Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.77644726C>A | CA353533234 | ROBO2 | c.4152C>A (p.Ser1384Arg) c.4143C>A (p.Ser1381Arg) c.4038C>A (p.Ser1346Arg) c.4230C>A (p.Ser1410Arg) c.*900C>A (n.*900C>A) c.4242C>A (p.Ser1414Arg) c.4416C>A (p.Ser1472Arg) c.*2390C>A (n.*2390C>A) c.4083C>A (p.Ser1361Arg) c.498C>A (p.Ser166Arg) c.4140C>A (p.Ser1380Arg) c.3957C>A (p.Ser1319Arg) n.5945C>A c.*2401C>A (n.*2401C>A) c.451C>A c.4005C>A (p.Ser1335Arg) c.415C>A c.3573C>A (p.Ser1191Arg) c.3969C>A (p.Ser1323Arg) c.2178C>A (p.Ser726Arg) c.4620C>A (p.Ser1540Arg) c.4494C>A (p.Ser1498Arg) c.4437C>A (p.Ser1479Arg) c.4164C>A (p.Ser1388Arg) c.4551C>A (p.Ser1517Arg) c.4485C>A (p.Ser1495Arg) c.4425C>A (p.Ser1475Arg) c.4311C>A (p.Ser1437Arg) c.4290C>A (p.Ser1430Arg) c.4155C>A (p.Ser1385Arg) c.4095C>A (p.Ser1365Arg) c.4029C>A (p.Ser1343Arg) c.4026C>A (p.Ser1342Arg) c.4017C>A (p.Ser1339Arg) c.3960C>A (p.Ser1320Arg) c.3843C>A (p.Ser1281Arg) | |
3 | g.77644726C>G | CA353533236 | ROBO2 | c.4152C>G (p.Ser1384Arg) c.4143C>G (p.Ser1381Arg) c.4038C>G (p.Ser1346Arg) c.4230C>G (p.Ser1410Arg) c.*900C>G (n.*900C>G) c.4242C>G (p.Ser1414Arg) c.4416C>G (p.Ser1472Arg) c.*2390C>G (n.*2390C>G) c.4083C>G (p.Ser1361Arg) c.498C>G (p.Ser166Arg) c.4140C>G (p.Ser1380Arg) c.3957C>G (p.Ser1319Arg) n.5945C>G c.*2401C>G (n.*2401C>G) c.451C>G c.4005C>G (p.Ser1335Arg) c.415C>G c.3573C>G (p.Ser1191Arg) c.3969C>G (p.Ser1323Arg) c.2178C>G (p.Ser726Arg) c.4620C>G (p.Ser1540Arg) c.4494C>G (p.Ser1498Arg) c.4437C>G (p.Ser1479Arg) c.4164C>G (p.Ser1388Arg) c.4551C>G (p.Ser1517Arg) c.4485C>G (p.Ser1495Arg) c.4425C>G (p.Ser1475Arg) c.4311C>G (p.Ser1437Arg) c.4290C>G (p.Ser1430Arg) c.4155C>G (p.Ser1385Arg) c.4095C>G (p.Ser1365Arg) c.4029C>G (p.Ser1343Arg) c.4026C>G (p.Ser1342Arg) c.4017C>G (p.Ser1339Arg) c.3960C>G (p.Ser1320Arg) c.3843C>G (p.Ser1281Arg) | |
3 | g.77644726C>T | CA434435236 | ROBO2 | c.4152C>T (p.Ser1384=) c.4143C>T (p.Ser1381=) c.4038C>T (p.Ser1346=) c.4230C>T (p.Ser1410=) c.*900C>T (n.*900C>T) c.4242C>T (p.Ser1414=) c.4416C>T (p.Ser1472=) c.*2390C>T (n.*2390C>T) c.4083C>T (p.Ser1361=) c.498C>T (p.Ser166=) c.4140C>T (p.Ser1380=) c.3957C>T (p.Ser1319=) n.5945C>T c.*2401C>T (n.*2401C>T) c.451C>T c.4005C>T (p.Ser1335=) c.415C>T c.3573C>T (p.Ser1191=) c.3969C>T (p.Ser1323=) c.2178C>T (p.Ser726=) c.4620C>T (p.Ser1540=) c.4494C>T (p.Ser1498=) c.4437C>T (p.Ser1479=) c.4164C>T (p.Ser1388=) c.4551C>T (p.Ser1517=) c.4485C>T (p.Ser1495=) c.4425C>T (p.Ser1475=) c.4311C>T (p.Ser1437=) c.4290C>T (p.Ser1430=) c.4155C>T (p.Ser1385=) c.4095C>T (p.Ser1365=) c.4029C>T (p.Ser1343=) c.4026C>T (p.Ser1342=) c.4017C>T (p.Ser1339=) c.3960C>T (p.Ser1320=) c.3843C>T (p.Ser1281=) | |
3 | g.77644727A= | CA1376777926 | ROBO2 | c.4153A= (p.Lys1385=) c.4144A= (p.Lys1382=) c.4039A= (p.Lys1347=) c.4231A= (p.Lys1411=) c.*901A= (n.*901A=) c.4243A= (p.Lys1415=) c.4417A= (p.Lys1473=) c.*2391A= (n.*2391A=) c.4084A= (p.Lys1362=) c.499A= (p.Lys167=) c.4141A= (p.Lys1381=) c.3958A= (p.Lys1320=) n.5946A= c.*2402A= (n.*2402A=) c.452A= c.4006A= (p.Lys1336=) c.416A= c.3574A= (p.Lys1192=) c.3970A= (p.Lys1324=) c.2179A= (p.Lys727=) c.4621A= (p.Lys1541=) c.4495A= (p.Lys1499=) c.4438A= (p.Lys1480=) c.4165A= (p.Lys1389=) c.4552A= (p.Lys1518=) c.4486A= (p.Lys1496=) c.4426A= (p.Lys1476=) c.4312A= (p.Lys1438=) c.4291A= (p.Lys1431=) c.4156A= (p.Lys1386=) c.4096A= (p.Lys1366=) c.4030A= (p.Lys1344=) c.4027A= (p.Lys1343=) c.4018A= (p.Lys1340=) c.3961A= (p.Lys1321=) c.3844A= (p.Lys1282=) | |
3 | g.77644727A>C | CA353533238 | ROBO2 | c.4153A>C (p.Lys1385Gln) c.4144A>C (p.Lys1382Gln) c.4039A>C (p.Lys1347Gln) c.4231A>C (p.Lys1411Gln) c.*901A>C (n.*901A>C) c.4243A>C (p.Lys1415Gln) c.4417A>C (p.Lys1473Gln) c.*2391A>C (n.*2391A>C) c.4084A>C (p.Lys1362Gln) c.499A>C (p.Lys167Gln) c.4141A>C (p.Lys1381Gln) c.3958A>C (p.Lys1320Gln) n.5946A>C c.*2402A>C (n.*2402A>C) c.452A>C c.4006A>C (p.Lys1336Gln) c.416A>C c.3574A>C (p.Lys1192Gln) c.3970A>C (p.Lys1324Gln) c.2179A>C (p.Lys727Gln) c.4621A>C (p.Lys1541Gln) c.4495A>C (p.Lys1499Gln) c.4438A>C (p.Lys1480Gln) c.4165A>C (p.Lys1389Gln) c.4552A>C (p.Lys1518Gln) c.4486A>C (p.Lys1496Gln) c.4426A>C (p.Lys1476Gln) c.4312A>C (p.Lys1438Gln) c.4291A>C (p.Lys1431Gln) c.4156A>C (p.Lys1386Gln) c.4096A>C (p.Lys1366Gln) c.4030A>C (p.Lys1344Gln) c.4027A>C (p.Lys1343Gln) c.4018A>C (p.Lys1340Gln) c.3961A>C (p.Lys1321Gln) c.3844A>C (p.Lys1282Gln) | ClinVar dbSNP |
3 | g.77644727A>G | CA353533241 | ROBO2 | c.4153A>G (p.Lys1385Glu) c.4144A>G (p.Lys1382Glu) c.4039A>G (p.Lys1347Glu) c.4231A>G (p.Lys1411Glu) c.*901A>G (n.*901A>G) c.4243A>G (p.Lys1415Glu) c.4417A>G (p.Lys1473Glu) c.*2391A>G (n.*2391A>G) c.4084A>G (p.Lys1362Glu) c.499A>G (p.Lys167Glu) c.4141A>G (p.Lys1381Glu) c.3958A>G (p.Lys1320Glu) n.5946A>G c.*2402A>G (n.*2402A>G) c.452A>G c.4006A>G (p.Lys1336Glu) c.416A>G c.3574A>G (p.Lys1192Glu) c.3970A>G (p.Lys1324Glu) c.2179A>G (p.Lys727Glu) c.4621A>G (p.Lys1541Glu) c.4495A>G (p.Lys1499Glu) c.4438A>G (p.Lys1480Glu) c.4165A>G (p.Lys1389Glu) c.4552A>G (p.Lys1518Glu) c.4486A>G (p.Lys1496Glu) c.4426A>G (p.Lys1476Glu) c.4312A>G (p.Lys1438Glu) c.4291A>G (p.Lys1431Glu) c.4156A>G (p.Lys1386Glu) c.4096A>G (p.Lys1366Glu) c.4030A>G (p.Lys1344Glu) c.4027A>G (p.Lys1343Glu) c.4018A>G (p.Lys1340Glu) c.3961A>G (p.Lys1321Glu) c.3844A>G (p.Lys1282Glu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77644727A>T | CA353533239 | ROBO2 | c.4153A>T (p.Lys1385Ter) c.4144A>T (p.Lys1382Ter) c.4039A>T (p.Lys1347Ter) c.4231A>T (p.Lys1411Ter) c.*901A>T (n.*901A>T) c.4243A>T (p.Lys1415Ter) c.4417A>T (p.Lys1473Ter) c.*2391A>T (n.*2391A>T) c.4084A>T (p.Lys1362Ter) c.499A>T (p.Lys167Ter) c.4141A>T (p.Lys1381Ter) c.3958A>T (p.Lys1320Ter) n.5946A>T c.*2402A>T (n.*2402A>T) c.452A>T c.4006A>T (p.Lys1336Ter) c.416A>T c.3574A>T (p.Lys1192Ter) c.3970A>T (p.Lys1324Ter) c.2179A>T (p.Lys727Ter) c.4621A>T (p.Lys1541Ter) c.4495A>T (p.Lys1499Ter) c.4438A>T (p.Lys1480Ter) c.4165A>T (p.Lys1389Ter) c.4552A>T (p.Lys1518Ter) c.4486A>T (p.Lys1496Ter) c.4426A>T (p.Lys1476Ter) c.4312A>T (p.Lys1438Ter) c.4291A>T (p.Lys1431Ter) c.4156A>T (p.Lys1386Ter) c.4096A>T (p.Lys1366Ter) c.4030A>T (p.Lys1344Ter) c.4027A>T (p.Lys1343Ter) c.4018A>T (p.Lys1340Ter) c.3961A>T (p.Lys1321Ter) c.3844A>T (p.Lys1282Ter) | |
3 | g.77644728A>C | CA353533243 | ROBO2 | c.4154A>C (p.Lys1385Thr) c.4145A>C (p.Lys1382Thr) c.4040A>C (p.Lys1347Thr) c.4232A>C (p.Lys1411Thr) c.*902A>C (n.*902A>C) c.4244A>C (p.Lys1415Thr) c.4418A>C (p.Lys1473Thr) c.*2392A>C (n.*2392A>C) c.4085A>C (p.Lys1362Thr) c.500A>C (p.Lys167Thr) c.4142A>C (p.Lys1381Thr) c.3959A>C (p.Lys1320Thr) n.5947A>C c.*2403A>C (n.*2403A>C) c.453A>C c.4007A>C (p.Lys1336Thr) c.417A>C c.3575A>C (p.Lys1192Thr) c.3971A>C (p.Lys1324Thr) c.2180A>C (p.Lys727Thr) c.4622A>C (p.Lys1541Thr) c.4496A>C (p.Lys1499Thr) c.4439A>C (p.Lys1480Thr) c.4166A>C (p.Lys1389Thr) c.4553A>C (p.Lys1518Thr) c.4487A>C (p.Lys1496Thr) c.4427A>C (p.Lys1476Thr) c.4313A>C (p.Lys1438Thr) c.4292A>C (p.Lys1431Thr) c.4157A>C (p.Lys1386Thr) c.4097A>C (p.Lys1366Thr) c.4031A>C (p.Lys1344Thr) c.4028A>C (p.Lys1343Thr) c.4019A>C (p.Lys1340Thr) c.3962A>C (p.Lys1321Thr) c.3845A>C (p.Lys1282Thr) | |
3 | g.77644728A>G | CA353533244 | ROBO2 | c.4154A>G (p.Lys1385Arg) c.4145A>G (p.Lys1382Arg) c.4040A>G (p.Lys1347Arg) c.4232A>G (p.Lys1411Arg) c.*902A>G (n.*902A>G) c.4244A>G (p.Lys1415Arg) c.4418A>G (p.Lys1473Arg) c.*2392A>G (n.*2392A>G) c.4085A>G (p.Lys1362Arg) c.500A>G (p.Lys167Arg) c.4142A>G (p.Lys1381Arg) c.3959A>G (p.Lys1320Arg) n.5947A>G c.*2403A>G (n.*2403A>G) c.453A>G c.4007A>G (p.Lys1336Arg) c.417A>G c.3575A>G (p.Lys1192Arg) c.3971A>G (p.Lys1324Arg) c.2180A>G (p.Lys727Arg) c.4622A>G (p.Lys1541Arg) c.4496A>G (p.Lys1499Arg) c.4439A>G (p.Lys1480Arg) c.4166A>G (p.Lys1389Arg) c.4553A>G (p.Lys1518Arg) c.4487A>G (p.Lys1496Arg) c.4427A>G (p.Lys1476Arg) c.4313A>G (p.Lys1438Arg) c.4292A>G (p.Lys1431Arg) c.4157A>G (p.Lys1386Arg) c.4097A>G (p.Lys1366Arg) c.4031A>G (p.Lys1344Arg) c.4028A>G (p.Lys1343Arg) c.4019A>G (p.Lys1340Arg) c.3962A>G (p.Lys1321Arg) c.3845A>G (p.Lys1282Arg) | |
3 | g.77644728A>T | CA353533245 | ROBO2 | c.4154A>T (p.Lys1385Met) c.4145A>T (p.Lys1382Met) c.4040A>T (p.Lys1347Met) c.4232A>T (p.Lys1411Met) c.*902A>T (n.*902A>T) c.4244A>T (p.Lys1415Met) c.4418A>T (p.Lys1473Met) c.*2392A>T (n.*2392A>T) c.4085A>T (p.Lys1362Met) c.500A>T (p.Lys167Met) c.4142A>T (p.Lys1381Met) c.3959A>T (p.Lys1320Met) n.5947A>T c.*2403A>T (n.*2403A>T) c.453A>T c.4007A>T (p.Lys1336Met) c.417A>T c.3575A>T (p.Lys1192Met) c.3971A>T (p.Lys1324Met) c.2180A>T (p.Lys727Met) c.4622A>T (p.Lys1541Met) c.4496A>T (p.Lys1499Met) c.4439A>T (p.Lys1480Met) c.4166A>T (p.Lys1389Met) c.4553A>T (p.Lys1518Met) c.4487A>T (p.Lys1496Met) c.4427A>T (p.Lys1476Met) c.4313A>T (p.Lys1438Met) c.4292A>T (p.Lys1431Met) c.4157A>T (p.Lys1386Met) c.4097A>T (p.Lys1366Met) c.4031A>T (p.Lys1344Met) c.4028A>T (p.Lys1343Met) c.4019A>T (p.Lys1340Met) c.3962A>T (p.Lys1321Met) c.3845A>T (p.Lys1282Met) | |
3 | g.77644729G>A | CA434435237 | ROBO2 | c.4155G>A (p.Lys1385=) c.4146G>A (p.Lys1382=) c.4041G>A (p.Lys1347=) c.4233G>A (p.Lys1411=) c.*903G>A (n.*903G>A) c.4245G>A (p.Lys1415=) c.4419G>A (p.Lys1473=) c.*2393G>A (n.*2393G>A) c.4086G>A (p.Lys1362=) c.501G>A (p.Lys167=) c.4143G>A (p.Lys1381=) c.3960G>A (p.Lys1320=) n.5948G>A c.*2404G>A (n.*2404G>A) c.454G>A c.4008G>A (p.Lys1336=) c.418G>A c.3576G>A (p.Lys1192=) c.3972G>A (p.Lys1324=) c.2181G>A (p.Lys727=) c.4623G>A (p.Lys1541=) c.4497G>A (p.Lys1499=) c.4440G>A (p.Lys1480=) c.4167G>A (p.Lys1389=) c.4554G>A (p.Lys1518=) c.4488G>A (p.Lys1496=) c.4428G>A (p.Lys1476=) c.4314G>A (p.Lys1438=) c.4293G>A (p.Lys1431=) c.4158G>A (p.Lys1386=) c.4098G>A (p.Lys1366=) c.4032G>A (p.Lys1344=) c.4029G>A (p.Lys1343=) c.4020G>A (p.Lys1340=) c.3963G>A (p.Lys1321=) c.3846G>A (p.Lys1282=) | |
3 | g.77644729G>C | CA353533247 | ROBO2 | c.4155G>C (p.Lys1385Asn) c.4146G>C (p.Lys1382Asn) c.4041G>C (p.Lys1347Asn) c.4233G>C (p.Lys1411Asn) c.*903G>C (n.*903G>C) c.4245G>C (p.Lys1415Asn) c.4419G>C (p.Lys1473Asn) c.*2393G>C (n.*2393G>C) c.4086G>C (p.Lys1362Asn) c.501G>C (p.Lys167Asn) c.4143G>C (p.Lys1381Asn) c.3960G>C (p.Lys1320Asn) n.5948G>C c.*2404G>C (n.*2404G>C) c.454G>C c.4008G>C (p.Lys1336Asn) c.418G>C c.3576G>C (p.Lys1192Asn) c.3972G>C (p.Lys1324Asn) c.2181G>C (p.Lys727Asn) c.4623G>C (p.Lys1541Asn) c.4497G>C (p.Lys1499Asn) c.4440G>C (p.Lys1480Asn) c.4167G>C (p.Lys1389Asn) c.4554G>C (p.Lys1518Asn) c.4488G>C (p.Lys1496Asn) c.4428G>C (p.Lys1476Asn) c.4314G>C (p.Lys1438Asn) c.4293G>C (p.Lys1431Asn) c.4158G>C (p.Lys1386Asn) c.4098G>C (p.Lys1366Asn) c.4032G>C (p.Lys1344Asn) c.4029G>C (p.Lys1343Asn) c.4020G>C (p.Lys1340Asn) c.3963G>C (p.Lys1321Asn) c.3846G>C (p.Lys1282Asn) | |
3 | g.77644729G>T | CA353533249 | ROBO2 | c.4155G>T (p.Lys1385Asn) c.4146G>T (p.Lys1382Asn) c.4041G>T (p.Lys1347Asn) c.4233G>T (p.Lys1411Asn) c.*903G>T (n.*903G>T) c.4245G>T (p.Lys1415Asn) c.4419G>T (p.Lys1473Asn) c.*2393G>T (n.*2393G>T) c.4086G>T (p.Lys1362Asn) c.501G>T (p.Lys167Asn) c.4143G>T (p.Lys1381Asn) c.3960G>T (p.Lys1320Asn) n.5948G>T c.*2404G>T (n.*2404G>T) c.454G>T c.4008G>T (p.Lys1336Asn) c.418G>T c.3576G>T (p.Lys1192Asn) c.3972G>T (p.Lys1324Asn) c.2181G>T (p.Lys727Asn) c.4623G>T (p.Lys1541Asn) c.4497G>T (p.Lys1499Asn) c.4440G>T (p.Lys1480Asn) c.4167G>T (p.Lys1389Asn) c.4554G>T (p.Lys1518Asn) c.4488G>T (p.Lys1496Asn) c.4428G>T (p.Lys1476Asn) c.4314G>T (p.Lys1438Asn) c.4293G>T (p.Lys1431Asn) c.4158G>T (p.Lys1386Asn) c.4098G>T (p.Lys1366Asn) c.4032G>T (p.Lys1344Asn) c.4029G>T (p.Lys1343Asn) c.4020G>T (p.Lys1340Asn) c.3963G>T (p.Lys1321Asn) c.3846G>T (p.Lys1282Asn) | |
3 | g.77644730C>A | CA353533250 | ROBO2 | c.4156C>A (p.Pro1386Thr) c.4147C>A (p.Pro1383Thr) c.4042C>A (p.Pro1348Thr) c.4234C>A (p.Pro1412Thr) c.*904C>A (n.*904C>A) c.4246C>A (p.Pro1416Thr) c.4420C>A (p.Pro1474Thr) c.*2394C>A (n.*2394C>A) c.4087C>A (p.Pro1363Thr) c.502C>A (p.Pro168Thr) c.4144C>A (p.Pro1382Thr) c.3961C>A (p.Pro1321Thr) n.5949C>A c.*2405C>A (n.*2405C>A) c.455C>A c.4009C>A (p.Pro1337Thr) c.419C>A c.3577C>A (p.Pro1193Thr) c.3973C>A (p.Pro1325Thr) c.2182C>A (p.Pro728Thr) c.4624C>A (p.Pro1542Thr) c.4498C>A (p.Pro1500Thr) c.4441C>A (p.Pro1481Thr) c.4168C>A (p.Pro1390Thr) c.4555C>A (p.Pro1519Thr) c.4489C>A (p.Pro1497Thr) c.4429C>A (p.Pro1477Thr) c.4315C>A (p.Pro1439Thr) c.4294C>A (p.Pro1432Thr) c.4159C>A (p.Pro1387Thr) c.4099C>A (p.Pro1367Thr) c.4033C>A (p.Pro1345Thr) c.4030C>A (p.Pro1344Thr) c.4021C>A (p.Pro1341Thr) c.3964C>A (p.Pro1322Thr) c.3847C>A (p.Pro1283Thr) | |
3 | g.77644730C>G | CA353533251 | ROBO2 | c.4156C>G (p.Pro1386Ala) c.4147C>G (p.Pro1383Ala) c.4042C>G (p.Pro1348Ala) c.4234C>G (p.Pro1412Ala) c.*904C>G (n.*904C>G) c.4246C>G (p.Pro1416Ala) c.4420C>G (p.Pro1474Ala) c.*2394C>G (n.*2394C>G) c.4087C>G (p.Pro1363Ala) c.502C>G (p.Pro168Ala) c.4144C>G (p.Pro1382Ala) c.3961C>G (p.Pro1321Ala) n.5949C>G c.*2405C>G (n.*2405C>G) c.455C>G c.4009C>G (p.Pro1337Ala) c.419C>G c.3577C>G (p.Pro1193Ala) c.3973C>G (p.Pro1325Ala) c.2182C>G (p.Pro728Ala) c.4624C>G (p.Pro1542Ala) c.4498C>G (p.Pro1500Ala) c.4441C>G (p.Pro1481Ala) c.4168C>G (p.Pro1390Ala) c.4555C>G (p.Pro1519Ala) c.4489C>G (p.Pro1497Ala) c.4429C>G (p.Pro1477Ala) c.4315C>G (p.Pro1439Ala) c.4294C>G (p.Pro1432Ala) c.4159C>G (p.Pro1387Ala) c.4099C>G (p.Pro1367Ala) c.4033C>G (p.Pro1345Ala) c.4030C>G (p.Pro1344Ala) c.4021C>G (p.Pro1341Ala) c.3964C>G (p.Pro1322Ala) c.3847C>G (p.Pro1283Ala) | |
3 | g.77644730C>T | CA353533252 | ROBO2 | c.4156C>T (p.Pro1386Ser) c.4147C>T (p.Pro1383Ser) c.4042C>T (p.Pro1348Ser) c.4234C>T (p.Pro1412Ser) c.*904C>T (n.*904C>T) c.4246C>T (p.Pro1416Ser) c.4420C>T (p.Pro1474Ser) c.*2394C>T (n.*2394C>T) c.4087C>T (p.Pro1363Ser) c.502C>T (p.Pro168Ser) c.4144C>T (p.Pro1382Ser) c.3961C>T (p.Pro1321Ser) n.5949C>T c.*2405C>T (n.*2405C>T) c.455C>T c.4009C>T (p.Pro1337Ser) c.419C>T c.3577C>T (p.Pro1193Ser) c.3973C>T (p.Pro1325Ser) c.2182C>T (p.Pro728Ser) c.4624C>T (p.Pro1542Ser) c.4498C>T (p.Pro1500Ser) c.4441C>T (p.Pro1481Ser) c.4168C>T (p.Pro1390Ser) c.4555C>T (p.Pro1519Ser) c.4489C>T (p.Pro1497Ser) c.4429C>T (p.Pro1477Ser) c.4315C>T (p.Pro1439Ser) c.4294C>T (p.Pro1432Ser) c.4159C>T (p.Pro1387Ser) c.4099C>T (p.Pro1367Ser) c.4033C>T (p.Pro1345Ser) c.4030C>T (p.Pro1344Ser) c.4021C>T (p.Pro1341Ser) c.3964C>T (p.Pro1322Ser) c.3847C>T (p.Pro1283Ser) | gnomAD v4 |
3 | g.77644731C>A | CA353533255 | ROBO2 | c.4157C>A (p.Pro1386His) c.4148C>A (p.Pro1383His) c.4043C>A (p.Pro1348His) c.4235C>A (p.Pro1412His) c.*905C>A (n.*905C>A) c.4247C>A (p.Pro1416His) c.4421C>A (p.Pro1474His) c.*2395C>A (n.*2395C>A) c.4088C>A (p.Pro1363His) c.503C>A (p.Pro168His) c.4145C>A (p.Pro1382His) c.3962C>A (p.Pro1321His) n.5950C>A c.*2406C>A (n.*2406C>A) c.456C>A c.4010C>A (p.Pro1337His) c.420C>A c.3578C>A (p.Pro1193His) c.3974C>A (p.Pro1325His) c.2183C>A (p.Pro728His) c.4625C>A (p.Pro1542His) c.4499C>A (p.Pro1500His) c.4442C>A (p.Pro1481His) c.4169C>A (p.Pro1390His) c.4556C>A (p.Pro1519His) c.4490C>A (p.Pro1497His) c.4430C>A (p.Pro1477His) c.4316C>A (p.Pro1439His) c.4295C>A (p.Pro1432His) c.4160C>A (p.Pro1387His) c.4100C>A (p.Pro1367His) c.4034C>A (p.Pro1345His) c.4031C>A (p.Pro1344His) c.4022C>A (p.Pro1341His) c.3965C>A (p.Pro1322His) c.3848C>A (p.Pro1283His) | |
3 | g.77644731C= | CA1376777927 | ROBO2 | c.4157C= (p.Pro1386=) c.4148C= (p.Pro1383=) c.4043C= (p.Pro1348=) c.4235C= (p.Pro1412=) c.*905C= (n.*905C=) c.4247C= (p.Pro1416=) c.4421C= (p.Pro1474=) c.*2395C= (n.*2395C=) c.4088C= (p.Pro1363=) c.503C= (p.Pro168=) c.4145C= (p.Pro1382=) c.3962C= (p.Pro1321=) n.5950C= c.*2406C= (n.*2406C=) c.456C= c.4010C= (p.Pro1337=) c.420C= c.3578C= (p.Pro1193=) c.3974C= (p.Pro1325=) c.2183C= (p.Pro728=) c.4625C= (p.Pro1542=) c.4499C= (p.Pro1500=) c.4442C= (p.Pro1481=) c.4169C= (p.Pro1390=) c.4556C= (p.Pro1519=) c.4490C= (p.Pro1497=) c.4430C= (p.Pro1477=) c.4316C= (p.Pro1439=) c.4295C= (p.Pro1432=) c.4160C= (p.Pro1387=) c.4100C= (p.Pro1367=) c.4034C= (p.Pro1345=) c.4031C= (p.Pro1344=) c.4022C= (p.Pro1341=) c.3965C= (p.Pro1322=) c.3848C= (p.Pro1283=) | |
3 | g.77644731C>G | CA353533256 | ROBO2 | c.4157C>G (p.Pro1386Arg) c.4148C>G (p.Pro1383Arg) c.4043C>G (p.Pro1348Arg) c.4235C>G (p.Pro1412Arg) c.*905C>G (n.*905C>G) c.4247C>G (p.Pro1416Arg) c.4421C>G (p.Pro1474Arg) c.*2395C>G (n.*2395C>G) c.4088C>G (p.Pro1363Arg) c.503C>G (p.Pro168Arg) c.4145C>G (p.Pro1382Arg) c.3962C>G (p.Pro1321Arg) n.5950C>G c.*2406C>G (n.*2406C>G) c.456C>G c.4010C>G (p.Pro1337Arg) c.420C>G c.3578C>G (p.Pro1193Arg) c.3974C>G (p.Pro1325Arg) c.2183C>G (p.Pro728Arg) c.4625C>G (p.Pro1542Arg) c.4499C>G (p.Pro1500Arg) c.4442C>G (p.Pro1481Arg) c.4169C>G (p.Pro1390Arg) c.4556C>G (p.Pro1519Arg) c.4490C>G (p.Pro1497Arg) c.4430C>G (p.Pro1477Arg) c.4316C>G (p.Pro1439Arg) c.4295C>G (p.Pro1432Arg) c.4160C>G (p.Pro1387Arg) c.4100C>G (p.Pro1367Arg) c.4034C>G (p.Pro1345Arg) c.4031C>G (p.Pro1344Arg) c.4022C>G (p.Pro1341Arg) c.3965C>G (p.Pro1322Arg) c.3848C>G (p.Pro1283Arg) | |
3 | g.77644731C>T | CA77532925 | ROBO2 | c.4157C>T (p.Pro1386Leu) c.4148C>T (p.Pro1383Leu) c.4043C>T (p.Pro1348Leu) c.4235C>T (p.Pro1412Leu) c.*905C>T (n.*905C>T) c.4247C>T (p.Pro1416Leu) c.4421C>T (p.Pro1474Leu) c.*2395C>T (n.*2395C>T) c.4088C>T (p.Pro1363Leu) c.503C>T (p.Pro168Leu) c.4145C>T (p.Pro1382Leu) c.3962C>T (p.Pro1321Leu) n.5950C>T c.*2406C>T (n.*2406C>T) c.456C>T c.4010C>T (p.Pro1337Leu) c.420C>T c.3578C>T (p.Pro1193Leu) c.3974C>T (p.Pro1325Leu) c.2183C>T (p.Pro728Leu) c.4625C>T (p.Pro1542Leu) c.4499C>T (p.Pro1500Leu) c.4442C>T (p.Pro1481Leu) c.4169C>T (p.Pro1390Leu) c.4556C>T (p.Pro1519Leu) c.4490C>T (p.Pro1497Leu) c.4430C>T (p.Pro1477Leu) c.4316C>T (p.Pro1439Leu) c.4295C>T (p.Pro1432Leu) c.4160C>T (p.Pro1387Leu) c.4100C>T (p.Pro1367Leu) c.4034C>T (p.Pro1345Leu) c.4031C>T (p.Pro1344Leu) c.4022C>T (p.Pro1341Leu) c.3965C>T (p.Pro1322Leu) c.3848C>T (p.Pro1283Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644732C>A | CA434435238 | ROBO2 | c.4158C>A (p.Pro1386=) c.4149C>A (p.Pro1383=) c.4044C>A (p.Pro1348=) c.4236C>A (p.Pro1412=) c.*906C>A (n.*906C>A) c.4248C>A (p.Pro1416=) c.4422C>A (p.Pro1474=) c.*2396C>A (n.*2396C>A) c.4089C>A (p.Pro1363=) c.504C>A (p.Pro168=) c.4146C>A (p.Pro1382=) c.3963C>A (p.Pro1321=) n.5951C>A c.*2407C>A (n.*2407C>A) c.457C>A c.4011C>A (p.Pro1337=) c.421C>A c.3579C>A (p.Pro1193=) c.3975C>A (p.Pro1325=) c.2184C>A (p.Pro728=) c.4626C>A (p.Pro1542=) c.4500C>A (p.Pro1500=) c.4443C>A (p.Pro1481=) c.4170C>A (p.Pro1390=) c.4557C>A (p.Pro1519=) c.4491C>A (p.Pro1497=) c.4431C>A (p.Pro1477=) c.4317C>A (p.Pro1439=) c.4296C>A (p.Pro1432=) c.4161C>A (p.Pro1387=) c.4101C>A (p.Pro1367=) c.4035C>A (p.Pro1345=) c.4032C>A (p.Pro1344=) c.4023C>A (p.Pro1341=) c.3966C>A (p.Pro1322=) c.3849C>A (p.Pro1283=) | |
3 | g.77644732C= | CA1376777928 | ROBO2 | c.4158C= (p.Pro1386=) c.4149C= (p.Pro1383=) c.4044C= (p.Pro1348=) c.4236C= (p.Pro1412=) c.*906C= (n.*906C=) c.4248C= (p.Pro1416=) c.4422C= (p.Pro1474=) c.*2396C= (n.*2396C=) c.4089C= (p.Pro1363=) c.504C= (p.Pro168=) c.4146C= (p.Pro1382=) c.3963C= (p.Pro1321=) n.5951C= c.*2407C= (n.*2407C=) c.457C= c.4011C= (p.Pro1337=) c.421C= c.3579C= (p.Pro1193=) c.3975C= (p.Pro1325=) c.2184C= (p.Pro728=) c.4626C= (p.Pro1542=) c.4500C= (p.Pro1500=) c.4443C= (p.Pro1481=) c.4170C= (p.Pro1390=) c.4557C= (p.Pro1519=) c.4491C= (p.Pro1497=) c.4431C= (p.Pro1477=) c.4317C= (p.Pro1439=) c.4296C= (p.Pro1432=) c.4161C= (p.Pro1387=) c.4101C= (p.Pro1367=) c.4035C= (p.Pro1345=) c.4032C= (p.Pro1344=) c.4023C= (p.Pro1341=) c.3966C= (p.Pro1322=) c.3849C= (p.Pro1283=) | |
3 | g.77644732C>G | CA434435239 | ROBO2 | c.4158C>G (p.Pro1386=) c.4149C>G (p.Pro1383=) c.4044C>G (p.Pro1348=) c.4236C>G (p.Pro1412=) c.*906C>G (n.*906C>G) c.4248C>G (p.Pro1416=) c.4422C>G (p.Pro1474=) c.*2396C>G (n.*2396C>G) c.4089C>G (p.Pro1363=) c.504C>G (p.Pro168=) c.4146C>G (p.Pro1382=) c.3963C>G (p.Pro1321=) n.5951C>G c.*2407C>G (n.*2407C>G) c.457C>G c.4011C>G (p.Pro1337=) c.421C>G c.3579C>G (p.Pro1193=) c.3975C>G (p.Pro1325=) c.2184C>G (p.Pro728=) c.4626C>G (p.Pro1542=) c.4500C>G (p.Pro1500=) c.4443C>G (p.Pro1481=) c.4170C>G (p.Pro1390=) c.4557C>G (p.Pro1519=) c.4491C>G (p.Pro1497=) c.4431C>G (p.Pro1477=) c.4317C>G (p.Pro1439=) c.4296C>G (p.Pro1432=) c.4161C>G (p.Pro1387=) c.4101C>G (p.Pro1367=) c.4035C>G (p.Pro1345=) c.4032C>G (p.Pro1344=) c.4023C>G (p.Pro1341=) c.3966C>G (p.Pro1322=) c.3849C>G (p.Pro1283=) | |
3 | g.77644732C>T | CA2497821 | ROBO2 | c.4158C>T (p.Pro1386=) c.4149C>T (p.Pro1383=) c.4044C>T (p.Pro1348=) c.4236C>T (p.Pro1412=) c.*906C>T (n.*906C>T) c.4248C>T (p.Pro1416=) c.4422C>T (p.Pro1474=) c.*2396C>T (n.*2396C>T) c.4089C>T (p.Pro1363=) c.504C>T (p.Pro168=) c.4146C>T (p.Pro1382=) c.3963C>T (p.Pro1321=) n.5951C>T c.*2407C>T (n.*2407C>T) c.457C>T c.4011C>T (p.Pro1337=) c.421C>T c.3579C>T (p.Pro1193=) c.3975C>T (p.Pro1325=) c.2184C>T (p.Pro728=) c.4626C>T (p.Pro1542=) c.4500C>T (p.Pro1500=) c.4443C>T (p.Pro1481=) c.4170C>T (p.Pro1390=) c.4557C>T (p.Pro1519=) c.4491C>T (p.Pro1497=) c.4431C>T (p.Pro1477=) c.4317C>T (p.Pro1439=) c.4296C>T (p.Pro1432=) c.4161C>T (p.Pro1387=) c.4101C>T (p.Pro1367=) c.4035C>T (p.Pro1345=) c.4032C>T (p.Pro1344=) c.4023C>T (p.Pro1341=) c.3966C>T (p.Pro1322=) c.3849C>T (p.Pro1283=) | dbSNP ExAC gnomAD v2 |
3 | g.77644733A>C | CA353533264 | ROBO2 | c.4159A>C (p.Ser1387Arg) c.4150A>C (p.Ser1384Arg) c.4045A>C (p.Ser1349Arg) c.4237A>C (p.Ser1413Arg) c.*907A>C (n.*907A>C) c.4249A>C (p.Ser1417Arg) c.4423A>C (p.Ser1475Arg) c.*2397A>C (n.*2397A>C) c.4090A>C (p.Ser1364Arg) c.505A>C (p.Ser169Arg) c.4147A>C (p.Ser1383Arg) c.3964A>C (p.Ser1322Arg) n.5952A>C c.*2408A>C (n.*2408A>C) c.458A>C c.4012A>C (p.Ser1338Arg) c.422A>C c.3580A>C (p.Ser1194Arg) c.3976A>C (p.Ser1326Arg) c.2185A>C (p.Ser729Arg) c.4627A>C (p.Ser1543Arg) c.4501A>C (p.Ser1501Arg) c.4444A>C (p.Ser1482Arg) c.4171A>C (p.Ser1391Arg) c.4558A>C (p.Ser1520Arg) c.4492A>C (p.Ser1498Arg) c.4432A>C (p.Ser1478Arg) c.4318A>C (p.Ser1440Arg) c.4297A>C (p.Ser1433Arg) c.4162A>C (p.Ser1388Arg) c.4102A>C (p.Ser1368Arg) c.4036A>C (p.Ser1346Arg) c.4033A>C (p.Ser1345Arg) c.4024A>C (p.Ser1342Arg) c.3967A>C (p.Ser1323Arg) c.3850A>C (p.Ser1284Arg) | |
3 | g.77644733A>G | CA353533261 | ROBO2 | c.4159A>G (p.Ser1387Gly) c.4150A>G (p.Ser1384Gly) c.4045A>G (p.Ser1349Gly) c.4237A>G (p.Ser1413Gly) c.*907A>G (n.*907A>G) c.4249A>G (p.Ser1417Gly) c.4423A>G (p.Ser1475Gly) c.*2397A>G (n.*2397A>G) c.4090A>G (p.Ser1364Gly) c.505A>G (p.Ser169Gly) c.4147A>G (p.Ser1383Gly) c.3964A>G (p.Ser1322Gly) n.5952A>G c.*2408A>G (n.*2408A>G) c.458A>G c.4012A>G (p.Ser1338Gly) c.422A>G c.3580A>G (p.Ser1194Gly) c.3976A>G (p.Ser1326Gly) c.2185A>G (p.Ser729Gly) c.4627A>G (p.Ser1543Gly) c.4501A>G (p.Ser1501Gly) c.4444A>G (p.Ser1482Gly) c.4171A>G (p.Ser1391Gly) c.4558A>G (p.Ser1520Gly) c.4492A>G (p.Ser1498Gly) c.4432A>G (p.Ser1478Gly) c.4318A>G (p.Ser1440Gly) c.4297A>G (p.Ser1433Gly) c.4162A>G (p.Ser1388Gly) c.4102A>G (p.Ser1368Gly) c.4036A>G (p.Ser1346Gly) c.4033A>G (p.Ser1345Gly) c.4024A>G (p.Ser1342Gly) c.3967A>G (p.Ser1323Gly) c.3850A>G (p.Ser1284Gly) | |
3 | g.77644733A>T | CA353533262 | ROBO2 | c.4159A>T (p.Ser1387Cys) c.4150A>T (p.Ser1384Cys) c.4045A>T (p.Ser1349Cys) c.4237A>T (p.Ser1413Cys) c.*907A>T (n.*907A>T) c.4249A>T (p.Ser1417Cys) c.4423A>T (p.Ser1475Cys) c.*2397A>T (n.*2397A>T) c.4090A>T (p.Ser1364Cys) c.505A>T (p.Ser169Cys) c.4147A>T (p.Ser1383Cys) c.3964A>T (p.Ser1322Cys) n.5952A>T c.*2408A>T (n.*2408A>T) c.458A>T c.4012A>T (p.Ser1338Cys) c.422A>T c.3580A>T (p.Ser1194Cys) c.3976A>T (p.Ser1326Cys) c.2185A>T (p.Ser729Cys) c.4627A>T (p.Ser1543Cys) c.4501A>T (p.Ser1501Cys) c.4444A>T (p.Ser1482Cys) c.4171A>T (p.Ser1391Cys) c.4558A>T (p.Ser1520Cys) c.4492A>T (p.Ser1498Cys) c.4432A>T (p.Ser1478Cys) c.4318A>T (p.Ser1440Cys) c.4297A>T (p.Ser1433Cys) c.4162A>T (p.Ser1388Cys) c.4102A>T (p.Ser1368Cys) c.4036A>T (p.Ser1346Cys) c.4033A>T (p.Ser1345Cys) c.4024A>T (p.Ser1342Cys) c.3967A>T (p.Ser1323Cys) c.3850A>T (p.Ser1284Cys) | |
3 | g.77644734G>A | CA353533266 | ROBO2 | c.4160G>A (p.Ser1387Asn) c.4151G>A (p.Ser1384Asn) c.4046G>A (p.Ser1349Asn) c.4238G>A (p.Ser1413Asn) c.*908G>A (n.*908G>A) c.4250G>A (p.Ser1417Asn) c.4424G>A (p.Ser1475Asn) c.*2398G>A (n.*2398G>A) c.4091G>A (p.Ser1364Asn) c.506G>A (p.Ser169Asn) c.4148G>A (p.Ser1383Asn) c.3965G>A (p.Ser1322Asn) n.5953G>A c.*2409G>A (n.*2409G>A) c.459G>A c.4013G>A (p.Ser1338Asn) c.423G>A c.3581G>A (p.Ser1194Asn) c.3977G>A (p.Ser1326Asn) c.2186G>A (p.Ser729Asn) c.4628G>A (p.Ser1543Asn) c.4502G>A (p.Ser1501Asn) c.4445G>A (p.Ser1482Asn) c.4172G>A (p.Ser1391Asn) c.4559G>A (p.Ser1520Asn) c.4493G>A (p.Ser1498Asn) c.4433G>A (p.Ser1478Asn) c.4319G>A (p.Ser1440Asn) c.4298G>A (p.Ser1433Asn) c.4163G>A (p.Ser1388Asn) c.4103G>A (p.Ser1368Asn) c.4037G>A (p.Ser1346Asn) c.4034G>A (p.Ser1345Asn) c.4025G>A (p.Ser1342Asn) c.3968G>A (p.Ser1323Asn) c.3851G>A (p.Ser1284Asn) | dbSNP gnomAD v4 |
3 | g.77644734G>C | CA353533267 | ROBO2 | c.4160G>C (p.Ser1387Thr) c.4151G>C (p.Ser1384Thr) c.4046G>C (p.Ser1349Thr) c.4238G>C (p.Ser1413Thr) c.*908G>C (n.*908G>C) c.4250G>C (p.Ser1417Thr) c.4424G>C (p.Ser1475Thr) c.*2398G>C (n.*2398G>C) c.4091G>C (p.Ser1364Thr) c.506G>C (p.Ser169Thr) c.4148G>C (p.Ser1383Thr) c.3965G>C (p.Ser1322Thr) n.5953G>C c.*2409G>C (n.*2409G>C) c.459G>C c.4013G>C (p.Ser1338Thr) c.423G>C c.3581G>C (p.Ser1194Thr) c.3977G>C (p.Ser1326Thr) c.2186G>C (p.Ser729Thr) c.4628G>C (p.Ser1543Thr) c.4502G>C (p.Ser1501Thr) c.4445G>C (p.Ser1482Thr) c.4172G>C (p.Ser1391Thr) c.4559G>C (p.Ser1520Thr) c.4493G>C (p.Ser1498Thr) c.4433G>C (p.Ser1478Thr) c.4319G>C (p.Ser1440Thr) c.4298G>C (p.Ser1433Thr) c.4163G>C (p.Ser1388Thr) c.4103G>C (p.Ser1368Thr) c.4037G>C (p.Ser1346Thr) c.4034G>C (p.Ser1345Thr) c.4025G>C (p.Ser1342Thr) c.3968G>C (p.Ser1323Thr) c.3851G>C (p.Ser1284Thr) | |
3 | g.77644734G= | CA1376777929 | ROBO2 | c.4160G= (p.Ser1387=) c.4151G= (p.Ser1384=) c.4046G= (p.Ser1349=) c.4238G= (p.Ser1413=) c.*908G= (n.*908G=) c.4250G= (p.Ser1417=) c.4424G= (p.Ser1475=) c.*2398G= (n.*2398G=) c.4091G= (p.Ser1364=) c.506G= (p.Ser169=) c.4148G= (p.Ser1383=) c.3965G= (p.Ser1322=) n.5953G= c.*2409G= (n.*2409G=) c.459G= c.4013G= (p.Ser1338=) c.423G= c.3581G= (p.Ser1194=) c.3977G= (p.Ser1326=) c.2186G= (p.Ser729=) c.4628G= (p.Ser1543=) c.4502G= (p.Ser1501=) c.4445G= (p.Ser1482=) c.4172G= (p.Ser1391=) c.4559G= (p.Ser1520=) c.4493G= (p.Ser1498=) c.4433G= (p.Ser1478=) c.4319G= (p.Ser1440=) c.4298G= (p.Ser1433=) c.4163G= (p.Ser1388=) c.4103G= (p.Ser1368=) c.4037G= (p.Ser1346=) c.4034G= (p.Ser1345=) c.4025G= (p.Ser1342=) c.3968G= (p.Ser1323=) c.3851G= (p.Ser1284=) | |
3 | g.77644734G>T | CA353533268 | ROBO2 | c.4160G>T (p.Ser1387Ile) c.4151G>T (p.Ser1384Ile) c.4046G>T (p.Ser1349Ile) c.4238G>T (p.Ser1413Ile) c.*908G>T (n.*908G>T) c.4250G>T (p.Ser1417Ile) c.4424G>T (p.Ser1475Ile) c.*2398G>T (n.*2398G>T) c.4091G>T (p.Ser1364Ile) c.506G>T (p.Ser169Ile) c.4148G>T (p.Ser1383Ile) c.3965G>T (p.Ser1322Ile) n.5953G>T c.*2409G>T (n.*2409G>T) c.459G>T c.4013G>T (p.Ser1338Ile) c.423G>T c.3581G>T (p.Ser1194Ile) c.3977G>T (p.Ser1326Ile) c.2186G>T (p.Ser729Ile) c.4628G>T (p.Ser1543Ile) c.4502G>T (p.Ser1501Ile) c.4445G>T (p.Ser1482Ile) c.4172G>T (p.Ser1391Ile) c.4559G>T (p.Ser1520Ile) c.4493G>T (p.Ser1498Ile) c.4433G>T (p.Ser1478Ile) c.4319G>T (p.Ser1440Ile) c.4298G>T (p.Ser1433Ile) c.4163G>T (p.Ser1388Ile) c.4103G>T (p.Ser1368Ile) c.4037G>T (p.Ser1346Ile) c.4034G>T (p.Ser1345Ile) c.4025G>T (p.Ser1342Ile) c.3968G>T (p.Ser1323Ile) c.3851G>T (p.Ser1284Ile) | |
3 | g.77644735T>A | CA353533270 | ROBO2 | c.4161T>A (p.Ser1387Arg) c.4152T>A (p.Ser1384Arg) c.4047T>A (p.Ser1349Arg) c.4239T>A (p.Ser1413Arg) c.*909T>A (n.*909T>A) c.4251T>A (p.Ser1417Arg) c.4425T>A (p.Ser1475Arg) c.*2399T>A (n.*2399T>A) c.4092T>A (p.Ser1364Arg) c.507T>A (p.Ser169Arg) c.4149T>A (p.Ser1383Arg) c.3966T>A (p.Ser1322Arg) n.5954T>A c.*2410T>A (n.*2410T>A) c.460T>A c.4014T>A (p.Ser1338Arg) c.424T>A c.3582T>A (p.Ser1194Arg) c.3978T>A (p.Ser1326Arg) c.2187T>A (p.Ser729Arg) c.4629T>A (p.Ser1543Arg) c.4503T>A (p.Ser1501Arg) c.4446T>A (p.Ser1482Arg) c.4173T>A (p.Ser1391Arg) c.4560T>A (p.Ser1520Arg) c.4494T>A (p.Ser1498Arg) c.4434T>A (p.Ser1478Arg) c.4320T>A (p.Ser1440Arg) c.4299T>A (p.Ser1433Arg) c.4164T>A (p.Ser1388Arg) c.4104T>A (p.Ser1368Arg) c.4038T>A (p.Ser1346Arg) c.4035T>A (p.Ser1345Arg) c.4026T>A (p.Ser1342Arg) c.3969T>A (p.Ser1323Arg) c.3852T>A (p.Ser1284Arg) | COSMIC COSMIC |
3 | g.77644735T>C | CA434435240 | ROBO2 | c.4161T>C (p.Ser1387=) c.4152T>C (p.Ser1384=) c.4047T>C (p.Ser1349=) c.4239T>C (p.Ser1413=) c.*909T>C (n.*909T>C) c.4251T>C (p.Ser1417=) c.4425T>C (p.Ser1475=) c.*2399T>C (n.*2399T>C) c.4092T>C (p.Ser1364=) c.507T>C (p.Ser169=) c.4149T>C (p.Ser1383=) c.3966T>C (p.Ser1322=) n.5954T>C c.*2410T>C (n.*2410T>C) c.460T>C c.4014T>C (p.Ser1338=) c.424T>C c.3582T>C (p.Ser1194=) c.3978T>C (p.Ser1326=) c.2187T>C (p.Ser729=) c.4629T>C (p.Ser1543=) c.4503T>C (p.Ser1501=) c.4446T>C (p.Ser1482=) c.4173T>C (p.Ser1391=) c.4560T>C (p.Ser1520=) c.4494T>C (p.Ser1498=) c.4434T>C (p.Ser1478=) c.4320T>C (p.Ser1440=) c.4299T>C (p.Ser1433=) c.4164T>C (p.Ser1388=) c.4104T>C (p.Ser1368=) c.4038T>C (p.Ser1346=) c.4035T>C (p.Ser1345=) c.4026T>C (p.Ser1342=) c.3969T>C (p.Ser1323=) c.3852T>C (p.Ser1284=) | gnomAD v4 |
3 | g.77644735T>G | CA353533279 | ROBO2 | c.4161T>G (p.Ser1387Arg) c.4152T>G (p.Ser1384Arg) c.4047T>G (p.Ser1349Arg) c.4239T>G (p.Ser1413Arg) c.*909T>G (n.*909T>G) c.4251T>G (p.Ser1417Arg) c.4425T>G (p.Ser1475Arg) c.*2399T>G (n.*2399T>G) c.4092T>G (p.Ser1364Arg) c.507T>G (p.Ser169Arg) c.4149T>G (p.Ser1383Arg) c.3966T>G (p.Ser1322Arg) n.5954T>G c.*2410T>G (n.*2410T>G) c.460T>G c.4014T>G (p.Ser1338Arg) c.424T>G c.3582T>G (p.Ser1194Arg) c.3978T>G (p.Ser1326Arg) c.2187T>G (p.Ser729Arg) c.4629T>G (p.Ser1543Arg) c.4503T>G (p.Ser1501Arg) c.4446T>G (p.Ser1482Arg) c.4173T>G (p.Ser1391Arg) c.4560T>G (p.Ser1520Arg) c.4494T>G (p.Ser1498Arg) c.4434T>G (p.Ser1478Arg) c.4320T>G (p.Ser1440Arg) c.4299T>G (p.Ser1433Arg) c.4164T>G (p.Ser1388Arg) c.4104T>G (p.Ser1368Arg) c.4038T>G (p.Ser1346Arg) c.4035T>G (p.Ser1345Arg) c.4026T>G (p.Ser1342Arg) c.3969T>G (p.Ser1323Arg) c.3852T>G (p.Ser1284Arg) | COSMIC COSMIC |
3 | g.77644736T>A | CA353533286 | ROBO2 | c.4162T>A (p.Phe1388Ile) c.4153T>A (p.Phe1385Ile) c.4048T>A (p.Phe1350Ile) c.4240T>A (p.Phe1414Ile) c.*910T>A (n.*910T>A) c.4252T>A (p.Phe1418Ile) c.4426T>A (p.Phe1476Ile) c.*2400T>A (n.*2400T>A) c.4093T>A (p.Phe1365Ile) c.508T>A (p.Phe170Ile) c.4150T>A (p.Phe1384Ile) c.3967T>A (p.Phe1323Ile) n.5955T>A c.*2411T>A (n.*2411T>A) c.461T>A c.4015T>A (p.Phe1339Ile) c.425T>A c.3583T>A (p.Phe1195Ile) c.3979T>A (p.Phe1327Ile) c.2188T>A (p.Phe730Ile) c.4630T>A (p.Phe1544Ile) c.4504T>A (p.Phe1502Ile) c.4447T>A (p.Phe1483Ile) c.4174T>A (p.Phe1392Ile) c.4561T>A (p.Phe1521Ile) c.4495T>A (p.Phe1499Ile) c.4435T>A (p.Phe1479Ile) c.4321T>A (p.Phe1441Ile) c.4300T>A (p.Phe1434Ile) c.4165T>A (p.Phe1389Ile) c.4105T>A (p.Phe1369Ile) c.4039T>A (p.Phe1347Ile) c.4036T>A (p.Phe1346Ile) c.4027T>A (p.Phe1343Ile) c.3970T>A (p.Phe1324Ile) c.3853T>A (p.Phe1285Ile) | |
3 | g.77644736T>C | CA353533284 | ROBO2 | c.4162T>C (p.Phe1388Leu) c.4153T>C (p.Phe1385Leu) c.4048T>C (p.Phe1350Leu) c.4240T>C (p.Phe1414Leu) c.*910T>C (n.*910T>C) c.4252T>C (p.Phe1418Leu) c.4426T>C (p.Phe1476Leu) c.*2400T>C (n.*2400T>C) c.4093T>C (p.Phe1365Leu) c.508T>C (p.Phe170Leu) c.4150T>C (p.Phe1384Leu) c.3967T>C (p.Phe1323Leu) n.5955T>C c.*2411T>C (n.*2411T>C) c.461T>C c.4015T>C (p.Phe1339Leu) c.425T>C c.3583T>C (p.Phe1195Leu) c.3979T>C (p.Phe1327Leu) c.2188T>C (p.Phe730Leu) c.4630T>C (p.Phe1544Leu) c.4504T>C (p.Phe1502Leu) c.4447T>C (p.Phe1483Leu) c.4174T>C (p.Phe1392Leu) c.4561T>C (p.Phe1521Leu) c.4495T>C (p.Phe1499Leu) c.4435T>C (p.Phe1479Leu) c.4321T>C (p.Phe1441Leu) c.4300T>C (p.Phe1434Leu) c.4165T>C (p.Phe1389Leu) c.4105T>C (p.Phe1369Leu) c.4039T>C (p.Phe1347Leu) c.4036T>C (p.Phe1346Leu) c.4027T>C (p.Phe1343Leu) c.3970T>C (p.Phe1324Leu) c.3853T>C (p.Phe1285Leu) | |
3 | g.77644736T>G | CA353533281 | ROBO2 | c.4162T>G (p.Phe1388Val) c.4153T>G (p.Phe1385Val) c.4048T>G (p.Phe1350Val) c.4240T>G (p.Phe1414Val) c.*910T>G (n.*910T>G) c.4252T>G (p.Phe1418Val) c.4426T>G (p.Phe1476Val) c.*2400T>G (n.*2400T>G) c.4093T>G (p.Phe1365Val) c.508T>G (p.Phe170Val) c.4150T>G (p.Phe1384Val) c.3967T>G (p.Phe1323Val) n.5955T>G c.*2411T>G (n.*2411T>G) c.461T>G c.4015T>G (p.Phe1339Val) c.425T>G c.3583T>G (p.Phe1195Val) c.3979T>G (p.Phe1327Val) c.2188T>G (p.Phe730Val) c.4630T>G (p.Phe1544Val) c.4504T>G (p.Phe1502Val) c.4447T>G (p.Phe1483Val) c.4174T>G (p.Phe1392Val) c.4561T>G (p.Phe1521Val) c.4495T>G (p.Phe1499Val) c.4435T>G (p.Phe1479Val) c.4321T>G (p.Phe1441Val) c.4300T>G (p.Phe1434Val) c.4165T>G (p.Phe1389Val) c.4105T>G (p.Phe1369Val) c.4039T>G (p.Phe1347Val) c.4036T>G (p.Phe1346Val) c.4027T>G (p.Phe1343Val) c.3970T>G (p.Phe1324Val) c.3853T>G (p.Phe1285Val) | |
3 | g.77644737T>A | CA353533288 | ROBO2 | c.4163T>A (p.Phe1388Tyr) c.4154T>A (p.Phe1385Tyr) c.4049T>A (p.Phe1350Tyr) c.4241T>A (p.Phe1414Tyr) c.*911T>A (n.*911T>A) c.4253T>A (p.Phe1418Tyr) c.4427T>A (p.Phe1476Tyr) c.*2401T>A (n.*2401T>A) c.4094T>A (p.Phe1365Tyr) c.509T>A (p.Phe170Tyr) c.4151T>A (p.Phe1384Tyr) c.3968T>A (p.Phe1323Tyr) n.5956T>A c.*2412T>A (n.*2412T>A) c.462T>A c.4016T>A (p.Phe1339Tyr) c.426T>A c.3584T>A (p.Phe1195Tyr) c.3980T>A (p.Phe1327Tyr) c.2189T>A (p.Phe730Tyr) c.4631T>A (p.Phe1544Tyr) c.4505T>A (p.Phe1502Tyr) c.4448T>A (p.Phe1483Tyr) c.4175T>A (p.Phe1392Tyr) c.4562T>A (p.Phe1521Tyr) c.4496T>A (p.Phe1499Tyr) c.4436T>A (p.Phe1479Tyr) c.4322T>A (p.Phe1441Tyr) c.4301T>A (p.Phe1434Tyr) c.4166T>A (p.Phe1389Tyr) c.4106T>A (p.Phe1369Tyr) c.4040T>A (p.Phe1347Tyr) c.4037T>A (p.Phe1346Tyr) c.4028T>A (p.Phe1343Tyr) c.3971T>A (p.Phe1324Tyr) c.3854T>A (p.Phe1285Tyr) | |
3 | g.77644737T>C | CA353533290 | ROBO2 | c.4163T>C (p.Phe1388Ser) c.4154T>C (p.Phe1385Ser) c.4049T>C (p.Phe1350Ser) c.4241T>C (p.Phe1414Ser) c.*911T>C (n.*911T>C) c.4253T>C (p.Phe1418Ser) c.4427T>C (p.Phe1476Ser) c.*2401T>C (n.*2401T>C) c.4094T>C (p.Phe1365Ser) c.509T>C (p.Phe170Ser) c.4151T>C (p.Phe1384Ser) c.3968T>C (p.Phe1323Ser) n.5956T>C c.*2412T>C (n.*2412T>C) c.462T>C c.4016T>C (p.Phe1339Ser) c.426T>C c.3584T>C (p.Phe1195Ser) c.3980T>C (p.Phe1327Ser) c.2189T>C (p.Phe730Ser) c.4631T>C (p.Phe1544Ser) c.4505T>C (p.Phe1502Ser) c.4448T>C (p.Phe1483Ser) c.4175T>C (p.Phe1392Ser) c.4562T>C (p.Phe1521Ser) c.4496T>C (p.Phe1499Ser) c.4436T>C (p.Phe1479Ser) c.4322T>C (p.Phe1441Ser) c.4301T>C (p.Phe1434Ser) c.4166T>C (p.Phe1389Ser) c.4106T>C (p.Phe1369Ser) c.4040T>C (p.Phe1347Ser) c.4037T>C (p.Phe1346Ser) c.4028T>C (p.Phe1343Ser) c.3971T>C (p.Phe1324Ser) c.3854T>C (p.Phe1285Ser) | |
3 | g.77644737T>G | CA353533291 | ROBO2 | c.4163T>G (p.Phe1388Cys) c.4154T>G (p.Phe1385Cys) c.4049T>G (p.Phe1350Cys) c.4241T>G (p.Phe1414Cys) c.*911T>G (n.*911T>G) c.4253T>G (p.Phe1418Cys) c.4427T>G (p.Phe1476Cys) c.*2401T>G (n.*2401T>G) c.4094T>G (p.Phe1365Cys) c.509T>G (p.Phe170Cys) c.4151T>G (p.Phe1384Cys) c.3968T>G (p.Phe1323Cys) n.5956T>G c.*2412T>G (n.*2412T>G) c.462T>G c.4016T>G (p.Phe1339Cys) c.426T>G c.3584T>G (p.Phe1195Cys) c.3980T>G (p.Phe1327Cys) c.2189T>G (p.Phe730Cys) c.4631T>G (p.Phe1544Cys) c.4505T>G (p.Phe1502Cys) c.4448T>G (p.Phe1483Cys) c.4175T>G (p.Phe1392Cys) c.4562T>G (p.Phe1521Cys) c.4496T>G (p.Phe1499Cys) c.4436T>G (p.Phe1479Cys) c.4322T>G (p.Phe1441Cys) c.4301T>G (p.Phe1434Cys) c.4166T>G (p.Phe1389Cys) c.4106T>G (p.Phe1369Cys) c.4040T>G (p.Phe1347Cys) c.4037T>G (p.Phe1346Cys) c.4028T>G (p.Phe1343Cys) c.3971T>G (p.Phe1324Cys) c.3854T>G (p.Phe1285Cys) | |
3 | g.77644738C>A | CA353533294 | ROBO2 | c.4164C>A (p.Phe1388Leu) c.4155C>A (p.Phe1385Leu) c.4050C>A (p.Phe1350Leu) c.4242C>A (p.Phe1414Leu) c.*912C>A (n.*912C>A) c.4254C>A (p.Phe1418Leu) c.4428C>A (p.Phe1476Leu) c.*2402C>A (n.*2402C>A) c.4095C>A (p.Phe1365Leu) c.510C>A (p.Phe170Leu) c.4152C>A (p.Phe1384Leu) c.3969C>A (p.Phe1323Leu) n.5957C>A c.*2413C>A (n.*2413C>A) c.463C>A c.4017C>A (p.Phe1339Leu) c.427C>A c.3585C>A (p.Phe1195Leu) c.3981C>A (p.Phe1327Leu) c.2190C>A (p.Phe730Leu) c.4632C>A (p.Phe1544Leu) c.4506C>A (p.Phe1502Leu) c.4449C>A (p.Phe1483Leu) c.4176C>A (p.Phe1392Leu) c.4563C>A (p.Phe1521Leu) c.4497C>A (p.Phe1499Leu) c.4437C>A (p.Phe1479Leu) c.4323C>A (p.Phe1441Leu) c.4302C>A (p.Phe1434Leu) c.4167C>A (p.Phe1389Leu) c.4107C>A (p.Phe1369Leu) c.4041C>A (p.Phe1347Leu) c.4038C>A (p.Phe1346Leu) c.4029C>A (p.Phe1343Leu) c.3972C>A (p.Phe1324Leu) c.3855C>A (p.Phe1285Leu) | |
3 | g.77644738C= | CA1376777930 | ROBO2 | c.4164C= (p.Phe1388=) c.4155C= (p.Phe1385=) c.4050C= (p.Phe1350=) c.4242C= (p.Phe1414=) c.*912C= (n.*912C=) c.4254C= (p.Phe1418=) c.4428C= (p.Phe1476=) c.*2402C= (n.*2402C=) c.4095C= (p.Phe1365=) c.510C= (p.Phe170=) c.4152C= (p.Phe1384=) c.3969C= (p.Phe1323=) n.5957C= c.*2413C= (n.*2413C=) c.463C= c.4017C= (p.Phe1339=) c.427C= c.3585C= (p.Phe1195=) c.3981C= (p.Phe1327=) c.2190C= (p.Phe730=) c.4632C= (p.Phe1544=) c.4506C= (p.Phe1502=) c.4449C= (p.Phe1483=) c.4176C= (p.Phe1392=) c.4563C= (p.Phe1521=) c.4497C= (p.Phe1499=) c.4437C= (p.Phe1479=) c.4323C= (p.Phe1441=) c.4302C= (p.Phe1434=) c.4167C= (p.Phe1389=) c.4107C= (p.Phe1369=) c.4041C= (p.Phe1347=) c.4038C= (p.Phe1346=) c.4029C= (p.Phe1343=) c.3972C= (p.Phe1324=) c.3855C= (p.Phe1285=) | |
