Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.102208089A>G | CA2688143427 | RRM2B | c.*44T>C (n.*44T>C) n.487T>C c.1269T>C | gnomAD v4 |
8 | g.102208090T>C | CA1806674641 | RRM2B | c.*43A>G (n.*43A>G) n.486A>G c.1268A>G | dbSNP gnomAD v4 |
8 | g.102208090T= | CA1806674640 | RRM2B | c.*43A= (n.*43A=) n.486A= c.1268A= | |
8 | g.102208091T>C | CA2688143428 | RRM2B | c.*42A>G (n.*42A>G) n.485A>G c.1267A>G | gnomAD v4 |
8 | g.102208092T>A | CA2688143429 | RRM2B | c.*41A>T (n.*41A>T) n.484A>T c.1266A>T | gnomAD v4 |
8 | g.102208093A>G | CA652596445 | RRM2B | c.*40T>C (n.*40T>C) n.483T>C c.1265T>C | gnomAD v4 COSMIC |
8 | g.102208093A>T | CA2688143430 | RRM2B | c.*40T>A (n.*40T>A) n.483T>A c.1265T>A | gnomAD v4 |
8 | g.102208094C>G | CA2688143431 | RRM2B | c.*39G>C (n.*39G>C) n.482G>C c.1264G>C | gnomAD v4 |
8 | g.102208095C>A | CA2688143432 | RRM2B | c.*38G>T (n.*38G>T) n.481G>T c.1263G>T | gnomAD v4 |
8 | g.102208095C= | CA1806674642 | RRM2B | c.*38G= (n.*38G=) n.481G= c.1263G= | |
8 | g.102208095C>G | CA1806674644 | RRM2B | c.*38G>C (n.*38G>C) n.481G>C c.1263G>C | dbSNP |
8 | g.102208095C>T | CA1806674643 | RRM2B | c.*38G>A (n.*38G>A) n.481G>A c.1263G>A | dbSNP gnomAD v4 |
8 | g.102208096A= | CA1806674645 | RRM2B | c.*37T= (n.*37T=) n.480T= c.1262T= | |
8 | g.102208096A>C | CA583906469 | RRM2B | c.*37T>G (n.*37T>G) n.480T>G c.1262T>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.102208096A>G | CA844764499 | RRM2B | c.*37T>C (n.*37T>C) n.480T>C c.1262T>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.102208096A>T | CA4830947 | RRM2B | c.*37T>A (n.*37T>A) n.480T>A c.1262T>A | dbSNP ExAC gnomAD v2 |
8 | g.102208098T>C | CA4830948 | RRM2B | c.*35A>G (n.*35A>G) n.478A>G c.1260A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.102208098T= | CA1806674646 | RRM2B | c.*35A= (n.*35A=) n.478A= c.1260A= | |
8 | g.102208099G>T | CA2579221156 | RRM2B | c.*34C>A (n.*34C>A) n.477C>A c.1259C>A | gnomAD v4 |
8 | g.102208100A>C | CA2688143433 | RRM2B | c.*33T>G (n.*33T>G) n.476T>G c.1258T>G | gnomAD v4 |
8 | g.102208100A>G | CA2688143434 | RRM2B | c.*33T>C (n.*33T>C) n.476T>C c.1258T>C | gnomAD v4 |
8 | g.102208101C= | CA1806674647 | RRM2B | c.*32G= (n.*32G=) n.475G= c.1257G= | |
8 | g.102208101C>T | CA4830949 | RRM2B | c.*32G>A (n.*32G>A) n.475G>A c.1257G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.102208102A>G | CA2688143435 | RRM2B | c.*31T>C (n.*31T>C) n.474T>C c.1256T>C | gnomAD v4 |
8 | g.102208104G>T | CA2688143436 | RRM2B | c.*29C>A (n.*29C>A) n.472C>A c.1254C>A | gnomAD v4 |
8 | g.102208105T>G | CA2688143437 | RRM2B | c.*28A>C (n.*28A>C) n.471A>C c.1253A>C | gnomAD v4 |
8 | g.102208106T>A | CA2688143438 | RRM2B | c.*27A>T (n.*27A>T) n.470A>T c.1252A>T | gnomAD v4 |
8 | g.102208107T>C | CA2688143439 | RRM2B | c.*26A>G (n.*26A>G) n.469A>G c.1251A>G | gnomAD v4 |
