Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.77644826C>A | CA353533656 | ROBO2 | c.4252C>A (p.His1418Asn) c.4243C>A (p.His1415Asn) c.4138C>A (p.His1380Asn) c.4330C>A (p.His1444Asn) c.*1000C>A (n.*1000C>A) c.4342C>A (p.His1448Asn) c.4516C>A (p.His1506Asn) c.*2490C>A (n.*2490C>A) c.4183C>A (p.His1395Asn) c.598C>A (p.His200Asn) c.4240C>A (p.His1414Asn) c.4057C>A (p.His1353Asn) n.6045C>A c.*2501C>A (n.*2501C>A) c.551C>A c.4105C>A (p.His1369Asn) c.515C>A c.3673C>A (p.His1225Asn) c.4069C>A (p.His1357Asn) c.2278C>A (p.His760Asn) c.4720C>A (p.His1574Asn) c.4594C>A (p.His1532Asn) c.4537C>A (p.His1513Asn) c.4264C>A (p.His1422Asn) c.4651C>A (p.His1551Asn) c.4585C>A (p.His1529Asn) c.4525C>A (p.His1509Asn) c.4411C>A (p.His1471Asn) c.4390C>A (p.His1464Asn) c.4255C>A (p.His1419Asn) c.4195C>A (p.His1399Asn) c.4129C>A (p.His1377Asn) c.4126C>A (p.His1376Asn) c.4117C>A (p.His1373Asn) c.4060C>A (p.His1354Asn) c.3943C>A (p.His1315Asn) | |
3 | g.77644826C= | CA1376777962 | ROBO2 | c.4252C= (p.His1418=) c.4243C= (p.His1415=) c.4138C= (p.His1380=) c.4330C= (p.His1444=) c.*1000C= (n.*1000C=) c.4342C= (p.His1448=) c.4516C= (p.His1506=) c.*2490C= (n.*2490C=) c.4183C= (p.His1395=) c.598C= (p.His200=) c.4240C= (p.His1414=) c.4057C= (p.His1353=) n.6045C= c.*2501C= (n.*2501C=) c.551C= c.4105C= (p.His1369=) c.515C= c.3673C= (p.His1225=) c.4069C= (p.His1357=) c.2278C= (p.His760=) c.4720C= (p.His1574=) c.4594C= (p.His1532=) c.4537C= (p.His1513=) c.4264C= (p.His1422=) c.4651C= (p.His1551=) c.4585C= (p.His1529=) c.4525C= (p.His1509=) c.4411C= (p.His1471=) c.4390C= (p.His1464=) c.4255C= (p.His1419=) c.4195C= (p.His1399=) c.4129C= (p.His1377=) c.4126C= (p.His1376=) c.4117C= (p.His1373=) c.4060C= (p.His1354=) c.3943C= (p.His1315=) | |
3 | g.77644826C>G | CA353533658 | ROBO2 | c.4252C>G (p.His1418Asp) c.4243C>G (p.His1415Asp) c.4138C>G (p.His1380Asp) c.4330C>G (p.His1444Asp) c.*1000C>G (n.*1000C>G) c.4342C>G (p.His1448Asp) c.4516C>G (p.His1506Asp) c.*2490C>G (n.*2490C>G) c.4183C>G (p.His1395Asp) c.598C>G (p.His200Asp) c.4240C>G (p.His1414Asp) c.4057C>G (p.His1353Asp) n.6045C>G c.*2501C>G (n.*2501C>G) c.551C>G c.4105C>G (p.His1369Asp) c.515C>G c.3673C>G (p.His1225Asp) c.4069C>G (p.His1357Asp) c.2278C>G (p.His760Asp) c.4720C>G (p.His1574Asp) c.4594C>G (p.His1532Asp) c.4537C>G (p.His1513Asp) c.4264C>G (p.His1422Asp) c.4651C>G (p.His1551Asp) c.4585C>G (p.His1529Asp) c.4525C>G (p.His1509Asp) c.4411C>G (p.His1471Asp) c.4390C>G (p.His1464Asp) c.4255C>G (p.His1419Asp) c.4195C>G (p.His1399Asp) c.4129C>G (p.His1377Asp) c.4126C>G (p.His1376Asp) c.4117C>G (p.His1373Asp) c.4060C>G (p.His1354Asp) c.3943C>G (p.His1315Asp) | |
3 | g.77644826C>T | CA353533660 | ROBO2 | c.4252C>T (p.His1418Tyr) c.4243C>T (p.His1415Tyr) c.4138C>T (p.His1380Tyr) c.4330C>T (p.His1444Tyr) c.*1000C>T (n.*1000C>T) c.4342C>T (p.His1448Tyr) c.4516C>T (p.His1506Tyr) c.*2490C>T (n.*2490C>T) c.4183C>T (p.His1395Tyr) c.598C>T (p.His200Tyr) c.4240C>T (p.His1414Tyr) c.4057C>T (p.His1353Tyr) n.6045C>T c.*2501C>T (n.*2501C>T) c.551C>T c.4105C>T (p.His1369Tyr) c.515C>T c.3673C>T (p.His1225Tyr) c.4069C>T (p.His1357Tyr) c.2278C>T (p.His760Tyr) c.4720C>T (p.His1574Tyr) c.4594C>T (p.His1532Tyr) c.4537C>T (p.His1513Tyr) c.4264C>T (p.His1422Tyr) c.4651C>T (p.His1551Tyr) c.4585C>T (p.His1529Tyr) c.4525C>T (p.His1509Tyr) c.4411C>T (p.His1471Tyr) c.4390C>T (p.His1464Tyr) c.4255C>T (p.His1419Tyr) c.4195C>T (p.His1399Tyr) c.4129C>T (p.His1377Tyr) c.4126C>T (p.His1376Tyr) c.4117C>T (p.His1373Tyr) c.4060C>T (p.His1354Tyr) c.3943C>T (p.His1315Tyr) | |
3 | g.77644827A>C | CA353533661 | ROBO2 | c.4253A>C (p.His1418Pro) c.4244A>C (p.His1415Pro) c.4139A>C (p.His1380Pro) c.4331A>C (p.His1444Pro) c.*1001A>C (n.*1001A>C) c.4343A>C (p.His1448Pro) c.4517A>C (p.His1506Pro) c.*2491A>C (n.*2491A>C) c.4184A>C (p.His1395Pro) c.599A>C (p.His200Pro) c.4241A>C (p.His1414Pro) c.4058A>C (p.His1353Pro) n.6046A>C c.*2502A>C (n.*2502A>C) c.552A>C c.4106A>C (p.His1369Pro) c.516A>C c.3674A>C (p.His1225Pro) c.4070A>C (p.His1357Pro) c.2279A>C (p.His760Pro) c.4721A>C (p.His1574Pro) c.4595A>C (p.His1532Pro) c.4538A>C (p.His1513Pro) c.4265A>C (p.His1422Pro) c.4652A>C (p.His1551Pro) c.4586A>C (p.His1529Pro) c.4526A>C (p.His1509Pro) c.4412A>C (p.His1471Pro) c.4391A>C (p.His1464Pro) c.4256A>C (p.His1419Pro) c.4196A>C (p.His1399Pro) c.4130A>C (p.His1377Pro) c.4127A>C (p.His1376Pro) c.4118A>C (p.His1373Pro) c.4061A>C (p.His1354Pro) c.3944A>C (p.His1315Pro) | |
3 | g.77644827A>G | CA353533662 | ROBO2 | c.4253A>G (p.His1418Arg) c.4244A>G (p.His1415Arg) c.4139A>G (p.His1380Arg) c.4331A>G (p.His1444Arg) c.*1001A>G (n.*1001A>G) c.4343A>G (p.His1448Arg) c.4517A>G (p.His1506Arg) c.*2491A>G (n.*2491A>G) c.4184A>G (p.His1395Arg) c.599A>G (p.His200Arg) c.4241A>G (p.His1414Arg) c.4058A>G (p.His1353Arg) n.6046A>G c.*2502A>G (n.*2502A>G) c.552A>G c.4106A>G (p.His1369Arg) c.516A>G c.3674A>G (p.His1225Arg) c.4070A>G (p.His1357Arg) c.2279A>G (p.His760Arg) c.4721A>G (p.His1574Arg) c.4595A>G (p.His1532Arg) c.4538A>G (p.His1513Arg) c.4265A>G (p.His1422Arg) c.4652A>G (p.His1551Arg) c.4586A>G (p.His1529Arg) c.4526A>G (p.His1509Arg) c.4412A>G (p.His1471Arg) c.4391A>G (p.His1464Arg) c.4256A>G (p.His1419Arg) c.4196A>G (p.His1399Arg) c.4130A>G (p.His1377Arg) c.4127A>G (p.His1376Arg) c.4118A>G (p.His1373Arg) c.4061A>G (p.His1354Arg) c.3944A>G (p.His1315Arg) | |
3 | g.77644827A>T | CA353533663 | ROBO2 | c.4253A>T (p.His1418Leu) c.4244A>T (p.His1415Leu) c.4139A>T (p.His1380Leu) c.4331A>T (p.His1444Leu) c.*1001A>T (n.*1001A>T) c.4343A>T (p.His1448Leu) c.4517A>T (p.His1506Leu) c.*2491A>T (n.*2491A>T) c.4184A>T (p.His1395Leu) c.599A>T (p.His200Leu) c.4241A>T (p.His1414Leu) c.4058A>T (p.His1353Leu) n.6046A>T c.*2502A>T (n.*2502A>T) c.552A>T c.4106A>T (p.His1369Leu) c.516A>T c.3674A>T (p.His1225Leu) c.4070A>T (p.His1357Leu) c.2279A>T (p.His760Leu) c.4721A>T (p.His1574Leu) c.4595A>T (p.His1532Leu) c.4538A>T (p.His1513Leu) c.4265A>T (p.His1422Leu) c.4652A>T (p.His1551Leu) c.4586A>T (p.His1529Leu) c.4526A>T (p.His1509Leu) c.4412A>T (p.His1471Leu) c.4391A>T (p.His1464Leu) c.4256A>T (p.His1419Leu) c.4196A>T (p.His1399Leu) c.4130A>T (p.His1377Leu) c.4127A>T (p.His1376Leu) c.4118A>T (p.His1373Leu) c.4061A>T (p.His1354Leu) c.3944A>T (p.His1315Leu) | |
3 | g.77644827dup | CA910605354 | ROBO2 | c.4253dup (p.His1418GlnfsTer10) c.4244dup (p.His1415GlnfsTer10) c.4139dup (p.His1380GlnfsTer10) c.4331dup (p.His1444GlnfsTer10) c.*1001dup (n.*1001dup) c.4343dup (p.His1448GlnfsTer10) c.4517dup (p.His1506GlnfsTer10) c.*2491dup (n.*2491dup) c.4184dup (p.His1395GlnfsTer10) c.599dup (p.His200GlnfsTer10) c.4241dup (p.His1414GlnfsTer10) c.4058dup (p.His1353GlnfsTer10) n.6046dup c.*2502dup (n.*2502dup) c.552dup c.4106dup (p.His1369GlnfsTer10) c.516dup c.3674dup (p.His1225GlnfsTer10) c.4070dup (p.His1357GlnfsTer10) c.2279dup (p.His760GlnfsTer10) c.4721dup (p.His1574GlnfsTer10) c.4595dup (p.His1532GlnfsTer10) c.4538dup (p.His1513GlnfsTer10) c.4265dup (p.His1422GlnfsTer10) c.4652dup (p.His1551GlnfsTer10) c.4586dup (p.His1529GlnfsTer10) c.4526dup (p.His1509GlnfsTer10) c.4412dup (p.His1471GlnfsTer10) c.4391dup (p.His1464GlnfsTer10) c.4256dup (p.His1419GlnfsTer10) c.4196dup (p.His1399GlnfsTer10) c.4130dup (p.His1377GlnfsTer10) c.4127dup (p.His1376GlnfsTer10) c.4118dup (p.His1373GlnfsTer10) c.4061dup (p.His1354GlnfsTer10) c.3944dup (p.His1315GlnfsTer10) | dbSNP |
3 | g.77644828C>A | CA353533664 | ROBO2 | c.4254C>A (p.His1418Gln) c.4245C>A (p.His1415Gln) c.4140C>A (p.His1380Gln) c.4332C>A (p.His1444Gln) c.*1002C>A (n.*1002C>A) c.4344C>A (p.His1448Gln) c.4518C>A (p.His1506Gln) c.*2492C>A (n.*2492C>A) c.4185C>A (p.His1395Gln) c.600C>A (p.His200Gln) c.4242C>A (p.His1414Gln) c.4059C>A (p.His1353Gln) n.6047C>A c.*2503C>A (n.*2503C>A) c.553C>A c.4107C>A (p.His1369Gln) c.517C>A c.3675C>A (p.His1225Gln) c.4071C>A (p.His1357Gln) c.2280C>A (p.His760Gln) c.4722C>A (p.His1574Gln) c.4596C>A (p.His1532Gln) c.4539C>A (p.His1513Gln) c.4266C>A (p.His1422Gln) c.4653C>A (p.His1551Gln) c.4587C>A (p.His1529Gln) c.4527C>A (p.His1509Gln) c.4413C>A (p.His1471Gln) c.4392C>A (p.His1464Gln) c.4257C>A (p.His1419Gln) c.4197C>A (p.His1399Gln) c.4131C>A (p.His1377Gln) c.4128C>A (p.His1376Gln) c.4119C>A (p.His1373Gln) c.4062C>A (p.His1354Gln) c.3945C>A (p.His1315Gln) | |
3 | g.77644828C= | CA1376777963 | ROBO2 | c.4254C= (p.His1418=) c.4245C= (p.His1415=) c.4140C= (p.His1380=) c.4332C= (p.His1444=) c.*1002C= (n.*1002C=) c.4344C= (p.His1448=) c.4518C= (p.His1506=) c.*2492C= (n.*2492C=) c.4185C= (p.His1395=) c.600C= (p.His200=) c.4242C= (p.His1414=) c.4059C= (p.His1353=) n.6047C= c.*2503C= (n.*2503C=) c.553C= c.4107C= (p.His1369=) c.517C= c.3675C= (p.His1225=) c.4071C= (p.His1357=) c.2280C= (p.His760=) c.4722C= (p.His1574=) c.4596C= (p.His1532=) c.4539C= (p.His1513=) c.4266C= (p.His1422=) c.4653C= (p.His1551=) c.4587C= (p.His1529=) c.4527C= (p.His1509=) c.4413C= (p.His1471=) c.4392C= (p.His1464=) c.4257C= (p.His1419=) c.4197C= (p.His1399=) c.4131C= (p.His1377=) c.4128C= (p.His1376=) c.4119C= (p.His1373=) c.4062C= (p.His1354=) c.3945C= (p.His1315=) | |
3 | g.77644828C>G | CA2497833 | ROBO2 | c.4254C>G (p.His1418Gln) c.4245C>G (p.His1415Gln) c.4140C>G (p.His1380Gln) c.4332C>G (p.His1444Gln) c.*1002C>G (n.*1002C>G) c.4344C>G (p.His1448Gln) c.4518C>G (p.His1506Gln) c.*2492C>G (n.*2492C>G) c.4185C>G (p.His1395Gln) c.600C>G (p.His200Gln) c.4242C>G (p.His1414Gln) c.4059C>G (p.His1353Gln) n.6047C>G c.*2503C>G (n.*2503C>G) c.553C>G c.4107C>G (p.His1369Gln) c.517C>G c.3675C>G (p.His1225Gln) c.4071C>G (p.His1357Gln) c.2280C>G (p.His760Gln) c.4722C>G (p.His1574Gln) c.4596C>G (p.His1532Gln) c.4539C>G (p.His1513Gln) c.4266C>G (p.His1422Gln) c.4653C>G (p.His1551Gln) c.4587C>G (p.His1529Gln) c.4527C>G (p.His1509Gln) c.4413C>G (p.His1471Gln) c.4392C>G (p.His1464Gln) c.4257C>G (p.His1419Gln) c.4197C>G (p.His1399Gln) c.4131C>G (p.His1377Gln) c.4128C>G (p.His1376Gln) c.4119C>G (p.His1373Gln) c.4062C>G (p.His1354Gln) c.3945C>G (p.His1315Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77644828C>T | CA434435320 | ROBO2 | c.4254C>T (p.His1418=) c.4245C>T (p.His1415=) c.4140C>T (p.His1380=) c.4332C>T (p.His1444=) c.*1002C>T (n.*1002C>T) c.4344C>T (p.His1448=) c.4518C>T (p.His1506=) c.*2492C>T (n.*2492C>T) c.4185C>T (p.His1395=) c.600C>T (p.His200=) c.4242C>T (p.His1414=) c.4059C>T (p.His1353=) n.6047C>T c.*2503C>T (n.*2503C>T) c.553C>T c.4107C>T (p.His1369=) c.517C>T c.3675C>T (p.His1225=) c.4071C>T (p.His1357=) c.2280C>T (p.His760=) c.4722C>T (p.His1574=) c.4596C>T (p.His1532=) c.4539C>T (p.His1513=) c.4266C>T (p.His1422=) c.4653C>T (p.His1551=) c.4587C>T (p.His1529=) c.4527C>T (p.His1509=) c.4413C>T (p.His1471=) c.4392C>T (p.His1464=) c.4257C>T (p.His1419=) c.4197C>T (p.His1399=) c.4131C>T (p.His1377=) c.4128C>T (p.His1376=) c.4119C>T (p.His1373=) c.4062C>T (p.His1354=) c.3945C>T (p.His1315=) | gnomAD v4 |
3 | g.77644829C>A | CA353533665 | ROBO2 | c.4255C>A (p.Gln1419Lys) c.4246C>A (p.Gln1416Lys) c.4141C>A (p.Gln1381Lys) c.4333C>A (p.Gln1445Lys) c.*1003C>A (n.*1003C>A) c.4345C>A (p.Gln1449Lys) c.4519C>A (p.Gln1507Lys) c.*2493C>A (n.*2493C>A) c.4186C>A (p.Gln1396Lys) c.601C>A (p.Gln201Lys) c.4243C>A (p.Gln1415Lys) c.4060C>A (p.Gln1354Lys) n.6048C>A c.*2504C>A (n.*2504C>A) c.554C>A c.4108C>A (p.Gln1370Lys) c.518C>A c.3676C>A (p.Gln1226Lys) c.4072C>A (p.Gln1358Lys) c.2281C>A (p.Gln761Lys) c.4723C>A (p.Gln1575Lys) c.4597C>A (p.Gln1533Lys) c.4540C>A (p.Gln1514Lys) c.4267C>A (p.Gln1423Lys) c.4654C>A (p.Gln1552Lys) c.4588C>A (p.Gln1530Lys) c.4528C>A (p.Gln1510Lys) c.4414C>A (p.Gln1472Lys) c.4393C>A (p.Gln1465Lys) c.4258C>A (p.Gln1420Lys) c.4198C>A (p.Gln1400Lys) c.4132C>A (p.Gln1378Lys) c.4129C>A (p.Gln1377Lys) c.4120C>A (p.Gln1374Lys) c.4063C>A (p.Gln1355Lys) c.3946C>A (p.Gln1316Lys) | |
3 | g.77644829C>G | CA353533666 | ROBO2 | c.4255C>G (p.Gln1419Glu) c.4246C>G (p.Gln1416Glu) c.4141C>G (p.Gln1381Glu) c.4333C>G (p.Gln1445Glu) c.*1003C>G (n.*1003C>G) c.4345C>G (p.Gln1449Glu) c.4519C>G (p.Gln1507Glu) c.*2493C>G (n.*2493C>G) c.4186C>G (p.Gln1396Glu) c.601C>G (p.Gln201Glu) c.4243C>G (p.Gln1415Glu) c.4060C>G (p.Gln1354Glu) n.6048C>G c.*2504C>G (n.*2504C>G) c.554C>G c.4108C>G (p.Gln1370Glu) c.518C>G c.3676C>G (p.Gln1226Glu) c.4072C>G (p.Gln1358Glu) c.2281C>G (p.Gln761Glu) c.4723C>G (p.Gln1575Glu) c.4597C>G (p.Gln1533Glu) c.4540C>G (p.Gln1514Glu) c.4267C>G (p.Gln1423Glu) c.4654C>G (p.Gln1552Glu) c.4588C>G (p.Gln1530Glu) c.4528C>G (p.Gln1510Glu) c.4414C>G (p.Gln1472Glu) c.4393C>G (p.Gln1465Glu) c.4258C>G (p.Gln1420Glu) c.4198C>G (p.Gln1400Glu) c.4132C>G (p.Gln1378Glu) c.4129C>G (p.Gln1377Glu) c.4120C>G (p.Gln1374Glu) c.4063C>G (p.Gln1355Glu) c.3946C>G (p.Gln1316Glu) | |
3 | g.77644829C>T | CA353533667 | ROBO2 | c.4255C>T (p.Gln1419Ter) c.4246C>T (p.Gln1416Ter) c.4141C>T (p.Gln1381Ter) c.4333C>T (p.Gln1445Ter) c.*1003C>T (n.*1003C>T) c.4345C>T (p.Gln1449Ter) c.4519C>T (p.Gln1507Ter) c.*2493C>T (n.*2493C>T) c.4186C>T (p.Gln1396Ter) c.601C>T (p.Gln201Ter) c.4243C>T (p.Gln1415Ter) c.4060C>T (p.Gln1354Ter) n.6048C>T c.*2504C>T (n.*2504C>T) c.554C>T c.4108C>T (p.Gln1370Ter) c.518C>T c.3676C>T (p.Gln1226Ter) c.4072C>T (p.Gln1358Ter) c.2281C>T (p.Gln761Ter) c.4723C>T (p.Gln1575Ter) c.4597C>T (p.Gln1533Ter) c.4540C>T (p.Gln1514Ter) c.4267C>T (p.Gln1423Ter) c.4654C>T (p.Gln1552Ter) c.4588C>T (p.Gln1530Ter) c.4528C>T (p.Gln1510Ter) c.4414C>T (p.Gln1472Ter) c.4393C>T (p.Gln1465Ter) c.4258C>T (p.Gln1420Ter) c.4198C>T (p.Gln1400Ter) c.4132C>T (p.Gln1378Ter) c.4129C>T (p.Gln1377Ter) c.4120C>T (p.Gln1374Ter) c.4063C>T (p.Gln1355Ter) c.3946C>T (p.Gln1316Ter) | |
3 | g.77644830A= | CA1376777964 | ROBO2 | c.4256A= (p.Gln1419=) c.4247A= (p.Gln1416=) c.4142A= (p.Gln1381=) c.4334A= (p.Gln1445=) c.*1004A= (n.*1004A=) c.4346A= (p.Gln1449=) c.4520A= (p.Gln1507=) c.*2494A= (n.*2494A=) c.4187A= (p.Gln1396=) c.602A= (p.Gln201=) c.4244A= (p.Gln1415=) c.4061A= (p.Gln1354=) n.6049A= c.*2505A= (n.*2505A=) c.555A= c.4109A= (p.Gln1370=) c.519A= c.3677A= (p.Gln1226=) c.4073A= (p.Gln1358=) c.2282A= (p.Gln761=) c.4724A= (p.Gln1575=) c.4598A= (p.Gln1533=) c.4541A= (p.Gln1514=) c.4268A= (p.Gln1423=) c.4655A= (p.Gln1552=) c.4589A= (p.Gln1530=) c.4529A= (p.Gln1510=) c.4415A= (p.Gln1472=) c.4394A= (p.Gln1465=) c.4259A= (p.Gln1420=) c.4199A= (p.Gln1400=) c.4133A= (p.Gln1378=) c.4130A= (p.Gln1377=) c.4121A= (p.Gln1374=) c.4064A= (p.Gln1355=) c.3947A= (p.Gln1316=) | |
3 | g.77644830A>C | CA353533668 | ROBO2 | c.4256A>C (p.Gln1419Pro) c.4247A>C (p.Gln1416Pro) c.4142A>C (p.Gln1381Pro) c.4334A>C (p.Gln1445Pro) c.*1004A>C (n.*1004A>C) c.4346A>C (p.Gln1449Pro) c.4520A>C (p.Gln1507Pro) c.*2494A>C (n.*2494A>C) c.4187A>C (p.Gln1396Pro) c.602A>C (p.Gln201Pro) c.4244A>C (p.Gln1415Pro) c.4061A>C (p.Gln1354Pro) n.6049A>C c.*2505A>C (n.*2505A>C) c.555A>C c.4109A>C (p.Gln1370Pro) c.519A>C c.3677A>C (p.Gln1226Pro) c.4073A>C (p.Gln1358Pro) c.2282A>C (p.Gln761Pro) c.4724A>C (p.Gln1575Pro) c.4598A>C (p.Gln1533Pro) c.4541A>C (p.Gln1514Pro) c.4268A>C (p.Gln1423Pro) c.4655A>C (p.Gln1552Pro) c.4589A>C (p.Gln1530Pro) c.4529A>C (p.Gln1510Pro) c.4415A>C (p.Gln1472Pro) c.4394A>C (p.Gln1465Pro) c.4259A>C (p.Gln1420Pro) c.4199A>C (p.Gln1400Pro) c.4133A>C (p.Gln1378Pro) c.4130A>C (p.Gln1377Pro) c.4121A>C (p.Gln1374Pro) c.4064A>C (p.Gln1355Pro) c.3947A>C (p.Gln1316Pro) | dbSNP gnomAD v4 |
3 | g.77644830A>G | CA353533670 | ROBO2 | c.4256A>G (p.Gln1419Arg) c.4247A>G (p.Gln1416Arg) c.4142A>G (p.Gln1381Arg) c.4334A>G (p.Gln1445Arg) c.*1004A>G (n.*1004A>G) c.4346A>G (p.Gln1449Arg) c.4520A>G (p.Gln1507Arg) c.*2494A>G (n.*2494A>G) c.4187A>G (p.Gln1396Arg) c.602A>G (p.Gln201Arg) c.4244A>G (p.Gln1415Arg) c.4061A>G (p.Gln1354Arg) n.6049A>G c.*2505A>G (n.*2505A>G) c.555A>G c.4109A>G (p.Gln1370Arg) c.519A>G c.3677A>G (p.Gln1226Arg) c.4073A>G (p.Gln1358Arg) c.2282A>G (p.Gln761Arg) c.4724A>G (p.Gln1575Arg) c.4598A>G (p.Gln1533Arg) c.4541A>G (p.Gln1514Arg) c.4268A>G (p.Gln1423Arg) c.4655A>G (p.Gln1552Arg) c.4589A>G (p.Gln1530Arg) c.4529A>G (p.Gln1510Arg) c.4415A>G (p.Gln1472Arg) c.4394A>G (p.Gln1465Arg) c.4259A>G (p.Gln1420Arg) c.4199A>G (p.Gln1400Arg) c.4133A>G (p.Gln1378Arg) c.4130A>G (p.Gln1377Arg) c.4121A>G (p.Gln1374Arg) c.4064A>G (p.Gln1355Arg) c.3947A>G (p.Gln1316Arg) | |
3 | g.77644830A>T | CA353533669 | ROBO2 | c.4256A>T (p.Gln1419Leu) c.4247A>T (p.Gln1416Leu) c.4142A>T (p.Gln1381Leu) c.4334A>T (p.Gln1445Leu) c.*1004A>T (n.*1004A>T) c.4346A>T (p.Gln1449Leu) c.4520A>T (p.Gln1507Leu) c.*2494A>T (n.*2494A>T) c.4187A>T (p.Gln1396Leu) c.602A>T (p.Gln201Leu) c.4244A>T (p.Gln1415Leu) c.4061A>T (p.Gln1354Leu) n.6049A>T c.*2505A>T (n.*2505A>T) c.555A>T c.4109A>T (p.Gln1370Leu) c.519A>T c.3677A>T (p.Gln1226Leu) c.4073A>T (p.Gln1358Leu) c.2282A>T (p.Gln761Leu) c.4724A>T (p.Gln1575Leu) c.4598A>T (p.Gln1533Leu) c.4541A>T (p.Gln1514Leu) c.4268A>T (p.Gln1423Leu) c.4655A>T (p.Gln1552Leu) c.4589A>T (p.Gln1530Leu) c.4529A>T (p.Gln1510Leu) c.4415A>T (p.Gln1472Leu) c.4394A>T (p.Gln1465Leu) c.4259A>T (p.Gln1420Leu) c.4199A>T (p.Gln1400Leu) c.4133A>T (p.Gln1378Leu) c.4130A>T (p.Gln1377Leu) c.4121A>T (p.Gln1374Leu) c.4064A>T (p.Gln1355Leu) c.3947A>T (p.Gln1316Leu) | |
3 | g.77644831G>A | CA2497834 | ROBO2 | c.4257G>A (p.Gln1419=) c.4248G>A (p.Gln1416=) c.4143G>A (p.Gln1381=) c.4335G>A (p.Gln1445=) c.*1005G>A (n.*1005G>A) c.4347G>A (p.Gln1449=) c.4521G>A (p.Gln1507=) c.*2495G>A (n.*2495G>A) c.4188G>A (p.Gln1396=) c.603G>A (p.Gln201=) c.4245G>A (p.Gln1415=) c.4062G>A (p.Gln1354=) n.6050G>A c.*2506G>A (n.*2506G>A) c.556G>A c.4110G>A (p.Gln1370=) c.520G>A c.3678G>A (p.Gln1226=) c.4074G>A (p.Gln1358=) c.2283G>A (p.Gln761=) c.4725G>A (p.Gln1575=) c.4599G>A (p.Gln1533=) c.4542G>A (p.Gln1514=) c.4269G>A (p.Gln1423=) c.4656G>A (p.Gln1552=) c.4590G>A (p.Gln1530=) c.4530G>A (p.Gln1510=) c.4416G>A (p.Gln1472=) c.4395G>A (p.Gln1465=) c.4260G>A (p.Gln1420=) c.4200G>A (p.Gln1400=) c.4134G>A (p.Gln1378=) c.4131G>A (p.Gln1377=) c.4122G>A (p.Gln1374=) c.4065G>A (p.Gln1355=) c.3948G>A (p.Gln1316=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77644831G>C | CA353533673 | ROBO2 | c.4257G>C (p.Gln1419His) c.4248G>C (p.Gln1416His) c.4143G>C (p.Gln1381His) c.4335G>C (p.Gln1445His) c.*1005G>C (n.*1005G>C) c.4347G>C (p.Gln1449His) c.4521G>C (p.Gln1507His) c.*2495G>C (n.*2495G>C) c.4188G>C (p.Gln1396His) c.603G>C (p.Gln201His) c.4245G>C (p.Gln1415His) c.4062G>C (p.Gln1354His) n.6050G>C c.*2506G>C (n.*2506G>C) c.556G>C c.4110G>C (p.Gln1370His) c.520G>C c.3678G>C (p.Gln1226His) c.4074G>C (p.Gln1358His) c.2283G>C (p.Gln761His) c.4725G>C (p.Gln1575His) c.4599G>C (p.Gln1533His) c.4542G>C (p.Gln1514His) c.4269G>C (p.Gln1423His) c.4656G>C (p.Gln1552His) c.4590G>C (p.Gln1530His) c.4530G>C (p.Gln1510His) c.4416G>C (p.Gln1472His) c.4395G>C (p.Gln1465His) c.4260G>C (p.Gln1420His) c.4200G>C (p.Gln1400His) c.4134G>C (p.Gln1378His) c.4131G>C (p.Gln1377His) c.4122G>C (p.Gln1374His) c.4065G>C (p.Gln1355His) c.3948G>C (p.Gln1316His) | COSMIC COSMIC |
3 | g.77644831G= | CA1376777965 | ROBO2 | c.4257G= (p.Gln1419=) c.4248G= (p.Gln1416=) c.4143G= (p.Gln1381=) c.4335G= (p.Gln1445=) c.*1005G= (n.*1005G=) c.4347G= (p.Gln1449=) c.4521G= (p.Gln1507=) c.*2495G= (n.*2495G=) c.4188G= (p.Gln1396=) c.603G= (p.Gln201=) c.4245G= (p.Gln1415=) c.4062G= (p.Gln1354=) n.6050G= c.*2506G= (n.*2506G=) c.556G= c.4110G= (p.Gln1370=) c.520G= c.3678G= (p.Gln1226=) c.4074G= (p.Gln1358=) c.2283G= (p.Gln761=) c.4725G= (p.Gln1575=) c.4599G= (p.Gln1533=) c.4542G= (p.Gln1514=) c.4269G= (p.Gln1423=) c.4656G= (p.Gln1552=) c.4590G= (p.Gln1530=) c.4530G= (p.Gln1510=) c.4416G= (p.Gln1472=) c.4395G= (p.Gln1465=) c.4260G= (p.Gln1420=) c.4200G= (p.Gln1400=) c.4134G= (p.Gln1378=) c.4131G= (p.Gln1377=) c.4122G= (p.Gln1374=) c.4065G= (p.Gln1355=) c.3948G= (p.Gln1316=) | |
3 | g.77644831G>T | CA353533671 | ROBO2 | c.4257G>T (p.Gln1419His) c.4248G>T (p.Gln1416His) c.4143G>T (p.Gln1381His) c.4335G>T (p.Gln1445His) c.*1005G>T (n.*1005G>T) c.4347G>T (p.Gln1449His) c.4521G>T (p.Gln1507His) c.*2495G>T (n.*2495G>T) c.4188G>T (p.Gln1396His) c.603G>T (p.Gln201His) c.4245G>T (p.Gln1415His) c.4062G>T (p.Gln1354His) n.6050G>T c.*2506G>T (n.*2506G>T) c.556G>T c.4110G>T (p.Gln1370His) c.520G>T c.3678G>T (p.Gln1226His) c.4074G>T (p.Gln1358His) c.2283G>T (p.Gln761His) c.4725G>T (p.Gln1575His) c.4599G>T (p.Gln1533His) c.4542G>T (p.Gln1514His) c.4269G>T (p.Gln1423His) c.4656G>T (p.Gln1552His) c.4590G>T (p.Gln1530His) c.4530G>T (p.Gln1510His) c.4416G>T (p.Gln1472His) c.4395G>T (p.Gln1465His) c.4260G>T (p.Gln1420His) c.4200G>T (p.Gln1400His) c.4134G>T (p.Gln1378His) c.4131G>T (p.Gln1377His) c.4122G>T (p.Gln1374His) c.4065G>T (p.Gln1355His) c.3948G>T (p.Gln1316His) | |
3 | g.77644832C>A | CA353533675 | ROBO2 | c.4258C>A (p.Arg1420Ser) c.4249C>A (p.Arg1417Ser) c.4144C>A (p.Arg1382Ser) c.4336C>A (p.Arg1446Ser) c.*1006C>A (n.*1006C>A) c.4348C>A (p.Arg1450Ser) c.4522C>A (p.Arg1508Ser) c.*2496C>A (n.*2496C>A) c.4189C>A (p.Arg1397Ser) c.604C>A (p.Arg202Ser) c.4246C>A (p.Arg1416Ser) c.4063C>A (p.Arg1355Ser) n.6051C>A c.*2507C>A (n.*2507C>A) c.557C>A c.4111C>A (p.Arg1371Ser) c.521C>A c.3679C>A (p.Arg1227Ser) c.4075C>A (p.Arg1359Ser) c.2284C>A (p.Arg762Ser) c.4726C>A (p.Arg1576Ser) c.4600C>A (p.Arg1534Ser) c.4543C>A (p.Arg1515Ser) c.4270C>A (p.Arg1424Ser) c.4657C>A (p.Arg1553Ser) c.4591C>A (p.Arg1531Ser) c.4531C>A (p.Arg1511Ser) c.4417C>A (p.Arg1473Ser) c.4396C>A (p.Arg1466Ser) c.4261C>A (p.Arg1421Ser) c.4201C>A (p.Arg1401Ser) c.4135C>A (p.Arg1379Ser) c.4132C>A (p.Arg1378Ser) c.4123C>A (p.Arg1375Ser) c.4066C>A (p.Arg1356Ser) c.3949C>A (p.Arg1317Ser) | gnomAD v4 COSMIC COSMIC |
3 | g.77644832C= | CA1376777966 | ROBO2 | c.4258C= (p.Arg1420=) c.4249C= (p.Arg1417=) c.4144C= (p.Arg1382=) c.4336C= (p.Arg1446=) c.*1006C= (n.*1006C=) c.4348C= (p.Arg1450=) c.4522C= (p.Arg1508=) c.*2496C= (n.*2496C=) c.4189C= (p.Arg1397=) c.604C= (p.Arg202=) c.4246C= (p.Arg1416=) c.4063C= (p.Arg1355=) n.6051C= c.*2507C= (n.*2507C=) c.557C= c.4111C= (p.Arg1371=) c.521C= c.3679C= (p.Arg1227=) c.4075C= (p.Arg1359=) c.2284C= (p.Arg762=) c.4726C= (p.Arg1576=) c.4600C= (p.Arg1534=) c.4543C= (p.Arg1515=) c.4270C= (p.Arg1424=) c.4657C= (p.Arg1553=) c.4591C= (p.Arg1531=) c.4531C= (p.Arg1511=) c.4417C= (p.Arg1473=) c.4396C= (p.Arg1466=) c.4261C= (p.Arg1421=) c.4201C= (p.Arg1401=) c.4135C= (p.Arg1379=) c.4132C= (p.Arg1378=) c.4123C= (p.Arg1375=) c.4066C= (p.Arg1356=) c.3949C= (p.Arg1317=) | |
3 | g.77644832C>G | CA353533677 | ROBO2 | c.4258C>G (p.Arg1420Gly) c.4249C>G (p.Arg1417Gly) c.4144C>G (p.Arg1382Gly) c.4336C>G (p.Arg1446Gly) c.*1006C>G (n.*1006C>G) c.4348C>G (p.Arg1450Gly) c.4522C>G (p.Arg1508Gly) c.*2496C>G (n.*2496C>G) c.4189C>G (p.Arg1397Gly) c.604C>G (p.Arg202Gly) c.4246C>G (p.Arg1416Gly) c.4063C>G (p.Arg1355Gly) n.6051C>G c.*2507C>G (n.*2507C>G) c.557C>G c.4111C>G (p.Arg1371Gly) c.521C>G c.3679C>G (p.Arg1227Gly) c.4075C>G (p.Arg1359Gly) c.2284C>G (p.Arg762Gly) c.4726C>G (p.Arg1576Gly) c.4600C>G (p.Arg1534Gly) c.4543C>G (p.Arg1515Gly) c.4270C>G (p.Arg1424Gly) c.4657C>G (p.Arg1553Gly) c.4591C>G (p.Arg1531Gly) c.4531C>G (p.Arg1511Gly) c.4417C>G (p.Arg1473Gly) c.4396C>G (p.Arg1466Gly) c.4261C>G (p.Arg1421Gly) c.4201C>G (p.Arg1401Gly) c.4135C>G (p.Arg1379Gly) c.4132C>G (p.Arg1378Gly) c.4123C>G (p.Arg1375Gly) c.4066C>G (p.Arg1356Gly) c.3949C>G (p.Arg1317Gly) | |
3 | g.77644832C>T | CA2497835 | ROBO2 | c.4258C>T (p.Arg1420Cys) c.4249C>T (p.Arg1417Cys) c.4144C>T (p.Arg1382Cys) c.4336C>T (p.Arg1446Cys) c.*1006C>T (n.*1006C>T) c.4348C>T (p.Arg1450Cys) c.4522C>T (p.Arg1508Cys) c.*2496C>T (n.*2496C>T) c.4189C>T (p.Arg1397Cys) c.604C>T (p.Arg202Cys) c.4246C>T (p.Arg1416Cys) c.4063C>T (p.Arg1355Cys) n.6051C>T c.*2507C>T (n.*2507C>T) c.557C>T c.4111C>T (p.Arg1371Cys) c.521C>T c.3679C>T (p.Arg1227Cys) c.4075C>T (p.Arg1359Cys) c.2284C>T (p.Arg762Cys) c.4726C>T (p.Arg1576Cys) c.4600C>T (p.Arg1534Cys) c.4543C>T (p.Arg1515Cys) c.4270C>T (p.Arg1424Cys) c.4657C>T (p.Arg1553Cys) c.4591C>T (p.Arg1531Cys) c.4531C>T (p.Arg1511Cys) c.4417C>T (p.Arg1473Cys) c.4396C>T (p.Arg1466Cys) c.4261C>T (p.Arg1421Cys) c.4201C>T (p.Arg1401Cys) c.4135C>T (p.Arg1379Cys) c.4132C>T (p.Arg1378Cys) c.4123C>T (p.Arg1375Cys) c.4066C>T (p.Arg1356Cys) c.3949C>T (p.Arg1317Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.77644833G>A | CA2497836 | ROBO2 | c.4259G>A (p.Arg1420His) c.4250G>A (p.Arg1417His) c.4145G>A (p.Arg1382His) c.4337G>A (p.Arg1446His) c.*1007G>A (n.*1007G>A) c.4349G>A (p.Arg1450His) c.4523G>A (p.Arg1508His) c.*2497G>A (n.*2497G>A) c.4190G>A (p.Arg1397His) c.605G>A (p.Arg202His) c.4247G>A (p.Arg1416His) c.4064G>A (p.Arg1355His) n.6052G>A c.*2508G>A (n.*2508G>A) c.558G>A c.4112G>A (p.Arg1371His) c.522G>A c.3680G>A (p.Arg1227His) c.4076G>A (p.Arg1359His) c.2285G>A (p.Arg762His) c.4727G>A (p.Arg1576His) c.4601G>A (p.Arg1534His) c.4544G>A (p.Arg1515His) c.4271G>A (p.Arg1424His) c.4658G>A (p.Arg1553His) c.4592G>A (p.Arg1531His) c.4532G>A (p.Arg1511His) c.4418G>A (p.Arg1473His) c.4397G>A (p.Arg1466His) c.4262G>A (p.Arg1421His) c.4202G>A (p.Arg1401His) c.4136G>A (p.Arg1379His) c.4133G>A (p.Arg1378His) c.4124G>A (p.Arg1375His) c.4067G>A (p.Arg1356His) c.3950G>A (p.Arg1317His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.77644833G>C | CA353533681 | ROBO2 | c.4259G>C (p.Arg1420Pro) c.4250G>C (p.Arg1417Pro) c.4145G>C (p.Arg1382Pro) c.4337G>C (p.Arg1446Pro) c.*1007G>C (n.*1007G>C) c.4349G>C (p.Arg1450Pro) c.4523G>C (p.Arg1508Pro) c.*2497G>C (n.*2497G>C) c.4190G>C (p.Arg1397Pro) c.605G>C (p.Arg202Pro) c.4247G>C (p.Arg1416Pro) c.4064G>C (p.Arg1355Pro) n.6052G>C c.*2508G>C (n.*2508G>C) c.558G>C c.4112G>C (p.Arg1371Pro) c.522G>C c.3680G>C (p.Arg1227Pro) c.4076G>C (p.Arg1359Pro) c.2285G>C (p.Arg762Pro) c.4727G>C (p.Arg1576Pro) c.4601G>C (p.Arg1534Pro) c.4544G>C (p.Arg1515Pro) c.4271G>C (p.Arg1424Pro) c.4658G>C (p.Arg1553Pro) c.4592G>C (p.Arg1531Pro) c.4532G>C (p.Arg1511Pro) c.4418G>C (p.Arg1473Pro) c.4397G>C (p.Arg1466Pro) c.4262G>C (p.Arg1421Pro) c.4202G>C (p.Arg1401Pro) c.4136G>C (p.Arg1379Pro) c.4133G>C (p.Arg1378Pro) c.4124G>C (p.Arg1375Pro) c.4067G>C (p.Arg1356Pro) c.3950G>C (p.Arg1317Pro) | |
3 | g.77644833G= | CA1376777967 | ROBO2 | c.4259G= (p.Arg1420=) c.4250G= (p.Arg1417=) c.4145G= (p.Arg1382=) c.4337G= (p.Arg1446=) c.*1007G= (n.*1007G=) c.4349G= (p.Arg1450=) c.4523G= (p.Arg1508=) c.*2497G= (n.*2497G=) c.4190G= (p.Arg1397=) c.605G= (p.Arg202=) c.4247G= (p.Arg1416=) c.4064G= (p.Arg1355=) n.6052G= c.*2508G= (n.*2508G=) c.558G= c.4112G= (p.Arg1371=) c.522G= c.3680G= (p.Arg1227=) c.4076G= (p.Arg1359=) c.2285G= (p.Arg762=) c.4727G= (p.Arg1576=) c.4601G= (p.Arg1534=) c.4544G= (p.Arg1515=) c.4271G= (p.Arg1424=) c.4658G= (p.Arg1553=) c.4592G= (p.Arg1531=) c.4532G= (p.Arg1511=) c.4418G= (p.Arg1473=) c.4397G= (p.Arg1466=) c.4262G= (p.Arg1421=) c.4202G= (p.Arg1401=) c.4136G= (p.Arg1379=) c.4133G= (p.Arg1378=) c.4124G= (p.Arg1375=) c.4067G= (p.Arg1356=) c.3950G= (p.Arg1317=) | |
3 | g.77644833G>T | CA353533682 | ROBO2 | c.4259G>T (p.Arg1420Leu) c.4250G>T (p.Arg1417Leu) c.4145G>T (p.Arg1382Leu) c.4337G>T (p.Arg1446Leu) c.*1007G>T (n.*1007G>T) c.4349G>T (p.Arg1450Leu) c.4523G>T (p.Arg1508Leu) c.*2497G>T (n.*2497G>T) c.4190G>T (p.Arg1397Leu) c.605G>T (p.Arg202Leu) c.4247G>T (p.Arg1416Leu) c.4064G>T (p.Arg1355Leu) n.6052G>T c.*2508G>T (n.*2508G>T) c.558G>T c.4112G>T (p.Arg1371Leu) c.522G>T c.3680G>T (p.Arg1227Leu) c.4076G>T (p.Arg1359Leu) c.2285G>T (p.Arg762Leu) c.4727G>T (p.Arg1576Leu) c.4601G>T (p.Arg1534Leu) c.4544G>T (p.Arg1515Leu) c.4271G>T (p.Arg1424Leu) c.4658G>T (p.Arg1553Leu) c.4592G>T (p.Arg1531Leu) c.4532G>T (p.Arg1511Leu) c.4418G>T (p.Arg1473Leu) c.4397G>T (p.Arg1466Leu) c.4262G>T (p.Arg1421Leu) c.4202G>T (p.Arg1401Leu) c.4136G>T (p.Arg1379Leu) c.4133G>T (p.Arg1378Leu) c.4124G>T (p.Arg1375Leu) c.4067G>T (p.Arg1356Leu) c.3950G>T (p.Arg1317Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.77644834C>A | CA434435324 | ROBO2 | c.4260C>A (p.Arg1420=) c.4251C>A (p.Arg1417=) c.4146C>A (p.Arg1382=) c.4338C>A (p.Arg1446=) c.*1008C>A (n.*1008C>A) c.4350C>A (p.Arg1450=) c.4524C>A (p.Arg1508=) c.*2498C>A (n.*2498C>A) c.4191C>A (p.Arg1397=) c.606C>A (p.Arg202=) c.4248C>A (p.Arg1416=) c.4065C>A (p.Arg1355=) n.6053C>A c.*2509C>A (n.*2509C>A) c.559C>A c.4113C>A (p.Arg1371=) c.523C>A c.3681C>A (p.Arg1227=) c.4077C>A (p.Arg1359=) c.2286C>A (p.Arg762=) c.4728C>A (p.Arg1576=) c.4602C>A (p.Arg1534=) c.4545C>A (p.Arg1515=) c.4272C>A (p.Arg1424=) c.4659C>A (p.Arg1553=) c.4593C>A (p.Arg1531=) c.4533C>A (p.Arg1511=) c.4419C>A (p.Arg1473=) c.4398C>A (p.Arg1466=) c.4263C>A (p.Arg1421=) c.4203C>A (p.Arg1401=) c.4137C>A (p.Arg1379=) c.4134C>A (p.Arg1378=) c.4125C>A (p.Arg1375=) c.4068C>A (p.Arg1356=) c.3951C>A (p.Arg1317=) | |
3 | g.77644834C>G | CA434435325 | ROBO2 | c.4260C>G (p.Arg1420=) c.4251C>G (p.Arg1417=) c.4146C>G (p.Arg1382=) c.4338C>G (p.Arg1446=) c.*1008C>G (n.*1008C>G) c.4350C>G (p.Arg1450=) c.4524C>G (p.Arg1508=) c.*2498C>G (n.*2498C>G) c.4191C>G (p.Arg1397=) c.606C>G (p.Arg202=) c.4248C>G (p.Arg1416=) c.4065C>G (p.Arg1355=) n.6053C>G c.*2509C>G (n.*2509C>G) c.559C>G c.4113C>G (p.Arg1371=) c.523C>G c.3681C>G (p.Arg1227=) c.4077C>G (p.Arg1359=) c.2286C>G (p.Arg762=) c.4728C>G (p.Arg1576=) c.4602C>G (p.Arg1534=) c.4545C>G (p.Arg1515=) c.4272C>G (p.Arg1424=) c.4659C>G (p.Arg1553=) c.4593C>G (p.Arg1531=) c.4533C>G (p.Arg1511=) c.4419C>G (p.Arg1473=) c.4398C>G (p.Arg1466=) c.4263C>G (p.Arg1421=) c.4203C>G (p.Arg1401=) c.4137C>G (p.Arg1379=) c.4134C>G (p.Arg1378=) c.4125C>G (p.Arg1375=) c.4068C>G (p.Arg1356=) c.3951C>G (p.Arg1317=) | |
3 | g.77644834C>T | CA434435323 | ROBO2 | c.4260C>T (p.Arg1420=) c.4251C>T (p.Arg1417=) c.4146C>T (p.Arg1382=) c.4338C>T (p.Arg1446=) c.*1008C>T (n.*1008C>T) c.4350C>T (p.Arg1450=) c.4524C>T (p.Arg1508=) c.*2498C>T (n.*2498C>T) c.4191C>T (p.Arg1397=) c.606C>T (p.Arg202=) c.4248C>T (p.Arg1416=) c.4065C>T (p.Arg1355=) n.6053C>T c.*2509C>T (n.*2509C>T) c.559C>T c.4113C>T (p.Arg1371=) c.523C>T c.3681C>T (p.Arg1227=) c.4077C>T (p.Arg1359=) c.2286C>T (p.Arg762=) c.4728C>T (p.Arg1576=) c.4602C>T (p.Arg1534=) c.4545C>T (p.Arg1515=) c.4272C>T (p.Arg1424=) c.4659C>T (p.Arg1553=) c.4593C>T (p.Arg1531=) c.4533C>T (p.Arg1511=) c.4419C>T (p.Arg1473=) c.4398C>T (p.Arg1466=) c.4263C>T (p.Arg1421=) c.4203C>T (p.Arg1401=) c.4137C>T (p.Arg1379=) c.4134C>T (p.Arg1378=) c.4125C>T (p.Arg1375=) c.4068C>T (p.Arg1356=) c.3951C>T (p.Arg1317=) | |
3 | g.77644835A>C | CA353533688 | ROBO2 | c.4261A>C (p.Asn1421His) c.4252A>C (p.Asn1418His) c.4147A>C (p.Asn1383His) c.4339A>C (p.Asn1447His) c.*1009A>C (n.*1009A>C) c.4351A>C (p.Asn1451His) c.4525A>C (p.Asn1509His) c.*2499A>C (n.*2499A>C) c.4192A>C (p.Asn1398His) c.607A>C (p.Asn203His) c.4249A>C (p.Asn1417His) c.4066A>C (p.Asn1356His) n.6054A>C c.*2510A>C (n.*2510A>C) c.560A>C c.4114A>C (p.Asn1372His) c.524A>C c.3682A>C (p.Asn1228His) c.4078A>C (p.Asn1360His) c.2287A>C (p.Asn763His) c.4729A>C (p.Asn1577His) c.4603A>C (p.Asn1535His) c.4546A>C (p.Asn1516His) c.4273A>C (p.Asn1425His) c.4660A>C (p.Asn1554His) c.4594A>C (p.Asn1532His) c.4534A>C (p.Asn1512His) c.4420A>C (p.Asn1474His) c.4399A>C (p.Asn1467His) c.4264A>C (p.Asn1422His) c.4204A>C (p.Asn1402His) c.4138A>C (p.Asn1380His) c.4135A>C (p.Asn1379His) c.4126A>C (p.Asn1376His) c.4069A>C (p.Asn1357His) c.3952A>C (p.Asn1318His) | |
3 | g.77644835A>G | CA353533685 | ROBO2 | c.4261A>G (p.Asn1421Asp) c.4252A>G (p.Asn1418Asp) c.4147A>G (p.Asn1383Asp) c.4339A>G (p.Asn1447Asp) c.*1009A>G (n.*1009A>G) c.4351A>G (p.Asn1451Asp) c.4525A>G (p.Asn1509Asp) c.*2499A>G (n.*2499A>G) c.4192A>G (p.Asn1398Asp) c.607A>G (p.Asn203Asp) c.4249A>G (p.Asn1417Asp) c.4066A>G (p.Asn1356Asp) n.6054A>G c.*2510A>G (n.*2510A>G) c.560A>G c.4114A>G (p.Asn1372Asp) c.524A>G c.3682A>G (p.Asn1228Asp) c.4078A>G (p.Asn1360Asp) c.2287A>G (p.Asn763Asp) c.4729A>G (p.Asn1577Asp) c.4603A>G (p.Asn1535Asp) c.4546A>G (p.Asn1516Asp) c.4273A>G (p.Asn1425Asp) c.4660A>G (p.Asn1554Asp) c.4594A>G (p.Asn1532Asp) c.4534A>G (p.Asn1512Asp) c.4420A>G (p.Asn1474Asp) c.4399A>G (p.Asn1467Asp) c.4264A>G (p.Asn1422Asp) c.4204A>G (p.Asn1402Asp) c.4138A>G (p.Asn1380Asp) c.4135A>G (p.Asn1379Asp) c.4126A>G (p.Asn1376Asp) c.4069A>G (p.Asn1357Asp) c.3952A>G (p.Asn1318Asp) | |
3 | g.77644835A>T | CA353533687 | ROBO2 | c.4261A>T (p.Asn1421Tyr) c.4252A>T (p.Asn1418Tyr) c.4147A>T (p.Asn1383Tyr) c.4339A>T (p.Asn1447Tyr) c.*1009A>T (n.*1009A>T) c.4351A>T (p.Asn1451Tyr) c.4525A>T (p.Asn1509Tyr) c.*2499A>T (n.*2499A>T) c.4192A>T (p.Asn1398Tyr) c.607A>T (p.Asn203Tyr) c.4249A>T (p.Asn1417Tyr) c.4066A>T (p.Asn1356Tyr) n.6054A>T c.*2510A>T (n.*2510A>T) c.560A>T c.4114A>T (p.Asn1372Tyr) c.524A>T c.3682A>T (p.Asn1228Tyr) c.4078A>T (p.Asn1360Tyr) c.2287A>T (p.Asn763Tyr) c.4729A>T (p.Asn1577Tyr) c.4603A>T (p.Asn1535Tyr) c.4546A>T (p.Asn1516Tyr) c.4273A>T (p.Asn1425Tyr) c.4660A>T (p.Asn1554Tyr) c.4594A>T (p.Asn1532Tyr) c.4534A>T (p.Asn1512Tyr) c.4420A>T (p.Asn1474Tyr) c.4399A>T (p.Asn1467Tyr) c.4264A>T (p.Asn1422Tyr) c.4204A>T (p.Asn1402Tyr) c.4138A>T (p.Asn1380Tyr) c.4135A>T (p.Asn1379Tyr) c.4126A>T (p.Asn1376Tyr) c.4069A>T (p.Asn1357Tyr) c.3952A>T (p.Asn1318Tyr) | |
3 | g.77644836A= | CA1376777968 | ROBO2 | c.4262A= (p.Asn1421=) c.4253A= (p.Asn1418=) c.4148A= (p.Asn1383=) c.4340A= (p.Asn1447=) c.*1010A= (n.*1010A=) c.4352A= (p.Asn1451=) c.4526A= (p.Asn1509=) c.*2500A= (n.*2500A=) c.4193A= (p.Asn1398=) c.608A= (p.Asn203=) c.4250A= (p.Asn1417=) c.4067A= (p.Asn1356=) n.6055A= c.*2511A= (n.*2511A=) c.561A= c.4115A= (p.Asn1372=) c.525A= c.3683A= (p.Asn1228=) c.4079A= (p.Asn1360=) c.2288A= (p.Asn763=) c.4730A= (p.Asn1577=) c.4604A= (p.Asn1535=) c.4547A= (p.Asn1516=) c.4274A= (p.Asn1425=) c.4661A= (p.Asn1554=) c.4595A= (p.Asn1532=) c.4535A= (p.Asn1512=) c.4421A= (p.Asn1474=) c.4400A= (p.Asn1467=) c.4265A= (p.Asn1422=) c.4205A= (p.Asn1402=) c.4139A= (p.Asn1380=) c.4136A= (p.Asn1379=) c.4127A= (p.Asn1376=) c.4070A= (p.Asn1357=) c.3953A= (p.Asn1318=) | |
3 | g.77644836A>C | CA353533690 | ROBO2 | c.4262A>C (p.Asn1421Thr) c.4253A>C (p.Asn1418Thr) c.4148A>C (p.Asn1383Thr) c.4340A>C (p.Asn1447Thr) c.*1010A>C (n.*1010A>C) c.4352A>C (p.Asn1451Thr) c.4526A>C (p.Asn1509Thr) c.*2500A>C (n.*2500A>C) c.4193A>C (p.Asn1398Thr) c.608A>C (p.Asn203Thr) c.4250A>C (p.Asn1417Thr) c.4067A>C (p.Asn1356Thr) n.6055A>C c.*2511A>C (n.*2511A>C) c.561A>C c.4115A>C (p.Asn1372Thr) c.525A>C c.3683A>C (p.Asn1228Thr) c.4079A>C (p.Asn1360Thr) c.2288A>C (p.Asn763Thr) c.4730A>C (p.Asn1577Thr) c.4604A>C (p.Asn1535Thr) c.4547A>C (p.Asn1516Thr) c.4274A>C (p.Asn1425Thr) c.4661A>C (p.Asn1554Thr) c.4595A>C (p.Asn1532Thr) c.4535A>C (p.Asn1512Thr) c.4421A>C (p.Asn1474Thr) c.4400A>C (p.Asn1467Thr) c.4265A>C (p.Asn1422Thr) c.4205A>C (p.Asn1402Thr) c.4139A>C (p.Asn1380Thr) c.4136A>C (p.Asn1379Thr) c.4127A>C (p.Asn1376Thr) c.4070A>C (p.Asn1357Thr) c.3953A>C (p.Asn1318Thr) | |
3 | g.77644836A>G | CA2497837 | ROBO2 | c.4262A>G (p.Asn1421Ser) c.4253A>G (p.Asn1418Ser) c.4148A>G (p.Asn1383Ser) c.4340A>G (p.Asn1447Ser) c.*1010A>G (n.*1010A>G) c.4352A>G (p.Asn1451Ser) c.4526A>G (p.Asn1509Ser) c.*2500A>G (n.*2500A>G) c.4193A>G (p.Asn1398Ser) c.608A>G (p.Asn203Ser) c.4250A>G (p.Asn1417Ser) c.4067A>G (p.Asn1356Ser) n.6055A>G c.*2511A>G (n.*2511A>G) c.561A>G c.4115A>G (p.Asn1372Ser) c.525A>G c.3683A>G (p.Asn1228Ser) c.4079A>G (p.Asn1360Ser) c.2288A>G (p.Asn763Ser) c.4730A>G (p.Asn1577Ser) c.4604A>G (p.Asn1535Ser) c.4547A>G (p.Asn1516Ser) c.4274A>G (p.Asn1425Ser) c.4661A>G (p.Asn1554Ser) c.4595A>G (p.Asn1532Ser) c.4535A>G (p.Asn1512Ser) c.4421A>G (p.Asn1474Ser) c.4400A>G (p.Asn1467Ser) c.4265A>G (p.Asn1422Ser) c.4205A>G (p.Asn1402Ser) c.4139A>G (p.Asn1380Ser) c.4136A>G (p.Asn1379Ser) c.4127A>G (p.Asn1376Ser) c.4070A>G (p.Asn1357Ser) c.3953A>G (p.Asn1318Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77644836A>T | CA353533692 | ROBO2 | c.4262A>T (p.Asn1421Ile) c.4253A>T (p.Asn1418Ile) c.4148A>T (p.Asn1383Ile) c.4340A>T (p.Asn1447Ile) c.*1010A>T (n.*1010A>T) c.4352A>T (p.Asn1451Ile) c.4526A>T (p.Asn1509Ile) c.*2500A>T (n.*2500A>T) c.4193A>T (p.Asn1398Ile) c.608A>T (p.Asn203Ile) c.4250A>T (p.Asn1417Ile) c.4067A>T (p.Asn1356Ile) n.6055A>T c.*2511A>T (n.*2511A>T) c.561A>T c.4115A>T (p.Asn1372Ile) c.525A>T c.3683A>T (p.Asn1228Ile) c.4079A>T (p.Asn1360Ile) c.2288A>T (p.Asn763Ile) c.4730A>T (p.Asn1577Ile) c.4604A>T (p.Asn1535Ile) c.4547A>T (p.Asn1516Ile) c.4274A>T (p.Asn1425Ile) c.4661A>T (p.Asn1554Ile) c.4595A>T (p.Asn1532Ile) c.4535A>T (p.Asn1512Ile) c.4421A>T (p.Asn1474Ile) c.4400A>T (p.Asn1467Ile) c.4265A>T (p.Asn1422Ile) c.4205A>T (p.Asn1402Ile) c.4139A>T (p.Asn1380Ile) c.4136A>T (p.Asn1379Ile) c.4127A>T (p.Asn1376Ile) c.4070A>T (p.Asn1357Ile) c.3953A>T (p.Asn1318Ile) | |
3 | g.77644837T>A | CA353533694 | ROBO2 | c.4263T>A (p.Asn1421Lys) c.4254T>A (p.Asn1418Lys) c.4149T>A (p.Asn1383Lys) c.4341T>A (p.Asn1447Lys) c.*1011T>A (n.*1011T>A) c.4353T>A (p.Asn1451Lys) c.4527T>A (p.Asn1509Lys) c.*2501T>A (n.*2501T>A) c.4194T>A (p.Asn1398Lys) c.609T>A (p.Asn203Lys) c.4251T>A (p.Asn1417Lys) c.4068T>A (p.Asn1356Lys) n.6056T>A c.*2512T>A (n.*2512T>A) c.562T>A c.4116T>A (p.Asn1372Lys) c.526T>A c.3684T>A (p.Asn1228Lys) c.4080T>A (p.Asn1360Lys) c.2289T>A (p.Asn763Lys) c.4731T>A (p.Asn1577Lys) c.4605T>A (p.Asn1535Lys) c.4548T>A (p.Asn1516Lys) c.4275T>A (p.Asn1425Lys) c.4662T>A (p.Asn1554Lys) c.4596T>A (p.Asn1532Lys) c.4536T>A (p.Asn1512Lys) c.4422T>A (p.Asn1474Lys) c.4401T>A (p.Asn1467Lys) c.4266T>A (p.Asn1422Lys) c.4206T>A (p.Asn1402Lys) c.4140T>A (p.Asn1380Lys) c.4137T>A (p.Asn1379Lys) c.4128T>A (p.Asn1376Lys) c.4071T>A (p.Asn1357Lys) c.3954T>A (p.Asn1318Lys) | |