3 | g.77644738C>G | CA353533296 | ROBO2 | c.4164C>G (p.Phe1388Leu) c.4155C>G (p.Phe1385Leu) c.4050C>G (p.Phe1350Leu) c.4242C>G (p.Phe1414Leu) c.*912C>G (n.*912C>G) c.4254C>G (p.Phe1418Leu) c.4428C>G (p.Phe1476Leu) c.*2402C>G (n.*2402C>G) c.4095C>G (p.Phe1365Leu) c.510C>G (p.Phe170Leu) c.4152C>G (p.Phe1384Leu) c.3969C>G (p.Phe1323Leu) n.5957C>G c.*2413C>G (n.*2413C>G) c.463C>G c.4017C>G (p.Phe1339Leu) c.427C>G c.3585C>G (p.Phe1195Leu) c.3981C>G (p.Phe1327Leu) c.2190C>G (p.Phe730Leu) c.4632C>G (p.Phe1544Leu) c.4506C>G (p.Phe1502Leu) c.4449C>G (p.Phe1483Leu) c.4176C>G (p.Phe1392Leu) c.4563C>G (p.Phe1521Leu) c.4497C>G (p.Phe1499Leu) c.4437C>G (p.Phe1479Leu) c.4323C>G (p.Phe1441Leu) c.4302C>G (p.Phe1434Leu) c.4167C>G (p.Phe1389Leu) c.4107C>G (p.Phe1369Leu) c.4041C>G (p.Phe1347Leu) c.4038C>G (p.Phe1346Leu) c.4029C>G (p.Phe1343Leu) c.3972C>G (p.Phe1324Leu) c.3855C>G (p.Phe1285Leu) | |
3 | g.77644738C>T | CA77532928 | ROBO2 | c.4164C>T (p.Phe1388=) c.4155C>T (p.Phe1385=) c.4050C>T (p.Phe1350=) c.4242C>T (p.Phe1414=) c.*912C>T (n.*912C>T) c.4254C>T (p.Phe1418=) c.4428C>T (p.Phe1476=) c.*2402C>T (n.*2402C>T) c.4095C>T (p.Phe1365=) c.510C>T (p.Phe170=) c.4152C>T (p.Phe1384=) c.3969C>T (p.Phe1323=) n.5957C>T c.*2413C>T (n.*2413C>T) c.463C>T c.4017C>T (p.Phe1339=) c.427C>T c.3585C>T (p.Phe1195=) c.3981C>T (p.Phe1327=) c.2190C>T (p.Phe730=) c.4632C>T (p.Phe1544=) c.4506C>T (p.Phe1502=) c.4449C>T (p.Phe1483=) c.4176C>T (p.Phe1392=) c.4563C>T (p.Phe1521=) c.4497C>T (p.Phe1499=) c.4437C>T (p.Phe1479=) c.4323C>T (p.Phe1441=) c.4302C>T (p.Phe1434=) c.4167C>T (p.Phe1389=) c.4107C>T (p.Phe1369=) c.4041C>T (p.Phe1347=) c.4038C>T (p.Phe1346=) c.4029C>T (p.Phe1343=) c.3972C>T (p.Phe1324=) c.3855C>T (p.Phe1285=) | dbSNP COSMIC COSMIC |
3 | g.77644739C>A | CA353533302 | ROBO2 | c.4165C>A (p.Pro1389Thr) c.4156C>A (p.Pro1386Thr) c.4051C>A (p.Pro1351Thr) c.4243C>A (p.Pro1415Thr) c.*913C>A (n.*913C>A) c.4255C>A (p.Pro1419Thr) c.4429C>A (p.Pro1477Thr) c.*2403C>A (n.*2403C>A) c.4096C>A (p.Pro1366Thr) c.511C>A (p.Pro171Thr) c.4153C>A (p.Pro1385Thr) c.3970C>A (p.Pro1324Thr) n.5958C>A c.*2414C>A (n.*2414C>A) c.464C>A c.4018C>A (p.Pro1340Thr) c.428C>A c.3586C>A (p.Pro1196Thr) c.3982C>A (p.Pro1328Thr) c.2191C>A (p.Pro731Thr) c.4633C>A (p.Pro1545Thr) c.4507C>A (p.Pro1503Thr) c.4450C>A (p.Pro1484Thr) c.4177C>A (p.Pro1393Thr) c.4564C>A (p.Pro1522Thr) c.4498C>A (p.Pro1500Thr) c.4438C>A (p.Pro1480Thr) c.4324C>A (p.Pro1442Thr) c.4303C>A (p.Pro1435Thr) c.4168C>A (p.Pro1390Thr) c.4108C>A (p.Pro1370Thr) c.4042C>A (p.Pro1348Thr) c.4039C>A (p.Pro1347Thr) c.4030C>A (p.Pro1344Thr) c.3973C>A (p.Pro1325Thr) c.3856C>A (p.Pro1286Thr) | |
3 | g.77644739C>G | CA353533298 | ROBO2 | c.4165C>G (p.Pro1389Ala) c.4156C>G (p.Pro1386Ala) c.4051C>G (p.Pro1351Ala) c.4243C>G (p.Pro1415Ala) c.*913C>G (n.*913C>G) c.4255C>G (p.Pro1419Ala) c.4429C>G (p.Pro1477Ala) c.*2403C>G (n.*2403C>G) c.4096C>G (p.Pro1366Ala) c.511C>G (p.Pro171Ala) c.4153C>G (p.Pro1385Ala) c.3970C>G (p.Pro1324Ala) n.5958C>G c.*2414C>G (n.*2414C>G) c.464C>G c.4018C>G (p.Pro1340Ala) c.428C>G c.3586C>G (p.Pro1196Ala) c.3982C>G (p.Pro1328Ala) c.2191C>G (p.Pro731Ala) c.4633C>G (p.Pro1545Ala) c.4507C>G (p.Pro1503Ala) c.4450C>G (p.Pro1484Ala) c.4177C>G (p.Pro1393Ala) c.4564C>G (p.Pro1522Ala) c.4498C>G (p.Pro1500Ala) c.4438C>G (p.Pro1480Ala) c.4324C>G (p.Pro1442Ala) c.4303C>G (p.Pro1435Ala) c.4168C>G (p.Pro1390Ala) c.4108C>G (p.Pro1370Ala) c.4042C>G (p.Pro1348Ala) c.4039C>G (p.Pro1347Ala) c.4030C>G (p.Pro1344Ala) c.3973C>G (p.Pro1325Ala) c.3856C>G (p.Pro1286Ala) | |
3 | g.77644739C>T | CA353533300 | ROBO2 | c.4165C>T (p.Pro1389Ser) c.4156C>T (p.Pro1386Ser) c.4051C>T (p.Pro1351Ser) c.4243C>T (p.Pro1415Ser) c.*913C>T (n.*913C>T) c.4255C>T (p.Pro1419Ser) c.4429C>T (p.Pro1477Ser) c.*2403C>T (n.*2403C>T) c.4096C>T (p.Pro1366Ser) c.511C>T (p.Pro171Ser) c.4153C>T (p.Pro1385Ser) c.3970C>T (p.Pro1324Ser) n.5958C>T c.*2414C>T (n.*2414C>T) c.464C>T c.4018C>T (p.Pro1340Ser) c.428C>T c.3586C>T (p.Pro1196Ser) c.3982C>T (p.Pro1328Ser) c.2191C>T (p.Pro731Ser) c.4633C>T (p.Pro1545Ser) c.4507C>T (p.Pro1503Ser) c.4450C>T (p.Pro1484Ser) c.4177C>T (p.Pro1393Ser) c.4564C>T (p.Pro1522Ser) c.4498C>T (p.Pro1500Ser) c.4438C>T (p.Pro1480Ser) c.4324C>T (p.Pro1442Ser) c.4303C>T (p.Pro1435Ser) c.4168C>T (p.Pro1390Ser) c.4108C>T (p.Pro1370Ser) c.4042C>T (p.Pro1348Ser) c.4039C>T (p.Pro1347Ser) c.4030C>T (p.Pro1344Ser) c.3973C>T (p.Pro1325Ser) c.3856C>T (p.Pro1286Ser) | COSMIC COSMIC |
3 | g.77644740C>A | CA353533304 | ROBO2 | c.4166C>A (p.Pro1389Gln) c.4157C>A (p.Pro1386Gln) c.4052C>A (p.Pro1351Gln) c.4244C>A (p.Pro1415Gln) c.*914C>A (n.*914C>A) c.4256C>A (p.Pro1419Gln) c.4430C>A (p.Pro1477Gln) c.*2404C>A (n.*2404C>A) c.4097C>A (p.Pro1366Gln) c.512C>A (p.Pro171Gln) c.4154C>A (p.Pro1385Gln) c.3971C>A (p.Pro1324Gln) n.5959C>A c.*2415C>A (n.*2415C>A) c.465C>A c.4019C>A (p.Pro1340Gln) c.429C>A c.3587C>A (p.Pro1196Gln) c.3983C>A (p.Pro1328Gln) c.2192C>A (p.Pro731Gln) c.4634C>A (p.Pro1545Gln) c.4508C>A (p.Pro1503Gln) c.4451C>A (p.Pro1484Gln) c.4178C>A (p.Pro1393Gln) c.4565C>A (p.Pro1522Gln) c.4499C>A (p.Pro1500Gln) c.4439C>A (p.Pro1480Gln) c.4325C>A (p.Pro1442Gln) c.4304C>A (p.Pro1435Gln) c.4169C>A (p.Pro1390Gln) c.4109C>A (p.Pro1370Gln) c.4043C>A (p.Pro1348Gln) c.4040C>A (p.Pro1347Gln) c.4031C>A (p.Pro1344Gln) c.3974C>A (p.Pro1325Gln) c.3857C>A (p.Pro1286Gln) | |
3 | g.77644740C>G | CA353533306 | ROBO2 | c.4166C>G (p.Pro1389Arg) c.4157C>G (p.Pro1386Arg) c.4052C>G (p.Pro1351Arg) c.4244C>G (p.Pro1415Arg) c.*914C>G (n.*914C>G) c.4256C>G (p.Pro1419Arg) c.4430C>G (p.Pro1477Arg) c.*2404C>G (n.*2404C>G) c.4097C>G (p.Pro1366Arg) c.512C>G (p.Pro171Arg) c.4154C>G (p.Pro1385Arg) c.3971C>G (p.Pro1324Arg) n.5959C>G c.*2415C>G (n.*2415C>G) c.465C>G c.4019C>G (p.Pro1340Arg) c.429C>G c.3587C>G (p.Pro1196Arg) c.3983C>G (p.Pro1328Arg) c.2192C>G (p.Pro731Arg) c.4634C>G (p.Pro1545Arg) c.4508C>G (p.Pro1503Arg) c.4451C>G (p.Pro1484Arg) c.4178C>G (p.Pro1393Arg) c.4565C>G (p.Pro1522Arg) c.4499C>G (p.Pro1500Arg) c.4439C>G (p.Pro1480Arg) c.4325C>G (p.Pro1442Arg) c.4304C>G (p.Pro1435Arg) c.4169C>G (p.Pro1390Arg) c.4109C>G (p.Pro1370Arg) c.4043C>G (p.Pro1348Arg) c.4040C>G (p.Pro1347Arg) c.4031C>G (p.Pro1344Arg) c.3974C>G (p.Pro1325Arg) c.3857C>G (p.Pro1286Arg) | |
3 | g.77644740C>T | CA353533309 | ROBO2 | c.4166C>T (p.Pro1389Leu) c.4157C>T (p.Pro1386Leu) c.4052C>T (p.Pro1351Leu) c.4244C>T (p.Pro1415Leu) c.*914C>T (n.*914C>T) c.4256C>T (p.Pro1419Leu) c.4430C>T (p.Pro1477Leu) c.*2404C>T (n.*2404C>T) c.4097C>T (p.Pro1366Leu) c.512C>T (p.Pro171Leu) c.4154C>T (p.Pro1385Leu) c.3971C>T (p.Pro1324Leu) n.5959C>T c.*2415C>T (n.*2415C>T) c.465C>T c.4019C>T (p.Pro1340Leu) c.429C>T c.3587C>T (p.Pro1196Leu) c.3983C>T (p.Pro1328Leu) c.2192C>T (p.Pro731Leu) c.4634C>T (p.Pro1545Leu) c.4508C>T (p.Pro1503Leu) c.4451C>T (p.Pro1484Leu) c.4178C>T (p.Pro1393Leu) c.4565C>T (p.Pro1522Leu) c.4499C>T (p.Pro1500Leu) c.4439C>T (p.Pro1480Leu) c.4325C>T (p.Pro1442Leu) c.4304C>T (p.Pro1435Leu) c.4169C>T (p.Pro1390Leu) c.4109C>T (p.Pro1370Leu) c.4043C>T (p.Pro1348Leu) c.4040C>T (p.Pro1347Leu) c.4031C>T (p.Pro1344Leu) c.3974C>T (p.Pro1325Leu) c.3857C>T (p.Pro1286Leu) | COSMIC COSMIC |
3 | g.77644741A>C | CA434435241 | ROBO2 | c.4167A>C (p.Pro1389=) c.4158A>C (p.Pro1386=) c.4053A>C (p.Pro1351=) c.4245A>C (p.Pro1415=) c.*915A>C (n.*915A>C) c.4257A>C (p.Pro1419=) c.4431A>C (p.Pro1477=) c.*2405A>C (n.*2405A>C) c.4098A>C (p.Pro1366=) c.513A>C (p.Pro171=) c.4155A>C (p.Pro1385=) c.3972A>C (p.Pro1324=) n.5960A>C c.*2416A>C (n.*2416A>C) c.466A>C c.4020A>C (p.Pro1340=) c.430A>C c.3588A>C (p.Pro1196=) c.3984A>C (p.Pro1328=) c.2193A>C (p.Pro731=) c.4635A>C (p.Pro1545=) c.4509A>C (p.Pro1503=) c.4452A>C (p.Pro1484=) c.4179A>C (p.Pro1393=) c.4566A>C (p.Pro1522=) c.4500A>C (p.Pro1500=) c.4440A>C (p.Pro1480=) c.4326A>C (p.Pro1442=) c.4305A>C (p.Pro1435=) c.4170A>C (p.Pro1390=) c.4110A>C (p.Pro1370=) c.4044A>C (p.Pro1348=) c.4041A>C (p.Pro1347=) c.4032A>C (p.Pro1344=) c.3975A>C (p.Pro1325=) c.3858A>C (p.Pro1286=) | |
3 | g.77644741A>G | CA434435243 | ROBO2 | c.4167A>G (p.Pro1389=) c.4158A>G (p.Pro1386=) c.4053A>G (p.Pro1351=) c.4245A>G (p.Pro1415=) c.*915A>G (n.*915A>G) c.4257A>G (p.Pro1419=) c.4431A>G (p.Pro1477=) c.*2405A>G (n.*2405A>G) c.4098A>G (p.Pro1366=) c.513A>G (p.Pro171=) c.4155A>G (p.Pro1385=) c.3972A>G (p.Pro1324=) n.5960A>G c.*2416A>G (n.*2416A>G) c.466A>G c.4020A>G (p.Pro1340=) c.430A>G c.3588A>G (p.Pro1196=) c.3984A>G (p.Pro1328=) c.2193A>G (p.Pro731=) c.4635A>G (p.Pro1545=) c.4509A>G (p.Pro1503=) c.4452A>G (p.Pro1484=) c.4179A>G (p.Pro1393=) c.4566A>G (p.Pro1522=) c.4500A>G (p.Pro1500=) c.4440A>G (p.Pro1480=) c.4326A>G (p.Pro1442=) c.4305A>G (p.Pro1435=) c.4170A>G (p.Pro1390=) c.4110A>G (p.Pro1370=) c.4044A>G (p.Pro1348=) c.4041A>G (p.Pro1347=) c.4032A>G (p.Pro1344=) c.3975A>G (p.Pro1325=) c.3858A>G (p.Pro1286=) | gnomAD v4 |
3 | g.77644741A>T | CA434435242 | ROBO2 | c.4167A>T (p.Pro1389=) c.4158A>T (p.Pro1386=) c.4053A>T (p.Pro1351=) c.4245A>T (p.Pro1415=) c.*915A>T (n.*915A>T) c.4257A>T (p.Pro1419=) c.4431A>T (p.Pro1477=) c.*2405A>T (n.*2405A>T) c.4098A>T (p.Pro1366=) c.513A>T (p.Pro171=) c.4155A>T (p.Pro1385=) c.3972A>T (p.Pro1324=) n.5960A>T c.*2416A>T (n.*2416A>T) c.466A>T c.4020A>T (p.Pro1340=) c.430A>T c.3588A>T (p.Pro1196=) c.3984A>T (p.Pro1328=) c.2193A>T (p.Pro731=) c.4635A>T (p.Pro1545=) c.4509A>T (p.Pro1503=) c.4452A>T (p.Pro1484=) c.4179A>T (p.Pro1393=) c.4566A>T (p.Pro1522=) c.4500A>T (p.Pro1500=) c.4440A>T (p.Pro1480=) c.4326A>T (p.Pro1442=) c.4305A>T (p.Pro1435=) c.4170A>T (p.Pro1390=) c.4110A>T (p.Pro1370=) c.4044A>T (p.Pro1348=) c.4041A>T (p.Pro1347=) c.4032A>T (p.Pro1344=) c.3975A>T (p.Pro1325=) c.3858A>T (p.Pro1286=) | |
3 | g.77644742T>A | CA353533311 | ROBO2 | c.4168T>A (p.Ser1390Thr) c.4159T>A (p.Ser1387Thr) c.4054T>A (p.Ser1352Thr) c.4246T>A (p.Ser1416Thr) c.*916T>A (n.*916T>A) c.4258T>A (p.Ser1420Thr) c.4432T>A (p.Ser1478Thr) c.*2406T>A (n.*2406T>A) c.4099T>A (p.Ser1367Thr) c.514T>A (p.Ser172Thr) c.4156T>A (p.Ser1386Thr) c.3973T>A (p.Ser1325Thr) n.5961T>A c.*2417T>A (n.*2417T>A) c.467T>A c.4021T>A (p.Ser1341Thr) c.431T>A c.3589T>A (p.Ser1197Thr) c.3985T>A (p.Ser1329Thr) c.2194T>A (p.Ser732Thr) c.4636T>A (p.Ser1546Thr) c.4510T>A (p.Ser1504Thr) c.4453T>A (p.Ser1485Thr) c.4180T>A (p.Ser1394Thr) c.4567T>A (p.Ser1523Thr) c.4501T>A (p.Ser1501Thr) c.4441T>A (p.Ser1481Thr) c.4327T>A (p.Ser1443Thr) c.4306T>A (p.Ser1436Thr) c.4171T>A (p.Ser1391Thr) c.4111T>A (p.Ser1371Thr) c.4045T>A (p.Ser1349Thr) c.4042T>A (p.Ser1348Thr) c.4033T>A (p.Ser1345Thr) c.3976T>A (p.Ser1326Thr) c.3859T>A (p.Ser1287Thr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644742T>C | CA353533312 | ROBO2 | c.4168T>C (p.Ser1390Pro) c.4159T>C (p.Ser1387Pro) c.4054T>C (p.Ser1352Pro) c.4246T>C (p.Ser1416Pro) c.*916T>C (n.*916T>C) c.4258T>C (p.Ser1420Pro) c.4432T>C (p.Ser1478Pro) c.*2406T>C (n.*2406T>C) c.4099T>C (p.Ser1367Pro) c.514T>C (p.Ser172Pro) c.4156T>C (p.Ser1386Pro) c.3973T>C (p.Ser1325Pro) n.5961T>C c.*2417T>C (n.*2417T>C) c.467T>C c.4021T>C (p.Ser1341Pro) c.431T>C c.3589T>C (p.Ser1197Pro) c.3985T>C (p.Ser1329Pro) c.2194T>C (p.Ser732Pro) c.4636T>C (p.Ser1546Pro) c.4510T>C (p.Ser1504Pro) c.4453T>C (p.Ser1485Pro) c.4180T>C (p.Ser1394Pro) c.4567T>C (p.Ser1523Pro) c.4501T>C (p.Ser1501Pro) c.4441T>C (p.Ser1481Pro) c.4327T>C (p.Ser1443Pro) c.4306T>C (p.Ser1436Pro) c.4171T>C (p.Ser1391Pro) c.4111T>C (p.Ser1371Pro) c.4045T>C (p.Ser1349Pro) c.4042T>C (p.Ser1348Pro) c.4033T>C (p.Ser1345Pro) c.3976T>C (p.Ser1326Pro) c.3859T>C (p.Ser1287Pro) | |
3 | g.77644742T>G | CA353533314 | ROBO2 | c.4168T>G (p.Ser1390Ala) c.4159T>G (p.Ser1387Ala) c.4054T>G (p.Ser1352Ala) c.4246T>G (p.Ser1416Ala) c.*916T>G (n.*916T>G) c.4258T>G (p.Ser1420Ala) c.4432T>G (p.Ser1478Ala) c.*2406T>G (n.*2406T>G) c.4099T>G (p.Ser1367Ala) c.514T>G (p.Ser172Ala) c.4156T>G (p.Ser1386Ala) c.3973T>G (p.Ser1325Ala) n.5961T>G c.*2417T>G (n.*2417T>G) c.467T>G c.4021T>G (p.Ser1341Ala) c.431T>G c.3589T>G (p.Ser1197Ala) c.3985T>G (p.Ser1329Ala) c.2194T>G (p.Ser732Ala) c.4636T>G (p.Ser1546Ala) c.4510T>G (p.Ser1504Ala) c.4453T>G (p.Ser1485Ala) c.4180T>G (p.Ser1394Ala) c.4567T>G (p.Ser1523Ala) c.4501T>G (p.Ser1501Ala) c.4441T>G (p.Ser1481Ala) c.4327T>G (p.Ser1443Ala) c.4306T>G (p.Ser1436Ala) c.4171T>G (p.Ser1391Ala) c.4111T>G (p.Ser1371Ala) c.4045T>G (p.Ser1349Ala) c.4042T>G (p.Ser1348Ala) c.4033T>G (p.Ser1345Ala) c.3976T>G (p.Ser1326Ala) c.3859T>G (p.Ser1287Ala) | |
3 | g.77644742T= | CA1376777931 | ROBO2 | c.4168T= (p.Ser1390=) c.4159T= (p.Ser1387=) c.4054T= (p.Ser1352=) c.4246T= (p.Ser1416=) c.*916T= (n.*916T=) c.4258T= (p.Ser1420=) c.4432T= (p.Ser1478=) c.*2406T= (n.*2406T=) c.4099T= (p.Ser1367=) c.514T= (p.Ser172=) c.4156T= (p.Ser1386=) c.3973T= (p.Ser1325=) n.5961T= c.*2417T= (n.*2417T=) c.467T= c.4021T= (p.Ser1341=) c.431T= c.3589T= (p.Ser1197=) c.3985T= (p.Ser1329=) c.2194T= (p.Ser732=) c.4636T= (p.Ser1546=) c.4510T= (p.Ser1504=) c.4453T= (p.Ser1485=) c.4180T= (p.Ser1394=) c.4567T= (p.Ser1523=) c.4501T= (p.Ser1501=) c.4441T= (p.Ser1481=) c.4327T= (p.Ser1443=) c.4306T= (p.Ser1436=) c.4171T= (p.Ser1391=) c.4111T= (p.Ser1371=) c.4045T= (p.Ser1349=) c.4042T= (p.Ser1348=) c.4033T= (p.Ser1345=) c.3976T= (p.Ser1326=) c.3859T= (p.Ser1287=) | |
3 | g.77644743C>A | CA353533317 | ROBO2 | c.4169C>A (p.Ser1390Tyr) c.4160C>A (p.Ser1387Tyr) c.4055C>A (p.Ser1352Tyr) c.4247C>A (p.Ser1416Tyr) c.*917C>A (n.*917C>A) c.4259C>A (p.Ser1420Tyr) c.4433C>A (p.Ser1478Tyr) c.*2407C>A (n.*2407C>A) c.4100C>A (p.Ser1367Tyr) c.515C>A (p.Ser172Tyr) c.4157C>A (p.Ser1386Tyr) c.3974C>A (p.Ser1325Tyr) n.5962C>A c.*2418C>A (n.*2418C>A) c.468C>A c.4022C>A (p.Ser1341Tyr) c.432C>A c.3590C>A (p.Ser1197Tyr) c.3986C>A (p.Ser1329Tyr) c.2195C>A (p.Ser732Tyr) c.4637C>A (p.Ser1546Tyr) c.4511C>A (p.Ser1504Tyr) c.4454C>A (p.Ser1485Tyr) c.4181C>A (p.Ser1394Tyr) c.4568C>A (p.Ser1523Tyr) c.4502C>A (p.Ser1501Tyr) c.4442C>A (p.Ser1481Tyr) c.4328C>A (p.Ser1443Tyr) c.4307C>A (p.Ser1436Tyr) c.4172C>A (p.Ser1391Tyr) c.4112C>A (p.Ser1371Tyr) c.4046C>A (p.Ser1349Tyr) c.4043C>A (p.Ser1348Tyr) c.4034C>A (p.Ser1345Tyr) c.3977C>A (p.Ser1326Tyr) c.3860C>A (p.Ser1287Tyr) | |
3 | g.77644743C>G | CA353533319 | ROBO2 | c.4169C>G (p.Ser1390Cys) c.4160C>G (p.Ser1387Cys) c.4055C>G (p.Ser1352Cys) c.4247C>G (p.Ser1416Cys) c.*917C>G (n.*917C>G) c.4259C>G (p.Ser1420Cys) c.4433C>G (p.Ser1478Cys) c.*2407C>G (n.*2407C>G) c.4100C>G (p.Ser1367Cys) c.515C>G (p.Ser172Cys) c.4157C>G (p.Ser1386Cys) c.3974C>G (p.Ser1325Cys) n.5962C>G c.*2418C>G (n.*2418C>G) c.468C>G c.4022C>G (p.Ser1341Cys) c.432C>G c.3590C>G (p.Ser1197Cys) c.3986C>G (p.Ser1329Cys) c.2195C>G (p.Ser732Cys) c.4637C>G (p.Ser1546Cys) c.4511C>G (p.Ser1504Cys) c.4454C>G (p.Ser1485Cys) c.4181C>G (p.Ser1394Cys) c.4568C>G (p.Ser1523Cys) c.4502C>G (p.Ser1501Cys) c.4442C>G (p.Ser1481Cys) c.4328C>G (p.Ser1443Cys) c.4307C>G (p.Ser1436Cys) c.4172C>G (p.Ser1391Cys) c.4112C>G (p.Ser1371Cys) c.4046C>G (p.Ser1349Cys) c.4043C>G (p.Ser1348Cys) c.4034C>G (p.Ser1345Cys) c.3977C>G (p.Ser1326Cys) c.3860C>G (p.Ser1287Cys) | |
3 | g.77644743C>T | CA353533321 | ROBO2 | c.4169C>T (p.Ser1390Phe) c.4160C>T (p.Ser1387Phe) c.4055C>T (p.Ser1352Phe) c.4247C>T (p.Ser1416Phe) c.*917C>T (n.*917C>T) c.4259C>T (p.Ser1420Phe) c.4433C>T (p.Ser1478Phe) c.*2407C>T (n.*2407C>T) c.4100C>T (p.Ser1367Phe) c.515C>T (p.Ser172Phe) c.4157C>T (p.Ser1386Phe) c.3974C>T (p.Ser1325Phe) n.5962C>T c.*2418C>T (n.*2418C>T) c.468C>T c.4022C>T (p.Ser1341Phe) c.432C>T c.3590C>T (p.Ser1197Phe) c.3986C>T (p.Ser1329Phe) c.2195C>T (p.Ser732Phe) c.4637C>T (p.Ser1546Phe) c.4511C>T (p.Ser1504Phe) c.4454C>T (p.Ser1485Phe) c.4181C>T (p.Ser1394Phe) c.4568C>T (p.Ser1523Phe) c.4502C>T (p.Ser1501Phe) c.4442C>T (p.Ser1481Phe) c.4328C>T (p.Ser1443Phe) c.4307C>T (p.Ser1436Phe) c.4172C>T (p.Ser1391Phe) c.4112C>T (p.Ser1371Phe) c.4046C>T (p.Ser1349Phe) c.4043C>T (p.Ser1348Phe) c.4034C>T (p.Ser1345Phe) c.3977C>T (p.Ser1326Phe) c.3860C>T (p.Ser1287Phe) | |
3 | g.77644744T>A | CA434435244 | ROBO2 | c.4170T>A (p.Ser1390=) c.4161T>A (p.Ser1387=) c.4056T>A (p.Ser1352=) c.4248T>A (p.Ser1416=) c.*918T>A (n.*918T>A) c.4260T>A (p.Ser1420=) c.4434T>A (p.Ser1478=) c.*2408T>A (n.*2408T>A) c.4101T>A (p.Ser1367=) c.516T>A (p.Ser172=) c.4158T>A (p.Ser1386=) c.3975T>A (p.Ser1325=) n.5963T>A c.*2419T>A (n.*2419T>A) c.469T>A c.4023T>A (p.Ser1341=) c.433T>A c.3591T>A (p.Ser1197=) c.3987T>A (p.Ser1329=) c.2196T>A (p.Ser732=) c.4638T>A (p.Ser1546=) c.4512T>A (p.Ser1504=) c.4455T>A (p.Ser1485=) c.4182T>A (p.Ser1394=) c.4569T>A (p.Ser1523=) c.4503T>A (p.Ser1501=) c.4443T>A (p.Ser1481=) c.4329T>A (p.Ser1443=) c.4308T>A (p.Ser1436=) c.4173T>A (p.Ser1391=) c.4113T>A (p.Ser1371=) c.4047T>A (p.Ser1349=) c.4044T>A (p.Ser1348=) c.4035T>A (p.Ser1345=) c.3978T>A (p.Ser1326=) c.3861T>A (p.Ser1287=) | |
3 | g.77644744T>C | CA434435245 | ROBO2 | c.4170T>C (p.Ser1390=) c.4161T>C (p.Ser1387=) c.4056T>C (p.Ser1352=) c.4248T>C (p.Ser1416=) c.*918T>C (n.*918T>C) c.4260T>C (p.Ser1420=) c.4434T>C (p.Ser1478=) c.*2408T>C (n.*2408T>C) c.4101T>C (p.Ser1367=) c.516T>C (p.Ser172=) c.4158T>C (p.Ser1386=) c.3975T>C (p.Ser1325=) n.5963T>C c.*2419T>C (n.*2419T>C) c.469T>C c.4023T>C (p.Ser1341=) c.433T>C c.3591T>C (p.Ser1197=) c.3987T>C (p.Ser1329=) c.2196T>C (p.Ser732=) c.4638T>C (p.Ser1546=) c.4512T>C (p.Ser1504=) c.4455T>C (p.Ser1485=) c.4182T>C (p.Ser1394=) c.4569T>C (p.Ser1523=) c.4503T>C (p.Ser1501=) c.4443T>C (p.Ser1481=) c.4329T>C (p.Ser1443=) c.4308T>C (p.Ser1436=) c.4173T>C (p.Ser1391=) c.4113T>C (p.Ser1371=) c.4047T>C (p.Ser1349=) c.4044T>C (p.Ser1348=) c.4035T>C (p.Ser1345=) c.3978T>C (p.Ser1326=) c.3861T>C (p.Ser1287=) | |
3 | g.77644744T>G | CA434435246 | ROBO2 | c.4170T>G (p.Ser1390=) c.4161T>G (p.Ser1387=) c.4056T>G (p.Ser1352=) c.4248T>G (p.Ser1416=) c.*918T>G (n.*918T>G) c.4260T>G (p.Ser1420=) c.4434T>G (p.Ser1478=) c.*2408T>G (n.*2408T>G) c.4101T>G (p.Ser1367=) c.516T>G (p.Ser172=) c.4158T>G (p.Ser1386=) c.3975T>G (p.Ser1325=) n.5963T>G c.*2419T>G (n.*2419T>G) c.469T>G c.4023T>G (p.Ser1341=) c.433T>G c.3591T>G (p.Ser1197=) c.3987T>G (p.Ser1329=) c.2196T>G (p.Ser732=) c.4638T>G (p.Ser1546=) c.4512T>G (p.Ser1504=) c.4455T>G (p.Ser1485=) c.4182T>G (p.Ser1394=) c.4569T>G (p.Ser1523=) c.4503T>G (p.Ser1501=) c.4443T>G (p.Ser1481=) c.4329T>G (p.Ser1443=) c.4308T>G (p.Ser1436=) c.4173T>G (p.Ser1391=) c.4113T>G (p.Ser1371=) c.4047T>G (p.Ser1349=) c.4044T>G (p.Ser1348=) c.4035T>G (p.Ser1345=) c.3978T>G (p.Ser1326=) c.3861T>G (p.Ser1287=) | |
3 | g.77644745C>A | CA353533323 | ROBO2 | c.4171C>A (p.Pro1391Thr) c.4162C>A (p.Pro1388Thr) c.4057C>A (p.Pro1353Thr) c.4249C>A (p.Pro1417Thr) c.*919C>A (n.*919C>A) c.4261C>A (p.Pro1421Thr) c.4435C>A (p.Pro1479Thr) c.*2409C>A (n.*2409C>A) c.4102C>A (p.Pro1368Thr) c.517C>A (p.Pro173Thr) c.4159C>A (p.Pro1387Thr) c.3976C>A (p.Pro1326Thr) n.5964C>A c.*2420C>A (n.*2420C>A) c.470C>A c.4024C>A (p.Pro1342Thr) c.434C>A c.3592C>A (p.Pro1198Thr) c.3988C>A (p.Pro1330Thr) c.2197C>A (p.Pro733Thr) c.4639C>A (p.Pro1547Thr) c.4513C>A (p.Pro1505Thr) c.4456C>A (p.Pro1486Thr) c.4183C>A (p.Pro1395Thr) c.4570C>A (p.Pro1524Thr) c.4504C>A (p.Pro1502Thr) c.4444C>A (p.Pro1482Thr) c.4330C>A (p.Pro1444Thr) c.4309C>A (p.Pro1437Thr) c.4174C>A (p.Pro1392Thr) c.4114C>A (p.Pro1372Thr) c.4048C>A (p.Pro1350Thr) c.4045C>A (p.Pro1349Thr) c.4036C>A (p.Pro1346Thr) c.3979C>A (p.Pro1327Thr) c.3862C>A (p.Pro1288Thr) | |
3 | g.77644745C>G | CA353533325 | ROBO2 | c.4171C>G (p.Pro1391Ala) c.4162C>G (p.Pro1388Ala) c.4057C>G (p.Pro1353Ala) c.4249C>G (p.Pro1417Ala) c.*919C>G (n.*919C>G) c.4261C>G (p.Pro1421Ala) c.4435C>G (p.Pro1479Ala) c.*2409C>G (n.*2409C>G) c.4102C>G (p.Pro1368Ala) c.517C>G (p.Pro173Ala) c.4159C>G (p.Pro1387Ala) c.3976C>G (p.Pro1326Ala) n.5964C>G c.*2420C>G (n.*2420C>G) c.470C>G c.4024C>G (p.Pro1342Ala) c.434C>G c.3592C>G (p.Pro1198Ala) c.3988C>G (p.Pro1330Ala) c.2197C>G (p.Pro733Ala) c.4639C>G (p.Pro1547Ala) c.4513C>G (p.Pro1505Ala) c.4456C>G (p.Pro1486Ala) c.4183C>G (p.Pro1395Ala) c.4570C>G (p.Pro1524Ala) c.4504C>G (p.Pro1502Ala) c.4444C>G (p.Pro1482Ala) c.4330C>G (p.Pro1444Ala) c.4309C>G (p.Pro1437Ala) c.4174C>G (p.Pro1392Ala) c.4114C>G (p.Pro1372Ala) c.4048C>G (p.Pro1350Ala) c.4045C>G (p.Pro1349Ala) c.4036C>G (p.Pro1346Ala) c.3979C>G (p.Pro1327Ala) c.3862C>G (p.Pro1288Ala) | |
3 | g.77644745C>T | CA353533327 | ROBO2 | c.4171C>T (p.Pro1391Ser) c.4162C>T (p.Pro1388Ser) c.4057C>T (p.Pro1353Ser) c.4249C>T (p.Pro1417Ser) c.*919C>T (n.*919C>T) c.4261C>T (p.Pro1421Ser) c.4435C>T (p.Pro1479Ser) c.*2409C>T (n.*2409C>T) c.4102C>T (p.Pro1368Ser) c.517C>T (p.Pro173Ser) c.4159C>T (p.Pro1387Ser) c.3976C>T (p.Pro1326Ser) n.5964C>T c.*2420C>T (n.*2420C>T) c.470C>T c.4024C>T (p.Pro1342Ser) c.434C>T c.3592C>T (p.Pro1198Ser) c.3988C>T (p.Pro1330Ser) c.2197C>T (p.Pro733Ser) c.4639C>T (p.Pro1547Ser) c.4513C>T (p.Pro1505Ser) c.4456C>T (p.Pro1486Ser) c.4183C>T (p.Pro1395Ser) c.4570C>T (p.Pro1524Ser) c.4504C>T (p.Pro1502Ser) c.4444C>T (p.Pro1482Ser) c.4330C>T (p.Pro1444Ser) c.4309C>T (p.Pro1437Ser) c.4174C>T (p.Pro1392Ser) c.4114C>T (p.Pro1372Ser) c.4048C>T (p.Pro1350Ser) c.4045C>T (p.Pro1349Ser) c.4036C>T (p.Pro1346Ser) c.3979C>T (p.Pro1327Ser) c.3862C>T (p.Pro1288Ser) | gnomAD v4 |
3 | g.77644746C>A | CA353533329 | ROBO2 | c.4172C>A (p.Pro1391Gln) c.4163C>A (p.Pro1388Gln) c.4058C>A (p.Pro1353Gln) c.4250C>A (p.Pro1417Gln) c.*920C>A (n.*920C>A) c.4262C>A (p.Pro1421Gln) c.4436C>A (p.Pro1479Gln) c.*2410C>A (n.*2410C>A) c.4103C>A (p.Pro1368Gln) c.518C>A (p.Pro173Gln) c.4160C>A (p.Pro1387Gln) c.3977C>A (p.Pro1326Gln) n.5965C>A c.*2421C>A (n.*2421C>A) c.471C>A c.4025C>A (p.Pro1342Gln) c.435C>A c.3593C>A (p.Pro1198Gln) c.3989C>A (p.Pro1330Gln) c.2198C>A (p.Pro733Gln) c.4640C>A (p.Pro1547Gln) c.4514C>A (p.Pro1505Gln) c.4457C>A (p.Pro1486Gln) c.4184C>A (p.Pro1395Gln) c.4571C>A (p.Pro1524Gln) c.4505C>A (p.Pro1502Gln) c.4445C>A (p.Pro1482Gln) c.4331C>A (p.Pro1444Gln) c.4310C>A (p.Pro1437Gln) c.4175C>A (p.Pro1392Gln) c.4115C>A (p.Pro1372Gln) c.4049C>A (p.Pro1350Gln) c.4046C>A (p.Pro1349Gln) c.4037C>A (p.Pro1346Gln) c.3980C>A (p.Pro1327Gln) c.3863C>A (p.Pro1288Gln) | |
3 | g.77644746C= | CA1376777932 | ROBO2 | c.4172C= (p.Pro1391=) c.4163C= (p.Pro1388=) c.4058C= (p.Pro1353=) c.4250C= (p.Pro1417=) c.*920C= (n.*920C=) c.4262C= (p.Pro1421=) c.4436C= (p.Pro1479=) c.*2410C= (n.*2410C=) c.4103C= (p.Pro1368=) c.518C= (p.Pro173=) c.4160C= (p.Pro1387=) c.3977C= (p.Pro1326=) n.5965C= c.*2421C= (n.*2421C=) c.471C= c.4025C= (p.Pro1342=) c.435C= c.3593C= (p.Pro1198=) c.3989C= (p.Pro1330=) c.2198C= (p.Pro733=) c.4640C= (p.Pro1547=) c.4514C= (p.Pro1505=) c.4457C= (p.Pro1486=) c.4184C= (p.Pro1395=) c.4571C= (p.Pro1524=) c.4505C= (p.Pro1502=) c.4445C= (p.Pro1482=) c.4331C= (p.Pro1444=) c.4310C= (p.Pro1437=) c.4175C= (p.Pro1392=) c.4115C= (p.Pro1372=) c.4049C= (p.Pro1350=) c.4046C= (p.Pro1349=) c.4037C= (p.Pro1346=) c.3980C= (p.Pro1327=) c.3863C= (p.Pro1288=) | |
3 | g.77644746C>G | CA77532931 | ROBO2 | c.4172C>G (p.Pro1391Arg) c.4163C>G (p.Pro1388Arg) c.4058C>G (p.Pro1353Arg) c.4250C>G (p.Pro1417Arg) c.*920C>G (n.*920C>G) c.4262C>G (p.Pro1421Arg) c.4436C>G (p.Pro1479Arg) c.*2410C>G (n.*2410C>G) c.4103C>G (p.Pro1368Arg) c.518C>G (p.Pro173Arg) c.4160C>G (p.Pro1387Arg) c.3977C>G (p.Pro1326Arg) n.5965C>G c.*2421C>G (n.*2421C>G) c.471C>G c.4025C>G (p.Pro1342Arg) c.435C>G c.3593C>G (p.Pro1198Arg) c.3989C>G (p.Pro1330Arg) c.2198C>G (p.Pro733Arg) c.4640C>G (p.Pro1547Arg) c.4514C>G (p.Pro1505Arg) c.4457C>G (p.Pro1486Arg) c.4184C>G (p.Pro1395Arg) c.4571C>G (p.Pro1524Arg) c.4505C>G (p.Pro1502Arg) c.4445C>G (p.Pro1482Arg) c.4331C>G (p.Pro1444Arg) c.4310C>G (p.Pro1437Arg) c.4175C>G (p.Pro1392Arg) c.4115C>G (p.Pro1372Arg) c.4049C>G (p.Pro1350Arg) c.4046C>G (p.Pro1349Arg) c.4037C>G (p.Pro1346Arg) c.3980C>G (p.Pro1327Arg) c.3863C>G (p.Pro1288Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.77644746C>T | CA353533331 | ROBO2 | c.4172C>T (p.Pro1391Leu) c.4163C>T (p.Pro1388Leu) c.4058C>T (p.Pro1353Leu) c.4250C>T (p.Pro1417Leu) c.*920C>T (n.*920C>T) c.4262C>T (p.Pro1421Leu) c.4436C>T (p.Pro1479Leu) c.*2410C>T (n.*2410C>T) c.4103C>T (p.Pro1368Leu) c.518C>T (p.Pro173Leu) c.4160C>T (p.Pro1387Leu) c.3977C>T (p.Pro1326Leu) n.5965C>T c.*2421C>T (n.*2421C>T) c.471C>T c.4025C>T (p.Pro1342Leu) c.435C>T c.3593C>T (p.Pro1198Leu) c.3989C>T (p.Pro1330Leu) c.2198C>T (p.Pro733Leu) c.4640C>T (p.Pro1547Leu) c.4514C>T (p.Pro1505Leu) c.4457C>T (p.Pro1486Leu) c.4184C>T (p.Pro1395Leu) c.4571C>T (p.Pro1524Leu) c.4505C>T (p.Pro1502Leu) c.4445C>T (p.Pro1482Leu) c.4331C>T (p.Pro1444Leu) c.4310C>T (p.Pro1437Leu) c.4175C>T (p.Pro1392Leu) c.4115C>T (p.Pro1372Leu) c.4049C>T (p.Pro1350Leu) c.4046C>T (p.Pro1349Leu) c.4037C>T (p.Pro1346Leu) c.3980C>T (p.Pro1327Leu) c.3863C>T (p.Pro1288Leu) | |
3 | g.77644747A>C | CA434435247 | ROBO2 | c.4173A>C (p.Pro1391=) c.4164A>C (p.Pro1388=) c.4059A>C (p.Pro1353=) c.4251A>C (p.Pro1417=) c.*921A>C (n.*921A>C) c.4263A>C (p.Pro1421=) c.4437A>C (p.Pro1479=) c.*2411A>C (n.*2411A>C) c.4104A>C (p.Pro1368=) c.519A>C (p.Pro173=) c.4161A>C (p.Pro1387=) c.3978A>C (p.Pro1326=) n.5966A>C c.*2422A>C (n.*2422A>C) c.472A>C c.4026A>C (p.Pro1342=) c.436A>C c.3594A>C (p.Pro1198=) c.3990A>C (p.Pro1330=) c.2199A>C (p.Pro733=) c.4641A>C (p.Pro1547=) c.4515A>C (p.Pro1505=) c.4458A>C (p.Pro1486=) c.4185A>C (p.Pro1395=) c.4572A>C (p.Pro1524=) c.4506A>C (p.Pro1502=) c.4446A>C (p.Pro1482=) c.4332A>C (p.Pro1444=) c.4311A>C (p.Pro1437=) c.4176A>C (p.Pro1392=) c.4116A>C (p.Pro1372=) c.4050A>C (p.Pro1350=) c.4047A>C (p.Pro1349=) c.4038A>C (p.Pro1346=) c.3981A>C (p.Pro1327=) c.3864A>C (p.Pro1288=) | |
3 | g.77644747A>G | CA434435248 | ROBO2 | c.4173A>G (p.Pro1391=) c.4164A>G (p.Pro1388=) c.4059A>G (p.Pro1353=) c.4251A>G (p.Pro1417=) c.*921A>G (n.*921A>G) c.4263A>G (p.Pro1421=) c.4437A>G (p.Pro1479=) c.*2411A>G (n.*2411A>G) c.4104A>G (p.Pro1368=) c.519A>G (p.Pro173=) c.4161A>G (p.Pro1387=) c.3978A>G (p.Pro1326=) n.5966A>G c.*2422A>G (n.*2422A>G) c.472A>G c.4026A>G (p.Pro1342=) c.436A>G c.3594A>G (p.Pro1198=) c.3990A>G (p.Pro1330=) c.2199A>G (p.Pro733=) c.4641A>G (p.Pro1547=) c.4515A>G (p.Pro1505=) c.4458A>G (p.Pro1486=) c.4185A>G (p.Pro1395=) c.4572A>G (p.Pro1524=) c.4506A>G (p.Pro1502=) c.4446A>G (p.Pro1482=) c.4332A>G (p.Pro1444=) c.4311A>G (p.Pro1437=) c.4176A>G (p.Pro1392=) c.4116A>G (p.Pro1372=) c.4050A>G (p.Pro1350=) c.4047A>G (p.Pro1349=) c.4038A>G (p.Pro1346=) c.3981A>G (p.Pro1327=) c.3864A>G (p.Pro1288=) | |
3 | g.77644747A>T | CA434435249 | ROBO2 | c.4173A>T (p.Pro1391=) c.4164A>T (p.Pro1388=) c.4059A>T (p.Pro1353=) c.4251A>T (p.Pro1417=) c.*921A>T (n.*921A>T) c.4263A>T (p.Pro1421=) c.4437A>T (p.Pro1479=) c.*2411A>T (n.*2411A>T) c.4104A>T (p.Pro1368=) c.519A>T (p.Pro173=) c.4161A>T (p.Pro1387=) c.3978A>T (p.Pro1326=) n.5966A>T c.*2422A>T (n.*2422A>T) c.472A>T c.4026A>T (p.Pro1342=) c.436A>T c.3594A>T (p.Pro1198=) c.3990A>T (p.Pro1330=) c.2199A>T (p.Pro733=) c.4641A>T (p.Pro1547=) c.4515A>T (p.Pro1505=) c.4458A>T (p.Pro1486=) c.4185A>T (p.Pro1395=) c.4572A>T (p.Pro1524=) c.4506A>T (p.Pro1502=) c.4446A>T (p.Pro1482=) c.4332A>T (p.Pro1444=) c.4311A>T (p.Pro1437=) c.4176A>T (p.Pro1392=) c.4116A>T (p.Pro1372=) c.4050A>T (p.Pro1350=) c.4047A>T (p.Pro1349=) c.4038A>T (p.Pro1346=) c.3981A>T (p.Pro1327=) c.3864A>T (p.Pro1288=) | |
3 | g.77644748G>A | CA2497822 | ROBO2 | c.4174G>A (p.Gly1392Ser) c.4165G>A (p.Gly1389Ser) c.4060G>A (p.Gly1354Ser) c.4252G>A (p.Gly1418Ser) c.*922G>A (n.*922G>A) c.4264G>A (p.Gly1422Ser) c.4438G>A (p.Gly1480Ser) c.*2412G>A (n.*2412G>A) c.4105G>A (p.Gly1369Ser) c.520G>A (p.Gly174Ser) c.4162G>A (p.Gly1388Ser) c.3979G>A (p.Gly1327Ser) n.5967G>A c.*2423G>A (n.*2423G>A) c.473G>A c.4027G>A (p.Gly1343Ser) c.437G>A c.3595G>A (p.Gly1199Ser) c.3991G>A (p.Gly1331Ser) c.2200G>A (p.Gly734Ser) c.4642G>A (p.Gly1548Ser) c.4516G>A (p.Gly1506Ser) c.4459G>A (p.Gly1487Ser) c.4186G>A (p.Gly1396Ser) c.4573G>A (p.Gly1525Ser) c.4507G>A (p.Gly1503Ser) c.4447G>A (p.Gly1483Ser) c.4333G>A (p.Gly1445Ser) c.4312G>A (p.Gly1438Ser) c.4177G>A (p.Gly1393Ser) c.4117G>A (p.Gly1373Ser) c.4051G>A (p.Gly1351Ser) c.4048G>A (p.Gly1350Ser) c.4039G>A (p.Gly1347Ser) c.3982G>A (p.Gly1328Ser) c.3865G>A (p.Gly1289Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644748G>C | CA353533336 | ROBO2 | c.4174G>C (p.Gly1392Arg) c.4165G>C (p.Gly1389Arg) c.4060G>C (p.Gly1354Arg) c.4252G>C (p.Gly1418Arg) c.*922G>C (n.*922G>C) c.4264G>C (p.Gly1422Arg) c.4438G>C (p.Gly1480Arg) c.*2412G>C (n.*2412G>C) c.4105G>C (p.Gly1369Arg) c.520G>C (p.Gly174Arg) c.4162G>C (p.Gly1388Arg) c.3979G>C (p.Gly1327Arg) n.5967G>C c.*2423G>C (n.*2423G>C) c.473G>C c.4027G>C (p.Gly1343Arg) c.437G>C c.3595G>C (p.Gly1199Arg) c.3991G>C (p.Gly1331Arg) c.2200G>C (p.Gly734Arg) c.4642G>C (p.Gly1548Arg) c.4516G>C (p.Gly1506Arg) c.4459G>C (p.Gly1487Arg) c.4186G>C (p.Gly1396Arg) c.4573G>C (p.Gly1525Arg) c.4507G>C (p.Gly1503Arg) c.4447G>C (p.Gly1483Arg) c.4333G>C (p.Gly1445Arg) c.4312G>C (p.Gly1438Arg) c.4177G>C (p.Gly1393Arg) c.4117G>C (p.Gly1373Arg) c.4051G>C (p.Gly1351Arg) c.4048G>C (p.Gly1350Arg) c.4039G>C (p.Gly1347Arg) c.3982G>C (p.Gly1328Arg) c.3865G>C (p.Gly1289Arg) | COSMIC COSMIC |
3 | g.77644748G= | CA1376777933 | ROBO2 | c.4174G= (p.Gly1392=) c.4165G= (p.Gly1389=) c.4060G= (p.Gly1354=) c.4252G= (p.Gly1418=) c.*922G= (n.*922G=) c.4264G= (p.Gly1422=) c.4438G= (p.Gly1480=) c.*2412G= (n.*2412G=) c.4105G= (p.Gly1369=) c.520G= (p.Gly174=) c.4162G= (p.Gly1388=) c.3979G= (p.Gly1327=) n.5967G= c.*2423G= (n.*2423G=) c.473G= c.4027G= (p.Gly1343=) c.437G= c.3595G= (p.Gly1199=) c.3991G= (p.Gly1331=) c.2200G= (p.Gly734=) c.4642G= (p.Gly1548=) c.4516G= (p.Gly1506=) c.4459G= (p.Gly1487=) c.4186G= (p.Gly1396=) c.4573G= (p.Gly1525=) c.4507G= (p.Gly1503=) c.4447G= (p.Gly1483=) c.4333G= (p.Gly1445=) c.4312G= (p.Gly1438=) c.4177G= (p.Gly1393=) c.4117G= (p.Gly1373=) c.4051G= (p.Gly1351=) c.4048G= (p.Gly1350=) c.4039G= (p.Gly1347=) c.3982G= (p.Gly1328=) c.3865G= (p.Gly1289=) | |
3 | g.77644748G>T | CA353533334 | ROBO2 | c.4174G>T (p.Gly1392Cys) c.4165G>T (p.Gly1389Cys) c.4060G>T (p.Gly1354Cys) c.4252G>T (p.Gly1418Cys) c.*922G>T (n.*922G>T) c.4264G>T (p.Gly1422Cys) c.4438G>T (p.Gly1480Cys) c.*2412G>T (n.*2412G>T) c.4105G>T (p.Gly1369Cys) c.520G>T (p.Gly174Cys) c.4162G>T (p.Gly1388Cys) c.3979G>T (p.Gly1327Cys) n.5967G>T c.*2423G>T (n.*2423G>T) c.473G>T c.4027G>T (p.Gly1343Cys) c.437G>T c.3595G>T (p.Gly1199Cys) c.3991G>T (p.Gly1331Cys) c.2200G>T (p.Gly734Cys) c.4642G>T (p.Gly1548Cys) c.4516G>T (p.Gly1506Cys) c.4459G>T (p.Gly1487Cys) c.4186G>T (p.Gly1396Cys) c.4573G>T (p.Gly1525Cys) c.4507G>T (p.Gly1503Cys) c.4447G>T (p.Gly1483Cys) c.4333G>T (p.Gly1445Cys) c.4312G>T (p.Gly1438Cys) c.4177G>T (p.Gly1393Cys) c.4117G>T (p.Gly1373Cys) c.4051G>T (p.Gly1351Cys) c.4048G>T (p.Gly1350Cys) c.4039G>T (p.Gly1347Cys) c.3982G>T (p.Gly1328Cys) c.3865G>T (p.Gly1289Cys) | |
3 | g.77644749G>A | CA353533338 | ROBO2 | c.4175G>A (p.Gly1392Asp) c.4166G>A (p.Gly1389Asp) c.4061G>A (p.Gly1354Asp) c.4253G>A (p.Gly1418Asp) c.*923G>A (n.*923G>A) c.4265G>A (p.Gly1422Asp) c.4439G>A (p.Gly1480Asp) c.*2413G>A (n.*2413G>A) c.4106G>A (p.Gly1369Asp) c.521G>A (p.Gly174Asp) c.4163G>A (p.Gly1388Asp) c.3980G>A (p.Gly1327Asp) n.5968G>A c.*2424G>A (n.*2424G>A) c.474G>A c.4028G>A (p.Gly1343Asp) c.438G>A c.3596G>A (p.Gly1199Asp) c.3992G>A (p.Gly1331Asp) c.2201G>A (p.Gly734Asp) c.4643G>A (p.Gly1548Asp) c.4517G>A (p.Gly1506Asp) c.4460G>A (p.Gly1487Asp) c.4187G>A (p.Gly1396Asp) c.4574G>A (p.Gly1525Asp) c.4508G>A (p.Gly1503Asp) c.4448G>A (p.Gly1483Asp) c.4334G>A (p.Gly1445Asp) c.4313G>A (p.Gly1438Asp) c.4178G>A (p.Gly1393Asp) c.4118G>A (p.Gly1373Asp) c.4052G>A (p.Gly1351Asp) c.4049G>A (p.Gly1350Asp) c.4040G>A (p.Gly1347Asp) c.3983G>A (p.Gly1328Asp) c.3866G>A (p.Gly1289Asp) | |
3 | g.77644749G>C | CA353533340 | ROBO2 | c.4175G>C (p.Gly1392Ala) c.4166G>C (p.Gly1389Ala) c.4061G>C (p.Gly1354Ala) c.4253G>C (p.Gly1418Ala) c.*923G>C (n.*923G>C) c.4265G>C (p.Gly1422Ala) c.4439G>C (p.Gly1480Ala) c.*2413G>C (n.*2413G>C) c.4106G>C (p.Gly1369Ala) c.521G>C (p.Gly174Ala) c.4163G>C (p.Gly1388Ala) c.3980G>C (p.Gly1327Ala) n.5968G>C c.*2424G>C (n.*2424G>C) c.474G>C c.4028G>C (p.Gly1343Ala) c.438G>C c.3596G>C (p.Gly1199Ala) c.3992G>C (p.Gly1331Ala) c.2201G>C (p.Gly734Ala) c.4643G>C (p.Gly1548Ala) c.4517G>C (p.Gly1506Ala) c.4460G>C (p.Gly1487Ala) c.4187G>C (p.Gly1396Ala) c.4574G>C (p.Gly1525Ala) c.4508G>C (p.Gly1503Ala) c.4448G>C (p.Gly1483Ala) c.4334G>C (p.Gly1445Ala) c.4313G>C (p.Gly1438Ala) c.4178G>C (p.Gly1393Ala) c.4118G>C (p.Gly1373Ala) c.4052G>C (p.Gly1351Ala) c.4049G>C (p.Gly1350Ala) c.4040G>C (p.Gly1347Ala) c.3983G>C (p.Gly1328Ala) c.3866G>C (p.Gly1289Ala) | |
3 | g.77644749G>T | CA353533342 | ROBO2 | c.4175G>T (p.Gly1392Val) c.4166G>T (p.Gly1389Val) c.4061G>T (p.Gly1354Val) c.4253G>T (p.Gly1418Val) c.*923G>T (n.*923G>T) c.4265G>T (p.Gly1422Val) c.4439G>T (p.Gly1480Val) c.*2413G>T (n.*2413G>T) c.4106G>T (p.Gly1369Val) c.521G>T (p.Gly174Val) c.4163G>T (p.Gly1388Val) c.3980G>T (p.Gly1327Val) n.5968G>T c.*2424G>T (n.*2424G>T) c.474G>T c.4028G>T (p.Gly1343Val) c.438G>T c.3596G>T (p.Gly1199Val) c.3992G>T (p.Gly1331Val) c.2201G>T (p.Gly734Val) c.4643G>T (p.Gly1548Val) c.4517G>T (p.Gly1506Val) c.4460G>T (p.Gly1487Val) c.4187G>T (p.Gly1396Val) c.4574G>T (p.Gly1525Val) c.4508G>T (p.Gly1503Val) c.4448G>T (p.Gly1483Val) c.4334G>T (p.Gly1445Val) c.4313G>T (p.Gly1438Val) c.4178G>T (p.Gly1393Val) c.4118G>T (p.Gly1373Val) c.4052G>T (p.Gly1351Val) c.4049G>T (p.Gly1350Val) c.4040G>T (p.Gly1347Val) c.3983G>T (p.Gly1328Val) c.3866G>T (p.Gly1289Val) | |
3 | g.77644750T>A | CA434435250 | ROBO2 | c.4176T>A (p.Gly1392=) c.4167T>A (p.Gly1389=) c.4062T>A (p.Gly1354=) c.4254T>A (p.Gly1418=) c.*924T>A (n.*924T>A) c.4266T>A (p.Gly1422=) c.4440T>A (p.Gly1480=) c.*2414T>A (n.*2414T>A) c.4107T>A (p.Gly1369=) c.522T>A (p.Gly174=) c.4164T>A (p.Gly1388=) c.3981T>A (p.Gly1327=) n.5969T>A c.*2425T>A (n.*2425T>A) c.475T>A c.4029T>A (p.Gly1343=) c.439T>A c.3597T>A (p.Gly1199=) c.3993T>A (p.Gly1331=) c.2202T>A (p.Gly734=) c.4644T>A (p.Gly1548=) c.4518T>A (p.Gly1506=) c.4461T>A (p.Gly1487=) c.4188T>A (p.Gly1396=) c.4575T>A (p.Gly1525=) c.4509T>A (p.Gly1503=) c.4449T>A (p.Gly1483=) c.4335T>A (p.Gly1445=) c.4314T>A (p.Gly1438=) c.4179T>A (p.Gly1393=) c.4119T>A (p.Gly1373=) c.4053T>A (p.Gly1351=) c.4050T>A (p.Gly1350=) c.4041T>A (p.Gly1347=) c.3984T>A (p.Gly1328=) c.3867T>A (p.Gly1289=) | |
3 | g.77644750T>C | CA434435251 | ROBO2 | c.4176T>C (p.Gly1392=) c.4167T>C (p.Gly1389=) c.4062T>C (p.Gly1354=) c.4254T>C (p.Gly1418=) c.*924T>C (n.*924T>C) c.4266T>C (p.Gly1422=) c.4440T>C (p.Gly1480=) c.*2414T>C (n.*2414T>C) c.4107T>C (p.Gly1369=) c.522T>C (p.Gly174=) c.4164T>C (p.Gly1388=) c.3981T>C (p.Gly1327=) n.5969T>C c.*2425T>C (n.*2425T>C) c.475T>C c.4029T>C (p.Gly1343=) c.439T>C c.3597T>C (p.Gly1199=) c.3993T>C (p.Gly1331=) c.2202T>C (p.Gly734=) c.4644T>C (p.Gly1548=) c.4518T>C (p.Gly1506=) c.4461T>C (p.Gly1487=) c.4188T>C (p.Gly1396=) c.4575T>C (p.Gly1525=) c.4509T>C (p.Gly1503=) c.4449T>C (p.Gly1483=) c.4335T>C (p.Gly1445=) c.4314T>C (p.Gly1438=) c.4179T>C (p.Gly1393=) c.4119T>C (p.Gly1373=) c.4053T>C (p.Gly1351=) c.4050T>C (p.Gly1350=) c.4041T>C (p.Gly1347=) c.3984T>C (p.Gly1328=) c.3867T>C (p.Gly1289=) | |
3 | g.77644750T>G | CA434435252 | ROBO2 | c.4176T>G (p.Gly1392=) c.4167T>G (p.Gly1389=) c.4062T>G (p.Gly1354=) c.4254T>G (p.Gly1418=) c.*924T>G (n.*924T>G) c.4266T>G (p.Gly1422=) c.4440T>G (p.Gly1480=) c.*2414T>G (n.*2414T>G) c.4107T>G (p.Gly1369=) c.522T>G (p.Gly174=) c.4164T>G (p.Gly1388=) c.3981T>G (p.Gly1327=) n.5969T>G c.*2425T>G (n.*2425T>G) c.475T>G c.4029T>G (p.Gly1343=) c.439T>G c.3597T>G (p.Gly1199=) c.3993T>G (p.Gly1331=) c.2202T>G (p.Gly734=) c.4644T>G (p.Gly1548=) c.4518T>G (p.Gly1506=) c.4461T>G (p.Gly1487=) c.4188T>G (p.Gly1396=) c.4575T>G (p.Gly1525=) c.4509T>G (p.Gly1503=) c.4449T>G (p.Gly1483=) c.4335T>G (p.Gly1445=) c.4314T>G (p.Gly1438=) c.4179T>G (p.Gly1393=) c.4119T>G (p.Gly1373=) c.4053T>G (p.Gly1351=) c.4050T>G (p.Gly1350=) c.4041T>G (p.Gly1347=) c.3984T>G (p.Gly1328=) c.3867T>G (p.Gly1289=) | |
