| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114677994A= | CA1143581691 | AMPD1 | c.1128T= (p.Asn376=) c.1140T= (p.Asn380=) c.923T= (n.923T=) n.805T= c.1227T= (p.Asn409=) c.1239T= (p.Asn413=) | |
| 1 | g.114677994A>C | CA341749123 | AMPD1 | c.1128T>G (p.Asn376Lys) c.1140T>G (p.Asn380Lys) c.923T>G (n.923T>G) n.805T>G c.1227T>G (p.Asn409Lys) c.1239T>G (p.Asn413Lys) | |
| 1 | g.114677994A>G | CA29055386 | AMPD1 | c.1128T>C (p.Asn376=) c.1140T>C (p.Asn380=) c.923T>C (n.923T>C) n.805T>C c.1227T>C (p.Asn409=) c.1239T>C (p.Asn413=) | dbSNP gnomAD v4 |
| 1 | g.114677994A>T | CA341749124 | AMPD1 | c.1128T>A (p.Asn376Lys) c.1140T>A (p.Asn380Lys) c.923T>A (n.923T>A) n.805T>A c.1227T>A (p.Asn409Lys) c.1239T>A (p.Asn413Lys) | gnomAD v4 |
| 1 | g.114677995T>A | CA341749127 | AMPD1 | c.1127A>T (p.Asn376Ile) c.1139A>T (p.Asn380Ile) c.922A>T (n.922A>T) n.804A>T c.1226A>T (p.Asn409Ile) c.1238A>T (p.Asn413Ile) | |
| 1 | g.114677995T>C | CA341749126 | AMPD1 | c.1127A>G (p.Asn376Ser) c.1139A>G (p.Asn380Ser) c.922A>G (n.922A>G) n.804A>G c.1226A>G (p.Asn409Ser) c.1238A>G (p.Asn413Ser) | |
| 1 | g.114677995T>G | CA341749125 | AMPD1 | c.1127A>C (p.Asn376Thr) c.1139A>C (p.Asn380Thr) c.922A>C (n.922A>C) n.804A>C c.1226A>C (p.Asn409Thr) c.1238A>C (p.Asn413Thr) | |
| 1 | g.114677996T>A | CA341749129 | AMPD1 | c.1126A>T (p.Asn376Tyr) c.1138A>T (p.Asn380Tyr) c.921A>T (n.921A>T) n.803A>T c.1225A>T (p.Asn409Tyr) c.1237A>T (p.Asn413Tyr) | |
| 1 | g.114677996T>C | CA341749128 | AMPD1 | c.1126A>G (p.Asn376Asp) c.1138A>G (p.Asn380Asp) c.921A>G (n.921A>G) n.803A>G c.1225A>G (p.Asn409Asp) c.1237A>G (p.Asn413Asp) | |
| 1 | g.114677996T>G | CA341749130 | AMPD1 | c.1126A>C (p.Asn376His) c.1138A>C (p.Asn380His) c.921A>C (n.921A>C) n.803A>C c.1225A>C (p.Asn409His) c.1237A>C (p.Asn413His) | |
| 1 | g.114677997A>C | CA341749131 | AMPD1 | c.1125T>G (p.Tyr375Ter) c.1137T>G (p.Tyr379Ter) c.920T>G (n.920T>G) n.802T>G c.1224T>G (p.Tyr408Ter) c.1236T>G (p.Tyr412Ter) | |
| 1 | g.114677997A>G | CA419883121 | AMPD1 | c.1125T>C (p.Tyr375=) c.1137T>C (p.Tyr379=) c.920T>C (n.920T>C) n.802T>C c.1224T>C (p.Tyr408=) c.1236T>C (p.Tyr412=) | |
| 1 | g.114677997A>T | CA341749132 | AMPD1 | c.1125T>A (p.Tyr375Ter) c.1137T>A (p.Tyr379Ter) c.920T>A (n.920T>A) n.802T>A c.1224T>A (p.Tyr408Ter) c.1236T>A (p.Tyr412Ter) | |
