Ala286Pro) c.376G>C (p.Ala126Pro) c.157G>C (p.Ala53Pro) c.1181G>C c.345G>C (n.345G>C) c.850G>C (p.Ala284Pro) c.1228G>C (p.Ala410Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102208177C>T | CA371585429 | RRM2B | c.1012G>A (p.Ala338Thr) n.399G>A c.856G>A (p.Ala286Thr) c.376G>A (p.Ala126Thr) c.157G>A (p.Ala53Thr) c.1181G>A c.345G>A (n.345G>A) c.850G>A (p.Ala284Thr) c.1228G>A (p.Ala410Thr) | |
| 8 | g.102208178del | CA2579221158 | RRM2B | c.1012del (p.Ala338GlnfsTer30) n.399del c.856del (p.Ala286GlnfsTer?) c.376del (p.Ala126GlnfsTer?) c.157del (p.Ala53GlnfsTer?) c.1181del c.345del (n.345del) c.850del (p.Ala284GlnfsTer30) c.1228del (p.Ala410GlnfsTer30) c.856del (p.Ala286GlnfsTer30) | |
| 8 | g.102208178C>A | CA371585434 | RRM2B | c.1011G>T (p.Met337Ile) n.398G>T c.855G>T (p.Met285Ile) c.375G>T (p.Met125Ile) c.156G>T (p.Met52Ile) c.1180G>T c.344G>T (n.344G>T) c.849G>T (p.Met283Ile) c.1227G>T (p.Met409Ile) | |
| 8 | g.102208178C>G | CA371585440 | RRM2B | c.1011G>C (p.Met337Ile) n.398G>C c.855G>C (p.Met285Ile) c.375G>C (p.Met125Ile) c.156G>C (p.Met52Ile) c.1180G>C c.344G>C (n.344G>C) c.849G>C (p.Met283Ile) c.1227G>C (p.Met409Ile) | |
| 8 | g.102208178C>T | CA371585445 | RRM2B | c.1011G>A (p.Met337Ile) n.398G>A c.855G>A (p.Met285Ile) c.375G>A (p.Met125Ile) c.156G>A (p.Met52Ile) c.1180G>A c.344G>A (n.344G>A) c.849G>A (p.Met283Ile) c.1227G>A (p.Met409Ile) | |
| 8 | g.102208179A= | CA1806674671 | RRM2B | c.1010T= (p.Met337=) n.397T= c.854T= (p.Met285=) c.374T= (p.Met125=) c.155T= (p.Met52=) c.1179T= c.343T= (n.343T=) c.848T= (p.Met283=) c.1226T= (p.Met409=) | |
| 8 | g.102208179A>C | CA371585446 | RRM2B | c.1010T>G (p.Met337Arg) n.397T>G c.854T>G (p.Met285Arg) c.374T>G (p.Met125Arg) c.155T>G (p.Met52Arg) c.1179T>G c.343T>G (n.343T>G) c.848T>G (p.Met283Arg) c.1226T>G (p.Met409Arg) | |
| 8 | g.102208179A>G | CA371585447 | RRM2B | c.1010T>C (p.Met337Thr) n.397T>C c.854T>C (p.Met285Thr) c.374T>C (p.Met125Thr) c.155T>C (p.Met52Thr) c.1179T>C c.343T>C (n.343T>C) c.848T>C (p.Met283Thr) c.1226T>C (p.Met409Thr) | gnomAD v4 |
| 8 | g.102208179A>T | CA371585448 | RRM2B | c.1010T>A (p.Met337Lys) n.397T>A c.854T>A (p.Met285Lys) c.374T>A (p.Met125Lys) c.155T>A (p.Met52Lys) c.1179T>A c.343T>A (n.343T>A) c.848T>A (p.Met283Lys) c.1226T>A (p.Met409Lys) | ClinVar dbSNP |
| 8 | g.102208180T>A | CA371585451 | RRM2B | c.1009A>T (p.Met337Leu) n.396A>T c.853A>T (p.Met285Leu) c.373A>T (p.Met125Leu) c.154A>T (p.Met52Leu) c.1178A>T c.342A>T (n.342A>T) c.847A>T (p.Met283Leu) c.1225A>T (p.Met409Leu) | |
| 8 | g.102208180T>C | CA371585452 | RRM2B | c.1009A>G (p.Met337Val) n.396A>G c.853A>G (p.Met285Val) c.373A>G (p.Met125Val) c.154A>G (p.Met52Val) c.1178A>G c.342A>G (n.342A>G) c.847A>G (p.Met283Val) c.1225A>G (p.Met409Val) | |
| 8 | g.102208180T>G | CA371585453 | RRM2B | c.1009A>C (p.Met337Leu) n.396A>C c.853A>C (p.Met285Leu) c.373A>C (p.Met125Leu) c.154A>C (p.Met52Leu) c.1178A>C c.342A>C (n.342A>C) c.847A>C (p.Met283Leu) c.1225A>C (p.Met409Leu) | |
| 8 | g.102208181A>C | CA462123687 | RRM2B | c.1008T>G (p.Val336=) n.395T>G c.852T>G (p.Val284=) c.372T>G (p.Val124=) c.153T>G (p.Val51=) c.1177T>G c.341T>G (n.341T>G) c.846T>G (p.Val282=) c.1224T>G (p.Val408=) | |
