Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.77644826C>ACA353533656ROBO2c.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)
3g.77644826C=CA1376777962ROBO2c.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=)
3g.77644826C>GCA353533658ROBO2c.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)
3g.77644826C>TCA353533660ROBO2c.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)
3g.77644827A>CCA353533661ROBO2c.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)
3g.77644827A>GCA353533662ROBO2c.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)
3g.77644827A>TCA353533663ROBO2c.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)
3g.77644827dupCA910605354ROBO2c.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
3g.77644828C>ACA353533664ROBO2c.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)
3g.77644828C=CA1376777963ROBO2c.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=)
3g.77644828C>GCA2497833ROBO2c.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
3g.77644828C>TCA434435320ROBO2c.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
3g.77644829C>ACA353533665ROBO2c.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)
3g.77644829C>GCA353533666ROBO2c.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)
3g.77644829C>TCA353533667ROBO2c.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)
3g.77644830A=CA1376777964ROBO2c.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=)
3g.77644830A>CCA353533668ROBO2c.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
3g.77644830A>GCA353533670ROBO2c.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)
3g.77644830A>TCA353533669ROBO2c.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)
3g.77644831G>ACA2497834ROBO2c.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
3g.77644831G>CCA353533673ROBO2c.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
3g.77644831G=CA1376777965ROBO2c.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=)
3g.77644831G>TCA353533671ROBO2c.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)
3g.77644832C>ACA353533675ROBO2c.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
3g.77644832C=CA1376777966ROBO2c.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=)
3g.77644832C>GCA353533677ROBO2c.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)
3g.77644832C>TCA2497835ROBO2c.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
3g.77644833G>ACA2497836ROBO2c.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
3g.77644833G>CCA353533681ROBO2c.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)
3g.77644833G=CA1376777967ROBO2c.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=)
3g.77644833G>TCA353533682ROBO2c.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
3g.77644834C>ACA434435324ROBO2c.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=)
3g.77644834C>GCA434435325ROBO2c.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=)
3g.77644834C>TCA434435323ROBO2c.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=)
3g.77644835A>CCA353533688ROBO2c.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)
3g.77644835A>GCA353533685ROBO2c.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)
3g.77644835A>TCA353533687ROBO2c.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)
3g.77644836A=CA1376777968ROBO2c.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=)
3g.77644836A>CCA353533690ROBO2c.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)
3g.77644836A>GCA2497837ROBO2c.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
3g.77644836A>TCA353533692ROBO2c.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)
3g.77644837T>ACA353533694ROBO2c.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)
3g.77644837T>CCA434435328ROBO2c.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=)
3g.77644837T>GCA353533696ROBO2c.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)
3g.77644838G>ACA353533702ROBO2c.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
3g.77644838G>CCA353533698ROBO2c.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)
3g.77644838G=CA1376777969ROBO2c.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=)
3g.77644838G>TCA353533700ROBO2c.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)
3g.77644839C>ACA353533704ROBO2c.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
3g.77644839C=CA1376777970ROBO2c.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=)
3g.77644839C>GCA353533705ROBO2c.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)
3g.77644839C>TCA2497838ROBO2c.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
3g.77644840C>ACA434435332ROBO2c.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=)
3g.77644840C>GCA434435330ROBO2c.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=)
3g.77644840C>TCA434435331ROBO2c.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
3g.77644841A=CA1376777971ROBO2c.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=)
3g.77644841A>CCA353533708ROBO2c.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)
3g.77644841A>GCA353533710ROBO2c.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
3g.77644841A>TCA353533712ROBO2c.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)
3g.77644842G>ACA353533714ROBO2c.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
3g.77644842G>CCA353533716ROBO2c.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)
3g.77644842G>TCA353533718ROBO2c.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)
3g.77644843C>ACA353533720ROBO2c.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
3g.77644843C=CA1376777972ROBO2c.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=)
3g.77644843C>GCA353533722ROBO2c.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)
3g.77644843C>TCA2497839ROBO2c.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
3g.77644844G>ACA2497840ROBO2c.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
3g.77644844G>CCA353533728ROBO2c.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)
3g.77644844G=CA1376777973ROBO2c.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=)
3g.77644844G>TCA353533726ROBO2c.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)
3g.77644845A>CCA353533730ROBO2c.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)
3g.77644845A>GCA353533732ROBO2c.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)
3g.77644845A>TCA353533734ROBO2c.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)
3g.77644846C>ACA353533735ROBO2c.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)
3g.77644846C>GCA353533737ROBO2c.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)
3g.77644846C>TCA434435333ROBO2c.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=)
3g.77644847C>ACA2497841ROBO2c.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
3g.77644847C=CA1376777974ROBO2c.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=)
