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 |
|---|---|---|---|---|---|
| 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 |
| 5 | g.138428025T>C | CA446595365 | KDM3B | c.4692T>C (p.Ser1564=) c.2108T>C (n.2108T>C) n.515T>C c.4402T>C (n.4402T>C) c.1686T>C (p.Ser562=) c.4092T>C (p.Ser1364=) c.4560T>C (p.Ser1520=) c.4548T>C (p.Ser1516=) c.3945T>C (p.Ser1315=) c.4218T>C (p.Ser1406=) | |
| 5 | g.138428025T>G | CA446595367 | KDM3B | c.4692T>G (p.Ser1564=) c.2108T>G (n.2108T>G) n.515T>G c.4402T>G (n.4402T>G) c.1686T>G (p.Ser562=) c.4092T>G (p.Ser1364=) c.4560T>G (p.Ser1520=) c.4548T>G (p.Ser1516=) c.3945T>G (p.Ser1315=) c.4218T>G (p.Ser1406=) | gnomAD v4 |
| 5 | g.138428025T= | CA1585838033 | KDM3B | c.4692T= (p.Ser1564=) c.2108T= (n.2108T=) n.515T= c.4402T= (n.4402T=) c.1686T= (p.Ser562=) c.4092T= (p.Ser1364=) c.4560T= (p.Ser1520=) c.4548T= (p.Ser1516=) c.3945T= (p.Ser1315=) c.4218T= (p.Ser1406=) | |
| 5 | g.138428026G>A | CA361094270 | KDM3B | c.4693G>A (p.Asp1565Asn) c.2109G>A (n.2109G>A) n.516G>A c.4403G>A (n.4403G>A) c.1687G>A (p.Asp563Asn) c.4093G>A (p.Asp1365Asn) c.4561G>A (p.Asp1521Asn) c.4549G>A (p.Asp1517Asn) c.3946G>A (p.Asp1316Asn) c.4219G>A (p.Asp1407Asn) | |
| 5 | g.138428026G>C | CA361094274 | KDM3B | c.4693G>C (p.Asp1565His) c.2109G>C (n.2109G>C) n.516G>C c.4403G>C (n.4403G>C) c.1687G>C (p.Asp563His) c.4093G>C (p.Asp1365His) c.4561G>C (p.Asp1521His) c.4549G>C (p.Asp1517His) c.3946G>C (p.Asp1316His) c.4219G>C (p.Asp1407His) | COSMIC |
| 5 | g.138428026G>T | CA361094272 | KDM3B | c.4693G>T (p.Asp1565Tyr) c.2109G>T (n.2109G>T) n.516G>T c.4403G>T (n.4403G>T) c.1687G>T (p.Asp563Tyr) c.4093G>T (p.Asp1365Tyr) c.4561G>T (p.Asp1521Tyr) c.4549G>T (p.Asp1517Tyr) c.3946G>T (p.Asp1316Tyr) c.4219G>T (p.Asp1407Tyr) | |
| 5 | g.138428027A= | CA1585838034 | KDM3B | c.4694A= (p.Asp1565=) c.2110A= (n.2110A=) n.517A= c.4404A= (n.4404A=) c.1688A= (p.Asp563=) c.4094A= (p.Asp1365=) c.4562A= (p.Asp1521=) c.4550A= (p.Asp1517=) c.3947A= (p.Asp1316=) c.4220A= (p.Asp1407=) | |
| 5 | g.138428027A>C | CA361094276 | KDM3B | c.4694A>C (p.Asp1565Ala) c.2110A>C (n.2110A>C) n.517A>C c.4404A>C (n.4404A>C) c.1688A>C (p.Asp563Ala) c.4094A>C (p.Asp1365Ala) c.4562A>C (p.Asp1521Ala) c.4550A>C (p.Asp1517Ala) c.3947A>C (p.Asp1316Ala) c.4220A>C (p.Asp1407Ala) | |
| 5 | g.138428027A>G | CA361094278 | KDM3B | c.4694A>G (p.Asp1565Gly) c.2110A>G (n.2110A>G) n.517A>G c.4404A>G (n.4404A>G) c.1688A>G (p.Asp563Gly) c.4094A>G (p.Asp1365Gly) c.4562A>G (p.Asp1521Gly) c.4550A>G (p.Asp1517Gly) c.3947A>G (p.Asp1316Gly) c.4220A>G (p.Asp1407Gly) | dbSNP |
| 5 | g.138428027A>T | CA361094280 | KDM3B | c.4694A>T (p.Asp1565Val) c.2110A>T (n.2110A>T) n.517A>T c.4404A>T (n.4404A>T) c.1688A>T (p.Asp563Val) c.4094A>T (p.Asp1365Val) c.4562A>T (p.Asp1521Val) c.4550A>T (p.Asp1517Val) c.3947A>T (p.Asp1316Val) c.4220A>T (p.Asp1407Val) | |
| 5 | g.138428028T>A | CA361094281 | KDM3B | c.4695T>A (p.Asp1565Glu) c.2111T>A (n.2111T>A) n.518T>A c.4405T>A (n.4405T>A) c.1689T>A (p.Asp563Glu) c.4095T>A (p.Asp1365Glu) c.4563T>A (p.Asp1521Glu) c.4551T>A (p.Asp1517Glu) c.3948T>A (p.Asp1316Glu) c.4221T>A (p.Asp1407Glu) | |
| 5 | g.138428028T>C | CA446595369 | KDM3B | c.4695T>C (p.Asp1565=) c.2111T>C (n.2111T>C) n.518T>C c.4405T>C (n.4405T>C) c.1689T>C (p.Asp563=) c.4095T>C (p.Asp1365=) c.4563T>C (p.Asp1521=) c.4551T>C (p.Asp1517=) c.3948T>C (p.Asp1316=) c.4221T>C (p.Asp1407=) | dbSNP |
| 5 | g.138428028T>G | CA361094282 | KDM3B | c.4695T>G (p.Asp1565Glu) c.2111T>G (n.2111T>G) n.518T>G c.4405T>G (n.4405T>G) c.1689T>G (p.Asp563Glu) c.4095T>G (p.Asp1365Glu) c.4563T>G (p.Asp1521Glu) c.4551T>G (p.Asp1517Glu) c.3948T>G (p.Asp1316Glu) c.4221T>G (p.Asp1407Glu) | |
| 5 | g.138428028T= | CA1585838035 | KDM3B | c.4695T= (p.Asp1565=) c.2111T= (n.2111T=) n.518T= c.4405T= (n.4405T=) c.1689T= (p.Asp563=) c.4095T= (p.Asp1365=) c.4563T= (p.Asp1521=) c.4551T= (p.Asp1517=) c.3948T= (p.Asp1316=) c.4221T= (p.Asp1407=) | |
| 5 | g.138428029G>A | CA361094283 | KDM3B | c.4696G>A (p.Ala1566Thr) c.2112G>A (n.2112G>A) n.519G>A c.4406G>A (n.4406G>A) c.1690G>A (p.Ala564Thr) c.4096G>A (p.Ala1366Thr) c.4564G>A (p.Ala1522Thr) c.4552G>A (p.Ala1518Thr) c.3949G>A (p.Ala1317Thr) c.4222G>A (p.Ala1408Thr) | |
| 5 | g.138428029G>C | CA361094284 | KDM3B | c.4696G>C (p.Ala1566Pro) c.2112G>C (n.2112G>C) n.519G>C c.4406G>C (n.4406G>C) c.1690G>C (p.Ala564Pro) c.4096G>C (p.Ala1366Pro) c.4564G>C (p.Ala1522Pro) c.4552G>C (p.Ala1518Pro) c.3949G>C (p.Ala1317Pro) c.4222G>C (p.Ala1408Pro) | |
| 5 | g.138428029G>T | CA361094285 | KDM3B | c.4696G>T (p.Ala1566Ser) c.2112G>T (n.2112G>T) n.519G>T c.4406G>T (n.4406G>T) c.1690G>T (p.Ala564Ser) c.4096G>T (p.Ala1366Ser) c.4564G>T (p.Ala1522Ser) c.4552G>T (p.Ala1518Ser) c.3949G>T (p.Ala1317Ser) c.4222G>T (p.Ala1408Ser) | |
| 5 | g.138428030C>A | CA361094288 | KDM3B | c.4697C>A (p.Ala1566Asp) c.2113C>A (n.2113C>A) n.520C>A c.4407C>A (n.4407C>A) c.1691C>A (p.Ala564Asp) c.4097C>A (p.Ala1366Asp) c.4565C>A (p.Ala1522Asp) c.4553C>A (p.Ala1518Asp) c.3950C>A (p.Ala1317Asp) c.4223C>A (p.Ala1408Asp) | |
| 5 | g.138428030C>G | CA361094290 | KDM3B | c.4697C>G (p.Ala1566Gly) c.2113C>G (n.2113C>G) n.520C>G c.4407C>G (n.4407C>G) c.1691C>G (p.Ala564Gly) c.4097C>G (p.Ala1366Gly) c.4565C>G (p.Ala1522Gly) c.4553C>G (p.Ala1518Gly) c.3950C>G (p.Ala1317Gly) c.4223C>G (p.Ala1408Gly) | |
| 5 | g.138428030C>T | CA361094292 | KDM3B | c.4697C>T (p.Ala1566Val) c.2113C>T (n.2113C>T) n.520C>T c.4407C>T (n.4407C>T) c.1691C>T (p.Ala564Val) c.4097C>T (p.Ala1366Val) c.4565C>T (p.Ala1522Val) c.4553C>T (p.Ala1518Val) c.3950C>T (p.Ala1317Val) c.4223C>T (p.Ala1408Val) | |
| 5 | g.138428031T>A | CA446595372 | KDM3B | c.4698T>A (p.Ala1566=) c.2114T>A (n.2114T>A) n.521T>A c.4408T>A (n.4408T>A) c.1692T>A (p.Ala564=) c.4098T>A (p.Ala1366=) c.4566T>A (p.Ala1522=) c.4554T>A (p.Ala1518=) c.3951T>A (p.Ala1317=) c.4224T>A (p.Ala1408=) | |
| 5 | g.138428031T>C | CA446595373 | KDM3B | c.4698T>C (p.Ala1566=) c.2114T>C (n.2114T>C) n.521T>C c.4408T>C (n.4408T>C) c.1692T>C (p.Ala564=) c.4098T>C (p.Ala1366=) c.4566T>C (p.Ala1522=) c.4554T>C (p.Ala1518=) c.3951T>C (p.Ala1317=) c.4224T>C (p.Ala1408=) | dbSNP |
| 5 | g.138428031T>G | CA446595374 | KDM3B | c.4698T>G (p.Ala1566=) c.2114T>G (n.2114T>G) n.521T>G c.4408T>G (n.4408T>G) c.1692T>G (p.Ala564=) c.4098T>G (p.Ala1366=) c.4566T>G (p.Ala1522=) c.4554T>G (p.Ala1518=) c.3951T>G (p.Ala1317=) c.4224T>G (p.Ala1408=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138428031T= | CA1585838037 | KDM3B | c.4698T= (p.Ala1566=) c.2114T= (n.2114T=) n.521T= c.4408T= (n.4408T=) c.1692T= (p.Ala564=) c.4098T= (p.Ala1366=) c.4566T= (p.Ala1522=) c.4554T= (p.Ala1518=) c.3951T= (p.Ala1317=) c.4224T= (p.Ala1408=) | |
| 5 | g.138428031_138428032delinsTG | CA1585838036 | KDM3B | c.4698_4699delinsTG (p.Ala1566=) c.2114_2115delinsTG (n.2114_2115delinsTG) n.521_522delinsTG c.4408_4409delinsTG (n.4408_4409delinsTG) c.1692_1693delinsTG (p.Ala564=) c.4098_4099delinsTG (p.Ala1366=) c.4566_4567delinsTG (p.Ala1522=) c.4554_4555delinsTG (p.Ala1518=) c.3951_3952delinsTG (p.Ala1317=) c.4224_4225delinsTG (p.Ala1408=) | |
| 5 | g.138428032del | CA563282212 | KDM3B | c.4699del (p.Val1567LeufsTer3) c.2115del (n.2115del) n.522del c.4409del (n.4409del) c.1693del (p.Val565LeufsTer3) c.4099del (p.Val1367LeufsTer3) c.4567del (p.Val1523LeufsTer3) c.4555del (p.Val1519LeufsTer3) c.3952del (p.Val1318LeufsTer3) c.4225del (p.Val1409LeufsTer3) | dbSNP gnomAD v2 |
| 5 | g.138428032G>A | CA361094294 | KDM3B | c.4699G>A (p.Val1567Ile) c.2115G>A (n.2115G>A) n.522G>A c.4409G>A (n.4409G>A) c.1693G>A (p.Val565Ile) c.4099G>A (p.Val1367Ile) c.4567G>A (p.Val1523Ile) c.4555G>A (p.Val1519Ile) c.3952G>A (p.Val1318Ile) c.4225G>A (p.Val1409Ile) | gnomAD v4 |
| 5 | g.138428032G>C | CA361094297 | KDM3B | c.4699G>C (p.Val1567Leu) c.2115G>C (n.2115G>C) n.522G>C c.4409G>C (n.4409G>C) c.1693G>C (p.Val565Leu) c.4099G>C (p.Val1367Leu) c.4567G>C (p.Val1523Leu) c.4555G>C (p.Val1519Leu) c.3952G>C (p.Val1318Leu) c.4225G>C (p.Val1409Leu) | |
| 5 | g.138428032G>T | CA361094296 | KDM3B | c.4699G>T (p.Val1567Phe) c.2115G>T (n.2115G>T) n.522G>T c.4409G>T (n.4409G>T) c.1693G>T (p.Val565Phe) c.4099G>T (p.Val1367Phe) c.4567G>T (p.Val1523Phe) c.4555G>T (p.Val1519Phe) c.3952G>T (p.Val1318Phe) c.4225G>T (p.Val1409Phe) | |
| 5 | g.138428033T>A | CA361094301 | KDM3B | c.4700T>A (p.Val1567Asp) c.2116T>A (n.2116T>A) n.523T>A c.4410T>A (n.4410T>A) c.1694T>A (p.Val565Asp) c.4100T>A (p.Val1367Asp) c.4568T>A (p.Val1523Asp) c.4556T>A (p.Val1519Asp) c.3953T>A (p.Val1318Asp) c.4226T>A (p.Val1409Asp) | |
| 5 | g.138428033T>C | CA361094307 | KDM3B | c.4700T>C (p.Val1567Ala) c.2116T>C (n.2116T>C) n.523T>C c.4410T>C (n.4410T>C) c.1694T>C (p.Val565Ala) c.4100T>C (p.Val1367Ala) c.4568T>C (p.Val1523Ala) c.4556T>C (p.Val1519Ala) c.3953T>C (p.Val1318Ala) c.4226T>C (p.Val1409Ala) | |