| 8 | g.102208181A>G | CA462123688 | RRM2B | c.1008T>C (p.Val336=) n.395T>C c.852T>C (p.Val284=) c.372T>C (p.Val124=) c.153T>C (p.Val51=) c.1177T>C c.341T>C (n.341T>C) c.846T>C (p.Val282=) c.1224T>C (p.Val408=) | |
| 8 | g.102208181A>T | CA462123689 | RRM2B | c.1008T>A (p.Val336=) n.395T>A c.852T>A (p.Val284=) c.372T>A (p.Val124=) c.153T>A (p.Val51=) c.1177T>A c.341T>A (n.341T>A) c.846T>A (p.Val282=) c.1224T>A (p.Val408=) | |
| 8 | g.102208182A>C | CA371585458 | RRM2B | c.1007T>G (p.Val336Gly) n.394T>G c.851T>G (p.Val284Gly) c.371T>G (p.Val124Gly) c.152T>G (p.Val51Gly) c.1176T>G c.340T>G (n.340T>G) c.845T>G (p.Val282Gly) c.1223T>G (p.Val408Gly) | |
| 8 | g.102208182A>G | CA371585464 | RRM2B | c.1007T>C (p.Val336Ala) n.394T>C c.851T>C (p.Val284Ala) c.371T>C (p.Val124Ala) c.152T>C (p.Val51Ala) c.1176T>C c.340T>C (n.340T>C) c.845T>C (p.Val282Ala) c.1223T>C (p.Val408Ala) | |
| 8 | g.102208182A>T | CA371585454 | RRM2B | c.1007T>A (p.Val336Asp) n.394T>A c.851T>A (p.Val284Asp) c.371T>A (p.Val124Asp) c.152T>A (p.Val51Asp) c.1176T>A c.340T>A (n.340T>A) c.845T>A (p.Val282Asp) c.1223T>A (p.Val408Asp) | |
| 8 | g.102208183C>A | CA371585467 | RRM2B | c.1006G>T (p.Val336Phe) n.393G>T c.850G>T (p.Val284Phe) c.370G>T (p.Val124Phe) c.151G>T (p.Val51Phe) c.1175G>T c.339G>T (n.339G>T) c.844G>T (p.Val282Phe) c.1222G>T (p.Val408Phe) | |
| 8 | g.102208183C= | CA1806674672 | RRM2B | c.1006G= (p.Val336=) n.393G= c.850G= (p.Val284=) c.370G= (p.Val124=) c.151G= (p.Val51=) c.1175G= c.339G= (n.339G=) c.844G= (p.Val282=) c.1222G= (p.Val408=) | |
| 8 | g.102208183C>G | CA371585471 | RRM2B | c.1006G>C (p.Val336Leu) n.393G>C c.850G>C (p.Val284Leu) c.370G>C (p.Val124Leu) c.151G>C (p.Val51Leu) c.1175G>C c.339G>C (n.339G>C) c.844G>C (p.Val282Leu) c.1222G>C (p.Val408Leu) | |
| 8 | g.102208183C>T | CA371585473 | RRM2B | c.1006G>A (p.Val336Ile) n.393G>A c.850G>A (p.Val284Ile) c.370G>A (p.Val124Ile) c.151G>A (p.Val51Ile) c.1175G>A c.339G>A (n.339G>A) c.844G>A (p.Val282Ile) c.1222G>A (p.Val408Ile) | dbSNP |
| 8 | g.102208184T>A | CA462123693 | RRM2B | c.1005A>T (p.Ala335=) n.392A>T c.849A>T (p.Ala283=) c.369A>T (p.Ala123=) c.150A>T (p.Ala50=) c.1174A>T c.338A>T (n.338A>T) c.843A>T (p.Ala281=) c.1221A>T (p.Ala407=) | |
| 8 | g.102208184T>C | CA462123692 | RRM2B | c.1005A>G (p.Ala335=) n.392A>G c.849A>G (p.Ala283=) c.369A>G (p.Ala123=) c.150A>G (p.Ala50=) c.1174A>G c.338A>G (n.338A>G) c.843A>G (p.Ala281=) c.1221A>G (p.Ala407=) | gnomAD v4 |
| 8 | g.102208184T>G | CA462123691 | RRM2B | c.1005A>C (p.Ala335=) n.392A>C c.849A>C (p.Ala283=) c.369A>C (p.Ala123=) c.150A>C (p.Ala50=) c.1174A>C c.338A>C (n.338A>C) c.843A>C (p.Ala281=) c.1221A>C (p.Ala407=) | |
| 8 | g.102208185G>A | CA371585479 | RRM2B | c.1004C>T (p.Ala335Val) n.391C>T c.848C>T (p.Ala283Val) c.368C>T (p.Ala123Val) c.149C>T (p.Ala50Val) c.1173C>T c.337C>T (n.337C>T) c.842C>T (p.Ala281Val) c.1220C>T (p.Ala407Val) | |
| 8 | g.102208185G>C | CA371585482 | RRM2B | c.1004C>G (p.Ala335Gly) n.391C>G c.848C>G (p.Ala283Gly) c.368C>G (p.Ala123Gly) c.149C>G (p.Ala50Gly) c.1173C>G c.337C>G (n.337C>G) c.842C>G (p.Ala281Gly) c.1220C>G (p.Ala407Gly) | |
