Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.211702007C>A | CA350442247 | ERBB4 | c.1449G>T (p.Gln483His) c.1371G>T (p.Gln457His) c.1448G>T c.1272G>T (p.Gln424His) n.1501G>T c.1527G>T (p.Gln509His) c.828G>T (p.Gln276His) | |
2 | g.211702007C>G | CA350442248 | ERBB4 | c.1449G>C (p.Gln483His) c.1371G>C (p.Gln457His) c.1448G>C c.1272G>C (p.Gln424His) n.1501G>C c.1527G>C (p.Gln509His) c.828G>C (p.Gln276His) | dbSNP |
2 | g.211702007C>T | CA431130618 | ERBB4 | c.1449G>A (p.Gln483=) c.1371G>A (p.Gln457=) c.1448G>A c.1272G>A (p.Gln424=) n.1501G>A c.1527G>A (p.Gln509=) c.828G>A (p.Gln276=) | dbSNP |
2 | g.211702008T>A | CA350442249 | ERBB4 | c.1448A>T (p.Gln483Leu) c.1370A>T (p.Gln457Leu) c.1447A>T c.1271A>T (p.Gln424Leu) n.1500A>T c.1526A>T (p.Gln509Leu) c.827A>T (p.Gln276Leu) | |
2 | g.211702008T>C | CA350442250 | ERBB4 | c.1448A>G (p.Gln483Arg) c.1370A>G (p.Gln457Arg) c.1447A>G c.1271A>G (p.Gln424Arg) n.1500A>G c.1526A>G (p.Gln509Arg) c.827A>G (p.Gln276Arg) | gnomAD v4 |
2 | g.211702008T>G | CA350442251 | ERBB4 | c.1448A>C (p.Gln483Pro) c.1370A>C (p.Gln457Pro) c.1447A>C c.1271A>C (p.Gln424Pro) n.1500A>C c.1526A>C (p.Gln509Pro) c.827A>C (p.Gln276Pro) | |
2 | g.211702009G>A | CA350442252 | ERBB4 | c.1447C>T (p.Gln483Ter) c.1369C>T (p.Gln457Ter) c.1446C>T c.1270C>T (p.Gln424Ter) n.1499C>T c.1525C>T (p.Gln509Ter) c.826C>T (p.Gln276Ter) | |
2 | g.211702009G>C | CA350442253 | ERBB4 | c.1447C>G (p.Gln483Glu) c.1369C>G (p.Gln457Glu) c.1446C>G c.1270C>G (p.Gln424Glu) n.1499C>G c.1525C>G (p.Gln509Glu) c.826C>G (p.Gln276Glu) | dbSNP COSMIC |
2 | g.211702009G>T | CA350442254 | ERBB4 | c.1447C>A (p.Gln483Lys) c.1369C>A (p.Gln457Lys) c.1446C>A c.1270C>A (p.Gln424Lys) n.1499C>A c.1525C>A (p.Gln509Lys) c.826C>A (p.Gln276Lys) | dbSNP |
2 | g.211702010del | CA2701479974 | ERBB4 | c.1447del (p.Gln483ArgfsTer3) c.1369del (p.Gln457ArgfsTer3) c.1446del c.1270del (p.Gln424ArgfsTer3) n.1499del c.1525del (p.Gln509ArgfsTer3) c.826del (p.Gln276ArgfsTer3) | dbSNP |
2 | g.211702010G>A | CA64751872 | ERBB4 | c.1446C>T (p.Asn482=) c.1368C>T (p.Asn456=) c.1445C>T c.1269C>T (p.Asn423=) n.1498C>T c.1524C>T (p.Asn508=) c.825C>T (p.Asn275=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.211702010G>C | CA350442255 | ERBB4 | c.1446C>G (p.Asn482Lys) c.1368C>G (p.Asn456Lys) c.1445C>G c.1269C>G (p.Asn423Lys) n.1498C>G c.1524C>G (p.Asn508Lys) c.825C>G (p.Asn275Lys) | dbSNP |
2 | g.211702010G= | CA1325614760 | ERBB4 | c.1446C= (p.Asn482=) c.1368C= (p.Asn456=) c.1445C= c.1269C= (p.Asn423=) n.1498C= c.1524C= (p.Asn508=) c.825C= (p.Asn275=) | |
2 | g.211702010G>T | CA350442256 | ERBB4 | c.1446C>A (p.Asn482Lys) c.1368C>A (p.Asn456Lys) c.1445C>A c.1269C>A (p.Asn423Lys) n.1498C>A c.1524C>A (p.Asn508Lys) c.825C>A (p.Asn275Lys) | dbSNP |
2 | g.211702011T>A | CA350442257 | ERBB4 | c.1445A>T (p.Asn482Ile) c.1367A>T (p.Asn456Ile) c.1444A>T c.1268A>T (p.Asn423Ile) n.1497A>T c.1523A>T (p.Asn508Ile) c.824A>T (p.Asn275Ile) | dbSNP |
2 | g.211702011T>C | CA2088132 | ERBB4 | c.1445A>G (p.Asn482Ser) c.1367A>G (p.Asn456Ser) c.1444A>G c.1268A>G (p.Asn423Ser) n.1497A>G c.1523A>G (p.Asn508Ser) c.824A>G (p.Asn275Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.211702011T>G | CA350442258 | ERBB4 | c.1445A>C (p.Asn482Thr) c.1367A>C (p.Asn456Thr) c.1444A>C c.1268A>C (p.Asn423Thr) n.1497A>C c.1523A>C (p.Asn508Thr) c.824A>C (p.Asn275Thr) | |
2 | g.211702011T= | CA1325614761 | ERBB4 | c.1445A= (p.Asn482=) c.1367A= (p.Asn456=) c.1444A= c.1268A= (p.Asn423=) n.1497A= c.1523A= (p.Asn508=) c.824A= (p.Asn275=) | |
2 | g.211702012T>A | CA350442261 | ERBB4 | c.1444A>T (p.Asn482Tyr) c.1366A>T (p.Asn456Tyr) c.1443A>T c.1267A>T (p.Asn423Tyr) n.1496A>T c.1522A>T (p.Asn508Tyr) c.823A>T (p.Asn275Tyr) | |
2 | g.211702012T>C | CA350442259 | ERBB4 | c.1444A>G (p.Asn482Asp) c.1366A>G (p.Asn456Asp) c.1443A>G c.1267A>G (p.Asn423Asp) n.1496A>G c.1522A>G (p.Asn508Asp) c.823A>G (p.Asn275Asp) | |
2 | g.211702012T>G | CA350442260 | ERBB4 | c.1444A>C (p.Asn482His) c.1366A>C (p.Asn456His) c.1443A>C c.1267A>C (p.Asn423His) n.1496A>C c.1522A>C (p.Asn508His) c.823A>C (p.Asn275His) | |
2 | g.211702013G>A | CA431130653 | ERBB4 | c.1443C>T (p.Ile481=) c.1365C>T (p.Ile455=) c.1442C>T c.1266C>T (p.Ile422=) n.1495C>T c.1521C>T (p.Ile507=) c.822C>T (p.Ile274=) | |
2 | g.211702013G>C | CA350442262 | ERBB4 | c.1443C>G (p.Ile481Met) c.1365C>G (p.Ile455Met) c.1442C>G c.1266C>G (p.Ile422Met) n.1495C>G c.1521C>G (p.Ile507Met) c.822C>G (p.Ile274Met) | dbSNP |
2 | g.211702013G>T | CA431130654 | ERBB4 | c.1443C>A (p.Ile481=) c.1365C>A (p.Ile455=) c.1442C>A c.1266C>A (p.Ile422=) n.1495C>A c.1521C>A (p.Ile507=) c.822C>A (p.Ile274=) | |
2 | g.211702014A>C | CA350442263 | ERBB4 | c.1442T>G (p.Ile481Ser) c.1364T>G (p.Ile455Ser) c.1441T>G c.1265T>G (p.Ile422Ser) n.1494T>G c.1520T>G (p.Ile507Ser) c.821T>G (p.Ile274Ser) | |
2 | g.211702014A>G | CA350442264 | ERBB4 | c.1442T>C (p.Ile481Thr) c.1364T>C (p.Ile455Thr) c.1441T>C c.1265T>C (p.Ile422Thr) n.1494T>C c.1520T>C (p.Ile507Thr) c.821T>C (p.Ile274Thr) | |
2 | g.211702014A>T | CA350442265 | ERBB4 | c.1442T>A (p.Ile481Asn) c.1364T>A (p.Ile455Asn) c.1441T>A c.1265T>A (p.Ile422Asn) n.1494T>A c.1520T>A (p.Ile507Asn) c.821T>A (p.Ile274Asn) | dbSNP |
2 | g.211702015T>A | CA350442266 | ERBB4 | c.1441A>T (p.Ile481Phe) c.1363A>T (p.Ile455Phe) c.1440A>T c.1264A>T (p.Ile422Phe) n.1493A>T c.1519A>T (p.Ile507Phe) c.820A>T (p.Ile274Phe) | |
2 | g.211702015T>C | CA2088133 | ERBB4 | c.1441A>G (p.Ile481Val) c.1363A>G (p.Ile455Val) c.1440A>G c.1264A>G (p.Ile422Val) n.1493A>G c.1519A>G (p.Ile507Val) c.820A>G (p.Ile274Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.211702015T>G | CA350442267 | ERBB4 | c.1441A>C (p.Ile481Leu) c.1363A>C (p.Ile455Leu) c.1440A>C c.1264A>C (p.Ile422Leu) n.1493A>C c.1519A>C (p.Ile507Leu) c.820A>C (p.Ile274Leu) | dbSNP |
2 | g.211702015T= | CA1325614762 | ERBB4 | c.1441A= (p.Ile481=) c.1363A= (p.Ile455=) c.1440A= c.1264A= (p.Ile422=) n.1493A= c.1519A= (p.Ile507=) c.820A= (p.Ile274=) | |
2 | g.211702016T>A | CA431130684 | ERBB4 | c.1440A>T (p.Thr480=) c.1362A>T (p.Thr454=) c.1439A>T c.1263A>T (p.Thr421=) n.1492A>T c.1518A>T (p.Thr506=) c.819A>T (p.Thr273=) | COSMIC |
2 | g.211702016T>C | CA431130685 | ERBB4 | c.1440A>G (p.Thr480=) c.1362A>G (p.Thr454=) c.1439A>G c.1263A>G (p.Thr421=) n.1492A>G c.1518A>G (p.Thr506=) c.819A>G (p.Thr273=) | gnomAD v4 |
2 | g.211702016T>G | CA431130687 | ERBB4 | c.1440A>C (p.Thr480=) c.1362A>C (p.Thr454=) c.1439A>C c.1263A>C (p.Thr421=) n.1492A>C c.1518A>C (p.Thr506=) c.819A>C (p.Thr273=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.211702016T= | CA1325614763 | ERBB4 | c.1440A= (p.Thr480=) c.1362A= (p.Thr454=) c.1439A= c.1263A= (p.Thr421=) n.1492A= c.1518A= (p.Thr506=) c.819A= (p.Thr273=) | |
2 | g.211702017G>A | CA350442268 | ERBB4 | c.1439C>T (p.Thr480Ile) c.1361C>T (p.Thr454Ile) c.1438C>T c.1262C>T (p.Thr421Ile) n.1491C>T c.1517C>T (p.Thr506Ile) c.818C>T (p.Thr273Ile) | dbSNP gnomAD v4 |
2 | g.211702017G>C | CA350442269 | ERBB4 | c.1439C>G (p.Thr480Arg) c.1361C>G (p.Thr454Arg) c.1438C>G c.1262C>G (p.Thr421Arg) n.1491C>G c.1517C>G (p.Thr506Arg) c.818C>G (p.Thr273Arg) | dbSNP |
2 | g.211702017G>T | CA350442270 | ERBB4 | c.1439C>A (p.Thr480Lys) c.1361C>A (p.Thr454Lys) c.1438C>A c.1262C>A (p.Thr421Lys) n.1491C>A c.1517C>A (p.Thr506Lys) c.818C>A (p.Thr273Lys) | |
2 | g.211702018T>A | CA350442271 | ERBB4 | c.1438A>T (p.Thr480Ser) c.1360A>T (p.Thr454Ser) c.1437A>T c.1261A>T (p.Thr421Ser) n.1490A>T c.1516A>T (p.Thr506Ser) c.817A>T (p.Thr273Ser) | dbSNP gnomAD v4 |
2 | g.211702018T>C | CA350442272 | ERBB4 | c.1438A>G (p.Thr480Ala) c.1360A>G (p.Thr454Ala) c.1437A>G c.1261A>G (p.Thr421Ala) n.1490A>G c.1516A>G (p.Thr506Ala) c.817A>G (p.Thr273Ala) | |
2 | g.211702018T>G | CA350442273 | ERBB4 | c.1438A>C (p.Thr480Pro) c.1360A>C (p.Thr454Pro) c.1437A>C c.1261A>C (p.Thr421Pro) n.1490A>C c.1516A>C (p.Thr506Pro) c.817A>C (p.Thr273Pro) | dbSNP |
2 | g.211702019G>A | CA431130702 | ERBB4 | c.1437C>T (p.Ser479=) c.1359C>T (p.Ser453=) c.1436C>T c.1260C>T (p.Ser420=) n.1489C>T c.1515C>T (p.Ser505=) c.816C>T (p.Ser272=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.211702019G>C | CA350442275 | ERBB4 | c.1437C>G (p.Ser479Arg) c.1359C>G (p.Ser453Arg) c.1436C>G c.1260C>G (p.Ser420Arg) n.1489C>G c.1515C>G (p.Ser505Arg) c.816C>G (p.Ser272Arg) | dbSNP |
