WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.77644825C>A | CA434435318 | ROBO2 | c.4251C>A (p.Gly1417=) c.4242C>A (p.Gly1414=) c.4137C>A (p.Gly1379=) c.4329C>A (p.Gly1443=) c.*999C>A (n.*999C>A) c.4341C>A (p.Gly1447=) c.4515C>A (p.Gly1505=) c.*2489C>A (n.*2489C>A) c.4182C>A (p.Gly1394=) c.597C>A (p.Gly199=) c.4239C>A (p.Gly1413=) c.4056C>A (p.Gly1352=) n.6044C>A c.*2500C>A (n.*2500C>A) c.550C>A c.4104C>A (p.Gly1368=) c.514C>A c.3672C>A (p.Gly1224=) c.4068C>A (p.Gly1356=) c.2277C>A (p.Gly759=) c.4719C>A (p.Gly1573=) c.4593C>A (p.Gly1531=) c.4536C>A (p.Gly1512=) c.4263C>A (p.Gly1421=) c.4650C>A (p.Gly1550=) c.4584C>A (p.Gly1528=) c.4524C>A (p.Gly1508=) c.4410C>A (p.Gly1470=) c.4389C>A (p.Gly1463=) c.4254C>A (p.Gly1418=) c.4194C>A (p.Gly1398=) c.4128C>A (p.Gly1376=) c.4125C>A (p.Gly1375=) c.4116C>A (p.Gly1372=) c.4059C>A (p.Gly1353=) c.3942C>A (p.Gly1314=) | COSMIC |
| 3 | g.77644825C= | CA1376777961 | ROBO2 | c.4251C= (p.Gly1417=) c.4242C= (p.Gly1414=) c.4137C= (p.Gly1379=) c.4329C= (p.Gly1443=) c.*999C= (n.*999C=) c.4341C= (p.Gly1447=) c.4515C= (p.Gly1505=) c.*2489C= (n.*2489C=) c.4182C= (p.Gly1394=) c.597C= (p.Gly199=) c.4239C= (p.Gly1413=) c.4056C= (p.Gly1352=) n.6044C= c.*2500C= (n.*2500C=) c.550C= c.4104C= (p.Gly1368=) c.514C= c.3672C= (p.Gly1224=) c.4068C= (p.Gly1356=) c.2277C= (p.Gly759=) c.4719C= (p.Gly1573=) c.4593C= (p.Gly1531=) c.4536C= (p.Gly1512=) c.4263C= (p.Gly1421=) c.4650C= (p.Gly1550=) c.4584C= (p.Gly1528=) c.4524C= (p.Gly1508=) c.4410C= (p.Gly1470=) c.4389C= (p.Gly1463=) c.4254C= (p.Gly1418=) c.4194C= (p.Gly1398=) c.4128C= (p.Gly1376=) c.4125C= (p.Gly1375=) c.4116C= (p.Gly1372=) c.4059C= (p.Gly1353=) c.3942C= (p.Gly1314=) | |
| 3 | g.77644825C>G | CA434435319 | ROBO2 | c.4251C>G (p.Gly1417=) c.4242C>G (p.Gly1414=) c.4137C>G (p.Gly1379=) c.4329C>G (p.Gly1443=) c.*999C>G (n.*999C>G) c.4341C>G (p.Gly1447=) c.4515C>G (p.Gly1505=) c.*2489C>G (n.*2489C>G) c.4182C>G (p.Gly1394=) c.597C>G (p.Gly199=) c.4239C>G (p.Gly1413=) c.4056C>G (p.Gly1352=) n.6044C>G c.*2500C>G (n.*2500C>G) c.550C>G c.4104C>G (p.Gly1368=) c.514C>G c.3672C>G (p.Gly1224=) c.4068C>G (p.Gly1356=) c.2277C>G (p.Gly759=) c.4719C>G (p.Gly1573=) c.4593C>G (p.Gly1531=) c.4536C>G (p.Gly1512=) c.4263C>G (p.Gly1421=) c.4650C>G (p.Gly1550=) c.4584C>G (p.Gly1528=) c.4524C>G (p.Gly1508=) c.4410C>G (p.Gly1470=) c.4389C>G (p.Gly1463=) c.4254C>G (p.Gly1418=) c.4194C>G (p.Gly1398=) c.4128C>G (p.Gly1376=) c.4125C>G (p.Gly1375=) c.4116C>G (p.Gly1372=) c.4059C>G (p.Gly1353=) c.3942C>G (p.Gly1314=) | |
| 3 | g.77644825C>T | CA2497832 | ROBO2 | c.4251C>T (p.Gly1417=) c.4242C>T (p.Gly1414=) c.4137C>T (p.Gly1379=) c.4329C>T (p.Gly1443=) c.*999C>T (n.*999C>T) c.4341C>T (p.Gly1447=) c.4515C>T (p.Gly1505=) c.*2489C>T (n.*2489C>T) c.4182C>T (p.Gly1394=) c.597C>T (p.Gly199=) c.4239C>T (p.Gly1413=) c.4056C>T (p.Gly1352=) n.6044C>T c.*2500C>T (n.*2500C>T) c.550C>T c.4104C>T (p.Gly1368=) c.514C>T c.3672C>T (p.Gly1224=) c.4068C>T (p.Gly1356=) c.2277C>T (p.Gly759=) c.4719C>T (p.Gly1573=) c.4593C>T (p.Gly1531=) c.4536C>T (p.Gly1512=) c.4263C>T (p.Gly1421=) c.4650C>T (p.Gly1550=) c.4584C>T (p.Gly1528=) c.4524C>T (p.Gly1508=) c.4410C>T (p.Gly1470=) c.4389C>T (p.Gly1463=) c.4254C>T (p.Gly1418=) c.4194C>T (p.Gly1398=) c.4128C>T (p.Gly1376=) c.4125C>T (p.Gly1375=) c.4116C>T (p.Gly1372=) c.4059C>T (p.Gly1353=) c.3942C>T (p.Gly1314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.77644826C>A | CA353533656 | ROBO2 | c.4252C>A (p.His1418Asn) c.4243C>A (p.His1415Asn) c.4138C>A (p.His1380Asn) c.4330C>A (p.His1444Asn) c.*1000C>A (n.*1000C>A) c.4342C>A (p.His1448Asn) c.4516C>A (p.His1506Asn) c.*2490C>A (n.*2490C>A) c.4183C>A (p.His1395Asn) c.598C>A (p.His200Asn) c.4240C>A (p.His1414Asn) c.4057C>A (p.His1353Asn) n.6045C>A c.*2501C>A (n.*2501C>A) c.551C>A c.4105C>A (p.His1369Asn) c.515C>A c.3673C>A (p.His1225Asn) c.4069C>A (p.His1357Asn) c.2278C>A (p.His760Asn) c.4720C>A (p.His1574Asn) c.4594C>A (p.His1532Asn) c.4537C>A (p.His1513Asn) c.4264C>A (p.His1422Asn) c.4651C>A (p.His1551Asn) c.4585C>A (p.His1529Asn) c.4525C>A (p.His1509Asn) c.4411C>A (p.His1471Asn) c.4390C>A (p.His1464Asn) c.4255C>A (p.His1419Asn) c.4195C>A (p.His1399Asn) c.4129C>A (p.His1377Asn) c.4126C>A (p.His1376Asn) c.4117C>A (p.His1373Asn) c.4060C>A (p.His1354Asn) c.3943C>A (p.His1315Asn) | |
| 3 | g.77644826C= | CA1376777962 | ROBO2 | c.4252C= (p.His1418=) c.4243C= (p.His1415=) c.4138C= (p.His1380=) c.4330C= (p.His1444=) c.*1000C= (n.*1000C=) c.4342C= (p.His1448=) c.4516C= (p.His1506=) c.*2490C= (n.*2490C=) c.4183C= (p.His1395=) c.598C= (p.His200=) c.4240C= (p.His1414=) c.4057C= (p.His1353=) n.6045C= c.*2501C= (n.*2501C=) c.551C= c.4105C= (p.His1369=) c.515C= c.3673C= (p.His1225=) c.4069C= (p.His1357=) c.2278C= (p.His760=) c.4720C= (p.His1574=) c.4594C= (p.His1532=) c.4537C= (p.His1513=) c.4264C= (p.His1422=) c.4651C= (p.His1551=) c.4585C= (p.His1529=) c.4525C= (p.His1509=) c.4411C= (p.His1471=) c.4390C= (p.His1464=) c.4255C= (p.His1419=) c.4195C= (p.His1399=) c.4129C= (p.His1377=) c.4126C= (p.His1376=) c.4117C= (p.His1373=) c.4060C= (p.His1354=) c.3943C= (p.His1315=) | |