| 5 | g.138428033T>G | CA361094309 | KDM3B | c.4700T>G (p.Val1567Gly) c.2116T>G (n.2116T>G) n.523T>G c.4410T>G (n.4410T>G) c.1694T>G (p.Val565Gly) c.4100T>G (p.Val1367Gly) c.4568T>G (p.Val1523Gly) c.4556T>G (p.Val1519Gly) c.3953T>G (p.Val1318Gly) c.4226T>G (p.Val1409Gly) | |
| 5 | g.138428034T>A | CA446595379 | KDM3B | c.4701T>A (p.Val1567=) c.2117T>A (n.2117T>A) n.524T>A c.4411T>A (n.4411T>A) c.1695T>A (p.Val565=) c.4101T>A (p.Val1367=) c.4569T>A (p.Val1523=) c.4557T>A (p.Val1519=) c.3954T>A (p.Val1318=) c.4227T>A (p.Val1409=) | |
| 5 | g.138428034T>C | CA446595380 | KDM3B | c.4701T>C (p.Val1567=) c.2117T>C (n.2117T>C) n.524T>C c.4411T>C (n.4411T>C) c.1695T>C (p.Val565=) c.4101T>C (p.Val1367=) c.4569T>C (p.Val1523=) c.4557T>C (p.Val1519=) c.3954T>C (p.Val1318=) c.4227T>C (p.Val1409=) | |
| 5 | g.138428034T>G | CA446595378 | KDM3B | c.4701T>G (p.Val1567=) c.2117T>G (n.2117T>G) n.524T>G c.4411T>G (n.4411T>G) c.1695T>G (p.Val565=) c.4101T>G (p.Val1367=) c.4569T>G (p.Val1523=) c.4557T>G (p.Val1519=) c.3954T>G (p.Val1318=) c.4227T>G (p.Val1409=) | |
| 5 | g.138428035A>C | CA361094311 | KDM3B | c.4702A>C (p.Asn1568His) c.2118A>C (n.2118A>C) n.525A>C c.4412A>C (n.4412A>C) c.1696A>C (p.Asn566His) c.4102A>C (p.Asn1368His) c.4570A>C (p.Asn1524His) c.4558A>C (p.Asn1520His) c.3955A>C (p.Asn1319His) c.4228A>C (p.Asn1410His) | |
| 5 | g.138428035A>G | CA361094312 | KDM3B | c.4702A>G (p.Asn1568Asp) c.2118A>G (n.2118A>G) n.525A>G c.4412A>G (n.4412A>G) c.1696A>G (p.Asn566Asp) c.4102A>G (p.Asn1368Asp) c.4570A>G (p.Asn1524Asp) c.4558A>G (p.Asn1520Asp) c.3955A>G (p.Asn1319Asp) c.4228A>G (p.Asn1410Asp) | |
| 5 | g.138428035A>T | CA361094313 | KDM3B | c.4702A>T (p.Asn1568Tyr) c.2118A>T (n.2118A>T) n.525A>T c.4412A>T (n.4412A>T) c.1696A>T (p.Asn566Tyr) c.4102A>T (p.Asn1368Tyr) c.4570A>T (p.Asn1524Tyr) c.4558A>T (p.Asn1520Tyr) c.3955A>T (p.Asn1319Tyr) c.4228A>T (p.Asn1410Tyr) | |
| 5 | g.138428036A>C | CA361094316 | KDM3B | c.4703A>C (p.Asn1568Thr) c.2119A>C (n.2119A>C) n.526A>C c.4413A>C (n.4413A>C) c.1697A>C (p.Asn566Thr) c.4103A>C (p.Asn1368Thr) c.4571A>C (p.Asn1524Thr) c.4559A>C (p.Asn1520Thr) c.3956A>C (p.Asn1319Thr) c.4229A>C (p.Asn1410Thr) | |
| 5 | g.138428036A>G | CA361094317 | KDM3B | c.4703A>G (p.Asn1568Ser) c.2119A>G (n.2119A>G) n.526A>G c.4413A>G (n.4413A>G) c.1697A>G (p.Asn566Ser) c.4103A>G (p.Asn1368Ser) c.4571A>G (p.Asn1524Ser) c.4559A>G (p.Asn1520Ser) c.3956A>G (p.Asn1319Ser) c.4229A>G (p.Asn1410Ser) | |
| 5 | g.138428036A>T | CA361094319 | KDM3B | c.4703A>T (p.Asn1568Ile) c.2119A>T (n.2119A>T) n.526A>T c.4413A>T (n.4413A>T) c.1697A>T (p.Asn566Ile) c.4103A>T (p.Asn1368Ile) c.4571A>T (p.Asn1524Ile) c.4559A>T (p.Asn1520Ile) c.3956A>T (p.Asn1319Ile) c.4229A>T (p.Asn1410Ile) | |
| 5 | g.138428037T>A | CA361094321 | KDM3B | c.4704T>A (p.Asn1568Lys) c.2120T>A (n.2120T>A) n.527T>A c.4414T>A (n.4414T>A) c.1698T>A (p.Asn566Lys) c.4104T>A (p.Asn1368Lys) c.4572T>A (p.Asn1524Lys) c.4560T>A (p.Asn1520Lys) c.3957T>A (p.Asn1319Lys) c.4230T>A (p.Asn1410Lys) | |
| 5 | g.138428037T>C | CA446595386 | KDM3B | c.4704T>C (p.Asn1568=) c.2120T>C (n.2120T>C) n.527T>C c.4414T>C (n.4414T>C) c.1698T>C (p.Asn566=) c.4104T>C (p.Asn1368=) c.4572T>C (p.Asn1524=) c.4560T>C (p.Asn1520=) c.3957T>C (p.Asn1319=) c.4230T>C (p.Asn1410=) | |
| 5 | g.138428037T>G | CA361094323 | KDM3B | c.4704T>G (p.Asn1568Lys) c.2120T>G (n.2120T>G) n.527T>G c.4414T>G (n.4414T>G) c.1698T>G (p.Asn566Lys) c.4104T>G (p.Asn1368Lys) c.4572T>G (p.Asn1524Lys) c.4560T>G (p.Asn1520Lys) c.3957T>G (p.Asn1319Lys) c.4230T>G (p.Asn1410Lys) | |
| 5 | g.138428038G>A | CA361094329 | KDM3B | c.4705G>A (p.Val1569Met) c.2121G>A (n.2121G>A) n.528G>A c.4415G>A (n.4415G>A) c.1699G>A (p.Val567Met) c.4105G>A (p.Val1369Met) c.4573G>A (p.Val1525Met) c.4561G>A (p.Val1521Met) c.3958G>A (p.Val1320Met) c.4231G>A (p.Val1411Met) | |
| 5 | g.138428038G>C | CA361094327 | KDM3B | c.4705G>C (p.Val1569Leu) c.2121G>C (n.2121G>C) n.528G>C c.4415G>C (n.4415G>C) c.1699G>C (p.Val567Leu) c.4105G>C (p.Val1369Leu) c.4573G>C (p.Val1525Leu) c.4561G>C (p.Val1521Leu) c.3958G>C (p.Val1320Leu) c.4231G>C (p.Val1411Leu) | |
| 5 | g.138428038G>T | CA361094325 | KDM3B | c.4705G>T (p.Val1569Leu) c.2121G>T (n.2121G>T) n.528G>T c.4415G>T (n.4415G>T) c.1699G>T (p.Val567Leu) c.4105G>T (p.Val1369Leu) c.4573G>T (p.Val1525Leu) c.4561G>T (p.Val1521Leu) c.3958G>T (p.Val1320Leu) c.4231G>T (p.Val1411Leu) | |
| 5 | g.138428039T>A | CA361094331 | KDM3B | c.4706T>A (p.Val1569Glu) c.2122T>A (n.2122T>A) n.529T>A c.4416T>A (n.4416T>A) c.1700T>A (p.Val567Glu) c.4106T>A (p.Val1369Glu) c.4574T>A (p.Val1525Glu) c.4562T>A (p.Val1521Glu) c.3959T>A (p.Val1320Glu) c.4232T>A (p.Val1411Glu) | |
| 5 | g.138428039T>C | CA361094333 | KDM3B | c.4706T>C (p.Val1569Ala) c.2122T>C (n.2122T>C) n.529T>C c.4416T>C (n.4416T>C) c.1700T>C (p.Val567Ala) c.4106T>C (p.Val1369Ala) c.4574T>C (p.Val1525Ala) c.4562T>C (p.Val1521Ala) c.3959T>C (p.Val1320Ala) c.4232T>C (p.Val1411Ala) | |
| 5 | g.138428039T>G | CA361094335 | KDM3B | c.4706T>G (p.Val1569Gly) c.2122T>G (n.2122T>G) n.529T>G c.4416T>G (n.4416T>G) c.1700T>G (p.Val567Gly) c.4106T>G (p.Val1369Gly) c.4574T>G (p.Val1525Gly) c.4562T>G (p.Val1521Gly) c.3959T>G (p.Val1320Gly) c.4232T>G (p.Val1411Gly) | |
| 5 | g.138428042_138428084del | CA2768587533 | KDM3B | c.4709_4751del (p.Met1570LysfsTer15) c.2125_2167del (n.2125_2167del) n.532_574del c.4419_4461del (n.4419_4461del) c.1703_1745del (p.Met568LysfsTer15) c.4109_4151del (p.Met1370LysfsTer15) c.4577_4619del (p.Met1526LysfsTer15) c.4565_4607del (p.Met1522LysfsTer15) c.3962_4004del (p.Met1321LysfsTer15) c.4235_4277del (p.Met1412LysfsTer15) | |
| 5 | g.138428040G>A | CA446595390 | KDM3B | c.4707G>A (p.Val1569=) c.2123G>A (n.2123G>A) n.530G>A c.4417G>A (n.4417G>A) c.1701G>A (p.Val567=) c.4107G>A (p.Val1369=) c.4575G>A (p.Val1525=) c.4563G>A (p.Val1521=) c.3960G>A (p.Val1320=) c.4233G>A (p.Val1411=) | COSMIC |
| 5 | g.138428040G>C | CA446595392 | KDM3B | c.4707G>C (p.Val1569=) c.2123G>C (n.2123G>C) n.530G>C c.4417G>C (n.4417G>C) c.1701G>C (p.Val567=) c.4107G>C (p.Val1369=) c.4575G>C (p.Val1525=) c.4563G>C (p.Val1521=) c.3960G>C (p.Val1320=) c.4233G>C (p.Val1411=) | |
| 5 | g.138428040G>T | CA446595391 | KDM3B | c.4707G>T (p.Val1569=) c.2123G>T (n.2123G>T) n.530G>T c.4417G>T (n.4417G>T) c.1701G>T (p.Val567=) c.4107G>T (p.Val1369=) c.4575G>T (p.Val1525=) c.4563G>T (p.Val1521=) c.3960G>T (p.Val1320=) c.4233G>T (p.Val1411=) | |
| 5 | g.138428041A>C | CA361094338 | KDM3B | c.4708A>C (p.Met1570Leu) c.2124A>C (n.2124A>C) n.531A>C c.4418A>C (n.4418A>C) c.1702A>C (p.Met568Leu) c.4108A>C (p.Met1370Leu) c.4576A>C (p.Met1526Leu) c.4564A>C (p.Met1522Leu) c.3961A>C (p.Met1321Leu) c.4234A>C (p.Met1412Leu) | |
| 5 | g.138428041A>G | CA361094339 | KDM3B | c.4708A>G (p.Met1570Val) c.2124A>G (n.2124A>G) n.531A>G c.4418A>G (n.4418A>G) c.1702A>G (p.Met568Val) c.4108A>G (p.Met1370Val) c.4576A>G (p.Met1526Val) c.4564A>G (p.Met1522Val) c.3961A>G (p.Met1321Val) c.4234A>G (p.Met1412Val) | gnomAD v4 |
| 5 | g.138428041A>T | CA361094341 | KDM3B | c.4708A>T (p.Met1570Leu) c.2124A>T (n.2124A>T) n.531A>T c.4418A>T (n.4418A>T) c.1702A>T (p.Met568Leu) c.4108A>T (p.Met1370Leu) c.4576A>T (p.Met1526Leu) c.4564A>T (p.Met1522Leu) c.3961A>T (p.Met1321Leu) c.4234A>T (p.Met1412Leu) | |
| 5 | g.138428042T>A | CA361094343 | KDM3B | c.4709T>A (p.Met1570Lys) c.2125T>A (n.2125T>A) n.532T>A c.4419T>A (n.4419T>A) c.1703T>A (p.Met568Lys) c.4109T>A (p.Met1370Lys) c.4577T>A (p.Met1526Lys) c.4565T>A (p.Met1522Lys) c.3962T>A (p.Met1321Lys) c.4235T>A (p.Met1412Lys) | |
| 5 | g.138428042T>C | CA361094345 | KDM3B | c.4709T>C (p.Met1570Thr) c.2125T>C (n.2125T>C) n.532T>C c.4419T>C (n.4419T>C) c.1703T>C (p.Met568Thr) c.4109T>C (p.Met1370Thr) c.4577T>C (p.Met1526Thr) c.4565T>C (p.Met1522Thr) c.3962T>C (p.Met1321Thr) c.4235T>C (p.Met1412Thr) | |
| 5 | g.138428042T>G | CA361094347 | KDM3B | c.4709T>G (p.Met1570Arg) c.2125T>G (n.2125T>G) n.532T>G c.4419T>G (n.4419T>G) c.1703T>G (p.Met568Arg) c.4109T>G (p.Met1370Arg) c.4577T>G (p.Met1526Arg) c.4565T>G (p.Met1522Arg) c.3962T>G (p.Met1321Arg) c.4235T>G (p.Met1412Arg) | |
| 5 | g.138428043G>A | CA361094350 | KDM3B | c.4710G>A (p.Met1570Ile) c.2126G>A (n.2126G>A) n.533G>A c.4420G>A (n.4420G>A) c.1704G>A (p.Met568Ile) c.4110G>A (p.Met1370Ile) c.4578G>A (p.Met1526Ile) c.4566G>A (p.Met1522Ile) c.3963G>A (p.Met1321Ile) c.4236G>A (p.Met1412Ile) | |
| 5 | g.138428043G>C | CA361094352 | KDM3B | c.4710G>C (p.Met1570Ile) c.2126G>C (n.2126G>C) n.533G>C c.4420G>C (n.4420G>C) c.1704G>C (p.Met568Ile) c.4110G>C (p.Met1370Ile) c.4578G>C (p.Met1526Ile) c.4566G>C (p.Met1522Ile) c.3963G>C (p.Met1321Ile) c.4236G>C (p.Met1412Ile) | |
