Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.54814725C>A | CA413274132 | MAGED2 | c.1336C>A (p.Arg446Ser) c.1282C>A (p.Arg428Ser) c.1081C>A (p.Arg361Ser) | |
X | g.54814725C= | CA2430312970 | MAGED2 | c.1336C= (p.Arg446=) c.1282C= (p.Arg428=) c.1081C= (p.Arg361=) | |
X | g.54814725C>G | CA413274134 | MAGED2 | c.1336C>G (p.Arg446Gly) c.1282C>G (p.Arg428Gly) c.1081C>G (p.Arg361Gly) | |
X | g.54814725C>T | CA10576212 | MAGED2 | c.1336C>T (p.Arg446Cys) c.1282C>T (p.Arg428Cys) c.1081C>T (p.Arg361Cys) | ClinVar dbSNP gnomAD v4 |
X | g.54814726G>A | CA413274137 | MAGED2 | c.1337G>A (p.Arg446His) c.1283G>A (p.Arg428His) c.1082G>A (p.Arg361His) | gnomAD v4 |
X | g.54814726G>C | CA413274138 | MAGED2 | c.1337G>C (p.Arg446Pro) c.1283G>C (p.Arg428Pro) c.1082G>C (p.Arg361Pro) | |
X | g.54814726G>T | CA413274140 | MAGED2 | c.1337G>T (p.Arg446Leu) c.1283G>T (p.Arg428Leu) c.1082G>T (p.Arg361Leu) | |
X | g.54814727C>A | CA516582516 | MAGED2 | c.1338C>A (p.Arg446=) c.1284C>A (p.Arg428=) c.1083C>A (p.Arg361=) | |
X | g.54814727C= | CA2430312971 | MAGED2 | c.1338C= (p.Arg446=) c.1284C= (p.Arg428=) c.1083C= (p.Arg361=) | |
X | g.54814727C>G | CA516582517 | MAGED2 | c.1338C>G (p.Arg446=) c.1284C>G (p.Arg428=) c.1083C>G (p.Arg361=) | |
X | g.54814727C>T | CA516582518 | MAGED2 | c.1338C>T (p.Arg446=) c.1284C>T (p.Arg428=) c.1083C>T (p.Arg361=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54814728T>A | CA413274142 | MAGED2 | c.1339T>A (p.Ser447Thr) c.1285T>A (p.Ser429Thr) c.1084T>A (p.Ser362Thr) | |
X | g.54814728T>C | CA413274144 | MAGED2 | c.1339T>C (p.Ser447Pro) c.1285T>C (p.Ser429Pro) c.1084T>C (p.Ser362Pro) | |
X | g.54814728T>G | CA413274146 | MAGED2 | c.1339T>G (p.Ser447Ala) c.1285T>G (p.Ser429Ala) c.1084T>G (p.Ser362Ala) | |
X | g.54814729C>A | CA413274148 | MAGED2 | c.1340C>A (p.Ser447Tyr) c.1286C>A (p.Ser429Tyr) c.1085C>A (p.Ser362Tyr) | |
X | g.54814729C>G | CA413274150 | MAGED2 | c.1340C>G (p.Ser447Cys) c.1286C>G (p.Ser429Cys) c.1085C>G (p.Ser362Cys) | |
X | g.54814729C>T | CA413274151 | MAGED2 | c.1340C>T (p.Ser447Phe) c.1286C>T (p.Ser429Phe) c.1085C>T (p.Ser362Phe) | gnomAD v4 |
X | g.54814730T>A | CA516582524 | MAGED2 | c.1341T>A (p.Ser447=) c.1287T>A (p.Ser429=) c.1086T>A (p.Ser362=) | |
X | g.54814730T>C | CA516582523 | MAGED2 | c.1341T>C (p.Ser447=) c.1287T>C (p.Ser429=) c.1086T>C (p.Ser362=) | |
X | g.54814730T>G | CA516582522 | MAGED2 | c.1341T>G (p.Ser447=) c.1287T>G (p.Ser429=) c.1086T>G (p.Ser362=) | |
X | g.54814731T>A | CA413274157 | MAGED2 | c.1342T>A (p.Tyr448Asn) c.1288T>A (p.Tyr430Asn) c.1087T>A (p.Tyr363Asn) | |
X | g.54814731T>C | CA413274156 | MAGED2 | c.1342T>C (p.Tyr448His) c.1288T>C (p.Tyr430His) c.1087T>C (p.Tyr363His) | |
X | g.54814731T>G | CA413274154 | MAGED2 | c.1342T>G (p.Tyr448Asp) c.1288T>G (p.Tyr430Asp) c.1087T>G (p.Tyr363Asp) | |
X | g.54814732A= | CA2430312972 | MAGED2 | c.1343A= (p.Tyr448=) c.1289A= (p.Tyr430=) c.1088A= (p.Tyr363=) | |
X | g.54814732A>C | CA413274159 | MAGED2 | c.1343A>C (p.Tyr448Ser) c.1289A>C (p.Tyr430Ser) c.1088A>C (p.Tyr363Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.54814732A>G | CA413274161 | MAGED2 | c.1343A>G (p.Tyr448Cys) c.1289A>G (p.Tyr430Cys) c.1088A>G (p.Tyr363Cys) | |