2 | g.211702019G= | CA1325614764 | ERBB4 | c.1437C= (p.Ser479=) c.1359C= (p.Ser453=) c.1436C= c.1260C= (p.Ser420=) n.1489C= c.1515C= (p.Ser505=) c.816C= (p.Ser272=) | |
2 | g.211702019G>T | CA350442274 | ERBB4 | c.1437C>A (p.Ser479Arg) c.1359C>A (p.Ser453Arg) c.1436C>A c.1260C>A (p.Ser420Arg) n.1489C>A c.1515C>A (p.Ser505Arg) c.816C>A (p.Ser272Arg) | |
2 | g.211702020C>A | CA350442276 | ERBB4 | c.1436G>T (p.Ser479Ile) c.1358G>T (p.Ser453Ile) c.1435G>T c.1259G>T (p.Ser420Ile) n.1488G>T c.1514G>T (p.Ser505Ile) c.815G>T (p.Ser272Ile) | dbSNP |
2 | g.211702020C= | CA1325614765 | ERBB4 | c.1436G= (p.Ser479=) c.1358G= (p.Ser453=) c.1435G= c.1259G= (p.Ser420=) n.1488G= c.1514G= (p.Ser505=) c.815G= (p.Ser272=) | |
2 | g.211702020C>G | CA350442277 | ERBB4 | c.1436G>C (p.Ser479Thr) c.1358G>C (p.Ser453Thr) c.1435G>C c.1259G>C (p.Ser420Thr) n.1488G>C c.1514G>C (p.Ser505Thr) c.815G>C (p.Ser272Thr) | dbSNP |
2 | g.211702020C>T | CA350442278 | ERBB4 | c.1436G>A (p.Ser479Asn) c.1358G>A (p.Ser453Asn) c.1435G>A c.1259G>A (p.Ser420Asn) n.1488G>A c.1514G>A (p.Ser505Asn) c.815G>A (p.Ser272Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.211702021T>A | CA350442279 | ERBB4 | c.1435A>T (p.Ser479Cys) c.1357A>T (p.Ser453Cys) c.1434A>T c.1258A>T (p.Ser420Cys) n.1487A>T c.1513A>T (p.Ser505Cys) c.814A>T (p.Ser272Cys) | |
2 | g.211702021T>C | CA350442280 | ERBB4 | c.1435A>G (p.Ser479Gly) c.1357A>G (p.Ser453Gly) c.1434A>G c.1258A>G (p.Ser420Gly) n.1487A>G c.1513A>G (p.Ser505Gly) c.814A>G (p.Ser272Gly) | |
2 | g.211702021T>G | CA350442281 | ERBB4 | c.1435A>C (p.Ser479Arg) c.1357A>C (p.Ser453Arg) c.1434A>C c.1258A>C (p.Ser420Arg) n.1487A>C c.1513A>C (p.Ser505Arg) c.814A>C (p.Ser272Arg) | |
2 | g.211702022G>A | CA431130711 | ERBB4 | c.1434C>T (p.Phe478=) c.1356C>T (p.Phe452=) c.1433C>T c.1257C>T (p.Phe419=) n.1486C>T c.1512C>T (p.Phe504=) c.813C>T (p.Phe271=) | dbSNP |
2 | g.211702022G>C | CA350442282 | ERBB4 | c.1434C>G (p.Phe478Leu) c.1356C>G (p.Phe452Leu) c.1433C>G c.1257C>G (p.Phe419Leu) n.1486C>G c.1512C>G (p.Phe504Leu) c.813C>G (p.Phe271Leu) | dbSNP |
2 | g.211702022G>T | CA350442283 | ERBB4 | c.1434C>A (p.Phe478Leu) c.1356C>A (p.Phe452Leu) c.1433C>A c.1257C>A (p.Phe419Leu) n.1486C>A c.1512C>A (p.Phe504Leu) c.813C>A (p.Phe271Leu) | |
2 | g.211702023A>C | CA350442284 | ERBB4 | c.1433T>G (p.Phe478Cys) c.1355T>G (p.Phe452Cys) c.1432T>G c.1256T>G (p.Phe419Cys) n.1485T>G c.1511T>G (p.Phe504Cys) c.812T>G (p.Phe271Cys) | |
2 | g.211702023A>G | CA350442285 | ERBB4 | c.1433T>C (p.Phe478Ser) c.1355T>C (p.Phe452Ser) c.1432T>C c.1256T>C (p.Phe419Ser) n.1485T>C c.1511T>C (p.Phe504Ser) c.812T>C (p.Phe271Ser) | |
2 | g.211702023A>T | CA350442286 | ERBB4 | c.1433T>A (p.Phe478Tyr) c.1355T>A (p.Phe452Tyr) c.1432T>A c.1256T>A (p.Phe419Tyr) n.1485T>A c.1511T>A (p.Phe504Tyr) c.812T>A (p.Phe271Tyr) | dbSNP |
2 | g.211702023_211702025delinsAAG | CA1325614766 | ERBB4 | c.1431_1433delinsCTT (p.Leu477=) c.1353_1355delinsCTT (p.Leu451=) c.1430_1432delinsCTT c.1254_1256delinsCTT (p.Leu418=) n.1483_1485delinsCTT c.1509_1511delinsCTT (p.Leu503=) c.810_812delinsCTT (p.Leu270=) | |
2 | g.211702024A>C | CA350442287 | ERBB4 | c.1432T>G (p.Phe478Val) c.1354T>G (p.Phe452Val) c.1431T>G c.1255T>G (p.Phe419Val) n.1484T>G c.1510T>G (p.Phe504Val) c.811T>G (p.Phe271Val) | COSMIC |
2 | g.211702024A>G | CA350442288 | ERBB4 | c.1432T>C (p.Phe478Leu) c.1354T>C (p.Phe452Leu) c.1431T>C c.1255T>C (p.Phe419Leu) n.1484T>C c.1510T>C (p.Phe504Leu) c.811T>C (p.Phe271Leu) | gnomAD v4 |
2 | g.211702024A>T | CA350442289 | ERBB4 | c.1432T>A (p.Phe478Ile) c.1354T>A (p.Phe452Ile) c.1431T>A c.1255T>A (p.Phe419Ile) n.1484T>A c.1510T>A (p.Phe504Ile) c.811T>A (p.Phe271Ile) | dbSNP |
2 | g.211702026_211702027del | CA764258985 | ERBB4 | c.1431_1432del (p.Phe478GlnfsTer16) c.1353_1354del (p.Phe452GlnfsTer16) c.1430_1431del c.1254_1255del (p.Phe419GlnfsTer16) n.1483_1484del c.1509_1510del (p.Phe504GlnfsTer16) c.810_811del (p.Phe271GlnfsTer16) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.211702025G>A | CA431130723 | ERBB4 | c.1431C>T (p.Leu477=) c.1353C>T (p.Leu451=) c.1430C>T c.1254C>T (p.Leu418=) n.1483C>T c.1509C>T (p.Leu503=) c.810C>T (p.Leu270=) | dbSNP |
2 | g.211702025G>C | CA431130725 | ERBB4 | c.1431C>G (p.Leu477=) c.1353C>G (p.Leu451=) c.1430C>G c.1254C>G (p.Leu418=) n.1483C>G c.1509C>G (p.Leu503=) c.810C>G (p.Leu270=) | dbSNP COSMIC |
2 | g.211702025G>T | CA431130727 | ERBB4 | c.1431C>A (p.Leu477=) c.1353C>A (p.Leu451=) c.1430C>A c.1254C>A (p.Leu418=) n.1483C>A c.1509C>A (p.Leu503=) c.810C>A (p.Leu270=) | |
2 | g.211702026A= | CA1325614767 | ERBB4 | c.1430T= (p.Leu477=) c.1352T= (p.Leu451=) c.1429T= c.1253T= (p.Leu418=) n.1482T= c.1508T= (p.Leu503=) c.809T= (p.Leu270=) | |
2 | g.211702026A>C | CA350442292 | ERBB4 | c.1430T>G (p.Leu477Arg) c.1352T>G (p.Leu451Arg) c.1429T>G c.1253T>G (p.Leu418Arg) n.1482T>G c.1508T>G (p.Leu503Arg) c.809T>G (p.Leu270Arg) | dbSNP |
2 | g.211702026A>G | CA350442291 | ERBB4 | c.1430T>C (p.Leu477Pro) c.1352T>C (p.Leu451Pro) c.1429T>C c.1253T>C (p.Leu418Pro) n.1482T>C c.1508T>C (p.Leu503Pro) c.809T>C (p.Leu270Pro) | |
2 | g.211702026A>T | CA350442290 | ERBB4 | c.1430T>A (p.Leu477His) c.1352T>A (p.Leu451His) c.1429T>A c.1253T>A (p.Leu418His) n.1482T>A c.1508T>A (p.Leu503His) c.809T>A (p.Leu270His) | dbSNP gnomAD v4 |
2 | g.211702027G>A | CA350442293 | ERBB4 | c.1429C>T (p.Leu477Phe) c.1351C>T (p.Leu451Phe) c.1428C>T c.1252C>T (p.Leu418Phe) n.1481C>T c.1507C>T (p.Leu503Phe) c.808C>T (p.Leu270Phe) | gnomAD v4 |
2 | g.211702027G>C | CA350442294 | ERBB4 | c.1429C>G (p.Leu477Val) c.1351C>G (p.Leu451Val) c.1428C>G c.1252C>G (p.Leu418Val) n.1481C>G c.1507C>G (p.Leu503Val) c.808C>G (p.Leu270Val) | dbSNP |
2 | g.211702027G>T | CA350442295 | ERBB4 | c.1429C>A (p.Leu477Ile) c.1351C>A (p.Leu451Ile) c.1428C>A c.1252C>A (p.Leu418Ile) n.1481C>A c.1507C>A (p.Leu503Ile) c.808C>A (p.Leu270Ile) | dbSNP |
2 | g.211702028T>A | CA431130736 | ERBB4 | c.1428A>T (p.Thr476=) c.1350A>T (p.Thr450=) c.1427A>T c.1251A>T (p.Thr417=) n.1480A>T c.1506A>T (p.Thr502=) c.807A>T (p.Thr269=) | dbSNP |
2 | g.211702028T>C | CA2088134 | ERBB4 | c.1428A>G (p.Thr476=) c.1350A>G (p.Thr450=) c.1427A>G c.1251A>G (p.Thr417=) n.1480A>G c.1506A>G (p.Thr502=) c.807A>G (p.Thr269=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.211702028T>G | CA2088135 | ERBB4 | c.1428A>C (p.Thr476=) c.1350A>C (p.Thr450=) c.1427A>C c.1251A>C (p.Thr417=) n.1480A>C c.1506A>C (p.Thr502=) c.807A>C (p.Thr269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.211702028T= | CA1325614768 | ERBB4 | c.1428A= (p.Thr476=) c.1350A= (p.Thr450=) c.1427A= c.1251A= (p.Thr417=) n.1480A= c.1506A= (p.Thr502=) c.807A= (p.Thr269=) | |
2 | g.211702029G>A | CA2088136 | ERBB4 | c.1427C>T (p.Thr476Ile) c.1349C>T (p.Thr450Ile) c.1426C>T c.1250C>T (p.Thr417Ile) n.1479C>T c.1505C>T (p.Thr502Ile) c.806C>T (p.Thr269Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.211702029G>C | CA350442296 | ERBB4 | c.1427C>G (p.Thr476Arg) c.1349C>G (p.Thr450Arg) c.1426C>G c.1250C>G (p.Thr417Arg) n.1479C>G c.1505C>G (p.Thr502Arg) c.806C>G (p.Thr269Arg) | dbSNP |
2 | g.211702029G= | CA1325614769 | ERBB4 | c.1427C= (p.Thr476=) c.1349C= (p.Thr450=) c.1426C= c.1250C= (p.Thr417=) n.1479C= c.1505C= (p.Thr502=) c.806C= (p.Thr269=) | |
2 | g.211702029G>T | CA350442297 | ERBB4 | c.1427C>A (p.Thr476Lys) c.1349C>A (p.Thr450Lys) c.1426C>A c.1250C>A (p.Thr417Lys) n.1479C>A c.1505C>A (p.Thr502Lys) c.806C>A (p.Thr269Lys) | |
2 | g.211702030T>A | CA350442298 | ERBB4 | c.1426A>T (p.Thr476Ser) c.1348A>T (p.Thr450Ser) c.1425A>T c.1249A>T (p.Thr417Ser) n.1478A>T c.1504A>T (p.Thr502Ser) c.805A>T (p.Thr269Ser) | |
2 | g.211702030T>C | CA2088137 | ERBB4 | c.1426A>G (p.Thr476Ala) c.1348A>G (p.Thr450Ala) c.1425A>G c.1249A>G (p.Thr417Ala) n.1478A>G c.1504A>G (p.Thr502Ala) c.805A>G (p.Thr269Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.211702030T>G | CA350442299 | ERBB4 | c.1426A>C (p.Thr476Pro) c.1348A>C (p.Thr450Pro) c.1425A>C c.1249A>C (p.Thr417Pro) n.1478A>C c.1504A>C (p.Thr502Pro) c.805A>C (p.Thr269Pro) | |