| 5 | g.138428043G>T | CA361094354 | KDM3B | c.4710G>T (p.Met1570Ile) c.2126G>T (n.2126G>T) n.533G>T c.4420G>T (n.4420G>T) c.1704G>T (p.Met568Ile) c.4110G>T (p.Met1370Ile) c.4578G>T (p.Met1526Ile) c.4566G>T (p.Met1522Ile) c.3963G>T (p.Met1321Ile) c.4236G>T (p.Met1412Ile) | |
| 5 | g.138428044del | CA2578419196 | KDM3B | c.4711del (p.Val1571CysfsTer28) c.2127del (n.2127del) n.534del c.4421del (n.4421del) c.1705del (p.Val569CysfsTer28) c.4111del (p.Val1371CysfsTer28) c.4579del (p.Val1527CysfsTer28) c.4567del (p.Val1523CysfsTer28) c.3964del (p.Val1322CysfsTer28) c.4237del (p.Val1413CysfsTer28) | |
| 5 | g.138428044G>A | CA361094358 | KDM3B | c.4711G>A (p.Val1571Met) c.2127G>A (n.2127G>A) n.534G>A c.4421G>A (n.4421G>A) c.1705G>A (p.Val569Met) c.4111G>A (p.Val1371Met) c.4579G>A (p.Val1527Met) c.4567G>A (p.Val1523Met) c.3964G>A (p.Val1322Met) c.4237G>A (p.Val1413Met) | |
| 5 | g.138428044G>C | CA361094360 | KDM3B | c.4711G>C (p.Val1571Leu) c.2127G>C (n.2127G>C) n.534G>C c.4421G>C (n.4421G>C) c.1705G>C (p.Val569Leu) c.4111G>C (p.Val1371Leu) c.4579G>C (p.Val1527Leu) c.4567G>C (p.Val1523Leu) c.3964G>C (p.Val1322Leu) c.4237G>C (p.Val1413Leu) | |
| 5 | g.138428044G>T | CA361094356 | KDM3B | c.4711G>T (p.Val1571Leu) c.2127G>T (n.2127G>T) n.534G>T c.4421G>T (n.4421G>T) c.1705G>T (p.Val569Leu) c.4111G>T (p.Val1371Leu) c.4579G>T (p.Val1527Leu) c.4567G>T (p.Val1523Leu) c.3964G>T (p.Val1322Leu) c.4237G>T (p.Val1413Leu) | |
| 5 | g.138428045T>A | CA361094362 | KDM3B | c.4712T>A (p.Val1571Glu) c.2128T>A (n.2128T>A) n.535T>A c.4422T>A (n.4422T>A) c.1706T>A (p.Val569Glu) c.4112T>A (p.Val1371Glu) c.4580T>A (p.Val1527Glu) c.4568T>A (p.Val1523Glu) c.3965T>A (p.Val1322Glu) c.4238T>A (p.Val1413Glu) | |
| 5 | g.138428045T>C | CA361094364 | KDM3B | c.4712T>C (p.Val1571Ala) c.2128T>C (n.2128T>C) n.535T>C c.4422T>C (n.4422T>C) c.1706T>C (p.Val569Ala) c.4112T>C (p.Val1371Ala) c.4580T>C (p.Val1527Ala) c.4568T>C (p.Val1523Ala) c.3965T>C (p.Val1322Ala) c.4238T>C (p.Val1413Ala) | |
| 5 | g.138428045T>G | CA361094366 | KDM3B | c.4712T>G (p.Val1571Gly) c.2128T>G (n.2128T>G) n.535T>G c.4422T>G (n.4422T>G) c.1706T>G (p.Val569Gly) c.4112T>G (p.Val1371Gly) c.4580T>G (p.Val1527Gly) c.4568T>G (p.Val1523Gly) c.3965T>G (p.Val1322Gly) c.4238T>G (p.Val1413Gly) | |
| 5 | g.138428046G>A | CA446595403 | KDM3B | c.4713G>A (p.Val1571=) c.2129G>A (n.2129G>A) n.536G>A c.4423G>A (n.4423G>A) c.1707G>A (p.Val569=) c.4113G>A (p.Val1371=) c.4581G>A (p.Val1527=) c.4569G>A (p.Val1523=) c.3966G>A (p.Val1322=) c.4239G>A (p.Val1413=) | |
| 5 | g.138428046G>C | CA446595405 | KDM3B | c.4713G>C (p.Val1571=) c.2129G>C (n.2129G>C) n.536G>C c.4423G>C (n.4423G>C) c.1707G>C (p.Val569=) c.4113G>C (p.Val1371=) c.4581G>C (p.Val1527=) c.4569G>C (p.Val1523=) c.3966G>C (p.Val1322=) c.4239G>C (p.Val1413=) | |
| 5 | g.138428046G>T | CA446595406 | KDM3B | c.4713G>T (p.Val1571=) c.2129G>T (n.2129G>T) n.536G>T c.4423G>T (n.4423G>T) c.1707G>T (p.Val569=) c.4113G>T (p.Val1371=) c.4581G>T (p.Val1527=) c.4569G>T (p.Val1523=) c.3966G>T (p.Val1322=) c.4239G>T (p.Val1413=) | gnomAD v4 |
| 5 | g.138428047T>A | CA361094368 | KDM3B | c.4714T>A (p.Tyr1572Asn) c.2130T>A (n.2130T>A) n.537T>A c.4424T>A (n.4424T>A) c.1708T>A (p.Tyr570Asn) c.4114T>A (p.Tyr1372Asn) c.4582T>A (p.Tyr1528Asn) c.4570T>A (p.Tyr1524Asn) c.3967T>A (p.Tyr1323Asn) c.4240T>A (p.Tyr1414Asn) | |
| 5 | g.138428047T>C | CA361094369 | KDM3B | c.4714T>C (p.Tyr1572His) c.2130T>C (n.2130T>C) n.537T>C c.4424T>C (n.4424T>C) c.1708T>C (p.Tyr570His) c.4114T>C (p.Tyr1372His) c.4582T>C (p.Tyr1528His) c.4570T>C (p.Tyr1524His) c.3967T>C (p.Tyr1323His) c.4240T>C (p.Tyr1414His) | |
| 5 | g.138428047T>G | CA361094372 | KDM3B | c.4714T>G (p.Tyr1572Asp) c.2130T>G (n.2130T>G) n.537T>G c.4424T>G (n.4424T>G) c.1708T>G (p.Tyr570Asp) c.4114T>G (p.Tyr1372Asp) c.4582T>G (p.Tyr1528Asp) c.4570T>G (p.Tyr1524Asp) c.3967T>G (p.Tyr1323Asp) c.4240T>G (p.Tyr1414Asp) | |
| 5 | g.138428048A>C | CA361094378 | KDM3B | c.4715A>C (p.Tyr1572Ser) c.2131A>C (n.2131A>C) n.538A>C c.4425A>C (n.4425A>C) c.1709A>C (p.Tyr570Ser) c.4115A>C (p.Tyr1372Ser) c.4583A>C (p.Tyr1528Ser) c.4571A>C (p.Tyr1524Ser) c.3968A>C (p.Tyr1323Ser) c.4241A>C (p.Tyr1414Ser) | |
| 5 | g.138428048A>G | CA361094375 | KDM3B | c.4715A>G (p.Tyr1572Cys) c.2131A>G (n.2131A>G) n.538A>G c.4425A>G (n.4425A>G) c.1709A>G (p.Tyr570Cys) c.4115A>G (p.Tyr1372Cys) c.4583A>G (p.Tyr1528Cys) c.4571A>G (p.Tyr1524Cys) c.3968A>G (p.Tyr1323Cys) c.4241A>G (p.Tyr1414Cys) | |
| 5 | g.138428048A>T | CA361094376 | KDM3B | c.4715A>T (p.Tyr1572Phe) c.2131A>T (n.2131A>T) n.538A>T c.4425A>T (n.4425A>T) c.1709A>T (p.Tyr570Phe) c.4115A>T (p.Tyr1372Phe) c.4583A>T (p.Tyr1528Phe) c.4571A>T (p.Tyr1524Phe) c.3968A>T (p.Tyr1323Phe) c.4241A>T (p.Tyr1414Phe) | |
| 5 | g.138428049T>A | CA361094380 | KDM3B | c.4716T>A (p.Tyr1572Ter) c.2132T>A (n.2132T>A) n.539T>A c.4426T>A (n.4426T>A) c.1710T>A (p.Tyr570Ter) c.4116T>A (p.Tyr1372Ter) c.4584T>A (p.Tyr1528Ter) c.4572T>A (p.Tyr1524Ter) c.3969T>A (p.Tyr1323Ter) c.4242T>A (p.Tyr1414Ter) | |
| 5 | g.138428049T>C | CA128185572 | KDM3B | c.4716T>C (p.Tyr1572=) c.2132T>C (n.2132T>C) n.539T>C c.4426T>C (n.4426T>C) c.1710T>C (p.Tyr570=) c.4116T>C (p.Tyr1372=) c.4584T>C (p.Tyr1528=) c.4572T>C (p.Tyr1524=) c.3969T>C (p.Tyr1323=) c.4242T>C (p.Tyr1414=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138428049T>G | CA361094381 | KDM3B | c.4716T>G (p.Tyr1572Ter) c.2132T>G (n.2132T>G) n.539T>G c.4426T>G (n.4426T>G) c.1710T>G (p.Tyr570Ter) c.4116T>G (p.Tyr1372Ter) c.4584T>G (p.Tyr1528Ter) c.4572T>G (p.Tyr1524Ter) c.3969T>G (p.Tyr1323Ter) c.4242T>G (p.Tyr1414Ter) | |
| 5 | g.138428049T= | CA1585838038 | KDM3B | c.4716T= (p.Tyr1572=) c.2132T= (n.2132T=) n.539T= c.4426T= (n.4426T=) c.1710T= (p.Tyr570=) c.4116T= (p.Tyr1372=) c.4584T= (p.Tyr1528=) c.4572T= (p.Tyr1524=) c.3969T= (p.Tyr1323=) c.4242T= (p.Tyr1414=) | |
| 5 | g.138428050G>A | CA361094383 | KDM3B | c.4717G>A (p.Val1573Ile) c.2133G>A (n.2133G>A) n.540G>A c.4427G>A (n.4427G>A) c.1711G>A (p.Val571Ile) c.4117G>A (p.Val1373Ile) c.4585G>A (p.Val1529Ile) c.4573G>A (p.Val1525Ile) c.3970G>A (p.Val1324Ile) c.4243G>A (p.Val1415Ile) | |
| 5 | g.138428050G>C | CA361094385 | KDM3B | c.4717G>C (p.Val1573Leu) c.2133G>C (n.2133G>C) n.540G>C c.4427G>C (n.4427G>C) c.1711G>C (p.Val571Leu) c.4117G>C (p.Val1373Leu) c.4585G>C (p.Val1529Leu) c.4573G>C (p.Val1525Leu) c.3970G>C (p.Val1324Leu) c.4243G>C (p.Val1415Leu) | |
| 5 | g.138428050G>T | CA361094387 | KDM3B | c.4717G>T (p.Val1573Phe) c.2133G>T (n.2133G>T) n.540G>T c.4427G>T (n.4427G>T) c.1711G>T (p.Val571Phe) c.4117G>T (p.Val1373Phe) c.4585G>T (p.Val1529Phe) c.4573G>T (p.Val1525Phe) c.3970G>T (p.Val1324Phe) c.4243G>T (p.Val1415Phe) | |
| 5 | g.138428051T>A | CA361094393 | KDM3B | c.4718T>A (p.Val1573Asp) c.2134T>A (n.2134T>A) n.541T>A c.4428T>A (n.4428T>A) c.1712T>A (p.Val571Asp) c.4118T>A (p.Val1373Asp) c.4586T>A (p.Val1529Asp) c.4574T>A (p.Val1525Asp) c.3971T>A (p.Val1324Asp) c.4244T>A (p.Val1415Asp) | |
| 5 | g.138428051T>C | CA361094389 | KDM3B | c.4718T>C (p.Val1573Ala) c.2134T>C (n.2134T>C) n.541T>C c.4428T>C (n.4428T>C) c.1712T>C (p.Val571Ala) c.4118T>C (p.Val1373Ala) c.4586T>C (p.Val1529Ala) c.4574T>C (p.Val1525Ala) c.3971T>C (p.Val1324Ala) c.4244T>C (p.Val1415Ala) | |
| 5 | g.138428051T>G | CA361094391 | KDM3B | c.4718T>G (p.Val1573Gly) c.2134T>G (n.2134T>G) n.541T>G c.4428T>G (n.4428T>G) c.1712T>G (p.Val571Gly) c.4118T>G (p.Val1373Gly) c.4586T>G (p.Val1529Gly) c.4574T>G (p.Val1525Gly) c.3971T>G (p.Val1324Gly) c.4244T>G (p.Val1415Gly) | |
| 5 | g.138428052T>A | CA446595414 | KDM3B | c.4719T>A (p.Val1573=) c.2135T>A (n.2135T>A) n.542T>A c.4429T>A (n.4429T>A) c.1713T>A (p.Val571=) c.4119T>A (p.Val1373=) c.4587T>A (p.Val1529=) c.4575T>A (p.Val1525=) c.3972T>A (p.Val1324=) c.4245T>A (p.Val1415=) | |
| 5 | g.138428052T>C | CA446595415 | KDM3B | c.4719T>C (p.Val1573=) c.2135T>C (n.2135T>C) n.542T>C c.4429T>C (n.4429T>C) c.1713T>C (p.Val571=) c.4119T>C (p.Val1373=) c.4587T>C (p.Val1529=) c.4575T>C (p.Val1525=) c.3972T>C (p.Val1324=) c.4245T>C (p.Val1415=) | |
| 5 | g.138428052T>G | CA446595416 | KDM3B | c.4719T>G (p.Val1573=) c.2135T>G (n.2135T>G) n.542T>G c.4429T>G (n.4429T>G) c.1713T>G (p.Val571=) c.4119T>G (p.Val1373=) c.4587T>G (p.Val1529=) c.4575T>G (p.Val1525=) c.3972T>G (p.Val1324=) c.4245T>G (p.Val1415=) | gnomAD v2 gnomAD v4 |
| 5 | g.138428053G>A | CA361094395 | KDM3B | c.4720G>A (p.Gly1574Arg) c.2136G>A (n.2136G>A) n.543G>A c.4430G>A (n.4430G>A) c.1714G>A (p.Gly572Arg) c.4120G>A (p.Gly1374Arg) c.4588G>A (p.Gly1530Arg) c.4576G>A (p.Gly1526Arg) c.3973G>A (p.Gly1325Arg) c.4246G>A (p.Gly1416Arg) | COSMIC |