| 3 | g.77644826C>G | CA353533658 | ROBO2 | c.4252C>G (p.His1418Asp) c.4243C>G (p.His1415Asp) c.4138C>G (p.His1380Asp) c.4330C>G (p.His1444Asp) c.*1000C>G (n.*1000C>G) c.4342C>G (p.His1448Asp) c.4516C>G (p.His1506Asp) c.*2490C>G (n.*2490C>G) c.4183C>G (p.His1395Asp) c.598C>G (p.His200Asp) c.4240C>G (p.His1414Asp) c.4057C>G (p.His1353Asp) n.6045C>G c.*2501C>G (n.*2501C>G) c.551C>G c.4105C>G (p.His1369Asp) c.515C>G c.3673C>G (p.His1225Asp) c.4069C>G (p.His1357Asp) c.2278C>G (p.His760Asp) c.4720C>G (p.His1574Asp) c.4594C>G (p.His1532Asp) c.4537C>G (p.His1513Asp) c.4264C>G (p.His1422Asp) c.4651C>G (p.His1551Asp) c.4585C>G (p.His1529Asp) c.4525C>G (p.His1509Asp) c.4411C>G (p.His1471Asp) c.4390C>G (p.His1464Asp) c.4255C>G (p.His1419Asp) c.4195C>G (p.His1399Asp) c.4129C>G (p.His1377Asp) c.4126C>G (p.His1376Asp) c.4117C>G (p.His1373Asp) c.4060C>G (p.His1354Asp) c.3943C>G (p.His1315Asp) | |
| 3 | g.77644826C>T | CA353533660 | ROBO2 | c.4252C>T (p.His1418Tyr) c.4243C>T (p.His1415Tyr) c.4138C>T (p.His1380Tyr) c.4330C>T (p.His1444Tyr) c.*1000C>T (n.*1000C>T) c.4342C>T (p.His1448Tyr) c.4516C>T (p.His1506Tyr) c.*2490C>T (n.*2490C>T) c.4183C>T (p.His1395Tyr) c.598C>T (p.His200Tyr) c.4240C>T (p.His1414Tyr) c.4057C>T (p.His1353Tyr) n.6045C>T c.*2501C>T (n.*2501C>T) c.551C>T c.4105C>T (p.His1369Tyr) c.515C>T c.3673C>T (p.His1225Tyr) c.4069C>T (p.His1357Tyr) c.2278C>T (p.His760Tyr) c.4720C>T (p.His1574Tyr) c.4594C>T (p.His1532Tyr) c.4537C>T (p.His1513Tyr) c.4264C>T (p.His1422Tyr) c.4651C>T (p.His1551Tyr) c.4585C>T (p.His1529Tyr) c.4525C>T (p.His1509Tyr) c.4411C>T (p.His1471Tyr) c.4390C>T (p.His1464Tyr) c.4255C>T (p.His1419Tyr) c.4195C>T (p.His1399Tyr) c.4129C>T (p.His1377Tyr) c.4126C>T (p.His1376Tyr) c.4117C>T (p.His1373Tyr) c.4060C>T (p.His1354Tyr) c.3943C>T (p.His1315Tyr) | |
| 3 | g.77644827A>C | CA353533661 | ROBO2 | c.4253A>C (p.His1418Pro) c.4244A>C (p.His1415Pro) c.4139A>C (p.His1380Pro) c.4331A>C (p.His1444Pro) c.*1001A>C (n.*1001A>C) c.4343A>C (p.His1448Pro) c.4517A>C (p.His1506Pro) c.*2491A>C (n.*2491A>C) c.4184A>C (p.His1395Pro) c.599A>C (p.His200Pro) c.4241A>C (p.His1414Pro) c.4058A>C (p.His1353Pro) n.6046A>C c.*2502A>C (n.*2502A>C) c.552A>C c.4106A>C (p.His1369Pro) c.516A>C c.3674A>C (p.His1225Pro) c.4070A>C (p.His1357Pro) c.2279A>C (p.His760Pro) c.4721A>C (p.His1574Pro) c.4595A>C (p.His1532Pro) c.4538A>C (p.His1513Pro) c.4265A>C (p.His1422Pro) c.4652A>C (p.His1551Pro) c.4586A>C (p.His1529Pro) c.4526A>C (p.His1509Pro) c.4412A>C (p.His1471Pro) c.4391A>C (p.His1464Pro) c.4256A>C (p.His1419Pro) c.4196A>C (p.His1399Pro) c.4130A>C (p.His1377Pro) c.4127A>C (p.His1376Pro) c.4118A>C (p.His1373Pro) c.4061A>C (p.His1354Pro) c.3944A>C (p.His1315Pro) | |
| 3 | g.77644827A>G | CA353533662 | ROBO2 | c.4253A>G (p.His1418Arg) c.4244A>G (p.His1415Arg) c.4139A>G (p.His1380Arg) c.4331A>G (p.His1444Arg) c.*1001A>G (n.*1001A>G) c.4343A>G (p.His1448Arg) c.4517A>G (p.His1506Arg) c.*2491A>G (n.*2491A>G) c.4184A>G (p.His1395Arg) c.599A>G (p.His200Arg) c.4241A>G (p.His1414Arg) c.4058A>G (p.His1353Arg) n.6046A>G c.*2502A>G (n.*2502A>G) c.552A>G c.4106A>G (p.His1369Arg) c.516A>G c.3674A>G (p.His1225Arg) c.4070A>G (p.His1357Arg) c.2279A>G (p.His760Arg) c.4721A>G (p.His1574Arg) c.4595A>G (p.His1532Arg) c.4538A>G (p.His1513Arg) c.4265A>G (p.His1422Arg) c.4652A>G (p.His1551Arg) c.4586A>G (p.His1529Arg) c.4526A>G (p.His1509Arg) c.4412A>G (p.His1471Arg) c.4391A>G (p.His1464Arg) c.4256A>G (p.His1419Arg) c.4196A>G (p.His1399Arg) c.4130A>G (p.His1377Arg) c.4127A>G (p.His1376Arg) c.4118A>G (p.His1373Arg) c.4061A>G (p.His1354Arg) c.3944A>G (p.His1315Arg) | |
| 3 | g.77644827A>T | CA353533663 | ROBO2 | c.4253A>T (p.His1418Leu) c.4244A>T (p.His1415Leu) c.4139A>T (p.His1380Leu) c.4331A>T (p.His1444Leu) c.*1001A>T (n.*1001A>T) c.4343A>T (p.His1448Leu) c.4517A>T (p.His1506Leu) c.*2491A>T (n.*2491A>T) c.4184A>T (p.His1395Leu) c.599A>T (p.His200Leu) c.4241A>T (p.His1414Leu) c.4058A>T (p.His1353Leu) n.6046A>T c.*2502A>T (n.*2502A>T) c.552A>T c.4106A>T (p.His1369Leu) c.516A>T c.3674A>T (p.His1225Leu) c.4070A>T (p.His1357Leu) c.2279A>T (p.His760Leu) c.4721A>T (p.His1574Leu) c.4595A>T (p.His1532Leu) c.4538A>T (p.His1513Leu) c.4265A>T (p.His1422Leu) c.4652A>T (p.His1551Leu) c.4586A>T (p.His1529Leu) c.4526A>T (p.His1509Leu) c.4412A>T (p.His1471Leu) c.4391A>T (p.His1464Leu) c.4256A>T (p.His1419Leu) c.4196A>T (p.His1399Leu) c.4130A>T (p.His1377Leu) c.4127A>T (p.His1376Leu) c.4118A>T (p.His1373Leu) c.4061A>T (p.His1354Leu) c.3944A>T (p.His1315Leu) | |
| 3 | g.77644827dup | CA910605354 | ROBO2 | c.4253dup (p.His1418GlnfsTer10) c.4244dup (p.His1415GlnfsTer10) c.4139dup (p.His1380GlnfsTer10) c.4331dup (p.His1444GlnfsTer10) c.*1001dup (n.*1001dup) c.4343dup (p.His1448GlnfsTer10) c.4517dup (p.His1506GlnfsTer10) c.*2491dup (n.*2491dup) c.4184dup (p.His1395GlnfsTer10) c.599dup (p.His200GlnfsTer10) c.4241dup (p.His1414GlnfsTer10) c.4058dup (p.His1353GlnfsTer10) n.6046dup c.*2502dup (n.*2502dup) c.552dup c.4106dup (p.His1369GlnfsTer10) c.516dup c.3674dup (p.His1225GlnfsTer10) c.4070dup (p.His1357GlnfsTer10) c.2279dup (p.His760GlnfsTer10) c.4721dup (p.His1574GlnfsTer10) c.4595dup (p.His1532GlnfsTer10) c.4538dup (p.His1513GlnfsTer10) c.4265dup (p.His1422GlnfsTer10) c.4652dup (p.His1551GlnfsTer10) c.4586dup (p.His1529GlnfsTer10) c.4526dup (p.His1509GlnfsTer10) c.4412dup (p.His1471GlnfsTer10) c.4391dup (p.His1464GlnfsTer10) c.4256dup (p.His1419GlnfsTer10) c.4196dup (p.His1399GlnfsTer10) c.4130dup (p.His1377GlnfsTer10) c.4127dup (p.His1376GlnfsTer10) c.4118dup (p.His1373GlnfsTer10) c.4061dup (p.His1354GlnfsTer10) c.3944dup (p.His1315GlnfsTer10) | dbSNP |
