WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127048585T>A | CA119460 | BIN1 | c.1306A>T (p.Lys436Ter) c.1723A>T (p.Lys575Ter) c.1435A>T (p.Lys479Ter) c.1498A>T (p.Lys500Ter) c.1171A>T (p.Lys391Ter) c.1462A>T (p.Lys488Ter) c.1594A>T (p.Lys532Ter) c.1216A>T (p.Lys406Ter) c.1390A>T (p.Lys464Ter) c.1369A>T (p.Lys457Ter) c.1261A>T (p.Lys421Ter) n.4589A>T c.1768A>T (p.Lys590Ter) c.1675A>T (p.Lys559Ter) c.1630A>T (p.Lys544Ter) c.1603A>T (p.Lys535Ter) c.1354A>T (p.Lys452Ter) c.1099A>T (p.Lys367Ter) c.1636A>T (p.Lys546Ter) c.1558A>T (p.Lys520Ter) c.1528A>T (p.Lys510Ter) c.1507A>T (p.Lys503Ter) c.1483A>T (p.Lys495Ter) c.1438A>T (p.Lys480Ter) c.1399A>T (p.Lys467Ter) c.1309A>T (p.Lys437Ter) c.1264A>T (p.Lys422Ter) c.1687A>T (p.Lys563Ter) c.1642A>T (p.Lys548Ter) c.1696A>T (p.Lys566Ter) c.1393A>T (p.Lys465Ter) c.1300A>T (p.Lys434Ter) c.1297A>T (p.Lys433Ter) c.1228A>T (p.Lys410Ter) c.1192A>T (p.Lys398Ter) c.1189A>T (p.Lys397Ter) c.1096A>T (p.Lys366Ter) c.1051A>T (p.Lys351Ter) | ClinVar dbSNP |
| 2 | g.127048585T>C | CA348373555 | BIN1 | c.1306A>G (p.Lys436Glu) c.1723A>G (p.Lys575Glu) c.1435A>G (p.Lys479Glu) c.1498A>G (p.Lys500Glu) c.1171A>G (p.Lys391Glu) c.1462A>G (p.Lys488Glu) c.1594A>G (p.Lys532Glu) c.1216A>G (p.Lys406Glu) c.1390A>G (p.Lys464Glu) c.1369A>G (p.Lys457Glu) c.1261A>G (p.Lys421Glu) n.4589A>G c.1768A>G (p.Lys590Glu) c.1675A>G (p.Lys559Glu) c.1630A>G (p.Lys544Glu) c.1603A>G (p.Lys535Glu) c.1354A>G (p.Lys452Glu) c.1099A>G (p.Lys367Glu) c.1636A>G (p.Lys546Glu) c.1558A>G (p.Lys520Glu) c.1528A>G (p.Lys510Glu) c.1507A>G (p.Lys503Glu) c.1483A>G (p.Lys495Glu) c.1438A>G (p.Lys480Glu) c.1399A>G (p.Lys467Glu) c.1309A>G (p.Lys437Glu) c.1264A>G (p.Lys422Glu) c.1687A>G (p.Lys563Glu) c.1642A>G (p.Lys548Glu) c.1696A>G (p.Lys566Glu) c.1393A>G (p.Lys465Glu) c.1300A>G (p.Lys434Glu) c.1297A>G (p.Lys433Glu) c.1228A>G (p.Lys410Glu) c.1192A>G (p.Lys398Glu) c.1189A>G (p.Lys397Glu) c.1096A>G (p.Lys366Glu) c.1051A>G (p.Lys351Glu) | gnomAD v4 |
| 2 | g.127048585T>G | CA348373556 | BIN1 | c.1306A>C (p.Lys436Gln) c.1723A>C (p.Lys575Gln) c.1435A>C (p.Lys479Gln) c.1498A>C (p.Lys500Gln) c.1171A>C (p.Lys391Gln) c.1462A>C (p.Lys488Gln) c.1594A>C (p.Lys532Gln) c.1216A>C (p.Lys406Gln) c.1390A>C (p.Lys464Gln) c.1369A>C (p.Lys457Gln) c.1261A>C (p.Lys421Gln) n.4589A>C c.1768A>C (p.Lys590Gln) c.1675A>C (p.Lys559Gln) c.1630A>C (p.Lys544Gln) c.1603A>C (p.Lys535Gln) c.1354A>C (p.Lys452Gln) c.1099A>C (p.Lys367Gln) c.1636A>C (p.Lys546Gln) c.1558A>C (p.Lys520Gln) c.1528A>C (p.Lys510Gln) c.1507A>C (p.Lys503Gln) c.1483A>C (p.Lys495Gln) c.1438A>C (p.Lys480Gln) c.1399A>C (p.Lys467Gln) c.1309A>C (p.Lys437Gln) c.1264A>C (p.Lys422Gln) c.1687A>C (p.Lys563Gln) c.1642A>C (p.Lys548Gln) c.1696A>C (p.Lys566Gln) c.1393A>C (p.Lys465Gln) c.1300A>C (p.Lys434Gln) c.1297A>C (p.Lys433Gln) c.1228A>C (p.Lys410Gln) c.1192A>C (p.Lys398Gln) c.1189A>C (p.Lys397Gln) c.1096A>C (p.Lys366Gln) c.1051A>C (p.Lys351Gln) | |
| 2 | g.127048585T= | CA1286710727 | BIN1 | c.1306A= (p.Lys436=) c.1723A= (p.Lys575=) c.1435A= (p.Lys479=) c.1498A= (p.Lys500=) c.1171A= (p.Lys391=) c.1462A= (p.Lys488=) c.1594A= (p.Lys532=) c.1216A= (p.Lys406=) c.1390A= (p.Lys464=) c.1369A= (p.Lys457=) c.1261A= (p.Lys421=) n.4589A= c.1768A= (p.Lys590=) c.1675A= (p.Lys559=) c.1630A= (p.Lys544=) c.1603A= (p.Lys535=) c.1354A= (p.Lys452=) c.1099A= (p.Lys367=) c.1636A= (p.Lys546=) c.1558A= (p.Lys520=) c.1528A= (p.Lys510=) c.1507A= (p.Lys503=) c.1483A= (p.Lys495=) c.1438A= (p.Lys480=) c.1399A= (p.Lys467=) c.1309A= (p.Lys437=) c.1264A= (p.Lys422=) c.1687A= (p.Lys563=) c.1642A= (p.Lys548=) c.1696A= (p.Lys566=) c.1393A= (p.Lys465=) c.1300A= (p.Lys434=) c.1297A= (p.Lys433=) c.1228A= (p.Lys410=) c.1192A= (p.Lys398=) c.1189A= (p.Lys397=) c.1096A= (p.Lys366=) c.1051A= (p.Lys351=) | |
| 2 | g.127048586G>A | CA428593676 | BIN1 | c.1305C>T (p.His435=) c.1722C>T (p.His574=) c.1434C>T (p.His478=) c.1497C>T (p.His499=) c.1170C>T (p.His390=) c.1461C>T (p.His487=) c.1593C>T (p.His531=) c.1215C>T (p.His405=) c.1389C>T (p.His463=) c.1368C>T (p.His456=) c.1260C>T (p.His420=) n.4588C>T c.1767C>T (p.His589=) c.1674C>T (p.His558=) c.1629C>T (p.His543=) c.1602C>T (p.His534=) c.1353C>T (p.His451=) c.1098C>T (p.His366=) c.1635C>T (p.His545=) c.1557C>T (p.His519=) c.1527C>T (p.His509=) c.1506C>T (p.His502=) c.1482C>T (p.His494=) c.1437C>T (p.His479=) c.1398C>T (p.His466=) c.1308C>T (p.His436=) c.1263C>T (p.His421=) c.1686C>T (p.His562=) c.1641C>T (p.His547=) c.1695C>T (p.His565=) c.1392C>T (p.His464=) c.1299C>T (p.His433=) c.1296C>T (p.His432=) c.1227C>T (p.His409=) c.1191C>T (p.His397=) c.1188C>T (p.His396=) c.1095C>T (p.His365=) c.1050C>T (p.His350=) | |
| 2 | g.127048586G>C | CA348373560 | BIN1 | c.1305C>G (p.His435Gln) c.1722C>G (p.His574Gln) c.1434C>G (p.His478Gln) c.1497C>G (p.His499Gln) c.1170C>G (p.His390Gln) c.1461C>G (p.His487Gln) c.1593C>G (p.His531Gln) c.1215C>G (p.His405Gln) c.1389C>G (p.His463Gln) c.1368C>G (p.His456Gln) c.1260C>G (p.His420Gln) n.4588C>G c.1767C>G (p.His589Gln) c.1674C>G (p.His558Gln) c.1629C>G (p.His543Gln) c.1602C>G (p.His534Gln) c.1353C>G (p.His451Gln) c.1098C>G (p.His366Gln) c.1635C>G (p.His545Gln) c.1557C>G (p.His519Gln) c.1527C>G (p.His509Gln) c.1506C>G (p.His502Gln) c.1482C>G (p.His494Gln) c.1437C>G (p.His479Gln) c.1398C>G (p.His466Gln) c.1308C>G (p.His436Gln) c.1263C>G (p.His421Gln) c.1686C>G (p.His562Gln) c.1641C>G (p.His547Gln) c.1695C>G (p.His565Gln) c.1392C>G (p.His464Gln) c.1299C>G (p.His433Gln) c.1296C>G (p.His432Gln) c.1227C>G (p.His409Gln) c.1191C>G (p.His397Gln) c.1188C>G (p.His396Gln) c.1095C>G (p.His365Gln) c.1050C>G (p.His350Gln) | |
