| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.114677912T>A | CA341748948 | AMPD1 | c.1210A>T (p.Lys404Ter) c.1222A>T (p.Lys408Ter) c.1005A>T (n.1005A>T) n.887A>T c.1309A>T (p.Lys437Ter) c.1321A>T (p.Lys441Ter) | |
| 1 | g.114677912T>C | CA341748949 | AMPD1 | c.1210A>G (p.Lys404Glu) c.1222A>G (p.Lys408Glu) c.1005A>G (n.1005A>G) n.887A>G c.1309A>G (p.Lys437Glu) c.1321A>G (p.Lys441Glu) | |
| 1 | g.114677912T>G | CA341748950 | AMPD1 | c.1210A>C (p.Lys404Gln) c.1222A>C (p.Lys408Gln) c.1005A>C (n.1005A>C) n.887A>C c.1309A>C (p.Lys437Gln) c.1321A>C (p.Lys441Gln) | |
| 1 | g.114677913G>A | CA419883076 | AMPD1 | c.1209C>T (p.Ile403=) c.1221C>T (p.Ile407=) c.1004C>T (n.1004C>T) n.886C>T c.1308C>T (p.Ile436=) c.1320C>T (p.Ile440=) | |
| 1 | g.114677913G>C | CA1020188 | AMPD1 | c.1209C>G (p.Ile403Met) c.1221C>G (p.Ile407Met) c.1004C>G (n.1004C>G) n.886C>G c.1308C>G (p.Ile436Met) c.1320C>G (p.Ile440Met) | ClinVar dbSNP ExAC gnomAD |
| 1 | g.114677913G= | CA1141965129 | AMPD1 | c.1209C= (p.Ile403=) c.1221C= (p.Ile407=) c.1004C= (n.1004C=) n.886C= c.1308C= (p.Ile436=) c.1320C= (p.Ile440=) | |
| 1 | g.114677913G>T | CA419883077 | AMPD1 | c.1209C>A (p.Ile403=) c.1221C>A (p.Ile407=) c.1004C>A (n.1004C>A) n.886C>A c.1308C>A (p.Ile436=) c.1320C>A (p.Ile440=) | |
| 1 | g.114677914A= | CA1190276591 | AMPD1 | c.1208T= (p.Ile403=) c.1220T= (p.Ile407=) c.1003T= (n.1003T=) n.885T= c.1307T= (p.Ile436=) c.1319T= (p.Ile440=) | |
| 1 | g.114677914A>C | CA341748951 | AMPD1 | c.1208T>G (p.Ile403Ser) c.1220T>G (p.Ile407Ser) c.1003T>G (n.1003T>G) n.885T>G c.1307T>G (p.Ile436Ser) c.1319T>G (p.Ile440Ser) | |
| 1 | g.114677914A>G | CA29055257 | AMPD1 | c.1208T>C (p.Ile403Thr) c.1220T>C (p.Ile407Thr) c.1003T>C (n.1003T>C) n.885T>C c.1307T>C (p.Ile436Thr) c.1319T>C (p.Ile440Thr) | ClinVar dbSNP gnomAD |
| 1 | g.114677914A>T | CA341748952 | AMPD1 | c.1208T>A (p.Ile403Asn) c.1220T>A (p.Ile407Asn) c.1003T>A (n.1003T>A) n.885T>A c.1307T>A (p.Ile436Asn) c.1319T>A (p.Ile440Asn) | |
| 1 | g.114677915T>A | CA341748953 | AMPD1 | c.1207A>T (p.Ile403Phe) c.1219A>T (p.Ile407Phe) c.1002A>T (n.1002A>T) n.884A>T c.1306A>T (p.Ile436Phe) c.1318A>T (p.Ile440Phe) | |
| 1 | g.114677915T>C | CA341748954 | AMPD1 | c.1207A>G (p.Ile403Val) c.1219A>G (p.Ile407Val) c.1002A>G (n.1002A>G) n.884A>G c.1306A>G (p.Ile436Val) c.1318A>G (p.Ile440Val) | |
| 1 | g.114677915T>G | CA341748955 | AMPD1 | c.1207A>C (p.Ile403Leu) c.1219A>C (p.Ile407Leu) c.1002A>C (n.1002A>C) n.884A>C c.1306A>C (p.Ile436Leu) c.1318A>C (p.Ile440Leu) | |
| 1 | g.114677915T= | CA1190276592 | AMPD1 | c.1207A= (p.Ile403=) c.1219A= (p.Ile407=) c.1002A= (n.1002A=) n.884A= c.1306A= (p.Ile436=) c.1318A= (p.Ile440=) | |
| 1 | g.114677916G>A | CA419883078 | AMPD1 | c.1206C>T (p.Ile402=) c.1218C>T (p.Ile406=) c.1001C>T (n.1001C>T) n.883C>T c.1305C>T (p.Ile435=) c.1317C>T (p.Ile439=) | |