| 3 | g.77644828C>A | CA353533664 | ROBO2 | c.4254C>A (p.His1418Gln) c.4245C>A (p.His1415Gln) c.4140C>A (p.His1380Gln) c.4332C>A (p.His1444Gln) c.*1002C>A (n.*1002C>A) c.4344C>A (p.His1448Gln) c.4518C>A (p.His1506Gln) c.*2492C>A (n.*2492C>A) c.4185C>A (p.His1395Gln) c.600C>A (p.His200Gln) c.4242C>A (p.His1414Gln) c.4059C>A (p.His1353Gln) n.6047C>A c.*2503C>A (n.*2503C>A) c.553C>A c.4107C>A (p.His1369Gln) c.517C>A c.3675C>A (p.His1225Gln) c.4071C>A (p.His1357Gln) c.2280C>A (p.His760Gln) c.4722C>A (p.His1574Gln) c.4596C>A (p.His1532Gln) c.4539C>A (p.His1513Gln) c.4266C>A (p.His1422Gln) c.4653C>A (p.His1551Gln) c.4587C>A (p.His1529Gln) c.4527C>A (p.His1509Gln) c.4413C>A (p.His1471Gln) c.4392C>A (p.His1464Gln) c.4257C>A (p.His1419Gln) c.4197C>A (p.His1399Gln) c.4131C>A (p.His1377Gln) c.4128C>A (p.His1376Gln) c.4119C>A (p.His1373Gln) c.4062C>A (p.His1354Gln) c.3945C>A (p.His1315Gln) | |
| 3 | g.77644828C= | CA1376777963 | ROBO2 | c.4254C= (p.His1418=) c.4245C= (p.His1415=) c.4140C= (p.His1380=) c.4332C= (p.His1444=) c.*1002C= (n.*1002C=) c.4344C= (p.His1448=) c.4518C= (p.His1506=) c.*2492C= (n.*2492C=) c.4185C= (p.His1395=) c.600C= (p.His200=) c.4242C= (p.His1414=) c.4059C= (p.His1353=) n.6047C= c.*2503C= (n.*2503C=) c.553C= c.4107C= (p.His1369=) c.517C= c.3675C= (p.His1225=) c.4071C= (p.His1357=) c.2280C= (p.His760=) c.4722C= (p.His1574=) c.4596C= (p.His1532=) c.4539C= (p.His1513=) c.4266C= (p.His1422=) c.4653C= (p.His1551=) c.4587C= (p.His1529=) c.4527C= (p.His1509=) c.4413C= (p.His1471=) c.4392C= (p.His1464=) c.4257C= (p.His1419=) c.4197C= (p.His1399=) c.4131C= (p.His1377=) c.4128C= (p.His1376=) c.4119C= (p.His1373=) c.4062C= (p.His1354=) c.3945C= (p.His1315=) | |
| 3 | g.77644828C>G | CA2497833 | ROBO2 | c.4254C>G (p.His1418Gln) c.4245C>G (p.His1415Gln) c.4140C>G (p.His1380Gln) c.4332C>G (p.His1444Gln) c.*1002C>G (n.*1002C>G) c.4344C>G (p.His1448Gln) c.4518C>G (p.His1506Gln) c.*2492C>G (n.*2492C>G) c.4185C>G (p.His1395Gln) c.600C>G (p.His200Gln) c.4242C>G (p.His1414Gln) c.4059C>G (p.His1353Gln) n.6047C>G c.*2503C>G (n.*2503C>G) c.553C>G c.4107C>G (p.His1369Gln) c.517C>G c.3675C>G (p.His1225Gln) c.4071C>G (p.His1357Gln) c.2280C>G (p.His760Gln) c.4722C>G (p.His1574Gln) c.4596C>G (p.His1532Gln) c.4539C>G (p.His1513Gln) c.4266C>G (p.His1422Gln) c.4653C>G (p.His1551Gln) c.4587C>G (p.His1529Gln) c.4527C>G (p.His1509Gln) c.4413C>G (p.His1471Gln) c.4392C>G (p.His1464Gln) c.4257C>G (p.His1419Gln) c.4197C>G (p.His1399Gln) c.4131C>G (p.His1377Gln) c.4128C>G (p.His1376Gln) c.4119C>G (p.His1373Gln) c.4062C>G (p.His1354Gln) c.3945C>G (p.His1315Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.77644828C>T | CA434435320 | ROBO2 | c.4254C>T (p.His1418=) c.4245C>T (p.His1415=) c.4140C>T (p.His1380=) c.4332C>T (p.His1444=) c.*1002C>T (n.*1002C>T) c.4344C>T (p.His1448=) c.4518C>T (p.His1506=) c.*2492C>T (n.*2492C>T) c.4185C>T (p.His1395=) c.600C>T (p.His200=) c.4242C>T (p.His1414=) c.4059C>T (p.His1353=) n.6047C>T c.*2503C>T (n.*2503C>T) c.553C>T c.4107C>T (p.His1369=) c.517C>T c.3675C>T (p.His1225=) c.4071C>T (p.His1357=) c.2280C>T (p.His760=) c.4722C>T (p.His1574=) c.4596C>T (p.His1532=) c.4539C>T (p.His1513=) c.4266C>T (p.His1422=) c.4653C>T (p.His1551=) c.4587C>T (p.His1529=) c.4527C>T (p.His1509=) c.4413C>T (p.His1471=) c.4392C>T (p.His1464=) c.4257C>T (p.His1419=) c.4197C>T (p.His1399=) c.4131C>T (p.His1377=) c.4128C>T (p.His1376=) c.4119C>T (p.His1373=) c.4062C>T (p.His1354=) c.3945C>T (p.His1315=) | gnomAD v4 |
| 3 | g.77644829C>A | CA353533665 | ROBO2 | c.4255C>A (p.Gln1419Lys) c.4246C>A (p.Gln1416Lys) c.4141C>A (p.Gln1381Lys) c.4333C>A (p.Gln1445Lys) c.*1003C>A (n.*1003C>A) c.4345C>A (p.Gln1449Lys) c.4519C>A (p.Gln1507Lys) c.*2493C>A (n.*2493C>A) c.4186C>A (p.Gln1396Lys) c.601C>A (p.Gln201Lys) c.4243C>A (p.Gln1415Lys) c.4060C>A (p.Gln1354Lys) n.6048C>A c.*2504C>A (n.*2504C>A) c.554C>A c.4108C>A (p.Gln1370Lys) c.518C>A c.3676C>A (p.Gln1226Lys) c.4072C>A (p.Gln1358Lys) c.2281C>A (p.Gln761Lys) c.4723C>A (p.Gln1575Lys) c.4597C>A (p.Gln1533Lys) c.4540C>A (p.Gln1514Lys) c.4267C>A (p.Gln1423Lys) c.4654C>A (p.Gln1552Lys) c.4588C>A (p.Gln1530Lys) c.4528C>A (p.Gln1510Lys) c.4414C>A (p.Gln1472Lys) c.4393C>A (p.Gln1465Lys) c.4258C>A (p.Gln1420Lys) c.4198C>A (p.Gln1400Lys) c.4132C>A (p.Gln1378Lys) c.4129C>A (p.Gln1377Lys) c.4120C>A (p.Gln1374Lys) c.4063C>A (p.Gln1355Lys) c.3946C>A (p.Gln1316Lys) | |
| 3 | g.77644829C>G | CA353533666 | ROBO2 | c.4255C>G (p.Gln1419Glu) c.4246C>G (p.Gln1416Glu) c.4141C>G (p.Gln1381Glu) c.4333C>G (p.Gln1445Glu) c.*1003C>G (n.*1003C>G) c.4345C>G (p.Gln1449Glu) c.4519C>G (p.Gln1507Glu) c.*2493C>G (n.*2493C>G) c.4186C>G (p.Gln1396Glu) c.601C>G (p.Gln201Glu) c.4243C>G (p.Gln1415Glu) c.4060C>G (p.Gln1354Glu) n.6048C>G c.*2504C>G (n.*2504C>G) c.554C>G c.4108C>G (p.Gln1370Glu) c.518C>G c.3676C>G (p.Gln1226Glu) c.4072C>G (p.Gln1358Glu) c.2281C>G (p.Gln761Glu) c.4723C>G (p.Gln1575Glu) c.4597C>G (p.Gln1533Glu) c.4540C>G (p.Gln1514Glu) c.4267C>G (p.Gln1423Glu) c.4654C>G (p.Gln1552Glu) c.4588C>G (p.Gln1530Glu) c.4528C>G (p.Gln1510Glu) c.4414C>G (p.Gln1472Glu) c.4393C>G (p.Gln1465Glu) c.4258C>G (p.Gln1420Glu) c.4198C>G (p.Gln1400Glu) c.4132C>G (p.Gln1378Glu) c.4129C>G (p.Gln1377Glu) c.4120C>G (p.Gln1374Glu) c.4063C>G (p.Gln1355Glu) c.3946C>G (p.Gln1316Glu) | |
| 3 | g.77644829C>T | CA353533667 | ROBO2 | c.4255C>T (p.Gln1419Ter) c.4246C>T (p.Gln1416Ter) c.4141C>T (p.Gln1381Ter) c.4333C>T (p.Gln1445Ter) c.*1003C>T (n.*1003C>T) c.4345C>T (p.Gln1449Ter) c.4519C>T (p.Gln1507Ter) c.*2493C>T (n.*2493C>T) c.4186C>T (p.Gln1396Ter) c.601C>T (p.Gln201Ter) c.4243C>T (p.Gln1415Ter) c.4060C>T (p.Gln1354Ter) n.6048C>T c.*2504C>T (n.*2504C>T) c.554C>T c.4108C>T (p.Gln1370Ter) c.518C>T c.3676C>T (p.Gln1226Ter) c.4072C>T (p.Gln1358Ter) c.2281C>T (p.Gln761Ter) c.4723C>T (p.Gln1575Ter) c.4597C>T (p.Gln1533Ter) c.4540C>T (p.Gln1514Ter) c.4267C>T (p.Gln1423Ter) c.4654C>T (p.Gln1552Ter) c.4588C>T (p.Gln1530Ter) c.4528C>T (p.Gln1510Ter) c.4414C>T (p.Gln1472Ter) c.4393C>T (p.Gln1465Ter) c.4258C>T (p.Gln1420Ter) c.4198C>T (p.Gln1400Ter) c.4132C>T (p.Gln1378Ter) c.4129C>T (p.Gln1377Ter) c.4120C>T (p.Gln1374Ter) c.4063C>T (p.Gln1355Ter) c.3946C>T (p.Gln1316Ter) | |