| 2 | g.127048586G= | CA1286710728 | BIN1 | c.1305C= (p.His435=) c.1722C= (p.His574=) c.1434C= (p.His478=) c.1497C= (p.His499=) c.1170C= (p.His390=) c.1461C= (p.His487=) c.1593C= (p.His531=) c.1215C= (p.His405=) c.1389C= (p.His463=) c.1368C= (p.His456=) c.1260C= (p.His420=) n.4588C= c.1767C= (p.His589=) c.1674C= (p.His558=) c.1629C= (p.His543=) c.1602C= (p.His534=) c.1353C= (p.His451=) c.1098C= (p.His366=) c.1635C= (p.His545=) c.1557C= (p.His519=) c.1527C= (p.His509=) c.1506C= (p.His502=) c.1482C= (p.His494=) c.1437C= (p.His479=) c.1398C= (p.His466=) c.1308C= (p.His436=) c.1263C= (p.His421=) c.1686C= (p.His562=) c.1641C= (p.His547=) c.1695C= (p.His565=) c.1392C= (p.His464=) c.1299C= (p.His433=) c.1296C= (p.His432=) c.1227C= (p.His409=) c.1191C= (p.His397=) c.1188C= (p.His396=) c.1095C= (p.His365=) c.1050C= (p.His350=) | |
| 2 | g.127048586G>T | CA348373562 | BIN1 | c.1305C>A (p.His435Gln) c.1722C>A (p.His574Gln) c.1434C>A (p.His478Gln) c.1497C>A (p.His499Gln) c.1170C>A (p.His390Gln) c.1461C>A (p.His487Gln) c.1593C>A (p.His531Gln) c.1215C>A (p.His405Gln) c.1389C>A (p.His463Gln) c.1368C>A (p.His456Gln) c.1260C>A (p.His420Gln) n.4588C>A c.1767C>A (p.His589Gln) c.1674C>A (p.His558Gln) c.1629C>A (p.His543Gln) c.1602C>A (p.His534Gln) c.1353C>A (p.His451Gln) c.1098C>A (p.His366Gln) c.1635C>A (p.His545Gln) c.1557C>A (p.His519Gln) c.1527C>A (p.His509Gln) c.1506C>A (p.His502Gln) c.1482C>A (p.His494Gln) c.1437C>A (p.His479Gln) c.1398C>A (p.His466Gln) c.1308C>A (p.His436Gln) c.1263C>A (p.His421Gln) c.1686C>A (p.His562Gln) c.1641C>A (p.His547Gln) c.1695C>A (p.His565Gln) c.1392C>A (p.His464Gln) c.1299C>A (p.His433Gln) c.1296C>A (p.His432Gln) c.1227C>A (p.His409Gln) c.1191C>A (p.His397Gln) c.1188C>A (p.His396Gln) c.1095C>A (p.His365Gln) c.1050C>A (p.His350Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127048587T>A | CA348373563 | BIN1 | c.1304A>T (p.His435Leu) c.1721A>T (p.His574Leu) c.1433A>T (p.His478Leu) c.1496A>T (p.His499Leu) c.1169A>T (p.His390Leu) c.1460A>T (p.His487Leu) c.1592A>T (p.His531Leu) c.1214A>T (p.His405Leu) c.1388A>T (p.His463Leu) c.1367A>T (p.His456Leu) c.1259A>T (p.His420Leu) n.4587A>T c.1766A>T (p.His589Leu) c.1673A>T (p.His558Leu) c.1628A>T (p.His543Leu) c.1601A>T (p.His534Leu) c.1352A>T (p.His451Leu) c.1097A>T (p.His366Leu) c.1634A>T (p.His545Leu) c.1556A>T (p.His519Leu) c.1526A>T (p.His509Leu) c.1505A>T (p.His502Leu) c.1481A>T (p.His494Leu) c.1436A>T (p.His479Leu) c.1397A>T (p.His466Leu) c.1307A>T (p.His436Leu) c.1262A>T (p.His421Leu) c.1685A>T (p.His562Leu) c.1640A>T (p.His547Leu) c.1694A>T (p.His565Leu) c.1391A>T (p.His464Leu) c.1298A>T (p.His433Leu) c.1295A>T (p.His432Leu) c.1226A>T (p.His409Leu) c.1190A>T (p.His397Leu) c.1187A>T (p.His396Leu) c.1094A>T (p.His365Leu) c.1049A>T (p.His350Leu) | |
| 2 | g.127048587T>C | CA348373567 | BIN1 | c.1304A>G (p.His435Arg) c.1721A>G (p.His574Arg) c.1433A>G (p.His478Arg) c.1496A>G (p.His499Arg) c.1169A>G (p.His390Arg) c.1460A>G (p.His487Arg) c.1592A>G (p.His531Arg) c.1214A>G (p.His405Arg) c.1388A>G (p.His463Arg) c.1367A>G (p.His456Arg) c.1259A>G (p.His420Arg) n.4587A>G c.1766A>G (p.His589Arg) c.1673A>G (p.His558Arg) c.1628A>G (p.His543Arg) c.1601A>G (p.His534Arg) c.1352A>G (p.His451Arg) c.1097A>G (p.His366Arg) c.1634A>G (p.His545Arg) c.1556A>G (p.His519Arg) c.1526A>G (p.His509Arg) c.1505A>G (p.His502Arg) c.1481A>G (p.His494Arg) c.1436A>G (p.His479Arg) c.1397A>G (p.His466Arg) c.1307A>G (p.His436Arg) c.1262A>G (p.His421Arg) c.1685A>G (p.His562Arg) c.1640A>G (p.His547Arg) c.1694A>G (p.His565Arg) c.1391A>G (p.His464Arg) c.1298A>G (p.His433Arg) c.1295A>G (p.His432Arg) c.1226A>G (p.His409Arg) c.1190A>G (p.His397Arg) c.1187A>G (p.His396Arg) c.1094A>G (p.His365Arg) c.1049A>G (p.His350Arg) | dbSNP |
| 2 | g.127048587T>G | CA348373568 | BIN1 | c.1304A>C (p.His435Pro) c.1721A>C (p.His574Pro) c.1433A>C (p.His478Pro) c.1496A>C (p.His499Pro) c.1169A>C (p.His390Pro) c.1460A>C (p.His487Pro) c.1592A>C (p.His531Pro) c.1214A>C (p.His405Pro) c.1388A>C (p.His463Pro) c.1367A>C (p.His456Pro) c.1259A>C (p.His420Pro) n.4587A>C c.1766A>C (p.His589Pro) c.1673A>C (p.His558Pro) c.1628A>C (p.His543Pro) c.1601A>C (p.His534Pro) c.1352A>C (p.His451Pro) c.1097A>C (p.His366Pro) c.1634A>C (p.His545Pro) c.1556A>C (p.His519Pro) c.1526A>C (p.His509Pro) c.1505A>C (p.His502Pro) c.1481A>C (p.His494Pro) c.1436A>C (p.His479Pro) c.1397A>C (p.His466Pro) c.1307A>C (p.His436Pro) c.1262A>C (p.His421Pro) c.1685A>C (p.His562Pro) c.1640A>C (p.His547Pro) c.1694A>C (p.His565Pro) c.1391A>C (p.His464Pro) c.1298A>C (p.His433Pro) c.1295A>C (p.His432Pro) c.1226A>C (p.His409Pro) c.1190A>C (p.His397Pro) c.1187A>C (p.His396Pro) c.1094A>C (p.His365Pro) c.1049A>C (p.His350Pro) | |
| 2 | g.127048587T= | CA1286710729 | BIN1 | c.1304A= (p.His435=) c.1721A= (p.His574=) c.1433A= (p.His478=) c.1496A= (p.His499=) c.1169A= (p.His390=) c.1460A= (p.His487=) c.1592A= (p.His531=) c.1214A= (p.His405=) c.1388A= (p.His463=) c.1367A= (p.His456=) c.1259A= (p.His420=) n.4587A= c.1766A= (p.His589=) c.1673A= (p.His558=) c.1628A= (p.His543=) c.1601A= (p.His534=) c.1352A= (p.His451=) c.1097A= (p.His366=) c.1634A= (p.His545=) c.1556A= (p.His519=) c.1526A= (p.His509=) c.1505A= (p.His502=) c.1481A= (p.His494=) c.1436A= (p.His479=) c.1397A= (p.His466=) c.1307A= (p.His436=) c.1262A= (p.His421=) c.1685A= (p.His562=) c.1640A= (p.His547=) c.1694A= (p.His565=) c.1391A= (p.His464=) c.1298A= (p.His433=) c.1295A= (p.His432=) c.1226A= (p.His409=) c.1190A= (p.His397=) c.1187A= (p.His396=) c.1094A= (p.His365=) c.1049A= (p.His350=) | |
| 2 | g.127048588G>A | CA348373570 | BIN1 | c.1303C>T (p.His435Tyr) c.1720C>T (p.His574Tyr) c.1432C>T (p.His478Tyr) c.1495C>T (p.His499Tyr) c.1168C>T (p.His390Tyr) c.1459C>T (p.His487Tyr) c.1591C>T (p.His531Tyr) c.1213C>T (p.His405Tyr) c.1387C>T (p.His463Tyr) c.1366C>T (p.His456Tyr) c.1258C>T (p.His420Tyr) n.4586C>T c.1765C>T (p.His589Tyr) c.1672C>T (p.His558Tyr) c.1627C>T (p.His543Tyr) c.1600C>T (p.His534Tyr) c.1351C>T (p.His451Tyr) c.1096C>T (p.His366Tyr) c.1633C>T (p.His545Tyr) c.1555C>T (p.His519Tyr) c.1525C>T (p.His509Tyr) c.1504C>T (p.His502Tyr) c.1480C>T (p.His494Tyr) c.1435C>T (p.His479Tyr) c.1396C>T (p.His466Tyr) c.1306C>T (p.His436Tyr) c.1261C>T (p.His421Tyr) c.1684C>T (p.His562Tyr) c.1639C>T (p.His547Tyr) c.1693C>T (p.His565Tyr) c.1390C>T (p.His464Tyr) c.1297C>T (p.His433Tyr) c.1294C>T (p.His432Tyr) c.1225C>T (p.His409Tyr) c.1189C>T (p.His397Tyr) c.1186C>T (p.His396Tyr) c.1093C>T (p.His365Tyr) c.1048C>T (p.His350Tyr) | |