3 | g.77644837T>C | CA434435328 | ROBO2 | c.4263T>C (p.Asn1421=) c.4254T>C (p.Asn1418=) c.4149T>C (p.Asn1383=) c.4341T>C (p.Asn1447=) c.*1011T>C (n.*1011T>C) c.4353T>C (p.Asn1451=) c.4527T>C (p.Asn1509=) c.*2501T>C (n.*2501T>C) c.4194T>C (p.Asn1398=) c.609T>C (p.Asn203=) c.4251T>C (p.Asn1417=) c.4068T>C (p.Asn1356=) n.6056T>C c.*2512T>C (n.*2512T>C) c.562T>C c.4116T>C (p.Asn1372=) c.526T>C c.3684T>C (p.Asn1228=) c.4080T>C (p.Asn1360=) c.2289T>C (p.Asn763=) c.4731T>C (p.Asn1577=) c.4605T>C (p.Asn1535=) c.4548T>C (p.Asn1516=) c.4275T>C (p.Asn1425=) c.4662T>C (p.Asn1554=) c.4596T>C (p.Asn1532=) c.4536T>C (p.Asn1512=) c.4422T>C (p.Asn1474=) c.4401T>C (p.Asn1467=) c.4266T>C (p.Asn1422=) c.4206T>C (p.Asn1402=) c.4140T>C (p.Asn1380=) c.4137T>C (p.Asn1379=) c.4128T>C (p.Asn1376=) c.4071T>C (p.Asn1357=) c.3954T>C (p.Asn1318=) | |
3 | g.77644837T>G | CA353533696 | ROBO2 | c.4263T>G (p.Asn1421Lys) c.4254T>G (p.Asn1418Lys) c.4149T>G (p.Asn1383Lys) c.4341T>G (p.Asn1447Lys) c.*1011T>G (n.*1011T>G) c.4353T>G (p.Asn1451Lys) c.4527T>G (p.Asn1509Lys) c.*2501T>G (n.*2501T>G) c.4194T>G (p.Asn1398Lys) c.609T>G (p.Asn203Lys) c.4251T>G (p.Asn1417Lys) c.4068T>G (p.Asn1356Lys) n.6056T>G c.*2512T>G (n.*2512T>G) c.562T>G c.4116T>G (p.Asn1372Lys) c.526T>G c.3684T>G (p.Asn1228Lys) c.4080T>G (p.Asn1360Lys) c.2289T>G (p.Asn763Lys) c.4731T>G (p.Asn1577Lys) c.4605T>G (p.Asn1535Lys) c.4548T>G (p.Asn1516Lys) c.4275T>G (p.Asn1425Lys) c.4662T>G (p.Asn1554Lys) c.4596T>G (p.Asn1532Lys) c.4536T>G (p.Asn1512Lys) c.4422T>G (p.Asn1474Lys) c.4401T>G (p.Asn1467Lys) c.4266T>G (p.Asn1422Lys) c.4206T>G (p.Asn1402Lys) c.4140T>G (p.Asn1380Lys) c.4137T>G (p.Asn1379Lys) c.4128T>G (p.Asn1376Lys) c.4071T>G (p.Asn1357Lys) c.3954T>G (p.Asn1318Lys) | |
3 | g.77644838G>A | CA353533702 | ROBO2 | c.4264G>A (p.Ala1422Thr) c.4255G>A (p.Ala1419Thr) c.4150G>A (p.Ala1384Thr) c.4342G>A (p.Ala1448Thr) c.*1012G>A (n.*1012G>A) c.4354G>A (p.Ala1452Thr) c.4528G>A (p.Ala1510Thr) c.*2502G>A (n.*2502G>A) c.4195G>A (p.Ala1399Thr) c.610G>A (p.Ala204Thr) c.4252G>A (p.Ala1418Thr) c.4069G>A (p.Ala1357Thr) n.6057G>A c.*2513G>A (n.*2513G>A) c.563G>A c.4117G>A (p.Ala1373Thr) c.527G>A c.3685G>A (p.Ala1229Thr) c.4081G>A (p.Ala1361Thr) c.2290G>A (p.Ala764Thr) c.4732G>A (p.Ala1578Thr) c.4606G>A (p.Ala1536Thr) c.4549G>A (p.Ala1517Thr) c.4276G>A (p.Ala1426Thr) c.4663G>A (p.Ala1555Thr) c.4597G>A (p.Ala1533Thr) c.4537G>A (p.Ala1513Thr) c.4423G>A (p.Ala1475Thr) c.4402G>A (p.Ala1468Thr) c.4267G>A (p.Ala1423Thr) c.4207G>A (p.Ala1403Thr) c.4141G>A (p.Ala1381Thr) c.4138G>A (p.Ala1380Thr) c.4129G>A (p.Ala1377Thr) c.4072G>A (p.Ala1358Thr) c.3955G>A (p.Ala1319Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.77644838G>C | CA353533698 | ROBO2 | c.4264G>C (p.Ala1422Pro) c.4255G>C (p.Ala1419Pro) c.4150G>C (p.Ala1384Pro) c.4342G>C (p.Ala1448Pro) c.*1012G>C (n.*1012G>C) c.4354G>C (p.Ala1452Pro) c.4528G>C (p.Ala1510Pro) c.*2502G>C (n.*2502G>C) c.4195G>C (p.Ala1399Pro) c.610G>C (p.Ala204Pro) c.4252G>C (p.Ala1418Pro) c.4069G>C (p.Ala1357Pro) n.6057G>C c.*2513G>C (n.*2513G>C) c.563G>C c.4117G>C (p.Ala1373Pro) c.527G>C c.3685G>C (p.Ala1229Pro) c.4081G>C (p.Ala1361Pro) c.2290G>C (p.Ala764Pro) c.4732G>C (p.Ala1578Pro) c.4606G>C (p.Ala1536Pro) c.4549G>C (p.Ala1517Pro) c.4276G>C (p.Ala1426Pro) c.4663G>C (p.Ala1555Pro) c.4597G>C (p.Ala1533Pro) c.4537G>C (p.Ala1513Pro) c.4423G>C (p.Ala1475Pro) c.4402G>C (p.Ala1468Pro) c.4267G>C (p.Ala1423Pro) c.4207G>C (p.Ala1403Pro) c.4141G>C (p.Ala1381Pro) c.4138G>C (p.Ala1380Pro) c.4129G>C (p.Ala1377Pro) c.4072G>C (p.Ala1358Pro) c.3955G>C (p.Ala1319Pro) | |
3 | g.77644838G= | CA1376777969 | ROBO2 | c.4264G= (p.Ala1422=) c.4255G= (p.Ala1419=) c.4150G= (p.Ala1384=) c.4342G= (p.Ala1448=) c.*1012G= (n.*1012G=) c.4354G= (p.Ala1452=) c.4528G= (p.Ala1510=) c.*2502G= (n.*2502G=) c.4195G= (p.Ala1399=) c.610G= (p.Ala204=) c.4252G= (p.Ala1418=) c.4069G= (p.Ala1357=) n.6057G= c.*2513G= (n.*2513G=) c.563G= c.4117G= (p.Ala1373=) c.527G= c.3685G= (p.Ala1229=) c.4081G= (p.Ala1361=) c.2290G= (p.Ala764=) c.4732G= (p.Ala1578=) c.4606G= (p.Ala1536=) c.4549G= (p.Ala1517=) c.4276G= (p.Ala1426=) c.4663G= (p.Ala1555=) c.4597G= (p.Ala1533=) c.4537G= (p.Ala1513=) c.4423G= (p.Ala1475=) c.4402G= (p.Ala1468=) c.4267G= (p.Ala1423=) c.4207G= (p.Ala1403=) c.4141G= (p.Ala1381=) c.4138G= (p.Ala1380=) c.4129G= (p.Ala1377=) c.4072G= (p.Ala1358=) c.3955G= (p.Ala1319=) | |
3 | g.77644838G>T | CA353533700 | ROBO2 | c.4264G>T (p.Ala1422Ser) c.4255G>T (p.Ala1419Ser) c.4150G>T (p.Ala1384Ser) c.4342G>T (p.Ala1448Ser) c.*1012G>T (n.*1012G>T) c.4354G>T (p.Ala1452Ser) c.4528G>T (p.Ala1510Ser) c.*2502G>T (n.*2502G>T) c.4195G>T (p.Ala1399Ser) c.610G>T (p.Ala204Ser) c.4252G>T (p.Ala1418Ser) c.4069G>T (p.Ala1357Ser) n.6057G>T c.*2513G>T (n.*2513G>T) c.563G>T c.4117G>T (p.Ala1373Ser) c.527G>T c.3685G>T (p.Ala1229Ser) c.4081G>T (p.Ala1361Ser) c.2290G>T (p.Ala764Ser) c.4732G>T (p.Ala1578Ser) c.4606G>T (p.Ala1536Ser) c.4549G>T (p.Ala1517Ser) c.4276G>T (p.Ala1426Ser) c.4663G>T (p.Ala1555Ser) c.4597G>T (p.Ala1533Ser) c.4537G>T (p.Ala1513Ser) c.4423G>T (p.Ala1475Ser) c.4402G>T (p.Ala1468Ser) c.4267G>T (p.Ala1423Ser) c.4207G>T (p.Ala1403Ser) c.4141G>T (p.Ala1381Ser) c.4138G>T (p.Ala1380Ser) c.4129G>T (p.Ala1377Ser) c.4072G>T (p.Ala1358Ser) c.3955G>T (p.Ala1319Ser) | |
3 | g.77644839C>A | CA353533704 | ROBO2 | c.4265C>A (p.Ala1422Asp) c.4256C>A (p.Ala1419Asp) c.4151C>A (p.Ala1384Asp) c.4343C>A (p.Ala1448Asp) c.*1013C>A (n.*1013C>A) c.4355C>A (p.Ala1452Asp) c.4529C>A (p.Ala1510Asp) c.*2503C>A (n.*2503C>A) c.4196C>A (p.Ala1399Asp) c.611C>A (p.Ala204Asp) c.4253C>A (p.Ala1418Asp) c.4070C>A (p.Ala1357Asp) n.6058C>A c.*2514C>A (n.*2514C>A) c.564C>A c.4118C>A (p.Ala1373Asp) c.528C>A c.3686C>A (p.Ala1229Asp) c.4082C>A (p.Ala1361Asp) c.2291C>A (p.Ala764Asp) c.4733C>A (p.Ala1578Asp) c.4607C>A (p.Ala1536Asp) c.4550C>A (p.Ala1517Asp) c.4277C>A (p.Ala1426Asp) c.4664C>A (p.Ala1555Asp) c.4598C>A (p.Ala1533Asp) c.4538C>A (p.Ala1513Asp) c.4424C>A (p.Ala1475Asp) c.4403C>A (p.Ala1468Asp) c.4268C>A (p.Ala1423Asp) c.4208C>A (p.Ala1403Asp) c.4142C>A (p.Ala1381Asp) c.4139C>A (p.Ala1380Asp) c.4130C>A (p.Ala1377Asp) c.4073C>A (p.Ala1358Asp) c.3956C>A (p.Ala1319Asp) | gnomAD v4 |
3 | g.77644839C= | CA1376777970 | ROBO2 | c.4265C= (p.Ala1422=) c.4256C= (p.Ala1419=) c.4151C= (p.Ala1384=) c.4343C= (p.Ala1448=) c.*1013C= (n.*1013C=) c.4355C= (p.Ala1452=) c.4529C= (p.Ala1510=) c.*2503C= (n.*2503C=) c.4196C= (p.Ala1399=) c.611C= (p.Ala204=) c.4253C= (p.Ala1418=) c.4070C= (p.Ala1357=) n.6058C= c.*2514C= (n.*2514C=) c.564C= c.4118C= (p.Ala1373=) c.528C= c.3686C= (p.Ala1229=) c.4082C= (p.Ala1361=) c.2291C= (p.Ala764=) c.4733C= (p.Ala1578=) c.4607C= (p.Ala1536=) c.4550C= (p.Ala1517=) c.4277C= (p.Ala1426=) c.4664C= (p.Ala1555=) c.4598C= (p.Ala1533=) c.4538C= (p.Ala1513=) c.4424C= (p.Ala1475=) c.4403C= (p.Ala1468=) c.4268C= (p.Ala1423=) c.4208C= (p.Ala1403=) c.4142C= (p.Ala1381=) c.4139C= (p.Ala1380=) c.4130C= (p.Ala1377=) c.4073C= (p.Ala1358=) c.3956C= (p.Ala1319=) | |
3 | g.77644839C>G | CA353533705 | ROBO2 | c.4265C>G (p.Ala1422Gly) c.4256C>G (p.Ala1419Gly) c.4151C>G (p.Ala1384Gly) c.4343C>G (p.Ala1448Gly) c.*1013C>G (n.*1013C>G) c.4355C>G (p.Ala1452Gly) c.4529C>G (p.Ala1510Gly) c.*2503C>G (n.*2503C>G) c.4196C>G (p.Ala1399Gly) c.611C>G (p.Ala204Gly) c.4253C>G (p.Ala1418Gly) c.4070C>G (p.Ala1357Gly) n.6058C>G c.*2514C>G (n.*2514C>G) c.564C>G c.4118C>G (p.Ala1373Gly) c.528C>G c.3686C>G (p.Ala1229Gly) c.4082C>G (p.Ala1361Gly) c.2291C>G (p.Ala764Gly) c.4733C>G (p.Ala1578Gly) c.4607C>G (p.Ala1536Gly) c.4550C>G (p.Ala1517Gly) c.4277C>G (p.Ala1426Gly) c.4664C>G (p.Ala1555Gly) c.4598C>G (p.Ala1533Gly) c.4538C>G (p.Ala1513Gly) c.4424C>G (p.Ala1475Gly) c.4403C>G (p.Ala1468Gly) c.4268C>G (p.Ala1423Gly) c.4208C>G (p.Ala1403Gly) c.4142C>G (p.Ala1381Gly) c.4139C>G (p.Ala1380Gly) c.4130C>G (p.Ala1377Gly) c.4073C>G (p.Ala1358Gly) c.3956C>G (p.Ala1319Gly) | |
3 | g.77644839C>T | CA2497838 | ROBO2 | c.4265C>T (p.Ala1422Val) c.4256C>T (p.Ala1419Val) c.4151C>T (p.Ala1384Val) c.4343C>T (p.Ala1448Val) c.*1013C>T (n.*1013C>T) c.4355C>T (p.Ala1452Val) c.4529C>T (p.Ala1510Val) c.*2503C>T (n.*2503C>T) c.4196C>T (p.Ala1399Val) c.611C>T (p.Ala204Val) c.4253C>T (p.Ala1418Val) c.4070C>T (p.Ala1357Val) n.6058C>T c.*2514C>T (n.*2514C>T) c.564C>T c.4118C>T (p.Ala1373Val) c.528C>T c.3686C>T (p.Ala1229Val) c.4082C>T (p.Ala1361Val) c.2291C>T (p.Ala764Val) c.4733C>T (p.Ala1578Val) c.4607C>T (p.Ala1536Val) c.4550C>T (p.Ala1517Val) c.4277C>T (p.Ala1426Val) c.4664C>T (p.Ala1555Val) c.4598C>T (p.Ala1533Val) c.4538C>T (p.Ala1513Val) c.4424C>T (p.Ala1475Val) c.4403C>T (p.Ala1468Val) c.4268C>T (p.Ala1423Val) c.4208C>T (p.Ala1403Val) c.4142C>T (p.Ala1381Val) c.4139C>T (p.Ala1380Val) c.4130C>T (p.Ala1377Val) c.4073C>T (p.Ala1358Val) c.3956C>T (p.Ala1319Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.77644840C>A | CA434435332 | ROBO2 | c.4266C>A (p.Ala1422=) c.4257C>A (p.Ala1419=) c.4152C>A (p.Ala1384=) c.4344C>A (p.Ala1448=) c.*1014C>A (n.*1014C>A) c.4356C>A (p.Ala1452=) c.4530C>A (p.Ala1510=) c.*2504C>A (n.*2504C>A) c.4197C>A (p.Ala1399=) c.612C>A (p.Ala204=) c.4254C>A (p.Ala1418=) c.4071C>A (p.Ala1357=) n.6059C>A c.*2515C>A (n.*2515C>A) c.565C>A c.4119C>A (p.Ala1373=) c.529C>A c.3687C>A (p.Ala1229=) c.4083C>A (p.Ala1361=) c.2292C>A (p.Ala764=) c.4734C>A (p.Ala1578=) c.4608C>A (p.Ala1536=) c.4551C>A (p.Ala1517=) c.4278C>A (p.Ala1426=) c.4665C>A (p.Ala1555=) c.4599C>A (p.Ala1533=) c.4539C>A (p.Ala1513=) c.4425C>A (p.Ala1475=) c.4404C>A (p.Ala1468=) c.4269C>A (p.Ala1423=) c.4209C>A (p.Ala1403=) c.4143C>A (p.Ala1381=) c.4140C>A (p.Ala1380=) c.4131C>A (p.Ala1377=) c.4074C>A (p.Ala1358=) c.3957C>A (p.Ala1319=) | |
3 | g.77644840C>G | CA434435330 | ROBO2 | c.4266C>G (p.Ala1422=) c.4257C>G (p.Ala1419=) c.4152C>G (p.Ala1384=) c.4344C>G (p.Ala1448=) c.*1014C>G (n.*1014C>G) c.4356C>G (p.Ala1452=) c.4530C>G (p.Ala1510=) c.*2504C>G (n.*2504C>G) c.4197C>G (p.Ala1399=) c.612C>G (p.Ala204=) c.4254C>G (p.Ala1418=) c.4071C>G (p.Ala1357=) n.6059C>G c.*2515C>G (n.*2515C>G) c.565C>G c.4119C>G (p.Ala1373=) c.529C>G c.3687C>G (p.Ala1229=) c.4083C>G (p.Ala1361=) c.2292C>G (p.Ala764=) c.4734C>G (p.Ala1578=) c.4608C>G (p.Ala1536=) c.4551C>G (p.Ala1517=) c.4278C>G (p.Ala1426=) c.4665C>G (p.Ala1555=) c.4599C>G (p.Ala1533=) c.4539C>G (p.Ala1513=) c.4425C>G (p.Ala1475=) c.4404C>G (p.Ala1468=) c.4269C>G (p.Ala1423=) c.4209C>G (p.Ala1403=) c.4143C>G (p.Ala1381=) c.4140C>G (p.Ala1380=) c.4131C>G (p.Ala1377=) c.4074C>G (p.Ala1358=) c.3957C>G (p.Ala1319=) | |
3 | g.77644840C>T | CA434435331 | ROBO2 | c.4266C>T (p.Ala1422=) c.4257C>T (p.Ala1419=) c.4152C>T (p.Ala1384=) c.4344C>T (p.Ala1448=) c.*1014C>T (n.*1014C>T) c.4356C>T (p.Ala1452=) c.4530C>T (p.Ala1510=) c.*2504C>T (n.*2504C>T) c.4197C>T (p.Ala1399=) c.612C>T (p.Ala204=) c.4254C>T (p.Ala1418=) c.4071C>T (p.Ala1357=) n.6059C>T c.*2515C>T (n.*2515C>T) c.565C>T c.4119C>T (p.Ala1373=) c.529C>T c.3687C>T (p.Ala1229=) c.4083C>T (p.Ala1361=) c.2292C>T (p.Ala764=) c.4734C>T (p.Ala1578=) c.4608C>T (p.Ala1536=) c.4551C>T (p.Ala1517=) c.4278C>T (p.Ala1426=) c.4665C>T (p.Ala1555=) c.4599C>T (p.Ala1533=) c.4539C>T (p.Ala1513=) c.4425C>T (p.Ala1475=) c.4404C>T (p.Ala1468=) c.4269C>T (p.Ala1423=) c.4209C>T (p.Ala1403=) c.4143C>T (p.Ala1381=) c.4140C>T (p.Ala1380=) c.4131C>T (p.Ala1377=) c.4074C>T (p.Ala1358=) c.3957C>T (p.Ala1319=) | gnomAD v4 |
3 | g.77644841A= | CA1376777971 | ROBO2 | c.4267A= (p.Ser1423=) c.4258A= (p.Ser1420=) c.4153A= (p.Ser1385=) c.4345A= (p.Ser1449=) c.*1015A= (n.*1015A=) c.4357A= (p.Ser1453=) c.4531A= (p.Ser1511=) c.*2505A= (n.*2505A=) c.4198A= (p.Ser1400=) c.613A= (p.Ser205=) c.4255A= (p.Ser1419=) c.4072A= (p.Ser1358=) n.6060A= c.*2516A= (n.*2516A=) c.566A= c.4120A= (p.Ser1374=) c.530A= c.3688A= (p.Ser1230=) c.4084A= (p.Ser1362=) c.2293A= (p.Ser765=) c.4735A= (p.Ser1579=) c.4609A= (p.Ser1537=) c.4552A= (p.Ser1518=) c.4279A= (p.Ser1427=) c.4666A= (p.Ser1556=) c.4600A= (p.Ser1534=) c.4540A= (p.Ser1514=) c.4426A= (p.Ser1476=) c.4405A= (p.Ser1469=) c.4270A= (p.Ser1424=) c.4210A= (p.Ser1404=) c.4144A= (p.Ser1382=) c.4141A= (p.Ser1381=) c.4132A= (p.Ser1378=) c.4075A= (p.Ser1359=) c.3958A= (p.Ser1320=) | |
3 | g.77644841A>C | CA353533708 | ROBO2 | c.4267A>C (p.Ser1423Arg) c.4258A>C (p.Ser1420Arg) c.4153A>C (p.Ser1385Arg) c.4345A>C (p.Ser1449Arg) c.*1015A>C (n.*1015A>C) c.4357A>C (p.Ser1453Arg) c.4531A>C (p.Ser1511Arg) c.*2505A>C (n.*2505A>C) c.4198A>C (p.Ser1400Arg) c.613A>C (p.Ser205Arg) c.4255A>C (p.Ser1419Arg) c.4072A>C (p.Ser1358Arg) n.6060A>C c.*2516A>C (n.*2516A>C) c.566A>C c.4120A>C (p.Ser1374Arg) c.530A>C c.3688A>C (p.Ser1230Arg) c.4084A>C (p.Ser1362Arg) c.2293A>C (p.Ser765Arg) c.4735A>C (p.Ser1579Arg) c.4609A>C (p.Ser1537Arg) c.4552A>C (p.Ser1518Arg) c.4279A>C (p.Ser1427Arg) c.4666A>C (p.Ser1556Arg) c.4600A>C (p.Ser1534Arg) c.4540A>C (p.Ser1514Arg) c.4426A>C (p.Ser1476Arg) c.4405A>C (p.Ser1469Arg) c.4270A>C (p.Ser1424Arg) c.4210A>C (p.Ser1404Arg) c.4144A>C (p.Ser1382Arg) c.4141A>C (p.Ser1381Arg) c.4132A>C (p.Ser1378Arg) c.4075A>C (p.Ser1359Arg) c.3958A>C (p.Ser1320Arg) | |
3 | g.77644841A>G | CA353533710 | ROBO2 | c.4267A>G (p.Ser1423Gly) c.4258A>G (p.Ser1420Gly) c.4153A>G (p.Ser1385Gly) c.4345A>G (p.Ser1449Gly) c.*1015A>G (n.*1015A>G) c.4357A>G (p.Ser1453Gly) c.4531A>G (p.Ser1511Gly) c.*2505A>G (n.*2505A>G) c.4198A>G (p.Ser1400Gly) c.613A>G (p.Ser205Gly) c.4255A>G (p.Ser1419Gly) c.4072A>G (p.Ser1358Gly) n.6060A>G c.*2516A>G (n.*2516A>G) c.566A>G c.4120A>G (p.Ser1374Gly) c.530A>G c.3688A>G (p.Ser1230Gly) c.4084A>G (p.Ser1362Gly) c.2293A>G (p.Ser765Gly) c.4735A>G (p.Ser1579Gly) c.4609A>G (p.Ser1537Gly) c.4552A>G (p.Ser1518Gly) c.4279A>G (p.Ser1427Gly) c.4666A>G (p.Ser1556Gly) c.4600A>G (p.Ser1534Gly) c.4540A>G (p.Ser1514Gly) c.4426A>G (p.Ser1476Gly) c.4405A>G (p.Ser1469Gly) c.4270A>G (p.Ser1424Gly) c.4210A>G (p.Ser1404Gly) c.4144A>G (p.Ser1382Gly) c.4141A>G (p.Ser1381Gly) c.4132A>G (p.Ser1378Gly) c.4075A>G (p.Ser1359Gly) c.3958A>G (p.Ser1320Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77644841A>T | CA353533712 | ROBO2 | c.4267A>T (p.Ser1423Cys) c.4258A>T (p.Ser1420Cys) c.4153A>T (p.Ser1385Cys) c.4345A>T (p.Ser1449Cys) c.*1015A>T (n.*1015A>T) c.4357A>T (p.Ser1453Cys) c.4531A>T (p.Ser1511Cys) c.*2505A>T (n.*2505A>T) c.4198A>T (p.Ser1400Cys) c.613A>T (p.Ser205Cys) c.4255A>T (p.Ser1419Cys) c.4072A>T (p.Ser1358Cys) n.6060A>T c.*2516A>T (n.*2516A>T) c.566A>T c.4120A>T (p.Ser1374Cys) c.530A>T c.3688A>T (p.Ser1230Cys) c.4084A>T (p.Ser1362Cys) c.2293A>T (p.Ser765Cys) c.4735A>T (p.Ser1579Cys) c.4609A>T (p.Ser1537Cys) c.4552A>T (p.Ser1518Cys) c.4279A>T (p.Ser1427Cys) c.4666A>T (p.Ser1556Cys) c.4600A>T (p.Ser1534Cys) c.4540A>T (p.Ser1514Cys) c.4426A>T (p.Ser1476Cys) c.4405A>T (p.Ser1469Cys) c.4270A>T (p.Ser1424Cys) c.4210A>T (p.Ser1404Cys) c.4144A>T (p.Ser1382Cys) c.4141A>T (p.Ser1381Cys) c.4132A>T (p.Ser1378Cys) c.4075A>T (p.Ser1359Cys) c.3958A>T (p.Ser1320Cys) | |
3 | g.77644842G>A | CA353533714 | ROBO2 | c.4268G>A (p.Ser1423Asn) c.4259G>A (p.Ser1420Asn) c.4154G>A (p.Ser1385Asn) c.4346G>A (p.Ser1449Asn) c.*1016G>A (n.*1016G>A) c.4358G>A (p.Ser1453Asn) c.4532G>A (p.Ser1511Asn) c.*2506G>A (n.*2506G>A) c.4199G>A (p.Ser1400Asn) c.614G>A (p.Ser205Asn) c.4256G>A (p.Ser1419Asn) c.4073G>A (p.Ser1358Asn) n.6061G>A c.*2517G>A (n.*2517G>A) c.567G>A c.4121G>A (p.Ser1374Asn) c.531G>A c.3689G>A (p.Ser1230Asn) c.4085G>A (p.Ser1362Asn) c.2294G>A (p.Ser765Asn) c.4736G>A (p.Ser1579Asn) c.4610G>A (p.Ser1537Asn) c.4553G>A (p.Ser1518Asn) c.4280G>A (p.Ser1427Asn) c.4667G>A (p.Ser1556Asn) c.4601G>A (p.Ser1534Asn) c.4541G>A (p.Ser1514Asn) c.4427G>A (p.Ser1476Asn) c.4406G>A (p.Ser1469Asn) c.4271G>A (p.Ser1424Asn) c.4211G>A (p.Ser1404Asn) c.4145G>A (p.Ser1382Asn) c.4142G>A (p.Ser1381Asn) c.4133G>A (p.Ser1378Asn) c.4076G>A (p.Ser1359Asn) c.3959G>A (p.Ser1320Asn) | gnomAD v4 |
3 | g.77644842G>C | CA353533716 | ROBO2 | c.4268G>C (p.Ser1423Thr) c.4259G>C (p.Ser1420Thr) c.4154G>C (p.Ser1385Thr) c.4346G>C (p.Ser1449Thr) c.*1016G>C (n.*1016G>C) c.4358G>C (p.Ser1453Thr) c.4532G>C (p.Ser1511Thr) c.*2506G>C (n.*2506G>C) c.4199G>C (p.Ser1400Thr) c.614G>C (p.Ser205Thr) c.4256G>C (p.Ser1419Thr) c.4073G>C (p.Ser1358Thr) n.6061G>C c.*2517G>C (n.*2517G>C) c.567G>C c.4121G>C (p.Ser1374Thr) c.531G>C c.3689G>C (p.Ser1230Thr) c.4085G>C (p.Ser1362Thr) c.2294G>C (p.Ser765Thr) c.4736G>C (p.Ser1579Thr) c.4610G>C (p.Ser1537Thr) c.4553G>C (p.Ser1518Thr) c.4280G>C (p.Ser1427Thr) c.4667G>C (p.Ser1556Thr) c.4601G>C (p.Ser1534Thr) c.4541G>C (p.Ser1514Thr) c.4427G>C (p.Ser1476Thr) c.4406G>C (p.Ser1469Thr) c.4271G>C (p.Ser1424Thr) c.4211G>C (p.Ser1404Thr) c.4145G>C (p.Ser1382Thr) c.4142G>C (p.Ser1381Thr) c.4133G>C (p.Ser1378Thr) c.4076G>C (p.Ser1359Thr) c.3959G>C (p.Ser1320Thr) | |
3 | g.77644842G>T | CA353533718 | ROBO2 | c.4268G>T (p.Ser1423Ile) c.4259G>T (p.Ser1420Ile) c.4154G>T (p.Ser1385Ile) c.4346G>T (p.Ser1449Ile) c.*1016G>T (n.*1016G>T) c.4358G>T (p.Ser1453Ile) c.4532G>T (p.Ser1511Ile) c.*2506G>T (n.*2506G>T) c.4199G>T (p.Ser1400Ile) c.614G>T (p.Ser205Ile) c.4256G>T (p.Ser1419Ile) c.4073G>T (p.Ser1358Ile) n.6061G>T c.*2517G>T (n.*2517G>T) c.567G>T c.4121G>T (p.Ser1374Ile) c.531G>T c.3689G>T (p.Ser1230Ile) c.4085G>T (p.Ser1362Ile) c.2294G>T (p.Ser765Ile) c.4736G>T (p.Ser1579Ile) c.4610G>T (p.Ser1537Ile) c.4553G>T (p.Ser1518Ile) c.4280G>T (p.Ser1427Ile) c.4667G>T (p.Ser1556Ile) c.4601G>T (p.Ser1534Ile) c.4541G>T (p.Ser1514Ile) c.4427G>T (p.Ser1476Ile) c.4406G>T (p.Ser1469Ile) c.4271G>T (p.Ser1424Ile) c.4211G>T (p.Ser1404Ile) c.4145G>T (p.Ser1382Ile) c.4142G>T (p.Ser1381Ile) c.4133G>T (p.Ser1378Ile) c.4076G>T (p.Ser1359Ile) c.3959G>T (p.Ser1320Ile) | |
3 | g.77644843C>A | CA353533720 | ROBO2 | c.4269C>A (p.Ser1423Arg) c.4260C>A (p.Ser1420Arg) c.4155C>A (p.Ser1385Arg) c.4347C>A (p.Ser1449Arg) c.*1017C>A (n.*1017C>A) c.4359C>A (p.Ser1453Arg) c.4533C>A (p.Ser1511Arg) c.*2507C>A (n.*2507C>A) c.4200C>A (p.Ser1400Arg) c.615C>A (p.Ser205Arg) c.4257C>A (p.Ser1419Arg) c.4074C>A (p.Ser1358Arg) n.6062C>A c.*2518C>A (n.*2518C>A) c.568C>A c.4122C>A (p.Ser1374Arg) c.532C>A c.3690C>A (p.Ser1230Arg) c.4086C>A (p.Ser1362Arg) c.2295C>A (p.Ser765Arg) c.4737C>A (p.Ser1579Arg) c.4611C>A (p.Ser1537Arg) c.4554C>A (p.Ser1518Arg) c.4281C>A (p.Ser1427Arg) c.4668C>A (p.Ser1556Arg) c.4602C>A (p.Ser1534Arg) c.4542C>A (p.Ser1514Arg) c.4428C>A (p.Ser1476Arg) c.4407C>A (p.Ser1469Arg) c.4272C>A (p.Ser1424Arg) c.4212C>A (p.Ser1404Arg) c.4146C>A (p.Ser1382Arg) c.4143C>A (p.Ser1381Arg) c.4134C>A (p.Ser1378Arg) c.4077C>A (p.Ser1359Arg) c.3960C>A (p.Ser1320Arg) | dbSNP |
3 | g.77644843C= | CA1376777972 | ROBO2 | c.4269C= (p.Ser1423=) c.4260C= (p.Ser1420=) c.4155C= (p.Ser1385=) c.4347C= (p.Ser1449=) c.*1017C= (n.*1017C=) c.4359C= (p.Ser1453=) c.4533C= (p.Ser1511=) c.*2507C= (n.*2507C=) c.4200C= (p.Ser1400=) c.615C= (p.Ser205=) c.4257C= (p.Ser1419=) c.4074C= (p.Ser1358=) n.6062C= c.*2518C= (n.*2518C=) c.568C= c.4122C= (p.Ser1374=) c.532C= c.3690C= (p.Ser1230=) c.4086C= (p.Ser1362=) c.2295C= (p.Ser765=) c.4737C= (p.Ser1579=) c.4611C= (p.Ser1537=) c.4554C= (p.Ser1518=) c.4281C= (p.Ser1427=) c.4668C= (p.Ser1556=) c.4602C= (p.Ser1534=) c.4542C= (p.Ser1514=) c.4428C= (p.Ser1476=) c.4407C= (p.Ser1469=) c.4272C= (p.Ser1424=) c.4212C= (p.Ser1404=) c.4146C= (p.Ser1382=) c.4143C= (p.Ser1381=) c.4134C= (p.Ser1378=) c.4077C= (p.Ser1359=) c.3960C= (p.Ser1320=) | |
3 | g.77644843C>G | CA353533722 | ROBO2 | c.4269C>G (p.Ser1423Arg) c.4260C>G (p.Ser1420Arg) c.4155C>G (p.Ser1385Arg) c.4347C>G (p.Ser1449Arg) c.*1017C>G (n.*1017C>G) c.4359C>G (p.Ser1453Arg) c.4533C>G (p.Ser1511Arg) c.*2507C>G (n.*2507C>G) c.4200C>G (p.Ser1400Arg) c.615C>G (p.Ser205Arg) c.4257C>G (p.Ser1419Arg) c.4074C>G (p.Ser1358Arg) n.6062C>G c.*2518C>G (n.*2518C>G) c.568C>G c.4122C>G (p.Ser1374Arg) c.532C>G c.3690C>G (p.Ser1230Arg) c.4086C>G (p.Ser1362Arg) c.2295C>G (p.Ser765Arg) c.4737C>G (p.Ser1579Arg) c.4611C>G (p.Ser1537Arg) c.4554C>G (p.Ser1518Arg) c.4281C>G (p.Ser1427Arg) c.4668C>G (p.Ser1556Arg) c.4602C>G (p.Ser1534Arg) c.4542C>G (p.Ser1514Arg) c.4428C>G (p.Ser1476Arg) c.4407C>G (p.Ser1469Arg) c.4272C>G (p.Ser1424Arg) c.4212C>G (p.Ser1404Arg) c.4146C>G (p.Ser1382Arg) c.4143C>G (p.Ser1381Arg) c.4134C>G (p.Ser1378Arg) c.4077C>G (p.Ser1359Arg) c.3960C>G (p.Ser1320Arg) | |
3 | g.77644843C>T | CA2497839 | ROBO2 | c.4269C>T (p.Ser1423=) c.4260C>T (p.Ser1420=) c.4155C>T (p.Ser1385=) c.4347C>T (p.Ser1449=) c.*1017C>T (n.*1017C>T) c.4359C>T (p.Ser1453=) c.4533C>T (p.Ser1511=) c.*2507C>T (n.*2507C>T) c.4200C>T (p.Ser1400=) c.615C>T (p.Ser205=) c.4257C>T (p.Ser1419=) c.4074C>T (p.Ser1358=) n.6062C>T c.*2518C>T (n.*2518C>T) c.568C>T c.4122C>T (p.Ser1374=) c.532C>T c.3690C>T (p.Ser1230=) c.4086C>T (p.Ser1362=) c.2295C>T (p.Ser765=) c.4737C>T (p.Ser1579=) c.4611C>T (p.Ser1537=) c.4554C>T (p.Ser1518=) c.4281C>T (p.Ser1427=) c.4668C>T (p.Ser1556=) c.4602C>T (p.Ser1534=) c.4542C>T (p.Ser1514=) c.4428C>T (p.Ser1476=) c.4407C>T (p.Ser1469=) c.4272C>T (p.Ser1424=) c.4212C>T (p.Ser1404=) c.4146C>T (p.Ser1382=) c.4143C>T (p.Ser1381=) c.4134C>T (p.Ser1378=) c.4077C>T (p.Ser1359=) c.3960C>T (p.Ser1320=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644844G>A | CA2497840 | ROBO2 | c.4270G>A (p.Asp1424Asn) c.4261G>A (p.Asp1421Asn) c.4156G>A (p.Asp1386Asn) c.4348G>A (p.Asp1450Asn) c.*1018G>A (n.*1018G>A) c.4360G>A (p.Asp1454Asn) c.4534G>A (p.Asp1512Asn) c.*2508G>A (n.*2508G>A) c.4201G>A (p.Asp1401Asn) c.616G>A (p.Asp206Asn) c.4258G>A (p.Asp1420Asn) c.4075G>A (p.Asp1359Asn) n.6063G>A c.*2519G>A (n.*2519G>A) c.569G>A c.4123G>A (p.Asp1375Asn) c.533G>A c.3691G>A (p.Asp1231Asn) c.4087G>A (p.Asp1363Asn) c.2296G>A (p.Asp766Asn) c.4738G>A (p.Asp1580Asn) c.4612G>A (p.Asp1538Asn) c.4555G>A (p.Asp1519Asn) c.4282G>A (p.Asp1428Asn) c.4669G>A (p.Asp1557Asn) c.4603G>A (p.Asp1535Asn) c.4543G>A (p.Asp1515Asn) c.4429G>A (p.Asp1477Asn) c.4408G>A (p.Asp1470Asn) c.4273G>A (p.Asp1425Asn) c.4213G>A (p.Asp1405Asn) c.4147G>A (p.Asp1383Asn) c.4144G>A (p.Asp1382Asn) c.4135G>A (p.Asp1379Asn) c.4078G>A (p.Asp1360Asn) c.3961G>A (p.Asp1321Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77644844G>C | CA353533728 | ROBO2 | c.4270G>C (p.Asp1424His) c.4261G>C (p.Asp1421His) c.4156G>C (p.Asp1386His) c.4348G>C (p.Asp1450His) c.*1018G>C (n.*1018G>C) c.4360G>C (p.Asp1454His) c.4534G>C (p.Asp1512His) c.*2508G>C (n.*2508G>C) c.4201G>C (p.Asp1401His) c.616G>C (p.Asp206His) c.4258G>C (p.Asp1420His) c.4075G>C (p.Asp1359His) n.6063G>C c.*2519G>C (n.*2519G>C) c.569G>C c.4123G>C (p.Asp1375His) c.533G>C c.3691G>C (p.Asp1231His) c.4087G>C (p.Asp1363His) c.2296G>C (p.Asp766His) c.4738G>C (p.Asp1580His) c.4612G>C (p.Asp1538His) c.4555G>C (p.Asp1519His) c.4282G>C (p.Asp1428His) c.4669G>C (p.Asp1557His) c.4603G>C (p.Asp1535His) c.4543G>C (p.Asp1515His) c.4429G>C (p.Asp1477His) c.4408G>C (p.Asp1470His) c.4273G>C (p.Asp1425His) c.4213G>C (p.Asp1405His) c.4147G>C (p.Asp1383His) c.4144G>C (p.Asp1382His) c.4135G>C (p.Asp1379His) c.4078G>C (p.Asp1360His) c.3961G>C (p.Asp1321His) | |
3 | g.77644844G= | CA1376777973 | ROBO2 | c.4270G= (p.Asp1424=) c.4261G= (p.Asp1421=) c.4156G= (p.Asp1386=) c.4348G= (p.Asp1450=) c.*1018G= (n.*1018G=) c.4360G= (p.Asp1454=) c.4534G= (p.Asp1512=) c.*2508G= (n.*2508G=) c.4201G= (p.Asp1401=) c.616G= (p.Asp206=) c.4258G= (p.Asp1420=) c.4075G= (p.Asp1359=) n.6063G= c.*2519G= (n.*2519G=) c.569G= c.4123G= (p.Asp1375=) c.533G= c.3691G= (p.Asp1231=) c.4087G= (p.Asp1363=) c.2296G= (p.Asp766=) c.4738G= (p.Asp1580=) c.4612G= (p.Asp1538=) c.4555G= (p.Asp1519=) c.4282G= (p.Asp1428=) c.4669G= (p.Asp1557=) c.4603G= (p.Asp1535=) c.4543G= (p.Asp1515=) c.4429G= (p.Asp1477=) c.4408G= (p.Asp1470=) c.4273G= (p.Asp1425=) c.4213G= (p.Asp1405=) c.4147G= (p.Asp1383=) c.4144G= (p.Asp1382=) c.4135G= (p.Asp1379=) c.4078G= (p.Asp1360=) c.3961G= (p.Asp1321=) | |
3 | g.77644844G>T | CA353533726 | ROBO2 | c.4270G>T (p.Asp1424Tyr) c.4261G>T (p.Asp1421Tyr) c.4156G>T (p.Asp1386Tyr) c.4348G>T (p.Asp1450Tyr) c.*1018G>T (n.*1018G>T) c.4360G>T (p.Asp1454Tyr) c.4534G>T (p.Asp1512Tyr) c.*2508G>T (n.*2508G>T) c.4201G>T (p.Asp1401Tyr) c.616G>T (p.Asp206Tyr) c.4258G>T (p.Asp1420Tyr) c.4075G>T (p.Asp1359Tyr) n.6063G>T c.*2519G>T (n.*2519G>T) c.569G>T c.4123G>T (p.Asp1375Tyr) c.533G>T c.3691G>T (p.Asp1231Tyr) c.4087G>T (p.Asp1363Tyr) c.2296G>T (p.Asp766Tyr) c.4738G>T (p.Asp1580Tyr) c.4612G>T (p.Asp1538Tyr) c.4555G>T (p.Asp1519Tyr) c.4282G>T (p.Asp1428Tyr) c.4669G>T (p.Asp1557Tyr) c.4603G>T (p.Asp1535Tyr) c.4543G>T (p.Asp1515Tyr) c.4429G>T (p.Asp1477Tyr) c.4408G>T (p.Asp1470Tyr) c.4273G>T (p.Asp1425Tyr) c.4213G>T (p.Asp1405Tyr) c.4147G>T (p.Asp1383Tyr) c.4144G>T (p.Asp1382Tyr) c.4135G>T (p.Asp1379Tyr) c.4078G>T (p.Asp1360Tyr) c.3961G>T (p.Asp1321Tyr) | |
3 | g.77644845A>C | CA353533730 | ROBO2 | c.4271A>C (p.Asp1424Ala) c.4262A>C (p.Asp1421Ala) c.4157A>C (p.Asp1386Ala) c.4349A>C (p.Asp1450Ala) c.*1019A>C (n.*1019A>C) c.4361A>C (p.Asp1454Ala) c.4535A>C (p.Asp1512Ala) c.*2509A>C (n.*2509A>C) c.4202A>C (p.Asp1401Ala) c.617A>C (p.Asp206Ala) c.4259A>C (p.Asp1420Ala) c.4076A>C (p.Asp1359Ala) n.6064A>C c.*2520A>C (n.*2520A>C) c.570A>C c.4124A>C (p.Asp1375Ala) c.534A>C c.3692A>C (p.Asp1231Ala) c.4088A>C (p.Asp1363Ala) c.2297A>C (p.Asp766Ala) c.4739A>C (p.Asp1580Ala) c.4613A>C (p.Asp1538Ala) c.4556A>C (p.Asp1519Ala) c.4283A>C (p.Asp1428Ala) c.4670A>C (p.Asp1557Ala) c.4604A>C (p.Asp1535Ala) c.4544A>C (p.Asp1515Ala) c.4430A>C (p.Asp1477Ala) c.4409A>C (p.Asp1470Ala) c.4274A>C (p.Asp1425Ala) c.4214A>C (p.Asp1405Ala) c.4148A>C (p.Asp1383Ala) c.4145A>C (p.Asp1382Ala) c.4136A>C (p.Asp1379Ala) c.4079A>C (p.Asp1360Ala) c.3962A>C (p.Asp1321Ala) | |
3 | g.77644845A>G | CA353533732 | ROBO2 | c.4271A>G (p.Asp1424Gly) c.4262A>G (p.Asp1421Gly) c.4157A>G (p.Asp1386Gly) c.4349A>G (p.Asp1450Gly) c.*1019A>G (n.*1019A>G) c.4361A>G (p.Asp1454Gly) c.4535A>G (p.Asp1512Gly) c.*2509A>G (n.*2509A>G) c.4202A>G (p.Asp1401Gly) c.617A>G (p.Asp206Gly) c.4259A>G (p.Asp1420Gly) c.4076A>G (p.Asp1359Gly) n.6064A>G c.*2520A>G (n.*2520A>G) c.570A>G c.4124A>G (p.Asp1375Gly) c.534A>G c.3692A>G (p.Asp1231Gly) c.4088A>G (p.Asp1363Gly) c.2297A>G (p.Asp766Gly) c.4739A>G (p.Asp1580Gly) c.4613A>G (p.Asp1538Gly) c.4556A>G (p.Asp1519Gly) c.4283A>G (p.Asp1428Gly) c.4670A>G (p.Asp1557Gly) c.4604A>G (p.Asp1535Gly) c.4544A>G (p.Asp1515Gly) c.4430A>G (p.Asp1477Gly) c.4409A>G (p.Asp1470Gly) c.4274A>G (p.Asp1425Gly) c.4214A>G (p.Asp1405Gly) c.4148A>G (p.Asp1383Gly) c.4145A>G (p.Asp1382Gly) c.4136A>G (p.Asp1379Gly) c.4079A>G (p.Asp1360Gly) c.3962A>G (p.Asp1321Gly) | |
3 | g.77644845A>T | CA353533734 | ROBO2 | c.4271A>T (p.Asp1424Val) c.4262A>T (p.Asp1421Val) c.4157A>T (p.Asp1386Val) c.4349A>T (p.Asp1450Val) c.*1019A>T (n.*1019A>T) c.4361A>T (p.Asp1454Val) c.4535A>T (p.Asp1512Val) c.*2509A>T (n.*2509A>T) c.4202A>T (p.Asp1401Val) c.617A>T (p.Asp206Val) c.4259A>T (p.Asp1420Val) c.4076A>T (p.Asp1359Val) n.6064A>T c.*2520A>T (n.*2520A>T) c.570A>T c.4124A>T (p.Asp1375Val) c.534A>T c.3692A>T (p.Asp1231Val) c.4088A>T (p.Asp1363Val) c.2297A>T (p.Asp766Val) c.4739A>T (p.Asp1580Val) c.4613A>T (p.Asp1538Val) c.4556A>T (p.Asp1519Val) c.4283A>T (p.Asp1428Val) c.4670A>T (p.Asp1557Val) c.4604A>T (p.Asp1535Val) c.4544A>T (p.Asp1515Val) c.4430A>T (p.Asp1477Val) c.4409A>T (p.Asp1470Val) c.4274A>T (p.Asp1425Val) c.4214A>T (p.Asp1405Val) c.4148A>T (p.Asp1383Val) c.4145A>T (p.Asp1382Val) c.4136A>T (p.Asp1379Val) c.4079A>T (p.Asp1360Val) c.3962A>T (p.Asp1321Val) | |
3 | g.77644846C>A | CA353533735 | ROBO2 | c.4272C>A (p.Asp1424Glu) c.4263C>A (p.Asp1421Glu) c.4158C>A (p.Asp1386Glu) c.4350C>A (p.Asp1450Glu) c.*1020C>A (n.*1020C>A) c.4362C>A (p.Asp1454Glu) c.4536C>A (p.Asp1512Glu) c.*2510C>A (n.*2510C>A) c.4203C>A (p.Asp1401Glu) c.618C>A (p.Asp206Glu) c.4260C>A (p.Asp1420Glu) c.4077C>A (p.Asp1359Glu) n.6065C>A c.*2521C>A (n.*2521C>A) c.571C>A c.4125C>A (p.Asp1375Glu) c.535C>A c.3693C>A (p.Asp1231Glu) c.4089C>A (p.Asp1363Glu) c.2298C>A (p.Asp766Glu) c.4740C>A (p.Asp1580Glu) c.4614C>A (p.Asp1538Glu) c.4557C>A (p.Asp1519Glu) c.4284C>A (p.Asp1428Glu) c.4671C>A (p.Asp1557Glu) c.4605C>A (p.Asp1535Glu) c.4545C>A (p.Asp1515Glu) c.4431C>A (p.Asp1477Glu) c.4410C>A (p.Asp1470Glu) c.4275C>A (p.Asp1425Glu) c.4215C>A (p.Asp1405Glu) c.4149C>A (p.Asp1383Glu) c.4146C>A (p.Asp1382Glu) c.4137C>A (p.Asp1379Glu) c.4080C>A (p.Asp1360Glu) c.3963C>A (p.Asp1321Glu) | |
3 | g.77644846C>G | CA353533737 | ROBO2 | c.4272C>G (p.Asp1424Glu) c.4263C>G (p.Asp1421Glu) c.4158C>G (p.Asp1386Glu) c.4350C>G (p.Asp1450Glu) c.*1020C>G (n.*1020C>G) c.4362C>G (p.Asp1454Glu) c.4536C>G (p.Asp1512Glu) c.*2510C>G (n.*2510C>G) c.4203C>G (p.Asp1401Glu) c.618C>G (p.Asp206Glu) c.4260C>G (p.Asp1420Glu) c.4077C>G (p.Asp1359Glu) n.6065C>G c.*2521C>G (n.*2521C>G) c.571C>G c.4125C>G (p.Asp1375Glu) c.535C>G c.3693C>G (p.Asp1231Glu) c.4089C>G (p.Asp1363Glu) c.2298C>G (p.Asp766Glu) c.4740C>G (p.Asp1580Glu) c.4614C>G (p.Asp1538Glu) c.4557C>G (p.Asp1519Glu) c.4284C>G (p.Asp1428Glu) c.4671C>G (p.Asp1557Glu) c.4605C>G (p.Asp1535Glu) c.4545C>G (p.Asp1515Glu) c.4431C>G (p.Asp1477Glu) c.4410C>G (p.Asp1470Glu) c.4275C>G (p.Asp1425Glu) c.4215C>G (p.Asp1405Glu) c.4149C>G (p.Asp1383Glu) c.4146C>G (p.Asp1382Glu) c.4137C>G (p.Asp1379Glu) c.4080C>G (p.Asp1360Glu) c.3963C>G (p.Asp1321Glu) | |
3 | g.77644846C>T | CA434435333 | ROBO2 | c.4272C>T (p.Asp1424=) c.4263C>T (p.Asp1421=) c.4158C>T (p.Asp1386=) c.4350C>T (p.Asp1450=) c.*1020C>T (n.*1020C>T) c.4362C>T (p.Asp1454=) c.4536C>T (p.Asp1512=) c.*2510C>T (n.*2510C>T) c.4203C>T (p.Asp1401=) c.618C>T (p.Asp206=) c.4260C>T (p.Asp1420=) c.4077C>T (p.Asp1359=) n.6065C>T c.*2521C>T (n.*2521C>T) c.571C>T c.4125C>T (p.Asp1375=) c.535C>T c.3693C>T (p.Asp1231=) c.4089C>T (p.Asp1363=) c.2298C>T (p.Asp766=) c.4740C>T (p.Asp1580=) c.4614C>T (p.Asp1538=) c.4557C>T (p.Asp1519=) c.4284C>T (p.Asp1428=) c.4671C>T (p.Asp1557=) c.4605C>T (p.Asp1535=) c.4545C>T (p.Asp1515=) c.4431C>T (p.Asp1477=) c.4410C>T (p.Asp1470=) c.4275C>T (p.Asp1425=) c.4215C>T (p.Asp1405=) c.4149C>T (p.Asp1383=) c.4146C>T (p.Asp1382=) c.4137C>T (p.Asp1379=) c.4080C>T (p.Asp1360=) c.3963C>T (p.Asp1321=) | |
3 | g.77644847C>A | CA2497841 | ROBO2 | c.4273C>A (p.Leu1425Ile) c.4264C>A (p.Leu1422Ile) c.4159C>A (p.Leu1387Ile) c.4351C>A (p.Leu1451Ile) c.*1021C>A (n.*1021C>A) c.4363C>A (p.Leu1455Ile) c.4537C>A (p.Leu1513Ile) c.*2511C>A (n.*2511C>A) c.4204C>A (p.Leu1402Ile) c.619C>A (p.Leu207Ile) c.4261C>A (p.Leu1421Ile) c.4078C>A (p.Leu1360Ile) n.6066C>A c.*2522C>A (n.*2522C>A) c.572C>A c.4126C>A (p.Leu1376Ile) c.536C>A c.3694C>A (p.Leu1232Ile) c.4090C>A (p.Leu1364Ile) c.2299C>A (p.Leu767Ile) c.4741C>A (p.Leu1581Ile) c.4615C>A (p.Leu1539Ile) c.4558C>A (p.Leu1520Ile) c.4285C>A (p.Leu1429Ile) c.4672C>A (p.Leu1558Ile) c.4606C>A (p.Leu1536Ile) c.4546C>A (p.Leu1516Ile) c.4432C>A (p.Leu1478Ile) c.4411C>A (p.Leu1471Ile) c.4276C>A (p.Leu1426Ile) c.4216C>A (p.Leu1406Ile) c.4150C>A (p.Leu1384Ile) c.4147C>A (p.Leu1383Ile) c.4138C>A (p.Leu1380Ile) c.4081C>A (p.Leu1361Ile) c.3964C>A (p.Leu1322Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644847C= | CA1376777974 | ROBO2 | c.4273C= (p.Leu1425=) c.4264C= (p.Leu1422=) c.4159C= (p.Leu1387=) c.4351C= (p.Leu1451=) c.*1021C= (n.*1021C=) c.4363C= (p.Leu1455=) c.4537C= (p.Leu1513=) c.*2511C= (n.*2511C=) c.4204C= (p.Leu1402=) c.619C= (p.Leu207=) c.4261C= (p.Leu1421=) c.4078C= (p.Leu1360=) n.6066C= c.*2522C= (n.*2522C=) c.572C= c.4126C= (p.Leu1376=) c.536C= c.3694C= (p.Leu1232=) c.4090C= (p.Leu1364=) c.2299C= (p.Leu767=) c.4741C= (p.Leu1581=) c.4615C= (p.Leu1539=) c.4558C= (p.Leu1520=) c.4285C= (p.Leu1429=) c.4672C= (p.Leu1558=) c.4606C= (p.Leu1536=) c.4546C= (p.Leu1516=) c.4432C= (p.Leu1478=) c.4411C= (p.Leu1471=) c.4276C= (p.Leu1426=) c.4216C= (p.Leu1406=) c.4150C= (p.Leu1384=) c.4147C= (p.Leu1383=) c.4138C= (p.Leu1380=) c.4081C= (p.Leu1361=) c.3964C= (p.Leu1322=) | |
3 | g.77644847C>G | CA353533744 | ROBO2 | c.4273C>G (p.Leu1425Val) c.4264C>G (p.Leu1422Val) c.4159C>G (p.Leu1387Val) c.4351C>G (p.Leu1451Val) c.*1021C>G (n.*1021C>G) c.4363C>G (p.Leu1455Val) c.4537C>G (p.Leu1513Val) c.*2511C>G (n.*2511C>G) c.4204C>G (p.Leu1402Val) c.619C>G (p.Leu207Val) c.4261C>G (p.Leu1421Val) c.4078C>G (p.Leu1360Val) n.6066C>G c.*2522C>G (n.*2522C>G) c.572C>G c.4126C>G (p.Leu1376Val) c.536C>G c.3694C>G (p.Leu1232Val) c.4090C>G (p.Leu1364Val) c.2299C>G (p.Leu767Val) c.4741C>G (p.Leu1581Val) c.4615C>G (p.Leu1539Val) c.4558C>G (p.Leu1520Val) c.4285C>G (p.Leu1429Val) c.4672C>G (p.Leu1558Val) c.4606C>G (p.Leu1536Val) c.4546C>G (p.Leu1516Val) c.4432C>G (p.Leu1478Val) c.4411C>G (p.Leu1471Val) c.4276C>G (p.Leu1426Val) c.4216C>G (p.Leu1406Val) c.4150C>G (p.Leu1384Val) c.4147C>G (p.Leu1383Val) c.4138C>G (p.Leu1380Val) c.4081C>G (p.Leu1361Val) c.3964C>G (p.Leu1322Val) | |
3 | g.77644847C>T | CA2497842 | ROBO2 | c.4273C>T (p.Leu1425Phe) c.4264C>T (p.Leu1422Phe) c.4159C>T (p.Leu1387Phe) c.4351C>T (p.Leu1451Phe) c.*1021C>T (n.*1021C>T) c.4363C>T (p.Leu1455Phe) c.4537C>T (p.Leu1513Phe) c.*2511C>T (n.*2511C>T) c.4204C>T (p.Leu1402Phe) c.619C>T (p.Leu207Phe) c.4261C>T (p.Leu1421Phe) c.4078C>T (p.Leu1360Phe) n.6066C>T c.*2522C>T (n.*2522C>T) c.572C>T c.4126C>T (p.Leu1376Phe) c.536C>T c.3694C>T (p.Leu1232Phe) c.4090C>T (p.Leu1364Phe) c.2299C>T (p.Leu767Phe) c.4741C>T (p.Leu1581Phe) c.4615C>T (p.Leu1539Phe) c.4558C>T (p.Leu1520Phe) c.4285C>T (p.Leu1429Phe) c.4672C>T (p.Leu1558Phe) c.4606C>T (p.Leu1536Phe) c.4546C>T (p.Leu1516Phe) c.4432C>T (p.Leu1478Phe) c.4411C>T (p.Leu1471Phe) c.4276C>T (p.Leu1426Phe) c.4216C>T (p.Leu1406Phe) c.4150C>T (p.Leu1384Phe) c.4147C>T (p.Leu1383Phe) c.4138C>T (p.Leu1380Phe) c.4081C>T (p.Leu1361Phe) c.3964C>T (p.Leu1322Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77644848T>A | CA353533747 | ROBO2 | c.4274T>A (p.Leu1425His) c.4265T>A (p.Leu1422His) c.4160T>A (p.Leu1387His) c.4352T>A (p.Leu1451His) c.*1022T>A (n.*1022T>A) c.4364T>A (p.Leu1455His) c.4538T>A (p.Leu1513His) c.*2512T>A (n.*2512T>A) c.4205T>A (p.Leu1402His) c.620T>A (p.Leu207His) c.4262T>A (p.Leu1421His) c.4079T>A (p.Leu1360His) n.6067T>A c.*2523T>A (n.*2523T>A) c.573T>A c.4127T>A (p.Leu1376His) c.537T>A c.3695T>A (p.Leu1232His) c.4091T>A (p.Leu1364His) c.2300T>A (p.Leu767His) c.4742T>A (p.Leu1581His) c.4616T>A (p.Leu1539His) c.4559T>A (p.Leu1520His) c.4286T>A (p.Leu1429His) c.4673T>A (p.Leu1558His) c.4607T>A (p.Leu1536His) c.4547T>A (p.Leu1516His) c.4433T>A (p.Leu1478His) c.4412T>A (p.Leu1471His) c.4277T>A (p.Leu1426His) c.4217T>A (p.Leu1406His) c.4151T>A (p.Leu1384His) c.4148T>A (p.Leu1383His) c.4139T>A (p.Leu1380His) c.4082T>A (p.Leu1361His) c.3965T>A (p.Leu1322His) | gnomAD v4 |
3 | g.77644848T>C | CA353533749 | ROBO2 | c.4274T>C (p.Leu1425Pro) c.4265T>C (p.Leu1422Pro) c.4160T>C (p.Leu1387Pro) c.4352T>C (p.Leu1451Pro) c.*1022T>C (n.*1022T>C) c.4364T>C (p.Leu1455Pro) c.4538T>C (p.Leu1513Pro) c.*2512T>C (n.*2512T>C) c.4205T>C (p.Leu1402Pro) c.620T>C (p.Leu207Pro) c.4262T>C (p.Leu1421Pro) c.4079T>C (p.Leu1360Pro) n.6067T>C c.*2523T>C (n.*2523T>C) c.573T>C c.4127T>C (p.Leu1376Pro) c.537T>C c.3695T>C (p.Leu1232Pro) c.4091T>C (p.Leu1364Pro) c.2300T>C (p.Leu767Pro) c.4742T>C (p.Leu1581Pro) c.4616T>C (p.Leu1539Pro) c.4559T>C (p.Leu1520Pro) c.4286T>C (p.Leu1429Pro) c.4673T>C (p.Leu1558Pro) c.4607T>C (p.Leu1536Pro) c.4547T>C (p.Leu1516Pro) c.4433T>C (p.Leu1478Pro) c.4412T>C (p.Leu1471Pro) c.4277T>C (p.Leu1426Pro) c.4217T>C (p.Leu1406Pro) c.4151T>C (p.Leu1384Pro) c.4148T>C (p.Leu1383Pro) c.4139T>C (p.Leu1380Pro) c.4082T>C (p.Leu1361Pro) c.3965T>C (p.Leu1322Pro) | |
3 | g.77644848T>G | CA353533751 | ROBO2 | c.4274T>G (p.Leu1425Arg) c.4265T>G (p.Leu1422Arg) c.4160T>G (p.Leu1387Arg) c.4352T>G (p.Leu1451Arg) c.*1022T>G (n.*1022T>G) c.4364T>G (p.Leu1455Arg) c.4538T>G (p.Leu1513Arg) c.*2512T>G (n.*2512T>G) c.4205T>G (p.Leu1402Arg) c.620T>G (p.Leu207Arg) c.4262T>G (p.Leu1421Arg) c.4079T>G (p.Leu1360Arg) n.6067T>G c.*2523T>G (n.*2523T>G) c.573T>G c.4127T>G (p.Leu1376Arg) c.537T>G c.3695T>G (p.Leu1232Arg) c.4091T>G (p.Leu1364Arg) c.2300T>G (p.Leu767Arg) c.4742T>G (p.Leu1581Arg) c.4616T>G (p.Leu1539Arg) c.4559T>G (p.Leu1520Arg) c.4286T>G (p.Leu1429Arg) c.4673T>G (p.Leu1558Arg) c.4607T>G (p.Leu1536Arg) c.4547T>G (p.Leu1516Arg) c.4433T>G (p.Leu1478Arg) c.4412T>G (p.Leu1471Arg) c.4277T>G (p.Leu1426Arg) c.4217T>G (p.Leu1406Arg) c.4151T>G (p.Leu1384Arg) c.4148T>G (p.Leu1383Arg) c.4139T>G (p.Leu1380Arg) c.4082T>G (p.Leu1361Arg) c.3965T>G (p.Leu1322Arg) | |
