WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.138428009T>A | CA361094194 | KDM3B | c.4676T>A (p.Leu1559His) c.2092T>A (n.2092T>A) n.499T>A c.4386T>A (n.4386T>A) c.1670T>A (p.Leu557His) c.4076T>A (p.Leu1359His) c.4544T>A (p.Leu1515His) c.4532T>A (p.Leu1511His) c.3929T>A (p.Leu1310His) c.4202T>A (p.Leu1401His) | |
| 5 | g.138428009T>C | CA361094196 | KDM3B | c.4676T>C (p.Leu1559Pro) c.2092T>C (n.2092T>C) n.499T>C c.4386T>C (n.4386T>C) c.1670T>C (p.Leu557Pro) c.4076T>C (p.Leu1359Pro) c.4544T>C (p.Leu1515Pro) c.4532T>C (p.Leu1511Pro) c.3929T>C (p.Leu1310Pro) c.4202T>C (p.Leu1401Pro) | |
| 5 | g.138428009T>G | CA361094198 | KDM3B | c.4676T>G (p.Leu1559Arg) c.2092T>G (n.2092T>G) n.499T>G c.4386T>G (n.4386T>G) c.1670T>G (p.Leu557Arg) c.4076T>G (p.Leu1359Arg) c.4544T>G (p.Leu1515Arg) c.4532T>G (p.Leu1511Arg) c.3929T>G (p.Leu1310Arg) c.4202T>G (p.Leu1401Arg) | |
| 5 | g.138428010T>A | CA446595329 | KDM3B | c.4677T>A (p.Leu1559=) c.2093T>A (n.2093T>A) n.500T>A c.4387T>A (n.4387T>A) c.1671T>A (p.Leu557=) c.4077T>A (p.Leu1359=) c.4545T>A (p.Leu1515=) c.4533T>A (p.Leu1511=) c.3930T>A (p.Leu1310=) c.4203T>A (p.Leu1401=) | |
| 5 | g.138428010T>C | CA446595331 | KDM3B | c.4677T>C (p.Leu1559=) c.2093T>C (n.2093T>C) n.500T>C c.4387T>C (n.4387T>C) c.1671T>C (p.Leu557=) c.4077T>C (p.Leu1359=) c.4545T>C (p.Leu1515=) c.4533T>C (p.Leu1511=) c.3930T>C (p.Leu1310=) c.4203T>C (p.Leu1401=) | |
| 5 | g.138428010T>G | CA446595332 | KDM3B | c.4677T>G (p.Leu1559=) c.2093T>G (n.2093T>G) n.500T>G c.4387T>G (n.4387T>G) c.1671T>G (p.Leu557=) c.4077T>G (p.Leu1359=) c.4545T>G (p.Leu1515=) c.4533T>G (p.Leu1511=) c.3930T>G (p.Leu1310=) c.4203T>G (p.Leu1401=) | |
| 5 | g.138428011C>A | CA361094200 | KDM3B | c.4678C>A (p.His1560Asn) c.2094C>A (n.2094C>A) n.501C>A c.4388C>A (n.4388C>A) c.1672C>A (p.His558Asn) c.4078C>A (p.His1360Asn) c.4546C>A (p.His1516Asn) c.4534C>A (p.His1512Asn) c.3931C>A (p.His1311Asn) c.4204C>A (p.His1402Asn) | |
| 5 | g.138428011C>G | CA361094204 | KDM3B | c.4678C>G (p.His1560Asp) c.2094C>G (n.2094C>G) n.501C>G c.4388C>G (n.4388C>G) c.1672C>G (p.His558Asp) c.4078C>G (p.His1360Asp) c.4546C>G (p.His1516Asp) c.4534C>G (p.His1512Asp) c.3931C>G (p.His1311Asp) c.4204C>G (p.His1402Asp) | |