| 2 | g.127048588G>C | CA348373574 | BIN1 | c.1303C>G (p.His435Asp) c.1720C>G (p.His574Asp) c.1432C>G (p.His478Asp) c.1495C>G (p.His499Asp) c.1168C>G (p.His390Asp) c.1459C>G (p.His487Asp) c.1591C>G (p.His531Asp) c.1213C>G (p.His405Asp) c.1387C>G (p.His463Asp) c.1366C>G (p.His456Asp) c.1258C>G (p.His420Asp) n.4586C>G c.1765C>G (p.His589Asp) c.1672C>G (p.His558Asp) c.1627C>G (p.His543Asp) c.1600C>G (p.His534Asp) c.1351C>G (p.His451Asp) c.1096C>G (p.His366Asp) c.1633C>G (p.His545Asp) c.1555C>G (p.His519Asp) c.1525C>G (p.His509Asp) c.1504C>G (p.His502Asp) c.1480C>G (p.His494Asp) c.1435C>G (p.His479Asp) c.1396C>G (p.His466Asp) c.1306C>G (p.His436Asp) c.1261C>G (p.His421Asp) c.1684C>G (p.His562Asp) c.1639C>G (p.His547Asp) c.1693C>G (p.His565Asp) c.1390C>G (p.His464Asp) c.1297C>G (p.His433Asp) c.1294C>G (p.His432Asp) c.1225C>G (p.His409Asp) c.1189C>G (p.His397Asp) c.1186C>G (p.His396Asp) c.1093C>G (p.His365Asp) c.1048C>G (p.His350Asp) | |
| 2 | g.127048588G>T | CA348373572 | BIN1 | c.1303C>A (p.His435Asn) c.1720C>A (p.His574Asn) c.1432C>A (p.His478Asn) c.1495C>A (p.His499Asn) c.1168C>A (p.His390Asn) c.1459C>A (p.His487Asn) c.1591C>A (p.His531Asn) c.1213C>A (p.His405Asn) c.1387C>A (p.His463Asn) c.1366C>A (p.His456Asn) c.1258C>A (p.His420Asn) n.4586C>A c.1765C>A (p.His589Asn) c.1672C>A (p.His558Asn) c.1627C>A (p.His543Asn) c.1600C>A (p.His534Asn) c.1351C>A (p.His451Asn) c.1096C>A (p.His366Asn) c.1633C>A (p.His545Asn) c.1555C>A (p.His519Asn) c.1525C>A (p.His509Asn) c.1504C>A (p.His502Asn) c.1480C>A (p.His494Asn) c.1435C>A (p.His479Asn) c.1396C>A (p.His466Asn) c.1306C>A (p.His436Asn) c.1261C>A (p.His421Asn) c.1684C>A (p.His562Asn) c.1639C>A (p.His547Asn) c.1693C>A (p.His565Asn) c.1390C>A (p.His464Asn) c.1297C>A (p.His433Asn) c.1294C>A (p.His432Asn) c.1225C>A (p.His409Asn) c.1189C>A (p.His397Asn) c.1186C>A (p.His396Asn) c.1093C>A (p.His365Asn) c.1048C>A (p.His350Asn) | |
| 2 | g.127048589C>A | CA348373575 | BIN1 | c.1302G>T (p.Gln434His) c.1719G>T (p.Gln573His) c.1431G>T (p.Gln477His) c.1494G>T (p.Gln498His) c.1167G>T (p.Gln389His) c.1458G>T (p.Gln486His) c.1590G>T (p.Gln530His) c.1212G>T (p.Gln404His) c.1386G>T (p.Gln462His) c.1365G>T (p.Gln455His) c.1257G>T (p.Gln419His) n.4585G>T c.1764G>T (p.Gln588His) c.1671G>T (p.Gln557His) c.1626G>T (p.Gln542His) c.1599G>T (p.Gln533His) c.1350G>T (p.Gln450His) c.1095G>T (p.Gln365His) c.1632G>T (p.Gln544His) c.1554G>T (p.Gln518His) c.1524G>T (p.Gln508His) c.1503G>T (p.Gln501His) c.1479G>T (p.Gln493His) c.1434G>T (p.Gln478His) c.1395G>T (p.Gln465His) c.1305G>T (p.Gln435His) c.1260G>T (p.Gln420His) c.1683G>T (p.Gln561His) c.1638G>T (p.Gln546His) c.1692G>T (p.Gln564His) c.1389G>T (p.Gln463His) c.1296G>T (p.Gln432His) c.1293G>T (p.Gln431His) c.1224G>T (p.Gln408His) c.1188G>T (p.Gln396His) c.1185G>T (p.Gln395His) c.1092G>T (p.Gln364His) c.1047G>T (p.Gln349His) | COSMIC COSMIC |
| 2 | g.127048589C>G | CA348373577 | BIN1 | c.1302G>C (p.Gln434His) c.1719G>C (p.Gln573His) c.1431G>C (p.Gln477His) c.1494G>C (p.Gln498His) c.1167G>C (p.Gln389His) c.1458G>C (p.Gln486His) c.1590G>C (p.Gln530His) c.1212G>C (p.Gln404His) c.1386G>C (p.Gln462His) c.1365G>C (p.Gln455His) c.1257G>C (p.Gln419His) n.4585G>C c.1764G>C (p.Gln588His) c.1671G>C (p.Gln557His) c.1626G>C (p.Gln542His) c.1599G>C (p.Gln533His) c.1350G>C (p.Gln450His) c.1095G>C (p.Gln365His) c.1632G>C (p.Gln544His) c.1554G>C (p.Gln518His) c.1524G>C (p.Gln508His) c.1503G>C (p.Gln501His) c.1479G>C (p.Gln493His) c.1434G>C (p.Gln478His) c.1395G>C (p.Gln465His) c.1305G>C (p.Gln435His) c.1260G>C (p.Gln420His) c.1683G>C (p.Gln561His) c.1638G>C (p.Gln546His) c.1692G>C (p.Gln564His) c.1389G>C (p.Gln463His) c.1296G>C (p.Gln432His) c.1293G>C (p.Gln431His) c.1224G>C (p.Gln408His) c.1188G>C (p.Gln396His) c.1185G>C (p.Gln395His) c.1092G>C (p.Gln364His) c.1047G>C (p.Gln349His) | |
| 2 | g.127048589C>T | CA428593680 | BIN1 | c.1302G>A (p.Gln434=) c.1719G>A (p.Gln573=) c.1431G>A (p.Gln477=) c.1494G>A (p.Gln498=) c.1167G>A (p.Gln389=) c.1458G>A (p.Gln486=) c.1590G>A (p.Gln530=) c.1212G>A (p.Gln404=) c.1386G>A (p.Gln462=) c.1365G>A (p.Gln455=) c.1257G>A (p.Gln419=) n.4585G>A c.1764G>A (p.Gln588=) c.1671G>A (p.Gln557=) c.1626G>A (p.Gln542=) c.1599G>A (p.Gln533=) c.1350G>A (p.Gln450=) c.1095G>A (p.Gln365=) c.1632G>A (p.Gln544=) c.1554G>A (p.Gln518=) c.1524G>A (p.Gln508=) c.1503G>A (p.Gln501=) c.1479G>A (p.Gln493=) c.1434G>A (p.Gln478=) c.1395G>A (p.Gln465=) c.1305G>A (p.Gln435=) c.1260G>A (p.Gln420=) c.1683G>A (p.Gln561=) c.1638G>A (p.Gln546=) c.1692G>A (p.Gln564=) c.1389G>A (p.Gln463=) c.1296G>A (p.Gln432=) c.1293G>A (p.Gln431=) c.1224G>A (p.Gln408=) c.1188G>A (p.Gln396=) c.1185G>A (p.Gln395=) c.1092G>A (p.Gln364=) c.1047G>A (p.Gln349=) | |
| 2 | g.127048590T>A | CA348373578 | BIN1 | c.1301A>T (p.Gln434Leu) c.1718A>T (p.Gln573Leu) c.1430A>T (p.Gln477Leu) c.1493A>T (p.Gln498Leu) c.1166A>T (p.Gln389Leu) c.1457A>T (p.Gln486Leu) c.1589A>T (p.Gln530Leu) c.1211A>T (p.Gln404Leu) c.1385A>T (p.Gln462Leu) c.1364A>T (p.Gln455Leu) c.1256A>T (p.Gln419Leu) n.4584A>T c.1763A>T (p.Gln588Leu) c.1670A>T (p.Gln557Leu) c.1625A>T (p.Gln542Leu) c.1598A>T (p.Gln533Leu) c.1349A>T (p.Gln450Leu) c.1094A>T (p.Gln365Leu) c.1631A>T (p.Gln544Leu) c.1553A>T (p.Gln518Leu) c.1523A>T (p.Gln508Leu) c.1502A>T (p.Gln501Leu) c.1478A>T (p.Gln493Leu) c.1433A>T (p.Gln478Leu) c.1394A>T (p.Gln465Leu) c.1304A>T (p.Gln435Leu) c.1259A>T (p.Gln420Leu) c.1682A>T (p.Gln561Leu) c.1637A>T (p.Gln546Leu) c.1691A>T (p.Gln564Leu) c.1388A>T (p.Gln463Leu) c.1295A>T (p.Gln432Leu) c.1292A>T (p.Gln431Leu) c.1223A>T (p.Gln408Leu) c.1187A>T (p.Gln396Leu) c.1184A>T (p.Gln395Leu) c.1091A>T (p.Gln364Leu) c.1046A>T (p.Gln349Leu) | gnomAD v4 |