3 | g.77644849T>A | CA434435337 | ROBO2 | c.4275T>A (p.Leu1425=) c.4266T>A (p.Leu1422=) c.4161T>A (p.Leu1387=) c.4353T>A (p.Leu1451=) c.*1023T>A (n.*1023T>A) c.4365T>A (p.Leu1455=) c.4539T>A (p.Leu1513=) c.*2513T>A (n.*2513T>A) c.4206T>A (p.Leu1402=) c.621T>A (p.Leu207=) c.4263T>A (p.Leu1421=) c.4080T>A (p.Leu1360=) n.6068T>A c.*2524T>A (n.*2524T>A) c.574T>A c.4128T>A (p.Leu1376=) c.538T>A c.3696T>A (p.Leu1232=) c.4092T>A (p.Leu1364=) c.2301T>A (p.Leu767=) c.4743T>A (p.Leu1581=) c.4617T>A (p.Leu1539=) c.4560T>A (p.Leu1520=) c.4287T>A (p.Leu1429=) c.4674T>A (p.Leu1558=) c.4608T>A (p.Leu1536=) c.4548T>A (p.Leu1516=) c.4434T>A (p.Leu1478=) c.4413T>A (p.Leu1471=) c.4278T>A (p.Leu1426=) c.4218T>A (p.Leu1406=) c.4152T>A (p.Leu1384=) c.4149T>A (p.Leu1383=) c.4140T>A (p.Leu1380=) c.4083T>A (p.Leu1361=) c.3966T>A (p.Leu1322=) | |
3 | g.77644849T>C | CA434435338 | ROBO2 | c.4275T>C (p.Leu1425=) c.4266T>C (p.Leu1422=) c.4161T>C (p.Leu1387=) c.4353T>C (p.Leu1451=) c.*1023T>C (n.*1023T>C) c.4365T>C (p.Leu1455=) c.4539T>C (p.Leu1513=) c.*2513T>C (n.*2513T>C) c.4206T>C (p.Leu1402=) c.621T>C (p.Leu207=) c.4263T>C (p.Leu1421=) c.4080T>C (p.Leu1360=) n.6068T>C c.*2524T>C (n.*2524T>C) c.574T>C c.4128T>C (p.Leu1376=) c.538T>C c.3696T>C (p.Leu1232=) c.4092T>C (p.Leu1364=) c.2301T>C (p.Leu767=) c.4743T>C (p.Leu1581=) c.4617T>C (p.Leu1539=) c.4560T>C (p.Leu1520=) c.4287T>C (p.Leu1429=) c.4674T>C (p.Leu1558=) c.4608T>C (p.Leu1536=) c.4548T>C (p.Leu1516=) c.4434T>C (p.Leu1478=) c.4413T>C (p.Leu1471=) c.4278T>C (p.Leu1426=) c.4218T>C (p.Leu1406=) c.4152T>C (p.Leu1384=) c.4149T>C (p.Leu1383=) c.4140T>C (p.Leu1380=) c.4083T>C (p.Leu1361=) c.3966T>C (p.Leu1322=) | |
3 | g.77644849T>G | CA434435339 | ROBO2 | c.4275T>G (p.Leu1425=) c.4266T>G (p.Leu1422=) c.4161T>G (p.Leu1387=) c.4353T>G (p.Leu1451=) c.*1023T>G (n.*1023T>G) c.4365T>G (p.Leu1455=) c.4539T>G (p.Leu1513=) c.*2513T>G (n.*2513T>G) c.4206T>G (p.Leu1402=) c.621T>G (p.Leu207=) c.4263T>G (p.Leu1421=) c.4080T>G (p.Leu1360=) n.6068T>G c.*2524T>G (n.*2524T>G) c.574T>G c.4128T>G (p.Leu1376=) c.538T>G c.3696T>G (p.Leu1232=) c.4092T>G (p.Leu1364=) c.2301T>G (p.Leu767=) c.4743T>G (p.Leu1581=) c.4617T>G (p.Leu1539=) c.4560T>G (p.Leu1520=) c.4287T>G (p.Leu1429=) c.4674T>G (p.Leu1558=) c.4608T>G (p.Leu1536=) c.4548T>G (p.Leu1516=) c.4434T>G (p.Leu1478=) c.4413T>G (p.Leu1471=) c.4278T>G (p.Leu1426=) c.4218T>G (p.Leu1406=) c.4152T>G (p.Leu1384=) c.4149T>G (p.Leu1383=) c.4140T>G (p.Leu1380=) c.4083T>G (p.Leu1361=) c.3966T>G (p.Leu1322=) | COSMIC COSMIC |
3 | g.77644850C>A | CA353533759 | ROBO2 | c.4276C>A (p.Leu1426Ile) c.4267C>A (p.Leu1423Ile) c.4162C>A (p.Leu1388Ile) c.4354C>A (p.Leu1452Ile) c.*1024C>A (n.*1024C>A) c.4366C>A (p.Leu1456Ile) c.4540C>A (p.Leu1514Ile) c.*2514C>A (n.*2514C>A) c.4207C>A (p.Leu1403Ile) c.622C>A (p.Leu208Ile) c.4264C>A (p.Leu1422Ile) c.4081C>A (p.Leu1361Ile) n.6069C>A c.*2525C>A (n.*2525C>A) c.575C>A c.4129C>A (p.Leu1377Ile) c.539C>A c.3697C>A (p.Leu1233Ile) c.4093C>A (p.Leu1365Ile) c.2302C>A (p.Leu768Ile) c.4744C>A (p.Leu1582Ile) c.4618C>A (p.Leu1540Ile) c.4561C>A (p.Leu1521Ile) c.4288C>A (p.Leu1430Ile) c.4675C>A (p.Leu1559Ile) c.4609C>A (p.Leu1537Ile) c.4549C>A (p.Leu1517Ile) c.4435C>A (p.Leu1479Ile) c.4414C>A (p.Leu1472Ile) c.4279C>A (p.Leu1427Ile) c.4219C>A (p.Leu1407Ile) c.4153C>A (p.Leu1385Ile) c.4150C>A (p.Leu1384Ile) c.4141C>A (p.Leu1381Ile) c.4084C>A (p.Leu1362Ile) c.3967C>A (p.Leu1323Ile) | |
3 | g.77644850C= | CA1376777975 | ROBO2 | c.4276C= (p.Leu1426=) c.4267C= (p.Leu1423=) c.4162C= (p.Leu1388=) c.4354C= (p.Leu1452=) c.*1024C= (n.*1024C=) c.4366C= (p.Leu1456=) c.4540C= (p.Leu1514=) c.*2514C= (n.*2514C=) c.4207C= (p.Leu1403=) c.622C= (p.Leu208=) c.4264C= (p.Leu1422=) c.4081C= (p.Leu1361=) n.6069C= c.*2525C= (n.*2525C=) c.575C= c.4129C= (p.Leu1377=) c.539C= c.3697C= (p.Leu1233=) c.4093C= (p.Leu1365=) c.2302C= (p.Leu768=) c.4744C= (p.Leu1582=) c.4618C= (p.Leu1540=) c.4561C= (p.Leu1521=) c.4288C= (p.Leu1430=) c.4675C= (p.Leu1559=) c.4609C= (p.Leu1537=) c.4549C= (p.Leu1517=) c.4435C= (p.Leu1479=) c.4414C= (p.Leu1472=) c.4279C= (p.Leu1427=) c.4219C= (p.Leu1407=) c.4153C= (p.Leu1385=) c.4150C= (p.Leu1384=) c.4141C= (p.Leu1381=) c.4084C= (p.Leu1362=) c.3967C= (p.Leu1323=) | |
3 | g.77644850C>G | CA353533758 | ROBO2 | c.4276C>G (p.Leu1426Val) c.4267C>G (p.Leu1423Val) c.4162C>G (p.Leu1388Val) c.4354C>G (p.Leu1452Val) c.*1024C>G (n.*1024C>G) c.4366C>G (p.Leu1456Val) c.4540C>G (p.Leu1514Val) c.*2514C>G (n.*2514C>G) c.4207C>G (p.Leu1403Val) c.622C>G (p.Leu208Val) c.4264C>G (p.Leu1422Val) c.4081C>G (p.Leu1361Val) n.6069C>G c.*2525C>G (n.*2525C>G) c.575C>G c.4129C>G (p.Leu1377Val) c.539C>G c.3697C>G (p.Leu1233Val) c.4093C>G (p.Leu1365Val) c.2302C>G (p.Leu768Val) c.4744C>G (p.Leu1582Val) c.4618C>G (p.Leu1540Val) c.4561C>G (p.Leu1521Val) c.4288C>G (p.Leu1430Val) c.4675C>G (p.Leu1559Val) c.4609C>G (p.Leu1537Val) c.4549C>G (p.Leu1517Val) c.4435C>G (p.Leu1479Val) c.4414C>G (p.Leu1472Val) c.4279C>G (p.Leu1427Val) c.4219C>G (p.Leu1407Val) c.4153C>G (p.Leu1385Val) c.4150C>G (p.Leu1384Val) c.4141C>G (p.Leu1381Val) c.4084C>G (p.Leu1362Val) c.3967C>G (p.Leu1323Val) | dbSNP |
3 | g.77644850C>T | CA353533756 | ROBO2 | c.4276C>T (p.Leu1426Phe) c.4267C>T (p.Leu1423Phe) c.4162C>T (p.Leu1388Phe) c.4354C>T (p.Leu1452Phe) c.*1024C>T (n.*1024C>T) c.4366C>T (p.Leu1456Phe) c.4540C>T (p.Leu1514Phe) c.*2514C>T (n.*2514C>T) c.4207C>T (p.Leu1403Phe) c.622C>T (p.Leu208Phe) c.4264C>T (p.Leu1422Phe) c.4081C>T (p.Leu1361Phe) n.6069C>T c.*2525C>T (n.*2525C>T) c.575C>T c.4129C>T (p.Leu1377Phe) c.539C>T c.3697C>T (p.Leu1233Phe) c.4093C>T (p.Leu1365Phe) c.2302C>T (p.Leu768Phe) c.4744C>T (p.Leu1582Phe) c.4618C>T (p.Leu1540Phe) c.4561C>T (p.Leu1521Phe) c.4288C>T (p.Leu1430Phe) c.4675C>T (p.Leu1559Phe) c.4609C>T (p.Leu1537Phe) c.4549C>T (p.Leu1517Phe) c.4435C>T (p.Leu1479Phe) c.4414C>T (p.Leu1472Phe) c.4279C>T (p.Leu1427Phe) c.4219C>T (p.Leu1407Phe) c.4153C>T (p.Leu1385Phe) c.4150C>T (p.Leu1384Phe) c.4141C>T (p.Leu1381Phe) c.4084C>T (p.Leu1362Phe) c.3967C>T (p.Leu1323Phe) | |
3 | g.77644851T>A | CA353533760 | ROBO2 | c.4277T>A (p.Leu1426His) c.4268T>A (p.Leu1423His) c.4163T>A (p.Leu1388His) c.4355T>A (p.Leu1452His) c.*1025T>A (n.*1025T>A) c.4367T>A (p.Leu1456His) c.4541T>A (p.Leu1514His) c.*2515T>A (n.*2515T>A) c.4208T>A (p.Leu1403His) c.623T>A (p.Leu208His) c.4265T>A (p.Leu1422His) c.4082T>A (p.Leu1361His) n.6070T>A c.*2526T>A (n.*2526T>A) c.576T>A c.4130T>A (p.Leu1377His) c.540T>A c.3698T>A (p.Leu1233His) c.4094T>A (p.Leu1365His) c.2303T>A (p.Leu768His) c.4745T>A (p.Leu1582His) c.4619T>A (p.Leu1540His) c.4562T>A (p.Leu1521His) c.4289T>A (p.Leu1430His) c.4676T>A (p.Leu1559His) c.4610T>A (p.Leu1537His) c.4550T>A (p.Leu1517His) c.4436T>A (p.Leu1479His) c.4415T>A (p.Leu1472His) c.4280T>A (p.Leu1427His) c.4220T>A (p.Leu1407His) c.4154T>A (p.Leu1385His) c.4151T>A (p.Leu1384His) c.4142T>A (p.Leu1381His) c.4085T>A (p.Leu1362His) c.3968T>A (p.Leu1323His) | |
3 | g.77644851T>C | CA353533761 | ROBO2 | c.4277T>C (p.Leu1426Pro) c.4268T>C (p.Leu1423Pro) c.4163T>C (p.Leu1388Pro) c.4355T>C (p.Leu1452Pro) c.*1025T>C (n.*1025T>C) c.4367T>C (p.Leu1456Pro) c.4541T>C (p.Leu1514Pro) c.*2515T>C (n.*2515T>C) c.4208T>C (p.Leu1403Pro) c.623T>C (p.Leu208Pro) c.4265T>C (p.Leu1422Pro) c.4082T>C (p.Leu1361Pro) n.6070T>C c.*2526T>C (n.*2526T>C) c.576T>C c.4130T>C (p.Leu1377Pro) c.540T>C c.3698T>C (p.Leu1233Pro) c.4094T>C (p.Leu1365Pro) c.2303T>C (p.Leu768Pro) c.4745T>C (p.Leu1582Pro) c.4619T>C (p.Leu1540Pro) c.4562T>C (p.Leu1521Pro) c.4289T>C (p.Leu1430Pro) c.4676T>C (p.Leu1559Pro) c.4610T>C (p.Leu1537Pro) c.4550T>C (p.Leu1517Pro) c.4436T>C (p.Leu1479Pro) c.4415T>C (p.Leu1472Pro) c.4280T>C (p.Leu1427Pro) c.4220T>C (p.Leu1407Pro) c.4154T>C (p.Leu1385Pro) c.4151T>C (p.Leu1384Pro) c.4142T>C (p.Leu1381Pro) c.4085T>C (p.Leu1362Pro) c.3968T>C (p.Leu1323Pro) | |
3 | g.77644851T>G | CA353533762 | ROBO2 | c.4277T>G (p.Leu1426Arg) c.4268T>G (p.Leu1423Arg) c.4163T>G (p.Leu1388Arg) c.4355T>G (p.Leu1452Arg) c.*1025T>G (n.*1025T>G) c.4367T>G (p.Leu1456Arg) c.4541T>G (p.Leu1514Arg) c.*2515T>G (n.*2515T>G) c.4208T>G (p.Leu1403Arg) c.623T>G (p.Leu208Arg) c.4265T>G (p.Leu1422Arg) c.4082T>G (p.Leu1361Arg) n.6070T>G c.*2526T>G (n.*2526T>G) c.576T>G c.4130T>G (p.Leu1377Arg) c.540T>G c.3698T>G (p.Leu1233Arg) c.4094T>G (p.Leu1365Arg) c.2303T>G (p.Leu768Arg) c.4745T>G (p.Leu1582Arg) c.4619T>G (p.Leu1540Arg) c.4562T>G (p.Leu1521Arg) c.4289T>G (p.Leu1430Arg) c.4676T>G (p.Leu1559Arg) c.4610T>G (p.Leu1537Arg) c.4550T>G (p.Leu1517Arg) c.4436T>G (p.Leu1479Arg) c.4415T>G (p.Leu1472Arg) c.4280T>G (p.Leu1427Arg) c.4220T>G (p.Leu1407Arg) c.4154T>G (p.Leu1385Arg) c.4151T>G (p.Leu1384Arg) c.4142T>G (p.Leu1381Arg) c.4085T>G (p.Leu1362Arg) c.3968T>G (p.Leu1323Arg) | |
3 | g.77644852T>A | CA434435344 | ROBO2 | c.4278T>A (p.Leu1426=) c.4269T>A (p.Leu1423=) c.4164T>A (p.Leu1388=) c.4356T>A (p.Leu1452=) c.*1026T>A (n.*1026T>A) c.4368T>A (p.Leu1456=) c.4542T>A (p.Leu1514=) c.*2516T>A (n.*2516T>A) c.4209T>A (p.Leu1403=) c.624T>A (p.Leu208=) c.4266T>A (p.Leu1422=) c.4083T>A (p.Leu1361=) n.6071T>A c.*2527T>A (n.*2527T>A) c.577T>A c.4131T>A (p.Leu1377=) c.541T>A c.3699T>A (p.Leu1233=) c.4095T>A (p.Leu1365=) c.2304T>A (p.Leu768=) c.4746T>A (p.Leu1582=) c.4620T>A (p.Leu1540=) c.4563T>A (p.Leu1521=) c.4290T>A (p.Leu1430=) c.4677T>A (p.Leu1559=) c.4611T>A (p.Leu1537=) c.4551T>A (p.Leu1517=) c.4437T>A (p.Leu1479=) c.4416T>A (p.Leu1472=) c.4281T>A (p.Leu1427=) c.4221T>A (p.Leu1407=) c.4155T>A (p.Leu1385=) c.4152T>A (p.Leu1384=) c.4143T>A (p.Leu1381=) c.4086T>A (p.Leu1362=) c.3969T>A (p.Leu1323=) | |
3 | g.77644852T>C | CA434435345 | ROBO2 | c.4278T>C (p.Leu1426=) c.4269T>C (p.Leu1423=) c.4164T>C (p.Leu1388=) c.4356T>C (p.Leu1452=) c.*1026T>C (n.*1026T>C) c.4368T>C (p.Leu1456=) c.4542T>C (p.Leu1514=) c.*2516T>C (n.*2516T>C) c.4209T>C (p.Leu1403=) c.624T>C (p.Leu208=) c.4266T>C (p.Leu1422=) c.4083T>C (p.Leu1361=) n.6071T>C c.*2527T>C (n.*2527T>C) c.577T>C c.4131T>C (p.Leu1377=) c.541T>C c.3699T>C (p.Leu1233=) c.4095T>C (p.Leu1365=) c.2304T>C (p.Leu768=) c.4746T>C (p.Leu1582=) c.4620T>C (p.Leu1540=) c.4563T>C (p.Leu1521=) c.4290T>C (p.Leu1430=) c.4677T>C (p.Leu1559=) c.4611T>C (p.Leu1537=) c.4551T>C (p.Leu1517=) c.4437T>C (p.Leu1479=) c.4416T>C (p.Leu1472=) c.4281T>C (p.Leu1427=) c.4221T>C (p.Leu1407=) c.4155T>C (p.Leu1385=) c.4152T>C (p.Leu1384=) c.4143T>C (p.Leu1381=) c.4086T>C (p.Leu1362=) c.3969T>C (p.Leu1323=) | gnomAD v4 |
3 | g.77644852T>G | CA434435346 | ROBO2 | c.4278T>G (p.Leu1426=) c.4269T>G (p.Leu1423=) c.4164T>G (p.Leu1388=) c.4356T>G (p.Leu1452=) c.*1026T>G (n.*1026T>G) c.4368T>G (p.Leu1456=) c.4542T>G (p.Leu1514=) c.*2516T>G (n.*2516T>G) c.4209T>G (p.Leu1403=) c.624T>G (p.Leu208=) c.4266T>G (p.Leu1422=) c.4083T>G (p.Leu1361=) n.6071T>G c.*2527T>G (n.*2527T>G) c.577T>G c.4131T>G (p.Leu1377=) c.541T>G c.3699T>G (p.Leu1233=) c.4095T>G (p.Leu1365=) c.2304T>G (p.Leu768=) c.4746T>G (p.Leu1582=) c.4620T>G (p.Leu1540=) c.4563T>G (p.Leu1521=) c.4290T>G (p.Leu1430=) c.4677T>G (p.Leu1559=) c.4611T>G (p.Leu1537=) c.4551T>G (p.Leu1517=) c.4437T>G (p.Leu1479=) c.4416T>G (p.Leu1472=) c.4281T>G (p.Leu1427=) c.4221T>G (p.Leu1407=) c.4155T>G (p.Leu1385=) c.4152T>G (p.Leu1384=) c.4143T>G (p.Leu1381=) c.4086T>G (p.Leu1362=) c.3969T>G (p.Leu1323=) | |
3 | g.77644853G>A | CA2497843 | ROBO2 | c.4279G>A (p.Asp1427Asn) c.4270G>A (p.Asp1424Asn) c.4165G>A (p.Asp1389Asn) c.4357G>A (p.Asp1453Asn) c.*1027G>A (n.*1027G>A) c.4369G>A (p.Asp1457Asn) c.4543G>A (p.Asp1515Asn) c.*2517G>A (n.*2517G>A) c.4210G>A (p.Asp1404Asn) c.625G>A (p.Asp209Asn) c.4267G>A (p.Asp1423Asn) c.4084G>A (p.Asp1362Asn) n.6072G>A c.*2528G>A (n.*2528G>A) c.578G>A c.4132G>A (p.Asp1378Asn) c.542G>A c.3700G>A (p.Asp1234Asn) c.4096G>A (p.Asp1366Asn) c.2305G>A (p.Asp769Asn) c.4747G>A (p.Asp1583Asn) c.4621G>A (p.Asp1541Asn) c.4564G>A (p.Asp1522Asn) c.4291G>A (p.Asp1431Asn) c.4678G>A (p.Asp1560Asn) c.4612G>A (p.Asp1538Asn) c.4552G>A (p.Asp1518Asn) c.4438G>A (p.Asp1480Asn) c.4417G>A (p.Asp1473Asn) c.4282G>A (p.Asp1428Asn) c.4222G>A (p.Asp1408Asn) c.4156G>A (p.Asp1386Asn) c.4153G>A (p.Asp1385Asn) c.4144G>A (p.Asp1382Asn) c.4087G>A (p.Asp1363Asn) c.3970G>A (p.Asp1324Asn) | dbSNP ExAC gnomAD v4 |
3 | g.77644853G>C | CA353533764 | ROBO2 | c.4279G>C (p.Asp1427His) c.4270G>C (p.Asp1424His) c.4165G>C (p.Asp1389His) c.4357G>C (p.Asp1453His) c.*1027G>C (n.*1027G>C) c.4369G>C (p.Asp1457His) c.4543G>C (p.Asp1515His) c.*2517G>C (n.*2517G>C) c.4210G>C (p.Asp1404His) c.625G>C (p.Asp209His) c.4267G>C (p.Asp1423His) c.4084G>C (p.Asp1362His) n.6072G>C c.*2528G>C (n.*2528G>C) c.578G>C c.4132G>C (p.Asp1378His) c.542G>C c.3700G>C (p.Asp1234His) c.4096G>C (p.Asp1366His) c.2305G>C (p.Asp769His) c.4747G>C (p.Asp1583His) c.4621G>C (p.Asp1541His) c.4564G>C (p.Asp1522His) c.4291G>C (p.Asp1431His) c.4678G>C (p.Asp1560His) c.4612G>C (p.Asp1538His) c.4552G>C (p.Asp1518His) c.4438G>C (p.Asp1480His) c.4417G>C (p.Asp1473His) c.4282G>C (p.Asp1428His) c.4222G>C (p.Asp1408His) c.4156G>C (p.Asp1386His) c.4153G>C (p.Asp1385His) c.4144G>C (p.Asp1382His) c.4087G>C (p.Asp1363His) c.3970G>C (p.Asp1324His) | |
3 | g.77644853G= | CA1376777976 | ROBO2 | c.4279G= (p.Asp1427=) c.4270G= (p.Asp1424=) c.4165G= (p.Asp1389=) c.4357G= (p.Asp1453=) c.*1027G= (n.*1027G=) c.4369G= (p.Asp1457=) c.4543G= (p.Asp1515=) c.*2517G= (n.*2517G=) c.4210G= (p.Asp1404=) c.625G= (p.Asp209=) c.4267G= (p.Asp1423=) c.4084G= (p.Asp1362=) n.6072G= c.*2528G= (n.*2528G=) c.578G= c.4132G= (p.Asp1378=) c.542G= c.3700G= (p.Asp1234=) c.4096G= (p.Asp1366=) c.2305G= (p.Asp769=) c.4747G= (p.Asp1583=) c.4621G= (p.Asp1541=) c.4564G= (p.Asp1522=) c.4291G= (p.Asp1431=) c.4678G= (p.Asp1560=) c.4612G= (p.Asp1538=) c.4552G= (p.Asp1518=) c.4438G= (p.Asp1480=) c.4417G= (p.Asp1473=) c.4282G= (p.Asp1428=) c.4222G= (p.Asp1408=) c.4156G= (p.Asp1386=) c.4153G= (p.Asp1385=) c.4144G= (p.Asp1382=) c.4087G= (p.Asp1363=) c.3970G= (p.Asp1324=) | |
3 | g.77644853G>T | CA353533765 | ROBO2 | c.4279G>T (p.Asp1427Tyr) c.4270G>T (p.Asp1424Tyr) c.4165G>T (p.Asp1389Tyr) c.4357G>T (p.Asp1453Tyr) c.*1027G>T (n.*1027G>T) c.4369G>T (p.Asp1457Tyr) c.4543G>T (p.Asp1515Tyr) c.*2517G>T (n.*2517G>T) c.4210G>T (p.Asp1404Tyr) c.625G>T (p.Asp209Tyr) c.4267G>T (p.Asp1423Tyr) c.4084G>T (p.Asp1362Tyr) n.6072G>T c.*2528G>T (n.*2528G>T) c.578G>T c.4132G>T (p.Asp1378Tyr) c.542G>T c.3700G>T (p.Asp1234Tyr) c.4096G>T (p.Asp1366Tyr) c.2305G>T (p.Asp769Tyr) c.4747G>T (p.Asp1583Tyr) c.4621G>T (p.Asp1541Tyr) c.4564G>T (p.Asp1522Tyr) c.4291G>T (p.Asp1431Tyr) c.4678G>T (p.Asp1560Tyr) c.4612G>T (p.Asp1538Tyr) c.4552G>T (p.Asp1518Tyr) c.4438G>T (p.Asp1480Tyr) c.4417G>T (p.Asp1473Tyr) c.4282G>T (p.Asp1428Tyr) c.4222G>T (p.Asp1408Tyr) c.4156G>T (p.Asp1386Tyr) c.4153G>T (p.Asp1385Tyr) c.4144G>T (p.Asp1382Tyr) c.4087G>T (p.Asp1363Tyr) c.3970G>T (p.Asp1324Tyr) | |
3 | g.77644854A>C | CA353533767 | ROBO2 | c.4280A>C (p.Asp1427Ala) c.4271A>C (p.Asp1424Ala) c.4166A>C (p.Asp1389Ala) c.4358A>C (p.Asp1453Ala) c.*1028A>C (n.*1028A>C) c.4370A>C (p.Asp1457Ala) c.4544A>C (p.Asp1515Ala) c.*2518A>C (n.*2518A>C) c.4211A>C (p.Asp1404Ala) c.626A>C (p.Asp209Ala) c.4268A>C (p.Asp1423Ala) c.4085A>C (p.Asp1362Ala) n.6073A>C c.*2529A>C (n.*2529A>C) c.579A>C c.4133A>C (p.Asp1378Ala) c.543A>C c.3701A>C (p.Asp1234Ala) c.4097A>C (p.Asp1366Ala) c.2306A>C (p.Asp769Ala) c.4748A>C (p.Asp1583Ala) c.4622A>C (p.Asp1541Ala) c.4565A>C (p.Asp1522Ala) c.4292A>C (p.Asp1431Ala) c.4679A>C (p.Asp1560Ala) c.4613A>C (p.Asp1538Ala) c.4553A>C (p.Asp1518Ala) c.4439A>C (p.Asp1480Ala) c.4418A>C (p.Asp1473Ala) c.4283A>C (p.Asp1428Ala) c.4223A>C (p.Asp1408Ala) c.4157A>C (p.Asp1386Ala) c.4154A>C (p.Asp1385Ala) c.4145A>C (p.Asp1382Ala) c.4088A>C (p.Asp1363Ala) c.3971A>C (p.Asp1324Ala) | |
3 | g.77644854A>G | CA353533769 | ROBO2 | c.4280A>G (p.Asp1427Gly) c.4271A>G (p.Asp1424Gly) c.4166A>G (p.Asp1389Gly) c.4358A>G (p.Asp1453Gly) c.*1028A>G (n.*1028A>G) c.4370A>G (p.Asp1457Gly) c.4544A>G (p.Asp1515Gly) c.*2518A>G (n.*2518A>G) c.4211A>G (p.Asp1404Gly) c.626A>G (p.Asp209Gly) c.4268A>G (p.Asp1423Gly) c.4085A>G (p.Asp1362Gly) n.6073A>G c.*2529A>G (n.*2529A>G) c.579A>G c.4133A>G (p.Asp1378Gly) c.543A>G c.3701A>G (p.Asp1234Gly) c.4097A>G (p.Asp1366Gly) c.2306A>G (p.Asp769Gly) c.4748A>G (p.Asp1583Gly) c.4622A>G (p.Asp1541Gly) c.4565A>G (p.Asp1522Gly) c.4292A>G (p.Asp1431Gly) c.4679A>G (p.Asp1560Gly) c.4613A>G (p.Asp1538Gly) c.4553A>G (p.Asp1518Gly) c.4439A>G (p.Asp1480Gly) c.4418A>G (p.Asp1473Gly) c.4283A>G (p.Asp1428Gly) c.4223A>G (p.Asp1408Gly) c.4157A>G (p.Asp1386Gly) c.4154A>G (p.Asp1385Gly) c.4145A>G (p.Asp1382Gly) c.4088A>G (p.Asp1363Gly) c.3971A>G (p.Asp1324Gly) | COSMIC COSMIC |
3 | g.77644854A>T | CA353533770 | ROBO2 | c.4280A>T (p.Asp1427Val) c.4271A>T (p.Asp1424Val) c.4166A>T (p.Asp1389Val) c.4358A>T (p.Asp1453Val) c.*1028A>T (n.*1028A>T) c.4370A>T (p.Asp1457Val) c.4544A>T (p.Asp1515Val) c.*2518A>T (n.*2518A>T) c.4211A>T (p.Asp1404Val) c.626A>T (p.Asp209Val) c.4268A>T (p.Asp1423Val) c.4085A>T (p.Asp1362Val) n.6073A>T c.*2529A>T (n.*2529A>T) c.579A>T c.4133A>T (p.Asp1378Val) c.543A>T c.3701A>T (p.Asp1234Val) c.4097A>T (p.Asp1366Val) c.2306A>T (p.Asp769Val) c.4748A>T (p.Asp1583Val) c.4622A>T (p.Asp1541Val) c.4565A>T (p.Asp1522Val) c.4292A>T (p.Asp1431Val) c.4679A>T (p.Asp1560Val) c.4613A>T (p.Asp1538Val) c.4553A>T (p.Asp1518Val) c.4439A>T (p.Asp1480Val) c.4418A>T (p.Asp1473Val) c.4283A>T (p.Asp1428Val) c.4223A>T (p.Asp1408Val) c.4157A>T (p.Asp1386Val) c.4154A>T (p.Asp1385Val) c.4145A>T (p.Asp1382Val) c.4088A>T (p.Asp1363Val) c.3971A>T (p.Asp1324Val) | |
3 | g.77644855C>A | CA353533773 | ROBO2 | c.4281C>A (p.Asp1427Glu) c.4272C>A (p.Asp1424Glu) c.4167C>A (p.Asp1389Glu) c.4359C>A (p.Asp1453Glu) c.*1029C>A (n.*1029C>A) c.4371C>A (p.Asp1457Glu) c.4545C>A (p.Asp1515Glu) c.*2519C>A (n.*2519C>A) c.4212C>A (p.Asp1404Glu) c.627C>A (p.Asp209Glu) c.4269C>A (p.Asp1423Glu) c.4086C>A (p.Asp1362Glu) n.6074C>A c.*2530C>A (n.*2530C>A) c.580C>A c.4134C>A (p.Asp1378Glu) c.544C>A c.3702C>A (p.Asp1234Glu) c.4098C>A (p.Asp1366Glu) c.2307C>A (p.Asp769Glu) c.4749C>A (p.Asp1583Glu) c.4623C>A (p.Asp1541Glu) c.4566C>A (p.Asp1522Glu) c.4293C>A (p.Asp1431Glu) c.4680C>A (p.Asp1560Glu) c.4614C>A (p.Asp1538Glu) c.4554C>A (p.Asp1518Glu) c.4440C>A (p.Asp1480Glu) c.4419C>A (p.Asp1473Glu) c.4284C>A (p.Asp1428Glu) c.4224C>A (p.Asp1408Glu) c.4158C>A (p.Asp1386Glu) c.4155C>A (p.Asp1385Glu) c.4146C>A (p.Asp1382Glu) c.4089C>A (p.Asp1363Glu) c.3972C>A (p.Asp1324Glu) | |
3 | g.77644855C= | CA1376777977 | ROBO2 | c.4281C= (p.Asp1427=) c.4272C= (p.Asp1424=) c.4167C= (p.Asp1389=) c.4359C= (p.Asp1453=) c.*1029C= (n.*1029C=) c.4371C= (p.Asp1457=) c.4545C= (p.Asp1515=) c.*2519C= (n.*2519C=) c.4212C= (p.Asp1404=) c.627C= (p.Asp209=) c.4269C= (p.Asp1423=) c.4086C= (p.Asp1362=) n.6074C= c.*2530C= (n.*2530C=) c.580C= c.4134C= (p.Asp1378=) c.544C= c.3702C= (p.Asp1234=) c.4098C= (p.Asp1366=) c.2307C= (p.Asp769=) c.4749C= (p.Asp1583=) c.4623C= (p.Asp1541=) c.4566C= (p.Asp1522=) c.4293C= (p.Asp1431=) c.4680C= (p.Asp1560=) c.4614C= (p.Asp1538=) c.4554C= (p.Asp1518=) c.4440C= (p.Asp1480=) c.4419C= (p.Asp1473=) c.4284C= (p.Asp1428=) c.4224C= (p.Asp1408=) c.4158C= (p.Asp1386=) c.4155C= (p.Asp1385=) c.4146C= (p.Asp1382=) c.4089C= (p.Asp1363=) c.3972C= (p.Asp1324=) | |
3 | g.77644855C>G | CA353533775 | ROBO2 | c.4281C>G (p.Asp1427Glu) c.4272C>G (p.Asp1424Glu) c.4167C>G (p.Asp1389Glu) c.4359C>G (p.Asp1453Glu) c.*1029C>G (n.*1029C>G) c.4371C>G (p.Asp1457Glu) c.4545C>G (p.Asp1515Glu) c.*2519C>G (n.*2519C>G) c.4212C>G (p.Asp1404Glu) c.627C>G (p.Asp209Glu) c.4269C>G (p.Asp1423Glu) c.4086C>G (p.Asp1362Glu) n.6074C>G c.*2530C>G (n.*2530C>G) c.580C>G c.4134C>G (p.Asp1378Glu) c.544C>G c.3702C>G (p.Asp1234Glu) c.4098C>G (p.Asp1366Glu) c.2307C>G (p.Asp769Glu) c.4749C>G (p.Asp1583Glu) c.4623C>G (p.Asp1541Glu) c.4566C>G (p.Asp1522Glu) c.4293C>G (p.Asp1431Glu) c.4680C>G (p.Asp1560Glu) c.4614C>G (p.Asp1538Glu) c.4554C>G (p.Asp1518Glu) c.4440C>G (p.Asp1480Glu) c.4419C>G (p.Asp1473Glu) c.4284C>G (p.Asp1428Glu) c.4224C>G (p.Asp1408Glu) c.4158C>G (p.Asp1386Glu) c.4155C>G (p.Asp1385Glu) c.4146C>G (p.Asp1382Glu) c.4089C>G (p.Asp1363Glu) c.3972C>G (p.Asp1324Glu) | |
3 | g.77644855C>T | CA434435347 | ROBO2 | c.4281C>T (p.Asp1427=) c.4272C>T (p.Asp1424=) c.4167C>T (p.Asp1389=) c.4359C>T (p.Asp1453=) c.*1029C>T (n.*1029C>T) c.4371C>T (p.Asp1457=) c.4545C>T (p.Asp1515=) c.*2519C>T (n.*2519C>T) c.4212C>T (p.Asp1404=) c.627C>T (p.Asp209=) c.4269C>T (p.Asp1423=) c.4086C>T (p.Asp1362=) n.6074C>T c.*2530C>T (n.*2530C>T) c.580C>T c.4134C>T (p.Asp1378=) c.544C>T c.3702C>T (p.Asp1234=) c.4098C>T (p.Asp1366=) c.2307C>T (p.Asp769=) c.4749C>T (p.Asp1583=) c.4623C>T (p.Asp1541=) c.4566C>T (p.Asp1522=) c.4293C>T (p.Asp1431=) c.4680C>T (p.Asp1560=) c.4614C>T (p.Asp1538=) c.4554C>T (p.Asp1518=) c.4440C>T (p.Asp1480=) c.4419C>T (p.Asp1473=) c.4284C>T (p.Asp1428=) c.4224C>T (p.Asp1408=) c.4158C>T (p.Asp1386=) c.4155C>T (p.Asp1385=) c.4146C>T (p.Asp1382=) c.4089C>T (p.Asp1363=) c.3972C>T (p.Asp1324=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644856A= | CA1376777978 | ROBO2 | c.4282A= (p.Ile1428=) c.4273A= (p.Ile1425=) c.4168A= (p.Ile1390=) c.4360A= (p.Ile1454=) c.*1030A= (n.*1030A=) c.4372A= (p.Ile1458=) c.4546A= (p.Ile1516=) c.*2520A= (n.*2520A=) c.4213A= (p.Ile1405=) c.628A= (p.Ile210=) c.4270A= (p.Ile1424=) c.4087A= (p.Ile1363=) n.6075A= c.*2531A= (n.*2531A=) c.581A= c.4135A= (p.Ile1379=) c.545A= c.3703A= (p.Ile1235=) c.4099A= (p.Ile1367=) c.2308A= (p.Ile770=) c.4750A= (p.Ile1584=) c.4624A= (p.Ile1542=) c.4567A= (p.Ile1523=) c.4294A= (p.Ile1432=) c.4681A= (p.Ile1561=) c.4615A= (p.Ile1539=) c.4555A= (p.Ile1519=) c.4441A= (p.Ile1481=) c.4420A= (p.Ile1474=) c.4285A= (p.Ile1429=) c.4225A= (p.Ile1409=) c.4159A= (p.Ile1387=) c.4156A= (p.Ile1386=) c.4147A= (p.Ile1383=) c.4090A= (p.Ile1364=) c.3973A= (p.Ile1325=) | |
3 | g.77644856A>C | CA353533781 | ROBO2 | c.4282A>C (p.Ile1428Leu) c.4273A>C (p.Ile1425Leu) c.4168A>C (p.Ile1390Leu) c.4360A>C (p.Ile1454Leu) c.*1030A>C (n.*1030A>C) c.4372A>C (p.Ile1458Leu) c.4546A>C (p.Ile1516Leu) c.*2520A>C (n.*2520A>C) c.4213A>C (p.Ile1405Leu) c.628A>C (p.Ile210Leu) c.4270A>C (p.Ile1424Leu) c.4087A>C (p.Ile1363Leu) n.6075A>C c.*2531A>C (n.*2531A>C) c.581A>C c.4135A>C (p.Ile1379Leu) c.545A>C c.3703A>C (p.Ile1235Leu) c.4099A>C (p.Ile1367Leu) c.2308A>C (p.Ile770Leu) c.4750A>C (p.Ile1584Leu) c.4624A>C (p.Ile1542Leu) c.4567A>C (p.Ile1523Leu) c.4294A>C (p.Ile1432Leu) c.4681A>C (p.Ile1561Leu) c.4615A>C (p.Ile1539Leu) c.4555A>C (p.Ile1519Leu) c.4441A>C (p.Ile1481Leu) c.4420A>C (p.Ile1474Leu) c.4285A>C (p.Ile1429Leu) c.4225A>C (p.Ile1409Leu) c.4159A>C (p.Ile1387Leu) c.4156A>C (p.Ile1386Leu) c.4147A>C (p.Ile1383Leu) c.4090A>C (p.Ile1364Leu) c.3973A>C (p.Ile1325Leu) | |
3 | g.77644856A>G | CA353533779 | ROBO2 | c.4282A>G (p.Ile1428Val) c.4273A>G (p.Ile1425Val) c.4168A>G (p.Ile1390Val) c.4360A>G (p.Ile1454Val) c.*1030A>G (n.*1030A>G) c.4372A>G (p.Ile1458Val) c.4546A>G (p.Ile1516Val) c.*2520A>G (n.*2520A>G) c.4213A>G (p.Ile1405Val) c.628A>G (p.Ile210Val) c.4270A>G (p.Ile1424Val) c.4087A>G (p.Ile1363Val) n.6075A>G c.*2531A>G (n.*2531A>G) c.581A>G c.4135A>G (p.Ile1379Val) c.545A>G c.3703A>G (p.Ile1235Val) c.4099A>G (p.Ile1367Val) c.2308A>G (p.Ile770Val) c.4750A>G (p.Ile1584Val) c.4624A>G (p.Ile1542Val) c.4567A>G (p.Ile1523Val) c.4294A>G (p.Ile1432Val) c.4681A>G (p.Ile1561Val) c.4615A>G (p.Ile1539Val) c.4555A>G (p.Ile1519Val) c.4441A>G (p.Ile1481Val) c.4420A>G (p.Ile1474Val) c.4285A>G (p.Ile1429Val) c.4225A>G (p.Ile1409Val) c.4159A>G (p.Ile1387Val) c.4156A>G (p.Ile1386Val) c.4147A>G (p.Ile1383Val) c.4090A>G (p.Ile1364Val) c.3973A>G (p.Ile1325Val) | dbSNP gnomAD v4 |
3 | g.77644856A>T | CA353533778 | ROBO2 | c.4282A>T (p.Ile1428Leu) c.4273A>T (p.Ile1425Leu) c.4168A>T (p.Ile1390Leu) c.4360A>T (p.Ile1454Leu) c.*1030A>T (n.*1030A>T) c.4372A>T (p.Ile1458Leu) c.4546A>T (p.Ile1516Leu) c.*2520A>T (n.*2520A>T) c.4213A>T (p.Ile1405Leu) c.628A>T (p.Ile210Leu) c.4270A>T (p.Ile1424Leu) c.4087A>T (p.Ile1363Leu) n.6075A>T c.*2531A>T (n.*2531A>T) c.581A>T c.4135A>T (p.Ile1379Leu) c.545A>T c.3703A>T (p.Ile1235Leu) c.4099A>T (p.Ile1367Leu) c.2308A>T (p.Ile770Leu) c.4750A>T (p.Ile1584Leu) c.4624A>T (p.Ile1542Leu) c.4567A>T (p.Ile1523Leu) c.4294A>T (p.Ile1432Leu) c.4681A>T (p.Ile1561Leu) c.4615A>T (p.Ile1539Leu) c.4555A>T (p.Ile1519Leu) c.4441A>T (p.Ile1481Leu) c.4420A>T (p.Ile1474Leu) c.4285A>T (p.Ile1429Leu) c.4225A>T (p.Ile1409Leu) c.4159A>T (p.Ile1387Leu) c.4156A>T (p.Ile1386Leu) c.4147A>T (p.Ile1383Leu) c.4090A>T (p.Ile1364Leu) c.3973A>T (p.Ile1325Leu) | |
3 | g.77644857T>A | CA353533784 | ROBO2 | c.4283T>A (p.Ile1428Lys) c.4274T>A (p.Ile1425Lys) c.4169T>A (p.Ile1390Lys) c.4361T>A (p.Ile1454Lys) c.*1031T>A (n.*1031T>A) c.4373T>A (p.Ile1458Lys) c.4547T>A (p.Ile1516Lys) c.*2521T>A (n.*2521T>A) c.4214T>A (p.Ile1405Lys) c.629T>A (p.Ile210Lys) c.4271T>A (p.Ile1424Lys) c.4088T>A (p.Ile1363Lys) n.6076T>A c.*2532T>A (n.*2532T>A) c.582T>A c.4136T>A (p.Ile1379Lys) c.546T>A c.3704T>A (p.Ile1235Lys) c.4100T>A (p.Ile1367Lys) c.2309T>A (p.Ile770Lys) c.4751T>A (p.Ile1584Lys) c.4625T>A (p.Ile1542Lys) c.4568T>A (p.Ile1523Lys) c.4295T>A (p.Ile1432Lys) c.4682T>A (p.Ile1561Lys) c.4616T>A (p.Ile1539Lys) c.4556T>A (p.Ile1519Lys) c.4442T>A (p.Ile1481Lys) c.4421T>A (p.Ile1474Lys) c.4286T>A (p.Ile1429Lys) c.4226T>A (p.Ile1409Lys) c.4160T>A (p.Ile1387Lys) c.4157T>A (p.Ile1386Lys) c.4148T>A (p.Ile1383Lys) c.4091T>A (p.Ile1364Lys) c.3974T>A (p.Ile1325Lys) | gnomAD v4 |
3 | g.77644857T>C | CA353533787 | ROBO2 | c.4283T>C (p.Ile1428Thr) c.4274T>C (p.Ile1425Thr) c.4169T>C (p.Ile1390Thr) c.4361T>C (p.Ile1454Thr) c.*1031T>C (n.*1031T>C) c.4373T>C (p.Ile1458Thr) c.4547T>C (p.Ile1516Thr) c.*2521T>C (n.*2521T>C) c.4214T>C (p.Ile1405Thr) c.629T>C (p.Ile210Thr) c.4271T>C (p.Ile1424Thr) c.4088T>C (p.Ile1363Thr) n.6076T>C c.*2532T>C (n.*2532T>C) c.582T>C c.4136T>C (p.Ile1379Thr) c.546T>C c.3704T>C (p.Ile1235Thr) c.4100T>C (p.Ile1367Thr) c.2309T>C (p.Ile770Thr) c.4751T>C (p.Ile1584Thr) c.4625T>C (p.Ile1542Thr) c.4568T>C (p.Ile1523Thr) c.4295T>C (p.Ile1432Thr) c.4682T>C (p.Ile1561Thr) c.4616T>C (p.Ile1539Thr) c.4556T>C (p.Ile1519Thr) c.4442T>C (p.Ile1481Thr) c.4421T>C (p.Ile1474Thr) c.4286T>C (p.Ile1429Thr) c.4226T>C (p.Ile1409Thr) c.4160T>C (p.Ile1387Thr) c.4157T>C (p.Ile1386Thr) c.4148T>C (p.Ile1383Thr) c.4091T>C (p.Ile1364Thr) c.3974T>C (p.Ile1325Thr) | gnomAD v4 |
3 | g.77644857T>G | CA353533785 | ROBO2 | c.4283T>G (p.Ile1428Arg) c.4274T>G (p.Ile1425Arg) c.4169T>G (p.Ile1390Arg) c.4361T>G (p.Ile1454Arg) c.*1031T>G (n.*1031T>G) c.4373T>G (p.Ile1458Arg) c.4547T>G (p.Ile1516Arg) c.*2521T>G (n.*2521T>G) c.4214T>G (p.Ile1405Arg) c.629T>G (p.Ile210Arg) c.4271T>G (p.Ile1424Arg) c.4088T>G (p.Ile1363Arg) n.6076T>G c.*2532T>G (n.*2532T>G) c.582T>G c.4136T>G (p.Ile1379Arg) c.546T>G c.3704T>G (p.Ile1235Arg) c.4100T>G (p.Ile1367Arg) c.2309T>G (p.Ile770Arg) c.4751T>G (p.Ile1584Arg) c.4625T>G (p.Ile1542Arg) c.4568T>G (p.Ile1523Arg) c.4295T>G (p.Ile1432Arg) c.4682T>G (p.Ile1561Arg) c.4616T>G (p.Ile1539Arg) c.4556T>G (p.Ile1519Arg) c.4442T>G (p.Ile1481Arg) c.4421T>G (p.Ile1474Arg) c.4286T>G (p.Ile1429Arg) c.4226T>G (p.Ile1409Arg) c.4160T>G (p.Ile1387Arg) c.4157T>G (p.Ile1386Arg) c.4148T>G (p.Ile1383Arg) c.4091T>G (p.Ile1364Arg) c.3974T>G (p.Ile1325Arg) | |
3 | g.77644858A>C | CA434435353 | ROBO2 | c.4284A>C (p.Ile1428=) c.4275A>C (p.Ile1425=) c.4170A>C (p.Ile1390=) c.4362A>C (p.Ile1454=) c.*1032A>C (n.*1032A>C) c.4374A>C (p.Ile1458=) c.4548A>C (p.Ile1516=) c.*2522A>C (n.*2522A>C) c.4215A>C (p.Ile1405=) c.630A>C (p.Ile210=) c.4272A>C (p.Ile1424=) c.4089A>C (p.Ile1363=) n.6077A>C c.*2533A>C (n.*2533A>C) c.583A>C c.4137A>C (p.Ile1379=) c.547A>C c.3705A>C (p.Ile1235=) c.4101A>C (p.Ile1367=) c.2310A>C (p.Ile770=) c.4752A>C (p.Ile1584=) c.4626A>C (p.Ile1542=) c.4569A>C (p.Ile1523=) c.4296A>C (p.Ile1432=) c.4683A>C (p.Ile1561=) c.4617A>C (p.Ile1539=) c.4557A>C (p.Ile1519=) c.4443A>C (p.Ile1481=) c.4422A>C (p.Ile1474=) c.4287A>C (p.Ile1429=) c.4227A>C (p.Ile1409=) c.4161A>C (p.Ile1387=) c.4158A>C (p.Ile1386=) c.4149A>C (p.Ile1383=) c.4092A>C (p.Ile1364=) c.3975A>C (p.Ile1325=) | |
3 | g.77644858A>G | CA353533790 | ROBO2 | c.4284A>G (p.Ile1428Met) c.4275A>G (p.Ile1425Met) c.4170A>G (p.Ile1390Met) c.4362A>G (p.Ile1454Met) c.*1032A>G (n.*1032A>G) c.4374A>G (p.Ile1458Met) c.4548A>G (p.Ile1516Met) c.*2522A>G (n.*2522A>G) c.4215A>G (p.Ile1405Met) c.630A>G (p.Ile210Met) c.4272A>G (p.Ile1424Met) c.4089A>G (p.Ile1363Met) n.6077A>G c.*2533A>G (n.*2533A>G) c.583A>G c.4137A>G (p.Ile1379Met) c.547A>G c.3705A>G (p.Ile1235Met) c.4101A>G (p.Ile1367Met) c.2310A>G (p.Ile770Met) c.4752A>G (p.Ile1584Met) c.4626A>G (p.Ile1542Met) c.4569A>G (p.Ile1523Met) c.4296A>G (p.Ile1432Met) c.4683A>G (p.Ile1561Met) c.4617A>G (p.Ile1539Met) c.4557A>G (p.Ile1519Met) c.4443A>G (p.Ile1481Met) c.4422A>G (p.Ile1474Met) c.4287A>G (p.Ile1429Met) c.4227A>G (p.Ile1409Met) c.4161A>G (p.Ile1387Met) c.4158A>G (p.Ile1386Met) c.4149A>G (p.Ile1383Met) c.4092A>G (p.Ile1364Met) c.3975A>G (p.Ile1325Met) | gnomAD v4 |
3 | g.77644858A>T | CA434435355 | ROBO2 | c.4284A>T (p.Ile1428=) c.4275A>T (p.Ile1425=) c.4170A>T (p.Ile1390=) c.4362A>T (p.Ile1454=) c.*1032A>T (n.*1032A>T) c.4374A>T (p.Ile1458=) c.4548A>T (p.Ile1516=) c.*2522A>T (n.*2522A>T) c.4215A>T (p.Ile1405=) c.630A>T (p.Ile210=) c.4272A>T (p.Ile1424=) c.4089A>T (p.Ile1363=) n.6077A>T c.*2533A>T (n.*2533A>T) c.583A>T c.4137A>T (p.Ile1379=) c.547A>T c.3705A>T (p.Ile1235=) c.4101A>T (p.Ile1367=) c.2310A>T (p.Ile770=) c.4752A>T (p.Ile1584=) c.4626A>T (p.Ile1542=) c.4569A>T (p.Ile1523=) c.4296A>T (p.Ile1432=) c.4683A>T (p.Ile1561=) c.4617A>T (p.Ile1539=) c.4557A>T (p.Ile1519=) c.4443A>T (p.Ile1481=) c.4422A>T (p.Ile1474=) c.4287A>T (p.Ile1429=) c.4227A>T (p.Ile1409=) c.4161A>T (p.Ile1387=) c.4158A>T (p.Ile1386=) c.4149A>T (p.Ile1383=) c.4092A>T (p.Ile1364=) c.3975A>T (p.Ile1325=) | |
3 | g.77644859G>A | CA2497844 | ROBO2 | c.4285G>A (p.Gly1429Arg) c.4276G>A (p.Gly1426Arg) c.4171G>A (p.Gly1391Arg) c.4363G>A (p.Gly1455Arg) c.*1033G>A (n.*1033G>A) c.4375G>A (p.Gly1459Arg) c.4549G>A (p.Gly1517Arg) c.*2523G>A (n.*2523G>A) c.4216G>A (p.Gly1406Arg) c.631G>A (p.Gly211Arg) c.4273G>A (p.Gly1425Arg) c.4090G>A (p.Gly1364Arg) n.6078G>A c.*2534G>A (n.*2534G>A) c.584G>A c.4138G>A (p.Gly1380Arg) c.548G>A c.3706G>A (p.Gly1236Arg) c.4102G>A (p.Gly1368Arg) c.2311G>A (p.Gly771Arg) c.4753G>A (p.Gly1585Arg) c.4627G>A (p.Gly1543Arg) c.4570G>A (p.Gly1524Arg) c.4297G>A (p.Gly1433Arg) c.4684G>A (p.Gly1562Arg) c.4618G>A (p.Gly1540Arg) c.4558G>A (p.Gly1520Arg) c.4444G>A (p.Gly1482Arg) c.4423G>A (p.Gly1475Arg) c.4288G>A (p.Gly1430Arg) c.4228G>A (p.Gly1410Arg) c.4162G>A (p.Gly1388Arg) c.4159G>A (p.Gly1387Arg) c.4150G>A (p.Gly1384Arg) c.4093G>A (p.Gly1365Arg) c.3976G>A (p.Gly1326Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644859G>C | CA353533793 | ROBO2 | c.4285G>C (p.Gly1429Arg) c.4276G>C (p.Gly1426Arg) c.4171G>C (p.Gly1391Arg) c.4363G>C (p.Gly1455Arg) c.*1033G>C (n.*1033G>C) c.4375G>C (p.Gly1459Arg) c.4549G>C (p.Gly1517Arg) c.*2523G>C (n.*2523G>C) c.4216G>C (p.Gly1406Arg) c.631G>C (p.Gly211Arg) c.4273G>C (p.Gly1425Arg) c.4090G>C (p.Gly1364Arg) n.6078G>C c.*2534G>C (n.*2534G>C) c.584G>C c.4138G>C (p.Gly1380Arg) c.548G>C c.3706G>C (p.Gly1236Arg) c.4102G>C (p.Gly1368Arg) c.2311G>C (p.Gly771Arg) c.4753G>C (p.Gly1585Arg) c.4627G>C (p.Gly1543Arg) c.4570G>C (p.Gly1524Arg) c.4297G>C (p.Gly1433Arg) c.4684G>C (p.Gly1562Arg) c.4618G>C (p.Gly1540Arg) c.4558G>C (p.Gly1520Arg) c.4444G>C (p.Gly1482Arg) c.4423G>C (p.Gly1475Arg) c.4288G>C (p.Gly1430Arg) c.4228G>C (p.Gly1410Arg) c.4162G>C (p.Gly1388Arg) c.4159G>C (p.Gly1387Arg) c.4150G>C (p.Gly1384Arg) c.4093G>C (p.Gly1365Arg) c.3976G>C (p.Gly1326Arg) | |
3 | g.77644859G= | CA1376777979 | ROBO2 | c.4285G= (p.Gly1429=) c.4276G= (p.Gly1426=) c.4171G= (p.Gly1391=) c.4363G= (p.Gly1455=) c.*1033G= (n.*1033G=) c.4375G= (p.Gly1459=) c.4549G= (p.Gly1517=) c.*2523G= (n.*2523G=) c.4216G= (p.Gly1406=) c.631G= (p.Gly211=) c.4273G= (p.Gly1425=) c.4090G= (p.Gly1364=) n.6078G= c.*2534G= (n.*2534G=) c.584G= c.4138G= (p.Gly1380=) c.548G= c.3706G= (p.Gly1236=) c.4102G= (p.Gly1368=) c.2311G= (p.Gly771=) c.4753G= (p.Gly1585=) c.4627G= (p.Gly1543=) c.4570G= (p.Gly1524=) c.4297G= (p.Gly1433=) c.4684G= (p.Gly1562=) c.4618G= (p.Gly1540=) c.4558G= (p.Gly1520=) c.4444G= (p.Gly1482=) c.4423G= (p.Gly1475=) c.4288G= (p.Gly1430=) c.4228G= (p.Gly1410=) c.4162G= (p.Gly1388=) c.4159G= (p.Gly1387=) c.4150G= (p.Gly1384=) c.4093G= (p.Gly1365=) c.3976G= (p.Gly1326=) | |
3 | g.77644859G>T | CA353533794 | ROBO2 | c.4285G>T (p.Gly1429Ter) c.4276G>T (p.Gly1426Ter) c.4171G>T (p.Gly1391Ter) c.4363G>T (p.Gly1455Ter) c.*1033G>T (n.*1033G>T) c.4375G>T (p.Gly1459Ter) c.4549G>T (p.Gly1517Ter) c.*2523G>T (n.*2523G>T) c.4216G>T (p.Gly1406Ter) c.631G>T (p.Gly211Ter) c.4273G>T (p.Gly1425Ter) c.4090G>T (p.Gly1364Ter) n.6078G>T c.*2534G>T (n.*2534G>T) c.584G>T c.4138G>T (p.Gly1380Ter) c.548G>T c.3706G>T (p.Gly1236Ter) c.4102G>T (p.Gly1368Ter) c.2311G>T (p.Gly771Ter) c.4753G>T (p.Gly1585Ter) c.4627G>T (p.Gly1543Ter) c.4570G>T (p.Gly1524Ter) c.4297G>T (p.Gly1433Ter) c.4684G>T (p.Gly1562Ter) c.4618G>T (p.Gly1540Ter) c.4558G>T (p.Gly1520Ter) c.4444G>T (p.Gly1482Ter) c.4423G>T (p.Gly1475Ter) c.4288G>T (p.Gly1430Ter) c.4228G>T (p.Gly1410Ter) c.4162G>T (p.Gly1388Ter) c.4159G>T (p.Gly1387Ter) c.4150G>T (p.Gly1384Ter) c.4093G>T (p.Gly1365Ter) c.3976G>T (p.Gly1326Ter) | |
3 | g.77644860G>A | CA353533796 | ROBO2 | c.4286G>A (p.Gly1429Glu) c.4277G>A (p.Gly1426Glu) c.4172G>A (p.Gly1391Glu) c.4364G>A (p.Gly1455Glu) c.*1034G>A (n.*1034G>A) c.4376G>A (p.Gly1459Glu) c.4550G>A (p.Gly1517Glu) c.*2524G>A (n.*2524G>A) c.4217G>A (p.Gly1406Glu) c.632G>A (p.Gly211Glu) c.4274G>A (p.Gly1425Glu) c.4091G>A (p.Gly1364Glu) n.6079G>A c.*2535G>A (n.*2535G>A) c.585G>A c.4139G>A (p.Gly1380Glu) c.549G>A c.3707G>A (p.Gly1236Glu) c.4103G>A (p.Gly1368Glu) c.2312G>A (p.Gly771Glu) c.4754G>A (p.Gly1585Glu) c.4628G>A (p.Gly1543Glu) c.4571G>A (p.Gly1524Glu) c.4298G>A (p.Gly1433Glu) c.4685G>A (p.Gly1562Glu) c.4619G>A (p.Gly1540Glu) c.4559G>A (p.Gly1520Glu) c.4445G>A (p.Gly1482Glu) c.4424G>A (p.Gly1475Glu) c.4289G>A (p.Gly1430Glu) c.4229G>A (p.Gly1410Glu) c.4163G>A (p.Gly1388Glu) c.4160G>A (p.Gly1387Glu) c.4151G>A (p.Gly1384Glu) c.4094G>A (p.Gly1365Glu) c.3977G>A (p.Gly1326Glu) | |
3 | g.77644860G>C | CA353533798 | ROBO2 | c.4286G>C (p.Gly1429Ala) c.4277G>C (p.Gly1426Ala) c.4172G>C (p.Gly1391Ala) c.4364G>C (p.Gly1455Ala) c.*1034G>C (n.*1034G>C) c.4376G>C (p.Gly1459Ala) c.4550G>C (p.Gly1517Ala) c.*2524G>C (n.*2524G>C) c.4217G>C (p.Gly1406Ala) c.632G>C (p.Gly211Ala) c.4274G>C (p.Gly1425Ala) c.4091G>C (p.Gly1364Ala) n.6079G>C c.*2535G>C (n.*2535G>C) c.585G>C c.4139G>C (p.Gly1380Ala) c.549G>C c.3707G>C (p.Gly1236Ala) c.4103G>C (p.Gly1368Ala) c.2312G>C (p.Gly771Ala) c.4754G>C (p.Gly1585Ala) c.4628G>C (p.Gly1543Ala) c.4571G>C (p.Gly1524Ala) c.4298G>C (p.Gly1433Ala) c.4685G>C (p.Gly1562Ala) c.4619G>C (p.Gly1540Ala) c.4559G>C (p.Gly1520Ala) c.4445G>C (p.Gly1482Ala) c.4424G>C (p.Gly1475Ala) c.4289G>C (p.Gly1430Ala) c.4229G>C (p.Gly1410Ala) c.4163G>C (p.Gly1388Ala) c.4160G>C (p.Gly1387Ala) c.4151G>C (p.Gly1384Ala) c.4094G>C (p.Gly1365Ala) c.3977G>C (p.Gly1326Ala) | |
3 | g.77644860G>T | CA353533799 | ROBO2 | c.4286G>T (p.Gly1429Val) c.4277G>T (p.Gly1426Val) c.4172G>T (p.Gly1391Val) c.4364G>T (p.Gly1455Val) c.*1034G>T (n.*1034G>T) c.4376G>T (p.Gly1459Val) c.4550G>T (p.Gly1517Val) c.*2524G>T (n.*2524G>T) c.4217G>T (p.Gly1406Val) c.632G>T (p.Gly211Val) c.4274G>T (p.Gly1425Val) c.4091G>T (p.Gly1364Val) n.6079G>T c.*2535G>T (n.*2535G>T) c.585G>T c.4139G>T (p.Gly1380Val) c.549G>T c.3707G>T (p.Gly1236Val) c.4103G>T (p.Gly1368Val) c.2312G>T (p.Gly771Val) c.4754G>T (p.Gly1585Val) c.4628G>T (p.Gly1543Val) c.4571G>T (p.Gly1524Val) c.4298G>T (p.Gly1433Val) c.4685G>T (p.Gly1562Val) c.4619G>T (p.Gly1540Val) c.4559G>T (p.Gly1520Val) c.4445G>T (p.Gly1482Val) c.4424G>T (p.Gly1475Val) c.4289G>T (p.Gly1430Val) c.4229G>T (p.Gly1410Val) c.4163G>T (p.Gly1388Val) c.4160G>T (p.Gly1387Val) c.4151G>T (p.Gly1384Val) c.4094G>T (p.Gly1365Val) c.3977G>T (p.Gly1326Val) | |
3 | g.77644861A>C | CA434435358 | ROBO2 | c.4287A>C (p.Gly1429=) c.4278A>C (p.Gly1426=) c.4173A>C (p.Gly1391=) c.4365A>C (p.Gly1455=) c.*1035A>C (n.*1035A>C) c.4377A>C (p.Gly1459=) c.4551A>C (p.Gly1517=) c.*2525A>C (n.*2525A>C) c.4218A>C (p.Gly1406=) c.633A>C (p.Gly211=) c.4275A>C (p.Gly1425=) c.4092A>C (p.Gly1364=) n.6080A>C c.*2536A>C (n.*2536A>C) c.586A>C c.4140A>C (p.Gly1380=) c.550A>C c.3708A>C (p.Gly1236=) c.4104A>C (p.Gly1368=) c.2313A>C (p.Gly771=) c.4755A>C (p.Gly1585=) c.4629A>C (p.Gly1543=) c.4572A>C (p.Gly1524=) c.4299A>C (p.Gly1433=) c.4686A>C (p.Gly1562=) c.4620A>C (p.Gly1540=) c.4560A>C (p.Gly1520=) c.4446A>C (p.Gly1482=) c.4425A>C (p.Gly1475=) c.4290A>C (p.Gly1430=) c.4230A>C (p.Gly1410=) c.4164A>C (p.Gly1388=) c.4161A>C (p.Gly1387=) c.4152A>C (p.Gly1384=) c.4095A>C (p.Gly1365=) c.3978A>C (p.Gly1326=) | |