X | g.54814732A>T | CA413274160 | MAGED2 | c.1343A>T (p.Tyr448Phe) c.1289A>T (p.Tyr430Phe) c.1088A>T (p.Tyr363Phe) | |
X | g.54814733C>A | CA413274162 | MAGED2 | c.1344C>A (p.Tyr448Ter) c.1290C>A (p.Tyr430Ter) c.1089C>A (p.Tyr363Ter) | COSMIC |
X | g.54814733C>G | CA413274164 | MAGED2 | c.1344C>G (p.Tyr448Ter) c.1290C>G (p.Tyr430Ter) c.1089C>G (p.Tyr363Ter) | |
X | g.54814733C>T | CA516582529 | MAGED2 | c.1344C>T (p.Tyr448=) c.1290C>T (p.Tyr430=) c.1089C>T (p.Tyr363=) | |
X | g.54814734T>A | CA413274167 | MAGED2 | c.1345T>A (p.Tyr449Asn) c.1291T>A (p.Tyr431Asn) c.1090T>A (p.Tyr364Asn) | |
X | g.54814734T>C | CA413274168 | MAGED2 | c.1345T>C (p.Tyr449His) c.1291T>C (p.Tyr431His) c.1090T>C (p.Tyr364His) | |
X | g.54814734T>G | CA413274170 | MAGED2 | c.1345T>G (p.Tyr449Asp) c.1291T>G (p.Tyr431Asp) c.1090T>G (p.Tyr364Asp) | |
X | g.54814735A= | CA2430312973 | MAGED2 | c.1346A= (p.Tyr449=) c.1292A= (p.Tyr431=) c.1091A= (p.Tyr364=) | |
X | g.54814735A>C | CA413274172 | MAGED2 | c.1346A>C (p.Tyr449Ser) c.1292A>C (p.Tyr431Ser) c.1091A>C (p.Tyr364Ser) | |
X | g.54814735A>G | CA10426877 | MAGED2 | c.1346A>G (p.Tyr449Cys) c.1292A>G (p.Tyr431Cys) c.1091A>G (p.Tyr364Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.54814735A>T | CA413274174 | MAGED2 | c.1346A>T (p.Tyr449Phe) c.1292A>T (p.Tyr431Phe) c.1091A>T (p.Tyr364Phe) | |
X | g.54814736T>A | CA413274176 | MAGED2 | c.1347T>A (p.Tyr449Ter) c.1293T>A (p.Tyr431Ter) c.1092T>A (p.Tyr364Ter) | |
X | g.54814736T>C | CA516582533 | MAGED2 | c.1347T>C (p.Tyr449=) c.1293T>C (p.Tyr431=) c.1092T>C (p.Tyr364=) | |
X | g.54814736T>G | CA413274178 | MAGED2 | c.1347T>G (p.Tyr449Ter) c.1293T>G (p.Tyr431Ter) c.1092T>G (p.Tyr364Ter) | |
X | g.54814737G>A | CA413274180 | MAGED2 | c.1348G>A (p.Glu450Lys) c.1294G>A (p.Glu432Lys) c.1093G>A (p.Glu365Lys) | COSMIC |
X | g.54814737G>C | CA413274181 | MAGED2 | c.1348G>C (p.Glu450Gln) c.1294G>C (p.Glu432Gln) c.1093G>C (p.Glu365Gln) | |
X | g.54814737G>T | CA413274183 | MAGED2 | c.1348G>T (p.Glu450Ter) c.1294G>T (p.Glu432Ter) c.1093G>T (p.Glu365Ter) | |
X | g.54814739_54814740del | CA2579623084 | MAGED2 | c.1350_1351del (p.Glu450AspfsTer?) c.1296_1297del (p.Glu432AspfsTer?) c.1095_1096del (p.Glu365AspfsTer?) | |
X | g.54814738A>C | CA413274189 | MAGED2 | c.1349A>C (p.Glu450Ala) c.1295A>C (p.Glu432Ala) c.1094A>C (p.Glu365Ala) | |
X | g.54814738A>G | CA413274185 | MAGED2 | c.1349A>G (p.Glu450Gly) c.1295A>G (p.Glu432Gly) c.1094A>G (p.Glu365Gly) | |
X | g.54814738A>T | CA413274187 | MAGED2 | c.1349A>T (p.Glu450Val) c.1295A>T (p.Glu432Val) c.1094A>T (p.Glu365Val) | |
X | g.54814739G>A | CA516582534 | MAGED2 | c.1350G>A (p.Glu450=) c.1296G>A (p.Glu432=) c.1095G>A (p.Glu365=) | |
X | g.54814739G>C | CA413274191 | MAGED2 | c.1350G>C (p.Glu450Asp) c.1296G>C (p.Glu432Asp) c.1095G>C (p.Glu365Asp) | |
X | g.54814739G>T | CA413274193 | MAGED2 | c.1350G>T (p.Glu450Asp) c.1296G>T (p.Glu432Asp) c.1095G>T (p.Glu365Asp) | COSMIC |