| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41933340G>A | CA371064398 | KAT6A | c.4880C>T (p.Ala1627Val) c.4886C>T (p.Ala1629Val) c.3561C>T c.5012C>T (p.Ala1671Val) c.4991C>T (p.Ala1664Val) c.4898C>T (p.Ala1633Val) c.3452C>T (p.Ala1151Val) | gnomAD v4 |
| 8 | g.41933340G>C | CA371064400 | KAT6A | c.4880C>G (p.Ala1627Gly) c.4886C>G (p.Ala1629Gly) c.3561C>G c.5012C>G (p.Ala1671Gly) c.4991C>G (p.Ala1664Gly) c.4898C>G (p.Ala1633Gly) c.3452C>G (p.Ala1151Gly) | ClinVar gnomAD v4 |
| 8 | g.41933340G>T | CA371064402 | KAT6A | c.4880C>A (p.Ala1627Asp) c.4886C>A (p.Ala1629Asp) c.3561C>A c.5012C>A (p.Ala1671Asp) c.4991C>A (p.Ala1664Asp) c.4898C>A (p.Ala1633Asp) c.3452C>A (p.Ala1151Asp) | |
| 8 | g.41933341C>A | CA371064405 | KAT6A | c.4879G>T (p.Ala1627Ser) c.4885G>T (p.Ala1629Ser) c.3560G>T c.5011G>T (p.Ala1671Ser) c.4990G>T (p.Ala1664Ser) c.4897G>T (p.Ala1633Ser) c.3451G>T (p.Ala1151Ser) | gnomAD v4 |
| 8 | g.41933341C= | CA1779195890 | KAT6A | c.4879G= (p.Ala1627=) c.4885G= (p.Ala1629=) c.3560G= c.5011G= (p.Ala1671=) c.4990G= (p.Ala1664=) c.4897G= (p.Ala1633=) c.3451G= (p.Ala1151=) | |
| 8 | g.41933341C>G | CA371064407 | KAT6A | c.4879G>C (p.Ala1627Pro) c.4885G>C (p.Ala1629Pro) c.3560G>C c.5011G>C (p.Ala1671Pro) c.4990G>C (p.Ala1664Pro) c.4897G>C (p.Ala1633Pro) c.3451G>C (p.Ala1151Pro) | |
| 8 | g.41933341C>T | CA371064409 | KAT6A | c.4879G>A (p.Ala1627Thr) c.4885G>A (p.Ala1629Thr) c.3560G>A c.5011G>A (p.Ala1671Thr) c.4990G>A (p.Ala1664Thr) c.4897G>A (p.Ala1633Thr) c.3451G>A (p.Ala1151Thr) | dbSNP gnomAD v4 |
| 8 | g.41933342A>C | CA460783524 | KAT6A | c.4878T>G (p.Pro1626=) c.4884T>G (p.Pro1628=) c.3559T>G c.5010T>G (p.Pro1670=) c.4989T>G (p.Pro1663=) c.4896T>G (p.Pro1632=) c.3450T>G (p.Pro1150=) | |
| 8 | g.41933342A>G | CA460783525 | KAT6A | c.4878T>C (p.Pro1626=) c.4884T>C (p.Pro1628=) c.3559T>C c.5010T>C (p.Pro1670=) c.4989T>C (p.Pro1663=) c.4896T>C (p.Pro1632=) c.3450T>C (p.Pro1150=) | |
| 8 | g.41933342A>T | CA460783527 | KAT6A | c.4878T>A (p.Pro1626=) c.4884T>A (p.Pro1628=) c.3559T>A c.5010T>A (p.Pro1670=) c.4989T>A (p.Pro1663=) c.4896T>A (p.Pro1632=) c.3450T>A (p.Pro1150=) | |
| 8 | g.41933343G>A | CA371064411 | KAT6A | c.4877C>T (p.Pro1626Leu) c.4883C>T (p.Pro1628Leu) c.3558C>T c.5009C>T (p.Pro1670Leu) c.4988C>T (p.Pro1663Leu) c.4895C>T (p.Pro1632Leu) c.3449C>T (p.Pro1150Leu) | gnomAD v4 |
| 8 | g.41933343G>C | CA371064414 | KAT6A | c.4877C>G (p.Pro1626Arg) c.4883C>G (p.Pro1628Arg) c.3558C>G c.5009C>G (p.Pro1670Arg) c.4988C>G (p.Pro1663Arg) c.4895C>G (p.Pro1632Arg) c.3449C>G (p.Pro1150Arg) | |
| 8 | g.41933343G>T | CA371064413 | KAT6A | c.4877C>A (p.Pro1626His) c.4883C>A (p.Pro1628His) c.3558C>A c.5009C>A (p.Pro1670His) c.4988C>A (p.Pro1663His) c.4895C>A (p.Pro1632His) c.3449C>A (p.Pro1150His) | |
| 8 | g.41933344G>A | CA4729414 | KAT6A | c.4876C>T (p.Pro1626Ser) c.4882C>T (p.Pro1628Ser) c.3557C>T c.5008C>T (p.Pro1670Ser) c.4987C>T (p.Pro1663Ser) c.4894C>T (p.Pro1632Ser) c.3448C>T (p.Pro1150Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933344G>C | CA371064417 | KAT6A | c.4876C>G (p.Pro1626Ala) c.4882C>G (p.Pro1628Ala) c.3557C>G c.5008C>G (p.Pro1670Ala) c.4987C>G (p.Pro1663Ala) c.4894C>G (p.Pro1632Ala) c.3448C>G (p.Pro1150Ala) | gnomAD v4 |
| 8 | g.41933344G= | CA1779195891 | KAT6A | c.4876C= (p.Pro1626=) c.4882C= (p.Pro1628=) c.3557C= c.5008C= (p.Pro1670=) c.4987C= (p.Pro1663=) c.4894C= (p.Pro1632=) c.3448C= (p.Pro1150=) | |
| 8 | g.41933344G>T | CA371064420 | KAT6A | c.4876C>A (p.Pro1626Thr) c.4882C>A (p.Pro1628Thr) c.3557C>A c.5008C>A (p.Pro1670Thr) c.4987C>A (p.Pro1663Thr) c.4894C>A (p.Pro1632Thr) c.3448C>A (p.Pro1150Thr) | gnomAD v4 |
| 8 | g.41933345C>A | CA371064423 | KAT6A | c.4875G>T (p.Gln1625His) c.4881G>T (p.Gln1627His) c.3556G>T c.5007G>T (p.Gln1669His) c.4986G>T (p.Gln1662His) c.4893G>T (p.Gln1631His) c.3447G>T (p.Gln1149His) | gnomAD v4 |