| 2 | g.127048590T>C | CA348373580 | BIN1 | c.1301A>G (p.Gln434Arg) c.1718A>G (p.Gln573Arg) c.1430A>G (p.Gln477Arg) c.1493A>G (p.Gln498Arg) c.1166A>G (p.Gln389Arg) c.1457A>G (p.Gln486Arg) c.1589A>G (p.Gln530Arg) c.1211A>G (p.Gln404Arg) c.1385A>G (p.Gln462Arg) c.1364A>G (p.Gln455Arg) c.1256A>G (p.Gln419Arg) n.4584A>G c.1763A>G (p.Gln588Arg) c.1670A>G (p.Gln557Arg) c.1625A>G (p.Gln542Arg) c.1598A>G (p.Gln533Arg) c.1349A>G (p.Gln450Arg) c.1094A>G (p.Gln365Arg) c.1631A>G (p.Gln544Arg) c.1553A>G (p.Gln518Arg) c.1523A>G (p.Gln508Arg) c.1502A>G (p.Gln501Arg) c.1478A>G (p.Gln493Arg) c.1433A>G (p.Gln478Arg) c.1394A>G (p.Gln465Arg) c.1304A>G (p.Gln435Arg) c.1259A>G (p.Gln420Arg) c.1682A>G (p.Gln561Arg) c.1637A>G (p.Gln546Arg) c.1691A>G (p.Gln564Arg) c.1388A>G (p.Gln463Arg) c.1295A>G (p.Gln432Arg) c.1292A>G (p.Gln431Arg) c.1223A>G (p.Gln408Arg) c.1187A>G (p.Gln396Arg) c.1184A>G (p.Gln395Arg) c.1091A>G (p.Gln364Arg) c.1046A>G (p.Gln349Arg) | |
| 2 | g.127048590T>G | CA348373582 | BIN1 | c.1301A>C (p.Gln434Pro) c.1718A>C (p.Gln573Pro) c.1430A>C (p.Gln477Pro) c.1493A>C (p.Gln498Pro) c.1166A>C (p.Gln389Pro) c.1457A>C (p.Gln486Pro) c.1589A>C (p.Gln530Pro) c.1211A>C (p.Gln404Pro) c.1385A>C (p.Gln462Pro) c.1364A>C (p.Gln455Pro) c.1256A>C (p.Gln419Pro) n.4584A>C c.1763A>C (p.Gln588Pro) c.1670A>C (p.Gln557Pro) c.1625A>C (p.Gln542Pro) c.1598A>C (p.Gln533Pro) c.1349A>C (p.Gln450Pro) c.1094A>C (p.Gln365Pro) c.1631A>C (p.Gln544Pro) c.1553A>C (p.Gln518Pro) c.1523A>C (p.Gln508Pro) c.1502A>C (p.Gln501Pro) c.1478A>C (p.Gln493Pro) c.1433A>C (p.Gln478Pro) c.1394A>C (p.Gln465Pro) c.1304A>C (p.Gln435Pro) c.1259A>C (p.Gln420Pro) c.1682A>C (p.Gln561Pro) c.1637A>C (p.Gln546Pro) c.1691A>C (p.Gln564Pro) c.1388A>C (p.Gln463Pro) c.1295A>C (p.Gln432Pro) c.1292A>C (p.Gln431Pro) c.1223A>C (p.Gln408Pro) c.1187A>C (p.Gln396Pro) c.1184A>C (p.Gln395Pro) c.1091A>C (p.Gln364Pro) c.1046A>C (p.Gln349Pro) | |
| 2 | g.127048591G>A | CA348373584 | BIN1 | c.1300C>T (p.Gln434Ter) c.1717C>T (p.Gln573Ter) c.1429C>T (p.Gln477Ter) c.1492C>T (p.Gln498Ter) c.1165C>T (p.Gln389Ter) c.1456C>T (p.Gln486Ter) c.1588C>T (p.Gln530Ter) c.1210C>T (p.Gln404Ter) c.1384C>T (p.Gln462Ter) c.1363C>T (p.Gln455Ter) c.1255C>T (p.Gln419Ter) n.4583C>T c.1762C>T (p.Gln588Ter) c.1669C>T (p.Gln557Ter) c.1624C>T (p.Gln542Ter) c.1597C>T (p.Gln533Ter) c.1348C>T (p.Gln450Ter) c.1093C>T (p.Gln365Ter) c.1630C>T (p.Gln544Ter) c.1552C>T (p.Gln518Ter) c.1522C>T (p.Gln508Ter) c.1501C>T (p.Gln501Ter) c.1477C>T (p.Gln493Ter) c.1432C>T (p.Gln478Ter) c.1393C>T (p.Gln465Ter) c.1303C>T (p.Gln435Ter) c.1258C>T (p.Gln420Ter) c.1681C>T (p.Gln561Ter) c.1636C>T (p.Gln546Ter) c.1690C>T (p.Gln564Ter) c.1387C>T (p.Gln463Ter) c.1294C>T (p.Gln432Ter) c.1291C>T (p.Gln431Ter) c.1222C>T (p.Gln408Ter) c.1186C>T (p.Gln396Ter) c.1183C>T (p.Gln395Ter) c.1090C>T (p.Gln364Ter) c.1045C>T (p.Gln349Ter) | |
| 2 | g.127048591G>C | CA348373586 | BIN1 | c.1300C>G (p.Gln434Glu) c.1717C>G (p.Gln573Glu) c.1429C>G (p.Gln477Glu) c.1492C>G (p.Gln498Glu) c.1165C>G (p.Gln389Glu) c.1456C>G (p.Gln486Glu) c.1588C>G (p.Gln530Glu) c.1210C>G (p.Gln404Glu) c.1384C>G (p.Gln462Glu) c.1363C>G (p.Gln455Glu) c.1255C>G (p.Gln419Glu) n.4583C>G c.1762C>G (p.Gln588Glu) c.1669C>G (p.Gln557Glu) c.1624C>G (p.Gln542Glu) c.1597C>G (p.Gln533Glu) c.1348C>G (p.Gln450Glu) c.1093C>G (p.Gln365Glu) c.1630C>G (p.Gln544Glu) c.1552C>G (p.Gln518Glu) c.1522C>G (p.Gln508Glu) c.1501C>G (p.Gln501Glu) c.1477C>G (p.Gln493Glu) c.1432C>G (p.Gln478Glu) c.1393C>G (p.Gln465Glu) c.1303C>G (p.Gln435Glu) c.1258C>G (p.Gln420Glu) c.1681C>G (p.Gln561Glu) c.1636C>G (p.Gln546Glu) c.1690C>G (p.Gln564Glu) c.1387C>G (p.Gln463Glu) c.1294C>G (p.Gln432Glu) c.1291C>G (p.Gln431Glu) c.1222C>G (p.Gln408Glu) c.1186C>G (p.Gln396Glu) c.1183C>G (p.Gln395Glu) c.1090C>G (p.Gln364Glu) c.1045C>G (p.Gln349Glu) | |
| 2 | g.127048591G>T | CA348373587 | BIN1 | c.1300C>A (p.Gln434Lys) c.1717C>A (p.Gln573Lys) c.1429C>A (p.Gln477Lys) c.1492C>A (p.Gln498Lys) c.1165C>A (p.Gln389Lys) c.1456C>A (p.Gln486Lys) c.1588C>A (p.Gln530Lys) c.1210C>A (p.Gln404Lys) c.1384C>A (p.Gln462Lys) c.1363C>A (p.Gln455Lys) c.1255C>A (p.Gln419Lys) n.4583C>A c.1762C>A (p.Gln588Lys) c.1669C>A (p.Gln557Lys) c.1624C>A (p.Gln542Lys) c.1597C>A (p.Gln533Lys) c.1348C>A (p.Gln450Lys) c.1093C>A (p.Gln365Lys) c.1630C>A (p.Gln544Lys) c.1552C>A (p.Gln518Lys) c.1522C>A (p.Gln508Lys) c.1501C>A (p.Gln501Lys) c.1477C>A (p.Gln493Lys) c.1432C>A (p.Gln478Lys) c.1393C>A (p.Gln465Lys) c.1303C>A (p.Gln435Lys) c.1258C>A (p.Gln420Lys) c.1681C>A (p.Gln561Lys) c.1636C>A (p.Gln546Lys) c.1690C>A (p.Gln564Lys) c.1387C>A (p.Gln463Lys) c.1294C>A (p.Gln432Lys) c.1291C>A (p.Gln431Lys) c.1222C>A (p.Gln408Lys) c.1186C>A (p.Gln396Lys) c.1183C>A (p.Gln395Lys) c.1090C>A (p.Gln364Lys) c.1045C>A (p.Gln349Lys) | |
| 2 | g.127048592G>A | CA428593684 | BIN1 | c.1299C>T (p.Asn433=) c.1716C>T (p.Asn572=) c.1428C>T (p.Asn476=) c.1491C>T (p.Asn497=) c.1164C>T (p.Asn388=) c.1455C>T (p.Asn485=) c.1587C>T (p.Asn529=) c.1209C>T (p.Asn403=) c.1383C>T (p.Asn461=) c.1362C>T (p.Asn454=) c.1254C>T (p.Asn418=) n.4582C>T c.1761C>T (p.Asn587=) c.1668C>T (p.Asn556=) c.1623C>T (p.Asn541=) c.1596C>T (p.Asn532=) c.1347C>T (p.Asn449=) c.1092C>T (p.Asn364=) c.1629C>T (p.Asn543=) c.1551C>T (p.Asn517=) c.1521C>T (p.Asn507=) c.1500C>T (p.Asn500=) c.1476C>T (p.Asn492=) c.1431C>T (p.Asn477=) c.1392C>T (p.Asn464=) c.1302C>T (p.Asn434=) c.1257C>T (p.Asn419=) c.1680C>T (p.Asn560=) c.1635C>T (p.Asn545=) c.1689C>T (p.Asn563=) c.1386C>T (p.Asn462=) c.1293C>T (p.Asn431=) c.1290C>T (p.Asn430=) c.1221C>T (p.Asn407=) c.1185C>T (p.Asn395=) c.1182C>T (p.Asn394=) c.1089C>T (p.Asn363=) c.1044C>T (p.Asn348=) | |