| 5 | g.138428011C>T | CA361094202 | KDM3B | c.4678C>T (p.His1560Tyr) c.2094C>T (n.2094C>T) n.501C>T c.4388C>T (n.4388C>T) c.1672C>T (p.His558Tyr) c.4078C>T (p.His1360Tyr) c.4546C>T (p.His1516Tyr) c.4534C>T (p.His1512Tyr) c.3931C>T (p.His1311Tyr) c.4204C>T (p.His1402Tyr) | |
| 5 | g.138428012A>C | CA361094206 | KDM3B | c.4679A>C (p.His1560Pro) c.2095A>C (n.2095A>C) n.502A>C c.4389A>C (n.4389A>C) c.1673A>C (p.His558Pro) c.4079A>C (p.His1360Pro) c.4547A>C (p.His1516Pro) c.4535A>C (p.His1512Pro) c.3932A>C (p.His1311Pro) c.4205A>C (p.His1402Pro) | |
| 5 | g.138428012A>G | CA361094208 | KDM3B | c.4679A>G (p.His1560Arg) c.2095A>G (n.2095A>G) n.502A>G c.4389A>G (n.4389A>G) c.1673A>G (p.His558Arg) c.4079A>G (p.His1360Arg) c.4547A>G (p.His1516Arg) c.4535A>G (p.His1512Arg) c.3932A>G (p.His1311Arg) c.4205A>G (p.His1402Arg) | |
| 5 | g.138428012A>T | CA361094210 | KDM3B | c.4679A>T (p.His1560Leu) c.2095A>T (n.2095A>T) n.502A>T c.4389A>T (n.4389A>T) c.1673A>T (p.His558Leu) c.4079A>T (p.His1360Leu) c.4547A>T (p.His1516Leu) c.4535A>T (p.His1512Leu) c.3932A>T (p.His1311Leu) c.4205A>T (p.His1402Leu) | |
| 5 | g.138428013C>A | CA361094212 | KDM3B | c.4680C>A (p.His1560Gln) c.2096C>A (n.2096C>A) n.503C>A c.4390C>A (n.4390C>A) c.1674C>A (p.His558Gln) c.4080C>A (p.His1360Gln) c.4548C>A (p.His1516Gln) c.4536C>A (p.His1512Gln) c.3933C>A (p.His1311Gln) c.4206C>A (p.His1402Gln) | |
| 5 | g.138428013C>G | CA361094213 | KDM3B | c.4680C>G (p.His1560Gln) c.2096C>G (n.2096C>G) n.503C>G c.4390C>G (n.4390C>G) c.1674C>G (p.His558Gln) c.4080C>G (p.His1360Gln) c.4548C>G (p.His1516Gln) c.4536C>G (p.His1512Gln) c.3933C>G (p.His1311Gln) c.4206C>G (p.His1402Gln) | |
| 5 | g.138428013C>T | CA446595335 | KDM3B | c.4680C>T (p.His1560=) c.2096C>T (n.2096C>T) n.503C>T c.4390C>T (n.4390C>T) c.1674C>T (p.His558=) c.4080C>T (p.His1360=) c.4548C>T (p.His1516=) c.4536C>T (p.His1512=) c.3933C>T (p.His1311=) c.4206C>T (p.His1402=) | |
| 5 | g.138428014T>A | CA361094216 | KDM3B | c.4681T>A (p.Leu1561Ile) c.2097T>A (n.2097T>A) n.504T>A c.4391T>A (n.4391T>A) c.1675T>A (p.Leu559Ile) c.4081T>A (p.Leu1361Ile) c.4549T>A (p.Leu1517Ile) c.4537T>A (p.Leu1513Ile) c.3934T>A (p.Leu1312Ile) c.4207T>A (p.Leu1403Ile) | |
| 5 | g.138428014T>C | CA446595338 | KDM3B | c.4681T>C (p.Leu1561=) c.2097T>C (n.2097T>C) n.504T>C c.4391T>C (n.4391T>C) c.1675T>C (p.Leu559=) c.4081T>C (p.Leu1361=) c.4549T>C (p.Leu1517=) c.4537T>C (p.Leu1513=) c.3934T>C (p.Leu1312=) c.4207T>C (p.Leu1403=) | |