| 8 | g.41933345C>G | CA371064425 | KAT6A | c.4875G>C (p.Gln1625His) c.4881G>C (p.Gln1627His) c.3556G>C c.5007G>C (p.Gln1669His) c.4986G>C (p.Gln1662His) c.4893G>C (p.Gln1631His) c.3447G>C (p.Gln1149His) | |
| 8 | g.41933345C>T | CA460783529 | KAT6A | c.4875G>A (p.Gln1625=) c.4881G>A (p.Gln1627=) c.3556G>A c.5007G>A (p.Gln1669=) c.4986G>A (p.Gln1662=) c.4893G>A (p.Gln1631=) c.3447G>A (p.Gln1149=) | gnomAD v4 |
| 8 | g.41933346T>A | CA371064427 | KAT6A | c.4874A>T (p.Gln1625Leu) c.4880A>T (p.Gln1627Leu) c.3555A>T c.5006A>T (p.Gln1669Leu) c.4985A>T (p.Gln1662Leu) c.4892A>T (p.Gln1631Leu) c.3446A>T (p.Gln1149Leu) | |
| 8 | g.41933346T>C | CA371064430 | KAT6A | c.4874A>G (p.Gln1625Arg) c.4880A>G (p.Gln1627Arg) c.3555A>G c.5006A>G (p.Gln1669Arg) c.4985A>G (p.Gln1662Arg) c.4892A>G (p.Gln1631Arg) c.3446A>G (p.Gln1149Arg) | |
| 8 | g.41933346T>G | CA371064432 | KAT6A | c.4874A>C (p.Gln1625Pro) c.4880A>C (p.Gln1627Pro) c.3555A>C c.5006A>C (p.Gln1669Pro) c.4985A>C (p.Gln1662Pro) c.4892A>C (p.Gln1631Pro) c.3446A>C (p.Gln1149Pro) | |
| 8 | g.41933347G>A | CA371064434 | KAT6A | c.4873C>T (p.Gln1625Ter) c.4879C>T (p.Gln1627Ter) c.3554C>T c.5005C>T (p.Gln1669Ter) c.4984C>T (p.Gln1662Ter) c.4891C>T (p.Gln1631Ter) c.3445C>T (p.Gln1149Ter) | gnomAD v4 |
| 8 | g.41933347G>C | CA371064436 | KAT6A | c.4873C>G (p.Gln1625Glu) c.4879C>G (p.Gln1627Glu) c.3554C>G c.5005C>G (p.Gln1669Glu) c.4984C>G (p.Gln1662Glu) c.4891C>G (p.Gln1631Glu) c.3445C>G (p.Gln1149Glu) | |
| 8 | g.41933347G>T | CA371064438 | KAT6A | c.4873C>A (p.Gln1625Lys) c.4879C>A (p.Gln1627Lys) c.3554C>A c.5005C>A (p.Gln1669Lys) c.4984C>A (p.Gln1662Lys) c.4891C>A (p.Gln1631Lys) c.3445C>A (p.Gln1149Lys) | |
| 8 | g.41933348G>A | CA460783534 | KAT6A | c.4872C>T (p.Val1624=) c.4878C>T (p.Val1626=) c.3553C>T c.5004C>T (p.Val1668=) c.4983C>T (p.Val1661=) c.4890C>T (p.Val1630=) c.3444C>T (p.Val1148=) | |
| 8 | g.41933348G>C | CA4729415 | KAT6A | c.4872C>G (p.Val1624=) c.4878C>G (p.Val1626=) c.3553C>G c.5004C>G (p.Val1668=) c.4983C>G (p.Val1661=) c.4890C>G (p.Val1630=) c.3444C>G (p.Val1148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933348G= | CA1779195892 | KAT6A | c.4872C= (p.Val1624=) c.4878C= (p.Val1626=) c.3553C= c.5004C= (p.Val1668=) c.4983C= (p.Val1661=) c.4890C= (p.Val1630=) c.3444C= (p.Val1148=) | |
| 8 | g.41933348G>T | CA460783535 | KAT6A | c.4872C>A (p.Val1624=) c.4878C>A (p.Val1626=) c.3553C>A c.5004C>A (p.Val1668=) c.4983C>A (p.Val1661=) c.4890C>A (p.Val1630=) c.3444C>A (p.Val1148=) | |
| 8 | g.41933349A= | CA1779195893 | KAT6A | c.4871T= (p.Val1624=) c.4877T= (p.Val1626=) c.3552T= c.5003T= (p.Val1668=) c.4982T= (p.Val1661=) c.4889T= (p.Val1630=) c.3443T= (p.Val1148=) | |
| 8 | g.41933349A>C | CA371064441 | KAT6A | c.4871T>G (p.Val1624Gly) c.4877T>G (p.Val1626Gly) c.3552T>G c.5003T>G (p.Val1668Gly) c.4982T>G (p.Val1661Gly) c.4889T>G (p.Val1630Gly) c.3443T>G (p.Val1148Gly) | dbSNP gnomAD v4 |
| 8 | g.41933349A>G | CA371064439 | KAT6A | c.4871T>C (p.Val1624Ala) c.4877T>C (p.Val1626Ala) c.3552T>C c.5003T>C (p.Val1668Ala) c.4982T>C (p.Val1661Ala) c.4889T>C (p.Val1630Ala) c.3443T>C (p.Val1148Ala) | |
| 8 | g.41933349A>T | CA371064440 | KAT6A | c.4871T>A (p.Val1624Asp) c.4877T>A (p.Val1626Asp) c.3552T>A c.5003T>A (p.Val1668Asp) c.4982T>A (p.Val1661Asp) c.4889T>A (p.Val1630Asp) c.3443T>A (p.Val1148Asp) | |
| 8 | g.41933350C>A | CA371064442 | KAT6A | c.4870G>T (p.Val1624Phe) c.4876G>T (p.Val1626Phe) c.3551G>T c.5002G>T (p.Val1668Phe) c.4981G>T (p.Val1661Phe) c.4888G>T (p.Val1630Phe) c.3442G>T (p.Val1148Phe) | |
| 8 | g.41933350C= | CA1779195894 | KAT6A | c.4870G= (p.Val1624=) c.4876G= (p.Val1626=) c.3551G= c.5002G= (p.Val1668=) c.4981G= (p.Val1661=) c.4888G= (p.Val1630=) c.3442G= (p.Val1148=) | |
