Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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>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) |