| 5 | g.138428053G>C | CA361094397 | KDM3B | c.4720G>C (p.Gly1574Arg) c.2136G>C (n.2136G>C) n.543G>C c.4430G>C (n.4430G>C) c.1714G>C (p.Gly572Arg) c.4120G>C (p.Gly1374Arg) c.4588G>C (p.Gly1530Arg) c.4576G>C (p.Gly1526Arg) c.3973G>C (p.Gly1325Arg) c.4246G>C (p.Gly1416Arg) | |
| 5 | g.138428053G>T | CA361094400 | KDM3B | c.4720G>T (p.Gly1574Trp) c.2136G>T (n.2136G>T) n.543G>T c.4430G>T (n.4430G>T) c.1714G>T (p.Gly572Trp) c.4120G>T (p.Gly1374Trp) c.4588G>T (p.Gly1530Trp) c.4576G>T (p.Gly1526Trp) c.3973G>T (p.Gly1325Trp) c.4246G>T (p.Gly1416Trp) | |
| 5 | g.138428054G>A | CA361094403 | KDM3B | c.4721G>A (p.Gly1574Glu) c.2137G>A (n.2137G>A) n.544G>A c.4431G>A (n.4431G>A) c.1715G>A (p.Gly572Glu) c.4121G>A (p.Gly1374Glu) c.4589G>A (p.Gly1530Glu) c.4577G>A (p.Gly1526Glu) c.3974G>A (p.Gly1325Glu) c.4247G>A (p.Gly1416Glu) | |
| 5 | g.138428054G>C | CA361094404 | KDM3B | c.4721G>C (p.Gly1574Ala) c.2137G>C (n.2137G>C) n.544G>C c.4431G>C (n.4431G>C) c.1715G>C (p.Gly572Ala) c.4121G>C (p.Gly1374Ala) c.4589G>C (p.Gly1530Ala) c.4577G>C (p.Gly1526Ala) c.3974G>C (p.Gly1325Ala) c.4247G>C (p.Gly1416Ala) | |
| 5 | g.138428054G>T | CA361094407 | KDM3B | c.4721G>T (p.Gly1574Val) c.2137G>T (n.2137G>T) n.544G>T c.4431G>T (n.4431G>T) c.1715G>T (p.Gly572Val) c.4121G>T (p.Gly1374Val) c.4589G>T (p.Gly1530Val) c.4577G>T (p.Gly1526Val) c.3974G>T (p.Gly1325Val) c.4247G>T (p.Gly1416Val) | |
| 5 | g.138428055G>A | CA446595418 | KDM3B | c.4722G>A (p.Gly1574=) c.2138G>A (n.2138G>A) n.545G>A c.4432G>A (n.4432G>A) c.1716G>A (p.Gly572=) c.4122G>A (p.Gly1374=) c.4590G>A (p.Gly1530=) c.4578G>A (p.Gly1526=) c.3975G>A (p.Gly1325=) c.4248G>A (p.Gly1416=) | gnomAD v4 |
| 5 | g.138428055G>C | CA446595421 | KDM3B | c.4722G>C (p.Gly1574=) c.2138G>C (n.2138G>C) n.545G>C c.4432G>C (n.4432G>C) c.1716G>C (p.Gly572=) c.4122G>C (p.Gly1374=) c.4590G>C (p.Gly1530=) c.4578G>C (p.Gly1526=) c.3975G>C (p.Gly1325=) c.4248G>C (p.Gly1416=) | |
| 5 | g.138428055G>T | CA446595420 | KDM3B | c.4722G>T (p.Gly1574=) c.2138G>T (n.2138G>T) n.545G>T c.4432G>T (n.4432G>T) c.1716G>T (p.Gly572=) c.4122G>T (p.Gly1374=) c.4590G>T (p.Gly1530=) c.4578G>T (p.Gly1526=) c.3975G>T (p.Gly1325=) c.4248G>T (p.Gly1416=) | |
| 5 | g.138428056A>C | CA361094409 | KDM3B | c.4723A>C (p.Ile1575Leu) c.2139A>C (n.2139A>C) n.546A>C c.4433A>C (n.4433A>C) c.1717A>C (p.Ile573Leu) c.4123A>C (p.Ile1375Leu) c.4591A>C (p.Ile1531Leu) c.4579A>C (p.Ile1527Leu) c.3976A>C (p.Ile1326Leu) c.4249A>C (p.Ile1417Leu) | |
| 5 | g.138428056A>G | CA361094410 | KDM3B | c.4723A>G (p.Ile1575Val) c.2139A>G (n.2139A>G) n.546A>G c.4433A>G (n.4433A>G) c.1717A>G (p.Ile573Val) c.4123A>G (p.Ile1375Val) c.4591A>G (p.Ile1531Val) c.4579A>G (p.Ile1527Val) c.3976A>G (p.Ile1326Val) c.4249A>G (p.Ile1417Val) | |
| 5 | g.138428056A>T | CA361094413 | KDM3B | c.4723A>T (p.Ile1575Phe) c.2139A>T (n.2139A>T) n.546A>T c.4433A>T (n.4433A>T) c.1717A>T (p.Ile573Phe) c.4123A>T (p.Ile1375Phe) c.4591A>T (p.Ile1531Phe) c.4579A>T (p.Ile1527Phe) c.3976A>T (p.Ile1326Phe) c.4249A>T (p.Ile1417Phe) | |
| 5 | g.138428057T>A | CA361094416 | KDM3B | c.4724T>A (p.Ile1575Asn) c.2140T>A (n.2140T>A) n.547T>A c.4434T>A (n.4434T>A) c.1718T>A (p.Ile573Asn) c.4124T>A (p.Ile1375Asn) c.4592T>A (p.Ile1531Asn) c.4580T>A (p.Ile1527Asn) c.3977T>A (p.Ile1326Asn) c.4250T>A (p.Ile1417Asn) | |
| 5 | g.138428057T>C | CA361094419 | KDM3B | c.4724T>C (p.Ile1575Thr) c.2140T>C (n.2140T>C) n.547T>C c.4434T>C (n.4434T>C) c.1718T>C (p.Ile573Thr) c.4124T>C (p.Ile1375Thr) c.4592T>C (p.Ile1531Thr) c.4580T>C (p.Ile1527Thr) c.3977T>C (p.Ile1326Thr) c.4250T>C (p.Ile1417Thr) | |
| 5 | g.138428057T>G | CA361094421 | KDM3B | c.4724T>G (p.Ile1575Ser) c.2140T>G (n.2140T>G) n.547T>G c.4434T>G (n.4434T>G) c.1718T>G (p.Ile573Ser) c.4124T>G (p.Ile1375Ser) c.4592T>G (p.Ile1531Ser) c.4580T>G (p.Ile1527Ser) c.3977T>G (p.Ile1326Ser) c.4250T>G (p.Ile1417Ser) | |
| 5 | g.138428058T>A | CA446595424 | KDM3B | c.4725T>A (p.Ile1575=) c.2141T>A (n.2141T>A) n.548T>A c.4435T>A (n.4435T>A) c.1719T>A (p.Ile573=) c.4125T>A (p.Ile1375=) c.4593T>A (p.Ile1531=) c.4581T>A (p.Ile1527=) c.3978T>A (p.Ile1326=) c.4251T>A (p.Ile1417=) | |
| 5 | g.138428058T>C | CA446595425 | KDM3B | c.4725T>C (p.Ile1575=) c.2141T>C (n.2141T>C) n.548T>C c.4435T>C (n.4435T>C) c.1719T>C (p.Ile573=) c.4125T>C (p.Ile1375=) c.4593T>C (p.Ile1531=) c.4581T>C (p.Ile1527=) c.3978T>C (p.Ile1326=) c.4251T>C (p.Ile1417=) | dbSNP |
| 5 | g.138428058T>G | CA361094424 | KDM3B | c.4725T>G (p.Ile1575Met) c.2141T>G (n.2141T>G) n.548T>G c.4435T>G (n.4435T>G) c.1719T>G (p.Ile573Met) c.4125T>G (p.Ile1375Met) c.4593T>G (p.Ile1531Met) c.4581T>G (p.Ile1527Met) c.3978T>G (p.Ile1326Met) c.4251T>G (p.Ile1417Met) | |
| 5 | g.138428058T= | CA1585838039 | KDM3B | c.4725T= (p.Ile1575=) c.2141T= (n.2141T=) n.548T= c.4435T= (n.4435T=) c.1719T= (p.Ile573=) c.4125T= (p.Ile1375=) c.4593T= (p.Ile1531=) c.4581T= (p.Ile1527=) c.3978T= (p.Ile1326=) c.4251T= (p.Ile1417=) | |
| 5 | g.138428059C>A | CA361094427 | KDM3B | c.4726C>A (p.Pro1576Thr) c.2142C>A (n.2142C>A) n.549C>A c.4436C>A (n.4436C>A) c.1720C>A (p.Pro574Thr) c.4126C>A (p.Pro1376Thr) c.4594C>A (p.Pro1532Thr) c.4582C>A (p.Pro1528Thr) c.3979C>A (p.Pro1327Thr) c.4252C>A (p.Pro1418Thr) | |
| 5 | g.138428059C>G | CA361094432 | KDM3B | c.4726C>G (p.Pro1576Ala) c.2142C>G (n.2142C>G) n.549C>G c.4436C>G (n.4436C>G) c.1720C>G (p.Pro574Ala) c.4126C>G (p.Pro1376Ala) c.4594C>G (p.Pro1532Ala) c.4582C>G (p.Pro1528Ala) c.3979C>G (p.Pro1327Ala) c.4252C>G (p.Pro1418Ala) | |
| 5 | g.138428059C>T | CA361094430 | KDM3B | c.4726C>T (p.Pro1576Ser) c.2142C>T (n.2142C>T) n.549C>T c.4436C>T (n.4436C>T) c.1720C>T (p.Pro574Ser) c.4126C>T (p.Pro1376Ser) c.4594C>T (p.Pro1532Ser) c.4582C>T (p.Pro1528Ser) c.3979C>T (p.Pro1327Ser) c.4252C>T (p.Pro1418Ser) | |
| 5 | g.138428059_138428060delinsTT | CA645548290 | KDM3B | c.4726_4727delinsTT (p.Pro1576Phe) c.2142_2143delinsTT (n.2142_2143delinsTT) n.549_550delinsTT c.4436_4437delinsTT (n.4436_4437delinsTT) c.1720_1721delinsTT (p.Pro574Phe) c.4126_4127delinsTT (p.Pro1376Phe) c.4594_4595delinsTT (p.Pro1532Phe) c.4582_4583delinsTT (p.Pro1528Phe) c.3979_3980delinsTT (p.Pro1327Phe) c.4252_4253delinsTT (p.Pro1418Phe) | COSMIC |
| 5 | g.138428060C>A | CA361094435 | KDM3B | c.4727C>A (p.Pro1576His) c.2143C>A (n.2143C>A) n.550C>A c.4437C>A (n.4437C>A) c.1721C>A (p.Pro574His) c.4127C>A (p.Pro1376His) c.4595C>A (p.Pro1532His) c.4583C>A (p.Pro1528His) c.3980C>A (p.Pro1327His) c.4253C>A (p.Pro1418His) | |
| 5 | g.138428060C>G | CA361094438 | KDM3B | c.4727C>G (p.Pro1576Arg) c.2143C>G (n.2143C>G) n.550C>G c.4437C>G (n.4437C>G) c.1721C>G (p.Pro574Arg) c.4127C>G (p.Pro1376Arg) c.4595C>G (p.Pro1532Arg) c.4583C>G (p.Pro1528Arg) c.3980C>G (p.Pro1327Arg) c.4253C>G (p.Pro1418Arg) | |
| 5 | g.138428060C>T | CA361094441 | KDM3B | c.4727C>T (p.Pro1576Leu) c.2143C>T (n.2143C>T) n.550C>T c.4437C>T (n.4437C>T) c.1721C>T (p.Pro574Leu) c.4127C>T (p.Pro1376Leu) c.4595C>T (p.Pro1532Leu) c.4583C>T (p.Pro1528Leu) c.3980C>T (p.Pro1327Leu) c.4253C>T (p.Pro1418Leu) | |
| 5 | g.138428061C>A | CA446595428 | KDM3B | c.4728C>A (p.Pro1576=) c.2144C>A (n.2144C>A) n.551C>A c.4438C>A (n.4438C>A) c.1722C>A (p.Pro574=) c.4128C>A (p.Pro1376=) c.4596C>A (p.Pro1532=) c.4584C>A (p.Pro1528=) c.3981C>A (p.Pro1327=) c.4254C>A (p.Pro1418=) | |
| 5 | g.138428061C= | CA1585838040 | KDM3B | c.4728C= (p.Pro1576=) c.2144C= (n.2144C=) n.551C= c.4438C= (n.4438C=) c.1722C= (p.Pro574=) c.4128C= (p.Pro1376=) c.4596C= (p.Pro1532=) c.4584C= (p.Pro1528=) c.3981C= (p.Pro1327=) c.4254C= (p.Pro1418=) | |
| 5 | g.138428061C>G | CA446595430 | KDM3B | c.4728C>G (p.Pro1576=) c.2144C>G (n.2144C>G) n.551C>G c.4438C>G (n.4438C>G) c.1722C>G (p.Pro574=) c.4128C>G (p.Pro1376=) c.4596C>G (p.Pro1532=) c.4584C>G (p.Pro1528=) c.3981C>G (p.Pro1327=) c.4254C>G (p.Pro1418=) | |
| 5 | g.138428061C>T | CA446595431 | KDM3B | c.4728C>T (p.Pro1576=) c.2144C>T (n.2144C>T) n.551C>T c.4438C>T (n.4438C>T) c.1722C>T (p.Pro574=) c.4128C>T (p.Pro1376=) c.4596C>T (p.Pro1532=) c.4584C>T (p.Pro1528=) c.3981C>T (p.Pro1327=) c.4254C>T (p.Pro1418=) | dbSNP |
| 5 | g.138428062A= | CA1585838041 | KDM3B | c.4729A= (p.Ile1577=) c.2145A= (n.2145A=) n.552A= c.4439A= (n.4439A=) c.1723A= (p.Ile575=) c.4129A= (p.Ile1377=) c.4597A= (p.Ile1533=) c.4585A= (p.Ile1529=) c.3982A= (p.Ile1328=) c.4255A= (p.Ile1419=) | |
| 5 | g.138428062A>C | CA361094443 | KDM3B | c.4729A>C (p.Ile1577Leu) c.2145A>C (n.2145A>C) n.552A>C c.4439A>C (n.4439A>C) c.1723A>C (p.Ile575Leu) c.4129A>C (p.Ile1377Leu) c.4597A>C (p.Ile1533Leu) c.4585A>C (p.Ile1529Leu) c.3982A>C (p.Ile1328Leu) c.4255A>C (p.Ile1419Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138428062A>G | CA361094446 | KDM3B | c.4729A>G (p.Ile1577Val) c.2145A>G (n.2145A>G) n.552A>G c.4439A>G (n.4439A>G) c.1723A>G (p.Ile575Val) c.4129A>G (p.Ile1377Val) c.4597A>G (p.Ile1533Val) c.4585A>G (p.Ile1529Val) c.3982A>G (p.Ile1328Val) c.4255A>G (p.Ile1419Val) | dbSNP gnomAD v4 |