| 5 | g.138428014T>G | CA361094218 | KDM3B | c.4681T>G (p.Leu1561Val) c.2097T>G (n.2097T>G) n.504T>G c.4391T>G (n.4391T>G) c.1675T>G (p.Leu559Val) c.4081T>G (p.Leu1361Val) c.4549T>G (p.Leu1517Val) c.4537T>G (p.Leu1513Val) c.3934T>G (p.Leu1312Val) c.4207T>G (p.Leu1403Val) | |
| 5 | g.138428015T>A | CA361094220 | KDM3B | c.4682T>A (p.Leu1561Ter) c.2098T>A (n.2098T>A) n.505T>A c.4392T>A (n.4392T>A) c.1676T>A (p.Leu559Ter) c.4082T>A (p.Leu1361Ter) c.4550T>A (p.Leu1517Ter) c.4538T>A (p.Leu1513Ter) c.3935T>A (p.Leu1312Ter) c.4208T>A (p.Leu1403Ter) | |
| 5 | g.138428015T>C | CA361094221 | KDM3B | c.4682T>C (p.Leu1561Ser) c.2098T>C (n.2098T>C) n.505T>C c.4392T>C (n.4392T>C) c.1676T>C (p.Leu559Ser) c.4082T>C (p.Leu1361Ser) c.4550T>C (p.Leu1517Ser) c.4538T>C (p.Leu1513Ser) c.3935T>C (p.Leu1312Ser) c.4208T>C (p.Leu1403Ser) | |
| 5 | g.138428015T>G | CA361094223 | KDM3B | c.4682T>G (p.Leu1561Ter) c.2098T>G (n.2098T>G) n.505T>G c.4392T>G (n.4392T>G) c.1676T>G (p.Leu559Ter) c.4082T>G (p.Leu1361Ter) c.4550T>G (p.Leu1517Ter) c.4538T>G (p.Leu1513Ter) c.3935T>G (p.Leu1312Ter) c.4208T>G (p.Leu1403Ter) | |
| 5 | g.138428016A>C | CA361094224 | KDM3B | c.4683A>C (p.Leu1561Phe) c.2099A>C (n.2099A>C) n.506A>C c.4393A>C (n.4393A>C) c.1677A>C (p.Leu559Phe) c.4083A>C (p.Leu1361Phe) c.4551A>C (p.Leu1517Phe) c.4539A>C (p.Leu1513Phe) c.3936A>C (p.Leu1312Phe) c.4209A>C (p.Leu1403Phe) | |
| 5 | g.138428016A>G | CA446595343 | KDM3B | c.4683A>G (p.Leu1561=) c.2099A>G (n.2099A>G) n.506A>G c.4393A>G (n.4393A>G) c.1677A>G (p.Leu559=) c.4083A>G (p.Leu1361=) c.4551A>G (p.Leu1517=) c.4539A>G (p.Leu1513=) c.3936A>G (p.Leu1312=) c.4209A>G (p.Leu1403=) | |
| 5 | g.138428016A>T | CA361094226 | KDM3B | c.4683A>T (p.Leu1561Phe) c.2099A>T (n.2099A>T) n.506A>T c.4393A>T (n.4393A>T) c.1677A>T (p.Leu559Phe) c.4083A>T (p.Leu1361Phe) c.4551A>T (p.Leu1517Phe) c.4539A>T (p.Leu1513Phe) c.3936A>T (p.Leu1312Phe) c.4209A>T (p.Leu1403Phe) | |
| 5 | g.138428017G>A | CA361094232 | KDM3B | c.4684G>A (p.Asp1562Asn) c.2100G>A (n.2100G>A) n.507G>A c.4394G>A (n.4394G>A) c.1678G>A (p.Asp560Asn) c.4084G>A (p.Asp1362Asn) c.4552G>A (p.Asp1518Asn) c.4540G>A (p.Asp1514Asn) c.3937G>A (p.Asp1313Asn) c.4210G>A (p.Asp1404Asn) | |
