| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114677986C>A | CA341749108 | AMPD1 | c.1136G>T (p.Gly379Val) c.1148G>T (p.Gly383Val) n.931G>T (n.931G>T) n.813G>T c.1235G>T (p.Gly412Val) c.1247G>T (p.Gly416Val) | |
| 1 | g.114677986C= | CA1190276618 | AMPD1 | c.1136G= (p.Gly379=) c.1148G= (p.Gly383=) n.931G= (n.931G=) n.813G= c.1235G= (p.Gly412=) c.1247G= (p.Gly416=) | |
| 1 | g.114677986C>G | CA341749109 | AMPD1 | c.1136G>C (p.Gly379Ala) c.1148G>C (p.Gly383Ala) n.931G>C (n.931G>C) n.813G>C c.1235G>C (p.Gly412Ala) c.1247G>C (p.Gly416Ala) | |
| 1 | g.114677986C>T | CA1020206 | AMPD1 | c.1136G>A (p.Gly379Glu) c.1148G>A (p.Gly383Glu) n.931G>A (n.931G>A) n.813G>A c.1235G>A (p.Gly412Glu) c.1247G>A (p.Gly416Glu) | ClinVar dbSNP ExAC gnomAD |
| 1 | g.114677987C>A | CA341749110 | AMPD1 | c.1135G>T (p.Gly379Ter) c.1147G>T (p.Gly383Ter) n.930G>T (n.930G>T) n.812G>T c.1234G>T (p.Gly412Ter) c.1246G>T (p.Gly416Ter) | COSMIC COSMIC |
| 1 | g.114677987C= | CA1190276619 | AMPD1 | c.1135G= (p.Gly379=) c.1147G= (p.Gly383=) n.930G= (n.930G=) n.812G= c.1234G= (p.Gly412=) c.1246G= (p.Gly416=) | |
| 1 | g.114677987C>G | CA341749111 | AMPD1 | c.1135G>C (p.Gly379Arg) c.1147G>C (p.Gly383Arg) n.930G>C (n.930G>C) n.812G>C c.1234G>C (p.Gly412Arg) c.1246G>C (p.Gly416Arg) | |
| 1 | g.114677987C>T | CA341749112 | AMPD1 | c.1135G>A (p.Gly379Arg) c.1147G>A (p.Gly383Arg) n.930G>A (n.930G>A) n.812G>A c.1234G>A (p.Gly412Arg) c.1246G>A (p.Gly416Arg) | |
| 1 | g.114677988T>A | CA419883115 | AMPD1 | c.1134A>T (p.Val378=) c.1146A>T (p.Val382=) n.929A>T (n.929A>T) n.811A>T c.1233A>T (p.Val411=) c.1245A>T (p.Val415=) | |
| 1 | g.114677988T>C | CA419883116 | AMPD1 | c.1134A>G (p.Val378=) c.1146A>G (p.Val382=) n.929A>G (n.929A>G) n.811A>G c.1233A>G (p.Val411=) c.1245A>G (p.Val415=) | |
| 1 | g.114677988T>G | CA419883117 | AMPD1 | c.1134A>C (p.Val378=) c.1146A>C (p.Val382=) n.929A>C (n.929A>C) n.811A>C c.1233A>C (p.Val411=) c.1245A>C (p.Val415=) | |
| 1 | g.114677989A= | CA1190276620 | AMPD1 | c.1133T= (p.Val378=) c.1145T= (p.Val382=) n.928T= (n.928T=) n.810T= c.1232T= (p.Val411=) c.1244T= (p.Val415=) | |
| 1 | g.114677989A>C | CA1020207 | AMPD1 | c.1133T>G (p.Val378Gly) c.1145T>G (p.Val382Gly) n.928T>G (n.928T>G) n.810T>G c.1232T>G (p.Val411Gly) c.1244T>G (p.Val415Gly) | dbSNP ExAC gnomAD |
| 1 | g.114677989A>G | CA341749114 | AMPD1 | c.1133T>C (p.Val378Ala) c.1145T>C (p.Val382Ala) n.928T>C (n.928T>C) n.810T>C c.1232T>C (p.Val411Ala) c.1244T>C (p.Val415Ala) | |
| 1 | g.114677989A>T | CA341749113 | AMPD1 | c.1133T>A (p.Val378Glu) c.1145T>A (p.Val382Glu) n.928T>A (n.928T>A) n.810T>A c.1232T>A (p.Val411Glu) c.1244T>A (p.Val415Glu) | |
| 1 | g.114677990C>A | CA341749115 | AMPD1 | c.1132G>T (p.Val378Leu) c.1144G>T (p.Val382Leu) n.927G>T (n.927G>T) n.809G>T c.1231G>T (p.Val411Leu) c.1243G>T (p.Val415Leu) | |
| 1 | g.114677990C>G | CA341749116 | AMPD1 | c.1132G>C (p.Val378Leu) c.1144G>C (p.Val382Leu) n.927G>C (n.927G>C) n.809G>C c.1231G>C (p.Val411Leu) c.1243G>C (p.Val415Leu) | |
| 1 | g.114677990C>T | CA341749117 | AMPD1 | c.1132G>A (p.Val378Ile) c.1144G>A (p.Val382Ile) n.927G>A (n.927G>A) n.809G>A c.1231G>A (p.Val411Ile) c.1243G>A (p.Val415Ile) | |
| 1 | g.114677991A= | CA1190276621 | AMPD1 | c.1131T= (p.Pro377=) c.1143T= (p.Pro381=) n.926T= (n.926T=) n.808T= c.1230T= (p.Pro410=) c.1242T= (p.Pro414=) | |
| 1 | g.114677991A>C | CA419883120 | AMPD1 | c.1131T>G (p.Pro377=) c.1143T>G (p.Pro381=) n.926T>G (n.926T>G) n.808T>G c.1230T>G (p.Pro410=) c.1242T>G (p.Pro414=) | |