3 | g.77644861A>G | CA434435357 | ROBO2 | c.4287A>G (p.Gly1429=) c.4278A>G (p.Gly1426=) c.4173A>G (p.Gly1391=) c.4365A>G (p.Gly1455=) c.*1035A>G (n.*1035A>G) c.4377A>G (p.Gly1459=) c.4551A>G (p.Gly1517=) c.*2525A>G (n.*2525A>G) c.4218A>G (p.Gly1406=) c.633A>G (p.Gly211=) c.4275A>G (p.Gly1425=) c.4092A>G (p.Gly1364=) n.6080A>G c.*2536A>G (n.*2536A>G) c.586A>G c.4140A>G (p.Gly1380=) c.550A>G c.3708A>G (p.Gly1236=) c.4104A>G (p.Gly1368=) c.2313A>G (p.Gly771=) c.4755A>G (p.Gly1585=) c.4629A>G (p.Gly1543=) c.4572A>G (p.Gly1524=) c.4299A>G (p.Gly1433=) c.4686A>G (p.Gly1562=) c.4620A>G (p.Gly1540=) c.4560A>G (p.Gly1520=) c.4446A>G (p.Gly1482=) c.4425A>G (p.Gly1475=) c.4290A>G (p.Gly1430=) c.4230A>G (p.Gly1410=) c.4164A>G (p.Gly1388=) c.4161A>G (p.Gly1387=) c.4152A>G (p.Gly1384=) c.4095A>G (p.Gly1365=) c.3978A>G (p.Gly1326=) | |
3 | g.77644861A>T | CA434435356 | ROBO2 | c.4287A>T (p.Gly1429=) c.4278A>T (p.Gly1426=) c.4173A>T (p.Gly1391=) c.4365A>T (p.Gly1455=) c.*1035A>T (n.*1035A>T) c.4377A>T (p.Gly1459=) c.4551A>T (p.Gly1517=) c.*2525A>T (n.*2525A>T) c.4218A>T (p.Gly1406=) c.633A>T (p.Gly211=) c.4275A>T (p.Gly1425=) c.4092A>T (p.Gly1364=) n.6080A>T c.*2536A>T (n.*2536A>T) c.586A>T c.4140A>T (p.Gly1380=) c.550A>T c.3708A>T (p.Gly1236=) c.4104A>T (p.Gly1368=) c.2313A>T (p.Gly771=) c.4755A>T (p.Gly1585=) c.4629A>T (p.Gly1543=) c.4572A>T (p.Gly1524=) c.4299A>T (p.Gly1433=) c.4686A>T (p.Gly1562=) c.4620A>T (p.Gly1540=) c.4560A>T (p.Gly1520=) c.4446A>T (p.Gly1482=) c.4425A>T (p.Gly1475=) c.4290A>T (p.Gly1430=) c.4230A>T (p.Gly1410=) c.4164A>T (p.Gly1388=) c.4161A>T (p.Gly1387=) c.4152A>T (p.Gly1384=) c.4095A>T (p.Gly1365=) c.3978A>T (p.Gly1326=) | |
3 | g.77644862T>A | CA353533800 | ROBO2 | c.4288T>A (p.Tyr1430Asn) c.4279T>A (p.Tyr1427Asn) c.4174T>A (p.Tyr1392Asn) c.4366T>A (p.Tyr1456Asn) c.*1036T>A (n.*1036T>A) c.4378T>A (p.Tyr1460Asn) c.4552T>A (p.Tyr1518Asn) c.*2526T>A (n.*2526T>A) c.4219T>A (p.Tyr1407Asn) c.634T>A (p.Tyr212Asn) c.4276T>A (p.Tyr1426Asn) c.4093T>A (p.Tyr1365Asn) n.6081T>A c.*2537T>A (n.*2537T>A) c.587T>A c.4141T>A (p.Tyr1381Asn) c.551T>A c.3709T>A (p.Tyr1237Asn) c.4105T>A (p.Tyr1369Asn) c.2314T>A (p.Tyr772Asn) c.4756T>A (p.Tyr1586Asn) c.4630T>A (p.Tyr1544Asn) c.4573T>A (p.Tyr1525Asn) c.4300T>A (p.Tyr1434Asn) c.4687T>A (p.Tyr1563Asn) c.4621T>A (p.Tyr1541Asn) c.4561T>A (p.Tyr1521Asn) c.4447T>A (p.Tyr1483Asn) c.4426T>A (p.Tyr1476Asn) c.4291T>A (p.Tyr1431Asn) c.4231T>A (p.Tyr1411Asn) c.4165T>A (p.Tyr1389Asn) c.4162T>A (p.Tyr1388Asn) c.4153T>A (p.Tyr1385Asn) c.4096T>A (p.Tyr1366Asn) c.3979T>A (p.Tyr1327Asn) | |
3 | g.77644862T>C | CA353533802 | ROBO2 | c.4288T>C (p.Tyr1430His) c.4279T>C (p.Tyr1427His) c.4174T>C (p.Tyr1392His) c.4366T>C (p.Tyr1456His) c.*1036T>C (n.*1036T>C) c.4378T>C (p.Tyr1460His) c.4552T>C (p.Tyr1518His) c.*2526T>C (n.*2526T>C) c.4219T>C (p.Tyr1407His) c.634T>C (p.Tyr212His) c.4276T>C (p.Tyr1426His) c.4093T>C (p.Tyr1365His) n.6081T>C c.*2537T>C (n.*2537T>C) c.587T>C c.4141T>C (p.Tyr1381His) c.551T>C c.3709T>C (p.Tyr1237His) c.4105T>C (p.Tyr1369His) c.2314T>C (p.Tyr772His) c.4756T>C (p.Tyr1586His) c.4630T>C (p.Tyr1544His) c.4573T>C (p.Tyr1525His) c.4300T>C (p.Tyr1434His) c.4687T>C (p.Tyr1563His) c.4621T>C (p.Tyr1541His) c.4561T>C (p.Tyr1521His) c.4447T>C (p.Tyr1483His) c.4426T>C (p.Tyr1476His) c.4291T>C (p.Tyr1431His) c.4231T>C (p.Tyr1411His) c.4165T>C (p.Tyr1389His) c.4162T>C (p.Tyr1388His) c.4153T>C (p.Tyr1385His) c.4096T>C (p.Tyr1366His) c.3979T>C (p.Tyr1327His) | |
3 | g.77644862T>G | CA353533804 | ROBO2 | c.4288T>G (p.Tyr1430Asp) c.4279T>G (p.Tyr1427Asp) c.4174T>G (p.Tyr1392Asp) c.4366T>G (p.Tyr1456Asp) c.*1036T>G (n.*1036T>G) c.4378T>G (p.Tyr1460Asp) c.4552T>G (p.Tyr1518Asp) c.*2526T>G (n.*2526T>G) c.4219T>G (p.Tyr1407Asp) c.634T>G (p.Tyr212Asp) c.4276T>G (p.Tyr1426Asp) c.4093T>G (p.Tyr1365Asp) n.6081T>G c.*2537T>G (n.*2537T>G) c.587T>G c.4141T>G (p.Tyr1381Asp) c.551T>G c.3709T>G (p.Tyr1237Asp) c.4105T>G (p.Tyr1369Asp) c.2314T>G (p.Tyr772Asp) c.4756T>G (p.Tyr1586Asp) c.4630T>G (p.Tyr1544Asp) c.4573T>G (p.Tyr1525Asp) c.4300T>G (p.Tyr1434Asp) c.4687T>G (p.Tyr1563Asp) c.4621T>G (p.Tyr1541Asp) c.4561T>G (p.Tyr1521Asp) c.4447T>G (p.Tyr1483Asp) c.4426T>G (p.Tyr1476Asp) c.4291T>G (p.Tyr1431Asp) c.4231T>G (p.Tyr1411Asp) c.4165T>G (p.Tyr1389Asp) c.4162T>G (p.Tyr1388Asp) c.4153T>G (p.Tyr1385Asp) c.4096T>G (p.Tyr1366Asp) c.3979T>G (p.Tyr1327Asp) | gnomAD v4 |
3 | g.77644863A>C | CA353533810 | ROBO2 | c.4289A>C (p.Tyr1430Ser) c.4280A>C (p.Tyr1427Ser) c.4175A>C (p.Tyr1392Ser) c.4367A>C (p.Tyr1456Ser) c.*1037A>C (n.*1037A>C) c.4379A>C (p.Tyr1460Ser) c.4553A>C (p.Tyr1518Ser) c.*2527A>C (n.*2527A>C) c.4220A>C (p.Tyr1407Ser) c.635A>C (p.Tyr212Ser) c.4277A>C (p.Tyr1426Ser) c.4094A>C (p.Tyr1365Ser) n.6082A>C c.*2538A>C (n.*2538A>C) c.588A>C c.4142A>C (p.Tyr1381Ser) c.552A>C c.3710A>C (p.Tyr1237Ser) c.4106A>C (p.Tyr1369Ser) c.2315A>C (p.Tyr772Ser) c.4757A>C (p.Tyr1586Ser) c.4631A>C (p.Tyr1544Ser) c.4574A>C (p.Tyr1525Ser) c.4301A>C (p.Tyr1434Ser) c.4688A>C (p.Tyr1563Ser) c.4622A>C (p.Tyr1541Ser) c.4562A>C (p.Tyr1521Ser) c.4448A>C (p.Tyr1483Ser) c.4427A>C (p.Tyr1476Ser) c.4292A>C (p.Tyr1431Ser) c.4232A>C (p.Tyr1411Ser) c.4166A>C (p.Tyr1389Ser) c.4163A>C (p.Tyr1388Ser) c.4154A>C (p.Tyr1385Ser) c.4097A>C (p.Tyr1366Ser) c.3980A>C (p.Tyr1327Ser) | |
3 | g.77644863A>G | CA353533808 | ROBO2 | c.4289A>G (p.Tyr1430Cys) c.4280A>G (p.Tyr1427Cys) c.4175A>G (p.Tyr1392Cys) c.4367A>G (p.Tyr1456Cys) c.*1037A>G (n.*1037A>G) c.4379A>G (p.Tyr1460Cys) c.4553A>G (p.Tyr1518Cys) c.*2527A>G (n.*2527A>G) c.4220A>G (p.Tyr1407Cys) c.635A>G (p.Tyr212Cys) c.4277A>G (p.Tyr1426Cys) c.4094A>G (p.Tyr1365Cys) n.6082A>G c.*2538A>G (n.*2538A>G) c.588A>G c.4142A>G (p.Tyr1381Cys) c.552A>G c.3710A>G (p.Tyr1237Cys) c.4106A>G (p.Tyr1369Cys) c.2315A>G (p.Tyr772Cys) c.4757A>G (p.Tyr1586Cys) c.4631A>G (p.Tyr1544Cys) c.4574A>G (p.Tyr1525Cys) c.4301A>G (p.Tyr1434Cys) c.4688A>G (p.Tyr1563Cys) c.4622A>G (p.Tyr1541Cys) c.4562A>G (p.Tyr1521Cys) c.4448A>G (p.Tyr1483Cys) c.4427A>G (p.Tyr1476Cys) c.4292A>G (p.Tyr1431Cys) c.4232A>G (p.Tyr1411Cys) c.4166A>G (p.Tyr1389Cys) c.4163A>G (p.Tyr1388Cys) c.4154A>G (p.Tyr1385Cys) c.4097A>G (p.Tyr1366Cys) c.3980A>G (p.Tyr1327Cys) | |
3 | g.77644863A>T | CA353533806 | ROBO2 | c.4289A>T (p.Tyr1430Phe) c.4280A>T (p.Tyr1427Phe) c.4175A>T (p.Tyr1392Phe) c.4367A>T (p.Tyr1456Phe) c.*1037A>T (n.*1037A>T) c.4379A>T (p.Tyr1460Phe) c.4553A>T (p.Tyr1518Phe) c.*2527A>T (n.*2527A>T) c.4220A>T (p.Tyr1407Phe) c.635A>T (p.Tyr212Phe) c.4277A>T (p.Tyr1426Phe) c.4094A>T (p.Tyr1365Phe) n.6082A>T c.*2538A>T (n.*2538A>T) c.588A>T c.4142A>T (p.Tyr1381Phe) c.552A>T c.3710A>T (p.Tyr1237Phe) c.4106A>T (p.Tyr1369Phe) c.2315A>T (p.Tyr772Phe) c.4757A>T (p.Tyr1586Phe) c.4631A>T (p.Tyr1544Phe) c.4574A>T (p.Tyr1525Phe) c.4301A>T (p.Tyr1434Phe) c.4688A>T (p.Tyr1563Phe) c.4622A>T (p.Tyr1541Phe) c.4562A>T (p.Tyr1521Phe) c.4448A>T (p.Tyr1483Phe) c.4427A>T (p.Tyr1476Phe) c.4292A>T (p.Tyr1431Phe) c.4232A>T (p.Tyr1411Phe) c.4166A>T (p.Tyr1389Phe) c.4163A>T (p.Tyr1388Phe) c.4154A>T (p.Tyr1385Phe) c.4097A>T (p.Tyr1366Phe) c.3980A>T (p.Tyr1327Phe) | |
3 | g.77644864T>A | CA353533812 | ROBO2 | c.4290T>A (p.Tyr1430Ter) c.4281T>A (p.Tyr1427Ter) c.4176T>A (p.Tyr1392Ter) c.4368T>A (p.Tyr1456Ter) c.*1038T>A (n.*1038T>A) c.4380T>A (p.Tyr1460Ter) c.4554T>A (p.Tyr1518Ter) c.*2528T>A (n.*2528T>A) c.4221T>A (p.Tyr1407Ter) c.636T>A (p.Tyr212Ter) c.4278T>A (p.Tyr1426Ter) c.4095T>A (p.Tyr1365Ter) n.6083T>A c.*2539T>A (n.*2539T>A) c.589T>A c.4143T>A (p.Tyr1381Ter) c.553T>A c.3711T>A (p.Tyr1237Ter) c.4107T>A (p.Tyr1369Ter) c.2316T>A (p.Tyr772Ter) c.4758T>A (p.Tyr1586Ter) c.4632T>A (p.Tyr1544Ter) c.4575T>A (p.Tyr1525Ter) c.4302T>A (p.Tyr1434Ter) c.4689T>A (p.Tyr1563Ter) c.4623T>A (p.Tyr1541Ter) c.4563T>A (p.Tyr1521Ter) c.4449T>A (p.Tyr1483Ter) c.4428T>A (p.Tyr1476Ter) c.4293T>A (p.Tyr1431Ter) c.4233T>A (p.Tyr1411Ter) c.4167T>A (p.Tyr1389Ter) c.4164T>A (p.Tyr1388Ter) c.4155T>A (p.Tyr1385Ter) c.4098T>A (p.Tyr1366Ter) c.3981T>A (p.Tyr1327Ter) | |
3 | g.77644864T>C | CA2497845 | ROBO2 | c.4290T>C (p.Tyr1430=) c.4281T>C (p.Tyr1427=) c.4176T>C (p.Tyr1392=) c.4368T>C (p.Tyr1456=) c.*1038T>C (n.*1038T>C) c.4380T>C (p.Tyr1460=) c.4554T>C (p.Tyr1518=) c.*2528T>C (n.*2528T>C) c.4221T>C (p.Tyr1407=) c.636T>C (p.Tyr212=) c.4278T>C (p.Tyr1426=) c.4095T>C (p.Tyr1365=) n.6083T>C c.*2539T>C (n.*2539T>C) c.589T>C c.4143T>C (p.Tyr1381=) c.553T>C c.3711T>C (p.Tyr1237=) c.4107T>C (p.Tyr1369=) c.2316T>C (p.Tyr772=) c.4758T>C (p.Tyr1586=) c.4632T>C (p.Tyr1544=) c.4575T>C (p.Tyr1525=) c.4302T>C (p.Tyr1434=) c.4689T>C (p.Tyr1563=) c.4623T>C (p.Tyr1541=) c.4563T>C (p.Tyr1521=) c.4449T>C (p.Tyr1483=) c.4428T>C (p.Tyr1476=) c.4293T>C (p.Tyr1431=) c.4233T>C (p.Tyr1411=) c.4167T>C (p.Tyr1389=) c.4164T>C (p.Tyr1388=) c.4155T>C (p.Tyr1385=) c.4098T>C (p.Tyr1366=) c.3981T>C (p.Tyr1327=) | dbSNP ExAC gnomAD v2 |
3 | g.77644864T>G | CA353533815 | ROBO2 | c.4290T>G (p.Tyr1430Ter) c.4281T>G (p.Tyr1427Ter) c.4176T>G (p.Tyr1392Ter) c.4368T>G (p.Tyr1456Ter) c.*1038T>G (n.*1038T>G) c.4380T>G (p.Tyr1460Ter) c.4554T>G (p.Tyr1518Ter) c.*2528T>G (n.*2528T>G) c.4221T>G (p.Tyr1407Ter) c.636T>G (p.Tyr212Ter) c.4278T>G (p.Tyr1426Ter) c.4095T>G (p.Tyr1365Ter) n.6083T>G c.*2539T>G (n.*2539T>G) c.589T>G c.4143T>G (p.Tyr1381Ter) c.553T>G c.3711T>G (p.Tyr1237Ter) c.4107T>G (p.Tyr1369Ter) c.2316T>G (p.Tyr772Ter) c.4758T>G (p.Tyr1586Ter) c.4632T>G (p.Tyr1544Ter) c.4575T>G (p.Tyr1525Ter) c.4302T>G (p.Tyr1434Ter) c.4689T>G (p.Tyr1563Ter) c.4623T>G (p.Tyr1541Ter) c.4563T>G (p.Tyr1521Ter) c.4449T>G (p.Tyr1483Ter) c.4428T>G (p.Tyr1476Ter) c.4293T>G (p.Tyr1431Ter) c.4233T>G (p.Tyr1411Ter) c.4167T>G (p.Tyr1389Ter) c.4164T>G (p.Tyr1388Ter) c.4155T>G (p.Tyr1385Ter) c.4098T>G (p.Tyr1366Ter) c.3981T>G (p.Tyr1327Ter) | |
3 | g.77644864T= | CA1376777980 | ROBO2 | c.4290T= (p.Tyr1430=) c.4281T= (p.Tyr1427=) c.4176T= (p.Tyr1392=) c.4368T= (p.Tyr1456=) c.*1038T= (n.*1038T=) c.4380T= (p.Tyr1460=) c.4554T= (p.Tyr1518=) c.*2528T= (n.*2528T=) c.4221T= (p.Tyr1407=) c.636T= (p.Tyr212=) c.4278T= (p.Tyr1426=) c.4095T= (p.Tyr1365=) n.6083T= c.*2539T= (n.*2539T=) c.589T= c.4143T= (p.Tyr1381=) c.553T= c.3711T= (p.Tyr1237=) c.4107T= (p.Tyr1369=) c.2316T= (p.Tyr772=) c.4758T= (p.Tyr1586=) c.4632T= (p.Tyr1544=) c.4575T= (p.Tyr1525=) c.4302T= (p.Tyr1434=) c.4689T= (p.Tyr1563=) c.4623T= (p.Tyr1541=) c.4563T= (p.Tyr1521=) c.4449T= (p.Tyr1483=) c.4428T= (p.Tyr1476=) c.4293T= (p.Tyr1431=) c.4233T= (p.Tyr1411=) c.4167T= (p.Tyr1389=) c.4164T= (p.Tyr1388=) c.4155T= (p.Tyr1385=) c.4098T= (p.Tyr1366=) c.3981T= (p.Tyr1327=) | |
3 | g.77644865A= | CA1376777981 | ROBO2 | c.4291A= (p.Met1431=) c.4282A= (p.Met1428=) c.4177A= (p.Met1393=) c.4369A= (p.Met1457=) c.*1039A= (n.*1039A=) c.4381A= (p.Met1461=) c.4555A= (p.Met1519=) c.*2529A= (n.*2529A=) c.4222A= (p.Met1408=) c.637A= (p.Met213=) c.4279A= (p.Met1427=) c.4096A= (p.Met1366=) n.6084A= c.*2540A= (n.*2540A=) c.590A= c.4144A= (p.Met1382=) c.554A= c.3712A= (p.Met1238=) c.4108A= (p.Met1370=) c.2317A= (p.Met773=) c.4759A= (p.Met1587=) c.4633A= (p.Met1545=) c.4576A= (p.Met1526=) c.4303A= (p.Met1435=) c.4690A= (p.Met1564=) c.4624A= (p.Met1542=) c.4564A= (p.Met1522=) c.4450A= (p.Met1484=) c.4429A= (p.Met1477=) c.4294A= (p.Met1432=) c.4234A= (p.Met1412=) c.4168A= (p.Met1390=) c.4165A= (p.Met1389=) c.4156A= (p.Met1386=) c.4099A= (p.Met1367=) c.3982A= (p.Met1328=) | |
3 | g.77644865A>C | CA353533816 | ROBO2 | c.4291A>C (p.Met1431Leu) c.4282A>C (p.Met1428Leu) c.4177A>C (p.Met1393Leu) c.4369A>C (p.Met1457Leu) c.*1039A>C (n.*1039A>C) c.4381A>C (p.Met1461Leu) c.4555A>C (p.Met1519Leu) c.*2529A>C (n.*2529A>C) c.4222A>C (p.Met1408Leu) c.637A>C (p.Met213Leu) c.4279A>C (p.Met1427Leu) c.4096A>C (p.Met1366Leu) n.6084A>C c.*2540A>C (n.*2540A>C) c.590A>C c.4144A>C (p.Met1382Leu) c.554A>C c.3712A>C (p.Met1238Leu) c.4108A>C (p.Met1370Leu) c.2317A>C (p.Met773Leu) c.4759A>C (p.Met1587Leu) c.4633A>C (p.Met1545Leu) c.4576A>C (p.Met1526Leu) c.4303A>C (p.Met1435Leu) c.4690A>C (p.Met1564Leu) c.4624A>C (p.Met1542Leu) c.4564A>C (p.Met1522Leu) c.4450A>C (p.Met1484Leu) c.4429A>C (p.Met1477Leu) c.4294A>C (p.Met1432Leu) c.4234A>C (p.Met1412Leu) c.4168A>C (p.Met1390Leu) c.4165A>C (p.Met1389Leu) c.4156A>C (p.Met1386Leu) c.4099A>C (p.Met1367Leu) c.3982A>C (p.Met1328Leu) | |
3 | g.77644865A>G | CA353533817 | ROBO2 | c.4291A>G (p.Met1431Val) c.4282A>G (p.Met1428Val) c.4177A>G (p.Met1393Val) c.4369A>G (p.Met1457Val) c.*1039A>G (n.*1039A>G) c.4381A>G (p.Met1461Val) c.4555A>G (p.Met1519Val) c.*2529A>G (n.*2529A>G) c.4222A>G (p.Met1408Val) c.637A>G (p.Met213Val) c.4279A>G (p.Met1427Val) c.4096A>G (p.Met1366Val) n.6084A>G c.*2540A>G (n.*2540A>G) c.590A>G c.4144A>G (p.Met1382Val) c.554A>G c.3712A>G (p.Met1238Val) c.4108A>G (p.Met1370Val) c.2317A>G (p.Met773Val) c.4759A>G (p.Met1587Val) c.4633A>G (p.Met1545Val) c.4576A>G (p.Met1526Val) c.4303A>G (p.Met1435Val) c.4690A>G (p.Met1564Val) c.4624A>G (p.Met1542Val) c.4564A>G (p.Met1522Val) c.4450A>G (p.Met1484Val) c.4429A>G (p.Met1477Val) c.4294A>G (p.Met1432Val) c.4234A>G (p.Met1412Val) c.4168A>G (p.Met1390Val) c.4165A>G (p.Met1389Val) c.4156A>G (p.Met1386Val) c.4099A>G (p.Met1367Val) c.3982A>G (p.Met1328Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644865A>T | CA353533818 | ROBO2 | c.4291A>T (p.Met1431Leu) c.4282A>T (p.Met1428Leu) c.4177A>T (p.Met1393Leu) c.4369A>T (p.Met1457Leu) c.*1039A>T (n.*1039A>T) c.4381A>T (p.Met1461Leu) c.4555A>T (p.Met1519Leu) c.*2529A>T (n.*2529A>T) c.4222A>T (p.Met1408Leu) c.637A>T (p.Met213Leu) c.4279A>T (p.Met1427Leu) c.4096A>T (p.Met1366Leu) n.6084A>T c.*2540A>T (n.*2540A>T) c.590A>T c.4144A>T (p.Met1382Leu) c.554A>T c.3712A>T (p.Met1238Leu) c.4108A>T (p.Met1370Leu) c.2317A>T (p.Met773Leu) c.4759A>T (p.Met1587Leu) c.4633A>T (p.Met1545Leu) c.4576A>T (p.Met1526Leu) c.4303A>T (p.Met1435Leu) c.4690A>T (p.Met1564Leu) c.4624A>T (p.Met1542Leu) c.4564A>T (p.Met1522Leu) c.4450A>T (p.Met1484Leu) c.4429A>T (p.Met1477Leu) c.4294A>T (p.Met1432Leu) c.4234A>T (p.Met1412Leu) c.4168A>T (p.Met1390Leu) c.4165A>T (p.Met1389Leu) c.4156A>T (p.Met1386Leu) c.4099A>T (p.Met1367Leu) c.3982A>T (p.Met1328Leu) | |
3 | g.77644866T>A | CA353533820 | ROBO2 | c.4292T>A (p.Met1431Lys) c.4283T>A (p.Met1428Lys) c.4178T>A (p.Met1393Lys) c.4370T>A (p.Met1457Lys) c.*1040T>A (n.*1040T>A) c.4382T>A (p.Met1461Lys) c.4556T>A (p.Met1519Lys) c.*2530T>A (n.*2530T>A) c.4223T>A (p.Met1408Lys) c.638T>A (p.Met213Lys) c.4280T>A (p.Met1427Lys) c.4097T>A (p.Met1366Lys) n.6085T>A c.*2541T>A (n.*2541T>A) c.591T>A c.4145T>A (p.Met1382Lys) c.555T>A c.3713T>A (p.Met1238Lys) c.4109T>A (p.Met1370Lys) c.2318T>A (p.Met773Lys) c.4760T>A (p.Met1587Lys) c.4634T>A (p.Met1545Lys) c.4577T>A (p.Met1526Lys) c.4304T>A (p.Met1435Lys) c.4691T>A (p.Met1564Lys) c.4625T>A (p.Met1542Lys) c.4565T>A (p.Met1522Lys) c.4451T>A (p.Met1484Lys) c.4430T>A (p.Met1477Lys) c.4295T>A (p.Met1432Lys) c.4235T>A (p.Met1412Lys) c.4169T>A (p.Met1390Lys) c.4166T>A (p.Met1389Lys) c.4157T>A (p.Met1386Lys) c.4100T>A (p.Met1367Lys) c.3983T>A (p.Met1328Lys) | |
3 | g.77644866T>C | CA353533822 | ROBO2 | c.4292T>C (p.Met1431Thr) c.4283T>C (p.Met1428Thr) c.4178T>C (p.Met1393Thr) c.4370T>C (p.Met1457Thr) c.*1040T>C (n.*1040T>C) c.4382T>C (p.Met1461Thr) c.4556T>C (p.Met1519Thr) c.*2530T>C (n.*2530T>C) c.4223T>C (p.Met1408Thr) c.638T>C (p.Met213Thr) c.4280T>C (p.Met1427Thr) c.4097T>C (p.Met1366Thr) n.6085T>C c.*2541T>C (n.*2541T>C) c.591T>C c.4145T>C (p.Met1382Thr) c.555T>C c.3713T>C (p.Met1238Thr) c.4109T>C (p.Met1370Thr) c.2318T>C (p.Met773Thr) c.4760T>C (p.Met1587Thr) c.4634T>C (p.Met1545Thr) c.4577T>C (p.Met1526Thr) c.4304T>C (p.Met1435Thr) c.4691T>C (p.Met1564Thr) c.4625T>C (p.Met1542Thr) c.4565T>C (p.Met1522Thr) c.4451T>C (p.Met1484Thr) c.4430T>C (p.Met1477Thr) c.4295T>C (p.Met1432Thr) c.4235T>C (p.Met1412Thr) c.4169T>C (p.Met1390Thr) c.4166T>C (p.Met1389Thr) c.4157T>C (p.Met1386Thr) c.4100T>C (p.Met1367Thr) c.3983T>C (p.Met1328Thr) | |
3 | g.77644866T>G | CA353533824 | ROBO2 | c.4292T>G (p.Met1431Arg) c.4283T>G (p.Met1428Arg) c.4178T>G (p.Met1393Arg) c.4370T>G (p.Met1457Arg) c.*1040T>G (n.*1040T>G) c.4382T>G (p.Met1461Arg) c.4556T>G (p.Met1519Arg) c.*2530T>G (n.*2530T>G) c.4223T>G (p.Met1408Arg) c.638T>G (p.Met213Arg) c.4280T>G (p.Met1427Arg) c.4097T>G (p.Met1366Arg) n.6085T>G c.*2541T>G (n.*2541T>G) c.591T>G c.4145T>G (p.Met1382Arg) c.555T>G c.3713T>G (p.Met1238Arg) c.4109T>G (p.Met1370Arg) c.2318T>G (p.Met773Arg) c.4760T>G (p.Met1587Arg) c.4634T>G (p.Met1545Arg) c.4577T>G (p.Met1526Arg) c.4304T>G (p.Met1435Arg) c.4691T>G (p.Met1564Arg) c.4625T>G (p.Met1542Arg) c.4565T>G (p.Met1522Arg) c.4451T>G (p.Met1484Arg) c.4430T>G (p.Met1477Arg) c.4295T>G (p.Met1432Arg) c.4235T>G (p.Met1412Arg) c.4169T>G (p.Met1390Arg) c.4166T>G (p.Met1389Arg) c.4157T>G (p.Met1386Arg) c.4100T>G (p.Met1367Arg) c.3983T>G (p.Met1328Arg) | |
3 | g.77644867G>A | CA353533826 | ROBO2 | c.4293G>A (p.Met1431Ile) c.4284G>A (p.Met1428Ile) c.4179G>A (p.Met1393Ile) c.4371G>A (p.Met1457Ile) c.*1041G>A (n.*1041G>A) c.4383G>A (p.Met1461Ile) c.4557G>A (p.Met1519Ile) c.*2531G>A (n.*2531G>A) c.4224G>A (p.Met1408Ile) c.639G>A (p.Met213Ile) c.4281G>A (p.Met1427Ile) c.4098G>A (p.Met1366Ile) n.6086G>A c.*2542G>A (n.*2542G>A) c.592G>A c.4146G>A (p.Met1382Ile) c.556G>A c.3714G>A (p.Met1238Ile) c.4110G>A (p.Met1370Ile) c.2319G>A (p.Met773Ile) c.4761G>A (p.Met1587Ile) c.4635G>A (p.Met1545Ile) c.4578G>A (p.Met1526Ile) c.4305G>A (p.Met1435Ile) c.4692G>A (p.Met1564Ile) c.4626G>A (p.Met1542Ile) c.4566G>A (p.Met1522Ile) c.4452G>A (p.Met1484Ile) c.4431G>A (p.Met1477Ile) c.4296G>A (p.Met1432Ile) c.4236G>A (p.Met1412Ile) c.4170G>A (p.Met1390Ile) c.4167G>A (p.Met1389Ile) c.4158G>A (p.Met1386Ile) c.4101G>A (p.Met1367Ile) c.3984G>A (p.Met1328Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644867G>C | CA353533828 | ROBO2 | c.4293G>C (p.Met1431Ile) c.4284G>C (p.Met1428Ile) c.4179G>C (p.Met1393Ile) c.4371G>C (p.Met1457Ile) c.*1041G>C (n.*1041G>C) c.4383G>C (p.Met1461Ile) c.4557G>C (p.Met1519Ile) c.*2531G>C (n.*2531G>C) c.4224G>C (p.Met1408Ile) c.639G>C (p.Met213Ile) c.4281G>C (p.Met1427Ile) c.4098G>C (p.Met1366Ile) n.6086G>C c.*2542G>C (n.*2542G>C) c.592G>C c.4146G>C (p.Met1382Ile) c.556G>C c.3714G>C (p.Met1238Ile) c.4110G>C (p.Met1370Ile) c.2319G>C (p.Met773Ile) c.4761G>C (p.Met1587Ile) c.4635G>C (p.Met1545Ile) c.4578G>C (p.Met1526Ile) c.4305G>C (p.Met1435Ile) c.4692G>C (p.Met1564Ile) c.4626G>C (p.Met1542Ile) c.4566G>C (p.Met1522Ile) c.4452G>C (p.Met1484Ile) c.4431G>C (p.Met1477Ile) c.4296G>C (p.Met1432Ile) c.4236G>C (p.Met1412Ile) c.4170G>C (p.Met1390Ile) c.4167G>C (p.Met1389Ile) c.4158G>C (p.Met1386Ile) c.4101G>C (p.Met1367Ile) c.3984G>C (p.Met1328Ile) | |
3 | g.77644867G= | CA1376777982 | ROBO2 | c.4293G= (p.Met1431=) c.4284G= (p.Met1428=) c.4179G= (p.Met1393=) c.4371G= (p.Met1457=) c.*1041G= (n.*1041G=) c.4383G= (p.Met1461=) c.4557G= (p.Met1519=) c.*2531G= (n.*2531G=) c.4224G= (p.Met1408=) c.639G= (p.Met213=) c.4281G= (p.Met1427=) c.4098G= (p.Met1366=) n.6086G= c.*2542G= (n.*2542G=) c.592G= c.4146G= (p.Met1382=) c.556G= c.3714G= (p.Met1238=) c.4110G= (p.Met1370=) c.2319G= (p.Met773=) c.4761G= (p.Met1587=) c.4635G= (p.Met1545=) c.4578G= (p.Met1526=) c.4305G= (p.Met1435=) c.4692G= (p.Met1564=) c.4626G= (p.Met1542=) c.4566G= (p.Met1522=) c.4452G= (p.Met1484=) c.4431G= (p.Met1477=) c.4296G= (p.Met1432=) c.4236G= (p.Met1412=) c.4170G= (p.Met1390=) c.4167G= (p.Met1389=) c.4158G= (p.Met1386=) c.4101G= (p.Met1367=) c.3984G= (p.Met1328=) | |
3 | g.77644867G>T | CA353533830 | ROBO2 | c.4293G>T (p.Met1431Ile) c.4284G>T (p.Met1428Ile) c.4179G>T (p.Met1393Ile) c.4371G>T (p.Met1457Ile) c.*1041G>T (n.*1041G>T) c.4383G>T (p.Met1461Ile) c.4557G>T (p.Met1519Ile) c.*2531G>T (n.*2531G>T) c.4224G>T (p.Met1408Ile) c.639G>T (p.Met213Ile) c.4281G>T (p.Met1427Ile) c.4098G>T (p.Met1366Ile) n.6086G>T c.*2542G>T (n.*2542G>T) c.592G>T c.4146G>T (p.Met1382Ile) c.556G>T c.3714G>T (p.Met1238Ile) c.4110G>T (p.Met1370Ile) c.2319G>T (p.Met773Ile) c.4761G>T (p.Met1587Ile) c.4635G>T (p.Met1545Ile) c.4578G>T (p.Met1526Ile) c.4305G>T (p.Met1435Ile) c.4692G>T (p.Met1564Ile) c.4626G>T (p.Met1542Ile) c.4566G>T (p.Met1522Ile) c.4452G>T (p.Met1484Ile) c.4431G>T (p.Met1477Ile) c.4296G>T (p.Met1432Ile) c.4236G>T (p.Met1412Ile) c.4170G>T (p.Met1390Ile) c.4167G>T (p.Met1389Ile) c.4158G>T (p.Met1386Ile) c.4101G>T (p.Met1367Ile) c.3984G>T (p.Met1328Ile) | |
3 | g.77644868G>A | CA353533834 | ROBO2 | c.4294G>A (p.Gly1432Ser) c.4285G>A (p.Gly1429Ser) c.4180G>A (p.Gly1394Ser) c.4372G>A (p.Gly1458Ser) c.*1042G>A (n.*1042G>A) c.4384G>A (p.Gly1462Ser) c.4558G>A (p.Gly1520Ser) c.*2532G>A (n.*2532G>A) c.4225G>A (p.Gly1409Ser) c.640G>A (p.Gly214Ser) c.4282G>A (p.Gly1428Ser) c.4099G>A (p.Gly1367Ser) n.6087G>A c.*2543G>A (n.*2543G>A) c.593G>A c.4147G>A (p.Gly1383Ser) c.557G>A c.3715G>A (p.Gly1239Ser) c.4111G>A (p.Gly1371Ser) c.2320G>A (p.Gly774Ser) c.4762G>A (p.Gly1588Ser) c.4636G>A (p.Gly1546Ser) c.4579G>A (p.Gly1527Ser) c.4306G>A (p.Gly1436Ser) c.4693G>A (p.Gly1565Ser) c.4627G>A (p.Gly1543Ser) c.4567G>A (p.Gly1523Ser) c.4453G>A (p.Gly1485Ser) c.4432G>A (p.Gly1478Ser) c.4297G>A (p.Gly1433Ser) c.4237G>A (p.Gly1413Ser) c.4171G>A (p.Gly1391Ser) c.4168G>A (p.Gly1390Ser) c.4159G>A (p.Gly1387Ser) c.4102G>A (p.Gly1368Ser) c.3985G>A (p.Gly1329Ser) | |
3 | g.77644868G>C | CA353533836 | ROBO2 | c.4294G>C (p.Gly1432Arg) c.4285G>C (p.Gly1429Arg) c.4180G>C (p.Gly1394Arg) c.4372G>C (p.Gly1458Arg) c.*1042G>C (n.*1042G>C) c.4384G>C (p.Gly1462Arg) c.4558G>C (p.Gly1520Arg) c.*2532G>C (n.*2532G>C) c.4225G>C (p.Gly1409Arg) c.640G>C (p.Gly214Arg) c.4282G>C (p.Gly1428Arg) c.4099G>C (p.Gly1367Arg) n.6087G>C c.*2543G>C (n.*2543G>C) c.593G>C c.4147G>C (p.Gly1383Arg) c.557G>C c.3715G>C (p.Gly1239Arg) c.4111G>C (p.Gly1371Arg) c.2320G>C (p.Gly774Arg) c.4762G>C (p.Gly1588Arg) c.4636G>C (p.Gly1546Arg) c.4579G>C (p.Gly1527Arg) c.4306G>C (p.Gly1436Arg) c.4693G>C (p.Gly1565Arg) c.4627G>C (p.Gly1543Arg) c.4567G>C (p.Gly1523Arg) c.4453G>C (p.Gly1485Arg) c.4432G>C (p.Gly1478Arg) c.4297G>C (p.Gly1433Arg) c.4237G>C (p.Gly1413Arg) c.4171G>C (p.Gly1391Arg) c.4168G>C (p.Gly1390Arg) c.4159G>C (p.Gly1387Arg) c.4102G>C (p.Gly1368Arg) c.3985G>C (p.Gly1329Arg) | |
3 | g.77644868G>T | CA353533832 | ROBO2 | c.4294G>T (p.Gly1432Cys) c.4285G>T (p.Gly1429Cys) c.4180G>T (p.Gly1394Cys) c.4372G>T (p.Gly1458Cys) c.*1042G>T (n.*1042G>T) c.4384G>T (p.Gly1462Cys) c.4558G>T (p.Gly1520Cys) c.*2532G>T (n.*2532G>T) c.4225G>T (p.Gly1409Cys) c.640G>T (p.Gly214Cys) c.4282G>T (p.Gly1428Cys) c.4099G>T (p.Gly1367Cys) n.6087G>T c.*2543G>T (n.*2543G>T) c.593G>T c.4147G>T (p.Gly1383Cys) c.557G>T c.3715G>T (p.Gly1239Cys) c.4111G>T (p.Gly1371Cys) c.2320G>T (p.Gly774Cys) c.4762G>T (p.Gly1588Cys) c.4636G>T (p.Gly1546Cys) c.4579G>T (p.Gly1527Cys) c.4306G>T (p.Gly1436Cys) c.4693G>T (p.Gly1565Cys) c.4627G>T (p.Gly1543Cys) c.4567G>T (p.Gly1523Cys) c.4453G>T (p.Gly1485Cys) c.4432G>T (p.Gly1478Cys) c.4297G>T (p.Gly1433Cys) c.4237G>T (p.Gly1413Cys) c.4171G>T (p.Gly1391Cys) c.4168G>T (p.Gly1390Cys) c.4159G>T (p.Gly1387Cys) c.4102G>T (p.Gly1368Cys) c.3985G>T (p.Gly1329Cys) | |
3 | g.77644869G>A | CA353533838 | ROBO2 | c.4295G>A (p.Gly1432Asp) c.4286G>A (p.Gly1429Asp) c.4181G>A (p.Gly1394Asp) c.4373G>A (p.Gly1458Asp) c.*1043G>A (n.*1043G>A) c.4385G>A (p.Gly1462Asp) c.4559G>A (p.Gly1520Asp) c.*2533G>A (n.*2533G>A) c.4226G>A (p.Gly1409Asp) c.641G>A (p.Gly214Asp) c.4283G>A (p.Gly1428Asp) c.4100G>A (p.Gly1367Asp) n.6088G>A c.*2544G>A (n.*2544G>A) c.594G>A c.4148G>A (p.Gly1383Asp) c.558G>A c.3716G>A (p.Gly1239Asp) c.4112G>A (p.Gly1371Asp) c.2321G>A (p.Gly774Asp) c.4763G>A (p.Gly1588Asp) c.4637G>A (p.Gly1546Asp) c.4580G>A (p.Gly1527Asp) c.4307G>A (p.Gly1436Asp) c.4694G>A (p.Gly1565Asp) c.4628G>A (p.Gly1543Asp) c.4568G>A (p.Gly1523Asp) c.4454G>A (p.Gly1485Asp) c.4433G>A (p.Gly1478Asp) c.4298G>A (p.Gly1433Asp) c.4238G>A (p.Gly1413Asp) c.4172G>A (p.Gly1391Asp) c.4169G>A (p.Gly1390Asp) c.4160G>A (p.Gly1387Asp) c.4103G>A (p.Gly1368Asp) c.3986G>A (p.Gly1329Asp) | |
3 | g.77644869G>C | CA353533840 | ROBO2 | c.4295G>C (p.Gly1432Ala) c.4286G>C (p.Gly1429Ala) c.4181G>C (p.Gly1394Ala) c.4373G>C (p.Gly1458Ala) c.*1043G>C (n.*1043G>C) c.4385G>C (p.Gly1462Ala) c.4559G>C (p.Gly1520Ala) c.*2533G>C (n.*2533G>C) c.4226G>C (p.Gly1409Ala) c.641G>C (p.Gly214Ala) c.4283G>C (p.Gly1428Ala) c.4100G>C (p.Gly1367Ala) n.6088G>C c.*2544G>C (n.*2544G>C) c.594G>C c.4148G>C (p.Gly1383Ala) c.558G>C c.3716G>C (p.Gly1239Ala) c.4112G>C (p.Gly1371Ala) c.2321G>C (p.Gly774Ala) c.4763G>C (p.Gly1588Ala) c.4637G>C (p.Gly1546Ala) c.4580G>C (p.Gly1527Ala) c.4307G>C (p.Gly1436Ala) c.4694G>C (p.Gly1565Ala) c.4628G>C (p.Gly1543Ala) c.4568G>C (p.Gly1523Ala) c.4454G>C (p.Gly1485Ala) c.4433G>C (p.Gly1478Ala) c.4298G>C (p.Gly1433Ala) c.4238G>C (p.Gly1413Ala) c.4172G>C (p.Gly1391Ala) c.4169G>C (p.Gly1390Ala) c.4160G>C (p.Gly1387Ala) c.4103G>C (p.Gly1368Ala) c.3986G>C (p.Gly1329Ala) | |
3 | g.77644869G>T | CA353533842 | ROBO2 | c.4295G>T (p.Gly1432Val) c.4286G>T (p.Gly1429Val) c.4181G>T (p.Gly1394Val) c.4373G>T (p.Gly1458Val) c.*1043G>T (n.*1043G>T) c.4385G>T (p.Gly1462Val) c.4559G>T (p.Gly1520Val) c.*2533G>T (n.*2533G>T) c.4226G>T (p.Gly1409Val) c.641G>T (p.Gly214Val) c.4283G>T (p.Gly1428Val) c.4100G>T (p.Gly1367Val) n.6088G>T c.*2544G>T (n.*2544G>T) c.594G>T c.4148G>T (p.Gly1383Val) c.558G>T c.3716G>T (p.Gly1239Val) c.4112G>T (p.Gly1371Val) c.2321G>T (p.Gly774Val) c.4763G>T (p.Gly1588Val) c.4637G>T (p.Gly1546Val) c.4580G>T (p.Gly1527Val) c.4307G>T (p.Gly1436Val) c.4694G>T (p.Gly1565Val) c.4628G>T (p.Gly1543Val) c.4568G>T (p.Gly1523Val) c.4454G>T (p.Gly1485Val) c.4433G>T (p.Gly1478Val) c.4298G>T (p.Gly1433Val) c.4238G>T (p.Gly1413Val) c.4172G>T (p.Gly1391Val) c.4169G>T (p.Gly1390Val) c.4160G>T (p.Gly1387Val) c.4103G>T (p.Gly1368Val) c.3986G>T (p.Gly1329Val) | |
3 | g.77644870C>A | CA2497846 | ROBO2 | c.4296C>A (p.Gly1432=) c.4287C>A (p.Gly1429=) c.4182C>A (p.Gly1394=) c.4374C>A (p.Gly1458=) c.*1044C>A (n.*1044C>A) c.4386C>A (p.Gly1462=) c.4560C>A (p.Gly1520=) c.*2534C>A (n.*2534C>A) c.4227C>A (p.Gly1409=) c.642C>A (p.Gly214=) c.4284C>A (p.Gly1428=) c.4101C>A (p.Gly1367=) n.6089C>A c.*2545C>A (n.*2545C>A) c.595C>A c.4149C>A (p.Gly1383=) c.559C>A c.3717C>A (p.Gly1239=) c.4113C>A (p.Gly1371=) c.2322C>A (p.Gly774=) c.4764C>A (p.Gly1588=) c.4638C>A (p.Gly1546=) c.4581C>A (p.Gly1527=) c.4308C>A (p.Gly1436=) c.4695C>A (p.Gly1565=) c.4629C>A (p.Gly1543=) c.4569C>A (p.Gly1523=) c.4455C>A (p.Gly1485=) c.4434C>A (p.Gly1478=) c.4299C>A (p.Gly1433=) c.4239C>A (p.Gly1413=) c.4173C>A (p.Gly1391=) c.4170C>A (p.Gly1390=) c.4161C>A (p.Gly1387=) c.4104C>A (p.Gly1368=) c.3987C>A (p.Gly1329=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77644870C= | CA1376777983 | ROBO2 | c.4296C= (p.Gly1432=) c.4287C= (p.Gly1429=) c.4182C= (p.Gly1394=) c.4374C= (p.Gly1458=) c.*1044C= (n.*1044C=) c.4386C= (p.Gly1462=) c.4560C= (p.Gly1520=) c.*2534C= (n.*2534C=) c.4227C= (p.Gly1409=) c.642C= (p.Gly214=) c.4284C= (p.Gly1428=) c.4101C= (p.Gly1367=) n.6089C= c.*2545C= (n.*2545C=) c.595C= c.4149C= (p.Gly1383=) c.559C= c.3717C= (p.Gly1239=) c.4113C= (p.Gly1371=) c.2322C= (p.Gly774=) c.4764C= (p.Gly1588=) c.4638C= (p.Gly1546=) c.4581C= (p.Gly1527=) c.4308C= (p.Gly1436=) c.4695C= (p.Gly1565=) c.4629C= (p.Gly1543=) c.4569C= (p.Gly1523=) c.4455C= (p.Gly1485=) c.4434C= (p.Gly1478=) c.4299C= (p.Gly1433=) c.4239C= (p.Gly1413=) c.4173C= (p.Gly1391=) c.4170C= (p.Gly1390=) c.4161C= (p.Gly1387=) c.4104C= (p.Gly1368=) c.3987C= (p.Gly1329=) | |
3 | g.77644870C>G | CA434435366 | ROBO2 | c.4296C>G (p.Gly1432=) c.4287C>G (p.Gly1429=) c.4182C>G (p.Gly1394=) c.4374C>G (p.Gly1458=) c.*1044C>G (n.*1044C>G) c.4386C>G (p.Gly1462=) c.4560C>G (p.Gly1520=) c.*2534C>G (n.*2534C>G) c.4227C>G (p.Gly1409=) c.642C>G (p.Gly214=) c.4284C>G (p.Gly1428=) c.4101C>G (p.Gly1367=) n.6089C>G c.*2545C>G (n.*2545C>G) c.595C>G c.4149C>G (p.Gly1383=) c.559C>G c.3717C>G (p.Gly1239=) c.4113C>G (p.Gly1371=) c.2322C>G (p.Gly774=) c.4764C>G (p.Gly1588=) c.4638C>G (p.Gly1546=) c.4581C>G (p.Gly1527=) c.4308C>G (p.Gly1436=) c.4695C>G (p.Gly1565=) c.4629C>G (p.Gly1543=) c.4569C>G (p.Gly1523=) c.4455C>G (p.Gly1485=) c.4434C>G (p.Gly1478=) c.4299C>G (p.Gly1433=) c.4239C>G (p.Gly1413=) c.4173C>G (p.Gly1391=) c.4170C>G (p.Gly1390=) c.4161C>G (p.Gly1387=) c.4104C>G (p.Gly1368=) c.3987C>G (p.Gly1329=) | |
3 | g.77644870C>T | CA434435367 | ROBO2 | c.4296C>T (p.Gly1432=) c.4287C>T (p.Gly1429=) c.4182C>T (p.Gly1394=) c.4374C>T (p.Gly1458=) c.*1044C>T (n.*1044C>T) c.4386C>T (p.Gly1462=) c.4560C>T (p.Gly1520=) c.*2534C>T (n.*2534C>T) c.4227C>T (p.Gly1409=) c.642C>T (p.Gly214=) c.4284C>T (p.Gly1428=) c.4101C>T (p.Gly1367=) n.6089C>T c.*2545C>T (n.*2545C>T) c.595C>T c.4149C>T (p.Gly1383=) c.559C>T c.3717C>T (p.Gly1239=) c.4113C>T (p.Gly1371=) c.2322C>T (p.Gly774=) c.4764C>T (p.Gly1588=) c.4638C>T (p.Gly1546=) c.4581C>T (p.Gly1527=) c.4308C>T (p.Gly1436=) c.4695C>T (p.Gly1565=) c.4629C>T (p.Gly1543=) c.4569C>T (p.Gly1523=) c.4455C>T (p.Gly1485=) c.4434C>T (p.Gly1478=) c.4299C>T (p.Gly1433=) c.4239C>T (p.Gly1413=) c.4173C>T (p.Gly1391=) c.4170C>T (p.Gly1390=) c.4161C>T (p.Gly1387=) c.4104C>T (p.Gly1368=) c.3987C>T (p.Gly1329=) | |
3 | g.77644871T>A | CA353533845 | ROBO2 | c.4297T>A (p.Ser1433Thr) c.4288T>A (p.Ser1430Thr) c.4183T>A (p.Ser1395Thr) c.4375T>A (p.Ser1459Thr) c.*1045T>A (n.*1045T>A) c.4387T>A (p.Ser1463Thr) c.4561T>A (p.Ser1521Thr) c.*2535T>A (n.*2535T>A) c.4228T>A (p.Ser1410Thr) c.643T>A (p.Ser215Thr) c.4285T>A (p.Ser1429Thr) c.4102T>A (p.Ser1368Thr) n.6090T>A c.*2546T>A (n.*2546T>A) c.596T>A c.4150T>A (p.Ser1384Thr) c.560T>A c.3718T>A (p.Ser1240Thr) c.4114T>A (p.Ser1372Thr) c.2323T>A (p.Ser775Thr) c.4765T>A (p.Ser1589Thr) c.4639T>A (p.Ser1547Thr) c.4582T>A (p.Ser1528Thr) c.4309T>A (p.Ser1437Thr) c.4696T>A (p.Ser1566Thr) c.4630T>A (p.Ser1544Thr) c.4570T>A (p.Ser1524Thr) c.4456T>A (p.Ser1486Thr) c.4435T>A (p.Ser1479Thr) c.4300T>A (p.Ser1434Thr) c.4240T>A (p.Ser1414Thr) c.4174T>A (p.Ser1392Thr) c.4171T>A (p.Ser1391Thr) c.4162T>A (p.Ser1388Thr) c.4105T>A (p.Ser1369Thr) c.3988T>A (p.Ser1330Thr) | |
3 | g.77644871T>C | CA353533846 | ROBO2 | c.4297T>C (p.Ser1433Pro) c.4288T>C (p.Ser1430Pro) c.4183T>C (p.Ser1395Pro) c.4375T>C (p.Ser1459Pro) c.*1045T>C (n.*1045T>C) c.4387T>C (p.Ser1463Pro) c.4561T>C (p.Ser1521Pro) c.*2535T>C (n.*2535T>C) c.4228T>C (p.Ser1410Pro) c.643T>C (p.Ser215Pro) c.4285T>C (p.Ser1429Pro) c.4102T>C (p.Ser1368Pro) n.6090T>C c.*2546T>C (n.*2546T>C) c.596T>C c.4150T>C (p.Ser1384Pro) c.560T>C c.3718T>C (p.Ser1240Pro) c.4114T>C (p.Ser1372Pro) c.2323T>C (p.Ser775Pro) c.4765T>C (p.Ser1589Pro) c.4639T>C (p.Ser1547Pro) c.4582T>C (p.Ser1528Pro) c.4309T>C (p.Ser1437Pro) c.4696T>C (p.Ser1566Pro) c.4630T>C (p.Ser1544Pro) c.4570T>C (p.Ser1524Pro) c.4456T>C (p.Ser1486Pro) c.4435T>C (p.Ser1479Pro) c.4300T>C (p.Ser1434Pro) c.4240T>C (p.Ser1414Pro) c.4174T>C (p.Ser1392Pro) c.4171T>C (p.Ser1391Pro) c.4162T>C (p.Ser1388Pro) c.4105T>C (p.Ser1369Pro) c.3988T>C (p.Ser1330Pro) | |
3 | g.77644871T>G | CA353533848 | ROBO2 | c.4297T>G (p.Ser1433Ala) c.4288T>G (p.Ser1430Ala) c.4183T>G (p.Ser1395Ala) c.4375T>G (p.Ser1459Ala) c.*1045T>G (n.*1045T>G) c.4387T>G (p.Ser1463Ala) c.4561T>G (p.Ser1521Ala) c.*2535T>G (n.*2535T>G) c.4228T>G (p.Ser1410Ala) c.643T>G (p.Ser215Ala) c.4285T>G (p.Ser1429Ala) c.4102T>G (p.Ser1368Ala) n.6090T>G c.*2546T>G (n.*2546T>G) c.596T>G c.4150T>G (p.Ser1384Ala) c.560T>G c.3718T>G (p.Ser1240Ala) c.4114T>G (p.Ser1372Ala) c.2323T>G (p.Ser775Ala) c.4765T>G (p.Ser1589Ala) c.4639T>G (p.Ser1547Ala) c.4582T>G (p.Ser1528Ala) c.4309T>G (p.Ser1437Ala) c.4696T>G (p.Ser1566Ala) c.4630T>G (p.Ser1544Ala) c.4570T>G (p.Ser1524Ala) c.4456T>G (p.Ser1486Ala) c.4435T>G (p.Ser1479Ala) c.4300T>G (p.Ser1434Ala) c.4240T>G (p.Ser1414Ala) c.4174T>G (p.Ser1392Ala) c.4171T>G (p.Ser1391Ala) c.4162T>G (p.Ser1388Ala) c.4105T>G (p.Ser1369Ala) c.3988T>G (p.Ser1330Ala) | |
3 | g.77644872C>A | CA353533851 | ROBO2 | c.4298C>A (p.Ser1433Tyr) c.4289C>A (p.Ser1430Tyr) c.4184C>A (p.Ser1395Tyr) c.4376C>A (p.Ser1459Tyr) c.*1046C>A (n.*1046C>A) c.4388C>A (p.Ser1463Tyr) c.4562C>A (p.Ser1521Tyr) c.*2536C>A (n.*2536C>A) c.4229C>A (p.Ser1410Tyr) c.644C>A (p.Ser215Tyr) c.4286C>A (p.Ser1429Tyr) c.4103C>A (p.Ser1368Tyr) n.6091C>A c.*2547C>A (n.*2547C>A) c.597C>A c.4151C>A (p.Ser1384Tyr) c.561C>A c.3719C>A (p.Ser1240Tyr) c.4115C>A (p.Ser1372Tyr) c.2324C>A (p.Ser775Tyr) c.4766C>A (p.Ser1589Tyr) c.4640C>A (p.Ser1547Tyr) c.4583C>A (p.Ser1528Tyr) c.4310C>A (p.Ser1437Tyr) c.4697C>A (p.Ser1566Tyr) c.4631C>A (p.Ser1544Tyr) c.4571C>A (p.Ser1524Tyr) c.4457C>A (p.Ser1486Tyr) c.4436C>A (p.Ser1479Tyr) c.4301C>A (p.Ser1434Tyr) c.4241C>A (p.Ser1414Tyr) c.4175C>A (p.Ser1392Tyr) c.4172C>A (p.Ser1391Tyr) c.4163C>A (p.Ser1388Tyr) c.4106C>A (p.Ser1369Tyr) c.3989C>A (p.Ser1330Tyr) | |
3 | g.77644872C>G | CA353533852 | ROBO2 | c.4298C>G (p.Ser1433Cys) c.4289C>G (p.Ser1430Cys) c.4184C>G (p.Ser1395Cys) c.4376C>G (p.Ser1459Cys) c.*1046C>G (n.*1046C>G) c.4388C>G (p.Ser1463Cys) c.4562C>G (p.Ser1521Cys) c.*2536C>G (n.*2536C>G) c.4229C>G (p.Ser1410Cys) c.644C>G (p.Ser215Cys) c.4286C>G (p.Ser1429Cys) c.4103C>G (p.Ser1368Cys) n.6091C>G c.*2547C>G (n.*2547C>G) c.597C>G c.4151C>G (p.Ser1384Cys) c.561C>G c.3719C>G (p.Ser1240Cys) c.4115C>G (p.Ser1372Cys) c.2324C>G (p.Ser775Cys) c.4766C>G (p.Ser1589Cys) c.4640C>G (p.Ser1547Cys) c.4583C>G (p.Ser1528Cys) c.4310C>G (p.Ser1437Cys) c.4697C>G (p.Ser1566Cys) c.4631C>G (p.Ser1544Cys) c.4571C>G (p.Ser1524Cys) c.4457C>G (p.Ser1486Cys) c.4436C>G (p.Ser1479Cys) c.4301C>G (p.Ser1434Cys) c.4241C>G (p.Ser1414Cys) c.4175C>G (p.Ser1392Cys) c.4172C>G (p.Ser1391Cys) c.4163C>G (p.Ser1388Cys) c.4106C>G (p.Ser1369Cys) c.3989C>G (p.Ser1330Cys) | |
3 | g.77644872C>T | CA353533854 | ROBO2 | c.4298C>T (p.Ser1433Phe) c.4289C>T (p.Ser1430Phe) c.4184C>T (p.Ser1395Phe) c.4376C>T (p.Ser1459Phe) c.*1046C>T (n.*1046C>T) c.4388C>T (p.Ser1463Phe) c.4562C>T (p.Ser1521Phe) c.*2536C>T (n.*2536C>T) c.4229C>T (p.Ser1410Phe) c.644C>T (p.Ser215Phe) c.4286C>T (p.Ser1429Phe) c.4103C>T (p.Ser1368Phe) n.6091C>T c.*2547C>T (n.*2547C>T) c.597C>T c.4151C>T (p.Ser1384Phe) c.561C>T c.3719C>T (p.Ser1240Phe) c.4115C>T (p.Ser1372Phe) c.2324C>T (p.Ser775Phe) c.4766C>T (p.Ser1589Phe) c.4640C>T (p.Ser1547Phe) c.4583C>T (p.Ser1528Phe) c.4310C>T (p.Ser1437Phe) c.4697C>T (p.Ser1566Phe) c.4631C>T (p.Ser1544Phe) c.4571C>T (p.Ser1524Phe) c.4457C>T (p.Ser1486Phe) c.4436C>T (p.Ser1479Phe) c.4301C>T (p.Ser1434Phe) c.4241C>T (p.Ser1414Phe) c.4175C>T (p.Ser1392Phe) c.4172C>T (p.Ser1391Phe) c.4163C>T (p.Ser1388Phe) c.4106C>T (p.Ser1369Phe) c.3989C>T (p.Ser1330Phe) | COSMIC COSMIC |
3 | g.77644873C>A | CA434435370 | ROBO2 | c.4299C>A (p.Ser1433=) c.4290C>A (p.Ser1430=) c.4185C>A (p.Ser1395=) c.4377C>A (p.Ser1459=) c.*1047C>A (n.*1047C>A) c.4389C>A (p.Ser1463=) c.4563C>A (p.Ser1521=) c.*2537C>A (n.*2537C>A) c.4230C>A (p.Ser1410=) c.645C>A (p.Ser215=) c.4287C>A (p.Ser1429=) c.4104C>A (p.Ser1368=) n.6092C>A c.*2548C>A (n.*2548C>A) c.598C>A c.4152C>A (p.Ser1384=) c.562C>A c.3720C>A (p.Ser1240=) c.4116C>A (p.Ser1372=) c.2325C>A (p.Ser775=) c.4767C>A (p.Ser1589=) c.4641C>A (p.Ser1547=) c.4584C>A (p.Ser1528=) c.4311C>A (p.Ser1437=) c.4698C>A (p.Ser1566=) c.4632C>A (p.Ser1544=) c.4572C>A (p.Ser1524=) c.4458C>A (p.Ser1486=) c.4437C>A (p.Ser1479=) c.4302C>A (p.Ser1434=) c.4242C>A (p.Ser1414=) c.4176C>A (p.Ser1392=) c.4173C>A (p.Ser1391=) c.4164C>A (p.Ser1388=) c.4107C>A (p.Ser1369=) c.3990C>A (p.Ser1330=) | |
3 | g.77644873C>G | CA434435371 | ROBO2 | c.4299C>G (p.Ser1433=) c.4290C>G (p.Ser1430=) c.4185C>G (p.Ser1395=) c.4377C>G (p.Ser1459=) c.*1047C>G (n.*1047C>G) c.4389C>G (p.Ser1463=) c.4563C>G (p.Ser1521=) c.*2537C>G (n.*2537C>G) c.4230C>G (p.Ser1410=) c.645C>G (p.Ser215=) c.4287C>G (p.Ser1429=) c.4104C>G (p.Ser1368=) n.6092C>G c.*2548C>G (n.*2548C>G) c.598C>G c.4152C>G (p.Ser1384=) c.562C>G c.3720C>G (p.Ser1240=) c.4116C>G (p.Ser1372=) c.2325C>G (p.Ser775=) c.4767C>G (p.Ser1589=) c.4641C>G (p.Ser1547=) c.4584C>G (p.Ser1528=) c.4311C>G (p.Ser1437=) c.4698C>G (p.Ser1566=) c.4632C>G (p.Ser1544=) c.4572C>G (p.Ser1524=) c.4458C>G (p.Ser1486=) c.4437C>G (p.Ser1479=) c.4302C>G (p.Ser1434=) c.4242C>G (p.Ser1414=) c.4176C>G (p.Ser1392=) c.4173C>G (p.Ser1391=) c.4164C>G (p.Ser1388=) c.4107C>G (p.Ser1369=) c.3990C>G (p.Ser1330=) | |
3 | g.77644873C>T | CA434435372 | ROBO2 | c.4299C>T (p.Ser1433=) c.4290C>T (p.Ser1430=) c.4185C>T (p.Ser1395=) c.4377C>T (p.Ser1459=) c.*1047C>T (n.*1047C>T) c.4389C>T (p.Ser1463=) c.4563C>T (p.Ser1521=) c.*2537C>T (n.*2537C>T) c.4230C>T (p.Ser1410=) c.645C>T (p.Ser215=) c.4287C>T (p.Ser1429=) c.4104C>T (p.Ser1368=) n.6092C>T c.*2548C>T (n.*2548C>T) c.598C>T c.4152C>T (p.Ser1384=) c.562C>T c.3720C>T (p.Ser1240=) c.4116C>T (p.Ser1372=) c.2325C>T (p.Ser775=) c.4767C>T (p.Ser1589=) c.4641C>T (p.Ser1547=) c.4584C>T (p.Ser1528=) c.4311C>T (p.Ser1437=) c.4698C>T (p.Ser1566=) c.4632C>T (p.Ser1544=) c.4572C>T (p.Ser1524=) c.4458C>T (p.Ser1486=) c.4437C>T (p.Ser1479=) c.4302C>T (p.Ser1434=) c.4242C>T (p.Ser1414=) c.4176C>T (p.Ser1392=) c.4173C>T (p.Ser1391=) c.4164C>T (p.Ser1388=) c.4107C>T (p.Ser1369=) c.3990C>T (p.Ser1330=) | gnomAD v4 |