| 5 | g.138428062A>T | CA361094448 | KDM3B | c.4729A>T (p.Ile1577Phe) c.2145A>T (n.2145A>T) n.552A>T c.4439A>T (n.4439A>T) c.1723A>T (p.Ile575Phe) c.4129A>T (p.Ile1377Phe) c.4597A>T (p.Ile1533Phe) c.4585A>T (p.Ile1529Phe) c.3982A>T (p.Ile1328Phe) c.4255A>T (p.Ile1419Phe) | |
| 5 | g.138428063T>A | CA361094452 | KDM3B | c.4730T>A (p.Ile1577Asn) c.2146T>A (n.2146T>A) n.553T>A c.4440T>A (n.4440T>A) c.1724T>A (p.Ile575Asn) c.4130T>A (p.Ile1377Asn) c.4598T>A (p.Ile1533Asn) c.4586T>A (p.Ile1529Asn) c.3983T>A (p.Ile1328Asn) c.4256T>A (p.Ile1419Asn) | |
| 5 | g.138428063T>C | CA361094454 | KDM3B | c.4730T>C (p.Ile1577Thr) c.2146T>C (n.2146T>C) n.553T>C c.4440T>C (n.4440T>C) c.1724T>C (p.Ile575Thr) c.4130T>C (p.Ile1377Thr) c.4598T>C (p.Ile1533Thr) c.4586T>C (p.Ile1529Thr) c.3983T>C (p.Ile1328Thr) c.4256T>C (p.Ile1419Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138428063T>G | CA361094456 | KDM3B | c.4730T>G (p.Ile1577Ser) c.2146T>G (n.2146T>G) n.553T>G c.4440T>G (n.4440T>G) c.1724T>G (p.Ile575Ser) c.4130T>G (p.Ile1377Ser) c.4598T>G (p.Ile1533Ser) c.4586T>G (p.Ile1529Ser) c.3983T>G (p.Ile1328Ser) c.4256T>G (p.Ile1419Ser) | |
| 5 | g.138428063T= | CA1585838042 | KDM3B | c.4730T= (p.Ile1577=) c.2146T= (n.2146T=) n.553T= c.4440T= (n.4440T=) c.1724T= (p.Ile575=) c.4130T= (p.Ile1377=) c.4598T= (p.Ile1533=) c.4586T= (p.Ile1529=) c.3983T= (p.Ile1328=) c.4256T= (p.Ile1419=) | |
| 5 | g.138428064C>A | CA446595434 | KDM3B | c.4731C>A (p.Ile1577=) c.2147C>A (n.2147C>A) n.554C>A c.4441C>A (n.4441C>A) c.1725C>A (p.Ile575=) c.4131C>A (p.Ile1377=) c.4599C>A (p.Ile1533=) c.4587C>A (p.Ile1529=) c.3984C>A (p.Ile1328=) c.4257C>A (p.Ile1419=) | |
| 5 | g.138428064C>G | CA361094459 | KDM3B | c.4731C>G (p.Ile1577Met) c.2147C>G (n.2147C>G) n.554C>G c.4441C>G (n.4441C>G) c.1725C>G (p.Ile575Met) c.4131C>G (p.Ile1377Met) c.4599C>G (p.Ile1533Met) c.4587C>G (p.Ile1529Met) c.3984C>G (p.Ile1328Met) c.4257C>G (p.Ile1419Met) | |
| 5 | g.138428064C>T | CA446595435 | KDM3B | c.4731C>T (p.Ile1577=) c.2147C>T (n.2147C>T) n.554C>T c.4441C>T (n.4441C>T) c.1725C>T (p.Ile575=) c.4131C>T (p.Ile1377=) c.4599C>T (p.Ile1533=) c.4587C>T (p.Ile1529=) c.3984C>T (p.Ile1328=) c.4257C>T (p.Ile1419=) | gnomAD v4 COSMIC |
| 5 | g.138428065G>A | CA361094462 | KDM3B | c.4732G>A (p.Gly1578Arg) c.2148G>A (n.2148G>A) n.555G>A c.4442G>A (n.4442G>A) c.1726G>A (p.Gly576Arg) c.4132G>A (p.Gly1378Arg) c.4600G>A (p.Gly1534Arg) c.4588G>A (p.Gly1530Arg) c.3985G>A (p.Gly1329Arg) c.4258G>A (p.Gly1420Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138428065G>C | CA361094464 | KDM3B | c.4732G>C (p.Gly1578Arg) c.2148G>C (n.2148G>C) n.555G>C c.4442G>C (n.4442G>C) c.1726G>C (p.Gly576Arg) c.4132G>C (p.Gly1378Arg) c.4600G>C (p.Gly1534Arg) c.4588G>C (p.Gly1530Arg) c.3985G>C (p.Gly1329Arg) c.4258G>C (p.Gly1420Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138428065G= | CA1585838043 | KDM3B | c.4732G= (p.Gly1578=) c.2148G= (n.2148G=) n.555G= c.4442G= (n.4442G=) c.1726G= (p.Gly576=) c.4132G= (p.Gly1378=) c.4600G= (p.Gly1534=) c.4588G= (p.Gly1530=) c.3985G= (p.Gly1329=) c.4258G= (p.Gly1420=) | |
| 5 | g.138428065G>T | CA361094467 | KDM3B | c.4732G>T (p.Gly1578Trp) c.2148G>T (n.2148G>T) n.555G>T c.4442G>T (n.4442G>T) c.1726G>T (p.Gly576Trp) c.4132G>T (p.Gly1378Trp) c.4600G>T (p.Gly1534Trp) c.4588G>T (p.Gly1530Trp) c.3985G>T (p.Gly1329Trp) c.4258G>T (p.Gly1420Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138428066G>A | CA361094474 | KDM3B | c.4733G>A (p.Gly1578Glu) c.2149G>A (n.2149G>A) n.556G>A c.4443G>A (n.4443G>A) c.1727G>A (p.Gly576Glu) c.4133G>A (p.Gly1378Glu) c.4601G>A (p.Gly1534Glu) c.4589G>A (p.Gly1530Glu) c.3986G>A (p.Gly1329Glu) c.4259G>A (p.Gly1420Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138428066G>C | CA361094470 | KDM3B | c.4733G>C (p.Gly1578Ala) c.2149G>C (n.2149G>C) n.556G>C c.4443G>C (n.4443G>C) c.1727G>C (p.Gly576Ala) c.4133G>C (p.Gly1378Ala) c.4601G>C (p.Gly1534Ala) c.4589G>C (p.Gly1530Ala) c.3986G>C (p.Gly1329Ala) c.4259G>C (p.Gly1420Ala) | |
| 5 | g.138428066G= | CA1585838044 | KDM3B | c.4733G= (p.Gly1578=) c.2149G= (n.2149G=) n.556G= c.4443G= (n.4443G=) c.1727G= (p.Gly576=) c.4133G= (p.Gly1378=) c.4601G= (p.Gly1534=) c.4589G= (p.Gly1530=) c.3986G= (p.Gly1329=) c.4259G= (p.Gly1420=) | |
| 5 | g.138428066G>T | CA361094473 | KDM3B | c.4733G>T (p.Gly1578Val) c.2149G>T (n.2149G>T) n.556G>T c.4443G>T (n.4443G>T) c.1727G>T (p.Gly576Val) c.4133G>T (p.Gly1378Val) c.4601G>T (p.Gly1534Val) c.4589G>T (p.Gly1530Val) c.3986G>T (p.Gly1329Val) c.4259G>T (p.Gly1420Val) | |
| 5 | g.138428067G>A | CA446595439 | KDM3B | c.4734G>A (p.Gly1578=) c.2150G>A (n.2150G>A) n.557G>A c.4444G>A (n.4444G>A) c.1728G>A (p.Gly576=) c.4134G>A (p.Gly1378=) c.4602G>A (p.Gly1534=) c.4590G>A (p.Gly1530=) c.3987G>A (p.Gly1329=) c.4260G>A (p.Gly1420=) | gnomAD v4 |
| 5 | g.138428067G>C | CA446595440 | KDM3B | c.4734G>C (p.Gly1578=) c.2150G>C (n.2150G>C) n.557G>C c.4444G>C (n.4444G>C) c.1728G>C (p.Gly576=) c.4134G>C (p.Gly1378=) c.4602G>C (p.Gly1534=) c.4590G>C (p.Gly1530=) c.3987G>C (p.Gly1329=) c.4260G>C (p.Gly1420=) | |
| 5 | g.138428067G>T | CA446595441 | KDM3B | c.4734G>T (p.Gly1578=) c.2150G>T (n.2150G>T) n.557G>T c.4444G>T (n.4444G>T) c.1728G>T (p.Gly576=) c.4134G>T (p.Gly1378=) c.4602G>T (p.Gly1534=) c.4590G>T (p.Gly1530=) c.3987G>T (p.Gly1329=) c.4260G>T (p.Gly1420=) | |
| 5 | g.138428068G>A | CA361094476 | KDM3B | c.4735G>A (p.Glu1579Lys) c.2151G>A (n.2151G>A) n.558G>A c.4445G>A (n.4445G>A) c.1729G>A (p.Glu577Lys) c.4135G>A (p.Glu1379Lys) c.4603G>A (p.Glu1535Lys) c.4591G>A (p.Glu1531Lys) c.3988G>A (p.Glu1330Lys) c.4261G>A (p.Glu1421Lys) | |
| 5 | g.138428068G>C | CA361094477 | KDM3B | c.4735G>C (p.Glu1579Gln) c.2151G>C (n.2151G>C) n.558G>C c.4445G>C (n.4445G>C) c.1729G>C (p.Glu577Gln) c.4135G>C (p.Glu1379Gln) c.4603G>C (p.Glu1535Gln) c.4591G>C (p.Glu1531Gln) c.3988G>C (p.Glu1330Gln) c.4261G>C (p.Glu1421Gln) | |
| 5 | g.138428068G>T | CA361094478 | KDM3B | c.4735G>T (p.Glu1579Ter) c.2151G>T (n.2151G>T) n.558G>T c.4445G>T (n.4445G>T) c.1729G>T (p.Glu577Ter) c.4135G>T (p.Glu1379Ter) c.4603G>T (p.Glu1535Ter) c.4591G>T (p.Glu1531Ter) c.3988G>T (p.Glu1330Ter) c.4261G>T (p.Glu1421Ter) | |
| 5 | g.138428069A>C | CA361094482 | KDM3B | c.4736A>C (p.Glu1579Ala) c.2152A>C (n.2152A>C) n.559A>C c.4446A>C (n.4446A>C) c.1730A>C (p.Glu577Ala) c.4136A>C (p.Glu1379Ala) c.4604A>C (p.Glu1535Ala) c.4592A>C (p.Glu1531Ala) c.3989A>C (p.Glu1330Ala) c.4262A>C (p.Glu1421Ala) | |
| 5 | g.138428069A>G | CA361094484 | KDM3B | c.4736A>G (p.Glu1579Gly) c.2152A>G (n.2152A>G) n.559A>G c.4446A>G (n.4446A>G) c.1730A>G (p.Glu577Gly) c.4136A>G (p.Glu1379Gly) c.4604A>G (p.Glu1535Gly) c.4592A>G (p.Glu1531Gly) c.3989A>G (p.Glu1330Gly) c.4262A>G (p.Glu1421Gly) | COSMIC |
| 5 | g.138428069A>T | CA361094487 | KDM3B | c.4736A>T (p.Glu1579Val) c.2152A>T (n.2152A>T) n.559A>T c.4446A>T (n.4446A>T) c.1730A>T (p.Glu577Val) c.4136A>T (p.Glu1379Val) c.4604A>T (p.Glu1535Val) c.4592A>T (p.Glu1531Val) c.3989A>T (p.Glu1330Val) c.4262A>T (p.Glu1421Val) | |
| 5 | g.138428070G>A | CA446595447 | KDM3B | c.4737G>A (p.Glu1579=) c.2153G>A (n.2153G>A) n.560G>A c.4447G>A (n.4447G>A) c.1731G>A (p.Glu577=) c.4137G>A (p.Glu1379=) c.4605G>A (p.Glu1535=) c.4593G>A (p.Glu1531=) c.3990G>A (p.Glu1330=) c.4263G>A (p.Glu1421=) | gnomAD v4 |
| 5 | g.138428070G>C | CA361094491 | KDM3B | c.4737G>C (p.Glu1579Asp) c.2153G>C (n.2153G>C) n.560G>C c.4447G>C (n.4447G>C) c.1731G>C (p.Glu577Asp) c.4137G>C (p.Glu1379Asp) c.4605G>C (p.Glu1535Asp) c.4593G>C (p.Glu1531Asp) c.3990G>C (p.Glu1330Asp) c.4263G>C (p.Glu1421Asp) | |
| 5 | g.138428070G>T | CA361094493 | KDM3B | c.4737G>T (p.Glu1579Asp) c.2153G>T (n.2153G>T) n.560G>T c.4447G>T (n.4447G>T) c.1731G>T (p.Glu577Asp) c.4137G>T (p.Glu1379Asp) c.4605G>T (p.Glu1535Asp) c.4593G>T (p.Glu1531Asp) c.3990G>T (p.Glu1330Asp) c.4263G>T (p.Glu1421Asp) | |
| 5 | g.138428071G>A | CA361094496 | KDM3B | c.4738G>A (p.Gly1580Ser) c.2154G>A (n.2154G>A) n.561G>A c.4448G>A (n.4448G>A) c.1732G>A (p.Gly578Ser) c.4138G>A (p.Gly1380Ser) c.4606G>A (p.Gly1536Ser) c.4594G>A (p.Gly1532Ser) c.3991G>A (p.Gly1331Ser) c.4264G>A (p.Gly1422Ser) | |
| 5 | g.138428071G>C | CA361094499 | KDM3B | c.4738G>C (p.Gly1580Arg) c.2154G>C (n.2154G>C) n.561G>C c.4448G>C (n.4448G>C) c.1732G>C (p.Gly578Arg) c.4138G>C (p.Gly1380Arg) c.4606G>C (p.Gly1536Arg) c.4594G>C (p.Gly1532Arg) c.3991G>C (p.Gly1331Arg) c.4264G>C (p.Gly1422Arg) | |