| 8 | g.102208185G>T | CA371585489 | RRM2B | c.1004C>A (p.Ala335Glu) n.391C>A c.848C>A (p.Ala283Glu) c.368C>A (p.Ala123Glu) c.149C>A (p.Ala50Glu) c.1173C>A c.337C>A (n.337C>A) c.842C>A (p.Ala281Glu) c.1220C>A (p.Ala407Glu) | |
| 8 | g.102208186C>A | CA371585497 | RRM2B | c.1003G>T (p.Ala335Ser) n.390G>T c.847G>T (p.Ala283Ser) c.367G>T (p.Ala123Ser) c.148G>T (p.Ala50Ser) c.1172G>T c.336G>T (n.336G>T) c.841G>T (p.Ala281Ser) c.1219G>T (p.Ala407Ser) | dbSNP gnomAD v3 |
| 8 | g.102208186C>G | CA371585507 | RRM2B | c.1003G>C (p.Ala335Pro) n.390G>C c.847G>C (p.Ala283Pro) c.367G>C (p.Ala123Pro) c.148G>C (p.Ala50Pro) c.1172G>C c.336G>C (n.336G>C) c.841G>C (p.Ala281Pro) c.1219G>C (p.Ala407Pro) | |
| 8 | g.102208186C>T | CA371585504 | RRM2B | c.1003G>A (p.Ala335Thr) n.390G>A c.847G>A (p.Ala283Thr) c.367G>A (p.Ala123Thr) c.148G>A (p.Ala50Thr) c.1172G>A c.336G>A (n.336G>A) c.841G>A (p.Ala281Thr) c.1219G>A (p.Ala407Thr) | |
| 8 | g.102208187A>C | CA371585512 | RRM2B | c.1002T>G (p.Phe334Leu) n.389T>G c.846T>G (p.Phe282Leu) c.366T>G (p.Phe122Leu) c.147T>G (p.Phe49Leu) c.1171T>G c.335T>G (n.335T>G) c.840T>G (p.Phe280Leu) c.1218T>G (p.Phe406Leu) | |
| 8 | g.102208187A>G | CA462123714 | RRM2B | c.1002T>C (p.Phe334=) n.389T>C c.846T>C (p.Phe282=) c.366T>C (p.Phe122=) c.147T>C (p.Phe49=) c.1171T>C c.335T>C (n.335T>C) c.840T>C (p.Phe280=) c.1218T>C (p.Phe406=) | |
| 8 | g.102208187A>T | CA371585519 | RRM2B | c.1002T>A (p.Phe334Leu) n.389T>A c.846T>A (p.Phe282Leu) c.366T>A (p.Phe122Leu) c.147T>A (p.Phe49Leu) c.1171T>A c.335T>A (n.335T>A) c.840T>A (p.Phe280Leu) c.1218T>A (p.Phe406Leu) | |
| 8 | g.102208188A>C | CA371585523 | RRM2B | c.1001T>G (p.Phe334Cys) n.388T>G c.845T>G (p.Phe282Cys) c.365T>G (p.Phe122Cys) c.146T>G (p.Phe49Cys) c.1170T>G c.334T>G (n.334T>G) c.839T>G (p.Phe280Cys) c.1217T>G (p.Phe406Cys) | gnomAD v4 |
| 8 | g.102208188A>G | CA371585525 | RRM2B | c.1001T>C (p.Phe334Ser) n.388T>C c.845T>C (p.Phe282Ser) c.365T>C (p.Phe122Ser) c.146T>C (p.Phe49Ser) c.1170T>C c.334T>C (n.334T>C) c.839T>C (p.Phe280Ser) c.1217T>C (p.Phe406Ser) | |
| 8 | g.102208188A>T | CA371585534 | RRM2B | c.1001T>A (p.Phe334Tyr) n.388T>A c.845T>A (p.Phe282Tyr) c.365T>A (p.Phe122Tyr) c.146T>A (p.Phe49Tyr) c.1170T>A c.334T>A (n.334T>A) c.839T>A (p.Phe280Tyr) c.1217T>A (p.Phe406Tyr) | |
| 8 | g.102208189A>C | CA371585555 | RRM2B | c.1000T>G (p.Phe334Val) n.387T>G c.844T>G (p.Phe282Val) c.364T>G (p.Phe122Val) c.145T>G (p.Phe49Val) c.1169T>G c.333T>G (n.333T>G) c.838T>G (p.Phe280Val) c.1216T>G (p.Phe406Val) | |
| 8 | g.102208189A>G | CA371585550 | RRM2B | c.1000T>C (p.Phe334Leu) n.387T>C c.844T>C (p.Phe282Leu) c.364T>C (p.Phe122Leu) c.145T>C (p.Phe49Leu) c.1169T>C c.333T>C (n.333T>C) c.838T>C (p.Phe280Leu) c.1216T>C (p.Phe406Leu) | |
| 8 | g.102208189A>T | CA371585546 | RRM2B | c.1000T>A (p.Phe334Ile) n.387T>A c.844T>A (p.Phe282Ile) c.364T>A (p.Phe122Ile) c.145T>A (p.Phe49Ile) c.1169T>A c.333T>A (n.333T>A) c.838T>A (p.Phe280Ile) c.1216T>A (p.Phe406Ile) | |
| 8 | g.102208190A= | CA1806674673 | RRM2B | c.999T= (p.Arg333=) n.386T= c.843T= (p.Arg281=) c.363T= (p.Arg121=) c.144T= (p.Arg48=) c.1168T= c.332T= (n.332T=) c.837T= (p.Arg279=) c.1215T= (p.Arg405=) | |