| 1 | g.114677991A>G | CA419883119 | AMPD1 | c.1131T>C (p.Pro377=) c.1143T>C (p.Pro381=) n.926T>C (n.926T>C) n.808T>C c.1230T>C (p.Pro410=) c.1242T>C (p.Pro414=) | |
| 1 | g.114677991A>T | CA419883118 | AMPD1 | c.1131T>A (p.Pro377=) c.1143T>A (p.Pro381=) n.926T>A (n.926T>A) n.808T>A c.1230T>A (p.Pro410=) c.1242T>A (p.Pro414=) | |
| 1 | g.114677992G>A | CA29055384 | AMPD1 | c.1130C>T (p.Pro377Leu) c.1142C>T (p.Pro381Leu) n.925C>T (n.925C>T) n.807C>T c.1229C>T (p.Pro410Leu) c.1241C>T (p.Pro414Leu) | dbSNP gnomAD COSMIC COSMIC |
| 1 | g.114677992G>C | CA341749118 | AMPD1 | c.1130C>G (p.Pro377Arg) c.1142C>G (p.Pro381Arg) n.925C>G (n.925C>G) n.807C>G c.1229C>G (p.Pro410Arg) c.1241C>G (p.Pro414Arg) | |
| 1 | g.114677992G= | CA1146335914 | AMPD1 | c.1130C= (p.Pro377=) c.1142C= (p.Pro381=) n.925C= (n.925C=) n.807C= c.1229C= (p.Pro410=) c.1241C= (p.Pro414=) | |
| 1 | g.114677992G>T | CA341749119 | AMPD1 | c.1130C>A (p.Pro377His) c.1142C>A (p.Pro381His) n.925C>A (n.925C>A) n.807C>A c.1229C>A (p.Pro410His) c.1241C>A (p.Pro414His) | |
| 1 | g.114677993G>A | CA341749120 | AMPD1 | c.1129C>T (p.Pro377Ser) c.1141C>T (p.Pro381Ser) n.924C>T (n.924C>T) n.806C>T c.1228C>T (p.Pro410Ser) c.1240C>T (p.Pro414Ser) | |
| 1 | g.114677993G>C | CA341749121 | AMPD1 | c.1129C>G (p.Pro377Ala) c.1141C>G (p.Pro381Ala) n.924C>G (n.924C>G) n.806C>G c.1228C>G (p.Pro410Ala) c.1240C>G (p.Pro414Ala) | |
| 1 | g.114677993G= | CA1190276622 | AMPD1 | c.1129C= (p.Pro377=) c.1141C= (p.Pro381=) n.924C= (n.924C=) n.806C= c.1228C= (p.Pro410=) c.1240C= (p.Pro414=) | |
| 1 | g.114677993G>T | CA341749122 | AMPD1 | c.1129C>A (p.Pro377Thr) c.1141C>A (p.Pro381Thr) n.924C>A (n.924C>A) n.806C>A c.1228C>A (p.Pro410Thr) c.1240C>A (p.Pro414Thr) | |
| 1 | g.114677994A= | CA1143581691 | AMPD1 | c.1128T= (p.Asn376=) c.1140T= (p.Asn380=) n.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) n.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=) n.923T>C (n.923T>C) n.805T>C c.1227T>C (p.Asn409=) c.1239T>C (p.Asn413=) | dbSNP |
| 1 | g.114677994A>T | CA341749124 | AMPD1 | c.1128T>A (p.Asn376Lys) c.1140T>A (p.Asn380Lys) n.923T>A (n.923T>A) n.805T>A c.1227T>A (p.Asn409Lys) c.1239T>A (p.Asn413Lys) | |
| 1 | g.114677995T>A | CA341749127 | AMPD1 | c.1127A>T (p.Asn376Ile) c.1139A>T (p.Asn380Ile) n.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) n.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) n.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) n.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) n.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) n.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) n.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=) n.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) n.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) n.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) n.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) n.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) n.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) n.918T>C (n.918T>C) n.800T>C c.1222T>C (p.Tyr408His) c.1234T>C (p.Tyr412His) | |
| 1 | g.114677999A>T | CA341749138 | AMPD1 | c.1123T>A (p.Tyr375Asn) c.1135T>A (p.Tyr379Asn) n.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=) n.916_918delinsAAT (n.916_918delinsAAT) n.798_800delinsAAT c.1220_1222delinsAAT (p.Lys407=) c.1232_1234delinsAAT (p.Lys411=) |