3 | g.77644751G>A | CA2497823 | ROBO2 | c.4177G>A (p.Gly1393Ser) c.4168G>A (p.Gly1390Ser) c.4063G>A (p.Gly1355Ser) c.4255G>A (p.Gly1419Ser) c.*925G>A (n.*925G>A) c.4267G>A (p.Gly1423Ser) c.4441G>A (p.Gly1481Ser) c.*2415G>A (n.*2415G>A) c.4108G>A (p.Gly1370Ser) c.523G>A (p.Gly175Ser) c.4165G>A (p.Gly1389Ser) c.3982G>A (p.Gly1328Ser) n.5970G>A c.*2426G>A (n.*2426G>A) c.476G>A c.4030G>A (p.Gly1344Ser) c.440G>A c.3598G>A (p.Gly1200Ser) c.3994G>A (p.Gly1332Ser) c.2203G>A (p.Gly735Ser) c.4645G>A (p.Gly1549Ser) c.4519G>A (p.Gly1507Ser) c.4462G>A (p.Gly1488Ser) c.4189G>A (p.Gly1397Ser) c.4576G>A (p.Gly1526Ser) c.4510G>A (p.Gly1504Ser) c.4450G>A (p.Gly1484Ser) c.4336G>A (p.Gly1446Ser) c.4315G>A (p.Gly1439Ser) c.4180G>A (p.Gly1394Ser) c.4120G>A (p.Gly1374Ser) c.4054G>A (p.Gly1352Ser) c.4051G>A (p.Gly1351Ser) c.4042G>A (p.Gly1348Ser) c.3985G>A (p.Gly1329Ser) c.3868G>A (p.Gly1290Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77644751G>C | CA353533345 | ROBO2 | c.4177G>C (p.Gly1393Arg) c.4168G>C (p.Gly1390Arg) c.4063G>C (p.Gly1355Arg) c.4255G>C (p.Gly1419Arg) c.*925G>C (n.*925G>C) c.4267G>C (p.Gly1423Arg) c.4441G>C (p.Gly1481Arg) c.*2415G>C (n.*2415G>C) c.4108G>C (p.Gly1370Arg) c.523G>C (p.Gly175Arg) c.4165G>C (p.Gly1389Arg) c.3982G>C (p.Gly1328Arg) n.5970G>C c.*2426G>C (n.*2426G>C) c.476G>C c.4030G>C (p.Gly1344Arg) c.440G>C c.3598G>C (p.Gly1200Arg) c.3994G>C (p.Gly1332Arg) c.2203G>C (p.Gly735Arg) c.4645G>C (p.Gly1549Arg) c.4519G>C (p.Gly1507Arg) c.4462G>C (p.Gly1488Arg) c.4189G>C (p.Gly1397Arg) c.4576G>C (p.Gly1526Arg) c.4510G>C (p.Gly1504Arg) c.4450G>C (p.Gly1484Arg) c.4336G>C (p.Gly1446Arg) c.4315G>C (p.Gly1439Arg) c.4180G>C (p.Gly1394Arg) c.4120G>C (p.Gly1374Arg) c.4054G>C (p.Gly1352Arg) c.4051G>C (p.Gly1351Arg) c.4042G>C (p.Gly1348Arg) c.3985G>C (p.Gly1329Arg) c.3868G>C (p.Gly1290Arg) | |
3 | g.77644751G= | CA1376777934 | ROBO2 | c.4177G= (p.Gly1393=) c.4168G= (p.Gly1390=) c.4063G= (p.Gly1355=) c.4255G= (p.Gly1419=) c.*925G= (n.*925G=) c.4267G= (p.Gly1423=) c.4441G= (p.Gly1481=) c.*2415G= (n.*2415G=) c.4108G= (p.Gly1370=) c.523G= (p.Gly175=) c.4165G= (p.Gly1389=) c.3982G= (p.Gly1328=) n.5970G= c.*2426G= (n.*2426G=) c.476G= c.4030G= (p.Gly1344=) c.440G= c.3598G= (p.Gly1200=) c.3994G= (p.Gly1332=) c.2203G= (p.Gly735=) c.4645G= (p.Gly1549=) c.4519G= (p.Gly1507=) c.4462G= (p.Gly1488=) c.4189G= (p.Gly1397=) c.4576G= (p.Gly1526=) c.4510G= (p.Gly1504=) c.4450G= (p.Gly1484=) c.4336G= (p.Gly1446=) c.4315G= (p.Gly1439=) c.4180G= (p.Gly1394=) c.4120G= (p.Gly1374=) c.4054G= (p.Gly1352=) c.4051G= (p.Gly1351=) c.4042G= (p.Gly1348=) c.3985G= (p.Gly1329=) c.3868G= (p.Gly1290=) | |
3 | g.77644751G>T | CA353533347 | ROBO2 | c.4177G>T (p.Gly1393Cys) c.4168G>T (p.Gly1390Cys) c.4063G>T (p.Gly1355Cys) c.4255G>T (p.Gly1419Cys) c.*925G>T (n.*925G>T) c.4267G>T (p.Gly1423Cys) c.4441G>T (p.Gly1481Cys) c.*2415G>T (n.*2415G>T) c.4108G>T (p.Gly1370Cys) c.523G>T (p.Gly175Cys) c.4165G>T (p.Gly1389Cys) c.3982G>T (p.Gly1328Cys) n.5970G>T c.*2426G>T (n.*2426G>T) c.476G>T c.4030G>T (p.Gly1344Cys) c.440G>T c.3598G>T (p.Gly1200Cys) c.3994G>T (p.Gly1332Cys) c.2203G>T (p.Gly735Cys) c.4645G>T (p.Gly1549Cys) c.4519G>T (p.Gly1507Cys) c.4462G>T (p.Gly1488Cys) c.4189G>T (p.Gly1397Cys) c.4576G>T (p.Gly1526Cys) c.4510G>T (p.Gly1504Cys) c.4450G>T (p.Gly1484Cys) c.4336G>T (p.Gly1446Cys) c.4315G>T (p.Gly1439Cys) c.4180G>T (p.Gly1394Cys) c.4120G>T (p.Gly1374Cys) c.4054G>T (p.Gly1352Cys) c.4051G>T (p.Gly1351Cys) c.4042G>T (p.Gly1348Cys) c.3985G>T (p.Gly1329Cys) c.3868G>T (p.Gly1290Cys) | |
3 | g.77644752G>A | CA353533349 | ROBO2 | c.4178G>A (p.Gly1393Asp) c.4169G>A (p.Gly1390Asp) c.4064G>A (p.Gly1355Asp) c.4256G>A (p.Gly1419Asp) c.*926G>A (n.*926G>A) c.4268G>A (p.Gly1423Asp) c.4442G>A (p.Gly1481Asp) c.*2416G>A (n.*2416G>A) c.4109G>A (p.Gly1370Asp) c.524G>A (p.Gly175Asp) c.4166G>A (p.Gly1389Asp) c.3983G>A (p.Gly1328Asp) n.5971G>A c.*2427G>A (n.*2427G>A) c.477G>A c.4031G>A (p.Gly1344Asp) c.441G>A c.3599G>A (p.Gly1200Asp) c.3995G>A (p.Gly1332Asp) c.2204G>A (p.Gly735Asp) c.4646G>A (p.Gly1549Asp) c.4520G>A (p.Gly1507Asp) c.4463G>A (p.Gly1488Asp) c.4190G>A (p.Gly1397Asp) c.4577G>A (p.Gly1526Asp) c.4511G>A (p.Gly1504Asp) c.4451G>A (p.Gly1484Asp) c.4337G>A (p.Gly1446Asp) c.4316G>A (p.Gly1439Asp) c.4181G>A (p.Gly1394Asp) c.4121G>A (p.Gly1374Asp) c.4055G>A (p.Gly1352Asp) c.4052G>A (p.Gly1351Asp) c.4043G>A (p.Gly1348Asp) c.3986G>A (p.Gly1329Asp) c.3869G>A (p.Gly1290Asp) | |
3 | g.77644752G>C | CA353533350 | ROBO2 | c.4178G>C (p.Gly1393Ala) c.4169G>C (p.Gly1390Ala) c.4064G>C (p.Gly1355Ala) c.4256G>C (p.Gly1419Ala) c.*926G>C (n.*926G>C) c.4268G>C (p.Gly1423Ala) c.4442G>C (p.Gly1481Ala) c.*2416G>C (n.*2416G>C) c.4109G>C (p.Gly1370Ala) c.524G>C (p.Gly175Ala) c.4166G>C (p.Gly1389Ala) c.3983G>C (p.Gly1328Ala) n.5971G>C c.*2427G>C (n.*2427G>C) c.477G>C c.4031G>C (p.Gly1344Ala) c.441G>C c.3599G>C (p.Gly1200Ala) c.3995G>C (p.Gly1332Ala) c.2204G>C (p.Gly735Ala) c.4646G>C (p.Gly1549Ala) c.4520G>C (p.Gly1507Ala) c.4463G>C (p.Gly1488Ala) c.4190G>C (p.Gly1397Ala) c.4577G>C (p.Gly1526Ala) c.4511G>C (p.Gly1504Ala) c.4451G>C (p.Gly1484Ala) c.4337G>C (p.Gly1446Ala) c.4316G>C (p.Gly1439Ala) c.4181G>C (p.Gly1394Ala) c.4121G>C (p.Gly1374Ala) c.4055G>C (p.Gly1352Ala) c.4052G>C (p.Gly1351Ala) c.4043G>C (p.Gly1348Ala) c.3986G>C (p.Gly1329Ala) c.3869G>C (p.Gly1290Ala) | |
3 | g.77644752G>T | CA353533352 | ROBO2 | c.4178G>T (p.Gly1393Val) c.4169G>T (p.Gly1390Val) c.4064G>T (p.Gly1355Val) c.4256G>T (p.Gly1419Val) c.*926G>T (n.*926G>T) c.4268G>T (p.Gly1423Val) c.4442G>T (p.Gly1481Val) c.*2416G>T (n.*2416G>T) c.4109G>T (p.Gly1370Val) c.524G>T (p.Gly175Val) c.4166G>T (p.Gly1389Val) c.3983G>T (p.Gly1328Val) n.5971G>T c.*2427G>T (n.*2427G>T) c.477G>T c.4031G>T (p.Gly1344Val) c.441G>T c.3599G>T (p.Gly1200Val) c.3995G>T (p.Gly1332Val) c.2204G>T (p.Gly735Val) c.4646G>T (p.Gly1549Val) c.4520G>T (p.Gly1507Val) c.4463G>T (p.Gly1488Val) c.4190G>T (p.Gly1397Val) c.4577G>T (p.Gly1526Val) c.4511G>T (p.Gly1504Val) c.4451G>T (p.Gly1484Val) c.4337G>T (p.Gly1446Val) c.4316G>T (p.Gly1439Val) c.4181G>T (p.Gly1394Val) c.4121G>T (p.Gly1374Val) c.4055G>T (p.Gly1352Val) c.4052G>T (p.Gly1351Val) c.4043G>T (p.Gly1348Val) c.3986G>T (p.Gly1329Val) c.3869G>T (p.Gly1290Val) | |
3 | g.77644753C>A | CA434435254 | ROBO2 | c.4179C>A (p.Gly1393=) c.4170C>A (p.Gly1390=) c.4065C>A (p.Gly1355=) c.4257C>A (p.Gly1419=) c.*927C>A (n.*927C>A) c.4269C>A (p.Gly1423=) c.4443C>A (p.Gly1481=) c.*2417C>A (n.*2417C>A) c.4110C>A (p.Gly1370=) c.525C>A (p.Gly175=) c.4167C>A (p.Gly1389=) c.3984C>A (p.Gly1328=) n.5972C>A c.*2428C>A (n.*2428C>A) c.478C>A c.4032C>A (p.Gly1344=) c.442C>A c.3600C>A (p.Gly1200=) c.3996C>A (p.Gly1332=) c.2205C>A (p.Gly735=) c.4647C>A (p.Gly1549=) c.4521C>A (p.Gly1507=) c.4464C>A (p.Gly1488=) c.4191C>A (p.Gly1397=) c.4578C>A (p.Gly1526=) c.4512C>A (p.Gly1504=) c.4452C>A (p.Gly1484=) c.4338C>A (p.Gly1446=) c.4317C>A (p.Gly1439=) c.4182C>A (p.Gly1394=) c.4122C>A (p.Gly1374=) c.4056C>A (p.Gly1352=) c.4053C>A (p.Gly1351=) c.4044C>A (p.Gly1348=) c.3987C>A (p.Gly1329=) c.3870C>A (p.Gly1290=) | |
3 | g.77644753C>G | CA434435255 | ROBO2 | c.4179C>G (p.Gly1393=) c.4170C>G (p.Gly1390=) c.4065C>G (p.Gly1355=) c.4257C>G (p.Gly1419=) c.*927C>G (n.*927C>G) c.4269C>G (p.Gly1423=) c.4443C>G (p.Gly1481=) c.*2417C>G (n.*2417C>G) c.4110C>G (p.Gly1370=) c.525C>G (p.Gly175=) c.4167C>G (p.Gly1389=) c.3984C>G (p.Gly1328=) n.5972C>G c.*2428C>G (n.*2428C>G) c.478C>G c.4032C>G (p.Gly1344=) c.442C>G c.3600C>G (p.Gly1200=) c.3996C>G (p.Gly1332=) c.2205C>G (p.Gly735=) c.4647C>G (p.Gly1549=) c.4521C>G (p.Gly1507=) c.4464C>G (p.Gly1488=) c.4191C>G (p.Gly1397=) c.4578C>G (p.Gly1526=) c.4512C>G (p.Gly1504=) c.4452C>G (p.Gly1484=) c.4338C>G (p.Gly1446=) c.4317C>G (p.Gly1439=) c.4182C>G (p.Gly1394=) c.4122C>G (p.Gly1374=) c.4056C>G (p.Gly1352=) c.4053C>G (p.Gly1351=) c.4044C>G (p.Gly1348=) c.3987C>G (p.Gly1329=) c.3870C>G (p.Gly1290=) | |
3 | g.77644753C>T | CA434435256 | ROBO2 | c.4179C>T (p.Gly1393=) c.4170C>T (p.Gly1390=) c.4065C>T (p.Gly1355=) c.4257C>T (p.Gly1419=) c.*927C>T (n.*927C>T) c.4269C>T (p.Gly1423=) c.4443C>T (p.Gly1481=) c.*2417C>T (n.*2417C>T) c.4110C>T (p.Gly1370=) c.525C>T (p.Gly175=) c.4167C>T (p.Gly1389=) c.3984C>T (p.Gly1328=) n.5972C>T c.*2428C>T (n.*2428C>T) c.478C>T c.4032C>T (p.Gly1344=) c.442C>T c.3600C>T (p.Gly1200=) c.3996C>T (p.Gly1332=) c.2205C>T (p.Gly735=) c.4647C>T (p.Gly1549=) c.4521C>T (p.Gly1507=) c.4464C>T (p.Gly1488=) c.4191C>T (p.Gly1397=) c.4578C>T (p.Gly1526=) c.4512C>T (p.Gly1504=) c.4452C>T (p.Gly1484=) c.4338C>T (p.Gly1446=) c.4317C>T (p.Gly1439=) c.4182C>T (p.Gly1394=) c.4122C>T (p.Gly1374=) c.4056C>T (p.Gly1352=) c.4053C>T (p.Gly1351=) c.4044C>T (p.Gly1348=) c.3987C>T (p.Gly1329=) c.3870C>T (p.Gly1290=) | |
3 | g.77644754C>A | CA353533354 | ROBO2 | c.4180C>A (p.His1394Asn) c.4171C>A (p.His1391Asn) c.4066C>A (p.His1356Asn) c.4258C>A (p.His1420Asn) c.*928C>A (n.*928C>A) c.4270C>A (p.His1424Asn) c.4444C>A (p.His1482Asn) c.*2418C>A (n.*2418C>A) c.4111C>A (p.His1371Asn) c.526C>A (p.His176Asn) c.4168C>A (p.His1390Asn) c.3985C>A (p.His1329Asn) n.5973C>A c.*2429C>A (n.*2429C>A) c.479C>A c.4033C>A (p.His1345Asn) c.443C>A c.3601C>A (p.His1201Asn) c.3997C>A (p.His1333Asn) c.2206C>A (p.His736Asn) c.4648C>A (p.His1550Asn) c.4522C>A (p.His1508Asn) c.4465C>A (p.His1489Asn) c.4192C>A (p.His1398Asn) c.4579C>A (p.His1527Asn) c.4513C>A (p.His1505Asn) c.4453C>A (p.His1485Asn) c.4339C>A (p.His1447Asn) c.4318C>A (p.His1440Asn) c.4183C>A (p.His1395Asn) c.4123C>A (p.His1375Asn) c.4057C>A (p.His1353Asn) c.4054C>A (p.His1352Asn) c.4045C>A (p.His1349Asn) c.3988C>A (p.His1330Asn) c.3871C>A (p.His1291Asn) | |
3 | g.77644754C>G | CA353533356 | ROBO2 | c.4180C>G (p.His1394Asp) c.4171C>G (p.His1391Asp) c.4066C>G (p.His1356Asp) c.4258C>G (p.His1420Asp) c.*928C>G (n.*928C>G) c.4270C>G (p.His1424Asp) c.4444C>G (p.His1482Asp) c.*2418C>G (n.*2418C>G) c.4111C>G (p.His1371Asp) c.526C>G (p.His176Asp) c.4168C>G (p.His1390Asp) c.3985C>G (p.His1329Asp) n.5973C>G c.*2429C>G (n.*2429C>G) c.479C>G c.4033C>G (p.His1345Asp) c.443C>G c.3601C>G (p.His1201Asp) c.3997C>G (p.His1333Asp) c.2206C>G (p.His736Asp) c.4648C>G (p.His1550Asp) c.4522C>G (p.His1508Asp) c.4465C>G (p.His1489Asp) c.4192C>G (p.His1398Asp) c.4579C>G (p.His1527Asp) c.4513C>G (p.His1505Asp) c.4453C>G (p.His1485Asp) c.4339C>G (p.His1447Asp) c.4318C>G (p.His1440Asp) c.4183C>G (p.His1395Asp) c.4123C>G (p.His1375Asp) c.4057C>G (p.His1353Asp) c.4054C>G (p.His1352Asp) c.4045C>G (p.His1349Asp) c.3988C>G (p.His1330Asp) c.3871C>G (p.His1291Asp) | |
3 | g.77644754C>T | CA353533357 | ROBO2 | c.4180C>T (p.His1394Tyr) c.4171C>T (p.His1391Tyr) c.4066C>T (p.His1356Tyr) c.4258C>T (p.His1420Tyr) c.*928C>T (n.*928C>T) c.4270C>T (p.His1424Tyr) c.4444C>T (p.His1482Tyr) c.*2418C>T (n.*2418C>T) c.4111C>T (p.His1371Tyr) c.526C>T (p.His176Tyr) c.4168C>T (p.His1390Tyr) c.3985C>T (p.His1329Tyr) n.5973C>T c.*2429C>T (n.*2429C>T) c.479C>T c.4033C>T (p.His1345Tyr) c.443C>T c.3601C>T (p.His1201Tyr) c.3997C>T (p.His1333Tyr) c.2206C>T (p.His736Tyr) c.4648C>T (p.His1550Tyr) c.4522C>T (p.His1508Tyr) c.4465C>T (p.His1489Tyr) c.4192C>T (p.His1398Tyr) c.4579C>T (p.His1527Tyr) c.4513C>T (p.His1505Tyr) c.4453C>T (p.His1485Tyr) c.4339C>T (p.His1447Tyr) c.4318C>T (p.His1440Tyr) c.4183C>T (p.His1395Tyr) c.4123C>T (p.His1375Tyr) c.4057C>T (p.His1353Tyr) c.4054C>T (p.His1352Tyr) c.4045C>T (p.His1349Tyr) c.3988C>T (p.His1330Tyr) c.3871C>T (p.His1291Tyr) | |
3 | g.77644755A>C | CA353533362 | ROBO2 | c.4181A>C (p.His1394Pro) c.4172A>C (p.His1391Pro) c.4067A>C (p.His1356Pro) c.4259A>C (p.His1420Pro) c.*929A>C (n.*929A>C) c.4271A>C (p.His1424Pro) c.4445A>C (p.His1482Pro) c.*2419A>C (n.*2419A>C) c.4112A>C (p.His1371Pro) c.527A>C (p.His176Pro) c.4169A>C (p.His1390Pro) c.3986A>C (p.His1329Pro) n.5974A>C c.*2430A>C (n.*2430A>C) c.480A>C c.4034A>C (p.His1345Pro) c.444A>C c.3602A>C (p.His1201Pro) c.3998A>C (p.His1333Pro) c.2207A>C (p.His736Pro) c.4649A>C (p.His1550Pro) c.4523A>C (p.His1508Pro) c.4466A>C (p.His1489Pro) c.4193A>C (p.His1398Pro) c.4580A>C (p.His1527Pro) c.4514A>C (p.His1505Pro) c.4454A>C (p.His1485Pro) c.4340A>C (p.His1447Pro) c.4319A>C (p.His1440Pro) c.4184A>C (p.His1395Pro) c.4124A>C (p.His1375Pro) c.4058A>C (p.His1353Pro) c.4055A>C (p.His1352Pro) c.4046A>C (p.His1349Pro) c.3989A>C (p.His1330Pro) c.3872A>C (p.His1291Pro) | |
3 | g.77644755A>G | CA353533359 | ROBO2 | c.4181A>G (p.His1394Arg) c.4172A>G (p.His1391Arg) c.4067A>G (p.His1356Arg) c.4259A>G (p.His1420Arg) c.*929A>G (n.*929A>G) c.4271A>G (p.His1424Arg) c.4445A>G (p.His1482Arg) c.*2419A>G (n.*2419A>G) c.4112A>G (p.His1371Arg) c.527A>G (p.His176Arg) c.4169A>G (p.His1390Arg) c.3986A>G (p.His1329Arg) n.5974A>G c.*2430A>G (n.*2430A>G) c.480A>G c.4034A>G (p.His1345Arg) c.444A>G c.3602A>G (p.His1201Arg) c.3998A>G (p.His1333Arg) c.2207A>G (p.His736Arg) c.4649A>G (p.His1550Arg) c.4523A>G (p.His1508Arg) c.4466A>G (p.His1489Arg) c.4193A>G (p.His1398Arg) c.4580A>G (p.His1527Arg) c.4514A>G (p.His1505Arg) c.4454A>G (p.His1485Arg) c.4340A>G (p.His1447Arg) c.4319A>G (p.His1440Arg) c.4184A>G (p.His1395Arg) c.4124A>G (p.His1375Arg) c.4058A>G (p.His1353Arg) c.4055A>G (p.His1352Arg) c.4046A>G (p.His1349Arg) c.3989A>G (p.His1330Arg) c.3872A>G (p.His1291Arg) | |
3 | g.77644755A>T | CA353533361 | ROBO2 | c.4181A>T (p.His1394Leu) c.4172A>T (p.His1391Leu) c.4067A>T (p.His1356Leu) c.4259A>T (p.His1420Leu) c.*929A>T (n.*929A>T) c.4271A>T (p.His1424Leu) c.4445A>T (p.His1482Leu) c.*2419A>T (n.*2419A>T) c.4112A>T (p.His1371Leu) c.527A>T (p.His176Leu) c.4169A>T (p.His1390Leu) c.3986A>T (p.His1329Leu) n.5974A>T c.*2430A>T (n.*2430A>T) c.480A>T c.4034A>T (p.His1345Leu) c.444A>T c.3602A>T (p.His1201Leu) c.3998A>T (p.His1333Leu) c.2207A>T (p.His736Leu) c.4649A>T (p.His1550Leu) c.4523A>T (p.His1508Leu) c.4466A>T (p.His1489Leu) c.4193A>T (p.His1398Leu) c.4580A>T (p.His1527Leu) c.4514A>T (p.His1505Leu) c.4454A>T (p.His1485Leu) c.4340A>T (p.His1447Leu) c.4319A>T (p.His1440Leu) c.4184A>T (p.His1395Leu) c.4124A>T (p.His1375Leu) c.4058A>T (p.His1353Leu) c.4055A>T (p.His1352Leu) c.4046A>T (p.His1349Leu) c.3989A>T (p.His1330Leu) c.3872A>T (p.His1291Leu) | |
3 | g.77644756C>A | CA353533364 | ROBO2 | c.4182C>A (p.His1394Gln) c.4173C>A (p.His1391Gln) c.4068C>A (p.His1356Gln) c.4260C>A (p.His1420Gln) c.*930C>A (n.*930C>A) c.4272C>A (p.His1424Gln) c.4446C>A (p.His1482Gln) c.*2420C>A (n.*2420C>A) c.4113C>A (p.His1371Gln) c.528C>A (p.His176Gln) c.4170C>A (p.His1390Gln) c.3987C>A (p.His1329Gln) n.5975C>A c.*2431C>A (n.*2431C>A) c.481C>A c.4035C>A (p.His1345Gln) c.445C>A c.3603C>A (p.His1201Gln) c.3999C>A (p.His1333Gln) c.2208C>A (p.His736Gln) c.4650C>A (p.His1550Gln) c.4524C>A (p.His1508Gln) c.4467C>A (p.His1489Gln) c.4194C>A (p.His1398Gln) c.4581C>A (p.His1527Gln) c.4515C>A (p.His1505Gln) c.4455C>A (p.His1485Gln) c.4341C>A (p.His1447Gln) c.4320C>A (p.His1440Gln) c.4185C>A (p.His1395Gln) c.4125C>A (p.His1375Gln) c.4059C>A (p.His1353Gln) c.4056C>A (p.His1352Gln) c.4047C>A (p.His1349Gln) c.3990C>A (p.His1330Gln) c.3873C>A (p.His1291Gln) | |
3 | g.77644756C>G | CA353533366 | ROBO2 | c.4182C>G (p.His1394Gln) c.4173C>G (p.His1391Gln) c.4068C>G (p.His1356Gln) c.4260C>G (p.His1420Gln) c.*930C>G (n.*930C>G) c.4272C>G (p.His1424Gln) c.4446C>G (p.His1482Gln) c.*2420C>G (n.*2420C>G) c.4113C>G (p.His1371Gln) c.528C>G (p.His176Gln) c.4170C>G (p.His1390Gln) c.3987C>G (p.His1329Gln) n.5975C>G c.*2431C>G (n.*2431C>G) c.481C>G c.4035C>G (p.His1345Gln) c.445C>G c.3603C>G (p.His1201Gln) c.3999C>G (p.His1333Gln) c.2208C>G (p.His736Gln) c.4650C>G (p.His1550Gln) c.4524C>G (p.His1508Gln) c.4467C>G (p.His1489Gln) c.4194C>G (p.His1398Gln) c.4581C>G (p.His1527Gln) c.4515C>G (p.His1505Gln) c.4455C>G (p.His1485Gln) c.4341C>G (p.His1447Gln) c.4320C>G (p.His1440Gln) c.4185C>G (p.His1395Gln) c.4125C>G (p.His1375Gln) c.4059C>G (p.His1353Gln) c.4056C>G (p.His1352Gln) c.4047C>G (p.His1349Gln) c.3990C>G (p.His1330Gln) c.3873C>G (p.His1291Gln) | |
3 | g.77644756C>T | CA434435257 | ROBO2 | c.4182C>T (p.His1394=) c.4173C>T (p.His1391=) c.4068C>T (p.His1356=) c.4260C>T (p.His1420=) c.*930C>T (n.*930C>T) c.4272C>T (p.His1424=) c.4446C>T (p.His1482=) c.*2420C>T (n.*2420C>T) c.4113C>T (p.His1371=) c.528C>T (p.His176=) c.4170C>T (p.His1390=) c.3987C>T (p.His1329=) n.5975C>T c.*2431C>T (n.*2431C>T) c.481C>T c.4035C>T (p.His1345=) c.445C>T c.3603C>T (p.His1201=) c.3999C>T (p.His1333=) c.2208C>T (p.His736=) c.4650C>T (p.His1550=) c.4524C>T (p.His1508=) c.4467C>T (p.His1489=) c.4194C>T (p.His1398=) c.4581C>T (p.His1527=) c.4515C>T (p.His1505=) c.4455C>T (p.His1485=) c.4341C>T (p.His1447=) c.4320C>T (p.His1440=) c.4185C>T (p.His1395=) c.4125C>T (p.His1375=) c.4059C>T (p.His1353=) c.4056C>T (p.His1352=) c.4047C>T (p.His1349=) c.3990C>T (p.His1330=) c.3873C>T (p.His1291=) | |
3 | g.77644757A>C | CA353533368 | ROBO2 | c.4183A>C (p.Ser1395Arg) c.4174A>C (p.Ser1392Arg) c.4069A>C (p.Ser1357Arg) c.4261A>C (p.Ser1421Arg) c.*931A>C (n.*931A>C) c.4273A>C (p.Ser1425Arg) c.4447A>C (p.Ser1483Arg) c.*2421A>C (n.*2421A>C) c.4114A>C (p.Ser1372Arg) c.529A>C (p.Ser177Arg) c.4171A>C (p.Ser1391Arg) c.3988A>C (p.Ser1330Arg) n.5976A>C c.*2432A>C (n.*2432A>C) c.482A>C c.4036A>C (p.Ser1346Arg) c.446A>C c.3604A>C (p.Ser1202Arg) c.4000A>C (p.Ser1334Arg) c.2209A>C (p.Ser737Arg) c.4651A>C (p.Ser1551Arg) c.4525A>C (p.Ser1509Arg) c.4468A>C (p.Ser1490Arg) c.4195A>C (p.Ser1399Arg) c.4582A>C (p.Ser1528Arg) c.4516A>C (p.Ser1506Arg) c.4456A>C (p.Ser1486Arg) c.4342A>C (p.Ser1448Arg) c.4321A>C (p.Ser1441Arg) c.4186A>C (p.Ser1396Arg) c.4126A>C (p.Ser1376Arg) c.4060A>C (p.Ser1354Arg) c.4057A>C (p.Ser1353Arg) c.4048A>C (p.Ser1350Arg) c.3991A>C (p.Ser1331Arg) c.3874A>C (p.Ser1292Arg) | |
3 | g.77644757A>G | CA353533370 | ROBO2 | c.4183A>G (p.Ser1395Gly) c.4174A>G (p.Ser1392Gly) c.4069A>G (p.Ser1357Gly) c.4261A>G (p.Ser1421Gly) c.*931A>G (n.*931A>G) c.4273A>G (p.Ser1425Gly) c.4447A>G (p.Ser1483Gly) c.*2421A>G (n.*2421A>G) c.4114A>G (p.Ser1372Gly) c.529A>G (p.Ser177Gly) c.4171A>G (p.Ser1391Gly) c.3988A>G (p.Ser1330Gly) n.5976A>G c.*2432A>G (n.*2432A>G) c.482A>G c.4036A>G (p.Ser1346Gly) c.446A>G c.3604A>G (p.Ser1202Gly) c.4000A>G (p.Ser1334Gly) c.2209A>G (p.Ser737Gly) c.4651A>G (p.Ser1551Gly) c.4525A>G (p.Ser1509Gly) c.4468A>G (p.Ser1490Gly) c.4195A>G (p.Ser1399Gly) c.4582A>G (p.Ser1528Gly) c.4516A>G (p.Ser1506Gly) c.4456A>G (p.Ser1486Gly) c.4342A>G (p.Ser1448Gly) c.4321A>G (p.Ser1441Gly) c.4186A>G (p.Ser1396Gly) c.4126A>G (p.Ser1376Gly) c.4060A>G (p.Ser1354Gly) c.4057A>G (p.Ser1353Gly) c.4048A>G (p.Ser1350Gly) c.3991A>G (p.Ser1331Gly) c.3874A>G (p.Ser1292Gly) | |
3 | g.77644757A>T | CA353533372 | ROBO2 | c.4183A>T (p.Ser1395Cys) c.4174A>T (p.Ser1392Cys) c.4069A>T (p.Ser1357Cys) c.4261A>T (p.Ser1421Cys) c.*931A>T (n.*931A>T) c.4273A>T (p.Ser1425Cys) c.4447A>T (p.Ser1483Cys) c.*2421A>T (n.*2421A>T) c.4114A>T (p.Ser1372Cys) c.529A>T (p.Ser177Cys) c.4171A>T (p.Ser1391Cys) c.3988A>T (p.Ser1330Cys) n.5976A>T c.*2432A>T (n.*2432A>T) c.482A>T c.4036A>T (p.Ser1346Cys) c.446A>T c.3604A>T (p.Ser1202Cys) c.4000A>T (p.Ser1334Cys) c.2209A>T (p.Ser737Cys) c.4651A>T (p.Ser1551Cys) c.4525A>T (p.Ser1509Cys) c.4468A>T (p.Ser1490Cys) c.4195A>T (p.Ser1399Cys) c.4582A>T (p.Ser1528Cys) c.4516A>T (p.Ser1506Cys) c.4456A>T (p.Ser1486Cys) c.4342A>T (p.Ser1448Cys) c.4321A>T (p.Ser1441Cys) c.4186A>T (p.Ser1396Cys) c.4126A>T (p.Ser1376Cys) c.4060A>T (p.Ser1354Cys) c.4057A>T (p.Ser1353Cys) c.4048A>T (p.Ser1350Cys) c.3991A>T (p.Ser1331Cys) c.3874A>T (p.Ser1292Cys) | |
3 | g.77644758G>A | CA353533374 | ROBO2 | c.4184G>A (p.Ser1395Asn) c.4175G>A (p.Ser1392Asn) c.4070G>A (p.Ser1357Asn) c.4262G>A (p.Ser1421Asn) c.*932G>A (n.*932G>A) c.4274G>A (p.Ser1425Asn) c.4448G>A (p.Ser1483Asn) c.*2422G>A (n.*2422G>A) c.4115G>A (p.Ser1372Asn) c.530G>A (p.Ser177Asn) c.4172G>A (p.Ser1391Asn) c.3989G>A (p.Ser1330Asn) n.5977G>A c.*2433G>A (n.*2433G>A) c.483G>A c.4037G>A (p.Ser1346Asn) c.447G>A c.3605G>A (p.Ser1202Asn) c.4001G>A (p.Ser1334Asn) c.2210G>A (p.Ser737Asn) c.4652G>A (p.Ser1551Asn) c.4526G>A (p.Ser1509Asn) c.4469G>A (p.Ser1490Asn) c.4196G>A (p.Ser1399Asn) c.4583G>A (p.Ser1528Asn) c.4517G>A (p.Ser1506Asn) c.4457G>A (p.Ser1486Asn) c.4343G>A (p.Ser1448Asn) c.4322G>A (p.Ser1441Asn) c.4187G>A (p.Ser1396Asn) c.4127G>A (p.Ser1376Asn) c.4061G>A (p.Ser1354Asn) c.4058G>A (p.Ser1353Asn) c.4049G>A (p.Ser1350Asn) c.3992G>A (p.Ser1331Asn) c.3875G>A (p.Ser1292Asn) | gnomAD v3 gnomAD v4 |
3 | g.77644758G>C | CA353533376 | ROBO2 | c.4184G>C (p.Ser1395Thr) c.4175G>C (p.Ser1392Thr) c.4070G>C (p.Ser1357Thr) c.4262G>C (p.Ser1421Thr) c.*932G>C (n.*932G>C) c.4274G>C (p.Ser1425Thr) c.4448G>C (p.Ser1483Thr) c.*2422G>C (n.*2422G>C) c.4115G>C (p.Ser1372Thr) c.530G>C (p.Ser177Thr) c.4172G>C (p.Ser1391Thr) c.3989G>C (p.Ser1330Thr) n.5977G>C c.*2433G>C (n.*2433G>C) c.483G>C c.4037G>C (p.Ser1346Thr) c.447G>C c.3605G>C (p.Ser1202Thr) c.4001G>C (p.Ser1334Thr) c.2210G>C (p.Ser737Thr) c.4652G>C (p.Ser1551Thr) c.4526G>C (p.Ser1509Thr) c.4469G>C (p.Ser1490Thr) c.4196G>C (p.Ser1399Thr) c.4583G>C (p.Ser1528Thr) c.4517G>C (p.Ser1506Thr) c.4457G>C (p.Ser1486Thr) c.4343G>C (p.Ser1448Thr) c.4322G>C (p.Ser1441Thr) c.4187G>C (p.Ser1396Thr) c.4127G>C (p.Ser1376Thr) c.4061G>C (p.Ser1354Thr) c.4058G>C (p.Ser1353Thr) c.4049G>C (p.Ser1350Thr) c.3992G>C (p.Ser1331Thr) c.3875G>C (p.Ser1292Thr) | gnomAD v4 |
3 | g.77644758G>T | CA353533378 | ROBO2 | c.4184G>T (p.Ser1395Ile) c.4175G>T (p.Ser1392Ile) c.4070G>T (p.Ser1357Ile) c.4262G>T (p.Ser1421Ile) c.*932G>T (n.*932G>T) c.4274G>T (p.Ser1425Ile) c.4448G>T (p.Ser1483Ile) c.*2422G>T (n.*2422G>T) c.4115G>T (p.Ser1372Ile) c.530G>T (p.Ser177Ile) c.4172G>T (p.Ser1391Ile) c.3989G>T (p.Ser1330Ile) n.5977G>T c.*2433G>T (n.*2433G>T) c.483G>T c.4037G>T (p.Ser1346Ile) c.447G>T c.3605G>T (p.Ser1202Ile) c.4001G>T (p.Ser1334Ile) c.2210G>T (p.Ser737Ile) c.4652G>T (p.Ser1551Ile) c.4526G>T (p.Ser1509Ile) c.4469G>T (p.Ser1490Ile) c.4196G>T (p.Ser1399Ile) c.4583G>T (p.Ser1528Ile) c.4517G>T (p.Ser1506Ile) c.4457G>T (p.Ser1486Ile) c.4343G>T (p.Ser1448Ile) c.4322G>T (p.Ser1441Ile) c.4187G>T (p.Ser1396Ile) c.4127G>T (p.Ser1376Ile) c.4061G>T (p.Ser1354Ile) c.4058G>T (p.Ser1353Ile) c.4049G>T (p.Ser1350Ile) c.3992G>T (p.Ser1331Ile) c.3875G>T (p.Ser1292Ile) | |
3 | g.77644759C>A | CA353533380 | ROBO2 | c.4185C>A (p.Ser1395Arg) c.4176C>A (p.Ser1392Arg) c.4071C>A (p.Ser1357Arg) c.4263C>A (p.Ser1421Arg) c.*933C>A (n.*933C>A) c.4275C>A (p.Ser1425Arg) c.4449C>A (p.Ser1483Arg) c.*2423C>A (n.*2423C>A) c.4116C>A (p.Ser1372Arg) c.531C>A (p.Ser177Arg) c.4173C>A (p.Ser1391Arg) c.3990C>A (p.Ser1330Arg) n.5978C>A c.*2434C>A (n.*2434C>A) c.484C>A c.4038C>A (p.Ser1346Arg) c.448C>A c.3606C>A (p.Ser1202Arg) c.4002C>A (p.Ser1334Arg) c.2211C>A (p.Ser737Arg) c.4653C>A (p.Ser1551Arg) c.4527C>A (p.Ser1509Arg) c.4470C>A (p.Ser1490Arg) c.4197C>A (p.Ser1399Arg) c.4584C>A (p.Ser1528Arg) c.4518C>A (p.Ser1506Arg) c.4458C>A (p.Ser1486Arg) c.4344C>A (p.Ser1448Arg) c.4323C>A (p.Ser1441Arg) c.4188C>A (p.Ser1396Arg) c.4128C>A (p.Ser1376Arg) c.4062C>A (p.Ser1354Arg) c.4059C>A (p.Ser1353Arg) c.4050C>A (p.Ser1350Arg) c.3993C>A (p.Ser1331Arg) c.3876C>A (p.Ser1292Arg) | |
3 | g.77644759C>G | CA353533382 | ROBO2 | c.4185C>G (p.Ser1395Arg) c.4176C>G (p.Ser1392Arg) c.4071C>G (p.Ser1357Arg) c.4263C>G (p.Ser1421Arg) c.*933C>G (n.*933C>G) c.4275C>G (p.Ser1425Arg) c.4449C>G (p.Ser1483Arg) c.*2423C>G (n.*2423C>G) c.4116C>G (p.Ser1372Arg) c.531C>G (p.Ser177Arg) c.4173C>G (p.Ser1391Arg) c.3990C>G (p.Ser1330Arg) n.5978C>G c.*2434C>G (n.*2434C>G) c.484C>G c.4038C>G (p.Ser1346Arg) c.448C>G c.3606C>G (p.Ser1202Arg) c.4002C>G (p.Ser1334Arg) c.2211C>G (p.Ser737Arg) c.4653C>G (p.Ser1551Arg) c.4527C>G (p.Ser1509Arg) c.4470C>G (p.Ser1490Arg) c.4197C>G (p.Ser1399Arg) c.4584C>G (p.Ser1528Arg) c.4518C>G (p.Ser1506Arg) c.4458C>G (p.Ser1486Arg) c.4344C>G (p.Ser1448Arg) c.4323C>G (p.Ser1441Arg) c.4188C>G (p.Ser1396Arg) c.4128C>G (p.Ser1376Arg) c.4062C>G (p.Ser1354Arg) c.4059C>G (p.Ser1353Arg) c.4050C>G (p.Ser1350Arg) c.3993C>G (p.Ser1331Arg) c.3876C>G (p.Ser1292Arg) | |
3 | g.77644759C>T | CA434435258 | ROBO2 | c.4185C>T (p.Ser1395=) c.4176C>T (p.Ser1392=) c.4071C>T (p.Ser1357=) c.4263C>T (p.Ser1421=) c.*933C>T (n.*933C>T) c.4275C>T (p.Ser1425=) c.4449C>T (p.Ser1483=) c.*2423C>T (n.*2423C>T) c.4116C>T (p.Ser1372=) c.531C>T (p.Ser177=) c.4173C>T (p.Ser1391=) c.3990C>T (p.Ser1330=) n.5978C>T c.*2434C>T (n.*2434C>T) c.484C>T c.4038C>T (p.Ser1346=) c.448C>T c.3606C>T (p.Ser1202=) c.4002C>T (p.Ser1334=) c.2211C>T (p.Ser737=) c.4653C>T (p.Ser1551=) c.4527C>T (p.Ser1509=) c.4470C>T (p.Ser1490=) c.4197C>T (p.Ser1399=) c.4584C>T (p.Ser1528=) c.4518C>T (p.Ser1506=) c.4458C>T (p.Ser1486=) c.4344C>T (p.Ser1448=) c.4323C>T (p.Ser1441=) c.4188C>T (p.Ser1396=) c.4128C>T (p.Ser1376=) c.4062C>T (p.Ser1354=) c.4059C>T (p.Ser1353=) c.4050C>T (p.Ser1350=) c.3993C>T (p.Ser1331=) c.3876C>T (p.Ser1292=) | gnomAD v4 |
3 | g.77644760T>A | CA353533388 | ROBO2 | c.4186T>A (p.Ser1396Thr) c.4177T>A (p.Ser1393Thr) c.4072T>A (p.Ser1358Thr) c.4264T>A (p.Ser1422Thr) c.*934T>A (n.*934T>A) c.4276T>A (p.Ser1426Thr) c.4450T>A (p.Ser1484Thr) c.*2424T>A (n.*2424T>A) c.4117T>A (p.Ser1373Thr) c.532T>A (p.Ser178Thr) c.4174T>A (p.Ser1392Thr) c.3991T>A (p.Ser1331Thr) n.5979T>A c.*2435T>A (n.*2435T>A) c.485T>A c.4039T>A (p.Ser1347Thr) c.449T>A c.3607T>A (p.Ser1203Thr) c.4003T>A (p.Ser1335Thr) c.2212T>A (p.Ser738Thr) c.4654T>A (p.Ser1552Thr) c.4528T>A (p.Ser1510Thr) c.4471T>A (p.Ser1491Thr) c.4198T>A (p.Ser1400Thr) c.4585T>A (p.Ser1529Thr) c.4519T>A (p.Ser1507Thr) c.4459T>A (p.Ser1487Thr) c.4345T>A (p.Ser1449Thr) c.4324T>A (p.Ser1442Thr) c.4189T>A (p.Ser1397Thr) c.4129T>A (p.Ser1377Thr) c.4063T>A (p.Ser1355Thr) c.4060T>A (p.Ser1354Thr) c.4051T>A (p.Ser1351Thr) c.3994T>A (p.Ser1332Thr) c.3877T>A (p.Ser1293Thr) | |
3 | g.77644760T>C | CA353533386 | ROBO2 | c.4186T>C (p.Ser1396Pro) c.4177T>C (p.Ser1393Pro) c.4072T>C (p.Ser1358Pro) c.4264T>C (p.Ser1422Pro) c.*934T>C (n.*934T>C) c.4276T>C (p.Ser1426Pro) c.4450T>C (p.Ser1484Pro) c.*2424T>C (n.*2424T>C) c.4117T>C (p.Ser1373Pro) c.532T>C (p.Ser178Pro) c.4174T>C (p.Ser1392Pro) c.3991T>C (p.Ser1331Pro) n.5979T>C c.*2435T>C (n.*2435T>C) c.485T>C c.4039T>C (p.Ser1347Pro) c.449T>C c.3607T>C (p.Ser1203Pro) c.4003T>C (p.Ser1335Pro) c.2212T>C (p.Ser738Pro) c.4654T>C (p.Ser1552Pro) c.4528T>C (p.Ser1510Pro) c.4471T>C (p.Ser1491Pro) c.4198T>C (p.Ser1400Pro) c.4585T>C (p.Ser1529Pro) c.4519T>C (p.Ser1507Pro) c.4459T>C (p.Ser1487Pro) c.4345T>C (p.Ser1449Pro) c.4324T>C (p.Ser1442Pro) c.4189T>C (p.Ser1397Pro) c.4129T>C (p.Ser1377Pro) c.4063T>C (p.Ser1355Pro) c.4060T>C (p.Ser1354Pro) c.4051T>C (p.Ser1351Pro) c.3994T>C (p.Ser1332Pro) c.3877T>C (p.Ser1293Pro) | |
3 | g.77644760T>G | CA353533385 | ROBO2 | c.4186T>G (p.Ser1396Ala) c.4177T>G (p.Ser1393Ala) c.4072T>G (p.Ser1358Ala) c.4264T>G (p.Ser1422Ala) c.*934T>G (n.*934T>G) c.4276T>G (p.Ser1426Ala) c.4450T>G (p.Ser1484Ala) c.*2424T>G (n.*2424T>G) c.4117T>G (p.Ser1373Ala) c.532T>G (p.Ser178Ala) c.4174T>G (p.Ser1392Ala) c.3991T>G (p.Ser1331Ala) n.5979T>G c.*2435T>G (n.*2435T>G) c.485T>G c.4039T>G (p.Ser1347Ala) c.449T>G c.3607T>G (p.Ser1203Ala) c.4003T>G (p.Ser1335Ala) c.2212T>G (p.Ser738Ala) c.4654T>G (p.Ser1552Ala) c.4528T>G (p.Ser1510Ala) c.4471T>G (p.Ser1491Ala) c.4198T>G (p.Ser1400Ala) c.4585T>G (p.Ser1529Ala) c.4519T>G (p.Ser1507Ala) c.4459T>G (p.Ser1487Ala) c.4345T>G (p.Ser1449Ala) c.4324T>G (p.Ser1442Ala) c.4189T>G (p.Ser1397Ala) c.4129T>G (p.Ser1377Ala) c.4063T>G (p.Ser1355Ala) c.4060T>G (p.Ser1354Ala) c.4051T>G (p.Ser1351Ala) c.3994T>G (p.Ser1332Ala) c.3877T>G (p.Ser1293Ala) | |
3 | g.77644761C>A | CA353533391 | ROBO2 | c.4187C>A (p.Ser1396Ter) c.4178C>A (p.Ser1393Ter) c.4073C>A (p.Ser1358Ter) c.4265C>A (p.Ser1422Ter) c.*935C>A (n.*935C>A) c.4277C>A (p.Ser1426Ter) c.4451C>A (p.Ser1484Ter) c.*2425C>A (n.*2425C>A) c.4118C>A (p.Ser1373Ter) c.533C>A (p.Ser178Ter) c.4175C>A (p.Ser1392Ter) c.3992C>A (p.Ser1331Ter) n.5980C>A c.*2436C>A (n.*2436C>A) c.486C>A c.4040C>A (p.Ser1347Ter) c.450C>A c.3608C>A (p.Ser1203Ter) c.4004C>A (p.Ser1335Ter) c.2213C>A (p.Ser738Ter) c.4655C>A (p.Ser1552Ter) c.4529C>A (p.Ser1510Ter) c.4472C>A (p.Ser1491Ter) c.4199C>A (p.Ser1400Ter) c.4586C>A (p.Ser1529Ter) c.4520C>A (p.Ser1507Ter) c.4460C>A (p.Ser1487Ter) c.4346C>A (p.Ser1449Ter) c.4325C>A (p.Ser1442Ter) c.4190C>A (p.Ser1397Ter) c.4130C>A (p.Ser1377Ter) c.4064C>A (p.Ser1355Ter) c.4061C>A (p.Ser1354Ter) c.4052C>A (p.Ser1351Ter) c.3995C>A (p.Ser1332Ter) c.3878C>A (p.Ser1293Ter) | gnomAD v4 |
3 | g.77644761C>G | CA353533392 | ROBO2 | c.4187C>G (p.Ser1396Ter) c.4178C>G (p.Ser1393Ter) c.4073C>G (p.Ser1358Ter) c.4265C>G (p.Ser1422Ter) c.*935C>G (n.*935C>G) c.4277C>G (p.Ser1426Ter) c.4451C>G (p.Ser1484Ter) c.*2425C>G (n.*2425C>G) c.4118C>G (p.Ser1373Ter) c.533C>G (p.Ser178Ter) c.4175C>G (p.Ser1392Ter) c.3992C>G (p.Ser1331Ter) n.5980C>G c.*2436C>G (n.*2436C>G) c.486C>G c.4040C>G (p.Ser1347Ter) c.450C>G c.3608C>G (p.Ser1203Ter) c.4004C>G (p.Ser1335Ter) c.2213C>G (p.Ser738Ter) c.4655C>G (p.Ser1552Ter) c.4529C>G (p.Ser1510Ter) c.4472C>G (p.Ser1491Ter) c.4199C>G (p.Ser1400Ter) c.4586C>G (p.Ser1529Ter) c.4520C>G (p.Ser1507Ter) c.4460C>G (p.Ser1487Ter) c.4346C>G (p.Ser1449Ter) c.4325C>G (p.Ser1442Ter) c.4190C>G (p.Ser1397Ter) c.4130C>G (p.Ser1377Ter) c.4064C>G (p.Ser1355Ter) c.4061C>G (p.Ser1354Ter) c.4052C>G (p.Ser1351Ter) c.3995C>G (p.Ser1332Ter) c.3878C>G (p.Ser1293Ter) | |
3 | g.77644761C>T | CA353533394 | ROBO2 | c.4187C>T (p.Ser1396Leu) c.4178C>T (p.Ser1393Leu) c.4073C>T (p.Ser1358Leu) c.4265C>T (p.Ser1422Leu) c.*935C>T (n.*935C>T) c.4277C>T (p.Ser1426Leu) c.4451C>T (p.Ser1484Leu) c.*2425C>T (n.*2425C>T) c.4118C>T (p.Ser1373Leu) c.533C>T (p.Ser178Leu) c.4175C>T (p.Ser1392Leu) c.3992C>T (p.Ser1331Leu) n.5980C>T c.*2436C>T (n.*2436C>T) c.486C>T c.4040C>T (p.Ser1347Leu) c.450C>T c.3608C>T (p.Ser1203Leu) c.4004C>T (p.Ser1335Leu) c.2213C>T (p.Ser738Leu) c.4655C>T (p.Ser1552Leu) c.4529C>T (p.Ser1510Leu) c.4472C>T (p.Ser1491Leu) c.4199C>T (p.Ser1400Leu) c.4586C>T (p.Ser1529Leu) c.4520C>T (p.Ser1507Leu) c.4460C>T (p.Ser1487Leu) c.4346C>T (p.Ser1449Leu) c.4325C>T (p.Ser1442Leu) c.4190C>T (p.Ser1397Leu) c.4130C>T (p.Ser1377Leu) c.4064C>T (p.Ser1355Leu) c.4061C>T (p.Ser1354Leu) c.4052C>T (p.Ser1351Leu) c.3995C>T (p.Ser1332Leu) c.3878C>T (p.Ser1293Leu) | ClinVar |
3 | g.77644762A= | CA1376777935 | ROBO2 | c.4188A= (p.Ser1396=) c.4179A= (p.Ser1393=) c.4074A= (p.Ser1358=) c.4266A= (p.Ser1422=) c.*936A= (n.*936A=) c.4278A= (p.Ser1426=) c.4452A= (p.Ser1484=) c.*2426A= (n.*2426A=) c.4119A= (p.Ser1373=) c.534A= (p.Ser178=) c.4176A= (p.Ser1392=) c.3993A= (p.Ser1331=) n.5981A= c.*2437A= (n.*2437A=) c.487A= c.4041A= (p.Ser1347=) c.451A= c.3609A= (p.Ser1203=) c.4005A= (p.Ser1335=) c.2214A= (p.Ser738=) c.4656A= (p.Ser1552=) c.4530A= (p.Ser1510=) c.4473A= (p.Ser1491=) c.4200A= (p.Ser1400=) c.4587A= (p.Ser1529=) c.4521A= (p.Ser1507=) c.4461A= (p.Ser1487=) c.4347A= (p.Ser1449=) c.4326A= (p.Ser1442=) c.4191A= (p.Ser1397=) c.4131A= (p.Ser1377=) c.4065A= (p.Ser1355=) c.4062A= (p.Ser1354=) c.4053A= (p.Ser1351=) c.3996A= (p.Ser1332=) c.3879A= (p.Ser1293=) | |
3 | g.77644762A>C | CA434435259 | ROBO2 | c.4188A>C (p.Ser1396=) c.4179A>C (p.Ser1393=) c.4074A>C (p.Ser1358=) c.4266A>C (p.Ser1422=) c.*936A>C (n.*936A>C) c.4278A>C (p.Ser1426=) c.4452A>C (p.Ser1484=) c.*2426A>C (n.*2426A>C) c.4119A>C (p.Ser1373=) c.534A>C (p.Ser178=) c.4176A>C (p.Ser1392=) c.3993A>C (p.Ser1331=) n.5981A>C c.*2437A>C (n.*2437A>C) c.487A>C c.4041A>C (p.Ser1347=) c.451A>C c.3609A>C (p.Ser1203=) c.4005A>C (p.Ser1335=) c.2214A>C (p.Ser738=) c.4656A>C (p.Ser1552=) c.4530A>C (p.Ser1510=) c.4473A>C (p.Ser1491=) c.4200A>C (p.Ser1400=) c.4587A>C (p.Ser1529=) c.4521A>C (p.Ser1507=) c.4461A>C (p.Ser1487=) c.4347A>C (p.Ser1449=) c.4326A>C (p.Ser1442=) c.4191A>C (p.Ser1397=) c.4131A>C (p.Ser1377=) c.4065A>C (p.Ser1355=) c.4062A>C (p.Ser1354=) c.4053A>C (p.Ser1351=) c.3996A>C (p.Ser1332=) c.3879A>C (p.Ser1293=) | gnomAD v4 |
3 | g.77644762A>G | CA434435261 | ROBO2 | c.4188A>G (p.Ser1396=) c.4179A>G (p.Ser1393=) c.4074A>G (p.Ser1358=) c.4266A>G (p.Ser1422=) c.*936A>G (n.*936A>G) c.4278A>G (p.Ser1426=) c.4452A>G (p.Ser1484=) c.*2426A>G (n.*2426A>G) c.4119A>G (p.Ser1373=) c.534A>G (p.Ser178=) c.4176A>G (p.Ser1392=) c.3993A>G (p.Ser1331=) n.5981A>G c.*2437A>G (n.*2437A>G) c.487A>G c.4041A>G (p.Ser1347=) c.451A>G c.3609A>G (p.Ser1203=) c.4005A>G (p.Ser1335=) c.2214A>G (p.Ser738=) c.4656A>G (p.Ser1552=) c.4530A>G (p.Ser1510=) c.4473A>G (p.Ser1491=) c.4200A>G (p.Ser1400=) c.4587A>G (p.Ser1529=) c.4521A>G (p.Ser1507=) c.4461A>G (p.Ser1487=) c.4347A>G (p.Ser1449=) c.4326A>G (p.Ser1442=) c.4191A>G (p.Ser1397=) c.4131A>G (p.Ser1377=) c.4065A>G (p.Ser1355=) c.4062A>G (p.Ser1354=) c.4053A>G (p.Ser1351=) c.3996A>G (p.Ser1332=) c.3879A>G (p.Ser1293=) | gnomAD v4 |
3 | g.77644762A>T | CA434435260 | ROBO2 | c.4188A>T (p.Ser1396=) c.4179A>T (p.Ser1393=) c.4074A>T (p.Ser1358=) c.4266A>T (p.Ser1422=) c.*936A>T (n.*936A>T) c.4278A>T (p.Ser1426=) c.4452A>T (p.Ser1484=) c.*2426A>T (n.*2426A>T) c.4119A>T (p.Ser1373=) c.534A>T (p.Ser178=) c.4176A>T (p.Ser1392=) c.3993A>T (p.Ser1331=) n.5981A>T c.*2437A>T (n.*2437A>T) c.487A>T c.4041A>T (p.Ser1347=) c.451A>T c.3609A>T (p.Ser1203=) c.4005A>T (p.Ser1335=) c.2214A>T (p.Ser738=) c.4656A>T (p.Ser1552=) c.4530A>T (p.Ser1510=) c.4473A>T (p.Ser1491=) c.4200A>T (p.Ser1400=) c.4587A>T (p.Ser1529=) c.4521A>T (p.Ser1507=) c.4461A>T (p.Ser1487=) c.4347A>T (p.Ser1449=) c.4326A>T (p.Ser1442=) c.4191A>T (p.Ser1397=) c.4131A>T (p.Ser1377=) c.4065A>T (p.Ser1355=) c.4062A>T (p.Ser1354=) c.4053A>T (p.Ser1351=) c.3996A>T (p.Ser1332=) c.3879A>T (p.Ser1293=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77644763T>A | CA353533396 | ROBO2 | c.4189T>A (p.Ser1397Thr) c.4180T>A (p.Ser1394Thr) c.4075T>A (p.Ser1359Thr) c.4267T>A (p.Ser1423Thr) c.*937T>A (n.*937T>A) c.4279T>A (p.Ser1427Thr) c.4453T>A (p.Ser1485Thr) c.*2427T>A (n.*2427T>A) c.4120T>A (p.Ser1374Thr) c.535T>A (p.Ser179Thr) c.4177T>A (p.Ser1393Thr) c.3994T>A (p.Ser1332Thr) n.5982T>A c.*2438T>A (n.*2438T>A) c.488T>A c.4042T>A (p.Ser1348Thr) c.452T>A c.3610T>A (p.Ser1204Thr) c.4006T>A (p.Ser1336Thr) c.2215T>A (p.Ser739Thr) c.4657T>A (p.Ser1553Thr) c.4531T>A (p.Ser1511Thr) c.4474T>A (p.Ser1492Thr) c.4201T>A (p.Ser1401Thr) c.4588T>A (p.Ser1530Thr) c.4522T>A (p.Ser1508Thr) c.4462T>A (p.Ser1488Thr) c.4348T>A (p.Ser1450Thr) c.4327T>A (p.Ser1443Thr) c.4192T>A (p.Ser1398Thr) c.4132T>A (p.Ser1378Thr) c.4066T>A (p.Ser1356Thr) c.4063T>A (p.Ser1355Thr) c.4054T>A (p.Ser1352Thr) c.3997T>A (p.Ser1333Thr) c.3880T>A (p.Ser1294Thr) | |
3 | g.77644763T>C | CA353533397 | ROBO2 | c.4189T>C (p.Ser1397Pro) c.4180T>C (p.Ser1394Pro) c.4075T>C (p.Ser1359Pro) c.4267T>C (p.Ser1423Pro) c.*937T>C (n.*937T>C) c.4279T>C (p.Ser1427Pro) c.4453T>C (p.Ser1485Pro) c.*2427T>C (n.*2427T>C) c.4120T>C (p.Ser1374Pro) c.535T>C (p.Ser179Pro) c.4177T>C (p.Ser1393Pro) c.3994T>C (p.Ser1332Pro) n.5982T>C c.*2438T>C (n.*2438T>C) c.488T>C c.4042T>C (p.Ser1348Pro) c.452T>C c.3610T>C (p.Ser1204Pro) c.4006T>C (p.Ser1336Pro) c.2215T>C (p.Ser739Pro) c.4657T>C (p.Ser1553Pro) c.4531T>C (p.Ser1511Pro) c.4474T>C (p.Ser1492Pro) c.4201T>C (p.Ser1401Pro) c.4588T>C (p.Ser1530Pro) c.4522T>C (p.Ser1508Pro) c.4462T>C (p.Ser1488Pro) c.4348T>C (p.Ser1450Pro) c.4327T>C (p.Ser1443Pro) c.4192T>C (p.Ser1398Pro) c.4132T>C (p.Ser1378Pro) c.4066T>C (p.Ser1356Pro) c.4063T>C (p.Ser1355Pro) c.4054T>C (p.Ser1352Pro) c.3997T>C (p.Ser1333Pro) c.3880T>C (p.Ser1294Pro) | dbSNP gnomAD v4 |
3 | g.77644763T>G | CA353533399 | ROBO2 | c.4189T>G (p.Ser1397Ala) c.4180T>G (p.Ser1394Ala) c.4075T>G (p.Ser1359Ala) c.4267T>G (p.Ser1423Ala) c.*937T>G (n.*937T>G) c.4279T>G (p.Ser1427Ala) c.4453T>G (p.Ser1485Ala) c.*2427T>G (n.*2427T>G) c.4120T>G (p.Ser1374Ala) c.535T>G (p.Ser179Ala) c.4177T>G (p.Ser1393Ala) c.3994T>G (p.Ser1332Ala) n.5982T>G c.*2438T>G (n.*2438T>G) c.488T>G c.4042T>G (p.Ser1348Ala) c.452T>G c.3610T>G (p.Ser1204Ala) c.4006T>G (p.Ser1336Ala) c.2215T>G (p.Ser739Ala) c.4657T>G (p.Ser1553Ala) c.4531T>G (p.Ser1511Ala) c.4474T>G (p.Ser1492Ala) c.4201T>G (p.Ser1401Ala) c.4588T>G (p.Ser1530Ala) c.4522T>G (p.Ser1508Ala) c.4462T>G (p.Ser1488Ala) c.4348T>G (p.Ser1450Ala) c.4327T>G (p.Ser1443Ala) c.4192T>G (p.Ser1398Ala) c.4132T>G (p.Ser1378Ala) c.4066T>G (p.Ser1356Ala) c.4063T>G (p.Ser1355Ala) c.4054T>G (p.Ser1352Ala) c.3997T>G (p.Ser1333Ala) c.3880T>G (p.Ser1294Ala) | |
3 | g.77644763T= | CA1376777936 | ROBO2 | c.4189T= (p.Ser1397=) c.4180T= (p.Ser1394=) c.4075T= (p.Ser1359=) c.4267T= (p.Ser1423=) c.*937T= (n.*937T=) c.4279T= (p.Ser1427=) c.4453T= (p.Ser1485=) c.*2427T= (n.*2427T=) c.4120T= (p.Ser1374=) c.535T= (p.Ser179=) c.4177T= (p.Ser1393=) c.3994T= (p.Ser1332=) n.5982T= c.*2438T= (n.*2438T=) c.488T= c.4042T= (p.Ser1348=) c.452T= c.3610T= (p.Ser1204=) c.4006T= (p.Ser1336=) c.2215T= (p.Ser739=) c.4657T= (p.Ser1553=) c.4531T= (p.Ser1511=) c.4474T= (p.Ser1492=) c.4201T= (p.Ser1401=) c.4588T= (p.Ser1530=) c.4522T= (p.Ser1508=) c.4462T= (p.Ser1488=) c.4348T= (p.Ser1450=) c.4327T= (p.Ser1443=) c.4192T= (p.Ser1398=) c.4132T= (p.Ser1378=) c.4066T= (p.Ser1356=) c.4063T= (p.Ser1355=) c.4054T= (p.Ser1352=) c.3997T= (p.Ser1333=) c.3880T= (p.Ser1294=) | |