| 8 | g.102208190A>C | CA462123718 | RRM2B | c.999T>G (p.Arg333=) n.386T>G c.843T>G (p.Arg281=) c.363T>G (p.Arg121=) c.144T>G (p.Arg48=) c.1168T>G c.332T>G (n.332T>G) c.837T>G (p.Arg279=) c.1215T>G (p.Arg405=) | |
| 8 | g.102208190A>G | CA462123719 | RRM2B | c.999T>C (p.Arg333=) n.386T>C c.843T>C (p.Arg281=) c.363T>C (p.Arg121=) c.144T>C (p.Arg48=) c.1168T>C c.332T>C (n.332T>C) c.837T>C (p.Arg279=) c.1215T>C (p.Arg405=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208190A>T | CA462123722 | RRM2B | c.999T>A (p.Arg333=) n.386T>A c.843T>A (p.Arg281=) c.363T>A (p.Arg121=) c.144T>A (p.Arg48=) c.1168T>A c.332T>A (n.332T>A) c.837T>A (p.Arg279=) c.1215T>A (p.Arg405=) | |
| 8 | g.102208191C>A | CA371585557 | RRM2B | c.998G>T (p.Arg333Leu) n.385G>T c.842G>T (p.Arg281Leu) c.362G>T (p.Arg121Leu) c.143G>T (p.Arg48Leu) c.1167G>T c.331G>T (n.331G>T) c.836G>T (p.Arg279Leu) c.1214G>T (p.Arg405Leu) | gnomAD v4 |
| 8 | g.102208191C= | CA1806674674 | RRM2B | c.998G= (p.Arg333=) n.385G= c.842G= (p.Arg281=) c.362G= (p.Arg121=) c.143G= (p.Arg48=) c.1167G= c.331G= (n.331G=) c.836G= (p.Arg279=) c.1214G= (p.Arg405=) | |
| 8 | g.102208191C>G | CA371585556 | RRM2B | c.998G>C (p.Arg333Pro) n.385G>C c.842G>C (p.Arg281Pro) c.362G>C (p.Arg121Pro) c.143G>C (p.Arg48Pro) c.1167G>C c.331G>C (n.331G>C) c.836G>C (p.Arg279Pro) c.1214G>C (p.Arg405Pro) | |
| 8 | g.102208191C>T | CA371585560 | RRM2B | c.998G>A (p.Arg333His) n.385G>A c.842G>A (p.Arg281His) c.362G>A (p.Arg121His) c.143G>A (p.Arg48His) c.1167G>A c.331G>A (n.331G>A) c.836G>A (p.Arg279His) c.1214G>A (p.Arg405His) | dbSNP gnomAD v4 |
| 8 | g.102208192G>A | CA371585568 | RRM2B | c.997C>T (p.Arg333Cys) n.384C>T c.841C>T (p.Arg281Cys) c.361C>T (p.Arg121Cys) c.142C>T (p.Arg48Cys) c.1166C>T c.330C>T (n.330C>T) c.835C>T (p.Arg279Cys) c.1213C>T (p.Arg405Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.102208192G>C | CA371585586 | RRM2B | c.997C>G (p.Arg333Gly) n.384C>G c.841C>G (p.Arg281Gly) c.361C>G (p.Arg121Gly) c.142C>G (p.Arg48Gly) c.1166C>G c.330C>G (n.330C>G) c.835C>G (p.Arg279Gly) c.1213C>G (p.Arg405Gly) | |
| 8 | g.102208192G= | CA1806674675 | RRM2B | c.997C= (p.Arg333=) n.384C= c.841C= (p.Arg281=) c.361C= (p.Arg121=) c.142C= (p.Arg48=) c.1166C= c.330C= (n.330C=) c.835C= (p.Arg279=) c.1213C= (p.Arg405=) | |
| 8 | g.102208192G>T | CA371585577 | RRM2B | c.997C>A (p.Arg333Ser) n.384C>A c.841C>A (p.Arg281Ser) c.361C>A (p.Arg121Ser) c.142C>A (p.Arg48Ser) c.1166C>A c.330C>A (n.330C>A) c.835C>A (p.Arg279Ser) c.1213C>A (p.Arg405Ser) | |
| 8 | g.102208193C>A | CA371585590 | RRM2B | c.996G>T (p.Gln332His) n.383G>T c.840G>T (p.Gln280His) c.360G>T (p.Gln120His) c.141G>T (p.Gln47His) c.1165G>T c.329G>T (n.329G>T) c.834G>T (p.Gln278His) c.1212G>T (p.Gln404His) | |
| 8 | g.102208193C>G | CA371585597 | RRM2B | c.996G>C (p.Gln332His) n.383G>C c.840G>C (p.Gln280His) c.360G>C (p.Gln120His) c.141G>C (p.Gln47His) c.1165G>C c.329G>C (n.329G>C) c.834G>C (p.Gln278His) c.1212G>C (p.Gln404His) | gnomAD v4 |
| 8 | g.102208193C>T | CA462123729 | RRM2B | c.996G>A (p.Gln332=) n.383G>A c.840G>A (p.Gln280=) c.360G>A (p.Gln120=) c.141G>A (p.Gln47=) c.1165G>A c.329G>A (n.329G>A) c.834G>A (p.Gln278=) c.1212G>A (p.Gln404=) | |