2 | g.211702030T= | CA1325614770 | ERBB4 | c.1426A= (p.Thr476=) c.1348A= (p.Thr450=) c.1425A= c.1249A= (p.Thr417=) n.1478A= c.1504A= (p.Thr502=) c.805A= (p.Thr269=) | |
2 | g.211702031T>A | CA431130747 | ERBB4 | c.1425A>T (p.Thr475=) c.1347A>T (p.Thr449=) c.1424A>T c.1248A>T (p.Thr416=) n.1477A>T c.1503A>T (p.Thr501=) c.804A>T (p.Thr268=) | |
2 | g.211702031T>C | CA431130748 | ERBB4 | c.1425A>G (p.Thr475=) c.1347A>G (p.Thr449=) c.1424A>G c.1248A>G (p.Thr416=) n.1477A>G c.1503A>G (p.Thr501=) c.804A>G (p.Thr268=) | |
2 | g.211702031T>G | CA431130750 | ERBB4 | c.1425A>C (p.Thr475=) c.1347A>C (p.Thr449=) c.1424A>C c.1248A>C (p.Thr416=) n.1477A>C c.1503A>C (p.Thr501=) c.804A>C (p.Thr268=) | dbSNP |
2 | g.211702032G>A | CA350442300 | ERBB4 | c.1424C>T (p.Thr475Ile) c.1346C>T (p.Thr449Ile) c.1423C>T c.1247C>T (p.Thr416Ile) n.1476C>T c.1502C>T (p.Thr501Ile) c.803C>T (p.Thr268Ile) | |
2 | g.211702032G>C | CA350442301 | ERBB4 | c.1424C>G (p.Thr475Arg) c.1346C>G (p.Thr449Arg) c.1423C>G c.1247C>G (p.Thr416Arg) n.1476C>G c.1502C>G (p.Thr501Arg) c.803C>G (p.Thr268Arg) | dbSNP |
2 | g.211702032G>T | CA350442302 | ERBB4 | c.1424C>A (p.Thr475Lys) c.1346C>A (p.Thr449Lys) c.1423C>A c.1247C>A (p.Thr416Lys) n.1476C>A c.1502C>A (p.Thr501Lys) c.803C>A (p.Thr268Lys) | dbSNP |
2 | g.211702033T>A | CA350442304 | ERBB4 | c.1423A>T (p.Thr475Ser) c.1345A>T (p.Thr449Ser) c.1422A>T c.1246A>T (p.Thr416Ser) n.1475A>T c.1501A>T (p.Thr501Ser) c.802A>T (p.Thr268Ser) | |
2 | g.211702033T>C | CA350442305 | ERBB4 | c.1423A>G (p.Thr475Ala) c.1345A>G (p.Thr449Ala) c.1422A>G c.1246A>G (p.Thr416Ala) n.1475A>G c.1501A>G (p.Thr501Ala) c.802A>G (p.Thr268Ala) | |
2 | g.211702033T>G | CA350442303 | ERBB4 | c.1423A>C (p.Thr475Pro) c.1345A>C (p.Thr449Pro) c.1422A>C c.1246A>C (p.Thr416Pro) n.1475A>C c.1501A>C (p.Thr501Pro) c.802A>C (p.Thr268Pro) | COSMIC COSMIC |
2 | g.211702034C>A | CA350442306 | ERBB4 | c.1422G>T (p.Trp474Cys) c.1344G>T (p.Trp448Cys) c.1421G>T c.1245G>T (p.Trp415Cys) n.1474G>T c.1500G>T (p.Trp500Cys) c.801G>T (p.Trp267Cys) | COSMIC COSMIC |
2 | g.211702034C>G | CA350442307 | ERBB4 | c.1422G>C (p.Trp474Cys) c.1344G>C (p.Trp448Cys) c.1421G>C c.1245G>C (p.Trp415Cys) n.1474G>C c.1500G>C (p.Trp500Cys) c.801G>C (p.Trp267Cys) | |
2 | g.211702034C>T | CA350442308 | ERBB4 | c.1422G>A (p.Trp474Ter) c.1344G>A (p.Trp448Ter) c.1421G>A c.1245G>A (p.Trp415Ter) n.1474G>A c.1500G>A (p.Trp500Ter) c.801G>A (p.Trp267Ter) | gnomAD v4 |
2 | g.211702035C>A | CA350442309 | ERBB4 | c.1421G>T (p.Trp474Leu) c.1343G>T (p.Trp448Leu) c.1420G>T c.1244G>T (p.Trp415Leu) n.1473G>T c.1499G>T (p.Trp500Leu) c.800G>T (p.Trp267Leu) | dbSNP |
2 | g.211702035C>G | CA350442310 | ERBB4 | c.1421G>C (p.Trp474Ser) c.1343G>C (p.Trp448Ser) c.1420G>C c.1244G>C (p.Trp415Ser) n.1473G>C c.1499G>C (p.Trp500Ser) c.800G>C (p.Trp267Ser) | dbSNP |
2 | g.211702035C>T | CA350442311 | ERBB4 | c.1421G>A (p.Trp474Ter) c.1343G>A (p.Trp448Ter) c.1420G>A c.1244G>A (p.Trp415Ter) n.1473G>A c.1499G>A (p.Trp500Ter) c.800G>A (p.Trp267Ter) | dbSNP |
2 | g.211702036A>C | CA350442314 | ERBB4 | c.1420T>G (p.Trp474Gly) c.1342T>G (p.Trp448Gly) c.1419T>G c.1243T>G (p.Trp415Gly) n.1472T>G c.1498T>G (p.Trp500Gly) c.799T>G (p.Trp267Gly) | |
2 | g.211702036A>G | CA350442312 | ERBB4 | c.1420T>C (p.Trp474Arg) c.1342T>C (p.Trp448Arg) c.1419T>C c.1243T>C (p.Trp415Arg) n.1472T>C c.1498T>C (p.Trp500Arg) c.799T>C (p.Trp267Arg) | |
2 | g.211702036A>T | CA350442313 | ERBB4 | c.1420T>A (p.Trp474Arg) c.1342T>A (p.Trp448Arg) c.1419T>A c.1243T>A (p.Trp415Arg) n.1472T>A c.1498T>A (p.Trp500Arg) c.799T>A (p.Trp267Arg) | |
2 | g.211702037G>A | CA431130759 | ERBB4 | c.1419C>T (p.Asn473=) c.1341C>T (p.Asn447=) c.1418C>T c.1242C>T (p.Asn414=) n.1471C>T c.1497C>T (p.Asn499=) c.798C>T (p.Asn266=) | |
2 | g.211702037G>C | CA350442315 | ERBB4 | c.1419C>G (p.Asn473Lys) c.1341C>G (p.Asn447Lys) c.1418C>G c.1242C>G (p.Asn414Lys) n.1471C>G c.1497C>G (p.Asn499Lys) c.798C>G (p.Asn266Lys) | COSMIC COSMIC |
2 | g.211702037G>T | CA350442316 | ERBB4 | c.1419C>A (p.Asn473Lys) c.1341C>A (p.Asn447Lys) c.1418C>A c.1242C>A (p.Asn414Lys) n.1471C>A c.1497C>A (p.Asn499Lys) c.798C>A (p.Asn266Lys) | |
2 | g.211702038T>A | CA350442317 | ERBB4 | c.1418A>T (p.Asn473Ile) c.1340A>T (p.Asn447Ile) c.1417A>T c.1241A>T (p.Asn414Ile) n.1470A>T c.1496A>T (p.Asn499Ile) c.797A>T (p.Asn266Ile) | dbSNP |
2 | g.211702038T>C | CA350442318 | ERBB4 | c.1418A>G (p.Asn473Ser) c.1340A>G (p.Asn447Ser) c.1417A>G c.1241A>G (p.Asn414Ser) n.1470A>G c.1496A>G (p.Asn499Ser) c.797A>G (p.Asn266Ser) | |
2 | g.211702038T>G | CA350442319 | ERBB4 | c.1418A>C (p.Asn473Thr) c.1340A>C (p.Asn447Thr) c.1417A>C c.1241A>C (p.Asn414Thr) n.1470A>C c.1496A>C (p.Asn499Thr) c.797A>C (p.Asn266Thr) | |
2 | g.211702039T>A | CA350442320 | ERBB4 | c.1417A>T (p.Asn473Tyr) c.1339A>T (p.Asn447Tyr) c.1416A>T c.1240A>T (p.Asn414Tyr) n.1469A>T c.1495A>T (p.Asn499Tyr) c.796A>T (p.Asn266Tyr) | |
2 | g.211702039T>C | CA350442322 | ERBB4 | c.1417A>G (p.Asn473Asp) c.1339A>G (p.Asn447Asp) c.1416A>G c.1240A>G (p.Asn414Asp) n.1469A>G c.1495A>G (p.Asn499Asp) c.796A>G (p.Asn266Asp) | |
2 | g.211702039T>G | CA350442321 | ERBB4 | c.1417A>C (p.Asn473His) c.1339A>C (p.Asn447His) c.1416A>C c.1240A>C (p.Asn414His) n.1469A>C c.1495A>C (p.Asn499His) c.796A>C (p.Asn266His) | |
2 | g.211702040A>C | CA350442323 | ERBB4 | c.1416T>G (p.Ile472Met) c.1338T>G (p.Ile446Met) c.1415T>G c.1239T>G (p.Ile413Met) n.1468T>G c.1494T>G (p.Ile498Met) c.795T>G (p.Ile265Met) | |
2 | g.211702040A>G | CA431130770 | ERBB4 | c.1416T>C (p.Ile472=) c.1338T>C (p.Ile446=) c.1415T>C c.1239T>C (p.Ile413=) n.1468T>C c.1494T>C (p.Ile498=) c.795T>C (p.Ile265=) | dbSNP |
2 | g.211702040A>T | CA431130771 | ERBB4 | c.1416T>A (p.Ile472=) c.1338T>A (p.Ile446=) c.1415T>A c.1239T>A (p.Ile413=) n.1468T>A c.1494T>A (p.Ile498=) c.795T>A (p.Ile265=) | dbSNP |
2 | g.211702041A>C | CA350442324 | ERBB4 | c.1415T>G (p.Ile472Ser) c.1337T>G (p.Ile446Ser) c.1414T>G c.1238T>G (p.Ile413Ser) n.1467T>G c.1493T>G (p.Ile498Ser) c.794T>G (p.Ile265Ser) | |
2 | g.211702041A>G | CA350442325 | ERBB4 | c.1415T>C (p.Ile472Thr) c.1337T>C (p.Ile446Thr) c.1414T>C c.1238T>C (p.Ile413Thr) n.1467T>C c.1493T>C (p.Ile498Thr) c.794T>C (p.Ile265Thr) | |
2 | g.211702041A>T | CA350442326 | ERBB4 | c.1415T>A (p.Ile472Asn) c.1337T>A (p.Ile446Asn) c.1414T>A c.1238T>A (p.Ile413Asn) n.1467T>A c.1493T>A (p.Ile498Asn) c.794T>A (p.Ile265Asn) | |
2 | g.211702042T>A | CA350442327 | ERBB4 | c.1414A>T (p.Ile472Phe) c.1336A>T (p.Ile446Phe) c.1413A>T c.1237A>T (p.Ile413Phe) n.1466A>T c.1492A>T (p.Ile498Phe) c.793A>T (p.Ile265Phe) | |
2 | g.211702042T>C | CA2088138 | ERBB4 | c.1414A>G (p.Ile472Val) c.1336A>G (p.Ile446Val) c.1413A>G c.1237A>G (p.Ile413Val) n.1466A>G c.1492A>G (p.Ile498Val) c.793A>G (p.Ile265Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.211702042T>G | CA350442328 | ERBB4 | c.1414A>C (p.Ile472Leu) c.1336A>C (p.Ile446Leu) c.1413A>C c.1237A>C (p.Ile413Leu) n.1466A>C c.1492A>C (p.Ile498Leu) c.793A>C (p.Ile265Leu) | |
2 | g.211702042T= | CA1325614771 | ERBB4 | c.1414A= (p.Ile472=) c.1336A= (p.Ile446=) c.1413A= c.1237A= (p.Ile413=) n.1466A= c.1492A= (p.Ile498=) c.793A= (p.Ile265=) | |
2 | g.211702043G>A | CA431130780 | ERBB4 | c.1413C>T (p.Thr471=) c.1335C>T (p.Thr445=) c.1412C>T c.1236C>T (p.Thr412=) n.1465C>T c.1491C>T (p.Thr497=) c.792C>T (p.Thr264=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.211702043G>C | CA431130781 | ERBB4 | c.1413C>G (p.Thr471=) c.1335C>G (p.Thr445=) c.1412C>G c.1236C>G (p.Thr412=) n.1465C>G c.1491C>G (p.Thr497=) c.792C>G (p.Thr264=) | dbSNP |
2 | g.211702043G= | CA1325614772 | ERBB4 | c.1413C= (p.Thr471=) c.1335C= (p.Thr445=) c.1412C= c.1236C= (p.Thr412=) n.1465C= c.1491C= (p.Thr497=) c.792C= (p.Thr264=) | |
2 | g.211702043G>T | CA431130783 | ERBB4 | c.1413C>A (p.Thr471=) c.1335C>A (p.Thr445=) c.1412C>A c.1236C>A (p.Thr412=) n.1465C>A c.1491C>A (p.Thr497=) c.792C>A (p.Thr264=) | dbSNP |
2 | g.211702044G>A | CA350442329 | ERBB4 | c.1412C>T (p.Thr471Ile) c.1334C>T (p.Thr445Ile) c.1411C>T c.1235C>T (p.Thr412Ile) n.1464C>T c.1490C>T (p.Thr497Ile) c.791C>T (p.Thr264Ile) | dbSNP |