| 8 | g.41933350C>G | CA371064443 | KAT6A | c.4870G>C (p.Val1624Leu) c.4876G>C (p.Val1626Leu) c.3551G>C c.5002G>C (p.Val1668Leu) c.4981G>C (p.Val1661Leu) c.4888G>C (p.Val1630Leu) c.3442G>C (p.Val1148Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933350C>T | CA4729416 | KAT6A | c.4870G>A (p.Val1624Ile) c.4876G>A (p.Val1626Ile) c.3551G>A c.5002G>A (p.Val1668Ile) c.4981G>A (p.Val1661Ile) c.4888G>A (p.Val1630Ile) c.3442G>A (p.Val1148Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933351G>A | CA460783539 | KAT6A | c.4869C>T (p.Ser1623=) c.4875C>T (p.Ser1625=) c.3550C>T c.5001C>T (p.Ser1667=) c.4980C>T (p.Ser1660=) c.4887C>T (p.Ser1629=) c.3441C>T (p.Ser1147=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.41933351G>C | CA371064444 | KAT6A | c.4869C>G (p.Ser1623Arg) c.4875C>G (p.Ser1625Arg) c.3550C>G c.5001C>G (p.Ser1667Arg) c.4980C>G (p.Ser1660Arg) c.4887C>G (p.Ser1629Arg) c.3441C>G (p.Ser1147Arg) | |
| 8 | g.41933351G= | CA1779195895 | KAT6A | c.4869C= (p.Ser1623=) c.4875C= (p.Ser1625=) c.3550C= c.5001C= (p.Ser1667=) c.4980C= (p.Ser1660=) c.4887C= (p.Ser1629=) c.3441C= (p.Ser1147=) | |
| 8 | g.41933351G>T | CA371064445 | KAT6A | c.4869C>A (p.Ser1623Arg) c.4875C>A (p.Ser1625Arg) c.3550C>A c.5001C>A (p.Ser1667Arg) c.4980C>A (p.Ser1660Arg) c.4887C>A (p.Ser1629Arg) c.3441C>A (p.Ser1147Arg) | gnomAD v4 |
| 8 | g.41933352C>A | CA371064446 | KAT6A | c.4868G>T (p.Ser1623Ile) c.4874G>T (p.Ser1625Ile) c.3549G>T c.5000G>T (p.Ser1667Ile) c.4979G>T (p.Ser1660Ile) c.4886G>T (p.Ser1629Ile) c.3440G>T (p.Ser1147Ile) | |
| 8 | g.41933352C>G | CA371064447 | KAT6A | c.4868G>C (p.Ser1623Thr) c.4874G>C (p.Ser1625Thr) c.3549G>C c.5000G>C (p.Ser1667Thr) c.4979G>C (p.Ser1660Thr) c.4886G>C (p.Ser1629Thr) c.3440G>C (p.Ser1147Thr) | |
| 8 | g.41933352C>T | CA371064448 | KAT6A | c.4868G>A (p.Ser1623Asn) c.4874G>A (p.Ser1625Asn) c.3549G>A c.5000G>A (p.Ser1667Asn) c.4979G>A (p.Ser1660Asn) c.4886G>A (p.Ser1629Asn) c.3440G>A (p.Ser1147Asn) | |
| 8 | g.41933353T>A | CA371064449 | KAT6A | c.4867A>T (p.Ser1623Cys) c.4873A>T (p.Ser1625Cys) c.3548A>T c.4999A>T (p.Ser1667Cys) c.4978A>T (p.Ser1660Cys) c.4885A>T (p.Ser1629Cys) c.3439A>T (p.Ser1147Cys) | |
| 8 | g.41933353T>C | CA371064450 | KAT6A | c.4867A>G (p.Ser1623Gly) c.4873A>G (p.Ser1625Gly) c.3548A>G c.4999A>G (p.Ser1667Gly) c.4978A>G (p.Ser1660Gly) c.4885A>G (p.Ser1629Gly) c.3439A>G (p.Ser1147Gly) | |
| 8 | g.41933353T>G | CA371064451 | KAT6A | c.4867A>C (p.Ser1623Arg) c.4873A>C (p.Ser1625Arg) c.3548A>C c.4999A>C (p.Ser1667Arg) c.4978A>C (p.Ser1660Arg) c.4885A>C (p.Ser1629Arg) c.3439A>C (p.Ser1147Arg) | |
| 8 | g.41933354G>A | CA460783543 | KAT6A | c.4866C>T (p.Ser1622=) c.4872C>T (p.Ser1624=) c.3547C>T c.4998C>T (p.Ser1666=) c.4977C>T (p.Ser1659=) c.4884C>T (p.Ser1628=) c.3438C>T (p.Ser1146=) | |
| 8 | g.41933354G>C | CA371064453 | KAT6A | c.4866C>G (p.Ser1622Arg) c.4872C>G (p.Ser1624Arg) c.3547C>G c.4998C>G (p.Ser1666Arg) c.4977C>G (p.Ser1659Arg) c.4884C>G (p.Ser1628Arg) c.3438C>G (p.Ser1146Arg) | gnomAD v4 |
| 8 | g.41933354G>T | CA371064452 | KAT6A | c.4866C>A (p.Ser1622Arg) c.4872C>A (p.Ser1624Arg) c.3547C>A c.4998C>A (p.Ser1666Arg) c.4977C>A (p.Ser1659Arg) c.4884C>A (p.Ser1628Arg) c.3438C>A (p.Ser1146Arg) | |
| 8 | g.41933355C>A | CA175939089 | KAT6A | c.4865G>T (p.Ser1622Ile) c.4871G>T (p.Ser1624Ile) c.3546G>T c.4997G>T (p.Ser1666Ile) c.4976G>T (p.Ser1659Ile) c.4883G>T (p.Ser1628Ile) c.3437G>T (p.Ser1146Ile) | dbSNP gnomAD v4 |
| 8 | g.41933355C= | CA1779195896 | KAT6A | c.4865G= (p.Ser1622=) c.4871G= (p.Ser1624=) c.3546G= c.4997G= (p.Ser1666=) c.4976G= (p.Ser1659=) c.4883G= (p.Ser1628=) c.3437G= (p.Ser1146=) | |
| 8 | g.41933355C>G | CA371064454 | KAT6A | c.4865G>C (p.Ser1622Thr) c.4871G>C (p.Ser1624Thr) c.3546G>C c.4997G>C (p.Ser1666Thr) c.4976G>C (p.Ser1659Thr) c.4883G>C (p.Ser1628Thr) c.3437G>C (p.Ser1146Thr) | |
| 8 | g.41933355C>T | CA371064455 | KAT6A | c.4865G>A (p.Ser1622Asn) c.4871G>A (p.Ser1624Asn) c.3546G>A c.4997G>A (p.Ser1666Asn) c.4976G>A (p.Ser1659Asn) c.4883G>A (p.Ser1628Asn) c.3437G>A (p.Ser1146Asn) | |
| 8 | g.41933356T>A | CA371064456 | KAT6A | c.4864A>T (p.Ser1622Cys) c.4870A>T (p.Ser1624Cys) c.3545A>T c.4996A>T (p.Ser1666Cys) c.4975A>T (p.Ser1659Cys) c.4882A>T (p.Ser1628Cys) c.3436A>T (p.Ser1146Cys) | |
