UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.124872919G>A | CA383142356 | ROBO3 | c.1366G>A (p.Gly456Arg) c.1300G>A (p.Gly434Arg) c.2338G>A (p.Gly780Arg) | dbSNP |
| 11 | g.124872919G>C | CA383142358 | ROBO3 | c.1366G>C (p.Gly456Arg) c.1300G>C (p.Gly434Arg) c.2338G>C (p.Gly780Arg) | gnomAD v4 |
| 11 | g.124872919G= | CA2006416402 | ROBO3 | c.1366G= (p.Gly456=) c.1300G= (p.Gly434=) c.2338G= (p.Gly780=) | |
| 11 | g.124872919G>T | CA115386 | ROBO3 | c.1366G>T (p.Gly456Ter) c.1300G>T (p.Gly434Ter) c.2338G>T (p.Gly780Ter) | ClinVar dbSNP |
| 11 | g.124872920G>A | CA383142363 | ROBO3 | c.1367G>A (p.Gly456Glu) c.1301G>A (p.Gly434Glu) c.2339G>A (p.Gly780Glu) | dbSNP COSMIC COSMIC |
| 11 | g.124872920G>C | CA383142361 | ROBO3 | c.1367G>C (p.Gly456Ala) c.1301G>C (p.Gly434Ala) c.2339G>C (p.Gly780Ala) | dbSNP |
| 11 | g.124872920G>T | CA383142359 | ROBO3 | c.1367G>T (p.Gly456Val) c.1301G>T (p.Gly434Val) c.2339G>T (p.Gly780Val) | dbSNP |
| 11 | g.124872921A= | CA2006416403 | ROBO3 | c.1368A= (p.Gly456=) c.1302A= (p.Gly434=) c.2340A= (p.Gly780=) | |
| 11 | g.124872921A>C | CA477449365 | ROBO3 | c.1368A>C (p.Gly456=) c.1302A>C (p.Gly434=) c.2340A>C (p.Gly780=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.124872921A>G | CA477449363 | ROBO3 | c.1368A>G (p.Gly456=) c.1302A>G (p.Gly434=) c.2340A>G (p.Gly780=) | |
| 11 | g.124872921A>T | CA477449364 | ROBO3 | c.1368A>T (p.Gly456=) c.1302A>T (p.Gly434=) c.2340A>T (p.Gly780=) | |
| 11 | g.124872922C>A | CA383142364 | ROBO3 | c.1369C>A (p.Pro457Thr) c.1303C>A (p.Pro435Thr) c.2341C>A (p.Pro781Thr) | |
| 11 | g.124872922C= | CA2006416404 | ROBO3 | c.1369C= (p.Pro457=) c.1303C= (p.Pro435=) c.2341C= (p.Pro781=) | |
| 11 | g.124872922C>G | CA230389544 | ROBO3 | c.1369C>G (p.Pro457Ala) c.1303C>G (p.Pro435Ala) c.2341C>G (p.Pro781Ala) | dbSNP gnomAD v4 |
| 11 | g.124872922C>T | CA383142366 | ROBO3 | c.1369C>T (p.Pro457Ser) c.1303C>T (p.Pro435Ser) c.2341C>T (p.Pro781Ser) | |
| 11 | g.124872923C>A | CA383142368 | ROBO3 | c.1370C>A (p.Pro457Gln) c.1304C>A (p.Pro435Gln) c.2342C>A (p.Pro781Gln) | |
| 11 | g.124872923C>G | CA383142369 | ROBO3 | c.1370C>G (p.Pro457Arg) c.1304C>G (p.Pro435Arg) c.2342C>G (p.Pro781Arg) | |
| 11 | g.124872923C>T | CA383142370 | ROBO3 | c.1370C>T (p.Pro457Leu) c.1304C>T (p.Pro435Leu) c.2342C>T (p.Pro781Leu) | dbSNP gnomAD v4 |
| 11 | g.124872924A= | CA2006416405 | ROBO3 | c.1371A= (p.Pro457=) c.1305A= (p.Pro435=) c.2343A= (p.Pro781=) | |
| 11 | g.124872924A>C | CA477449366 | ROBO3 | c.1371A>C (p.Pro457=) c.1305A>C (p.Pro435=) c.2343A>C (p.Pro781=) | gnomAD v4 |
| 11 | g.124872924A>G | CA477449367 | ROBO3 | c.1371A>G (p.Pro457=) c.1305A>G (p.Pro435=) c.2343A>G (p.Pro781=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.124872924A>T | CA477449368 | ROBO3 | c.1371A>T (p.Pro457=) c.1305A>T (p.Pro435=) c.2343A>T (p.Pro781=) | |
| 11 | g.124872925G>A | CA230389549 | ROBO3 | c.1372G>A (p.Ala458Thr) c.1306G>A (p.Ala436Thr) c.2344G>A (p.Ala782Thr) | dbSNP gnomAD v4 |
| 11 | g.124872925G>C | CA383142373 | ROBO3 | c.1372G>C (p.Ala458Pro) c.1306G>C (p.Ala436Pro) c.2344G>C (p.Ala782Pro) | |