2 | g.211702044G>C | CA350442330 | ERBB4 | c.1412C>G (p.Thr471Ser) c.1334C>G (p.Thr445Ser) c.1411C>G c.1235C>G (p.Thr412Ser) n.1464C>G c.1490C>G (p.Thr497Ser) c.791C>G (p.Thr264Ser) | dbSNP |
2 | g.211702044G>T | CA350442331 | ERBB4 | c.1412C>A (p.Thr471Asn) c.1334C>A (p.Thr445Asn) c.1411C>A c.1235C>A (p.Thr412Asn) n.1464C>A c.1490C>A (p.Thr497Asn) c.791C>A (p.Thr264Asn) | COSMIC COSMIC |
2 | g.211702045T>A | CA350442334 | ERBB4 | c.1411A>T (p.Thr471Ser) c.1333A>T (p.Thr445Ser) c.1410A>T c.1234A>T (p.Thr412Ser) n.1463A>T c.1489A>T (p.Thr497Ser) c.790A>T (p.Thr264Ser) | |
2 | g.211702045T>C | CA350442332 | ERBB4 | c.1411A>G (p.Thr471Ala) c.1333A>G (p.Thr445Ala) c.1410A>G c.1234A>G (p.Thr412Ala) n.1463A>G c.1489A>G (p.Thr497Ala) c.790A>G (p.Thr264Ala) | gnomAD v4 |
2 | g.211702045T>G | CA350442333 | ERBB4 | c.1411A>C (p.Thr471Pro) c.1333A>C (p.Thr445Pro) c.1410A>C c.1234A>C (p.Thr412Pro) n.1463A>C c.1489A>C (p.Thr497Pro) c.790A>C (p.Thr264Pro) | |
2 | g.211702045_211702047dup | CA2662947260 | ERBB4 | c.1409_1411dup (p.His470_Thr471insAsn) c.1331_1333dup (p.His444_Thr445insAsn) c.1408_1410dup c.1232_1234dup (p.His411_Thr412insAsn) n.1461_1463dup c.1487_1489dup (p.His496_Thr497insAsn) c.788_790dup (p.His263_Thr264insAsn) | gnomAD v4 |
2 | g.211702046A= | CA1325614773 | ERBB4 | c.1410T= (p.His470=) c.1332T= (p.His444=) c.1409T= c.1233T= (p.His411=) n.1462T= c.1488T= (p.His496=) c.789T= (p.His263=) | |
2 | g.211702046A>C | CA350442335 | ERBB4 | c.1410T>G (p.His470Gln) c.1332T>G (p.His444Gln) c.1409T>G c.1233T>G (p.His411Gln) n.1462T>G c.1488T>G (p.His496Gln) c.789T>G (p.His263Gln) | |
2 | g.211702046A>G | CA2088139 | ERBB4 | c.1410T>C (p.His470=) c.1332T>C (p.His444=) c.1409T>C c.1233T>C (p.His411=) n.1462T>C c.1488T>C (p.His496=) c.789T>C (p.His263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.211702046A>T | CA350442336 | ERBB4 | c.1410T>A (p.His470Gln) c.1332T>A (p.His444Gln) c.1409T>A c.1233T>A (p.His411Gln) n.1462T>A c.1488T>A (p.His496Gln) c.789T>A (p.His263Gln) | dbSNP |
2 | g.211702047T>A | CA350442337 | ERBB4 | c.1409A>T (p.His470Leu) c.1331A>T (p.His444Leu) c.1408A>T c.1232A>T (p.His411Leu) n.1461A>T c.1487A>T (p.His496Leu) c.788A>T (p.His263Leu) | |
2 | g.211702047T>C | CA350442339 | ERBB4 | c.1409A>G (p.His470Arg) c.1331A>G (p.His444Arg) c.1408A>G c.1232A>G (p.His411Arg) n.1461A>G c.1487A>G (p.His496Arg) c.788A>G (p.His263Arg) | dbSNP |
2 | g.211702047T>G | CA350442338 | ERBB4 | c.1409A>C (p.His470Pro) c.1331A>C (p.His444Pro) c.1408A>C c.1232A>C (p.His411Pro) n.1461A>C c.1487A>C (p.His496Pro) c.788A>C (p.His263Pro) | |
2 | g.211702048G>A | CA350442340 | ERBB4 | c.1408C>T (p.His470Tyr) c.1330C>T (p.His444Tyr) c.1407C>T c.1231C>T (p.His411Tyr) n.1460C>T c.1486C>T (p.His496Tyr) c.787C>T (p.His263Tyr) | dbSNP gnomAD v4 |
2 | g.211702048G>C | CA350442342 | ERBB4 | c.1408C>G (p.His470Asp) c.1330C>G (p.His444Asp) c.1407C>G c.1231C>G (p.His411Asp) n.1460C>G c.1486C>G (p.His496Asp) c.787C>G (p.His263Asp) | dbSNP |
2 | g.211702048G>T | CA350442341 | ERBB4 | c.1408C>A (p.His470Asn) c.1330C>A (p.His444Asn) c.1407C>A c.1231C>A (p.His411Asn) n.1460C>A c.1486C>A (p.His496Asn) c.787C>A (p.His263Asn) | |
2 | g.211702049A>C | CA350442343 | ERBB4 | c.1407T>G (p.Tyr469Ter) c.1329T>G (p.Tyr443Ter) c.1406T>G c.1230T>G (p.Tyr410Ter) n.1459T>G c.1485T>G (p.Tyr495Ter) c.786T>G (p.Tyr262Ter) | |
2 | g.211702049A>G | CA431130802 | ERBB4 | c.1407T>C (p.Tyr469=) c.1329T>C (p.Tyr443=) c.1406T>C c.1230T>C (p.Tyr410=) n.1459T>C c.1485T>C (p.Tyr495=) c.786T>C (p.Tyr262=) | dbSNP |
2 | g.211702049A>T | CA350442344 | ERBB4 | c.1407T>A (p.Tyr469Ter) c.1329T>A (p.Tyr443Ter) c.1406T>A c.1230T>A (p.Tyr410Ter) n.1459T>A c.1485T>A (p.Tyr495Ter) c.786T>A (p.Tyr262Ter) | |
2 | g.211702050T>A | CA350442345 | ERBB4 | c.1406A>T (p.Tyr469Phe) c.1328A>T (p.Tyr443Phe) c.1405A>T c.1229A>T (p.Tyr410Phe) n.1458A>T c.1484A>T (p.Tyr495Phe) c.785A>T (p.Tyr262Phe) | dbSNP |
2 | g.211702050T>C | CA2088140 | ERBB4 | c.1406A>G (p.Tyr469Cys) c.1328A>G (p.Tyr443Cys) c.1405A>G c.1229A>G (p.Tyr410Cys) n.1458A>G c.1484A>G (p.Tyr495Cys) c.785A>G (p.Tyr262Cys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.211702050T>G | CA350442346 | ERBB4 | c.1406A>C (p.Tyr469Ser) c.1328A>C (p.Tyr443Ser) c.1405A>C c.1229A>C (p.Tyr410Ser) n.1458A>C c.1484A>C (p.Tyr495Ser) c.785A>C (p.Tyr262Ser) | |
2 | g.211702050T= | CA1325614774 | ERBB4 | c.1406A= (p.Tyr469=) c.1328A= (p.Tyr443=) c.1405A= c.1229A= (p.Tyr410=) n.1458A= c.1484A= (p.Tyr495=) c.785A= (p.Tyr262=) | |
2 | g.211702051A>C | CA350442347 | ERBB4 | c.1405T>G (p.Tyr469Asp) c.1327T>G (p.Tyr443Asp) c.1404T>G c.1228T>G (p.Tyr410Asp) n.1457T>G c.1483T>G (p.Tyr495Asp) c.784T>G (p.Tyr262Asp) | |
2 | g.211702051A>G | CA350442348 | ERBB4 | c.1405T>C (p.Tyr469His) c.1327T>C (p.Tyr443His) c.1404T>C c.1228T>C (p.Tyr410His) n.1457T>C c.1483T>C (p.Tyr495His) c.784T>C (p.Tyr262His) | |
2 | g.211702051A>T | CA350442349 | ERBB4 | c.1405T>A (p.Tyr469Asn) c.1327T>A (p.Tyr443Asn) c.1404T>A c.1228T>A (p.Tyr410Asn) n.1457T>A c.1483T>A (p.Tyr495Asn) c.784T>A (p.Tyr262Asn) | dbSNP |
2 | g.211702052A= | CA1325614775 | ERBB4 | c.1404T= (p.Tyr468=) c.1326T= (p.Tyr442=) c.1403T= c.1227T= (p.Tyr409=) n.1456T= c.1482T= (p.Tyr494=) c.783T= (p.Tyr261=) | |
2 | g.211702052A>C | CA350442350 | ERBB4 | c.1404T>G (p.Tyr468Ter) c.1326T>G (p.Tyr442Ter) c.1403T>G c.1227T>G (p.Tyr409Ter) n.1456T>G c.1482T>G (p.Tyr494Ter) c.783T>G (p.Tyr261Ter) | |
2 | g.211702052A>G | CA2088141 | ERBB4 | c.1404T>C (p.Tyr468=) c.1326T>C (p.Tyr442=) c.1403T>C c.1227T>C (p.Tyr409=) n.1456T>C c.1482T>C (p.Tyr494=) c.783T>C (p.Tyr261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.211702052A>T | CA350442351 | ERBB4 | c.1404T>A (p.Tyr468Ter) c.1326T>A (p.Tyr442Ter) c.1403T>A c.1227T>A (p.Tyr409Ter) n.1456T>A c.1482T>A (p.Tyr494Ter) c.783T>A (p.Tyr261Ter) | |
2 | g.211702053T>A | CA350442352 | ERBB4 | c.1403A>T (p.Tyr468Phe) c.1325A>T (p.Tyr442Phe) c.1402A>T c.1226A>T (p.Tyr409Phe) n.1455A>T c.1481A>T (p.Tyr494Phe) c.782A>T (p.Tyr261Phe) | dbSNP COSMIC COSMIC |
2 | g.211702053T>C | CA350442353 | ERBB4 | c.1403A>G (p.Tyr468Cys) c.1325A>G (p.Tyr442Cys) c.1402A>G c.1226A>G (p.Tyr409Cys) n.1455A>G c.1481A>G (p.Tyr494Cys) c.782A>G (p.Tyr261Cys) | |
2 | g.211702053T>G | CA350442354 | ERBB4 | c.1403A>C (p.Tyr468Ser) c.1325A>C (p.Tyr442Ser) c.1402A>C c.1226A>C (p.Tyr409Ser) n.1455A>C c.1481A>C (p.Tyr494Ser) c.782A>C (p.Tyr261Ser) | |
2 | g.211702054A>C | CA350442357 | ERBB4 | c.1402T>G (p.Tyr468Asp) c.1324T>G (p.Tyr442Asp) c.1401T>G c.1225T>G (p.Tyr409Asp) n.1454T>G c.1480T>G (p.Tyr494Asp) c.781T>G (p.Tyr261Asp) | |
2 | g.211702054A>G | CA350442355 | ERBB4 | c.1402T>C (p.Tyr468His) c.1324T>C (p.Tyr442His) c.1401T>C c.1225T>C (p.Tyr409His) n.1454T>C c.1480T>C (p.Tyr494His) c.781T>C (p.Tyr261His) | |
2 | g.211702054A>T | CA350442356 | ERBB4 | c.1402T>A (p.Tyr468Asn) c.1324T>A (p.Tyr442Asn) c.1401T>A c.1225T>A (p.Tyr409Asn) n.1454T>A c.1480T>A (p.Tyr494Asn) c.781T>A (p.Tyr261Asn) | |
2 | g.211702055A>C | CA350442358 | ERBB4 | c.1401T>G (p.Cys467Trp) c.1323T>G (p.Cys441Trp) c.1400T>G c.1224T>G (p.Cys408Trp) n.1453T>G c.1479T>G (p.Cys493Trp) c.780T>G (p.Cys260Trp) | |
2 | g.211702055A>G | CA431130827 | ERBB4 | c.1401T>C (p.Cys467=) c.1323T>C (p.Cys441=) c.1400T>C c.1224T>C (p.Cys408=) n.1453T>C c.1479T>C (p.Cys493=) c.780T>C (p.Cys260=) | |
2 | g.211702055A>T | CA350442359 | ERBB4 | c.1401T>A (p.Cys467Ter) c.1323T>A (p.Cys441Ter) c.1400T>A c.1224T>A (p.Cys408Ter) n.1453T>A c.1479T>A (p.Cys493Ter) c.780T>A (p.Cys260Ter) | |
2 | g.211702056C>A | CA350442360 | ERBB4 | c.1400G>T (p.Cys467Phe) c.1322G>T (p.Cys441Phe) c.1399G>T c.1223G>T (p.Cys408Phe) n.1452G>T c.1478G>T (p.Cys493Phe) c.779G>T (p.Cys260Phe) | dbSNP |
2 | g.211702056C>G | CA350442361 | ERBB4 | c.1400G>C (p.Cys467Ser) c.1322G>C (p.Cys441Ser) c.1399G>C c.1223G>C (p.Cys408Ser) n.1452G>C c.1478G>C (p.Cys493Ser) c.779G>C (p.Cys260Ser) | dbSNP |
2 | g.211702056C>T | CA350442362 | ERBB4 | c.1400G>A (p.Cys467Tyr) c.1322G>A (p.Cys441Tyr) c.1399G>A c.1223G>A (p.Cys408Tyr) n.1452G>A c.1478G>A (p.Cys493Tyr) c.779G>A (p.Cys260Tyr) | dbSNP |