| 1 | g.114677998T>A | CA341749133 | AMPD1 | c.1124A>T (p.Tyr375Phe) c.1136A>T (p.Tyr379Phe) c.919A>T (n.919A>T) n.801A>T c.1223A>T (p.Tyr408Phe) c.1235A>T (p.Tyr412Phe) | |
| 1 | g.114677998T>C | CA341749134 | AMPD1 | c.1124A>G (p.Tyr375Cys) c.1136A>G (p.Tyr379Cys) c.919A>G (n.919A>G) n.801A>G c.1223A>G (p.Tyr408Cys) c.1235A>G (p.Tyr412Cys) | |
| 1 | g.114677998T>G | CA341749135 | AMPD1 | c.1124A>C (p.Tyr375Ser) c.1136A>C (p.Tyr379Ser) c.919A>C (n.919A>C) n.801A>C c.1223A>C (p.Tyr408Ser) c.1235A>C (p.Tyr412Ser) | |
| 1 | g.114677999A>C | CA341749136 | AMPD1 | c.1123T>G (p.Tyr375Asp) c.1135T>G (p.Tyr379Asp) c.918T>G (n.918T>G) n.800T>G c.1222T>G (p.Tyr408Asp) c.1234T>G (p.Tyr412Asp) | |
| 1 | g.114677999A>G | CA341749137 | AMPD1 | c.1123T>C (p.Tyr375His) c.1135T>C (p.Tyr379His) c.918T>C (n.918T>C) n.800T>C c.1222T>C (p.Tyr408His) c.1234T>C (p.Tyr412His) | gnomAD v4 |
| 1 | g.114677999A>T | CA341749138 | AMPD1 | c.1123T>A (p.Tyr375Asn) c.1135T>A (p.Tyr379Asn) c.918T>A (n.918T>A) n.800T>A c.1222T>A (p.Tyr408Asn) c.1234T>A (p.Tyr412Asn) | |
| 1 | g.114677999_114678001delinsATT | CA1190276623 | AMPD1 | c.1121_1123delinsAAT (p.Lys374=) c.1133_1135delinsAAT (p.Lys378=) c.916_918delinsAAT (n.916_918delinsAAT) n.798_800delinsAAT c.1220_1222delinsAAT (p.Lys407=) c.1232_1234delinsAAT (p.Lys411=) | |
| 1 | g.114678000T>A | CA341749139 | AMPD1 | c.1122A>T (p.Lys374Asn) c.1134A>T (p.Lys378Asn) c.917A>T (n.917A>T) n.799A>T c.1221A>T (p.Lys407Asn) c.1233A>T (p.Lys411Asn) | |
| 1 | g.114678000T>C | CA419883122 | AMPD1 | c.1122A>G (p.Lys374=) c.1134A>G (p.Lys378=) c.917A>G (n.917A>G) n.799A>G c.1221A>G (p.Lys407=) c.1233A>G (p.Lys411=) | |
| 1 | g.114678000T>G | CA341749140 | AMPD1 | c.1122A>C (p.Lys374Asn) c.1134A>C (p.Lys378Asn) c.917A>C (n.917A>C) n.799A>C c.1221A>C (p.Lys407Asn) c.1233A>C (p.Lys411Asn) | |
| 1 | g.114678001_114678002del | CA525418509 | AMPD1 | c.1121_1122del (p.Lys374IlefsTer2) c.1133_1134del (p.Lys378IlefsTer2) c.916_917del (n.916_917del) n.798_799del c.1220_1221del (p.Lys407IlefsTer2) c.1232_1233del (p.Lys411IlefsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.114678001T>A | CA341749141 | AMPD1 | c.1121A>T (p.Lys374Ile) c.1133A>T (p.Lys378Ile) c.916A>T (n.916A>T) n.798A>T c.1220A>T (p.Lys407Ile) c.1232A>T (p.Lys411Ile) | |