| 2 | g.127048592G>C | CA348373588 | BIN1 | c.1299C>G (p.Asn433Lys) c.1716C>G (p.Asn572Lys) c.1428C>G (p.Asn476Lys) c.1491C>G (p.Asn497Lys) c.1164C>G (p.Asn388Lys) c.1455C>G (p.Asn485Lys) c.1587C>G (p.Asn529Lys) c.1209C>G (p.Asn403Lys) c.1383C>G (p.Asn461Lys) c.1362C>G (p.Asn454Lys) c.1254C>G (p.Asn418Lys) n.4582C>G c.1761C>G (p.Asn587Lys) c.1668C>G (p.Asn556Lys) c.1623C>G (p.Asn541Lys) c.1596C>G (p.Asn532Lys) c.1347C>G (p.Asn449Lys) c.1092C>G (p.Asn364Lys) c.1629C>G (p.Asn543Lys) c.1551C>G (p.Asn517Lys) c.1521C>G (p.Asn507Lys) c.1500C>G (p.Asn500Lys) c.1476C>G (p.Asn492Lys) c.1431C>G (p.Asn477Lys) c.1392C>G (p.Asn464Lys) c.1302C>G (p.Asn434Lys) c.1257C>G (p.Asn419Lys) c.1680C>G (p.Asn560Lys) c.1635C>G (p.Asn545Lys) c.1689C>G (p.Asn563Lys) c.1386C>G (p.Asn462Lys) c.1293C>G (p.Asn431Lys) c.1290C>G (p.Asn430Lys) c.1221C>G (p.Asn407Lys) c.1185C>G (p.Asn395Lys) c.1182C>G (p.Asn394Lys) c.1089C>G (p.Asn363Lys) c.1044C>G (p.Asn348Lys) | |
| 2 | g.127048592G= | CA1286710730 | BIN1 | c.1299C= (p.Asn433=) c.1716C= (p.Asn572=) c.1428C= (p.Asn476=) c.1491C= (p.Asn497=) c.1164C= (p.Asn388=) c.1455C= (p.Asn485=) c.1587C= (p.Asn529=) c.1209C= (p.Asn403=) c.1383C= (p.Asn461=) c.1362C= (p.Asn454=) c.1254C= (p.Asn418=) n.4582C= c.1761C= (p.Asn587=) c.1668C= (p.Asn556=) c.1623C= (p.Asn541=) c.1596C= (p.Asn532=) c.1347C= (p.Asn449=) c.1092C= (p.Asn364=) c.1629C= (p.Asn543=) c.1551C= (p.Asn517=) c.1521C= (p.Asn507=) c.1500C= (p.Asn500=) c.1476C= (p.Asn492=) c.1431C= (p.Asn477=) c.1392C= (p.Asn464=) c.1302C= (p.Asn434=) c.1257C= (p.Asn419=) c.1680C= (p.Asn560=) c.1635C= (p.Asn545=) c.1689C= (p.Asn563=) c.1386C= (p.Asn462=) c.1293C= (p.Asn431=) c.1290C= (p.Asn430=) c.1221C= (p.Asn407=) c.1185C= (p.Asn395=) c.1182C= (p.Asn394=) c.1089C= (p.Asn363=) c.1044C= (p.Asn348=) | |
| 2 | g.127048592G>T | CA348373589 | BIN1 | c.1299C>A (p.Asn433Lys) c.1716C>A (p.Asn572Lys) c.1428C>A (p.Asn476Lys) c.1491C>A (p.Asn497Lys) c.1164C>A (p.Asn388Lys) c.1455C>A (p.Asn485Lys) c.1587C>A (p.Asn529Lys) c.1209C>A (p.Asn403Lys) c.1383C>A (p.Asn461Lys) c.1362C>A (p.Asn454Lys) c.1254C>A (p.Asn418Lys) n.4582C>A c.1761C>A (p.Asn587Lys) c.1668C>A (p.Asn556Lys) c.1623C>A (p.Asn541Lys) c.1596C>A (p.Asn532Lys) c.1347C>A (p.Asn449Lys) c.1092C>A (p.Asn364Lys) c.1629C>A (p.Asn543Lys) c.1551C>A (p.Asn517Lys) c.1521C>A (p.Asn507Lys) c.1500C>A (p.Asn500Lys) c.1476C>A (p.Asn492Lys) c.1431C>A (p.Asn477Lys) c.1392C>A (p.Asn464Lys) c.1302C>A (p.Asn434Lys) c.1257C>A (p.Asn419Lys) c.1680C>A (p.Asn560Lys) c.1635C>A (p.Asn545Lys) c.1689C>A (p.Asn563Lys) c.1386C>A (p.Asn462Lys) c.1293C>A (p.Asn431Lys) c.1290C>A (p.Asn430Lys) c.1221C>A (p.Asn407Lys) c.1185C>A (p.Asn395Lys) c.1182C>A (p.Asn394Lys) c.1089C>A (p.Asn363Lys) c.1044C>A (p.Asn348Lys) | dbSNP |
| 2 | g.127048593T>A | CA348373595 | BIN1 | c.1298A>T (p.Asn433Ile) c.1715A>T (p.Asn572Ile) c.1427A>T (p.Asn476Ile) c.1490A>T (p.Asn497Ile) c.1163A>T (p.Asn388Ile) c.1454A>T (p.Asn485Ile) c.1586A>T (p.Asn529Ile) c.1208A>T (p.Asn403Ile) c.1382A>T (p.Asn461Ile) c.1361A>T (p.Asn454Ile) c.1253A>T (p.Asn418Ile) n.4581A>T c.1760A>T (p.Asn587Ile) c.1667A>T (p.Asn556Ile) c.1622A>T (p.Asn541Ile) c.1595A>T (p.Asn532Ile) c.1346A>T (p.Asn449Ile) c.1091A>T (p.Asn364Ile) c.1628A>T (p.Asn543Ile) c.1550A>T (p.Asn517Ile) c.1520A>T (p.Asn507Ile) c.1499A>T (p.Asn500Ile) c.1475A>T (p.Asn492Ile) c.1430A>T (p.Asn477Ile) c.1391A>T (p.Asn464Ile) c.1301A>T (p.Asn434Ile) c.1256A>T (p.Asn419Ile) c.1679A>T (p.Asn560Ile) c.1634A>T (p.Asn545Ile) c.1688A>T (p.Asn563Ile) c.1385A>T (p.Asn462Ile) c.1292A>T (p.Asn431Ile) c.1289A>T (p.Asn430Ile) c.1220A>T (p.Asn407Ile) c.1184A>T (p.Asn395Ile) c.1181A>T (p.Asn394Ile) c.1088A>T (p.Asn363Ile) c.1043A>T (p.Asn348Ile) | |
| 2 | g.127048593T>C | CA348373593 | BIN1 | c.1298A>G (p.Asn433Ser) c.1715A>G (p.Asn572Ser) c.1427A>G (p.Asn476Ser) c.1490A>G (p.Asn497Ser) c.1163A>G (p.Asn388Ser) c.1454A>G (p.Asn485Ser) c.1586A>G (p.Asn529Ser) c.1208A>G (p.Asn403Ser) c.1382A>G (p.Asn461Ser) c.1361A>G (p.Asn454Ser) c.1253A>G (p.Asn418Ser) n.4581A>G c.1760A>G (p.Asn587Ser) c.1667A>G (p.Asn556Ser) c.1622A>G (p.Asn541Ser) c.1595A>G (p.Asn532Ser) c.1346A>G (p.Asn449Ser) c.1091A>G (p.Asn364Ser) c.1628A>G (p.Asn543Ser) c.1550A>G (p.Asn517Ser) c.1520A>G (p.Asn507Ser) c.1499A>G (p.Asn500Ser) c.1475A>G (p.Asn492Ser) c.1430A>G (p.Asn477Ser) c.1391A>G (p.Asn464Ser) c.1301A>G (p.Asn434Ser) c.1256A>G (p.Asn419Ser) c.1679A>G (p.Asn560Ser) c.1634A>G (p.Asn545Ser) c.1688A>G (p.Asn563Ser) c.1385A>G (p.Asn462Ser) c.1292A>G (p.Asn431Ser) c.1289A>G (p.Asn430Ser) c.1220A>G (p.Asn407Ser) c.1184A>G (p.Asn395Ser) c.1181A>G (p.Asn394Ser) c.1088A>G (p.Asn363Ser) c.1043A>G (p.Asn348Ser) | |
| 2 | g.127048593T>G | CA348373591 | BIN1 | c.1298A>C (p.Asn433Thr) c.1715A>C (p.Asn572Thr) c.1427A>C (p.Asn476Thr) c.1490A>C (p.Asn497Thr) c.1163A>C (p.Asn388Thr) c.1454A>C (p.Asn485Thr) c.1586A>C (p.Asn529Thr) c.1208A>C (p.Asn403Thr) c.1382A>C (p.Asn461Thr) c.1361A>C (p.Asn454Thr) c.1253A>C (p.Asn418Thr) n.4581A>C c.1760A>C (p.Asn587Thr) c.1667A>C (p.Asn556Thr) c.1622A>C (p.Asn541Thr) c.1595A>C (p.Asn532Thr) c.1346A>C (p.Asn449Thr) c.1091A>C (p.Asn364Thr) c.1628A>C (p.Asn543Thr) c.1550A>C (p.Asn517Thr) c.1520A>C (p.Asn507Thr) c.1499A>C (p.Asn500Thr) c.1475A>C (p.Asn492Thr) c.1430A>C (p.Asn477Thr) c.1391A>C (p.Asn464Thr) c.1301A>C (p.Asn434Thr) c.1256A>C (p.Asn419Thr) c.1679A>C (p.Asn560Thr) c.1634A>C (p.Asn545Thr) c.1688A>C (p.Asn563Thr) c.1385A>C (p.Asn462Thr) c.1292A>C (p.Asn431Thr) c.1289A>C (p.Asn430Thr) c.1220A>C (p.Asn407Thr) c.1184A>C (p.Asn395Thr) c.1181A>C (p.Asn394Thr) c.1088A>C (p.Asn363Thr) c.1043A>C (p.Asn348Thr) | |