2 | g.211702057A>C | CA350442363 | ERBB4 | c.1399T>G (p.Cys467Gly) c.1321T>G (p.Cys441Gly) c.1398T>G c.1222T>G (p.Cys408Gly) n.1451T>G c.1477T>G (p.Cys493Gly) c.778T>G (p.Cys260Gly) | |
2 | g.211702057A>G | CA350442364 | ERBB4 | c.1399T>C (p.Cys467Arg) c.1321T>C (p.Cys441Arg) c.1398T>C c.1222T>C (p.Cys408Arg) n.1451T>C c.1477T>C (p.Cys493Arg) c.778T>C (p.Cys260Arg) | gnomAD v4 |
2 | g.211702057A>T | CA350442365 | ERBB4 | c.1399T>A (p.Cys467Ser) c.1321T>A (p.Cys441Ser) c.1398T>A c.1222T>A (p.Cys408Ser) n.1451T>A c.1477T>A (p.Cys493Ser) c.778T>A (p.Cys260Ser) | dbSNP |
2 | g.211702058C>A | CA431130832 | ERBB4 | c.1398G>T (p.Leu466=) c.1320G>T (p.Leu440=) c.1397G>T c.1221G>T (p.Leu407=) n.1450G>T c.1476G>T (p.Leu492=) c.777G>T (p.Leu259=) | |
2 | g.211702058C>G | CA431130835 | ERBB4 | c.1398G>C (p.Leu466=) c.1320G>C (p.Leu440=) c.1397G>C c.1221G>C (p.Leu407=) n.1450G>C c.1476G>C (p.Leu492=) c.777G>C (p.Leu259=) | dbSNP |
2 | g.211702058C>T | CA431130833 | ERBB4 | c.1398G>A (p.Leu466=) c.1320G>A (p.Leu440=) c.1397G>A c.1221G>A (p.Leu407=) n.1450G>A c.1476G>A (p.Leu492=) c.777G>A (p.Leu259=) | |
2 | g.211702059A>C | CA350442366 | ERBB4 | c.1397T>G (p.Leu466Arg) c.1319T>G (p.Leu440Arg) c.1396T>G c.1220T>G (p.Leu407Arg) n.1449T>G c.1475T>G (p.Leu492Arg) c.776T>G (p.Leu259Arg) | |
2 | g.211702059A>G | CA350442367 | ERBB4 | c.1397T>C (p.Leu466Pro) c.1319T>C (p.Leu440Pro) c.1396T>C c.1220T>C (p.Leu407Pro) n.1449T>C c.1475T>C (p.Leu492Pro) c.776T>C (p.Leu259Pro) | |
2 | g.211702059A>T | CA350442368 | ERBB4 | c.1397T>A (p.Leu466Gln) c.1319T>A (p.Leu440Gln) c.1396T>A c.1220T>A (p.Leu407Gln) n.1449T>A c.1475T>A (p.Leu492Gln) c.776T>A (p.Leu259Gln) | |
2 | g.211702060G>A | CA64751905 | ERBB4 | c.1396C>T (p.Leu466=) c.1318C>T (p.Leu440=) c.1395C>T c.1219C>T (p.Leu407=) n.1448C>T c.1474C>T (p.Leu492=) c.775C>T (p.Leu259=) | dbSNP |
2 | g.211702060G>C | CA350442369 | ERBB4 | c.1396C>G (p.Leu466Val) c.1318C>G (p.Leu440Val) c.1395C>G c.1219C>G (p.Leu407Val) n.1448C>G c.1474C>G (p.Leu492Val) c.775C>G (p.Leu259Val) | |
2 | g.211702060G= | CA1325614776 | ERBB4 | c.1396C= (p.Leu466=) c.1318C= (p.Leu440=) c.1395C= c.1219C= (p.Leu407=) n.1448C= c.1474C= (p.Leu492=) c.775C= (p.Leu259=) | |
2 | g.211702060G>T | CA350442370 | ERBB4 | c.1396C>A (p.Leu466Met) c.1318C>A (p.Leu440Met) c.1395C>A c.1219C>A (p.Leu407Met) n.1448C>A c.1474C>A (p.Leu492Met) c.775C>A (p.Leu259Met) | dbSNP gnomAD v4 |
2 | g.211702061G>A | CA431130842 | ERBB4 | c.1395C>T (p.Asn465=) c.1317C>T (p.Asn439=) c.1394C>T c.1218C>T (p.Asn406=) n.1447C>T c.1473C>T (p.Asn491=) c.774C>T (p.Asn258=) | dbSNP gnomAD v4 |
2 | g.211702061G>C | CA350442371 | ERBB4 | c.1395C>G (p.Asn465Lys) c.1317C>G (p.Asn439Lys) c.1394C>G c.1218C>G (p.Asn406Lys) n.1447C>G c.1473C>G (p.Asn491Lys) c.774C>G (p.Asn258Lys) | dbSNP |
2 | g.211702061G= | CA1325614777 | ERBB4 | c.1395C= (p.Asn465=) c.1317C= (p.Asn439=) c.1394C= c.1218C= (p.Asn406=) n.1447C= c.1473C= (p.Asn491=) c.774C= (p.Asn258=) | |
2 | g.211702061G>T | CA2088142 | ERBB4 | c.1395C>A (p.Asn465Lys) c.1317C>A (p.Asn439Lys) c.1394C>A c.1218C>A (p.Asn406Lys) n.1447C>A c.1473C>A (p.Asn491Lys) c.774C>A (p.Asn258Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.211702062T>A | CA350442372 | ERBB4 | c.1394A>T (p.Asn465Ile) c.1316A>T (p.Asn439Ile) c.1393A>T c.1217A>T (p.Asn406Ile) n.1446A>T c.1472A>T (p.Asn491Ile) c.773A>T (p.Asn258Ile) | dbSNP |
2 | g.211702062T>C | CA350442373 | ERBB4 | c.1394A>G (p.Asn465Ser) c.1316A>G (p.Asn439Ser) c.1393A>G c.1217A>G (p.Asn406Ser) n.1446A>G c.1472A>G (p.Asn491Ser) c.773A>G (p.Asn258Ser) | |
2 | g.211702062T>G | CA350442374 | ERBB4 | c.1394A>C (p.Asn465Thr) c.1316A>C (p.Asn439Thr) c.1393A>C c.1217A>C (p.Asn406Thr) n.1446A>C c.1472A>C (p.Asn491Thr) c.773A>C (p.Asn258Thr) | dbSNP |
2 | g.211702063T>A | CA350442375 | ERBB4 | c.1393A>T (p.Asn465Tyr) c.1315A>T (p.Asn439Tyr) c.1392A>T c.1216A>T (p.Asn406Tyr) n.1445A>T c.1471A>T (p.Asn491Tyr) c.772A>T (p.Asn258Tyr) | |
2 | g.211702063T>C | CA350442376 | ERBB4 | c.1393A>G (p.Asn465Asp) c.1315A>G (p.Asn439Asp) c.1392A>G c.1216A>G (p.Asn406Asp) n.1445A>G c.1471A>G (p.Asn491Asp) c.772A>G (p.Asn258Asp) | |
2 | g.211702063T>G | CA350442377 | ERBB4 | c.1393A>C (p.Asn465His) c.1315A>C (p.Asn439His) c.1392A>C c.1216A>C (p.Asn406His) n.1445A>C c.1471A>C (p.Asn491His) c.772A>C (p.Asn258His) | |
2 | g.211702064G>A | CA431130849 | ERBB4 | c.1392C>T (p.Ser464=) c.1314C>T (p.Ser438=) c.1391C>T c.1215C>T (p.Ser405=) n.1444C>T c.1470C>T (p.Ser490=) c.771C>T (p.Ser257=) | dbSNP |
2 | g.211702064G>C | CA350442378 | ERBB4 | c.1392C>G (p.Ser464Arg) c.1314C>G (p.Ser438Arg) c.1391C>G c.1215C>G (p.Ser405Arg) n.1444C>G c.1470C>G (p.Ser490Arg) c.771C>G (p.Ser257Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.211702064G= | CA1325614778 | ERBB4 | c.1392C= (p.Ser464=) c.1314C= (p.Ser438=) c.1391C= c.1215C= (p.Ser405=) n.1444C= c.1470C= (p.Ser490=) c.771C= (p.Ser257=) | |
2 | g.211702064G>T | CA350442379 | ERBB4 | c.1392C>A (p.Ser464Arg) c.1314C>A (p.Ser438Arg) c.1391C>A c.1215C>A (p.Ser405Arg) n.1444C>A c.1470C>A (p.Ser490Arg) c.771C>A (p.Ser257Arg) | |
2 | g.211702065C>A | CA350442380 | ERBB4 | c.1391G>T (p.Ser464Ile) c.1313G>T (p.Ser438Ile) c.1390G>T c.1214G>T (p.Ser405Ile) n.1443G>T c.1469G>T (p.Ser490Ile) c.770G>T (p.Ser257Ile) | |
2 | g.211702065C>G | CA350442381 | ERBB4 | c.1391G>C (p.Ser464Thr) c.1313G>C (p.Ser438Thr) c.1390G>C c.1214G>C (p.Ser405Thr) n.1443G>C c.1469G>C (p.Ser490Thr) c.770G>C (p.Ser257Thr) | dbSNP |
2 | g.211702065C>T | CA350442382 | ERBB4 | c.1391G>A (p.Ser464Asn) c.1313G>A (p.Ser438Asn) c.1390G>A c.1214G>A (p.Ser405Asn) n.1443G>A c.1469G>A (p.Ser490Asn) c.770G>A (p.Ser257Asn) | dbSNP gnomAD v4 |
2 | g.211702066T>A | CA350442383 | ERBB4 | c.1390A>T (p.Ser464Cys) c.1312A>T (p.Ser438Cys) c.1389A>T c.1213A>T (p.Ser405Cys) n.1442A>T c.1468A>T (p.Ser490Cys) c.769A>T (p.Ser257Cys) | |
2 | g.211702066T>C | CA350442385 | ERBB4 | c.1390A>G (p.Ser464Gly) c.1312A>G (p.Ser438Gly) c.1389A>G c.1213A>G (p.Ser405Gly) n.1442A>G c.1468A>G (p.Ser490Gly) c.769A>G (p.Ser257Gly) | gnomAD v4 COSMIC COSMIC |
2 | g.211702066T>G | CA350442384 | ERBB4 | c.1390A>C (p.Ser464Arg) c.1312A>C (p.Ser438Arg) c.1389A>C c.1213A>C (p.Ser405Arg) n.1442A>C c.1468A>C (p.Ser490Arg) c.769A>C (p.Ser257Arg) | |
2 | g.211702067G>A | CA431130865 | ERBB4 | c.1389C>T (p.Asn463=) c.1311C>T (p.Asn437=) c.1388C>T c.1212C>T (p.Asn404=) n.1441C>T c.1467C>T (p.Asn489=) c.768C>T (p.Asn256=) | dbSNP |
2 | g.211702067G>C | CA350442386 | ERBB4 | c.1389C>G (p.Asn463Lys) c.1311C>G (p.Asn437Lys) c.1388C>G c.1212C>G (p.Asn404Lys) n.1441C>G c.1467C>G (p.Asn489Lys) c.768C>G (p.Asn256Lys) | dbSNP |
2 | g.211702067G>T | CA350442387 | ERBB4 | c.1389C>A (p.Asn463Lys) c.1311C>A (p.Asn437Lys) c.1388C>A c.1212C>A (p.Asn404Lys) n.1441C>A c.1467C>A (p.Asn489Lys) c.768C>A (p.Asn256Lys) | dbSNP |
2 | g.211702068T>A | CA350442388 | ERBB4 | c.1388A>T (p.Asn463Ile) c.1310A>T (p.Asn437Ile) c.1387A>T c.1211A>T (p.Asn404Ile) n.1440A>T c.1466A>T (p.Asn489Ile) c.767A>T (p.Asn256Ile) | dbSNP |
2 | g.211702068T>C | CA350442389 | ERBB4 | c.1388A>G (p.Asn463Ser) c.1310A>G (p.Asn437Ser) c.1387A>G c.1211A>G (p.Asn404Ser) n.1440A>G c.1466A>G (p.Asn489Ser) c.767A>G (p.Asn256Ser) | |
2 | g.211702068T>G | CA350442390 | ERBB4 | c.1388A>C (p.Asn463Thr) c.1310A>C (p.Asn437Thr) c.1387A>C c.1211A>C (p.Asn404Thr) n.1440A>C c.1466A>C (p.Asn489Thr) c.767A>C (p.Asn256Thr) | |
2 | g.211702069T>A | CA350442391 | ERBB4 | c.1387A>T (p.Asn463Tyr) c.1309A>T (p.Asn437Tyr) c.1386A>T c.1210A>T (p.Asn404Tyr) n.1439A>T c.1465A>T (p.Asn489Tyr) c.766A>T (p.Asn256Tyr) | |
2 | g.211702069T>C | CA350442392 | ERBB4 | c.1387A>G (p.Asn463Asp) c.1309A>G (p.Asn437Asp) c.1386A>G c.1210A>G (p.Asn404Asp) n.1439A>G c.1465A>G (p.Asn489Asp) c.766A>G (p.Asn256Asp) | |
2 | g.211702069T>G | CA350442393 | ERBB4 | c.1387A>C (p.Asn463His) c.1309A>C (p.Asn437His) c.1386A>C c.1210A>C (p.Asn404His) n.1439A>C c.1465A>C (p.Asn489His) c.766A>C (p.Asn256His) | |
2 | g.211702070G>A | CA431130880 | ERBB4 | c.1386C>T (p.Asp462=) c.1308C>T (p.Asp436=) c.1385C>T c.1209C>T (p.Asp403=) n.1438C>T c.1464C>T (p.Asp488=) c.765C>T (p.Asp255=) | dbSNP |