3 | g.77644874A>C | CA353533856 | ROBO2 | c.4300A>C (p.Asn1434His) c.4291A>C (p.Asn1431His) c.4186A>C (p.Asn1396His) c.4378A>C (p.Asn1460His) c.*1048A>C (n.*1048A>C) c.4390A>C (p.Asn1464His) c.4564A>C (p.Asn1522His) c.*2538A>C (n.*2538A>C) c.4231A>C (p.Asn1411His) c.646A>C (p.Asn216His) c.4288A>C (p.Asn1430His) c.4105A>C (p.Asn1369His) n.6093A>C c.*2549A>C (n.*2549A>C) c.599A>C c.4153A>C (p.Asn1385His) c.563A>C c.3721A>C (p.Asn1241His) c.4117A>C (p.Asn1373His) c.2326A>C (p.Asn776His) c.4768A>C (p.Asn1590His) c.4642A>C (p.Asn1548His) c.4585A>C (p.Asn1529His) c.4312A>C (p.Asn1438His) c.4699A>C (p.Asn1567His) c.4633A>C (p.Asn1545His) c.4573A>C (p.Asn1525His) c.4459A>C (p.Asn1487His) c.4438A>C (p.Asn1480His) c.4303A>C (p.Asn1435His) c.4243A>C (p.Asn1415His) c.4177A>C (p.Asn1393His) c.4174A>C (p.Asn1392His) c.4165A>C (p.Asn1389His) c.4108A>C (p.Asn1370His) c.3991A>C (p.Asn1331His) | |
3 | g.77644874A>G | CA353533858 | ROBO2 | c.4300A>G (p.Asn1434Asp) c.4291A>G (p.Asn1431Asp) c.4186A>G (p.Asn1396Asp) c.4378A>G (p.Asn1460Asp) c.*1048A>G (n.*1048A>G) c.4390A>G (p.Asn1464Asp) c.4564A>G (p.Asn1522Asp) c.*2538A>G (n.*2538A>G) c.4231A>G (p.Asn1411Asp) c.646A>G (p.Asn216Asp) c.4288A>G (p.Asn1430Asp) c.4105A>G (p.Asn1369Asp) n.6093A>G c.*2549A>G (n.*2549A>G) c.599A>G c.4153A>G (p.Asn1385Asp) c.563A>G c.3721A>G (p.Asn1241Asp) c.4117A>G (p.Asn1373Asp) c.2326A>G (p.Asn776Asp) c.4768A>G (p.Asn1590Asp) c.4642A>G (p.Asn1548Asp) c.4585A>G (p.Asn1529Asp) c.4312A>G (p.Asn1438Asp) c.4699A>G (p.Asn1567Asp) c.4633A>G (p.Asn1545Asp) c.4573A>G (p.Asn1525Asp) c.4459A>G (p.Asn1487Asp) c.4438A>G (p.Asn1480Asp) c.4303A>G (p.Asn1435Asp) c.4243A>G (p.Asn1415Asp) c.4177A>G (p.Asn1393Asp) c.4174A>G (p.Asn1392Asp) c.4165A>G (p.Asn1389Asp) c.4108A>G (p.Asn1370Asp) c.3991A>G (p.Asn1331Asp) | |
3 | g.77644874A>T | CA353533859 | ROBO2 | c.4300A>T (p.Asn1434Tyr) c.4291A>T (p.Asn1431Tyr) c.4186A>T (p.Asn1396Tyr) c.4378A>T (p.Asn1460Tyr) c.*1048A>T (n.*1048A>T) c.4390A>T (p.Asn1464Tyr) c.4564A>T (p.Asn1522Tyr) c.*2538A>T (n.*2538A>T) c.4231A>T (p.Asn1411Tyr) c.646A>T (p.Asn216Tyr) c.4288A>T (p.Asn1430Tyr) c.4105A>T (p.Asn1369Tyr) n.6093A>T c.*2549A>T (n.*2549A>T) c.599A>T c.4153A>T (p.Asn1385Tyr) c.563A>T c.3721A>T (p.Asn1241Tyr) c.4117A>T (p.Asn1373Tyr) c.2326A>T (p.Asn776Tyr) c.4768A>T (p.Asn1590Tyr) c.4642A>T (p.Asn1548Tyr) c.4585A>T (p.Asn1529Tyr) c.4312A>T (p.Asn1438Tyr) c.4699A>T (p.Asn1567Tyr) c.4633A>T (p.Asn1545Tyr) c.4573A>T (p.Asn1525Tyr) c.4459A>T (p.Asn1487Tyr) c.4438A>T (p.Asn1480Tyr) c.4303A>T (p.Asn1435Tyr) c.4243A>T (p.Asn1415Tyr) c.4177A>T (p.Asn1393Tyr) c.4174A>T (p.Asn1392Tyr) c.4165A>T (p.Asn1389Tyr) c.4108A>T (p.Asn1370Tyr) c.3991A>T (p.Asn1331Tyr) | |
3 | g.77644875A= | CA1376777984 | ROBO2 | c.4301A= (p.Asn1434=) c.4292A= (p.Asn1431=) c.4187A= (p.Asn1396=) c.4379A= (p.Asn1460=) c.*1049A= (n.*1049A=) c.4391A= (p.Asn1464=) c.4565A= (p.Asn1522=) c.*2539A= (n.*2539A=) c.4232A= (p.Asn1411=) c.647A= (p.Asn216=) c.4289A= (p.Asn1430=) c.4106A= (p.Asn1369=) n.6094A= c.*2550A= (n.*2550A=) c.600A= c.4154A= (p.Asn1385=) c.564A= c.3722A= (p.Asn1241=) c.4118A= (p.Asn1373=) c.2327A= (p.Asn776=) c.4769A= (p.Asn1590=) c.4643A= (p.Asn1548=) c.4586A= (p.Asn1529=) c.4313A= (p.Asn1438=) c.4700A= (p.Asn1567=) c.4634A= (p.Asn1545=) c.4574A= (p.Asn1525=) c.4460A= (p.Asn1487=) c.4439A= (p.Asn1480=) c.4304A= (p.Asn1435=) c.4244A= (p.Asn1415=) c.4178A= (p.Asn1393=) c.4175A= (p.Asn1392=) c.4166A= (p.Asn1389=) c.4109A= (p.Asn1370=) c.3992A= (p.Asn1331=) | |
3 | g.77644875A>C | CA353533865 | ROBO2 | c.4301A>C (p.Asn1434Thr) c.4292A>C (p.Asn1431Thr) c.4187A>C (p.Asn1396Thr) c.4379A>C (p.Asn1460Thr) c.*1049A>C (n.*1049A>C) c.4391A>C (p.Asn1464Thr) c.4565A>C (p.Asn1522Thr) c.*2539A>C (n.*2539A>C) c.4232A>C (p.Asn1411Thr) c.647A>C (p.Asn216Thr) c.4289A>C (p.Asn1430Thr) c.4106A>C (p.Asn1369Thr) n.6094A>C c.*2550A>C (n.*2550A>C) c.600A>C c.4154A>C (p.Asn1385Thr) c.564A>C c.3722A>C (p.Asn1241Thr) c.4118A>C (p.Asn1373Thr) c.2327A>C (p.Asn776Thr) c.4769A>C (p.Asn1590Thr) c.4643A>C (p.Asn1548Thr) c.4586A>C (p.Asn1529Thr) c.4313A>C (p.Asn1438Thr) c.4700A>C (p.Asn1567Thr) c.4634A>C (p.Asn1545Thr) c.4574A>C (p.Asn1525Thr) c.4460A>C (p.Asn1487Thr) c.4439A>C (p.Asn1480Thr) c.4304A>C (p.Asn1435Thr) c.4244A>C (p.Asn1415Thr) c.4178A>C (p.Asn1393Thr) c.4175A>C (p.Asn1392Thr) c.4166A>C (p.Asn1389Thr) c.4109A>C (p.Asn1370Thr) c.3992A>C (p.Asn1331Thr) | |
3 | g.77644875A>G | CA353533864 | ROBO2 | c.4301A>G (p.Asn1434Ser) c.4292A>G (p.Asn1431Ser) c.4187A>G (p.Asn1396Ser) c.4379A>G (p.Asn1460Ser) c.*1049A>G (n.*1049A>G) c.4391A>G (p.Asn1464Ser) c.4565A>G (p.Asn1522Ser) c.*2539A>G (n.*2539A>G) c.4232A>G (p.Asn1411Ser) c.647A>G (p.Asn216Ser) c.4289A>G (p.Asn1430Ser) c.4106A>G (p.Asn1369Ser) n.6094A>G c.*2550A>G (n.*2550A>G) c.600A>G c.4154A>G (p.Asn1385Ser) c.564A>G c.3722A>G (p.Asn1241Ser) c.4118A>G (p.Asn1373Ser) c.2327A>G (p.Asn776Ser) c.4769A>G (p.Asn1590Ser) c.4643A>G (p.Asn1548Ser) c.4586A>G (p.Asn1529Ser) c.4313A>G (p.Asn1438Ser) c.4700A>G (p.Asn1567Ser) c.4634A>G (p.Asn1545Ser) c.4574A>G (p.Asn1525Ser) c.4460A>G (p.Asn1487Ser) c.4439A>G (p.Asn1480Ser) c.4304A>G (p.Asn1435Ser) c.4244A>G (p.Asn1415Ser) c.4178A>G (p.Asn1393Ser) c.4175A>G (p.Asn1392Ser) c.4166A>G (p.Asn1389Ser) c.4109A>G (p.Asn1370Ser) c.3992A>G (p.Asn1331Ser) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644875A>T | CA353533862 | ROBO2 | c.4301A>T (p.Asn1434Ile) c.4292A>T (p.Asn1431Ile) c.4187A>T (p.Asn1396Ile) c.4379A>T (p.Asn1460Ile) c.*1049A>T (n.*1049A>T) c.4391A>T (p.Asn1464Ile) c.4565A>T (p.Asn1522Ile) c.*2539A>T (n.*2539A>T) c.4232A>T (p.Asn1411Ile) c.647A>T (p.Asn216Ile) c.4289A>T (p.Asn1430Ile) c.4106A>T (p.Asn1369Ile) n.6094A>T c.*2550A>T (n.*2550A>T) c.600A>T c.4154A>T (p.Asn1385Ile) c.564A>T c.3722A>T (p.Asn1241Ile) c.4118A>T (p.Asn1373Ile) c.2327A>T (p.Asn776Ile) c.4769A>T (p.Asn1590Ile) c.4643A>T (p.Asn1548Ile) c.4586A>T (p.Asn1529Ile) c.4313A>T (p.Asn1438Ile) c.4700A>T (p.Asn1567Ile) c.4634A>T (p.Asn1545Ile) c.4574A>T (p.Asn1525Ile) c.4460A>T (p.Asn1487Ile) c.4439A>T (p.Asn1480Ile) c.4304A>T (p.Asn1435Ile) c.4244A>T (p.Asn1415Ile) c.4178A>T (p.Asn1393Ile) c.4175A>T (p.Asn1392Ile) c.4166A>T (p.Asn1389Ile) c.4109A>T (p.Asn1370Ile) c.3992A>T (p.Asn1331Ile) | |
3 | g.77644876C>A | CA353533867 | ROBO2 | c.4302C>A (p.Asn1434Lys) c.4293C>A (p.Asn1431Lys) c.4188C>A (p.Asn1396Lys) c.4380C>A (p.Asn1460Lys) c.*1050C>A (n.*1050C>A) c.4392C>A (p.Asn1464Lys) c.4566C>A (p.Asn1522Lys) c.*2540C>A (n.*2540C>A) c.4233C>A (p.Asn1411Lys) c.648C>A (p.Asn216Lys) c.4290C>A (p.Asn1430Lys) c.4107C>A (p.Asn1369Lys) n.6095C>A c.*2551C>A (n.*2551C>A) c.601C>A c.4155C>A (p.Asn1385Lys) c.565C>A c.3723C>A (p.Asn1241Lys) c.4119C>A (p.Asn1373Lys) c.2328C>A (p.Asn776Lys) c.4770C>A (p.Asn1590Lys) c.4644C>A (p.Asn1548Lys) c.4587C>A (p.Asn1529Lys) c.4314C>A (p.Asn1438Lys) c.4701C>A (p.Asn1567Lys) c.4635C>A (p.Asn1545Lys) c.4575C>A (p.Asn1525Lys) c.4461C>A (p.Asn1487Lys) c.4440C>A (p.Asn1480Lys) c.4305C>A (p.Asn1435Lys) c.4245C>A (p.Asn1415Lys) c.4179C>A (p.Asn1393Lys) c.4176C>A (p.Asn1392Lys) c.4167C>A (p.Asn1389Lys) c.4110C>A (p.Asn1370Lys) c.3993C>A (p.Asn1331Lys) | |
3 | g.77644876C>G | CA353533869 | ROBO2 | c.4302C>G (p.Asn1434Lys) c.4293C>G (p.Asn1431Lys) c.4188C>G (p.Asn1396Lys) c.4380C>G (p.Asn1460Lys) c.*1050C>G (n.*1050C>G) c.4392C>G (p.Asn1464Lys) c.4566C>G (p.Asn1522Lys) c.*2540C>G (n.*2540C>G) c.4233C>G (p.Asn1411Lys) c.648C>G (p.Asn216Lys) c.4290C>G (p.Asn1430Lys) c.4107C>G (p.Asn1369Lys) n.6095C>G c.*2551C>G (n.*2551C>G) c.601C>G c.4155C>G (p.Asn1385Lys) c.565C>G c.3723C>G (p.Asn1241Lys) c.4119C>G (p.Asn1373Lys) c.2328C>G (p.Asn776Lys) c.4770C>G (p.Asn1590Lys) c.4644C>G (p.Asn1548Lys) c.4587C>G (p.Asn1529Lys) c.4314C>G (p.Asn1438Lys) c.4701C>G (p.Asn1567Lys) c.4635C>G (p.Asn1545Lys) c.4575C>G (p.Asn1525Lys) c.4461C>G (p.Asn1487Lys) c.4440C>G (p.Asn1480Lys) c.4305C>G (p.Asn1435Lys) c.4245C>G (p.Asn1415Lys) c.4179C>G (p.Asn1393Lys) c.4176C>G (p.Asn1392Lys) c.4167C>G (p.Asn1389Lys) c.4110C>G (p.Asn1370Lys) c.3993C>G (p.Asn1331Lys) | |
3 | g.77644876C>T | CA434435377 | ROBO2 | c.4302C>T (p.Asn1434=) c.4293C>T (p.Asn1431=) c.4188C>T (p.Asn1396=) c.4380C>T (p.Asn1460=) c.*1050C>T (n.*1050C>T) c.4392C>T (p.Asn1464=) c.4566C>T (p.Asn1522=) c.*2540C>T (n.*2540C>T) c.4233C>T (p.Asn1411=) c.648C>T (p.Asn216=) c.4290C>T (p.Asn1430=) c.4107C>T (p.Asn1369=) n.6095C>T c.*2551C>T (n.*2551C>T) c.601C>T c.4155C>T (p.Asn1385=) c.565C>T c.3723C>T (p.Asn1241=) c.4119C>T (p.Asn1373=) c.2328C>T (p.Asn776=) c.4770C>T (p.Asn1590=) c.4644C>T (p.Asn1548=) c.4587C>T (p.Asn1529=) c.4314C>T (p.Asn1438=) c.4701C>T (p.Asn1567=) c.4635C>T (p.Asn1545=) c.4575C>T (p.Asn1525=) c.4461C>T (p.Asn1487=) c.4440C>T (p.Asn1480=) c.4305C>T (p.Asn1435=) c.4245C>T (p.Asn1415=) c.4179C>T (p.Asn1393=) c.4176C>T (p.Asn1392=) c.4167C>T (p.Asn1389=) c.4110C>T (p.Asn1370=) c.3993C>T (p.Asn1331=) | gnomAD v4 |
3 | g.77644877A>C | CA353533871 | ROBO2 | c.4303A>C (p.Ser1435Arg) c.4294A>C (p.Ser1432Arg) c.4189A>C (p.Ser1397Arg) c.4381A>C (p.Ser1461Arg) c.*1051A>C (n.*1051A>C) c.4393A>C (p.Ser1465Arg) c.4567A>C (p.Ser1523Arg) c.*2541A>C (n.*2541A>C) c.4234A>C (p.Ser1412Arg) c.649A>C (p.Ser217Arg) c.4291A>C (p.Ser1431Arg) c.4108A>C (p.Ser1370Arg) n.6096A>C c.*2552A>C (n.*2552A>C) c.602A>C c.4156A>C (p.Ser1386Arg) c.566A>C c.3724A>C (p.Ser1242Arg) c.4120A>C (p.Ser1374Arg) c.2329A>C (p.Ser777Arg) c.4771A>C (p.Ser1591Arg) c.4645A>C (p.Ser1549Arg) c.4588A>C (p.Ser1530Arg) c.4315A>C (p.Ser1439Arg) c.4702A>C (p.Ser1568Arg) c.4636A>C (p.Ser1546Arg) c.4576A>C (p.Ser1526Arg) c.4462A>C (p.Ser1488Arg) c.4441A>C (p.Ser1481Arg) c.4306A>C (p.Ser1436Arg) c.4246A>C (p.Ser1416Arg) c.4180A>C (p.Ser1394Arg) c.4177A>C (p.Ser1393Arg) c.4168A>C (p.Ser1390Arg) c.4111A>C (p.Ser1371Arg) c.3994A>C (p.Ser1332Arg) | |
3 | g.77644877A>G | CA353533873 | ROBO2 | c.4303A>G (p.Ser1435Gly) c.4294A>G (p.Ser1432Gly) c.4189A>G (p.Ser1397Gly) c.4381A>G (p.Ser1461Gly) c.*1051A>G (n.*1051A>G) c.4393A>G (p.Ser1465Gly) c.4567A>G (p.Ser1523Gly) c.*2541A>G (n.*2541A>G) c.4234A>G (p.Ser1412Gly) c.649A>G (p.Ser217Gly) c.4291A>G (p.Ser1431Gly) c.4108A>G (p.Ser1370Gly) n.6096A>G c.*2552A>G (n.*2552A>G) c.602A>G c.4156A>G (p.Ser1386Gly) c.566A>G c.3724A>G (p.Ser1242Gly) c.4120A>G (p.Ser1374Gly) c.2329A>G (p.Ser777Gly) c.4771A>G (p.Ser1591Gly) c.4645A>G (p.Ser1549Gly) c.4588A>G (p.Ser1530Gly) c.4315A>G (p.Ser1439Gly) c.4702A>G (p.Ser1568Gly) c.4636A>G (p.Ser1546Gly) c.4576A>G (p.Ser1526Gly) c.4462A>G (p.Ser1488Gly) c.4441A>G (p.Ser1481Gly) c.4306A>G (p.Ser1436Gly) c.4246A>G (p.Ser1416Gly) c.4180A>G (p.Ser1394Gly) c.4177A>G (p.Ser1393Gly) c.4168A>G (p.Ser1390Gly) c.4111A>G (p.Ser1371Gly) c.3994A>G (p.Ser1332Gly) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644877A>T | CA353533875 | ROBO2 | c.4303A>T (p.Ser1435Cys) c.4294A>T (p.Ser1432Cys) c.4189A>T (p.Ser1397Cys) c.4381A>T (p.Ser1461Cys) c.*1051A>T (n.*1051A>T) c.4393A>T (p.Ser1465Cys) c.4567A>T (p.Ser1523Cys) c.*2541A>T (n.*2541A>T) c.4234A>T (p.Ser1412Cys) c.649A>T (p.Ser217Cys) c.4291A>T (p.Ser1431Cys) c.4108A>T (p.Ser1370Cys) n.6096A>T c.*2552A>T (n.*2552A>T) c.602A>T c.4156A>T (p.Ser1386Cys) c.566A>T c.3724A>T (p.Ser1242Cys) c.4120A>T (p.Ser1374Cys) c.2329A>T (p.Ser777Cys) c.4771A>T (p.Ser1591Cys) c.4645A>T (p.Ser1549Cys) c.4588A>T (p.Ser1530Cys) c.4315A>T (p.Ser1439Cys) c.4702A>T (p.Ser1568Cys) c.4636A>T (p.Ser1546Cys) c.4576A>T (p.Ser1526Cys) c.4462A>T (p.Ser1488Cys) c.4441A>T (p.Ser1481Cys) c.4306A>T (p.Ser1436Cys) c.4246A>T (p.Ser1416Cys) c.4180A>T (p.Ser1394Cys) c.4177A>T (p.Ser1393Cys) c.4168A>T (p.Ser1390Cys) c.4111A>T (p.Ser1371Cys) c.3994A>T (p.Ser1332Cys) | |
3 | g.77644878G>A | CA353533876 | ROBO2 | c.4304G>A (p.Ser1435Asn) c.4295G>A (p.Ser1432Asn) c.4190G>A (p.Ser1397Asn) c.4382G>A (p.Ser1461Asn) c.*1052G>A (n.*1052G>A) c.4394G>A (p.Ser1465Asn) c.4568G>A (p.Ser1523Asn) c.*2542G>A (n.*2542G>A) c.4235G>A (p.Ser1412Asn) c.650G>A (p.Ser217Asn) c.4292G>A (p.Ser1431Asn) c.4109G>A (p.Ser1370Asn) n.6097G>A c.*2553G>A (n.*2553G>A) c.603G>A c.4157G>A (p.Ser1386Asn) c.567G>A c.3725G>A (p.Ser1242Asn) c.4121G>A (p.Ser1374Asn) c.2330G>A (p.Ser777Asn) c.4772G>A (p.Ser1591Asn) c.4646G>A (p.Ser1549Asn) c.4589G>A (p.Ser1530Asn) c.4316G>A (p.Ser1439Asn) c.4703G>A (p.Ser1568Asn) c.4637G>A (p.Ser1546Asn) c.4577G>A (p.Ser1526Asn) c.4463G>A (p.Ser1488Asn) c.4442G>A (p.Ser1481Asn) c.4307G>A (p.Ser1436Asn) c.4247G>A (p.Ser1416Asn) c.4181G>A (p.Ser1394Asn) c.4178G>A (p.Ser1393Asn) c.4169G>A (p.Ser1390Asn) c.4112G>A (p.Ser1371Asn) c.3995G>A (p.Ser1332Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644878G>C | CA353533878 | ROBO2 | c.4304G>C (p.Ser1435Thr) c.4295G>C (p.Ser1432Thr) c.4190G>C (p.Ser1397Thr) c.4382G>C (p.Ser1461Thr) c.*1052G>C (n.*1052G>C) c.4394G>C (p.Ser1465Thr) c.4568G>C (p.Ser1523Thr) c.*2542G>C (n.*2542G>C) c.4235G>C (p.Ser1412Thr) c.650G>C (p.Ser217Thr) c.4292G>C (p.Ser1431Thr) c.4109G>C (p.Ser1370Thr) n.6097G>C c.*2553G>C (n.*2553G>C) c.603G>C c.4157G>C (p.Ser1386Thr) c.567G>C c.3725G>C (p.Ser1242Thr) c.4121G>C (p.Ser1374Thr) c.2330G>C (p.Ser777Thr) c.4772G>C (p.Ser1591Thr) c.4646G>C (p.Ser1549Thr) c.4589G>C (p.Ser1530Thr) c.4316G>C (p.Ser1439Thr) c.4703G>C (p.Ser1568Thr) c.4637G>C (p.Ser1546Thr) c.4577G>C (p.Ser1526Thr) c.4463G>C (p.Ser1488Thr) c.4442G>C (p.Ser1481Thr) c.4307G>C (p.Ser1436Thr) c.4247G>C (p.Ser1416Thr) c.4181G>C (p.Ser1394Thr) c.4178G>C (p.Ser1393Thr) c.4169G>C (p.Ser1390Thr) c.4112G>C (p.Ser1371Thr) c.3995G>C (p.Ser1332Thr) | |
3 | g.77644878G= | CA1376777985 | ROBO2 | c.4304G= (p.Ser1435=) c.4295G= (p.Ser1432=) c.4190G= (p.Ser1397=) c.4382G= (p.Ser1461=) c.*1052G= (n.*1052G=) c.4394G= (p.Ser1465=) c.4568G= (p.Ser1523=) c.*2542G= (n.*2542G=) c.4235G= (p.Ser1412=) c.650G= (p.Ser217=) c.4292G= (p.Ser1431=) c.4109G= (p.Ser1370=) n.6097G= c.*2553G= (n.*2553G=) c.603G= c.4157G= (p.Ser1386=) c.567G= c.3725G= (p.Ser1242=) c.4121G= (p.Ser1374=) c.2330G= (p.Ser777=) c.4772G= (p.Ser1591=) c.4646G= (p.Ser1549=) c.4589G= (p.Ser1530=) c.4316G= (p.Ser1439=) c.4703G= (p.Ser1568=) c.4637G= (p.Ser1546=) c.4577G= (p.Ser1526=) c.4463G= (p.Ser1488=) c.4442G= (p.Ser1481=) c.4307G= (p.Ser1436=) c.4247G= (p.Ser1416=) c.4181G= (p.Ser1394=) c.4178G= (p.Ser1393=) c.4169G= (p.Ser1390=) c.4112G= (p.Ser1371=) c.3995G= (p.Ser1332=) | |
3 | g.77644878G>T | CA353533880 | ROBO2 | c.4304G>T (p.Ser1435Ile) c.4295G>T (p.Ser1432Ile) c.4190G>T (p.Ser1397Ile) c.4382G>T (p.Ser1461Ile) c.*1052G>T (n.*1052G>T) c.4394G>T (p.Ser1465Ile) c.4568G>T (p.Ser1523Ile) c.*2542G>T (n.*2542G>T) c.4235G>T (p.Ser1412Ile) c.650G>T (p.Ser217Ile) c.4292G>T (p.Ser1431Ile) c.4109G>T (p.Ser1370Ile) n.6097G>T c.*2553G>T (n.*2553G>T) c.603G>T c.4157G>T (p.Ser1386Ile) c.567G>T c.3725G>T (p.Ser1242Ile) c.4121G>T (p.Ser1374Ile) c.2330G>T (p.Ser777Ile) c.4772G>T (p.Ser1591Ile) c.4646G>T (p.Ser1549Ile) c.4589G>T (p.Ser1530Ile) c.4316G>T (p.Ser1439Ile) c.4703G>T (p.Ser1568Ile) c.4637G>T (p.Ser1546Ile) c.4577G>T (p.Ser1526Ile) c.4463G>T (p.Ser1488Ile) c.4442G>T (p.Ser1481Ile) c.4307G>T (p.Ser1436Ile) c.4247G>T (p.Ser1416Ile) c.4181G>T (p.Ser1394Ile) c.4178G>T (p.Ser1393Ile) c.4169G>T (p.Ser1390Ile) c.4112G>T (p.Ser1371Ile) c.3995G>T (p.Ser1332Ile) | |
3 | g.77644879T>A | CA353533882 | ROBO2 | c.4305T>A (p.Ser1435Arg) c.4296T>A (p.Ser1432Arg) c.4191T>A (p.Ser1397Arg) c.4383T>A (p.Ser1461Arg) c.*1053T>A (n.*1053T>A) c.4395T>A (p.Ser1465Arg) c.4569T>A (p.Ser1523Arg) c.*2543T>A (n.*2543T>A) c.4236T>A (p.Ser1412Arg) c.651T>A (p.Ser217Arg) c.4293T>A (p.Ser1431Arg) c.4110T>A (p.Ser1370Arg) n.6098T>A c.*2554T>A (n.*2554T>A) c.604T>A c.4158T>A (p.Ser1386Arg) c.568T>A c.3726T>A (p.Ser1242Arg) c.4122T>A (p.Ser1374Arg) c.2331T>A (p.Ser777Arg) c.4773T>A (p.Ser1591Arg) c.4647T>A (p.Ser1549Arg) c.4590T>A (p.Ser1530Arg) c.4317T>A (p.Ser1439Arg) c.4704T>A (p.Ser1568Arg) c.4638T>A (p.Ser1546Arg) c.4578T>A (p.Ser1526Arg) c.4464T>A (p.Ser1488Arg) c.4443T>A (p.Ser1481Arg) c.4308T>A (p.Ser1436Arg) c.4248T>A (p.Ser1416Arg) c.4182T>A (p.Ser1394Arg) c.4179T>A (p.Ser1393Arg) c.4170T>A (p.Ser1390Arg) c.4113T>A (p.Ser1371Arg) c.3996T>A (p.Ser1332Arg) | |
3 | g.77644879T>C | CA434435380 | ROBO2 | c.4305T>C (p.Ser1435=) c.4296T>C (p.Ser1432=) c.4191T>C (p.Ser1397=) c.4383T>C (p.Ser1461=) c.*1053T>C (n.*1053T>C) c.4395T>C (p.Ser1465=) c.4569T>C (p.Ser1523=) c.*2543T>C (n.*2543T>C) c.4236T>C (p.Ser1412=) c.651T>C (p.Ser217=) c.4293T>C (p.Ser1431=) c.4110T>C (p.Ser1370=) n.6098T>C c.*2554T>C (n.*2554T>C) c.604T>C c.4158T>C (p.Ser1386=) c.568T>C c.3726T>C (p.Ser1242=) c.4122T>C (p.Ser1374=) c.2331T>C (p.Ser777=) c.4773T>C (p.Ser1591=) c.4647T>C (p.Ser1549=) c.4590T>C (p.Ser1530=) c.4317T>C (p.Ser1439=) c.4704T>C (p.Ser1568=) c.4638T>C (p.Ser1546=) c.4578T>C (p.Ser1526=) c.4464T>C (p.Ser1488=) c.4443T>C (p.Ser1481=) c.4308T>C (p.Ser1436=) c.4248T>C (p.Ser1416=) c.4182T>C (p.Ser1394=) c.4179T>C (p.Ser1393=) c.4170T>C (p.Ser1390=) c.4113T>C (p.Ser1371=) c.3996T>C (p.Ser1332=) | |
3 | g.77644879T>G | CA353533884 | ROBO2 | c.4305T>G (p.Ser1435Arg) c.4296T>G (p.Ser1432Arg) c.4191T>G (p.Ser1397Arg) c.4383T>G (p.Ser1461Arg) c.*1053T>G (n.*1053T>G) c.4395T>G (p.Ser1465Arg) c.4569T>G (p.Ser1523Arg) c.*2543T>G (n.*2543T>G) c.4236T>G (p.Ser1412Arg) c.651T>G (p.Ser217Arg) c.4293T>G (p.Ser1431Arg) c.4110T>G (p.Ser1370Arg) n.6098T>G c.*2554T>G (n.*2554T>G) c.604T>G c.4158T>G (p.Ser1386Arg) c.568T>G c.3726T>G (p.Ser1242Arg) c.4122T>G (p.Ser1374Arg) c.2331T>G (p.Ser777Arg) c.4773T>G (p.Ser1591Arg) c.4647T>G (p.Ser1549Arg) c.4590T>G (p.Ser1530Arg) c.4317T>G (p.Ser1439Arg) c.4704T>G (p.Ser1568Arg) c.4638T>G (p.Ser1546Arg) c.4578T>G (p.Ser1526Arg) c.4464T>G (p.Ser1488Arg) c.4443T>G (p.Ser1481Arg) c.4308T>G (p.Ser1436Arg) c.4248T>G (p.Ser1416Arg) c.4182T>G (p.Ser1394Arg) c.4179T>G (p.Ser1393Arg) c.4170T>G (p.Ser1390Arg) c.4113T>G (p.Ser1371Arg) c.3996T>G (p.Ser1332Arg) | |
3 | g.77644879_77644880del | CA2756900037 | ROBO2 | c.4305_4306del (p.Ser1435ArgfsTer7) c.4296_4297del (p.Ser1432ArgfsTer17) c.4191_4192del (p.Ser1397ArgfsTer17) c.4383_4384del (p.Ser1461ArgfsTer7) c.*1053_*1054del (n.*1053_*1054del) c.4395_4396del (p.Ser1465ArgfsTer7) c.4296_4297del (p.Ser1432ArgfsTer7) c.4569_4570del (p.Ser1523ArgfsTer7) c.*2543_*2544del (n.*2543_*2544del) c.4236_4237del (p.Ser1412ArgfsTer7) c.651_652del (p.Ser217ArgfsTer17) c.4293_4294del (p.Ser1431ArgfsTer7) c.4110_4111del (p.Ser1370ArgfsTer7) n.6098_6099del c.*2554_*2555del (n.*2554_*2555del) c.604_605del c.4158_4159del (p.Ser1386ArgfsTer7) c.568_569del c.3726_3727del (p.Ser1242ArgfsTer7) c.4122_4123del (p.Ser1374ArgfsTer7) c.2331_2332del (p.Ser777ArgfsTer7) c.4773_4774del (p.Ser1591ArgfsTer17) c.4647_4648del (p.Ser1549ArgfsTer7) c.4590_4591del (p.Ser1530ArgfsTer7) c.4317_4318del (p.Ser1439ArgfsTer7) c.4191_4192del (p.Ser1397ArgfsTer7) c.4704_4705del (p.Ser1568ArgfsTer7) c.4638_4639del (p.Ser1546ArgfsTer7) c.4590_4591del (p.Ser1530ArgfsTer17) c.4578_4579del (p.Ser1526ArgfsTer7) c.4464_4465del (p.Ser1488ArgfsTer7) c.4443_4444del (p.Ser1481ArgfsTer7) c.4317_4318del (p.Ser1439ArgfsTer17) c.4308_4309del (p.Ser1436ArgfsTer17) c.4248_4249del (p.Ser1416ArgfsTer7) c.4248_4249del (p.Ser1416ArgfsTer17) c.4182_4183del (p.Ser1394ArgfsTer7) c.4179_4180del (p.Ser1393ArgfsTer7) c.4170_4171del (p.Ser1390ArgfsTer7) c.4170_4171del (p.Ser1390ArgfsTer17) c.4113_4114del (p.Ser1371ArgfsTer7) c.3996_3997del (p.Ser1332ArgfsTer17) c.4305_4306del (p.Ser1435ArgfsTer17) | |
3 | g.77644880C>A | CA353533887 | ROBO2 | c.4306C>A (p.Gln1436Lys) c.4297C>A (p.Gln1433Lys) c.4192C>A (p.Gln1398Lys) c.4384C>A (p.Gln1462Lys) c.*1054C>A (n.*1054C>A) c.4396C>A (p.Gln1466Lys) c.4570C>A (p.Gln1524Lys) c.*2544C>A (n.*2544C>A) c.4237C>A (p.Gln1413Lys) c.652C>A (p.Gln218Lys) c.4294C>A (p.Gln1432Lys) c.4111C>A (p.Gln1371Lys) n.6099C>A c.*2555C>A (n.*2555C>A) c.605C>A c.4159C>A (p.Gln1387Lys) c.569C>A c.3727C>A (p.Gln1243Lys) c.4123C>A (p.Gln1375Lys) c.2332C>A (p.Gln778Lys) c.4774C>A (p.Gln1592Lys) c.4648C>A (p.Gln1550Lys) c.4591C>A (p.Gln1531Lys) c.4318C>A (p.Gln1440Lys) c.4705C>A (p.Gln1569Lys) c.4639C>A (p.Gln1547Lys) c.4579C>A (p.Gln1527Lys) c.4465C>A (p.Gln1489Lys) c.4444C>A (p.Gln1482Lys) c.4309C>A (p.Gln1437Lys) c.4249C>A (p.Gln1417Lys) c.4183C>A (p.Gln1395Lys) c.4180C>A (p.Gln1394Lys) c.4171C>A (p.Gln1391Lys) c.4114C>A (p.Gln1372Lys) c.3997C>A (p.Gln1333Lys) | gnomAD v4 |
3 | g.77644880C= | CA1376777986 | ROBO2 | c.4306C= (p.Gln1436=) c.4297C= (p.Gln1433=) c.4192C= (p.Gln1398=) c.4384C= (p.Gln1462=) c.*1054C= (n.*1054C=) c.4396C= (p.Gln1466=) c.4570C= (p.Gln1524=) c.*2544C= (n.*2544C=) c.4237C= (p.Gln1413=) c.652C= (p.Gln218=) c.4294C= (p.Gln1432=) c.4111C= (p.Gln1371=) n.6099C= c.*2555C= (n.*2555C=) c.605C= c.4159C= (p.Gln1387=) c.569C= c.3727C= (p.Gln1243=) c.4123C= (p.Gln1375=) c.2332C= (p.Gln778=) c.4774C= (p.Gln1592=) c.4648C= (p.Gln1550=) c.4591C= (p.Gln1531=) c.4318C= (p.Gln1440=) c.4705C= (p.Gln1569=) c.4639C= (p.Gln1547=) c.4579C= (p.Gln1527=) c.4465C= (p.Gln1489=) c.4444C= (p.Gln1482=) c.4309C= (p.Gln1437=) c.4249C= (p.Gln1417=) c.4183C= (p.Gln1395=) c.4180C= (p.Gln1394=) c.4171C= (p.Gln1391=) c.4114C= (p.Gln1372=) c.3997C= (p.Gln1333=) | |
3 | g.77644880C>G | CA77532987 | ROBO2 | c.4306C>G (p.Gln1436Glu) c.4297C>G (p.Gln1433Glu) c.4192C>G (p.Gln1398Glu) c.4384C>G (p.Gln1462Glu) c.*1054C>G (n.*1054C>G) c.4396C>G (p.Gln1466Glu) c.4570C>G (p.Gln1524Glu) c.*2544C>G (n.*2544C>G) c.4237C>G (p.Gln1413Glu) c.652C>G (p.Gln218Glu) c.4294C>G (p.Gln1432Glu) c.4111C>G (p.Gln1371Glu) n.6099C>G c.*2555C>G (n.*2555C>G) c.605C>G c.4159C>G (p.Gln1387Glu) c.569C>G c.3727C>G (p.Gln1243Glu) c.4123C>G (p.Gln1375Glu) c.2332C>G (p.Gln778Glu) c.4774C>G (p.Gln1592Glu) c.4648C>G (p.Gln1550Glu) c.4591C>G (p.Gln1531Glu) c.4318C>G (p.Gln1440Glu) c.4705C>G (p.Gln1569Glu) c.4639C>G (p.Gln1547Glu) c.4579C>G (p.Gln1527Glu) c.4465C>G (p.Gln1489Glu) c.4444C>G (p.Gln1482Glu) c.4309C>G (p.Gln1437Glu) c.4249C>G (p.Gln1417Glu) c.4183C>G (p.Gln1395Glu) c.4180C>G (p.Gln1394Glu) c.4171C>G (p.Gln1391Glu) c.4114C>G (p.Gln1372Glu) c.3997C>G (p.Gln1333Glu) | dbSNP |
3 | g.77644880C>T | CA353533890 | ROBO2 | c.4306C>T (p.Gln1436Ter) c.4297C>T (p.Gln1433Ter) c.4192C>T (p.Gln1398Ter) c.4384C>T (p.Gln1462Ter) c.*1054C>T (n.*1054C>T) c.4396C>T (p.Gln1466Ter) c.4570C>T (p.Gln1524Ter) c.*2544C>T (n.*2544C>T) c.4237C>T (p.Gln1413Ter) c.652C>T (p.Gln218Ter) c.4294C>T (p.Gln1432Ter) c.4111C>T (p.Gln1371Ter) n.6099C>T c.*2555C>T (n.*2555C>T) c.605C>T c.4159C>T (p.Gln1387Ter) c.569C>T c.3727C>T (p.Gln1243Ter) c.4123C>T (p.Gln1375Ter) c.2332C>T (p.Gln778Ter) c.4774C>T (p.Gln1592Ter) c.4648C>T (p.Gln1550Ter) c.4591C>T (p.Gln1531Ter) c.4318C>T (p.Gln1440Ter) c.4705C>T (p.Gln1569Ter) c.4639C>T (p.Gln1547Ter) c.4579C>T (p.Gln1527Ter) c.4465C>T (p.Gln1489Ter) c.4444C>T (p.Gln1482Ter) c.4309C>T (p.Gln1437Ter) c.4249C>T (p.Gln1417Ter) c.4183C>T (p.Gln1395Ter) c.4180C>T (p.Gln1394Ter) c.4171C>T (p.Gln1391Ter) c.4114C>T (p.Gln1372Ter) c.3997C>T (p.Gln1333Ter) | |
3 | g.77644881A= | CA1376777987 | ROBO2 | c.4307A= (p.Gln1436=) c.4298A= (p.Gln1433=) c.4193A= (p.Gln1398=) c.4385A= (p.Gln1462=) c.*1055A= (n.*1055A=) c.4397A= (p.Gln1466=) c.4571A= (p.Gln1524=) c.*2545A= (n.*2545A=) c.4238A= (p.Gln1413=) c.653A= (p.Gln218=) c.4295A= (p.Gln1432=) c.4112A= (p.Gln1371=) n.6100A= c.*2556A= (n.*2556A=) c.606A= c.4160A= (p.Gln1387=) c.570A= c.3728A= (p.Gln1243=) c.4124A= (p.Gln1375=) c.2333A= (p.Gln778=) c.4775A= (p.Gln1592=) c.4649A= (p.Gln1550=) c.4592A= (p.Gln1531=) c.4319A= (p.Gln1440=) c.4706A= (p.Gln1569=) c.4640A= (p.Gln1547=) c.4580A= (p.Gln1527=) c.4466A= (p.Gln1489=) c.4445A= (p.Gln1482=) c.4310A= (p.Gln1437=) c.4250A= (p.Gln1417=) c.4184A= (p.Gln1395=) c.4181A= (p.Gln1394=) c.4172A= (p.Gln1391=) c.4115A= (p.Gln1372=) c.3998A= (p.Gln1333=) | |
3 | g.77644881A>C | CA353533894 | ROBO2 | c.4307A>C (p.Gln1436Pro) c.4298A>C (p.Gln1433Pro) c.4193A>C (p.Gln1398Pro) c.4385A>C (p.Gln1462Pro) c.*1055A>C (n.*1055A>C) c.4397A>C (p.Gln1466Pro) c.4571A>C (p.Gln1524Pro) c.*2545A>C (n.*2545A>C) c.4238A>C (p.Gln1413Pro) c.653A>C (p.Gln218Pro) c.4295A>C (p.Gln1432Pro) c.4112A>C (p.Gln1371Pro) n.6100A>C c.*2556A>C (n.*2556A>C) c.606A>C c.4160A>C (p.Gln1387Pro) c.570A>C c.3728A>C (p.Gln1243Pro) c.4124A>C (p.Gln1375Pro) c.2333A>C (p.Gln778Pro) c.4775A>C (p.Gln1592Pro) c.4649A>C (p.Gln1550Pro) c.4592A>C (p.Gln1531Pro) c.4319A>C (p.Gln1440Pro) c.4706A>C (p.Gln1569Pro) c.4640A>C (p.Gln1547Pro) c.4580A>C (p.Gln1527Pro) c.4466A>C (p.Gln1489Pro) c.4445A>C (p.Gln1482Pro) c.4310A>C (p.Gln1437Pro) c.4250A>C (p.Gln1417Pro) c.4184A>C (p.Gln1395Pro) c.4181A>C (p.Gln1394Pro) c.4172A>C (p.Gln1391Pro) c.4115A>C (p.Gln1372Pro) c.3998A>C (p.Gln1333Pro) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644881A>G | CA353533896 | ROBO2 | c.4307A>G (p.Gln1436Arg) c.4298A>G (p.Gln1433Arg) c.4193A>G (p.Gln1398Arg) c.4385A>G (p.Gln1462Arg) c.*1055A>G (n.*1055A>G) c.4397A>G (p.Gln1466Arg) c.4571A>G (p.Gln1524Arg) c.*2545A>G (n.*2545A>G) c.4238A>G (p.Gln1413Arg) c.653A>G (p.Gln218Arg) c.4295A>G (p.Gln1432Arg) c.4112A>G (p.Gln1371Arg) n.6100A>G c.*2556A>G (n.*2556A>G) c.606A>G c.4160A>G (p.Gln1387Arg) c.570A>G c.3728A>G (p.Gln1243Arg) c.4124A>G (p.Gln1375Arg) c.2333A>G (p.Gln778Arg) c.4775A>G (p.Gln1592Arg) c.4649A>G (p.Gln1550Arg) c.4592A>G (p.Gln1531Arg) c.4319A>G (p.Gln1440Arg) c.4706A>G (p.Gln1569Arg) c.4640A>G (p.Gln1547Arg) c.4580A>G (p.Gln1527Arg) c.4466A>G (p.Gln1489Arg) c.4445A>G (p.Gln1482Arg) c.4310A>G (p.Gln1437Arg) c.4250A>G (p.Gln1417Arg) c.4184A>G (p.Gln1395Arg) c.4181A>G (p.Gln1394Arg) c.4172A>G (p.Gln1391Arg) c.4115A>G (p.Gln1372Arg) c.3998A>G (p.Gln1333Arg) | gnomAD v4 |
3 | g.77644881A>T | CA353533892 | ROBO2 | c.4307A>T (p.Gln1436Leu) c.4298A>T (p.Gln1433Leu) c.4193A>T (p.Gln1398Leu) c.4385A>T (p.Gln1462Leu) c.*1055A>T (n.*1055A>T) c.4397A>T (p.Gln1466Leu) c.4571A>T (p.Gln1524Leu) c.*2545A>T (n.*2545A>T) c.4238A>T (p.Gln1413Leu) c.653A>T (p.Gln218Leu) c.4295A>T (p.Gln1432Leu) c.4112A>T (p.Gln1371Leu) n.6100A>T c.*2556A>T (n.*2556A>T) c.606A>T c.4160A>T (p.Gln1387Leu) c.570A>T c.3728A>T (p.Gln1243Leu) c.4124A>T (p.Gln1375Leu) c.2333A>T (p.Gln778Leu) c.4775A>T (p.Gln1592Leu) c.4649A>T (p.Gln1550Leu) c.4592A>T (p.Gln1531Leu) c.4319A>T (p.Gln1440Leu) c.4706A>T (p.Gln1569Leu) c.4640A>T (p.Gln1547Leu) c.4580A>T (p.Gln1527Leu) c.4466A>T (p.Gln1489Leu) c.4445A>T (p.Gln1482Leu) c.4310A>T (p.Gln1437Leu) c.4250A>T (p.Gln1417Leu) c.4184A>T (p.Gln1395Leu) c.4181A>T (p.Gln1394Leu) c.4172A>T (p.Gln1391Leu) c.4115A>T (p.Gln1372Leu) c.3998A>T (p.Gln1333Leu) | |
3 | g.77644882dup | CA544501986 | ROBO2 | c.4308dup (p.Gly1437ArgfsTer6) c.4299dup (p.Gly1434ArgfsTer16) c.4194dup (p.Gly1399ArgfsTer16) c.4386dup (p.Gly1463ArgfsTer6) c.*1056dup (n.*1056dup) c.4398dup (p.Gly1467ArgfsTer6) c.4299dup (p.Gly1434ArgfsTer6) c.4572dup (p.Gly1525ArgfsTer6) c.*2546dup (n.*2546dup) c.4239dup (p.Gly1414ArgfsTer6) c.654dup (p.Gly219ArgfsTer16) c.4296dup (p.Gly1433ArgfsTer6) c.4113dup (p.Gly1372ArgfsTer6) n.6101dup c.*2557dup (n.*2557dup) c.607dup c.4161dup (p.Gly1388ArgfsTer6) c.571dup c.3729dup (p.Gly1244ArgfsTer6) c.4125dup (p.Gly1376ArgfsTer6) c.2334dup (p.Gly779ArgfsTer6) c.4776dup (p.Gly1593ArgfsTer16) c.4650dup (p.Gly1551ArgfsTer6) c.4593dup (p.Gly1532ArgfsTer6) c.4320dup (p.Gly1441ArgfsTer6) c.4194dup (p.Gly1399ArgfsTer6) c.4707dup (p.Gly1570ArgfsTer6) c.4641dup (p.Gly1548ArgfsTer6) c.4593dup (p.Gly1532ArgfsTer16) c.4581dup (p.Gly1528ArgfsTer6) c.4467dup (p.Gly1490ArgfsTer6) c.4446dup (p.Gly1483ArgfsTer6) c.4320dup (p.Gly1441ArgfsTer16) c.4311dup (p.Gly1438ArgfsTer16) c.4251dup (p.Gly1418ArgfsTer6) c.4251dup (p.Gly1418ArgfsTer16) c.4185dup (p.Gly1396ArgfsTer6) c.4182dup (p.Gly1395ArgfsTer6) c.4173dup (p.Gly1392ArgfsTer6) c.4173dup (p.Gly1392ArgfsTer16) c.4116dup (p.Gly1373ArgfsTer6) c.3999dup (p.Gly1334ArgfsTer16) c.4308dup (p.Gly1437ArgfsTer16) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644882A= | CA1376777988 | ROBO2 | c.4308A= (p.Gln1436=) c.4299A= (p.Gln1433=) c.4194A= (p.Gln1398=) c.4386A= (p.Gln1462=) c.*1056A= (n.*1056A=) c.4398A= (p.Gln1466=) c.4572A= (p.Gln1524=) c.*2546A= (n.*2546A=) c.4239A= (p.Gln1413=) c.654A= (p.Gln218=) c.4296A= (p.Gln1432=) c.4113A= (p.Gln1371=) n.6101A= c.*2557A= (n.*2557A=) c.607A= c.4161A= (p.Gln1387=) c.571A= c.3729A= (p.Gln1243=) c.4125A= (p.Gln1375=) c.2334A= (p.Gln778=) c.4776A= (p.Gln1592=) c.4650A= (p.Gln1550=) c.4593A= (p.Gln1531=) c.4320A= (p.Gln1440=) c.4707A= (p.Gln1569=) c.4641A= (p.Gln1547=) c.4581A= (p.Gln1527=) c.4467A= (p.Gln1489=) c.4446A= (p.Gln1482=) c.4311A= (p.Gln1437=) c.4251A= (p.Gln1417=) c.4185A= (p.Gln1395=) c.4182A= (p.Gln1394=) c.4173A= (p.Gln1391=) c.4116A= (p.Gln1372=) c.3999A= (p.Gln1333=) | |
3 | g.77644882A>C | CA353533899 | ROBO2 | c.4308A>C (p.Gln1436His) c.4299A>C (p.Gln1433His) c.4194A>C (p.Gln1398His) c.4386A>C (p.Gln1462His) c.*1056A>C (n.*1056A>C) c.4398A>C (p.Gln1466His) c.4572A>C (p.Gln1524His) c.*2546A>C (n.*2546A>C) c.4239A>C (p.Gln1413His) c.654A>C (p.Gln218His) c.4296A>C (p.Gln1432His) c.4113A>C (p.Gln1371His) n.6101A>C c.*2557A>C (n.*2557A>C) c.607A>C c.4161A>C (p.Gln1387His) c.571A>C c.3729A>C (p.Gln1243His) c.4125A>C (p.Gln1375His) c.2334A>C (p.Gln778His) c.4776A>C (p.Gln1592His) c.4650A>C (p.Gln1550His) c.4593A>C (p.Gln1531His) c.4320A>C (p.Gln1440His) c.4707A>C (p.Gln1569His) c.4641A>C (p.Gln1547His) c.4581A>C (p.Gln1527His) c.4467A>C (p.Gln1489His) c.4446A>C (p.Gln1482His) c.4311A>C (p.Gln1437His) c.4251A>C (p.Gln1417His) c.4185A>C (p.Gln1395His) c.4182A>C (p.Gln1394His) c.4173A>C (p.Gln1391His) c.4116A>C (p.Gln1372His) c.3999A>C (p.Gln1333His) | |
3 | g.77644882A>G | CA2497847 | ROBO2 | c.4308A>G (p.Gln1436=) c.4299A>G (p.Gln1433=) c.4194A>G (p.Gln1398=) c.4386A>G (p.Gln1462=) c.*1056A>G (n.*1056A>G) c.4398A>G (p.Gln1466=) c.4572A>G (p.Gln1524=) c.*2546A>G (n.*2546A>G) c.4239A>G (p.Gln1413=) c.654A>G (p.Gln218=) c.4296A>G (p.Gln1432=) c.4113A>G (p.Gln1371=) n.6101A>G c.*2557A>G (n.*2557A>G) c.607A>G c.4161A>G (p.Gln1387=) c.571A>G c.3729A>G (p.Gln1243=) c.4125A>G (p.Gln1375=) c.2334A>G (p.Gln778=) c.4776A>G (p.Gln1592=) c.4650A>G (p.Gln1550=) c.4593A>G (p.Gln1531=) c.4320A>G (p.Gln1440=) c.4707A>G (p.Gln1569=) c.4641A>G (p.Gln1547=) c.4581A>G (p.Gln1527=) c.4467A>G (p.Gln1489=) c.4446A>G (p.Gln1482=) c.4311A>G (p.Gln1437=) c.4251A>G (p.Gln1417=) c.4185A>G (p.Gln1395=) c.4182A>G (p.Gln1394=) c.4173A>G (p.Gln1391=) c.4116A>G (p.Gln1372=) c.3999A>G (p.Gln1333=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77644882A>T | CA353533901 | ROBO2 | c.4308A>T (p.Gln1436His) c.4299A>T (p.Gln1433His) c.4194A>T (p.Gln1398His) c.4386A>T (p.Gln1462His) c.*1056A>T (n.*1056A>T) c.4398A>T (p.Gln1466His) c.4572A>T (p.Gln1524His) c.*2546A>T (n.*2546A>T) c.4239A>T (p.Gln1413His) c.654A>T (p.Gln218His) c.4296A>T (p.Gln1432His) c.4113A>T (p.Gln1371His) n.6101A>T c.*2557A>T (n.*2557A>T) c.607A>T c.4161A>T (p.Gln1387His) c.571A>T c.3729A>T (p.Gln1243His) c.4125A>T (p.Gln1375His) c.2334A>T (p.Gln778His) c.4776A>T (p.Gln1592His) c.4650A>T (p.Gln1550His) c.4593A>T (p.Gln1531His) c.4320A>T (p.Gln1440His) c.4707A>T (p.Gln1569His) c.4641A>T (p.Gln1547His) c.4581A>T (p.Gln1527His) c.4467A>T (p.Gln1489His) c.4446A>T (p.Gln1482His) c.4311A>T (p.Gln1437His) c.4251A>T (p.Gln1417His) c.4185A>T (p.Gln1395His) c.4182A>T (p.Gln1394His) c.4173A>T (p.Gln1391His) c.4116A>T (p.Gln1372His) c.3999A>T (p.Gln1333His) | |
3 | g.77644883G>A | CA353533904 | ROBO2 | c.4309G>A (p.Gly1437Arg) c.4300G>A (p.Gly1434Arg) c.4195G>A (p.Gly1399Arg) c.4387G>A (p.Gly1463Arg) c.*1057G>A (n.*1057G>A) c.4399G>A (p.Gly1467Arg) c.4573G>A (p.Gly1525Arg) c.*2547G>A (n.*2547G>A) c.4240G>A (p.Gly1414Arg) c.655G>A (p.Gly219Arg) c.4297G>A (p.Gly1433Arg) c.4114G>A (p.Gly1372Arg) n.6102G>A c.*2558G>A (n.*2558G>A) c.608G>A c.4162G>A (p.Gly1388Arg) c.572G>A c.3730G>A (p.Gly1244Arg) c.4126G>A (p.Gly1376Arg) c.2335G>A (p.Gly779Arg) c.4777G>A (p.Gly1593Arg) c.4651G>A (p.Gly1551Arg) c.4594G>A (p.Gly1532Arg) c.4321G>A (p.Gly1441Arg) c.4708G>A (p.Gly1570Arg) c.4642G>A (p.Gly1548Arg) c.4582G>A (p.Gly1528Arg) c.4468G>A (p.Gly1490Arg) c.4447G>A (p.Gly1483Arg) c.4312G>A (p.Gly1438Arg) c.4252G>A (p.Gly1418Arg) c.4186G>A (p.Gly1396Arg) c.4183G>A (p.Gly1395Arg) c.4174G>A (p.Gly1392Arg) c.4117G>A (p.Gly1373Arg) c.4000G>A (p.Gly1334Arg) | |
3 | g.77644883G>C | CA353533907 | ROBO2 | c.4309G>C (p.Gly1437Arg) c.4300G>C (p.Gly1434Arg) c.4195G>C (p.Gly1399Arg) c.4387G>C (p.Gly1463Arg) c.*1057G>C (n.*1057G>C) c.4399G>C (p.Gly1467Arg) c.4573G>C (p.Gly1525Arg) c.*2547G>C (n.*2547G>C) c.4240G>C (p.Gly1414Arg) c.655G>C (p.Gly219Arg) c.4297G>C (p.Gly1433Arg) c.4114G>C (p.Gly1372Arg) n.6102G>C c.*2558G>C (n.*2558G>C) c.608G>C c.4162G>C (p.Gly1388Arg) c.572G>C c.3730G>C (p.Gly1244Arg) c.4126G>C (p.Gly1376Arg) c.2335G>C (p.Gly779Arg) c.4777G>C (p.Gly1593Arg) c.4651G>C (p.Gly1551Arg) c.4594G>C (p.Gly1532Arg) c.4321G>C (p.Gly1441Arg) c.4708G>C (p.Gly1570Arg) c.4642G>C (p.Gly1548Arg) c.4582G>C (p.Gly1528Arg) c.4468G>C (p.Gly1490Arg) c.4447G>C (p.Gly1483Arg) c.4312G>C (p.Gly1438Arg) c.4252G>C (p.Gly1418Arg) c.4186G>C (p.Gly1396Arg) c.4183G>C (p.Gly1395Arg) c.4174G>C (p.Gly1392Arg) c.4117G>C (p.Gly1373Arg) c.4000G>C (p.Gly1334Arg) | |
3 | g.77644883G>T | CA353533906 | ROBO2 | c.4309G>T (p.Gly1437Ter) c.4300G>T (p.Gly1434Ter) c.4195G>T (p.Gly1399Ter) c.4387G>T (p.Gly1463Ter) c.*1057G>T (n.*1057G>T) c.4399G>T (p.Gly1467Ter) c.4573G>T (p.Gly1525Ter) c.*2547G>T (n.*2547G>T) c.4240G>T (p.Gly1414Ter) c.655G>T (p.Gly219Ter) c.4297G>T (p.Gly1433Ter) c.4114G>T (p.Gly1372Ter) n.6102G>T c.*2558G>T (n.*2558G>T) c.608G>T c.4162G>T (p.Gly1388Ter) c.572G>T c.3730G>T (p.Gly1244Ter) c.4126G>T (p.Gly1376Ter) c.2335G>T (p.Gly779Ter) c.4777G>T (p.Gly1593Ter) c.4651G>T (p.Gly1551Ter) c.4594G>T (p.Gly1532Ter) c.4321G>T (p.Gly1441Ter) c.4708G>T (p.Gly1570Ter) c.4642G>T (p.Gly1548Ter) c.4582G>T (p.Gly1528Ter) c.4468G>T (p.Gly1490Ter) c.4447G>T (p.Gly1483Ter) c.4312G>T (p.Gly1438Ter) c.4252G>T (p.Gly1418Ter) c.4186G>T (p.Gly1396Ter) c.4183G>T (p.Gly1395Ter) c.4174G>T (p.Gly1392Ter) c.4117G>T (p.Gly1373Ter) c.4000G>T (p.Gly1334Ter) | |
3 | g.77644884G>A | CA353533910 | ROBO2 | c.4310G>A (p.Gly1437Glu) c.4301G>A (p.Gly1434Glu) c.4196G>A (p.Gly1399Glu) c.4388G>A (p.Gly1463Glu) c.*1058G>A (n.*1058G>A) c.4400G>A (p.Gly1467Glu) c.4574G>A (p.Gly1525Glu) c.*2548G>A (n.*2548G>A) c.4241G>A (p.Gly1414Glu) c.656G>A (p.Gly219Glu) c.4298G>A (p.Gly1433Glu) c.4115G>A (p.Gly1372Glu) n.6103G>A c.*2559G>A (n.*2559G>A) c.609G>A c.4163G>A (p.Gly1388Glu) c.573G>A c.3731G>A (p.Gly1244Glu) c.4127G>A (p.Gly1376Glu) c.2336G>A (p.Gly779Glu) c.4778G>A (p.Gly1593Glu) c.4652G>A (p.Gly1551Glu) c.4595G>A (p.Gly1532Glu) c.4322G>A (p.Gly1441Glu) c.4709G>A (p.Gly1570Glu) c.4643G>A (p.Gly1548Glu) c.4583G>A (p.Gly1528Glu) c.4469G>A (p.Gly1490Glu) c.4448G>A (p.Gly1483Glu) c.4313G>A (p.Gly1438Glu) c.4253G>A (p.Gly1418Glu) c.4187G>A (p.Gly1396Glu) c.4184G>A (p.Gly1395Glu) c.4175G>A (p.Gly1392Glu) c.4118G>A (p.Gly1373Glu) c.4001G>A (p.Gly1334Glu) | gnomAD v4 |
3 | g.77644884G>C | CA353533913 | ROBO2 | c.4310G>C (p.Gly1437Ala) c.4301G>C (p.Gly1434Ala) c.4196G>C (p.Gly1399Ala) c.4388G>C (p.Gly1463Ala) c.*1058G>C (n.*1058G>C) c.4400G>C (p.Gly1467Ala) c.4574G>C (p.Gly1525Ala) c.*2548G>C (n.*2548G>C) c.4241G>C (p.Gly1414Ala) c.656G>C (p.Gly219Ala) c.4298G>C (p.Gly1433Ala) c.4115G>C (p.Gly1372Ala) n.6103G>C c.*2559G>C (n.*2559G>C) c.609G>C c.4163G>C (p.Gly1388Ala) c.573G>C c.3731G>C (p.Gly1244Ala) c.4127G>C (p.Gly1376Ala) c.2336G>C (p.Gly779Ala) c.4778G>C (p.Gly1593Ala) c.4652G>C (p.Gly1551Ala) c.4595G>C (p.Gly1532Ala) c.4322G>C (p.Gly1441Ala) c.4709G>C (p.Gly1570Ala) c.4643G>C (p.Gly1548Ala) c.4583G>C (p.Gly1528Ala) c.4469G>C (p.Gly1490Ala) c.4448G>C (p.Gly1483Ala) c.4313G>C (p.Gly1438Ala) c.4253G>C (p.Gly1418Ala) c.4187G>C (p.Gly1396Ala) c.4184G>C (p.Gly1395Ala) c.4175G>C (p.Gly1392Ala) c.4118G>C (p.Gly1373Ala) c.4001G>C (p.Gly1334Ala) | |
3 | g.77644884G>T | CA353533912 | ROBO2 | c.4310G>T (p.Gly1437Val) c.4301G>T (p.Gly1434Val) c.4196G>T (p.Gly1399Val) c.4388G>T (p.Gly1463Val) c.*1058G>T (n.*1058G>T) c.4400G>T (p.Gly1467Val) c.4574G>T (p.Gly1525Val) c.*2548G>T (n.*2548G>T) c.4241G>T (p.Gly1414Val) c.656G>T (p.Gly219Val) c.4298G>T (p.Gly1433Val) c.4115G>T (p.Gly1372Val) n.6103G>T c.*2559G>T (n.*2559G>T) c.609G>T c.4163G>T (p.Gly1388Val) c.573G>T c.3731G>T (p.Gly1244Val) c.4127G>T (p.Gly1376Val) c.2336G>T (p.Gly779Val) c.4778G>T (p.Gly1593Val) c.4652G>T (p.Gly1551Val) c.4595G>T (p.Gly1532Val) c.4322G>T (p.Gly1441Val) c.4709G>T (p.Gly1570Val) c.4643G>T (p.Gly1548Val) c.4583G>T (p.Gly1528Val) c.4469G>T (p.Gly1490Val) c.4448G>T (p.Gly1483Val) c.4313G>T (p.Gly1438Val) c.4253G>T (p.Gly1418Val) c.4187G>T (p.Gly1396Val) c.4184G>T (p.Gly1395Val) c.4175G>T (p.Gly1392Val) c.4118G>T (p.Gly1373Val) c.4001G>T (p.Gly1334Val) | |
3 | g.77644885A= | CA1376777989 | ROBO2 | c.4311A= (p.Gly1437=) c.4302A= (p.Gly1434=) c.4197A= (p.Gly1399=) c.4389A= (p.Gly1463=) c.*1059A= (n.*1059A=) c.4401A= (p.Gly1467=) c.4575A= (p.Gly1525=) c.*2549A= (n.*2549A=) c.4242A= (p.Gly1414=) c.657A= (p.Gly219=) c.4299A= (p.Gly1433=) c.4116A= (p.Gly1372=) n.6104A= c.*2560A= (n.*2560A=) c.610A= c.4164A= (p.Gly1388=) c.574A= c.3732A= (p.Gly1244=) c.4128A= (p.Gly1376=) c.2337A= (p.Gly779=) c.4779A= (p.Gly1593=) c.4653A= (p.Gly1551=) c.4596A= (p.Gly1532=) c.4323A= (p.Gly1441=) c.4710A= (p.Gly1570=) c.4644A= (p.Gly1548=) c.4584A= (p.Gly1528=) c.4470A= (p.Gly1490=) c.4449A= (p.Gly1483=) c.4314A= (p.Gly1438=) c.4254A= (p.Gly1418=) c.4188A= (p.Gly1396=) c.4185A= (p.Gly1395=) c.4176A= (p.Gly1392=) c.4119A= (p.Gly1373=) c.4002A= (p.Gly1334=) | |