| 8 | g.102208194del | CA2525168221 | RRM2B | c.995del (p.Gln332ArgfsTer?) n.382del c.839del (p.Gln280ArgfsTer?) c.359del (p.Gln120ArgfsTer?) c.140del (p.Gln47ArgfsTer?) c.1164del c.328del (n.328del) c.833del (p.Gln278ArgfsTer?) c.1211del (p.Gln404ArgfsTer?) | |
| 8 | g.102208194T>A | CA371585603 | RRM2B | c.995A>T (p.Gln332Leu) n.382A>T c.839A>T (p.Gln280Leu) c.359A>T (p.Gln120Leu) c.140A>T (p.Gln47Leu) c.1164A>T c.328A>T (n.328A>T) c.833A>T (p.Gln278Leu) c.1211A>T (p.Gln404Leu) | |
| 8 | g.102208194T>C | CA371585605 | RRM2B | c.995A>G (p.Gln332Arg) n.382A>G c.839A>G (p.Gln280Arg) c.359A>G (p.Gln120Arg) c.140A>G (p.Gln47Arg) c.1164A>G c.328A>G (n.328A>G) c.833A>G (p.Gln278Arg) c.1211A>G (p.Gln404Arg) | |
| 8 | g.102208194T>G | CA371585608 | RRM2B | c.995A>C (p.Gln332Pro) n.382A>C c.839A>C (p.Gln280Pro) c.359A>C (p.Gln120Pro) c.140A>C (p.Gln47Pro) c.1164A>C c.328A>C (n.328A>C) c.833A>C (p.Gln278Pro) c.1211A>C (p.Gln404Pro) | |
| 8 | g.102208195G>A | CA371585618 | RRM2B | c.994C>T (p.Gln332Ter) n.381C>T c.838C>T (p.Gln280Ter) c.358C>T (p.Gln120Ter) c.139C>T (p.Gln47Ter) c.1163C>T c.327C>T (n.327C>T) c.832C>T (p.Gln278Ter) c.1210C>T (p.Gln404Ter) | |
| 8 | g.102208195G>C | CA371585619 | RRM2B | c.994C>G (p.Gln332Glu) n.381C>G c.838C>G (p.Gln280Glu) c.358C>G (p.Gln120Glu) c.139C>G (p.Gln47Glu) c.1163C>G c.327C>G (n.327C>G) c.832C>G (p.Gln278Glu) c.1210C>G (p.Gln404Glu) | |
| 8 | g.102208195G>T | CA371585620 | RRM2B | c.994C>A (p.Gln332Lys) n.381C>A c.838C>A (p.Gln280Lys) c.358C>A (p.Gln120Lys) c.139C>A (p.Gln47Lys) c.1163C>A c.327C>A (n.327C>A) c.832C>A (p.Gln278Lys) c.1210C>A (p.Gln404Lys) | |
| 8 | g.102208196A>C | CA371585621 | RRM2B | c.993T>G (p.Tyr331Ter) n.380T>G c.837T>G (p.Tyr279Ter) c.357T>G (p.Tyr119Ter) c.138T>G (p.Tyr46Ter) c.1162T>G c.326T>G (n.326T>G) c.831T>G (p.Tyr277Ter) c.1209T>G (p.Tyr403Ter) | |
| 8 | g.102208196A>G | CA462123737 | RRM2B | c.993T>C (p.Tyr331=) n.380T>C c.837T>C (p.Tyr279=) c.357T>C (p.Tyr119=) c.138T>C (p.Tyr46=) c.1162T>C c.326T>C (n.326T>C) c.831T>C (p.Tyr277=) c.1209T>C (p.Tyr403=) | |
| 8 | g.102208196A>T | CA371585622 | RRM2B | c.993T>A (p.Tyr331Ter) n.380T>A c.837T>A (p.Tyr279Ter) c.357T>A (p.Tyr119Ter) c.138T>A (p.Tyr46Ter) c.1162T>A c.326T>A (n.326T>A) c.831T>A (p.Tyr277Ter) c.1209T>A (p.Tyr403Ter) | |
| 8 | g.102208196_102208197insCCCACACT | CA2544314404 | RRM2B | c.992_993insAGTGTGGG (p.Tyr331Ter) n.379_380insAGTGTGGG c.836_837insAGTGTGGG (p.Tyr279Ter) c.356_357insAGTGTGGG (p.Tyr119Ter) c.137_138insAGTGTGGG (p.Tyr46Ter) c.1161_1162insAGTGTGGG c.325_326insAGTGTGGG (n.325_326insAGTGTGGG) c.830_831insAGTGTGGG (p.Tyr277Ter) c.1208_1209insAGTGTGGG (p.Tyr403Ter) | |
| 8 | g.102208197T>A | CA371585625 | RRM2B | c.992A>T (p.Tyr331Phe) n.379A>T c.836A>T (p.Tyr279Phe) c.356A>T (p.Tyr119Phe) c.137A>T (p.Tyr46Phe) c.1161A>T c.325A>T (n.325A>T) c.830A>T (p.Tyr277Phe) c.1208A>T (p.Tyr403Phe) | |
| 8 | g.102208197T>C | CA371585633 | RRM2B | c.992A>G (p.Tyr331Cys) n.379A>G c.836A>G (p.Tyr279Cys) c.356A>G (p.Tyr119Cys) c.137A>G (p.Tyr46Cys) c.1161A>G c.325A>G (n.325A>G) c.830A>G (p.Tyr277Cys) c.1208A>G (p.Tyr403Cys) | ClinVar |
| 8 | g.102208197T>G | CA371585637 | RRM2B | c.992A>C (p.Tyr331Ser) n.379A>C c.836A>C (p.Tyr279Ser) c.356A>C (p.Tyr119Ser) c.137A>C (p.Tyr46Ser) c.1161A>C c.325A>C (n.325A>C) c.830A>C (p.Tyr277Ser) c.1208A>C (p.Tyr403Ser) | |