2 | g.211702070G>C | CA350442394 | ERBB4 | c.1386C>G (p.Asp462Glu) c.1308C>G (p.Asp436Glu) c.1385C>G c.1209C>G (p.Asp403Glu) n.1438C>G c.1464C>G (p.Asp488Glu) c.765C>G (p.Asp255Glu) | |
2 | g.211702070G= | CA1325614779 | ERBB4 | c.1386C= (p.Asp462=) c.1308C= (p.Asp436=) c.1385C= c.1209C= (p.Asp403=) n.1438C= c.1464C= (p.Asp488=) c.765C= (p.Asp255=) | |
2 | g.211702070G>T | CA350442395 | ERBB4 | c.1386C>A (p.Asp462Glu) c.1308C>A (p.Asp436Glu) c.1385C>A c.1209C>A (p.Asp403Glu) n.1438C>A c.1464C>A (p.Asp488Glu) c.765C>A (p.Asp255Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.211702072_211702075del | CA2577232940 | ERBB4 | c.1383_1386del (p.Asp462ThrfsTer23) c.1305_1308del (p.Asp436ThrfsTer23) c.1382_1385del c.1206_1209del (p.Asp403ThrfsTer23) n.1435_1438del c.1461_1464del (p.Asp488ThrfsTer23) c.762_765del (p.Asp255ThrfsTer23) | |
2 | g.211702071T>A | CA350442398 | ERBB4 | c.1385A>T (p.Asp462Val) c.1307A>T (p.Asp436Val) c.1384A>T c.1208A>T (p.Asp403Val) n.1437A>T c.1463A>T (p.Asp488Val) c.764A>T (p.Asp255Val) | dbSNP |
2 | g.211702071T>C | CA350442397 | ERBB4 | c.1385A>G (p.Asp462Gly) c.1307A>G (p.Asp436Gly) c.1384A>G c.1208A>G (p.Asp403Gly) n.1437A>G c.1463A>G (p.Asp488Gly) c.764A>G (p.Asp255Gly) | dbSNP |
2 | g.211702071T>G | CA350442396 | ERBB4 | c.1385A>C (p.Asp462Ala) c.1307A>C (p.Asp436Ala) c.1384A>C c.1208A>C (p.Asp403Ala) n.1437A>C c.1463A>C (p.Asp488Ala) c.764A>C (p.Asp255Ala) | dbSNP |
2 | g.211702072C>A | CA350442399 | ERBB4 | c.1384G>T (p.Asp462Tyr) c.1306G>T (p.Asp436Tyr) c.1383G>T c.1207G>T (p.Asp403Tyr) n.1436G>T c.1462G>T (p.Asp488Tyr) c.763G>T (p.Asp255Tyr) | dbSNP |
2 | g.211702072C>G | CA350442401 | ERBB4 | c.1384G>C (p.Asp462His) c.1306G>C (p.Asp436His) c.1383G>C c.1207G>C (p.Asp403His) n.1436G>C c.1462G>C (p.Asp488His) c.763G>C (p.Asp255His) | dbSNP |
2 | g.211702072C>T | CA350442400 | ERBB4 | c.1384G>A (p.Asp462Asn) c.1306G>A (p.Asp436Asn) c.1383G>A c.1207G>A (p.Asp403Asn) n.1436G>A c.1462G>A (p.Asp488Asn) c.763G>A (p.Asp255Asn) | dbSNP |
2 | g.211702073A>C | CA431130885 | ERBB4 | c.1383T>G (p.Thr461=) c.1305T>G (p.Thr435=) c.1382T>G c.1206T>G (p.Thr402=) n.1435T>G c.1461T>G (p.Thr487=) c.762T>G (p.Thr254=) | |
2 | g.211702073A>G | CA431130886 | ERBB4 | c.1383T>C (p.Thr461=) c.1305T>C (p.Thr435=) c.1382T>C c.1206T>C (p.Thr402=) n.1435T>C c.1461T>C (p.Thr487=) c.762T>C (p.Thr254=) | |
2 | g.211702073A>T | CA431130887 | ERBB4 | c.1383T>A (p.Thr461=) c.1305T>A (p.Thr435=) c.1382T>A c.1206T>A (p.Thr402=) n.1435T>A c.1461T>A (p.Thr487=) c.762T>A (p.Thr254=) | |
2 | g.211702074G>A | CA350442402 | ERBB4 | c.1382C>T (p.Thr461Ile) c.1304C>T (p.Thr435Ile) c.1381C>T c.1205C>T (p.Thr402Ile) n.1434C>T c.1460C>T (p.Thr487Ile) c.761C>T (p.Thr254Ile) | dbSNP |
2 | g.211702074G>C | CA350442403 | ERBB4 | c.1382C>G (p.Thr461Ser) c.1304C>G (p.Thr435Ser) c.1381C>G c.1205C>G (p.Thr402Ser) n.1434C>G c.1460C>G (p.Thr487Ser) c.761C>G (p.Thr254Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.211702074G= | CA1325614780 | ERBB4 | c.1382C= (p.Thr461=) c.1304C= (p.Thr435=) c.1381C= c.1205C= (p.Thr402=) n.1434C= c.1460C= (p.Thr487=) c.761C= (p.Thr254=) | |
2 | g.211702074G>T | CA350442404 | ERBB4 | c.1382C>A (p.Thr461Asn) c.1304C>A (p.Thr435Asn) c.1381C>A c.1205C>A (p.Thr402Asn) n.1434C>A c.1460C>A (p.Thr487Asn) c.761C>A (p.Thr254Asn) | |
2 | g.211702075T>A | CA350442405 | ERBB4 | c.1381A>T (p.Thr461Ser) c.1303A>T (p.Thr435Ser) c.1380A>T c.1204A>T (p.Thr402Ser) n.1433A>T c.1459A>T (p.Thr487Ser) c.760A>T (p.Thr254Ser) | dbSNP |
2 | g.211702075T>C | CA350442406 | ERBB4 | c.1381A>G (p.Thr461Ala) c.1303A>G (p.Thr435Ala) c.1380A>G c.1204A>G (p.Thr402Ala) n.1433A>G c.1459A>G (p.Thr487Ala) c.760A>G (p.Thr254Ala) | dbSNP COSMIC |
2 | g.211702075T>G | CA350442407 | ERBB4 | c.1381A>C (p.Thr461Pro) c.1303A>C (p.Thr435Pro) c.1380A>C c.1204A>C (p.Thr402Pro) n.1433A>C c.1459A>C (p.Thr487Pro) c.760A>C (p.Thr254Pro) | |
2 | g.211702075T= | CA1325614781 | ERBB4 | c.1381A= (p.Thr461=) c.1303A= (p.Thr435=) c.1380A= c.1204A= (p.Thr402=) n.1433A= c.1459A= (p.Thr487=) c.760A= (p.Thr254=) | |
2 | g.211702076A>C | CA350442408 | ERBB4 | c.1380T>G (p.Ile460Met) c.1302T>G (p.Ile434Met) c.1379T>G c.1203T>G (p.Ile401Met) n.1432T>G c.1458T>G (p.Ile486Met) c.759T>G (p.Ile253Met) | |
2 | g.211702076A>G | CA431130899 | ERBB4 | c.1380T>C (p.Ile460=) c.1302T>C (p.Ile434=) c.1379T>C c.1203T>C (p.Ile401=) n.1432T>C c.1458T>C (p.Ile486=) c.759T>C (p.Ile253=) | |
2 | g.211702076A>T | CA431130900 | ERBB4 | c.1380T>A (p.Ile460=) c.1302T>A (p.Ile434=) c.1379T>A c.1203T>A (p.Ile401=) n.1432T>A c.1458T>A (p.Ile486=) c.759T>A (p.Ile253=) | |
2 | g.211702077A>C | CA350442409 | ERBB4 | c.1379T>G (p.Ile460Ser) c.1301T>G (p.Ile434Ser) c.1378T>G c.1202T>G (p.Ile401Ser) n.1431T>G c.1457T>G (p.Ile486Ser) c.758T>G (p.Ile253Ser) | |
2 | g.211702077A>G | CA350442410 | ERBB4 | c.1379T>C (p.Ile460Thr) c.1301T>C (p.Ile434Thr) c.1378T>C c.1202T>C (p.Ile401Thr) n.1431T>C c.1457T>C (p.Ile486Thr) c.758T>C (p.Ile253Thr) | |
2 | g.211702077A>T | CA350442411 | ERBB4 | c.1379T>A (p.Ile460Asn) c.1301T>A (p.Ile434Asn) c.1378T>A c.1202T>A (p.Ile401Asn) n.1431T>A c.1457T>A (p.Ile486Asn) c.758T>A (p.Ile253Asn) | |
2 | g.211702078T>A | CA350442412 | ERBB4 | c.1378A>T (p.Ile460Phe) c.1300A>T (p.Ile434Phe) c.1377A>T c.1201A>T (p.Ile401Phe) n.1430A>T c.1456A>T (p.Ile486Phe) c.757A>T (p.Ile253Phe) | dbSNP |
2 | g.211702078T>C | CA2088143 | ERBB4 | c.1378A>G (p.Ile460Val) c.1300A>G (p.Ile434Val) c.1377A>G c.1201A>G (p.Ile401Val) n.1430A>G c.1456A>G (p.Ile486Val) c.757A>G (p.Ile253Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.211702078T>G | CA2088144 | ERBB4 | c.1378A>C (p.Ile460Leu) c.1300A>C (p.Ile434Leu) c.1377A>C c.1201A>C (p.Ile401Leu) n.1430A>C c.1456A>C (p.Ile486Leu) c.757A>C (p.Ile253Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.211702078T= | CA1325614782 | ERBB4 | c.1378A= (p.Ile460=) c.1300A= (p.Ile434=) c.1377A= c.1201A= (p.Ile401=) n.1430A= c.1456A= (p.Ile486=) c.757A= (p.Ile253=) | |
2 | g.211702079A>C | CA350442413 | ERBB4 | c.1377T>G (p.Tyr459Ter) c.1299T>G (p.Tyr433Ter) c.1376T>G c.1200T>G (p.Tyr400Ter) n.1429T>G c.1455T>G (p.Tyr485Ter) c.756T>G (p.Tyr252Ter) | |
2 | g.211702079A>G | CA431130906 | ERBB4 | c.1377T>C (p.Tyr459=) c.1299T>C (p.Tyr433=) c.1376T>C c.1200T>C (p.Tyr400=) n.1429T>C c.1455T>C (p.Tyr485=) c.756T>C (p.Tyr252=) | |
2 | g.211702079A>T | CA350442414 | ERBB4 | c.1377T>A (p.Tyr459Ter) c.1299T>A (p.Tyr433Ter) c.1376T>A c.1200T>A (p.Tyr400Ter) n.1429T>A c.1455T>A (p.Tyr485Ter) c.756T>A (p.Tyr252Ter) | |
2 | g.211702080T>A | CA350442415 | ERBB4 | c.1376A>T (p.Tyr459Phe) c.1298A>T (p.Tyr433Phe) c.1375A>T c.1199A>T (p.Tyr400Phe) n.1428A>T c.1454A>T (p.Tyr485Phe) c.755A>T (p.Tyr252Phe) | dbSNP |
2 | g.211702080T>C | CA64751937 | ERBB4 | c.1376A>G (p.Tyr459Cys) c.1298A>G (p.Tyr433Cys) c.1375A>G c.1199A>G (p.Tyr400Cys) n.1428A>G c.1454A>G (p.Tyr485Cys) c.755A>G (p.Tyr252Cys) | dbSNP gnomAD v4 |
2 | g.211702080T>G | CA350442416 | ERBB4 | c.1376A>C (p.Tyr459Ser) c.1298A>C (p.Tyr433Ser) c.1375A>C c.1199A>C (p.Tyr400Ser) n.1428A>C c.1454A>C (p.Tyr485Ser) c.755A>C (p.Tyr252Ser) | |
2 | g.211702080T= | CA1325614783 | ERBB4 | c.1376A= (p.Tyr459=) c.1298A= (p.Tyr433=) c.1375A= c.1199A= (p.Tyr400=) n.1428A= c.1454A= (p.Tyr485=) c.755A= (p.Tyr252=) | |
2 | g.211702081A>C | CA350442417 | ERBB4 | c.1375T>G (p.Tyr459Asp) c.1297T>G (p.Tyr433Asp) c.1374T>G c.1198T>G (p.Tyr400Asp) n.1427T>G c.1453T>G (p.Tyr485Asp) c.754T>G (p.Tyr252Asp) | |
2 | g.211702081A>G | CA350442418 | ERBB4 | c.1375T>C (p.Tyr459His) c.1297T>C (p.Tyr433His) c.1374T>C c.1198T>C (p.Tyr400His) n.1427T>C c.1453T>C (p.Tyr485His) c.754T>C (p.Tyr252His) | |
2 | g.211702081A>T | CA350442419 | ERBB4 | c.1375T>A (p.Tyr459Asn) c.1297T>A (p.Tyr433Asn) c.1374T>A c.1198T>A (p.Tyr400Asn) n.1427T>A c.1453T>A (p.Tyr485Asn) c.754T>A (p.Tyr252Asn) | COSMIC |
2 | g.211702082G>A | CA431130913 | ERBB4 | c.1374C>T (p.Ile458=) c.1296C>T (p.Ile432=) c.1373C>T c.1197C>T (p.Ile399=) n.1426C>T c.1452C>T (p.Ile484=) c.753C>T (p.Ile251=) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.211702082G>C | CA350442420 | ERBB4 | c.1374C>G (p.Ile458Met) c.1296C>G (p.Ile432Met) c.1373C>G c.1197C>G (p.Ile399Met) n.1426C>G c.1452C>G (p.Ile484Met) c.753C>G (p.Ile251Met) | dbSNP |