8 | g.102208109T>C | CA583906475 | RRM2B | c.*24A>G (n.*24A>G) n.467A>G c.1249A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.102208109T= | CA1806674648 | RRM2B | c.*24A= (n.*24A=) n.467A= c.1249A= | |
8 | g.102208110A= | CA1806674649 | RRM2B | c.*23T= (n.*23T=) n.466T= c.1248T= | |
8 | g.102208110A>G | CA4830950 | RRM2B | c.*23T>C (n.*23T>C) n.466T>C c.1248T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.102208112_102208113del | CA2579221157 | RRM2B | c.*22_*23del (n.*22_*23del) n.465_466del c.1247_1248del | gnomAD v4 |
8 | g.102208111G>T | CA2688143440 | RRM2B | c.*22C>A (n.*22C>A) n.465C>A c.1247C>A | gnomAD v4 |
8 | g.102208112A= | CA1806674650 | RRM2B | c.*21T= (n.*21T=) n.464T= c.1246T= | |
8 | g.102208112A>C | CA4830951 | RRM2B | c.*21T>G (n.*21T>G) n.464T>G c.1246T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.102208113G>A | CA583906499 | RRM2B | c.*20C>T (n.*20C>T) n.463C>T c.1245C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.102208113G>C | CA1117296852 | RRM2B | c.*20C>G (n.*20C>G) n.463C>G c.1245C>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.102208113G= | CA1806674651 | RRM2B | c.*20C= (n.*20C=) n.463C= c.1245C= | |
8 | g.102208119A>G | CA2688143441 | RRM2B | c.*14T>C (n.*14T>C) n.457T>C c.1239T>C | gnomAD v4 |
8 | g.102208121A>C | CA2781539894 | RRM2B | c.*12T>G (n.*12T>G) n.455T>G c.1237T>G | |
8 | g.102208121A>G | CA2688143442 | RRM2B | c.*12T>C (n.*12T>C) n.455T>C c.1237T>C | gnomAD v4 |
8 | g.102208121_102208123delinsACG | CA1806674652 | RRM2B | c.*10_*12delinsCGT (n.*10_*12delinsCGT) n.453_455delinsCGT c.1235_1237delinsCGT | |
8 | g.102208122C>A | CA182464131 | RRM2B | c.*11G>T (n.*11G>T) n.454G>T c.1236G>T | dbSNP gnomAD v4 |
8 | g.102208122C= | CA1806674653 | RRM2B | c.*11G= (n.*11G=) n.454G= c.1236G= | |
8 | g.102208122C>T | CA4830952 | RRM2B | c.*11G>A (n.*11G>A) n.454G>A c.1236G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.102208122_102208123delinsT | CA918329285 | RRM2B | c.*10_*11delinsA (n.*10_*11delinsA) n.453_454delinsA c.1235_1236delinsA | dbSNP |
8 | g.102208122_102208123delinsCG | CA1806674654 | RRM2B | c.*10_*11delinsCG (n.*10_*11delinsCG) n.453_454delinsCG c.1235_1236delinsCG | |
8 | g.102208123del | CA918329286 | RRM2B | c.*10del (n.*10del) n.453del c.1235del | dbSNP |
8 | g.102208123G>A | CA182464137 | RRM2B | c.*10C>T (n.*10C>T) n.453C>T c.1235C>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.102208123G>C | CA1806674655 | RRM2B | c.*10C>G (n.*10C>G) n.453C>G c.1235C>G | dbSNP |
8 | g.102208123G= | CA4830953 | RRM2B | c.*10C= (n.*10C=) n.453C= c.1235C= | |
8 | g.102208123G>T | CA4830954 | RRM2B | c.*10C>A (n.*10C>A) n.453C>A c.1235C>A | dbSNP gnomAD v4 |
8 | g.102208126_102208127del | CA2688143443 | RRM2B | c.*9_*10del (n.*9_*10del) n.452_453del c.1234_1235del | gnomAD v4 |
8 | g.102208124A= | CA1806674656 | RRM2B | c.*9T= (n.*9T=) n.452T= c.1234T= | |