| 8 | g.102208198A>C | CA371585647 | RRM2B | c.991T>G (p.Tyr331Asp) n.378T>G c.835T>G (p.Tyr279Asp) c.355T>G (p.Tyr119Asp) c.136T>G (p.Tyr46Asp) c.1160T>G c.324T>G (n.324T>G) c.829T>G (p.Tyr277Asp) c.1207T>G (p.Tyr403Asp) | |
| 8 | g.102208198A>G | CA371585654 | RRM2B | c.991T>C (p.Tyr331His) n.378T>C c.835T>C (p.Tyr279His) c.355T>C (p.Tyr119His) c.136T>C (p.Tyr46His) c.1160T>C c.324T>C (n.324T>C) c.829T>C (p.Tyr277His) c.1207T>C (p.Tyr403His) | |
| 8 | g.102208198A>T | CA371585653 | RRM2B | c.991T>A (p.Tyr331Asn) n.378T>A c.835T>A (p.Tyr279Asn) c.355T>A (p.Tyr119Asn) c.136T>A (p.Tyr46Asn) c.1160T>A c.324T>A (n.324T>A) c.829T>A (p.Tyr277Asn) c.1207T>A (p.Tyr403Asn) | |
| 8 | g.102208199C>A | CA371585655 | RRM2B | c.990G>T (p.Glu330Asp) n.377G>T c.834G>T (p.Glu278Asp) c.354G>T (p.Glu118Asp) c.135G>T (p.Glu45Asp) c.1159G>T c.323G>T (n.323G>T) c.828G>T (p.Glu276Asp) c.1206G>T (p.Glu402Asp) | |
| 8 | g.102208199C= | CA1806674676 | RRM2B | c.990G= (p.Glu330=) n.377G= c.834G= (p.Glu278=) c.354G= (p.Glu118=) c.135G= (p.Glu45=) c.1159G= c.323G= (n.323G=) c.828G= (p.Glu276=) c.1206G= (p.Glu402=) | |
| 8 | g.102208199C>G | CA371585661 | RRM2B | c.990G>C (p.Glu330Asp) n.377G>C c.834G>C (p.Glu278Asp) c.354G>C (p.Glu118Asp) c.135G>C (p.Glu45Asp) c.1159G>C c.323G>C (n.323G>C) c.828G>C (p.Glu276Asp) c.1206G>C (p.Glu402Asp) | |
| 8 | g.102208199C>T | CA182464186 | RRM2B | c.990G>A (p.Glu330=) n.377G>A c.834G>A (p.Glu278=) c.354G>A (p.Glu118=) c.135G>A (p.Glu45=) c.1159G>A c.323G>A (n.323G>A) c.828G>A (p.Glu276=) c.1206G>A (p.Glu402=) | dbSNP |
| 8 | g.102208200T>A | CA371585665 | RRM2B | c.989A>T (p.Glu330Val) n.376A>T c.833A>T (p.Glu278Val) c.353A>T (p.Glu118Val) c.134A>T (p.Glu45Val) c.1158A>T c.322A>T (n.322A>T) c.827A>T (p.Glu276Val) c.1205A>T (p.Glu402Val) | |
| 8 | g.102208200T>C | CA371585667 | RRM2B | c.989A>G (p.Glu330Gly) n.376A>G c.833A>G (p.Glu278Gly) c.353A>G (p.Glu118Gly) c.134A>G (p.Glu45Gly) c.1158A>G c.322A>G (n.322A>G) c.827A>G (p.Glu276Gly) c.1205A>G (p.Glu402Gly) | |
| 8 | g.102208200T>G | CA371585671 | RRM2B | c.989A>C (p.Glu330Ala) n.376A>C c.833A>C (p.Glu278Ala) c.353A>C (p.Glu118Ala) c.134A>C (p.Glu45Ala) c.1158A>C c.322A>C (n.322A>C) c.827A>C (p.Glu276Ala) c.1205A>C (p.Glu402Ala) | |
| 8 | g.102208201C>A | CA371585677 | RRM2B | c.988G>T (p.Glu330Ter) n.375G>T c.832G>T (p.Glu278Ter) c.352G>T (p.Glu118Ter) c.133G>T (p.Glu45Ter) c.1157G>T c.321G>T (n.321G>T) c.826G>T (p.Glu276Ter) c.1204G>T (p.Glu402Ter) | |
| 8 | g.102208201C>G | CA371585680 | RRM2B | c.988G>C (p.Glu330Gln) n.375G>C c.832G>C (p.Glu278Gln) c.352G>C (p.Glu118Gln) c.133G>C (p.Glu45Gln) c.1157G>C c.321G>C (n.321G>C) c.826G>C (p.Glu276Gln) c.1204G>C (p.Glu402Gln) | |
| 8 | g.102208201C>T | CA371585691 | RRM2B | c.988G>A (p.Glu330Lys) n.375G>A c.832G>A (p.Glu278Lys) c.352G>A (p.Glu118Lys) c.133G>A (p.Glu45Lys) c.1157G>A c.321G>A (n.321G>A) c.826G>A (p.Glu276Lys) c.1204G>A (p.Glu402Lys) | COSMIC |