| 2 | g.127048594T>A | CA348373600 | BIN1 | c.1297A>T (p.Asn433Tyr) c.1714A>T (p.Asn572Tyr) c.1426A>T (p.Asn476Tyr) c.1489A>T (p.Asn497Tyr) c.1162A>T (p.Asn388Tyr) c.1453A>T (p.Asn485Tyr) c.1585A>T (p.Asn529Tyr) c.1207A>T (p.Asn403Tyr) c.1381A>T (p.Asn461Tyr) c.1360A>T (p.Asn454Tyr) c.1252A>T (p.Asn418Tyr) n.4580A>T c.1759A>T (p.Asn587Tyr) c.1666A>T (p.Asn556Tyr) c.1621A>T (p.Asn541Tyr) c.1594A>T (p.Asn532Tyr) c.1345A>T (p.Asn449Tyr) c.1090A>T (p.Asn364Tyr) c.1627A>T (p.Asn543Tyr) c.1549A>T (p.Asn517Tyr) c.1519A>T (p.Asn507Tyr) c.1498A>T (p.Asn500Tyr) c.1474A>T (p.Asn492Tyr) c.1429A>T (p.Asn477Tyr) c.1390A>T (p.Asn464Tyr) c.1300A>T (p.Asn434Tyr) c.1255A>T (p.Asn419Tyr) c.1678A>T (p.Asn560Tyr) c.1633A>T (p.Asn545Tyr) c.1687A>T (p.Asn563Tyr) c.1384A>T (p.Asn462Tyr) c.1291A>T (p.Asn431Tyr) c.1288A>T (p.Asn430Tyr) c.1219A>T (p.Asn407Tyr) c.1183A>T (p.Asn395Tyr) c.1180A>T (p.Asn394Tyr) c.1087A>T (p.Asn363Tyr) c.1042A>T (p.Asn348Tyr) | |
| 2 | g.127048594T>C | CA348373602 | BIN1 | c.1297A>G (p.Asn433Asp) c.1714A>G (p.Asn572Asp) c.1426A>G (p.Asn476Asp) c.1489A>G (p.Asn497Asp) c.1162A>G (p.Asn388Asp) c.1453A>G (p.Asn485Asp) c.1585A>G (p.Asn529Asp) c.1207A>G (p.Asn403Asp) c.1381A>G (p.Asn461Asp) c.1360A>G (p.Asn454Asp) c.1252A>G (p.Asn418Asp) n.4580A>G c.1759A>G (p.Asn587Asp) c.1666A>G (p.Asn556Asp) c.1621A>G (p.Asn541Asp) c.1594A>G (p.Asn532Asp) c.1345A>G (p.Asn449Asp) c.1090A>G (p.Asn364Asp) c.1627A>G (p.Asn543Asp) c.1549A>G (p.Asn517Asp) c.1519A>G (p.Asn507Asp) c.1498A>G (p.Asn500Asp) c.1474A>G (p.Asn492Asp) c.1429A>G (p.Asn477Asp) c.1390A>G (p.Asn464Asp) c.1300A>G (p.Asn434Asp) c.1255A>G (p.Asn419Asp) c.1678A>G (p.Asn560Asp) c.1633A>G (p.Asn545Asp) c.1687A>G (p.Asn563Asp) c.1384A>G (p.Asn462Asp) c.1291A>G (p.Asn431Asp) c.1288A>G (p.Asn430Asp) c.1219A>G (p.Asn407Asp) c.1183A>G (p.Asn395Asp) c.1180A>G (p.Asn394Asp) c.1087A>G (p.Asn363Asp) c.1042A>G (p.Asn348Asp) | |
| 2 | g.127048594T>G | CA348373603 | BIN1 | c.1297A>C (p.Asn433His) c.1714A>C (p.Asn572His) c.1426A>C (p.Asn476His) c.1489A>C (p.Asn497His) c.1162A>C (p.Asn388His) c.1453A>C (p.Asn485His) c.1585A>C (p.Asn529His) c.1207A>C (p.Asn403His) c.1381A>C (p.Asn461His) c.1360A>C (p.Asn454His) c.1252A>C (p.Asn418His) n.4580A>C c.1759A>C (p.Asn587His) c.1666A>C (p.Asn556His) c.1621A>C (p.Asn541His) c.1594A>C (p.Asn532His) c.1345A>C (p.Asn449His) c.1090A>C (p.Asn364His) c.1627A>C (p.Asn543His) c.1549A>C (p.Asn517His) c.1519A>C (p.Asn507His) c.1498A>C (p.Asn500His) c.1474A>C (p.Asn492His) c.1429A>C (p.Asn477His) c.1390A>C (p.Asn464His) c.1300A>C (p.Asn434His) c.1255A>C (p.Asn419His) c.1678A>C (p.Asn560His) c.1633A>C (p.Asn545His) c.1687A>C (p.Asn563His) c.1384A>C (p.Asn462His) c.1291A>C (p.Asn431His) c.1288A>C (p.Asn430His) c.1219A>C (p.Asn407His) c.1183A>C (p.Asn395His) c.1180A>C (p.Asn394His) c.1087A>C (p.Asn363His) c.1042A>C (p.Asn348His) | |
| 2 | g.127048595C>A | CA348373605 | BIN1 | c.1296G>T (p.Trp432Cys) c.1713G>T (p.Trp571Cys) c.1425G>T (p.Trp475Cys) c.1488G>T (p.Trp496Cys) c.1161G>T (p.Trp387Cys) c.1452G>T (p.Trp484Cys) c.1584G>T (p.Trp528Cys) c.1206G>T (p.Trp402Cys) c.1380G>T (p.Trp460Cys) c.1359G>T (p.Trp453Cys) c.1251G>T (p.Trp417Cys) n.4579G>T c.1758G>T (p.Trp586Cys) c.1665G>T (p.Trp555Cys) c.1620G>T (p.Trp540Cys) c.1593G>T (p.Trp531Cys) c.1344G>T (p.Trp448Cys) c.1089G>T (p.Trp363Cys) c.1626G>T (p.Trp542Cys) c.1548G>T (p.Trp516Cys) c.1518G>T (p.Trp506Cys) c.1497G>T (p.Trp499Cys) c.1473G>T (p.Trp491Cys) c.1428G>T (p.Trp476Cys) c.1389G>T (p.Trp463Cys) c.1299G>T (p.Trp433Cys) c.1254G>T (p.Trp418Cys) c.1677G>T (p.Trp559Cys) c.1632G>T (p.Trp544Cys) c.1686G>T (p.Trp562Cys) c.1383G>T (p.Trp461Cys) c.1290G>T (p.Trp430Cys) c.1287G>T (p.Trp429Cys) c.1218G>T (p.Trp406Cys) c.1182G>T (p.Trp394Cys) c.1179G>T (p.Trp393Cys) c.1086G>T (p.Trp362Cys) c.1041G>T (p.Trp347Cys) | |
| 2 | g.127048595C= | CA1286710731 | BIN1 | c.1296G= (p.Trp432=) c.1713G= (p.Trp571=) c.1425G= (p.Trp475=) c.1488G= (p.Trp496=) c.1161G= (p.Trp387=) c.1452G= (p.Trp484=) c.1584G= (p.Trp528=) c.1206G= (p.Trp402=) c.1380G= (p.Trp460=) c.1359G= (p.Trp453=) c.1251G= (p.Trp417=) n.4579G= c.1758G= (p.Trp586=) c.1665G= (p.Trp555=) c.1620G= (p.Trp540=) c.1593G= (p.Trp531=) c.1344G= (p.Trp448=) c.1089G= (p.Trp363=) c.1626G= (p.Trp542=) c.1548G= (p.Trp516=) c.1518G= (p.Trp506=) c.1497G= (p.Trp499=) c.1473G= (p.Trp491=) c.1428G= (p.Trp476=) c.1389G= (p.Trp463=) c.1299G= (p.Trp433=) c.1254G= (p.Trp418=) c.1677G= (p.Trp559=) c.1632G= (p.Trp544=) c.1686G= (p.Trp562=) c.1383G= (p.Trp461=) c.1290G= (p.Trp430=) c.1287G= (p.Trp429=) c.1218G= (p.Trp406=) c.1182G= (p.Trp394=) c.1179G= (p.Trp393=) c.1086G= (p.Trp362=) c.1041G= (p.Trp347=) | |
| 2 | g.127048595C>G | CA348373606 | BIN1 | c.1296G>C (p.Trp432Cys) c.1713G>C (p.Trp571Cys) c.1425G>C (p.Trp475Cys) c.1488G>C (p.Trp496Cys) c.1161G>C (p.Trp387Cys) c.1452G>C (p.Trp484Cys) c.1584G>C (p.Trp528Cys) c.1206G>C (p.Trp402Cys) c.1380G>C (p.Trp460Cys) c.1359G>C (p.Trp453Cys) c.1251G>C (p.Trp417Cys) n.4579G>C c.1758G>C (p.Trp586Cys) c.1665G>C (p.Trp555Cys) c.1620G>C (p.Trp540Cys) c.1593G>C (p.Trp531Cys) c.1344G>C (p.Trp448Cys) c.1089G>C (p.Trp363Cys) c.1626G>C (p.Trp542Cys) c.1548G>C (p.Trp516Cys) c.1518G>C (p.Trp506Cys) c.1497G>C (p.Trp499Cys) c.1473G>C (p.Trp491Cys) c.1428G>C (p.Trp476Cys) c.1389G>C (p.Trp463Cys) c.1299G>C (p.Trp433Cys) c.1254G>C (p.Trp418Cys) c.1677G>C (p.Trp559Cys) c.1632G>C (p.Trp544Cys) c.1686G>C (p.Trp562Cys) c.1383G>C (p.Trp461Cys) c.1290G>C (p.Trp430Cys) c.1287G>C (p.Trp429Cys) c.1218G>C (p.Trp406Cys) c.1182G>C (p.Trp394Cys) c.1179G>C (p.Trp393Cys) c.1086G>C (p.Trp362Cys) c.1041G>C (p.Trp347Cys) | |
| 2 | g.127048595C>T | CA171397 | BIN1 | c.1296G>A (p.Trp432Ter) c.1713G>A (p.Trp571Ter) c.1425G>A (p.Trp475Ter) c.1488G>A (p.Trp496Ter) c.1161G>A (p.Trp387Ter) c.1452G>A (p.Trp484Ter) c.1584G>A (p.Trp528Ter) c.1206G>A (p.Trp402Ter) c.1380G>A (p.Trp460Ter) c.1359G>A (p.Trp453Ter) c.1251G>A (p.Trp417Ter) n.4579G>A c.1758G>A (p.Trp586Ter) c.1665G>A (p.Trp555Ter) c.1620G>A (p.Trp540Ter) c.1593G>A (p.Trp531Ter) c.1344G>A (p.Trp448Ter) c.1089G>A (p.Trp363Ter) c.1626G>A (p.Trp542Ter) c.1548G>A (p.Trp516Ter) c.1518G>A (p.Trp506Ter) c.1497G>A (p.Trp499Ter) c.1473G>A (p.Trp491Ter) c.1428G>A (p.Trp476Ter) c.1389G>A (p.Trp463Ter) c.1299G>A (p.Trp433Ter) c.1254G>A (p.Trp418Ter) c.1677G>A (p.Trp559Ter) c.1632G>A (p.Trp544Ter) c.1686G>A (p.Trp562Ter) c.1383G>A (p.Trp461Ter) c.1290G>A (p.Trp430Ter) c.1287G>A (p.Trp429Ter) c.1218G>A (p.Trp406Ter) c.1182G>A (p.Trp394Ter) c.1179G>A (p.Trp393Ter) c.1086G>A (p.Trp362Ter) c.1041G>A (p.Trp347Ter) | ClinVar dbSNP |