| 5 | g.138428071G>T | CA361094502 | KDM3B | c.4738G>T (p.Gly1580Cys) c.2154G>T (n.2154G>T) n.561G>T c.4448G>T (n.4448G>T) c.1732G>T (p.Gly578Cys) c.4138G>T (p.Gly1380Cys) c.4606G>T (p.Gly1536Cys) c.4594G>T (p.Gly1532Cys) c.3991G>T (p.Gly1331Cys) c.4264G>T (p.Gly1422Cys) | |
| 5 | g.138428072G>A | CA3429505 | KDM3B | c.4739G>A (p.Gly1580Asp) c.2155G>A (n.2155G>A) n.562G>A c.4449G>A (n.4449G>A) c.1733G>A (p.Gly578Asp) c.4139G>A (p.Gly1380Asp) c.4607G>A (p.Gly1536Asp) c.4595G>A (p.Gly1532Asp) c.3992G>A (p.Gly1331Asp) c.4265G>A (p.Gly1422Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138428072G>C | CA361094507 | KDM3B | c.4739G>C (p.Gly1580Ala) c.2155G>C (n.2155G>C) n.562G>C c.4449G>C (n.4449G>C) c.1733G>C (p.Gly578Ala) c.4139G>C (p.Gly1380Ala) c.4607G>C (p.Gly1536Ala) c.4595G>C (p.Gly1532Ala) c.3992G>C (p.Gly1331Ala) c.4265G>C (p.Gly1422Ala) | |
| 5 | g.138428072G= | CA1585838045 | KDM3B | c.4739G= (p.Gly1580=) c.2155G= (n.2155G=) n.562G= c.4449G= (n.4449G=) c.1733G= (p.Gly578=) c.4139G= (p.Gly1380=) c.4607G= (p.Gly1536=) c.4595G= (p.Gly1532=) c.3992G= (p.Gly1331=) c.4265G= (p.Gly1422=) | |
| 5 | g.138428072G>T | CA361094504 | KDM3B | c.4739G>T (p.Gly1580Val) c.2155G>T (n.2155G>T) n.562G>T c.4449G>T (n.4449G>T) c.1733G>T (p.Gly578Val) c.4139G>T (p.Gly1380Val) c.4607G>T (p.Gly1536Val) c.4595G>T (p.Gly1532Val) c.3992G>T (p.Gly1331Val) c.4265G>T (p.Gly1422Val) | COSMIC |
| 5 | g.138428073T>A | CA446595450 | KDM3B | c.4740T>A (p.Gly1580=) c.2156T>A (n.2156T>A) n.563T>A c.4450T>A (n.4450T>A) c.1734T>A (p.Gly578=) c.4140T>A (p.Gly1380=) c.4608T>A (p.Gly1536=) c.4596T>A (p.Gly1532=) c.3993T>A (p.Gly1331=) c.4266T>A (p.Gly1422=) | |
| 5 | g.138428073T>C | CA446595451 | KDM3B | c.4740T>C (p.Gly1580=) c.2156T>C (n.2156T>C) n.563T>C c.4450T>C (n.4450T>C) c.1734T>C (p.Gly578=) c.4140T>C (p.Gly1380=) c.4608T>C (p.Gly1536=) c.4596T>C (p.Gly1532=) c.3993T>C (p.Gly1331=) c.4266T>C (p.Gly1422=) | |
| 5 | g.138428073T>G | CA446595452 | KDM3B | c.4740T>G (p.Gly1580=) c.2156T>G (n.2156T>G) n.563T>G c.4450T>G (n.4450T>G) c.1734T>G (p.Gly578=) c.4140T>G (p.Gly1380=) c.4608T>G (p.Gly1536=) c.4596T>G (p.Gly1532=) c.3993T>G (p.Gly1331=) c.4266T>G (p.Gly1422=) | |
| 5 | g.138428074G>A | CA361094511 | KDM3B | c.4741G>A (p.Ala1581Thr) c.2157G>A (n.2157G>A) n.564G>A c.4451G>A (n.4451G>A) c.1735G>A (p.Ala579Thr) c.4141G>A (p.Ala1381Thr) c.4609G>A (p.Ala1537Thr) c.4597G>A (p.Ala1533Thr) c.3994G>A (p.Ala1332Thr) c.4267G>A (p.Ala1423Thr) | |
| 5 | g.138428074G>C | CA361094524 | KDM3B | c.4741G>C (p.Ala1581Pro) c.2157G>C (n.2157G>C) n.564G>C c.4451G>C (n.4451G>C) c.1735G>C (p.Ala579Pro) c.4141G>C (p.Ala1381Pro) c.4609G>C (p.Ala1537Pro) c.4597G>C (p.Ala1533Pro) c.3994G>C (p.Ala1332Pro) c.4267G>C (p.Ala1423Pro) | |
| 5 | g.138428074G>T | CA361094522 | KDM3B | c.4741G>T (p.Ala1581Ser) c.2157G>T (n.2157G>T) n.564G>T c.4451G>T (n.4451G>T) c.1735G>T (p.Ala579Ser) c.4141G>T (p.Ala1381Ser) c.4609G>T (p.Ala1537Ser) c.4597G>T (p.Ala1533Ser) c.3994G>T (p.Ala1332Ser) c.4267G>T (p.Ala1423Ser) | |
| 5 | g.138428075C>A | CA361094526 | KDM3B | c.4742C>A (p.Ala1581Asp) c.2158C>A (n.2158C>A) n.565C>A c.4452C>A (n.4452C>A) c.1736C>A (p.Ala579Asp) c.4142C>A (p.Ala1381Asp) c.4610C>A (p.Ala1537Asp) c.4598C>A (p.Ala1533Asp) c.3995C>A (p.Ala1332Asp) c.4268C>A (p.Ala1423Asp) | |
| 5 | g.138428075C>G | CA361094530 | KDM3B | c.4742C>G (p.Ala1581Gly) c.2158C>G (n.2158C>G) n.565C>G c.4452C>G (n.4452C>G) c.1736C>G (p.Ala579Gly) c.4142C>G (p.Ala1381Gly) c.4610C>G (p.Ala1537Gly) c.4598C>G (p.Ala1533Gly) c.3995C>G (p.Ala1332Gly) c.4268C>G (p.Ala1423Gly) | |
| 5 | g.138428075C>T | CA361094528 | KDM3B | c.4742C>T (p.Ala1581Val) c.2158C>T (n.2158C>T) n.565C>T c.4452C>T (n.4452C>T) c.1736C>T (p.Ala579Val) c.4142C>T (p.Ala1381Val) c.4610C>T (p.Ala1537Val) c.4598C>T (p.Ala1533Val) c.3995C>T (p.Ala1332Val) c.4268C>T (p.Ala1423Val) | |
| 5 | g.138428076T>A | CA446595456 | KDM3B | c.4743T>A (p.Ala1581=) c.2159T>A (n.2159T>A) n.566T>A c.4453T>A (n.4453T>A) c.1737T>A (p.Ala579=) c.4143T>A (p.Ala1381=) c.4611T>A (p.Ala1537=) c.4599T>A (p.Ala1533=) c.3996T>A (p.Ala1332=) c.4269T>A (p.Ala1423=) | |
| 5 | g.138428076T>C | CA3429506 | KDM3B | c.4743T>C (p.Ala1581=) c.2159T>C (n.2159T>C) n.566T>C c.4453T>C (n.4453T>C) c.1737T>C (p.Ala579=) c.4143T>C (p.Ala1381=) c.4611T>C (p.Ala1537=) c.4599T>C (p.Ala1533=) c.3996T>C (p.Ala1332=) c.4269T>C (p.Ala1423=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138428076T>G | CA446595455 | KDM3B | c.4743T>G (p.Ala1581=) c.2159T>G (n.2159T>G) n.566T>G c.4453T>G (n.4453T>G) c.1737T>G (p.Ala579=) c.4143T>G (p.Ala1381=) c.4611T>G (p.Ala1537=) c.4599T>G (p.Ala1533=) c.3996T>G (p.Ala1332=) c.4269T>G (p.Ala1423=) | |
| 5 | g.138428076T= | CA1585838046 | KDM3B | c.4743T= (p.Ala1581=) c.2159T= (n.2159T=) n.566T= c.4453T= (n.4453T=) c.1737T= (p.Ala579=) c.4143T= (p.Ala1381=) c.4611T= (p.Ala1537=) c.4599T= (p.Ala1533=) c.3996T= (p.Ala1332=) c.4269T= (p.Ala1423=) | |
| 5 | g.138428077C>A | CA361094542 | KDM3B | c.4744C>A (p.His1582Asn) c.2160C>A (n.2160C>A) n.567C>A c.4454C>A (n.4454C>A) c.1738C>A (p.His580Asn) c.4144C>A (p.His1382Asn) c.4612C>A (p.His1538Asn) c.4600C>A (p.His1534Asn) c.3997C>A (p.His1333Asn) c.4270C>A (p.His1424Asn) | dbSNP gnomAD v4 |
| 5 | g.138428077C= | CA1585838047 | KDM3B | c.4744C= (p.His1582=) c.2160C= (n.2160C=) n.567C= c.4454C= (n.4454C=) c.1738C= (p.His580=) c.4144C= (p.His1382=) c.4612C= (p.His1538=) c.4600C= (p.His1534=) c.3997C= (p.His1333=) c.4270C= (p.His1424=) | |
| 5 | g.138428077C>G | CA361094536 | KDM3B | c.4744C>G (p.His1582Asp) c.2160C>G (n.2160C>G) n.567C>G c.4454C>G (n.4454C>G) c.1738C>G (p.His580Asp) c.4144C>G (p.His1382Asp) c.4612C>G (p.His1538Asp) c.4600C>G (p.His1534Asp) c.3997C>G (p.His1333Asp) c.4270C>G (p.His1424Asp) | |
| 5 | g.138428077C>T | CA361094539 | KDM3B | c.4744C>T (p.His1582Tyr) c.2160C>T (n.2160C>T) n.567C>T c.4454C>T (n.4454C>T) c.1738C>T (p.His580Tyr) c.4144C>T (p.His1382Tyr) c.4612C>T (p.His1538Tyr) c.4600C>T (p.His1534Tyr) c.3997C>T (p.His1333Tyr) c.4270C>T (p.His1424Tyr) | gnomAD v4 |
| 5 | g.138428078A>C | CA361094545 | KDM3B | c.4745A>C (p.His1582Pro) c.2161A>C (n.2161A>C) n.568A>C c.4455A>C (n.4455A>C) c.1739A>C (p.His580Pro) c.4145A>C (p.His1382Pro) c.4613A>C (p.His1538Pro) c.4601A>C (p.His1534Pro) c.3998A>C (p.His1333Pro) c.4271A>C (p.His1424Pro) | |
| 5 | g.138428078A>G | CA361094548 | KDM3B | c.4745A>G (p.His1582Arg) c.2161A>G (n.2161A>G) n.568A>G c.4455A>G (n.4455A>G) c.1739A>G (p.His580Arg) c.4145A>G (p.His1382Arg) c.4613A>G (p.His1538Arg) c.4601A>G (p.His1534Arg) c.3998A>G (p.His1333Arg) c.4271A>G (p.His1424Arg) | |
| 5 | g.138428078A>T | CA361094551 | KDM3B | c.4745A>T (p.His1582Leu) c.2161A>T (n.2161A>T) n.568A>T c.4455A>T (n.4455A>T) c.1739A>T (p.His580Leu) c.4145A>T (p.His1382Leu) c.4613A>T (p.His1538Leu) c.4601A>T (p.His1534Leu) c.3998A>T (p.His1333Leu) c.4271A>T (p.His1424Leu) | |
| 5 | g.138428079T>A | CA361094554 | KDM3B | c.4746T>A (p.His1582Gln) c.2162T>A (n.2162T>A) n.569T>A c.4456T>A (n.4456T>A) c.1740T>A (p.His580Gln) c.4146T>A (p.His1382Gln) c.4614T>A (p.His1538Gln) c.4602T>A (p.His1534Gln) c.3999T>A (p.His1333Gln) c.4272T>A (p.His1424Gln) | |
| 5 | g.138428079T>C | CA446595457 | KDM3B | c.4746T>C (p.His1582=) c.2162T>C (n.2162T>C) n.569T>C c.4456T>C (n.4456T>C) c.1740T>C (p.His580=) c.4146T>C (p.His1382=) c.4614T>C (p.His1538=) c.4602T>C (p.His1534=) c.3999T>C (p.His1333=) c.4272T>C (p.His1424=) | |
| 5 | g.138428079T>G | CA361094557 | KDM3B | c.4746T>G (p.His1582Gln) c.2162T>G (n.2162T>G) n.569T>G c.4456T>G (n.4456T>G) c.1740T>G (p.His580Gln) c.4146T>G (p.His1382Gln) c.4614T>G (p.His1538Gln) c.4602T>G (p.His1534Gln) c.3999T>G (p.His1333Gln) c.4272T>G (p.His1424Gln) | |
| 5 | g.138428080G>A | CA361094561 | KDM3B | c.4747G>A (p.Asp1583Asn) c.2163G>A (n.2163G>A) n.570G>A c.4457G>A (n.4457G>A) c.1741G>A (p.Asp581Asn) c.4147G>A (p.Asp1383Asn) c.4615G>A (p.Asp1539Asn) c.4603G>A (p.Asp1535Asn) c.4000G>A (p.Asp1334Asn) c.4273G>A (p.Asp1425Asn) | |
| 5 | g.138428080G>C | CA361094562 | KDM3B | c.4747G>C (p.Asp1583His) c.2163G>C (n.2163G>C) n.570G>C c.4457G>C (n.4457G>C) c.1741G>C (p.Asp581His) c.4147G>C (p.Asp1383His) c.4615G>C (p.Asp1539His) c.4603G>C (p.Asp1535His) c.4000G>C (p.Asp1334His) c.4273G>C (p.Asp1425His) | |
| 5 | g.138428080G>T | CA361094565 | KDM3B | c.4747G>T (p.Asp1583Tyr) c.2163G>T (n.2163G>T) n.570G>T c.4457G>T (n.4457G>T) c.1741G>T (p.Asp581Tyr) c.4147G>T (p.Asp1383Tyr) c.4615G>T (p.Asp1539Tyr) c.4603G>T (p.Asp1535Tyr) c.4000G>T (p.Asp1334Tyr) c.4273G>T (p.Asp1425Tyr) | |
| 5 | g.138428081A= | CA1585838048 | KDM3B | c.4748A= (p.Asp1583=) c.2164A= (n.2164A=) n.571A= c.4458A= (n.4458A=) c.1742A= (p.Asp581=) c.4148A= (p.Asp1383=) c.4616A= (p.Asp1539=) c.4604A= (p.Asp1535=) c.4001A= (p.Asp1334=) c.4274A= (p.Asp1425=) | |