| 3 | g.77644830A= | CA1376777964 | ROBO2 | c.4256A= (p.Gln1419=) c.4247A= (p.Gln1416=) c.4142A= (p.Gln1381=) c.4334A= (p.Gln1445=) c.*1004A= (n.*1004A=) c.4346A= (p.Gln1449=) c.4520A= (p.Gln1507=) c.*2494A= (n.*2494A=) c.4187A= (p.Gln1396=) c.602A= (p.Gln201=) c.4244A= (p.Gln1415=) c.4061A= (p.Gln1354=) n.6049A= c.*2505A= (n.*2505A=) c.555A= c.4109A= (p.Gln1370=) c.519A= c.3677A= (p.Gln1226=) c.4073A= (p.Gln1358=) c.2282A= (p.Gln761=) c.4724A= (p.Gln1575=) c.4598A= (p.Gln1533=) c.4541A= (p.Gln1514=) c.4268A= (p.Gln1423=) c.4655A= (p.Gln1552=) c.4589A= (p.Gln1530=) c.4529A= (p.Gln1510=) c.4415A= (p.Gln1472=) c.4394A= (p.Gln1465=) c.4259A= (p.Gln1420=) c.4199A= (p.Gln1400=) c.4133A= (p.Gln1378=) c.4130A= (p.Gln1377=) c.4121A= (p.Gln1374=) c.4064A= (p.Gln1355=) c.3947A= (p.Gln1316=) | |
| 3 | g.77644830A>C | CA353533668 | ROBO2 | c.4256A>C (p.Gln1419Pro) c.4247A>C (p.Gln1416Pro) c.4142A>C (p.Gln1381Pro) c.4334A>C (p.Gln1445Pro) c.*1004A>C (n.*1004A>C) c.4346A>C (p.Gln1449Pro) c.4520A>C (p.Gln1507Pro) c.*2494A>C (n.*2494A>C) c.4187A>C (p.Gln1396Pro) c.602A>C (p.Gln201Pro) c.4244A>C (p.Gln1415Pro) c.4061A>C (p.Gln1354Pro) n.6049A>C c.*2505A>C (n.*2505A>C) c.555A>C c.4109A>C (p.Gln1370Pro) c.519A>C c.3677A>C (p.Gln1226Pro) c.4073A>C (p.Gln1358Pro) c.2282A>C (p.Gln761Pro) c.4724A>C (p.Gln1575Pro) c.4598A>C (p.Gln1533Pro) c.4541A>C (p.Gln1514Pro) c.4268A>C (p.Gln1423Pro) c.4655A>C (p.Gln1552Pro) c.4589A>C (p.Gln1530Pro) c.4529A>C (p.Gln1510Pro) c.4415A>C (p.Gln1472Pro) c.4394A>C (p.Gln1465Pro) c.4259A>C (p.Gln1420Pro) c.4199A>C (p.Gln1400Pro) c.4133A>C (p.Gln1378Pro) c.4130A>C (p.Gln1377Pro) c.4121A>C (p.Gln1374Pro) c.4064A>C (p.Gln1355Pro) c.3947A>C (p.Gln1316Pro) | dbSNP gnomAD v4 |
| 3 | g.77644830A>G | CA353533670 | ROBO2 | c.4256A>G (p.Gln1419Arg) c.4247A>G (p.Gln1416Arg) c.4142A>G (p.Gln1381Arg) c.4334A>G (p.Gln1445Arg) c.*1004A>G (n.*1004A>G) c.4346A>G (p.Gln1449Arg) c.4520A>G (p.Gln1507Arg) c.*2494A>G (n.*2494A>G) c.4187A>G (p.Gln1396Arg) c.602A>G (p.Gln201Arg) c.4244A>G (p.Gln1415Arg) c.4061A>G (p.Gln1354Arg) n.6049A>G c.*2505A>G (n.*2505A>G) c.555A>G c.4109A>G (p.Gln1370Arg) c.519A>G c.3677A>G (p.Gln1226Arg) c.4073A>G (p.Gln1358Arg) c.2282A>G (p.Gln761Arg) c.4724A>G (p.Gln1575Arg) c.4598A>G (p.Gln1533Arg) c.4541A>G (p.Gln1514Arg) c.4268A>G (p.Gln1423Arg) c.4655A>G (p.Gln1552Arg) c.4589A>G (p.Gln1530Arg) c.4529A>G (p.Gln1510Arg) c.4415A>G (p.Gln1472Arg) c.4394A>G (p.Gln1465Arg) c.4259A>G (p.Gln1420Arg) c.4199A>G (p.Gln1400Arg) c.4133A>G (p.Gln1378Arg) c.4130A>G (p.Gln1377Arg) c.4121A>G (p.Gln1374Arg) c.4064A>G (p.Gln1355Arg) c.3947A>G (p.Gln1316Arg) | |
| 3 | g.77644830A>T | CA353533669 | ROBO2 | c.4256A>T (p.Gln1419Leu) c.4247A>T (p.Gln1416Leu) c.4142A>T (p.Gln1381Leu) c.4334A>T (p.Gln1445Leu) c.*1004A>T (n.*1004A>T) c.4346A>T (p.Gln1449Leu) c.4520A>T (p.Gln1507Leu) c.*2494A>T (n.*2494A>T) c.4187A>T (p.Gln1396Leu) c.602A>T (p.Gln201Leu) c.4244A>T (p.Gln1415Leu) c.4061A>T (p.Gln1354Leu) n.6049A>T c.*2505A>T (n.*2505A>T) c.555A>T c.4109A>T (p.Gln1370Leu) c.519A>T c.3677A>T (p.Gln1226Leu) c.4073A>T (p.Gln1358Leu) c.2282A>T (p.Gln761Leu) c.4724A>T (p.Gln1575Leu) c.4598A>T (p.Gln1533Leu) c.4541A>T (p.Gln1514Leu) c.4268A>T (p.Gln1423Leu) c.4655A>T (p.Gln1552Leu) c.4589A>T (p.Gln1530Leu) c.4529A>T (p.Gln1510Leu) c.4415A>T (p.Gln1472Leu) c.4394A>T (p.Gln1465Leu) c.4259A>T (p.Gln1420Leu) c.4199A>T (p.Gln1400Leu) c.4133A>T (p.Gln1378Leu) c.4130A>T (p.Gln1377Leu) c.4121A>T (p.Gln1374Leu) c.4064A>T (p.Gln1355Leu) c.3947A>T (p.Gln1316Leu) | |
| 3 | g.77644831G>A | CA2497834 | ROBO2 | c.4257G>A (p.Gln1419=) c.4248G>A (p.Gln1416=) c.4143G>A (p.Gln1381=) c.4335G>A (p.Gln1445=) c.*1005G>A (n.*1005G>A) c.4347G>A (p.Gln1449=) c.4521G>A (p.Gln1507=) c.*2495G>A (n.*2495G>A) c.4188G>A (p.Gln1396=) c.603G>A (p.Gln201=) c.4245G>A (p.Gln1415=) c.4062G>A (p.Gln1354=) n.6050G>A c.*2506G>A (n.*2506G>A) c.556G>A c.4110G>A (p.Gln1370=) c.520G>A c.3678G>A (p.Gln1226=) c.4074G>A (p.Gln1358=) c.2283G>A (p.Gln761=) c.4725G>A (p.Gln1575=) c.4599G>A (p.Gln1533=) c.4542G>A (p.Gln1514=) c.4269G>A (p.Gln1423=) c.4656G>A (p.Gln1552=) c.4590G>A (p.Gln1530=) c.4530G>A (p.Gln1510=) c.4416G>A (p.Gln1472=) c.4395G>A (p.Gln1465=) c.4260G>A (p.Gln1420=) c.4200G>A (p.Gln1400=) c.4134G>A (p.Gln1378=) c.4131G>A (p.Gln1377=) c.4122G>A (p.Gln1374=) c.4065G>A (p.Gln1355=) c.3948G>A (p.Gln1316=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.77644831G>C | CA353533673 | ROBO2 | c.4257G>C (p.Gln1419His) c.4248G>C (p.Gln1416His) c.4143G>C (p.Gln1381His) c.4335G>C (p.Gln1445His) c.*1005G>C (n.*1005G>C) c.4347G>C (p.Gln1449His) c.4521G>C (p.Gln1507His) c.*2495G>C (n.*2495G>C) c.4188G>C (p.Gln1396His) c.603G>C (p.Gln201His) c.4245G>C (p.Gln1415His) c.4062G>C (p.Gln1354His) n.6050G>C c.*2506G>C (n.*2506G>C) c.556G>C c.4110G>C (p.Gln1370His) c.520G>C c.3678G>C (p.Gln1226His) c.4074G>C (p.Gln1358His) c.2283G>C (p.Gln761His) c.4725G>C (p.Gln1575His) c.4599G>C (p.Gln1533His) c.4542G>C (p.Gln1514His) c.4269G>C (p.Gln1423His) c.4656G>C (p.Gln1552His) c.4590G>C (p.Gln1530His) c.4530G>C (p.Gln1510His) c.4416G>C (p.Gln1472His) c.4395G>C (p.Gln1465His) c.4260G>C (p.Gln1420His) c.4200G>C (p.Gln1400His) c.4134G>C (p.Gln1378His) c.4131G>C (p.Gln1377His) c.4122G>C (p.Gln1374His) c.4065G>C (p.Gln1355His) c.3948G>C (p.Gln1316His) | COSMIC COSMIC |