2 | g.211702082G>T | CA431130916 | ERBB4 | c.1374C>A (p.Ile458=) c.1296C>A (p.Ile432=) c.1373C>A c.1197C>A (p.Ile399=) n.1426C>A c.1452C>A (p.Ile484=) c.753C>A (p.Ile251=) | |
2 | g.211702083A>C | CA350442421 | ERBB4 | c.1373T>G (p.Ile458Ser) c.1295T>G (p.Ile432Ser) c.1372T>G c.1196T>G (p.Ile399Ser) n.1425T>G c.1451T>G (p.Ile484Ser) c.752T>G (p.Ile251Ser) | |
2 | g.211702083A>G | CA350442422 | ERBB4 | c.1373T>C (p.Ile458Thr) c.1295T>C (p.Ile432Thr) c.1372T>C c.1196T>C (p.Ile399Thr) n.1425T>C c.1451T>C (p.Ile484Thr) c.752T>C (p.Ile251Thr) | |
2 | g.211702083A>T | CA350442423 | ERBB4 | c.1373T>A (p.Ile458Asn) c.1295T>A (p.Ile432Asn) c.1372T>A c.1196T>A (p.Ile399Asn) n.1425T>A c.1451T>A (p.Ile484Asn) c.752T>A (p.Ile251Asn) | |
2 | g.211702084T>A | CA350442426 | ERBB4 | c.1372A>T (p.Ile458Phe) c.1294A>T (p.Ile432Phe) c.1371A>T c.1195A>T (p.Ile399Phe) n.1424A>T c.1450A>T (p.Ile484Phe) c.751A>T (p.Ile251Phe) | dbSNP |
2 | g.211702084T>C | CA350442425 | ERBB4 | c.1372A>G (p.Ile458Val) c.1294A>G (p.Ile432Val) c.1371A>G c.1195A>G (p.Ile399Val) n.1424A>G c.1450A>G (p.Ile484Val) c.751A>G (p.Ile251Val) | gnomAD v4 |
2 | g.211702084T>G | CA350442424 | ERBB4 | c.1372A>C (p.Ile458Leu) c.1294A>C (p.Ile432Leu) c.1371A>C c.1195A>C (p.Ile399Leu) n.1424A>C c.1450A>C (p.Ile484Leu) c.751A>C (p.Ile251Leu) | |
2 | g.211702085del | CA2577232941 | ERBB4 | c.1371del (p.Asn457LysfsTer29) c.1293del (p.Asn431LysfsTer29) c.1370del c.1194del (p.Asn398LysfsTer29) n.1423del c.1449del (p.Asn483LysfsTer29) c.750del (p.Asn250LysfsTer29) | |
2 | g.211702085G>A | CA2088145 | ERBB4 | c.1371C>T (p.Asn457=) c.1293C>T (p.Asn431=) c.1370C>T c.1194C>T (p.Asn398=) n.1423C>T c.1449C>T (p.Asn483=) c.750C>T (p.Asn250=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.211702085G>C | CA350442427 | ERBB4 | c.1371C>G (p.Asn457Lys) c.1293C>G (p.Asn431Lys) c.1370C>G c.1194C>G (p.Asn398Lys) n.1423C>G c.1449C>G (p.Asn483Lys) c.750C>G (p.Asn250Lys) | |
2 | g.211702085G= | CA1325614784 | ERBB4 | c.1371C= (p.Asn457=) c.1293C= (p.Asn431=) c.1370C= c.1194C= (p.Asn398=) n.1423C= c.1449C= (p.Asn483=) c.750C= (p.Asn250=) | |
2 | g.211702085G>T | CA350442428 | ERBB4 | c.1371C>A (p.Asn457Lys) c.1293C>A (p.Asn431Lys) c.1370C>A c.1194C>A (p.Asn398Lys) n.1423C>A c.1449C>A (p.Asn483Lys) c.750C>A (p.Asn250Lys) | |
2 | g.211702086T>A | CA350442429 | ERBB4 | c.1370A>T (p.Asn457Ile) c.1292A>T (p.Asn431Ile) c.1369A>T c.1193A>T (p.Asn398Ile) n.1422A>T c.1448A>T (p.Asn483Ile) c.749A>T (p.Asn250Ile) | |
2 | g.211702086T>C | CA350442430 | ERBB4 | c.1370A>G (p.Asn457Ser) c.1292A>G (p.Asn431Ser) c.1369A>G c.1193A>G (p.Asn398Ser) n.1422A>G c.1448A>G (p.Asn483Ser) c.749A>G (p.Asn250Ser) | gnomAD v4 |
2 | g.211702086T>G | CA350442431 | ERBB4 | c.1370A>C (p.Asn457Thr) c.1292A>C (p.Asn431Thr) c.1369A>C c.1193A>C (p.Asn398Thr) n.1422A>C c.1448A>C (p.Asn483Thr) c.749A>C (p.Asn250Thr) | |
2 | g.211702087T>A | CA350442432 | ERBB4 | c.1369A>T (p.Asn457Tyr) c.1291A>T (p.Asn431Tyr) c.1368A>T c.1192A>T (p.Asn398Tyr) n.1421A>T c.1447A>T (p.Asn483Tyr) c.748A>T (p.Asn250Tyr) | |
2 | g.211702087T>C | CA350442433 | ERBB4 | c.1369A>G (p.Asn457Asp) c.1291A>G (p.Asn431Asp) c.1368A>G c.1192A>G (p.Asn398Asp) n.1421A>G c.1447A>G (p.Asn483Asp) c.748A>G (p.Asn250Asp) | |
2 | g.211702087T>G | CA350442434 | ERBB4 | c.1369A>C (p.Asn457His) c.1291A>C (p.Asn431His) c.1368A>C c.1192A>C (p.Asn398His) n.1421A>C c.1447A>C (p.Asn483His) c.748A>C (p.Asn250His) | |
2 | g.211702088T>A | CA431130928 | ERBB4 | c.1368A>T (p.Gly456=) c.1290A>T (p.Gly430=) c.1367A>T c.1191A>T (p.Gly397=) n.1420A>T c.1446A>T (p.Gly482=) c.747A>T (p.Gly249=) | |
2 | g.211702088T>C | CA431130930 | ERBB4 | c.1368A>G (p.Gly456=) c.1290A>G (p.Gly430=) c.1367A>G c.1191A>G (p.Gly397=) n.1420A>G c.1446A>G (p.Gly482=) c.747A>G (p.Gly249=) | |
2 | g.211702088T>G | CA431130932 | ERBB4 | c.1368A>C (p.Gly456=) c.1290A>C (p.Gly430=) c.1367A>C c.1191A>C (p.Gly397=) n.1420A>C c.1446A>C (p.Gly482=) c.747A>C (p.Gly249=) | |
2 | g.211702089C>A | CA350442435 | ERBB4 | c.1367G>T (p.Gly456Val) c.1289G>T (p.Gly430Val) c.1366G>T c.1190G>T (p.Gly397Val) n.1419G>T c.1445G>T (p.Gly482Val) c.746G>T (p.Gly249Val) | |
2 | g.211702089C>G | CA350442436 | ERBB4 | c.1367G>C (p.Gly456Ala) c.1289G>C (p.Gly430Ala) c.1366G>C c.1190G>C (p.Gly397Ala) n.1419G>C c.1445G>C (p.Gly482Ala) c.746G>C (p.Gly249Ala) | dbSNP |
2 | g.211702089C>T | CA350442437 | ERBB4 | c.1367G>A (p.Gly456Glu) c.1289G>A (p.Gly430Glu) c.1366G>A c.1190G>A (p.Gly397Glu) n.1419G>A c.1445G>A (p.Gly482Glu) c.746G>A (p.Gly249Glu) | COSMIC COSMIC |
2 | g.211702090C>A | CA350442440 | ERBB4 | c.1366G>T (p.Gly456Ter) c.1288G>T (p.Gly430Ter) c.1365G>T c.1189G>T (p.Gly397Ter) n.1418G>T c.1444G>T (p.Gly482Ter) c.745G>T (p.Gly249Ter) | |
2 | g.211702090C>G | CA350442439 | ERBB4 | c.1366G>C (p.Gly456Arg) c.1288G>C (p.Gly430Arg) c.1365G>C c.1189G>C (p.Gly397Arg) n.1418G>C c.1444G>C (p.Gly482Arg) c.745G>C (p.Gly249Arg) | dbSNP |
2 | g.211702090C>T | CA350442438 | ERBB4 | c.1366G>A (p.Gly456Arg) c.1288G>A (p.Gly430Arg) c.1365G>A c.1189G>A (p.Gly397Arg) n.1418G>A c.1444G>A (p.Gly482Arg) c.745G>A (p.Gly249Arg) | |
2 | g.211702091T>A | CA431130939 | ERBB4 | c.1365A>T (p.Ala455=) c.1287A>T (p.Ala429=) c.1364A>T c.1188A>T (p.Ala396=) n.1417A>T c.1443A>T (p.Ala481=) c.744A>T (p.Ala248=) | COSMIC COSMIC |
2 | g.211702091T>C | CA431130941 | ERBB4 | c.1365A>G (p.Ala455=) c.1287A>G (p.Ala429=) c.1364A>G c.1188A>G (p.Ala396=) n.1417A>G c.1443A>G (p.Ala481=) c.744A>G (p.Ala248=) | dbSNP gnomAD v4 |
2 | g.211702091T>G | CA431130943 | ERBB4 | c.1365A>C (p.Ala455=) c.1287A>C (p.Ala429=) c.1364A>C c.1188A>C (p.Ala396=) n.1417A>C c.1443A>C (p.Ala481=) c.744A>C (p.Ala248=) | |
2 | g.211702092G>A | CA350442441 | ERBB4 | c.1364C>T (p.Ala455Val) c.1286C>T (p.Ala429Val) c.1363C>T c.1187C>T (p.Ala396Val) n.1416C>T c.1442C>T (p.Ala481Val) c.743C>T (p.Ala248Val) | dbSNP gnomAD v2 |
2 | g.211702092G>C | CA350442442 | ERBB4 | c.1364C>G (p.Ala455Gly) c.1286C>G (p.Ala429Gly) c.1363C>G c.1187C>G (p.Ala396Gly) n.1416C>G c.1442C>G (p.Ala481Gly) c.743C>G (p.Ala248Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.211702092G= | CA1325614785 | ERBB4 | c.1364C= (p.Ala455=) c.1286C= (p.Ala429=) c.1363C= c.1187C= (p.Ala396=) n.1416C= c.1442C= (p.Ala481=) c.743C= (p.Ala248=) | |
2 | g.211702092G>T | CA350442443 | ERBB4 | c.1364C>A (p.Ala455Glu) c.1286C>A (p.Ala429Glu) c.1363C>A c.1187C>A (p.Ala396Glu) n.1416C>A c.1442C>A (p.Ala481Glu) c.743C>A (p.Ala248Glu) | |
2 | g.211702093C>A | CA350442444 | ERBB4 | c.1363G>T (p.Ala455Ser) c.1285G>T (p.Ala429Ser) c.1362G>T c.1186G>T (p.Ala396Ser) n.1415G>T c.1441G>T (p.Ala481Ser) c.742G>T (p.Ala248Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.211702093C= | CA1325614786 | ERBB4 | c.1363G= (p.Ala455=) c.1285G= (p.Ala429=) c.1362G= c.1186G= (p.Ala396=) n.1415G= c.1441G= (p.Ala481=) c.742G= (p.Ala248=) | |
2 | g.211702093C>G | CA350442445 | ERBB4 | c.1363G>C (p.Ala455Pro) c.1285G>C (p.Ala429Pro) c.1362G>C c.1186G>C (p.Ala396Pro) n.1415G>C c.1441G>C (p.Ala481Pro) c.742G>C (p.Ala248Pro) | dbSNP |
2 | g.211702093C>T | CA2088146 | ERBB4 | c.1363G>A (p.Ala455Thr) c.1285G>A (p.Ala429Thr) c.1362G>A c.1186G>A (p.Ala396Thr) n.1415G>A c.1441G>A (p.Ala481Thr) c.742G>A (p.Ala248Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.211702094G>A | CA2088147 | ERBB4 | c.1362C>T (p.Ser454=) c.1284C>T (p.Ser428=) c.1361C>T c.1185C>T (p.Ser395=) n.1414C>T c.1440C>T (p.Ser480=) c.741C>T (p.Ser247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.211702094G>C | CA350442446 | ERBB4 | c.1362C>G (p.Ser454Arg) c.1284C>G (p.Ser428Arg) c.1361C>G c.1185C>G (p.Ser395Arg) n.1414C>G c.1440C>G (p.Ser480Arg) c.741C>G (p.Ser247Arg) | dbSNP |
2 | g.211702094G= | CA1325614787 | ERBB4 | c.1362C= (p.Ser454=) c.1284C= (p.Ser428=) c.1361C= c.1185C= (p.Ser395=) n.1414C= c.1440C= (p.Ser480=) c.741C= (p.Ser247=) | |
2 | g.211702094G>T | CA350442447 | ERBB4 | c.1362C>A (p.Ser454Arg) c.1284C>A (p.Ser428Arg) c.1361C>A c.1185C>A (p.Ser395Arg) n.1414C>A c.1440C>A (p.Ser480Arg) c.741C>A (p.Ser247Arg) | |
2 | g.211702095C>A | CA350442448 | ERBB4 | c.1361G>T (p.Ser454Ile) c.1283G>T (p.Ser428Ile) c.1360G>T c.1184G>T (p.Ser395Ile) n.1413G>T c.1439G>T (p.Ser480Ile) c.740G>T (p.Ser247Ile) | dbSNP |