3g.77644847C>GCA353533744ROBO2c.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)
3g.77644847C>TCA2497842ROBO2c.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
3g.77644848T>ACA353533747ROBO2c.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
3g.77644848T>CCA353533749ROBO2c.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)
3g.77644848T>GCA353533751ROBO2c.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)
3g.77644849T>ACA434435337ROBO2c.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=)
3g.77644849T>CCA434435338ROBO2c.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=)
3g.77644849T>GCA434435339ROBO2c.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
3g.77644850C>ACA353533759ROBO2c.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)
3g.77644850C=CA1376777975ROBO2c.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=)
3g.77644850C>GCA353533758ROBO2c.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
3g.77644850C>TCA353533756ROBO2c.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)
3g.77644851T>ACA353533760ROBO2c.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)
3g.77644851T>CCA353533761ROBO2c.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)
3g.77644851T>GCA353533762ROBO2c.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)
3g.77644852T>ACA434435344ROBO2c.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=)
3g.77644852T>CCA434435345ROBO2c.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
3g.77644852T>GCA434435346ROBO2c.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=)
3g.77644853G>ACA2497843ROBO2c.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
3g.77644853G>CCA353533764ROBO2c.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)
3g.77644853G=CA1376777976ROBO2c.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=)
3g.77644853G>TCA353533765ROBO2c.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)
3g.77644854A>CCA353533767ROBO2c.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)
3g.77644854A>GCA353533769ROBO2c.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
3g.77644854A>TCA353533770ROBO2c.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)
3g.77644855C>ACA353533773ROBO2c.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)
3g.77644855C=CA1376777977ROBO2c.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=)
3g.77644855C>GCA353533775ROBO2c.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)
3g.77644855C>TCA434435347ROBO2c.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
3g.77644856A=CA1376777978ROBO2c.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=)
3g.77644856A>CCA353533781ROBO2c.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)
3g.77644856A>GCA353533779ROBO2c.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
3g.77644856A>TCA353533778ROBO2c.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)
3g.77644857T>ACA353533784ROBO2c.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
3g.77644857T>CCA353533787ROBO2c.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
3g.77644857T>GCA353533785ROBO2c.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)
3g.77644858A>CCA434435353ROBO2c.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=)
3g.77644858A>GCA353533790ROBO2c.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
3g.77644858A>TCA434435355ROBO2c.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=)
3g.77644859G>ACA2497844ROBO2c.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
3g.77644859G>CCA353533793ROBO2c.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)
3g.77644859G=CA1376777979ROBO2c.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=)
3g.77644859G>TCA353533794ROBO2c.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)
3g.77644860G>ACA353533796ROBO2c.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)
3g.77644860G>CCA353533798ROBO2c.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)
3g.77644860G>TCA353533799ROBO2c.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)
3g.77644861A>CCA434435358ROBO2c.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=)
3g.77644861A>GCA434435357ROBO2c.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=)
3g.77644861A>TCA434435356ROBO2c.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=)
3g.77644862T>ACA353533800ROBO2c.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)
3g.77644862T>CCA353533802ROBO2c.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)
3g.77644862T>GCA353533804ROBO2c.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
3g.77644863A>CCA353533810ROBO2c.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)
3g.77644863A>GCA353533808ROBO2c.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)
3g.77644863A>TCA353533806ROBO2c.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)
3g.77644864T>ACA353533812ROBO2c.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)
3g.77644864T>CCA2497845ROBO2c.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
3g.77644864T>GCA353533815ROBO2c.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)
3g.77644864T=CA1376777980ROBO2c.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=)
3g.77644865A=CA1376777981ROBO2c.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=)
3g.77644865A>CCA353533816ROBO2c.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)
3g.77644865A>GCA353533817ROBO2c.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
3g.77644865A>TCA353533818ROBO2c.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)
3g.77644866T>ACA353533820ROBO2c.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)
3g.77644866T>CCA353533822ROBO2c.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)
3g.77644866T>GCA353533824ROBO2c.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)
3g.77644867G>ACA353533826ROBO2c.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
3g.77644867G>CCA353533828ROBO2c.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)
3g.77644867G=CA1376777982ROBO2c.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=)
3g.77644867G>TCA353533830ROBO2c.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)
3g.77644868G>ACA353533834ROBO2c.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)
3g.77644868G>CCA353533836ROBO2c.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)
3g.77644868G>TCA353533832ROBO2c.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)
3g.77644869G>ACA353533838ROBO2c.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)
3g.77644869G>CCA353533840ROBO2c.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)
3g.77644869G>TCA353533842ROBO2c.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)
3g.77644870C>ACA2497846ROBO2c.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
3g.77644870C=CA1376777983ROBO2c.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=)