3 | g.77644764C>A | CA353533401 | ROBO2 | c.4190C>A (p.Ser1397Ter) c.4181C>A (p.Ser1394Ter) c.4076C>A (p.Ser1359Ter) c.4268C>A (p.Ser1423Ter) c.*938C>A (n.*938C>A) c.4280C>A (p.Ser1427Ter) c.4454C>A (p.Ser1485Ter) c.*2428C>A (n.*2428C>A) c.4121C>A (p.Ser1374Ter) c.536C>A (p.Ser179Ter) c.4178C>A (p.Ser1393Ter) c.3995C>A (p.Ser1332Ter) n.5983C>A c.*2439C>A (n.*2439C>A) c.489C>A c.4043C>A (p.Ser1348Ter) c.453C>A c.3611C>A (p.Ser1204Ter) c.4007C>A (p.Ser1336Ter) c.2216C>A (p.Ser739Ter) c.4658C>A (p.Ser1553Ter) c.4532C>A (p.Ser1511Ter) c.4475C>A (p.Ser1492Ter) c.4202C>A (p.Ser1401Ter) c.4589C>A (p.Ser1530Ter) c.4523C>A (p.Ser1508Ter) c.4463C>A (p.Ser1488Ter) c.4349C>A (p.Ser1450Ter) c.4328C>A (p.Ser1443Ter) c.4193C>A (p.Ser1398Ter) c.4133C>A (p.Ser1378Ter) c.4067C>A (p.Ser1356Ter) c.4064C>A (p.Ser1355Ter) c.4055C>A (p.Ser1352Ter) c.3998C>A (p.Ser1333Ter) c.3881C>A (p.Ser1294Ter) | |
3 | g.77644764C>G | CA353533403 | ROBO2 | c.4190C>G (p.Ser1397Ter) c.4181C>G (p.Ser1394Ter) c.4076C>G (p.Ser1359Ter) c.4268C>G (p.Ser1423Ter) c.*938C>G (n.*938C>G) c.4280C>G (p.Ser1427Ter) c.4454C>G (p.Ser1485Ter) c.*2428C>G (n.*2428C>G) c.4121C>G (p.Ser1374Ter) c.536C>G (p.Ser179Ter) c.4178C>G (p.Ser1393Ter) c.3995C>G (p.Ser1332Ter) n.5983C>G c.*2439C>G (n.*2439C>G) c.489C>G c.4043C>G (p.Ser1348Ter) c.453C>G c.3611C>G (p.Ser1204Ter) c.4007C>G (p.Ser1336Ter) c.2216C>G (p.Ser739Ter) c.4658C>G (p.Ser1553Ter) c.4532C>G (p.Ser1511Ter) c.4475C>G (p.Ser1492Ter) c.4202C>G (p.Ser1401Ter) c.4589C>G (p.Ser1530Ter) c.4523C>G (p.Ser1508Ter) c.4463C>G (p.Ser1488Ter) c.4349C>G (p.Ser1450Ter) c.4328C>G (p.Ser1443Ter) c.4193C>G (p.Ser1398Ter) c.4133C>G (p.Ser1378Ter) c.4067C>G (p.Ser1356Ter) c.4064C>G (p.Ser1355Ter) c.4055C>G (p.Ser1352Ter) c.3998C>G (p.Ser1333Ter) c.3881C>G (p.Ser1294Ter) | |
3 | g.77644764C>T | CA353533404 | ROBO2 | c.4190C>T (p.Ser1397Leu) c.4181C>T (p.Ser1394Leu) c.4076C>T (p.Ser1359Leu) c.4268C>T (p.Ser1423Leu) c.*938C>T (n.*938C>T) c.4280C>T (p.Ser1427Leu) c.4454C>T (p.Ser1485Leu) c.*2428C>T (n.*2428C>T) c.4121C>T (p.Ser1374Leu) c.536C>T (p.Ser179Leu) c.4178C>T (p.Ser1393Leu) c.3995C>T (p.Ser1332Leu) n.5983C>T c.*2439C>T (n.*2439C>T) c.489C>T c.4043C>T (p.Ser1348Leu) c.453C>T c.3611C>T (p.Ser1204Leu) c.4007C>T (p.Ser1336Leu) c.2216C>T (p.Ser739Leu) c.4658C>T (p.Ser1553Leu) c.4532C>T (p.Ser1511Leu) c.4475C>T (p.Ser1492Leu) c.4202C>T (p.Ser1401Leu) c.4589C>T (p.Ser1530Leu) c.4523C>T (p.Ser1508Leu) c.4463C>T (p.Ser1488Leu) c.4349C>T (p.Ser1450Leu) c.4328C>T (p.Ser1443Leu) c.4193C>T (p.Ser1398Leu) c.4133C>T (p.Ser1378Leu) c.4067C>T (p.Ser1356Leu) c.4064C>T (p.Ser1355Leu) c.4055C>T (p.Ser1352Leu) c.3998C>T (p.Ser1333Leu) c.3881C>T (p.Ser1294Leu) | gnomAD v4 |
3 | g.77644765A>C | CA434435262 | ROBO2 | c.4191A>C (p.Ser1397=) c.4182A>C (p.Ser1394=) c.4077A>C (p.Ser1359=) c.4269A>C (p.Ser1423=) c.*939A>C (n.*939A>C) c.4281A>C (p.Ser1427=) c.4455A>C (p.Ser1485=) c.*2429A>C (n.*2429A>C) c.4122A>C (p.Ser1374=) c.537A>C (p.Ser179=) c.4179A>C (p.Ser1393=) c.3996A>C (p.Ser1332=) n.5984A>C c.*2440A>C (n.*2440A>C) c.490A>C c.4044A>C (p.Ser1348=) c.454A>C c.3612A>C (p.Ser1204=) c.4008A>C (p.Ser1336=) c.2217A>C (p.Ser739=) c.4659A>C (p.Ser1553=) c.4533A>C (p.Ser1511=) c.4476A>C (p.Ser1492=) c.4203A>C (p.Ser1401=) c.4590A>C (p.Ser1530=) c.4524A>C (p.Ser1508=) c.4464A>C (p.Ser1488=) c.4350A>C (p.Ser1450=) c.4329A>C (p.Ser1443=) c.4194A>C (p.Ser1398=) c.4134A>C (p.Ser1378=) c.4068A>C (p.Ser1356=) c.4065A>C (p.Ser1355=) c.4056A>C (p.Ser1352=) c.3999A>C (p.Ser1333=) c.3882A>C (p.Ser1294=) | |
3 | g.77644765A>G | CA434435263 | ROBO2 | c.4191A>G (p.Ser1397=) c.4182A>G (p.Ser1394=) c.4077A>G (p.Ser1359=) c.4269A>G (p.Ser1423=) c.*939A>G (n.*939A>G) c.4281A>G (p.Ser1427=) c.4455A>G (p.Ser1485=) c.*2429A>G (n.*2429A>G) c.4122A>G (p.Ser1374=) c.537A>G (p.Ser179=) c.4179A>G (p.Ser1393=) c.3996A>G (p.Ser1332=) n.5984A>G c.*2440A>G (n.*2440A>G) c.490A>G c.4044A>G (p.Ser1348=) c.454A>G c.3612A>G (p.Ser1204=) c.4008A>G (p.Ser1336=) c.2217A>G (p.Ser739=) c.4659A>G (p.Ser1553=) c.4533A>G (p.Ser1511=) c.4476A>G (p.Ser1492=) c.4203A>G (p.Ser1401=) c.4590A>G (p.Ser1530=) c.4524A>G (p.Ser1508=) c.4464A>G (p.Ser1488=) c.4350A>G (p.Ser1450=) c.4329A>G (p.Ser1443=) c.4194A>G (p.Ser1398=) c.4134A>G (p.Ser1378=) c.4068A>G (p.Ser1356=) c.4065A>G (p.Ser1355=) c.4056A>G (p.Ser1352=) c.3999A>G (p.Ser1333=) c.3882A>G (p.Ser1294=) | |
3 | g.77644765A>T | CA434435264 | ROBO2 | c.4191A>T (p.Ser1397=) c.4182A>T (p.Ser1394=) c.4077A>T (p.Ser1359=) c.4269A>T (p.Ser1423=) c.*939A>T (n.*939A>T) c.4281A>T (p.Ser1427=) c.4455A>T (p.Ser1485=) c.*2429A>T (n.*2429A>T) c.4122A>T (p.Ser1374=) c.537A>T (p.Ser179=) c.4179A>T (p.Ser1393=) c.3996A>T (p.Ser1332=) n.5984A>T c.*2440A>T (n.*2440A>T) c.490A>T c.4044A>T (p.Ser1348=) c.454A>T c.3612A>T (p.Ser1204=) c.4008A>T (p.Ser1336=) c.2217A>T (p.Ser739=) c.4659A>T (p.Ser1553=) c.4533A>T (p.Ser1511=) c.4476A>T (p.Ser1492=) c.4203A>T (p.Ser1401=) c.4590A>T (p.Ser1530=) c.4524A>T (p.Ser1508=) c.4464A>T (p.Ser1488=) c.4350A>T (p.Ser1450=) c.4329A>T (p.Ser1443=) c.4194A>T (p.Ser1398=) c.4134A>T (p.Ser1378=) c.4068A>T (p.Ser1356=) c.4065A>T (p.Ser1355=) c.4056A>T (p.Ser1352=) c.3999A>T (p.Ser1333=) c.3882A>T (p.Ser1294=) | |
3 | g.77644766G>A | CA353533407 | ROBO2 | c.4192G>A (p.Gly1398Arg) c.4183G>A (p.Gly1395Arg) c.4078G>A (p.Gly1360Arg) c.4270G>A (p.Gly1424Arg) c.*940G>A (n.*940G>A) c.4282G>A (p.Gly1428Arg) c.4456G>A (p.Gly1486Arg) c.*2430G>A (n.*2430G>A) c.4123G>A (p.Gly1375Arg) c.538G>A (p.Gly180Arg) c.4180G>A (p.Gly1394Arg) c.3997G>A (p.Gly1333Arg) n.5985G>A c.*2441G>A (n.*2441G>A) c.491G>A c.4045G>A (p.Gly1349Arg) c.455G>A c.3613G>A (p.Gly1205Arg) c.4009G>A (p.Gly1337Arg) c.2218G>A (p.Gly740Arg) c.4660G>A (p.Gly1554Arg) c.4534G>A (p.Gly1512Arg) c.4477G>A (p.Gly1493Arg) c.4204G>A (p.Gly1402Arg) c.4591G>A (p.Gly1531Arg) c.4525G>A (p.Gly1509Arg) c.4465G>A (p.Gly1489Arg) c.4351G>A (p.Gly1451Arg) c.4330G>A (p.Gly1444Arg) c.4195G>A (p.Gly1399Arg) c.4135G>A (p.Gly1379Arg) c.4069G>A (p.Gly1357Arg) c.4066G>A (p.Gly1356Arg) c.4057G>A (p.Gly1353Arg) c.4000G>A (p.Gly1334Arg) c.3883G>A (p.Gly1295Arg) | COSMIC COSMIC |
3 | g.77644766G>C | CA353533409 | ROBO2 | c.4192G>C (p.Gly1398Arg) c.4183G>C (p.Gly1395Arg) c.4078G>C (p.Gly1360Arg) c.4270G>C (p.Gly1424Arg) c.*940G>C (n.*940G>C) c.4282G>C (p.Gly1428Arg) c.4456G>C (p.Gly1486Arg) c.*2430G>C (n.*2430G>C) c.4123G>C (p.Gly1375Arg) c.538G>C (p.Gly180Arg) c.4180G>C (p.Gly1394Arg) c.3997G>C (p.Gly1333Arg) n.5985G>C c.*2441G>C (n.*2441G>C) c.491G>C c.4045G>C (p.Gly1349Arg) c.455G>C c.3613G>C (p.Gly1205Arg) c.4009G>C (p.Gly1337Arg) c.2218G>C (p.Gly740Arg) c.4660G>C (p.Gly1554Arg) c.4534G>C (p.Gly1512Arg) c.4477G>C (p.Gly1493Arg) c.4204G>C (p.Gly1402Arg) c.4591G>C (p.Gly1531Arg) c.4525G>C (p.Gly1509Arg) c.4465G>C (p.Gly1489Arg) c.4351G>C (p.Gly1451Arg) c.4330G>C (p.Gly1444Arg) c.4195G>C (p.Gly1399Arg) c.4135G>C (p.Gly1379Arg) c.4069G>C (p.Gly1357Arg) c.4066G>C (p.Gly1356Arg) c.4057G>C (p.Gly1353Arg) c.4000G>C (p.Gly1334Arg) c.3883G>C (p.Gly1295Arg) | |
3 | g.77644766G>T | CA353533410 | ROBO2 | c.4192G>T (p.Gly1398Ter) c.4183G>T (p.Gly1395Ter) c.4078G>T (p.Gly1360Ter) c.4270G>T (p.Gly1424Ter) c.*940G>T (n.*940G>T) c.4282G>T (p.Gly1428Ter) c.4456G>T (p.Gly1486Ter) c.*2430G>T (n.*2430G>T) c.4123G>T (p.Gly1375Ter) c.538G>T (p.Gly180Ter) c.4180G>T (p.Gly1394Ter) c.3997G>T (p.Gly1333Ter) n.5985G>T c.*2441G>T (n.*2441G>T) c.491G>T c.4045G>T (p.Gly1349Ter) c.455G>T c.3613G>T (p.Gly1205Ter) c.4009G>T (p.Gly1337Ter) c.2218G>T (p.Gly740Ter) c.4660G>T (p.Gly1554Ter) c.4534G>T (p.Gly1512Ter) c.4477G>T (p.Gly1493Ter) c.4204G>T (p.Gly1402Ter) c.4591G>T (p.Gly1531Ter) c.4525G>T (p.Gly1509Ter) c.4465G>T (p.Gly1489Ter) c.4351G>T (p.Gly1451Ter) c.4330G>T (p.Gly1444Ter) c.4195G>T (p.Gly1399Ter) c.4135G>T (p.Gly1379Ter) c.4069G>T (p.Gly1357Ter) c.4066G>T (p.Gly1356Ter) c.4057G>T (p.Gly1353Ter) c.4000G>T (p.Gly1334Ter) c.3883G>T (p.Gly1295Ter) | |
3 | g.77644767G>A | CA353533416 | ROBO2 | c.4193G>A (p.Gly1398Glu) c.4184G>A (p.Gly1395Glu) c.4079G>A (p.Gly1360Glu) c.4271G>A (p.Gly1424Glu) c.*941G>A (n.*941G>A) c.4283G>A (p.Gly1428Glu) c.4457G>A (p.Gly1486Glu) c.*2431G>A (n.*2431G>A) c.4124G>A (p.Gly1375Glu) c.539G>A (p.Gly180Glu) c.4181G>A (p.Gly1394Glu) c.3998G>A (p.Gly1333Glu) n.5986G>A c.*2442G>A (n.*2442G>A) c.492G>A c.4046G>A (p.Gly1349Glu) c.456G>A c.3614G>A (p.Gly1205Glu) c.4010G>A (p.Gly1337Glu) c.2219G>A (p.Gly740Glu) c.4661G>A (p.Gly1554Glu) c.4535G>A (p.Gly1512Glu) c.4478G>A (p.Gly1493Glu) c.4205G>A (p.Gly1402Glu) c.4592G>A (p.Gly1531Glu) c.4526G>A (p.Gly1509Glu) c.4466G>A (p.Gly1489Glu) c.4352G>A (p.Gly1451Glu) c.4331G>A (p.Gly1444Glu) c.4196G>A (p.Gly1399Glu) c.4136G>A (p.Gly1379Glu) c.4070G>A (p.Gly1357Glu) c.4067G>A (p.Gly1356Glu) c.4058G>A (p.Gly1353Glu) c.4001G>A (p.Gly1334Glu) c.3884G>A (p.Gly1295Glu) | |
3 | g.77644767G>C | CA353533415 | ROBO2 | c.4193G>C (p.Gly1398Ala) c.4184G>C (p.Gly1395Ala) c.4079G>C (p.Gly1360Ala) c.4271G>C (p.Gly1424Ala) c.*941G>C (n.*941G>C) c.4283G>C (p.Gly1428Ala) c.4457G>C (p.Gly1486Ala) c.*2431G>C (n.*2431G>C) c.4124G>C (p.Gly1375Ala) c.539G>C (p.Gly180Ala) c.4181G>C (p.Gly1394Ala) c.3998G>C (p.Gly1333Ala) n.5986G>C c.*2442G>C (n.*2442G>C) c.492G>C c.4046G>C (p.Gly1349Ala) c.456G>C c.3614G>C (p.Gly1205Ala) c.4010G>C (p.Gly1337Ala) c.2219G>C (p.Gly740Ala) c.4661G>C (p.Gly1554Ala) c.4535G>C (p.Gly1512Ala) c.4478G>C (p.Gly1493Ala) c.4205G>C (p.Gly1402Ala) c.4592G>C (p.Gly1531Ala) c.4526G>C (p.Gly1509Ala) c.4466G>C (p.Gly1489Ala) c.4352G>C (p.Gly1451Ala) c.4331G>C (p.Gly1444Ala) c.4196G>C (p.Gly1399Ala) c.4136G>C (p.Gly1379Ala) c.4070G>C (p.Gly1357Ala) c.4067G>C (p.Gly1356Ala) c.4058G>C (p.Gly1353Ala) c.4001G>C (p.Gly1334Ala) c.3884G>C (p.Gly1295Ala) | |
3 | g.77644767G>T | CA353533413 | ROBO2 | c.4193G>T (p.Gly1398Val) c.4184G>T (p.Gly1395Val) c.4079G>T (p.Gly1360Val) c.4271G>T (p.Gly1424Val) c.*941G>T (n.*941G>T) c.4283G>T (p.Gly1428Val) c.4457G>T (p.Gly1486Val) c.*2431G>T (n.*2431G>T) c.4124G>T (p.Gly1375Val) c.539G>T (p.Gly180Val) c.4181G>T (p.Gly1394Val) c.3998G>T (p.Gly1333Val) n.5986G>T c.*2442G>T (n.*2442G>T) c.492G>T c.4046G>T (p.Gly1349Val) c.456G>T c.3614G>T (p.Gly1205Val) c.4010G>T (p.Gly1337Val) c.2219G>T (p.Gly740Val) c.4661G>T (p.Gly1554Val) c.4535G>T (p.Gly1512Val) c.4478G>T (p.Gly1493Val) c.4205G>T (p.Gly1402Val) c.4592G>T (p.Gly1531Val) c.4526G>T (p.Gly1509Val) c.4466G>T (p.Gly1489Val) c.4352G>T (p.Gly1451Val) c.4331G>T (p.Gly1444Val) c.4196G>T (p.Gly1399Val) c.4136G>T (p.Gly1379Val) c.4070G>T (p.Gly1357Val) c.4067G>T (p.Gly1356Val) c.4058G>T (p.Gly1353Val) c.4001G>T (p.Gly1334Val) c.3884G>T (p.Gly1295Val) | |
3 | g.77644768A= | CA1376777937 | ROBO2 | c.4194A= (p.Gly1398=) c.4185A= (p.Gly1395=) c.4080A= (p.Gly1360=) c.4272A= (p.Gly1424=) c.*942A= (n.*942A=) c.4284A= (p.Gly1428=) c.4458A= (p.Gly1486=) c.*2432A= (n.*2432A=) c.4125A= (p.Gly1375=) c.540A= (p.Gly180=) c.4182A= (p.Gly1394=) c.3999A= (p.Gly1333=) n.5987A= c.*2443A= (n.*2443A=) c.493A= c.4047A= (p.Gly1349=) c.457A= c.3615A= (p.Gly1205=) c.4011A= (p.Gly1337=) c.2220A= (p.Gly740=) c.4662A= (p.Gly1554=) c.4536A= (p.Gly1512=) c.4479A= (p.Gly1493=) c.4206A= (p.Gly1402=) c.4593A= (p.Gly1531=) c.4527A= (p.Gly1509=) c.4467A= (p.Gly1489=) c.4353A= (p.Gly1451=) c.4332A= (p.Gly1444=) c.4197A= (p.Gly1399=) c.4137A= (p.Gly1379=) c.4071A= (p.Gly1357=) c.4068A= (p.Gly1356=) c.4059A= (p.Gly1353=) c.4002A= (p.Gly1334=) c.3885A= (p.Gly1295=) | |
3 | g.77644768A>C | CA434435265 | ROBO2 | c.4194A>C (p.Gly1398=) c.4185A>C (p.Gly1395=) c.4080A>C (p.Gly1360=) c.4272A>C (p.Gly1424=) c.*942A>C (n.*942A>C) c.4284A>C (p.Gly1428=) c.4458A>C (p.Gly1486=) c.*2432A>C (n.*2432A>C) c.4125A>C (p.Gly1375=) c.540A>C (p.Gly180=) c.4182A>C (p.Gly1394=) c.3999A>C (p.Gly1333=) n.5987A>C c.*2443A>C (n.*2443A>C) c.493A>C c.4047A>C (p.Gly1349=) c.457A>C c.3615A>C (p.Gly1205=) c.4011A>C (p.Gly1337=) c.2220A>C (p.Gly740=) c.4662A>C (p.Gly1554=) c.4536A>C (p.Gly1512=) c.4479A>C (p.Gly1493=) c.4206A>C (p.Gly1402=) c.4593A>C (p.Gly1531=) c.4527A>C (p.Gly1509=) c.4467A>C (p.Gly1489=) c.4353A>C (p.Gly1451=) c.4332A>C (p.Gly1444=) c.4197A>C (p.Gly1399=) c.4137A>C (p.Gly1379=) c.4071A>C (p.Gly1357=) c.4068A>C (p.Gly1356=) c.4059A>C (p.Gly1353=) c.4002A>C (p.Gly1334=) c.3885A>C (p.Gly1295=) | |
3 | g.77644768A>G | CA434435266 | ROBO2 | c.4194A>G (p.Gly1398=) c.4185A>G (p.Gly1395=) c.4080A>G (p.Gly1360=) c.4272A>G (p.Gly1424=) c.*942A>G (n.*942A>G) c.4284A>G (p.Gly1428=) c.4458A>G (p.Gly1486=) c.*2432A>G (n.*2432A>G) c.4125A>G (p.Gly1375=) c.540A>G (p.Gly180=) c.4182A>G (p.Gly1394=) c.3999A>G (p.Gly1333=) n.5987A>G c.*2443A>G (n.*2443A>G) c.493A>G c.4047A>G (p.Gly1349=) c.457A>G c.3615A>G (p.Gly1205=) c.4011A>G (p.Gly1337=) c.2220A>G (p.Gly740=) c.4662A>G (p.Gly1554=) c.4536A>G (p.Gly1512=) c.4479A>G (p.Gly1493=) c.4206A>G (p.Gly1402=) c.4593A>G (p.Gly1531=) c.4527A>G (p.Gly1509=) c.4467A>G (p.Gly1489=) c.4353A>G (p.Gly1451=) c.4332A>G (p.Gly1444=) c.4197A>G (p.Gly1399=) c.4137A>G (p.Gly1379=) c.4071A>G (p.Gly1357=) c.4068A>G (p.Gly1356=) c.4059A>G (p.Gly1353=) c.4002A>G (p.Gly1334=) c.3885A>G (p.Gly1295=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644768A>T | CA434435267 | ROBO2 | c.4194A>T (p.Gly1398=) c.4185A>T (p.Gly1395=) c.4080A>T (p.Gly1360=) c.4272A>T (p.Gly1424=) c.*942A>T (n.*942A>T) c.4284A>T (p.Gly1428=) c.4458A>T (p.Gly1486=) c.*2432A>T (n.*2432A>T) c.4125A>T (p.Gly1375=) c.540A>T (p.Gly180=) c.4182A>T (p.Gly1394=) c.3999A>T (p.Gly1333=) n.5987A>T c.*2443A>T (n.*2443A>T) c.493A>T c.4047A>T (p.Gly1349=) c.457A>T c.3615A>T (p.Gly1205=) c.4011A>T (p.Gly1337=) c.2220A>T (p.Gly740=) c.4662A>T (p.Gly1554=) c.4536A>T (p.Gly1512=) c.4479A>T (p.Gly1493=) c.4206A>T (p.Gly1402=) c.4593A>T (p.Gly1531=) c.4527A>T (p.Gly1509=) c.4467A>T (p.Gly1489=) c.4353A>T (p.Gly1451=) c.4332A>T (p.Gly1444=) c.4197A>T (p.Gly1399=) c.4137A>T (p.Gly1379=) c.4071A>T (p.Gly1357=) c.4068A>T (p.Gly1356=) c.4059A>T (p.Gly1353=) c.4002A>T (p.Gly1334=) c.3885A>T (p.Gly1295=) | |
3 | g.77644769A>C | CA353533420 | ROBO2 | c.4195A>C (p.Thr1399Pro) c.4186A>C (p.Thr1396Pro) c.4081A>C (p.Thr1361Pro) c.4273A>C (p.Thr1425Pro) c.*943A>C (n.*943A>C) c.4285A>C (p.Thr1429Pro) c.4459A>C (p.Thr1487Pro) c.*2433A>C (n.*2433A>C) c.4126A>C (p.Thr1376Pro) c.541A>C (p.Thr181Pro) c.4183A>C (p.Thr1395Pro) c.4000A>C (p.Thr1334Pro) n.5988A>C c.*2444A>C (n.*2444A>C) c.494A>C c.4048A>C (p.Thr1350Pro) c.458A>C c.3616A>C (p.Thr1206Pro) c.4012A>C (p.Thr1338Pro) c.2221A>C (p.Thr741Pro) c.4663A>C (p.Thr1555Pro) c.4537A>C (p.Thr1513Pro) c.4480A>C (p.Thr1494Pro) c.4207A>C (p.Thr1403Pro) c.4594A>C (p.Thr1532Pro) c.4528A>C (p.Thr1510Pro) c.4468A>C (p.Thr1490Pro) c.4354A>C (p.Thr1452Pro) c.4333A>C (p.Thr1445Pro) c.4198A>C (p.Thr1400Pro) c.4138A>C (p.Thr1380Pro) c.4072A>C (p.Thr1358Pro) c.4069A>C (p.Thr1357Pro) c.4060A>C (p.Thr1354Pro) c.4003A>C (p.Thr1335Pro) c.3886A>C (p.Thr1296Pro) | |
3 | g.77644769A>G | CA353533421 | ROBO2 | c.4195A>G (p.Thr1399Ala) c.4186A>G (p.Thr1396Ala) c.4081A>G (p.Thr1361Ala) c.4273A>G (p.Thr1425Ala) c.*943A>G (n.*943A>G) c.4285A>G (p.Thr1429Ala) c.4459A>G (p.Thr1487Ala) c.*2433A>G (n.*2433A>G) c.4126A>G (p.Thr1376Ala) c.541A>G (p.Thr181Ala) c.4183A>G (p.Thr1395Ala) c.4000A>G (p.Thr1334Ala) n.5988A>G c.*2444A>G (n.*2444A>G) c.494A>G c.4048A>G (p.Thr1350Ala) c.458A>G c.3616A>G (p.Thr1206Ala) c.4012A>G (p.Thr1338Ala) c.2221A>G (p.Thr741Ala) c.4663A>G (p.Thr1555Ala) c.4537A>G (p.Thr1513Ala) c.4480A>G (p.Thr1494Ala) c.4207A>G (p.Thr1403Ala) c.4594A>G (p.Thr1532Ala) c.4528A>G (p.Thr1510Ala) c.4468A>G (p.Thr1490Ala) c.4354A>G (p.Thr1452Ala) c.4333A>G (p.Thr1445Ala) c.4198A>G (p.Thr1400Ala) c.4138A>G (p.Thr1380Ala) c.4072A>G (p.Thr1358Ala) c.4069A>G (p.Thr1357Ala) c.4060A>G (p.Thr1354Ala) c.4003A>G (p.Thr1335Ala) c.3886A>G (p.Thr1296Ala) | gnomAD v4 |
3 | g.77644769A>T | CA353533423 | ROBO2 | c.4195A>T (p.Thr1399Ser) c.4186A>T (p.Thr1396Ser) c.4081A>T (p.Thr1361Ser) c.4273A>T (p.Thr1425Ser) c.*943A>T (n.*943A>T) c.4285A>T (p.Thr1429Ser) c.4459A>T (p.Thr1487Ser) c.*2433A>T (n.*2433A>T) c.4126A>T (p.Thr1376Ser) c.541A>T (p.Thr181Ser) c.4183A>T (p.Thr1395Ser) c.4000A>T (p.Thr1334Ser) n.5988A>T c.*2444A>T (n.*2444A>T) c.494A>T c.4048A>T (p.Thr1350Ser) c.458A>T c.3616A>T (p.Thr1206Ser) c.4012A>T (p.Thr1338Ser) c.2221A>T (p.Thr741Ser) c.4663A>T (p.Thr1555Ser) c.4537A>T (p.Thr1513Ser) c.4480A>T (p.Thr1494Ser) c.4207A>T (p.Thr1403Ser) c.4594A>T (p.Thr1532Ser) c.4528A>T (p.Thr1510Ser) c.4468A>T (p.Thr1490Ser) c.4354A>T (p.Thr1452Ser) c.4333A>T (p.Thr1445Ser) c.4198A>T (p.Thr1400Ser) c.4138A>T (p.Thr1380Ser) c.4072A>T (p.Thr1358Ser) c.4069A>T (p.Thr1357Ser) c.4060A>T (p.Thr1354Ser) c.4003A>T (p.Thr1335Ser) c.3886A>T (p.Thr1296Ser) | |
3 | g.77644770C>A | CA353533426 | ROBO2 | c.4196C>A (p.Thr1399Lys) c.4187C>A (p.Thr1396Lys) c.4082C>A (p.Thr1361Lys) c.4274C>A (p.Thr1425Lys) c.*944C>A (n.*944C>A) c.4286C>A (p.Thr1429Lys) c.4460C>A (p.Thr1487Lys) c.*2434C>A (n.*2434C>A) c.4127C>A (p.Thr1376Lys) c.542C>A (p.Thr181Lys) c.4184C>A (p.Thr1395Lys) c.4001C>A (p.Thr1334Lys) n.5989C>A c.*2445C>A (n.*2445C>A) c.495C>A c.4049C>A (p.Thr1350Lys) c.459C>A c.3617C>A (p.Thr1206Lys) c.4013C>A (p.Thr1338Lys) c.2222C>A (p.Thr741Lys) c.4664C>A (p.Thr1555Lys) c.4538C>A (p.Thr1513Lys) c.4481C>A (p.Thr1494Lys) c.4208C>A (p.Thr1403Lys) c.4595C>A (p.Thr1532Lys) c.4529C>A (p.Thr1510Lys) c.4469C>A (p.Thr1490Lys) c.4355C>A (p.Thr1452Lys) c.4334C>A (p.Thr1445Lys) c.4199C>A (p.Thr1400Lys) c.4139C>A (p.Thr1380Lys) c.4073C>A (p.Thr1358Lys) c.4070C>A (p.Thr1357Lys) c.4061C>A (p.Thr1354Lys) c.4004C>A (p.Thr1335Lys) c.3887C>A (p.Thr1296Lys) | |
3 | g.77644770C>G | CA353533427 | ROBO2 | c.4196C>G (p.Thr1399Arg) c.4187C>G (p.Thr1396Arg) c.4082C>G (p.Thr1361Arg) c.4274C>G (p.Thr1425Arg) c.*944C>G (n.*944C>G) c.4286C>G (p.Thr1429Arg) c.4460C>G (p.Thr1487Arg) c.*2434C>G (n.*2434C>G) c.4127C>G (p.Thr1376Arg) c.542C>G (p.Thr181Arg) c.4184C>G (p.Thr1395Arg) c.4001C>G (p.Thr1334Arg) n.5989C>G c.*2445C>G (n.*2445C>G) c.495C>G c.4049C>G (p.Thr1350Arg) c.459C>G c.3617C>G (p.Thr1206Arg) c.4013C>G (p.Thr1338Arg) c.2222C>G (p.Thr741Arg) c.4664C>G (p.Thr1555Arg) c.4538C>G (p.Thr1513Arg) c.4481C>G (p.Thr1494Arg) c.4208C>G (p.Thr1403Arg) c.4595C>G (p.Thr1532Arg) c.4529C>G (p.Thr1510Arg) c.4469C>G (p.Thr1490Arg) c.4355C>G (p.Thr1452Arg) c.4334C>G (p.Thr1445Arg) c.4199C>G (p.Thr1400Arg) c.4139C>G (p.Thr1380Arg) c.4073C>G (p.Thr1358Arg) c.4070C>G (p.Thr1357Arg) c.4061C>G (p.Thr1354Arg) c.4004C>G (p.Thr1335Arg) c.3887C>G (p.Thr1296Arg) | COSMIC COSMIC |
3 | g.77644770C>T | CA353533429 | ROBO2 | c.4196C>T (p.Thr1399Ile) c.4187C>T (p.Thr1396Ile) c.4082C>T (p.Thr1361Ile) c.4274C>T (p.Thr1425Ile) c.*944C>T (n.*944C>T) c.4286C>T (p.Thr1429Ile) c.4460C>T (p.Thr1487Ile) c.*2434C>T (n.*2434C>T) c.4127C>T (p.Thr1376Ile) c.542C>T (p.Thr181Ile) c.4184C>T (p.Thr1395Ile) c.4001C>T (p.Thr1334Ile) n.5989C>T c.*2445C>T (n.*2445C>T) c.495C>T c.4049C>T (p.Thr1350Ile) c.459C>T c.3617C>T (p.Thr1206Ile) c.4013C>T (p.Thr1338Ile) c.2222C>T (p.Thr741Ile) c.4664C>T (p.Thr1555Ile) c.4538C>T (p.Thr1513Ile) c.4481C>T (p.Thr1494Ile) c.4208C>T (p.Thr1403Ile) c.4595C>T (p.Thr1532Ile) c.4529C>T (p.Thr1510Ile) c.4469C>T (p.Thr1490Ile) c.4355C>T (p.Thr1452Ile) c.4334C>T (p.Thr1445Ile) c.4199C>T (p.Thr1400Ile) c.4139C>T (p.Thr1380Ile) c.4073C>T (p.Thr1358Ile) c.4070C>T (p.Thr1357Ile) c.4061C>T (p.Thr1354Ile) c.4004C>T (p.Thr1335Ile) c.3887C>T (p.Thr1296Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644771A>C | CA434435268 | ROBO2 | c.4197A>C (p.Thr1399=) c.4188A>C (p.Thr1396=) c.4083A>C (p.Thr1361=) c.4275A>C (p.Thr1425=) c.*945A>C (n.*945A>C) c.4287A>C (p.Thr1429=) c.4461A>C (p.Thr1487=) c.*2435A>C (n.*2435A>C) c.4128A>C (p.Thr1376=) c.543A>C (p.Thr181=) c.4185A>C (p.Thr1395=) c.4002A>C (p.Thr1334=) n.5990A>C c.*2446A>C (n.*2446A>C) c.496A>C c.4050A>C (p.Thr1350=) c.460A>C c.3618A>C (p.Thr1206=) c.4014A>C (p.Thr1338=) c.2223A>C (p.Thr741=) c.4665A>C (p.Thr1555=) c.4539A>C (p.Thr1513=) c.4482A>C (p.Thr1494=) c.4209A>C (p.Thr1403=) c.4596A>C (p.Thr1532=) c.4530A>C (p.Thr1510=) c.4470A>C (p.Thr1490=) c.4356A>C (p.Thr1452=) c.4335A>C (p.Thr1445=) c.4200A>C (p.Thr1400=) c.4140A>C (p.Thr1380=) c.4074A>C (p.Thr1358=) c.4071A>C (p.Thr1357=) c.4062A>C (p.Thr1354=) c.4005A>C (p.Thr1335=) c.3888A>C (p.Thr1296=) | |
3 | g.77644771A>G | CA434435269 | ROBO2 | c.4197A>G (p.Thr1399=) c.4188A>G (p.Thr1396=) c.4083A>G (p.Thr1361=) c.4275A>G (p.Thr1425=) c.*945A>G (n.*945A>G) c.4287A>G (p.Thr1429=) c.4461A>G (p.Thr1487=) c.*2435A>G (n.*2435A>G) c.4128A>G (p.Thr1376=) c.543A>G (p.Thr181=) c.4185A>G (p.Thr1395=) c.4002A>G (p.Thr1334=) n.5990A>G c.*2446A>G (n.*2446A>G) c.496A>G c.4050A>G (p.Thr1350=) c.460A>G c.3618A>G (p.Thr1206=) c.4014A>G (p.Thr1338=) c.2223A>G (p.Thr741=) c.4665A>G (p.Thr1555=) c.4539A>G (p.Thr1513=) c.4482A>G (p.Thr1494=) c.4209A>G (p.Thr1403=) c.4596A>G (p.Thr1532=) c.4530A>G (p.Thr1510=) c.4470A>G (p.Thr1490=) c.4356A>G (p.Thr1452=) c.4335A>G (p.Thr1445=) c.4200A>G (p.Thr1400=) c.4140A>G (p.Thr1380=) c.4074A>G (p.Thr1358=) c.4071A>G (p.Thr1357=) c.4062A>G (p.Thr1354=) c.4005A>G (p.Thr1335=) c.3888A>G (p.Thr1296=) | COSMIC COSMIC |
3 | g.77644771A>T | CA434435270 | ROBO2 | c.4197A>T (p.Thr1399=) c.4188A>T (p.Thr1396=) c.4083A>T (p.Thr1361=) c.4275A>T (p.Thr1425=) c.*945A>T (n.*945A>T) c.4287A>T (p.Thr1429=) c.4461A>T (p.Thr1487=) c.*2435A>T (n.*2435A>T) c.4128A>T (p.Thr1376=) c.543A>T (p.Thr181=) c.4185A>T (p.Thr1395=) c.4002A>T (p.Thr1334=) n.5990A>T c.*2446A>T (n.*2446A>T) c.496A>T c.4050A>T (p.Thr1350=) c.460A>T c.3618A>T (p.Thr1206=) c.4014A>T (p.Thr1338=) c.2223A>T (p.Thr741=) c.4665A>T (p.Thr1555=) c.4539A>T (p.Thr1513=) c.4482A>T (p.Thr1494=) c.4209A>T (p.Thr1403=) c.4596A>T (p.Thr1532=) c.4530A>T (p.Thr1510=) c.4470A>T (p.Thr1490=) c.4356A>T (p.Thr1452=) c.4335A>T (p.Thr1445=) c.4200A>T (p.Thr1400=) c.4140A>T (p.Thr1380=) c.4074A>T (p.Thr1358=) c.4071A>T (p.Thr1357=) c.4062A>T (p.Thr1354=) c.4005A>T (p.Thr1335=) c.3888A>T (p.Thr1296=) | |
3 | g.77644772G>A | CA353533431 | ROBO2 | c.4198G>A (p.Ala1400Thr) c.4189G>A (p.Ala1397Thr) c.4084G>A (p.Ala1362Thr) c.4276G>A (p.Ala1426Thr) c.*946G>A (n.*946G>A) c.4288G>A (p.Ala1430Thr) c.4462G>A (p.Ala1488Thr) c.*2436G>A (n.*2436G>A) c.4129G>A (p.Ala1377Thr) c.544G>A (p.Ala182Thr) c.4186G>A (p.Ala1396Thr) c.4003G>A (p.Ala1335Thr) n.5991G>A c.*2447G>A (n.*2447G>A) c.497G>A c.4051G>A (p.Ala1351Thr) c.461G>A c.3619G>A (p.Ala1207Thr) c.4015G>A (p.Ala1339Thr) c.2224G>A (p.Ala742Thr) c.4666G>A (p.Ala1556Thr) c.4540G>A (p.Ala1514Thr) c.4483G>A (p.Ala1495Thr) c.4210G>A (p.Ala1404Thr) c.4597G>A (p.Ala1533Thr) c.4531G>A (p.Ala1511Thr) c.4471G>A (p.Ala1491Thr) c.4357G>A (p.Ala1453Thr) c.4336G>A (p.Ala1446Thr) c.4201G>A (p.Ala1401Thr) c.4141G>A (p.Ala1381Thr) c.4075G>A (p.Ala1359Thr) c.4072G>A (p.Ala1358Thr) c.4063G>A (p.Ala1355Thr) c.4006G>A (p.Ala1336Thr) c.3889G>A (p.Ala1297Thr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644772G>C | CA353533432 | ROBO2 | c.4198G>C (p.Ala1400Pro) c.4189G>C (p.Ala1397Pro) c.4084G>C (p.Ala1362Pro) c.4276G>C (p.Ala1426Pro) c.*946G>C (n.*946G>C) c.4288G>C (p.Ala1430Pro) c.4462G>C (p.Ala1488Pro) c.*2436G>C (n.*2436G>C) c.4129G>C (p.Ala1377Pro) c.544G>C (p.Ala182Pro) c.4186G>C (p.Ala1396Pro) c.4003G>C (p.Ala1335Pro) n.5991G>C c.*2447G>C (n.*2447G>C) c.497G>C c.4051G>C (p.Ala1351Pro) c.461G>C c.3619G>C (p.Ala1207Pro) c.4015G>C (p.Ala1339Pro) c.2224G>C (p.Ala742Pro) c.4666G>C (p.Ala1556Pro) c.4540G>C (p.Ala1514Pro) c.4483G>C (p.Ala1495Pro) c.4210G>C (p.Ala1404Pro) c.4597G>C (p.Ala1533Pro) c.4531G>C (p.Ala1511Pro) c.4471G>C (p.Ala1491Pro) c.4357G>C (p.Ala1453Pro) c.4336G>C (p.Ala1446Pro) c.4201G>C (p.Ala1401Pro) c.4141G>C (p.Ala1381Pro) c.4075G>C (p.Ala1359Pro) c.4072G>C (p.Ala1358Pro) c.4063G>C (p.Ala1355Pro) c.4006G>C (p.Ala1336Pro) c.3889G>C (p.Ala1297Pro) | |
3 | g.77644772G= | CA1376777938 | ROBO2 | c.4198G= (p.Ala1400=) c.4189G= (p.Ala1397=) c.4084G= (p.Ala1362=) c.4276G= (p.Ala1426=) c.*946G= (n.*946G=) c.4288G= (p.Ala1430=) c.4462G= (p.Ala1488=) c.*2436G= (n.*2436G=) c.4129G= (p.Ala1377=) c.544G= (p.Ala182=) c.4186G= (p.Ala1396=) c.4003G= (p.Ala1335=) n.5991G= c.*2447G= (n.*2447G=) c.497G= c.4051G= (p.Ala1351=) c.461G= c.3619G= (p.Ala1207=) c.4015G= (p.Ala1339=) c.2224G= (p.Ala742=) c.4666G= (p.Ala1556=) c.4540G= (p.Ala1514=) c.4483G= (p.Ala1495=) c.4210G= (p.Ala1404=) c.4597G= (p.Ala1533=) c.4531G= (p.Ala1511=) c.4471G= (p.Ala1491=) c.4357G= (p.Ala1453=) c.4336G= (p.Ala1446=) c.4201G= (p.Ala1401=) c.4141G= (p.Ala1381=) c.4075G= (p.Ala1359=) c.4072G= (p.Ala1358=) c.4063G= (p.Ala1355=) c.4006G= (p.Ala1336=) c.3889G= (p.Ala1297=) | |
3 | g.77644772G>T | CA353533434 | ROBO2 | c.4198G>T (p.Ala1400Ser) c.4189G>T (p.Ala1397Ser) c.4084G>T (p.Ala1362Ser) c.4276G>T (p.Ala1426Ser) c.*946G>T (n.*946G>T) c.4288G>T (p.Ala1430Ser) c.4462G>T (p.Ala1488Ser) c.*2436G>T (n.*2436G>T) c.4129G>T (p.Ala1377Ser) c.544G>T (p.Ala182Ser) c.4186G>T (p.Ala1396Ser) c.4003G>T (p.Ala1335Ser) n.5991G>T c.*2447G>T (n.*2447G>T) c.497G>T c.4051G>T (p.Ala1351Ser) c.461G>T c.3619G>T (p.Ala1207Ser) c.4015G>T (p.Ala1339Ser) c.2224G>T (p.Ala742Ser) c.4666G>T (p.Ala1556Ser) c.4540G>T (p.Ala1514Ser) c.4483G>T (p.Ala1495Ser) c.4210G>T (p.Ala1404Ser) c.4597G>T (p.Ala1533Ser) c.4531G>T (p.Ala1511Ser) c.4471G>T (p.Ala1491Ser) c.4357G>T (p.Ala1453Ser) c.4336G>T (p.Ala1446Ser) c.4201G>T (p.Ala1401Ser) c.4141G>T (p.Ala1381Ser) c.4075G>T (p.Ala1359Ser) c.4072G>T (p.Ala1358Ser) c.4063G>T (p.Ala1355Ser) c.4006G>T (p.Ala1336Ser) c.3889G>T (p.Ala1297Ser) | |
3 | g.77644772_77644775delinsGCTT | CA1376777939 | ROBO2 | c.4198_4201delinsGCTT (p.Ala1400=) c.4189_4192delinsGCTT (p.Ala1397=) c.4084_4087delinsGCTT (p.Ala1362=) c.4276_4279delinsGCTT (p.Ala1426=) c.*946_*949delinsGCTT (n.*946_*949delinsGCTT) c.4288_4291delinsGCTT (p.Ala1430=) c.4462_4465delinsGCTT (p.Ala1488=) c.*2436_*2439delinsGCTT (n.*2436_*2439delinsGCTT) c.4129_4132delinsGCTT (p.Ala1377=) c.544_547delinsGCTT (p.Ala182=) c.4186_4189delinsGCTT (p.Ala1396=) c.4003_4006delinsGCTT (p.Ala1335=) n.5991_5994delinsGCTT c.*2447_*2450delinsGCTT (n.*2447_*2450delinsGCTT) c.497_500delinsGCTT c.4051_4054delinsGCTT (p.Ala1351=) c.461_464delinsGCTT c.3619_3622delinsGCTT (p.Ala1207=) c.4015_4018delinsGCTT (p.Ala1339=) c.2224_2227delinsGCTT (p.Ala742=) c.4666_4669delinsGCTT (p.Ala1556=) c.4540_4543delinsGCTT (p.Ala1514=) c.4483_4486delinsGCTT (p.Ala1495=) c.4210_4213delinsGCTT (p.Ala1404=) c.4597_4600delinsGCTT (p.Ala1533=) c.4531_4534delinsGCTT (p.Ala1511=) c.4471_4474delinsGCTT (p.Ala1491=) c.4357_4360delinsGCTT (p.Ala1453=) c.4336_4339delinsGCTT (p.Ala1446=) c.4201_4204delinsGCTT (p.Ala1401=) c.4141_4144delinsGCTT (p.Ala1381=) c.4075_4078delinsGCTT (p.Ala1359=) c.4072_4075delinsGCTT (p.Ala1358=) c.4063_4066delinsGCTT (p.Ala1355=) c.4006_4009delinsGCTT (p.Ala1336=) c.3889_3892delinsGCTT (p.Ala1297=) | |
3 | g.77644773C>A | CA353533437 | ROBO2 | c.4199C>A (p.Ala1400Asp) c.4190C>A (p.Ala1397Asp) c.4085C>A (p.Ala1362Asp) c.4277C>A (p.Ala1426Asp) c.*947C>A (n.*947C>A) c.4289C>A (p.Ala1430Asp) c.4463C>A (p.Ala1488Asp) c.*2437C>A (n.*2437C>A) c.4130C>A (p.Ala1377Asp) c.545C>A (p.Ala182Asp) c.4187C>A (p.Ala1396Asp) c.4004C>A (p.Ala1335Asp) n.5992C>A c.*2448C>A (n.*2448C>A) c.498C>A c.4052C>A (p.Ala1351Asp) c.462C>A c.3620C>A (p.Ala1207Asp) c.4016C>A (p.Ala1339Asp) c.2225C>A (p.Ala742Asp) c.4667C>A (p.Ala1556Asp) c.4541C>A (p.Ala1514Asp) c.4484C>A (p.Ala1495Asp) c.4211C>A (p.Ala1404Asp) c.4598C>A (p.Ala1533Asp) c.4532C>A (p.Ala1511Asp) c.4472C>A (p.Ala1491Asp) c.4358C>A (p.Ala1453Asp) c.4337C>A (p.Ala1446Asp) c.4202C>A (p.Ala1401Asp) c.4142C>A (p.Ala1381Asp) c.4076C>A (p.Ala1359Asp) c.4073C>A (p.Ala1358Asp) c.4064C>A (p.Ala1355Asp) c.4007C>A (p.Ala1336Asp) c.3890C>A (p.Ala1297Asp) | |
3 | g.77644773C= | CA1376777940 | ROBO2 | c.4199C= (p.Ala1400=) c.4190C= (p.Ala1397=) c.4085C= (p.Ala1362=) c.4277C= (p.Ala1426=) c.*947C= (n.*947C=) c.4289C= (p.Ala1430=) c.4463C= (p.Ala1488=) c.*2437C= (n.*2437C=) c.4130C= (p.Ala1377=) c.545C= (p.Ala182=) c.4187C= (p.Ala1396=) c.4004C= (p.Ala1335=) n.5992C= c.*2448C= (n.*2448C=) c.498C= c.4052C= (p.Ala1351=) c.462C= c.3620C= (p.Ala1207=) c.4016C= (p.Ala1339=) c.2225C= (p.Ala742=) c.4667C= (p.Ala1556=) c.4541C= (p.Ala1514=) c.4484C= (p.Ala1495=) c.4211C= (p.Ala1404=) c.4598C= (p.Ala1533=) c.4532C= (p.Ala1511=) c.4472C= (p.Ala1491=) c.4358C= (p.Ala1453=) c.4337C= (p.Ala1446=) c.4202C= (p.Ala1401=) c.4142C= (p.Ala1381=) c.4076C= (p.Ala1359=) c.4073C= (p.Ala1358=) c.4064C= (p.Ala1355=) c.4007C= (p.Ala1336=) c.3890C= (p.Ala1297=) | |
3 | g.77644773C>G | CA353533440 | ROBO2 | c.4199C>G (p.Ala1400Gly) c.4190C>G (p.Ala1397Gly) c.4085C>G (p.Ala1362Gly) c.4277C>G (p.Ala1426Gly) c.*947C>G (n.*947C>G) c.4289C>G (p.Ala1430Gly) c.4463C>G (p.Ala1488Gly) c.*2437C>G (n.*2437C>G) c.4130C>G (p.Ala1377Gly) c.545C>G (p.Ala182Gly) c.4187C>G (p.Ala1396Gly) c.4004C>G (p.Ala1335Gly) n.5992C>G c.*2448C>G (n.*2448C>G) c.498C>G c.4052C>G (p.Ala1351Gly) c.462C>G c.3620C>G (p.Ala1207Gly) c.4016C>G (p.Ala1339Gly) c.2225C>G (p.Ala742Gly) c.4667C>G (p.Ala1556Gly) c.4541C>G (p.Ala1514Gly) c.4484C>G (p.Ala1495Gly) c.4211C>G (p.Ala1404Gly) c.4598C>G (p.Ala1533Gly) c.4532C>G (p.Ala1511Gly) c.4472C>G (p.Ala1491Gly) c.4358C>G (p.Ala1453Gly) c.4337C>G (p.Ala1446Gly) c.4202C>G (p.Ala1401Gly) c.4142C>G (p.Ala1381Gly) c.4076C>G (p.Ala1359Gly) c.4073C>G (p.Ala1358Gly) c.4064C>G (p.Ala1355Gly) c.4007C>G (p.Ala1336Gly) c.3890C>G (p.Ala1297Gly) | |
3 | g.77644773C>T | CA77532934 | ROBO2 | c.4199C>T (p.Ala1400Val) c.4190C>T (p.Ala1397Val) c.4085C>T (p.Ala1362Val) c.4277C>T (p.Ala1426Val) c.*947C>T (n.*947C>T) c.4289C>T (p.Ala1430Val) c.4463C>T (p.Ala1488Val) c.*2437C>T (n.*2437C>T) c.4130C>T (p.Ala1377Val) c.545C>T (p.Ala182Val) c.4187C>T (p.Ala1396Val) c.4004C>T (p.Ala1335Val) n.5992C>T c.*2448C>T (n.*2448C>T) c.498C>T c.4052C>T (p.Ala1351Val) c.462C>T c.3620C>T (p.Ala1207Val) c.4016C>T (p.Ala1339Val) c.2225C>T (p.Ala742Val) c.4667C>T (p.Ala1556Val) c.4541C>T (p.Ala1514Val) c.4484C>T (p.Ala1495Val) c.4211C>T (p.Ala1404Val) c.4598C>T (p.Ala1533Val) c.4532C>T (p.Ala1511Val) c.4472C>T (p.Ala1491Val) c.4358C>T (p.Ala1453Val) c.4337C>T (p.Ala1446Val) c.4202C>T (p.Ala1401Val) c.4142C>T (p.Ala1381Val) c.4076C>T (p.Ala1359Val) c.4073C>T (p.Ala1358Val) c.4064C>T (p.Ala1355Val) c.4007C>T (p.Ala1336Val) c.3890C>T (p.Ala1297Val) | dbSNP |
3 | g.77644778_77644780del | CA544501985 | ROBO2 | c.4204_4206del (p.Ser1402del) c.4195_4197del (p.Ser1399del) c.4090_4092del (p.Ser1364del) c.4282_4284del (p.Ser1428del) c.*952_*954del (n.*952_*954del) c.4294_4296del (p.Ser1432del) c.4468_4470del (p.Ser1490del) c.*2442_*2444del (n.*2442_*2444del) c.4135_4137del (p.Ser1379del) c.550_552del (p.Ser184del) c.4192_4194del (p.Ser1398del) c.4009_4011del (p.Ser1337del) n.5997_5999del c.*2453_*2455del (n.*2453_*2455del) c.503_505del c.4057_4059del (p.Ser1353del) c.467_469del c.3625_3627del (p.Ser1209del) c.4021_4023del (p.Ser1341del) c.2230_2232del (p.Ser744del) c.4672_4674del (p.Ser1558del) c.4546_4548del (p.Ser1516del) c.4489_4491del (p.Ser1497del) c.4216_4218del (p.Ser1406del) c.4603_4605del (p.Ser1535del) c.4537_4539del (p.Ser1513del) c.4477_4479del (p.Ser1493del) c.4363_4365del (p.Ser1455del) c.4342_4344del (p.Ser1448del) c.4207_4209del (p.Ser1403del) c.4147_4149del (p.Ser1383del) c.4081_4083del (p.Ser1361del) c.4078_4080del (p.Ser1360del) c.4069_4071del (p.Ser1357del) c.4012_4014del (p.Ser1338del) c.3895_3897del (p.Ser1299del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644774T>A | CA434435271 | ROBO2 | c.4200T>A (p.Ala1400=) c.4191T>A (p.Ala1397=) c.4086T>A (p.Ala1362=) c.4278T>A (p.Ala1426=) c.*948T>A (n.*948T>A) c.4290T>A (p.Ala1430=) c.4464T>A (p.Ala1488=) c.*2438T>A (n.*2438T>A) c.4131T>A (p.Ala1377=) c.546T>A (p.Ala182=) c.4188T>A (p.Ala1396=) c.4005T>A (p.Ala1335=) n.5993T>A c.*2449T>A (n.*2449T>A) c.499T>A c.4053T>A (p.Ala1351=) c.463T>A c.3621T>A (p.Ala1207=) c.4017T>A (p.Ala1339=) c.2226T>A (p.Ala742=) c.4668T>A (p.Ala1556=) c.4542T>A (p.Ala1514=) c.4485T>A (p.Ala1495=) c.4212T>A (p.Ala1404=) c.4599T>A (p.Ala1533=) c.4533T>A (p.Ala1511=) c.4473T>A (p.Ala1491=) c.4359T>A (p.Ala1453=) c.4338T>A (p.Ala1446=) c.4203T>A (p.Ala1401=) c.4143T>A (p.Ala1381=) c.4077T>A (p.Ala1359=) c.4074T>A (p.Ala1358=) c.4065T>A (p.Ala1355=) c.4008T>A (p.Ala1336=) c.3891T>A (p.Ala1297=) | |
3 | g.77644774T>C | CA434435272 | ROBO2 | c.4200T>C (p.Ala1400=) c.4191T>C (p.Ala1397=) c.4086T>C (p.Ala1362=) c.4278T>C (p.Ala1426=) c.*948T>C (n.*948T>C) c.4290T>C (p.Ala1430=) c.4464T>C (p.Ala1488=) c.*2438T>C (n.*2438T>C) c.4131T>C (p.Ala1377=) c.546T>C (p.Ala182=) c.4188T>C (p.Ala1396=) c.4005T>C (p.Ala1335=) n.5993T>C c.*2449T>C (n.*2449T>C) c.499T>C c.4053T>C (p.Ala1351=) c.463T>C c.3621T>C (p.Ala1207=) c.4017T>C (p.Ala1339=) c.2226T>C (p.Ala742=) c.4668T>C (p.Ala1556=) c.4542T>C (p.Ala1514=) c.4485T>C (p.Ala1495=) c.4212T>C (p.Ala1404=) c.4599T>C (p.Ala1533=) c.4533T>C (p.Ala1511=) c.4473T>C (p.Ala1491=) c.4359T>C (p.Ala1453=) c.4338T>C (p.Ala1446=) c.4203T>C (p.Ala1401=) c.4143T>C (p.Ala1381=) c.4077T>C (p.Ala1359=) c.4074T>C (p.Ala1358=) c.4065T>C (p.Ala1355=) c.4008T>C (p.Ala1336=) c.3891T>C (p.Ala1297=) | |
3 | g.77644774T>G | CA434435273 | ROBO2 | c.4200T>G (p.Ala1400=) c.4191T>G (p.Ala1397=) c.4086T>G (p.Ala1362=) c.4278T>G (p.Ala1426=) c.*948T>G (n.*948T>G) c.4290T>G (p.Ala1430=) c.4464T>G (p.Ala1488=) c.*2438T>G (n.*2438T>G) c.4131T>G (p.Ala1377=) c.546T>G (p.Ala182=) c.4188T>G (p.Ala1396=) c.4005T>G (p.Ala1335=) n.5993T>G c.*2449T>G (n.*2449T>G) c.499T>G c.4053T>G (p.Ala1351=) c.463T>G c.3621T>G (p.Ala1207=) c.4017T>G (p.Ala1339=) c.2226T>G (p.Ala742=) c.4668T>G (p.Ala1556=) c.4542T>G (p.Ala1514=) c.4485T>G (p.Ala1495=) c.4212T>G (p.Ala1404=) c.4599T>G (p.Ala1533=) c.4533T>G (p.Ala1511=) c.4473T>G (p.Ala1491=) c.4359T>G (p.Ala1453=) c.4338T>G (p.Ala1446=) c.4203T>G (p.Ala1401=) c.4143T>G (p.Ala1381=) c.4077T>G (p.Ala1359=) c.4074T>G (p.Ala1358=) c.4065T>G (p.Ala1355=) c.4008T>G (p.Ala1336=) c.3891T>G (p.Ala1297=) | |
3 | g.77644775T>A | CA353533447 | ROBO2 | c.4201T>A (p.Ser1401Thr) c.4192T>A (p.Ser1398Thr) c.4087T>A (p.Ser1363Thr) c.4279T>A (p.Ser1427Thr) c.*949T>A (n.*949T>A) c.4291T>A (p.Ser1431Thr) c.4465T>A (p.Ser1489Thr) c.*2439T>A (n.*2439T>A) c.4132T>A (p.Ser1378Thr) c.547T>A (p.Ser183Thr) c.4189T>A (p.Ser1397Thr) c.4006T>A (p.Ser1336Thr) n.5994T>A c.*2450T>A (n.*2450T>A) c.500T>A c.4054T>A (p.Ser1352Thr) c.464T>A c.3622T>A (p.Ser1208Thr) c.4018T>A (p.Ser1340Thr) c.2227T>A (p.Ser743Thr) c.4669T>A (p.Ser1557Thr) c.4543T>A (p.Ser1515Thr) c.4486T>A (p.Ser1496Thr) c.4213T>A (p.Ser1405Thr) c.4600T>A (p.Ser1534Thr) c.4534T>A (p.Ser1512Thr) c.4474T>A (p.Ser1492Thr) c.4360T>A (p.Ser1454Thr) c.4339T>A (p.Ser1447Thr) c.4204T>A (p.Ser1402Thr) c.4144T>A (p.Ser1382Thr) c.4078T>A (p.Ser1360Thr) c.4075T>A (p.Ser1359Thr) c.4066T>A (p.Ser1356Thr) c.4009T>A (p.Ser1337Thr) c.3892T>A (p.Ser1298Thr) | gnomAD v4 |
3 | g.77644775T>C | CA353533445 | ROBO2 | c.4201T>C (p.Ser1401Pro) c.4192T>C (p.Ser1398Pro) c.4087T>C (p.Ser1363Pro) c.4279T>C (p.Ser1427Pro) c.*949T>C (n.*949T>C) c.4291T>C (p.Ser1431Pro) c.4465T>C (p.Ser1489Pro) c.*2439T>C (n.*2439T>C) c.4132T>C (p.Ser1378Pro) c.547T>C (p.Ser183Pro) c.4189T>C (p.Ser1397Pro) c.4006T>C (p.Ser1336Pro) n.5994T>C c.*2450T>C (n.*2450T>C) c.500T>C c.4054T>C (p.Ser1352Pro) c.464T>C c.3622T>C (p.Ser1208Pro) c.4018T>C (p.Ser1340Pro) c.2227T>C (p.Ser743Pro) c.4669T>C (p.Ser1557Pro) c.4543T>C (p.Ser1515Pro) c.4486T>C (p.Ser1496Pro) c.4213T>C (p.Ser1405Pro) c.4600T>C (p.Ser1534Pro) c.4534T>C (p.Ser1512Pro) c.4474T>C (p.Ser1492Pro) c.4360T>C (p.Ser1454Pro) c.4339T>C (p.Ser1447Pro) c.4204T>C (p.Ser1402Pro) c.4144T>C (p.Ser1382Pro) c.4078T>C (p.Ser1360Pro) c.4075T>C (p.Ser1359Pro) c.4066T>C (p.Ser1356Pro) c.4009T>C (p.Ser1337Pro) c.3892T>C (p.Ser1298Pro) | |
3 | g.77644775T>G | CA77532936 | ROBO2 | c.4201T>G (p.Ser1401Ala) c.4192T>G (p.Ser1398Ala) c.4087T>G (p.Ser1363Ala) c.4279T>G (p.Ser1427Ala) c.*949T>G (n.*949T>G) c.4291T>G (p.Ser1431Ala) c.4465T>G (p.Ser1489Ala) c.*2439T>G (n.*2439T>G) c.4132T>G (p.Ser1378Ala) c.547T>G (p.Ser183Ala) c.4189T>G (p.Ser1397Ala) c.4006T>G (p.Ser1336Ala) n.5994T>G c.*2450T>G (n.*2450T>G) c.500T>G c.4054T>G (p.Ser1352Ala) c.464T>G c.3622T>G (p.Ser1208Ala) c.4018T>G (p.Ser1340Ala) c.2227T>G (p.Ser743Ala) c.4669T>G (p.Ser1557Ala) c.4543T>G (p.Ser1515Ala) c.4486T>G (p.Ser1496Ala) c.4213T>G (p.Ser1405Ala) c.4600T>G (p.Ser1534Ala) c.4534T>G (p.Ser1512Ala) c.4474T>G (p.Ser1492Ala) c.4360T>G (p.Ser1454Ala) c.4339T>G (p.Ser1447Ala) c.4204T>G (p.Ser1402Ala) c.4144T>G (p.Ser1382Ala) c.4078T>G (p.Ser1360Ala) c.4075T>G (p.Ser1359Ala) c.4066T>G (p.Ser1356Ala) c.4009T>G (p.Ser1337Ala) c.3892T>G (p.Ser1298Ala) | dbSNP gnomAD v4 |
3 | g.77644775T= | CA1376777941 | ROBO2 | c.4201T= (p.Ser1401=) c.4192T= (p.Ser1398=) c.4087T= (p.Ser1363=) c.4279T= (p.Ser1427=) c.*949T= (n.*949T=) c.4291T= (p.Ser1431=) c.4465T= (p.Ser1489=) c.*2439T= (n.*2439T=) c.4132T= (p.Ser1378=) c.547T= (p.Ser183=) c.4189T= (p.Ser1397=) c.4006T= (p.Ser1336=) n.5994T= c.*2450T= (n.*2450T=) c.500T= c.4054T= (p.Ser1352=) c.464T= c.3622T= (p.Ser1208=) c.4018T= (p.Ser1340=) c.2227T= (p.Ser743=) c.4669T= (p.Ser1557=) c.4543T= (p.Ser1515=) c.4486T= (p.Ser1496=) c.4213T= (p.Ser1405=) c.4600T= (p.Ser1534=) c.4534T= (p.Ser1512=) c.4474T= (p.Ser1492=) c.4360T= (p.Ser1454=) c.4339T= (p.Ser1447=) c.4204T= (p.Ser1402=) c.4144T= (p.Ser1382=) c.4078T= (p.Ser1360=) c.4075T= (p.Ser1359=) c.4066T= (p.Ser1356=) c.4009T= (p.Ser1337=) c.3892T= (p.Ser1298=) | |
