| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114677976C>A | CA341749090 | AMPD1 | c.1146G>T (p.Glu382Asp) c.1158G>T (p.Glu386Asp) n.941G>T (n.941G>T) n.823G>T c.1245G>T (p.Glu415Asp) c.1257G>T (p.Glu419Asp) | |
| 1 | g.114677976C>G | CA341749089 | AMPD1 | c.1146G>C (p.Glu382Asp) c.1158G>C (p.Glu386Asp) n.941G>C (n.941G>C) n.823G>C c.1245G>C (p.Glu415Asp) c.1257G>C (p.Glu419Asp) | |
| 1 | g.114677976C>T | CA419883108 | AMPD1 | c.1146G>A (p.Glu382=) c.1158G>A (p.Glu386=) n.941G>A (n.941G>A) n.823G>A c.1245G>A (p.Glu415=) c.1257G>A (p.Glu419=) | |
| 1 | g.114677977T>A | CA341749091 | AMPD1 | c.1145A>T (p.Glu382Val) c.1157A>T (p.Glu386Val) n.940A>T (n.940A>T) n.822A>T c.1244A>T (p.Glu415Val) c.1256A>T (p.Glu419Val) | |
| 1 | g.114677977T>C | CA341749092 | AMPD1 | c.1145A>G (p.Glu382Gly) c.1157A>G (p.Glu386Gly) n.940A>G (n.940A>G) n.822A>G c.1244A>G (p.Glu415Gly) c.1256A>G (p.Glu419Gly) | |
| 1 | g.114677977T>G | CA341749093 | AMPD1 | c.1145A>C (p.Glu382Ala) c.1157A>C (p.Glu386Ala) n.940A>C (n.940A>C) n.822A>C c.1244A>C (p.Glu415Ala) c.1256A>C (p.Glu419Ala) | |
| 1 | g.114677978C>A | CA341749094 | AMPD1 | c.1144G>T (p.Glu382Ter) c.1156G>T (p.Glu386Ter) n.939G>T (n.939G>T) n.821G>T c.1243G>T (p.Glu415Ter) c.1255G>T (p.Glu419Ter) | |
| 1 | g.114677978C= | CA1190276615 | AMPD1 | c.1144G= (p.Glu382=) c.1156G= (p.Glu386=) n.939G= (n.939G=) n.821G= c.1243G= (p.Glu415=) c.1255G= (p.Glu419=) | |
| 1 | g.114677978C>G | CA341749095 | AMPD1 | c.1144G>C (p.Glu382Gln) c.1156G>C (p.Glu386Gln) n.939G>C (n.939G>C) n.821G>C c.1243G>C (p.Glu415Gln) c.1255G>C (p.Glu419Gln) | |
| 1 | g.114677978C>T | CA29055344 | AMPD1 | c.1144G>A (p.Glu382Lys) c.1156G>A (p.Glu386Lys) n.939G>A (n.939G>A) n.821G>A c.1243G>A (p.Glu415Lys) c.1255G>A (p.Glu419Lys) | dbSNP gnomAD |
| 1 | g.114677979A>C | CA341749096 | AMPD1 | c.1143T>G (p.Ser381Arg) c.1155T>G (p.Ser385Arg) n.938T>G (n.938T>G) n.820T>G c.1242T>G (p.Ser414Arg) c.1254T>G (p.Ser418Arg) | |
| 1 | g.114677979A>G | CA419883109 | AMPD1 | c.1143T>C (p.Ser381=) c.1155T>C (p.Ser385=) n.938T>C (n.938T>C) n.820T>C c.1242T>C (p.Ser414=) c.1254T>C (p.Ser418=) | |
| 1 | g.114677979A>T | CA341749097 | AMPD1 | c.1143T>A (p.Ser381Arg) c.1155T>A (p.Ser385Arg) n.938T>A (n.938T>A) n.820T>A c.1242T>A (p.Ser414Arg) c.1254T>A (p.Ser418Arg) | |
| 1 | g.114677980C>A | CA1020203 | AMPD1 | c.1142G>T (p.Ser381Ile) c.1154G>T (p.Ser385Ile) n.937G>T (n.937G>T) n.819G>T c.1241G>T (p.Ser414Ile) c.1253G>T (p.Ser418Ile) | dbSNP ExAC gnomAD |
| 1 | g.114677980C= | CA1146374834 | AMPD1 | c.1142G= (p.Ser381=) c.1154G= (p.Ser385=) n.937G= (n.937G=) n.819G= c.1241G= (p.Ser414=) c.1253G= (p.Ser418=) | |
| 1 | g.114677980C>G | CA341749098 | AMPD1 | c.1142G>C (p.Ser381Thr) c.1154G>C (p.Ser385Thr) n.937G>C (n.937G>C) n.819G>C c.1241G>C (p.Ser414Thr) c.1253G>C (p.Ser418Thr) | COSMIC COSMIC |
| 1 | g.114677980C>T | CA341749099 | AMPD1 | c.1142G>A (p.Ser381Asn) c.1154G>A (p.Ser385Asn) n.937G>A (n.937G>A) n.819G>A c.1241G>A (p.Ser414Asn) c.1253G>A (p.Ser418Asn) | |
| 1 | g.114677981T>A | CA341749101 | AMPD1 | c.1141A>T (p.Ser381Cys) c.1153A>T (p.Ser385Cys) n.936A>T (n.936A>T) n.818A>T c.1240A>T (p.Ser414Cys) c.1252A>T (p.Ser418Cys) | |
| 1 | g.114677981T>C | CA341749102 | AMPD1 | c.1141A>G (p.Ser381Gly) c.1153A>G (p.Ser385Gly) n.936A>G (n.936A>G) n.818A>G c.1240A>G (p.Ser414Gly) c.1252A>G (p.Ser418Gly) | |
| 1 | g.114677981T>G | CA341749100 | AMPD1 | c.1141A>C (p.Ser381Arg) c.1153A>C (p.Ser385Arg) n.936A>C (n.936A>C) n.818A>C c.1240A>C (p.Ser414Arg) c.1252A>C (p.Ser418Arg) | |
| 1 | g.114677982T>A | CA419883110 | AMPD1 | c.1140A>T (p.Ala380=) c.1152A>T (p.Ala384=) n.935A>T (n.935A>T) n.817A>T c.1239A>T (p.Ala413=) c.1251A>T (p.Ala417=) | |
| 1 | g.114677982T>C | CA419883111 | AMPD1 | c.1140A>G (p.Ala380=) c.1152A>G (p.Ala384=) n.935A>G (n.935A>G) n.817A>G c.1239A>G (p.Ala413=) c.1251A>G (p.Ala417=) | |
| 1 | g.114677982T>G | CA419883112 | AMPD1 | c.1140A>C (p.Ala380=) c.1152A>C (p.Ala384=) n.935A>C (n.935A>C) n.817A>C c.1239A>C (p.Ala413=) c.1251A>C (p.Ala417=) | |
| 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) |