| 8 | g.41933356T>C | CA371064457 | KAT6A | c.4864A>G (p.Ser1622Gly) c.4870A>G (p.Ser1624Gly) c.3545A>G c.4996A>G (p.Ser1666Gly) c.4975A>G (p.Ser1659Gly) c.4882A>G (p.Ser1628Gly) c.3436A>G (p.Ser1146Gly) | |
| 8 | g.41933356T>G | CA371064458 | KAT6A | c.4864A>C (p.Ser1622Arg) c.4870A>C (p.Ser1624Arg) c.3545A>C c.4996A>C (p.Ser1666Arg) c.4975A>C (p.Ser1659Arg) c.4882A>C (p.Ser1628Arg) c.3436A>C (p.Ser1146Arg) | |
| 8 | g.41933357C>A | CA371064459 | KAT6A | c.4863G>T (p.Gln1621His) c.4869G>T (p.Gln1623His) c.3544G>T c.4995G>T (p.Gln1665His) c.4974G>T (p.Gln1658His) c.4881G>T (p.Gln1627His) c.3435G>T (p.Gln1145His) | |
| 8 | g.41933357C>G | CA371064460 | KAT6A | c.4863G>C (p.Gln1621His) c.4869G>C (p.Gln1623His) c.3544G>C c.4995G>C (p.Gln1665His) c.4974G>C (p.Gln1658His) c.4881G>C (p.Gln1627His) c.3435G>C (p.Gln1145His) | |
| 8 | g.41933357C>T | CA460783547 | KAT6A | c.4863G>A (p.Gln1621=) c.4869G>A (p.Gln1623=) c.3544G>A c.4995G>A (p.Gln1665=) c.4974G>A (p.Gln1658=) c.4881G>A (p.Gln1627=) c.3435G>A (p.Gln1145=) | gnomAD v4 |
| 8 | g.41933358T>A | CA371064461 | KAT6A | c.4862A>T (p.Gln1621Leu) c.4868A>T (p.Gln1623Leu) c.3543A>T c.4994A>T (p.Gln1665Leu) c.4973A>T (p.Gln1658Leu) c.4880A>T (p.Gln1627Leu) c.3434A>T (p.Gln1145Leu) | |
| 8 | g.41933358T>C | CA371064462 | KAT6A | c.4862A>G (p.Gln1621Arg) c.4868A>G (p.Gln1623Arg) c.3543A>G c.4994A>G (p.Gln1665Arg) c.4973A>G (p.Gln1658Arg) c.4880A>G (p.Gln1627Arg) c.3434A>G (p.Gln1145Arg) | |
| 8 | g.41933358T>G | CA371064463 | KAT6A | c.4862A>C (p.Gln1621Pro) c.4868A>C (p.Gln1623Pro) c.3543A>C c.4994A>C (p.Gln1665Pro) c.4973A>C (p.Gln1658Pro) c.4880A>C (p.Gln1627Pro) c.3434A>C (p.Gln1145Pro) | |
| 8 | g.41933359G>A | CA371064464 | KAT6A | c.4861C>T (p.Gln1621Ter) c.4867C>T (p.Gln1623Ter) c.3542C>T c.4993C>T (p.Gln1665Ter) c.4972C>T (p.Gln1658Ter) c.4879C>T (p.Gln1627Ter) c.3433C>T (p.Gln1145Ter) | ClinVar dbSNP |
| 8 | g.41933359G>C | CA371064465 | KAT6A | c.4861C>G (p.Gln1621Glu) c.4867C>G (p.Gln1623Glu) c.3542C>G c.4993C>G (p.Gln1665Glu) c.4972C>G (p.Gln1658Glu) c.4879C>G (p.Gln1627Glu) c.3433C>G (p.Gln1145Glu) | |
| 8 | g.41933359G>T | CA371064466 | KAT6A | c.4861C>A (p.Gln1621Lys) c.4867C>A (p.Gln1623Lys) c.3542C>A c.4993C>A (p.Gln1665Lys) c.4972C>A (p.Gln1658Lys) c.4879C>A (p.Gln1627Lys) c.3433C>A (p.Gln1145Lys) | |
| 8 | g.41933360C>A | CA371064468 | KAT6A | c.4860G>T (p.Gln1620His) c.4866G>T (p.Gln1622His) c.3541G>T c.4992G>T (p.Gln1664His) c.4971G>T (p.Gln1657His) c.4878G>T (p.Gln1626His) c.3432G>T (p.Gln1144His) | gnomAD v4 |
| 8 | g.41933360C>G | CA371064467 | KAT6A | c.4860G>C (p.Gln1620His) c.4866G>C (p.Gln1622His) c.3541G>C c.4992G>C (p.Gln1664His) c.4971G>C (p.Gln1657His) c.4878G>C (p.Gln1626His) c.3432G>C (p.Gln1144His) | |
| 8 | g.41933360C>T | CA460783551 | KAT6A | c.4860G>A (p.Gln1620=) c.4866G>A (p.Gln1622=) c.3541G>A c.4992G>A (p.Gln1664=) c.4971G>A (p.Gln1657=) c.4878G>A (p.Gln1626=) c.3432G>A (p.Gln1144=) | ClinVar gnomAD v4 |
| 8 | g.41933361T>A | CA371064469 | KAT6A | c.4859A>T (p.Gln1620Leu) c.4865A>T (p.Gln1622Leu) c.3540A>T c.4991A>T (p.Gln1664Leu) c.4970A>T (p.Gln1657Leu) c.4877A>T (p.Gln1626Leu) c.3431A>T (p.Gln1144Leu) | |
| 8 | g.41933361T>C | CA371064471 | KAT6A | c.4859A>G (p.Gln1620Arg) c.4865A>G (p.Gln1622Arg) c.3540A>G c.4991A>G (p.Gln1664Arg) c.4970A>G (p.Gln1657Arg) c.4877A>G (p.Gln1626Arg) c.3431A>G (p.Gln1144Arg) | ClinVar |
| 8 | g.41933361T>G | CA371064470 | KAT6A | c.4859A>C (p.Gln1620Pro) c.4865A>C (p.Gln1622Pro) c.3540A>C c.4991A>C (p.Gln1664Pro) c.4970A>C (p.Gln1657Pro) c.4877A>C (p.Gln1626Pro) c.3431A>C (p.Gln1144Pro) | |
| 8 | g.41933362G>A | CA371064472 | KAT6A | c.4858C>T (p.Gln1620Ter) c.4864C>T (p.Gln1622Ter) c.3539C>T c.4990C>T (p.Gln1664Ter) c.4969C>T (p.Gln1657Ter) c.4876C>T (p.Gln1626Ter) c.3430C>T (p.Gln1144Ter) | gnomAD v4 |
| 8 | g.41933362G>C | CA371064474 | KAT6A | c.4858C>G (p.Gln1620Glu) c.4864C>G (p.Gln1622Glu) c.3539C>G c.4990C>G (p.Gln1664Glu) c.4969C>G (p.Gln1657Glu) c.4876C>G (p.Gln1626Glu) c.3430C>G (p.Gln1144Glu) | |