3 | g.77644885A>C | CA434435386 | ROBO2 | c.4311A>C (p.Gly1437=) c.4302A>C (p.Gly1434=) c.4197A>C (p.Gly1399=) c.4389A>C (p.Gly1463=) c.*1059A>C (n.*1059A>C) c.4401A>C (p.Gly1467=) c.4575A>C (p.Gly1525=) c.*2549A>C (n.*2549A>C) c.4242A>C (p.Gly1414=) c.657A>C (p.Gly219=) c.4299A>C (p.Gly1433=) c.4116A>C (p.Gly1372=) n.6104A>C c.*2560A>C (n.*2560A>C) c.610A>C c.4164A>C (p.Gly1388=) c.574A>C c.3732A>C (p.Gly1244=) c.4128A>C (p.Gly1376=) c.2337A>C (p.Gly779=) c.4779A>C (p.Gly1593=) c.4653A>C (p.Gly1551=) c.4596A>C (p.Gly1532=) c.4323A>C (p.Gly1441=) c.4710A>C (p.Gly1570=) c.4644A>C (p.Gly1548=) c.4584A>C (p.Gly1528=) c.4470A>C (p.Gly1490=) c.4449A>C (p.Gly1483=) c.4314A>C (p.Gly1438=) c.4254A>C (p.Gly1418=) c.4188A>C (p.Gly1396=) c.4185A>C (p.Gly1395=) c.4176A>C (p.Gly1392=) c.4119A>C (p.Gly1373=) c.4002A>C (p.Gly1334=) | |
3 | g.77644885A>G | CA434435389 | ROBO2 | c.4311A>G (p.Gly1437=) c.4302A>G (p.Gly1434=) c.4197A>G (p.Gly1399=) c.4389A>G (p.Gly1463=) c.*1059A>G (n.*1059A>G) c.4401A>G (p.Gly1467=) c.4575A>G (p.Gly1525=) c.*2549A>G (n.*2549A>G) c.4242A>G (p.Gly1414=) c.657A>G (p.Gly219=) c.4299A>G (p.Gly1433=) c.4116A>G (p.Gly1372=) n.6104A>G c.*2560A>G (n.*2560A>G) c.610A>G c.4164A>G (p.Gly1388=) c.574A>G c.3732A>G (p.Gly1244=) c.4128A>G (p.Gly1376=) c.2337A>G (p.Gly779=) c.4779A>G (p.Gly1593=) c.4653A>G (p.Gly1551=) c.4596A>G (p.Gly1532=) c.4323A>G (p.Gly1441=) c.4710A>G (p.Gly1570=) c.4644A>G (p.Gly1548=) c.4584A>G (p.Gly1528=) c.4470A>G (p.Gly1490=) c.4449A>G (p.Gly1483=) c.4314A>G (p.Gly1438=) c.4254A>G (p.Gly1418=) c.4188A>G (p.Gly1396=) c.4185A>G (p.Gly1395=) c.4176A>G (p.Gly1392=) c.4119A>G (p.Gly1373=) c.4002A>G (p.Gly1334=) | |
3 | g.77644885A>T | CA434435387 | ROBO2 | c.4311A>T (p.Gly1437=) c.4302A>T (p.Gly1434=) c.4197A>T (p.Gly1399=) c.4389A>T (p.Gly1463=) c.*1059A>T (n.*1059A>T) c.4401A>T (p.Gly1467=) c.4575A>T (p.Gly1525=) c.*2549A>T (n.*2549A>T) c.4242A>T (p.Gly1414=) c.657A>T (p.Gly219=) c.4299A>T (p.Gly1433=) c.4116A>T (p.Gly1372=) n.6104A>T c.*2560A>T (n.*2560A>T) c.610A>T c.4164A>T (p.Gly1388=) c.574A>T c.3732A>T (p.Gly1244=) c.4128A>T (p.Gly1376=) c.2337A>T (p.Gly779=) c.4779A>T (p.Gly1593=) c.4653A>T (p.Gly1551=) c.4596A>T (p.Gly1532=) c.4323A>T (p.Gly1441=) c.4710A>T (p.Gly1570=) c.4644A>T (p.Gly1548=) c.4584A>T (p.Gly1528=) c.4470A>T (p.Gly1490=) c.4449A>T (p.Gly1483=) c.4314A>T (p.Gly1438=) c.4254A>T (p.Gly1418=) c.4188A>T (p.Gly1396=) c.4185A>T (p.Gly1395=) c.4176A>T (p.Gly1392=) c.4119A>T (p.Gly1373=) c.4002A>T (p.Gly1334=) | gnomAD v4 |
3 | g.77644885_77644886insGCC | CA544501987 | ROBO2 | c.4311_4312insGCC (p.Gly1437_Gln1438insAla) c.4302_4303insGCC (p.Gly1434_Gln1435insAla) c.4197_4198insGCC (p.Gly1399_Gln1400insAla) c.4389_4390insGCC (p.Gly1463_Gln1464insAla) c.*1059_*1060insGCC (n.*1059_*1060insGCC) c.4401_4402insGCC (p.Gly1467_Gln1468insAla) c.4575_4576insGCC (p.Gly1525_Gln1526insAla) c.*2549_*2550insGCC (n.*2549_*2550insGCC) c.4242_4243insGCC (p.Gly1414_Gln1415insAla) c.657_658insGCC (p.Gly219_Gln220insAla) c.4299_4300insGCC (p.Gly1433_Gln1434insAla) c.4116_4117insGCC (p.Gly1372_Gln1373insAla) n.6104_6105insGCC c.*2560_*2561insGCC (n.*2560_*2561insGCC) c.610_611insGCC c.4164_4165insGCC (p.Gly1388_Gln1389insAla) c.574_575insGCC c.3732_3733insGCC (p.Gly1244_Gln1245insAla) c.4128_4129insGCC (p.Gly1376_Gln1377insAla) c.2337_2338insGCC (p.Gly779_Gln780insAla) c.4779_4780insGCC (p.Gly1593_Gln1594insAla) c.4653_4654insGCC (p.Gly1551_Gln1552insAla) c.4596_4597insGCC (p.Gly1532_Gln1533insAla) c.4323_4324insGCC (p.Gly1441_Gln1442insAla) c.4710_4711insGCC (p.Gly1570_Gln1571insAla) c.4644_4645insGCC (p.Gly1548_Gln1549insAla) c.4584_4585insGCC (p.Gly1528_Gln1529insAla) c.4470_4471insGCC (p.Gly1490_Gln1491insAla) c.4449_4450insGCC (p.Gly1483_Gln1484insAla) c.4314_4315insGCC (p.Gly1438_Gln1439insAla) c.4254_4255insGCC (p.Gly1418_Gln1419insAla) c.4188_4189insGCC (p.Gly1396_Gln1397insAla) c.4185_4186insGCC (p.Gly1395_Gln1396insAla) c.4176_4177insGCC (p.Gly1392_Gln1393insAla) c.4119_4120insGCC (p.Gly1373_Gln1374insAla) c.4002_4003insGCC (p.Gly1334_Gln1335insAla) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77644886C>A | CA353533916 | ROBO2 | c.4312C>A (p.Gln1438Lys) c.4303C>A (p.Gln1435Lys) c.4198C>A (p.Gln1400Lys) c.4390C>A (p.Gln1464Lys) c.*1060C>A (n.*1060C>A) c.4402C>A (p.Gln1468Lys) c.4576C>A (p.Gln1526Lys) c.*2550C>A (n.*2550C>A) c.4243C>A (p.Gln1415Lys) c.658C>A (p.Gln220Lys) c.4300C>A (p.Gln1434Lys) c.4117C>A (p.Gln1373Lys) n.6105C>A c.*2561C>A (n.*2561C>A) c.611C>A c.4165C>A (p.Gln1389Lys) c.575C>A c.3733C>A (p.Gln1245Lys) c.4129C>A (p.Gln1377Lys) c.2338C>A (p.Gln780Lys) c.4780C>A (p.Gln1594Lys) c.4654C>A (p.Gln1552Lys) c.4597C>A (p.Gln1533Lys) c.4324C>A (p.Gln1442Lys) c.4711C>A (p.Gln1571Lys) c.4645C>A (p.Gln1549Lys) c.4585C>A (p.Gln1529Lys) c.4471C>A (p.Gln1491Lys) c.4450C>A (p.Gln1484Lys) c.4315C>A (p.Gln1439Lys) c.4255C>A (p.Gln1419Lys) c.4189C>A (p.Gln1397Lys) c.4186C>A (p.Gln1396Lys) c.4177C>A (p.Gln1393Lys) c.4120C>A (p.Gln1374Lys) c.4003C>A (p.Gln1335Lys) | |
3 | g.77644886C= | CA1376777990 | ROBO2 | c.4312C= (p.Gln1438=) c.4303C= (p.Gln1435=) c.4198C= (p.Gln1400=) c.4390C= (p.Gln1464=) c.*1060C= (n.*1060C=) c.4402C= (p.Gln1468=) c.4576C= (p.Gln1526=) c.*2550C= (n.*2550C=) c.4243C= (p.Gln1415=) c.658C= (p.Gln220=) c.4300C= (p.Gln1434=) c.4117C= (p.Gln1373=) n.6105C= c.*2561C= (n.*2561C=) c.611C= c.4165C= (p.Gln1389=) c.575C= c.3733C= (p.Gln1245=) c.4129C= (p.Gln1377=) c.2338C= (p.Gln780=) c.4780C= (p.Gln1594=) c.4654C= (p.Gln1552=) c.4597C= (p.Gln1533=) c.4324C= (p.Gln1442=) c.4711C= (p.Gln1571=) c.4645C= (p.Gln1549=) c.4585C= (p.Gln1529=) c.4471C= (p.Gln1491=) c.4450C= (p.Gln1484=) c.4315C= (p.Gln1439=) c.4255C= (p.Gln1419=) c.4189C= (p.Gln1397=) c.4186C= (p.Gln1396=) c.4177C= (p.Gln1393=) c.4120C= (p.Gln1374=) c.4003C= (p.Gln1335=) | |
3 | g.77644886C>G | CA2497849 | ROBO2 | c.4312C>G (p.Gln1438Glu) c.4303C>G (p.Gln1435Glu) c.4198C>G (p.Gln1400Glu) c.4390C>G (p.Gln1464Glu) c.*1060C>G (n.*1060C>G) c.4402C>G (p.Gln1468Glu) c.4576C>G (p.Gln1526Glu) c.*2550C>G (n.*2550C>G) c.4243C>G (p.Gln1415Glu) c.658C>G (p.Gln220Glu) c.4300C>G (p.Gln1434Glu) c.4117C>G (p.Gln1373Glu) n.6105C>G c.*2561C>G (n.*2561C>G) c.611C>G c.4165C>G (p.Gln1389Glu) c.575C>G c.3733C>G (p.Gln1245Glu) c.4129C>G (p.Gln1377Glu) c.2338C>G (p.Gln780Glu) c.4780C>G (p.Gln1594Glu) c.4654C>G (p.Gln1552Glu) c.4597C>G (p.Gln1533Glu) c.4324C>G (p.Gln1442Glu) c.4711C>G (p.Gln1571Glu) c.4645C>G (p.Gln1549Glu) c.4585C>G (p.Gln1529Glu) c.4471C>G (p.Gln1491Glu) c.4450C>G (p.Gln1484Glu) c.4315C>G (p.Gln1439Glu) c.4255C>G (p.Gln1419Glu) c.4189C>G (p.Gln1397Glu) c.4186C>G (p.Gln1396Glu) c.4177C>G (p.Gln1393Glu) c.4120C>G (p.Gln1374Glu) c.4003C>G (p.Gln1335Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644886C>T | CA2497848 | ROBO2 | c.4312C>T (p.Gln1438Ter) c.4303C>T (p.Gln1435Ter) c.4198C>T (p.Gln1400Ter) c.4390C>T (p.Gln1464Ter) c.*1060C>T (n.*1060C>T) c.4402C>T (p.Gln1468Ter) c.4576C>T (p.Gln1526Ter) c.*2550C>T (n.*2550C>T) c.4243C>T (p.Gln1415Ter) c.658C>T (p.Gln220Ter) c.4300C>T (p.Gln1434Ter) c.4117C>T (p.Gln1373Ter) n.6105C>T c.*2561C>T (n.*2561C>T) c.611C>T c.4165C>T (p.Gln1389Ter) c.575C>T c.3733C>T (p.Gln1245Ter) c.4129C>T (p.Gln1377Ter) c.2338C>T (p.Gln780Ter) c.4780C>T (p.Gln1594Ter) c.4654C>T (p.Gln1552Ter) c.4597C>T (p.Gln1533Ter) c.4324C>T (p.Gln1442Ter) c.4711C>T (p.Gln1571Ter) c.4645C>T (p.Gln1549Ter) c.4585C>T (p.Gln1529Ter) c.4471C>T (p.Gln1491Ter) c.4450C>T (p.Gln1484Ter) c.4315C>T (p.Gln1439Ter) c.4255C>T (p.Gln1419Ter) c.4189C>T (p.Gln1397Ter) c.4186C>T (p.Gln1396Ter) c.4177C>T (p.Gln1393Ter) c.4120C>T (p.Gln1374Ter) c.4003C>T (p.Gln1335Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644887A= | CA1376777991 | ROBO2 | c.4313A= (p.Gln1438=) c.4304A= (p.Gln1435=) c.4199A= (p.Gln1400=) c.4391A= (p.Gln1464=) c.*1061A= (n.*1061A=) c.4403A= (p.Gln1468=) c.4577A= (p.Gln1526=) c.*2551A= (n.*2551A=) c.4244A= (p.Gln1415=) c.659A= (p.Gln220=) c.4301A= (p.Gln1434=) c.4118A= (p.Gln1373=) n.6106A= c.*2562A= (n.*2562A=) c.612A= c.4166A= (p.Gln1389=) c.576A= c.3734A= (p.Gln1245=) c.4130A= (p.Gln1377=) c.2339A= (p.Gln780=) c.4781A= (p.Gln1594=) c.4655A= (p.Gln1552=) c.4598A= (p.Gln1533=) c.4325A= (p.Gln1442=) c.4712A= (p.Gln1571=) c.4646A= (p.Gln1549=) c.4586A= (p.Gln1529=) c.4472A= (p.Gln1491=) c.4451A= (p.Gln1484=) c.4316A= (p.Gln1439=) c.4256A= (p.Gln1419=) c.4190A= (p.Gln1397=) c.4187A= (p.Gln1396=) c.4178A= (p.Gln1393=) c.4121A= (p.Gln1374=) c.4004A= (p.Gln1335=) | |
3 | g.77644887A>C | CA353533920 | ROBO2 | c.4313A>C (p.Gln1438Pro) c.4304A>C (p.Gln1435Pro) c.4199A>C (p.Gln1400Pro) c.4391A>C (p.Gln1464Pro) c.*1061A>C (n.*1061A>C) c.4403A>C (p.Gln1468Pro) c.4577A>C (p.Gln1526Pro) c.*2551A>C (n.*2551A>C) c.4244A>C (p.Gln1415Pro) c.659A>C (p.Gln220Pro) c.4301A>C (p.Gln1434Pro) c.4118A>C (p.Gln1373Pro) n.6106A>C c.*2562A>C (n.*2562A>C) c.612A>C c.4166A>C (p.Gln1389Pro) c.576A>C c.3734A>C (p.Gln1245Pro) c.4130A>C (p.Gln1377Pro) c.2339A>C (p.Gln780Pro) c.4781A>C (p.Gln1594Pro) c.4655A>C (p.Gln1552Pro) c.4598A>C (p.Gln1533Pro) c.4325A>C (p.Gln1442Pro) c.4712A>C (p.Gln1571Pro) c.4646A>C (p.Gln1549Pro) c.4586A>C (p.Gln1529Pro) c.4472A>C (p.Gln1491Pro) c.4451A>C (p.Gln1484Pro) c.4316A>C (p.Gln1439Pro) c.4256A>C (p.Gln1419Pro) c.4190A>C (p.Gln1397Pro) c.4187A>C (p.Gln1396Pro) c.4178A>C (p.Gln1393Pro) c.4121A>C (p.Gln1374Pro) c.4004A>C (p.Gln1335Pro) | |
3 | g.77644887A>G | CA353533922 | ROBO2 | c.4313A>G (p.Gln1438Arg) c.4304A>G (p.Gln1435Arg) c.4199A>G (p.Gln1400Arg) c.4391A>G (p.Gln1464Arg) c.*1061A>G (n.*1061A>G) c.4403A>G (p.Gln1468Arg) c.4577A>G (p.Gln1526Arg) c.*2551A>G (n.*2551A>G) c.4244A>G (p.Gln1415Arg) c.659A>G (p.Gln220Arg) c.4301A>G (p.Gln1434Arg) c.4118A>G (p.Gln1373Arg) n.6106A>G c.*2562A>G (n.*2562A>G) c.612A>G c.4166A>G (p.Gln1389Arg) c.576A>G c.3734A>G (p.Gln1245Arg) c.4130A>G (p.Gln1377Arg) c.2339A>G (p.Gln780Arg) c.4781A>G (p.Gln1594Arg) c.4655A>G (p.Gln1552Arg) c.4598A>G (p.Gln1533Arg) c.4325A>G (p.Gln1442Arg) c.4712A>G (p.Gln1571Arg) c.4646A>G (p.Gln1549Arg) c.4586A>G (p.Gln1529Arg) c.4472A>G (p.Gln1491Arg) c.4451A>G (p.Gln1484Arg) c.4316A>G (p.Gln1439Arg) c.4256A>G (p.Gln1419Arg) c.4190A>G (p.Gln1397Arg) c.4187A>G (p.Gln1396Arg) c.4178A>G (p.Gln1393Arg) c.4121A>G (p.Gln1374Arg) c.4004A>G (p.Gln1335Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77644887A>T | CA353533923 | ROBO2 | c.4313A>T (p.Gln1438Leu) c.4304A>T (p.Gln1435Leu) c.4199A>T (p.Gln1400Leu) c.4391A>T (p.Gln1464Leu) c.*1061A>T (n.*1061A>T) c.4403A>T (p.Gln1468Leu) c.4577A>T (p.Gln1526Leu) c.*2551A>T (n.*2551A>T) c.4244A>T (p.Gln1415Leu) c.659A>T (p.Gln220Leu) c.4301A>T (p.Gln1434Leu) c.4118A>T (p.Gln1373Leu) n.6106A>T c.*2562A>T (n.*2562A>T) c.612A>T c.4166A>T (p.Gln1389Leu) c.576A>T c.3734A>T (p.Gln1245Leu) c.4130A>T (p.Gln1377Leu) c.2339A>T (p.Gln780Leu) c.4781A>T (p.Gln1594Leu) c.4655A>T (p.Gln1552Leu) c.4598A>T (p.Gln1533Leu) c.4325A>T (p.Gln1442Leu) c.4712A>T (p.Gln1571Leu) c.4646A>T (p.Gln1549Leu) c.4586A>T (p.Gln1529Leu) c.4472A>T (p.Gln1491Leu) c.4451A>T (p.Gln1484Leu) c.4316A>T (p.Gln1439Leu) c.4256A>T (p.Gln1419Leu) c.4190A>T (p.Gln1397Leu) c.4187A>T (p.Gln1396Leu) c.4178A>T (p.Gln1393Leu) c.4121A>T (p.Gln1374Leu) c.4004A>T (p.Gln1335Leu) | |
3 | g.77644887_77644888insTATAT | CA1376777992 | ROBO2 | c.4313_4314insTATAT (p.Gln1438HisfsTer11) c.4304_4305insTATAT (p.Gln1435HisfsTer8) c.4199_4200insTATAT (p.Gln1400HisfsTer8) c.4391_4392insTATAT (p.Gln1464HisfsTer11) c.*1061_*1062insTATAT (n.*1061_*1062insTATAT) c.4403_4404insTATAT (p.Gln1468HisfsTer11) c.4304_4305insTATAT (p.Gln1435HisfsTer11) c.4577_4578insTATAT (p.Gln1526HisfsTer11) c.*2551_*2552insTATAT (n.*2551_*2552insTATAT) c.4244_4245insTATAT (p.Gln1415HisfsTer11) c.659_660insTATAT (p.Gln220HisfsTer8) c.4301_4302insTATAT (p.Gln1434HisfsTer11) c.4118_4119insTATAT (p.Gln1373HisfsTer11) n.6106_6107insTATAT c.*2562_*2563insTATAT (n.*2562_*2563insTATAT) c.612_613insTATAT c.4166_4167insTATAT (p.Gln1389HisfsTer11) c.576_577insTATAT c.3734_3735insTATAT (p.Gln1245HisfsTer11) c.4130_4131insTATAT (p.Gln1377HisfsTer11) c.2339_2340insTATAT (p.Gln780HisfsTer11) c.4781_4782insTATAT (p.Gln1594HisfsTer8) c.4655_4656insTATAT (p.Gln1552HisfsTer11) c.4598_4599insTATAT (p.Gln1533HisfsTer11) c.4325_4326insTATAT (p.Gln1442HisfsTer11) c.4199_4200insTATAT (p.Gln1400HisfsTer11) c.4712_4713insTATAT (p.Gln1571HisfsTer11) c.4646_4647insTATAT (p.Gln1549HisfsTer11) c.4598_4599insTATAT (p.Gln1533HisfsTer8) c.4586_4587insTATAT (p.Gln1529HisfsTer11) c.4472_4473insTATAT (p.Gln1491HisfsTer11) c.4451_4452insTATAT (p.Gln1484HisfsTer11) c.4325_4326insTATAT (p.Gln1442HisfsTer8) c.4316_4317insTATAT (p.Gln1439HisfsTer8) c.4256_4257insTATAT (p.Gln1419HisfsTer11) c.4256_4257insTATAT (p.Gln1419HisfsTer8) c.4190_4191insTATAT (p.Gln1397HisfsTer11) c.4187_4188insTATAT (p.Gln1396HisfsTer11) c.4178_4179insTATAT (p.Gln1393HisfsTer11) c.4178_4179insTATAT (p.Gln1393HisfsTer8) c.4121_4122insTATAT (p.Gln1374HisfsTer11) c.4004_4005insTATAT (p.Gln1335HisfsTer8) c.4313_4314insTATAT (p.Gln1438HisfsTer8) | dbSNP gnomAD v4 |
3 | g.77644888G>A | CA2497850 | ROBO2 | c.4314G>A (p.Gln1438=) c.4305G>A (p.Gln1435=) c.4200G>A (p.Gln1400=) c.4392G>A (p.Gln1464=) c.*1062G>A (n.*1062G>A) c.4404G>A (p.Gln1468=) c.4578G>A (p.Gln1526=) c.*2552G>A (n.*2552G>A) c.4245G>A (p.Gln1415=) c.660G>A (p.Gln220=) c.4302G>A (p.Gln1434=) c.4119G>A (p.Gln1373=) n.6107G>A c.*2563G>A (n.*2563G>A) c.613G>A c.4167G>A (p.Gln1389=) c.577G>A c.3735G>A (p.Gln1245=) c.4131G>A (p.Gln1377=) c.2340G>A (p.Gln780=) c.4782G>A (p.Gln1594=) c.4656G>A (p.Gln1552=) c.4599G>A (p.Gln1533=) c.4326G>A (p.Gln1442=) c.4713G>A (p.Gln1571=) c.4647G>A (p.Gln1549=) c.4587G>A (p.Gln1529=) c.4473G>A (p.Gln1491=) c.4452G>A (p.Gln1484=) c.4317G>A (p.Gln1439=) c.4257G>A (p.Gln1419=) c.4191G>A (p.Gln1397=) c.4188G>A (p.Gln1396=) c.4179G>A (p.Gln1393=) c.4122G>A (p.Gln1374=) c.4005G>A (p.Gln1335=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644888G>C | CA353533926 | ROBO2 | c.4314G>C (p.Gln1438His) c.4305G>C (p.Gln1435His) c.4200G>C (p.Gln1400His) c.4392G>C (p.Gln1464His) c.*1062G>C (n.*1062G>C) c.4404G>C (p.Gln1468His) c.4578G>C (p.Gln1526His) c.*2552G>C (n.*2552G>C) c.4245G>C (p.Gln1415His) c.660G>C (p.Gln220His) c.4302G>C (p.Gln1434His) c.4119G>C (p.Gln1373His) n.6107G>C c.*2563G>C (n.*2563G>C) c.613G>C c.4167G>C (p.Gln1389His) c.577G>C c.3735G>C (p.Gln1245His) c.4131G>C (p.Gln1377His) c.2340G>C (p.Gln780His) c.4782G>C (p.Gln1594His) c.4656G>C (p.Gln1552His) c.4599G>C (p.Gln1533His) c.4326G>C (p.Gln1442His) c.4713G>C (p.Gln1571His) c.4647G>C (p.Gln1549His) c.4587G>C (p.Gln1529His) c.4473G>C (p.Gln1491His) c.4452G>C (p.Gln1484His) c.4317G>C (p.Gln1439His) c.4257G>C (p.Gln1419His) c.4191G>C (p.Gln1397His) c.4188G>C (p.Gln1396His) c.4179G>C (p.Gln1393His) c.4122G>C (p.Gln1374His) c.4005G>C (p.Gln1335His) | |
3 | g.77644888G= | CA1376777993 | ROBO2 | c.4314G= (p.Gln1438=) c.4305G= (p.Gln1435=) c.4200G= (p.Gln1400=) c.4392G= (p.Gln1464=) c.*1062G= (n.*1062G=) c.4404G= (p.Gln1468=) c.4578G= (p.Gln1526=) c.*2552G= (n.*2552G=) c.4245G= (p.Gln1415=) c.660G= (p.Gln220=) c.4302G= (p.Gln1434=) c.4119G= (p.Gln1373=) n.6107G= c.*2563G= (n.*2563G=) c.613G= c.4167G= (p.Gln1389=) c.577G= c.3735G= (p.Gln1245=) c.4131G= (p.Gln1377=) c.2340G= (p.Gln780=) c.4782G= (p.Gln1594=) c.4656G= (p.Gln1552=) c.4599G= (p.Gln1533=) c.4326G= (p.Gln1442=) c.4713G= (p.Gln1571=) c.4647G= (p.Gln1549=) c.4587G= (p.Gln1529=) c.4473G= (p.Gln1491=) c.4452G= (p.Gln1484=) c.4317G= (p.Gln1439=) c.4257G= (p.Gln1419=) c.4191G= (p.Gln1397=) c.4188G= (p.Gln1396=) c.4179G= (p.Gln1393=) c.4122G= (p.Gln1374=) c.4005G= (p.Gln1335=) | |
3 | g.77644888G>T | CA353533927 | ROBO2 | c.4314G>T (p.Gln1438His) c.4305G>T (p.Gln1435His) c.4200G>T (p.Gln1400His) c.4392G>T (p.Gln1464His) c.*1062G>T (n.*1062G>T) c.4404G>T (p.Gln1468His) c.4578G>T (p.Gln1526His) c.*2552G>T (n.*2552G>T) c.4245G>T (p.Gln1415His) c.660G>T (p.Gln220His) c.4302G>T (p.Gln1434His) c.4119G>T (p.Gln1373His) n.6107G>T c.*2563G>T (n.*2563G>T) c.613G>T c.4167G>T (p.Gln1389His) c.577G>T c.3735G>T (p.Gln1245His) c.4131G>T (p.Gln1377His) c.2340G>T (p.Gln780His) c.4782G>T (p.Gln1594His) c.4656G>T (p.Gln1552His) c.4599G>T (p.Gln1533His) c.4326G>T (p.Gln1442His) c.4713G>T (p.Gln1571His) c.4647G>T (p.Gln1549His) c.4587G>T (p.Gln1529His) c.4473G>T (p.Gln1491His) c.4452G>T (p.Gln1484His) c.4317G>T (p.Gln1439His) c.4257G>T (p.Gln1419His) c.4191G>T (p.Gln1397His) c.4188G>T (p.Gln1396His) c.4179G>T (p.Gln1393His) c.4122G>T (p.Gln1374His) c.4005G>T (p.Gln1335His) | |
3 | g.77644889T>A | CA77532997 | ROBO2 | c.4315T>A (p.Phe1439Ile) c.4306T>A (p.Phe1436Ile) c.4201T>A (p.Phe1401Ile) c.4393T>A (p.Phe1465Ile) c.*1063T>A (n.*1063T>A) c.4405T>A (p.Phe1469Ile) c.4579T>A (p.Phe1527Ile) c.*2553T>A (n.*2553T>A) c.4246T>A (p.Phe1416Ile) c.661T>A (p.Phe221Ile) c.4303T>A (p.Phe1435Ile) c.4120T>A (p.Phe1374Ile) n.6108T>A c.*2564T>A (n.*2564T>A) c.614T>A c.4168T>A (p.Phe1390Ile) c.578T>A c.3736T>A (p.Phe1246Ile) c.4132T>A (p.Phe1378Ile) c.2341T>A (p.Phe781Ile) c.4783T>A (p.Phe1595Ile) c.4657T>A (p.Phe1553Ile) c.4600T>A (p.Phe1534Ile) c.4327T>A (p.Phe1443Ile) c.4714T>A (p.Phe1572Ile) c.4648T>A (p.Phe1550Ile) c.4588T>A (p.Phe1530Ile) c.4474T>A (p.Phe1492Ile) c.4453T>A (p.Phe1485Ile) c.4318T>A (p.Phe1440Ile) c.4258T>A (p.Phe1420Ile) c.4192T>A (p.Phe1398Ile) c.4189T>A (p.Phe1397Ile) c.4180T>A (p.Phe1394Ile) c.4123T>A (p.Phe1375Ile) c.4006T>A (p.Phe1336Ile) | dbSNP |
3 | g.77644889T>C | CA353533929 | ROBO2 | c.4315T>C (p.Phe1439Leu) c.4306T>C (p.Phe1436Leu) c.4201T>C (p.Phe1401Leu) c.4393T>C (p.Phe1465Leu) c.*1063T>C (n.*1063T>C) c.4405T>C (p.Phe1469Leu) c.4579T>C (p.Phe1527Leu) c.*2553T>C (n.*2553T>C) c.4246T>C (p.Phe1416Leu) c.661T>C (p.Phe221Leu) c.4303T>C (p.Phe1435Leu) c.4120T>C (p.Phe1374Leu) n.6108T>C c.*2564T>C (n.*2564T>C) c.614T>C c.4168T>C (p.Phe1390Leu) c.578T>C c.3736T>C (p.Phe1246Leu) c.4132T>C (p.Phe1378Leu) c.2341T>C (p.Phe781Leu) c.4783T>C (p.Phe1595Leu) c.4657T>C (p.Phe1553Leu) c.4600T>C (p.Phe1534Leu) c.4327T>C (p.Phe1443Leu) c.4714T>C (p.Phe1572Leu) c.4648T>C (p.Phe1550Leu) c.4588T>C (p.Phe1530Leu) c.4474T>C (p.Phe1492Leu) c.4453T>C (p.Phe1485Leu) c.4318T>C (p.Phe1440Leu) c.4258T>C (p.Phe1420Leu) c.4192T>C (p.Phe1398Leu) c.4189T>C (p.Phe1397Leu) c.4180T>C (p.Phe1394Leu) c.4123T>C (p.Phe1375Leu) c.4006T>C (p.Phe1336Leu) | |
3 | g.77644889T>G | CA353533930 | ROBO2 | c.4315T>G (p.Phe1439Val) c.4306T>G (p.Phe1436Val) c.4201T>G (p.Phe1401Val) c.4393T>G (p.Phe1465Val) c.*1063T>G (n.*1063T>G) c.4405T>G (p.Phe1469Val) c.4579T>G (p.Phe1527Val) c.*2553T>G (n.*2553T>G) c.4246T>G (p.Phe1416Val) c.661T>G (p.Phe221Val) c.4303T>G (p.Phe1435Val) c.4120T>G (p.Phe1374Val) n.6108T>G c.*2564T>G (n.*2564T>G) c.614T>G c.4168T>G (p.Phe1390Val) c.578T>G c.3736T>G (p.Phe1246Val) c.4132T>G (p.Phe1378Val) c.2341T>G (p.Phe781Val) c.4783T>G (p.Phe1595Val) c.4657T>G (p.Phe1553Val) c.4600T>G (p.Phe1534Val) c.4327T>G (p.Phe1443Val) c.4714T>G (p.Phe1572Val) c.4648T>G (p.Phe1550Val) c.4588T>G (p.Phe1530Val) c.4474T>G (p.Phe1492Val) c.4453T>G (p.Phe1485Val) c.4318T>G (p.Phe1440Val) c.4258T>G (p.Phe1420Val) c.4192T>G (p.Phe1398Val) c.4189T>G (p.Phe1397Val) c.4180T>G (p.Phe1394Val) c.4123T>G (p.Phe1375Val) c.4006T>G (p.Phe1336Val) | |
3 | g.77644889T= | CA1376777994 | ROBO2 | c.4315T= (p.Phe1439=) c.4306T= (p.Phe1436=) c.4201T= (p.Phe1401=) c.4393T= (p.Phe1465=) c.*1063T= (n.*1063T=) c.4405T= (p.Phe1469=) c.4579T= (p.Phe1527=) c.*2553T= (n.*2553T=) c.4246T= (p.Phe1416=) c.661T= (p.Phe221=) c.4303T= (p.Phe1435=) c.4120T= (p.Phe1374=) n.6108T= c.*2564T= (n.*2564T=) c.614T= c.4168T= (p.Phe1390=) c.578T= c.3736T= (p.Phe1246=) c.4132T= (p.Phe1378=) c.2341T= (p.Phe781=) c.4783T= (p.Phe1595=) c.4657T= (p.Phe1553=) c.4600T= (p.Phe1534=) c.4327T= (p.Phe1443=) c.4714T= (p.Phe1572=) c.4648T= (p.Phe1550=) c.4588T= (p.Phe1530=) c.4474T= (p.Phe1492=) c.4453T= (p.Phe1485=) c.4318T= (p.Phe1440=) c.4258T= (p.Phe1420=) c.4192T= (p.Phe1398=) c.4189T= (p.Phe1397=) c.4180T= (p.Phe1394=) c.4123T= (p.Phe1375=) c.4006T= (p.Phe1336=) | |
3 | g.77644891del | CA2666589403 | ROBO2 | c.4317del (p.Phe1439LeufsTer8) c.4308del (p.Phe1436LeufsTer5) c.4203del (p.Phe1401LeufsTer5) c.4395del (p.Phe1465LeufsTer8) c.*1065del (n.*1065del) c.4407del (p.Phe1469LeufsTer8) c.4308del (p.Phe1436LeufsTer8) c.4581del (p.Phe1527LeufsTer8) c.*2555del (n.*2555del) c.4248del (p.Phe1416LeufsTer8) c.663del (p.Phe221LeufsTer5) c.4305del (p.Phe1435LeufsTer8) c.4122del (p.Phe1374LeufsTer8) n.6110del c.*2566del (n.*2566del) c.616del c.4170del (p.Phe1390LeufsTer8) c.580del c.3738del (p.Phe1246LeufsTer8) c.4134del (p.Phe1378LeufsTer8) c.2343del (p.Phe781LeufsTer8) c.4785del (p.Phe1595LeufsTer5) c.4659del (p.Phe1553LeufsTer8) c.4602del (p.Phe1534LeufsTer8) c.4329del (p.Phe1443LeufsTer8) c.4203del (p.Phe1401LeufsTer8) c.4716del (p.Phe1572LeufsTer8) c.4650del (p.Phe1550LeufsTer8) c.4602del (p.Phe1534LeufsTer5) c.4590del (p.Phe1530LeufsTer8) c.4476del (p.Phe1492LeufsTer8) c.4455del (p.Phe1485LeufsTer8) c.4329del (p.Phe1443LeufsTer5) c.4320del (p.Phe1440LeufsTer5) c.4260del (p.Phe1420LeufsTer8) c.4260del (p.Phe1420LeufsTer5) c.4194del (p.Phe1398LeufsTer8) c.4191del (p.Phe1397LeufsTer8) c.4182del (p.Phe1394LeufsTer8) c.4182del (p.Phe1394LeufsTer5) c.4125del (p.Phe1375LeufsTer8) c.4008del (p.Phe1336LeufsTer5) c.4317del (p.Phe1439LeufsTer5) | gnomAD v4 |
3 | g.77644890T>A | CA353533931 | ROBO2 | c.4316T>A (p.Phe1439Tyr) c.4307T>A (p.Phe1436Tyr) c.4202T>A (p.Phe1401Tyr) c.4394T>A (p.Phe1465Tyr) c.*1064T>A (n.*1064T>A) c.4406T>A (p.Phe1469Tyr) c.4580T>A (p.Phe1527Tyr) c.*2554T>A (n.*2554T>A) c.4247T>A (p.Phe1416Tyr) c.662T>A (p.Phe221Tyr) c.4304T>A (p.Phe1435Tyr) c.4121T>A (p.Phe1374Tyr) n.6109T>A c.*2565T>A (n.*2565T>A) c.615T>A c.4169T>A (p.Phe1390Tyr) c.579T>A c.3737T>A (p.Phe1246Tyr) c.4133T>A (p.Phe1378Tyr) c.2342T>A (p.Phe781Tyr) c.4784T>A (p.Phe1595Tyr) c.4658T>A (p.Phe1553Tyr) c.4601T>A (p.Phe1534Tyr) c.4328T>A (p.Phe1443Tyr) c.4715T>A (p.Phe1572Tyr) c.4649T>A (p.Phe1550Tyr) c.4589T>A (p.Phe1530Tyr) c.4475T>A (p.Phe1492Tyr) c.4454T>A (p.Phe1485Tyr) c.4319T>A (p.Phe1440Tyr) c.4259T>A (p.Phe1420Tyr) c.4193T>A (p.Phe1398Tyr) c.4190T>A (p.Phe1397Tyr) c.4181T>A (p.Phe1394Tyr) c.4124T>A (p.Phe1375Tyr) c.4007T>A (p.Phe1336Tyr) | |
3 | g.77644890T>C | CA353533933 | ROBO2 | c.4316T>C (p.Phe1439Ser) c.4307T>C (p.Phe1436Ser) c.4202T>C (p.Phe1401Ser) c.4394T>C (p.Phe1465Ser) c.*1064T>C (n.*1064T>C) c.4406T>C (p.Phe1469Ser) c.4580T>C (p.Phe1527Ser) c.*2554T>C (n.*2554T>C) c.4247T>C (p.Phe1416Ser) c.662T>C (p.Phe221Ser) c.4304T>C (p.Phe1435Ser) c.4121T>C (p.Phe1374Ser) n.6109T>C c.*2565T>C (n.*2565T>C) c.615T>C c.4169T>C (p.Phe1390Ser) c.579T>C c.3737T>C (p.Phe1246Ser) c.4133T>C (p.Phe1378Ser) c.2342T>C (p.Phe781Ser) c.4784T>C (p.Phe1595Ser) c.4658T>C (p.Phe1553Ser) c.4601T>C (p.Phe1534Ser) c.4328T>C (p.Phe1443Ser) c.4715T>C (p.Phe1572Ser) c.4649T>C (p.Phe1550Ser) c.4589T>C (p.Phe1530Ser) c.4475T>C (p.Phe1492Ser) c.4454T>C (p.Phe1485Ser) c.4319T>C (p.Phe1440Ser) c.4259T>C (p.Phe1420Ser) c.4193T>C (p.Phe1398Ser) c.4190T>C (p.Phe1397Ser) c.4181T>C (p.Phe1394Ser) c.4124T>C (p.Phe1375Ser) c.4007T>C (p.Phe1336Ser) | |
3 | g.77644890T>G | CA353533935 | ROBO2 | c.4316T>G (p.Phe1439Cys) c.4307T>G (p.Phe1436Cys) c.4202T>G (p.Phe1401Cys) c.4394T>G (p.Phe1465Cys) c.*1064T>G (n.*1064T>G) c.4406T>G (p.Phe1469Cys) c.4580T>G (p.Phe1527Cys) c.*2554T>G (n.*2554T>G) c.4247T>G (p.Phe1416Cys) c.662T>G (p.Phe221Cys) c.4304T>G (p.Phe1435Cys) c.4121T>G (p.Phe1374Cys) n.6109T>G c.*2565T>G (n.*2565T>G) c.615T>G c.4169T>G (p.Phe1390Cys) c.579T>G c.3737T>G (p.Phe1246Cys) c.4133T>G (p.Phe1378Cys) c.2342T>G (p.Phe781Cys) c.4784T>G (p.Phe1595Cys) c.4658T>G (p.Phe1553Cys) c.4601T>G (p.Phe1534Cys) c.4328T>G (p.Phe1443Cys) c.4715T>G (p.Phe1572Cys) c.4649T>G (p.Phe1550Cys) c.4589T>G (p.Phe1530Cys) c.4475T>G (p.Phe1492Cys) c.4454T>G (p.Phe1485Cys) c.4319T>G (p.Phe1440Cys) c.4259T>G (p.Phe1420Cys) c.4193T>G (p.Phe1398Cys) c.4190T>G (p.Phe1397Cys) c.4181T>G (p.Phe1394Cys) c.4124T>G (p.Phe1375Cys) c.4007T>G (p.Phe1336Cys) | |
3 | g.77644891T>A | CA353533937 | ROBO2 | c.4317T>A (p.Phe1439Leu) c.4308T>A (p.Phe1436Leu) c.4203T>A (p.Phe1401Leu) c.4395T>A (p.Phe1465Leu) c.*1065T>A (n.*1065T>A) c.4407T>A (p.Phe1469Leu) c.4581T>A (p.Phe1527Leu) c.*2555T>A (n.*2555T>A) c.4248T>A (p.Phe1416Leu) c.663T>A (p.Phe221Leu) c.4305T>A (p.Phe1435Leu) c.4122T>A (p.Phe1374Leu) n.6110T>A c.*2566T>A (n.*2566T>A) c.616T>A c.4170T>A (p.Phe1390Leu) c.580T>A c.3738T>A (p.Phe1246Leu) c.4134T>A (p.Phe1378Leu) c.2343T>A (p.Phe781Leu) c.4785T>A (p.Phe1595Leu) c.4659T>A (p.Phe1553Leu) c.4602T>A (p.Phe1534Leu) c.4329T>A (p.Phe1443Leu) c.4716T>A (p.Phe1572Leu) c.4650T>A (p.Phe1550Leu) c.4590T>A (p.Phe1530Leu) c.4476T>A (p.Phe1492Leu) c.4455T>A (p.Phe1485Leu) c.4320T>A (p.Phe1440Leu) c.4260T>A (p.Phe1420Leu) c.4194T>A (p.Phe1398Leu) c.4191T>A (p.Phe1397Leu) c.4182T>A (p.Phe1394Leu) c.4125T>A (p.Phe1375Leu) c.4008T>A (p.Phe1336Leu) | |
3 | g.77644891T>C | CA434435393 | ROBO2 | c.4317T>C (p.Phe1439=) c.4308T>C (p.Phe1436=) c.4203T>C (p.Phe1401=) c.4395T>C (p.Phe1465=) c.*1065T>C (n.*1065T>C) c.4407T>C (p.Phe1469=) c.4581T>C (p.Phe1527=) c.*2555T>C (n.*2555T>C) c.4248T>C (p.Phe1416=) c.663T>C (p.Phe221=) c.4305T>C (p.Phe1435=) c.4122T>C (p.Phe1374=) n.6110T>C c.*2566T>C (n.*2566T>C) c.616T>C c.4170T>C (p.Phe1390=) c.580T>C c.3738T>C (p.Phe1246=) c.4134T>C (p.Phe1378=) c.2343T>C (p.Phe781=) c.4785T>C (p.Phe1595=) c.4659T>C (p.Phe1553=) c.4602T>C (p.Phe1534=) c.4329T>C (p.Phe1443=) c.4716T>C (p.Phe1572=) c.4650T>C (p.Phe1550=) c.4590T>C (p.Phe1530=) c.4476T>C (p.Phe1492=) c.4455T>C (p.Phe1485=) c.4320T>C (p.Phe1440=) c.4260T>C (p.Phe1420=) c.4194T>C (p.Phe1398=) c.4191T>C (p.Phe1397=) c.4182T>C (p.Phe1394=) c.4125T>C (p.Phe1375=) c.4008T>C (p.Phe1336=) | |
3 | g.77644891T>G | CA353533939 | ROBO2 | c.4317T>G (p.Phe1439Leu) c.4308T>G (p.Phe1436Leu) c.4203T>G (p.Phe1401Leu) c.4395T>G (p.Phe1465Leu) c.*1065T>G (n.*1065T>G) c.4407T>G (p.Phe1469Leu) c.4581T>G (p.Phe1527Leu) c.*2555T>G (n.*2555T>G) c.4248T>G (p.Phe1416Leu) c.663T>G (p.Phe221Leu) c.4305T>G (p.Phe1435Leu) c.4122T>G (p.Phe1374Leu) n.6110T>G c.*2566T>G (n.*2566T>G) c.616T>G c.4170T>G (p.Phe1390Leu) c.580T>G c.3738T>G (p.Phe1246Leu) c.4134T>G (p.Phe1378Leu) c.2343T>G (p.Phe781Leu) c.4785T>G (p.Phe1595Leu) c.4659T>G (p.Phe1553Leu) c.4602T>G (p.Phe1534Leu) c.4329T>G (p.Phe1443Leu) c.4716T>G (p.Phe1572Leu) c.4650T>G (p.Phe1550Leu) c.4590T>G (p.Phe1530Leu) c.4476T>G (p.Phe1492Leu) c.4455T>G (p.Phe1485Leu) c.4320T>G (p.Phe1440Leu) c.4260T>G (p.Phe1420Leu) c.4194T>G (p.Phe1398Leu) c.4191T>G (p.Phe1397Leu) c.4182T>G (p.Phe1394Leu) c.4125T>G (p.Phe1375Leu) c.4008T>G (p.Phe1336Leu) | |
3 | g.77644892A>C | CA353533940 | ROBO2 | c.4318A>C (p.Thr1440Pro) c.4309A>C (p.Thr1437Pro) c.4204A>C (p.Thr1402Pro) c.4396A>C (p.Thr1466Pro) c.*1066A>C (n.*1066A>C) c.4408A>C (p.Thr1470Pro) c.4582A>C (p.Thr1528Pro) c.*2556A>C (n.*2556A>C) c.4249A>C (p.Thr1417Pro) c.664A>C (p.Thr222Pro) c.4306A>C (p.Thr1436Pro) c.4123A>C (p.Thr1375Pro) n.6111A>C c.*2567A>C (n.*2567A>C) c.617A>C c.4171A>C (p.Thr1391Pro) c.581A>C c.3739A>C (p.Thr1247Pro) c.4135A>C (p.Thr1379Pro) c.2344A>C (p.Thr782Pro) c.4786A>C (p.Thr1596Pro) c.4660A>C (p.Thr1554Pro) c.4603A>C (p.Thr1535Pro) c.4330A>C (p.Thr1444Pro) c.4717A>C (p.Thr1573Pro) c.4651A>C (p.Thr1551Pro) c.4591A>C (p.Thr1531Pro) c.4477A>C (p.Thr1493Pro) c.4456A>C (p.Thr1486Pro) c.4321A>C (p.Thr1441Pro) c.4261A>C (p.Thr1421Pro) c.4195A>C (p.Thr1399Pro) c.4192A>C (p.Thr1398Pro) c.4183A>C (p.Thr1395Pro) c.4126A>C (p.Thr1376Pro) c.4009A>C (p.Thr1337Pro) | |
3 | g.77644892A>G | CA353533941 | ROBO2 | c.4318A>G (p.Thr1440Ala) c.4309A>G (p.Thr1437Ala) c.4204A>G (p.Thr1402Ala) c.4396A>G (p.Thr1466Ala) c.*1066A>G (n.*1066A>G) c.4408A>G (p.Thr1470Ala) c.4582A>G (p.Thr1528Ala) c.*2556A>G (n.*2556A>G) c.4249A>G (p.Thr1417Ala) c.664A>G (p.Thr222Ala) c.4306A>G (p.Thr1436Ala) c.4123A>G (p.Thr1375Ala) n.6111A>G c.*2567A>G (n.*2567A>G) c.617A>G c.4171A>G (p.Thr1391Ala) c.581A>G c.3739A>G (p.Thr1247Ala) c.4135A>G (p.Thr1379Ala) c.2344A>G (p.Thr782Ala) c.4786A>G (p.Thr1596Ala) c.4660A>G (p.Thr1554Ala) c.4603A>G (p.Thr1535Ala) c.4330A>G (p.Thr1444Ala) c.4717A>G (p.Thr1573Ala) c.4651A>G (p.Thr1551Ala) c.4591A>G (p.Thr1531Ala) c.4477A>G (p.Thr1493Ala) c.4456A>G (p.Thr1486Ala) c.4321A>G (p.Thr1441Ala) c.4261A>G (p.Thr1421Ala) c.4195A>G (p.Thr1399Ala) c.4192A>G (p.Thr1398Ala) c.4183A>G (p.Thr1395Ala) c.4126A>G (p.Thr1376Ala) c.4009A>G (p.Thr1337Ala) | |
3 | g.77644892A>T | CA353533942 | ROBO2 | c.4318A>T (p.Thr1440Ser) c.4309A>T (p.Thr1437Ser) c.4204A>T (p.Thr1402Ser) c.4396A>T (p.Thr1466Ser) c.*1066A>T (n.*1066A>T) c.4408A>T (p.Thr1470Ser) c.4582A>T (p.Thr1528Ser) c.*2556A>T (n.*2556A>T) c.4249A>T (p.Thr1417Ser) c.664A>T (p.Thr222Ser) c.4306A>T (p.Thr1436Ser) c.4123A>T (p.Thr1375Ser) n.6111A>T c.*2567A>T (n.*2567A>T) c.617A>T c.4171A>T (p.Thr1391Ser) c.581A>T c.3739A>T (p.Thr1247Ser) c.4135A>T (p.Thr1379Ser) c.2344A>T (p.Thr782Ser) c.4786A>T (p.Thr1596Ser) c.4660A>T (p.Thr1554Ser) c.4603A>T (p.Thr1535Ser) c.4330A>T (p.Thr1444Ser) c.4717A>T (p.Thr1573Ser) c.4651A>T (p.Thr1551Ser) c.4591A>T (p.Thr1531Ser) c.4477A>T (p.Thr1493Ser) c.4456A>T (p.Thr1486Ser) c.4321A>T (p.Thr1441Ser) c.4261A>T (p.Thr1421Ser) c.4195A>T (p.Thr1399Ser) c.4192A>T (p.Thr1398Ser) c.4183A>T (p.Thr1395Ser) c.4126A>T (p.Thr1376Ser) c.4009A>T (p.Thr1337Ser) | |
3 | g.77644893C>A | CA353533945 | ROBO2 | c.4319C>A (p.Thr1440Lys) c.4310C>A (p.Thr1437Lys) c.4205C>A (p.Thr1402Lys) c.4397C>A (p.Thr1466Lys) c.*1067C>A (n.*1067C>A) c.4409C>A (p.Thr1470Lys) c.4583C>A (p.Thr1528Lys) c.*2557C>A (n.*2557C>A) c.4250C>A (p.Thr1417Lys) c.665C>A (p.Thr222Lys) c.4307C>A (p.Thr1436Lys) c.4124C>A (p.Thr1375Lys) n.6112C>A c.*2568C>A (n.*2568C>A) c.618C>A c.4172C>A (p.Thr1391Lys) c.582C>A c.3740C>A (p.Thr1247Lys) c.4136C>A (p.Thr1379Lys) c.2345C>A (p.Thr782Lys) c.4787C>A (p.Thr1596Lys) c.4661C>A (p.Thr1554Lys) c.4604C>A (p.Thr1535Lys) c.4331C>A (p.Thr1444Lys) c.4718C>A (p.Thr1573Lys) c.4652C>A (p.Thr1551Lys) c.4592C>A (p.Thr1531Lys) c.4478C>A (p.Thr1493Lys) c.4457C>A (p.Thr1486Lys) c.4322C>A (p.Thr1441Lys) c.4262C>A (p.Thr1421Lys) c.4196C>A (p.Thr1399Lys) c.4193C>A (p.Thr1398Lys) c.4184C>A (p.Thr1395Lys) c.4127C>A (p.Thr1376Lys) c.4010C>A (p.Thr1337Lys) | gnomAD v4 |
3 | g.77644893C= | CA1376777995 | ROBO2 | c.4319C= (p.Thr1440=) c.4310C= (p.Thr1437=) c.4205C= (p.Thr1402=) c.4397C= (p.Thr1466=) c.*1067C= (n.*1067C=) c.4409C= (p.Thr1470=) c.4583C= (p.Thr1528=) c.*2557C= (n.*2557C=) c.4250C= (p.Thr1417=) c.665C= (p.Thr222=) c.4307C= (p.Thr1436=) c.4124C= (p.Thr1375=) n.6112C= c.*2568C= (n.*2568C=) c.618C= c.4172C= (p.Thr1391=) c.582C= c.3740C= (p.Thr1247=) c.4136C= (p.Thr1379=) c.2345C= (p.Thr782=) c.4787C= (p.Thr1596=) c.4661C= (p.Thr1554=) c.4604C= (p.Thr1535=) c.4331C= (p.Thr1444=) c.4718C= (p.Thr1573=) c.4652C= (p.Thr1551=) c.4592C= (p.Thr1531=) c.4478C= (p.Thr1493=) c.4457C= (p.Thr1486=) c.4322C= (p.Thr1441=) c.4262C= (p.Thr1421=) c.4196C= (p.Thr1399=) c.4193C= (p.Thr1398=) c.4184C= (p.Thr1395=) c.4127C= (p.Thr1376=) c.4010C= (p.Thr1337=) | |
3 | g.77644893C>G | CA353533946 | ROBO2 | c.4319C>G (p.Thr1440Arg) c.4310C>G (p.Thr1437Arg) c.4205C>G (p.Thr1402Arg) c.4397C>G (p.Thr1466Arg) c.*1067C>G (n.*1067C>G) c.4409C>G (p.Thr1470Arg) c.4583C>G (p.Thr1528Arg) c.*2557C>G (n.*2557C>G) c.4250C>G (p.Thr1417Arg) c.665C>G (p.Thr222Arg) c.4307C>G (p.Thr1436Arg) c.4124C>G (p.Thr1375Arg) n.6112C>G c.*2568C>G (n.*2568C>G) c.618C>G c.4172C>G (p.Thr1391Arg) c.582C>G c.3740C>G (p.Thr1247Arg) c.4136C>G (p.Thr1379Arg) c.2345C>G (p.Thr782Arg) c.4787C>G (p.Thr1596Arg) c.4661C>G (p.Thr1554Arg) c.4604C>G (p.Thr1535Arg) c.4331C>G (p.Thr1444Arg) c.4718C>G (p.Thr1573Arg) c.4652C>G (p.Thr1551Arg) c.4592C>G (p.Thr1531Arg) c.4478C>G (p.Thr1493Arg) c.4457C>G (p.Thr1486Arg) c.4322C>G (p.Thr1441Arg) c.4262C>G (p.Thr1421Arg) c.4196C>G (p.Thr1399Arg) c.4193C>G (p.Thr1398Arg) c.4184C>G (p.Thr1395Arg) c.4127C>G (p.Thr1376Arg) c.4010C>G (p.Thr1337Arg) | |
3 | g.77644893C>T | CA353533948 | ROBO2 | c.4319C>T (p.Thr1440Ile) c.4310C>T (p.Thr1437Ile) c.4205C>T (p.Thr1402Ile) c.4397C>T (p.Thr1466Ile) c.*1067C>T (n.*1067C>T) c.4409C>T (p.Thr1470Ile) c.4583C>T (p.Thr1528Ile) c.*2557C>T (n.*2557C>T) c.4250C>T (p.Thr1417Ile) c.665C>T (p.Thr222Ile) c.4307C>T (p.Thr1436Ile) c.4124C>T (p.Thr1375Ile) n.6112C>T c.*2568C>T (n.*2568C>T) c.618C>T c.4172C>T (p.Thr1391Ile) c.582C>T c.3740C>T (p.Thr1247Ile) c.4136C>T (p.Thr1379Ile) c.2345C>T (p.Thr782Ile) c.4787C>T (p.Thr1596Ile) c.4661C>T (p.Thr1554Ile) c.4604C>T (p.Thr1535Ile) c.4331C>T (p.Thr1444Ile) c.4718C>T (p.Thr1573Ile) c.4652C>T (p.Thr1551Ile) c.4592C>T (p.Thr1531Ile) c.4478C>T (p.Thr1493Ile) c.4457C>T (p.Thr1486Ile) c.4322C>T (p.Thr1441Ile) c.4262C>T (p.Thr1421Ile) c.4196C>T (p.Thr1399Ile) c.4193C>T (p.Thr1398Ile) c.4184C>T (p.Thr1395Ile) c.4127C>T (p.Thr1376Ile) c.4010C>T (p.Thr1337Ile) | dbSNP gnomAD v2 |
3 | g.77644894A>C | CA434435398 | ROBO2 | c.4320A>C (p.Thr1440=) c.4311A>C (p.Thr1437=) c.4206A>C (p.Thr1402=) c.4398A>C (p.Thr1466=) c.*1068A>C (n.*1068A>C) c.4410A>C (p.Thr1470=) c.4584A>C (p.Thr1528=) c.*2558A>C (n.*2558A>C) c.4251A>C (p.Thr1417=) c.666A>C (p.Thr222=) c.4308A>C (p.Thr1436=) c.4125A>C (p.Thr1375=) n.6113A>C c.*2569A>C (n.*2569A>C) c.619A>C c.4173A>C (p.Thr1391=) c.583A>C c.3741A>C (p.Thr1247=) c.4137A>C (p.Thr1379=) c.2346A>C (p.Thr782=) c.4788A>C (p.Thr1596=) c.4662A>C (p.Thr1554=) c.4605A>C (p.Thr1535=) c.4332A>C (p.Thr1444=) c.4719A>C (p.Thr1573=) c.4653A>C (p.Thr1551=) c.4593A>C (p.Thr1531=) c.4479A>C (p.Thr1493=) c.4458A>C (p.Thr1486=) c.4323A>C (p.Thr1441=) c.4263A>C (p.Thr1421=) c.4197A>C (p.Thr1399=) c.4194A>C (p.Thr1398=) c.4185A>C (p.Thr1395=) c.4128A>C (p.Thr1376=) c.4011A>C (p.Thr1337=) | |
3 | g.77644894A>G | CA434435396 | ROBO2 | c.4320A>G (p.Thr1440=) c.4311A>G (p.Thr1437=) c.4206A>G (p.Thr1402=) c.4398A>G (p.Thr1466=) c.*1068A>G (n.*1068A>G) c.4410A>G (p.Thr1470=) c.4584A>G (p.Thr1528=) c.*2558A>G (n.*2558A>G) c.4251A>G (p.Thr1417=) c.666A>G (p.Thr222=) c.4308A>G (p.Thr1436=) c.4125A>G (p.Thr1375=) n.6113A>G c.*2569A>G (n.*2569A>G) c.619A>G c.4173A>G (p.Thr1391=) c.583A>G c.3741A>G (p.Thr1247=) c.4137A>G (p.Thr1379=) c.2346A>G (p.Thr782=) c.4788A>G (p.Thr1596=) c.4662A>G (p.Thr1554=) c.4605A>G (p.Thr1535=) c.4332A>G (p.Thr1444=) c.4719A>G (p.Thr1573=) c.4653A>G (p.Thr1551=) c.4593A>G (p.Thr1531=) c.4479A>G (p.Thr1493=) c.4458A>G (p.Thr1486=) c.4323A>G (p.Thr1441=) c.4263A>G (p.Thr1421=) c.4197A>G (p.Thr1399=) c.4194A>G (p.Thr1398=) c.4185A>G (p.Thr1395=) c.4128A>G (p.Thr1376=) c.4011A>G (p.Thr1337=) | |
3 | g.77644894A>T | CA434435397 | ROBO2 | c.4320A>T (p.Thr1440=) c.4311A>T (p.Thr1437=) c.4206A>T (p.Thr1402=) c.4398A>T (p.Thr1466=) c.*1068A>T (n.*1068A>T) c.4410A>T (p.Thr1470=) c.4584A>T (p.Thr1528=) c.*2558A>T (n.*2558A>T) c.4251A>T (p.Thr1417=) c.666A>T (p.Thr222=) c.4308A>T (p.Thr1436=) c.4125A>T (p.Thr1375=) n.6113A>T c.*2569A>T (n.*2569A>T) c.619A>T c.4173A>T (p.Thr1391=) c.583A>T c.3741A>T (p.Thr1247=) c.4137A>T (p.Thr1379=) c.2346A>T (p.Thr782=) c.4788A>T (p.Thr1596=) c.4662A>T (p.Thr1554=) c.4605A>T (p.Thr1535=) c.4332A>T (p.Thr1444=) c.4719A>T (p.Thr1573=) c.4653A>T (p.Thr1551=) c.4593A>T (p.Thr1531=) c.4479A>T (p.Thr1493=) c.4458A>T (p.Thr1486=) c.4323A>T (p.Thr1441=) c.4263A>T (p.Thr1421=) c.4197A>T (p.Thr1399=) c.4194A>T (p.Thr1398=) c.4185A>T (p.Thr1395=) c.4128A>T (p.Thr1376=) c.4011A>T (p.Thr1337=) | |
3 | g.77644895G>A | CA353533951 | ROBO2 | c.4321G>A (p.Gly1441Ser) c.4312G>A (p.Glu1438Lys) c.4207G>A (p.Glu1403Lys) c.4399G>A (p.Gly1467Ser) c.*1069G>A (n.*1069G>A) c.4411G>A (p.Gly1471Ser) c.4312G>A (p.Gly1438Ser) c.4585G>A (p.Gly1529Ser) c.*2559G>A (n.*2559G>A) c.4252G>A (p.Gly1418Ser) c.667G>A (p.Glu223Lys) c.4309G>A (p.Gly1437Ser) c.4126G>A (p.Gly1376Ser) n.6114G>A c.*2570G>A (n.*2570G>A) c.620G>A c.4174G>A (p.Gly1392Ser) c.584G>A c.3742G>A (p.Gly1248Ser) c.4138G>A (p.Gly1380Ser) c.2347G>A (p.Gly783Ser) c.4789G>A (p.Glu1597Lys) c.4663G>A (p.Gly1555Ser) c.4606G>A (p.Gly1536Ser) c.4333G>A (p.Gly1445Ser) c.4207G>A (p.Gly1403Ser) c.4720G>A (p.Gly1574Ser) c.4654G>A (p.Gly1552Ser) c.4606G>A (p.Glu1536Lys) c.4594G>A (p.Gly1532Ser) c.4480G>A (p.Gly1494Ser) c.4459G>A (p.Gly1487Ser) c.4333G>A (p.Glu1445Lys) c.4324G>A (p.Glu1442Lys) c.4264G>A (p.Gly1422Ser) c.4264G>A (p.Glu1422Lys) c.4198G>A (p.Gly1400Ser) c.4195G>A (p.Gly1399Ser) c.4186G>A (p.Gly1396Ser) c.4186G>A (p.Glu1396Lys) c.4129G>A (p.Gly1377Ser) c.4012G>A (p.Glu1338Lys) c.4321G>A (p.Glu1441Lys) | |