3 | g.77644776C>A | CA353533449 | ROBO2 | c.4202C>A (p.Ser1401Tyr) c.4193C>A (p.Ser1398Tyr) c.4088C>A (p.Ser1363Tyr) c.4280C>A (p.Ser1427Tyr) c.*950C>A (n.*950C>A) c.4292C>A (p.Ser1431Tyr) c.4466C>A (p.Ser1489Tyr) c.*2440C>A (n.*2440C>A) c.4133C>A (p.Ser1378Tyr) c.548C>A (p.Ser183Tyr) c.4190C>A (p.Ser1397Tyr) c.4007C>A (p.Ser1336Tyr) n.5995C>A c.*2451C>A (n.*2451C>A) c.501C>A c.4055C>A (p.Ser1352Tyr) c.465C>A c.3623C>A (p.Ser1208Tyr) c.4019C>A (p.Ser1340Tyr) c.2228C>A (p.Ser743Tyr) c.4670C>A (p.Ser1557Tyr) c.4544C>A (p.Ser1515Tyr) c.4487C>A (p.Ser1496Tyr) c.4214C>A (p.Ser1405Tyr) c.4601C>A (p.Ser1534Tyr) c.4535C>A (p.Ser1512Tyr) c.4475C>A (p.Ser1492Tyr) c.4361C>A (p.Ser1454Tyr) c.4340C>A (p.Ser1447Tyr) c.4205C>A (p.Ser1402Tyr) c.4145C>A (p.Ser1382Tyr) c.4079C>A (p.Ser1360Tyr) c.4076C>A (p.Ser1359Tyr) c.4067C>A (p.Ser1356Tyr) c.4010C>A (p.Ser1337Tyr) c.3893C>A (p.Ser1298Tyr) | |
3 | g.77644776C>G | CA353533452 | ROBO2 | c.4202C>G (p.Ser1401Cys) c.4193C>G (p.Ser1398Cys) c.4088C>G (p.Ser1363Cys) c.4280C>G (p.Ser1427Cys) c.*950C>G (n.*950C>G) c.4292C>G (p.Ser1431Cys) c.4466C>G (p.Ser1489Cys) c.*2440C>G (n.*2440C>G) c.4133C>G (p.Ser1378Cys) c.548C>G (p.Ser183Cys) c.4190C>G (p.Ser1397Cys) c.4007C>G (p.Ser1336Cys) n.5995C>G c.*2451C>G (n.*2451C>G) c.501C>G c.4055C>G (p.Ser1352Cys) c.465C>G c.3623C>G (p.Ser1208Cys) c.4019C>G (p.Ser1340Cys) c.2228C>G (p.Ser743Cys) c.4670C>G (p.Ser1557Cys) c.4544C>G (p.Ser1515Cys) c.4487C>G (p.Ser1496Cys) c.4214C>G (p.Ser1405Cys) c.4601C>G (p.Ser1534Cys) c.4535C>G (p.Ser1512Cys) c.4475C>G (p.Ser1492Cys) c.4361C>G (p.Ser1454Cys) c.4340C>G (p.Ser1447Cys) c.4205C>G (p.Ser1402Cys) c.4145C>G (p.Ser1382Cys) c.4079C>G (p.Ser1360Cys) c.4076C>G (p.Ser1359Cys) c.4067C>G (p.Ser1356Cys) c.4010C>G (p.Ser1337Cys) c.3893C>G (p.Ser1298Cys) | |
3 | g.77644776C>T | CA353533450 | ROBO2 | c.4202C>T (p.Ser1401Phe) c.4193C>T (p.Ser1398Phe) c.4088C>T (p.Ser1363Phe) c.4280C>T (p.Ser1427Phe) c.*950C>T (n.*950C>T) c.4292C>T (p.Ser1431Phe) c.4466C>T (p.Ser1489Phe) c.*2440C>T (n.*2440C>T) c.4133C>T (p.Ser1378Phe) c.548C>T (p.Ser183Phe) c.4190C>T (p.Ser1397Phe) c.4007C>T (p.Ser1336Phe) n.5995C>T c.*2451C>T (n.*2451C>T) c.501C>T c.4055C>T (p.Ser1352Phe) c.465C>T c.3623C>T (p.Ser1208Phe) c.4019C>T (p.Ser1340Phe) c.2228C>T (p.Ser743Phe) c.4670C>T (p.Ser1557Phe) c.4544C>T (p.Ser1515Phe) c.4487C>T (p.Ser1496Phe) c.4214C>T (p.Ser1405Phe) c.4601C>T (p.Ser1534Phe) c.4535C>T (p.Ser1512Phe) c.4475C>T (p.Ser1492Phe) c.4361C>T (p.Ser1454Phe) c.4340C>T (p.Ser1447Phe) c.4205C>T (p.Ser1402Phe) c.4145C>T (p.Ser1382Phe) c.4079C>T (p.Ser1360Phe) c.4076C>T (p.Ser1359Phe) c.4067C>T (p.Ser1356Phe) c.4010C>T (p.Ser1337Phe) c.3893C>T (p.Ser1298Phe) | ClinVar COSMIC COSMIC |
3 | g.77644777T>A | CA2497825 | ROBO2 | c.4203T>A (p.Ser1401=) c.4194T>A (p.Ser1398=) c.4089T>A (p.Ser1363=) c.4281T>A (p.Ser1427=) c.*951T>A (n.*951T>A) c.4293T>A (p.Ser1431=) c.4467T>A (p.Ser1489=) c.*2441T>A (n.*2441T>A) c.4134T>A (p.Ser1378=) c.549T>A (p.Ser183=) c.4191T>A (p.Ser1397=) c.4008T>A (p.Ser1336=) n.5996T>A c.*2452T>A (n.*2452T>A) c.502T>A c.4056T>A (p.Ser1352=) c.466T>A c.3624T>A (p.Ser1208=) c.4020T>A (p.Ser1340=) c.2229T>A (p.Ser743=) c.4671T>A (p.Ser1557=) c.4545T>A (p.Ser1515=) c.4488T>A (p.Ser1496=) c.4215T>A (p.Ser1405=) c.4602T>A (p.Ser1534=) c.4536T>A (p.Ser1512=) c.4476T>A (p.Ser1492=) c.4362T>A (p.Ser1454=) c.4341T>A (p.Ser1447=) c.4206T>A (p.Ser1402=) c.4146T>A (p.Ser1382=) c.4080T>A (p.Ser1360=) c.4077T>A (p.Ser1359=) c.4068T>A (p.Ser1356=) c.4011T>A (p.Ser1337=) c.3894T>A (p.Ser1298=) | dbSNP ExAC gnomAD v2 |
3 | g.77644777T>C | CA434435274 | ROBO2 | c.4203T>C (p.Ser1401=) c.4194T>C (p.Ser1398=) c.4089T>C (p.Ser1363=) c.4281T>C (p.Ser1427=) c.*951T>C (n.*951T>C) c.4293T>C (p.Ser1431=) c.4467T>C (p.Ser1489=) c.*2441T>C (n.*2441T>C) c.4134T>C (p.Ser1378=) c.549T>C (p.Ser183=) c.4191T>C (p.Ser1397=) c.4008T>C (p.Ser1336=) n.5996T>C c.*2452T>C (n.*2452T>C) c.502T>C c.4056T>C (p.Ser1352=) c.466T>C c.3624T>C (p.Ser1208=) c.4020T>C (p.Ser1340=) c.2229T>C (p.Ser743=) c.4671T>C (p.Ser1557=) c.4545T>C (p.Ser1515=) c.4488T>C (p.Ser1496=) c.4215T>C (p.Ser1405=) c.4602T>C (p.Ser1534=) c.4536T>C (p.Ser1512=) c.4476T>C (p.Ser1492=) c.4362T>C (p.Ser1454=) c.4341T>C (p.Ser1447=) c.4206T>C (p.Ser1402=) c.4146T>C (p.Ser1382=) c.4080T>C (p.Ser1360=) c.4077T>C (p.Ser1359=) c.4068T>C (p.Ser1356=) c.4011T>C (p.Ser1337=) c.3894T>C (p.Ser1298=) | |
3 | g.77644777T>G | CA2497824 | ROBO2 | c.4203T>G (p.Ser1401=) c.4194T>G (p.Ser1398=) c.4089T>G (p.Ser1363=) c.4281T>G (p.Ser1427=) c.*951T>G (n.*951T>G) c.4293T>G (p.Ser1431=) c.4467T>G (p.Ser1489=) c.*2441T>G (n.*2441T>G) c.4134T>G (p.Ser1378=) c.549T>G (p.Ser183=) c.4191T>G (p.Ser1397=) c.4008T>G (p.Ser1336=) n.5996T>G c.*2452T>G (n.*2452T>G) c.502T>G c.4056T>G (p.Ser1352=) c.466T>G c.3624T>G (p.Ser1208=) c.4020T>G (p.Ser1340=) c.2229T>G (p.Ser743=) c.4671T>G (p.Ser1557=) c.4545T>G (p.Ser1515=) c.4488T>G (p.Ser1496=) c.4215T>G (p.Ser1405=) c.4602T>G (p.Ser1534=) c.4536T>G (p.Ser1512=) c.4476T>G (p.Ser1492=) c.4362T>G (p.Ser1454=) c.4341T>G (p.Ser1447=) c.4206T>G (p.Ser1402=) c.4146T>G (p.Ser1382=) c.4080T>G (p.Ser1360=) c.4077T>G (p.Ser1359=) c.4068T>G (p.Ser1356=) c.4011T>G (p.Ser1337=) c.3894T>G (p.Ser1298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644777T= | CA1376777942 | ROBO2 | c.4203T= (p.Ser1401=) c.4194T= (p.Ser1398=) c.4089T= (p.Ser1363=) c.4281T= (p.Ser1427=) c.*951T= (n.*951T=) c.4293T= (p.Ser1431=) c.4467T= (p.Ser1489=) c.*2441T= (n.*2441T=) c.4134T= (p.Ser1378=) c.549T= (p.Ser183=) c.4191T= (p.Ser1397=) c.4008T= (p.Ser1336=) n.5996T= c.*2452T= (n.*2452T=) c.502T= c.4056T= (p.Ser1352=) c.466T= c.3624T= (p.Ser1208=) c.4020T= (p.Ser1340=) c.2229T= (p.Ser743=) c.4671T= (p.Ser1557=) c.4545T= (p.Ser1515=) c.4488T= (p.Ser1496=) c.4215T= (p.Ser1405=) c.4602T= (p.Ser1534=) c.4536T= (p.Ser1512=) c.4476T= (p.Ser1492=) c.4362T= (p.Ser1454=) c.4341T= (p.Ser1447=) c.4206T= (p.Ser1402=) c.4146T= (p.Ser1382=) c.4080T= (p.Ser1360=) c.4077T= (p.Ser1359=) c.4068T= (p.Ser1356=) c.4011T= (p.Ser1337=) c.3894T= (p.Ser1298=) | |
3 | g.77644778T>A | CA353533457 | ROBO2 | c.4204T>A (p.Ser1402Thr) c.4195T>A (p.Ser1399Thr) c.4090T>A (p.Ser1364Thr) c.4282T>A (p.Ser1428Thr) c.*952T>A (n.*952T>A) c.4294T>A (p.Ser1432Thr) c.4468T>A (p.Ser1490Thr) c.*2442T>A (n.*2442T>A) c.4135T>A (p.Ser1379Thr) c.550T>A (p.Ser184Thr) c.4192T>A (p.Ser1398Thr) c.4009T>A (p.Ser1337Thr) n.5997T>A c.*2453T>A (n.*2453T>A) c.503T>A c.4057T>A (p.Ser1353Thr) c.467T>A c.3625T>A (p.Ser1209Thr) c.4021T>A (p.Ser1341Thr) c.2230T>A (p.Ser744Thr) c.4672T>A (p.Ser1558Thr) c.4546T>A (p.Ser1516Thr) c.4489T>A (p.Ser1497Thr) c.4216T>A (p.Ser1406Thr) c.4603T>A (p.Ser1535Thr) c.4537T>A (p.Ser1513Thr) c.4477T>A (p.Ser1493Thr) c.4363T>A (p.Ser1455Thr) c.4342T>A (p.Ser1448Thr) c.4207T>A (p.Ser1403Thr) c.4147T>A (p.Ser1383Thr) c.4081T>A (p.Ser1361Thr) c.4078T>A (p.Ser1360Thr) c.4069T>A (p.Ser1357Thr) c.4012T>A (p.Ser1338Thr) c.3895T>A (p.Ser1299Thr) | |
3 | g.77644778T>C | CA353533459 | ROBO2 | c.4204T>C (p.Ser1402Pro) c.4195T>C (p.Ser1399Pro) c.4090T>C (p.Ser1364Pro) c.4282T>C (p.Ser1428Pro) c.*952T>C (n.*952T>C) c.4294T>C (p.Ser1432Pro) c.4468T>C (p.Ser1490Pro) c.*2442T>C (n.*2442T>C) c.4135T>C (p.Ser1379Pro) c.550T>C (p.Ser184Pro) c.4192T>C (p.Ser1398Pro) c.4009T>C (p.Ser1337Pro) n.5997T>C c.*2453T>C (n.*2453T>C) c.503T>C c.4057T>C (p.Ser1353Pro) c.467T>C c.3625T>C (p.Ser1209Pro) c.4021T>C (p.Ser1341Pro) c.2230T>C (p.Ser744Pro) c.4672T>C (p.Ser1558Pro) c.4546T>C (p.Ser1516Pro) c.4489T>C (p.Ser1497Pro) c.4216T>C (p.Ser1406Pro) c.4603T>C (p.Ser1535Pro) c.4537T>C (p.Ser1513Pro) c.4477T>C (p.Ser1493Pro) c.4363T>C (p.Ser1455Pro) c.4342T>C (p.Ser1448Pro) c.4207T>C (p.Ser1403Pro) c.4147T>C (p.Ser1383Pro) c.4081T>C (p.Ser1361Pro) c.4078T>C (p.Ser1360Pro) c.4069T>C (p.Ser1357Pro) c.4012T>C (p.Ser1338Pro) c.3895T>C (p.Ser1299Pro) | |
3 | g.77644778T>G | CA353533461 | ROBO2 | c.4204T>G (p.Ser1402Ala) c.4195T>G (p.Ser1399Ala) c.4090T>G (p.Ser1364Ala) c.4282T>G (p.Ser1428Ala) c.*952T>G (n.*952T>G) c.4294T>G (p.Ser1432Ala) c.4468T>G (p.Ser1490Ala) c.*2442T>G (n.*2442T>G) c.4135T>G (p.Ser1379Ala) c.550T>G (p.Ser184Ala) c.4192T>G (p.Ser1398Ala) c.4009T>G (p.Ser1337Ala) n.5997T>G c.*2453T>G (n.*2453T>G) c.503T>G c.4057T>G (p.Ser1353Ala) c.467T>G c.3625T>G (p.Ser1209Ala) c.4021T>G (p.Ser1341Ala) c.2230T>G (p.Ser744Ala) c.4672T>G (p.Ser1558Ala) c.4546T>G (p.Ser1516Ala) c.4489T>G (p.Ser1497Ala) c.4216T>G (p.Ser1406Ala) c.4603T>G (p.Ser1535Ala) c.4537T>G (p.Ser1513Ala) c.4477T>G (p.Ser1493Ala) c.4363T>G (p.Ser1455Ala) c.4342T>G (p.Ser1448Ala) c.4207T>G (p.Ser1403Ala) c.4147T>G (p.Ser1383Ala) c.4081T>G (p.Ser1361Ala) c.4078T>G (p.Ser1360Ala) c.4069T>G (p.Ser1357Ala) c.4012T>G (p.Ser1338Ala) c.3895T>G (p.Ser1299Ala) | |
3 | g.77644779C>A | CA353533466 | ROBO2 | c.4205C>A (p.Ser1402Tyr) c.4196C>A (p.Ser1399Tyr) c.4091C>A (p.Ser1364Tyr) c.4283C>A (p.Ser1428Tyr) c.*953C>A (n.*953C>A) c.4295C>A (p.Ser1432Tyr) c.4469C>A (p.Ser1490Tyr) c.*2443C>A (n.*2443C>A) c.4136C>A (p.Ser1379Tyr) c.551C>A (p.Ser184Tyr) c.4193C>A (p.Ser1398Tyr) c.4010C>A (p.Ser1337Tyr) n.5998C>A c.*2454C>A (n.*2454C>A) c.504C>A c.4058C>A (p.Ser1353Tyr) c.468C>A c.3626C>A (p.Ser1209Tyr) c.4022C>A (p.Ser1341Tyr) c.2231C>A (p.Ser744Tyr) c.4673C>A (p.Ser1558Tyr) c.4547C>A (p.Ser1516Tyr) c.4490C>A (p.Ser1497Tyr) c.4217C>A (p.Ser1406Tyr) c.4604C>A (p.Ser1535Tyr) c.4538C>A (p.Ser1513Tyr) c.4478C>A (p.Ser1493Tyr) c.4364C>A (p.Ser1455Tyr) c.4343C>A (p.Ser1448Tyr) c.4208C>A (p.Ser1403Tyr) c.4148C>A (p.Ser1383Tyr) c.4082C>A (p.Ser1361Tyr) c.4079C>A (p.Ser1360Tyr) c.4070C>A (p.Ser1357Tyr) c.4013C>A (p.Ser1338Tyr) c.3896C>A (p.Ser1299Tyr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77644779C= | CA1376777943 | ROBO2 | c.4205C= (p.Ser1402=) c.4196C= (p.Ser1399=) c.4091C= (p.Ser1364=) c.4283C= (p.Ser1428=) c.*953C= (n.*953C=) c.4295C= (p.Ser1432=) c.4469C= (p.Ser1490=) c.*2443C= (n.*2443C=) c.4136C= (p.Ser1379=) c.551C= (p.Ser184=) c.4193C= (p.Ser1398=) c.4010C= (p.Ser1337=) n.5998C= c.*2454C= (n.*2454C=) c.504C= c.4058C= (p.Ser1353=) c.468C= c.3626C= (p.Ser1209=) c.4022C= (p.Ser1341=) c.2231C= (p.Ser744=) c.4673C= (p.Ser1558=) c.4547C= (p.Ser1516=) c.4490C= (p.Ser1497=) c.4217C= (p.Ser1406=) c.4604C= (p.Ser1535=) c.4538C= (p.Ser1513=) c.4478C= (p.Ser1493=) c.4364C= (p.Ser1455=) c.4343C= (p.Ser1448=) c.4208C= (p.Ser1403=) c.4148C= (p.Ser1383=) c.4082C= (p.Ser1361=) c.4079C= (p.Ser1360=) c.4070C= (p.Ser1357=) c.4013C= (p.Ser1338=) c.3896C= (p.Ser1299=) | |
3 | g.77644779C>G | CA77532939 | ROBO2 | c.4205C>G (p.Ser1402Cys) c.4196C>G (p.Ser1399Cys) c.4091C>G (p.Ser1364Cys) c.4283C>G (p.Ser1428Cys) c.*953C>G (n.*953C>G) c.4295C>G (p.Ser1432Cys) c.4469C>G (p.Ser1490Cys) c.*2443C>G (n.*2443C>G) c.4136C>G (p.Ser1379Cys) c.551C>G (p.Ser184Cys) c.4193C>G (p.Ser1398Cys) c.4010C>G (p.Ser1337Cys) n.5998C>G c.*2454C>G (n.*2454C>G) c.504C>G c.4058C>G (p.Ser1353Cys) c.468C>G c.3626C>G (p.Ser1209Cys) c.4022C>G (p.Ser1341Cys) c.2231C>G (p.Ser744Cys) c.4673C>G (p.Ser1558Cys) c.4547C>G (p.Ser1516Cys) c.4490C>G (p.Ser1497Cys) c.4217C>G (p.Ser1406Cys) c.4604C>G (p.Ser1535Cys) c.4538C>G (p.Ser1513Cys) c.4478C>G (p.Ser1493Cys) c.4364C>G (p.Ser1455Cys) c.4343C>G (p.Ser1448Cys) c.4208C>G (p.Ser1403Cys) c.4148C>G (p.Ser1383Cys) c.4082C>G (p.Ser1361Cys) c.4079C>G (p.Ser1360Cys) c.4070C>G (p.Ser1357Cys) c.4013C>G (p.Ser1338Cys) c.3896C>G (p.Ser1299Cys) | dbSNP gnomAD v4 |
3 | g.77644779C>T | CA353533468 | ROBO2 | c.4205C>T (p.Ser1402Phe) c.4196C>T (p.Ser1399Phe) c.4091C>T (p.Ser1364Phe) c.4283C>T (p.Ser1428Phe) c.*953C>T (n.*953C>T) c.4295C>T (p.Ser1432Phe) c.4469C>T (p.Ser1490Phe) c.*2443C>T (n.*2443C>T) c.4136C>T (p.Ser1379Phe) c.551C>T (p.Ser184Phe) c.4193C>T (p.Ser1398Phe) c.4010C>T (p.Ser1337Phe) n.5998C>T c.*2454C>T (n.*2454C>T) c.504C>T c.4058C>T (p.Ser1353Phe) c.468C>T c.3626C>T (p.Ser1209Phe) c.4022C>T (p.Ser1341Phe) c.2231C>T (p.Ser744Phe) c.4673C>T (p.Ser1558Phe) c.4547C>T (p.Ser1516Phe) c.4490C>T (p.Ser1497Phe) c.4217C>T (p.Ser1406Phe) c.4604C>T (p.Ser1535Phe) c.4538C>T (p.Ser1513Phe) c.4478C>T (p.Ser1493Phe) c.4364C>T (p.Ser1455Phe) c.4343C>T (p.Ser1448Phe) c.4208C>T (p.Ser1403Phe) c.4148C>T (p.Ser1383Phe) c.4082C>T (p.Ser1361Phe) c.4079C>T (p.Ser1360Phe) c.4070C>T (p.Ser1357Phe) c.4013C>T (p.Ser1338Phe) c.3896C>T (p.Ser1299Phe) | COSMIC COSMIC |
3 | g.77644780T>A | CA2497826 | ROBO2 | c.4206T>A (p.Ser1402=) c.4197T>A (p.Ser1399=) c.4092T>A (p.Ser1364=) c.4284T>A (p.Ser1428=) c.*954T>A (n.*954T>A) c.4296T>A (p.Ser1432=) c.4470T>A (p.Ser1490=) c.*2444T>A (n.*2444T>A) c.4137T>A (p.Ser1379=) c.552T>A (p.Ser184=) c.4194T>A (p.Ser1398=) c.4011T>A (p.Ser1337=) n.5999T>A c.*2455T>A (n.*2455T>A) c.505T>A c.4059T>A (p.Ser1353=) c.469T>A c.3627T>A (p.Ser1209=) c.4023T>A (p.Ser1341=) c.2232T>A (p.Ser744=) c.4674T>A (p.Ser1558=) c.4548T>A (p.Ser1516=) c.4491T>A (p.Ser1497=) c.4218T>A (p.Ser1406=) c.4605T>A (p.Ser1535=) c.4539T>A (p.Ser1513=) c.4479T>A (p.Ser1493=) c.4365T>A (p.Ser1455=) c.4344T>A (p.Ser1448=) c.4209T>A (p.Ser1403=) c.4149T>A (p.Ser1383=) c.4083T>A (p.Ser1361=) c.4080T>A (p.Ser1360=) c.4071T>A (p.Ser1357=) c.4014T>A (p.Ser1338=) c.3897T>A (p.Ser1299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77644780T>C | CA434435275 | ROBO2 | c.4206T>C (p.Ser1402=) c.4197T>C (p.Ser1399=) c.4092T>C (p.Ser1364=) c.4284T>C (p.Ser1428=) c.*954T>C (n.*954T>C) c.4296T>C (p.Ser1432=) c.4470T>C (p.Ser1490=) c.*2444T>C (n.*2444T>C) c.4137T>C (p.Ser1379=) c.552T>C (p.Ser184=) c.4194T>C (p.Ser1398=) c.4011T>C (p.Ser1337=) n.5999T>C c.*2455T>C (n.*2455T>C) c.505T>C c.4059T>C (p.Ser1353=) c.469T>C c.3627T>C (p.Ser1209=) c.4023T>C (p.Ser1341=) c.2232T>C (p.Ser744=) c.4674T>C (p.Ser1558=) c.4548T>C (p.Ser1516=) c.4491T>C (p.Ser1497=) c.4218T>C (p.Ser1406=) c.4605T>C (p.Ser1535=) c.4539T>C (p.Ser1513=) c.4479T>C (p.Ser1493=) c.4365T>C (p.Ser1455=) c.4344T>C (p.Ser1448=) c.4209T>C (p.Ser1403=) c.4149T>C (p.Ser1383=) c.4083T>C (p.Ser1361=) c.4080T>C (p.Ser1360=) c.4071T>C (p.Ser1357=) c.4014T>C (p.Ser1338=) c.3897T>C (p.Ser1299=) | |
3 | g.77644780T>G | CA434435277 | ROBO2 | c.4206T>G (p.Ser1402=) c.4197T>G (p.Ser1399=) c.4092T>G (p.Ser1364=) c.4284T>G (p.Ser1428=) c.*954T>G (n.*954T>G) c.4296T>G (p.Ser1432=) c.4470T>G (p.Ser1490=) c.*2444T>G (n.*2444T>G) c.4137T>G (p.Ser1379=) c.552T>G (p.Ser184=) c.4194T>G (p.Ser1398=) c.4011T>G (p.Ser1337=) n.5999T>G c.*2455T>G (n.*2455T>G) c.505T>G c.4059T>G (p.Ser1353=) c.469T>G c.3627T>G (p.Ser1209=) c.4023T>G (p.Ser1341=) c.2232T>G (p.Ser744=) c.4674T>G (p.Ser1558=) c.4548T>G (p.Ser1516=) c.4491T>G (p.Ser1497=) c.4218T>G (p.Ser1406=) c.4605T>G (p.Ser1535=) c.4539T>G (p.Ser1513=) c.4479T>G (p.Ser1493=) c.4365T>G (p.Ser1455=) c.4344T>G (p.Ser1448=) c.4209T>G (p.Ser1403=) c.4149T>G (p.Ser1383=) c.4083T>G (p.Ser1361=) c.4080T>G (p.Ser1360=) c.4071T>G (p.Ser1357=) c.4014T>G (p.Ser1338=) c.3897T>G (p.Ser1299=) | |
3 | g.77644780T= | CA1376777944 | ROBO2 | c.4206T= (p.Ser1402=) c.4197T= (p.Ser1399=) c.4092T= (p.Ser1364=) c.4284T= (p.Ser1428=) c.*954T= (n.*954T=) c.4296T= (p.Ser1432=) c.4470T= (p.Ser1490=) c.*2444T= (n.*2444T=) c.4137T= (p.Ser1379=) c.552T= (p.Ser184=) c.4194T= (p.Ser1398=) c.4011T= (p.Ser1337=) n.5999T= c.*2455T= (n.*2455T=) c.505T= c.4059T= (p.Ser1353=) c.469T= c.3627T= (p.Ser1209=) c.4023T= (p.Ser1341=) c.2232T= (p.Ser744=) c.4674T= (p.Ser1558=) c.4548T= (p.Ser1516=) c.4491T= (p.Ser1497=) c.4218T= (p.Ser1406=) c.4605T= (p.Ser1535=) c.4539T= (p.Ser1513=) c.4479T= (p.Ser1493=) c.4365T= (p.Ser1455=) c.4344T= (p.Ser1448=) c.4209T= (p.Ser1403=) c.4149T= (p.Ser1383=) c.4083T= (p.Ser1361=) c.4080T= (p.Ser1360=) c.4071T= (p.Ser1357=) c.4014T= (p.Ser1338=) c.3897T= (p.Ser1299=) | |
3 | g.77644781A= | CA1376777945 | ROBO2 | c.4207A= (p.Lys1403=) c.4198A= (p.Lys1400=) c.4093A= (p.Lys1365=) c.4285A= (p.Lys1429=) c.*955A= (n.*955A=) c.4297A= (p.Lys1433=) c.4471A= (p.Lys1491=) c.*2445A= (n.*2445A=) c.4138A= (p.Lys1380=) c.553A= (p.Lys185=) c.4195A= (p.Lys1399=) c.4012A= (p.Lys1338=) n.6000A= c.*2456A= (n.*2456A=) c.506A= c.4060A= (p.Lys1354=) c.470A= c.3628A= (p.Lys1210=) c.4024A= (p.Lys1342=) c.2233A= (p.Lys745=) c.4675A= (p.Lys1559=) c.4549A= (p.Lys1517=) c.4492A= (p.Lys1498=) c.4219A= (p.Lys1407=) c.4606A= (p.Lys1536=) c.4540A= (p.Lys1514=) c.4480A= (p.Lys1494=) c.4366A= (p.Lys1456=) c.4345A= (p.Lys1449=) c.4210A= (p.Lys1404=) c.4150A= (p.Lys1384=) c.4084A= (p.Lys1362=) c.4081A= (p.Lys1361=) c.4072A= (p.Lys1358=) c.4015A= (p.Lys1339=) c.3898A= (p.Lys1300=) | |
3 | g.77644781A>C | CA353533472 | ROBO2 | c.4207A>C (p.Lys1403Gln) c.4198A>C (p.Lys1400Gln) c.4093A>C (p.Lys1365Gln) c.4285A>C (p.Lys1429Gln) c.*955A>C (n.*955A>C) c.4297A>C (p.Lys1433Gln) c.4471A>C (p.Lys1491Gln) c.*2445A>C (n.*2445A>C) c.4138A>C (p.Lys1380Gln) c.553A>C (p.Lys185Gln) c.4195A>C (p.Lys1399Gln) c.4012A>C (p.Lys1338Gln) n.6000A>C c.*2456A>C (n.*2456A>C) c.506A>C c.4060A>C (p.Lys1354Gln) c.470A>C c.3628A>C (p.Lys1210Gln) c.4024A>C (p.Lys1342Gln) c.2233A>C (p.Lys745Gln) c.4675A>C (p.Lys1559Gln) c.4549A>C (p.Lys1517Gln) c.4492A>C (p.Lys1498Gln) c.4219A>C (p.Lys1407Gln) c.4606A>C (p.Lys1536Gln) c.4540A>C (p.Lys1514Gln) c.4480A>C (p.Lys1494Gln) c.4366A>C (p.Lys1456Gln) c.4345A>C (p.Lys1449Gln) c.4210A>C (p.Lys1404Gln) c.4150A>C (p.Lys1384Gln) c.4084A>C (p.Lys1362Gln) c.4081A>C (p.Lys1361Gln) c.4072A>C (p.Lys1358Gln) c.4015A>C (p.Lys1339Gln) c.3898A>C (p.Lys1300Gln) | |
3 | g.77644781A>G | CA353533473 | ROBO2 | c.4207A>G (p.Lys1403Glu) c.4198A>G (p.Lys1400Glu) c.4093A>G (p.Lys1365Glu) c.4285A>G (p.Lys1429Glu) c.*955A>G (n.*955A>G) c.4297A>G (p.Lys1433Glu) c.4471A>G (p.Lys1491Glu) c.*2445A>G (n.*2445A>G) c.4138A>G (p.Lys1380Glu) c.553A>G (p.Lys185Glu) c.4195A>G (p.Lys1399Glu) c.4012A>G (p.Lys1338Glu) n.6000A>G c.*2456A>G (n.*2456A>G) c.506A>G c.4060A>G (p.Lys1354Glu) c.470A>G c.3628A>G (p.Lys1210Glu) c.4024A>G (p.Lys1342Glu) c.2233A>G (p.Lys745Glu) c.4675A>G (p.Lys1559Glu) c.4549A>G (p.Lys1517Glu) c.4492A>G (p.Lys1498Glu) c.4219A>G (p.Lys1407Glu) c.4606A>G (p.Lys1536Glu) c.4540A>G (p.Lys1514Glu) c.4480A>G (p.Lys1494Glu) c.4366A>G (p.Lys1456Glu) c.4345A>G (p.Lys1449Glu) c.4210A>G (p.Lys1404Glu) c.4150A>G (p.Lys1384Glu) c.4084A>G (p.Lys1362Glu) c.4081A>G (p.Lys1361Glu) c.4072A>G (p.Lys1358Glu) c.4015A>G (p.Lys1339Glu) c.3898A>G (p.Lys1300Glu) | dbSNP |
3 | g.77644781A>T | CA353533475 | ROBO2 | c.4207A>T (p.Lys1403Ter) c.4198A>T (p.Lys1400Ter) c.4093A>T (p.Lys1365Ter) c.4285A>T (p.Lys1429Ter) c.*955A>T (n.*955A>T) c.4297A>T (p.Lys1433Ter) c.4471A>T (p.Lys1491Ter) c.*2445A>T (n.*2445A>T) c.4138A>T (p.Lys1380Ter) c.553A>T (p.Lys185Ter) c.4195A>T (p.Lys1399Ter) c.4012A>T (p.Lys1338Ter) n.6000A>T c.*2456A>T (n.*2456A>T) c.506A>T c.4060A>T (p.Lys1354Ter) c.470A>T c.3628A>T (p.Lys1210Ter) c.4024A>T (p.Lys1342Ter) c.2233A>T (p.Lys745Ter) c.4675A>T (p.Lys1559Ter) c.4549A>T (p.Lys1517Ter) c.4492A>T (p.Lys1498Ter) c.4219A>T (p.Lys1407Ter) c.4606A>T (p.Lys1536Ter) c.4540A>T (p.Lys1514Ter) c.4480A>T (p.Lys1494Ter) c.4366A>T (p.Lys1456Ter) c.4345A>T (p.Lys1449Ter) c.4210A>T (p.Lys1404Ter) c.4150A>T (p.Lys1384Ter) c.4084A>T (p.Lys1362Ter) c.4081A>T (p.Lys1361Ter) c.4072A>T (p.Lys1358Ter) c.4015A>T (p.Lys1339Ter) c.3898A>T (p.Lys1300Ter) | |
3 | g.77644782del | CA434435278 | ROBO2 | c.4208del (p.Lys1403ArgfsTer12) c.4199del (p.Lys1400ArgfsTer12) c.4094del (p.Lys1365ArgfsTer12) c.4286del (p.Lys1429ArgfsTer12) c.*956del (n.*956del) c.4298del (p.Lys1433ArgfsTer12) c.4472del (p.Lys1491ArgfsTer12) c.*2446del (n.*2446del) c.4139del (p.Lys1380ArgfsTer12) c.554del (p.Lys185ArgfsTer12) c.4196del (p.Lys1399ArgfsTer12) c.4013del (p.Lys1338ArgfsTer12) n.6001del c.*2457del (n.*2457del) c.507del c.4061del (p.Lys1354ArgfsTer12) c.471del c.3629del (p.Lys1210ArgfsTer12) c.4025del (p.Lys1342ArgfsTer12) c.2234del (p.Lys745ArgfsTer12) c.4676del (p.Lys1559ArgfsTer12) c.4550del (p.Lys1517ArgfsTer12) c.4493del (p.Lys1498ArgfsTer12) c.4220del (p.Lys1407ArgfsTer12) c.4607del (p.Lys1536ArgfsTer12) c.4541del (p.Lys1514ArgfsTer12) c.4481del (p.Lys1494ArgfsTer12) c.4367del (p.Lys1456ArgfsTer12) c.4346del (p.Lys1449ArgfsTer12) c.4211del (p.Lys1404ArgfsTer12) c.4151del (p.Lys1384ArgfsTer12) c.4085del (p.Lys1362ArgfsTer12) c.4082del (p.Lys1361ArgfsTer12) c.4073del (p.Lys1358ArgfsTer12) c.4016del (p.Lys1339ArgfsTer12) c.3899del (p.Lys1300ArgfsTer12) | COSMIC COSMIC COSMIC COSMIC |
3 | g.77644782A= | CA1376777946 | ROBO2 | c.4208A= (p.Lys1403=) c.4199A= (p.Lys1400=) c.4094A= (p.Lys1365=) c.4286A= (p.Lys1429=) c.*956A= (n.*956A=) c.4298A= (p.Lys1433=) c.4472A= (p.Lys1491=) c.*2446A= (n.*2446A=) c.4139A= (p.Lys1380=) c.554A= (p.Lys185=) c.4196A= (p.Lys1399=) c.4013A= (p.Lys1338=) n.6001A= c.*2457A= (n.*2457A=) c.507A= c.4061A= (p.Lys1354=) c.471A= c.3629A= (p.Lys1210=) c.4025A= (p.Lys1342=) c.2234A= (p.Lys745=) c.4676A= (p.Lys1559=) c.4550A= (p.Lys1517=) c.4493A= (p.Lys1498=) c.4220A= (p.Lys1407=) c.4607A= (p.Lys1536=) c.4541A= (p.Lys1514=) c.4481A= (p.Lys1494=) c.4367A= (p.Lys1456=) c.4346A= (p.Lys1449=) c.4211A= (p.Lys1404=) c.4151A= (p.Lys1384=) c.4085A= (p.Lys1362=) c.4082A= (p.Lys1361=) c.4073A= (p.Lys1358=) c.4016A= (p.Lys1339=) c.3899A= (p.Lys1300=) | |
3 | g.77644782A>C | CA353533478 | ROBO2 | c.4208A>C (p.Lys1403Thr) c.4199A>C (p.Lys1400Thr) c.4094A>C (p.Lys1365Thr) c.4286A>C (p.Lys1429Thr) c.*956A>C (n.*956A>C) c.4298A>C (p.Lys1433Thr) c.4472A>C (p.Lys1491Thr) c.*2446A>C (n.*2446A>C) c.4139A>C (p.Lys1380Thr) c.554A>C (p.Lys185Thr) c.4196A>C (p.Lys1399Thr) c.4013A>C (p.Lys1338Thr) n.6001A>C c.*2457A>C (n.*2457A>C) c.507A>C c.4061A>C (p.Lys1354Thr) c.471A>C c.3629A>C (p.Lys1210Thr) c.4025A>C (p.Lys1342Thr) c.2234A>C (p.Lys745Thr) c.4676A>C (p.Lys1559Thr) c.4550A>C (p.Lys1517Thr) c.4493A>C (p.Lys1498Thr) c.4220A>C (p.Lys1407Thr) c.4607A>C (p.Lys1536Thr) c.4541A>C (p.Lys1514Thr) c.4481A>C (p.Lys1494Thr) c.4367A>C (p.Lys1456Thr) c.4346A>C (p.Lys1449Thr) c.4211A>C (p.Lys1404Thr) c.4151A>C (p.Lys1384Thr) c.4085A>C (p.Lys1362Thr) c.4082A>C (p.Lys1361Thr) c.4073A>C (p.Lys1358Thr) c.4016A>C (p.Lys1339Thr) c.3899A>C (p.Lys1300Thr) | |
3 | g.77644782A>G | CA353533479 | ROBO2 | c.4208A>G (p.Lys1403Arg) c.4199A>G (p.Lys1400Arg) c.4094A>G (p.Lys1365Arg) c.4286A>G (p.Lys1429Arg) c.*956A>G (n.*956A>G) c.4298A>G (p.Lys1433Arg) c.4472A>G (p.Lys1491Arg) c.*2446A>G (n.*2446A>G) c.4139A>G (p.Lys1380Arg) c.554A>G (p.Lys185Arg) c.4196A>G (p.Lys1399Arg) c.4013A>G (p.Lys1338Arg) n.6001A>G c.*2457A>G (n.*2457A>G) c.507A>G c.4061A>G (p.Lys1354Arg) c.471A>G c.3629A>G (p.Lys1210Arg) c.4025A>G (p.Lys1342Arg) c.2234A>G (p.Lys745Arg) c.4676A>G (p.Lys1559Arg) c.4550A>G (p.Lys1517Arg) c.4493A>G (p.Lys1498Arg) c.4220A>G (p.Lys1407Arg) c.4607A>G (p.Lys1536Arg) c.4541A>G (p.Lys1514Arg) c.4481A>G (p.Lys1494Arg) c.4367A>G (p.Lys1456Arg) c.4346A>G (p.Lys1449Arg) c.4211A>G (p.Lys1404Arg) c.4151A>G (p.Lys1384Arg) c.4085A>G (p.Lys1362Arg) c.4082A>G (p.Lys1361Arg) c.4073A>G (p.Lys1358Arg) c.4016A>G (p.Lys1339Arg) c.3899A>G (p.Lys1300Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644782A>T | CA353533481 | ROBO2 | c.4208A>T (p.Lys1403Met) c.4199A>T (p.Lys1400Met) c.4094A>T (p.Lys1365Met) c.4286A>T (p.Lys1429Met) c.*956A>T (n.*956A>T) c.4298A>T (p.Lys1433Met) c.4472A>T (p.Lys1491Met) c.*2446A>T (n.*2446A>T) c.4139A>T (p.Lys1380Met) c.554A>T (p.Lys185Met) c.4196A>T (p.Lys1399Met) c.4013A>T (p.Lys1338Met) n.6001A>T c.*2457A>T (n.*2457A>T) c.507A>T c.4061A>T (p.Lys1354Met) c.471A>T c.3629A>T (p.Lys1210Met) c.4025A>T (p.Lys1342Met) c.2234A>T (p.Lys745Met) c.4676A>T (p.Lys1559Met) c.4550A>T (p.Lys1517Met) c.4493A>T (p.Lys1498Met) c.4220A>T (p.Lys1407Met) c.4607A>T (p.Lys1536Met) c.4541A>T (p.Lys1514Met) c.4481A>T (p.Lys1494Met) c.4367A>T (p.Lys1456Met) c.4346A>T (p.Lys1449Met) c.4211A>T (p.Lys1404Met) c.4151A>T (p.Lys1384Met) c.4085A>T (p.Lys1362Met) c.4082A>T (p.Lys1361Met) c.4073A>T (p.Lys1358Met) c.4016A>T (p.Lys1339Met) c.3899A>T (p.Lys1300Met) | |
3 | g.77644783G>A | CA434435279 | ROBO2 | c.4209G>A (p.Lys1403=) c.4200G>A (p.Lys1400=) c.4095G>A (p.Lys1365=) c.4287G>A (p.Lys1429=) c.*957G>A (n.*957G>A) c.4299G>A (p.Lys1433=) c.4473G>A (p.Lys1491=) c.*2447G>A (n.*2447G>A) c.4140G>A (p.Lys1380=) c.555G>A (p.Lys185=) c.4197G>A (p.Lys1399=) c.4014G>A (p.Lys1338=) n.6002G>A c.*2458G>A (n.*2458G>A) c.508G>A c.4062G>A (p.Lys1354=) c.472G>A c.3630G>A (p.Lys1210=) c.4026G>A (p.Lys1342=) c.2235G>A (p.Lys745=) c.4677G>A (p.Lys1559=) c.4551G>A (p.Lys1517=) c.4494G>A (p.Lys1498=) c.4221G>A (p.Lys1407=) c.4608G>A (p.Lys1536=) c.4542G>A (p.Lys1514=) c.4482G>A (p.Lys1494=) c.4368G>A (p.Lys1456=) c.4347G>A (p.Lys1449=) c.4212G>A (p.Lys1404=) c.4152G>A (p.Lys1384=) c.4086G>A (p.Lys1362=) c.4083G>A (p.Lys1361=) c.4074G>A (p.Lys1358=) c.4017G>A (p.Lys1339=) c.3900G>A (p.Lys1300=) | |
3 | g.77644783G>C | CA353533485 | ROBO2 | c.4209G>C (p.Lys1403Asn) c.4200G>C (p.Lys1400Asn) c.4095G>C (p.Lys1365Asn) c.4287G>C (p.Lys1429Asn) c.*957G>C (n.*957G>C) c.4299G>C (p.Lys1433Asn) c.4473G>C (p.Lys1491Asn) c.*2447G>C (n.*2447G>C) c.4140G>C (p.Lys1380Asn) c.555G>C (p.Lys185Asn) c.4197G>C (p.Lys1399Asn) c.4014G>C (p.Lys1338Asn) n.6002G>C c.*2458G>C (n.*2458G>C) c.508G>C c.4062G>C (p.Lys1354Asn) c.472G>C c.3630G>C (p.Lys1210Asn) c.4026G>C (p.Lys1342Asn) c.2235G>C (p.Lys745Asn) c.4677G>C (p.Lys1559Asn) c.4551G>C (p.Lys1517Asn) c.4494G>C (p.Lys1498Asn) c.4221G>C (p.Lys1407Asn) c.4608G>C (p.Lys1536Asn) c.4542G>C (p.Lys1514Asn) c.4482G>C (p.Lys1494Asn) c.4368G>C (p.Lys1456Asn) c.4347G>C (p.Lys1449Asn) c.4212G>C (p.Lys1404Asn) c.4152G>C (p.Lys1384Asn) c.4086G>C (p.Lys1362Asn) c.4083G>C (p.Lys1361Asn) c.4074G>C (p.Lys1358Asn) c.4017G>C (p.Lys1339Asn) c.3900G>C (p.Lys1300Asn) | dbSNP |
3 | g.77644783G= | CA1376777947 | ROBO2 | c.4209G= (p.Lys1403=) c.4200G= (p.Lys1400=) c.4095G= (p.Lys1365=) c.4287G= (p.Lys1429=) c.*957G= (n.*957G=) c.4299G= (p.Lys1433=) c.4473G= (p.Lys1491=) c.*2447G= (n.*2447G=) c.4140G= (p.Lys1380=) c.555G= (p.Lys185=) c.4197G= (p.Lys1399=) c.4014G= (p.Lys1338=) n.6002G= c.*2458G= (n.*2458G=) c.508G= c.4062G= (p.Lys1354=) c.472G= c.3630G= (p.Lys1210=) c.4026G= (p.Lys1342=) c.2235G= (p.Lys745=) c.4677G= (p.Lys1559=) c.4551G= (p.Lys1517=) c.4494G= (p.Lys1498=) c.4221G= (p.Lys1407=) c.4608G= (p.Lys1536=) c.4542G= (p.Lys1514=) c.4482G= (p.Lys1494=) c.4368G= (p.Lys1456=) c.4347G= (p.Lys1449=) c.4212G= (p.Lys1404=) c.4152G= (p.Lys1384=) c.4086G= (p.Lys1362=) c.4083G= (p.Lys1361=) c.4074G= (p.Lys1358=) c.4017G= (p.Lys1339=) c.3900G= (p.Lys1300=) | |
3 | g.77644783G>T | CA353533483 | ROBO2 | c.4209G>T (p.Lys1403Asn) c.4200G>T (p.Lys1400Asn) c.4095G>T (p.Lys1365Asn) c.4287G>T (p.Lys1429Asn) c.*957G>T (n.*957G>T) c.4299G>T (p.Lys1433Asn) c.4473G>T (p.Lys1491Asn) c.*2447G>T (n.*2447G>T) c.4140G>T (p.Lys1380Asn) c.555G>T (p.Lys185Asn) c.4197G>T (p.Lys1399Asn) c.4014G>T (p.Lys1338Asn) n.6002G>T c.*2458G>T (n.*2458G>T) c.508G>T c.4062G>T (p.Lys1354Asn) c.472G>T c.3630G>T (p.Lys1210Asn) c.4026G>T (p.Lys1342Asn) c.2235G>T (p.Lys745Asn) c.4677G>T (p.Lys1559Asn) c.4551G>T (p.Lys1517Asn) c.4494G>T (p.Lys1498Asn) c.4221G>T (p.Lys1407Asn) c.4608G>T (p.Lys1536Asn) c.4542G>T (p.Lys1514Asn) c.4482G>T (p.Lys1494Asn) c.4368G>T (p.Lys1456Asn) c.4347G>T (p.Lys1449Asn) c.4212G>T (p.Lys1404Asn) c.4152G>T (p.Lys1384Asn) c.4086G>T (p.Lys1362Asn) c.4083G>T (p.Lys1361Asn) c.4074G>T (p.Lys1358Asn) c.4017G>T (p.Lys1339Asn) c.3900G>T (p.Lys1300Asn) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644784G>A | CA353533487 | ROBO2 | c.4210G>A (p.Gly1404Arg) c.4201G>A (p.Gly1401Arg) c.4096G>A (p.Gly1366Arg) c.4288G>A (p.Gly1430Arg) c.*958G>A (n.*958G>A) c.4300G>A (p.Gly1434Arg) c.4474G>A (p.Gly1492Arg) c.*2448G>A (n.*2448G>A) c.4141G>A (p.Gly1381Arg) c.556G>A (p.Gly186Arg) c.4198G>A (p.Gly1400Arg) c.4015G>A (p.Gly1339Arg) n.6003G>A c.*2459G>A (n.*2459G>A) c.509G>A c.4063G>A (p.Gly1355Arg) c.473G>A c.3631G>A (p.Gly1211Arg) c.4027G>A (p.Gly1343Arg) c.2236G>A (p.Gly746Arg) c.4678G>A (p.Gly1560Arg) c.4552G>A (p.Gly1518Arg) c.4495G>A (p.Gly1499Arg) c.4222G>A (p.Gly1408Arg) c.4609G>A (p.Gly1537Arg) c.4543G>A (p.Gly1515Arg) c.4483G>A (p.Gly1495Arg) c.4369G>A (p.Gly1457Arg) c.4348G>A (p.Gly1450Arg) c.4213G>A (p.Gly1405Arg) c.4153G>A (p.Gly1385Arg) c.4087G>A (p.Gly1363Arg) c.4084G>A (p.Gly1362Arg) c.4075G>A (p.Gly1359Arg) c.4018G>A (p.Gly1340Arg) c.3901G>A (p.Gly1301Arg) | |
3 | g.77644784G>C | CA353533489 | ROBO2 | c.4210G>C (p.Gly1404Arg) c.4201G>C (p.Gly1401Arg) c.4096G>C (p.Gly1366Arg) c.4288G>C (p.Gly1430Arg) c.*958G>C (n.*958G>C) c.4300G>C (p.Gly1434Arg) c.4474G>C (p.Gly1492Arg) c.*2448G>C (n.*2448G>C) c.4141G>C (p.Gly1381Arg) c.556G>C (p.Gly186Arg) c.4198G>C (p.Gly1400Arg) c.4015G>C (p.Gly1339Arg) n.6003G>C c.*2459G>C (n.*2459G>C) c.509G>C c.4063G>C (p.Gly1355Arg) c.473G>C c.3631G>C (p.Gly1211Arg) c.4027G>C (p.Gly1343Arg) c.2236G>C (p.Gly746Arg) c.4678G>C (p.Gly1560Arg) c.4552G>C (p.Gly1518Arg) c.4495G>C (p.Gly1499Arg) c.4222G>C (p.Gly1408Arg) c.4609G>C (p.Gly1537Arg) c.4543G>C (p.Gly1515Arg) c.4483G>C (p.Gly1495Arg) c.4369G>C (p.Gly1457Arg) c.4348G>C (p.Gly1450Arg) c.4213G>C (p.Gly1405Arg) c.4153G>C (p.Gly1385Arg) c.4087G>C (p.Gly1363Arg) c.4084G>C (p.Gly1362Arg) c.4075G>C (p.Gly1359Arg) c.4018G>C (p.Gly1340Arg) c.3901G>C (p.Gly1301Arg) | |
3 | g.77644784G>T | CA353533491 | ROBO2 | c.4210G>T (p.Gly1404Ter) c.4201G>T (p.Gly1401Ter) c.4096G>T (p.Gly1366Ter) c.4288G>T (p.Gly1430Ter) c.*958G>T (n.*958G>T) c.4300G>T (p.Gly1434Ter) c.4474G>T (p.Gly1492Ter) c.*2448G>T (n.*2448G>T) c.4141G>T (p.Gly1381Ter) c.556G>T (p.Gly186Ter) c.4198G>T (p.Gly1400Ter) c.4015G>T (p.Gly1339Ter) n.6003G>T c.*2459G>T (n.*2459G>T) c.509G>T c.4063G>T (p.Gly1355Ter) c.473G>T c.3631G>T (p.Gly1211Ter) c.4027G>T (p.Gly1343Ter) c.2236G>T (p.Gly746Ter) c.4678G>T (p.Gly1560Ter) c.4552G>T (p.Gly1518Ter) c.4495G>T (p.Gly1499Ter) c.4222G>T (p.Gly1408Ter) c.4609G>T (p.Gly1537Ter) c.4543G>T (p.Gly1515Ter) c.4483G>T (p.Gly1495Ter) c.4369G>T (p.Gly1457Ter) c.4348G>T (p.Gly1450Ter) c.4213G>T (p.Gly1405Ter) c.4153G>T (p.Gly1385Ter) c.4087G>T (p.Gly1363Ter) c.4084G>T (p.Gly1362Ter) c.4075G>T (p.Gly1359Ter) c.4018G>T (p.Gly1340Ter) c.3901G>T (p.Gly1301Ter) | COSMIC |
3 | g.77644785G>A | CA353533493 | ROBO2 | c.4211G>A (p.Gly1404Glu) c.4202G>A (p.Gly1401Glu) c.4097G>A (p.Gly1366Glu) c.4289G>A (p.Gly1430Glu) c.*959G>A (n.*959G>A) c.4301G>A (p.Gly1434Glu) c.4475G>A (p.Gly1492Glu) c.*2449G>A (n.*2449G>A) c.4142G>A (p.Gly1381Glu) c.557G>A (p.Gly186Glu) c.4199G>A (p.Gly1400Glu) c.4016G>A (p.Gly1339Glu) n.6004G>A c.*2460G>A (n.*2460G>A) c.510G>A c.4064G>A (p.Gly1355Glu) c.474G>A c.3632G>A (p.Gly1211Glu) c.4028G>A (p.Gly1343Glu) c.2237G>A (p.Gly746Glu) c.4679G>A (p.Gly1560Glu) c.4553G>A (p.Gly1518Glu) c.4496G>A (p.Gly1499Glu) c.4223G>A (p.Gly1408Glu) c.4610G>A (p.Gly1537Glu) c.4544G>A (p.Gly1515Glu) c.4484G>A (p.Gly1495Glu) c.4370G>A (p.Gly1457Glu) c.4349G>A (p.Gly1450Glu) c.4214G>A (p.Gly1405Glu) c.4154G>A (p.Gly1385Glu) c.4088G>A (p.Gly1363Glu) c.4085G>A (p.Gly1362Glu) c.4076G>A (p.Gly1359Glu) c.4019G>A (p.Gly1340Glu) c.3902G>A (p.Gly1301Glu) | gnomAD v4 COSMIC COSMIC |
3 | g.77644785G>C | CA353533495 | ROBO2 | c.4211G>C (p.Gly1404Ala) c.4202G>C (p.Gly1401Ala) c.4097G>C (p.Gly1366Ala) c.4289G>C (p.Gly1430Ala) c.*959G>C (n.*959G>C) c.4301G>C (p.Gly1434Ala) c.4475G>C (p.Gly1492Ala) c.*2449G>C (n.*2449G>C) c.4142G>C (p.Gly1381Ala) c.557G>C (p.Gly186Ala) c.4199G>C (p.Gly1400Ala) c.4016G>C (p.Gly1339Ala) n.6004G>C c.*2460G>C (n.*2460G>C) c.510G>C c.4064G>C (p.Gly1355Ala) c.474G>C c.3632G>C (p.Gly1211Ala) c.4028G>C (p.Gly1343Ala) c.2237G>C (p.Gly746Ala) c.4679G>C (p.Gly1560Ala) c.4553G>C (p.Gly1518Ala) c.4496G>C (p.Gly1499Ala) c.4223G>C (p.Gly1408Ala) c.4610G>C (p.Gly1537Ala) c.4544G>C (p.Gly1515Ala) c.4484G>C (p.Gly1495Ala) c.4370G>C (p.Gly1457Ala) c.4349G>C (p.Gly1450Ala) c.4214G>C (p.Gly1405Ala) c.4154G>C (p.Gly1385Ala) c.4088G>C (p.Gly1363Ala) c.4085G>C (p.Gly1362Ala) c.4076G>C (p.Gly1359Ala) c.4019G>C (p.Gly1340Ala) c.3902G>C (p.Gly1301Ala) | |
3 | g.77644785G>T | CA353533497 | ROBO2 | c.4211G>T (p.Gly1404Val) c.4202G>T (p.Gly1401Val) c.4097G>T (p.Gly1366Val) c.4289G>T (p.Gly1430Val) c.*959G>T (n.*959G>T) c.4301G>T (p.Gly1434Val) c.4475G>T (p.Gly1492Val) c.*2449G>T (n.*2449G>T) c.4142G>T (p.Gly1381Val) c.557G>T (p.Gly186Val) c.4199G>T (p.Gly1400Val) c.4016G>T (p.Gly1339Val) n.6004G>T c.*2460G>T (n.*2460G>T) c.510G>T c.4064G>T (p.Gly1355Val) c.474G>T c.3632G>T (p.Gly1211Val) c.4028G>T (p.Gly1343Val) c.2237G>T (p.Gly746Val) c.4679G>T (p.Gly1560Val) c.4553G>T (p.Gly1518Val) c.4496G>T (p.Gly1499Val) c.4223G>T (p.Gly1408Val) c.4610G>T (p.Gly1537Val) c.4544G>T (p.Gly1515Val) c.4484G>T (p.Gly1495Val) c.4370G>T (p.Gly1457Val) c.4349G>T (p.Gly1450Val) c.4214G>T (p.Gly1405Val) c.4154G>T (p.Gly1385Val) c.4088G>T (p.Gly1363Val) c.4085G>T (p.Gly1362Val) c.4076G>T (p.Gly1359Val) c.4019G>T (p.Gly1340Val) c.3902G>T (p.Gly1301Val) | |
3 | g.77644786A>C | CA434435280 | ROBO2 | c.4212A>C (p.Gly1404=) c.4203A>C (p.Gly1401=) c.4098A>C (p.Gly1366=) c.4290A>C (p.Gly1430=) c.*960A>C (n.*960A>C) c.4302A>C (p.Gly1434=) c.4476A>C (p.Gly1492=) c.*2450A>C (n.*2450A>C) c.4143A>C (p.Gly1381=) c.558A>C (p.Gly186=) c.4200A>C (p.Gly1400=) c.4017A>C (p.Gly1339=) n.6005A>C c.*2461A>C (n.*2461A>C) c.511A>C c.4065A>C (p.Gly1355=) c.475A>C c.3633A>C (p.Gly1211=) c.4029A>C (p.Gly1343=) c.2238A>C (p.Gly746=) c.4680A>C (p.Gly1560=) c.4554A>C (p.Gly1518=) c.4497A>C (p.Gly1499=) c.4224A>C (p.Gly1408=) c.4611A>C (p.Gly1537=) c.4545A>C (p.Gly1515=) c.4485A>C (p.Gly1495=) c.4371A>C (p.Gly1457=) c.4350A>C (p.Gly1450=) c.4215A>C (p.Gly1405=) c.4155A>C (p.Gly1385=) c.4089A>C (p.Gly1363=) c.4086A>C (p.Gly1362=) c.4077A>C (p.Gly1359=) c.4020A>C (p.Gly1340=) c.3903A>C (p.Gly1301=) | |
3 | g.77644786A>G | CA434435281 | ROBO2 | c.4212A>G (p.Gly1404=) c.4203A>G (p.Gly1401=) c.4098A>G (p.Gly1366=) c.4290A>G (p.Gly1430=) c.*960A>G (n.*960A>G) c.4302A>G (p.Gly1434=) c.4476A>G (p.Gly1492=) c.*2450A>G (n.*2450A>G) c.4143A>G (p.Gly1381=) c.558A>G (p.Gly186=) c.4200A>G (p.Gly1400=) c.4017A>G (p.Gly1339=) n.6005A>G c.*2461A>G (n.*2461A>G) c.511A>G c.4065A>G (p.Gly1355=) c.475A>G c.3633A>G (p.Gly1211=) c.4029A>G (p.Gly1343=) c.2238A>G (p.Gly746=) c.4680A>G (p.Gly1560=) c.4554A>G (p.Gly1518=) c.4497A>G (p.Gly1499=) c.4224A>G (p.Gly1408=) c.4611A>G (p.Gly1537=) c.4545A>G (p.Gly1515=) c.4485A>G (p.Gly1495=) c.4371A>G (p.Gly1457=) c.4350A>G (p.Gly1450=) c.4215A>G (p.Gly1405=) c.4155A>G (p.Gly1385=) c.4089A>G (p.Gly1363=) c.4086A>G (p.Gly1362=) c.4077A>G (p.Gly1359=) c.4020A>G (p.Gly1340=) c.3903A>G (p.Gly1301=) | |
3 | g.77644786A>T | CA434435282 | ROBO2 | c.4212A>T (p.Gly1404=) c.4203A>T (p.Gly1401=) c.4098A>T (p.Gly1366=) c.4290A>T (p.Gly1430=) c.*960A>T (n.*960A>T) c.4302A>T (p.Gly1434=) c.4476A>T (p.Gly1492=) c.*2450A>T (n.*2450A>T) c.4143A>T (p.Gly1381=) c.558A>T (p.Gly186=) c.4200A>T (p.Gly1400=) c.4017A>T (p.Gly1339=) n.6005A>T c.*2461A>T (n.*2461A>T) c.511A>T c.4065A>T (p.Gly1355=) c.475A>T c.3633A>T (p.Gly1211=) c.4029A>T (p.Gly1343=) c.2238A>T (p.Gly746=) c.4680A>T (p.Gly1560=) c.4554A>T (p.Gly1518=) c.4497A>T (p.Gly1499=) c.4224A>T (p.Gly1408=) c.4611A>T (p.Gly1537=) c.4545A>T (p.Gly1515=) c.4485A>T (p.Gly1495=) c.4371A>T (p.Gly1457=) c.4350A>T (p.Gly1450=) c.4215A>T (p.Gly1405=) c.4155A>T (p.Gly1385=) c.4089A>T (p.Gly1363=) c.4086A>T (p.Gly1362=) c.4077A>T (p.Gly1359=) c.4020A>T (p.Gly1340=) c.3903A>T (p.Gly1301=) | |
3 | g.77644787T>A | CA353533499 | ROBO2 | c.4213T>A (p.Ser1405Thr) c.4204T>A (p.Ser1402Thr) c.4099T>A (p.Ser1367Thr) c.4291T>A (p.Ser1431Thr) c.*961T>A (n.*961T>A) c.4303T>A (p.Ser1435Thr) c.4477T>A (p.Ser1493Thr) c.*2451T>A (n.*2451T>A) c.4144T>A (p.Ser1382Thr) c.559T>A (p.Ser187Thr) c.4201T>A (p.Ser1401Thr) c.4018T>A (p.Ser1340Thr) n.6006T>A c.*2462T>A (n.*2462T>A) c.512T>A c.4066T>A (p.Ser1356Thr) c.476T>A c.3634T>A (p.Ser1212Thr) c.4030T>A (p.Ser1344Thr) c.2239T>A (p.Ser747Thr) c.4681T>A (p.Ser1561Thr) c.4555T>A (p.Ser1519Thr) c.4498T>A (p.Ser1500Thr) c.4225T>A (p.Ser1409Thr) c.4612T>A (p.Ser1538Thr) c.4546T>A (p.Ser1516Thr) c.4486T>A (p.Ser1496Thr) c.4372T>A (p.Ser1458Thr) c.4351T>A (p.Ser1451Thr) c.4216T>A (p.Ser1406Thr) c.4156T>A (p.Ser1386Thr) c.4090T>A (p.Ser1364Thr) c.4087T>A (p.Ser1363Thr) c.4078T>A (p.Ser1360Thr) c.4021T>A (p.Ser1341Thr) c.3904T>A (p.Ser1302Thr) | |