| 8 | g.41933362G>T | CA371064473 | KAT6A | c.4858C>A (p.Gln1620Lys) c.4864C>A (p.Gln1622Lys) c.3539C>A c.4990C>A (p.Gln1664Lys) c.4969C>A (p.Gln1657Lys) c.4876C>A (p.Gln1626Lys) c.3430C>A (p.Gln1144Lys) | |
| 8 | g.41933363C>A | CA371064475 | KAT6A | c.4857G>T (p.Met1619Ile) c.4863G>T (p.Met1621Ile) c.3538G>T c.4989G>T (p.Met1663Ile) c.4968G>T (p.Met1656Ile) c.4875G>T (p.Met1625Ile) c.3429G>T (p.Met1143Ile) | gnomAD v4 |
| 8 | g.41933363C= | CA1779195897 | KAT6A | c.4857G= (p.Met1619=) c.4863G= (p.Met1621=) c.3538G= c.4989G= (p.Met1663=) c.4968G= (p.Met1656=) c.4875G= (p.Met1625=) c.3429G= (p.Met1143=) | |
| 8 | g.41933363C>G | CA371064476 | KAT6A | c.4857G>C (p.Met1619Ile) c.4863G>C (p.Met1621Ile) c.3538G>C c.4989G>C (p.Met1663Ile) c.4968G>C (p.Met1656Ile) c.4875G>C (p.Met1625Ile) c.3429G>C (p.Met1143Ile) | |
| 8 | g.41933363C>T | CA371064477 | KAT6A | c.4857G>A (p.Met1619Ile) c.4863G>A (p.Met1621Ile) c.3538G>A c.4989G>A (p.Met1663Ile) c.4968G>A (p.Met1656Ile) c.4875G>A (p.Met1625Ile) c.3429G>A (p.Met1143Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933364A>C | CA371064478 | KAT6A | c.4856T>G (p.Met1619Arg) c.4862T>G (p.Met1621Arg) c.3537T>G c.4988T>G (p.Met1663Arg) c.4967T>G (p.Met1656Arg) c.4874T>G (p.Met1625Arg) c.3428T>G (p.Met1143Arg) | |
| 8 | g.41933364A>G | CA371064479 | KAT6A | c.4856T>C (p.Met1619Thr) c.4862T>C (p.Met1621Thr) c.3537T>C c.4988T>C (p.Met1663Thr) c.4967T>C (p.Met1656Thr) c.4874T>C (p.Met1625Thr) c.3428T>C (p.Met1143Thr) | |
| 8 | g.41933364A>T | CA371064480 | KAT6A | c.4856T>A (p.Met1619Lys) c.4862T>A (p.Met1621Lys) c.3537T>A c.4988T>A (p.Met1663Lys) c.4967T>A (p.Met1656Lys) c.4874T>A (p.Met1625Lys) c.3428T>A (p.Met1143Lys) | |
| 8 | g.41933365T>A | CA371064481 | KAT6A | c.4855A>T (p.Met1619Leu) c.4861A>T (p.Met1621Leu) c.3536A>T c.4987A>T (p.Met1663Leu) c.4966A>T (p.Met1656Leu) c.4873A>T (p.Met1625Leu) c.3427A>T (p.Met1143Leu) | |
| 8 | g.41933365T>C | CA371064482 | KAT6A | c.4855A>G (p.Met1619Val) c.4861A>G (p.Met1621Val) c.3536A>G c.4987A>G (p.Met1663Val) c.4966A>G (p.Met1656Val) c.4873A>G (p.Met1625Val) c.3427A>G (p.Met1143Val) | |
| 8 | g.41933365T>G | CA371064483 | KAT6A | c.4855A>C (p.Met1619Leu) c.4861A>C (p.Met1621Leu) c.3536A>C c.4987A>C (p.Met1663Leu) c.4966A>C (p.Met1656Leu) c.4873A>C (p.Met1625Leu) c.3427A>C (p.Met1143Leu) | |
| 8 | g.41933365T= | CA1779195898 | KAT6A | c.4855A= (p.Met1619=) c.4861A= (p.Met1621=) c.3536A= c.4987A= (p.Met1663=) c.4966A= (p.Met1656=) c.4873A= (p.Met1625=) c.3427A= (p.Met1143=) | |
| 8 | g.41933366C>A | CA371064484 | KAT6A | c.4854G>T (p.Met1618Ile) c.4860G>T (p.Met1620Ile) c.3535G>T c.4986G>T (p.Met1662Ile) c.4965G>T (p.Met1655Ile) c.4872G>T (p.Met1624Ile) c.3426G>T (p.Met1142Ile) | gnomAD v4 |
| 8 | g.41933366C>G | CA371064485 | KAT6A | c.4854G>C (p.Met1618Ile) c.4860G>C (p.Met1620Ile) c.3535G>C c.4986G>C (p.Met1662Ile) c.4965G>C (p.Met1655Ile) c.4872G>C (p.Met1624Ile) c.3426G>C (p.Met1142Ile) | |
| 8 | g.41933366C>T | CA371064486 | KAT6A | c.4854G>A (p.Met1618Ile) c.4860G>A (p.Met1620Ile) c.3535G>A c.4986G>A (p.Met1662Ile) c.4965G>A (p.Met1655Ile) c.4872G>A (p.Met1624Ile) c.3426G>A (p.Met1142Ile) | |
| 8 | g.41933373_41933390dup | CA1779195899 | KAT6A | c.4837_4854dup (p.Met1618_Met1619insGlySerSerCysSerMet) c.4843_4860dup (p.Met1620_Met1621insGlySerSerCysSerMet) c.3518_3535dup c.4969_4986dup (p.Met1662_Met1663insGlySerSerCysSerMet) c.4948_4965dup (p.Met1655_Met1656insGlySerSerCysSerMet) c.4855_4872dup (p.Met1624_Met1625insGlySerSerCysSerMet) c.3409_3426dup (p.Met1142_Met1143insGlySerSerCysSerMet) | ClinVar dbSNP |
| 8 | g.41933373_41933390del | CA2580078484 | KAT6A | c.4837_4854del (p.Gly1613_Met1618del) c.4843_4860del (p.Gly1615_Met1620del) c.3518_3535del c.4969_4986del (p.Gly1657_Met1662del) c.4948_4965del (p.Gly1650_Met1655del) c.4855_4872del (p.Gly1619_Met1624del) c.3409_3426del (p.Gly1137_Met1142del) | ClinVar gnomAD v4 |