3 | g.77644895G>C | CA353533952 | ROBO2 | c.4321G>C (p.Gly1441Arg) c.4312G>C (p.Glu1438Gln) c.4207G>C (p.Glu1403Gln) c.4399G>C (p.Gly1467Arg) c.*1069G>C (n.*1069G>C) c.4411G>C (p.Gly1471Arg) c.4312G>C (p.Gly1438Arg) c.4585G>C (p.Gly1529Arg) c.*2559G>C (n.*2559G>C) c.4252G>C (p.Gly1418Arg) c.667G>C (p.Glu223Gln) c.4309G>C (p.Gly1437Arg) c.4126G>C (p.Gly1376Arg) n.6114G>C c.*2570G>C (n.*2570G>C) c.620G>C c.4174G>C (p.Gly1392Arg) c.584G>C c.3742G>C (p.Gly1248Arg) c.4138G>C (p.Gly1380Arg) c.2347G>C (p.Gly783Arg) c.4789G>C (p.Glu1597Gln) c.4663G>C (p.Gly1555Arg) c.4606G>C (p.Gly1536Arg) c.4333G>C (p.Gly1445Arg) c.4207G>C (p.Gly1403Arg) c.4720G>C (p.Gly1574Arg) c.4654G>C (p.Gly1552Arg) c.4606G>C (p.Glu1536Gln) c.4594G>C (p.Gly1532Arg) c.4480G>C (p.Gly1494Arg) c.4459G>C (p.Gly1487Arg) c.4333G>C (p.Glu1445Gln) c.4324G>C (p.Glu1442Gln) c.4264G>C (p.Gly1422Arg) c.4264G>C (p.Glu1422Gln) c.4198G>C (p.Gly1400Arg) c.4195G>C (p.Gly1399Arg) c.4186G>C (p.Gly1396Arg) c.4186G>C (p.Glu1396Gln) c.4129G>C (p.Gly1377Arg) c.4012G>C (p.Glu1338Gln) c.4321G>C (p.Glu1441Gln) | |
3 | g.77644895G>T | CA353533954 | ROBO2 | c.4321G>T (p.Gly1441Cys) c.4312G>T (p.Glu1438Ter) c.4207G>T (p.Glu1403Ter) c.4399G>T (p.Gly1467Cys) c.*1069G>T (n.*1069G>T) c.4411G>T (p.Gly1471Cys) c.4312G>T (p.Gly1438Cys) c.4585G>T (p.Gly1529Cys) c.*2559G>T (n.*2559G>T) c.4252G>T (p.Gly1418Cys) c.667G>T (p.Glu223Ter) c.4309G>T (p.Gly1437Cys) c.4126G>T (p.Gly1376Cys) n.6114G>T c.*2570G>T (n.*2570G>T) c.620G>T c.4174G>T (p.Gly1392Cys) c.584G>T c.3742G>T (p.Gly1248Cys) c.4138G>T (p.Gly1380Cys) c.2347G>T (p.Gly783Cys) c.4789G>T (p.Glu1597Ter) c.4663G>T (p.Gly1555Cys) c.4606G>T (p.Gly1536Cys) c.4333G>T (p.Gly1445Cys) c.4207G>T (p.Gly1403Cys) c.4720G>T (p.Gly1574Cys) c.4654G>T (p.Gly1552Cys) c.4606G>T (p.Glu1536Ter) c.4594G>T (p.Gly1532Cys) c.4480G>T (p.Gly1494Cys) c.4459G>T (p.Gly1487Cys) c.4333G>T (p.Glu1445Ter) c.4324G>T (p.Glu1442Ter) c.4264G>T (p.Gly1422Cys) c.4264G>T (p.Glu1422Ter) c.4198G>T (p.Gly1400Cys) c.4195G>T (p.Gly1399Cys) c.4186G>T (p.Gly1396Cys) c.4186G>T (p.Glu1396Ter) c.4129G>T (p.Gly1377Cys) c.4012G>T (p.Glu1338Ter) c.4321G>T (p.Glu1441Ter) | |
3 | g.77644896G>A | CA353533957 | ROBO2 | c.4322G>A (p.Gly1441Asp) c.4312+1G>A (n.4312+1G>A) c.4207+1G>A (n.4207+1G>A) c.4400G>A (p.Gly1467Asp) c.*1070G>A (n.*1070G>A) c.4412G>A (p.Gly1471Asp) c.4313G>A (p.Gly1438Asp) c.4586G>A (p.Gly1529Asp) c.*2560G>A (n.*2560G>A) c.4253G>A (p.Gly1418Asp) c.667+1G>A (n.667+1G>A) c.4310G>A (p.Gly1437Asp) c.4127G>A (p.Gly1376Asp) n.6115G>A c.*2571G>A (n.*2571G>A) c.620+1G>A c.4175G>A (p.Gly1392Asp) c.585G>A c.3743G>A (p.Gly1248Asp) c.4139G>A (p.Gly1380Asp) c.2348G>A (p.Gly783Asp) c.4789+1G>A (n.4789+1G>A) c.4664G>A (p.Gly1555Asp) c.4607G>A (p.Gly1536Asp) c.4334G>A (p.Gly1445Asp) c.4208G>A (p.Gly1403Asp) c.4721G>A (p.Gly1574Asp) c.4655G>A (p.Gly1552Asp) c.4606+1G>A (n.4606+1G>A) c.4595G>A (p.Gly1532Asp) c.4481G>A (p.Gly1494Asp) c.4460G>A (p.Gly1487Asp) c.4333+1G>A (n.4333+1G>A) c.4324+1G>A (n.4324+1G>A) c.4265G>A (p.Gly1422Asp) c.4264+1G>A (n.4264+1G>A) c.4199G>A (p.Gly1400Asp) c.4196G>A (p.Gly1399Asp) c.4187G>A (p.Gly1396Asp) c.4186+1G>A (n.4186+1G>A) c.4130G>A (p.Gly1377Asp) c.4012+1G>A (n.4012+1G>A) c.4321+1G>A (n.4321+1G>A) | |
3 | g.77644896G>C | CA353533958 | ROBO2 | c.4322G>C (p.Gly1441Ala) c.4312+1G>C (n.4312+1G>C) c.4207+1G>C (n.4207+1G>C) c.4400G>C (p.Gly1467Ala) c.*1070G>C (n.*1070G>C) c.4412G>C (p.Gly1471Ala) c.4313G>C (p.Gly1438Ala) c.4586G>C (p.Gly1529Ala) c.*2560G>C (n.*2560G>C) c.4253G>C (p.Gly1418Ala) c.667+1G>C (n.667+1G>C) c.4310G>C (p.Gly1437Ala) c.4127G>C (p.Gly1376Ala) n.6115G>C c.*2571G>C (n.*2571G>C) c.620+1G>C c.4175G>C (p.Gly1392Ala) c.585G>C c.3743G>C (p.Gly1248Ala) c.4139G>C (p.Gly1380Ala) c.2348G>C (p.Gly783Ala) c.4789+1G>C (n.4789+1G>C) c.4664G>C (p.Gly1555Ala) c.4607G>C (p.Gly1536Ala) c.4334G>C (p.Gly1445Ala) c.4208G>C (p.Gly1403Ala) c.4721G>C (p.Gly1574Ala) c.4655G>C (p.Gly1552Ala) c.4606+1G>C (n.4606+1G>C) c.4595G>C (p.Gly1532Ala) c.4481G>C (p.Gly1494Ala) c.4460G>C (p.Gly1487Ala) c.4333+1G>C (n.4333+1G>C) c.4324+1G>C (n.4324+1G>C) c.4265G>C (p.Gly1422Ala) c.4264+1G>C (n.4264+1G>C) c.4199G>C (p.Gly1400Ala) c.4196G>C (p.Gly1399Ala) c.4187G>C (p.Gly1396Ala) c.4186+1G>C (n.4186+1G>C) c.4130G>C (p.Gly1377Ala) c.4012+1G>C (n.4012+1G>C) c.4321+1G>C (n.4321+1G>C) | |
3 | g.77644896G>T | CA353533960 | ROBO2 | c.4322G>T (p.Gly1441Val) c.4312+1G>T (n.4312+1G>T) c.4207+1G>T (n.4207+1G>T) c.4400G>T (p.Gly1467Val) c.*1070G>T (n.*1070G>T) c.4412G>T (p.Gly1471Val) c.4313G>T (p.Gly1438Val) c.4586G>T (p.Gly1529Val) c.*2560G>T (n.*2560G>T) c.4253G>T (p.Gly1418Val) c.667+1G>T (n.667+1G>T) c.4310G>T (p.Gly1437Val) c.4127G>T (p.Gly1376Val) n.6115G>T c.*2571G>T (n.*2571G>T) c.620+1G>T c.4175G>T (p.Gly1392Val) c.585G>T c.3743G>T (p.Gly1248Val) c.4139G>T (p.Gly1380Val) c.2348G>T (p.Gly783Val) c.4789+1G>T (n.4789+1G>T) c.4664G>T (p.Gly1555Val) c.4607G>T (p.Gly1536Val) c.4334G>T (p.Gly1445Val) c.4208G>T (p.Gly1403Val) c.4721G>T (p.Gly1574Val) c.4655G>T (p.Gly1552Val) c.4606+1G>T (n.4606+1G>T) c.4595G>T (p.Gly1532Val) c.4481G>T (p.Gly1494Val) c.4460G>T (p.Gly1487Val) c.4333+1G>T (n.4333+1G>T) c.4324+1G>T (n.4324+1G>T) c.4265G>T (p.Gly1422Val) c.4264+1G>T (n.4264+1G>T) c.4199G>T (p.Gly1400Val) c.4196G>T (p.Gly1399Val) c.4187G>T (p.Gly1396Val) c.4186+1G>T (n.4186+1G>T) c.4130G>T (p.Gly1377Val) c.4012+1G>T (n.4012+1G>T) c.4321+1G>T (n.4321+1G>T) | |
3 | g.77644897T>A | CA434435401 | ROBO2 | c.4323T>A (p.Gly1441=) c.4312+2T>A (n.4312+2T>A) c.4207+2T>A (n.4207+2T>A) c.4401T>A (p.Gly1467=) c.*1071T>A (n.*1071T>A) c.4413T>A (p.Gly1471=) c.4314T>A (p.Gly1438=) c.4587T>A (p.Gly1529=) c.*2561T>A (n.*2561T>A) c.4254T>A (p.Gly1418=) c.667+2T>A (n.667+2T>A) c.4311T>A (p.Gly1437=) c.4128T>A (p.Gly1376=) n.6116T>A c.*2572T>A (n.*2572T>A) c.620+2T>A c.4176T>A (p.Gly1392=) c.586T>A c.3744T>A (p.Gly1248=) c.4140T>A (p.Gly1380=) c.2349T>A (p.Gly783=) c.4789+2T>A (n.4789+2T>A) c.4665T>A (p.Gly1555=) c.4608T>A (p.Gly1536=) c.4335T>A (p.Gly1445=) c.4209T>A (p.Gly1403=) c.4722T>A (p.Gly1574=) c.4656T>A (p.Gly1552=) c.4606+2T>A (n.4606+2T>A) c.4596T>A (p.Gly1532=) c.4482T>A (p.Gly1494=) c.4461T>A (p.Gly1487=) c.4333+2T>A (n.4333+2T>A) c.4324+2T>A (n.4324+2T>A) c.4266T>A (p.Gly1422=) c.4264+2T>A (n.4264+2T>A) c.4200T>A (p.Gly1400=) c.4197T>A (p.Gly1399=) c.4188T>A (p.Gly1396=) c.4186+2T>A (n.4186+2T>A) c.4131T>A (p.Gly1377=) c.4012+2T>A (n.4012+2T>A) c.4321+2T>A (n.4321+2T>A) | |
3 | g.77644897T>C | CA434435402 | ROBO2 | c.4323T>C (p.Gly1441=) c.4312+2T>C (n.4312+2T>C) c.4207+2T>C (n.4207+2T>C) c.4401T>C (p.Gly1467=) c.*1071T>C (n.*1071T>C) c.4413T>C (p.Gly1471=) c.4314T>C (p.Gly1438=) c.4587T>C (p.Gly1529=) c.*2561T>C (n.*2561T>C) c.4254T>C (p.Gly1418=) c.667+2T>C (n.667+2T>C) c.4311T>C (p.Gly1437=) c.4128T>C (p.Gly1376=) n.6116T>C c.*2572T>C (n.*2572T>C) c.620+2T>C c.4176T>C (p.Gly1392=) c.586T>C c.3744T>C (p.Gly1248=) c.4140T>C (p.Gly1380=) c.2349T>C (p.Gly783=) c.4789+2T>C (n.4789+2T>C) c.4665T>C (p.Gly1555=) c.4608T>C (p.Gly1536=) c.4335T>C (p.Gly1445=) c.4209T>C (p.Gly1403=) c.4722T>C (p.Gly1574=) c.4656T>C (p.Gly1552=) c.4606+2T>C (n.4606+2T>C) c.4596T>C (p.Gly1532=) c.4482T>C (p.Gly1494=) c.4461T>C (p.Gly1487=) c.4333+2T>C (n.4333+2T>C) c.4324+2T>C (n.4324+2T>C) c.4266T>C (p.Gly1422=) c.4264+2T>C (n.4264+2T>C) c.4200T>C (p.Gly1400=) c.4197T>C (p.Gly1399=) c.4188T>C (p.Gly1396=) c.4186+2T>C (n.4186+2T>C) c.4131T>C (p.Gly1377=) c.4012+2T>C (n.4012+2T>C) c.4321+2T>C (n.4321+2T>C) | |
3 | g.77644897T>G | CA434435404 | ROBO2 | c.4323T>G (p.Gly1441=) c.4312+2T>G (n.4312+2T>G) c.4207+2T>G (n.4207+2T>G) c.4401T>G (p.Gly1467=) c.*1071T>G (n.*1071T>G) c.4413T>G (p.Gly1471=) c.4314T>G (p.Gly1438=) c.4587T>G (p.Gly1529=) c.*2561T>G (n.*2561T>G) c.4254T>G (p.Gly1418=) c.667+2T>G (n.667+2T>G) c.4311T>G (p.Gly1437=) c.4128T>G (p.Gly1376=) n.6116T>G c.*2572T>G (n.*2572T>G) c.620+2T>G c.4176T>G (p.Gly1392=) c.586T>G c.3744T>G (p.Gly1248=) c.4140T>G (p.Gly1380=) c.2349T>G (p.Gly783=) c.4789+2T>G (n.4789+2T>G) c.4665T>G (p.Gly1555=) c.4608T>G (p.Gly1536=) c.4335T>G (p.Gly1445=) c.4209T>G (p.Gly1403=) c.4722T>G (p.Gly1574=) c.4656T>G (p.Gly1552=) c.4606+2T>G (n.4606+2T>G) c.4596T>G (p.Gly1532=) c.4482T>G (p.Gly1494=) c.4461T>G (p.Gly1487=) c.4333+2T>G (n.4333+2T>G) c.4324+2T>G (n.4324+2T>G) c.4266T>G (p.Gly1422=) c.4264+2T>G (n.4264+2T>G) c.4200T>G (p.Gly1400=) c.4197T>G (p.Gly1399=) c.4188T>G (p.Gly1396=) c.4186+2T>G (n.4186+2T>G) c.4131T>G (p.Gly1377=) c.4012+2T>G (n.4012+2T>G) c.4321+2T>G (n.4321+2T>G) | |
3 | g.77644898G>A | CA353533962 | ROBO2 | c.4324G>A (p.Glu1442Lys) c.4312+3G>A (n.4312+3G>A) c.4207+3G>A (n.4207+3G>A) c.4402G>A (p.Glu1468Lys) c.*1072G>A (n.*1072G>A) c.4414G>A (p.Glu1472Lys) c.4315G>A (p.Glu1439Lys) c.4588G>A (p.Glu1530Lys) c.*2562G>A (n.*2562G>A) c.4255G>A (p.Glu1419Lys) c.667+3G>A (n.667+3G>A) c.4312G>A (p.Glu1438Lys) c.4129G>A (p.Glu1377Lys) n.6117G>A c.*2573G>A (n.*2573G>A) c.620+3G>A c.4177G>A (p.Glu1393Lys) c.587G>A c.3745G>A (p.Glu1249Lys) c.4141G>A (p.Glu1381Lys) c.2350G>A (p.Glu784Lys) c.4789+3G>A (n.4789+3G>A) c.4666G>A (p.Glu1556Lys) c.4609G>A (p.Glu1537Lys) c.4336G>A (p.Glu1446Lys) c.4210G>A (p.Glu1404Lys) c.4723G>A (p.Glu1575Lys) c.4657G>A (p.Glu1553Lys) c.4606+3G>A (n.4606+3G>A) c.4597G>A (p.Glu1533Lys) c.4483G>A (p.Glu1495Lys) c.4462G>A (p.Glu1488Lys) c.4333+3G>A (n.4333+3G>A) c.4324+3G>A (n.4324+3G>A) c.4267G>A (p.Glu1423Lys) c.4264+3G>A (n.4264+3G>A) c.4201G>A (p.Glu1401Lys) c.4198G>A (p.Glu1400Lys) c.4189G>A (p.Glu1397Lys) c.4186+3G>A (n.4186+3G>A) c.4132G>A (p.Glu1378Lys) c.4012+3G>A (n.4012+3G>A) c.4321+3G>A (n.4321+3G>A) | |
3 | g.77644898G>C | CA353533965 | ROBO2 | c.4324G>C (p.Glu1442Gln) c.4312+3G>C (n.4312+3G>C) c.4207+3G>C (n.4207+3G>C) c.4402G>C (p.Glu1468Gln) c.*1072G>C (n.*1072G>C) c.4414G>C (p.Glu1472Gln) c.4315G>C (p.Glu1439Gln) c.4588G>C (p.Glu1530Gln) c.*2562G>C (n.*2562G>C) c.4255G>C (p.Glu1419Gln) c.667+3G>C (n.667+3G>C) c.4312G>C (p.Glu1438Gln) c.4129G>C (p.Glu1377Gln) n.6117G>C c.*2573G>C (n.*2573G>C) c.620+3G>C c.4177G>C (p.Glu1393Gln) c.587G>C c.3745G>C (p.Glu1249Gln) c.4141G>C (p.Glu1381Gln) c.2350G>C (p.Glu784Gln) c.4789+3G>C (n.4789+3G>C) c.4666G>C (p.Glu1556Gln) c.4609G>C (p.Glu1537Gln) c.4336G>C (p.Glu1446Gln) c.4210G>C (p.Glu1404Gln) c.4723G>C (p.Glu1575Gln) c.4657G>C (p.Glu1553Gln) c.4606+3G>C (n.4606+3G>C) c.4597G>C (p.Glu1533Gln) c.4483G>C (p.Glu1495Gln) c.4462G>C (p.Glu1488Gln) c.4333+3G>C (n.4333+3G>C) c.4324+3G>C (n.4324+3G>C) c.4267G>C (p.Glu1423Gln) c.4264+3G>C (n.4264+3G>C) c.4201G>C (p.Glu1401Gln) c.4198G>C (p.Glu1400Gln) c.4189G>C (p.Glu1397Gln) c.4186+3G>C (n.4186+3G>C) c.4132G>C (p.Glu1378Gln) c.4012+3G>C (n.4012+3G>C) c.4321+3G>C (n.4321+3G>C) | |
3 | g.77644898G>T | CA353533963 | ROBO2 | c.4324G>T (p.Glu1442Ter) c.4312+3G>T (n.4312+3G>T) c.4207+3G>T (n.4207+3G>T) c.4402G>T (p.Glu1468Ter) c.*1072G>T (n.*1072G>T) c.4414G>T (p.Glu1472Ter) c.4315G>T (p.Glu1439Ter) c.4588G>T (p.Glu1530Ter) c.*2562G>T (n.*2562G>T) c.4255G>T (p.Glu1419Ter) c.667+3G>T (n.667+3G>T) c.4312G>T (p.Glu1438Ter) c.4129G>T (p.Glu1377Ter) n.6117G>T c.*2573G>T (n.*2573G>T) c.620+3G>T c.4177G>T (p.Glu1393Ter) c.587G>T c.3745G>T (p.Glu1249Ter) c.4141G>T (p.Glu1381Ter) c.2350G>T (p.Glu784Ter) c.4789+3G>T (n.4789+3G>T) c.4666G>T (p.Glu1556Ter) c.4609G>T (p.Glu1537Ter) c.4336G>T (p.Glu1446Ter) c.4210G>T (p.Glu1404Ter) c.4723G>T (p.Glu1575Ter) c.4657G>T (p.Glu1553Ter) c.4606+3G>T (n.4606+3G>T) c.4597G>T (p.Glu1533Ter) c.4483G>T (p.Glu1495Ter) c.4462G>T (p.Glu1488Ter) c.4333+3G>T (n.4333+3G>T) c.4324+3G>T (n.4324+3G>T) c.4267G>T (p.Glu1423Ter) c.4264+3G>T (n.4264+3G>T) c.4201G>T (p.Glu1401Ter) c.4198G>T (p.Glu1400Ter) c.4189G>T (p.Glu1397Ter) c.4186+3G>T (n.4186+3G>T) c.4132G>T (p.Glu1378Ter) c.4012+3G>T (n.4012+3G>T) c.4321+3G>T (n.4321+3G>T) | |
3 | g.77644899A>C | CA353533967 | ROBO2 | c.4325A>C (p.Glu1442Ala) c.4312+4A>C (n.4312+4A>C) c.4207+4A>C (n.4207+4A>C) c.4403A>C (p.Glu1468Ala) c.*1073A>C (n.*1073A>C) c.4415A>C (p.Glu1472Ala) c.4316A>C (p.Glu1439Ala) c.4589A>C (p.Glu1530Ala) c.*2563A>C (n.*2563A>C) c.4256A>C (p.Glu1419Ala) c.667+4A>C (n.667+4A>C) c.4313A>C (p.Glu1438Ala) c.4130A>C (p.Glu1377Ala) n.6118A>C c.*2574A>C (n.*2574A>C) c.620+4A>C c.4178A>C (p.Glu1393Ala) c.588A>C c.3746A>C (p.Glu1249Ala) c.4142A>C (p.Glu1381Ala) c.2351A>C (p.Glu784Ala) c.4789+4A>C (n.4789+4A>C) c.4667A>C (p.Glu1556Ala) c.4610A>C (p.Glu1537Ala) c.4337A>C (p.Glu1446Ala) c.4211A>C (p.Glu1404Ala) c.4724A>C (p.Glu1575Ala) c.4658A>C (p.Glu1553Ala) c.4606+4A>C (n.4606+4A>C) c.4598A>C (p.Glu1533Ala) c.4484A>C (p.Glu1495Ala) c.4463A>C (p.Glu1488Ala) c.4333+4A>C (n.4333+4A>C) c.4324+4A>C (n.4324+4A>C) c.4268A>C (p.Glu1423Ala) c.4264+4A>C (n.4264+4A>C) c.4202A>C (p.Glu1401Ala) c.4199A>C (p.Glu1400Ala) c.4190A>C (p.Glu1397Ala) c.4186+4A>C (n.4186+4A>C) c.4133A>C (p.Glu1378Ala) c.4012+4A>C (n.4012+4A>C) c.4321+4A>C (n.4321+4A>C) | |
3 | g.77644899A>G | CA353533968 | ROBO2 | c.4325A>G (p.Glu1442Gly) c.4312+4A>G (n.4312+4A>G) c.4207+4A>G (n.4207+4A>G) c.4403A>G (p.Glu1468Gly) c.*1073A>G (n.*1073A>G) c.4415A>G (p.Glu1472Gly) c.4316A>G (p.Glu1439Gly) c.4589A>G (p.Glu1530Gly) c.*2563A>G (n.*2563A>G) c.4256A>G (p.Glu1419Gly) c.667+4A>G (n.667+4A>G) c.4313A>G (p.Glu1438Gly) c.4130A>G (p.Glu1377Gly) n.6118A>G c.*2574A>G (n.*2574A>G) c.620+4A>G c.4178A>G (p.Glu1393Gly) c.588A>G c.3746A>G (p.Glu1249Gly) c.4142A>G (p.Glu1381Gly) c.2351A>G (p.Glu784Gly) c.4789+4A>G (n.4789+4A>G) c.4667A>G (p.Glu1556Gly) c.4610A>G (p.Glu1537Gly) c.4337A>G (p.Glu1446Gly) c.4211A>G (p.Glu1404Gly) c.4724A>G (p.Glu1575Gly) c.4658A>G (p.Glu1553Gly) c.4606+4A>G (n.4606+4A>G) c.4598A>G (p.Glu1533Gly) c.4484A>G (p.Glu1495Gly) c.4463A>G (p.Glu1488Gly) c.4333+4A>G (n.4333+4A>G) c.4324+4A>G (n.4324+4A>G) c.4268A>G (p.Glu1423Gly) c.4264+4A>G (n.4264+4A>G) c.4202A>G (p.Glu1401Gly) c.4199A>G (p.Glu1400Gly) c.4190A>G (p.Glu1397Gly) c.4186+4A>G (n.4186+4A>G) c.4133A>G (p.Glu1378Gly) c.4012+4A>G (n.4012+4A>G) c.4321+4A>G (n.4321+4A>G) | |
3 | g.77644899A>T | CA353533970 | ROBO2 | c.4325A>T (p.Glu1442Val) c.4312+4A>T (n.4312+4A>T) c.4207+4A>T (n.4207+4A>T) c.4403A>T (p.Glu1468Val) c.*1073A>T (n.*1073A>T) c.4415A>T (p.Glu1472Val) c.4316A>T (p.Glu1439Val) c.4589A>T (p.Glu1530Val) c.*2563A>T (n.*2563A>T) c.4256A>T (p.Glu1419Val) c.667+4A>T (n.667+4A>T) c.4313A>T (p.Glu1438Val) c.4130A>T (p.Glu1377Val) n.6118A>T c.*2574A>T (n.*2574A>T) c.620+4A>T c.4178A>T (p.Glu1393Val) c.588A>T c.3746A>T (p.Glu1249Val) c.4142A>T (p.Glu1381Val) c.2351A>T (p.Glu784Val) c.4789+4A>T (n.4789+4A>T) c.4667A>T (p.Glu1556Val) c.4610A>T (p.Glu1537Val) c.4337A>T (p.Glu1446Val) c.4211A>T (p.Glu1404Val) c.4724A>T (p.Glu1575Val) c.4658A>T (p.Glu1553Val) c.4606+4A>T (n.4606+4A>T) c.4598A>T (p.Glu1533Val) c.4484A>T (p.Glu1495Val) c.4463A>T (p.Glu1488Val) c.4333+4A>T (n.4333+4A>T) c.4324+4A>T (n.4324+4A>T) c.4268A>T (p.Glu1423Val) c.4264+4A>T (n.4264+4A>T) c.4202A>T (p.Glu1401Val) c.4199A>T (p.Glu1400Val) c.4190A>T (p.Glu1397Val) c.4186+4A>T (n.4186+4A>T) c.4133A>T (p.Glu1378Val) c.4012+4A>T (n.4012+4A>T) c.4321+4A>T (n.4321+4A>T) | |
3 | g.77644900A>C | CA353533971 | ROBO2 | c.4326A>C (p.Glu1442Asp) c.4312+5A>C (n.4312+5A>C) c.4207+5A>C (n.4207+5A>C) c.4404A>C (p.Glu1468Asp) c.*1074A>C (n.*1074A>C) c.4416A>C (p.Glu1472Asp) c.4317A>C (p.Glu1439Asp) c.4590A>C (p.Glu1530Asp) c.*2564A>C (n.*2564A>C) c.4257A>C (p.Glu1419Asp) c.667+5A>C (n.667+5A>C) c.4314A>C (p.Glu1438Asp) c.4131A>C (p.Glu1377Asp) n.6119A>C c.*2575A>C (n.*2575A>C) c.620+5A>C c.4179A>C (p.Glu1393Asp) c.589A>C c.3747A>C (p.Glu1249Asp) c.4143A>C (p.Glu1381Asp) c.2352A>C (p.Glu784Asp) c.4789+5A>C (n.4789+5A>C) c.4668A>C (p.Glu1556Asp) c.4611A>C (p.Glu1537Asp) c.4338A>C (p.Glu1446Asp) c.4212A>C (p.Glu1404Asp) c.4725A>C (p.Glu1575Asp) c.4659A>C (p.Glu1553Asp) c.4606+5A>C (n.4606+5A>C) c.4599A>C (p.Glu1533Asp) c.4485A>C (p.Glu1495Asp) c.4464A>C (p.Glu1488Asp) c.4333+5A>C (n.4333+5A>C) c.4324+5A>C (n.4324+5A>C) c.4269A>C (p.Glu1423Asp) c.4264+5A>C (n.4264+5A>C) c.4203A>C (p.Glu1401Asp) c.4200A>C (p.Glu1400Asp) c.4191A>C (p.Glu1397Asp) c.4186+5A>C (n.4186+5A>C) c.4134A>C (p.Glu1378Asp) c.4012+5A>C (n.4012+5A>C) c.4321+5A>C (n.4321+5A>C) | |
3 | g.77644900A>G | CA434435406 | ROBO2 | c.4326A>G (p.Glu1442=) c.4312+5A>G (n.4312+5A>G) c.4207+5A>G (n.4207+5A>G) c.4404A>G (p.Glu1468=) c.*1074A>G (n.*1074A>G) c.4416A>G (p.Glu1472=) c.4317A>G (p.Glu1439=) c.4590A>G (p.Glu1530=) c.*2564A>G (n.*2564A>G) c.4257A>G (p.Glu1419=) c.667+5A>G (n.667+5A>G) c.4314A>G (p.Glu1438=) c.4131A>G (p.Glu1377=) n.6119A>G c.*2575A>G (n.*2575A>G) c.620+5A>G c.4179A>G (p.Glu1393=) c.589A>G c.3747A>G (p.Glu1249=) c.4143A>G (p.Glu1381=) c.2352A>G (p.Glu784=) c.4789+5A>G (n.4789+5A>G) c.4668A>G (p.Glu1556=) c.4611A>G (p.Glu1537=) c.4338A>G (p.Glu1446=) c.4212A>G (p.Glu1404=) c.4725A>G (p.Glu1575=) c.4659A>G (p.Glu1553=) c.4606+5A>G (n.4606+5A>G) c.4599A>G (p.Glu1533=) c.4485A>G (p.Glu1495=) c.4464A>G (p.Glu1488=) c.4333+5A>G (n.4333+5A>G) c.4324+5A>G (n.4324+5A>G) c.4269A>G (p.Glu1423=) c.4264+5A>G (n.4264+5A>G) c.4203A>G (p.Glu1401=) c.4200A>G (p.Glu1400=) c.4191A>G (p.Glu1397=) c.4186+5A>G (n.4186+5A>G) c.4134A>G (p.Glu1378=) c.4012+5A>G (n.4012+5A>G) c.4321+5A>G (n.4321+5A>G) | gnomAD v4 |
3 | g.77644900A>T | CA353533972 | ROBO2 | c.4326A>T (p.Glu1442Asp) c.4312+5A>T (n.4312+5A>T) c.4207+5A>T (n.4207+5A>T) c.4404A>T (p.Glu1468Asp) c.*1074A>T (n.*1074A>T) c.4416A>T (p.Glu1472Asp) c.4317A>T (p.Glu1439Asp) c.4590A>T (p.Glu1530Asp) c.*2564A>T (n.*2564A>T) c.4257A>T (p.Glu1419Asp) c.667+5A>T (n.667+5A>T) c.4314A>T (p.Glu1438Asp) c.4131A>T (p.Glu1377Asp) n.6119A>T c.*2575A>T (n.*2575A>T) c.620+5A>T c.4179A>T (p.Glu1393Asp) c.589A>T c.3747A>T (p.Glu1249Asp) c.4143A>T (p.Glu1381Asp) c.2352A>T (p.Glu784Asp) c.4789+5A>T (n.4789+5A>T) c.4668A>T (p.Glu1556Asp) c.4611A>T (p.Glu1537Asp) c.4338A>T (p.Glu1446Asp) c.4212A>T (p.Glu1404Asp) c.4725A>T (p.Glu1575Asp) c.4659A>T (p.Glu1553Asp) c.4606+5A>T (n.4606+5A>T) c.4599A>T (p.Glu1533Asp) c.4485A>T (p.Glu1495Asp) c.4464A>T (p.Glu1488Asp) c.4333+5A>T (n.4333+5A>T) c.4324+5A>T (n.4324+5A>T) c.4269A>T (p.Glu1423Asp) c.4264+5A>T (n.4264+5A>T) c.4203A>T (p.Glu1401Asp) c.4200A>T (p.Glu1400Asp) c.4191A>T (p.Glu1397Asp) c.4186+5A>T (n.4186+5A>T) c.4134A>T (p.Glu1378Asp) c.4012+5A>T (n.4012+5A>T) c.4321+5A>T (n.4321+5A>T) | |
3 | g.77644901T>A | CA353533975 | ROBO2 | c.4327T>A (p.Leu1443Ile) c.4312+6T>A (n.4312+6T>A) c.4207+6T>A (n.4207+6T>A) c.4405T>A (p.Leu1469Ile) c.*1075T>A (n.*1075T>A) c.4417T>A (p.Leu1473Ile) c.4318T>A (p.Leu1440Ile) c.4591T>A (p.Leu1531Ile) c.*2565T>A (n.*2565T>A) c.4258T>A (p.Leu1420Ile) c.667+6T>A (n.667+6T>A) c.4315T>A (p.Leu1439Ile) c.4132T>A (p.Leu1378Ile) n.6120T>A c.*2576T>A (n.*2576T>A) c.620+6T>A c.4180T>A (p.Leu1394Ile) c.590T>A c.3748T>A (p.Leu1250Ile) c.4144T>A (p.Leu1382Ile) c.2353T>A (p.Leu785Ile) c.4789+6T>A (n.4789+6T>A) c.4669T>A (p.Leu1557Ile) c.4612T>A (p.Leu1538Ile) c.4339T>A (p.Leu1447Ile) c.4213T>A (p.Leu1405Ile) c.4726T>A (p.Leu1576Ile) c.4660T>A (p.Leu1554Ile) c.4606+6T>A (n.4606+6T>A) c.4600T>A (p.Leu1534Ile) c.4486T>A (p.Leu1496Ile) c.4465T>A (p.Leu1489Ile) c.4333+6T>A (n.4333+6T>A) c.4324+6T>A (n.4324+6T>A) c.4270T>A (p.Leu1424Ile) c.4264+6T>A (n.4264+6T>A) c.4204T>A (p.Leu1402Ile) c.4201T>A (p.Leu1401Ile) c.4192T>A (p.Leu1398Ile) c.4186+6T>A (n.4186+6T>A) c.4135T>A (p.Leu1379Ile) c.4012+6T>A (n.4012+6T>A) c.4321+6T>A (n.4321+6T>A) | |
3 | g.77644901T>C | CA434435407 | ROBO2 | c.4327T>C (p.Leu1443=) c.4312+6T>C (n.4312+6T>C) c.4207+6T>C (n.4207+6T>C) c.4405T>C (p.Leu1469=) c.*1075T>C (n.*1075T>C) c.4417T>C (p.Leu1473=) c.4318T>C (p.Leu1440=) c.4591T>C (p.Leu1531=) c.*2565T>C (n.*2565T>C) c.4258T>C (p.Leu1420=) c.667+6T>C (n.667+6T>C) c.4315T>C (p.Leu1439=) c.4132T>C (p.Leu1378=) n.6120T>C c.*2576T>C (n.*2576T>C) c.620+6T>C c.4180T>C (p.Leu1394=) c.590T>C c.3748T>C (p.Leu1250=) c.4144T>C (p.Leu1382=) c.2353T>C (p.Leu785=) c.4789+6T>C (n.4789+6T>C) c.4669T>C (p.Leu1557=) c.4612T>C (p.Leu1538=) c.4339T>C (p.Leu1447=) c.4213T>C (p.Leu1405=) c.4726T>C (p.Leu1576=) c.4660T>C (p.Leu1554=) c.4606+6T>C (n.4606+6T>C) c.4600T>C (p.Leu1534=) c.4486T>C (p.Leu1496=) c.4465T>C (p.Leu1489=) c.4333+6T>C (n.4333+6T>C) c.4324+6T>C (n.4324+6T>C) c.4270T>C (p.Leu1424=) c.4264+6T>C (n.4264+6T>C) c.4204T>C (p.Leu1402=) c.4201T>C (p.Leu1401=) c.4192T>C (p.Leu1398=) c.4186+6T>C (n.4186+6T>C) c.4135T>C (p.Leu1379=) c.4012+6T>C (n.4012+6T>C) c.4321+6T>C (n.4321+6T>C) | |
3 | g.77644901T>G | CA353533976 | ROBO2 | c.4327T>G (p.Leu1443Val) c.4312+6T>G (n.4312+6T>G) c.4207+6T>G (n.4207+6T>G) c.4405T>G (p.Leu1469Val) c.*1075T>G (n.*1075T>G) c.4417T>G (p.Leu1473Val) c.4318T>G (p.Leu1440Val) c.4591T>G (p.Leu1531Val) c.*2565T>G (n.*2565T>G) c.4258T>G (p.Leu1420Val) c.667+6T>G (n.667+6T>G) c.4315T>G (p.Leu1439Val) c.4132T>G (p.Leu1378Val) n.6120T>G c.*2576T>G (n.*2576T>G) c.620+6T>G c.4180T>G (p.Leu1394Val) c.590T>G c.3748T>G (p.Leu1250Val) c.4144T>G (p.Leu1382Val) c.2353T>G (p.Leu785Val) c.4789+6T>G (n.4789+6T>G) c.4669T>G (p.Leu1557Val) c.4612T>G (p.Leu1538Val) c.4339T>G (p.Leu1447Val) c.4213T>G (p.Leu1405Val) c.4726T>G (p.Leu1576Val) c.4660T>G (p.Leu1554Val) c.4606+6T>G (n.4606+6T>G) c.4600T>G (p.Leu1534Val) c.4486T>G (p.Leu1496Val) c.4465T>G (p.Leu1489Val) c.4333+6T>G (n.4333+6T>G) c.4324+6T>G (n.4324+6T>G) c.4270T>G (p.Leu1424Val) c.4264+6T>G (n.4264+6T>G) c.4204T>G (p.Leu1402Val) c.4201T>G (p.Leu1401Val) c.4192T>G (p.Leu1398Val) c.4186+6T>G (n.4186+6T>G) c.4135T>G (p.Leu1379Val) c.4012+6T>G (n.4012+6T>G) c.4321+6T>G (n.4321+6T>G) | |
3 | g.77644902T>A | CA353533978 | ROBO2 | c.4328T>A (p.Leu1443Ter) c.4312+7T>A (n.4312+7T>A) c.4207+7T>A (n.4207+7T>A) c.4406T>A (p.Leu1469Ter) c.*1076T>A (n.*1076T>A) c.4418T>A (p.Leu1473Ter) c.4319T>A (p.Leu1440Ter) c.4592T>A (p.Leu1531Ter) c.*2566T>A (n.*2566T>A) c.4259T>A (p.Leu1420Ter) c.667+7T>A (n.667+7T>A) c.4316T>A (p.Leu1439Ter) c.4133T>A (p.Leu1378Ter) n.6121T>A c.*2577T>A (n.*2577T>A) c.620+7T>A c.4181T>A (p.Leu1394Ter) c.591T>A c.3749T>A (p.Leu1250Ter) c.4145T>A (p.Leu1382Ter) c.2354T>A (p.Leu785Ter) c.4789+7T>A (n.4789+7T>A) c.4670T>A (p.Leu1557Ter) c.4613T>A (p.Leu1538Ter) c.4340T>A (p.Leu1447Ter) c.4214T>A (p.Leu1405Ter) c.4727T>A (p.Leu1576Ter) c.4661T>A (p.Leu1554Ter) c.4606+7T>A (n.4606+7T>A) c.4601T>A (p.Leu1534Ter) c.4487T>A (p.Leu1496Ter) c.4466T>A (p.Leu1489Ter) c.4333+7T>A (n.4333+7T>A) c.4324+7T>A (n.4324+7T>A) c.4271T>A (p.Leu1424Ter) c.4264+7T>A (n.4264+7T>A) c.4205T>A (p.Leu1402Ter) c.4202T>A (p.Leu1401Ter) c.4193T>A (p.Leu1398Ter) c.4186+7T>A (n.4186+7T>A) c.4136T>A (p.Leu1379Ter) c.4012+7T>A (n.4012+7T>A) c.4321+7T>A (n.4321+7T>A) | |
3 | g.77644902T>C | CA353533979 | ROBO2 | c.4328T>C (p.Leu1443Ser) c.4312+7T>C (n.4312+7T>C) c.4207+7T>C (n.4207+7T>C) c.4406T>C (p.Leu1469Ser) c.*1076T>C (n.*1076T>C) c.4418T>C (p.Leu1473Ser) c.4319T>C (p.Leu1440Ser) c.4592T>C (p.Leu1531Ser) c.*2566T>C (n.*2566T>C) c.4259T>C (p.Leu1420Ser) c.667+7T>C (n.667+7T>C) c.4316T>C (p.Leu1439Ser) c.4133T>C (p.Leu1378Ser) n.6121T>C c.*2577T>C (n.*2577T>C) c.620+7T>C c.4181T>C (p.Leu1394Ser) c.591T>C c.3749T>C (p.Leu1250Ser) c.4145T>C (p.Leu1382Ser) c.2354T>C (p.Leu785Ser) c.4789+7T>C (n.4789+7T>C) c.4670T>C (p.Leu1557Ser) c.4613T>C (p.Leu1538Ser) c.4340T>C (p.Leu1447Ser) c.4214T>C (p.Leu1405Ser) c.4727T>C (p.Leu1576Ser) c.4661T>C (p.Leu1554Ser) c.4606+7T>C (n.4606+7T>C) c.4601T>C (p.Leu1534Ser) c.4487T>C (p.Leu1496Ser) c.4466T>C (p.Leu1489Ser) c.4333+7T>C (n.4333+7T>C) c.4324+7T>C (n.4324+7T>C) c.4271T>C (p.Leu1424Ser) c.4264+7T>C (n.4264+7T>C) c.4205T>C (p.Leu1402Ser) c.4202T>C (p.Leu1401Ser) c.4193T>C (p.Leu1398Ser) c.4186+7T>C (n.4186+7T>C) c.4136T>C (p.Leu1379Ser) c.4012+7T>C (n.4012+7T>C) c.4321+7T>C (n.4321+7T>C) | |
3 | g.77644902T>G | CA353533981 | ROBO2 | c.4328T>G (p.Leu1443Ter) c.4312+7T>G (n.4312+7T>G) c.4207+7T>G (n.4207+7T>G) c.4406T>G (p.Leu1469Ter) c.*1076T>G (n.*1076T>G) c.4418T>G (p.Leu1473Ter) c.4319T>G (p.Leu1440Ter) c.4592T>G (p.Leu1531Ter) c.*2566T>G (n.*2566T>G) c.4259T>G (p.Leu1420Ter) c.667+7T>G (n.667+7T>G) c.4316T>G (p.Leu1439Ter) c.4133T>G (p.Leu1378Ter) n.6121T>G c.*2577T>G (n.*2577T>G) c.620+7T>G c.4181T>G (p.Leu1394Ter) c.591T>G c.3749T>G (p.Leu1250Ter) c.4145T>G (p.Leu1382Ter) c.2354T>G (p.Leu785Ter) c.4789+7T>G (n.4789+7T>G) c.4670T>G (p.Leu1557Ter) c.4613T>G (p.Leu1538Ter) c.4340T>G (p.Leu1447Ter) c.4214T>G (p.Leu1405Ter) c.4727T>G (p.Leu1576Ter) c.4661T>G (p.Leu1554Ter) c.4606+7T>G (n.4606+7T>G) c.4601T>G (p.Leu1534Ter) c.4487T>G (p.Leu1496Ter) c.4466T>G (p.Leu1489Ter) c.4333+7T>G (n.4333+7T>G) c.4324+7T>G (n.4324+7T>G) c.4271T>G (p.Leu1424Ter) c.4264+7T>G (n.4264+7T>G) c.4205T>G (p.Leu1402Ter) c.4202T>G (p.Leu1401Ter) c.4193T>G (p.Leu1398Ter) c.4186+7T>G (n.4186+7T>G) c.4136T>G (p.Leu1379Ter) c.4012+7T>G (n.4012+7T>G) c.4321+7T>G (n.4321+7T>G) | |
3 | g.77644903A>C | CA353533983 | ROBO2 | c.4329A>C (p.Leu1443Phe) c.4312+8A>C (n.4312+8A>C) c.4207+8A>C (n.4207+8A>C) c.4407A>C (p.Leu1469Phe) c.*1077A>C (n.*1077A>C) c.4419A>C (p.Leu1473Phe) c.4320A>C (p.Leu1440Phe) c.4593A>C (p.Leu1531Phe) c.*2567A>C (n.*2567A>C) c.4260A>C (p.Leu1420Phe) c.667+8A>C (n.667+8A>C) c.4317A>C (p.Leu1439Phe) c.4134A>C (p.Leu1378Phe) n.6122A>C c.*2578A>C (n.*2578A>C) c.620+8A>C c.4182A>C (p.Leu1394Phe) c.592A>C c.3750A>C (p.Leu1250Phe) c.4146A>C (p.Leu1382Phe) c.2355A>C (p.Leu785Phe) c.4789+8A>C (n.4789+8A>C) c.4671A>C (p.Leu1557Phe) c.4614A>C (p.Leu1538Phe) c.4341A>C (p.Leu1447Phe) c.4215A>C (p.Leu1405Phe) c.4728A>C (p.Leu1576Phe) c.4662A>C (p.Leu1554Phe) c.4606+8A>C (n.4606+8A>C) c.4602A>C (p.Leu1534Phe) c.4488A>C (p.Leu1496Phe) c.4467A>C (p.Leu1489Phe) c.4333+8A>C (n.4333+8A>C) c.4324+8A>C (n.4324+8A>C) c.4272A>C (p.Leu1424Phe) c.4264+8A>C (n.4264+8A>C) c.4206A>C (p.Leu1402Phe) c.4203A>C (p.Leu1401Phe) c.4194A>C (p.Leu1398Phe) c.4186+8A>C (n.4186+8A>C) c.4137A>C (p.Leu1379Phe) c.4012+8A>C (n.4012+8A>C) c.4321+8A>C (n.4321+8A>C) | |
3 | g.77644903A>G | CA434435409 | ROBO2 | c.4329A>G (p.Leu1443=) c.4312+8A>G (n.4312+8A>G) c.4207+8A>G (n.4207+8A>G) c.4407A>G (p.Leu1469=) c.*1077A>G (n.*1077A>G) c.4419A>G (p.Leu1473=) c.4320A>G (p.Leu1440=) c.4593A>G (p.Leu1531=) c.*2567A>G (n.*2567A>G) c.4260A>G (p.Leu1420=) c.667+8A>G (n.667+8A>G) c.4317A>G (p.Leu1439=) c.4134A>G (p.Leu1378=) n.6122A>G c.*2578A>G (n.*2578A>G) c.620+8A>G c.4182A>G (p.Leu1394=) c.592A>G c.3750A>G (p.Leu1250=) c.4146A>G (p.Leu1382=) c.2355A>G (p.Leu785=) c.4789+8A>G (n.4789+8A>G) c.4671A>G (p.Leu1557=) c.4614A>G (p.Leu1538=) c.4341A>G (p.Leu1447=) c.4215A>G (p.Leu1405=) c.4728A>G (p.Leu1576=) c.4662A>G (p.Leu1554=) c.4606+8A>G (n.4606+8A>G) c.4602A>G (p.Leu1534=) c.4488A>G (p.Leu1496=) c.4467A>G (p.Leu1489=) c.4333+8A>G (n.4333+8A>G) c.4324+8A>G (n.4324+8A>G) c.4272A>G (p.Leu1424=) c.4264+8A>G (n.4264+8A>G) c.4206A>G (p.Leu1402=) c.4203A>G (p.Leu1401=) c.4194A>G (p.Leu1398=) c.4186+8A>G (n.4186+8A>G) c.4137A>G (p.Leu1379=) c.4012+8A>G (n.4012+8A>G) c.4321+8A>G (n.4321+8A>G) | |
3 | g.77644903A>T | CA353533984 | ROBO2 | c.4329A>T (p.Leu1443Phe) c.4312+8A>T (n.4312+8A>T) c.4207+8A>T (n.4207+8A>T) c.4407A>T (p.Leu1469Phe) c.*1077A>T (n.*1077A>T) c.4419A>T (p.Leu1473Phe) c.4320A>T (p.Leu1440Phe) c.4593A>T (p.Leu1531Phe) c.*2567A>T (n.*2567A>T) c.4260A>T (p.Leu1420Phe) c.667+8A>T (n.667+8A>T) c.4317A>T (p.Leu1439Phe) c.4134A>T (p.Leu1378Phe) n.6122A>T c.*2578A>T (n.*2578A>T) c.620+8A>T c.4182A>T (p.Leu1394Phe) c.592A>T c.3750A>T (p.Leu1250Phe) c.4146A>T (p.Leu1382Phe) c.2355A>T (p.Leu785Phe) c.4789+8A>T (n.4789+8A>T) c.4671A>T (p.Leu1557Phe) c.4614A>T (p.Leu1538Phe) c.4341A>T (p.Leu1447Phe) c.4215A>T (p.Leu1405Phe) c.4728A>T (p.Leu1576Phe) c.4662A>T (p.Leu1554Phe) c.4606+8A>T (n.4606+8A>T) c.4602A>T (p.Leu1534Phe) c.4488A>T (p.Leu1496Phe) c.4467A>T (p.Leu1489Phe) c.4333+8A>T (n.4333+8A>T) c.4324+8A>T (n.4324+8A>T) c.4272A>T (p.Leu1424Phe) c.4264+8A>T (n.4264+8A>T) c.4206A>T (p.Leu1402Phe) c.4203A>T (p.Leu1401Phe) c.4194A>T (p.Leu1398Phe) c.4186+8A>T (n.4186+8A>T) c.4137A>T (p.Leu1379Phe) c.4012+8A>T (n.4012+8A>T) c.4321+8A>T (n.4321+8A>T) | |
3 | g.77644904T>A | CA353533990 | ROBO2 | c.4330T>A (p.Ter1444Lys) c.4312+9T>A (n.4312+9T>A) c.4207+9T>A (n.4207+9T>A) c.4408T>A (p.Ter1470Lys) c.*1078T>A (n.*1078T>A) c.4420T>A (p.Ter1474Lys) c.4321T>A (p.Ter1441Lys) c.4594T>A (p.Ter1532Lys) c.*2568T>A (n.*2568T>A) c.4261T>A (p.Ter1421Lys) c.667+9T>A (n.667+9T>A) c.4318T>A (p.Ter1440Lys) c.4135T>A (p.Ter1379Lys) n.6123T>A c.*2579T>A (n.*2579T>A) c.620+9T>A c.4183T>A (p.Ter1395Lys) c.593T>A c.3751T>A (p.Ter1251Lys) c.4147T>A (p.Ter1383Lys) c.2356T>A (p.Ter786Lys) c.4789+9T>A (n.4789+9T>A) c.4672T>A (p.Ter1558Lys) c.4615T>A (p.Ter1539Lys) c.4342T>A (p.Ter1448Lys) c.4216T>A (p.Ter1406Lys) c.4729T>A (p.Ter1577Lys) c.4663T>A (p.Ter1555Lys) c.4606+9T>A (n.4606+9T>A) c.4603T>A (p.Ter1535Lys) c.4489T>A (p.Ter1497Lys) c.4468T>A (p.Ter1490Lys) c.4333+9T>A (n.4333+9T>A) c.4324+9T>A (n.4324+9T>A) c.4273T>A (p.Ter1425Lys) c.4264+9T>A (n.4264+9T>A) c.4207T>A (p.Ter1403Lys) c.4204T>A (p.Ter1402Lys) c.4195T>A (p.Ter1399Lys) c.4186+9T>A (n.4186+9T>A) c.4138T>A (p.Ter1380Lys) c.4012+9T>A (n.4012+9T>A) c.4321+9T>A (n.4321+9T>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77644904T>C | CA353533987 | ROBO2 | c.4330T>C (p.Ter1444Gln) c.4312+9T>C (n.4312+9T>C) c.4207+9T>C (n.4207+9T>C) c.4408T>C (p.Ter1470Gln) c.*1078T>C (n.*1078T>C) c.4420T>C (p.Ter1474Gln) c.4321T>C (p.Ter1441Gln) c.4594T>C (p.Ter1532Gln) c.*2568T>C (n.*2568T>C) c.4261T>C (p.Ter1421Gln) c.667+9T>C (n.667+9T>C) c.4318T>C (p.Ter1440Gln) c.4135T>C (p.Ter1379Gln) n.6123T>C c.*2579T>C (n.*2579T>C) c.620+9T>C c.4183T>C (p.Ter1395Gln) c.593T>C c.3751T>C (p.Ter1251Gln) c.4147T>C (p.Ter1383Gln) c.2356T>C (p.Ter786Gln) c.4789+9T>C (n.4789+9T>C) c.4672T>C (p.Ter1558Gln) c.4615T>C (p.Ter1539Gln) c.4342T>C (p.Ter1448Gln) c.4216T>C (p.Ter1406Gln) c.4729T>C (p.Ter1577Gln) c.4663T>C (p.Ter1555Gln) c.4606+9T>C (n.4606+9T>C) c.4603T>C (p.Ter1535Gln) c.4489T>C (p.Ter1497Gln) c.4468T>C (p.Ter1490Gln) c.4333+9T>C (n.4333+9T>C) c.4324+9T>C (n.4324+9T>C) c.4273T>C (p.Ter1425Gln) c.4264+9T>C (n.4264+9T>C) c.4207T>C (p.Ter1403Gln) c.4204T>C (p.Ter1402Gln) c.4195T>C (p.Ter1399Gln) c.4186+9T>C (n.4186+9T>C) c.4138T>C (p.Ter1380Gln) c.4012+9T>C (n.4012+9T>C) c.4321+9T>C (n.4321+9T>C) | |
3 | g.77644904T>G | CA353533988 | ROBO2 | c.4330T>G (p.Ter1444Glu) c.4312+9T>G (n.4312+9T>G) c.4207+9T>G (n.4207+9T>G) c.4408T>G (p.Ter1470Glu) c.*1078T>G (n.*1078T>G) c.4420T>G (p.Ter1474Glu) c.4321T>G (p.Ter1441Glu) c.4594T>G (p.Ter1532Glu) c.*2568T>G (n.*2568T>G) c.4261T>G (p.Ter1421Glu) c.667+9T>G (n.667+9T>G) c.4318T>G (p.Ter1440Glu) c.4135T>G (p.Ter1379Glu) n.6123T>G c.*2579T>G (n.*2579T>G) c.620+9T>G c.4183T>G (p.Ter1395Glu) c.593T>G c.3751T>G (p.Ter1251Glu) c.4147T>G (p.Ter1383Glu) c.2356T>G (p.Ter786Glu) c.4789+9T>G (n.4789+9T>G) c.4672T>G (p.Ter1558Glu) c.4615T>G (p.Ter1539Glu) c.4342T>G (p.Ter1448Glu) c.4216T>G (p.Ter1406Glu) c.4729T>G (p.Ter1577Glu) c.4663T>G (p.Ter1555Glu) c.4606+9T>G (n.4606+9T>G) c.4603T>G (p.Ter1535Glu) c.4489T>G (p.Ter1497Glu) c.4468T>G (p.Ter1490Glu) c.4333+9T>G (n.4333+9T>G) c.4324+9T>G (n.4324+9T>G) c.4273T>G (p.Ter1425Glu) c.4264+9T>G (n.4264+9T>G) c.4207T>G (p.Ter1403Glu) c.4204T>G (p.Ter1402Glu) c.4195T>G (p.Ter1399Glu) c.4186+9T>G (n.4186+9T>G) c.4138T>G (p.Ter1380Glu) c.4012+9T>G (n.4012+9T>G) c.4321+9T>G (n.4321+9T>G) | |
3 | g.77644904T= | CA1376777996 | ROBO2 | c.4330T= (p.Ter1444=) c.4312+9T= (n.4312+9T=) c.4207+9T= (n.4207+9T=) c.4408T= (p.Ter1470=) c.*1078T= (n.*1078T=) c.4420T= (p.Ter1474=) c.4321T= (p.Ter1441=) c.4594T= (p.Ter1532=) c.*2568T= (n.*2568T=) c.4261T= (p.Ter1421=) c.667+9T= (n.667+9T=) c.4318T= (p.Ter1440=) c.4135T= (p.Ter1379=) n.6123T= c.*2579T= (n.*2579T=) c.620+9T= c.4183T= (p.Ter1395=) c.593T= c.3751T= (p.Ter1251=) c.4147T= (p.Ter1383=) c.2356T= (p.Ter786=) c.4789+9T= (n.4789+9T=) c.4672T= (p.Ter1558=) c.4615T= (p.Ter1539=) c.4342T= (p.Ter1448=) c.4216T= (p.Ter1406=) c.4729T= (p.Ter1577=) c.4663T= (p.Ter1555=) c.4606+9T= (n.4606+9T=) c.4603T= (p.Ter1535=) c.4489T= (p.Ter1497=) c.4468T= (p.Ter1490=) c.4333+9T= (n.4333+9T=) c.4324+9T= (n.4324+9T=) c.4273T= (p.Ter1425=) c.4264+9T= (n.4264+9T=) c.4207T= (p.Ter1403=) c.4204T= (p.Ter1402=) c.4195T= (p.Ter1399=) c.4186+9T= (n.4186+9T=) c.4138T= (p.Ter1380=) c.4012+9T= (n.4012+9T=) c.4321+9T= (n.4321+9T=) | |
3 | g.77644905G>A | CA2577824460 | ROBO2 | c.4330+1G>A (n.4330+1G>A) c.4312+10G>A (n.4312+10G>A) c.4207+10G>A (n.4207+10G>A) c.4408+1G>A (n.4408+1G>A) c.*1078+1G>A (n.*1078+1G>A) c.4420+1G>A (n.4420+1G>A) c.4321+1G>A (n.4321+1G>A) c.4594+1G>A (n.4594+1G>A) c.*2568+1G>A (n.*2568+1G>A) c.4261+1G>A (n.4261+1G>A) c.667+10G>A (n.667+10G>A) c.4318+1G>A (n.4318+1G>A) c.4135+1G>A (n.4135+1G>A) n.6123+1G>A c.*2579+1G>A (n.*2579+1G>A) c.620+10G>A c.4183+1G>A (n.4183+1G>A) c.593+1G>A c.3751+1G>A (n.3751+1G>A) c.4147+1G>A (n.4147+1G>A) c.2356+1G>A (n.2356+1G>A) c.4789+10G>A (n.4789+10G>A) c.4672+1G>A (n.4672+1G>A) c.4615+1G>A (n.4615+1G>A) c.4342+1G>A (n.4342+1G>A) c.4216+1G>A (n.4216+1G>A) c.4729+1G>A (n.4729+1G>A) c.4663+1G>A (n.4663+1G>A) c.4606+10G>A (n.4606+10G>A) c.4603+1G>A (n.4603+1G>A) c.4489+1G>A (n.4489+1G>A) c.4468+1G>A (n.4468+1G>A) c.4333+10G>A (n.4333+10G>A) c.4324+10G>A (n.4324+10G>A) c.4273+1G>A (n.4273+1G>A) c.4264+10G>A (n.4264+10G>A) c.4207+1G>A (n.4207+1G>A) c.4204+1G>A (n.4204+1G>A) c.4195+1G>A (n.4195+1G>A) c.4186+10G>A (n.4186+10G>A) c.4138+1G>A (n.4138+1G>A) c.4012+10G>A (n.4012+10G>A) c.4321+10G>A (n.4321+10G>A) | gnomAD v4 |
3 | g.77644906T>A | CA2666589404 | ROBO2 | c.4330+2T>A (n.4330+2T>A) c.4312+11T>A (n.4312+11T>A) c.4207+11T>A (n.4207+11T>A) c.4408+2T>A (n.4408+2T>A) c.*1078+2T>A (n.*1078+2T>A) c.4420+2T>A (n.4420+2T>A) c.4321+2T>A (n.4321+2T>A) c.4594+2T>A (n.4594+2T>A) c.*2568+2T>A (n.*2568+2T>A) c.4261+2T>A (n.4261+2T>A) c.667+11T>A (n.667+11T>A) c.4318+2T>A (n.4318+2T>A) c.4135+2T>A (n.4135+2T>A) n.6123+2T>A c.*2579+2T>A (n.*2579+2T>A) c.620+11T>A c.4183+2T>A (n.4183+2T>A) c.593+2T>A c.3751+2T>A (n.3751+2T>A) c.4147+2T>A (n.4147+2T>A) c.2356+2T>A (n.2356+2T>A) c.4789+11T>A (n.4789+11T>A) c.4672+2T>A (n.4672+2T>A) c.4615+2T>A (n.4615+2T>A) c.4342+2T>A (n.4342+2T>A) c.4216+2T>A (n.4216+2T>A) c.4729+2T>A (n.4729+2T>A) c.4663+2T>A (n.4663+2T>A) c.4606+11T>A (n.4606+11T>A) c.4603+2T>A (n.4603+2T>A) c.4489+2T>A (n.4489+2T>A) c.4468+2T>A (n.4468+2T>A) c.4333+11T>A (n.4333+11T>A) c.4324+11T>A (n.4324+11T>A) c.4273+2T>A (n.4273+2T>A) c.4264+11T>A (n.4264+11T>A) c.4207+2T>A (n.4207+2T>A) c.4204+2T>A (n.4204+2T>A) c.4195+2T>A (n.4195+2T>A) c.4186+11T>A (n.4186+11T>A) c.4138+2T>A (n.4138+2T>A) c.4012+11T>A (n.4012+11T>A) c.4321+11T>A (n.4321+11T>A) | gnomAD v4 |
3 | g.77644906T>C | CA2666589405 | ROBO2 | c.4330+2T>C (n.4330+2T>C) c.4312+11T>C (n.4312+11T>C) c.4207+11T>C (n.4207+11T>C) c.4408+2T>C (n.4408+2T>C) c.*1078+2T>C (n.*1078+2T>C) c.4420+2T>C (n.4420+2T>C) c.4321+2T>C (n.4321+2T>C) c.4594+2T>C (n.4594+2T>C) c.*2568+2T>C (n.*2568+2T>C) c.4261+2T>C (n.4261+2T>C) c.667+11T>C (n.667+11T>C) c.4318+2T>C (n.4318+2T>C) c.4135+2T>C (n.4135+2T>C) n.6123+2T>C c.*2579+2T>C (n.*2579+2T>C) c.620+11T>C c.4183+2T>C (n.4183+2T>C) c.593+2T>C c.3751+2T>C (n.3751+2T>C) c.4147+2T>C (n.4147+2T>C) c.2356+2T>C (n.2356+2T>C) c.4789+11T>C (n.4789+11T>C) c.4672+2T>C (n.4672+2T>C) c.4615+2T>C (n.4615+2T>C) c.4342+2T>C (n.4342+2T>C) c.4216+2T>C (n.4216+2T>C) c.4729+2T>C (n.4729+2T>C) c.4663+2T>C (n.4663+2T>C) c.4606+11T>C (n.4606+11T>C) c.4603+2T>C (n.4603+2T>C) c.4489+2T>C (n.4489+2T>C) c.4468+2T>C (n.4468+2T>C) c.4333+11T>C (n.4333+11T>C) c.4324+11T>C (n.4324+11T>C) c.4273+2T>C (n.4273+2T>C) c.4264+11T>C (n.4264+11T>C) c.4207+2T>C (n.4207+2T>C) c.4204+2T>C (n.4204+2T>C) c.4195+2T>C (n.4195+2T>C) c.4186+11T>C (n.4186+11T>C) c.4138+2T>C (n.4138+2T>C) c.4012+11T>C (n.4012+11T>C) c.4321+11T>C (n.4321+11T>C) | gnomAD v4 |
3 | g.77644909G>C | CA2497851 | ROBO2 | c.4330+5G>C (n.4330+5G>C) c.4312+14G>C (n.4312+14G>C) c.4207+14G>C (n.4207+14G>C) c.4408+5G>C (n.4408+5G>C) c.*1078+5G>C (n.*1078+5G>C) c.4420+5G>C (n.4420+5G>C) c.4321+5G>C (n.4321+5G>C) c.4594+5G>C (n.4594+5G>C) c.*2568+5G>C (n.*2568+5G>C) c.4261+5G>C (n.4261+5G>C) c.667+14G>C (n.667+14G>C) c.4318+5G>C (n.4318+5G>C) c.4135+5G>C (n.4135+5G>C) n.6123+5G>C c.*2579+5G>C (n.*2579+5G>C) c.620+14G>C c.4183+5G>C (n.4183+5G>C) c.593+5G>C c.3751+5G>C (n.3751+5G>C) c.4147+5G>C (n.4147+5G>C) c.2356+5G>C (n.2356+5G>C) c.4789+14G>C (n.4789+14G>C) c.4672+5G>C (n.4672+5G>C) c.4615+5G>C (n.4615+5G>C) c.4342+5G>C (n.4342+5G>C) c.4216+5G>C (n.4216+5G>C) c.4729+5G>C (n.4729+5G>C) c.4663+5G>C (n.4663+5G>C) c.4606+14G>C (n.4606+14G>C) c.4603+5G>C (n.4603+5G>C) c.4489+5G>C (n.4489+5G>C) c.4468+5G>C (n.4468+5G>C) c.4333+14G>C (n.4333+14G>C) c.4324+14G>C (n.4324+14G>C) c.4273+5G>C (n.4273+5G>C) c.4264+14G>C (n.4264+14G>C) c.4207+5G>C (n.4207+5G>C) c.4204+5G>C (n.4204+5G>C) c.4195+5G>C (n.4195+5G>C) c.4186+14G>C (n.4186+14G>C) c.4138+5G>C (n.4138+5G>C) c.4012+14G>C (n.4012+14G>C) c.4321+14G>C (n.4321+14G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644909G= | CA1376777997 | ROBO2 | c.4330+5G= (n.4330+5G=) c.4312+14G= (n.4312+14G=) c.4207+14G= (n.4207+14G=) c.4408+5G= (n.4408+5G=) c.*1078+5G= (n.*1078+5G=) c.4420+5G= (n.4420+5G=) c.4321+5G= (n.4321+5G=) c.4594+5G= (n.4594+5G=) c.*2568+5G= (n.*2568+5G=) c.4261+5G= (n.4261+5G=) c.667+14G= (n.667+14G=) c.4318+5G= (n.4318+5G=) c.4135+5G= (n.4135+5G=) n.6123+5G= c.*2579+5G= (n.*2579+5G=) c.620+14G= c.4183+5G= (n.4183+5G=) c.593+5G= c.3751+5G= (n.3751+5G=) c.4147+5G= (n.4147+5G=) c.2356+5G= (n.2356+5G=) c.4789+14G= (n.4789+14G=) c.4672+5G= (n.4672+5G=) c.4615+5G= (n.4615+5G=) c.4342+5G= (n.4342+5G=) c.4216+5G= (n.4216+5G=) c.4729+5G= (n.4729+5G=) c.4663+5G= (n.4663+5G=) c.4606+14G= (n.4606+14G=) c.4603+5G= (n.4603+5G=) c.4489+5G= (n.4489+5G=) c.4468+5G= (n.4468+5G=) c.4333+14G= (n.4333+14G=) c.4324+14G= (n.4324+14G=) c.4273+5G= (n.4273+5G=) c.4264+14G= (n.4264+14G=) c.4207+5G= (n.4207+5G=) c.4204+5G= (n.4204+5G=) c.4195+5G= (n.4195+5G=) c.4186+14G= (n.4186+14G=) c.4138+5G= (n.4138+5G=) c.4012+14G= (n.4012+14G=) c.4321+14G= (n.4321+14G=) | |