| 2 | g.127048596C>A | CA348373612 | BIN1 | c.1295G>T (p.Trp432Leu) c.1712G>T (p.Trp571Leu) c.1424G>T (p.Trp475Leu) c.1487G>T (p.Trp496Leu) c.1160G>T (p.Trp387Leu) c.1451G>T (p.Trp484Leu) c.1583G>T (p.Trp528Leu) c.1205G>T (p.Trp402Leu) c.1379G>T (p.Trp460Leu) c.1358G>T (p.Trp453Leu) c.1250G>T (p.Trp417Leu) n.4578G>T c.1757G>T (p.Trp586Leu) c.1664G>T (p.Trp555Leu) c.1619G>T (p.Trp540Leu) c.1592G>T (p.Trp531Leu) c.1343G>T (p.Trp448Leu) c.1088G>T (p.Trp363Leu) c.1625G>T (p.Trp542Leu) c.1547G>T (p.Trp516Leu) c.1517G>T (p.Trp506Leu) c.1496G>T (p.Trp499Leu) c.1472G>T (p.Trp491Leu) c.1427G>T (p.Trp476Leu) c.1388G>T (p.Trp463Leu) c.1298G>T (p.Trp433Leu) c.1253G>T (p.Trp418Leu) c.1676G>T (p.Trp559Leu) c.1631G>T (p.Trp544Leu) c.1685G>T (p.Trp562Leu) c.1382G>T (p.Trp461Leu) c.1289G>T (p.Trp430Leu) c.1286G>T (p.Trp429Leu) c.1217G>T (p.Trp406Leu) c.1181G>T (p.Trp394Leu) c.1178G>T (p.Trp393Leu) c.1085G>T (p.Trp362Leu) c.1040G>T (p.Trp347Leu) | |
| 2 | g.127048596C>G | CA348373610 | BIN1 | c.1295G>C (p.Trp432Ser) c.1712G>C (p.Trp571Ser) c.1424G>C (p.Trp475Ser) c.1487G>C (p.Trp496Ser) c.1160G>C (p.Trp387Ser) c.1451G>C (p.Trp484Ser) c.1583G>C (p.Trp528Ser) c.1205G>C (p.Trp402Ser) c.1379G>C (p.Trp460Ser) c.1358G>C (p.Trp453Ser) c.1250G>C (p.Trp417Ser) n.4578G>C c.1757G>C (p.Trp586Ser) c.1664G>C (p.Trp555Ser) c.1619G>C (p.Trp540Ser) c.1592G>C (p.Trp531Ser) c.1343G>C (p.Trp448Ser) c.1088G>C (p.Trp363Ser) c.1625G>C (p.Trp542Ser) c.1547G>C (p.Trp516Ser) c.1517G>C (p.Trp506Ser) c.1496G>C (p.Trp499Ser) c.1472G>C (p.Trp491Ser) c.1427G>C (p.Trp476Ser) c.1388G>C (p.Trp463Ser) c.1298G>C (p.Trp433Ser) c.1253G>C (p.Trp418Ser) c.1676G>C (p.Trp559Ser) c.1631G>C (p.Trp544Ser) c.1685G>C (p.Trp562Ser) c.1382G>C (p.Trp461Ser) c.1289G>C (p.Trp430Ser) c.1286G>C (p.Trp429Ser) c.1217G>C (p.Trp406Ser) c.1181G>C (p.Trp394Ser) c.1178G>C (p.Trp393Ser) c.1085G>C (p.Trp362Ser) c.1040G>C (p.Trp347Ser) | |
| 2 | g.127048596C>T | CA348373609 | BIN1 | c.1295G>A (p.Trp432Ter) c.1712G>A (p.Trp571Ter) c.1424G>A (p.Trp475Ter) c.1487G>A (p.Trp496Ter) c.1160G>A (p.Trp387Ter) c.1451G>A (p.Trp484Ter) c.1583G>A (p.Trp528Ter) c.1205G>A (p.Trp402Ter) c.1379G>A (p.Trp460Ter) c.1358G>A (p.Trp453Ter) c.1250G>A (p.Trp417Ter) n.4578G>A c.1757G>A (p.Trp586Ter) c.1664G>A (p.Trp555Ter) c.1619G>A (p.Trp540Ter) c.1592G>A (p.Trp531Ter) c.1343G>A (p.Trp448Ter) c.1088G>A (p.Trp363Ter) c.1625G>A (p.Trp542Ter) c.1547G>A (p.Trp516Ter) c.1517G>A (p.Trp506Ter) c.1496G>A (p.Trp499Ter) c.1472G>A (p.Trp491Ter) c.1427G>A (p.Trp476Ter) c.1388G>A (p.Trp463Ter) c.1298G>A (p.Trp433Ter) c.1253G>A (p.Trp418Ter) c.1676G>A (p.Trp559Ter) c.1631G>A (p.Trp544Ter) c.1685G>A (p.Trp562Ter) c.1382G>A (p.Trp461Ter) c.1289G>A (p.Trp430Ter) c.1286G>A (p.Trp429Ter) c.1217G>A (p.Trp406Ter) c.1181G>A (p.Trp394Ter) c.1178G>A (p.Trp393Ter) c.1085G>A (p.Trp362Ter) c.1040G>A (p.Trp347Ter) | ClinVar gnomAD v4 |
| 2 | g.127048597A>C | CA348373617 | BIN1 | c.1294T>G (p.Trp432Gly) c.1711T>G (p.Trp571Gly) c.1423T>G (p.Trp475Gly) c.1486T>G (p.Trp496Gly) c.1159T>G (p.Trp387Gly) c.1450T>G (p.Trp484Gly) c.1582T>G (p.Trp528Gly) c.1204T>G (p.Trp402Gly) c.1378T>G (p.Trp460Gly) c.1357T>G (p.Trp453Gly) c.1249T>G (p.Trp417Gly) n.4577T>G c.1756T>G (p.Trp586Gly) c.1663T>G (p.Trp555Gly) c.1618T>G (p.Trp540Gly) c.1591T>G (p.Trp531Gly) c.1342T>G (p.Trp448Gly) c.1087T>G (p.Trp363Gly) c.1624T>G (p.Trp542Gly) c.1546T>G (p.Trp516Gly) c.1516T>G (p.Trp506Gly) c.1495T>G (p.Trp499Gly) c.1471T>G (p.Trp491Gly) c.1426T>G (p.Trp476Gly) c.1387T>G (p.Trp463Gly) c.1297T>G (p.Trp433Gly) c.1252T>G (p.Trp418Gly) c.1675T>G (p.Trp559Gly) c.1630T>G (p.Trp544Gly) c.1684T>G (p.Trp562Gly) c.1381T>G (p.Trp461Gly) c.1288T>G (p.Trp430Gly) c.1285T>G (p.Trp429Gly) c.1216T>G (p.Trp406Gly) c.1180T>G (p.Trp394Gly) c.1177T>G (p.Trp393Gly) c.1084T>G (p.Trp362Gly) c.1039T>G (p.Trp347Gly) | |
| 2 | g.127048597A>G | CA348373618 | BIN1 | c.1294T>C (p.Trp432Arg) c.1711T>C (p.Trp571Arg) c.1423T>C (p.Trp475Arg) c.1486T>C (p.Trp496Arg) c.1159T>C (p.Trp387Arg) c.1450T>C (p.Trp484Arg) c.1582T>C (p.Trp528Arg) c.1204T>C (p.Trp402Arg) c.1378T>C (p.Trp460Arg) c.1357T>C (p.Trp453Arg) c.1249T>C (p.Trp417Arg) n.4577T>C c.1756T>C (p.Trp586Arg) c.1663T>C (p.Trp555Arg) c.1618T>C (p.Trp540Arg) c.1591T>C (p.Trp531Arg) c.1342T>C (p.Trp448Arg) c.1087T>C (p.Trp363Arg) c.1624T>C (p.Trp542Arg) c.1546T>C (p.Trp516Arg) c.1516T>C (p.Trp506Arg) c.1495T>C (p.Trp499Arg) c.1471T>C (p.Trp491Arg) c.1426T>C (p.Trp476Arg) c.1387T>C (p.Trp463Arg) c.1297T>C (p.Trp433Arg) c.1252T>C (p.Trp418Arg) c.1675T>C (p.Trp559Arg) c.1630T>C (p.Trp544Arg) c.1684T>C (p.Trp562Arg) c.1381T>C (p.Trp461Arg) c.1288T>C (p.Trp430Arg) c.1285T>C (p.Trp429Arg) c.1216T>C (p.Trp406Arg) c.1180T>C (p.Trp394Arg) c.1177T>C (p.Trp393Arg) c.1084T>C (p.Trp362Arg) c.1039T>C (p.Trp347Arg) | gnomAD v4 |
| 2 | g.127048597A>T | CA348373619 | BIN1 | c.1294T>A (p.Trp432Arg) c.1711T>A (p.Trp571Arg) c.1423T>A (p.Trp475Arg) c.1486T>A (p.Trp496Arg) c.1159T>A (p.Trp387Arg) c.1450T>A (p.Trp484Arg) c.1582T>A (p.Trp528Arg) c.1204T>A (p.Trp402Arg) c.1378T>A (p.Trp460Arg) c.1357T>A (p.Trp453Arg) c.1249T>A (p.Trp417Arg) n.4577T>A c.1756T>A (p.Trp586Arg) c.1663T>A (p.Trp555Arg) c.1618T>A (p.Trp540Arg) c.1591T>A (p.Trp531Arg) c.1342T>A (p.Trp448Arg) c.1087T>A (p.Trp363Arg) c.1624T>A (p.Trp542Arg) c.1546T>A (p.Trp516Arg) c.1516T>A (p.Trp506Arg) c.1495T>A (p.Trp499Arg) c.1471T>A (p.Trp491Arg) c.1426T>A (p.Trp476Arg) c.1387T>A (p.Trp463Arg) c.1297T>A (p.Trp433Arg) c.1252T>A (p.Trp418Arg) c.1675T>A (p.Trp559Arg) c.1630T>A (p.Trp544Arg) c.1684T>A (p.Trp562Arg) c.1381T>A (p.Trp461Arg) c.1288T>A (p.Trp430Arg) c.1285T>A (p.Trp429Arg) c.1216T>A (p.Trp406Arg) c.1180T>A (p.Trp394Arg) c.1177T>A (p.Trp393Arg) c.1084T>A (p.Trp362Arg) c.1039T>A (p.Trp347Arg) | |