| 5 | g.138428081A>C | CA361094568 | KDM3B | c.4748A>C (p.Asp1583Ala) c.2164A>C (n.2164A>C) n.571A>C c.4458A>C (n.4458A>C) c.1742A>C (p.Asp581Ala) c.4148A>C (p.Asp1383Ala) c.4616A>C (p.Asp1539Ala) c.4604A>C (p.Asp1535Ala) c.4001A>C (p.Asp1334Ala) c.4274A>C (p.Asp1425Ala) | |
| 5 | g.138428081A>G | CA361094571 | KDM3B | c.4748A>G (p.Asp1583Gly) c.2164A>G (n.2164A>G) n.571A>G c.4458A>G (n.4458A>G) c.1742A>G (p.Asp581Gly) c.4148A>G (p.Asp1383Gly) c.4616A>G (p.Asp1539Gly) c.4604A>G (p.Asp1535Gly) c.4001A>G (p.Asp1334Gly) c.4274A>G (p.Asp1425Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138428081A>T | CA361094573 | KDM3B | c.4748A>T (p.Asp1583Val) c.2164A>T (n.2164A>T) n.571A>T c.4458A>T (n.4458A>T) c.1742A>T (p.Asp581Val) c.4148A>T (p.Asp1383Val) c.4616A>T (p.Asp1539Val) c.4604A>T (p.Asp1535Val) c.4001A>T (p.Asp1334Val) c.4274A>T (p.Asp1425Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138428082T>A | CA361094575 | KDM3B | c.4749T>A (p.Asp1583Glu) c.2165T>A (n.2165T>A) n.572T>A c.4459T>A (n.4459T>A) c.1743T>A (p.Asp581Glu) c.4149T>A (p.Asp1383Glu) c.4617T>A (p.Asp1539Glu) c.4605T>A (p.Asp1535Glu) c.4002T>A (p.Asp1334Glu) c.4275T>A (p.Asp1425Glu) | |
| 5 | g.138428082T>C | CA446595464 | KDM3B | c.4749T>C (p.Asp1583=) c.2165T>C (n.2165T>C) n.572T>C c.4459T>C (n.4459T>C) c.1743T>C (p.Asp581=) c.4149T>C (p.Asp1383=) c.4617T>C (p.Asp1539=) c.4605T>C (p.Asp1535=) c.4002T>C (p.Asp1334=) c.4275T>C (p.Asp1425=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.138428082T>G | CA361094577 | KDM3B | c.4749T>G (p.Asp1583Glu) c.2165T>G (n.2165T>G) n.572T>G c.4459T>G (n.4459T>G) c.1743T>G (p.Asp581Glu) c.4149T>G (p.Asp1383Glu) c.4617T>G (p.Asp1539Glu) c.4605T>G (p.Asp1535Glu) c.4002T>G (p.Asp1334Glu) c.4275T>G (p.Asp1425Glu) | |
| 5 | g.138428082T= | CA1585838049 | KDM3B | c.4749T= (p.Asp1583=) c.2165T= (n.2165T=) n.572T= c.4459T= (n.4459T=) c.1743T= (p.Asp581=) c.4149T= (p.Asp1383=) c.4617T= (p.Asp1539=) c.4605T= (p.Asp1535=) c.4002T= (p.Asp1334=) c.4275T= (p.Asp1425=) | |
| 5 | g.138428083G>A | CA361094580 | KDM3B | c.4750G>A (p.Glu1584Lys) c.2166G>A (n.2166G>A) n.573G>A c.4460G>A (n.4460G>A) c.1744G>A (p.Glu582Lys) c.4150G>A (p.Glu1384Lys) c.4618G>A (p.Glu1540Lys) c.4606G>A (p.Glu1536Lys) c.4003G>A (p.Glu1335Lys) c.4276G>A (p.Glu1426Lys) | |
| 5 | g.138428083G>C | CA361094584 | KDM3B | c.4750G>C (p.Glu1584Gln) c.2166G>C (n.2166G>C) n.573G>C c.4460G>C (n.4460G>C) c.1744G>C (p.Glu582Gln) c.4150G>C (p.Glu1384Gln) c.4618G>C (p.Glu1540Gln) c.4606G>C (p.Glu1536Gln) c.4003G>C (p.Glu1335Gln) c.4276G>C (p.Glu1426Gln) | |
| 5 | g.138428083G>T | CA361094586 | KDM3B | c.4750G>T (p.Glu1584Ter) c.2166G>T (n.2166G>T) n.573G>T c.4460G>T (n.4460G>T) c.1744G>T (p.Glu582Ter) c.4150G>T (p.Glu1384Ter) c.4618G>T (p.Glu1540Ter) c.4606G>T (p.Glu1536Ter) c.4003G>T (p.Glu1335Ter) c.4276G>T (p.Glu1426Ter) | |
| 5 | g.138428084_138428086del | CA2768587534 | KDM3B | c.4751_4753del (p.Glu1585del) c.2167_2169del (n.2167_2169del) n.574_576del c.4461_4463del (n.4461_4463del) c.1745_1747del (p.Glu583del) c.4151_4153del (p.Glu1385del) c.4619_4621del (p.Glu1541del) c.4607_4609del (p.Glu1537del) c.4004_4006del (p.Glu1336del) c.4277_4279del (p.Glu1427del) | |
| 5 | g.138428084A>C | CA361094589 | KDM3B | c.4751A>C (p.Glu1584Ala) c.2167A>C (n.2167A>C) n.574A>C c.4461A>C (n.4461A>C) c.1745A>C (p.Glu582Ala) c.4151A>C (p.Glu1384Ala) c.4619A>C (p.Glu1540Ala) c.4607A>C (p.Glu1536Ala) c.4004A>C (p.Glu1335Ala) c.4277A>C (p.Glu1426Ala) | |
| 5 | g.138428084A>G | CA361094592 | KDM3B | c.4751A>G (p.Glu1584Gly) c.2167A>G (n.2167A>G) n.574A>G c.4461A>G (n.4461A>G) c.1745A>G (p.Glu582Gly) c.4151A>G (p.Glu1384Gly) c.4619A>G (p.Glu1540Gly) c.4607A>G (p.Glu1536Gly) c.4004A>G (p.Glu1335Gly) c.4277A>G (p.Glu1426Gly) | |
| 5 | g.138428084A>T | CA361094594 | KDM3B | c.4751A>T (p.Glu1584Val) c.2167A>T (n.2167A>T) n.574A>T c.4461A>T (n.4461A>T) c.1745A>T (p.Glu582Val) c.4151A>T (p.Glu1384Val) c.4619A>T (p.Glu1540Val) c.4607A>T (p.Glu1536Val) c.4004A>T (p.Glu1335Val) c.4277A>T (p.Glu1426Val) | |
| 5 | g.138428085A>C | CA361094598 | KDM3B | c.4752A>C (p.Glu1584Asp) c.2168A>C (n.2168A>C) n.575A>C c.4462A>C (n.4462A>C) c.1746A>C (p.Glu582Asp) c.4152A>C (p.Glu1384Asp) c.4620A>C (p.Glu1540Asp) c.4608A>C (p.Glu1536Asp) c.4005A>C (p.Glu1335Asp) c.4278A>C (p.Glu1426Asp) | |
| 5 | g.138428085A>G | CA446595468 | KDM3B | c.4752A>G (p.Glu1584=) c.2168A>G (n.2168A>G) n.575A>G c.4462A>G (n.4462A>G) c.1746A>G (p.Glu582=) c.4152A>G (p.Glu1384=) c.4620A>G (p.Glu1540=) c.4608A>G (p.Glu1536=) c.4005A>G (p.Glu1335=) c.4278A>G (p.Glu1426=) | |
| 5 | g.138428085A>T | CA361094600 | KDM3B | c.4752A>T (p.Glu1584Asp) c.2168A>T (n.2168A>T) n.575A>T c.4462A>T (n.4462A>T) c.1746A>T (p.Glu582Asp) c.4152A>T (p.Glu1384Asp) c.4620A>T (p.Glu1540Asp) c.4608A>T (p.Glu1536Asp) c.4005A>T (p.Glu1335Asp) c.4278A>T (p.Glu1426Asp) | |
| 5 | g.138428086G>A | CA361094603 | KDM3B | c.4753G>A (p.Glu1585Lys) c.2169G>A (n.2169G>A) n.576G>A c.4463G>A (n.4463G>A) c.1747G>A (p.Glu583Lys) c.4153G>A (p.Glu1385Lys) c.4621G>A (p.Glu1541Lys) c.4609G>A (p.Glu1537Lys) c.4006G>A (p.Glu1336Lys) c.4279G>A (p.Glu1427Lys) | |
| 5 | g.138428086G>C | CA361094605 | KDM3B | c.4753G>C (p.Glu1585Gln) c.2169G>C (n.2169G>C) n.576G>C c.4463G>C (n.4463G>C) c.1747G>C (p.Glu583Gln) c.4153G>C (p.Glu1385Gln) c.4621G>C (p.Glu1541Gln) c.4609G>C (p.Glu1537Gln) c.4006G>C (p.Glu1336Gln) c.4279G>C (p.Glu1427Gln) | |
| 5 | g.138428086G>T | CA361094608 | KDM3B | c.4753G>T (p.Glu1585Ter) c.2169G>T (n.2169G>T) n.576G>T c.4463G>T (n.4463G>T) c.1747G>T (p.Glu583Ter) c.4153G>T (p.Glu1385Ter) c.4621G>T (p.Glu1541Ter) c.4609G>T (p.Glu1537Ter) c.4006G>T (p.Glu1336Ter) c.4279G>T (p.Glu1427Ter) | |
| 5 | g.138428087G>A | CA361094618 | KDM3B | c.4753+1G>A (n.4753+1G>A) c.2169+1G>A (n.2169+1G>A) c.4463+1G>A (n.4463+1G>A) c.1747+1G>A (n.1747+1G>A) c.4153+1G>A (n.4153+1G>A) c.4621+1G>A (n.4621+1G>A) c.4609+1G>A (n.4609+1G>A) c.4006+1G>A (n.4006+1G>A) c.4279+1G>A (n.4279+1G>A) | |
| 5 | g.138428087G>C | CA361094615 | KDM3B | c.4753+1G>C (n.4753+1G>C) c.2169+1G>C (n.2169+1G>C) c.4463+1G>C (n.4463+1G>C) c.1747+1G>C (n.1747+1G>C) c.4153+1G>C (n.4153+1G>C) c.4621+1G>C (n.4621+1G>C) c.4609+1G>C (n.4609+1G>C) c.4006+1G>C (n.4006+1G>C) c.4279+1G>C (n.4279+1G>C) | |
| 5 | g.138428087G>T | CA361094612 | KDM3B | c.4753+1G>T (n.4753+1G>T) c.2169+1G>T (n.2169+1G>T) c.4463+1G>T (n.4463+1G>T) c.1747+1G>T (n.1747+1G>T) c.4153+1G>T (n.4153+1G>T) c.4621+1G>T (n.4621+1G>T) c.4609+1G>T (n.4609+1G>T) c.4006+1G>T (n.4006+1G>T) c.4279+1G>T (n.4279+1G>T) | |
| 5 | g.138428088T>A | CA361094620 | KDM3B | c.4753+2T>A (n.4753+2T>A) c.2169+2T>A (n.2169+2T>A) c.4463+2T>A (n.4463+2T>A) c.1747+2T>A (n.1747+2T>A) c.4153+2T>A (n.4153+2T>A) c.4621+2T>A (n.4621+2T>A) c.4609+2T>A (n.4609+2T>A) c.4006+2T>A (n.4006+2T>A) c.4279+2T>A (n.4279+2T>A) | |
| 5 | g.138428088T>C | CA361094624 | KDM3B | c.4753+2T>C (n.4753+2T>C) c.2169+2T>C (n.2169+2T>C) c.4463+2T>C (n.4463+2T>C) c.1747+2T>C (n.1747+2T>C) c.4153+2T>C (n.4153+2T>C) c.4621+2T>C (n.4621+2T>C) c.4609+2T>C (n.4609+2T>C) c.4006+2T>C (n.4006+2T>C) c.4279+2T>C (n.4279+2T>C) | |
| 5 | g.138428088T>G | CA361094625 | KDM3B | c.4753+2T>G (n.4753+2T>G) c.2169+2T>G (n.2169+2T>G) c.4463+2T>G (n.4463+2T>G) c.1747+2T>G (n.1747+2T>G) c.4153+2T>G (n.4153+2T>G) c.4621+2T>G (n.4621+2T>G) c.4609+2T>G (n.4609+2T>G) c.4006+2T>G (n.4006+2T>G) c.4279+2T>G (n.4279+2T>G) | |
| 5 | g.138428090T>C | CA2675474313 | KDM3B | c.4753+4T>C (n.4753+4T>C) c.2169+4T>C (n.2169+4T>C) c.4463+4T>C (n.4463+4T>C) c.1747+4T>C (n.1747+4T>C) c.4153+4T>C (n.4153+4T>C) c.4621+4T>C (n.4621+4T>C) c.4609+4T>C (n.4609+4T>C) c.4006+4T>C (n.4006+4T>C) c.4279+4T>C (n.4279+4T>C) | gnomAD v4 |
| 5 | g.138428101A= | CA1585838050 | KDM3B | c.4753+15A= (n.4753+15A=) c.2169+15A= (n.2169+15A=) c.4463+15A= (n.4463+15A=) c.1747+15A= (n.1747+15A=) c.4153+15A= (n.4153+15A=) c.4621+15A= (n.4621+15A=) c.4609+15A= (n.4609+15A=) c.4006+15A= (n.4006+15A=) c.4279+15A= (n.4279+15A=) | |
| 5 | g.138428101A>G | CA3429507 | KDM3B | c.4753+15A>G (n.4753+15A>G) c.2169+15A>G (n.2169+15A>G) c.4463+15A>G (n.4463+15A>G) c.1747+15A>G (n.1747+15A>G) c.4153+15A>G (n.4153+15A>G) c.4621+15A>G (n.4621+15A>G) c.4609+15A>G (n.4609+15A>G) c.4006+15A>G (n.4006+15A>G) c.4279+15A>G (n.4279+15A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.138428102T>C | CA2578419197 | KDM3B | c.4753+16T>C (n.4753+16T>C) c.2169+16T>C (n.2169+16T>C) c.4463+16T>C (n.4463+16T>C) c.1747+16T>C (n.1747+16T>C) c.4153+16T>C (n.4153+16T>C) c.4621+16T>C (n.4621+16T>C) c.4609+16T>C (n.4609+16T>C) c.4006+16T>C (n.4006+16T>C) c.4279+16T>C (n.4279+16T>C) | |