| 3 | g.77644831G= | CA1376777965 | ROBO2 | c.4257G= (p.Gln1419=) c.4248G= (p.Gln1416=) c.4143G= (p.Gln1381=) c.4335G= (p.Gln1445=) c.*1005G= (n.*1005G=) c.4347G= (p.Gln1449=) c.4521G= (p.Gln1507=) c.*2495G= (n.*2495G=) c.4188G= (p.Gln1396=) c.603G= (p.Gln201=) c.4245G= (p.Gln1415=) c.4062G= (p.Gln1354=) n.6050G= c.*2506G= (n.*2506G=) c.556G= c.4110G= (p.Gln1370=) c.520G= c.3678G= (p.Gln1226=) c.4074G= (p.Gln1358=) c.2283G= (p.Gln761=) c.4725G= (p.Gln1575=) c.4599G= (p.Gln1533=) c.4542G= (p.Gln1514=) c.4269G= (p.Gln1423=) c.4656G= (p.Gln1552=) c.4590G= (p.Gln1530=) c.4530G= (p.Gln1510=) c.4416G= (p.Gln1472=) c.4395G= (p.Gln1465=) c.4260G= (p.Gln1420=) c.4200G= (p.Gln1400=) c.4134G= (p.Gln1378=) c.4131G= (p.Gln1377=) c.4122G= (p.Gln1374=) c.4065G= (p.Gln1355=) c.3948G= (p.Gln1316=) | |
| 3 | g.77644831G>T | CA353533671 | ROBO2 | c.4257G>T (p.Gln1419His) c.4248G>T (p.Gln1416His) c.4143G>T (p.Gln1381His) c.4335G>T (p.Gln1445His) c.*1005G>T (n.*1005G>T) c.4347G>T (p.Gln1449His) c.4521G>T (p.Gln1507His) c.*2495G>T (n.*2495G>T) c.4188G>T (p.Gln1396His) c.603G>T (p.Gln201His) c.4245G>T (p.Gln1415His) c.4062G>T (p.Gln1354His) n.6050G>T c.*2506G>T (n.*2506G>T) c.556G>T c.4110G>T (p.Gln1370His) c.520G>T c.3678G>T (p.Gln1226His) c.4074G>T (p.Gln1358His) c.2283G>T (p.Gln761His) c.4725G>T (p.Gln1575His) c.4599G>T (p.Gln1533His) c.4542G>T (p.Gln1514His) c.4269G>T (p.Gln1423His) c.4656G>T (p.Gln1552His) c.4590G>T (p.Gln1530His) c.4530G>T (p.Gln1510His) c.4416G>T (p.Gln1472His) c.4395G>T (p.Gln1465His) c.4260G>T (p.Gln1420His) c.4200G>T (p.Gln1400His) c.4134G>T (p.Gln1378His) c.4131G>T (p.Gln1377His) c.4122G>T (p.Gln1374His) c.4065G>T (p.Gln1355His) c.3948G>T (p.Gln1316His) | |
| 3 | g.77644832C>A | CA353533675 | ROBO2 | c.4258C>A (p.Arg1420Ser) c.4249C>A (p.Arg1417Ser) c.4144C>A (p.Arg1382Ser) c.4336C>A (p.Arg1446Ser) c.*1006C>A (n.*1006C>A) c.4348C>A (p.Arg1450Ser) c.4522C>A (p.Arg1508Ser) c.*2496C>A (n.*2496C>A) c.4189C>A (p.Arg1397Ser) c.604C>A (p.Arg202Ser) c.4246C>A (p.Arg1416Ser) c.4063C>A (p.Arg1355Ser) n.6051C>A c.*2507C>A (n.*2507C>A) c.557C>A c.4111C>A (p.Arg1371Ser) c.521C>A c.3679C>A (p.Arg1227Ser) c.4075C>A (p.Arg1359Ser) c.2284C>A (p.Arg762Ser) c.4726C>A (p.Arg1576Ser) c.4600C>A (p.Arg1534Ser) c.4543C>A (p.Arg1515Ser) c.4270C>A (p.Arg1424Ser) c.4657C>A (p.Arg1553Ser) c.4591C>A (p.Arg1531Ser) c.4531C>A (p.Arg1511Ser) c.4417C>A (p.Arg1473Ser) c.4396C>A (p.Arg1466Ser) c.4261C>A (p.Arg1421Ser) c.4201C>A (p.Arg1401Ser) c.4135C>A (p.Arg1379Ser) c.4132C>A (p.Arg1378Ser) c.4123C>A (p.Arg1375Ser) c.4066C>A (p.Arg1356Ser) c.3949C>A (p.Arg1317Ser) | gnomAD v4 COSMIC COSMIC |
| 3 | g.77644832C= | CA1376777966 | ROBO2 | c.4258C= (p.Arg1420=) c.4249C= (p.Arg1417=) c.4144C= (p.Arg1382=) c.4336C= (p.Arg1446=) c.*1006C= (n.*1006C=) c.4348C= (p.Arg1450=) c.4522C= (p.Arg1508=) c.*2496C= (n.*2496C=) c.4189C= (p.Arg1397=) c.604C= (p.Arg202=) c.4246C= (p.Arg1416=) c.4063C= (p.Arg1355=) n.6051C= c.*2507C= (n.*2507C=) c.557C= c.4111C= (p.Arg1371=) c.521C= c.3679C= (p.Arg1227=) c.4075C= (p.Arg1359=) c.2284C= (p.Arg762=) c.4726C= (p.Arg1576=) c.4600C= (p.Arg1534=) c.4543C= (p.Arg1515=) c.4270C= (p.Arg1424=) c.4657C= (p.Arg1553=) c.4591C= (p.Arg1531=) c.4531C= (p.Arg1511=) c.4417C= (p.Arg1473=) c.4396C= (p.Arg1466=) c.4261C= (p.Arg1421=) c.4201C= (p.Arg1401=) c.4135C= (p.Arg1379=) c.4132C= (p.Arg1378=) c.4123C= (p.Arg1375=) c.4066C= (p.Arg1356=) c.3949C= (p.Arg1317=) | |
| 3 | g.77644832C>G | CA353533677 | ROBO2 | c.4258C>G (p.Arg1420Gly) c.4249C>G (p.Arg1417Gly) c.4144C>G (p.Arg1382Gly) c.4336C>G (p.Arg1446Gly) c.*1006C>G (n.*1006C>G) c.4348C>G (p.Arg1450Gly) c.4522C>G (p.Arg1508Gly) c.*2496C>G (n.*2496C>G) c.4189C>G (p.Arg1397Gly) c.604C>G (p.Arg202Gly) c.4246C>G (p.Arg1416Gly) c.4063C>G (p.Arg1355Gly) n.6051C>G c.*2507C>G (n.*2507C>G) c.557C>G c.4111C>G (p.Arg1371Gly) c.521C>G c.3679C>G (p.Arg1227Gly) c.4075C>G (p.Arg1359Gly) c.2284C>G (p.Arg762Gly) c.4726C>G (p.Arg1576Gly) c.4600C>G (p.Arg1534Gly) c.4543C>G (p.Arg1515Gly) c.4270C>G (p.Arg1424Gly) c.4657C>G (p.Arg1553Gly) c.4591C>G (p.Arg1531Gly) c.4531C>G (p.Arg1511Gly) c.4417C>G (p.Arg1473Gly) c.4396C>G (p.Arg1466Gly) c.4261C>G (p.Arg1421Gly) c.4201C>G (p.Arg1401Gly) c.4135C>G (p.Arg1379Gly) c.4132C>G (p.Arg1378Gly) c.4123C>G (p.Arg1375Gly) c.4066C>G (p.Arg1356Gly) c.3949C>G (p.Arg1317Gly) | |
| 3 | g.77644832C>T | CA2497835 | ROBO2 | c.4258C>T (p.Arg1420Cys) c.4249C>T (p.Arg1417Cys) c.4144C>T (p.Arg1382Cys) c.4336C>T (p.Arg1446Cys) c.*1006C>T (n.*1006C>T) c.4348C>T (p.Arg1450Cys) c.4522C>T (p.Arg1508Cys) c.*2496C>T (n.*2496C>T) c.4189C>T (p.Arg1397Cys) c.604C>T (p.Arg202Cys) c.4246C>T (p.Arg1416Cys) c.4063C>T (p.Arg1355Cys) n.6051C>T c.*2507C>T (n.*2507C>T) c.557C>T c.4111C>T (p.Arg1371Cys) c.521C>T c.3679C>T (p.Arg1227Cys) c.4075C>T (p.Arg1359Cys) c.2284C>T (p.Arg762Cys) c.4726C>T (p.Arg1576Cys) c.4600C>T (p.Arg1534Cys) c.4543C>T (p.Arg1515Cys) c.4270C>T (p.Arg1424Cys) c.4657C>T (p.Arg1553Cys) c.4591C>T (p.Arg1531Cys) c.4531C>T (p.Arg1511Cys) c.4417C>T (p.Arg1473Cys) c.4396C>T (p.Arg1466Cys) c.4261C>T (p.Arg1421Cys) c.4201C>T (p.Arg1401Cys) c.4135C>T (p.Arg1379Cys) c.4132C>T (p.Arg1378Cys) c.4123C>T (p.Arg1375Cys) c.4066C>T (p.Arg1356Cys) c.3949C>T (p.Arg1317Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.77644833G>A | CA2497836 | ROBO2 | c.4259G>A (p.Arg1420His) c.4250G>A (p.Arg1417His) c.4145G>A (p.Arg1382His) c.4337G>A (p.Arg1446His) c.*1007G>A (n.*1007G>A) c.4349G>A (p.Arg1450His) c.4523G>A (p.Arg1508His) c.