| 1 | g.114677916G>C | CA341748956 | AMPD1 | c.1206C>G (p.Ile402Met) c.1218C>G (p.Ile406Met) c.1001C>G (n.1001C>G) n.883C>G c.1305C>G (p.Ile435Met) c.1317C>G (p.Ile439Met) | |
| 1 | g.114677916G>T | CA419883079 | AMPD1 | c.1206C>A (p.Ile402=) c.1218C>A (p.Ile406=) c.1001C>A (n.1001C>A) n.883C>A c.1305C>A (p.Ile435=) c.1317C>A (p.Ile439=) | |
| 1 | g.114677917A= | CA1145430801 | AMPD1 | c.1205T= (p.Ile402=) c.1217T= (p.Ile406=) c.1000T= (n.1000T=) n.882T= c.1304T= (p.Ile435=) c.1316T= (p.Ile439=) | |
| 1 | g.114677917A>C | CA341748958 | AMPD1 | c.1205T>G (p.Ile402Ser) c.1217T>G (p.Ile406Ser) c.1000T>G (n.1000T>G) n.882T>G c.1304T>G (p.Ile435Ser) c.1316T>G (p.Ile439Ser) | |
| 1 | g.114677917A>G | CA1020189 | AMPD1 | c.1205T>C (p.Ile402Thr) c.1217T>C (p.Ile406Thr) c.1000T>C (n.1000T>C) n.882T>C c.1304T>C (p.Ile435Thr) c.1316T>C (p.Ile439Thr) | dbSNP ExAC gnomAD |
| 1 | g.114677917A>T | CA341748957 | AMPD1 | c.1205T>A (p.Ile402Asn) c.1217T>A (p.Ile406Asn) c.1000T>A (n.1000T>A) n.882T>A c.1304T>A (p.Ile435Asn) c.1316T>A (p.Ile439Asn) | |
| 1 | g.114677918T>A | CA341748959 | AMPD1 | c.1204A>T (p.Ile402Phe) c.1216A>T (p.Ile406Phe) c.999A>T (n.999A>T) n.881A>T c.1303A>T (p.Ile435Phe) c.1315A>T (p.Ile439Phe) | |
| 1 | g.114677918T>C | CA341748960 | AMPD1 | c.1204A>G (p.Ile402Val) c.1216A>G (p.Ile406Val) c.999A>G (n.999A>G) n.881A>G c.1303A>G (p.Ile435Val) c.1315A>G (p.Ile439Val) | COSMIC COSMIC |
| 1 | g.114677918T>G | CA341748961 | AMPD1 | c.1204A>C (p.Ile402Leu) c.1216A>C (p.Ile406Leu) c.999A>C (n.999A>C) n.881A>C c.1303A>C (p.Ile435Leu) c.1315A>C (p.Ile439Leu) | |
| 1 | g.114677918T= | CA1190276593 | AMPD1 | c.1204A= (p.Ile402=) c.1216A= (p.Ile406=) c.999A= (n.999A=) n.881A= c.1303A= (p.Ile435=) c.1315A= (p.Ile439=) | |
| 1 | g.114677919A>C | CA419883080 | AMPD1 | c.1203T>G (p.Thr401=) c.1215T>G (p.Thr405=) c.998T>G (n.998T>G) n.880T>G c.1302T>G (p.Thr434=) c.1314T>G (p.Thr438=) | |
| 1 | g.114677919A>G | CA419883081 | AMPD1 | c.1203T>C (p.Thr401=) c.1215T>C (p.Thr405=) c.998T>C (n.998T>C) n.880T>C c.1302T>C (p.Thr434=) c.1314T>C (p.Thr438=) | |
| 1 | g.114677919A>T | CA419883082 | AMPD1 | c.1203T>A (p.Thr401=) c.1215T>A (p.Thr405=) c.998T>A (n.998T>A) n.880T>A c.1302T>A (p.Thr434=) c.1314T>A (p.Thr438=) | |
| 1 | g.114677920G>A | CA1020190 | AMPD1 | c.1202C>T (p.Thr401Ile) c.1214C>T (p.Thr405Ile) c.997C>T (n.997C>T) n.879C>T c.1301C>T (p.Thr434Ile) c.1313C>T (p.Thr438Ile) | dbSNP ExAC gnomAD |
| 1 | g.114677920G>C | CA341748962 | AMPD1 | c.1202C>G (p.Thr401Ser) c.1214C>G (p.Thr405Ser) c.997C>G (n.997C>G) n.879C>G c.1301C>G (p.Thr434Ser) c.1313C>G (p.Thr438Ser) | |
| 1 | g.114677920G= | CA1190276594 | AMPD1 | c.1202C= (p.Thr401=) c.1214C= (p.Thr405=) c.997C= (n.997C=) n.879C= c.1301C= (p.Thr434=) c.1313C= (p.Thr438=) | |
| 1 | g.114677920G>T | CA341748963 | AMPD1 | c.1202C>A (p.Thr401Asn) c.1214C>A (p.Thr405Asn) c.997C>A (n.997C>A) n.879C>A c.1301C>A (p.Thr434Asn) c.1313C>A (p.Thr438Asn) | |