3 | g.77644787T>C | CA353533500 | ROBO2 | c.4213T>C (p.Ser1405Pro) c.4204T>C (p.Ser1402Pro) c.4099T>C (p.Ser1367Pro) c.4291T>C (p.Ser1431Pro) c.*961T>C (n.*961T>C) c.4303T>C (p.Ser1435Pro) c.4477T>C (p.Ser1493Pro) c.*2451T>C (n.*2451T>C) c.4144T>C (p.Ser1382Pro) c.559T>C (p.Ser187Pro) c.4201T>C (p.Ser1401Pro) c.4018T>C (p.Ser1340Pro) n.6006T>C c.*2462T>C (n.*2462T>C) c.512T>C c.4066T>C (p.Ser1356Pro) c.476T>C c.3634T>C (p.Ser1212Pro) c.4030T>C (p.Ser1344Pro) c.2239T>C (p.Ser747Pro) c.4681T>C (p.Ser1561Pro) c.4555T>C (p.Ser1519Pro) c.4498T>C (p.Ser1500Pro) c.4225T>C (p.Ser1409Pro) c.4612T>C (p.Ser1538Pro) c.4546T>C (p.Ser1516Pro) c.4486T>C (p.Ser1496Pro) c.4372T>C (p.Ser1458Pro) c.4351T>C (p.Ser1451Pro) c.4216T>C (p.Ser1406Pro) c.4156T>C (p.Ser1386Pro) c.4090T>C (p.Ser1364Pro) c.4087T>C (p.Ser1363Pro) c.4078T>C (p.Ser1360Pro) c.4021T>C (p.Ser1341Pro) c.3904T>C (p.Ser1302Pro) | |
3 | g.77644787T>G | CA353533501 | ROBO2 | c.4213T>G (p.Ser1405Ala) c.4204T>G (p.Ser1402Ala) c.4099T>G (p.Ser1367Ala) c.4291T>G (p.Ser1431Ala) c.*961T>G (n.*961T>G) c.4303T>G (p.Ser1435Ala) c.4477T>G (p.Ser1493Ala) c.*2451T>G (n.*2451T>G) c.4144T>G (p.Ser1382Ala) c.559T>G (p.Ser187Ala) c.4201T>G (p.Ser1401Ala) c.4018T>G (p.Ser1340Ala) n.6006T>G c.*2462T>G (n.*2462T>G) c.512T>G c.4066T>G (p.Ser1356Ala) c.476T>G c.3634T>G (p.Ser1212Ala) c.4030T>G (p.Ser1344Ala) c.2239T>G (p.Ser747Ala) c.4681T>G (p.Ser1561Ala) c.4555T>G (p.Ser1519Ala) c.4498T>G (p.Ser1500Ala) c.4225T>G (p.Ser1409Ala) c.4612T>G (p.Ser1538Ala) c.4546T>G (p.Ser1516Ala) c.4486T>G (p.Ser1496Ala) c.4372T>G (p.Ser1458Ala) c.4351T>G (p.Ser1451Ala) c.4216T>G (p.Ser1406Ala) c.4156T>G (p.Ser1386Ala) c.4090T>G (p.Ser1364Ala) c.4087T>G (p.Ser1363Ala) c.4078T>G (p.Ser1360Ala) c.4021T>G (p.Ser1341Ala) c.3904T>G (p.Ser1302Ala) | |
3 | g.77644788C>A | CA353533503 | ROBO2 | c.4214C>A (p.Ser1405Tyr) c.4205C>A (p.Ser1402Tyr) c.4100C>A (p.Ser1367Tyr) c.4292C>A (p.Ser1431Tyr) c.*962C>A (n.*962C>A) c.4304C>A (p.Ser1435Tyr) c.4478C>A (p.Ser1493Tyr) c.*2452C>A (n.*2452C>A) c.4145C>A (p.Ser1382Tyr) c.560C>A (p.Ser187Tyr) c.4202C>A (p.Ser1401Tyr) c.4019C>A (p.Ser1340Tyr) n.6007C>A c.*2463C>A (n.*2463C>A) c.513C>A c.4067C>A (p.Ser1356Tyr) c.477C>A c.3635C>A (p.Ser1212Tyr) c.4031C>A (p.Ser1344Tyr) c.2240C>A (p.Ser747Tyr) c.4682C>A (p.Ser1561Tyr) c.4556C>A (p.Ser1519Tyr) c.4499C>A (p.Ser1500Tyr) c.4226C>A (p.Ser1409Tyr) c.4613C>A (p.Ser1538Tyr) c.4547C>A (p.Ser1516Tyr) c.4487C>A (p.Ser1496Tyr) c.4373C>A (p.Ser1458Tyr) c.4352C>A (p.Ser1451Tyr) c.4217C>A (p.Ser1406Tyr) c.4157C>A (p.Ser1386Tyr) c.4091C>A (p.Ser1364Tyr) c.4088C>A (p.Ser1363Tyr) c.4079C>A (p.Ser1360Tyr) c.4022C>A (p.Ser1341Tyr) c.3905C>A (p.Ser1302Tyr) | |
3 | g.77644788C>G | CA353533504 | ROBO2 | c.4214C>G (p.Ser1405Cys) c.4205C>G (p.Ser1402Cys) c.4100C>G (p.Ser1367Cys) c.4292C>G (p.Ser1431Cys) c.*962C>G (n.*962C>G) c.4304C>G (p.Ser1435Cys) c.4478C>G (p.Ser1493Cys) c.*2452C>G (n.*2452C>G) c.4145C>G (p.Ser1382Cys) c.560C>G (p.Ser187Cys) c.4202C>G (p.Ser1401Cys) c.4019C>G (p.Ser1340Cys) n.6007C>G c.*2463C>G (n.*2463C>G) c.513C>G c.4067C>G (p.Ser1356Cys) c.477C>G c.3635C>G (p.Ser1212Cys) c.4031C>G (p.Ser1344Cys) c.2240C>G (p.Ser747Cys) c.4682C>G (p.Ser1561Cys) c.4556C>G (p.Ser1519Cys) c.4499C>G (p.Ser1500Cys) c.4226C>G (p.Ser1409Cys) c.4613C>G (p.Ser1538Cys) c.4547C>G (p.Ser1516Cys) c.4487C>G (p.Ser1496Cys) c.4373C>G (p.Ser1458Cys) c.4352C>G (p.Ser1451Cys) c.4217C>G (p.Ser1406Cys) c.4157C>G (p.Ser1386Cys) c.4091C>G (p.Ser1364Cys) c.4088C>G (p.Ser1363Cys) c.4079C>G (p.Ser1360Cys) c.4022C>G (p.Ser1341Cys) c.3905C>G (p.Ser1302Cys) | |
3 | g.77644788C>T | CA353533505 | ROBO2 | c.4214C>T (p.Ser1405Phe) c.4205C>T (p.Ser1402Phe) c.4100C>T (p.Ser1367Phe) c.4292C>T (p.Ser1431Phe) c.*962C>T (n.*962C>T) c.4304C>T (p.Ser1435Phe) c.4478C>T (p.Ser1493Phe) c.*2452C>T (n.*2452C>T) c.4145C>T (p.Ser1382Phe) c.560C>T (p.Ser187Phe) c.4202C>T (p.Ser1401Phe) c.4019C>T (p.Ser1340Phe) n.6007C>T c.*2463C>T (n.*2463C>T) c.513C>T c.4067C>T (p.Ser1356Phe) c.477C>T c.3635C>T (p.Ser1212Phe) c.4031C>T (p.Ser1344Phe) c.2240C>T (p.Ser747Phe) c.4682C>T (p.Ser1561Phe) c.4556C>T (p.Ser1519Phe) c.4499C>T (p.Ser1500Phe) c.4226C>T (p.Ser1409Phe) c.4613C>T (p.Ser1538Phe) c.4547C>T (p.Ser1516Phe) c.4487C>T (p.Ser1496Phe) c.4373C>T (p.Ser1458Phe) c.4352C>T (p.Ser1451Phe) c.4217C>T (p.Ser1406Phe) c.4157C>T (p.Ser1386Phe) c.4091C>T (p.Ser1364Phe) c.4088C>T (p.Ser1363Phe) c.4079C>T (p.Ser1360Phe) c.4022C>T (p.Ser1341Phe) c.3905C>T (p.Ser1302Phe) | |
3 | g.77644789C>A | CA434435283 | ROBO2 | c.4215C>A (p.Ser1405=) c.4206C>A (p.Ser1402=) c.4101C>A (p.Ser1367=) c.4293C>A (p.Ser1431=) c.*963C>A (n.*963C>A) c.4305C>A (p.Ser1435=) c.4479C>A (p.Ser1493=) c.*2453C>A (n.*2453C>A) c.4146C>A (p.Ser1382=) c.561C>A (p.Ser187=) c.4203C>A (p.Ser1401=) c.4020C>A (p.Ser1340=) n.6008C>A c.*2464C>A (n.*2464C>A) c.514C>A c.4068C>A (p.Ser1356=) c.478C>A c.3636C>A (p.Ser1212=) c.4032C>A (p.Ser1344=) c.2241C>A (p.Ser747=) c.4683C>A (p.Ser1561=) c.4557C>A (p.Ser1519=) c.4500C>A (p.Ser1500=) c.4227C>A (p.Ser1409=) c.4614C>A (p.Ser1538=) c.4548C>A (p.Ser1516=) c.4488C>A (p.Ser1496=) c.4374C>A (p.Ser1458=) c.4353C>A (p.Ser1451=) c.4218C>A (p.Ser1406=) c.4158C>A (p.Ser1386=) c.4092C>A (p.Ser1364=) c.4089C>A (p.Ser1363=) c.4080C>A (p.Ser1360=) c.4023C>A (p.Ser1341=) c.3906C>A (p.Ser1302=) | |
3 | g.77644789C>G | CA434435284 | ROBO2 | c.4215C>G (p.Ser1405=) c.4206C>G (p.Ser1402=) c.4101C>G (p.Ser1367=) c.4293C>G (p.Ser1431=) c.*963C>G (n.*963C>G) c.4305C>G (p.Ser1435=) c.4479C>G (p.Ser1493=) c.*2453C>G (n.*2453C>G) c.4146C>G (p.Ser1382=) c.561C>G (p.Ser187=) c.4203C>G (p.Ser1401=) c.4020C>G (p.Ser1340=) n.6008C>G c.*2464C>G (n.*2464C>G) c.514C>G c.4068C>G (p.Ser1356=) c.478C>G c.3636C>G (p.Ser1212=) c.4032C>G (p.Ser1344=) c.2241C>G (p.Ser747=) c.4683C>G (p.Ser1561=) c.4557C>G (p.Ser1519=) c.4500C>G (p.Ser1500=) c.4227C>G (p.Ser1409=) c.4614C>G (p.Ser1538=) c.4548C>G (p.Ser1516=) c.4488C>G (p.Ser1496=) c.4374C>G (p.Ser1458=) c.4353C>G (p.Ser1451=) c.4218C>G (p.Ser1406=) c.4158C>G (p.Ser1386=) c.4092C>G (p.Ser1364=) c.4089C>G (p.Ser1363=) c.4080C>G (p.Ser1360=) c.4023C>G (p.Ser1341=) c.3906C>G (p.Ser1302=) | |
3 | g.77644789C>T | CA434435285 | ROBO2 | c.4215C>T (p.Ser1405=) c.4206C>T (p.Ser1402=) c.4101C>T (p.Ser1367=) c.4293C>T (p.Ser1431=) c.*963C>T (n.*963C>T) c.4305C>T (p.Ser1435=) c.4479C>T (p.Ser1493=) c.*2453C>T (n.*2453C>T) c.4146C>T (p.Ser1382=) c.561C>T (p.Ser187=) c.4203C>T (p.Ser1401=) c.4020C>T (p.Ser1340=) n.6008C>T c.*2464C>T (n.*2464C>T) c.514C>T c.4068C>T (p.Ser1356=) c.478C>T c.3636C>T (p.Ser1212=) c.4032C>T (p.Ser1344=) c.2241C>T (p.Ser747=) c.4683C>T (p.Ser1561=) c.4557C>T (p.Ser1519=) c.4500C>T (p.Ser1500=) c.4227C>T (p.Ser1409=) c.4614C>T (p.Ser1538=) c.4548C>T (p.Ser1516=) c.4488C>T (p.Ser1496=) c.4374C>T (p.Ser1458=) c.4353C>T (p.Ser1451=) c.4218C>T (p.Ser1406=) c.4158C>T (p.Ser1386=) c.4092C>T (p.Ser1364=) c.4089C>T (p.Ser1363=) c.4080C>T (p.Ser1360=) c.4023C>T (p.Ser1341=) c.3906C>T (p.Ser1302=) | |
3 | g.77644790A>C | CA353533511 | ROBO2 | c.4216A>C (p.Thr1406Pro) c.4207A>C (p.Thr1403Pro) c.4102A>C (p.Thr1368Pro) c.4294A>C (p.Thr1432Pro) c.*964A>C (n.*964A>C) c.4306A>C (p.Thr1436Pro) c.4480A>C (p.Thr1494Pro) c.*2454A>C (n.*2454A>C) c.4147A>C (p.Thr1383Pro) c.562A>C (p.Thr188Pro) c.4204A>C (p.Thr1402Pro) c.4021A>C (p.Thr1341Pro) n.6009A>C c.*2465A>C (n.*2465A>C) c.515A>C c.4069A>C (p.Thr1357Pro) c.479A>C c.3637A>C (p.Thr1213Pro) c.4033A>C (p.Thr1345Pro) c.2242A>C (p.Thr748Pro) c.4684A>C (p.Thr1562Pro) c.4558A>C (p.Thr1520Pro) c.4501A>C (p.Thr1501Pro) c.4228A>C (p.Thr1410Pro) c.4615A>C (p.Thr1539Pro) c.4549A>C (p.Thr1517Pro) c.4489A>C (p.Thr1497Pro) c.4375A>C (p.Thr1459Pro) c.4354A>C (p.Thr1452Pro) c.4219A>C (p.Thr1407Pro) c.4159A>C (p.Thr1387Pro) c.4093A>C (p.Thr1365Pro) c.4090A>C (p.Thr1364Pro) c.4081A>C (p.Thr1361Pro) c.4024A>C (p.Thr1342Pro) c.3907A>C (p.Thr1303Pro) | |
3 | g.77644790A>G | CA353533509 | ROBO2 | c.4216A>G (p.Thr1406Ala) c.4207A>G (p.Thr1403Ala) c.4102A>G (p.Thr1368Ala) c.4294A>G (p.Thr1432Ala) c.*964A>G (n.*964A>G) c.4306A>G (p.Thr1436Ala) c.4480A>G (p.Thr1494Ala) c.*2454A>G (n.*2454A>G) c.4147A>G (p.Thr1383Ala) c.562A>G (p.Thr188Ala) c.4204A>G (p.Thr1402Ala) c.4021A>G (p.Thr1341Ala) n.6009A>G c.*2465A>G (n.*2465A>G) c.515A>G c.4069A>G (p.Thr1357Ala) c.479A>G c.3637A>G (p.Thr1213Ala) c.4033A>G (p.Thr1345Ala) c.2242A>G (p.Thr748Ala) c.4684A>G (p.Thr1562Ala) c.4558A>G (p.Thr1520Ala) c.4501A>G (p.Thr1501Ala) c.4228A>G (p.Thr1410Ala) c.4615A>G (p.Thr1539Ala) c.4549A>G (p.Thr1517Ala) c.4489A>G (p.Thr1497Ala) c.4375A>G (p.Thr1459Ala) c.4354A>G (p.Thr1452Ala) c.4219A>G (p.Thr1407Ala) c.4159A>G (p.Thr1387Ala) c.4093A>G (p.Thr1365Ala) c.4090A>G (p.Thr1364Ala) c.4081A>G (p.Thr1361Ala) c.4024A>G (p.Thr1342Ala) c.3907A>G (p.Thr1303Ala) | |
3 | g.77644790A>T | CA353533507 | ROBO2 | c.4216A>T (p.Thr1406Ser) c.4207A>T (p.Thr1403Ser) c.4102A>T (p.Thr1368Ser) c.4294A>T (p.Thr1432Ser) c.*964A>T (n.*964A>T) c.4306A>T (p.Thr1436Ser) c.4480A>T (p.Thr1494Ser) c.*2454A>T (n.*2454A>T) c.4147A>T (p.Thr1383Ser) c.562A>T (p.Thr188Ser) c.4204A>T (p.Thr1402Ser) c.4021A>T (p.Thr1341Ser) n.6009A>T c.*2465A>T (n.*2465A>T) c.515A>T c.4069A>T (p.Thr1357Ser) c.479A>T c.3637A>T (p.Thr1213Ser) c.4033A>T (p.Thr1345Ser) c.2242A>T (p.Thr748Ser) c.4684A>T (p.Thr1562Ser) c.4558A>T (p.Thr1520Ser) c.4501A>T (p.Thr1501Ser) c.4228A>T (p.Thr1410Ser) c.4615A>T (p.Thr1539Ser) c.4549A>T (p.Thr1517Ser) c.4489A>T (p.Thr1497Ser) c.4375A>T (p.Thr1459Ser) c.4354A>T (p.Thr1452Ser) c.4219A>T (p.Thr1407Ser) c.4159A>T (p.Thr1387Ser) c.4093A>T (p.Thr1365Ser) c.4090A>T (p.Thr1364Ser) c.4081A>T (p.Thr1361Ser) c.4024A>T (p.Thr1342Ser) c.3907A>T (p.Thr1303Ser) | |
3 | g.77644791C>A | CA353533513 | ROBO2 | c.4217C>A (p.Thr1406Asn) c.4208C>A (p.Thr1403Asn) c.4103C>A (p.Thr1368Asn) c.4295C>A (p.Thr1432Asn) c.*965C>A (n.*965C>A) c.4307C>A (p.Thr1436Asn) c.4481C>A (p.Thr1494Asn) c.*2455C>A (n.*2455C>A) c.4148C>A (p.Thr1383Asn) c.563C>A (p.Thr188Asn) c.4205C>A (p.Thr1402Asn) c.4022C>A (p.Thr1341Asn) n.6010C>A c.*2466C>A (n.*2466C>A) c.516C>A c.4070C>A (p.Thr1357Asn) c.480C>A c.3638C>A (p.Thr1213Asn) c.4034C>A (p.Thr1345Asn) c.2243C>A (p.Thr748Asn) c.4685C>A (p.Thr1562Asn) c.4559C>A (p.Thr1520Asn) c.4502C>A (p.Thr1501Asn) c.4229C>A (p.Thr1410Asn) c.4616C>A (p.Thr1539Asn) c.4550C>A (p.Thr1517Asn) c.4490C>A (p.Thr1497Asn) c.4376C>A (p.Thr1459Asn) c.4355C>A (p.Thr1452Asn) c.4220C>A (p.Thr1407Asn) c.4160C>A (p.Thr1387Asn) c.4094C>A (p.Thr1365Asn) c.4091C>A (p.Thr1364Asn) c.4082C>A (p.Thr1361Asn) c.4025C>A (p.Thr1342Asn) c.3908C>A (p.Thr1303Asn) | |
3 | g.77644791C= | CA1376777948 | ROBO2 | c.4217C= (p.Thr1406=) c.4208C= (p.Thr1403=) c.4103C= (p.Thr1368=) c.4295C= (p.Thr1432=) c.*965C= (n.*965C=) c.4307C= (p.Thr1436=) c.4481C= (p.Thr1494=) c.*2455C= (n.*2455C=) c.4148C= (p.Thr1383=) c.563C= (p.Thr188=) c.4205C= (p.Thr1402=) c.4022C= (p.Thr1341=) n.6010C= c.*2466C= (n.*2466C=) c.516C= c.4070C= (p.Thr1357=) c.480C= c.3638C= (p.Thr1213=) c.4034C= (p.Thr1345=) c.2243C= (p.Thr748=) c.4685C= (p.Thr1562=) c.4559C= (p.Thr1520=) c.4502C= (p.Thr1501=) c.4229C= (p.Thr1410=) c.4616C= (p.Thr1539=) c.4550C= (p.Thr1517=) c.4490C= (p.Thr1497=) c.4376C= (p.Thr1459=) c.4355C= (p.Thr1452=) c.4220C= (p.Thr1407=) c.4160C= (p.Thr1387=) c.4094C= (p.Thr1365=) c.4091C= (p.Thr1364=) c.4082C= (p.Thr1361=) c.4025C= (p.Thr1342=) c.3908C= (p.Thr1303=) | |
3 | g.77644791C>G | CA353533515 | ROBO2 | c.4217C>G (p.Thr1406Ser) c.4208C>G (p.Thr1403Ser) c.4103C>G (p.Thr1368Ser) c.4295C>G (p.Thr1432Ser) c.*965C>G (n.*965C>G) c.4307C>G (p.Thr1436Ser) c.4481C>G (p.Thr1494Ser) c.*2455C>G (n.*2455C>G) c.4148C>G (p.Thr1383Ser) c.563C>G (p.Thr188Ser) c.4205C>G (p.Thr1402Ser) c.4022C>G (p.Thr1341Ser) n.6010C>G c.*2466C>G (n.*2466C>G) c.516C>G c.4070C>G (p.Thr1357Ser) c.480C>G c.3638C>G (p.Thr1213Ser) c.4034C>G (p.Thr1345Ser) c.2243C>G (p.Thr748Ser) c.4685C>G (p.Thr1562Ser) c.4559C>G (p.Thr1520Ser) c.4502C>G (p.Thr1501Ser) c.4229C>G (p.Thr1410Ser) c.4616C>G (p.Thr1539Ser) c.4550C>G (p.Thr1517Ser) c.4490C>G (p.Thr1497Ser) c.4376C>G (p.Thr1459Ser) c.4355C>G (p.Thr1452Ser) c.4220C>G (p.Thr1407Ser) c.4160C>G (p.Thr1387Ser) c.4094C>G (p.Thr1365Ser) c.4091C>G (p.Thr1364Ser) c.4082C>G (p.Thr1361Ser) c.4025C>G (p.Thr1342Ser) c.3908C>G (p.Thr1303Ser) | gnomAD v4 COSMIC COSMIC |
3 | g.77644791C>T | CA2497827 | ROBO2 | c.4217C>T (p.Thr1406Ile) c.4208C>T (p.Thr1403Ile) c.4103C>T (p.Thr1368Ile) c.4295C>T (p.Thr1432Ile) c.*965C>T (n.*965C>T) c.4307C>T (p.Thr1436Ile) c.4481C>T (p.Thr1494Ile) c.*2455C>T (n.*2455C>T) c.4148C>T (p.Thr1383Ile) c.563C>T (p.Thr188Ile) c.4205C>T (p.Thr1402Ile) c.4022C>T (p.Thr1341Ile) n.6010C>T c.*2466C>T (n.*2466C>T) c.516C>T c.4070C>T (p.Thr1357Ile) c.480C>T c.3638C>T (p.Thr1213Ile) c.4034C>T (p.Thr1345Ile) c.2243C>T (p.Thr748Ile) c.4685C>T (p.Thr1562Ile) c.4559C>T (p.Thr1520Ile) c.4502C>T (p.Thr1501Ile) c.4229C>T (p.Thr1410Ile) c.4616C>T (p.Thr1539Ile) c.4550C>T (p.Thr1517Ile) c.4490C>T (p.Thr1497Ile) c.4376C>T (p.Thr1459Ile) c.4355C>T (p.Thr1452Ile) c.4220C>T (p.Thr1407Ile) c.4160C>T (p.Thr1387Ile) c.4094C>T (p.Thr1365Ile) c.4091C>T (p.Thr1364Ile) c.4082C>T (p.Thr1361Ile) c.4025C>T (p.Thr1342Ile) c.3908C>T (p.Thr1303Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.77644792T>A | CA434435287 | ROBO2 | c.4218T>A (p.Thr1406=) c.4209T>A (p.Thr1403=) c.4104T>A (p.Thr1368=) c.4296T>A (p.Thr1432=) c.*966T>A (n.*966T>A) c.4308T>A (p.Thr1436=) c.4482T>A (p.Thr1494=) c.*2456T>A (n.*2456T>A) c.4149T>A (p.Thr1383=) c.564T>A (p.Thr188=) c.4206T>A (p.Thr1402=) c.4023T>A (p.Thr1341=) n.6011T>A c.*2467T>A (n.*2467T>A) c.517T>A c.4071T>A (p.Thr1357=) c.481T>A c.3639T>A (p.Thr1213=) c.4035T>A (p.Thr1345=) c.2244T>A (p.Thr748=) c.4686T>A (p.Thr1562=) c.4560T>A (p.Thr1520=) c.4503T>A (p.Thr1501=) c.4230T>A (p.Thr1410=) c.4617T>A (p.Thr1539=) c.4551T>A (p.Thr1517=) c.4491T>A (p.Thr1497=) c.4377T>A (p.Thr1459=) c.4356T>A (p.Thr1452=) c.4221T>A (p.Thr1407=) c.4161T>A (p.Thr1387=) c.4095T>A (p.Thr1365=) c.4092T>A (p.Thr1364=) c.4083T>A (p.Thr1361=) c.4026T>A (p.Thr1342=) c.3909T>A (p.Thr1303=) | |
3 | g.77644792T>C | CA434435288 | ROBO2 | c.4218T>C (p.Thr1406=) c.4209T>C (p.Thr1403=) c.4104T>C (p.Thr1368=) c.4296T>C (p.Thr1432=) c.*966T>C (n.*966T>C) c.4308T>C (p.Thr1436=) c.4482T>C (p.Thr1494=) c.*2456T>C (n.*2456T>C) c.4149T>C (p.Thr1383=) c.564T>C (p.Thr188=) c.4206T>C (p.Thr1402=) c.4023T>C (p.Thr1341=) n.6011T>C c.*2467T>C (n.*2467T>C) c.517T>C c.4071T>C (p.Thr1357=) c.481T>C c.3639T>C (p.Thr1213=) c.4035T>C (p.Thr1345=) c.2244T>C (p.Thr748=) c.4686T>C (p.Thr1562=) c.4560T>C (p.Thr1520=) c.4503T>C (p.Thr1501=) c.4230T>C (p.Thr1410=) c.4617T>C (p.Thr1539=) c.4551T>C (p.Thr1517=) c.4491T>C (p.Thr1497=) c.4377T>C (p.Thr1459=) c.4356T>C (p.Thr1452=) c.4221T>C (p.Thr1407=) c.4161T>C (p.Thr1387=) c.4095T>C (p.Thr1365=) c.4092T>C (p.Thr1364=) c.4083T>C (p.Thr1361=) c.4026T>C (p.Thr1342=) c.3909T>C (p.Thr1303=) | dbSNP gnomAD v4 |
3 | g.77644792T>G | CA434435286 | ROBO2 | c.4218T>G (p.Thr1406=) c.4209T>G (p.Thr1403=) c.4104T>G (p.Thr1368=) c.4296T>G (p.Thr1432=) c.*966T>G (n.*966T>G) c.4308T>G (p.Thr1436=) c.4482T>G (p.Thr1494=) c.*2456T>G (n.*2456T>G) c.4149T>G (p.Thr1383=) c.564T>G (p.Thr188=) c.4206T>G (p.Thr1402=) c.4023T>G (p.Thr1341=) n.6011T>G c.*2467T>G (n.*2467T>G) c.517T>G c.4071T>G (p.Thr1357=) c.481T>G c.3639T>G (p.Thr1213=) c.4035T>G (p.Thr1345=) c.2244T>G (p.Thr748=) c.4686T>G (p.Thr1562=) c.4560T>G (p.Thr1520=) c.4503T>G (p.Thr1501=) c.4230T>G (p.Thr1410=) c.4617T>G (p.Thr1539=) c.4551T>G (p.Thr1517=) c.4491T>G (p.Thr1497=) c.4377T>G (p.Thr1459=) c.4356T>G (p.Thr1452=) c.4221T>G (p.Thr1407=) c.4161T>G (p.Thr1387=) c.4095T>G (p.Thr1365=) c.4092T>G (p.Thr1364=) c.4083T>G (p.Thr1361=) c.4026T>G (p.Thr1342=) c.3909T>G (p.Thr1303=) | |
3 | g.77644792T= | CA1376777949 | ROBO2 | c.4218T= (p.Thr1406=) c.4209T= (p.Thr1403=) c.4104T= (p.Thr1368=) c.4296T= (p.Thr1432=) c.*966T= (n.*966T=) c.4308T= (p.Thr1436=) c.4482T= (p.Thr1494=) c.*2456T= (n.*2456T=) c.4149T= (p.Thr1383=) c.564T= (p.Thr188=) c.4206T= (p.Thr1402=) c.4023T= (p.Thr1341=) n.6011T= c.*2467T= (n.*2467T=) c.517T= c.4071T= (p.Thr1357=) c.481T= c.3639T= (p.Thr1213=) c.4035T= (p.Thr1345=) c.2244T= (p.Thr748=) c.4686T= (p.Thr1562=) c.4560T= (p.Thr1520=) c.4503T= (p.Thr1501=) c.4230T= (p.Thr1410=) c.4617T= (p.Thr1539=) c.4551T= (p.Thr1517=) c.4491T= (p.Thr1497=) c.4377T= (p.Thr1459=) c.4356T= (p.Thr1452=) c.4221T= (p.Thr1407=) c.4161T= (p.Thr1387=) c.4095T= (p.Thr1365=) c.4092T= (p.Thr1364=) c.4083T= (p.Thr1361=) c.4026T= (p.Thr1342=) c.3909T= (p.Thr1303=) | |
3 | g.77644793G>A | CA353533518 | ROBO2 | c.4219G>A (p.Gly1407Arg) c.4210G>A (p.Gly1404Arg) c.4105G>A (p.Gly1369Arg) c.4297G>A (p.Gly1433Arg) c.*967G>A (n.*967G>A) c.4309G>A (p.Gly1437Arg) c.4483G>A (p.Gly1495Arg) c.*2457G>A (n.*2457G>A) c.4150G>A (p.Gly1384Arg) c.565G>A (p.Gly189Arg) c.4207G>A (p.Gly1403Arg) c.4024G>A (p.Gly1342Arg) n.6012G>A c.*2468G>A (n.*2468G>A) c.518G>A c.4072G>A (p.Gly1358Arg) c.482G>A c.3640G>A (p.Gly1214Arg) c.4036G>A (p.Gly1346Arg) c.2245G>A (p.Gly749Arg) c.4687G>A (p.Gly1563Arg) c.4561G>A (p.Gly1521Arg) c.4504G>A (p.Gly1502Arg) c.4231G>A (p.Gly1411Arg) c.4618G>A (p.Gly1540Arg) c.4552G>A (p.Gly1518Arg) c.4492G>A (p.Gly1498Arg) c.4378G>A (p.Gly1460Arg) c.4357G>A (p.Gly1453Arg) c.4222G>A (p.Gly1408Arg) c.4162G>A (p.Gly1388Arg) c.4096G>A (p.Gly1366Arg) c.4093G>A (p.Gly1365Arg) c.4084G>A (p.Gly1362Arg) c.4027G>A (p.Gly1343Arg) c.3910G>A (p.Gly1304Arg) | |
3 | g.77644793G>C | CA353533520 | ROBO2 | c.4219G>C (p.Gly1407Arg) c.4210G>C (p.Gly1404Arg) c.4105G>C (p.Gly1369Arg) c.4297G>C (p.Gly1433Arg) c.*967G>C (n.*967G>C) c.4309G>C (p.Gly1437Arg) c.4483G>C (p.Gly1495Arg) c.*2457G>C (n.*2457G>C) c.4150G>C (p.Gly1384Arg) c.565G>C (p.Gly189Arg) c.4207G>C (p.Gly1403Arg) c.4024G>C (p.Gly1342Arg) n.6012G>C c.*2468G>C (n.*2468G>C) c.518G>C c.4072G>C (p.Gly1358Arg) c.482G>C c.3640G>C (p.Gly1214Arg) c.4036G>C (p.Gly1346Arg) c.2245G>C (p.Gly749Arg) c.4687G>C (p.Gly1563Arg) c.4561G>C (p.Gly1521Arg) c.4504G>C (p.Gly1502Arg) c.4231G>C (p.Gly1411Arg) c.4618G>C (p.Gly1540Arg) c.4552G>C (p.Gly1518Arg) c.4492G>C (p.Gly1498Arg) c.4378G>C (p.Gly1460Arg) c.4357G>C (p.Gly1453Arg) c.4222G>C (p.Gly1408Arg) c.4162G>C (p.Gly1388Arg) c.4096G>C (p.Gly1366Arg) c.4093G>C (p.Gly1365Arg) c.4084G>C (p.Gly1362Arg) c.4027G>C (p.Gly1343Arg) c.3910G>C (p.Gly1304Arg) | |
3 | g.77644793G>T | CA353533521 | ROBO2 | c.4219G>T (p.Gly1407Ter) c.4210G>T (p.Gly1404Ter) c.4105G>T (p.Gly1369Ter) c.4297G>T (p.Gly1433Ter) c.*967G>T (n.*967G>T) c.4309G>T (p.Gly1437Ter) c.4483G>T (p.Gly1495Ter) c.*2457G>T (n.*2457G>T) c.4150G>T (p.Gly1384Ter) c.565G>T (p.Gly189Ter) c.4207G>T (p.Gly1403Ter) c.4024G>T (p.Gly1342Ter) n.6012G>T c.*2468G>T (n.*2468G>T) c.518G>T c.4072G>T (p.Gly1358Ter) c.482G>T c.3640G>T (p.Gly1214Ter) c.4036G>T (p.Gly1346Ter) c.2245G>T (p.Gly749Ter) c.4687G>T (p.Gly1563Ter) c.4561G>T (p.Gly1521Ter) c.4504G>T (p.Gly1502Ter) c.4231G>T (p.Gly1411Ter) c.4618G>T (p.Gly1540Ter) c.4552G>T (p.Gly1518Ter) c.4492G>T (p.Gly1498Ter) c.4378G>T (p.Gly1460Ter) c.4357G>T (p.Gly1453Ter) c.4222G>T (p.Gly1408Ter) c.4162G>T (p.Gly1388Ter) c.4096G>T (p.Gly1366Ter) c.4093G>T (p.Gly1365Ter) c.4084G>T (p.Gly1362Ter) c.4027G>T (p.Gly1343Ter) c.3910G>T (p.Gly1304Ter) | |
3 | g.77644794G>A | CA353533524 | ROBO2 | c.4220G>A (p.Gly1407Glu) c.4211G>A (p.Gly1404Glu) c.4106G>A (p.Gly1369Glu) c.4298G>A (p.Gly1433Glu) c.*968G>A (n.*968G>A) c.4310G>A (p.Gly1437Glu) c.4484G>A (p.Gly1495Glu) c.*2458G>A (n.*2458G>A) c.4151G>A (p.Gly1384Glu) c.566G>A (p.Gly189Glu) c.4208G>A (p.Gly1403Glu) c.4025G>A (p.Gly1342Glu) n.6013G>A c.*2469G>A (n.*2469G>A) c.519G>A c.4073G>A (p.Gly1358Glu) c.483G>A c.3641G>A (p.Gly1214Glu) c.4037G>A (p.Gly1346Glu) c.2246G>A (p.Gly749Glu) c.4688G>A (p.Gly1563Glu) c.4562G>A (p.Gly1521Glu) c.4505G>A (p.Gly1502Glu) c.4232G>A (p.Gly1411Glu) c.4619G>A (p.Gly1540Glu) c.4553G>A (p.Gly1518Glu) c.4493G>A (p.Gly1498Glu) c.4379G>A (p.Gly1460Glu) c.4358G>A (p.Gly1453Glu) c.4223G>A (p.Gly1408Glu) c.4163G>A (p.Gly1388Glu) c.4097G>A (p.Gly1366Glu) c.4094G>A (p.Gly1365Glu) c.4085G>A (p.Gly1362Glu) c.4028G>A (p.Gly1343Glu) c.3911G>A (p.Gly1304Glu) | |
3 | g.77644794G>C | CA353533526 | ROBO2 | c.4220G>C (p.Gly1407Ala) c.4211G>C (p.Gly1404Ala) c.4106G>C (p.Gly1369Ala) c.4298G>C (p.Gly1433Ala) c.*968G>C (n.*968G>C) c.4310G>C (p.Gly1437Ala) c.4484G>C (p.Gly1495Ala) c.*2458G>C (n.*2458G>C) c.4151G>C (p.Gly1384Ala) c.566G>C (p.Gly189Ala) c.4208G>C (p.Gly1403Ala) c.4025G>C (p.Gly1342Ala) n.6013G>C c.*2469G>C (n.*2469G>C) c.519G>C c.4073G>C (p.Gly1358Ala) c.483G>C c.3641G>C (p.Gly1214Ala) c.4037G>C (p.Gly1346Ala) c.2246G>C (p.Gly749Ala) c.4688G>C (p.Gly1563Ala) c.4562G>C (p.Gly1521Ala) c.4505G>C (p.Gly1502Ala) c.4232G>C (p.Gly1411Ala) c.4619G>C (p.Gly1540Ala) c.4553G>C (p.Gly1518Ala) c.4493G>C (p.Gly1498Ala) c.4379G>C (p.Gly1460Ala) c.4358G>C (p.Gly1453Ala) c.4223G>C (p.Gly1408Ala) c.4163G>C (p.Gly1388Ala) c.4097G>C (p.Gly1366Ala) c.4094G>C (p.Gly1365Ala) c.4085G>C (p.Gly1362Ala) c.4028G>C (p.Gly1343Ala) c.3911G>C (p.Gly1304Ala) | |
3 | g.77644794G>T | CA353533528 | ROBO2 | c.4220G>T (p.Gly1407Val) c.4211G>T (p.Gly1404Val) c.4106G>T (p.Gly1369Val) c.4298G>T (p.Gly1433Val) c.*968G>T (n.*968G>T) c.4310G>T (p.Gly1437Val) c.4484G>T (p.Gly1495Val) c.*2458G>T (n.*2458G>T) c.4151G>T (p.Gly1384Val) c.566G>T (p.Gly189Val) c.4208G>T (p.Gly1403Val) c.4025G>T (p.Gly1342Val) n.6013G>T c.*2469G>T (n.*2469G>T) c.519G>T c.4073G>T (p.Gly1358Val) c.483G>T c.3641G>T (p.Gly1214Val) c.4037G>T (p.Gly1346Val) c.2246G>T (p.Gly749Val) c.4688G>T (p.Gly1563Val) c.4562G>T (p.Gly1521Val) c.4505G>T (p.Gly1502Val) c.4232G>T (p.Gly1411Val) c.4619G>T (p.Gly1540Val) c.4553G>T (p.Gly1518Val) c.4493G>T (p.Gly1498Val) c.4379G>T (p.Gly1460Val) c.4358G>T (p.Gly1453Val) c.4223G>T (p.Gly1408Val) c.4163G>T (p.Gly1388Val) c.4097G>T (p.Gly1366Val) c.4094G>T (p.Gly1365Val) c.4085G>T (p.Gly1362Val) c.4028G>T (p.Gly1343Val) c.3911G>T (p.Gly1304Val) | |
3 | g.77644795A>C | CA434435289 | ROBO2 | c.4221A>C (p.Gly1407=) c.4212A>C (p.Gly1404=) c.4107A>C (p.Gly1369=) c.4299A>C (p.Gly1433=) c.*969A>C (n.*969A>C) c.4311A>C (p.Gly1437=) c.4485A>C (p.Gly1495=) c.*2459A>C (n.*2459A>C) c.4152A>C (p.Gly1384=) c.567A>C (p.Gly189=) c.4209A>C (p.Gly1403=) c.4026A>C (p.Gly1342=) n.6014A>C c.*2470A>C (n.*2470A>C) c.520A>C c.4074A>C (p.Gly1358=) c.484A>C c.3642A>C (p.Gly1214=) c.4038A>C (p.Gly1346=) c.2247A>C (p.Gly749=) c.4689A>C (p.Gly1563=) c.4563A>C (p.Gly1521=) c.4506A>C (p.Gly1502=) c.4233A>C (p.Gly1411=) c.4620A>C (p.Gly1540=) c.4554A>C (p.Gly1518=) c.4494A>C (p.Gly1498=) c.4380A>C (p.Gly1460=) c.4359A>C (p.Gly1453=) c.4224A>C (p.Gly1408=) c.4164A>C (p.Gly1388=) c.4098A>C (p.Gly1366=) c.4095A>C (p.Gly1365=) c.4086A>C (p.Gly1362=) c.4029A>C (p.Gly1343=) c.3912A>C (p.Gly1304=) | gnomAD v4 |
3 | g.77644795A>G | CA434435290 | ROBO2 | c.4221A>G (p.Gly1407=) c.4212A>G (p.Gly1404=) c.4107A>G (p.Gly1369=) c.4299A>G (p.Gly1433=) c.*969A>G (n.*969A>G) c.4311A>G (p.Gly1437=) c.4485A>G (p.Gly1495=) c.*2459A>G (n.*2459A>G) c.4152A>G (p.Gly1384=) c.567A>G (p.Gly189=) c.4209A>G (p.Gly1403=) c.4026A>G (p.Gly1342=) n.6014A>G c.*2470A>G (n.*2470A>G) c.520A>G c.4074A>G (p.Gly1358=) c.484A>G c.3642A>G (p.Gly1214=) c.4038A>G (p.Gly1346=) c.2247A>G (p.Gly749=) c.4689A>G (p.Gly1563=) c.4563A>G (p.Gly1521=) c.4506A>G (p.Gly1502=) c.4233A>G (p.Gly1411=) c.4620A>G (p.Gly1540=) c.4554A>G (p.Gly1518=) c.4494A>G (p.Gly1498=) c.4380A>G (p.Gly1460=) c.4359A>G (p.Gly1453=) c.4224A>G (p.Gly1408=) c.4164A>G (p.Gly1388=) c.4098A>G (p.Gly1366=) c.4095A>G (p.Gly1365=) c.4086A>G (p.Gly1362=) c.4029A>G (p.Gly1343=) c.3912A>G (p.Gly1304=) | gnomAD v4 |
3 | g.77644795A>T | CA434435291 | ROBO2 | c.4221A>T (p.Gly1407=) c.4212A>T (p.Gly1404=) c.4107A>T (p.Gly1369=) c.4299A>T (p.Gly1433=) c.*969A>T (n.*969A>T) c.4311A>T (p.Gly1437=) c.4485A>T (p.Gly1495=) c.*2459A>T (n.*2459A>T) c.4152A>T (p.Gly1384=) c.567A>T (p.Gly189=) c.4209A>T (p.Gly1403=) c.4026A>T (p.Gly1342=) n.6014A>T c.*2470A>T (n.*2470A>T) c.520A>T c.4074A>T (p.Gly1358=) c.484A>T c.3642A>T (p.Gly1214=) c.4038A>T (p.Gly1346=) c.2247A>T (p.Gly749=) c.4689A>T (p.Gly1563=) c.4563A>T (p.Gly1521=) c.4506A>T (p.Gly1502=) c.4233A>T (p.Gly1411=) c.4620A>T (p.Gly1540=) c.4554A>T (p.Gly1518=) c.4494A>T (p.Gly1498=) c.4380A>T (p.Gly1460=) c.4359A>T (p.Gly1453=) c.4224A>T (p.Gly1408=) c.4164A>T (p.Gly1388=) c.4098A>T (p.Gly1366=) c.4095A>T (p.Gly1365=) c.4086A>T (p.Gly1362=) c.4029A>T (p.Gly1343=) c.3912A>T (p.Gly1304=) | |
3 | g.77644796C>A | CA353533531 | ROBO2 | c.4222C>A (p.Pro1408Thr) c.4213C>A (p.Pro1405Thr) c.4108C>A (p.Pro1370Thr) c.4300C>A (p.Pro1434Thr) c.*970C>A (n.*970C>A) c.4312C>A (p.Pro1438Thr) c.4486C>A (p.Pro1496Thr) c.*2460C>A (n.*2460C>A) c.4153C>A (p.Pro1385Thr) c.568C>A (p.Pro190Thr) c.4210C>A (p.Pro1404Thr) c.4027C>A (p.Pro1343Thr) n.6015C>A c.*2471C>A (n.*2471C>A) c.521C>A c.4075C>A (p.Pro1359Thr) c.485C>A c.3643C>A (p.Pro1215Thr) c.4039C>A (p.Pro1347Thr) c.2248C>A (p.Pro750Thr) c.4690C>A (p.Pro1564Thr) c.4564C>A (p.Pro1522Thr) c.4507C>A (p.Pro1503Thr) c.4234C>A (p.Pro1412Thr) c.4621C>A (p.Pro1541Thr) c.4555C>A (p.Pro1519Thr) c.4495C>A (p.Pro1499Thr) c.4381C>A (p.Pro1461Thr) c.4360C>A (p.Pro1454Thr) c.4225C>A (p.Pro1409Thr) c.4165C>A (p.Pro1389Thr) c.4099C>A (p.Pro1367Thr) c.4096C>A (p.Pro1366Thr) c.4087C>A (p.Pro1363Thr) c.4030C>A (p.Pro1344Thr) c.3913C>A (p.Pro1305Thr) | |
3 | g.77644796C>G | CA353533532 | ROBO2 | c.4222C>G (p.Pro1408Ala) c.4213C>G (p.Pro1405Ala) c.4108C>G (p.Pro1370Ala) c.4300C>G (p.Pro1434Ala) c.*970C>G (n.*970C>G) c.4312C>G (p.Pro1438Ala) c.4486C>G (p.Pro1496Ala) c.*2460C>G (n.*2460C>G) c.4153C>G (p.Pro1385Ala) c.568C>G (p.Pro190Ala) c.4210C>G (p.Pro1404Ala) c.4027C>G (p.Pro1343Ala) n.6015C>G c.*2471C>G (n.*2471C>G) c.521C>G c.4075C>G (p.Pro1359Ala) c.485C>G c.3643C>G (p.Pro1215Ala) c.4039C>G (p.Pro1347Ala) c.2248C>G (p.Pro750Ala) c.4690C>G (p.Pro1564Ala) c.4564C>G (p.Pro1522Ala) c.4507C>G (p.Pro1503Ala) c.4234C>G (p.Pro1412Ala) c.4621C>G (p.Pro1541Ala) c.4555C>G (p.Pro1519Ala) c.4495C>G (p.Pro1499Ala) c.4381C>G (p.Pro1461Ala) c.4360C>G (p.Pro1454Ala) c.4225C>G (p.Pro1409Ala) c.4165C>G (p.Pro1389Ala) c.4099C>G (p.Pro1367Ala) c.4096C>G (p.Pro1366Ala) c.4087C>G (p.Pro1363Ala) c.4030C>G (p.Pro1344Ala) c.3913C>G (p.Pro1305Ala) | |
3 | g.77644796C>T | CA353533534 | ROBO2 | c.4222C>T (p.Pro1408Ser) c.4213C>T (p.Pro1405Ser) c.4108C>T (p.Pro1370Ser) c.4300C>T (p.Pro1434Ser) c.*970C>T (n.*970C>T) c.4312C>T (p.Pro1438Ser) c.4486C>T (p.Pro1496Ser) c.*2460C>T (n.*2460C>T) c.4153C>T (p.Pro1385Ser) c.568C>T (p.Pro190Ser) c.4210C>T (p.Pro1404Ser) c.4027C>T (p.Pro1343Ser) n.6015C>T c.*2471C>T (n.*2471C>T) c.521C>T c.4075C>T (p.Pro1359Ser) c.485C>T c.3643C>T (p.Pro1215Ser) c.4039C>T (p.Pro1347Ser) c.2248C>T (p.Pro750Ser) c.4690C>T (p.Pro1564Ser) c.4564C>T (p.Pro1522Ser) c.4507C>T (p.Pro1503Ser) c.4234C>T (p.Pro1412Ser) c.4621C>T (p.Pro1541Ser) c.4555C>T (p.Pro1519Ser) c.4495C>T (p.Pro1499Ser) c.4381C>T (p.Pro1461Ser) c.4360C>T (p.Pro1454Ser) c.4225C>T (p.Pro1409Ser) c.4165C>T (p.Pro1389Ser) c.4099C>T (p.Pro1367Ser) c.4096C>T (p.Pro1366Ser) c.4087C>T (p.Pro1363Ser) c.4030C>T (p.Pro1344Ser) c.3913C>T (p.Pro1305Ser) | gnomAD v4 |
3 | g.77644797C>A | CA353533541 | ROBO2 | c.4223C>A (p.Pro1408His) c.4214C>A (p.Pro1405His) c.4109C>A (p.Pro1370His) c.4301C>A (p.Pro1434His) c.*971C>A (n.*971C>A) c.4313C>A (p.Pro1438His) c.4487C>A (p.Pro1496His) c.*2461C>A (n.*2461C>A) c.4154C>A (p.Pro1385His) c.569C>A (p.Pro190His) c.4211C>A (p.Pro1404His) c.4028C>A (p.Pro1343His) n.6016C>A c.*2472C>A (n.*2472C>A) c.522C>A c.4076C>A (p.Pro1359His) c.486C>A c.3644C>A (p.Pro1215His) c.4040C>A (p.Pro1347His) c.2249C>A (p.Pro750His) c.4691C>A (p.Pro1564His) c.4565C>A (p.Pro1522His) c.4508C>A (p.Pro1503His) c.4235C>A (p.Pro1412His) c.4622C>A (p.Pro1541His) c.4556C>A (p.Pro1519His) c.4496C>A (p.Pro1499His) c.4382C>A (p.Pro1461His) c.4361C>A (p.Pro1454His) c.4226C>A (p.Pro1409His) c.4166C>A (p.Pro1389His) c.4100C>A (p.Pro1367His) c.4097C>A (p.Pro1366His) c.4088C>A (p.Pro1363His) c.4031C>A (p.Pro1344His) c.3914C>A (p.Pro1305His) | |
3 | g.77644797C>G | CA353533539 | ROBO2 | c.4223C>G (p.Pro1408Arg) c.4214C>G (p.Pro1405Arg) c.4109C>G (p.Pro1370Arg) c.4301C>G (p.Pro1434Arg) c.*971C>G (n.*971C>G) c.4313C>G (p.Pro1438Arg) c.4487C>G (p.Pro1496Arg) c.*2461C>G (n.*2461C>G) c.4154C>G (p.Pro1385Arg) c.569C>G (p.Pro190Arg) c.4211C>G (p.Pro1404Arg) c.4028C>G (p.Pro1343Arg) n.6016C>G c.*2472C>G (n.*2472C>G) c.522C>G c.4076C>G (p.Pro1359Arg) c.486C>G c.3644C>G (p.Pro1215Arg) c.4040C>G (p.Pro1347Arg) c.2249C>G (p.Pro750Arg) c.4691C>G (p.Pro1564Arg) c.4565C>G (p.Pro1522Arg) c.4508C>G (p.Pro1503Arg) c.4235C>G (p.Pro1412Arg) c.4622C>G (p.Pro1541Arg) c.4556C>G (p.Pro1519Arg) c.4496C>G (p.Pro1499Arg) c.4382C>G (p.Pro1461Arg) c.4361C>G (p.Pro1454Arg) c.4226C>G (p.Pro1409Arg) c.4166C>G (p.Pro1389Arg) c.4100C>G (p.Pro1367Arg) c.4097C>G (p.Pro1366Arg) c.4088C>G (p.Pro1363Arg) c.4031C>G (p.Pro1344Arg) c.3914C>G (p.Pro1305Arg) | |
3 | g.77644797C>T | CA353533537 | ROBO2 | c.4223C>T (p.Pro1408Leu) c.4214C>T (p.Pro1405Leu) c.4109C>T (p.Pro1370Leu) c.4301C>T (p.Pro1434Leu) c.*971C>T (n.*971C>T) c.4313C>T (p.Pro1438Leu) c.4487C>T (p.Pro1496Leu) c.*2461C>T (n.*2461C>T) c.4154C>T (p.Pro1385Leu) c.569C>T (p.Pro190Leu) c.4211C>T (p.Pro1404Leu) c.4028C>T (p.Pro1343Leu) n.6016C>T c.*2472C>T (n.*2472C>T) c.522C>T c.4076C>T (p.Pro1359Leu) c.486C>T c.3644C>T (p.Pro1215Leu) c.4040C>T (p.Pro1347Leu) c.2249C>T (p.Pro750Leu) c.4691C>T (p.Pro1564Leu) c.4565C>T (p.Pro1522Leu) c.4508C>T (p.Pro1503Leu) c.4235C>T (p.Pro1412Leu) c.4622C>T (p.Pro1541Leu) c.4556C>T (p.Pro1519Leu) c.4496C>T (p.Pro1499Leu) c.4382C>T (p.Pro1461Leu) c.4361C>T (p.Pro1454Leu) c.4226C>T (p.Pro1409Leu) c.4166C>T (p.Pro1389Leu) c.4100C>T (p.Pro1367Leu) c.4097C>T (p.Pro1366Leu) c.4088C>T (p.Pro1363Leu) c.4031C>T (p.Pro1344Leu) c.3914C>T (p.Pro1305Leu) | |
3 | g.77644798T>A | CA434435295 | ROBO2 | c.4224T>A (p.Pro1408=) c.4215T>A (p.Pro1405=) c.4110T>A (p.Pro1370=) c.4302T>A (p.Pro1434=) c.*972T>A (n.*972T>A) c.4314T>A (p.Pro1438=) c.4488T>A (p.Pro1496=) c.*2462T>A (n.*2462T>A) c.4155T>A (p.Pro1385=) c.570T>A (p.Pro190=) c.4212T>A (p.Pro1404=) c.4029T>A (p.Pro1343=) n.6017T>A c.*2473T>A (n.*2473T>A) c.523T>A c.4077T>A (p.Pro1359=) c.487T>A c.3645T>A (p.Pro1215=) c.4041T>A (p.Pro1347=) c.2250T>A (p.Pro750=) c.4692T>A (p.Pro1564=) c.4566T>A (p.Pro1522=) c.4509T>A (p.Pro1503=) c.4236T>A (p.Pro1412=) c.4623T>A (p.Pro1541=) c.4557T>A (p.Pro1519=) c.4497T>A (p.Pro1499=) c.4383T>A (p.Pro1461=) c.4362T>A (p.Pro1454=) c.4227T>A (p.Pro1409=) c.4167T>A (p.Pro1389=) c.4101T>A (p.Pro1367=) c.4098T>A (p.Pro1366=) c.4089T>A (p.Pro1363=) c.4032T>A (p.Pro1344=) c.3915T>A (p.Pro1305=) | |
3 | g.77644798T>C | CA434435297 | ROBO2 | c.4224T>C (p.Pro1408=) c.4215T>C (p.Pro1405=) c.4110T>C (p.Pro1370=) c.4302T>C (p.Pro1434=) c.*972T>C (n.*972T>C) c.4314T>C (p.Pro1438=) c.4488T>C (p.Pro1496=) c.*2462T>C (n.*2462T>C) c.4155T>C (p.Pro1385=) c.570T>C (p.Pro190=) c.4212T>C (p.Pro1404=) c.4029T>C (p.Pro1343=) n.6017T>C c.*2473T>C (n.*2473T>C) c.523T>C c.4077T>C (p.Pro1359=) c.487T>C c.3645T>C (p.Pro1215=) c.4041T>C (p.Pro1347=) c.2250T>C (p.Pro750=) c.4692T>C (p.Pro1564=) c.4566T>C (p.Pro1522=) c.4509T>C (p.Pro1503=) c.4236T>C (p.Pro1412=) c.4623T>C (p.Pro1541=) c.4557T>C (p.Pro1519=) c.4497T>C (p.Pro1499=) c.4383T>C (p.Pro1461=) c.4362T>C (p.Pro1454=) c.4227T>C (p.Pro1409=) c.4167T>C (p.Pro1389=) c.4101T>C (p.Pro1367=) c.4098T>C (p.Pro1366=) c.4089T>C (p.Pro1363=) c.4032T>C (p.Pro1344=) c.3915T>C (p.Pro1305=) | |
3 | g.77644798T>G | CA434435299 | ROBO2 | c.4224T>G (p.Pro1408=) c.4215T>G (p.Pro1405=) c.4110T>G (p.Pro1370=) c.4302T>G (p.Pro1434=) c.*972T>G (n.*972T>G) c.4314T>G (p.Pro1438=) c.4488T>G (p.Pro1496=) c.*2462T>G (n.*2462T>G) c.4155T>G (p.Pro1385=) c.570T>G (p.Pro190=) c.4212T>G (p.Pro1404=) c.4029T>G (p.Pro1343=) n.6017T>G c.*2473T>G (n.*2473T>G) c.523T>G c.4077T>G (p.Pro1359=) c.487T>G c.3645T>G (p.Pro1215=) c.4041T>G (p.Pro1347=) c.2250T>G (p.Pro750=) c.4692T>G (p.Pro1564=) c.4566T>G (p.Pro1522=) c.4509T>G (p.Pro1503=) c.4236T>G (p.Pro1412=) c.4623T>G (p.Pro1541=) c.4557T>G (p.Pro1519=) c.4497T>G (p.Pro1499=) c.4383T>G (p.Pro1461=) c.4362T>G (p.Pro1454=) c.4227T>G (p.Pro1409=) c.4167T>G (p.Pro1389=) c.4101T>G (p.Pro1367=) c.4098T>G (p.Pro1366=) c.4089T>G (p.Pro1363=) c.4032T>G (p.Pro1344=) c.3915T>G (p.Pro1305=) | gnomAD v4 |
3 | g.77644799A>C | CA434435300 | ROBO2 | c.4225A>C (p.Arg1409=) c.4216A>C (p.Arg1406=) c.4111A>C (p.Arg1371=) c.4303A>C (p.Arg1435=) c.*973A>C (n.*973A>C) c.4315A>C (p.Arg1439=) c.4489A>C (p.Arg1497=) c.*2463A>C (n.*2463A>C) c.4156A>C (p.Arg1386=) c.571A>C (p.Arg191=) c.4213A>C (p.Arg1405=) c.4030A>C (p.Arg1344=) n.6018A>C c.*2474A>C (n.*2474A>C) c.524A>C c.4078A>C (p.Arg1360=) c.488A>C c.3646A>C (p.Arg1216=) c.4042A>C (p.Arg1348=) c.2251A>C (p.Arg751=) c.4693A>C (p.Arg1565=) c.4567A>C (p.Arg1523=) c.4510A>C (p.Arg1504=) c.4237A>C (p.Arg1413=) c.4624A>C (p.Arg1542=) c.4558A>C (p.Arg1520=) c.4498A>C (p.Arg1500=) c.4384A>C (p.Arg1462=) c.4363A>C (p.Arg1455=) c.4228A>C (p.Arg1410=) c.4168A>C (p.Arg1390=) c.4102A>C (p.Arg1368=) c.4099A>C (p.Arg1367=) c.4090A>C (p.Arg1364=) c.4033A>C (p.Arg1345=) c.3916A>C (p.Arg1306=) | |
3 | g.77644799A>G | CA353533543 | ROBO2 | c.4225A>G (p.Arg1409Gly) c.4216A>G (p.Arg1406Gly) c.4111A>G (p.Arg1371Gly) c.4303A>G (p.Arg1435Gly) c.*973A>G (n.*973A>G) c.4315A>G (p.Arg1439Gly) c.4489A>G (p.Arg1497Gly) c.*2463A>G (n.*2463A>G) c.4156A>G (p.Arg1386Gly) c.571A>G (p.Arg191Gly) c.4213A>G (p.Arg1405Gly) c.4030A>G (p.Arg1344Gly) n.6018A>G c.*2474A>G (n.*2474A>G) c.524A>G c.4078A>G (p.Arg1360Gly) c.488A>G c.3646A>G (p.Arg1216Gly) c.4042A>G (p.Arg1348Gly) c.2251A>G (p.Arg751Gly) c.4693A>G (p.Arg1565Gly) c.4567A>G (p.Arg1523Gly) c.4510A>G (p.Arg1504Gly) c.4237A>G (p.Arg1413Gly) c.4624A>G (p.Arg1542Gly) c.4558A>G (p.Arg1520Gly) c.4498A>G (p.Arg1500Gly) c.4384A>G (p.Arg1462Gly) c.4363A>G (p.Arg1455Gly) c.4228A>G (p.Arg1410Gly) c.4168A>G (p.Arg1390Gly) c.4102A>G (p.Arg1368Gly) c.4099A>G (p.Arg1367Gly) c.4090A>G (p.Arg1364Gly) c.4033A>G (p.Arg1345Gly) c.3916A>G (p.Arg1306Gly) | |
3 | g.77644799A>T | CA353533544 | ROBO2 | c.4225A>T (p.Arg1409Trp) c.4216A>T (p.Arg1406Trp) c.4111A>T (p.Arg1371Trp) c.4303A>T (p.Arg1435Trp) c.*973A>T (n.*973A>T) c.4315A>T (p.Arg1439Trp) c.4489A>T (p.Arg1497Trp) c.*2463A>T (n.*2463A>T) c.4156A>T (p.Arg1386Trp) c.571A>T (p.Arg191Trp) c.4213A>T (p.Arg1405Trp) c.4030A>T (p.Arg1344Trp) n.6018A>T c.*2474A>T (n.*2474A>T) c.524A>T c.4078A>T (p.Arg1360Trp) c.488A>T c.3646A>T (p.Arg1216Trp) c.4042A>T (p.Arg1348Trp) c.2251A>T (p.Arg751Trp) c.4693A>T (p.Arg1565Trp) c.4567A>T (p.Arg1523Trp) c.4510A>T (p.Arg1504Trp) c.4237A>T (p.Arg1413Trp) c.4624A>T (p.Arg1542Trp) c.4558A>T (p.Arg1520Trp) c.4498A>T (p.Arg1500Trp) c.4384A>T (p.Arg1462Trp) c.4363A>T (p.Arg1455Trp) c.4228A>T (p.Arg1410Trp) c.4168A>T (p.Arg1390Trp) c.4102A>T (p.Arg1368Trp) c.4099A>T (p.Arg1367Trp) c.4090A>T (p.Arg1364Trp) c.4033A>T (p.Arg1345Trp) c.3916A>T (p.Arg1306Trp) | |
3 | g.77644800G>A | CA353533547 | ROBO2 | c.4226G>A (p.Arg1409Lys) c.4217G>A (p.Arg1406Lys) c.4112G>A (p.Arg1371Lys) c.4304G>A (p.Arg1435Lys) c.*974G>A (n.*974G>A) c.4316G>A (p.Arg1439Lys) c.4490G>A (p.Arg1497Lys) c.*2464G>A (n.*2464G>A) c.4157G>A (p.Arg1386Lys) c.572G>A (p.Arg191Lys) c.4214G>A (p.Arg1405Lys) c.4031G>A (p.Arg1344Lys) n.6019G>A c.*2475G>A (n.*2475G>A) c.525G>A c.4079G>A (p.Arg1360Lys) c.489G>A c.3647G>A (p.Arg1216Lys) c.4043G>A (p.Arg1348Lys) c.2252G>A (p.Arg751Lys) c.4694G>A (p.Arg1565Lys) c.4568G>A (p.Arg1523Lys) c.4511G>A (p.Arg1504Lys) c.4238G>A (p.Arg1413Lys) c.4625G>A (p.Arg1542Lys) c.4559G>A (p.Arg1520Lys) c.4499G>A (p.Arg1500Lys) c.4385G>A (p.Arg1462Lys) c.4364G>A (p.Arg1455Lys) c.4229G>A (p.Arg1410Lys) c.4169G>A (p.Arg1390Lys) c.4103G>A (p.Arg1368Lys) c.4100G>A (p.Arg1367Lys) c.4091G>A (p.Arg1364Lys) c.4034G>A (p.Arg1345Lys) c.3917G>A (p.Arg1306Lys) | |
3 | g.77644800G>C | CA353533549 | ROBO2 | c.4226G>C (p.Arg1409Thr) c.4217G>C (p.Arg1406Thr) c.4112G>C (p.Arg1371Thr) c.4304G>C (p.Arg1435Thr) c.*974G>C (n.*974G>C) c.4316G>C (p.Arg1439Thr) c.4490G>C (p.Arg1497Thr) c.*2464G>C (n.*2464G>C) c.4157G>C (p.Arg1386Thr) c.572G>C (p.Arg191Thr) c.4214G>C (p.Arg1405Thr) c.4031G>C (p.Arg1344Thr) n.6019G>C c.*2475G>C (n.*2475G>C) c.525G>C c.4079G>C (p.Arg1360Thr) c.489G>C c.3647G>C (p.Arg1216Thr) c.4043G>C (p.Arg1348Thr) c.2252G>C (p.Arg751Thr) c.4694G>C (p.Arg1565Thr) c.4568G>C (p.Arg1523Thr) c.4511G>C (p.Arg1504Thr) c.4238G>C (p.Arg1413Thr) c.4625G>C (p.Arg1542Thr) c.4559G>C (p.Arg1520Thr) c.4499G>C (p.Arg1500Thr) c.4385G>C (p.Arg1462Thr) c.4364G>C (p.Arg1455Thr) c.4229G>C (p.Arg1410Thr) c.4169G>C (p.Arg1390Thr) c.4103G>C (p.Arg1368Thr) c.4100G>C (p.Arg1367Thr) c.4091G>C (p.Arg1364Thr) c.4034G>C (p.Arg1345Thr) c.3917G>C (p.Arg1306Thr) | gnomAD v4 |