*2497G>A (n.*2497G>A) c.4190G>A (p.Arg1397His) c.605G>A (p.Arg202His) c.4247G>A (p.Arg1416His) c.4064G>A (p.Arg1355His) n.6052G>A c.*2508G>A (n.*2508G>A) c.558G>A c.4112G>A (p.Arg1371His) c.522G>A c.3680G>A (p.Arg1227His) c.4076G>A (p.Arg1359His) c.2285G>A (p.Arg762His) c.4727G>A (p.Arg1576His) c.4601G>A (p.Arg1534His) c.4544G>A (p.Arg1515His) c.4271G>A (p.Arg1424His) c.4658G>A (p.Arg1553His) c.4592G>A (p.Arg1531His) c.4532G>A (p.Arg1511His) c.4418G>A (p.Arg1473His) c.4397G>A (p.Arg1466His) c.4262G>A (p.Arg1421His) c.4202G>A (p.Arg1401His) c.4136G>A (p.Arg1379His) c.4133G>A (p.Arg1378His) c.4124G>A (p.Arg1375His) c.4067G>A (p.Arg1356His) c.3950G>A (p.Arg1317His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.77644833G>C | CA353533681 | ROBO2 | c.4259G>C (p.Arg1420Pro) c.4250G>C (p.Arg1417Pro) c.4145G>C (p.Arg1382Pro) c.4337G>C (p.Arg1446Pro) c.*1007G>C (n.*1007G>C) c.4349G>C (p.Arg1450Pro) c.4523G>C (p.Arg1508Pro) c.*2497G>C (n.*2497G>C) c.4190G>C (p.Arg1397Pro) c.605G>C (p.Arg202Pro) c.4247G>C (p.Arg1416Pro) c.4064G>C (p.Arg1355Pro) n.6052G>C c.*2508G>C (n.*2508G>C) c.558G>C c.4112G>C (p.Arg1371Pro) c.522G>C c.3680G>C (p.Arg1227Pro) c.4076G>C (p.Arg1359Pro) c.2285G>C (p.Arg762Pro) c.4727G>C (p.Arg1576Pro) c.4601G>C (p.Arg1534Pro) c.4544G>C (p.Arg1515Pro) c.4271G>C (p.Arg1424Pro) c.4658G>C (p.Arg1553Pro) c.4592G>C (p.Arg1531Pro) c.4532G>C (p.Arg1511Pro) c.4418G>C (p.Arg1473Pro) c.4397G>C (p.Arg1466Pro) c.4262G>C (p.Arg1421Pro) c.4202G>C (p.Arg1401Pro) c.4136G>C (p.Arg1379Pro) c.4133G>C (p.Arg1378Pro) c.4124G>C (p.Arg1375Pro) c.4067G>C (p.Arg1356Pro) c.3950G>C (p.Arg1317Pro) | |
| 3 | g.77644833G= | CA1376777967 | ROBO2 | c.4259G= (p.Arg1420=) c.4250G= (p.Arg1417=) c.4145G= (p.Arg1382=) c.4337G= (p.Arg1446=) c.*1007G= (n.*1007G=) c.4349G= (p.Arg1450=) c.4523G= (p.Arg1508=) c.*2497G= (n.*2497G=) c.4190G= (p.Arg1397=) c.605G= (p.Arg202=) c.4247G= (p.Arg1416=) c.4064G= (p.Arg1355=) n.6052G= c.*2508G= (n.*2508G=) c.558G= c.4112G= (p.Arg1371=) c.522G= c.3680G= (p.Arg1227=) c.4076G= (p.Arg1359=) c.2285G= (p.Arg762=) c.4727G= (p.Arg1576=) c.4601G= (p.Arg1534=) c.4544G= (p.Arg1515=) c.4271G= (p.Arg1424=) c.4658G= (p.Arg1553=) c.4592G= (p.Arg1531=) c.4532G= (p.Arg1511=) c.4418G= (p.Arg1473=) c.4397G= (p.Arg1466=) c.4262G= (p.Arg1421=) c.4202G= (p.Arg1401=) c.4136G= (p.Arg1379=) c.4133G= (p.Arg1378=) c.4124G= (p.Arg1375=) c.4067G= (p.Arg1356=) c.3950G= (p.Arg1317=) | |
| 3 | g.77644833G>T | CA353533682 | ROBO2 | c.4259G>T (p.Arg1420Leu) c.4250G>T (p.Arg1417Leu) c.4145G>T (p.Arg1382Leu) c.4337G>T (p.Arg1446Leu) c.*1007G>T (n.*1007G>T) c.4349G>T (p.Arg1450Leu) c.4523G>T (p.Arg1508Leu) c.*2497G>T (n.*2497G>T) c.4190G>T (p.Arg1397Leu) c.605G>T (p.Arg202Leu) c.4247G>T (p.Arg1416Leu) c.4064G>T (p.Arg1355Leu) n.6052G>T c.*2508G>T (n.*2508G>T) c.558G>T c.4112G>T (p.Arg1371Leu) c.522G>T c.3680G>T (p.Arg1227Leu) c.4076G>T (p.Arg1359Leu) c.2285G>T (p.Arg762Leu) c.4727G>T (p.Arg1576Leu) c.4601G>T (p.Arg1534Leu) c.4544G>T (p.Arg1515Leu) c.4271G>T (p.Arg1424Leu) c.4658G>T (p.Arg1553Leu) c.4592G>T (p.Arg1531Leu) c.4532G>T (p.Arg1511Leu) c.4418G>T (p.Arg1473Leu) c.4397G>T (p.Arg1466Leu) c.4262G>T (p.Arg1421Leu) c.4202G>T (p.Arg1401Leu) c.4136G>T (p.Arg1379Leu) c.4133G>T (p.Arg1378Leu) c.4124G>T (p.Arg1375Leu) c.4067G>T (p.Arg1356Leu) c.3950G>T (p.Arg1317Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.77644834C>A | CA434435324 | ROBO2 | c.4260C>A (p.Arg1420=) c.4251C>A (p.Arg1417=) c.4146C>A (p.Arg1382=) c.4338C>A (p.Arg1446=) c.*1008C>A (n.*1008C>A) c.4350C>A (p.Arg1450=) c.4524C>A (p.Arg1508=) c.*2498C>A (n.*2498C>A) c.4191C>A (p.Arg1397=) c.606C>A (p.Arg202=) c.4248C>A (p.Arg1416=) c.4065C>A (p.Arg1355=) n.6053C>A c.*2509C>A (n.*2509C>A) c.559C>A c.4113C>A (p.Arg1371=) c.523C>A c.3681C>A (p.Arg1227=) c.4077C>A (p.Arg1359=) c.2286C>A (p.Arg762=) c.4728C>A (p.Arg1576=) c.4602C>A (p.Arg1534=) c.4545C>A (p.Arg1515=) c.4272C>A (p.Arg1424=) c.4659C>A (p.Arg1553=) c.4593C>A (p.Arg1531=) c.4533C>A (p.Arg1511=) c.4419C>A (p.Arg1473=) c.4398C>A (p.Arg1466=) c.4263C>A (p.Arg1421=) c.4203C>A (p.Arg1401=) c.4137C>A (p.Arg1379=) c.4134C>A (p.Arg1378=) c.4125C>A (p.Arg1375=) c.4068C>A (p.Arg1356=) c.3951C>A (p.Arg1317=) | |
| 3 | g.77644834C>G | CA434435325 | ROBO2 | c.4260C>G (p.Arg1420=) c.4251C>G (p.Arg1417=) c.4146C>G (p.Arg1382=) c.4338C>G (p.Arg1446=) c.*1008C>G (n.*1008C>G) c.4350C>G (p.Arg1450=) c.4524C>G (p.Arg1508=) c.*2498C>G (n.*2498C>G) c.4191C>G (p.Arg1397=) c.606C>G (p.Arg202=) c.4248C>G (p.Arg1416=) c.4065C>G (p.Arg1355=) n.6053C>G c.*2509C>G (n.*2509C>G) c.559C>G c.4113C>G (p.Arg1371=) c.523C>G c.3681C>G (p.Arg1227=) c.4077C>G (p.Arg1359=) c.2286C>G (p.Arg762=) c.4728C>G (p.Arg1576=) c.4602C>G (p.Arg1534=) c.4545C>G (p.Arg1515=) c.4272C>G (p.Arg1424=) c.4659C>G (p.Arg1553=) c.4593C>G (p.Arg1531=) c.4533C>G (p.Arg1511=) c.4419C>G (p.Arg1473=) c.4398C>G (p.Arg1466=) c.4263C>G (p.Arg1421=) c.4203C>G (p.Arg1401=) c.4137C>G (p.Arg1379=) c.4134C>G (p.Arg1378=) c.4125C>G (p.Arg1375=) c.4068C>G (p.Arg1356=) c.3951C>G (p.Arg1317=) | |
| 3 | g.77644834C>T | CA434435323 | ROBO2 | c.4260C>T (p.Arg1420=) c.4251C>T (p.Arg1417=) c.4146C>T (p.Arg1382=) c.4338C>T (p.Arg1446=) c.*1008C>T (n.*1008C>T) c.4350C>T (p.Arg1450=) c.4524C>T (p.Arg1508=) c.*2498C>T (n.*2498C>T) c.4191C>T (p.Arg1397=) c.606C>T (p.Arg202=) c.4248C>T (p.Arg1416=) c.4065C>T (p.Arg1355=) n.6053C>T c.*2509C>T (n.*2509C>T) c.559C>T c.4113C>T (p.Arg1371=) c.523C>T c.3681C>T (p.Arg1227=) c.4077C>T (p.Arg1359=) c.2286C>T (p.Arg762=) c.4728C>T (p.Arg1576=) c.4602C>T (p.Arg1534=) c.4545C>T (p.Arg1515=) c.4272C>T (p.Arg1424=) c.4659C>T (p.Arg1553=) c.4593C>T (p.Arg1531=) c.4533C>T (p.Arg1511=) c.4419C>T (p.Arg1473=) c.4398C>T (p.Arg1466=) c.4263C>T (p.Arg1421=) c.4203C>T (p.Arg1401=) c.4137C>T (p.Arg1379=) c.4134C>T (p.Arg1378=) c.4125C>T (p.Arg1375=) c.4068C>T (p.Arg1356=) c.3951C>T (p.Arg1317=) | |