| 1 | g.114678001T>C | CA341749142 | AMPD1 | c.1121A>G (p.Lys374Arg) c.1133A>G (p.Lys378Arg) c.916A>G (n.916A>G) n.798A>G c.1220A>G (p.Lys407Arg) c.1232A>G (p.Lys411Arg) | dbSNP |
| 1 | g.114678001T>G | CA341749143 | AMPD1 | c.1121A>C (p.Lys374Thr) c.1133A>C (p.Lys378Thr) c.916A>C (n.916A>C) n.798A>C c.1220A>C (p.Lys407Thr) c.1232A>C (p.Lys411Thr) | |
| 1 | g.114678001T= | CA1190276624 | AMPD1 | c.1121A= (p.Lys374=) c.1133A= (p.Lys378=) c.916A= (n.916A=) n.798A= c.1220A= (p.Lys407=) c.1232A= (p.Lys411=) | |
| 1 | g.114678002T>A | CA341749144 | AMPD1 | c.1120A>T (p.Lys374Ter) c.1132A>T (p.Lys378Ter) c.915A>T (n.915A>T) n.797A>T c.1219A>T (p.Lys407Ter) c.1231A>T (p.Lys411Ter) | |
| 1 | g.114678002T>C | CA341749145 | AMPD1 | c.1120A>G (p.Lys374Glu) c.1132A>G (p.Lys378Glu) c.915A>G (n.915A>G) n.797A>G c.1219A>G (p.Lys407Glu) c.1231A>G (p.Lys411Glu) | |
| 1 | g.114678002T>G | CA29055391 | AMPD1 | c.1120A>C (p.Lys374Gln) c.1132A>C (p.Lys378Gln) c.915A>C (n.915A>C) n.797A>C c.1219A>C (p.Lys407Gln) c.1231A>C (p.Lys411Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.114678002T= | CA1147283936 | AMPD1 | c.1120A= (p.Lys374=) c.1132A= (p.Lys378=) c.915A= (n.915A=) n.797A= c.1219A= (p.Lys407=) c.1231A= (p.Lys411=) | |
| 1 | g.114678003G>A | CA419883123 | AMPD1 | c.1119C>T (p.Asp373=) c.1131C>T (p.Asp377=) c.914C>T (n.914C>T) n.796C>T c.1218C>T (p.Asp406=) c.1230C>T (p.Asp410=) | gnomAD v4 |
| 1 | g.114678003G>C | CA341749146 | AMPD1 | c.1119C>G (p.Asp373Glu) c.1131C>G (p.Asp377Glu) c.914C>G (n.914C>G) n.796C>G c.1218C>G (p.Asp406Glu) c.1230C>G (p.Asp410Glu) | |
| 1 | g.114678003G>T | CA341749147 | AMPD1 | c.1119C>A (p.Asp373Glu) c.1131C>A (p.Asp377Glu) c.914C>A (n.914C>A) n.796C>A c.1218C>A (p.Asp406Glu) c.1230C>A (p.Asp410Glu) | |
| 1 | g.114678004T>A | CA341749148 | AMPD1 | c.1118A>T (p.Asp373Val) c.1130A>T (p.Asp377Val) c.913A>T (n.913A>T) n.795A>T c.1217A>T (p.Asp406Val) c.1229A>T (p.Asp410Val) | |
| 1 | g.114678004T>C | CA1020208 | AMPD1 | c.1118A>G (p.Asp373Gly) c.1130A>G (p.Asp377Gly) c.913A>G (n.913A>G) n.795A>G c.1217A>G (p.Asp406Gly) c.1229A>G (p.Asp410Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.114678004T>G | CA341749149 | AMPD1 | c.1118A>C (p.Asp373Ala) c.1130A>C (p.Asp377Ala) c.913A>C (n.913A>C) n.795A>C c.1217A>C (p.Asp406Ala) c.1229A>C (p.Asp410Ala) | |