3 | g.77644800G>T | CA353533550 | ROBO2 | c.4226G>T (p.Arg1409Met) c.4217G>T (p.Arg1406Met) c.4112G>T (p.Arg1371Met) c.4304G>T (p.Arg1435Met) c.*974G>T (n.*974G>T) c.4316G>T (p.Arg1439Met) c.4490G>T (p.Arg1497Met) c.*2464G>T (n.*2464G>T) c.4157G>T (p.Arg1386Met) c.572G>T (p.Arg191Met) c.4214G>T (p.Arg1405Met) c.4031G>T (p.Arg1344Met) n.6019G>T c.*2475G>T (n.*2475G>T) c.525G>T c.4079G>T (p.Arg1360Met) c.489G>T c.3647G>T (p.Arg1216Met) c.4043G>T (p.Arg1348Met) c.2252G>T (p.Arg751Met) c.4694G>T (p.Arg1565Met) c.4568G>T (p.Arg1523Met) c.4511G>T (p.Arg1504Met) c.4238G>T (p.Arg1413Met) c.4625G>T (p.Arg1542Met) c.4559G>T (p.Arg1520Met) c.4499G>T (p.Arg1500Met) c.4385G>T (p.Arg1462Met) c.4364G>T (p.Arg1455Met) c.4229G>T (p.Arg1410Met) c.4169G>T (p.Arg1390Met) c.4103G>T (p.Arg1368Met) c.4100G>T (p.Arg1367Met) c.4091G>T (p.Arg1364Met) c.4034G>T (p.Arg1345Met) c.3917G>T (p.Arg1306Met) | |
3 | g.77644801G>A | CA434435304 | ROBO2 | c.4227G>A (p.Arg1409=) c.4218G>A (p.Arg1406=) c.4113G>A (p.Arg1371=) c.4305G>A (p.Arg1435=) c.*975G>A (n.*975G>A) c.4317G>A (p.Arg1439=) c.4491G>A (p.Arg1497=) c.*2465G>A (n.*2465G>A) c.4158G>A (p.Arg1386=) c.573G>A (p.Arg191=) c.4215G>A (p.Arg1405=) c.4032G>A (p.Arg1344=) n.6020G>A c.*2476G>A (n.*2476G>A) c.526G>A c.4080G>A (p.Arg1360=) c.490G>A c.3648G>A (p.Arg1216=) c.4044G>A (p.Arg1348=) c.2253G>A (p.Arg751=) c.4695G>A (p.Arg1565=) c.4569G>A (p.Arg1523=) c.4512G>A (p.Arg1504=) c.4239G>A (p.Arg1413=) c.4626G>A (p.Arg1542=) c.4560G>A (p.Arg1520=) c.4500G>A (p.Arg1500=) c.4386G>A (p.Arg1462=) c.4365G>A (p.Arg1455=) c.4230G>A (p.Arg1410=) c.4170G>A (p.Arg1390=) c.4104G>A (p.Arg1368=) c.4101G>A (p.Arg1367=) c.4092G>A (p.Arg1364=) c.4035G>A (p.Arg1345=) c.3918G>A (p.Arg1306=) | dbSNP |
3 | g.77644801G>C | CA353533552 | ROBO2 | c.4227G>C (p.Arg1409Ser) c.4218G>C (p.Arg1406Ser) c.4113G>C (p.Arg1371Ser) c.4305G>C (p.Arg1435Ser) c.*975G>C (n.*975G>C) c.4317G>C (p.Arg1439Ser) c.4491G>C (p.Arg1497Ser) c.*2465G>C (n.*2465G>C) c.4158G>C (p.Arg1386Ser) c.573G>C (p.Arg191Ser) c.4215G>C (p.Arg1405Ser) c.4032G>C (p.Arg1344Ser) n.6020G>C c.*2476G>C (n.*2476G>C) c.526G>C c.4080G>C (p.Arg1360Ser) c.490G>C c.3648G>C (p.Arg1216Ser) c.4044G>C (p.Arg1348Ser) c.2253G>C (p.Arg751Ser) c.4695G>C (p.Arg1565Ser) c.4569G>C (p.Arg1523Ser) c.4512G>C (p.Arg1504Ser) c.4239G>C (p.Arg1413Ser) c.4626G>C (p.Arg1542Ser) c.4560G>C (p.Arg1520Ser) c.4500G>C (p.Arg1500Ser) c.4386G>C (p.Arg1462Ser) c.4365G>C (p.Arg1455Ser) c.4230G>C (p.Arg1410Ser) c.4170G>C (p.Arg1390Ser) c.4104G>C (p.Arg1368Ser) c.4101G>C (p.Arg1367Ser) c.4092G>C (p.Arg1364Ser) c.4035G>C (p.Arg1345Ser) c.3918G>C (p.Arg1306Ser) | |
3 | g.77644801G= | CA1376777950 | ROBO2 | c.4227G= (p.Arg1409=) c.4218G= (p.Arg1406=) c.4113G= (p.Arg1371=) c.4305G= (p.Arg1435=) c.*975G= (n.*975G=) c.4317G= (p.Arg1439=) c.4491G= (p.Arg1497=) c.*2465G= (n.*2465G=) c.4158G= (p.Arg1386=) c.573G= (p.Arg191=) c.4215G= (p.Arg1405=) c.4032G= (p.Arg1344=) n.6020G= c.*2476G= (n.*2476G=) c.526G= c.4080G= (p.Arg1360=) c.490G= c.3648G= (p.Arg1216=) c.4044G= (p.Arg1348=) c.2253G= (p.Arg751=) c.4695G= (p.Arg1565=) c.4569G= (p.Arg1523=) c.4512G= (p.Arg1504=) c.4239G= (p.Arg1413=) c.4626G= (p.Arg1542=) c.4560G= (p.Arg1520=) c.4500G= (p.Arg1500=) c.4386G= (p.Arg1462=) c.4365G= (p.Arg1455=) c.4230G= (p.Arg1410=) c.4170G= (p.Arg1390=) c.4104G= (p.Arg1368=) c.4101G= (p.Arg1367=) c.4092G= (p.Arg1364=) c.4035G= (p.Arg1345=) c.3918G= (p.Arg1306=) | |
3 | g.77644801G>T | CA353533554 | ROBO2 | c.4227G>T (p.Arg1409Ser) c.4218G>T (p.Arg1406Ser) c.4113G>T (p.Arg1371Ser) c.4305G>T (p.Arg1435Ser) c.*975G>T (n.*975G>T) c.4317G>T (p.Arg1439Ser) c.4491G>T (p.Arg1497Ser) c.*2465G>T (n.*2465G>T) c.4158G>T (p.Arg1386Ser) c.573G>T (p.Arg191Ser) c.4215G>T (p.Arg1405Ser) c.4032G>T (p.Arg1344Ser) n.6020G>T c.*2476G>T (n.*2476G>T) c.526G>T c.4080G>T (p.Arg1360Ser) c.490G>T c.3648G>T (p.Arg1216Ser) c.4044G>T (p.Arg1348Ser) c.2253G>T (p.Arg751Ser) c.4695G>T (p.Arg1565Ser) c.4569G>T (p.Arg1523Ser) c.4512G>T (p.Arg1504Ser) c.4239G>T (p.Arg1413Ser) c.4626G>T (p.Arg1542Ser) c.4560G>T (p.Arg1520Ser) c.4500G>T (p.Arg1500Ser) c.4386G>T (p.Arg1462Ser) c.4365G>T (p.Arg1455Ser) c.4230G>T (p.Arg1410Ser) c.4170G>T (p.Arg1390Ser) c.4104G>T (p.Arg1368Ser) c.4101G>T (p.Arg1367Ser) c.4092G>T (p.Arg1364Ser) c.4035G>T (p.Arg1345Ser) c.3918G>T (p.Arg1306Ser) | |
3 | g.77644802A>C | CA353533556 | ROBO2 | c.4228A>C (p.Lys1410Gln) c.4219A>C (p.Lys1407Gln) c.4114A>C (p.Lys1372Gln) c.4306A>C (p.Lys1436Gln) c.*976A>C (n.*976A>C) c.4318A>C (p.Lys1440Gln) c.4492A>C (p.Lys1498Gln) c.*2466A>C (n.*2466A>C) c.4159A>C (p.Lys1387Gln) c.574A>C (p.Lys192Gln) c.4216A>C (p.Lys1406Gln) c.4033A>C (p.Lys1345Gln) n.6021A>C c.*2477A>C (n.*2477A>C) c.527A>C c.4081A>C (p.Lys1361Gln) c.491A>C c.3649A>C (p.Lys1217Gln) c.4045A>C (p.Lys1349Gln) c.2254A>C (p.Lys752Gln) c.4696A>C (p.Lys1566Gln) c.4570A>C (p.Lys1524Gln) c.4513A>C (p.Lys1505Gln) c.4240A>C (p.Lys1414Gln) c.4627A>C (p.Lys1543Gln) c.4561A>C (p.Lys1521Gln) c.4501A>C (p.Lys1501Gln) c.4387A>C (p.Lys1463Gln) c.4366A>C (p.Lys1456Gln) c.4231A>C (p.Lys1411Gln) c.4171A>C (p.Lys1391Gln) c.4105A>C (p.Lys1369Gln) c.4102A>C (p.Lys1368Gln) c.4093A>C (p.Lys1365Gln) c.4036A>C (p.Lys1346Gln) c.3919A>C (p.Lys1307Gln) | |
3 | g.77644802A>G | CA353533558 | ROBO2 | c.4228A>G (p.Lys1410Glu) c.4219A>G (p.Lys1407Glu) c.4114A>G (p.Lys1372Glu) c.4306A>G (p.Lys1436Glu) c.*976A>G (n.*976A>G) c.4318A>G (p.Lys1440Glu) c.4492A>G (p.Lys1498Glu) c.*2466A>G (n.*2466A>G) c.4159A>G (p.Lys1387Glu) c.574A>G (p.Lys192Glu) c.4216A>G (p.Lys1406Glu) c.4033A>G (p.Lys1345Glu) n.6021A>G c.*2477A>G (n.*2477A>G) c.527A>G c.4081A>G (p.Lys1361Glu) c.491A>G c.3649A>G (p.Lys1217Glu) c.4045A>G (p.Lys1349Glu) c.2254A>G (p.Lys752Glu) c.4696A>G (p.Lys1566Glu) c.4570A>G (p.Lys1524Glu) c.4513A>G (p.Lys1505Glu) c.4240A>G (p.Lys1414Glu) c.4627A>G (p.Lys1543Glu) c.4561A>G (p.Lys1521Glu) c.4501A>G (p.Lys1501Glu) c.4387A>G (p.Lys1463Glu) c.4366A>G (p.Lys1456Glu) c.4231A>G (p.Lys1411Glu) c.4171A>G (p.Lys1391Glu) c.4105A>G (p.Lys1369Glu) c.4102A>G (p.Lys1368Glu) c.4093A>G (p.Lys1365Glu) c.4036A>G (p.Lys1346Glu) c.3919A>G (p.Lys1307Glu) | gnomAD v4 |
3 | g.77644802A>T | CA353533560 | ROBO2 | c.4228A>T (p.Lys1410Ter) c.4219A>T (p.Lys1407Ter) c.4114A>T (p.Lys1372Ter) c.4306A>T (p.Lys1436Ter) c.*976A>T (n.*976A>T) c.4318A>T (p.Lys1440Ter) c.4492A>T (p.Lys1498Ter) c.*2466A>T (n.*2466A>T) c.4159A>T (p.Lys1387Ter) c.574A>T (p.Lys192Ter) c.4216A>T (p.Lys1406Ter) c.4033A>T (p.Lys1345Ter) n.6021A>T c.*2477A>T (n.*2477A>T) c.527A>T c.4081A>T (p.Lys1361Ter) c.491A>T c.3649A>T (p.Lys1217Ter) c.4045A>T (p.Lys1349Ter) c.2254A>T (p.Lys752Ter) c.4696A>T (p.Lys1566Ter) c.4570A>T (p.Lys1524Ter) c.4513A>T (p.Lys1505Ter) c.4240A>T (p.Lys1414Ter) c.4627A>T (p.Lys1543Ter) c.4561A>T (p.Lys1521Ter) c.4501A>T (p.Lys1501Ter) c.4387A>T (p.Lys1463Ter) c.4366A>T (p.Lys1456Ter) c.4231A>T (p.Lys1411Ter) c.4171A>T (p.Lys1391Ter) c.4105A>T (p.Lys1369Ter) c.4102A>T (p.Lys1368Ter) c.4093A>T (p.Lys1365Ter) c.4036A>T (p.Lys1346Ter) c.3919A>T (p.Lys1307Ter) | |
3 | g.77644803A>C | CA353533562 | ROBO2 | c.4229A>C (p.Lys1410Thr) c.4220A>C (p.Lys1407Thr) c.4115A>C (p.Lys1372Thr) c.4307A>C (p.Lys1436Thr) c.*977A>C (n.*977A>C) c.4319A>C (p.Lys1440Thr) c.4493A>C (p.Lys1498Thr) c.*2467A>C (n.*2467A>C) c.4160A>C (p.Lys1387Thr) c.575A>C (p.Lys192Thr) c.4217A>C (p.Lys1406Thr) c.4034A>C (p.Lys1345Thr) n.6022A>C c.*2478A>C (n.*2478A>C) c.528A>C c.4082A>C (p.Lys1361Thr) c.492A>C c.3650A>C (p.Lys1217Thr) c.4046A>C (p.Lys1349Thr) c.2255A>C (p.Lys752Thr) c.4697A>C (p.Lys1566Thr) c.4571A>C (p.Lys1524Thr) c.4514A>C (p.Lys1505Thr) c.4241A>C (p.Lys1414Thr) c.4628A>C (p.Lys1543Thr) c.4562A>C (p.Lys1521Thr) c.4502A>C (p.Lys1501Thr) c.4388A>C (p.Lys1463Thr) c.4367A>C (p.Lys1456Thr) c.4232A>C (p.Lys1411Thr) c.4172A>C (p.Lys1391Thr) c.4106A>C (p.Lys1369Thr) c.4103A>C (p.Lys1368Thr) c.4094A>C (p.Lys1365Thr) c.4037A>C (p.Lys1346Thr) c.3920A>C (p.Lys1307Thr) | |
3 | g.77644803A>G | CA353533563 | ROBO2 | c.4229A>G (p.Lys1410Arg) c.4220A>G (p.Lys1407Arg) c.4115A>G (p.Lys1372Arg) c.4307A>G (p.Lys1436Arg) c.*977A>G (n.*977A>G) c.4319A>G (p.Lys1440Arg) c.4493A>G (p.Lys1498Arg) c.*2467A>G (n.*2467A>G) c.4160A>G (p.Lys1387Arg) c.575A>G (p.Lys192Arg) c.4217A>G (p.Lys1406Arg) c.4034A>G (p.Lys1345Arg) n.6022A>G c.*2478A>G (n.*2478A>G) c.528A>G c.4082A>G (p.Lys1361Arg) c.492A>G c.3650A>G (p.Lys1217Arg) c.4046A>G (p.Lys1349Arg) c.2255A>G (p.Lys752Arg) c.4697A>G (p.Lys1566Arg) c.4571A>G (p.Lys1524Arg) c.4514A>G (p.Lys1505Arg) c.4241A>G (p.Lys1414Arg) c.4628A>G (p.Lys1543Arg) c.4562A>G (p.Lys1521Arg) c.4502A>G (p.Lys1501Arg) c.4388A>G (p.Lys1463Arg) c.4367A>G (p.Lys1456Arg) c.4232A>G (p.Lys1411Arg) c.4172A>G (p.Lys1391Arg) c.4106A>G (p.Lys1369Arg) c.4103A>G (p.Lys1368Arg) c.4094A>G (p.Lys1365Arg) c.4037A>G (p.Lys1346Arg) c.3920A>G (p.Lys1307Arg) | |
3 | g.77644803A>T | CA353533565 | ROBO2 | c.4229A>T (p.Lys1410Ile) c.4220A>T (p.Lys1407Ile) c.4115A>T (p.Lys1372Ile) c.4307A>T (p.Lys1436Ile) c.*977A>T (n.*977A>T) c.4319A>T (p.Lys1440Ile) c.4493A>T (p.Lys1498Ile) c.*2467A>T (n.*2467A>T) c.4160A>T (p.Lys1387Ile) c.575A>T (p.Lys192Ile) c.4217A>T (p.Lys1406Ile) c.4034A>T (p.Lys1345Ile) n.6022A>T c.*2478A>T (n.*2478A>T) c.528A>T c.4082A>T (p.Lys1361Ile) c.492A>T c.3650A>T (p.Lys1217Ile) c.4046A>T (p.Lys1349Ile) c.2255A>T (p.Lys752Ile) c.4697A>T (p.Lys1566Ile) c.4571A>T (p.Lys1524Ile) c.4514A>T (p.Lys1505Ile) c.4241A>T (p.Lys1414Ile) c.4628A>T (p.Lys1543Ile) c.4562A>T (p.Lys1521Ile) c.4502A>T (p.Lys1501Ile) c.4388A>T (p.Lys1463Ile) c.4367A>T (p.Lys1456Ile) c.4232A>T (p.Lys1411Ile) c.4172A>T (p.Lys1391Ile) c.4106A>T (p.Lys1369Ile) c.4103A>T (p.Lys1368Ile) c.4094A>T (p.Lys1365Ile) c.4037A>T (p.Lys1346Ile) c.3920A>T (p.Lys1307Ile) | |
3 | g.77644804A= | CA1376777951 | ROBO2 | c.4230A= (p.Lys1410=) c.4221A= (p.Lys1407=) c.4116A= (p.Lys1372=) c.4308A= (p.Lys1436=) c.*978A= (n.*978A=) c.4320A= (p.Lys1440=) c.4494A= (p.Lys1498=) c.*2468A= (n.*2468A=) c.4161A= (p.Lys1387=) c.576A= (p.Lys192=) c.4218A= (p.Lys1406=) c.4035A= (p.Lys1345=) n.6023A= c.*2479A= (n.*2479A=) c.529A= c.4083A= (p.Lys1361=) c.493A= c.3651A= (p.Lys1217=) c.4047A= (p.Lys1349=) c.2256A= (p.Lys752=) c.4698A= (p.Lys1566=) c.4572A= (p.Lys1524=) c.4515A= (p.Lys1505=) c.4242A= (p.Lys1414=) c.4629A= (p.Lys1543=) c.4563A= (p.Lys1521=) c.4503A= (p.Lys1501=) c.4389A= (p.Lys1463=) c.4368A= (p.Lys1456=) c.4233A= (p.Lys1411=) c.4173A= (p.Lys1391=) c.4107A= (p.Lys1369=) c.4104A= (p.Lys1368=) c.4095A= (p.Lys1365=) c.4038A= (p.Lys1346=) c.3921A= (p.Lys1307=) | |
3 | g.77644804A>C | CA353533567 | ROBO2 | c.4230A>C (p.Lys1410Asn) c.4221A>C (p.Lys1407Asn) c.4116A>C (p.Lys1372Asn) c.4308A>C (p.Lys1436Asn) c.*978A>C (n.*978A>C) c.4320A>C (p.Lys1440Asn) c.4494A>C (p.Lys1498Asn) c.*2468A>C (n.*2468A>C) c.4161A>C (p.Lys1387Asn) c.576A>C (p.Lys192Asn) c.4218A>C (p.Lys1406Asn) c.4035A>C (p.Lys1345Asn) n.6023A>C c.*2479A>C (n.*2479A>C) c.529A>C c.4083A>C (p.Lys1361Asn) c.493A>C c.3651A>C (p.Lys1217Asn) c.4047A>C (p.Lys1349Asn) c.2256A>C (p.Lys752Asn) c.4698A>C (p.Lys1566Asn) c.4572A>C (p.Lys1524Asn) c.4515A>C (p.Lys1505Asn) c.4242A>C (p.Lys1414Asn) c.4629A>C (p.Lys1543Asn) c.4563A>C (p.Lys1521Asn) c.4503A>C (p.Lys1501Asn) c.4389A>C (p.Lys1463Asn) c.4368A>C (p.Lys1456Asn) c.4233A>C (p.Lys1411Asn) c.4173A>C (p.Lys1391Asn) c.4107A>C (p.Lys1369Asn) c.4104A>C (p.Lys1368Asn) c.4095A>C (p.Lys1365Asn) c.4038A>C (p.Lys1346Asn) c.3921A>C (p.Lys1307Asn) | dbSNP |
3 | g.77644804A>G | CA434435305 | ROBO2 | c.4230A>G (p.Lys1410=) c.4221A>G (p.Lys1407=) c.4116A>G (p.Lys1372=) c.4308A>G (p.Lys1436=) c.*978A>G (n.*978A>G) c.4320A>G (p.Lys1440=) c.4494A>G (p.Lys1498=) c.*2468A>G (n.*2468A>G) c.4161A>G (p.Lys1387=) c.576A>G (p.Lys192=) c.4218A>G (p.Lys1406=) c.4035A>G (p.Lys1345=) n.6023A>G c.*2479A>G (n.*2479A>G) c.529A>G c.4083A>G (p.Lys1361=) c.493A>G c.3651A>G (p.Lys1217=) c.4047A>G (p.Lys1349=) c.2256A>G (p.Lys752=) c.4698A>G (p.Lys1566=) c.4572A>G (p.Lys1524=) c.4515A>G (p.Lys1505=) c.4242A>G (p.Lys1414=) c.4629A>G (p.Lys1543=) c.4563A>G (p.Lys1521=) c.4503A>G (p.Lys1501=) c.4389A>G (p.Lys1463=) c.4368A>G (p.Lys1456=) c.4233A>G (p.Lys1411=) c.4173A>G (p.Lys1391=) c.4107A>G (p.Lys1369=) c.4104A>G (p.Lys1368=) c.4095A>G (p.Lys1365=) c.4038A>G (p.Lys1346=) c.3921A>G (p.Lys1307=) | |
3 | g.77644804A>T | CA353533569 | ROBO2 | c.4230A>T (p.Lys1410Asn) c.4221A>T (p.Lys1407Asn) c.4116A>T (p.Lys1372Asn) c.4308A>T (p.Lys1436Asn) c.*978A>T (n.*978A>T) c.4320A>T (p.Lys1440Asn) c.4494A>T (p.Lys1498Asn) c.*2468A>T (n.*2468A>T) c.4161A>T (p.Lys1387Asn) c.576A>T (p.Lys192Asn) c.4218A>T (p.Lys1406Asn) c.4035A>T (p.Lys1345Asn) n.6023A>T c.*2479A>T (n.*2479A>T) c.529A>T c.4083A>T (p.Lys1361Asn) c.493A>T c.3651A>T (p.Lys1217Asn) c.4047A>T (p.Lys1349Asn) c.2256A>T (p.Lys752Asn) c.4698A>T (p.Lys1566Asn) c.4572A>T (p.Lys1524Asn) c.4515A>T (p.Lys1505Asn) c.4242A>T (p.Lys1414Asn) c.4629A>T (p.Lys1543Asn) c.4563A>T (p.Lys1521Asn) c.4503A>T (p.Lys1501Asn) c.4389A>T (p.Lys1463Asn) c.4368A>T (p.Lys1456Asn) c.4233A>T (p.Lys1411Asn) c.4173A>T (p.Lys1391Asn) c.4107A>T (p.Lys1369Asn) c.4104A>T (p.Lys1368Asn) c.4095A>T (p.Lys1365Asn) c.4038A>T (p.Lys1346Asn) c.3921A>T (p.Lys1307Asn) | |
3 | g.77644805A>C | CA353533571 | ROBO2 | c.4231A>C (p.Thr1411Pro) c.4222A>C (p.Thr1408Pro) c.4117A>C (p.Thr1373Pro) c.4309A>C (p.Thr1437Pro) c.*979A>C (n.*979A>C) c.4321A>C (p.Thr1441Pro) c.4495A>C (p.Thr1499Pro) c.*2469A>C (n.*2469A>C) c.4162A>C (p.Thr1388Pro) c.577A>C (p.Thr193Pro) c.4219A>C (p.Thr1407Pro) c.4036A>C (p.Thr1346Pro) n.6024A>C c.*2480A>C (n.*2480A>C) c.530A>C c.4084A>C (p.Thr1362Pro) c.494A>C c.3652A>C (p.Thr1218Pro) c.4048A>C (p.Thr1350Pro) c.2257A>C (p.Thr753Pro) c.4699A>C (p.Thr1567Pro) c.4573A>C (p.Thr1525Pro) c.4516A>C (p.Thr1506Pro) c.4243A>C (p.Thr1415Pro) c.4630A>C (p.Thr1544Pro) c.4564A>C (p.Thr1522Pro) c.4504A>C (p.Thr1502Pro) c.4390A>C (p.Thr1464Pro) c.4369A>C (p.Thr1457Pro) c.4234A>C (p.Thr1412Pro) c.4174A>C (p.Thr1392Pro) c.4108A>C (p.Thr1370Pro) c.4105A>C (p.Thr1369Pro) c.4096A>C (p.Thr1366Pro) c.4039A>C (p.Thr1347Pro) c.3922A>C (p.Thr1308Pro) | |
3 | g.77644805A>G | CA353533575 | ROBO2 | c.4231A>G (p.Thr1411Ala) c.4222A>G (p.Thr1408Ala) c.4117A>G (p.Thr1373Ala) c.4309A>G (p.Thr1437Ala) c.*979A>G (n.*979A>G) c.4321A>G (p.Thr1441Ala) c.4495A>G (p.Thr1499Ala) c.*2469A>G (n.*2469A>G) c.4162A>G (p.Thr1388Ala) c.577A>G (p.Thr193Ala) c.4219A>G (p.Thr1407Ala) c.4036A>G (p.Thr1346Ala) n.6024A>G c.*2480A>G (n.*2480A>G) c.530A>G c.4084A>G (p.Thr1362Ala) c.494A>G c.3652A>G (p.Thr1218Ala) c.4048A>G (p.Thr1350Ala) c.2257A>G (p.Thr753Ala) c.4699A>G (p.Thr1567Ala) c.4573A>G (p.Thr1525Ala) c.4516A>G (p.Thr1506Ala) c.4243A>G (p.Thr1415Ala) c.4630A>G (p.Thr1544Ala) c.4564A>G (p.Thr1522Ala) c.4504A>G (p.Thr1502Ala) c.4390A>G (p.Thr1464Ala) c.4369A>G (p.Thr1457Ala) c.4234A>G (p.Thr1412Ala) c.4174A>G (p.Thr1392Ala) c.4108A>G (p.Thr1370Ala) c.4105A>G (p.Thr1369Ala) c.4096A>G (p.Thr1366Ala) c.4039A>G (p.Thr1347Ala) c.3922A>G (p.Thr1308Ala) | |
3 | g.77644805A>T | CA353533573 | ROBO2 | c.4231A>T (p.Thr1411Ser) c.4222A>T (p.Thr1408Ser) c.4117A>T (p.Thr1373Ser) c.4309A>T (p.Thr1437Ser) c.*979A>T (n.*979A>T) c.4321A>T (p.Thr1441Ser) c.4495A>T (p.Thr1499Ser) c.*2469A>T (n.*2469A>T) c.4162A>T (p.Thr1388Ser) c.577A>T (p.Thr193Ser) c.4219A>T (p.Thr1407Ser) c.4036A>T (p.Thr1346Ser) n.6024A>T c.*2480A>T (n.*2480A>T) c.530A>T c.4084A>T (p.Thr1362Ser) c.494A>T c.3652A>T (p.Thr1218Ser) c.4048A>T (p.Thr1350Ser) c.2257A>T (p.Thr753Ser) c.4699A>T (p.Thr1567Ser) c.4573A>T (p.Thr1525Ser) c.4516A>T (p.Thr1506Ser) c.4243A>T (p.Thr1415Ser) c.4630A>T (p.Thr1544Ser) c.4564A>T (p.Thr1522Ser) c.4504A>T (p.Thr1502Ser) c.4390A>T (p.Thr1464Ser) c.4369A>T (p.Thr1457Ser) c.4234A>T (p.Thr1412Ser) c.4174A>T (p.Thr1392Ser) c.4108A>T (p.Thr1370Ser) c.4105A>T (p.Thr1369Ser) c.4096A>T (p.Thr1366Ser) c.4039A>T (p.Thr1347Ser) c.3922A>T (p.Thr1308Ser) | |
3 | g.77644806C>A | CA353533577 | ROBO2 | c.4232C>A (p.Thr1411Asn) c.4223C>A (p.Thr1408Asn) c.4118C>A (p.Thr1373Asn) c.4310C>A (p.Thr1437Asn) c.*980C>A (n.*980C>A) c.4322C>A (p.Thr1441Asn) c.4496C>A (p.Thr1499Asn) c.*2470C>A (n.*2470C>A) c.4163C>A (p.Thr1388Asn) c.578C>A (p.Thr193Asn) c.4220C>A (p.Thr1407Asn) c.4037C>A (p.Thr1346Asn) n.6025C>A c.*2481C>A (n.*2481C>A) c.531C>A c.4085C>A (p.Thr1362Asn) c.495C>A c.3653C>A (p.Thr1218Asn) c.4049C>A (p.Thr1350Asn) c.2258C>A (p.Thr753Asn) c.4700C>A (p.Thr1567Asn) c.4574C>A (p.Thr1525Asn) c.4517C>A (p.Thr1506Asn) c.4244C>A (p.Thr1415Asn) c.4631C>A (p.Thr1544Asn) c.4565C>A (p.Thr1522Asn) c.4505C>A (p.Thr1502Asn) c.4391C>A (p.Thr1464Asn) c.4370C>A (p.Thr1457Asn) c.4235C>A (p.Thr1412Asn) c.4175C>A (p.Thr1392Asn) c.4109C>A (p.Thr1370Asn) c.4106C>A (p.Thr1369Asn) c.4097C>A (p.Thr1366Asn) c.4040C>A (p.Thr1347Asn) c.3923C>A (p.Thr1308Asn) | dbSNP gnomAD v2 |
3 | g.77644806C= | CA1376777952 | ROBO2 | c.4232C= (p.Thr1411=) c.4223C= (p.Thr1408=) c.4118C= (p.Thr1373=) c.4310C= (p.Thr1437=) c.*980C= (n.*980C=) c.4322C= (p.Thr1441=) c.4496C= (p.Thr1499=) c.*2470C= (n.*2470C=) c.4163C= (p.Thr1388=) c.578C= (p.Thr193=) c.4220C= (p.Thr1407=) c.4037C= (p.Thr1346=) n.6025C= c.*2481C= (n.*2481C=) c.531C= c.4085C= (p.Thr1362=) c.495C= c.3653C= (p.Thr1218=) c.4049C= (p.Thr1350=) c.2258C= (p.Thr753=) c.4700C= (p.Thr1567=) c.4574C= (p.Thr1525=) c.4517C= (p.Thr1506=) c.4244C= (p.Thr1415=) c.4631C= (p.Thr1544=) c.4565C= (p.Thr1522=) c.4505C= (p.Thr1502=) c.4391C= (p.Thr1464=) c.4370C= (p.Thr1457=) c.4235C= (p.Thr1412=) c.4175C= (p.Thr1392=) c.4109C= (p.Thr1370=) c.4106C= (p.Thr1369=) c.4097C= (p.Thr1366=) c.4040C= (p.Thr1347=) c.3923C= (p.Thr1308=) | |
3 | g.77644806C>G | CA353533578 | ROBO2 | c.4232C>G (p.Thr1411Ser) c.4223C>G (p.Thr1408Ser) c.4118C>G (p.Thr1373Ser) c.4310C>G (p.Thr1437Ser) c.*980C>G (n.*980C>G) c.4322C>G (p.Thr1441Ser) c.4496C>G (p.Thr1499Ser) c.*2470C>G (n.*2470C>G) c.4163C>G (p.Thr1388Ser) c.578C>G (p.Thr193Ser) c.4220C>G (p.Thr1407Ser) c.4037C>G (p.Thr1346Ser) n.6025C>G c.*2481C>G (n.*2481C>G) c.531C>G c.4085C>G (p.Thr1362Ser) c.495C>G c.3653C>G (p.Thr1218Ser) c.4049C>G (p.Thr1350Ser) c.2258C>G (p.Thr753Ser) c.4700C>G (p.Thr1567Ser) c.4574C>G (p.Thr1525Ser) c.4517C>G (p.Thr1506Ser) c.4244C>G (p.Thr1415Ser) c.4631C>G (p.Thr1544Ser) c.4565C>G (p.Thr1522Ser) c.4505C>G (p.Thr1502Ser) c.4391C>G (p.Thr1464Ser) c.4370C>G (p.Thr1457Ser) c.4235C>G (p.Thr1412Ser) c.4175C>G (p.Thr1392Ser) c.4109C>G (p.Thr1370Ser) c.4106C>G (p.Thr1369Ser) c.4097C>G (p.Thr1366Ser) c.4040C>G (p.Thr1347Ser) c.3923C>G (p.Thr1308Ser) | |
3 | g.77644806C>T | CA353533579 | ROBO2 | c.4232C>T (p.Thr1411Ile) c.4223C>T (p.Thr1408Ile) c.4118C>T (p.Thr1373Ile) c.4310C>T (p.Thr1437Ile) c.*980C>T (n.*980C>T) c.4322C>T (p.Thr1441Ile) c.4496C>T (p.Thr1499Ile) c.*2470C>T (n.*2470C>T) c.4163C>T (p.Thr1388Ile) c.578C>T (p.Thr193Ile) c.4220C>T (p.Thr1407Ile) c.4037C>T (p.Thr1346Ile) n.6025C>T c.*2481C>T (n.*2481C>T) c.531C>T c.4085C>T (p.Thr1362Ile) c.495C>T c.3653C>T (p.Thr1218Ile) c.4049C>T (p.Thr1350Ile) c.2258C>T (p.Thr753Ile) c.4700C>T (p.Thr1567Ile) c.4574C>T (p.Thr1525Ile) c.4517C>T (p.Thr1506Ile) c.4244C>T (p.Thr1415Ile) c.4631C>T (p.Thr1544Ile) c.4565C>T (p.Thr1522Ile) c.4505C>T (p.Thr1502Ile) c.4391C>T (p.Thr1464Ile) c.4370C>T (p.Thr1457Ile) c.4235C>T (p.Thr1412Ile) c.4175C>T (p.Thr1392Ile) c.4109C>T (p.Thr1370Ile) c.4106C>T (p.Thr1369Ile) c.4097C>T (p.Thr1366Ile) c.4040C>T (p.Thr1347Ile) c.3923C>T (p.Thr1308Ile) | gnomAD v4 |
3 | g.77644807C>A | CA2497829 | ROBO2 | c.4233C>A (p.Thr1411=) c.4224C>A (p.Thr1408=) c.4119C>A (p.Thr1373=) c.4311C>A (p.Thr1437=) c.*981C>A (n.*981C>A) c.4323C>A (p.Thr1441=) c.4497C>A (p.Thr1499=) c.*2471C>A (n.*2471C>A) c.4164C>A (p.Thr1388=) c.579C>A (p.Thr193=) c.4221C>A (p.Thr1407=) c.4038C>A (p.Thr1346=) n.6026C>A c.*2482C>A (n.*2482C>A) c.532C>A c.4086C>A (p.Thr1362=) c.496C>A c.3654C>A (p.Thr1218=) c.4050C>A (p.Thr1350=) c.2259C>A (p.Thr753=) c.4701C>A (p.Thr1567=) c.4575C>A (p.Thr1525=) c.4518C>A (p.Thr1506=) c.4245C>A (p.Thr1415=) c.4632C>A (p.Thr1544=) c.4566C>A (p.Thr1522=) c.4506C>A (p.Thr1502=) c.4392C>A (p.Thr1464=) c.4371C>A (p.Thr1457=) c.4236C>A (p.Thr1412=) c.4176C>A (p.Thr1392=) c.4110C>A (p.Thr1370=) c.4107C>A (p.Thr1369=) c.4098C>A (p.Thr1366=) c.4041C>A (p.Thr1347=) c.3924C>A (p.Thr1308=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.77644807C= | CA1376777953 | ROBO2 | c.4233C= (p.Thr1411=) c.4224C= (p.Thr1408=) c.4119C= (p.Thr1373=) c.4311C= (p.Thr1437=) c.*981C= (n.*981C=) c.4323C= (p.Thr1441=) c.4497C= (p.Thr1499=) c.*2471C= (n.*2471C=) c.4164C= (p.Thr1388=) c.579C= (p.Thr193=) c.4221C= (p.Thr1407=) c.4038C= (p.Thr1346=) n.6026C= c.*2482C= (n.*2482C=) c.532C= c.4086C= (p.Thr1362=) c.496C= c.3654C= (p.Thr1218=) c.4050C= (p.Thr1350=) c.2259C= (p.Thr753=) c.4701C= (p.Thr1567=) c.4575C= (p.Thr1525=) c.4518C= (p.Thr1506=) c.4245C= (p.Thr1415=) c.4632C= (p.Thr1544=) c.4566C= (p.Thr1522=) c.4506C= (p.Thr1502=) c.4392C= (p.Thr1464=) c.4371C= (p.Thr1457=) c.4236C= (p.Thr1412=) c.4176C= (p.Thr1392=) c.4110C= (p.Thr1370=) c.4107C= (p.Thr1369=) c.4098C= (p.Thr1366=) c.4041C= (p.Thr1347=) c.3924C= (p.Thr1308=) | |
3 | g.77644807C>G | CA434435307 | ROBO2 | c.4233C>G (p.Thr1411=) c.4224C>G (p.Thr1408=) c.4119C>G (p.Thr1373=) c.4311C>G (p.Thr1437=) c.*981C>G (n.*981C>G) c.4323C>G (p.Thr1441=) c.4497C>G (p.Thr1499=) c.*2471C>G (n.*2471C>G) c.4164C>G (p.Thr1388=) c.579C>G (p.Thr193=) c.4221C>G (p.Thr1407=) c.4038C>G (p.Thr1346=) n.6026C>G c.*2482C>G (n.*2482C>G) c.532C>G c.4086C>G (p.Thr1362=) c.496C>G c.3654C>G (p.Thr1218=) c.4050C>G (p.Thr1350=) c.2259C>G (p.Thr753=) c.4701C>G (p.Thr1567=) c.4575C>G (p.Thr1525=) c.4518C>G (p.Thr1506=) c.4245C>G (p.Thr1415=) c.4632C>G (p.Thr1544=) c.4566C>G (p.Thr1522=) c.4506C>G (p.Thr1502=) c.4392C>G (p.Thr1464=) c.4371C>G (p.Thr1457=) c.4236C>G (p.Thr1412=) c.4176C>G (p.Thr1392=) c.4110C>G (p.Thr1370=) c.4107C>G (p.Thr1369=) c.4098C>G (p.Thr1366=) c.4041C>G (p.Thr1347=) c.3924C>G (p.Thr1308=) | |
3 | g.77644807C>T | CA2497828 | ROBO2 | c.4233C>T (p.Thr1411=) c.4224C>T (p.Thr1408=) c.4119C>T (p.Thr1373=) c.4311C>T (p.Thr1437=) c.*981C>T (n.*981C>T) c.4323C>T (p.Thr1441=) c.4497C>T (p.Thr1499=) c.*2471C>T (n.*2471C>T) c.4164C>T (p.Thr1388=) c.579C>T (p.Thr193=) c.4221C>T (p.Thr1407=) c.4038C>T (p.Thr1346=) n.6026C>T c.*2482C>T (n.*2482C>T) c.532C>T c.4086C>T (p.Thr1362=) c.496C>T c.3654C>T (p.Thr1218=) c.4050C>T (p.Thr1350=) c.2259C>T (p.Thr753=) c.4701C>T (p.Thr1567=) c.4575C>T (p.Thr1525=) c.4518C>T (p.Thr1506=) c.4245C>T (p.Thr1415=) c.4632C>T (p.Thr1544=) c.4566C>T (p.Thr1522=) c.4506C>T (p.Thr1502=) c.4392C>T (p.Thr1464=) c.4371C>T (p.Thr1457=) c.4236C>T (p.Thr1412=) c.4176C>T (p.Thr1392=) c.4110C>T (p.Thr1370=) c.4107C>T (p.Thr1369=) c.4098C>T (p.Thr1366=) c.4041C>T (p.Thr1347=) c.3924C>T (p.Thr1308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644808G>A | CA353533583 | ROBO2 | c.4234G>A (p.Glu1412Lys) c.4225G>A (p.Glu1409Lys) c.4120G>A (p.Glu1374Lys) c.4312G>A (p.Glu1438Lys) c.*982G>A (n.*982G>A) c.4324G>A (p.Glu1442Lys) c.4498G>A (p.Glu1500Lys) c.*2472G>A (n.*2472G>A) c.4165G>A (p.Glu1389Lys) c.580G>A (p.Glu194Lys) c.4222G>A (p.Glu1408Lys) c.4039G>A (p.Glu1347Lys) n.6027G>A c.*2483G>A (n.*2483G>A) c.533G>A c.4087G>A (p.Glu1363Lys) c.497G>A c.3655G>A (p.Glu1219Lys) c.4051G>A (p.Glu1351Lys) c.2260G>A (p.Glu754Lys) c.4702G>A (p.Glu1568Lys) c.4576G>A (p.Glu1526Lys) c.4519G>A (p.Glu1507Lys) c.4246G>A (p.Glu1416Lys) c.4633G>A (p.Glu1545Lys) c.4567G>A (p.Glu1523Lys) c.4507G>A (p.Glu1503Lys) c.4393G>A (p.Glu1465Lys) c.4372G>A (p.Glu1458Lys) c.4237G>A (p.Glu1413Lys) c.4177G>A (p.Glu1393Lys) c.4111G>A (p.Glu1371Lys) c.4108G>A (p.Glu1370Lys) c.4099G>A (p.Glu1367Lys) c.4042G>A (p.Glu1348Lys) c.3925G>A (p.Glu1309Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.77644808G>C | CA353533584 | ROBO2 | c.4234G>C (p.Glu1412Gln) c.4225G>C (p.Glu1409Gln) c.4120G>C (p.Glu1374Gln) c.4312G>C (p.Glu1438Gln) c.*982G>C (n.*982G>C) c.4324G>C (p.Glu1442Gln) c.4498G>C (p.Glu1500Gln) c.*2472G>C (n.*2472G>C) c.4165G>C (p.Glu1389Gln) c.580G>C (p.Glu194Gln) c.4222G>C (p.Glu1408Gln) c.4039G>C (p.Glu1347Gln) n.6027G>C c.*2483G>C (n.*2483G>C) c.533G>C c.4087G>C (p.Glu1363Gln) c.497G>C c.3655G>C (p.Glu1219Gln) c.4051G>C (p.Glu1351Gln) c.2260G>C (p.Glu754Gln) c.4702G>C (p.Glu1568Gln) c.4576G>C (p.Glu1526Gln) c.4519G>C (p.Glu1507Gln) c.4246G>C (p.Glu1416Gln) c.4633G>C (p.Glu1545Gln) c.4567G>C (p.Glu1523Gln) c.4507G>C (p.Glu1503Gln) c.4393G>C (p.Glu1465Gln) c.4372G>C (p.Glu1458Gln) c.4237G>C (p.Glu1413Gln) c.4177G>C (p.Glu1393Gln) c.4111G>C (p.Glu1371Gln) c.4108G>C (p.Glu1370Gln) c.4099G>C (p.Glu1367Gln) c.4042G>C (p.Glu1348Gln) c.3925G>C (p.Glu1309Gln) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644808G= | CA1376777954 | ROBO2 | c.4234G= (p.Glu1412=) c.4225G= (p.Glu1409=) c.4120G= (p.Glu1374=) c.4312G= (p.Glu1438=) c.*982G= (n.*982G=) c.4324G= (p.Glu1442=) c.4498G= (p.Glu1500=) c.*2472G= (n.*2472G=) c.4165G= (p.Glu1389=) c.580G= (p.Glu194=) c.4222G= (p.Glu1408=) c.4039G= (p.Glu1347=) n.6027G= c.*2483G= (n.*2483G=) c.533G= c.4087G= (p.Glu1363=) c.497G= c.3655G= (p.Glu1219=) c.4051G= (p.Glu1351=) c.2260G= (p.Glu754=) c.4702G= (p.Glu1568=) c.4576G= (p.Glu1526=) c.4519G= (p.Glu1507=) c.4246G= (p.Glu1416=) c.4633G= (p.Glu1545=) c.4567G= (p.Glu1523=) c.4507G= (p.Glu1503=) c.4393G= (p.Glu1465=) c.4372G= (p.Glu1458=) c.4237G= (p.Glu1413=) c.4177G= (p.Glu1393=) c.4111G= (p.Glu1371=) c.4108G= (p.Glu1370=) c.4099G= (p.Glu1367=) c.4042G= (p.Glu1348=) c.3925G= (p.Glu1309=) | |
3 | g.77644808G>T | CA353533585 | ROBO2 | c.4234G>T (p.Glu1412Ter) c.4225G>T (p.Glu1409Ter) c.4120G>T (p.Glu1374Ter) c.4312G>T (p.Glu1438Ter) c.*982G>T (n.*982G>T) c.4324G>T (p.Glu1442Ter) c.4498G>T (p.Glu1500Ter) c.*2472G>T (n.*2472G>T) c.4165G>T (p.Glu1389Ter) c.580G>T (p.Glu194Ter) c.4222G>T (p.Glu1408Ter) c.4039G>T (p.Glu1347Ter) n.6027G>T c.*2483G>T (n.*2483G>T) c.533G>T c.4087G>T (p.Glu1363Ter) c.497G>T c.3655G>T (p.Glu1219Ter) c.4051G>T (p.Glu1351Ter) c.2260G>T (p.Glu754Ter) c.4702G>T (p.Glu1568Ter) c.4576G>T (p.Glu1526Ter) c.4519G>T (p.Glu1507Ter) c.4246G>T (p.Glu1416Ter) c.4633G>T (p.Glu1545Ter) c.4567G>T (p.Glu1523Ter) c.4507G>T (p.Glu1503Ter) c.4393G>T (p.Glu1465Ter) c.4372G>T (p.Glu1458Ter) c.4237G>T (p.Glu1413Ter) c.4177G>T (p.Glu1393Ter) c.4111G>T (p.Glu1371Ter) c.4108G>T (p.Glu1370Ter) c.4099G>T (p.Glu1367Ter) c.4042G>T (p.Glu1348Ter) c.3925G>T (p.Glu1309Ter) | |
3 | g.77644809A>C | CA353533587 | ROBO2 | c.4235A>C (p.Glu1412Ala) c.4226A>C (p.Glu1409Ala) c.4121A>C (p.Glu1374Ala) c.4313A>C (p.Glu1438Ala) c.*983A>C (n.*983A>C) c.4325A>C (p.Glu1442Ala) c.4499A>C (p.Glu1500Ala) c.*2473A>C (n.*2473A>C) c.4166A>C (p.Glu1389Ala) c.581A>C (p.Glu194Ala) c.4223A>C (p.Glu1408Ala) c.4040A>C (p.Glu1347Ala) n.6028A>C c.*2484A>C (n.*2484A>C) c.534A>C c.4088A>C (p.Glu1363Ala) c.498A>C c.3656A>C (p.Glu1219Ala) c.4052A>C (p.Glu1351Ala) c.2261A>C (p.Glu754Ala) c.4703A>C (p.Glu1568Ala) c.4577A>C (p.Glu1526Ala) c.4520A>C (p.Glu1507Ala) c.4247A>C (p.Glu1416Ala) c.4634A>C (p.Glu1545Ala) c.4568A>C (p.Glu1523Ala) c.4508A>C (p.Glu1503Ala) c.4394A>C (p.Glu1465Ala) c.4373A>C (p.Glu1458Ala) c.4238A>C (p.Glu1413Ala) c.4178A>C (p.Glu1393Ala) c.4112A>C (p.Glu1371Ala) c.4109A>C (p.Glu1370Ala) c.4100A>C (p.Glu1367Ala) c.4043A>C (p.Glu1348Ala) c.3926A>C (p.Glu1309Ala) | |
3 | g.77644809A>G | CA353533588 | ROBO2 | c.4235A>G (p.Glu1412Gly) c.4226A>G (p.Glu1409Gly) c.4121A>G (p.Glu1374Gly) c.4313A>G (p.Glu1438Gly) c.*983A>G (n.*983A>G) c.4325A>G (p.Glu1442Gly) c.4499A>G (p.Glu1500Gly) c.*2473A>G (n.*2473A>G) c.4166A>G (p.Glu1389Gly) c.581A>G (p.Glu194Gly) c.4223A>G (p.Glu1408Gly) c.4040A>G (p.Glu1347Gly) n.6028A>G c.*2484A>G (n.*2484A>G) c.534A>G c.4088A>G (p.Glu1363Gly) c.498A>G c.3656A>G (p.Glu1219Gly) c.4052A>G (p.Glu1351Gly) c.2261A>G (p.Glu754Gly) c.4703A>G (p.Glu1568Gly) c.4577A>G (p.Glu1526Gly) c.4520A>G (p.Glu1507Gly) c.4247A>G (p.Glu1416Gly) c.4634A>G (p.Glu1545Gly) c.4568A>G (p.Glu1523Gly) c.4508A>G (p.Glu1503Gly) c.4394A>G (p.Glu1465Gly) c.4373A>G (p.Glu1458Gly) c.4238A>G (p.Glu1413Gly) c.4178A>G (p.Glu1393Gly) c.4112A>G (p.Glu1371Gly) c.4109A>G (p.Glu1370Gly) c.4100A>G (p.Glu1367Gly) c.4043A>G (p.Glu1348Gly) c.3926A>G (p.Glu1309Gly) | |
3 | g.77644809A>T | CA353533590 | ROBO2 | c.4235A>T (p.Glu1412Val) c.4226A>T (p.Glu1409Val) c.4121A>T (p.Glu1374Val) c.4313A>T (p.Glu1438Val) c.*983A>T (n.*983A>T) c.4325A>T (p.Glu1442Val) c.4499A>T (p.Glu1500Val) c.*2473A>T (n.*2473A>T) c.4166A>T (p.Glu1389Val) c.581A>T (p.Glu194Val) c.4223A>T (p.Glu1408Val) c.4040A>T (p.Glu1347Val) n.6028A>T c.*2484A>T (n.*2484A>T) c.534A>T c.4088A>T (p.Glu1363Val) c.498A>T c.3656A>T (p.Glu1219Val) c.4052A>T (p.Glu1351Val) c.2261A>T (p.Glu754Val) c.4703A>T (p.Glu1568Val) c.4577A>T (p.Glu1526Val) c.4520A>T (p.Glu1507Val) c.4247A>T (p.Glu1416Val) c.4634A>T (p.Glu1545Val) c.4568A>T (p.Glu1523Val) c.4508A>T (p.Glu1503Val) c.4394A>T (p.Glu1465Val) c.4373A>T (p.Glu1458Val) c.4238A>T (p.Glu1413Val) c.4178A>T (p.Glu1393Val) c.4112A>T (p.Glu1371Val) c.4109A>T (p.Glu1370Val) c.4100A>T (p.Glu1367Val) c.4043A>T (p.Glu1348Val) c.3926A>T (p.Glu1309Val) | |
3 | g.77644810G>A | CA2497830 | ROBO2 | c.4236G>A (p.Glu1412=) c.4227G>A (p.Glu1409=) c.4122G>A (p.Glu1374=) c.4314G>A (p.Glu1438=) c.*984G>A (n.*984G>A) c.4326G>A (p.Glu1442=) c.4500G>A (p.Glu1500=) c.*2474G>A (n.*2474G>A) c.4167G>A (p.Glu1389=) c.582G>A (p.Glu194=) c.4224G>A (p.Glu1408=) c.4041G>A (p.Glu1347=) n.6029G>A c.*2485G>A (n.*2485G>A) c.535G>A c.4089G>A (p.Glu1363=) c.499G>A c.3657G>A (p.Glu1219=) c.4053G>A (p.Glu1351=) c.2262G>A (p.Glu754=) c.4704G>A (p.Glu1568=) c.4578G>A (p.Glu1526=) c.4521G>A (p.Glu1507=) c.4248G>A (p.Glu1416=) c.4635G>A (p.Glu1545=) c.4569G>A (p.Glu1523=) c.4509G>A (p.Glu1503=) c.4395G>A (p.Glu1465=) c.4374G>A (p.Glu1458=) c.4239G>A (p.Glu1413=) c.4179G>A (p.Glu1393=) c.4113G>A (p.Glu1371=) c.4110G>A (p.Glu1370=) c.4101G>A (p.Glu1367=) c.4044G>A (p.Glu1348=) c.3927G>A (p.Glu1309=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644810G>C | CA353533593 | ROBO2 | c.4236G>C (p.Glu1412Asp) c.4227G>C (p.Glu1409Asp) c.4122G>C (p.Glu1374Asp) c.4314G>C (p.Glu1438Asp) c.*984G>C (n.*984G>C) c.4326G>C (p.Glu1442Asp) c.4500G>C (p.Glu1500Asp) c.*2474G>C (n.*2474G>C) c.4167G>C (p.Glu1389Asp) c.582G>C (p.Glu194Asp) c.4224G>C (p.Glu1408Asp) c.4041G>C (p.Glu1347Asp) n.6029G>C c.*2485G>C (n.*2485G>C) c.535G>C c.4089G>C (p.Glu1363Asp) c.499G>C c.3657G>C (p.Glu1219Asp) c.4053G>C (p.Glu1351Asp) c.2262G>C (p.Glu754Asp) c.4704G>C (p.Glu1568Asp) c.4578G>C (p.Glu1526Asp) c.4521G>C (p.Glu1507Asp) c.4248G>C (p.Glu1416Asp) c.4635G>C (p.Glu1545Asp) c.4569G>C (p.Glu1523Asp) c.4509G>C (p.Glu1503Asp) c.4395G>C (p.Glu1465Asp) c.4374G>C (p.Glu1458Asp) c.4239G>C (p.Glu1413Asp) c.4179G>C (p.Glu1393Asp) c.4113G>C (p.Glu1371Asp) c.4110G>C (p.Glu1370Asp) c.4101G>C (p.Glu1367Asp) c.4044G>C (p.Glu1348Asp) c.3927G>C (p.Glu1309Asp) | |
3 | g.77644810G= | CA1376777955 | ROBO2 | c.4236G= (p.Glu1412=) c.4227G= (p.Glu1409=) c.4122G= (p.Glu1374=) c.4314G= (p.Glu1438=) c.*984G= (n.*984G=) c.4326G= (p.Glu1442=) c.4500G= (p.Glu1500=) c.*2474G= (n.*2474G=) c.4167G= (p.Glu1389=) c.582G= (p.Glu194=) c.4224G= (p.Glu1408=) c.4041G= (p.Glu1347=) n.6029G= c.*2485G= (n.*2485G=) c.535G= c.4089G= (p.Glu1363=) c.499G= c.3657G= (p.Glu1219=) c.4053G= (p.Glu1351=) c.2262G= (p.Glu754=) c.4704G= (p.Glu1568=) c.4578G= (p.Glu1526=) c.4521G= (p.Glu1507=) c.4248G= (p.Glu1416=) c.4635G= (p.Glu1545=) c.4569G= (p.Glu1523=) c.4509G= (p.Glu1503=) c.4395G= (p.Glu1465=) c.4374G= (p.Glu1458=) c.4239G= (p.Glu1413=) c.4179G= (p.Glu1393=) c.4113G= (p.Glu1371=) c.4110G= (p.Glu1370=) c.4101G= (p.Glu1367=) c.4044G= (p.Glu1348=) c.3927G= (p.Glu1309=) | |
3 | g.77644810G>T | CA353533591 | ROBO2 | c.4236G>T (p.Glu1412Asp) c.4227G>T (p.Glu1409Asp) c.4122G>T (p.Glu1374Asp) c.4314G>T (p.Glu1438Asp) c.*984G>T (n.*984G>T) c.4326G>T (p.Glu1442Asp) c.4500G>T (p.Glu1500Asp) c.*2474G>T (n.*2474G>T) c.4167G>T (p.Glu1389Asp) c.582G>T (p.Glu194Asp) c.4224G>T (p.Glu1408Asp) c.4041G>T (p.Glu1347Asp) n.6029G>T c.*2485G>T (n.*2485G>T) c.535G>T c.4089G>T (p.Glu1363Asp) c.499G>T c.3657G>T (p.Glu1219Asp) c.4053G>T (p.Glu1351Asp) c.2262G>T (p.Glu754Asp) c.4704G>T (p.Glu1568Asp) c.4578G>T (p.Glu1526Asp) c.4521G>T (p.Glu1507Asp) c.4248G>T (p.Glu1416Asp) c.4635G>T (p.Glu1545Asp) c.4569G>T (p.Glu1523Asp) c.4509G>T (p.Glu1503Asp) c.4395G>T (p.Glu1465Asp) c.4374G>T (p.Glu1458Asp) c.4239G>T (p.Glu1413Asp) c.4179G>T (p.Glu1393Asp) c.4113G>T (p.Glu1371Asp) c.4110G>T (p.Glu1370Asp) c.4101G>T (p.Glu1367Asp) c.4044G>T (p.Glu1348Asp) c.3927G>T (p.Glu1309Asp) | gnomAD v4 COSMIC COSMIC |
3 | g.77644811G>A | CA353533597 | ROBO2 | c.4237G>A (p.Val1413Met) c.4228G>A (p.Val1410Met) c.4123G>A (p.Val1375Met) c.4315G>A (p.Val1439Met) c.*985G>A (n.*985G>A) c.4327G>A (p.Val1443Met) c.4501G>A (p.Val1501Met) c.*2475G>A (n.*2475G>A) c.4168G>A (p.Val1390Met) c.583G>A (p.Val195Met) c.4225G>A (p.Val1409Met) c.4042G>A (p.Val1348Met) n.6030G>A c.*2486G>A (n.*2486G>A) c.536G>A c.4090G>A (p.Val1364Met) c.500G>A c.3658G>A (p.Val1220Met) c.4054G>A (p.Val1352Met) c.2263G>A (p.Val755Met) c.4705G>A (p.Val1569Met) c.4579G>A (p.Val1527Met) c.4522G>A (p.Val1508Met) c.4249G>A (p.Val1417Met) c.4636G>A (p.Val1546Met) c.4570G>A (p.Val1524Met) c.4510G>A (p.Val1504Met) c.4396G>A (p.Val1466Met) c.4375G>A (p.Val1459Met) c.4240G>A (p.Val1414Met) c.4180G>A (p.Val1394Met) c.4114G>A (p.Val1372Met) c.4111G>A (p.Val1371Met) c.4102G>A (p.Val1368Met) c.4045G>A (p.Val1349Met) c.3928G>A (p.Val1310Met) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644811G>C | CA353533598 | ROBO2 | c.4237G>C (p.Val1413Leu) c.4228G>C (p.Val1410Leu) c.4123G>C (p.Val1375Leu) c.4315G>C (p.Val1439Leu) c.*985G>C (n.*985G>C) c.4327G>C (p.Val1443Leu) c.4501G>C (p.Val1501Leu) c.*2475G>C (n.*2475G>C) c.4168G>C (p.Val1390Leu) c.583G>C (p.Val195Leu) c.4225G>C (p.Val1409Leu) c.4042G>C (p.Val1348Leu) n.6030G>C c.*2486G>C (n.*2486G>C) c.536G>C c.4090G>C (p.Val1364Leu) c.500G>C c.3658G>C (p.Val1220Leu) c.4054G>C (p.Val1352Leu) c.2263G>C (p.Val755Leu) c.4705G>C (p.Val1569Leu) c.4579G>C (p.Val1527Leu) c.4522G>C (p.Val1508Leu) c.4249G>C (p.Val1417Leu) c.4636G>C (p.Val1546Leu) c.4570G>C (p.Val1524Leu) c.4510G>C (p.Val1504Leu) c.4396G>C (p.Val1466Leu) c.4375G>C (p.Val1459Leu) c.4240G>C (p.Val1414Leu) c.4180G>C (p.Val1394Leu) c.4114G>C (p.Val1372Leu) c.4111G>C (p.Val1371Leu) c.4102G>C (p.Val1368Leu) c.4045G>C (p.Val1349Leu) c.3928G>C (p.Val1310Leu) | |
3 | g.77644811G= | CA1376777956 | ROBO2 | c.4237G= (p.Val1413=) c.4228G= (p.Val1410=) c.4123G= (p.Val1375=) c.4315G= (p.Val1439=) c.*985G= (n.*985G=) c.4327G= (p.Val1443=) c.4501G= (p.Val1501=) c.*2475G= (n.*2475G=) c.4168G= (p.Val1390=) c.583G= (p.Val195=) c.4225G= (p.Val1409=) c.4042G= (p.Val1348=) n.6030G= c.*2486G= (n.*2486G=) c.536G= c.4090G= (p.Val1364=) c.500G= c.3658G= (p.Val1220=) c.4054G= (p.Val1352=) c.2263G= (p.Val755=) c.4705G= (p.Val1569=) c.4579G= (p.Val1527=) c.4522G= (p.Val1508=) c.4249G= (p.Val1417=) c.4636G= (p.Val1546=) c.4570G= (p.Val1524=) c.4510G= (p.Val1504=) c.4396G= (p.Val1466=) c.4375G= (p.Val1459=) c.4240G= (p.Val1414=) c.4180G= (p.Val1394=) c.4114G= (p.Val1372=) c.4111G= (p.Val1371=) c.4102G= (p.Val1368=) c.4045G= (p.Val1349=) c.3928G= (p.Val1310=) | |
3 | g.77644811G>T | CA353533599 | ROBO2 | c.4237G>T (p.Val1413Leu) c.4228G>T (p.Val1410Leu) c.4123G>T (p.Val1375Leu) c.4315G>T (p.Val1439Leu) c.*985G>T (n.*985G>T) c.4327G>T (p.Val1443Leu) c.4501G>T (p.Val1501Leu) c.*2475G>T (n.*2475G>T) c.4168G>T (p.Val1390Leu) c.583G>T (p.Val195Leu) c.4225G>T (p.Val1409Leu) c.4042G>T (p.Val1348Leu) n.6030G>T c.*2486G>T (n.*2486G>T) c.536G>T c.4090G>T (p.Val1364Leu) c.500G>T c.3658G>T (p.Val1220Leu) c.4054G>T (p.Val1352Leu) c.2263G>T (p.Val755Leu) c.4705G>T (p.Val1569Leu) c.4579G>T (p.Val1527Leu) c.4522G>T (p.Val1508Leu) c.4249G>T (p.Val1417Leu) c.4636G>T (p.Val1546Leu) c.4570G>T (p.Val1524Leu) c.4510G>T (p.Val1504Leu) c.4396G>T (p.Val1466Leu) c.4375G>T (p.Val1459Leu) c.4240G>T (p.Val1414Leu) c.4180G>T (p.Val1394Leu) c.4114G>T (p.Val1372Leu) c.4111G>T (p.Val1371Leu) c.4102G>T (p.Val1368Leu) c.4045G>T (p.Val1349Leu) c.3928G>T (p.Val1310Leu) | dbSNP gnomAD v4 |
3 | g.77644812T>A | CA353533601 | ROBO2 | c.4238T>A (p.Val1413Glu) c.4229T>A (p.Val1410Glu) c.4124T>A (p.Val1375Glu) c.4316T>A (p.Val1439Glu) c.*986T>A (n.*986T>A) c.4328T>A (p.Val1443Glu) c.4502T>A (p.Val1501Glu) c.*2476T>A (n.*2476T>A) c.4169T>A (p.Val1390Glu) c.584T>A (p.Val195Glu) c.4226T>A (p.Val1409Glu) c.4043T>A (p.Val1348Glu) n.6031T>A c.*2487T>A (n.*2487T>A) c.537T>A c.4091T>A (p.Val1364Glu) c.501T>A c.3659T>A (p.Val1220Glu) c.4055T>A (p.Val1352Glu) c.2264T>A (p.Val755Glu) c.4706T>A (p.Val1569Glu) c.4580T>A (p.Val1527Glu) c.4523T>A (p.Val1508Glu) c.4250T>A (p.Val1417Glu) c.4637T>A (p.Val1546Glu) c.4571T>A (p.Val1524Glu) c.4511T>A (p.Val1504Glu) c.4397T>A (p.Val1466Glu) c.4376T>A (p.Val1459Glu) c.4241T>A (p.Val1414Glu) c.4181T>A (p.Val1394Glu) c.4115T>A (p.Val1372Glu) c.4112T>A (p.Val1371Glu) c.4103T>A (p.Val1368Glu) c.4046T>A (p.Val1349Glu) c.3929T>A (p.Val1310Glu) | COSMIC COSMIC |