| 3 | g.77644835A>C | CA353533688 | ROBO2 | c.4261A>C (p.Asn1421His) c.4252A>C (p.Asn1418His) c.4147A>C (p.Asn1383His) c.4339A>C (p.Asn1447His) c.*1009A>C (n.*1009A>C) c.4351A>C (p.Asn1451His) c.4525A>C (p.Asn1509His) c.*2499A>C (n.*2499A>C) c.4192A>C (p.Asn1398His) c.607A>C (p.Asn203His) c.4249A>C (p.Asn1417His) c.4066A>C (p.Asn1356His) n.6054A>C c.*2510A>C (n.*2510A>C) c.560A>C c.4114A>C (p.Asn1372His) c.524A>C c.3682A>C (p.Asn1228His) c.4078A>C (p.Asn1360His) c.2287A>C (p.Asn763His) c.4729A>C (p.Asn1577His) c.4603A>C (p.Asn1535His) c.4546A>C (p.Asn1516His) c.4273A>C (p.Asn1425His) c.4660A>C (p.Asn1554His) c.4594A>C (p.Asn1532His) c.4534A>C (p.Asn1512His) c.4420A>C (p.Asn1474His) c.4399A>C (p.Asn1467His) c.4264A>C (p.Asn1422His) c.4204A>C (p.Asn1402His) c.4138A>C (p.Asn1380His) c.4135A>C (p.Asn1379His) c.4126A>C (p.Asn1376His) c.4069A>C (p.Asn1357His) c.3952A>C (p.Asn1318His) | |
| 3 | g.77644835A>G | CA353533685 | ROBO2 | c.4261A>G (p.Asn1421Asp) c.4252A>G (p.Asn1418Asp) c.4147A>G (p.Asn1383Asp) c.4339A>G (p.Asn1447Asp) c.*1009A>G (n.*1009A>G) c.4351A>G (p.Asn1451Asp) c.4525A>G (p.Asn1509Asp) c.*2499A>G (n.*2499A>G) c.4192A>G (p.Asn1398Asp) c.607A>G (p.Asn203Asp) c.4249A>G (p.Asn1417Asp) c.4066A>G (p.Asn1356Asp) n.6054A>G c.*2510A>G (n.*2510A>G) c.560A>G c.4114A>G (p.Asn1372Asp) c.524A>G c.3682A>G (p.Asn1228Asp) c.4078A>G (p.Asn1360Asp) c.2287A>G (p.Asn763Asp) c.4729A>G (p.Asn1577Asp) c.4603A>G (p.Asn1535Asp) c.4546A>G (p.Asn1516Asp) c.4273A>G (p.Asn1425Asp) c.4660A>G (p.Asn1554Asp) c.4594A>G (p.Asn1532Asp) c.4534A>G (p.Asn1512Asp) c.4420A>G (p.Asn1474Asp) c.4399A>G (p.Asn1467Asp) c.4264A>G (p.Asn1422Asp) c.4204A>G (p.Asn1402Asp) c.4138A>G (p.Asn1380Asp) c.4135A>G (p.Asn1379Asp) c.4126A>G (p.Asn1376Asp) c.4069A>G (p.Asn1357Asp) c.3952A>G (p.Asn1318Asp) | |
| 3 | g.77644835A>T | CA353533687 | ROBO2 | c.4261A>T (p.Asn1421Tyr) c.4252A>T (p.Asn1418Tyr) c.4147A>T (p.Asn1383Tyr) c.4339A>T (p.Asn1447Tyr) c.*1009A>T (n.*1009A>T) c.4351A>T (p.Asn1451Tyr) c.4525A>T (p.Asn1509Tyr) c.*2499A>T (n.*2499A>T) c.4192A>T (p.Asn1398Tyr) c.607A>T (p.Asn203Tyr) c.4249A>T (p.Asn1417Tyr) c.4066A>T (p.Asn1356Tyr) n.6054A>T c.*2510A>T (n.*2510A>T) c.560A>T c.4114A>T (p.Asn1372Tyr) c.524A>T c.3682A>T (p.Asn1228Tyr) c.4078A>T (p.Asn1360Tyr) c.2287A>T (p.Asn763Tyr) c.4729A>T (p.Asn1577Tyr) c.4603A>T (p.Asn1535Tyr) c.4546A>T (p.Asn1516Tyr) c.4273A>T (p.Asn1425Tyr) c.4660A>T (p.Asn1554Tyr) c.4594A>T (p.Asn1532Tyr) c.4534A>T (p.Asn1512Tyr) c.4420A>T (p.Asn1474Tyr) c.4399A>T (p.Asn1467Tyr) c.4264A>T (p.Asn1422Tyr) c.4204A>T (p.Asn1402Tyr) c.4138A>T (p.Asn1380Tyr) c.4135A>T (p.Asn1379Tyr) c.4126A>T (p.Asn1376Tyr) c.4069A>T (p.Asn1357Tyr) c.3952A>T (p.Asn1318Tyr) | |
| 3 | g.77644836A= | CA1376777968 | ROBO2 | c.4262A= (p.Asn1421=) c.4253A= (p.Asn1418=) c.4148A= (p.Asn1383=) c.4340A= (p.Asn1447=) c.*1010A= (n.*1010A=) c.4352A= (p.Asn1451=) c.4526A= (p.Asn1509=) c.*2500A= (n.*2500A=) c.4193A= (p.Asn1398=) c.608A= (p.Asn203=) c.4250A= (p.Asn1417=) c.4067A= (p.Asn1356=) n.6055A= c.*2511A= (n.*2511A=) c.561A= c.4115A= (p.Asn1372=) c.525A= c.3683A= (p.Asn1228=) c.4079A= (p.Asn1360=) c.2288A= (p.Asn763=) c.4730A= (p.Asn1577=) c.4604A= (p.Asn1535=) c.4547A= (p.Asn1516=) c.4274A= (p.Asn1425=) c.4661A= (p.Asn1554=) c.4595A= (p.Asn1532=) c.4535A= (p.Asn1512=) c.4421A= (p.Asn1474=) c.4400A= (p.Asn1467=) c.4265A= (p.Asn1422=) c.4205A= (p.Asn1402=) c.4139A= (p.Asn1380=) c.4136A= (p.Asn1379=) c.4127A= (p.Asn1376=) c.4070A= (p.Asn1357=) c.3953A= (p.Asn1318=) | |
| 3 | g.77644836A>C | CA353533690 | ROBO2 | c.4262A>C (p.Asn1421Thr) c.4253A>C (p.Asn1418Thr) c.4148A>C (p.Asn1383Thr) c.4340A>C (p.Asn1447Thr) c.*1010A>C (n.*1010A>C) c.4352A>C (p.Asn1451Thr) c.4526A>C (p.Asn1509Thr) c.*2500A>C (n.*2500A>C) c.4193A>C (p.Asn1398Thr) c.608A>C (p.Asn203Thr) c.4250A>C (p.Asn1417Thr) c.4067A>C (p.Asn1356Thr) n.6055A>C c.*2511A>C (n.*2511A>C) c.561A>C c.4115A>C (p.Asn1372Thr) c.525A>C c.3683A>C (p.Asn1228Thr) c.4079A>C (p.Asn1360Thr) c.2288A>C (p.Asn763Thr) c.4730A>C (p.Asn1577Thr) c.4604A>C (p.Asn1535Thr) c.4547A>C (p.Asn1516Thr) c.4274A>C (p.Asn1425Thr) c.4661A>C (p.Asn1554Thr) c.4595A>C (p.Asn1532Thr) c.4535A>C (p.Asn1512Thr) c.4421A>C (p.Asn1474Thr) c.4400A>C (p.Asn1467Thr) c.4265A>C (p.Asn1422Thr) c.4205A>C (p.Asn1402Thr) c.4139A>C (p.Asn1380Thr) c.4136A>C (p.Asn1379Thr) c.4127A>C (p.Asn1376Thr) c.4070A>C (p.Asn1357Thr) c.3953A>C (p.Asn1318Thr) | |