| 1 | g.114677921T>A | CA341748964 | AMPD1 | c.1201A>T (p.Thr401Ser) c.1213A>T (p.Thr405Ser) c.996A>T (n.996A>T) n.878A>T c.1300A>T (p.Thr434Ser) c.1312A>T (p.Thr438Ser) | |
| 1 | g.114677921T>C | CA341748965 | AMPD1 | c.1201A>G (p.Thr401Ala) c.1213A>G (p.Thr405Ala) c.996A>G (n.996A>G) n.878A>G c.1300A>G (p.Thr434Ala) c.1312A>G (p.Thr438Ala) | COSMIC COSMIC |
| 1 | g.114677921T>G | CA341748966 | AMPD1 | c.1201A>C (p.Thr401Pro) c.1213A>C (p.Thr405Pro) c.996A>C (n.996A>C) n.878A>C c.1300A>C (p.Thr434Pro) c.1312A>C (p.Thr438Pro) | |
| 1 | g.114677922G>A | CA1020191 | AMPD1 | c.1200C>T (p.Ala400=) c.1212C>T (p.Ala404=) c.995C>T (n.995C>T) n.877C>T c.1299C>T (p.Ala433=) c.1311C>T (p.Ala437=) | dbSNP ExAC gnomAD |
| 1 | g.114677922G>C | CA419883084 | AMPD1 | c.1200C>G (p.Ala400=) c.1212C>G (p.Ala404=) c.995C>G (n.995C>G) n.877C>G c.1299C>G (p.Ala433=) c.1311C>G (p.Ala437=) | |
| 1 | g.114677922G= | CA1190276595 | AMPD1 | c.1200C= (p.Ala400=) c.1212C= (p.Ala404=) c.995C= (n.995C=) n.877C= c.1299C= (p.Ala433=) c.1311C= (p.Ala437=) | |
| 1 | g.114677922G>T | CA419883083 | AMPD1 | c.1200C>A (p.Ala400=) c.1212C>A (p.Ala404=) c.995C>A (n.995C>A) n.877C>A c.1299C>A (p.Ala433=) c.1311C>A (p.Ala437=) | |
| 1 | g.114677923G>A | CA341748967 | AMPD1 | c.1199C>T (p.Ala400Val) c.1211C>T (p.Ala404Val) c.994C>T (n.994C>T) n.876C>T c.1298C>T (p.Ala433Val) c.1310C>T (p.Ala437Val) | |
| 1 | g.114677923G>C | CA341748968 | AMPD1 | c.1199C>G (p.Ala400Gly) c.1211C>G (p.Ala404Gly) c.994C>G (n.994C>G) n.876C>G c.1298C>G (p.Ala433Gly) c.1310C>G (p.Ala437Gly) | |
| 1 | g.114677923G>T | CA341748969 | AMPD1 | c.1199C>A (p.Ala400Asp) c.1211C>A (p.Ala404Asp) c.994C>A (n.994C>A) n.876C>A c.1298C>A (p.Ala433Asp) c.1310C>A (p.Ala437Asp) | |
| 1 | g.114677924C>A | CA341748971 | AMPD1 | c.1198G>T (p.Ala400Ser) c.1210G>T (p.Ala404Ser) c.993G>T (n.993G>T) n.875G>T c.1297G>T (p.Ala433Ser) c.1309G>T (p.Ala437Ser) | |
| 1 | g.114677924C= | CA1190276596 | AMPD1 | c.1198G= (p.Ala400=) c.1210G= (p.Ala404=) c.993G= (n.993G=) n.875G= c.1297G= (p.Ala433=) c.1309G= (p.Ala437=) | |
| 1 | g.114677924C>G | CA341748970 | AMPD1 | c.1198G>C (p.Ala400Pro) c.1210G>C (p.Ala404Pro) c.993G>C (n.993G>C) n.875G>C c.1297G>C (p.Ala433Pro) c.1309G>C (p.Ala437Pro) | ClinVar gnomAD |
| 1 | g.114677924C>T | CA1020192 | AMPD1 | c.1198G>A (p.Ala400Thr) c.1210G>A (p.Ala404Thr) c.993G>A (n.993G>A) n.875G>A c.1297G>A (p.Ala433Thr) c.1309G>A (p.Ala437Thr) | dbSNP ExAC gnomAD |
| 1 | g.114677925A= | CA1190276597 | AMPD1 | c.1197T= (p.Phe399=) c.1209T= (p.Phe403=) c.992T= (n.992T=) n.874T= c.1296T= (p.Phe432=) c.1308T= (p.Phe436=) | |
| 1 | g.114677925A>C | CA341748972 | AMPD1 | c.1197T>G (p.Phe399Leu) c.1209T>G (p.Phe403Leu) c.992T>G (n.992T>G) n.874T>G c.1296T>G (p.Phe432Leu) c.1308T>G (p.Phe436Leu) | |
| 1 | g.114677925A>G | CA419883085 | AMPD1 | c.1197T>C (p.Phe399=) c.1209T>C (p.Phe403=) c.992T>C (n.992T>C) n.874T>C c.1296T>C (p.Phe432=) c.1308T>C (p.Phe436=) | gnomAD |