| 1 | g.114678004T= | CA1149060783 | AMPD1 | c.1118A= (p.Asp373=) c.1130A= (p.Asp377=) c.913A= (n.913A=) n.795A= c.1217A= (p.Asp406=) c.1229A= (p.Asp410=) | |
| 1 | g.114678005del | CA2696723539 | AMPD1 | c.1117del (p.Asp373ThrfsTer6) c.1129del (p.Asp377ThrfsTer6) c.912del (n.912del) n.794del c.1216del (p.Asp406ThrfsTer6) c.1228del (p.Asp410ThrfsTer6) | dbSNP |
| 1 | g.114678005C>A | CA341749150 | AMPD1 | c.1117G>T (p.Asp373Tyr) c.1129G>T (p.Asp377Tyr) c.912G>T (n.912G>T) n.794G>T c.1216G>T (p.Asp406Tyr) c.1228G>T (p.Asp410Tyr) | |
| 1 | g.114678005C>G | CA341749151 | AMPD1 | c.1117G>C (p.Asp373His) c.1129G>C (p.Asp377His) c.912G>C (n.912G>C) n.794G>C c.1216G>C (p.Asp406His) c.1228G>C (p.Asp410His) | |
| 1 | g.114678005C>T | CA341749152 | AMPD1 | c.1117G>A (p.Asp373Asn) c.1129G>A (p.Asp377Asn) c.912G>A (n.912G>A) n.794G>A c.1216G>A (p.Asp406Asn) c.1228G>A (p.Asp410Asn) | |
| 1 | g.114678006A>C | CA341749153 | AMPD1 | c.1116T>G (p.Asn372Lys) c.1128T>G (p.Asn376Lys) c.911T>G (n.911T>G) n.793T>G c.1215T>G (p.Asn405Lys) c.1227T>G (p.Asn409Lys) | |
| 1 | g.114678006A>G | CA419883124 | AMPD1 | c.1116T>C (p.Asn372=) c.1128T>C (p.Asn376=) c.911T>C (n.911T>C) n.793T>C c.1215T>C (p.Asn405=) c.1227T>C (p.Asn409=) | COSMIC COSMIC |
| 1 | g.114678006A>T | CA341749154 | AMPD1 | c.1116T>A (p.Asn372Lys) c.1128T>A (p.Asn376Lys) c.911T>A (n.911T>A) n.793T>A c.1215T>A (p.Asn405Lys) c.1227T>A (p.Asn409Lys) | |
| 1 | g.114678007T>A | CA341749156 | AMPD1 | c.1115A>T (p.Asn372Ile) c.1127A>T (p.Asn376Ile) c.910A>T (n.910A>T) n.792A>T c.1214A>T (p.Asn405Ile) c.1226A>T (p.Asn409Ile) | |
| 1 | g.114678007T>C | CA341749157 | AMPD1 | c.1115A>G (p.Asn372Ser) c.1127A>G (p.Asn376Ser) c.910A>G (n.910A>G) n.792A>G c.1214A>G (p.Asn405Ser) c.1226A>G (p.Asn409Ser) | |
| 1 | g.114678007T>G | CA341749155 | AMPD1 | c.1115A>C (p.Asn372Thr) c.1127A>C (p.Asn376Thr) c.910A>C (n.910A>C) n.792A>C c.1214A>C (p.Asn405Thr) c.1226A>C (p.Asn409Thr) | |
| 1 | g.114678008T>A | CA341749158 | AMPD1 | c.1114A>T (p.Asn372Tyr) c.1126A>T (p.Asn376Tyr) c.909A>T (n.909A>T) n.791A>T c.1213A>T (p.Asn405Tyr) c.1225A>T (p.Asn409Tyr) |