3g.77644870C>GCA434435366ROBO2c.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=)
3g.77644870C>TCA434435367ROBO2c.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=)
3g.77644871T>ACA353533845ROBO2c.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)
3g.77644871T>CCA353533846ROBO2c.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)
3g.77644871T>GCA353533848ROBO2c.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)
3g.77644872C>ACA353533851ROBO2c.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)
3g.77644872C>GCA353533852ROBO2c.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)
3g.77644872C>TCA353533854ROBO2c.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
3g.77644873C>ACA434435370ROBO2c.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=)
3g.77644873C>GCA434435371ROBO2c.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=)
3g.77644873C>TCA434435372ROBO2c.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
3g.77644874A>CCA353533856ROBO2c.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)
3g.77644874A>GCA353533858ROBO2c.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)
3g.77644874A>TCA353533859ROBO2c.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)
3g.77644875A=CA1376777984ROBO2c.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=)
3g.77644875A>CCA353533865ROBO2c.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)
3g.77644875A>GCA353533864ROBO2c.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
3g.77644875A>TCA353533862ROBO2c.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)
3g.77644876C>ACA353533867ROBO2c.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)
3g.77644876C>GCA353533869ROBO2c.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)
3g.77644876C>TCA434435377ROBO2c.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
3g.77644877A>CCA353533871ROBO2c.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)
3g.77644877A>GCA353533873ROBO2c.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
3g.77644877A>TCA353533875ROBO2c.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)
3g.77644878G>ACA353533876ROBO2c.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
3g.77644878G>CCA353533878ROBO2c.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)
3g.77644878G=CA1376777985ROBO2c.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=)
3g.77644878G>TCA353533880ROBO2c.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)
3g.77644879T>ACA353533882ROBO2c.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)
3g.77644879T>CCA434435380ROBO2c.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=)
3g.77644879T>GCA353533884ROBO2c.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)
3g.77644879_77644880delCA2756900037ROBO2c.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)
3g.77644880C>ACA353533887ROBO2c.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
3g.77644880C=CA1376777986ROBO2c.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=)
3g.77644880C>GCA77532987ROBO2c.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
3g.77644880C>TCA353533890ROBO2c.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)
3g.77644881A=CA1376777987ROBO2c.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=)
3g.77644881A>CCA353533894ROBO2c.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
3g.77644881A>GCA353533896ROBO2c.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
3g.77644881A>TCA353533892ROBO2c.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)
3g.77644882dupCA544501986ROBO2c.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
3g.77644882A=CA1376777988ROBO2c.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=)
3g.77644882A>CCA353533899ROBO2c.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)
3g.77644882A>GCA2497847ROBO2c.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
3g.77644882A>TCA353533901ROBO2c.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)
3g.77644883G>ACA353533904ROBO2c.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)
3g.77644883G>CCA353533907ROBO2c.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)
3g.77644883G>TCA353533906ROBO2c.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)
3g.77644884G>ACA353533910ROBO2c.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
3g.77644884G>CCA353533913ROBO2c.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)
3g.77644884G>TCA353533912ROBO2c.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)
3g.77644885A=CA1376777989ROBO2c.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=)
3g.77644885A>CCA434435386ROBO2c.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=)
3g.77644885A>GCA434435389ROBO2c.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=)
3g.77644885A>TCA434435387ROBO2c.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
3g.77644885_77644886insGCCCA544501987ROBO2c.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
3g.77644886C>ACA353533916ROBO2c.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)
3g.77644886C=CA1376777990ROBO2c.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=)
3g.77644886C>GCA2497849ROBO2c.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
3g.77644886C>TCA2497848ROBO2c.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
3g.77644887A=CA1376777991ROBO2c.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=)
3g.77644887A>CCA353533920ROBO2c.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)
3g.77644887A>GCA353533922ROBO2c.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
3g.77644887A>TCA353533923ROBO2c.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)
3g.77644887_77644888insTATATCA1376777992ROBO2c.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
3g.77644888G>ACA2497850ROBO2c.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
3g.77644888G>CCA353533926ROBO2c.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)
3g.77644888G=CA1376777993ROBO2c.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=)
3g.77644888G>TCA353533927ROBO2c.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)
3g.77644889T>ACA77532997ROBO2c.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
3g.77644889T>CCA353533929ROBO2c.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)
3g.77644889T>GCA353533930ROBO2c.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)
3g.77644889T=CA1376777994ROBO2c.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=)
3g.77644891delCA2666589403ROBO2c.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
3g.77644890T>ACA353533931ROBO2c.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)
3g.77644890T>CCA353533933ROBO2c.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)
3g.77644890T>GCA353533935ROBO2c.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)