2 | g.211702095C= | CA1325614788 | ERBB4 | c.1361G= (p.Ser454=) c.1283G= (p.Ser428=) c.1360G= c.1184G= (p.Ser395=) n.1413G= c.1439G= (p.Ser480=) c.740G= (p.Ser247=) | |
2 | g.211702095C>G | CA350442449 | ERBB4 | c.1361G>C (p.Ser454Thr) c.1283G>C (p.Ser428Thr) c.1360G>C c.1184G>C (p.Ser395Thr) n.1413G>C c.1439G>C (p.Ser480Thr) c.740G>C (p.Ser247Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.211702095C>T | CA350442450 | ERBB4 | c.1361G>A (p.Ser454Asn) c.1283G>A (p.Ser428Asn) c.1360G>A c.1184G>A (p.Ser395Asn) n.1413G>A c.1439G>A (p.Ser480Asn) c.740G>A (p.Ser247Asn) | dbSNP |
2 | g.211702096T>A | CA350442453 | ERBB4 | c.1360A>T (p.Ser454Cys) c.1282A>T (p.Ser428Cys) c.1359A>T c.1183A>T (p.Ser395Cys) n.1412A>T c.1438A>T (p.Ser480Cys) c.739A>T (p.Ser247Cys) | |
2 | g.211702096T>C | CA350442452 | ERBB4 | c.1360A>G (p.Ser454Gly) c.1282A>G (p.Ser428Gly) c.1359A>G c.1183A>G (p.Ser395Gly) n.1412A>G c.1438A>G (p.Ser480Gly) c.739A>G (p.Ser247Gly) | |
2 | g.211702096T>G | CA350442451 | ERBB4 | c.1360A>C (p.Ser454Arg) c.1282A>C (p.Ser428Arg) c.1359A>C c.1183A>C (p.Ser395Arg) n.1412A>C c.1438A>C (p.Ser480Arg) c.739A>C (p.Ser247Arg) | |
2 | g.211702097G>A | CA431130977 | ERBB4 | c.1359C>T (p.Ile453=) c.1281C>T (p.Ile427=) c.1358C>T c.1182C>T (p.Ile394=) n.1411C>T c.1437C>T (p.Ile479=) c.738C>T (p.Ile246=) | dbSNP |
2 | g.211702097G>C | CA350442454 | ERBB4 | c.1359C>G (p.Ile453Met) c.1281C>G (p.Ile427Met) c.1358C>G c.1182C>G (p.Ile394Met) n.1411C>G c.1437C>G (p.Ile479Met) c.738C>G (p.Ile246Met) | |
2 | g.211702097G>T | CA431130978 | ERBB4 | c.1359C>A (p.Ile453=) c.1281C>A (p.Ile427=) c.1358C>A c.1182C>A (p.Ile394=) n.1411C>A c.1437C>A (p.Ile479=) c.738C>A (p.Ile246=) | |
2 | g.211702098A>C | CA350442456 | ERBB4 | c.1358T>G (p.Ile453Ser) c.1280T>G (p.Ile427Ser) c.1357T>G c.1181T>G (p.Ile394Ser) n.1410T>G c.1436T>G (p.Ile479Ser) c.737T>G (p.Ile246Ser) | |
2 | g.211702098A>G | CA350442455 | ERBB4 | c.1358T>C (p.Ile453Thr) c.1280T>C (p.Ile427Thr) c.1357T>C c.1181T>C (p.Ile394Thr) n.1410T>C c.1436T>C (p.Ile479Thr) c.737T>C (p.Ile246Thr) | |
2 | g.211702098A>T | CA350442457 | ERBB4 | c.1358T>A (p.Ile453Asn) c.1280T>A (p.Ile427Asn) c.1357T>A c.1181T>A (p.Ile394Asn) n.1410T>A c.1436T>A (p.Ile479Asn) c.737T>A (p.Ile246Asn) | dbSNP |
2 | g.211702099T>A | CA2088148 | ERBB4 | c.1357A>T (p.Ile453Phe) c.1279A>T (p.Ile427Phe) c.1356A>T c.1180A>T (p.Ile394Phe) n.1409A>T c.1435A>T (p.Ile479Phe) c.736A>T (p.Ile246Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.211702099T>C | CA350442458 | ERBB4 | c.1357A>G (p.Ile453Val) c.1279A>G (p.Ile427Val) c.1356A>G c.1180A>G (p.Ile394Val) n.1409A>G c.1435A>G (p.Ile479Val) c.736A>G (p.Ile246Val) | |
2 | g.211702099T>G | CA350442459 | ERBB4 | c.1357A>C (p.Ile453Leu) c.1279A>C (p.Ile427Leu) c.1356A>C c.1180A>C (p.Ile394Leu) n.1409A>C c.1435A>C (p.Ile479Leu) c.736A>C (p.Ile246Leu) | |
2 | g.211702099T= | CA1325614789 | ERBB4 | c.1357A= (p.Ile453=) c.1279A= (p.Ile427=) c.1356A= c.1180A= (p.Ile394=) n.1409A= c.1435A= (p.Ile479=) c.736A= (p.Ile246=) | |
2 | g.211702100T>A | CA350442460 | ERBB4 | c.1356A>T (p.Glu452Asp) c.1278A>T (p.Glu426Asp) c.1355A>T c.1179A>T (p.Glu393Asp) n.1408A>T c.1434A>T (p.Glu478Asp) c.735A>T (p.Glu245Asp) | dbSNP |
2 | g.211702100T>C | CA431130987 | ERBB4 | c.1356A>G (p.Glu452=) c.1278A>G (p.Glu426=) c.1355A>G c.1179A>G (p.Glu393=) n.1408A>G c.1434A>G (p.Glu478=) c.735A>G (p.Glu245=) | |
2 | g.211702100T>G | CA350442461 | ERBB4 | c.1356A>C (p.Glu452Asp) c.1278A>C (p.Glu426Asp) c.1355A>C c.1179A>C (p.Glu393Asp) n.1408A>C c.1434A>C (p.Glu478Asp) c.735A>C (p.Glu245Asp) | |
2 | g.211702100T= | CA1325614790 | ERBB4 | c.1356A= (p.Glu452=) c.1278A= (p.Glu426=) c.1355A= c.1179A= (p.Glu393=) n.1408A= c.1434A= (p.Glu478=) c.735A= (p.Glu245=) | |
2 | g.211702101T>A | CA350442462 | ERBB4 | c.1355A>T (p.Glu452Val) c.1277A>T (p.Glu426Val) c.1354A>T c.1178A>T (p.Glu393Val) n.1407A>T c.1433A>T (p.Glu478Val) c.734A>T (p.Glu245Val) | |
2 | g.211702101T>C | CA350442463 | ERBB4 | c.1355A>G (p.Glu452Gly) c.1277A>G (p.Glu426Gly) c.1354A>G c.1178A>G (p.Glu393Gly) n.1407A>G c.1433A>G (p.Glu478Gly) c.734A>G (p.Glu245Gly) | |
2 | g.211702101T>G | CA350442464 | ERBB4 | c.1355A>C (p.Glu452Ala) c.1277A>C (p.Glu426Ala) c.1354A>C c.1178A>C (p.Glu393Ala) n.1407A>C c.1433A>C (p.Glu478Ala) c.734A>C (p.Glu245Ala) | |
2 | g.211702102C>A | CA350442465 | ERBB4 | c.1354G>T (p.Glu452Ter) c.1276G>T (p.Glu426Ter) c.1353G>T c.1177G>T (p.Glu393Ter) n.1406G>T c.1432G>T (p.Glu478Ter) c.733G>T (p.Glu245Ter) | dbSNP |
2 | g.211702102C= | CA1325614791 | ERBB4 | c.1354G= (p.Glu452=) c.1276G= (p.Glu426=) c.1353G= c.1177G= (p.Glu393=) n.1406G= c.1432G= (p.Glu478=) c.733G= (p.Glu245=) | |
2 | g.211702102C>G | CA350442466 | ERBB4 | c.1354G>C (p.Glu452Gln) c.1276G>C (p.Glu426Gln) c.1353G>C c.1177G>C (p.Glu393Gln) n.1406G>C c.1432G>C (p.Glu478Gln) c.733G>C (p.Glu245Gln) | |
2 | g.211702102C>T | CA16602262 | ERBB4 | c.1354G>A (p.Glu452Lys) c.1276G>A (p.Glu426Lys) c.1353G>A c.1177G>A (p.Glu393Lys) n.1406G>A c.1432G>A (p.Glu478Lys) c.733G>A (p.Glu245Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.211702103C>A | CA350442468 | ERBB4 | c.1353G>T (p.Lys451Asn) c.1275G>T (p.Lys425Asn) c.1352G>T c.1176G>T (p.Lys392Asn) n.1405G>T c.1431G>T (p.Lys477Asn) c.732G>T (p.Lys244Asn) | |
2 | g.211702103C>G | CA350442467 | ERBB4 | c.1353G>C (p.Lys451Asn) c.1275G>C (p.Lys425Asn) c.1352G>C c.1176G>C (p.Lys392Asn) n.1405G>C c.1431G>C (p.Lys477Asn) c.732G>C (p.Lys244Asn) | |
2 | g.211702103C>T | CA431130996 | ERBB4 | c.1353G>A (p.Lys451=) c.1275G>A (p.Lys425=) c.1352G>A c.1176G>A (p.Lys392=) n.1405G>A c.1431G>A (p.Lys477=) c.732G>A (p.Lys244=) | dbSNP COSMIC COSMIC |
2 | g.211702104T>A | CA350442469 | ERBB4 | c.1352A>T (p.Lys451Met) c.1274A>T (p.Lys425Met) c.1351A>T c.1175A>T (p.Lys392Met) n.1404A>T c.1430A>T (p.Lys477Met) c.731A>T (p.Lys244Met) | |
2 | g.211702104T>C | CA350442470 | ERBB4 | c.1352A>G (p.Lys451Arg) c.1274A>G (p.Lys425Arg) c.1351A>G c.1175A>G (p.Lys392Arg) n.1404A>G c.1430A>G (p.Lys477Arg) c.731A>G (p.Lys244Arg) | gnomAD v4 |
2 | g.211702104T>G | CA350442471 | ERBB4 | c.1352A>C (p.Lys451Thr) c.1274A>C (p.Lys425Thr) c.1351A>C c.1175A>C (p.Lys392Thr) n.1404A>C c.1430A>C (p.Lys477Thr) c.731A>C (p.Lys244Thr) | |
2 | g.211702105T>A | CA350442472 | ERBB4 | c.1351A>T (p.Lys451Ter) c.1273A>T (p.Lys425Ter) c.1350A>T c.1174A>T (p.Lys392Ter) n.1403A>T c.1429A>T (p.Lys477Ter) c.730A>T (p.Lys244Ter) | |
2 | g.211702105T>C | CA350442473 | ERBB4 | c.1351A>G (p.Lys451Glu) c.1273A>G (p.Lys425Glu) c.1350A>G c.1174A>G (p.Lys392Glu) n.1403A>G c.1429A>G (p.Lys477Glu) c.730A>G (p.Lys244Glu) | |
2 | g.211702105T>G | CA350442474 | ERBB4 | c.1351A>C (p.Lys451Gln) c.1273A>C (p.Lys425Gln) c.1350A>C c.1174A>C (p.Lys392Gln) n.1403A>C c.1429A>C (p.Lys477Gln) c.730A>C (p.Lys244Gln) | |
2 | g.211702106C>A | CA431131007 | ERBB4 | c.1350G>T (p.Leu450=) c.1272G>T (p.Leu424=) c.1349G>T c.1173G>T (p.Leu391=) n.1402G>T c.1428G>T (p.Leu476=) c.729G>T (p.Leu243=) | dbSNP |
2 | g.211702106C= | CA1325614792 | ERBB4 | c.1350G= (p.Leu450=) c.1272G= (p.Leu424=) c.1349G= c.1173G= (p.Leu391=) n.1402G= c.1428G= (p.Leu476=) c.729G= (p.Leu243=) | |
2 | g.211702106C>G | CA431131012 | ERBB4 | c.1350G>C (p.Leu450=) c.1272G>C (p.Leu424=) c.1349G>C c.1173G>C (p.Leu391=) n.1402G>C c.1428G>C (p.Leu476=) c.729G>C (p.Leu243=) | dbSNP |
2 | g.211702106C>T | CA64751959 | ERBB4 | c.1350G>A (p.Leu450=) c.1272G>A (p.Leu424=) c.1349G>A c.1173G>A (p.Leu391=) n.1402G>A c.1428G>A (p.Leu476=) c.729G>A (p.Leu243=) | dbSNP COSMIC |
2 | g.211702107A>C | CA350442475 | ERBB4 | c.1349T>G (p.Leu450Arg) c.1271T>G (p.Leu424Arg) c.1348T>G c.1172T>G (p.Leu391Arg) n.1401T>G c.1427T>G (p.Leu476Arg) c.728T>G (p.Leu243Arg) | |
2 | g.211702107A>G | CA350442476 | ERBB4 | c.1349T>C (p.Leu450Pro) c.1271T>C (p.Leu424Pro) c.1348T>C c.1172T>C (p.Leu391Pro) n.1401T>C c.1427T>C (p.Leu476Pro) c.728T>C (p.Leu243Pro) | |
2 | g.211702107A>T | CA350442477 | ERBB4 | c.1349T>A (p.Leu450Gln) c.1271T>A (p.Leu424Gln) c.1348T>A c.1172T>A (p.Leu391Gln) n.1401T>A c.1427T>A (p.Leu476Gln) c.728T>A (p.Leu243Gln) |