| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114677983G>A | CA341749103 | AMPD1 | c.1139C>T (p.Ala380Val) c.1151C>T (p.Ala384Val) n.934C>T (n.934C>T) n.816C>T c.1238C>T (p.Ala413Val) c.1250C>T (p.Ala417Val) | |
| 1 | g.114677983G>C | CA341749104 | AMPD1 | c.1139C>G (p.Ala380Gly) c.1151C>G (p.Ala384Gly) n.934C>G (n.934C>G) n.816C>G c.1238C>G (p.Ala413Gly) c.1250C>G (p.Ala417Gly) | |
| 1 | g.114677983G= | CA1190276616 | AMPD1 | c.1139C= (p.Ala380=) c.1151C= (p.Ala384=) n.934C= (n.934C=) n.816C= c.1238C= (p.Ala413=) c.1250C= (p.Ala417=) | |
| 1 | g.114677983G>T | CA1020204 | AMPD1 | c.1139C>A (p.Ala380Glu) c.1151C>A (p.Ala384Glu) n.934C>A (n.934C>A) n.816C>A c.1238C>A (p.Ala413Glu) c.1250C>A (p.Ala417Glu) | dbSNP ExAC gnomAD COSMIC |
| 1 | g.114677984C>A | CA341749105 | AMPD1 | c.1138G>T (p.Ala380Ser) c.1150G>T (p.Ala384Ser) n.933G>T (n.933G>T) n.815G>T c.1237G>T (p.Ala413Ser) c.1249G>T (p.Ala417Ser) | |
| 1 | g.114677984C= | CA1190276617 | AMPD1 | c.1138G= (p.Ala380=) c.1150G= (p.Ala384=) n.933G= (n.933G=) n.815G= c.1237G= (p.Ala413=) c.1249G= (p.Ala417=) | |
| 1 | g.114677984C>G | CA341749106 | AMPD1 | c.1138G>C (p.Ala380Pro) c.1150G>C (p.Ala384Pro) n.933G>C (n.933G>C) n.815G>C c.1237G>C (p.Ala413Pro) c.1249G>C (p.Ala417Pro) | |
| 1 | g.114677984C>T | CA341749107 | AMPD1 | c.1138G>A (p.Ala380Thr) c.1150G>A (p.Ala384Thr) n.933G>A (n.933G>A) n.815G>A c.1237G>A (p.Ala413Thr) c.1249G>A (p.Ala417Thr) | gnomAD |
| 1 | g.114677985T>A | CA419883113 | AMPD1 | c.1137A>T (p.Gly379=) c.1149A>T (p.Gly383=) n.932A>T (n.932A>T) n.814A>T c.1236A>T (p.Gly412=) c.1248A>T (p.Gly416=) | |
| 1 | g.114677985T>C | CA1020205 | AMPD1 | c.1137A>G (p.Gly379=) c.1149A>G (p.Gly383=) n.932A>G (n.932A>G) n.814A>G c.1236A>G (p.Gly412=) c.1248A>G (p.Gly416=) | dbSNP ExAC gnomAD |
| 1 | g.114677985T>G | CA419883114 | AMPD1 | c.1137A>C (p.Gly379=) c.1149A>C (p.Gly383=) n.932A>C (n.932A>C) n.814A>C c.1236A>C (p.Gly412=) c.1248A>C (p.Gly416=) | |
| 1 | g.114677985T= | CA1148269336 | AMPD1 | c.1137A= (p.Gly379=) c.1149A= (p.Gly383=) n.932A= (n.932A=) n.814A= c.1236A= (p.Gly412=) c.1248A= (p.Gly416=) | |
| 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) |