| 8 | g.102208201_102208202insCGCAAA | CA2566191335 | RRM2B | c.987_988insTTTGCG (p.Ser329_Glu330insPheAla) n.374_375insTTTGCG c.831_832insTTTGCG (p.Ser277_Glu278insPheAla) c.351_352insTTTGCG (p.Ser117_Glu118insPheAla) c.132_133insTTTGCG (p.Ser44_Glu45insPheAla) c.1156_1157insTTTGCG c.320_321insTTTGCG (n.320_321insTTTGCG) c.825_826insTTTGCG (p.Ser275_Glu276insPheAla) c.1203_1204insTTTGCG (p.Ser401_Glu402insPheAla) | |
| 8 | g.102208202T>A | CA462123760 | RRM2B | c.987A>T (p.Ser329=) n.374A>T c.831A>T (p.Ser277=) c.351A>T (p.Ser117=) c.132A>T (p.Ser44=) c.1156A>T c.320A>T (n.320A>T) c.825A>T (p.Ser275=) c.1203A>T (p.Ser401=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.102208202T>C | CA462123757 | RRM2B | c.987A>G (p.Ser329=) n.374A>G c.831A>G (p.Ser277=) c.351A>G (p.Ser117=) c.132A>G (p.Ser44=) c.1156A>G c.320A>G (n.320A>G) c.825A>G (p.Ser275=) c.1203A>G (p.Ser401=) | |
| 8 | g.102208202T>G | CA462123756 | RRM2B | c.987A>C (p.Ser329=) n.374A>C c.831A>C (p.Ser277=) c.351A>C (p.Ser117=) c.132A>C (p.Ser44=) c.1156A>C c.320A>C (n.320A>C) c.825A>C (p.Ser275=) c.1203A>C (p.Ser401=) | dbSNP |
| 8 | g.102208202T= | CA1806674677 | RRM2B | c.987A= (p.Ser329=) n.374A= c.831A= (p.Ser277=) c.351A= (p.Ser117=) c.132A= (p.Ser44=) c.1156A= c.320A= (n.320A=) c.825A= (p.Ser275=) c.1203A= (p.Ser401=) | |
| 8 | g.102208203G>A | CA371585722 | RRM2B | c.986C>T (p.Ser329Leu) n.373C>T c.830C>T (p.Ser277Leu) c.350C>T (p.Ser117Leu) c.131C>T (p.Ser44Leu) c.1155C>T c.319C>T (n.319C>T) c.824C>T (p.Ser275Leu) c.1202C>T (p.Ser401Leu) | |
| 8 | g.102208203G>C | CA371585715 | RRM2B | c.986C>G (p.Ser329Ter) n.373C>G c.830C>G (p.Ser277Ter) c.350C>G (p.Ser117Ter) c.131C>G (p.Ser44Ter) c.1155C>G c.319C>G (n.319C>G) c.824C>G (p.Ser275Ter) c.1202C>G (p.Ser401Ter) | |
| 8 | g.102208203G>T | CA371585709 | RRM2B | c.986C>A (p.Ser329Ter) n.373C>A c.830C>A (p.Ser277Ter) c.350C>A (p.Ser117Ter) c.131C>A (p.Ser44Ter) c.1155C>A c.319C>A (n.319C>A) c.824C>A (p.Ser275Ter) c.1202C>A (p.Ser401Ter) | |
| 8 | g.102208204A>C | CA371585737 | RRM2B | c.985T>G (p.Ser329Ala) n.372T>G c.829T>G (p.Ser277Ala) c.349T>G (p.Ser117Ala) c.130T>G (p.Ser44Ala) c.1154T>G c.318T>G (n.318T>G) c.823T>G (p.Ser275Ala) c.1201T>G (p.Ser401Ala) | |
| 8 | g.102208204A>G | CA371585742 | RRM2B | c.985T>C (p.Ser329Pro) n.372T>C c.829T>C (p.Ser277Pro) c.349T>C (p.Ser117Pro) c.130T>C (p.Ser44Pro) c.1154T>C c.318T>C (n.318T>C) c.823T>C (p.Ser275Pro) c.1201T>C (p.Ser401Pro) | |
| 8 | g.102208204A>T | CA371585746 | RRM2B | c.985T>A (p.Ser329Thr) n.372T>A c.829T>A (p.Ser277Thr) c.349T>A (p.Ser117Thr) c.130T>A (p.Ser44Thr) c.1154T>A c.318T>A (n.318T>A) c.823T>A (p.Ser275Thr) c.1201T>A (p.Ser401Thr) | |
| 8 | g.102208205A>C | CA462123762 | RRM2B | c.984T>G (p.Val328=) n.371T>G c.828T>G (p.Val276=) c.348T>G (p.Val116=) c.129T>G (p.Val43=) c.1153T>G c.317T>G (n.317T>G) c.822T>G (p.Val274=) c.1200T>G (p.Val400=) | |
| 8 | g.102208205A>G | CA462123765 | RRM2B | c.984T>C (p.Val328=) n.371T>C c.828T>C (p.Val276=) c.348T>C (p.Val116=) c.129T>C (p.Val43=) c.1153T>C c.317T>C (n.317T>C) c.822T>C (p.Val274=) c.1200T>C (p.Val400=) | |
| 8 | g.102208205A>T | CA462123770 | RRM2B | c.984T>A (p.Val328=) n.371T>A c.828T>A (p.Val276=) c.348T>A (p.Val116=) c.129T>A (p.Val43=) c.1153T>A c.317T>A (n.317T>A) c.822T>A (p.Val274=) c.1200T>A (p.Val400=) | |