| 11 | g.124872925G= | CA2006416406 | ROBO3 | c.1372G= (p.Ala458=) c.1306G= (p.Ala436=) c.2344G= (p.Ala782=) | |
| 11 | g.124872925G>T | CA383142374 | ROBO3 | c.1372G>T (p.Ala458Ser) c.1306G>T (p.Ala436Ser) c.2344G>T (p.Ala782Ser) | |
| 11 | g.124872926C>A | CA383142376 | ROBO3 | c.1373C>A (p.Ala458Asp) c.1307C>A (p.Ala436Asp) c.2345C>A (p.Ala782Asp) | gnomAD v4 |
| 11 | g.124872926C>G | CA383142377 | ROBO3 | c.1373C>G (p.Ala458Gly) c.1307C>G (p.Ala436Gly) c.2345C>G (p.Ala782Gly) | |
| 11 | g.124872926C>T | CA383142378 | ROBO3 | c.1373C>T (p.Ala458Val) c.1307C>T (p.Ala436Val) c.2345C>T (p.Ala782Val) | |
| 11 | g.124872927C>A | CA477449374 | ROBO3 | c.1374C>A (p.Ala458=) c.1308C>A (p.Ala436=) c.2346C>A (p.Ala782=) | dbSNP gnomAD v4 |
| 11 | g.124872927C= | CA2006416407 | ROBO3 | c.1374C= (p.Ala458=) c.1308C= (p.Ala436=) c.2346C= (p.Ala782=) | |
| 11 | g.124872927C>G | CA477449373 | ROBO3 | c.1374C>G (p.Ala458=) c.1308C>G (p.Ala436=) c.2346C>G (p.Ala782=) | |
| 11 | g.124872927C>T | CA477449375 | ROBO3 | c.1374C>T (p.Ala458=) c.1308C>T (p.Ala436=) c.2346C>T (p.Ala782=) | |
| 11 | g.124872928A>C | CA383142380 | ROBO3 | c.1375A>C (p.Asn459His) c.1309A>C (p.Asn437His) c.2347A>C (p.Asn783His) | |
| 11 | g.124872928A>G | CA383142381 | ROBO3 | c.1375A>G (p.Asn459Asp) c.1309A>G (p.Asn437Asp) c.2347A>G (p.Asn783Asp) | |
| 11 | g.124872928A>T | CA383142379 | ROBO3 | c.1375A>T (p.Asn459Tyr) c.1309A>T (p.Asn437Tyr) c.2347A>T (p.Asn783Tyr) | |
| 11 | g.124872929A= | CA2006416408 | ROBO3 | c.1376A= (p.Asn459=) c.1310A= (p.Asn437=) c.2348A= (p.Asn783=) | |
| 11 | g.124872929A>C | CA383142382 | ROBO3 | c.1376A>C (p.Asn459Thr) c.1310A>C (p.Asn437Thr) c.2348A>C (p.Asn783Thr) | |
| 11 | g.124872929A>G | CA230389552 | ROBO3 | c.1376A>G (p.Asn459Ser) c.1310A>G (p.Asn437Ser) c.2348A>G (p.Asn783Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.124872929A>T | CA383142383 | ROBO3 | c.1376A>T (p.Asn459Ile) c.1310A>T (p.Asn437Ile) c.2348A>T (p.Asn783Ile) | |
| 11 | g.124872930T>A | CA383142384 | ROBO3 | c.1377T>A (p.Asn459Lys) c.1311T>A (p.Asn437Lys) c.2349T>A (p.Asn783Lys) | |
| 11 | g.124872930T>C | CA477449379 | ROBO3 | c.1377T>C (p.Asn459=) c.1311T>C (p.Asn437=) c.2349T>C (p.Asn783=) | |
| 11 | g.124872930T>G | CA383142385 | ROBO3 | c.1377T>G (p.Asn459Lys) c.1311T>G (p.Asn437Lys) c.2349T>G (p.Asn783Lys) | |
| 11 | g.124872931C>A | CA383142388 | ROBO3 | c.1378C>A (p.Gln460Lys) c.1312C>A (p.Gln438Lys) c.2350C>A (p.Gln784Lys) | |
| 11 | g.124872931C>G | CA383142386 | ROBO3 | c.1378C>G (p.Gln460Glu) c.1312C>G (p.Gln438Glu) c.2350C>G (p.Gln784Glu) | |
| 11 | g.124872931C>T | CA383142387 | ROBO3 | c.1378C>T (p.Gln460Ter) c.1312C>T (p.Gln438Ter) c.2350C>T (p.Gln784Ter) | |
| 11 | g.124872932A= | CA2006416409 | ROBO3 | c.1379A= (p.Gln460=) c.1313A= (p.Gln438=) c.2351A= (p.Gln784=) | |
| 11 | g.124872932A>C | CA383142389 | ROBO3 | c.1379A>C (p.Gln460Pro) c.1313A>C (p.Gln438Pro) c.2351A>C (p.Gln784Pro) | |
| 11 | g.124872932A>G | CA6343478 | ROBO3 | c.1379A>G (p.Gln460Arg) c.1313A>G (p.Gln438Arg) c.2351A>G (p.Gln784Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.124872932A>T | CA383142390 | ROBO3 | c.1379A>T (p.Gln460Leu) c.1313A>T (p.Gln438Leu) c.2351A>T (p.Gln784Leu) |