| 5 | g.138428017G>C | CA361094230 | KDM3B | c.4684G>C (p.Asp1562His) c.2100G>C (n.2100G>C) n.507G>C c.4394G>C (n.4394G>C) c.1678G>C (p.Asp560His) c.4084G>C (p.Asp1362His) c.4552G>C (p.Asp1518His) c.4540G>C (p.Asp1514His) c.3937G>C (p.Asp1313His) c.4210G>C (p.Asp1404His) | |
| 5 | g.138428017G>T | CA361094228 | KDM3B | c.4684G>T (p.Asp1562Tyr) c.2100G>T (n.2100G>T) n.507G>T c.4394G>T (n.4394G>T) c.1678G>T (p.Asp560Tyr) c.4084G>T (p.Asp1362Tyr) c.4552G>T (p.Asp1518Tyr) c.4540G>T (p.Asp1514Tyr) c.3937G>T (p.Asp1313Tyr) c.4210G>T (p.Asp1404Tyr) | COSMIC |
| 5 | g.138428018A>C | CA361094234 | KDM3B | c.4685A>C (p.Asp1562Ala) c.2101A>C (n.2101A>C) n.508A>C c.4395A>C (n.4395A>C) c.1679A>C (p.Asp560Ala) c.4085A>C (p.Asp1362Ala) c.4553A>C (p.Asp1518Ala) c.4541A>C (p.Asp1514Ala) c.3938A>C (p.Asp1313Ala) c.4211A>C (p.Asp1404Ala) | |
| 5 | g.138428018A>G | CA361094238 | KDM3B | c.4685A>G (p.Asp1562Gly) c.2101A>G (n.2101A>G) n.508A>G c.4395A>G (n.4395A>G) c.1679A>G (p.Asp560Gly) c.4085A>G (p.Asp1362Gly) c.4553A>G (p.Asp1518Gly) c.4541A>G (p.Asp1514Gly) c.3938A>G (p.Asp1313Gly) c.4211A>G (p.Asp1404Gly) | |
| 5 | g.138428018A>T | CA361094236 | KDM3B | c.4685A>T (p.Asp1562Val) c.2101A>T (n.2101A>T) n.508A>T c.4395A>T (n.4395A>T) c.1679A>T (p.Asp560Val) c.4085A>T (p.Asp1362Val) c.4553A>T (p.Asp1518Val) c.4541A>T (p.Asp1514Val) c.3938A>T (p.Asp1313Val) c.4211A>T (p.Asp1404Val) | |
| 5 | g.138428019T>A | CA361094241 | KDM3B | c.4686T>A (p.Asp1562Glu) c.2102T>A (n.2102T>A) n.509T>A c.4396T>A (n.4396T>A) c.1680T>A (p.Asp560Glu) c.4086T>A (p.Asp1362Glu) c.4554T>A (p.Asp1518Glu) c.4542T>A (p.Asp1514Glu) c.3939T>A (p.Asp1313Glu) c.4212T>A (p.Asp1404Glu) | |
| 5 | g.138428019T>C | CA446595353 | KDM3B | c.4686T>C (p.Asp1562=) c.2102T>C (n.2102T>C) n.509T>C c.4396T>C (n.4396T>C) c.1680T>C (p.Asp560=) c.4086T>C (p.Asp1362=) c.4554T>C (p.Asp1518=) c.4542T>C (p.Asp1514=) c.3939T>C (p.Asp1313=) c.4212T>C (p.Asp1404=) | gnomAD v4 |
| 5 | g.138428019T>G | CA361094243 | KDM3B | c.4686T>G (p.Asp1562Glu) c.2102T>G (n.2102T>G) n.509T>G c.4396T>G (n.4396T>G) c.1680T>G (p.Asp560Glu) c.4086T>G (p.Asp1362Glu) c.4554T>G (p.Asp1518Glu) c.4542T>G (p.Asp1514Glu) c.3939T>G (p.Asp1313Glu) c.4212T>G (p.Asp1404Glu) | |