| 8 | g.41933367A= | CA1779195900 | KAT6A | c.4853T= (p.Met1618=) c.4859T= (p.Met1620=) c.3534T= c.4985T= (p.Met1662=) c.4964T= (p.Met1655=) c.4871T= (p.Met1624=) c.3425T= (p.Met1142=) | |
| 8 | g.41933367A>C | CA371064489 | KAT6A | c.4853T>G (p.Met1618Arg) c.4859T>G (p.Met1620Arg) c.3534T>G c.4985T>G (p.Met1662Arg) c.4964T>G (p.Met1655Arg) c.4871T>G (p.Met1624Arg) c.3425T>G (p.Met1142Arg) | |
| 8 | g.41933367A>G | CA371064487 | KAT6A | c.4853T>C (p.Met1618Thr) c.4859T>C (p.Met1620Thr) c.3534T>C c.4985T>C (p.Met1662Thr) c.4964T>C (p.Met1655Thr) c.4871T>C (p.Met1624Thr) c.3425T>C (p.Met1142Thr) | dbSNP |
| 8 | g.41933367A>T | CA371064488 | KAT6A | c.4853T>A (p.Met1618Lys) c.4859T>A (p.Met1620Lys) c.3534T>A c.4985T>A (p.Met1662Lys) c.4964T>A (p.Met1655Lys) c.4871T>A (p.Met1624Lys) c.3425T>A (p.Met1142Lys) | |
| 8 | g.41933368T>A | CA371064490 | KAT6A | c.4852A>T (p.Met1618Leu) c.4858A>T (p.Met1620Leu) c.3533A>T c.4984A>T (p.Met1662Leu) c.4963A>T (p.Met1655Leu) c.4870A>T (p.Met1624Leu) c.3424A>T (p.Met1142Leu) | gnomAD v4 |
| 8 | g.41933368T>C | CA371064491 | KAT6A | c.4852A>G (p.Met1618Val) c.4858A>G (p.Met1620Val) c.3533A>G c.4984A>G (p.Met1662Val) c.4963A>G (p.Met1655Val) c.4870A>G (p.Met1624Val) c.3424A>G (p.Met1142Val) | |
| 8 | g.41933368T>G | CA371064492 | KAT6A | c.4852A>C (p.Met1618Leu) c.4858A>C (p.Met1620Leu) c.3533A>C c.4984A>C (p.Met1662Leu) c.4963A>C (p.Met1655Leu) c.4870A>C (p.Met1624Leu) c.3424A>C (p.Met1142Leu) | |
| 8 | g.41933369G>A | CA460783557 | KAT6A | c.4851C>T (p.Ser1617=) c.4857C>T (p.Ser1619=) c.3532C>T c.4983C>T (p.Ser1661=) c.4962C>T (p.Ser1654=) c.4869C>T (p.Ser1623=) c.3423C>T (p.Ser1141=) | |
| 8 | g.41933369G>C | CA371064493 | KAT6A | c.4851C>G (p.Ser1617Arg) c.4857C>G (p.Ser1619Arg) c.3532C>G c.4983C>G (p.Ser1661Arg) c.4962C>G (p.Ser1654Arg) c.4869C>G (p.Ser1623Arg) c.3423C>G (p.Ser1141Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933369G= | CA1779195901 | KAT6A | c.4851C= (p.Ser1617=) c.4857C= (p.Ser1619=) c.3532C= c.4983C= (p.Ser1661=) c.4962C= (p.Ser1654=) c.4869C= (p.Ser1623=) c.3423C= (p.Ser1141=) | |
| 8 | g.41933369G>T | CA371064494 | KAT6A | c.4851C>A (p.Ser1617Arg) c.4857C>A (p.Ser1619Arg) c.3532C>A c.4983C>A (p.Ser1661Arg) c.4962C>A (p.Ser1654Arg) c.4869C>A (p.Ser1623Arg) c.3423C>A (p.Ser1141Arg) | gnomAD v4 |
| 8 | g.41933370C>A | CA371064495 | KAT6A | c.4850G>T (p.Ser1617Ile) c.4856G>T (p.Ser1619Ile) c.3531G>T c.4982G>T (p.Ser1661Ile) c.4961G>T (p.Ser1654Ile) c.4868G>T (p.Ser1623Ile) c.3422G>T (p.Ser1141Ile) | gnomAD v4 |
| 8 | g.41933370C>G | CA371064496 | KAT6A | c.4850G>C (p.Ser1617Thr) c.4856G>C (p.Ser1619Thr) c.3531G>C c.4982G>C (p.Ser1661Thr) c.4961G>C (p.Ser1654Thr) c.4868G>C (p.Ser1623Thr) c.3422G>C (p.Ser1141Thr) | |
| 8 | g.41933370C>T | CA371064497 | KAT6A | c.4850G>A (p.Ser1617Asn) c.4856G>A (p.Ser1619Asn) c.3531G>A c.4982G>A (p.Ser1661Asn) c.4961G>A (p.Ser1654Asn) c.4868G>A (p.Ser1623Asn) c.3422G>A (p.Ser1141Asn) | |
| 8 | g.41933371T>A | CA371064498 | KAT6A | c.4849A>T (p.Ser1617Cys) c.4855A>T (p.Ser1619Cys) c.3530A>T c.4981A>T (p.Ser1661Cys) c.4960A>T (p.Ser1654Cys) c.4867A>T (p.Ser1623Cys) c.3421A>T (p.Ser1141Cys) | |
| 8 | g.41933371T>C | CA371064499 | KAT6A | c.4849A>G (p.Ser1617Gly) c.4855A>G (p.Ser1619Gly) c.3530A>G c.4981A>G (p.Ser1661Gly) c.4960A>G (p.Ser1654Gly) c.4867A>G (p.Ser1623Gly) c.3421A>G (p.Ser1141Gly) | |
| 8 | g.41933371T>G | CA371064500 | KAT6A | c.4849A>C (p.Ser1617Arg) c.4855A>C (p.Ser1619Arg) c.3530A>C c.4981A>C (p.Ser1661Arg) c.4960A>C (p.Ser1654Arg) c.4867A>C (p.Ser1623Arg) c.3421A>C (p.Ser1141Arg) | |
| 8 | g.41933372G>A | CA460783644 | KAT6A | c.4848C>T (p.Cys1616=) c.4854C>T (p.Cys1618=) c.3529C>T c.4980C>T (p.Cys1660=) c.4959C>T (p.Cys1653=) c.4866C>T (p.Cys1622=) c.3420C>T (p.Cys1140=) | |
| 8 | g.41933372G>C | CA371064501 | KAT6A | c.4848C>G (p.Cys1616Trp) c.4854C>G (p.Cys1618Trp) c.3529C>G c.4980C>G (p.Cys1660Trp) c.4959C>G (p.Cys1653Trp) c.4866C>G (p.Cys1622Trp) c.3420C>G (p.Cys1140Trp) | |