| 2 | g.127048598G>A | CA171395 | BIN1 | c.1293C>T (p.Asp431=) c.1710C>T (p.Asp570=) c.1422C>T (p.Asp474=) c.1485C>T (p.Asp495=) c.1158C>T (p.Asp386=) c.1449C>T (p.Asp483=) c.1581C>T (p.Asp527=) c.1203C>T (p.Asp401=) c.1377C>T (p.Asp459=) c.1356C>T (p.Asp452=) c.1248C>T (p.Asp416=) n.4576C>T c.1755C>T (p.Asp585=) c.1662C>T (p.Asp554=) c.1617C>T (p.Asp539=) c.1590C>T (p.Asp530=) c.1341C>T (p.Asp447=) c.1086C>T (p.Asp362=) c.1623C>T (p.Asp541=) c.1545C>T (p.Asp515=) c.1515C>T (p.Asp505=) c.1494C>T (p.Asp498=) c.1470C>T (p.Asp490=) c.1425C>T (p.Asp475=) c.1386C>T (p.Asp462=) c.1296C>T (p.Asp432=) c.1251C>T (p.Asp417=) c.1674C>T (p.Asp558=) c.1629C>T (p.Asp543=) c.1683C>T (p.Asp561=) c.1380C>T (p.Asp460=) c.1287C>T (p.Asp429=) c.1284C>T (p.Asp428=) c.1215C>T (p.Asp405=) c.1179C>T (p.Asp393=) c.1176C>T (p.Asp392=) c.1083C>T (p.Asp361=) c.1038C>T (p.Asp346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127048598G>C | CA1856933 | BIN1 | c.1293C>G (p.Asp431Glu) c.1710C>G (p.Asp570Glu) c.1422C>G (p.Asp474Glu) c.1485C>G (p.Asp495Glu) c.1158C>G (p.Asp386Glu) c.1449C>G (p.Asp483Glu) c.1581C>G (p.Asp527Glu) c.1203C>G (p.Asp401Glu) c.1377C>G (p.Asp459Glu) c.1356C>G (p.Asp452Glu) c.1248C>G (p.Asp416Glu) n.4576C>G c.1755C>G (p.Asp585Glu) c.1662C>G (p.Asp554Glu) c.1617C>G (p.Asp539Glu) c.1590C>G (p.Asp530Glu) c.1341C>G (p.Asp447Glu) c.1086C>G (p.Asp362Glu) c.1623C>G (p.Asp541Glu) c.1545C>G (p.Asp515Glu) c.1515C>G (p.Asp505Glu) c.1494C>G (p.Asp498Glu) c.1470C>G (p.Asp490Glu) c.1425C>G (p.Asp475Glu) c.1386C>G (p.Asp462Glu) c.1296C>G (p.Asp432Glu) c.1251C>G (p.Asp417Glu) c.1674C>G (p.Asp558Glu) c.1629C>G (p.Asp543Glu) c.1683C>G (p.Asp561Glu) c.1380C>G (p.Asp460Glu) c.1287C>G (p.Asp429Glu) c.1284C>G (p.Asp428Glu) c.1215C>G (p.Asp405Glu) c.1179C>G (p.Asp393Glu) c.1176C>G (p.Asp392Glu) c.1083C>G (p.Asp361Glu) c.1038C>G (p.Asp346Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127048598G= | CA1286710732 | BIN1 | c.1293C= (p.Asp431=) c.1710C= (p.Asp570=) c.1422C= (p.Asp474=) c.1485C= (p.Asp495=) c.1158C= (p.Asp386=) c.1449C= (p.Asp483=) c.1581C= (p.Asp527=) c.1203C= (p.Asp401=) c.1377C= (p.Asp459=) c.1356C= (p.Asp452=) c.1248C= (p.Asp416=) n.4576C= c.1755C= (p.Asp585=) c.1662C= (p.Asp554=) c.1617C= (p.Asp539=) c.1590C= (p.Asp530=) c.1341C= (p.Asp447=) c.1086C= (p.Asp362=) c.1623C= (p.Asp541=) c.1545C= (p.Asp515=) c.1515C= (p.Asp505=) c.1494C= (p.Asp498=) c.1470C= (p.Asp490=) c.1425C= (p.Asp475=) c.1386C= (p.Asp462=) c.1296C= (p.Asp432=) c.1251C= (p.Asp417=) c.1674C= (p.Asp558=) c.1629C= (p.Asp543=) c.1683C= (p.Asp561=) c.1380C= (p.Asp460=) c.1287C= (p.Asp429=) c.1284C= (p.Asp428=) c.1215C= (p.Asp405=) c.1179C= (p.Asp393=) c.1176C= (p.Asp392=) c.1083C= (p.Asp361=) c.1038C= (p.Asp346=) | |
| 2 | g.127048598G>T | CA348373622 | BIN1 | c.1293C>A (p.Asp431Glu) c.1710C>A (p.Asp570Glu) c.1422C>A (p.Asp474Glu) c.1485C>A (p.Asp495Glu) c.1158C>A (p.Asp386Glu) c.1449C>A (p.Asp483Glu) c.1581C>A (p.Asp527Glu) c.1203C>A (p.Asp401Glu) c.1377C>A (p.Asp459Glu) c.1356C>A (p.Asp452Glu) c.1248C>A (p.Asp416Glu) n.4576C>A c.1755C>A (p.Asp585Glu) c.1662C>A (p.Asp554Glu) c.1617C>A (p.Asp539Glu) c.1590C>A (p.Asp530Glu) c.1341C>A (p.Asp447Glu) c.1086C>A (p.Asp362Glu) c.1623C>A (p.Asp541Glu) c.1545C>A (p.Asp515Glu) c.1515C>A (p.Asp505Glu) c.1494C>A (p.Asp498Glu) c.1470C>A (p.Asp490Glu) c.1425C>A (p.Asp475Glu) c.1386C>A (p.Asp462Glu) c.1296C>A (p.Asp432Glu) c.1251C>A (p.Asp417Glu) c.1674C>A (p.Asp558Glu) c.1629C>A (p.Asp543Glu) c.1683C>A (p.Asp561Glu) c.1380C>A (p.Asp460Glu) c.1287C>A (p.Asp429Glu) c.1284C>A (p.Asp428Glu) c.1215C>A (p.Asp405Glu) c.1179C>A (p.Asp393Glu) c.1176C>A (p.Asp392Glu) c.1083C>A (p.Asp361Glu) c.1038C>A (p.Asp346Glu) | |
| 2 | g.127048599T>A | CA348373627 | BIN1 | c.1292A>T (p.Asp431Val) c.1709A>T (p.Asp570Val) c.1421A>T (p.Asp474Val) c.1484A>T (p.Asp495Val) c.1157A>T (p.Asp386Val) c.1448A>T (p.Asp483Val) c.1580A>T (p.Asp527Val) c.1202A>T (p.Asp401Val) c.1376A>T (p.Asp459Val) c.1355A>T (p.Asp452Val) c.1247A>T (p.Asp416Val) n.4575A>T c.1754A>T (p.Asp585Val) c.1661A>T (p.Asp554Val) c.1616A>T (p.Asp539Val) c.1589A>T (p.Asp530Val) c.1340A>T (p.Asp447Val) c.1085A>T (p.Asp362Val) c.1622A>T (p.Asp541Val) c.1544A>T (p.Asp515Val) c.1514A>T (p.Asp505Val) c.1493A>T (p.Asp498Val) c.1469A>T (p.Asp490Val) c.1424A>T (p.Asp475Val) c.1385A>T (p.Asp462Val) c.1295A>T (p.Asp432Val) c.1250A>T (p.Asp417Val) c.1673A>T (p.Asp558Val) c.1628A>T (p.Asp543Val) c.1682A>T (p.Asp561Val) c.1379A>T (p.Asp460Val) c.1286A>T (p.Asp429Val) c.1283A>T (p.Asp428Val) c.1214A>T (p.Asp405Val) c.1178A>T (p.Asp393Val) c.1175A>T (p.Asp392Val) c.1082A>T (p.Asp361Val) c.1037A>T (p.Asp346Val) | |
| 2 | g.127048599T>C | CA348373624 | BIN1 | c.1292A>G (p.Asp431Gly) c.1709A>G (p.Asp570Gly) c.1421A>G (p.Asp474Gly) c.1484A>G (p.Asp495Gly) c.1157A>G (p.Asp386Gly) c.1448A>G (p.Asp483Gly) c.1580A>G (p.Asp527Gly) c.1202A>G (p.Asp401Gly) c.1376A>G (p.Asp459Gly) c.1355A>G (p.Asp452Gly) c.1247A>G (p.Asp416Gly) n.4575A>G c.1754A>G (p.Asp585Gly) c.1661A>G (p.Asp554Gly) c.1616A>G (p.Asp539Gly) c.1589A>G (p.Asp530Gly) c.1340A>G (p.Asp447Gly) c.1085A>G (p.Asp362Gly) c.1622A>G (p.Asp541Gly) c.1544A>G (p.Asp515Gly) c.1514A>G (p.Asp505Gly) c.1493A>G (p.Asp498Gly) c.1469A>G (p.Asp490Gly) c.1424A>G (p.Asp475Gly) c.1385A>G (p.Asp462Gly) c.1295A>G (p.Asp432Gly) c.1250A>G (p.Asp417Gly) c.1673A>G (p.Asp558Gly) c.1628A>G (p.Asp543Gly) c.1682A>G (p.Asp561Gly) c.1379A>G (p.Asp460Gly) c.1286A>G (p.Asp429Gly) c.1283A>G (p.Asp428Gly) c.1214A>G (p.Asp405Gly) c.1178A>G (p.Asp393Gly) c.1175A>G (p.Asp392Gly) c.1082A>G (p.Asp361Gly) c.1037A>G (p.Asp346Gly) |