| 5 | g.138428020G>A | CA361094246 | KDM3B | c.4687G>A (p.Val1563Met) c.2103G>A (n.2103G>A) n.510G>A c.4397G>A (n.4397G>A) c.1681G>A (p.Val561Met) c.4087G>A (p.Val1363Met) c.4555G>A (p.Val1519Met) c.4543G>A (p.Val1515Met) c.3940G>A (p.Val1314Met) c.4213G>A (p.Val1405Met) | |
| 5 | g.138428020G>C | CA361094247 | KDM3B | c.4687G>C (p.Val1563Leu) c.2103G>C (n.2103G>C) n.510G>C c.4397G>C (n.4397G>C) c.1681G>C (p.Val561Leu) c.4087G>C (p.Val1363Leu) c.4555G>C (p.Val1519Leu) c.4543G>C (p.Val1515Leu) c.3940G>C (p.Val1314Leu) c.4213G>C (p.Val1405Leu) | |
| 5 | g.138428020G>T | CA361094249 | KDM3B | c.4687G>T (p.Val1563Leu) c.2103G>T (n.2103G>T) n.510G>T c.4397G>T (n.4397G>T) c.1681G>T (p.Val561Leu) c.4087G>T (p.Val1363Leu) c.4555G>T (p.Val1519Leu) c.4543G>T (p.Val1515Leu) c.3940G>T (p.Val1314Leu) c.4213G>T (p.Val1405Leu) | |
| 5 | g.138428021T>A | CA361094256 | KDM3B | c.4688T>A (p.Val1563Glu) c.2104T>A (n.2104T>A) n.511T>A c.4398T>A (n.4398T>A) c.1682T>A (p.Val561Glu) c.4088T>A (p.Val1363Glu) c.4556T>A (p.Val1519Glu) c.4544T>A (p.Val1515Glu) c.3941T>A (p.Val1314Glu) c.4214T>A (p.Val1405Glu) | |
| 5 | g.138428021T>C | CA361094254 | KDM3B | c.4688T>C (p.Val1563Ala) c.2104T>C (n.2104T>C) n.511T>C c.4398T>C (n.4398T>C) c.1682T>C (p.Val561Ala) c.4088T>C (p.Val1363Ala) c.4556T>C (p.Val1519Ala) c.4544T>C (p.Val1515Ala) c.3941T>C (p.Val1314Ala) c.4214T>C (p.Val1405Ala) | |
| 5 | g.138428021T>G | CA361094252 | KDM3B | c.4688T>G (p.Val1563Gly) c.2104T>G (n.2104T>G) n.511T>G c.4398T>G (n.4398T>G) c.1682T>G (p.Val561Gly) c.4088T>G (p.Val1363Gly) c.4556T>G (p.Val1519Gly) c.4544T>G (p.Val1515Gly) c.3941T>G (p.Val1314Gly) c.4214T>G (p.Val1405Gly) | |
| 5 | g.138428022G>A | CA128185569 | KDM3B | c.4689G>A (p.Val1563=) c.2105G>A (n.2105G>A) n.512G>A c.4399G>A (n.4399G>A) c.1683G>A (p.Val561=) c.4089G>A (p.Val1363=) c.4557G>A (p.Val1519=) c.4545G>A (p.Val1515=) c.3942G>A (p.Val1314=) c.4215G>A (p.Val1405=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138428022G>C | CA446595358 | KDM3B | c.4689G>C (p.Val1563=) c.2105G>C (n.2105G>C) n.512G>C c.4399G>C (n.4399G>C) c.1683G>C (p.Val561=) c.4089G>C (p.Val1363=) c.4557G>C (p.Val1519=) c.4545G>C (p.Val1515=) c.3942G>C (p.Val1314=) c.4215G>C (p.Val1405=) | gnomAD v4 |
| 5 | g.138428022G= | CA1585838032 | KDM3B | c.4689G= (p.Val1563=) c.2105G= (n.2105G=) n.512G= c.4399G= (n.4399G=) c.1683G= (p.Val561=) c.4089G= (p.Val1363=) c.4557G= (p.Val1519=) c.4545G= (p.Val1515=) c.3942G= (p.Val1314=) c.4215G= (p.Val1405=) | |