| 8 | g.41933372G>T | CA371064502 | KAT6A | c.4848C>A (p.Cys1616Ter) c.4854C>A (p.Cys1618Ter) c.3529C>A c.4980C>A (p.Cys1660Ter) c.4959C>A (p.Cys1653Ter) c.4866C>A (p.Cys1622Ter) c.3420C>A (p.Cys1140Ter) | |
| 8 | g.41933373C>A | CA175939093 | KAT6A | c.4847G>T (p.Cys1616Phe) c.4853G>T (p.Cys1618Phe) c.3528G>T c.4979G>T (p.Cys1660Phe) c.4958G>T (p.Cys1653Phe) c.4865G>T (p.Cys1622Phe) c.3419G>T (p.Cys1140Phe) | dbSNP gnomAD v4 |
| 8 | g.41933373C= | CA1779195902 | KAT6A | c.4847G= (p.Cys1616=) c.4853G= (p.Cys1618=) c.3528G= c.4979G= (p.Cys1660=) c.4958G= (p.Cys1653=) c.4865G= (p.Cys1622=) c.3419G= (p.Cys1140=) | |
| 8 | g.41933373C>G | CA371064503 | KAT6A | c.4847G>C (p.Cys1616Ser) c.4853G>C (p.Cys1618Ser) c.3528G>C c.4979G>C (p.Cys1660Ser) c.4958G>C (p.Cys1653Ser) c.4865G>C (p.Cys1622Ser) c.3419G>C (p.Cys1140Ser) | ClinVar |
| 8 | g.41933373C>T | CA371064504 | KAT6A | c.4847G>A (p.Cys1616Tyr) c.4853G>A (p.Cys1618Tyr) c.3528G>A c.4979G>A (p.Cys1660Tyr) c.4958G>A (p.Cys1653Tyr) c.4865G>A (p.Cys1622Tyr) c.3419G>A (p.Cys1140Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933374A>C | CA371064505 | KAT6A | c.4846T>G (p.Cys1616Gly) c.4852T>G (p.Cys1618Gly) c.3527T>G c.4978T>G (p.Cys1660Gly) c.4957T>G (p.Cys1653Gly) c.4864T>G (p.Cys1622Gly) c.3418T>G (p.Cys1140Gly) | |
| 8 | g.41933374A>G | CA371064506 | KAT6A | c.4846T>C (p.Cys1616Arg) c.4852T>C (p.Cys1618Arg) c.3527T>C c.4978T>C (p.Cys1660Arg) c.4957T>C (p.Cys1653Arg) c.4864T>C (p.Cys1622Arg) c.3418T>C (p.Cys1140Arg) | |
| 8 | g.41933374A>T | CA371064507 | KAT6A | c.4846T>A (p.Cys1616Ser) c.4852T>A (p.Cys1618Ser) c.3527T>A c.4978T>A (p.Cys1660Ser) c.4957T>A (p.Cys1653Ser) c.4864T>A (p.Cys1622Ser) c.3418T>A (p.Cys1140Ser) | |
| 8 | g.41933375G>A | CA460783648 | KAT6A | c.4845C>T (p.Ser1615=) c.4851C>T (p.Ser1617=) c.3526C>T c.4977C>T (p.Ser1659=) c.4956C>T (p.Ser1652=) c.4863C>T (p.Ser1621=) c.3417C>T (p.Ser1139=) | ClinVar |
| 8 | g.41933375G>C | CA371064508 | KAT6A | c.4845C>G (p.Ser1615Arg) c.4851C>G (p.Ser1617Arg) c.3526C>G c.4977C>G (p.Ser1659Arg) c.4956C>G (p.Ser1652Arg) c.4863C>G (p.Ser1621Arg) c.3417C>G (p.Ser1139Arg) | |
| 8 | g.41933375G= | CA1779195903 | KAT6A | c.4845C= (p.Ser1615=) c.4851C= (p.Ser1617=) c.3526C= c.4977C= (p.Ser1659=) c.4956C= (p.Ser1652=) c.4863C= (p.Ser1621=) c.3417C= (p.Ser1139=) | |
| 8 | g.41933375G>T | CA371064509 | KAT6A | c.4845C>A (p.Ser1615Arg) c.4851C>A (p.Ser1617Arg) c.3526C>A c.4977C>A (p.Ser1659Arg) c.4956C>A (p.Ser1652Arg) c.4863C>A (p.Ser1621Arg) c.3417C>A (p.Ser1139Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933380_41933382del | CA2499598100 | KAT6A | c.4843_4845del (p.Ser1615del) c.4849_4851del (p.Ser1617del) c.3524_3526del c.4975_4977del (p.Ser1659del) c.4954_4956del (p.Ser1652del) c.4861_4863del (p.Ser1621del) c.3415_3417del (p.Ser1139del) | |
| 8 | g.41933376C>A | CA371064510 | KAT6A | c.4844G>T (p.Ser1615Ile) c.4850G>T (p.Ser1617Ile) c.3525G>T c.4976G>T (p.Ser1659Ile) c.4955G>T (p.Ser1652Ile) c.4862G>T (p.Ser1621Ile) c.3416G>T (p.Ser1139Ile) | gnomAD v4 |
| 8 | g.41933376C>G | CA371064511 | KAT6A | c.4844G>C (p.Ser1615Thr) c.4850G>C (p.Ser1617Thr) c.3525G>C c.4976G>C (p.Ser1659Thr) c.4955G>C (p.Ser1652Thr) c.4862G>C (p.Ser1621Thr) c.3416G>C (p.Ser1139Thr) | |
| 8 | g.41933376C>T | CA371064512 | KAT6A | c.4844G>A (p.Ser1615Asn) c.4850G>A (p.Ser1617Asn) c.3525G>A c.4976G>A (p.Ser1659Asn) c.4955G>A (p.Ser1652Asn) c.4862G>A (p.Ser1621Asn) c.3416G>A (p.Ser1139Asn) | |
| 8 | g.41933377T>A | CA371064513 | KAT6A | c.4843A>T (p.Ser1615Cys) c.4849A>T (p.Ser1617Cys) c.3524A>T c.4975A>T (p.Ser1659Cys) c.4954A>T (p.Ser1652Cys) c.4861A>T (p.Ser1621Cys) c.3415A>T (p.Ser1139Cys) | |
| 8 | g.41933377T>C | CA371064514 | KAT6A | c.4843A>G (p.Ser1615Gly) c.4849A>G (p.Ser1617Gly) c.3524A>G c.4975A>G (p.Ser1659Gly) c.4954A>G (p.Ser1652Gly) c.4861A>G (p.Ser1621Gly) c.3415A>G (p.Ser1139Gly) | |