| 8 | g.102208205_102208206insGCGCGAATGC | CA2553242998 | RRM2B | c.983_984insGCATTCGCGC (p.Ser329HisfsTer18) n.370_371insGCATTCGCGC c.827_828insGCATTCGCGC (p.Ser277HisfsTer18) c.347_348insGCATTCGCGC (p.Ser117HisfsTer18) c.128_129insGCATTCGCGC (p.Ser44HisfsTer18) c.1152_1153insGCATTCGCGC c.316_317insGCATTCGCGC (n.316_317insGCATTCGCGC) c.821_822insGCATTCGCGC (p.Ser275HisfsTer18) c.1199_1200insGCATTCGCGC (p.Ser401HisfsTer18) | |
| 8 | g.102208206A>C | CA371585752 | RRM2B | c.983T>G (p.Val328Gly) n.370T>G c.827T>G (p.Val276Gly) c.347T>G (p.Val116Gly) c.128T>G (p.Val43Gly) c.1152T>G c.316T>G (n.316T>G) c.821T>G (p.Val274Gly) c.1199T>G (p.Val400Gly) | |
| 8 | g.102208206A>G | CA371585755 | RRM2B | c.983T>C (p.Val328Ala) n.370T>C c.827T>C (p.Val276Ala) c.347T>C (p.Val116Ala) c.128T>C (p.Val43Ala) c.1152T>C c.316T>C (n.316T>C) c.821T>C (p.Val274Ala) c.1199T>C (p.Val400Ala) | |
| 8 | g.102208206A>T | CA371585761 | RRM2B | c.983T>A (p.Val328Asp) n.370T>A c.827T>A (p.Val276Asp) c.347T>A (p.Val116Asp) c.128T>A (p.Val43Asp) c.1152T>A c.316T>A (n.316T>A) c.821T>A (p.Val274Asp) c.1199T>A (p.Val400Asp) | |
| 8 | g.102208207C>A | CA371585771 | RRM2B | c.982G>T (p.Val328Phe) n.369G>T c.826G>T (p.Val276Phe) c.346G>T (p.Val116Phe) c.127G>T (p.Val43Phe) c.1151G>T c.315G>T (n.315G>T) c.820G>T (p.Val274Phe) c.1198G>T (p.Val400Phe) | gnomAD v4 |
| 8 | g.102208207C>G | CA371585775 | RRM2B | c.982G>C (p.Val328Leu) n.369G>C c.826G>C (p.Val276Leu) c.346G>C (p.Val116Leu) c.127G>C (p.Val43Leu) c.1151G>C c.315G>C (n.315G>C) c.820G>C (p.Val274Leu) c.1198G>C (p.Val400Leu) | |
| 8 | g.102208207C>T | CA371585778 | RRM2B | c.982G>A (p.Val328Ile) n.369G>A c.826G>A (p.Val276Ile) c.346G>A (p.Val116Ile) c.127G>A (p.Val43Ile) c.1151G>A c.315G>A (n.315G>A) c.820G>A (p.Val274Ile) c.1198G>A (p.Val400Ile) | |
| 8 | g.102208208T>A | CA462123778 | RRM2B | c.981A>T (p.Arg327=) n.368A>T c.825A>T (p.Arg275=) c.345A>T (p.Arg115=) c.126A>T (p.Arg42=) c.1150A>T c.314A>T (n.314A>T) c.819A>T (p.Arg273=) c.1197A>T (p.Arg399=) | |
| 8 | g.102208208T>C | CA462123783 | RRM2B | c.981A>G (p.Arg327=) n.368A>G c.825A>G (p.Arg275=) c.345A>G (p.Arg115=) c.126A>G (p.Arg42=) c.1150A>G c.314A>G (n.314A>G) c.819A>G (p.Arg273=) c.1197A>G (p.Arg399=) | |
| 8 | g.102208208T>G | CA462123780 | RRM2B | c.981A>C (p.Arg327=) n.368A>C c.825A>C (p.Arg275=) c.345A>C (p.Arg115=) c.126A>C (p.Arg42=) c.1150A>C c.314A>C (n.314A>C) c.819A>C (p.Arg273=) c.1197A>C (p.Arg399=) | dbSNP |
| 8 | g.102208209C>A | CA371585781 | RRM2B | c.980G>T (p.Arg327Leu) n.367G>T c.824G>T (p.Arg275Leu) c.344G>T (p.Arg115Leu) c.125G>T (p.Arg42Leu) c.1149G>T c.313G>T (n.313G>T) c.818G>T (p.Arg273Leu) c.1196G>T (p.Arg399Leu) | |
| 8 | g.102208209C>G | CA371585791 | RRM2B | c.980G>C (p.Arg327Pro) n.367G>C c.824G>C (p.Arg275Pro) c.344G>C (p.Arg115Pro) c.125G>C (p.Arg42Pro) c.1149G>C c.313G>C (n.313G>C) c.818G>C (p.Arg273Pro) c.1196G>C (p.Arg399Pro) | COSMIC |
| 8 | g.102208209C>T | CA371585795 | RRM2B | c.980G>A (p.Arg327Gln) n.367G>A c.824G>A (p.Arg275Gln) c.344G>A (p.Arg115Gln) c.125G>A (p.Arg42Gln) c.1149G>A c.313G>A (n.313G>A) c.818G>A (p.Arg273Gln) c.1196G>A (p.Arg399Gln) | gnomAD v4 |
| 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) | |
| 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) |