| 5 | g.138428022G>T | CA446595359 | KDM3B | c.4689G>T (p.Val1563=) c.2105G>T (n.2105G>T) n.512G>T c.4399G>T (n.4399G>T) c.1683G>T (p.Val561=) c.4089G>T (p.Val1363=) c.4557G>T (p.Val1519=) c.4545G>T (p.Val1515=) c.3942G>T (p.Val1314=) c.4215G>T (p.Val1405=) | |
| 5 | g.138428023T>A | CA361094259 | KDM3B | c.4690T>A (p.Ser1564Thr) c.2106T>A (n.2106T>A) n.513T>A c.4400T>A (n.4400T>A) c.1684T>A (p.Ser562Thr) c.4090T>A (p.Ser1364Thr) c.4558T>A (p.Ser1520Thr) c.4546T>A (p.Ser1516Thr) c.3943T>A (p.Ser1315Thr) c.4216T>A (p.Ser1406Thr) | |
| 5 | g.138428023T>C | CA361094260 | KDM3B | c.4690T>C (p.Ser1564Pro) c.2106T>C (n.2106T>C) n.513T>C c.4400T>C (n.4400T>C) c.1684T>C (p.Ser562Pro) c.4090T>C (p.Ser1364Pro) c.4558T>C (p.Ser1520Pro) c.4546T>C (p.Ser1516Pro) c.3943T>C (p.Ser1315Pro) c.4216T>C (p.Ser1406Pro) | |
| 5 | g.138428023T>G | CA361094262 | KDM3B | c.4690T>G (p.Ser1564Ala) c.2106T>G (n.2106T>G) n.513T>G c.4400T>G (n.4400T>G) c.1684T>G (p.Ser562Ala) c.4090T>G (p.Ser1364Ala) c.4558T>G (p.Ser1520Ala) c.4546T>G (p.Ser1516Ala) c.3943T>G (p.Ser1315Ala) c.4216T>G (p.Ser1406Ala) | |
| 5 | g.138428024C>A | CA361094264 | KDM3B | c.4691C>A (p.Ser1564Tyr) c.2107C>A (n.2107C>A) n.514C>A c.4401C>A (n.4401C>A) c.1685C>A (p.Ser562Tyr) c.4091C>A (p.Ser1364Tyr) c.4559C>A (p.Ser1520Tyr) c.4547C>A (p.Ser1516Tyr) c.3944C>A (p.Ser1315Tyr) c.4217C>A (p.Ser1406Tyr) | gnomAD v4 |
| 5 | g.138428024C>G | CA361094266 | KDM3B | c.4691C>G (p.Ser1564Cys) c.2107C>G (n.2107C>G) n.514C>G c.4401C>G (n.4401C>G) c.1685C>G (p.Ser562Cys) c.4091C>G (p.Ser1364Cys) c.4559C>G (p.Ser1520Cys) c.4547C>G (p.Ser1516Cys) c.3944C>G (p.Ser1315Cys) c.4217C>G (p.Ser1406Cys) | |
| 5 | g.138428024C>T | CA361094268 | KDM3B | c.4691C>T (p.Ser1564Phe) c.2107C>T (n.2107C>T) n.514C>T c.4401C>T (n.4401C>T) c.1685C>T (p.Ser562Phe) c.4091C>T (p.Ser1364Phe) c.4559C>T (p.Ser1520Phe) c.4547C>T (p.Ser1516Phe) c.3944C>T (p.Ser1315Phe) c.4217C>T (p.Ser1406Phe) | |
| 5 | g.138428025T>A | CA446595363 | KDM3B | c.4692T>A (p.Ser1564=) c.2108T>A (n.2108T>A) n.515T>A c.4402T>A (n.4402T>A) c.1686T>A (p.Ser562=) c.4092T>A (p.Ser1364=) c.4560T>A (p.Ser1520=) c.4548T>A (p.Ser1516=) c.3945T>A (p.Ser1315=) c.4218T>A (p.Ser1406=) | dbSNP |