8 | g.102208124A>G | CA844764529 | RRM2B | c.*9T>C (n.*9T>C) n.452T>C c.1234T>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.102208125G>A | CA652596465 | RRM2B | c.*8C>T (n.*8C>T) n.451C>T c.1233C>T | COSMIC COSMIC |
8 | g.102208125G>C | CA182464163 | RRM2B | c.*8C>G (n.*8C>G) n.451C>G c.1233C>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.102208125G= | CA1806674657 | RRM2B | c.*8C= (n.*8C=) n.451C= c.1233C= | |
8 | g.102208127G>A | CA583906512 | RRM2B | c.*6C>T (n.*6C>T) n.449C>T c.1231C>T | dbSNP gnomAD v2 |
8 | g.102208127G= | CA1806674658 | RRM2B | c.*6C= (n.*6C=) n.449C= c.1231C= | |
8 | g.102208127G>T | CA2688143444 | RRM2B | c.*6C>A (n.*6C>A) n.449C>A c.1231C>A | gnomAD v4 |
8 | g.102208128G>A | CA4830955 | RRM2B | c.*5C>T (n.*5C>T) n.448C>T c.1230C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.102208128G= | CA1806674659 | RRM2B | c.*5C= (n.*5C=) n.448C= c.1230C= | |
8 | g.102208128G>T | CA2688143445 | RRM2B | c.*5C>A (n.*5C>A) n.448C>A c.1230C>A | gnomAD v4 |
8 | g.102208129T>C | CA915674870 | RRM2B | c.*4A>G (n.*4A>G) n.447A>G c.1229A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.102208129T= | CA1806674660 | RRM2B | c.*4A= (n.*4A=) n.447A= c.1229A= | |
8 | g.102208134dup | CA658822818 | RRM2B | c.*4dup (n.*4dup) n.447dup c.1229dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.102208130T>G | CA2688143446 | RRM2B | c.*3A>C (n.*3A>C) n.446A>C c.1228A>C | gnomAD v4 |
8 | g.102208133T>A | CA371585158 | RRM2B | c.1056A>T (p.Ter352Tyr) n.443A>T c.900A>T (p.Ter300Tyr) c.420A>T (p.Ter140Tyr) c.201A>T (p.Ter67Tyr) c.1225A>T c.389A>T (n.389A>T) c.894A>T (p.Ter298Tyr) c.1272A>T (p.Ter424Tyr) | |
8 | g.102208133T>C | CA462123648 | RRM2B | c.1056A>G (p.Ter352=) n.443A>G c.900A>G (p.Ter300=) c.420A>G (p.Ter140=) c.201A>G (p.Ter67=) c.1225A>G c.389A>G (n.389A>G) c.894A>G (p.Ter298=) c.1272A>G (p.Ter424=) | |
8 | g.102208133T>G | CA371585163 | RRM2B | c.1056A>C (p.Ter352Tyr) n.443A>C c.900A>C (p.Ter300Tyr) c.420A>C (p.Ter140Tyr) c.201A>C (p.Ter67Tyr) c.1225A>C c.389A>C (n.389A>C) c.894A>C (p.Ter298Tyr) c.1272A>C (p.Ter424Tyr) | |
8 | g.102208134T>A | CA371585165 | RRM2B | c.1055A>T (p.Ter352Leu) n.442A>T c.899A>T (p.Ter300Leu) c.419A>T (p.Ter140Leu) c.200A>T (p.Ter67Leu) c.1224A>T c.388A>T (n.388A>T) c.893A>T (p.Ter298Leu) c.1271A>T (p.Ter424Leu) | |
8 | g.102208134T>C | CA462123649 | RRM2B | c.1055A>G (p.Ter352=) n.442A>G c.899A>G (p.Ter300=) c.419A>G (p.Ter140=) c.200A>G (p.Ter67=) c.1224A>G c.388A>G (n.388A>G) c.893A>G (p.Ter298=) c.1271A>G (p.Ter424=) | |
8 | g.102208134T>G | CA371585167 | RRM2B | c.1055A>C (p.Ter352Ser) n.442A>C c.899A>C (p.Ter300Ser) c.419A>C (p.Ter140Ser) c.200A>C (p.Ter67Ser) c.1224A>C c.388A>C (n.388A>C) c.893A>C (p.Ter298Ser) c.1271A>C (p.Ter424Ser) | |
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) |