3g.77644891T>ACA353533937ROBO2c.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)
3g.77644891T>CCA434435393ROBO2c.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=)
3g.77644891T>GCA353533939ROBO2c.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)
3g.77644892A>CCA353533940ROBO2c.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)
3g.77644892A>GCA353533941ROBO2c.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)
3g.77644892A>TCA353533942ROBO2c.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)
3g.77644893C>ACA353533945ROBO2c.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
3g.77644893C=CA1376777995ROBO2c.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=)
3g.77644893C>GCA353533946ROBO2c.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)
3g.77644893C>TCA353533948ROBO2c.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
3g.77644894A>CCA434435398ROBO2c.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=)
3g.77644894A>GCA434435396ROBO2c.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=)
3g.77644894A>TCA434435397ROBO2c.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=)
3g.77644895G>ACA353533951ROBO2c.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)
3g.77644895G>CCA353533952ROBO2c.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)
3g.77644895G>TCA353533954ROBO2c.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)
3g.77644896G>ACA353533957ROBO2c.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)
3g.77644896G>CCA353533958ROBO2c.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)
3g.77644896G>TCA353533960ROBO2c.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)
3g.77644897T>ACA434435401ROBO2c.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)
3g.77644897T>CCA434435402ROBO2c.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)
3g.77644897T>GCA434435404ROBO2c.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)
3g.77644898G>ACA353533962ROBO2c.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)
3g.77644898G>CCA353533965ROBO2c.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)
3g.77644898G>TCA353533963ROBO2c.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)
3g.77644899A>CCA353533967ROBO2c.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)
3g.77644899A>GCA353533968ROBO2c.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)
3g.77644899A>TCA353533970ROBO2c.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)
3g.77644900A>CCA353533971ROBO2c.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)
3g.77644900A>GCA434435406ROBO2c.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
3g.77644900A>TCA353533972ROBO2c.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)
3g.77644901T>ACA353533975ROBO2c.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)
3g.77644901T>CCA434435407ROBO2c.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)
3g.77644901T>GCA353533976ROBO2c.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)
3g.77644902T>ACA353533978ROBO2c.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)
3g.77644902T>CCA353533979ROBO2c.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)
3g.77644902T>GCA353533981ROBO2c.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)
3g.77644903A>CCA353533983ROBO2c.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)
3g.77644903A>GCA434435409ROBO2c.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)
3g.77644903A>TCA353533984ROBO2c.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)
3g.77644904T>ACA353533990ROBO2c.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
3g.77644904T>CCA353533987ROBO2c.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)
3g.77644904T>GCA353533988ROBO2c.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)
3g.77644904T=CA1376777996ROBO2c.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=)
3g.77644905G>ACA2577824460ROBO2c.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
3g.77644906T>ACA2666589404ROBO2c.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
3g.77644906T>CCA2666589405ROBO2c.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
3g.77644909G>CCA2497851ROBO2c.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
3g.77644909G=CA1376777997ROBO2c.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=)
3g.77644910T>GCA544501988ROBO2c.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
3g.77644910T=CA1376777998ROBO2c.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=)
3g.77644911G>ACA2702907257ROBO2c.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
3g.77644911G=CA1376777999ROBO2c.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=)
3g.77644911G>TCA1376778000ROBO2c.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
3g.77644915A=CA1376778001ROBO2c.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=)
3g.77644915A>CCA2497852ROBO2c.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
3g.77644915A>GCA2577824461ROBO2c.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)
3g.77644915A>TCA1376778002ROBO2c.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
3g.77644916G>CCA2497853ROBO2c.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
3g.77644916G=CA1376778003ROBO2c.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=)
3g.77644916G>TCA2666589406ROBO2c.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
3g.77644917G=CA1376778004ROBO2c.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=)
3g.77644917G>TCA2497854ROBO2c.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
3g.77644918T>CCA2666589407ROBO2c.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
3g.77644918T>GCA2497855ROBO2c.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
3g.77644918T=CA1376778006ROBO2c.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=)
3g.77644919_77644923dupCA1376778005ROBO2c.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
3g.77644919C>ACA2666589408ROBO2c.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
3g.77644919C=CA1376778007ROBO2c.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=)
3g.77644919C>TCA544501989ROBO2c.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
3g.77644920A=CA1376778008ROBO2c.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=)
3g.77644920A>GCA2497856ROBO2c.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
3g.77644921T>CCA544501990ROBO2c.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
3g.77644921T=CA1376778009ROBO2c.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=)
3g.77644922T>CCA1376778011ROBO2c.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
3g.77644922T=CA1376778010ROBO2c.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=)
3g.77644924_77644927dupCA2666589409ROBO2c.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
3g.77644926A>GCA2740430012ROBO2c.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)

Number of alleles fetched