| 3 | g.77644836A>G | CA2497837 | ROBO2 | c.4262A>G (p.Asn1421Ser) c.4253A>G (p.Asn1418Ser) c.4148A>G (p.Asn1383Ser) c.4340A>G (p.Asn1447Ser) c.*1010A>G (n.*1010A>G) c.4352A>G (p.Asn1451Ser) c.4526A>G (p.Asn1509Ser) c.*2500A>G (n.*2500A>G) c.4193A>G (p.Asn1398Ser) c.608A>G (p.Asn203Ser) c.4250A>G (p.Asn1417Ser) c.4067A>G (p.Asn1356Ser) n.6055A>G c.*2511A>G (n.*2511A>G) c.561A>G c.4115A>G (p.Asn1372Ser) c.525A>G c.3683A>G (p.Asn1228Ser) c.4079A>G (p.Asn1360Ser) c.2288A>G (p.Asn763Ser) c.4730A>G (p.Asn1577Ser) c.4604A>G (p.Asn1535Ser) c.4547A>G (p.Asn1516Ser) c.4274A>G (p.Asn1425Ser) c.4661A>G (p.Asn1554Ser) c.4595A>G (p.Asn1532Ser) c.4535A>G (p.Asn1512Ser) c.4421A>G (p.Asn1474Ser) c.4400A>G (p.Asn1467Ser) c.4265A>G (p.Asn1422Ser) c.4205A>G (p.Asn1402Ser) c.4139A>G (p.Asn1380Ser) c.4136A>G (p.Asn1379Ser) c.4127A>G (p.Asn1376Ser) c.4070A>G (p.Asn1357Ser) c.3953A>G (p.Asn1318Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.77644836A>T | CA353533692 | ROBO2 | c.4262A>T (p.Asn1421Ile) c.4253A>T (p.Asn1418Ile) c.4148A>T (p.Asn1383Ile) c.4340A>T (p.Asn1447Ile) c.*1010A>T (n.*1010A>T) c.4352A>T (p.Asn1451Ile) c.4526A>T (p.Asn1509Ile) c.*2500A>T (n.*2500A>T) c.4193A>T (p.Asn1398Ile) c.608A>T (p.Asn203Ile) c.4250A>T (p.Asn1417Ile) c.4067A>T (p.Asn1356Ile) n.6055A>T c.*2511A>T (n.*2511A>T) c.561A>T c.4115A>T (p.Asn1372Ile) c.525A>T c.3683A>T (p.Asn1228Ile) c.4079A>T (p.Asn1360Ile) c.2288A>T (p.Asn763Ile) c.4730A>T (p.Asn1577Ile) c.4604A>T (p.Asn1535Ile) c.4547A>T (p.Asn1516Ile) c.4274A>T (p.Asn1425Ile) c.4661A>T (p.Asn1554Ile) c.4595A>T (p.Asn1532Ile) c.4535A>T (p.Asn1512Ile) c.4421A>T (p.Asn1474Ile) c.4400A>T (p.Asn1467Ile) c.4265A>T (p.Asn1422Ile) c.4205A>T (p.Asn1402Ile) c.4139A>T (p.Asn1380Ile) c.4136A>T (p.Asn1379Ile) c.4127A>T (p.Asn1376Ile) c.4070A>T (p.Asn1357Ile) c.3953A>T (p.Asn1318Ile) | |
| 3 | g.77644837T>A | CA353533694 | ROBO2 | c.4263T>A (p.Asn1421Lys) c.4254T>A (p.Asn1418Lys) c.4149T>A (p.Asn1383Lys) c.4341T>A (p.Asn1447Lys) c.*1011T>A (n.*1011T>A) c.4353T>A (p.Asn1451Lys) c.4527T>A (p.Asn1509Lys) c.*2501T>A (n.*2501T>A) c.4194T>A (p.Asn1398Lys) c.609T>A (p.Asn203Lys) c.4251T>A (p.Asn1417Lys) c.4068T>A (p.Asn1356Lys) n.6056T>A c.*2512T>A (n.*2512T>A) c.562T>A c.4116T>A (p.Asn1372Lys) c.526T>A c.3684T>A (p.Asn1228Lys) c.4080T>A (p.Asn1360Lys) c.2289T>A (p.Asn763Lys) c.4731T>A (p.Asn1577Lys) c.4605T>A (p.Asn1535Lys) c.4548T>A (p.Asn1516Lys) c.4275T>A (p.Asn1425Lys) c.4662T>A (p.Asn1554Lys) c.4596T>A (p.Asn1532Lys) c.4536T>A (p.Asn1512Lys) c.4422T>A (p.Asn1474Lys) c.4401T>A (p.Asn1467Lys) c.4266T>A (p.Asn1422Lys) c.4206T>A (p.Asn1402Lys) c.4140T>A (p.Asn1380Lys) c.4137T>A (p.Asn1379Lys) c.4128T>A (p.Asn1376Lys) c.4071T>A (p.Asn1357Lys) c.3954T>A (p.Asn1318Lys) | |
| 3 | g.77644837T>C | CA434435328 | ROBO2 | c.4263T>C (p.Asn1421=) c.4254T>C (p.Asn1418=) c.4149T>C (p.Asn1383=) c.4341T>C (p.Asn1447=) c.*1011T>C (n.*1011T>C) c.4353T>C (p.Asn1451=) c.4527T>C (p.Asn1509=) c.*2501T>C (n.*2501T>C) c.4194T>C (p.Asn1398=) c.609T>C (p.Asn203=) c.4251T>C (p.Asn1417=) c.4068T>C (p.Asn1356=) n.6056T>C c.*2512T>C (n.*2512T>C) c.562T>C c.4116T>C (p.Asn1372=) c.526T>C c.3684T>C (p.Asn1228=) c.4080T>C (p.Asn1360=) c.2289T>C (p.Asn763=) c.4731T>C (p.Asn1577=) c.4605T>C (p.Asn1535=) c.4548T>C (p.Asn1516=) c.4275T>C (p.Asn1425=) c.4662T>C (p.Asn1554=) c.4596T>C (p.Asn1532=) c.4536T>C (p.Asn1512=) c.4422T>C (p.Asn1474=) c.4401T>C (p.Asn1467=) c.4266T>C (p.Asn1422=) c.4206T>C (p.Asn1402=) c.4140T>C (p.Asn1380=) c.4137T>C (p.Asn1379=) c.4128T>C (p.Asn1376=) c.4071T>C (p.Asn1357=) c.3954T>C (p.Asn1318=) | |
| 3 | g.77644837T>G | CA353533696 | ROBO2 | c.4263T>G (p.Asn1421Lys) c.4254T>G (p.Asn1418Lys) c.4149T>G (p.Asn1383Lys) c.4341T>G (p.Asn1447Lys) c.*1011T>G (n.*1011T>G) c.4353T>G (p.Asn1451Lys) c.4527T>G (p.Asn1509Lys) c.*2501T>G (n.*2501T>G) c.4194T>G (p.Asn1398Lys) c.609T>G (p.Asn203Lys) c.4251T>G (p.Asn1417Lys) c.4068T>G (p.Asn1356Lys) n.6056T>G c.*2512T>G (n.*2512T>G) c.562T>G c.4116T>G (p.Asn1372Lys) c.526T>G c.3684T>G (p.Asn1228Lys) c.4080T>G (p.Asn1360Lys) c.2289T>G (p.Asn763Lys) c.4731T>G (p.Asn1577Lys) c.4605T>G (p.Asn1535Lys) c.4548T>G (p.Asn1516Lys) c.4275T>G (p.Asn1425Lys) c.4662T>G (p.Asn1554Lys) c.4596T>G (p.Asn1532Lys) c.4536T>G (p.Asn1512Lys) c.4422T>G (p.Asn1474Lys) c.4401T>G (p.Asn1467Lys) c.4266T>G (p.Asn1422Lys) c.4206T>G (p.Asn1402Lys) c.4140T>G (p.Asn1380Lys) c.4137T>G (p.Asn1379Lys) c.4128T>G (p.Asn1376Lys) c.4071T>G (p.Asn1357Lys) c.3954T>G (p.Asn1318Lys) | |
| 3 | g.77644838G>A | CA353533702 | ROBO2 | c.4264G>A (p.Ala1422Thr) c.4255G>A (p.Ala1419Thr) c.4150G>A (p.Ala1384Thr) c.4342G>A (p.Ala1448Thr) c.*1012G>A (n.*1012G>A) c.4354G>A (p.Ala1452Thr) c.4528G>A (p.Ala1510Thr) c.*2502G>A (n.*2502G>A) c.4195G>A (p.Ala1399Thr) c.610G>A (p.Ala204Thr) c.4252G>A (p.Ala1418Thr) c.4069G>A (p.Ala1357Thr) n.6057G>A c.*2513G>A (n.*2513G>A) c.563G>A c.4117G>A (p.Ala1373Thr) c.527G>A c.3685G>A (p.Ala1229Thr) c.4081G>A (p.Ala1361Thr) c.2290G>A (p.Ala764Thr) c.4732G>A (p.Ala1578Thr) c.4606G>A (p.Ala1536Thr) c.4549G>A (p.Ala1517Thr) c.4276G>A (p.Ala1426Thr) c.4663G>A (p.Ala1555Thr) c.4597G>A (p.Ala1533Thr) c.4537G>A (p.Ala1513Thr) c.4423G>A (p.Ala1475Thr) c.4402G>A (p.Ala1468Thr) c.4267G>A (p.Ala1423Thr) c.4207G>A (p.Ala1403Thr) c.4141G>A (p.Ala1381Thr) c.4138G>A (p.Ala1380Thr) c.4129G>A (p.Ala1377Thr) c.4072G>A (p.Ala1358Thr) c.3955G>A (p.Ala1319Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.77644838G>C | CA353533698 | ROBO2 | c.4264G>C (p.Ala1422Pro) c.4255G>C (p.Ala1419Pro) c.4150G>C (p.Ala1384Pro) c.4342G>C (p.Ala1448Pro) c.*1012G>C (n.*1012G>C) c.4354G>C (p.Ala1452Pro) c.4528G>C (p.Ala1510Pro) c.*2502G>C (n.*2502G>C) c.4195G>C (p.Ala1399Pro) c.610G>C (p.Ala204Pro) c.4252G>C (p.Ala1418Pro) c.4069G>C (p.Ala1357Pro) n.6057G>C c.*2513G>C (n.*2513G>C) c.563G>C c.4117G>C (p.Ala1373Pro) c.527G>C c.3685G>C (p.Ala1229Pro) c.4081G>C (p.Ala1361Pro) c.2290G>C (p.Ala764Pro) c.4732G>C (p.Ala1578Pro) c.4606G>C (p.Ala1536Pro) c.4549G>C (p.Ala1517Pro) c.4276G>C (p.Ala1426Pro) c.4663G>C (p.Ala1555Pro) c.4597G>C (p.Ala1533Pro) c.4537G>C (p.Ala1513Pro) c.4423G>C (p.Ala1475Pro) c.4402G>C (p.Ala1468Pro) c.4267G>C (p.Ala1423Pro) c.4207G>C (p.Ala1403Pro) c.4141G>C (p.Ala1381Pro) c.4138G>C (p.Ala1380Pro) c.4129G>C (p.Ala1377Pro) c.4072G>C (p.Ala1358Pro) c.3955G>C (p.Ala1319Pro) |