3 | g.77644910T>G | CA544501988 | ROBO2 | c.4330+6T>G (n.4330+6T>G) c.4312+15T>G (n.4312+15T>G) c.4207+15T>G (n.4207+15T>G) c.4408+6T>G (n.4408+6T>G) c.*1078+6T>G (n.*1078+6T>G) c.4420+6T>G (n.4420+6T>G) c.4321+6T>G (n.4321+6T>G) c.4594+6T>G (n.4594+6T>G) c.*2568+6T>G (n.*2568+6T>G) c.4261+6T>G (n.4261+6T>G) c.667+15T>G (n.667+15T>G) c.4318+6T>G (n.4318+6T>G) c.4135+6T>G (n.4135+6T>G) n.6123+6T>G c.*2579+6T>G (n.*2579+6T>G) c.620+15T>G c.4183+6T>G (n.4183+6T>G) c.593+6T>G c.3751+6T>G (n.3751+6T>G) c.4147+6T>G (n.4147+6T>G) c.2356+6T>G (n.2356+6T>G) c.4789+15T>G (n.4789+15T>G) c.4672+6T>G (n.4672+6T>G) c.4615+6T>G (n.4615+6T>G) c.4342+6T>G (n.4342+6T>G) c.4216+6T>G (n.4216+6T>G) c.4729+6T>G (n.4729+6T>G) c.4663+6T>G (n.4663+6T>G) c.4606+15T>G (n.4606+15T>G) c.4603+6T>G (n.4603+6T>G) c.4489+6T>G (n.4489+6T>G) c.4468+6T>G (n.4468+6T>G) c.4333+15T>G (n.4333+15T>G) c.4324+15T>G (n.4324+15T>G) c.4273+6T>G (n.4273+6T>G) c.4264+15T>G (n.4264+15T>G) c.4207+6T>G (n.4207+6T>G) c.4204+6T>G (n.4204+6T>G) c.4195+6T>G (n.4195+6T>G) c.4186+15T>G (n.4186+15T>G) c.4138+6T>G (n.4138+6T>G) c.4012+15T>G (n.4012+15T>G) c.4321+15T>G (n.4321+15T>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77644910T= | CA1376777998 | ROBO2 | c.4330+6T= (n.4330+6T=) c.4312+15T= (n.4312+15T=) c.4207+15T= (n.4207+15T=) c.4408+6T= (n.4408+6T=) c.*1078+6T= (n.*1078+6T=) c.4420+6T= (n.4420+6T=) c.4321+6T= (n.4321+6T=) c.4594+6T= (n.4594+6T=) c.*2568+6T= (n.*2568+6T=) c.4261+6T= (n.4261+6T=) c.667+15T= (n.667+15T=) c.4318+6T= (n.4318+6T=) c.4135+6T= (n.4135+6T=) n.6123+6T= c.*2579+6T= (n.*2579+6T=) c.620+15T= c.4183+6T= (n.4183+6T=) c.593+6T= c.3751+6T= (n.3751+6T=) c.4147+6T= (n.4147+6T=) c.2356+6T= (n.2356+6T=) c.4789+15T= (n.4789+15T=) c.4672+6T= (n.4672+6T=) c.4615+6T= (n.4615+6T=) c.4342+6T= (n.4342+6T=) c.4216+6T= (n.4216+6T=) c.4729+6T= (n.4729+6T=) c.4663+6T= (n.4663+6T=) c.4606+15T= (n.4606+15T=) c.4603+6T= (n.4603+6T=) c.4489+6T= (n.4489+6T=) c.4468+6T= (n.4468+6T=) c.4333+15T= (n.4333+15T=) c.4324+15T= (n.4324+15T=) c.4273+6T= (n.4273+6T=) c.4264+15T= (n.4264+15T=) c.4207+6T= (n.4207+6T=) c.4204+6T= (n.4204+6T=) c.4195+6T= (n.4195+6T=) c.4186+15T= (n.4186+15T=) c.4138+6T= (n.4138+6T=) c.4012+15T= (n.4012+15T=) c.4321+15T= (n.4321+15T=) | |
3 | g.77644911G>A | CA2702907257 | ROBO2 | c.4330+7G>A (n.4330+7G>A) c.4312+16G>A (n.4312+16G>A) c.4207+16G>A (n.4207+16G>A) c.4408+7G>A (n.4408+7G>A) c.*1078+7G>A (n.*1078+7G>A) c.4420+7G>A (n.4420+7G>A) c.4321+7G>A (n.4321+7G>A) c.4594+7G>A (n.4594+7G>A) c.*2568+7G>A (n.*2568+7G>A) c.4261+7G>A (n.4261+7G>A) c.667+16G>A (n.667+16G>A) c.4318+7G>A (n.4318+7G>A) c.4135+7G>A (n.4135+7G>A) n.6123+7G>A c.*2579+7G>A (n.*2579+7G>A) c.620+16G>A c.4183+7G>A (n.4183+7G>A) c.593+7G>A c.3751+7G>A (n.3751+7G>A) c.4147+7G>A (n.4147+7G>A) c.2356+7G>A (n.2356+7G>A) c.4789+16G>A (n.4789+16G>A) c.4672+7G>A (n.4672+7G>A) c.4615+7G>A (n.4615+7G>A) c.4342+7G>A (n.4342+7G>A) c.4216+7G>A (n.4216+7G>A) c.4729+7G>A (n.4729+7G>A) c.4663+7G>A (n.4663+7G>A) c.4606+16G>A (n.4606+16G>A) c.4603+7G>A (n.4603+7G>A) c.4489+7G>A (n.4489+7G>A) c.4468+7G>A (n.4468+7G>A) c.4333+16G>A (n.4333+16G>A) c.4324+16G>A (n.4324+16G>A) c.4273+7G>A (n.4273+7G>A) c.4264+16G>A (n.4264+16G>A) c.4207+7G>A (n.4207+7G>A) c.4204+7G>A (n.4204+7G>A) c.4195+7G>A (n.4195+7G>A) c.4186+16G>A (n.4186+16G>A) c.4138+7G>A (n.4138+7G>A) c.4012+16G>A (n.4012+16G>A) c.4321+16G>A (n.4321+16G>A) | dbSNP |
3 | g.77644911G= | CA1376777999 | ROBO2 | c.4330+7G= (n.4330+7G=) c.4312+16G= (n.4312+16G=) c.4207+16G= (n.4207+16G=) c.4408+7G= (n.4408+7G=) c.*1078+7G= (n.*1078+7G=) c.4420+7G= (n.4420+7G=) c.4321+7G= (n.4321+7G=) c.4594+7G= (n.4594+7G=) c.*2568+7G= (n.*2568+7G=) c.4261+7G= (n.4261+7G=) c.667+16G= (n.667+16G=) c.4318+7G= (n.4318+7G=) c.4135+7G= (n.4135+7G=) n.6123+7G= c.*2579+7G= (n.*2579+7G=) c.620+16G= c.4183+7G= (n.4183+7G=) c.593+7G= c.3751+7G= (n.3751+7G=) c.4147+7G= (n.4147+7G=) c.2356+7G= (n.2356+7G=) c.4789+16G= (n.4789+16G=) c.4672+7G= (n.4672+7G=) c.4615+7G= (n.4615+7G=) c.4342+7G= (n.4342+7G=) c.4216+7G= (n.4216+7G=) c.4729+7G= (n.4729+7G=) c.4663+7G= (n.4663+7G=) c.4606+16G= (n.4606+16G=) c.4603+7G= (n.4603+7G=) c.4489+7G= (n.4489+7G=) c.4468+7G= (n.4468+7G=) c.4333+16G= (n.4333+16G=) c.4324+16G= (n.4324+16G=) c.4273+7G= (n.4273+7G=) c.4264+16G= (n.4264+16G=) c.4207+7G= (n.4207+7G=) c.4204+7G= (n.4204+7G=) c.4195+7G= (n.4195+7G=) c.4186+16G= (n.4186+16G=) c.4138+7G= (n.4138+7G=) c.4012+16G= (n.4012+16G=) c.4321+16G= (n.4321+16G=) | |
3 | g.77644911G>T | CA1376778000 | ROBO2 | c.4330+7G>T (n.4330+7G>T) c.4312+16G>T (n.4312+16G>T) c.4207+16G>T (n.4207+16G>T) c.4408+7G>T (n.4408+7G>T) c.*1078+7G>T (n.*1078+7G>T) c.4420+7G>T (n.4420+7G>T) c.4321+7G>T (n.4321+7G>T) c.4594+7G>T (n.4594+7G>T) c.*2568+7G>T (n.*2568+7G>T) c.4261+7G>T (n.4261+7G>T) c.667+16G>T (n.667+16G>T) c.4318+7G>T (n.4318+7G>T) c.4135+7G>T (n.4135+7G>T) n.6123+7G>T c.*2579+7G>T (n.*2579+7G>T) c.620+16G>T c.4183+7G>T (n.4183+7G>T) c.593+7G>T c.3751+7G>T (n.3751+7G>T) c.4147+7G>T (n.4147+7G>T) c.2356+7G>T (n.2356+7G>T) c.4789+16G>T (n.4789+16G>T) c.4672+7G>T (n.4672+7G>T) c.4615+7G>T (n.4615+7G>T) c.4342+7G>T (n.4342+7G>T) c.4216+7G>T (n.4216+7G>T) c.4729+7G>T (n.4729+7G>T) c.4663+7G>T (n.4663+7G>T) c.4606+16G>T (n.4606+16G>T) c.4603+7G>T (n.4603+7G>T) c.4489+7G>T (n.4489+7G>T) c.4468+7G>T (n.4468+7G>T) c.4333+16G>T (n.4333+16G>T) c.4324+16G>T (n.4324+16G>T) c.4273+7G>T (n.4273+7G>T) c.4264+16G>T (n.4264+16G>T) c.4207+7G>T (n.4207+7G>T) c.4204+7G>T (n.4204+7G>T) c.4195+7G>T (n.4195+7G>T) c.4186+16G>T (n.4186+16G>T) c.4138+7G>T (n.4138+7G>T) c.4012+16G>T (n.4012+16G>T) c.4321+16G>T (n.4321+16G>T) | dbSNP |
3 | g.77644915A= | CA1376778001 | ROBO2 | c.4330+11A= (n.4330+11A=) c.4312+20A= (n.4312+20A=) c.4207+20A= (n.4207+20A=) c.4408+11A= (n.4408+11A=) c.*1078+11A= (n.*1078+11A=) c.4420+11A= (n.4420+11A=) c.4321+11A= (n.4321+11A=) c.4594+11A= (n.4594+11A=) c.*2568+11A= (n.*2568+11A=) c.4261+11A= (n.4261+11A=) c.667+20A= (n.667+20A=) c.4318+11A= (n.4318+11A=) c.4135+11A= (n.4135+11A=) n.6123+11A= c.*2579+11A= (n.*2579+11A=) c.620+20A= c.4183+11A= (n.4183+11A=) c.593+11A= c.3751+11A= (n.3751+11A=) c.4147+11A= (n.4147+11A=) c.2356+11A= (n.2356+11A=) c.4789+20A= (n.4789+20A=) c.4672+11A= (n.4672+11A=) c.4615+11A= (n.4615+11A=) c.4342+11A= (n.4342+11A=) c.4216+11A= (n.4216+11A=) c.4729+11A= (n.4729+11A=) c.4663+11A= (n.4663+11A=) c.4606+20A= (n.4606+20A=) c.4603+11A= (n.4603+11A=) c.4489+11A= (n.4489+11A=) c.4468+11A= (n.4468+11A=) c.4333+20A= (n.4333+20A=) c.4324+20A= (n.4324+20A=) c.4273+11A= (n.4273+11A=) c.4264+20A= (n.4264+20A=) c.4207+11A= (n.4207+11A=) c.4204+11A= (n.4204+11A=) c.4195+11A= (n.4195+11A=) c.4186+20A= (n.4186+20A=) c.4138+11A= (n.4138+11A=) c.4012+20A= (n.4012+20A=) c.4321+20A= (n.4321+20A=) | |
3 | g.77644915A>C | CA2497852 | ROBO2 | c.4330+11A>C (n.4330+11A>C) c.4312+20A>C (n.4312+20A>C) c.4207+20A>C (n.4207+20A>C) c.4408+11A>C (n.4408+11A>C) c.*1078+11A>C (n.*1078+11A>C) c.4420+11A>C (n.4420+11A>C) c.4321+11A>C (n.4321+11A>C) c.4594+11A>C (n.4594+11A>C) c.*2568+11A>C (n.*2568+11A>C) c.4261+11A>C (n.4261+11A>C) c.667+20A>C (n.667+20A>C) c.4318+11A>C (n.4318+11A>C) c.4135+11A>C (n.4135+11A>C) n.6123+11A>C c.*2579+11A>C (n.*2579+11A>C) c.620+20A>C c.4183+11A>C (n.4183+11A>C) c.593+11A>C c.3751+11A>C (n.3751+11A>C) c.4147+11A>C (n.4147+11A>C) c.2356+11A>C (n.2356+11A>C) c.4789+20A>C (n.4789+20A>C) c.4672+11A>C (n.4672+11A>C) c.4615+11A>C (n.4615+11A>C) c.4342+11A>C (n.4342+11A>C) c.4216+11A>C (n.4216+11A>C) c.4729+11A>C (n.4729+11A>C) c.4663+11A>C (n.4663+11A>C) c.4606+20A>C (n.4606+20A>C) c.4603+11A>C (n.4603+11A>C) c.4489+11A>C (n.4489+11A>C) c.4468+11A>C (n.4468+11A>C) c.4333+20A>C (n.4333+20A>C) c.4324+20A>C (n.4324+20A>C) c.4273+11A>C (n.4273+11A>C) c.4264+20A>C (n.4264+20A>C) c.4207+11A>C (n.4207+11A>C) c.4204+11A>C (n.4204+11A>C) c.4195+11A>C (n.4195+11A>C) c.4186+20A>C (n.4186+20A>C) c.4138+11A>C (n.4138+11A>C) c.4012+20A>C (n.4012+20A>C) c.4321+20A>C (n.4321+20A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644915A>G | CA2577824461 | ROBO2 | c.4330+11A>G (n.4330+11A>G) c.4312+20A>G (n.4312+20A>G) c.4207+20A>G (n.4207+20A>G) c.4408+11A>G (n.4408+11A>G) c.*1078+11A>G (n.*1078+11A>G) c.4420+11A>G (n.4420+11A>G) c.4321+11A>G (n.4321+11A>G) c.4594+11A>G (n.4594+11A>G) c.*2568+11A>G (n.*2568+11A>G) c.4261+11A>G (n.4261+11A>G) c.667+20A>G (n.667+20A>G) c.4318+11A>G (n.4318+11A>G) c.4135+11A>G (n.4135+11A>G) n.6123+11A>G c.*2579+11A>G (n.*2579+11A>G) c.620+20A>G c.4183+11A>G (n.4183+11A>G) c.593+11A>G c.3751+11A>G (n.3751+11A>G) c.4147+11A>G (n.4147+11A>G) c.2356+11A>G (n.2356+11A>G) c.4789+20A>G (n.4789+20A>G) c.4672+11A>G (n.4672+11A>G) c.4615+11A>G (n.4615+11A>G) c.4342+11A>G (n.4342+11A>G) c.4216+11A>G (n.4216+11A>G) c.4729+11A>G (n.4729+11A>G) c.4663+11A>G (n.4663+11A>G) c.4606+20A>G (n.4606+20A>G) c.4603+11A>G (n.4603+11A>G) c.4489+11A>G (n.4489+11A>G) c.4468+11A>G (n.4468+11A>G) c.4333+20A>G (n.4333+20A>G) c.4324+20A>G (n.4324+20A>G) c.4273+11A>G (n.4273+11A>G) c.4264+20A>G (n.4264+20A>G) c.4207+11A>G (n.4207+11A>G) c.4204+11A>G (n.4204+11A>G) c.4195+11A>G (n.4195+11A>G) c.4186+20A>G (n.4186+20A>G) c.4138+11A>G (n.4138+11A>G) c.4012+20A>G (n.4012+20A>G) c.4321+20A>G (n.4321+20A>G) | |
3 | g.77644915A>T | CA1376778002 | ROBO2 | c.4330+11A>T (n.4330+11A>T) c.4312+20A>T (n.4312+20A>T) c.4207+20A>T (n.4207+20A>T) c.4408+11A>T (n.4408+11A>T) c.*1078+11A>T (n.*1078+11A>T) c.4420+11A>T (n.4420+11A>T) c.4321+11A>T (n.4321+11A>T) c.4594+11A>T (n.4594+11A>T) c.*2568+11A>T (n.*2568+11A>T) c.4261+11A>T (n.4261+11A>T) c.667+20A>T (n.667+20A>T) c.4318+11A>T (n.4318+11A>T) c.4135+11A>T (n.4135+11A>T) n.6123+11A>T c.*2579+11A>T (n.*2579+11A>T) c.620+20A>T c.4183+11A>T (n.4183+11A>T) c.593+11A>T c.3751+11A>T (n.3751+11A>T) c.4147+11A>T (n.4147+11A>T) c.2356+11A>T (n.2356+11A>T) c.4789+20A>T (n.4789+20A>T) c.4672+11A>T (n.4672+11A>T) c.4615+11A>T (n.4615+11A>T) c.4342+11A>T (n.4342+11A>T) c.4216+11A>T (n.4216+11A>T) c.4729+11A>T (n.4729+11A>T) c.4663+11A>T (n.4663+11A>T) c.4606+20A>T (n.4606+20A>T) c.4603+11A>T (n.4603+11A>T) c.4489+11A>T (n.4489+11A>T) c.4468+11A>T (n.4468+11A>T) c.4333+20A>T (n.4333+20A>T) c.4324+20A>T (n.4324+20A>T) c.4273+11A>T (n.4273+11A>T) c.4264+20A>T (n.4264+20A>T) c.4207+11A>T (n.4207+11A>T) c.4204+11A>T (n.4204+11A>T) c.4195+11A>T (n.4195+11A>T) c.4186+20A>T (n.4186+20A>T) c.4138+11A>T (n.4138+11A>T) c.4012+20A>T (n.4012+20A>T) c.4321+20A>T (n.4321+20A>T) | dbSNP |
3 | g.77644916G>C | CA2497853 | ROBO2 | c.4330+12G>C (n.4330+12G>C) c.4312+21G>C (n.4312+21G>C) c.4207+21G>C (n.4207+21G>C) c.4408+12G>C (n.4408+12G>C) c.*1078+12G>C (n.*1078+12G>C) c.4420+12G>C (n.4420+12G>C) c.4321+12G>C (n.4321+12G>C) c.4594+12G>C (n.4594+12G>C) c.*2568+12G>C (n.*2568+12G>C) c.4261+12G>C (n.4261+12G>C) c.667+21G>C (n.667+21G>C) c.4318+12G>C (n.4318+12G>C) c.4135+12G>C (n.4135+12G>C) n.6123+12G>C c.*2579+12G>C (n.*2579+12G>C) c.620+21G>C c.4183+12G>C (n.4183+12G>C) c.593+12G>C c.3751+12G>C (n.3751+12G>C) c.4147+12G>C (n.4147+12G>C) c.2356+12G>C (n.2356+12G>C) c.4789+21G>C (n.4789+21G>C) c.4672+12G>C (n.4672+12G>C) c.4615+12G>C (n.4615+12G>C) c.4342+12G>C (n.4342+12G>C) c.4216+12G>C (n.4216+12G>C) c.4729+12G>C (n.4729+12G>C) c.4663+12G>C (n.4663+12G>C) c.4606+21G>C (n.4606+21G>C) c.4603+12G>C (n.4603+12G>C) c.4489+12G>C (n.4489+12G>C) c.4468+12G>C (n.4468+12G>C) c.4333+21G>C (n.4333+21G>C) c.4324+21G>C (n.4324+21G>C) c.4273+12G>C (n.4273+12G>C) c.4264+21G>C (n.4264+21G>C) c.4207+12G>C (n.4207+12G>C) c.4204+12G>C (n.4204+12G>C) c.4195+12G>C (n.4195+12G>C) c.4186+21G>C (n.4186+21G>C) c.4138+12G>C (n.4138+12G>C) c.4012+21G>C (n.4012+21G>C) c.4321+21G>C (n.4321+21G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644916G= | CA1376778003 | ROBO2 | c.4330+12G= (n.4330+12G=) c.4312+21G= (n.4312+21G=) c.4207+21G= (n.4207+21G=) c.4408+12G= (n.4408+12G=) c.*1078+12G= (n.*1078+12G=) c.4420+12G= (n.4420+12G=) c.4321+12G= (n.4321+12G=) c.4594+12G= (n.4594+12G=) c.*2568+12G= (n.*2568+12G=) c.4261+12G= (n.4261+12G=) c.667+21G= (n.667+21G=) c.4318+12G= (n.4318+12G=) c.4135+12G= (n.4135+12G=) n.6123+12G= c.*2579+12G= (n.*2579+12G=) c.620+21G= c.4183+12G= (n.4183+12G=) c.593+12G= c.3751+12G= (n.3751+12G=) c.4147+12G= (n.4147+12G=) c.2356+12G= (n.2356+12G=) c.4789+21G= (n.4789+21G=) c.4672+12G= (n.4672+12G=) c.4615+12G= (n.4615+12G=) c.4342+12G= (n.4342+12G=) c.4216+12G= (n.4216+12G=) c.4729+12G= (n.4729+12G=) c.4663+12G= (n.4663+12G=) c.4606+21G= (n.4606+21G=) c.4603+12G= (n.4603+12G=) c.4489+12G= (n.4489+12G=) c.4468+12G= (n.4468+12G=) c.4333+21G= (n.4333+21G=) c.4324+21G= (n.4324+21G=) c.4273+12G= (n.4273+12G=) c.4264+21G= (n.4264+21G=) c.4207+12G= (n.4207+12G=) c.4204+12G= (n.4204+12G=) c.4195+12G= (n.4195+12G=) c.4186+21G= (n.4186+21G=) c.4138+12G= (n.4138+12G=) c.4012+21G= (n.4012+21G=) c.4321+21G= (n.4321+21G=) | |
3 | g.77644916G>T | CA2666589406 | ROBO2 | c.4330+12G>T (n.4330+12G>T) c.4312+21G>T (n.4312+21G>T) c.4207+21G>T (n.4207+21G>T) c.4408+12G>T (n.4408+12G>T) c.*1078+12G>T (n.*1078+12G>T) c.4420+12G>T (n.4420+12G>T) c.4321+12G>T (n.4321+12G>T) c.4594+12G>T (n.4594+12G>T) c.*2568+12G>T (n.*2568+12G>T) c.4261+12G>T (n.4261+12G>T) c.667+21G>T (n.667+21G>T) c.4318+12G>T (n.4318+12G>T) c.4135+12G>T (n.4135+12G>T) n.6123+12G>T c.*2579+12G>T (n.*2579+12G>T) c.620+21G>T c.4183+12G>T (n.4183+12G>T) c.593+12G>T c.3751+12G>T (n.3751+12G>T) c.4147+12G>T (n.4147+12G>T) c.2356+12G>T (n.2356+12G>T) c.4789+21G>T (n.4789+21G>T) c.4672+12G>T (n.4672+12G>T) c.4615+12G>T (n.4615+12G>T) c.4342+12G>T (n.4342+12G>T) c.4216+12G>T (n.4216+12G>T) c.4729+12G>T (n.4729+12G>T) c.4663+12G>T (n.4663+12G>T) c.4606+21G>T (n.4606+21G>T) c.4603+12G>T (n.4603+12G>T) c.4489+12G>T (n.4489+12G>T) c.4468+12G>T (n.4468+12G>T) c.4333+21G>T (n.4333+21G>T) c.4324+21G>T (n.4324+21G>T) c.4273+12G>T (n.4273+12G>T) c.4264+21G>T (n.4264+21G>T) c.4207+12G>T (n.4207+12G>T) c.4204+12G>T (n.4204+12G>T) c.4195+12G>T (n.4195+12G>T) c.4186+21G>T (n.4186+21G>T) c.4138+12G>T (n.4138+12G>T) c.4012+21G>T (n.4012+21G>T) c.4321+21G>T (n.4321+21G>T) | gnomAD v4 |
3 | g.77644917G= | CA1376778004 | ROBO2 | c.4330+13G= (n.4330+13G=) c.4312+22G= (n.4312+22G=) c.4207+22G= (n.4207+22G=) c.4408+13G= (n.4408+13G=) c.*1078+13G= (n.*1078+13G=) c.4420+13G= (n.4420+13G=) c.4321+13G= (n.4321+13G=) c.4594+13G= (n.4594+13G=) c.*2568+13G= (n.*2568+13G=) c.4261+13G= (n.4261+13G=) c.667+22G= (n.667+22G=) c.4318+13G= (n.4318+13G=) c.4135+13G= (n.4135+13G=) n.6123+13G= c.*2579+13G= (n.*2579+13G=) c.620+22G= c.4183+13G= (n.4183+13G=) c.593+13G= c.3751+13G= (n.3751+13G=) c.4147+13G= (n.4147+13G=) c.2356+13G= (n.2356+13G=) c.4789+22G= (n.4789+22G=) c.4672+13G= (n.4672+13G=) c.4615+13G= (n.4615+13G=) c.4342+13G= (n.4342+13G=) c.4216+13G= (n.4216+13G=) c.4729+13G= (n.4729+13G=) c.4663+13G= (n.4663+13G=) c.4606+22G= (n.4606+22G=) c.4603+13G= (n.4603+13G=) c.4489+13G= (n.4489+13G=) c.4468+13G= (n.4468+13G=) c.4333+22G= (n.4333+22G=) c.4324+22G= (n.4324+22G=) c.4273+13G= (n.4273+13G=) c.4264+22G= (n.4264+22G=) c.4207+13G= (n.4207+13G=) c.4204+13G= (n.4204+13G=) c.4195+13G= (n.4195+13G=) c.4186+22G= (n.4186+22G=) c.4138+13G= (n.4138+13G=) c.4012+22G= (n.4012+22G=) c.4321+22G= (n.4321+22G=) | |
3 | g.77644917G>T | CA2497854 | ROBO2 | c.4330+13G>T (n.4330+13G>T) c.4312+22G>T (n.4312+22G>T) c.4207+22G>T (n.4207+22G>T) c.4408+13G>T (n.4408+13G>T) c.*1078+13G>T (n.*1078+13G>T) c.4420+13G>T (n.4420+13G>T) c.4321+13G>T (n.4321+13G>T) c.4594+13G>T (n.4594+13G>T) c.*2568+13G>T (n.*2568+13G>T) c.4261+13G>T (n.4261+13G>T) c.667+22G>T (n.667+22G>T) c.4318+13G>T (n.4318+13G>T) c.4135+13G>T (n.4135+13G>T) n.6123+13G>T c.*2579+13G>T (n.*2579+13G>T) c.620+22G>T c.4183+13G>T (n.4183+13G>T) c.593+13G>T c.3751+13G>T (n.3751+13G>T) c.4147+13G>T (n.4147+13G>T) c.2356+13G>T (n.2356+13G>T) c.4789+22G>T (n.4789+22G>T) c.4672+13G>T (n.4672+13G>T) c.4615+13G>T (n.4615+13G>T) c.4342+13G>T (n.4342+13G>T) c.4216+13G>T (n.4216+13G>T) c.4729+13G>T (n.4729+13G>T) c.4663+13G>T (n.4663+13G>T) c.4606+22G>T (n.4606+22G>T) c.4603+13G>T (n.4603+13G>T) c.4489+13G>T (n.4489+13G>T) c.4468+13G>T (n.4468+13G>T) c.4333+22G>T (n.4333+22G>T) c.4324+22G>T (n.4324+22G>T) c.4273+13G>T (n.4273+13G>T) c.4264+22G>T (n.4264+22G>T) c.4207+13G>T (n.4207+13G>T) c.4204+13G>T (n.4204+13G>T) c.4195+13G>T (n.4195+13G>T) c.4186+22G>T (n.4186+22G>T) c.4138+13G>T (n.4138+13G>T) c.4012+22G>T (n.4012+22G>T) c.4321+22G>T (n.4321+22G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644918T>C | CA2666589407 | ROBO2 | c.4330+14T>C (n.4330+14T>C) c.4312+23T>C (n.4312+23T>C) c.4207+23T>C (n.4207+23T>C) c.4408+14T>C (n.4408+14T>C) c.*1078+14T>C (n.*1078+14T>C) c.4420+14T>C (n.4420+14T>C) c.4321+14T>C (n.4321+14T>C) c.4594+14T>C (n.4594+14T>C) c.*2568+14T>C (n.*2568+14T>C) c.4261+14T>C (n.4261+14T>C) c.667+23T>C (n.667+23T>C) c.4318+14T>C (n.4318+14T>C) c.4135+14T>C (n.4135+14T>C) n.6123+14T>C c.*2579+14T>C (n.*2579+14T>C) c.620+23T>C c.4183+14T>C (n.4183+14T>C) c.593+14T>C c.3751+14T>C (n.3751+14T>C) c.4147+14T>C (n.4147+14T>C) c.2356+14T>C (n.2356+14T>C) c.4789+23T>C (n.4789+23T>C) c.4672+14T>C (n.4672+14T>C) c.4615+14T>C (n.4615+14T>C) c.4342+14T>C (n.4342+14T>C) c.4216+14T>C (n.4216+14T>C) c.4729+14T>C (n.4729+14T>C) c.4663+14T>C (n.4663+14T>C) c.4606+23T>C (n.4606+23T>C) c.4603+14T>C (n.4603+14T>C) c.4489+14T>C (n.4489+14T>C) c.4468+14T>C (n.4468+14T>C) c.4333+23T>C (n.4333+23T>C) c.4324+23T>C (n.4324+23T>C) c.4273+14T>C (n.4273+14T>C) c.4264+23T>C (n.4264+23T>C) c.4207+14T>C (n.4207+14T>C) c.4204+14T>C (n.4204+14T>C) c.4195+14T>C (n.4195+14T>C) c.4186+23T>C (n.4186+23T>C) c.4138+14T>C (n.4138+14T>C) c.4012+23T>C (n.4012+23T>C) c.4321+23T>C (n.4321+23T>C) | gnomAD v4 |
3 | g.77644918T>G | CA2497855 | ROBO2 | c.4330+14T>G (n.4330+14T>G) c.4312+23T>G (n.4312+23T>G) c.4207+23T>G (n.4207+23T>G) c.4408+14T>G (n.4408+14T>G) c.*1078+14T>G (n.*1078+14T>G) c.4420+14T>G (n.4420+14T>G) c.4321+14T>G (n.4321+14T>G) c.4594+14T>G (n.4594+14T>G) c.*2568+14T>G (n.*2568+14T>G) c.4261+14T>G (n.4261+14T>G) c.667+23T>G (n.667+23T>G) c.4318+14T>G (n.4318+14T>G) c.4135+14T>G (n.4135+14T>G) n.6123+14T>G c.*2579+14T>G (n.*2579+14T>G) c.620+23T>G c.4183+14T>G (n.4183+14T>G) c.593+14T>G c.3751+14T>G (n.3751+14T>G) c.4147+14T>G (n.4147+14T>G) c.2356+14T>G (n.2356+14T>G) c.4789+23T>G (n.4789+23T>G) c.4672+14T>G (n.4672+14T>G) c.4615+14T>G (n.4615+14T>G) c.4342+14T>G (n.4342+14T>G) c.4216+14T>G (n.4216+14T>G) c.4729+14T>G (n.4729+14T>G) c.4663+14T>G (n.4663+14T>G) c.4606+23T>G (n.4606+23T>G) c.4603+14T>G (n.4603+14T>G) c.4489+14T>G (n.4489+14T>G) c.4468+14T>G (n.4468+14T>G) c.4333+23T>G (n.4333+23T>G) c.4324+23T>G (n.4324+23T>G) c.4273+14T>G (n.4273+14T>G) c.4264+23T>G (n.4264+23T>G) c.4207+14T>G (n.4207+14T>G) c.4204+14T>G (n.4204+14T>G) c.4195+14T>G (n.4195+14T>G) c.4186+23T>G (n.4186+23T>G) c.4138+14T>G (n.4138+14T>G) c.4012+23T>G (n.4012+23T>G) c.4321+23T>G (n.4321+23T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77644918T= | CA1376778006 | ROBO2 | c.4330+14T= (n.4330+14T=) c.4312+23T= (n.4312+23T=) c.4207+23T= (n.4207+23T=) c.4408+14T= (n.4408+14T=) c.*1078+14T= (n.*1078+14T=) c.4420+14T= (n.4420+14T=) c.4321+14T= (n.4321+14T=) c.4594+14T= (n.4594+14T=) c.*2568+14T= (n.*2568+14T=) c.4261+14T= (n.4261+14T=) c.667+23T= (n.667+23T=) c.4318+14T= (n.4318+14T=) c.4135+14T= (n.4135+14T=) n.6123+14T= c.*2579+14T= (n.*2579+14T=) c.620+23T= c.4183+14T= (n.4183+14T=) c.593+14T= c.3751+14T= (n.3751+14T=) c.4147+14T= (n.4147+14T=) c.2356+14T= (n.2356+14T=) c.4789+23T= (n.4789+23T=) c.4672+14T= (n.4672+14T=) c.4615+14T= (n.4615+14T=) c.4342+14T= (n.4342+14T=) c.4216+14T= (n.4216+14T=) c.4729+14T= (n.4729+14T=) c.4663+14T= (n.4663+14T=) c.4606+23T= (n.4606+23T=) c.4603+14T= (n.4603+14T=) c.4489+14T= (n.4489+14T=) c.4468+14T= (n.4468+14T=) c.4333+23T= (n.4333+23T=) c.4324+23T= (n.4324+23T=) c.4273+14T= (n.4273+14T=) c.4264+23T= (n.4264+23T=) c.4207+14T= (n.4207+14T=) c.4204+14T= (n.4204+14T=) c.4195+14T= (n.4195+14T=) c.4186+23T= (n.4186+23T=) c.4138+14T= (n.4138+14T=) c.4012+23T= (n.4012+23T=) c.4321+23T= (n.4321+23T=) | |
3 | g.77644919_77644923dup | CA1376778005 | ROBO2 | c.4330+15_4330+19dup (n.4330+15_4330+19dup) c.4312+24_4312+28dup (n.4312+24_4312+28dup) c.4207+24_4207+28dup (n.4207+24_4207+28dup) c.4408+15_4408+19dup (n.4408+15_4408+19dup) c.*1078+15_*1078+19dup (n.*1078+15_*1078+19dup) c.4420+15_4420+19dup (n.4420+15_4420+19dup) c.4321+15_4321+19dup (n.4321+15_4321+19dup) c.4594+15_4594+19dup (n.4594+15_4594+19dup) c.*2568+15_*2568+19dup (n.*2568+15_*2568+19dup) c.4261+15_4261+19dup (n.4261+15_4261+19dup) c.667+24_667+28dup (n.667+24_667+28dup) c.4318+15_4318+19dup (n.4318+15_4318+19dup) c.4135+15_4135+19dup (n.4135+15_4135+19dup) n.6123+15_6123+19dup c.*2579+15_*2579+19dup (n.*2579+15_*2579+19dup) c.620+24_620+28dup c.4183+15_4183+19dup (n.4183+15_4183+19dup) c.593+15_593+19dup c.3751+15_3751+19dup (n.3751+15_3751+19dup) c.4147+15_4147+19dup (n.4147+15_4147+19dup) c.2356+15_2356+19dup (n.2356+15_2356+19dup) c.4789+24_4789+28dup (n.4789+24_4789+28dup) c.4672+15_4672+19dup (n.4672+15_4672+19dup) c.4615+15_4615+19dup (n.4615+15_4615+19dup) c.4342+15_4342+19dup (n.4342+15_4342+19dup) c.4216+15_4216+19dup (n.4216+15_4216+19dup) c.4729+15_4729+19dup (n.4729+15_4729+19dup) c.4663+15_4663+19dup (n.4663+15_4663+19dup) c.4606+24_4606+28dup (n.4606+24_4606+28dup) c.4603+15_4603+19dup (n.4603+15_4603+19dup) c.4489+15_4489+19dup (n.4489+15_4489+19dup) c.4468+15_4468+19dup (n.4468+15_4468+19dup) c.4333+24_4333+28dup (n.4333+24_4333+28dup) c.4324+24_4324+28dup (n.4324+24_4324+28dup) c.4273+15_4273+19dup (n.4273+15_4273+19dup) c.4264+24_4264+28dup (n.4264+24_4264+28dup) c.4207+15_4207+19dup (n.4207+15_4207+19dup) c.4204+15_4204+19dup (n.4204+15_4204+19dup) c.4195+15_4195+19dup (n.4195+15_4195+19dup) c.4186+24_4186+28dup (n.4186+24_4186+28dup) c.4138+15_4138+19dup (n.4138+15_4138+19dup) c.4012+24_4012+28dup (n.4012+24_4012+28dup) c.4321+24_4321+28dup (n.4321+24_4321+28dup) | dbSNP |
3 | g.77644919C>A | CA2666589408 | ROBO2 | c.4330+15C>A (n.4330+15C>A) c.4312+24C>A (n.4312+24C>A) c.4207+24C>A (n.4207+24C>A) c.4408+15C>A (n.4408+15C>A) c.*1078+15C>A (n.*1078+15C>A) c.4420+15C>A (n.4420+15C>A) c.4321+15C>A (n.4321+15C>A) c.4594+15C>A (n.4594+15C>A) c.*2568+15C>A (n.*2568+15C>A) c.4261+15C>A (n.4261+15C>A) c.667+24C>A (n.667+24C>A) c.4318+15C>A (n.4318+15C>A) c.4135+15C>A (n.4135+15C>A) n.6123+15C>A c.*2579+15C>A (n.*2579+15C>A) c.620+24C>A c.4183+15C>A (n.4183+15C>A) c.593+15C>A c.3751+15C>A (n.3751+15C>A) c.4147+15C>A (n.4147+15C>A) c.2356+15C>A (n.2356+15C>A) c.4789+24C>A (n.4789+24C>A) c.4672+15C>A (n.4672+15C>A) c.4615+15C>A (n.4615+15C>A) c.4342+15C>A (n.4342+15C>A) c.4216+15C>A (n.4216+15C>A) c.4729+15C>A (n.4729+15C>A) c.4663+15C>A (n.4663+15C>A) c.4606+24C>A (n.4606+24C>A) c.4603+15C>A (n.4603+15C>A) c.4489+15C>A (n.4489+15C>A) c.4468+15C>A (n.4468+15C>A) c.4333+24C>A (n.4333+24C>A) c.4324+24C>A (n.4324+24C>A) c.4273+15C>A (n.4273+15C>A) c.4264+24C>A (n.4264+24C>A) c.4207+15C>A (n.4207+15C>A) c.4204+15C>A (n.4204+15C>A) c.4195+15C>A (n.4195+15C>A) c.4186+24C>A (n.4186+24C>A) c.4138+15C>A (n.4138+15C>A) c.4012+24C>A (n.4012+24C>A) c.4321+24C>A (n.4321+24C>A) | gnomAD v4 |
3 | g.77644919C= | CA1376778007 | ROBO2 | c.4330+15C= (n.4330+15C=) c.4312+24C= (n.4312+24C=) c.4207+24C= (n.4207+24C=) c.4408+15C= (n.4408+15C=) c.*1078+15C= (n.*1078+15C=) c.4420+15C= (n.4420+15C=) c.4321+15C= (n.4321+15C=) c.4594+15C= (n.4594+15C=) c.*2568+15C= (n.*2568+15C=) c.4261+15C= (n.4261+15C=) c.667+24C= (n.667+24C=) c.4318+15C= (n.4318+15C=) c.4135+15C= (n.4135+15C=) n.6123+15C= c.*2579+15C= (n.*2579+15C=) c.620+24C= c.4183+15C= (n.4183+15C=) c.593+15C= c.3751+15C= (n.3751+15C=) c.4147+15C= (n.4147+15C=) c.2356+15C= (n.2356+15C=) c.4789+24C= (n.4789+24C=) c.4672+15C= (n.4672+15C=) c.4615+15C= (n.4615+15C=) c.4342+15C= (n.4342+15C=) c.4216+15C= (n.4216+15C=) c.4729+15C= (n.4729+15C=) c.4663+15C= (n.4663+15C=) c.4606+24C= (n.4606+24C=) c.4603+15C= (n.4603+15C=) c.4489+15C= (n.4489+15C=) c.4468+15C= (n.4468+15C=) c.4333+24C= (n.4333+24C=) c.4324+24C= (n.4324+24C=) c.4273+15C= (n.4273+15C=) c.4264+24C= (n.4264+24C=) c.4207+15C= (n.4207+15C=) c.4204+15C= (n.4204+15C=) c.4195+15C= (n.4195+15C=) c.4186+24C= (n.4186+24C=) c.4138+15C= (n.4138+15C=) c.4012+24C= (n.4012+24C=) c.4321+24C= (n.4321+24C=) | |
3 | g.77644919C>T | CA544501989 | ROBO2 | c.4330+15C>T (n.4330+15C>T) c.4312+24C>T (n.4312+24C>T) c.4207+24C>T (n.4207+24C>T) c.4408+15C>T (n.4408+15C>T) c.*1078+15C>T (n.*1078+15C>T) c.4420+15C>T (n.4420+15C>T) c.4321+15C>T (n.4321+15C>T) c.4594+15C>T (n.4594+15C>T) c.*2568+15C>T (n.*2568+15C>T) c.4261+15C>T (n.4261+15C>T) c.667+24C>T (n.667+24C>T) c.4318+15C>T (n.4318+15C>T) c.4135+15C>T (n.4135+15C>T) n.6123+15C>T c.*2579+15C>T (n.*2579+15C>T) c.620+24C>T c.4183+15C>T (n.4183+15C>T) c.593+15C>T c.3751+15C>T (n.3751+15C>T) c.4147+15C>T (n.4147+15C>T) c.2356+15C>T (n.2356+15C>T) c.4789+24C>T (n.4789+24C>T) c.4672+15C>T (n.4672+15C>T) c.4615+15C>T (n.4615+15C>T) c.4342+15C>T (n.4342+15C>T) c.4216+15C>T (n.4216+15C>T) c.4729+15C>T (n.4729+15C>T) c.4663+15C>T (n.4663+15C>T) c.4606+24C>T (n.4606+24C>T) c.4603+15C>T (n.4603+15C>T) c.4489+15C>T (n.4489+15C>T) c.4468+15C>T (n.4468+15C>T) c.4333+24C>T (n.4333+24C>T) c.4324+24C>T (n.4324+24C>T) c.4273+15C>T (n.4273+15C>T) c.4264+24C>T (n.4264+24C>T) c.4207+15C>T (n.4207+15C>T) c.4204+15C>T (n.4204+15C>T) c.4195+15C>T (n.4195+15C>T) c.4186+24C>T (n.4186+24C>T) c.4138+15C>T (n.4138+15C>T) c.4012+24C>T (n.4012+24C>T) c.4321+24C>T (n.4321+24C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77644920A= | CA1376778008 | ROBO2 | c.4330+16A= (n.4330+16A=) c.4312+25A= (n.4312+25A=) c.4207+25A= (n.4207+25A=) c.4408+16A= (n.4408+16A=) c.*1078+16A= (n.*1078+16A=) c.4420+16A= (n.4420+16A=) c.4321+16A= (n.4321+16A=) c.4594+16A= (n.4594+16A=) c.*2568+16A= (n.*2568+16A=) c.4261+16A= (n.4261+16A=) c.667+25A= (n.667+25A=) c.4318+16A= (n.4318+16A=) c.4135+16A= (n.4135+16A=) n.6123+16A= c.*2579+16A= (n.*2579+16A=) c.620+25A= c.4183+16A= (n.4183+16A=) c.593+16A= c.3751+16A= (n.3751+16A=) c.4147+16A= (n.4147+16A=) c.2356+16A= (n.2356+16A=) c.4789+25A= (n.4789+25A=) c.4672+16A= (n.4672+16A=) c.4615+16A= (n.4615+16A=) c.4342+16A= (n.4342+16A=) c.4216+16A= (n.4216+16A=) c.4729+16A= (n.4729+16A=) c.4663+16A= (n.4663+16A=) c.4606+25A= (n.4606+25A=) c.4603+16A= (n.4603+16A=) c.4489+16A= (n.4489+16A=) c.4468+16A= (n.4468+16A=) c.4333+25A= (n.4333+25A=) c.4324+25A= (n.4324+25A=) c.4273+16A= (n.4273+16A=) c.4264+25A= (n.4264+25A=) c.4207+16A= (n.4207+16A=) c.4204+16A= (n.4204+16A=) c.4195+16A= (n.4195+16A=) c.4186+25A= (n.4186+25A=) c.4138+16A= (n.4138+16A=) c.4012+25A= (n.4012+25A=) c.4321+25A= (n.4321+25A=) | |
3 | g.77644920A>G | CA2497856 | ROBO2 | c.4330+16A>G (n.4330+16A>G) c.4312+25A>G (n.4312+25A>G) c.4207+25A>G (n.4207+25A>G) c.4408+16A>G (n.4408+16A>G) c.*1078+16A>G (n.*1078+16A>G) c.4420+16A>G (n.4420+16A>G) c.4321+16A>G (n.4321+16A>G) c.4594+16A>G (n.4594+16A>G) c.*2568+16A>G (n.*2568+16A>G) c.4261+16A>G (n.4261+16A>G) c.667+25A>G (n.667+25A>G) c.4318+16A>G (n.4318+16A>G) c.4135+16A>G (n.4135+16A>G) n.6123+16A>G c.*2579+16A>G (n.*2579+16A>G) c.620+25A>G c.4183+16A>G (n.4183+16A>G) c.593+16A>G c.3751+16A>G (n.3751+16A>G) c.4147+16A>G (n.4147+16A>G) c.2356+16A>G (n.2356+16A>G) c.4789+25A>G (n.4789+25A>G) c.4672+16A>G (n.4672+16A>G) c.4615+16A>G (n.4615+16A>G) c.4342+16A>G (n.4342+16A>G) c.4216+16A>G (n.4216+16A>G) c.4729+16A>G (n.4729+16A>G) c.4663+16A>G (n.4663+16A>G) c.4606+25A>G (n.4606+25A>G) c.4603+16A>G (n.4603+16A>G) c.4489+16A>G (n.4489+16A>G) c.4468+16A>G (n.4468+16A>G) c.4333+25A>G (n.4333+25A>G) c.4324+25A>G (n.4324+25A>G) c.4273+16A>G (n.4273+16A>G) c.4264+25A>G (n.4264+25A>G) c.4207+16A>G (n.4207+16A>G) c.4204+16A>G (n.4204+16A>G) c.4195+16A>G (n.4195+16A>G) c.4186+25A>G (n.4186+25A>G) c.4138+16A>G (n.4138+16A>G) c.4012+25A>G (n.4012+25A>G) c.4321+25A>G (n.4321+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644921T>C | CA544501990 | ROBO2 | c.4330+17T>C (n.4330+17T>C) c.4312+26T>C (n.4312+26T>C) c.4207+26T>C (n.4207+26T>C) c.4408+17T>C (n.4408+17T>C) c.*1078+17T>C (n.*1078+17T>C) c.4420+17T>C (n.4420+17T>C) c.4321+17T>C (n.4321+17T>C) c.4594+17T>C (n.4594+17T>C) c.*2568+17T>C (n.*2568+17T>C) c.4261+17T>C (n.4261+17T>C) c.667+26T>C (n.667+26T>C) c.4318+17T>C (n.4318+17T>C) c.4135+17T>C (n.4135+17T>C) n.6123+17T>C c.*2579+17T>C (n.*2579+17T>C) c.620+26T>C c.4183+17T>C (n.4183+17T>C) c.593+17T>C c.3751+17T>C (n.3751+17T>C) c.4147+17T>C (n.4147+17T>C) c.2356+17T>C (n.2356+17T>C) c.4789+26T>C (n.4789+26T>C) c.4672+17T>C (n.4672+17T>C) c.4615+17T>C (n.4615+17T>C) c.4342+17T>C (n.4342+17T>C) c.4216+17T>C (n.4216+17T>C) c.4729+17T>C (n.4729+17T>C) c.4663+17T>C (n.4663+17T>C) c.4606+26T>C (n.4606+26T>C) c.4603+17T>C (n.4603+17T>C) c.4489+17T>C (n.4489+17T>C) c.4468+17T>C (n.4468+17T>C) c.4333+26T>C (n.4333+26T>C) c.4324+26T>C (n.4324+26T>C) c.4273+17T>C (n.4273+17T>C) c.4264+26T>C (n.4264+26T>C) c.4207+17T>C (n.4207+17T>C) c.4204+17T>C (n.4204+17T>C) c.4195+17T>C (n.4195+17T>C) c.4186+26T>C (n.4186+26T>C) c.4138+17T>C (n.4138+17T>C) c.4012+26T>C (n.4012+26T>C) c.4321+26T>C (n.4321+26T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77644921T= | CA1376778009 | ROBO2 | c.4330+17T= (n.4330+17T=) c.4312+26T= (n.4312+26T=) c.4207+26T= (n.4207+26T=) c.4408+17T= (n.4408+17T=) c.*1078+17T= (n.*1078+17T=) c.4420+17T= (n.4420+17T=) c.4321+17T= (n.4321+17T=) c.4594+17T= (n.4594+17T=) c.*2568+17T= (n.*2568+17T=) c.4261+17T= (n.4261+17T=) c.667+26T= (n.667+26T=) c.4318+17T= (n.4318+17T=) c.4135+17T= (n.4135+17T=) n.6123+17T= c.*2579+17T= (n.*2579+17T=) c.620+26T= c.4183+17T= (n.4183+17T=) c.593+17T= c.3751+17T= (n.3751+17T=) c.4147+17T= (n.4147+17T=) c.2356+17T= (n.2356+17T=) c.4789+26T= (n.4789+26T=) c.4672+17T= (n.4672+17T=) c.4615+17T= (n.4615+17T=) c.4342+17T= (n.4342+17T=) c.4216+17T= (n.4216+17T=) c.4729+17T= (n.4729+17T=) c.4663+17T= (n.4663+17T=) c.4606+26T= (n.4606+26T=) c.4603+17T= (n.4603+17T=) c.4489+17T= (n.4489+17T=) c.4468+17T= (n.4468+17T=) c.4333+26T= (n.4333+26T=) c.4324+26T= (n.4324+26T=) c.4273+17T= (n.4273+17T=) c.4264+26T= (n.4264+26T=) c.4207+17T= (n.4207+17T=) c.4204+17T= (n.4204+17T=) c.4195+17T= (n.4195+17T=) c.4186+26T= (n.4186+26T=) c.4138+17T= (n.4138+17T=) c.4012+26T= (n.4012+26T=) c.4321+26T= (n.4321+26T=) | |
3 | g.77644922T>C | CA1376778011 | ROBO2 | c.4330+18T>C (n.4330+18T>C) c.4312+27T>C (n.4312+27T>C) c.4207+27T>C (n.4207+27T>C) c.4408+18T>C (n.4408+18T>C) c.*1078+18T>C (n.*1078+18T>C) c.4420+18T>C (n.4420+18T>C) c.4321+18T>C (n.4321+18T>C) c.4594+18T>C (n.4594+18T>C) c.*2568+18T>C (n.*2568+18T>C) c.4261+18T>C (n.4261+18T>C) c.667+27T>C (n.667+27T>C) c.4318+18T>C (n.4318+18T>C) c.4135+18T>C (n.4135+18T>C) n.6123+18T>C c.*2579+18T>C (n.*2579+18T>C) c.620+27T>C c.4183+18T>C (n.4183+18T>C) c.593+18T>C c.3751+18T>C (n.3751+18T>C) c.4147+18T>C (n.4147+18T>C) c.2356+18T>C (n.2356+18T>C) c.4789+27T>C (n.4789+27T>C) c.4672+18T>C (n.4672+18T>C) c.4615+18T>C (n.4615+18T>C) c.4342+18T>C (n.4342+18T>C) c.4216+18T>C (n.4216+18T>C) c.4729+18T>C (n.4729+18T>C) c.4663+18T>C (n.4663+18T>C) c.4606+27T>C (n.4606+27T>C) c.4603+18T>C (n.4603+18T>C) c.4489+18T>C (n.4489+18T>C) c.4468+18T>C (n.4468+18T>C) c.4333+27T>C (n.4333+27T>C) c.4324+27T>C (n.4324+27T>C) c.4273+18T>C (n.4273+18T>C) c.4264+27T>C (n.4264+27T>C) c.4207+18T>C (n.4207+18T>C) c.4204+18T>C (n.4204+18T>C) c.4195+18T>C (n.4195+18T>C) c.4186+27T>C (n.4186+27T>C) c.4138+18T>C (n.4138+18T>C) c.4012+27T>C (n.4012+27T>C) c.4321+27T>C (n.4321+27T>C) | dbSNP |
3 | g.77644922T= | CA1376778010 | ROBO2 | c.4330+18T= (n.4330+18T=) c.4312+27T= (n.4312+27T=) c.4207+27T= (n.4207+27T=) c.4408+18T= (n.4408+18T=) c.*1078+18T= (n.*1078+18T=) c.4420+18T= (n.4420+18T=) c.4321+18T= (n.4321+18T=) c.4594+18T= (n.4594+18T=) c.*2568+18T= (n.*2568+18T=) c.4261+18T= (n.4261+18T=) c.667+27T= (n.667+27T=) c.4318+18T= (n.4318+18T=) c.4135+18T= (n.4135+18T=) n.6123+18T= c.*2579+18T= (n.*2579+18T=) c.620+27T= c.4183+18T= (n.4183+18T=) c.593+18T= c.3751+18T= (n.3751+18T=) c.4147+18T= (n.4147+18T=) c.2356+18T= (n.2356+18T=) c.4789+27T= (n.4789+27T=) c.4672+18T= (n.4672+18T=) c.4615+18T= (n.4615+18T=) c.4342+18T= (n.4342+18T=) c.4216+18T= (n.4216+18T=) c.4729+18T= (n.4729+18T=) c.4663+18T= (n.4663+18T=) c.4606+27T= (n.4606+27T=) c.4603+18T= (n.4603+18T=) c.4489+18T= (n.4489+18T=) c.4468+18T= (n.4468+18T=) c.4333+27T= (n.4333+27T=) c.4324+27T= (n.4324+27T=) c.4273+18T= (n.4273+18T=) c.4264+27T= (n.4264+27T=) c.4207+18T= (n.4207+18T=) c.4204+18T= (n.4204+18T=) c.4195+18T= (n.4195+18T=) c.4186+27T= (n.4186+27T=) c.4138+18T= (n.4138+18T=) c.4012+27T= (n.4012+27T=) c.4321+27T= (n.4321+27T=) | |
3 | g.77644924_77644927dup | CA2666589409 | ROBO2 | c.4330+20_4330+23dup (n.4330+20_4330+23dup) c.4312+29_4312+32dup (n.4312+29_4312+32dup) c.4207+29_4207+32dup (n.4207+29_4207+32dup) c.4408+20_4408+23dup (n.4408+20_4408+23dup) c.*1078+20_*1078+23dup (n.*1078+20_*1078+23dup) c.4420+20_4420+23dup (n.4420+20_4420+23dup) c.4321+20_4321+23dup (n.4321+20_4321+23dup) c.4594+20_4594+23dup (n.4594+20_4594+23dup) c.*2568+20_*2568+23dup (n.*2568+20_*2568+23dup) c.4261+20_4261+23dup (n.4261+20_4261+23dup) c.667+29_667+32dup (n.667+29_667+32dup) c.4318+20_4318+23dup (n.4318+20_4318+23dup) c.4135+20_4135+23dup (n.4135+20_4135+23dup) n.6123+20_6123+23dup c.*2579+20_*2579+23dup (n.*2579+20_*2579+23dup) c.620+29_620+32dup c.4183+20_4183+23dup (n.4183+20_4183+23dup) c.593+20_593+23dup c.3751+20_3751+23dup (n.3751+20_3751+23dup) c.4147+20_4147+23dup (n.4147+20_4147+23dup) c.2356+20_2356+23dup (n.2356+20_2356+23dup) c.4789+29_4789+32dup (n.4789+29_4789+32dup) c.4672+20_4672+23dup (n.4672+20_4672+23dup) c.4615+20_4615+23dup (n.4615+20_4615+23dup) c.4342+20_4342+23dup (n.4342+20_4342+23dup) c.4216+20_4216+23dup (n.4216+20_4216+23dup) c.4729+20_4729+23dup (n.4729+20_4729+23dup) c.4663+20_4663+23dup (n.4663+20_4663+23dup) c.4606+29_4606+32dup (n.4606+29_4606+32dup) c.4603+20_4603+23dup (n.4603+20_4603+23dup) c.4489+20_4489+23dup (n.4489+20_4489+23dup) c.4468+20_4468+23dup (n.4468+20_4468+23dup) c.4333+29_4333+32dup (n.4333+29_4333+32dup) c.4324+29_4324+32dup (n.4324+29_4324+32dup) c.4273+20_4273+23dup (n.4273+20_4273+23dup) c.4264+29_4264+32dup (n.4264+29_4264+32dup) c.4207+20_4207+23dup (n.4207+20_4207+23dup) c.4204+20_4204+23dup (n.4204+20_4204+23dup) c.4195+20_4195+23dup (n.4195+20_4195+23dup) c.4186+29_4186+32dup (n.4186+29_4186+32dup) c.4138+20_4138+23dup (n.4138+20_4138+23dup) c.4012+29_4012+32dup (n.4012+29_4012+32dup) c.4321+29_4321+32dup (n.4321+29_4321+32dup) | gnomAD v4 |
3 | g.77644926A>G | CA2740430012 | ROBO2 | c.4330+22A>G (n.4330+22A>G) c.4312+31A>G (n.4312+31A>G) c.4207+31A>G (n.4207+31A>G) c.4408+22A>G (n.4408+22A>G) c.*1078+22A>G (n.*1078+22A>G) c.4420+22A>G (n.4420+22A>G) c.4321+22A>G (n.4321+22A>G) c.4594+22A>G (n.4594+22A>G) c.*2568+22A>G (n.*2568+22A>G) c.4261+22A>G (n.4261+22A>G) c.667+31A>G (n.667+31A>G) c.4318+22A>G (n.4318+22A>G) c.4135+22A>G (n.4135+22A>G) n.6123+22A>G c.*2579+22A>G (n.*2579+22A>G) c.620+31A>G c.4183+22A>G (n.4183+22A>G) c.593+22A>G c.3751+22A>G (n.3751+22A>G) c.4147+22A>G (n.4147+22A>G) c.2356+22A>G (n.2356+22A>G) c.4789+31A>G (n.4789+31A>G) c.4672+22A>G (n.4672+22A>G) c.4615+22A>G (n.4615+22A>G) c.4342+22A>G (n.4342+22A>G) c.4216+22A>G (n.4216+22A>G) c.4729+22A>G (n.4729+22A>G) c.4663+22A>G (n.4663+22A>G) c.4606+31A>G (n.4606+31A>G) c.4603+22A>G (n.4603+22A>G) c.4489+22A>G (n.4489+22A>G) c.4468+22A>G (n.4468+22A>G) c.4333+31A>G (n.4333+31A>G) c.4324+31A>G (n.4324+31A>G) c.4273+22A>G (n.4273+22A>G) c.4264+31A>G (n.4264+31A>G) c.4207+22A>G (n.4207+22A>G) c.4204+22A>G (n.4204+22A>G) c.4195+22A>G (n.4195+22A>G) c.4186+31A>G (n.4186+31A>G) c.4138+22A>G (n.4138+22A>G) c.4012+31A>G (n.4012+31A>G) c.4321+31A>G (n.4321+31A>G) |