| 5 | g.138428104C>T | CA2675474317 | KDM3B | c.4753+18C>T (n.4753+18C>T) c.2169+18C>T (n.2169+18C>T) c.4463+18C>T (n.4463+18C>T) c.1747+18C>T (n.1747+18C>T) c.4153+18C>T (n.4153+18C>T) c.4621+18C>T (n.4621+18C>T) c.4609+18C>T (n.4609+18C>T) c.4006+18C>T (n.4006+18C>T) c.4279+18C>T (n.4279+18C>T) | gnomAD v4 |
| 5 | g.138428108G>C | CA2675474318 | KDM3B | c.4753+22G>C (n.4753+22G>C) c.2169+22G>C (n.2169+22G>C) c.4463+22G>C (n.4463+22G>C) c.1747+22G>C (n.1747+22G>C) c.4153+22G>C (n.4153+22G>C) c.4621+22G>C (n.4621+22G>C) c.4609+22G>C (n.4609+22G>C) c.4006+22G>C (n.4006+22G>C) c.4279+22G>C (n.4279+22G>C) | gnomAD v4 |
| 5 | g.138428108_138428109insGC | CA2768587535 | KDM3B | c.4753+22_4753+23insGC (n.4753+22_4753+23insGC) c.2169+22_2169+23insGC (n.2169+22_2169+23insGC) c.4463+22_4463+23insGC (n.4463+22_4463+23insGC) c.1747+22_1747+23insGC (n.1747+22_1747+23insGC) c.4153+22_4153+23insGC (n.4153+22_4153+23insGC) c.4621+22_4621+23insGC (n.4621+22_4621+23insGC) c.4609+22_4609+23insGC (n.4609+22_4609+23insGC) c.4006+22_4006+23insGC (n.4006+22_4006+23insGC) c.4279+22_4279+23insGC (n.4279+22_4279+23insGC) | |
| 5 | g.138428109C>A | CA2581500183 | KDM3B | c.4753+23C>A (n.4753+23C>A) c.2169+23C>A (n.2169+23C>A) c.4463+23C>A (n.4463+23C>A) c.1747+23C>A (n.1747+23C>A) c.4153+23C>A (n.4153+23C>A) c.4621+23C>A (n.4621+23C>A) c.4609+23C>A (n.4609+23C>A) c.4006+23C>A (n.4006+23C>A) c.4279+23C>A (n.4279+23C>A) | |
| 5 | g.138428109C= | CA1585838051 | KDM3B | c.4753+23C= (n.4753+23C=) c.2169+23C= (n.2169+23C=) c.4463+23C= (n.4463+23C=) c.1747+23C= (n.1747+23C=) c.4153+23C= (n.4153+23C=) c.4621+23C= (n.4621+23C=) c.4609+23C= (n.4609+23C=) c.4006+23C= (n.4006+23C=) c.4279+23C= (n.4279+23C=) | |
| 5 | g.138428109C>G | CA2581500184 | KDM3B | c.4753+23C>G (n.4753+23C>G) c.2169+23C>G (n.2169+23C>G) c.4463+23C>G (n.4463+23C>G) c.1747+23C>G (n.1747+23C>G) c.4153+23C>G (n.4153+23C>G) c.4621+23C>G (n.4621+23C>G) c.4609+23C>G (n.4609+23C>G) c.4006+23C>G (n.4006+23C>G) c.4279+23C>G (n.4279+23C>G) | |
| 5 | g.138428109C>T | CA3429508 | KDM3B | c.4753+23C>T (n.4753+23C>T) c.2169+23C>T (n.2169+23C>T) c.4463+23C>T (n.4463+23C>T) c.1747+23C>T (n.1747+23C>T) c.4153+23C>T (n.4153+23C>T) c.4621+23C>T (n.4621+23C>T) c.4609+23C>T (n.4609+23C>T) c.4006+23C>T (n.4006+23C>T) c.4279+23C>T (n.4279+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138428110T>C | CA1585838053 | KDM3B | c.4753+24T>C (n.4753+24T>C) c.2169+24T>C (n.2169+24T>C) c.4463+24T>C (n.4463+24T>C) c.1747+24T>C (n.1747+24T>C) c.4153+24T>C (n.4153+24T>C) c.4621+24T>C (n.4621+24T>C) c.4609+24T>C (n.4609+24T>C) c.4006+24T>C (n.4006+24T>C) c.4279+24T>C (n.4279+24T>C) | dbSNP gnomAD v4 |
| 5 | g.138428110T= | CA1585838052 | KDM3B | c.4753+24T= (n.4753+24T=) c.2169+24T= (n.2169+24T=) c.4463+24T= (n.4463+24T=) c.1747+24T= (n.1747+24T=) c.4153+24T= (n.4153+24T=) c.4621+24T= (n.4621+24T=) c.4609+24T= (n.4609+24T=) c.4006+24T= (n.4006+24T=) c.4279+24T= (n.4279+24T=) | |
| 5 | g.138428111T>C | CA2578419198 | KDM3B | c.4753+25T>C (n.4753+25T>C) c.2169+25T>C (n.2169+25T>C) c.4463+25T>C (n.4463+25T>C) c.1747+25T>C (n.1747+25T>C) c.4153+25T>C (n.4153+25T>C) c.4621+25T>C (n.4621+25T>C) c.4609+25T>C (n.4609+25T>C) c.4006+25T>C (n.4006+25T>C) c.4279+25T>C (n.4279+25T>C) | gnomAD v4 |
| 5 | g.138428112T>A | CA2768587536 | KDM3B | c.4753+26T>A (n.4753+26T>A) c.2169+26T>A (n.2169+26T>A) c.4463+26T>A (n.4463+26T>A) c.1747+26T>A (n.1747+26T>A) c.4153+26T>A (n.4153+26T>A) c.4621+26T>A (n.4621+26T>A) c.4609+26T>A (n.4609+26T>A) c.4006+26T>A (n.4006+26T>A) c.4279+26T>A (n.4279+26T>A) | |
| 5 | g.138428112T>G | CA2675474323 | KDM3B | c.4753+26T>G (n.4753+26T>G) c.2169+26T>G (n.2169+26T>G) c.4463+26T>G (n.4463+26T>G) c.1747+26T>G (n.1747+26T>G) c.4153+26T>G (n.4153+26T>G) c.4621+26T>G (n.4621+26T>G) c.4609+26T>G (n.4609+26T>G) c.4006+26T>G (n.4006+26T>G) c.4279+26T>G (n.4279+26T>G) | gnomAD v4 |
| 5 | g.138428113A>G | CA650311868 | KDM3B | c.4753+27A>G (n.4753+27A>G) c.2169+27A>G (n.2169+27A>G) c.4463+27A>G (n.4463+27A>G) c.1747+27A>G (n.1747+27A>G) c.4153+27A>G (n.4153+27A>G) c.4621+27A>G (n.4621+27A>G) c.4609+27A>G (n.4609+27A>G) c.4006+27A>G (n.4006+27A>G) c.4279+27A>G (n.4279+27A>G) | COSMIC |
| 5 | g.138428115G>A | CA563282224 | KDM3B | c.4753+29G>A (n.4753+29G>A) c.2169+29G>A (n.2169+29G>A) c.4463+29G>A (n.4463+29G>A) c.1747+29G>A (n.1747+29G>A) c.4153+29G>A (n.4153+29G>A) c.4621+29G>A (n.4621+29G>A) c.4609+29G>A (n.4609+29G>A) c.4006+29G>A (n.4006+29G>A) c.4279+29G>A (n.4279+29G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.138428115G>C | CA2675474326 | KDM3B | c.4753+29G>C (n.4753+29G>C) c.2169+29G>C (n.2169+29G>C) c.4463+29G>C (n.4463+29G>C) c.1747+29G>C (n.1747+29G>C) c.4153+29G>C (n.4153+29G>C) c.4621+29G>C (n.4621+29G>C) c.4609+29G>C (n.4609+29G>C) c.4006+29G>C (n.4006+29G>C) c.4279+29G>C (n.4279+29G>C) | gnomAD v4 |
| 5 | g.138428115G= | CA1585838054 | KDM3B | c.4753+29G= (n.4753+29G=) c.2169+29G= (n.2169+29G=) c.4463+29G= (n.4463+29G=) c.1747+29G= (n.1747+29G=) c.4153+29G= (n.4153+29G=) c.4621+29G= (n.4621+29G=) c.4609+29G= (n.4609+29G=) c.4006+29G= (n.4006+29G=) c.4279+29G= (n.4279+29G=) | |
| 5 | g.138428116A= | CA1585838055 | KDM3B | c.4753+30A= (n.4753+30A=) c.2169+30A= (n.2169+30A=) c.4463+30A= (n.4463+30A=) c.1747+30A= (n.1747+30A=) c.4153+30A= (n.4153+30A=) c.4621+30A= (n.4621+30A=) c.4609+30A= (n.4609+30A=) c.4006+30A= (n.4006+30A=) c.4279+30A= (n.4279+30A=) | |
| 5 | g.138428116A>G | CA1082049774 | KDM3B | c.4753+30A>G (n.4753+30A>G) c.2169+30A>G (n.2169+30A>G) c.4463+30A>G (n.4463+30A>G) c.1747+30A>G (n.1747+30A>G) c.4153+30A>G (n.4153+30A>G) c.4621+30A>G (n.4621+30A>G) c.4609+30A>G (n.4609+30A>G) c.4006+30A>G (n.4006+30A>G) c.4279+30A>G (n.4279+30A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.138428116A>T | CA2675474328 | KDM3B | c.4753+30A>T (n.4753+30A>T) c.2169+30A>T (n.2169+30A>T) c.4463+30A>T (n.4463+30A>T) c.1747+30A>T (n.1747+30A>T) c.4153+30A>T (n.4153+30A>T) c.4621+30A>T (n.4621+30A>T) c.4609+30A>T (n.4609+30A>T) c.4006+30A>T (n.4006+30A>T) c.4279+30A>T (n.4279+30A>T) | gnomAD v4 |
| 5 | g.138428118G>C | CA2768587537 | KDM3B | c.4753+32G>C (n.4753+32G>C) c.2169+32G>C (n.2169+32G>C) c.4463+32G>C (n.4463+32G>C) c.1747+32G>C (n.1747+32G>C) c.4153+32G>C (n.4153+32G>C) c.4621+32G>C (n.4621+32G>C) c.4609+32G>C (n.4609+32G>C) c.4006+32G>C (n.4006+32G>C) c.4279+32G>C (n.4279+32G>C) | |
| 5 | g.138428118G>T | CA2675474330 | KDM3B | c.4753+32G>T (n.4753+32G>T) c.2169+32G>T (n.2169+32G>T) c.4463+32G>T (n.4463+32G>T) c.1747+32G>T (n.1747+32G>T) c.4153+32G>T (n.4153+32G>T) c.4621+32G>T (n.4621+32G>T) c.4609+32G>T (n.4609+32G>T) c.4006+32G>T (n.4006+32G>T) c.4279+32G>T (n.4279+32G>T) | gnomAD v4 |
| 5 | g.138428119G>A | CA2675474332 | KDM3B | c.4753+33G>A (n.4753+33G>A) c.2169+33G>A (n.2169+33G>A) c.4463+33G>A (n.4463+33G>A) c.1747+33G>A (n.1747+33G>A) c.4153+33G>A (n.4153+33G>A) c.4621+33G>A (n.4621+33G>A) c.4609+33G>A (n.4609+33G>A) c.4006+33G>A (n.4006+33G>A) c.4279+33G>A (n.4279+33G>A) | gnomAD v4 |
| 5 | g.138428119G>T | CA2675474333 | KDM3B | c.4753+33G>T (n.4753+33G>T) c.2169+33G>T (n.2169+33G>T) c.4463+33G>T (n.4463+33G>T) c.1747+33G>T (n.1747+33G>T) c.4153+33G>T (n.4153+33G>T) c.4621+33G>T (n.4621+33G>T) c.4609+33G>T (n.4609+33G>T) c.4006+33G>T (n.4006+33G>T) c.4279+33G>T (n.4279+33G>T) | gnomAD v4 |
| 5 | g.138428120_138428121del | CA2578419199 | KDM3B | c.4753+34_4753+35del (n.4753+34_4753+35del) c.2169+34_2169+35del (n.2169+34_2169+35del) c.4463+34_4463+35del (n.4463+34_4463+35del) c.1747+34_1747+35del (n.1747+34_1747+35del) c.4153+34_4153+35del (n.4153+34_4153+35del) c.4621+34_4621+35del (n.4621+34_4621+35del) c.4609+34_4609+35del (n.4609+34_4609+35del) c.4006+34_4006+35del (n.4006+34_4006+35del) c.4279+34_4279+35del (n.4279+34_4279+35del) | |
| 5 | g.138428121G>A | CA1585838057 | KDM3B | c.4753+35G>A (n.4753+35G>A) c.2169+35G>A (n.2169+35G>A) c.4463+35G>A (n.4463+35G>A) c.1747+35G>A (n.1747+35G>A) c.4153+35G>A (n.4153+35G>A) c.4621+35G>A (n.4621+35G>A) c.4609+35G>A (n.4609+35G>A) c.4006+35G>A (n.4006+35G>A) c.4279+35G>A (n.4279+35G>A) | dbSNP gnomAD v4 |
| 5 | g.138428121G= | CA1585838056 | KDM3B | c.4753+35G= (n.4753+35G=) c.2169+35G= (n.2169+35G=) c.4463+35G= (n.4463+35G=) c.1747+35G= (n.1747+35G=) c.4153+35G= (n.4153+35G=) c.4621+35G= (n.4621+35G=) c.4609+35G= (n.4609+35G=) c.4006+35G= (n.4006+35G=) c.4279+35G= (n.4279+35G=) | |
| 5 | g.138428122A>T | CA2675474334 | KDM3B | c.4753+36A>T (n.4753+36A>T) c.2169+36A>T (n.2169+36A>T) c.4463+36A>T (n.4463+36A>T) c.1747+36A>T (n.1747+36A>T) c.4153+36A>T (n.4153+36A>T) c.4621+36A>T (n.4621+36A>T) c.4609+36A>T (n.4609+36A>T) c.4006+36A>T (n.4006+36A>T) c.4279+36A>T (n.4279+36A>T) | gnomAD v4 |