3 | g.77644812T>C | CA353533602 | ROBO2 | c.4238T>C (p.Val1413Ala) c.4229T>C (p.Val1410Ala) c.4124T>C (p.Val1375Ala) c.4316T>C (p.Val1439Ala) c.*986T>C (n.*986T>C) c.4328T>C (p.Val1443Ala) c.4502T>C (p.Val1501Ala) c.*2476T>C (n.*2476T>C) c.4169T>C (p.Val1390Ala) c.584T>C (p.Val195Ala) c.4226T>C (p.Val1409Ala) c.4043T>C (p.Val1348Ala) n.6031T>C c.*2487T>C (n.*2487T>C) c.537T>C c.4091T>C (p.Val1364Ala) c.501T>C c.3659T>C (p.Val1220Ala) c.4055T>C (p.Val1352Ala) c.2264T>C (p.Val755Ala) c.4706T>C (p.Val1569Ala) c.4580T>C (p.Val1527Ala) c.4523T>C (p.Val1508Ala) c.4250T>C (p.Val1417Ala) c.4637T>C (p.Val1546Ala) c.4571T>C (p.Val1524Ala) c.4511T>C (p.Val1504Ala) c.4397T>C (p.Val1466Ala) c.4376T>C (p.Val1459Ala) c.4241T>C (p.Val1414Ala) c.4181T>C (p.Val1394Ala) c.4115T>C (p.Val1372Ala) c.4112T>C (p.Val1371Ala) c.4103T>C (p.Val1368Ala) c.4046T>C (p.Val1349Ala) c.3929T>C (p.Val1310Ala) | |
3 | g.77644812T>G | CA353533604 | ROBO2 | c.4238T>G (p.Val1413Gly) c.4229T>G (p.Val1410Gly) c.4124T>G (p.Val1375Gly) c.4316T>G (p.Val1439Gly) c.*986T>G (n.*986T>G) c.4328T>G (p.Val1443Gly) c.4502T>G (p.Val1501Gly) c.*2476T>G (n.*2476T>G) c.4169T>G (p.Val1390Gly) c.584T>G (p.Val195Gly) c.4226T>G (p.Val1409Gly) c.4043T>G (p.Val1348Gly) n.6031T>G c.*2487T>G (n.*2487T>G) c.537T>G c.4091T>G (p.Val1364Gly) c.501T>G c.3659T>G (p.Val1220Gly) c.4055T>G (p.Val1352Gly) c.2264T>G (p.Val755Gly) c.4706T>G (p.Val1569Gly) c.4580T>G (p.Val1527Gly) c.4523T>G (p.Val1508Gly) c.4250T>G (p.Val1417Gly) c.4637T>G (p.Val1546Gly) c.4571T>G (p.Val1524Gly) c.4511T>G (p.Val1504Gly) c.4397T>G (p.Val1466Gly) c.4376T>G (p.Val1459Gly) c.4241T>G (p.Val1414Gly) c.4181T>G (p.Val1394Gly) c.4115T>G (p.Val1372Gly) c.4112T>G (p.Val1371Gly) c.4103T>G (p.Val1368Gly) c.4046T>G (p.Val1349Gly) c.3929T>G (p.Val1310Gly) | |
3 | g.77644813G>A | CA77532948 | ROBO2 | c.4239G>A (p.Val1413=) c.4230G>A (p.Val1410=) c.4125G>A (p.Val1375=) c.4317G>A (p.Val1439=) c.*987G>A (n.*987G>A) c.4329G>A (p.Val1443=) c.4503G>A (p.Val1501=) c.*2477G>A (n.*2477G>A) c.4170G>A (p.Val1390=) c.585G>A (p.Val195=) c.4227G>A (p.Val1409=) c.4044G>A (p.Val1348=) n.6032G>A c.*2488G>A (n.*2488G>A) c.538G>A c.4092G>A (p.Val1364=) c.502G>A c.3660G>A (p.Val1220=) c.4056G>A (p.Val1352=) c.2265G>A (p.Val755=) c.4707G>A (p.Val1569=) c.4581G>A (p.Val1527=) c.4524G>A (p.Val1508=) c.4251G>A (p.Val1417=) c.4638G>A (p.Val1546=) c.4572G>A (p.Val1524=) c.4512G>A (p.Val1504=) c.4398G>A (p.Val1466=) c.4377G>A (p.Val1459=) c.4242G>A (p.Val1414=) c.4182G>A (p.Val1394=) c.4116G>A (p.Val1372=) c.4113G>A (p.Val1371=) c.4104G>A (p.Val1368=) c.4047G>A (p.Val1349=) c.3930G>A (p.Val1310=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644813G>C | CA434435309 | ROBO2 | c.4239G>C (p.Val1413=) c.4230G>C (p.Val1410=) c.4125G>C (p.Val1375=) c.4317G>C (p.Val1439=) c.*987G>C (n.*987G>C) c.4329G>C (p.Val1443=) c.4503G>C (p.Val1501=) c.*2477G>C (n.*2477G>C) c.4170G>C (p.Val1390=) c.585G>C (p.Val195=) c.4227G>C (p.Val1409=) c.4044G>C (p.Val1348=) n.6032G>C c.*2488G>C (n.*2488G>C) c.538G>C c.4092G>C (p.Val1364=) c.502G>C c.3660G>C (p.Val1220=) c.4056G>C (p.Val1352=) c.2265G>C (p.Val755=) c.4707G>C (p.Val1569=) c.4581G>C (p.Val1527=) c.4524G>C (p.Val1508=) c.4251G>C (p.Val1417=) c.4638G>C (p.Val1546=) c.4572G>C (p.Val1524=) c.4512G>C (p.Val1504=) c.4398G>C (p.Val1466=) c.4377G>C (p.Val1459=) c.4242G>C (p.Val1414=) c.4182G>C (p.Val1394=) c.4116G>C (p.Val1372=) c.4113G>C (p.Val1371=) c.4104G>C (p.Val1368=) c.4047G>C (p.Val1349=) c.3930G>C (p.Val1310=) | |
3 | g.77644813G= | CA1376777957 | ROBO2 | c.4239G= (p.Val1413=) c.4230G= (p.Val1410=) c.4125G= (p.Val1375=) c.4317G= (p.Val1439=) c.*987G= (n.*987G=) c.4329G= (p.Val1443=) c.4503G= (p.Val1501=) c.*2477G= (n.*2477G=) c.4170G= (p.Val1390=) c.585G= (p.Val195=) c.4227G= (p.Val1409=) c.4044G= (p.Val1348=) n.6032G= c.*2488G= (n.*2488G=) c.538G= c.4092G= (p.Val1364=) c.502G= c.3660G= (p.Val1220=) c.4056G= (p.Val1352=) c.2265G= (p.Val755=) c.4707G= (p.Val1569=) c.4581G= (p.Val1527=) c.4524G= (p.Val1508=) c.4251G= (p.Val1417=) c.4638G= (p.Val1546=) c.4572G= (p.Val1524=) c.4512G= (p.Val1504=) c.4398G= (p.Val1466=) c.4377G= (p.Val1459=) c.4242G= (p.Val1414=) c.4182G= (p.Val1394=) c.4116G= (p.Val1372=) c.4113G= (p.Val1371=) c.4104G= (p.Val1368=) c.4047G= (p.Val1349=) c.3930G= (p.Val1310=) | |
3 | g.77644813G>T | CA434435308 | ROBO2 | c.4239G>T (p.Val1413=) c.4230G>T (p.Val1410=) c.4125G>T (p.Val1375=) c.4317G>T (p.Val1439=) c.*987G>T (n.*987G>T) c.4329G>T (p.Val1443=) c.4503G>T (p.Val1501=) c.*2477G>T (n.*2477G>T) c.4170G>T (p.Val1390=) c.585G>T (p.Val195=) c.4227G>T (p.Val1409=) c.4044G>T (p.Val1348=) n.6032G>T c.*2488G>T (n.*2488G>T) c.538G>T c.4092G>T (p.Val1364=) c.502G>T c.3660G>T (p.Val1220=) c.4056G>T (p.Val1352=) c.2265G>T (p.Val755=) c.4707G>T (p.Val1569=) c.4581G>T (p.Val1527=) c.4524G>T (p.Val1508=) c.4251G>T (p.Val1417=) c.4638G>T (p.Val1546=) c.4572G>T (p.Val1524=) c.4512G>T (p.Val1504=) c.4398G>T (p.Val1466=) c.4377G>T (p.Val1459=) c.4242G>T (p.Val1414=) c.4182G>T (p.Val1394=) c.4116G>T (p.Val1372=) c.4113G>T (p.Val1371=) c.4104G>T (p.Val1368=) c.4047G>T (p.Val1349=) c.3930G>T (p.Val1310=) | gnomAD v4 |
3 | g.77644814T>A | CA353533605 | ROBO2 | c.4240T>A (p.Leu1414Met) c.4231T>A (p.Leu1411Met) c.4126T>A (p.Leu1376Met) c.4318T>A (p.Leu1440Met) c.*988T>A (n.*988T>A) c.4330T>A (p.Leu1444Met) c.4504T>A (p.Leu1502Met) c.*2478T>A (n.*2478T>A) c.4171T>A (p.Leu1391Met) c.586T>A (p.Leu196Met) c.4228T>A (p.Leu1410Met) c.4045T>A (p.Leu1349Met) n.6033T>A c.*2489T>A (n.*2489T>A) c.539T>A c.4093T>A (p.Leu1365Met) c.503T>A c.3661T>A (p.Leu1221Met) c.4057T>A (p.Leu1353Met) c.2266T>A (p.Leu756Met) c.4708T>A (p.Leu1570Met) c.4582T>A (p.Leu1528Met) c.4525T>A (p.Leu1509Met) c.4252T>A (p.Leu1418Met) c.4639T>A (p.Leu1547Met) c.4573T>A (p.Leu1525Met) c.4513T>A (p.Leu1505Met) c.4399T>A (p.Leu1467Met) c.4378T>A (p.Leu1460Met) c.4243T>A (p.Leu1415Met) c.4183T>A (p.Leu1395Met) c.4117T>A (p.Leu1373Met) c.4114T>A (p.Leu1372Met) c.4105T>A (p.Leu1369Met) c.4048T>A (p.Leu1350Met) c.3931T>A (p.Leu1311Met) | |
3 | g.77644814T>C | CA434435310 | ROBO2 | c.4240T>C (p.Leu1414=) c.4231T>C (p.Leu1411=) c.4126T>C (p.Leu1376=) c.4318T>C (p.Leu1440=) c.*988T>C (n.*988T>C) c.4330T>C (p.Leu1444=) c.4504T>C (p.Leu1502=) c.*2478T>C (n.*2478T>C) c.4171T>C (p.Leu1391=) c.586T>C (p.Leu196=) c.4228T>C (p.Leu1410=) c.4045T>C (p.Leu1349=) n.6033T>C c.*2489T>C (n.*2489T>C) c.539T>C c.4093T>C (p.Leu1365=) c.503T>C c.3661T>C (p.Leu1221=) c.4057T>C (p.Leu1353=) c.2266T>C (p.Leu756=) c.4708T>C (p.Leu1570=) c.4582T>C (p.Leu1528=) c.4525T>C (p.Leu1509=) c.4252T>C (p.Leu1418=) c.4639T>C (p.Leu1547=) c.4573T>C (p.Leu1525=) c.4513T>C (p.Leu1505=) c.4399T>C (p.Leu1467=) c.4378T>C (p.Leu1460=) c.4243T>C (p.Leu1415=) c.4183T>C (p.Leu1395=) c.4117T>C (p.Leu1373=) c.4114T>C (p.Leu1372=) c.4105T>C (p.Leu1369=) c.4048T>C (p.Leu1350=) c.3931T>C (p.Leu1311=) | gnomAD v4 |
3 | g.77644814T>G | CA353533606 | ROBO2 | c.4240T>G (p.Leu1414Val) c.4231T>G (p.Leu1411Val) c.4126T>G (p.Leu1376Val) c.4318T>G (p.Leu1440Val) c.*988T>G (n.*988T>G) c.4330T>G (p.Leu1444Val) c.4504T>G (p.Leu1502Val) c.*2478T>G (n.*2478T>G) c.4171T>G (p.Leu1391Val) c.586T>G (p.Leu196Val) c.4228T>G (p.Leu1410Val) c.4045T>G (p.Leu1349Val) n.6033T>G c.*2489T>G (n.*2489T>G) c.539T>G c.4093T>G (p.Leu1365Val) c.503T>G c.3661T>G (p.Leu1221Val) c.4057T>G (p.Leu1353Val) c.2266T>G (p.Leu756Val) c.4708T>G (p.Leu1570Val) c.4582T>G (p.Leu1528Val) c.4525T>G (p.Leu1509Val) c.4252T>G (p.Leu1418Val) c.4639T>G (p.Leu1547Val) c.4573T>G (p.Leu1525Val) c.4513T>G (p.Leu1505Val) c.4399T>G (p.Leu1467Val) c.4378T>G (p.Leu1460Val) c.4243T>G (p.Leu1415Val) c.4183T>G (p.Leu1395Val) c.4117T>G (p.Leu1373Val) c.4114T>G (p.Leu1372Val) c.4105T>G (p.Leu1369Val) c.4048T>G (p.Leu1350Val) c.3931T>G (p.Leu1311Val) | |
3 | g.77644815T>A | CA353533608 | ROBO2 | c.4241T>A (p.Leu1414Ter) c.4232T>A (p.Leu1411Ter) c.4127T>A (p.Leu1376Ter) c.4319T>A (p.Leu1440Ter) c.*989T>A (n.*989T>A) c.4331T>A (p.Leu1444Ter) c.4505T>A (p.Leu1502Ter) c.*2479T>A (n.*2479T>A) c.4172T>A (p.Leu1391Ter) c.587T>A (p.Leu196Ter) c.4229T>A (p.Leu1410Ter) c.4046T>A (p.Leu1349Ter) n.6034T>A c.*2490T>A (n.*2490T>A) c.540T>A c.4094T>A (p.Leu1365Ter) c.504T>A c.3662T>A (p.Leu1221Ter) c.4058T>A (p.Leu1353Ter) c.2267T>A (p.Leu756Ter) c.4709T>A (p.Leu1570Ter) c.4583T>A (p.Leu1528Ter) c.4526T>A (p.Leu1509Ter) c.4253T>A (p.Leu1418Ter) c.4640T>A (p.Leu1547Ter) c.4574T>A (p.Leu1525Ter) c.4514T>A (p.Leu1505Ter) c.4400T>A (p.Leu1467Ter) c.4379T>A (p.Leu1460Ter) c.4244T>A (p.Leu1415Ter) c.4184T>A (p.Leu1395Ter) c.4118T>A (p.Leu1373Ter) c.4115T>A (p.Leu1372Ter) c.4106T>A (p.Leu1369Ter) c.4049T>A (p.Leu1350Ter) c.3932T>A (p.Leu1311Ter) | |
3 | g.77644815T>C | CA353533610 | ROBO2 | c.4241T>C (p.Leu1414Ser) c.4232T>C (p.Leu1411Ser) c.4127T>C (p.Leu1376Ser) c.4319T>C (p.Leu1440Ser) c.*989T>C (n.*989T>C) c.4331T>C (p.Leu1444Ser) c.4505T>C (p.Leu1502Ser) c.*2479T>C (n.*2479T>C) c.4172T>C (p.Leu1391Ser) c.587T>C (p.Leu196Ser) c.4229T>C (p.Leu1410Ser) c.4046T>C (p.Leu1349Ser) n.6034T>C c.*2490T>C (n.*2490T>C) c.540T>C c.4094T>C (p.Leu1365Ser) c.504T>C c.3662T>C (p.Leu1221Ser) c.4058T>C (p.Leu1353Ser) c.2267T>C (p.Leu756Ser) c.4709T>C (p.Leu1570Ser) c.4583T>C (p.Leu1528Ser) c.4526T>C (p.Leu1509Ser) c.4253T>C (p.Leu1418Ser) c.4640T>C (p.Leu1547Ser) c.4574T>C (p.Leu1525Ser) c.4514T>C (p.Leu1505Ser) c.4400T>C (p.Leu1467Ser) c.4379T>C (p.Leu1460Ser) c.4244T>C (p.Leu1415Ser) c.4184T>C (p.Leu1395Ser) c.4118T>C (p.Leu1373Ser) c.4115T>C (p.Leu1372Ser) c.4106T>C (p.Leu1369Ser) c.4049T>C (p.Leu1350Ser) c.3932T>C (p.Leu1311Ser) | |
3 | g.77644815T>G | CA353533613 | ROBO2 | c.4241T>G (p.Leu1414Trp) c.4232T>G (p.Leu1411Trp) c.4127T>G (p.Leu1376Trp) c.4319T>G (p.Leu1440Trp) c.*989T>G (n.*989T>G) c.4331T>G (p.Leu1444Trp) c.4505T>G (p.Leu1502Trp) c.*2479T>G (n.*2479T>G) c.4172T>G (p.Leu1391Trp) c.587T>G (p.Leu196Trp) c.4229T>G (p.Leu1410Trp) c.4046T>G (p.Leu1349Trp) n.6034T>G c.*2490T>G (n.*2490T>G) c.540T>G c.4094T>G (p.Leu1365Trp) c.504T>G c.3662T>G (p.Leu1221Trp) c.4058T>G (p.Leu1353Trp) c.2267T>G (p.Leu756Trp) c.4709T>G (p.Leu1570Trp) c.4583T>G (p.Leu1528Trp) c.4526T>G (p.Leu1509Trp) c.4253T>G (p.Leu1418Trp) c.4640T>G (p.Leu1547Trp) c.4574T>G (p.Leu1525Trp) c.4514T>G (p.Leu1505Trp) c.4400T>G (p.Leu1467Trp) c.4379T>G (p.Leu1460Trp) c.4244T>G (p.Leu1415Trp) c.4184T>G (p.Leu1395Trp) c.4118T>G (p.Leu1373Trp) c.4115T>G (p.Leu1372Trp) c.4106T>G (p.Leu1369Trp) c.4049T>G (p.Leu1350Trp) c.3932T>G (p.Leu1311Trp) | |
3 | g.77644816G>A | CA434435312 | ROBO2 | c.4242G>A (p.Leu1414=) c.4233G>A (p.Leu1411=) c.4128G>A (p.Leu1376=) c.4320G>A (p.Leu1440=) c.*990G>A (n.*990G>A) c.4332G>A (p.Leu1444=) c.4506G>A (p.Leu1502=) c.*2480G>A (n.*2480G>A) c.4173G>A (p.Leu1391=) c.588G>A (p.Leu196=) c.4230G>A (p.Leu1410=) c.4047G>A (p.Leu1349=) n.6035G>A c.*2491G>A (n.*2491G>A) c.541G>A c.4095G>A (p.Leu1365=) c.505G>A c.3663G>A (p.Leu1221=) c.4059G>A (p.Leu1353=) c.2268G>A (p.Leu756=) c.4710G>A (p.Leu1570=) c.4584G>A (p.Leu1528=) c.4527G>A (p.Leu1509=) c.4254G>A (p.Leu1418=) c.4641G>A (p.Leu1547=) c.4575G>A (p.Leu1525=) c.4515G>A (p.Leu1505=) c.4401G>A (p.Leu1467=) c.4380G>A (p.Leu1460=) c.4245G>A (p.Leu1415=) c.4185G>A (p.Leu1395=) c.4119G>A (p.Leu1373=) c.4116G>A (p.Leu1372=) c.4107G>A (p.Leu1369=) c.4050G>A (p.Leu1350=) c.3933G>A (p.Leu1311=) | |
3 | g.77644816G>C | CA353533616 | ROBO2 | c.4242G>C (p.Leu1414Phe) c.4233G>C (p.Leu1411Phe) c.4128G>C (p.Leu1376Phe) c.4320G>C (p.Leu1440Phe) c.*990G>C (n.*990G>C) c.4332G>C (p.Leu1444Phe) c.4506G>C (p.Leu1502Phe) c.*2480G>C (n.*2480G>C) c.4173G>C (p.Leu1391Phe) c.588G>C (p.Leu196Phe) c.4230G>C (p.Leu1410Phe) c.4047G>C (p.Leu1349Phe) n.6035G>C c.*2491G>C (n.*2491G>C) c.541G>C c.4095G>C (p.Leu1365Phe) c.505G>C c.3663G>C (p.Leu1221Phe) c.4059G>C (p.Leu1353Phe) c.2268G>C (p.Leu756Phe) c.4710G>C (p.Leu1570Phe) c.4584G>C (p.Leu1528Phe) c.4527G>C (p.Leu1509Phe) c.4254G>C (p.Leu1418Phe) c.4641G>C (p.Leu1547Phe) c.4575G>C (p.Leu1525Phe) c.4515G>C (p.Leu1505Phe) c.4401G>C (p.Leu1467Phe) c.4380G>C (p.Leu1460Phe) c.4245G>C (p.Leu1415Phe) c.4185G>C (p.Leu1395Phe) c.4119G>C (p.Leu1373Phe) c.4116G>C (p.Leu1372Phe) c.4107G>C (p.Leu1369Phe) c.4050G>C (p.Leu1350Phe) c.3933G>C (p.Leu1311Phe) | |
3 | g.77644816G>T | CA353533618 | ROBO2 | c.4242G>T (p.Leu1414Phe) c.4233G>T (p.Leu1411Phe) c.4128G>T (p.Leu1376Phe) c.4320G>T (p.Leu1440Phe) c.*990G>T (n.*990G>T) c.4332G>T (p.Leu1444Phe) c.4506G>T (p.Leu1502Phe) c.*2480G>T (n.*2480G>T) c.4173G>T (p.Leu1391Phe) c.588G>T (p.Leu196Phe) c.4230G>T (p.Leu1410Phe) c.4047G>T (p.Leu1349Phe) n.6035G>T c.*2491G>T (n.*2491G>T) c.541G>T c.4095G>T (p.Leu1365Phe) c.505G>T c.3663G>T (p.Leu1221Phe) c.4059G>T (p.Leu1353Phe) c.2268G>T (p.Leu756Phe) c.4710G>T (p.Leu1570Phe) c.4584G>T (p.Leu1528Phe) c.4527G>T (p.Leu1509Phe) c.4254G>T (p.Leu1418Phe) c.4641G>T (p.Leu1547Phe) c.4575G>T (p.Leu1525Phe) c.4515G>T (p.Leu1505Phe) c.4401G>T (p.Leu1467Phe) c.4380G>T (p.Leu1460Phe) c.4245G>T (p.Leu1415Phe) c.4185G>T (p.Leu1395Phe) c.4119G>T (p.Leu1373Phe) c.4116G>T (p.Leu1372Phe) c.4107G>T (p.Leu1369Phe) c.4050G>T (p.Leu1350Phe) c.3933G>T (p.Leu1311Phe) | |
3 | g.77644817A>C | CA434435313 | ROBO2 | c.4243A>C (p.Arg1415=) c.4234A>C (p.Arg1412=) c.4129A>C (p.Arg1377=) c.4321A>C (p.Arg1441=) c.*991A>C (n.*991A>C) c.4333A>C (p.Arg1445=) c.4507A>C (p.Arg1503=) c.*2481A>C (n.*2481A>C) c.4174A>C (p.Arg1392=) c.589A>C (p.Arg197=) c.4231A>C (p.Arg1411=) c.4048A>C (p.Arg1350=) n.6036A>C c.*2492A>C (n.*2492A>C) c.542A>C c.4096A>C (p.Arg1366=) c.506A>C c.3664A>C (p.Arg1222=) c.4060A>C (p.Arg1354=) c.2269A>C (p.Arg757=) c.4711A>C (p.Arg1571=) c.4585A>C (p.Arg1529=) c.4528A>C (p.Arg1510=) c.4255A>C (p.Arg1419=) c.4642A>C (p.Arg1548=) c.4576A>C (p.Arg1526=) c.4516A>C (p.Arg1506=) c.4402A>C (p.Arg1468=) c.4381A>C (p.Arg1461=) c.4246A>C (p.Arg1416=) c.4186A>C (p.Arg1396=) c.4120A>C (p.Arg1374=) c.4117A>C (p.Arg1373=) c.4108A>C (p.Arg1370=) c.4051A>C (p.Arg1351=) c.3934A>C (p.Arg1312=) | |
3 | g.77644817A>G | CA353533621 | ROBO2 | c.4243A>G (p.Arg1415Gly) c.4234A>G (p.Arg1412Gly) c.4129A>G (p.Arg1377Gly) c.4321A>G (p.Arg1441Gly) c.*991A>G (n.*991A>G) c.4333A>G (p.Arg1445Gly) c.4507A>G (p.Arg1503Gly) c.*2481A>G (n.*2481A>G) c.4174A>G (p.Arg1392Gly) c.589A>G (p.Arg197Gly) c.4231A>G (p.Arg1411Gly) c.4048A>G (p.Arg1350Gly) n.6036A>G c.*2492A>G (n.*2492A>G) c.542A>G c.4096A>G (p.Arg1366Gly) c.506A>G c.3664A>G (p.Arg1222Gly) c.4060A>G (p.Arg1354Gly) c.2269A>G (p.Arg757Gly) c.4711A>G (p.Arg1571Gly) c.4585A>G (p.Arg1529Gly) c.4528A>G (p.Arg1510Gly) c.4255A>G (p.Arg1419Gly) c.4642A>G (p.Arg1548Gly) c.4576A>G (p.Arg1526Gly) c.4516A>G (p.Arg1506Gly) c.4402A>G (p.Arg1468Gly) c.4381A>G (p.Arg1461Gly) c.4246A>G (p.Arg1416Gly) c.4186A>G (p.Arg1396Gly) c.4120A>G (p.Arg1374Gly) c.4117A>G (p.Arg1373Gly) c.4108A>G (p.Arg1370Gly) c.4051A>G (p.Arg1351Gly) c.3934A>G (p.Arg1312Gly) | |
3 | g.77644817A>T | CA353533619 | ROBO2 | c.4243A>T (p.Arg1415Ter) c.4234A>T (p.Arg1412Ter) c.4129A>T (p.Arg1377Ter) c.4321A>T (p.Arg1441Ter) c.*991A>T (n.*991A>T) c.4333A>T (p.Arg1445Ter) c.4507A>T (p.Arg1503Ter) c.*2481A>T (n.*2481A>T) c.4174A>T (p.Arg1392Ter) c.589A>T (p.Arg197Ter) c.4231A>T (p.Arg1411Ter) c.4048A>T (p.Arg1350Ter) n.6036A>T c.*2492A>T (n.*2492A>T) c.542A>T c.4096A>T (p.Arg1366Ter) c.506A>T c.3664A>T (p.Arg1222Ter) c.4060A>T (p.Arg1354Ter) c.2269A>T (p.Arg757Ter) c.4711A>T (p.Arg1571Ter) c.4585A>T (p.Arg1529Ter) c.4528A>T (p.Arg1510Ter) c.4255A>T (p.Arg1419Ter) c.4642A>T (p.Arg1548Ter) c.4576A>T (p.Arg1526Ter) c.4516A>T (p.Arg1506Ter) c.4402A>T (p.Arg1468Ter) c.4381A>T (p.Arg1461Ter) c.4246A>T (p.Arg1416Ter) c.4186A>T (p.Arg1396Ter) c.4120A>T (p.Arg1374Ter) c.4117A>T (p.Arg1373Ter) c.4108A>T (p.Arg1370Ter) c.4051A>T (p.Arg1351Ter) c.3934A>T (p.Arg1312Ter) | |
3 | g.77644818G>A | CA353533623 | ROBO2 | c.4244G>A (p.Arg1415Lys) c.4235G>A (p.Arg1412Lys) c.4130G>A (p.Arg1377Lys) c.4322G>A (p.Arg1441Lys) c.*992G>A (n.*992G>A) c.4334G>A (p.Arg1445Lys) c.4508G>A (p.Arg1503Lys) c.*2482G>A (n.*2482G>A) c.4175G>A (p.Arg1392Lys) c.590G>A (p.Arg197Lys) c.4232G>A (p.Arg1411Lys) c.4049G>A (p.Arg1350Lys) n.6037G>A c.*2493G>A (n.*2493G>A) c.543G>A c.4097G>A (p.Arg1366Lys) c.507G>A c.3665G>A (p.Arg1222Lys) c.4061G>A (p.Arg1354Lys) c.2270G>A (p.Arg757Lys) c.4712G>A (p.Arg1571Lys) c.4586G>A (p.Arg1529Lys) c.4529G>A (p.Arg1510Lys) c.4256G>A (p.Arg1419Lys) c.4643G>A (p.Arg1548Lys) c.4577G>A (p.Arg1526Lys) c.4517G>A (p.Arg1506Lys) c.4403G>A (p.Arg1468Lys) c.4382G>A (p.Arg1461Lys) c.4247G>A (p.Arg1416Lys) c.4187G>A (p.Arg1396Lys) c.4121G>A (p.Arg1374Lys) c.4118G>A (p.Arg1373Lys) c.4109G>A (p.Arg1370Lys) c.4052G>A (p.Arg1351Lys) c.3935G>A (p.Arg1312Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.77644818G>C | CA353533627 | ROBO2 | c.4244G>C (p.Arg1415Thr) c.4235G>C (p.Arg1412Thr) c.4130G>C (p.Arg1377Thr) c.4322G>C (p.Arg1441Thr) c.*992G>C (n.*992G>C) c.4334G>C (p.Arg1445Thr) c.4508G>C (p.Arg1503Thr) c.*2482G>C (n.*2482G>C) c.4175G>C (p.Arg1392Thr) c.590G>C (p.Arg197Thr) c.4232G>C (p.Arg1411Thr) c.4049G>C (p.Arg1350Thr) n.6037G>C c.*2493G>C (n.*2493G>C) c.543G>C c.4097G>C (p.Arg1366Thr) c.507G>C c.3665G>C (p.Arg1222Thr) c.4061G>C (p.Arg1354Thr) c.2270G>C (p.Arg757Thr) c.4712G>C (p.Arg1571Thr) c.4586G>C (p.Arg1529Thr) c.4529G>C (p.Arg1510Thr) c.4256G>C (p.Arg1419Thr) c.4643G>C (p.Arg1548Thr) c.4577G>C (p.Arg1526Thr) c.4517G>C (p.Arg1506Thr) c.4403G>C (p.Arg1468Thr) c.4382G>C (p.Arg1461Thr) c.4247G>C (p.Arg1416Thr) c.4187G>C (p.Arg1396Thr) c.4121G>C (p.Arg1374Thr) c.4118G>C (p.Arg1373Thr) c.4109G>C (p.Arg1370Thr) c.4052G>C (p.Arg1351Thr) c.3935G>C (p.Arg1312Thr) | ClinVar gnomAD v4 |
3 | g.77644818G= | CA1376777958 | ROBO2 | c.4244G= (p.Arg1415=) c.4235G= (p.Arg1412=) c.4130G= (p.Arg1377=) c.4322G= (p.Arg1441=) c.*992G= (n.*992G=) c.4334G= (p.Arg1445=) c.4508G= (p.Arg1503=) c.*2482G= (n.*2482G=) c.4175G= (p.Arg1392=) c.590G= (p.Arg197=) c.4232G= (p.Arg1411=) c.4049G= (p.Arg1350=) n.6037G= c.*2493G= (n.*2493G=) c.543G= c.4097G= (p.Arg1366=) c.507G= c.3665G= (p.Arg1222=) c.4061G= (p.Arg1354=) c.2270G= (p.Arg757=) c.4712G= (p.Arg1571=) c.4586G= (p.Arg1529=) c.4529G= (p.Arg1510=) c.4256G= (p.Arg1419=) c.4643G= (p.Arg1548=) c.4577G= (p.Arg1526=) c.4517G= (p.Arg1506=) c.4403G= (p.Arg1468=) c.4382G= (p.Arg1461=) c.4247G= (p.Arg1416=) c.4187G= (p.Arg1396=) c.4121G= (p.Arg1374=) c.4118G= (p.Arg1373=) c.4109G= (p.Arg1370=) c.4052G= (p.Arg1351=) c.3935G= (p.Arg1312=) | |
3 | g.77644818G>T | CA353533625 | ROBO2 | c.4244G>T (p.Arg1415Ile) c.4235G>T (p.Arg1412Ile) c.4130G>T (p.Arg1377Ile) c.4322G>T (p.Arg1441Ile) c.*992G>T (n.*992G>T) c.4334G>T (p.Arg1445Ile) c.4508G>T (p.Arg1503Ile) c.*2482G>T (n.*2482G>T) c.4175G>T (p.Arg1392Ile) c.590G>T (p.Arg197Ile) c.4232G>T (p.Arg1411Ile) c.4049G>T (p.Arg1350Ile) n.6037G>T c.*2493G>T (n.*2493G>T) c.543G>T c.4097G>T (p.Arg1366Ile) c.507G>T c.3665G>T (p.Arg1222Ile) c.4061G>T (p.Arg1354Ile) c.2270G>T (p.Arg757Ile) c.4712G>T (p.Arg1571Ile) c.4586G>T (p.Arg1529Ile) c.4529G>T (p.Arg1510Ile) c.4256G>T (p.Arg1419Ile) c.4643G>T (p.Arg1548Ile) c.4577G>T (p.Arg1526Ile) c.4517G>T (p.Arg1506Ile) c.4403G>T (p.Arg1468Ile) c.4382G>T (p.Arg1461Ile) c.4247G>T (p.Arg1416Ile) c.4187G>T (p.Arg1396Ile) c.4121G>T (p.Arg1374Ile) c.4118G>T (p.Arg1373Ile) c.4109G>T (p.Arg1370Ile) c.4052G>T (p.Arg1351Ile) c.3935G>T (p.Arg1312Ile) | |
3 | g.77644819A>C | CA353533629 | ROBO2 | c.4245A>C (p.Arg1415Ser) c.4236A>C (p.Arg1412Ser) c.4131A>C (p.Arg1377Ser) c.4323A>C (p.Arg1441Ser) c.*993A>C (n.*993A>C) c.4335A>C (p.Arg1445Ser) c.4509A>C (p.Arg1503Ser) c.*2483A>C (n.*2483A>C) c.4176A>C (p.Arg1392Ser) c.591A>C (p.Arg197Ser) c.4233A>C (p.Arg1411Ser) c.4050A>C (p.Arg1350Ser) n.6038A>C c.*2494A>C (n.*2494A>C) c.544A>C c.4098A>C (p.Arg1366Ser) c.508A>C c.3666A>C (p.Arg1222Ser) c.4062A>C (p.Arg1354Ser) c.2271A>C (p.Arg757Ser) c.4713A>C (p.Arg1571Ser) c.4587A>C (p.Arg1529Ser) c.4530A>C (p.Arg1510Ser) c.4257A>C (p.Arg1419Ser) c.4644A>C (p.Arg1548Ser) c.4578A>C (p.Arg1526Ser) c.4518A>C (p.Arg1506Ser) c.4404A>C (p.Arg1468Ser) c.4383A>C (p.Arg1461Ser) c.4248A>C (p.Arg1416Ser) c.4188A>C (p.Arg1396Ser) c.4122A>C (p.Arg1374Ser) c.4119A>C (p.Arg1373Ser) c.4110A>C (p.Arg1370Ser) c.4053A>C (p.Arg1351Ser) c.3936A>C (p.Arg1312Ser) | |
3 | g.77644819A>G | CA434435314 | ROBO2 | c.4245A>G (p.Arg1415=) c.4236A>G (p.Arg1412=) c.4131A>G (p.Arg1377=) c.4323A>G (p.Arg1441=) c.*993A>G (n.*993A>G) c.4335A>G (p.Arg1445=) c.4509A>G (p.Arg1503=) c.*2483A>G (n.*2483A>G) c.4176A>G (p.Arg1392=) c.591A>G (p.Arg197=) c.4233A>G (p.Arg1411=) c.4050A>G (p.Arg1350=) n.6038A>G c.*2494A>G (n.*2494A>G) c.544A>G c.4098A>G (p.Arg1366=) c.508A>G c.3666A>G (p.Arg1222=) c.4062A>G (p.Arg1354=) c.2271A>G (p.Arg757=) c.4713A>G (p.Arg1571=) c.4587A>G (p.Arg1529=) c.4530A>G (p.Arg1510=) c.4257A>G (p.Arg1419=) c.4644A>G (p.Arg1548=) c.4578A>G (p.Arg1526=) c.4518A>G (p.Arg1506=) c.4404A>G (p.Arg1468=) c.4383A>G (p.Arg1461=) c.4248A>G (p.Arg1416=) c.4188A>G (p.Arg1396=) c.4122A>G (p.Arg1374=) c.4119A>G (p.Arg1373=) c.4110A>G (p.Arg1370=) c.4053A>G (p.Arg1351=) c.3936A>G (p.Arg1312=) | |
3 | g.77644819A>T | CA353533630 | ROBO2 | c.4245A>T (p.Arg1415Ser) c.4236A>T (p.Arg1412Ser) c.4131A>T (p.Arg1377Ser) c.4323A>T (p.Arg1441Ser) c.*993A>T (n.*993A>T) c.4335A>T (p.Arg1445Ser) c.4509A>T (p.Arg1503Ser) c.*2483A>T (n.*2483A>T) c.4176A>T (p.Arg1392Ser) c.591A>T (p.Arg197Ser) c.4233A>T (p.Arg1411Ser) c.4050A>T (p.Arg1350Ser) n.6038A>T c.*2494A>T (n.*2494A>T) c.544A>T c.4098A>T (p.Arg1366Ser) c.508A>T c.3666A>T (p.Arg1222Ser) c.4062A>T (p.Arg1354Ser) c.2271A>T (p.Arg757Ser) c.4713A>T (p.Arg1571Ser) c.4587A>T (p.Arg1529Ser) c.4530A>T (p.Arg1510Ser) c.4257A>T (p.Arg1419Ser) c.4644A>T (p.Arg1548Ser) c.4578A>T (p.Arg1526Ser) c.4518A>T (p.Arg1506Ser) c.4404A>T (p.Arg1468Ser) c.4383A>T (p.Arg1461Ser) c.4248A>T (p.Arg1416Ser) c.4188A>T (p.Arg1396Ser) c.4122A>T (p.Arg1374Ser) c.4119A>T (p.Arg1373Ser) c.4110A>T (p.Arg1370Ser) c.4053A>T (p.Arg1351Ser) c.3936A>T (p.Arg1312Ser) | |
3 | g.77644820G>A | CA353533633 | ROBO2 | c.4246G>A (p.Ala1416Thr) c.4237G>A (p.Ala1413Thr) c.4132G>A (p.Ala1378Thr) c.4324G>A (p.Ala1442Thr) c.*994G>A (n.*994G>A) c.4336G>A (p.Ala1446Thr) c.4510G>A (p.Ala1504Thr) c.*2484G>A (n.*2484G>A) c.4177G>A (p.Ala1393Thr) c.592G>A (p.Ala198Thr) c.4234G>A (p.Ala1412Thr) c.4051G>A (p.Ala1351Thr) n.6039G>A c.*2495G>A (n.*2495G>A) c.545G>A c.4099G>A (p.Ala1367Thr) c.509G>A c.3667G>A (p.Ala1223Thr) c.4063G>A (p.Ala1355Thr) c.2272G>A (p.Ala758Thr) c.4714G>A (p.Ala1572Thr) c.4588G>A (p.Ala1530Thr) c.4531G>A (p.Ala1511Thr) c.4258G>A (p.Ala1420Thr) c.4645G>A (p.Ala1549Thr) c.4579G>A (p.Ala1527Thr) c.4519G>A (p.Ala1507Thr) c.4405G>A (p.Ala1469Thr) c.4384G>A (p.Ala1462Thr) c.4249G>A (p.Ala1417Thr) c.4189G>A (p.Ala1397Thr) c.4123G>A (p.Ala1375Thr) c.4120G>A (p.Ala1374Thr) c.4111G>A (p.Ala1371Thr) c.4054G>A (p.Ala1352Thr) c.3937G>A (p.Ala1313Thr) | gnomAD v4 |
3 | g.77644820G>C | CA353533635 | ROBO2 | c.4246G>C (p.Ala1416Pro) c.4237G>C (p.Ala1413Pro) c.4132G>C (p.Ala1378Pro) c.4324G>C (p.Ala1442Pro) c.*994G>C (n.*994G>C) c.4336G>C (p.Ala1446Pro) c.4510G>C (p.Ala1504Pro) c.*2484G>C (n.*2484G>C) c.4177G>C (p.Ala1393Pro) c.592G>C (p.Ala198Pro) c.4234G>C (p.Ala1412Pro) c.4051G>C (p.Ala1351Pro) n.6039G>C c.*2495G>C (n.*2495G>C) c.545G>C c.4099G>C (p.Ala1367Pro) c.509G>C c.3667G>C (p.Ala1223Pro) c.4063G>C (p.Ala1355Pro) c.2272G>C (p.Ala758Pro) c.4714G>C (p.Ala1572Pro) c.4588G>C (p.Ala1530Pro) c.4531G>C (p.Ala1511Pro) c.4258G>C (p.Ala1420Pro) c.4645G>C (p.Ala1549Pro) c.4579G>C (p.Ala1527Pro) c.4519G>C (p.Ala1507Pro) c.4405G>C (p.Ala1469Pro) c.4384G>C (p.Ala1462Pro) c.4249G>C (p.Ala1417Pro) c.4189G>C (p.Ala1397Pro) c.4123G>C (p.Ala1375Pro) c.4120G>C (p.Ala1374Pro) c.4111G>C (p.Ala1371Pro) c.4054G>C (p.Ala1352Pro) c.3937G>C (p.Ala1313Pro) | |
3 | g.77644820G>T | CA353533636 | ROBO2 | c.4246G>T (p.Ala1416Ser) c.4237G>T (p.Ala1413Ser) c.4132G>T (p.Ala1378Ser) c.4324G>T (p.Ala1442Ser) c.*994G>T (n.*994G>T) c.4336G>T (p.Ala1446Ser) c.4510G>T (p.Ala1504Ser) c.*2484G>T (n.*2484G>T) c.4177G>T (p.Ala1393Ser) c.592G>T (p.Ala198Ser) c.4234G>T (p.Ala1412Ser) c.4051G>T (p.Ala1351Ser) n.6039G>T c.*2495G>T (n.*2495G>T) c.545G>T c.4099G>T (p.Ala1367Ser) c.509G>T c.3667G>T (p.Ala1223Ser) c.4063G>T (p.Ala1355Ser) c.2272G>T (p.Ala758Ser) c.4714G>T (p.Ala1572Ser) c.4588G>T (p.Ala1530Ser) c.4531G>T (p.Ala1511Ser) c.4258G>T (p.Ala1420Ser) c.4645G>T (p.Ala1549Ser) c.4579G>T (p.Ala1527Ser) c.4519G>T (p.Ala1507Ser) c.4405G>T (p.Ala1469Ser) c.4384G>T (p.Ala1462Ser) c.4249G>T (p.Ala1417Ser) c.4189G>T (p.Ala1397Ser) c.4123G>T (p.Ala1375Ser) c.4120G>T (p.Ala1374Ser) c.4111G>T (p.Ala1371Ser) c.4054G>T (p.Ala1352Ser) c.3937G>T (p.Ala1313Ser) | |
3 | g.77644821C>A | CA353533639 | ROBO2 | c.4247C>A (p.Ala1416Glu) c.4238C>A (p.Ala1413Glu) c.4133C>A (p.Ala1378Glu) c.4325C>A (p.Ala1442Glu) c.*995C>A (n.*995C>A) c.4337C>A (p.Ala1446Glu) c.4511C>A (p.Ala1504Glu) c.*2485C>A (n.*2485C>A) c.4178C>A (p.Ala1393Glu) c.593C>A (p.Ala198Glu) c.4235C>A (p.Ala1412Glu) c.4052C>A (p.Ala1351Glu) n.6040C>A c.*2496C>A (n.*2496C>A) c.546C>A c.4100C>A (p.Ala1367Glu) c.510C>A c.3668C>A (p.Ala1223Glu) c.4064C>A (p.Ala1355Glu) c.2273C>A (p.Ala758Glu) c.4715C>A (p.Ala1572Glu) c.4589C>A (p.Ala1530Glu) c.4532C>A (p.Ala1511Glu) c.4259C>A (p.Ala1420Glu) c.4646C>A (p.Ala1549Glu) c.4580C>A (p.Ala1527Glu) c.4520C>A (p.Ala1507Glu) c.4406C>A (p.Ala1469Glu) c.4385C>A (p.Ala1462Glu) c.4250C>A (p.Ala1417Glu) c.4190C>A (p.Ala1397Glu) c.4124C>A (p.Ala1375Glu) c.4121C>A (p.Ala1374Glu) c.4112C>A (p.Ala1371Glu) c.4055C>A (p.Ala1352Glu) c.3938C>A (p.Ala1313Glu) | COSMIC COSMIC |
3 | g.77644821C>G | CA353533640 | ROBO2 | c.4247C>G (p.Ala1416Gly) c.4238C>G (p.Ala1413Gly) c.4133C>G (p.Ala1378Gly) c.4325C>G (p.Ala1442Gly) c.*995C>G (n.*995C>G) c.4337C>G (p.Ala1446Gly) c.4511C>G (p.Ala1504Gly) c.*2485C>G (n.*2485C>G) c.4178C>G (p.Ala1393Gly) c.593C>G (p.Ala198Gly) c.4235C>G (p.Ala1412Gly) c.4052C>G (p.Ala1351Gly) n.6040C>G c.*2496C>G (n.*2496C>G) c.546C>G c.4100C>G (p.Ala1367Gly) c.510C>G c.3668C>G (p.Ala1223Gly) c.4064C>G (p.Ala1355Gly) c.2273C>G (p.Ala758Gly) c.4715C>G (p.Ala1572Gly) c.4589C>G (p.Ala1530Gly) c.4532C>G (p.Ala1511Gly) c.4259C>G (p.Ala1420Gly) c.4646C>G (p.Ala1549Gly) c.4580C>G (p.Ala1527Gly) c.4520C>G (p.Ala1507Gly) c.4406C>G (p.Ala1469Gly) c.4385C>G (p.Ala1462Gly) c.4250C>G (p.Ala1417Gly) c.4190C>G (p.Ala1397Gly) c.4124C>G (p.Ala1375Gly) c.4121C>G (p.Ala1374Gly) c.4112C>G (p.Ala1371Gly) c.4055C>G (p.Ala1352Gly) c.3938C>G (p.Ala1313Gly) | |
3 | g.77644821C>T | CA353533641 | ROBO2 | c.4247C>T (p.Ala1416Val) c.4238C>T (p.Ala1413Val) c.4133C>T (p.Ala1378Val) c.4325C>T (p.Ala1442Val) c.*995C>T (n.*995C>T) c.4337C>T (p.Ala1446Val) c.4511C>T (p.Ala1504Val) c.*2485C>T (n.*2485C>T) c.4178C>T (p.Ala1393Val) c.593C>T (p.Ala198Val) c.4235C>T (p.Ala1412Val) c.4052C>T (p.Ala1351Val) n.6040C>T c.*2496C>T (n.*2496C>T) c.546C>T c.4100C>T (p.Ala1367Val) c.510C>T c.3668C>T (p.Ala1223Val) c.4064C>T (p.Ala1355Val) c.2273C>T (p.Ala758Val) c.4715C>T (p.Ala1572Val) c.4589C>T (p.Ala1530Val) c.4532C>T (p.Ala1511Val) c.4259C>T (p.Ala1420Val) c.4646C>T (p.Ala1549Val) c.4580C>T (p.Ala1527Val) c.4520C>T (p.Ala1507Val) c.4406C>T (p.Ala1469Val) c.4385C>T (p.Ala1462Val) c.4250C>T (p.Ala1417Val) c.4190C>T (p.Ala1397Val) c.4124C>T (p.Ala1375Val) c.4121C>T (p.Ala1374Val) c.4112C>T (p.Ala1371Val) c.4055C>T (p.Ala1352Val) c.3938C>T (p.Ala1313Val) | |
3 | g.77644822A= | CA1376777959 | ROBO2 | c.4248A= (p.Ala1416=) c.4239A= (p.Ala1413=) c.4134A= (p.Ala1378=) c.4326A= (p.Ala1442=) c.*996A= (n.*996A=) c.4338A= (p.Ala1446=) c.4512A= (p.Ala1504=) c.*2486A= (n.*2486A=) c.4179A= (p.Ala1393=) c.594A= (p.Ala198=) c.4236A= (p.Ala1412=) c.4053A= (p.Ala1351=) n.6041A= c.*2497A= (n.*2497A=) c.547A= c.4101A= (p.Ala1367=) c.511A= c.3669A= (p.Ala1223=) c.4065A= (p.Ala1355=) c.2274A= (p.Ala758=) c.4716A= (p.Ala1572=) c.4590A= (p.Ala1530=) c.4533A= (p.Ala1511=) c.4260A= (p.Ala1420=) c.4647A= (p.Ala1549=) c.4581A= (p.Ala1527=) c.4521A= (p.Ala1507=) c.4407A= (p.Ala1469=) c.4386A= (p.Ala1462=) c.4251A= (p.Ala1417=) c.4191A= (p.Ala1397=) c.4125A= (p.Ala1375=) c.4122A= (p.Ala1374=) c.4113A= (p.Ala1371=) c.4056A= (p.Ala1352=) c.3939A= (p.Ala1313=) | |
3 | g.77644822A>C | CA434435315 | ROBO2 | c.4248A>C (p.Ala1416=) c.4239A>C (p.Ala1413=) c.4134A>C (p.Ala1378=) c.4326A>C (p.Ala1442=) c.*996A>C (n.*996A>C) c.4338A>C (p.Ala1446=) c.4512A>C (p.Ala1504=) c.*2486A>C (n.*2486A>C) c.4179A>C (p.Ala1393=) c.594A>C (p.Ala198=) c.4236A>C (p.Ala1412=) c.4053A>C (p.Ala1351=) n.6041A>C c.*2497A>C (n.*2497A>C) c.547A>C c.4101A>C (p.Ala1367=) c.511A>C c.3669A>C (p.Ala1223=) c.4065A>C (p.Ala1355=) c.2274A>C (p.Ala758=) c.4716A>C (p.Ala1572=) c.4590A>C (p.Ala1530=) c.4533A>C (p.Ala1511=) c.4260A>C (p.Ala1420=) c.4647A>C (p.Ala1549=) c.4581A>C (p.Ala1527=) c.4521A>C (p.Ala1507=) c.4407A>C (p.Ala1469=) c.4386A>C (p.Ala1462=) c.4251A>C (p.Ala1417=) c.4191A>C (p.Ala1397=) c.4125A>C (p.Ala1375=) c.4122A>C (p.Ala1374=) c.4113A>C (p.Ala1371=) c.4056A>C (p.Ala1352=) c.3939A>C (p.Ala1313=) | |
3 | g.77644822A>G | CA434435316 | ROBO2 | c.4248A>G (p.Ala1416=) c.4239A>G (p.Ala1413=) c.4134A>G (p.Ala1378=) c.4326A>G (p.Ala1442=) c.*996A>G (n.*996A>G) c.4338A>G (p.Ala1446=) c.4512A>G (p.Ala1504=) c.*2486A>G (n.*2486A>G) c.4179A>G (p.Ala1393=) c.594A>G (p.Ala198=) c.4236A>G (p.Ala1412=) c.4053A>G (p.Ala1351=) n.6041A>G c.*2497A>G (n.*2497A>G) c.547A>G c.4101A>G (p.Ala1367=) c.511A>G c.3669A>G (p.Ala1223=) c.4065A>G (p.Ala1355=) c.2274A>G (p.Ala758=) c.4716A>G (p.Ala1572=) c.4590A>G (p.Ala1530=) c.4533A>G (p.Ala1511=) c.4260A>G (p.Ala1420=) c.4647A>G (p.Ala1549=) c.4581A>G (p.Ala1527=) c.4521A>G (p.Ala1507=) c.4407A>G (p.Ala1469=) c.4386A>G (p.Ala1462=) c.4251A>G (p.Ala1417=) c.4191A>G (p.Ala1397=) c.4125A>G (p.Ala1375=) c.4122A>G (p.Ala1374=) c.4113A>G (p.Ala1371=) c.4056A>G (p.Ala1352=) c.3939A>G (p.Ala1313=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.77644822A>T | CA434435317 | ROBO2 | c.4248A>T (p.Ala1416=) c.4239A>T (p.Ala1413=) c.4134A>T (p.Ala1378=) c.4326A>T (p.Ala1442=) c.*996A>T (n.*996A>T) c.4338A>T (p.Ala1446=) c.4512A>T (p.Ala1504=) c.*2486A>T (n.*2486A>T) c.4179A>T (p.Ala1393=) c.594A>T (p.Ala198=) c.4236A>T (p.Ala1412=) c.4053A>T (p.Ala1351=) n.6041A>T c.*2497A>T (n.*2497A>T) c.547A>T c.4101A>T (p.Ala1367=) c.511A>T c.3669A>T (p.Ala1223=) c.4065A>T (p.Ala1355=) c.2274A>T (p.Ala758=) c.4716A>T (p.Ala1572=) c.4590A>T (p.Ala1530=) c.4533A>T (p.Ala1511=) c.4260A>T (p.Ala1420=) c.4647A>T (p.Ala1549=) c.4581A>T (p.Ala1527=) c.4521A>T (p.Ala1507=) c.4407A>T (p.Ala1469=) c.4386A>T (p.Ala1462=) c.4251A>T (p.Ala1417=) c.4191A>T (p.Ala1397=) c.4125A>T (p.Ala1375=) c.4122A>T (p.Ala1374=) c.4113A>T (p.Ala1371=) c.4056A>T (p.Ala1352=) c.3939A>T (p.Ala1313=) | |
3 | g.77644823G>A | CA353533643 | ROBO2 | c.4249G>A (p.Gly1417Ser) c.4240G>A (p.Gly1414Ser) c.4135G>A (p.Gly1379Ser) c.4327G>A (p.Gly1443Ser) c.*997G>A (n.*997G>A) c.4339G>A (p.Gly1447Ser) c.4513G>A (p.Gly1505Ser) c.*2487G>A (n.*2487G>A) c.4180G>A (p.Gly1394Ser) c.595G>A (p.Gly199Ser) c.4237G>A (p.Gly1413Ser) c.4054G>A (p.Gly1352Ser) n.6042G>A c.*2498G>A (n.*2498G>A) c.548G>A c.4102G>A (p.Gly1368Ser) c.512G>A c.3670G>A (p.Gly1224Ser) c.4066G>A (p.Gly1356Ser) c.2275G>A (p.Gly759Ser) c.4717G>A (p.Gly1573Ser) c.4591G>A (p.Gly1531Ser) c.4534G>A (p.Gly1512Ser) c.4261G>A (p.Gly1421Ser) c.4648G>A (p.Gly1550Ser) c.4582G>A (p.Gly1528Ser) c.4522G>A (p.Gly1508Ser) c.4408G>A (p.Gly1470Ser) c.4387G>A (p.Gly1463Ser) c.4252G>A (p.Gly1418Ser) c.4192G>A (p.Gly1398Ser) c.4126G>A (p.Gly1376Ser) c.4123G>A (p.Gly1375Ser) c.4114G>A (p.Gly1372Ser) c.4057G>A (p.Gly1353Ser) c.3940G>A (p.Gly1314Ser) | |
3 | g.77644823G>C | CA353533645 | ROBO2 | c.4249G>C (p.Gly1417Arg) c.4240G>C (p.Gly1414Arg) c.4135G>C (p.Gly1379Arg) c.4327G>C (p.Gly1443Arg) c.*997G>C (n.*997G>C) c.4339G>C (p.Gly1447Arg) c.4513G>C (p.Gly1505Arg) c.*2487G>C (n.*2487G>C) c.4180G>C (p.Gly1394Arg) c.595G>C (p.Gly199Arg) c.4237G>C (p.Gly1413Arg) c.4054G>C (p.Gly1352Arg) n.6042G>C c.*2498G>C (n.*2498G>C) c.548G>C c.4102G>C (p.Gly1368Arg) c.512G>C c.3670G>C (p.Gly1224Arg) c.4066G>C (p.Gly1356Arg) c.2275G>C (p.Gly759Arg) c.4717G>C (p.Gly1573Arg) c.4591G>C (p.Gly1531Arg) c.4534G>C (p.Gly1512Arg) c.4261G>C (p.Gly1421Arg) c.4648G>C (p.Gly1550Arg) c.4582G>C (p.Gly1528Arg) c.4522G>C (p.Gly1508Arg) c.4408G>C (p.Gly1470Arg) c.4387G>C (p.Gly1463Arg) c.4252G>C (p.Gly1418Arg) c.4192G>C (p.Gly1398Arg) c.4126G>C (p.Gly1376Arg) c.4123G>C (p.Gly1375Arg) c.4114G>C (p.Gly1372Arg) c.4057G>C (p.Gly1353Arg) c.3940G>C (p.Gly1314Arg) | |
3 | g.77644823G>T | CA353533647 | ROBO2 | c.4249G>T (p.Gly1417Cys) c.4240G>T (p.Gly1414Cys) c.4135G>T (p.Gly1379Cys) c.4327G>T (p.Gly1443Cys) c.*997G>T (n.*997G>T) c.4339G>T (p.Gly1447Cys) c.4513G>T (p.Gly1505Cys) c.*2487G>T (n.*2487G>T) c.4180G>T (p.Gly1394Cys) c.595G>T (p.Gly199Cys) c.4237G>T (p.Gly1413Cys) c.4054G>T (p.Gly1352Cys) n.6042G>T c.*2498G>T (n.*2498G>T) c.548G>T c.4102G>T (p.Gly1368Cys) c.512G>T c.3670G>T (p.Gly1224Cys) c.4066G>T (p.Gly1356Cys) c.2275G>T (p.Gly759Cys) c.4717G>T (p.Gly1573Cys) c.4591G>T (p.Gly1531Cys) c.4534G>T (p.Gly1512Cys) c.4261G>T (p.Gly1421Cys) c.4648G>T (p.Gly1550Cys) c.4582G>T (p.Gly1528Cys) c.4522G>T (p.Gly1508Cys) c.4408G>T (p.Gly1470Cys) c.4387G>T (p.Gly1463Cys) c.4252G>T (p.Gly1418Cys) c.4192G>T (p.Gly1398Cys) c.4126G>T (p.Gly1376Cys) c.4123G>T (p.Gly1375Cys) c.4114G>T (p.Gly1372Cys) c.4057G>T (p.Gly1353Cys) c.3940G>T (p.Gly1314Cys) | |
3 | g.77644824G>A | CA2497831 | ROBO2 | c.4250G>A (p.Gly1417Asp) c.4241G>A (p.Gly1414Asp) c.4136G>A (p.Gly1379Asp) c.4328G>A (p.Gly1443Asp) c.*998G>A (n.*998G>A) c.4340G>A (p.Gly1447Asp) c.4514G>A (p.Gly1505Asp) c.*2488G>A (n.*2488G>A) c.4181G>A (p.Gly1394Asp) c.596G>A (p.Gly199Asp) c.4238G>A (p.Gly1413Asp) c.4055G>A (p.Gly1352Asp) n.6043G>A c.*2499G>A (n.*2499G>A) c.549G>A c.4103G>A (p.Gly1368Asp) c.513G>A c.3671G>A (p.Gly1224Asp) c.4067G>A (p.Gly1356Asp) c.2276G>A (p.Gly759Asp) c.4718G>A (p.Gly1573Asp) c.4592G>A (p.Gly1531Asp) c.4535G>A (p.Gly1512Asp) c.4262G>A (p.Gly1421Asp) c.4649G>A (p.Gly1550Asp) c.4583G>A (p.Gly1528Asp) c.4523G>A (p.Gly1508Asp) c.4409G>A (p.Gly1470Asp) c.4388G>A (p.Gly1463Asp) c.4253G>A (p.Gly1418Asp) c.4193G>A (p.Gly1398Asp) c.4127G>A (p.Gly1376Asp) c.4124G>A (p.Gly1375Asp) c.4115G>A (p.Gly1372Asp) c.4058G>A (p.Gly1353Asp) c.3941G>A (p.Gly1314Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.77644824G>C | CA353533651 | ROBO2 | c.4250G>C (p.Gly1417Ala) c.4241G>C (p.Gly1414Ala) c.4136G>C (p.Gly1379Ala) c.4328G>C (p.Gly1443Ala) c.*998G>C (n.*998G>C) c.4340G>C (p.Gly1447Ala) c.4514G>C (p.Gly1505Ala) c.*2488G>C (n.*2488G>C) c.4181G>C (p.Gly1394Ala) c.596G>C (p.Gly199Ala) c.4238G>C (p.Gly1413Ala) c.4055G>C (p.Gly1352Ala) n.6043G>C c.*2499G>C (n.*2499G>C) c.549G>C c.4103G>C (p.Gly1368Ala) c.513G>C c.3671G>C (p.Gly1224Ala) c.4067G>C (p.Gly1356Ala) c.2276G>C (p.Gly759Ala) c.4718G>C (p.Gly1573Ala) c.4592G>C (p.Gly1531Ala) c.4535G>C (p.Gly1512Ala) c.4262G>C (p.Gly1421Ala) c.4649G>C (p.Gly1550Ala) c.4583G>C (p.Gly1528Ala) c.4523G>C (p.Gly1508Ala) c.4409G>C (p.Gly1470Ala) c.4388G>C (p.Gly1463Ala) c.4253G>C (p.Gly1418Ala) c.4193G>C (p.Gly1398Ala) c.4127G>C (p.Gly1376Ala) c.4124G>C (p.Gly1375Ala) c.4115G>C (p.Gly1372Ala) c.4058G>C (p.Gly1353Ala) c.3941G>C (p.Gly1314Ala) | |
3 | g.77644824G= | CA1376777960 | ROBO2 | c.4250G= (p.Gly1417=) c.4241G= (p.Gly1414=) c.4136G= (p.Gly1379=) c.4328G= (p.Gly1443=) c.*998G= (n.*998G=) c.4340G= (p.Gly1447=) c.4514G= (p.Gly1505=) c.*2488G= (n.*2488G=) c.4181G= (p.Gly1394=) c.596G= (p.Gly199=) c.4238G= (p.Gly1413=) c.4055G= (p.Gly1352=) n.6043G= c.*2499G= (n.*2499G=) c.549G= c.4103G= (p.Gly1368=) c.513G= c.3671G= (p.Gly1224=) c.4067G= (p.Gly1356=) c.2276G= (p.Gly759=) c.4718G= (p.Gly1573=) c.4592G= (p.Gly1531=) c.4535G= (p.Gly1512=) c.4262G= (p.Gly1421=) c.4649G= (p.Gly1550=) c.4583G= (p.Gly1528=) c.4523G= (p.Gly1508=) c.4409G= (p.Gly1470=) c.4388G= (p.Gly1463=) c.4253G= (p.Gly1418=) c.4193G= (p.Gly1398=) c.4127G= (p.Gly1376=) c.4124G= (p.Gly1375=) c.4115G= (p.Gly1372=) c.4058G= (p.Gly1353=) c.3941G= (p.Gly1314=) | |
3 | g.77644824G>T | CA353533650 | ROBO2 | c.4250G>T (p.Gly1417Val) c.4241G>T (p.Gly1414Val) c.4136G>T (p.Gly1379Val) c.4328G>T (p.Gly1443Val) c.*998G>T (n.*998G>T) c.4340G>T (p.Gly1447Val) c.4514G>T (p.Gly1505Val) c.*2488G>T (n.*2488G>T) c.4181G>T (p.Gly1394Val) c.596G>T (p.Gly199Val) c.4238G>T (p.Gly1413Val) c.4055G>T (p.Gly1352Val) n.6043G>T c.*2499G>T (n.*2499G>T) c.549G>T c.4103G>T (p.Gly1368Val) c.513G>T c.3671G>T (p.Gly1224Val) c.4067G>T (p.Gly1356Val) c.2276G>T (p.Gly759Val) c.4718G>T (p.Gly1573Val) c.4592G>T (p.Gly1531Val) c.4535G>T (p.Gly1512Val) c.4262G>T (p.Gly1421Val) c.4649G>T (p.Gly1550Val) c.4583G>T (p.Gly1528Val) c.4523G>T (p.Gly1508Val) c.4409G>T (p.Gly1470Val) c.4388G>T (p.Gly1463Val) c.4253G>T (p.Gly1418Val) c.4193G>T (p.Gly1398Val) c.4127G>T (p.Gly1376Val) c.4124G>T (p.Gly1375Val) c.4115G>T (p.Gly1372Val) c.4058G>T (p.Gly1353Val) c.3941G>T (p.Gly1314Val) | |
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) |