| 8 | g.41933377T>G | CA371064515 | KAT6A | c.4843A>C (p.Ser1615Arg) c.4849A>C (p.Ser1617Arg) c.3524A>C c.4975A>C (p.Ser1659Arg) c.4954A>C (p.Ser1652Arg) c.4861A>C (p.Ser1621Arg) c.3415A>C (p.Ser1139Arg) | |
| 8 | g.41933378G>A | CA460783654 | KAT6A | c.4842C>T (p.Ser1614=) c.4848C>T (p.Ser1616=) c.3523C>T c.4974C>T (p.Ser1658=) c.4953C>T (p.Ser1651=) c.4860C>T (p.Ser1620=) c.3414C>T (p.Ser1138=) | gnomAD v4 |
| 8 | g.41933378G>C | CA371064516 | KAT6A | c.4842C>G (p.Ser1614Arg) c.4848C>G (p.Ser1616Arg) c.3523C>G c.4974C>G (p.Ser1658Arg) c.4953C>G (p.Ser1651Arg) c.4860C>G (p.Ser1620Arg) c.3414C>G (p.Ser1138Arg) | |
| 8 | g.41933378G>T | CA371064517 | KAT6A | c.4842C>A (p.Ser1614Arg) c.4848C>A (p.Ser1616Arg) c.3523C>A c.4974C>A (p.Ser1658Arg) c.4953C>A (p.Ser1651Arg) c.4860C>A (p.Ser1620Arg) c.3414C>A (p.Ser1138Arg) | |
| 8 | g.41933379C>A | CA371064518 | KAT6A | c.4841G>T (p.Ser1614Ile) c.4847G>T (p.Ser1616Ile) c.3522G>T c.4973G>T (p.Ser1658Ile) c.4952G>T (p.Ser1651Ile) c.4859G>T (p.Ser1620Ile) c.3413G>T (p.Ser1138Ile) | |
| 8 | g.41933379C= | CA1779195904 | KAT6A | c.4841G= (p.Ser1614=) c.4847G= (p.Ser1616=) c.3522G= c.4973G= (p.Ser1658=) c.4952G= (p.Ser1651=) c.4859G= (p.Ser1620=) c.3413G= (p.Ser1138=) | |
| 8 | g.41933379C>G | CA371064519 | KAT6A | c.4841G>C (p.Ser1614Thr) c.4847G>C (p.Ser1616Thr) c.3522G>C c.4973G>C (p.Ser1658Thr) c.4952G>C (p.Ser1651Thr) c.4859G>C (p.Ser1620Thr) c.3413G>C (p.Ser1138Thr) | |
| 8 | g.41933379C>T | CA371064520 | KAT6A | c.4841G>A (p.Ser1614Asn) c.4847G>A (p.Ser1616Asn) c.3522G>A c.4973G>A (p.Ser1658Asn) c.4952G>A (p.Ser1651Asn) c.4859G>A (p.Ser1620Asn) c.3413G>A (p.Ser1138Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933380T>A | CA371064521 | KAT6A | c.4840A>T (p.Ser1614Cys) c.4846A>T (p.Ser1616Cys) c.3521A>T c.4972A>T (p.Ser1658Cys) c.4951A>T (p.Ser1651Cys) c.4858A>T (p.Ser1620Cys) c.3412A>T (p.Ser1138Cys) | |
| 8 | g.41933380T>C | CA371064522 | KAT6A | c.4840A>G (p.Ser1614Gly) c.4846A>G (p.Ser1616Gly) c.3521A>G c.4972A>G (p.Ser1658Gly) c.4951A>G (p.Ser1651Gly) c.4858A>G (p.Ser1620Gly) c.3412A>G (p.Ser1138Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933380T>G | CA371064523 | KAT6A | c.4840A>C (p.Ser1614Arg) c.4846A>C (p.Ser1616Arg) c.3521A>C c.4972A>C (p.Ser1658Arg) c.4951A>C (p.Ser1651Arg) c.4858A>C (p.Ser1620Arg) c.3412A>C (p.Ser1138Arg) | |
| 8 | g.41933380T= | CA1779195905 | KAT6A | c.4840A= (p.Ser1614=) c.4846A= (p.Ser1616=) c.3521A= c.4972A= (p.Ser1658=) c.4951A= (p.Ser1651=) c.4858A= (p.Ser1620=) c.3412A= (p.Ser1138=) | |
| 8 | g.41933381G>A | CA460783662 | KAT6A | c.4839C>T (p.Gly1613=) c.4845C>T (p.Gly1615=) c.3520C>T c.4971C>T (p.Gly1657=) c.4950C>T (p.Gly1650=) c.4857C>T (p.Gly1619=) c.3411C>T (p.Gly1137=) | |
| 8 | g.41933381G>C | CA460783665 | KAT6A | c.4839C>G (p.Gly1613=) c.4845C>G (p.Gly1615=) c.3520C>G c.4971C>G (p.Gly1657=) c.4950C>G (p.Gly1650=) c.4857C>G (p.Gly1619=) c.3411C>G (p.Gly1137=) | |
| 8 | g.41933381G>T | CA460783667 | KAT6A | c.4839C>A (p.Gly1613=) c.4845C>A (p.Gly1615=) c.3520C>A c.4971C>A (p.Gly1657=) c.4950C>A (p.Gly1650=) c.4857C>A (p.Gly1619=) c.3411C>A (p.Gly1137=) | gnomAD v4 |
| 8 | g.41933382C>A | CA371064524 | KAT6A | c.4838G>T (p.Gly1613Val) c.4844G>T (p.Gly1615Val) c.3519G>T c.4970G>T (p.Gly1657Val) c.4949G>T (p.Gly1650Val) c.4856G>T (p.Gly1619Val) c.3410G>T (p.Gly1137Val) | gnomAD v4 |
| 8 | g.41933382C= | CA1779195907 | KAT6A | c.4838G= (p.Gly1613=) c.4844G= (p.Gly1615=) c.3519G= c.4970G= (p.Gly1657=) c.4949G= (p.Gly1650=) c.4856G= (p.Gly1619=) c.3410G= (p.Gly1137=) | |
| 8 | g.41933382C>G | CA371064525 | KAT6A | c.4838G>C (p.Gly1613Ala) c.4844G>C (p.Gly1615Ala) c.3519G>C c.4970G>C (p.Gly1657Ala) c.4949G>C (p.Gly1650Ala) c.4856G>C (p.Gly1619Ala) c.3410G>C (p.Gly1137Ala) | dbSNP |
| 8 | g.41933382C>T | CA371064526 | KAT6A | c.4838G>A (p.Gly1613Asp) c.4844G>A (p.Gly1615Asp) c.3519G>A c.4970G>A (p.Gly1657Asp) c.4949G>A (p.Gly1650Asp) c.4856G>A (p.Gly1619Asp) c.3410G>A (p.Gly1137Asp) | gnomAD v4 |
| 8 | g.41933382_41933391delinsCCCATGCTGG | CA1779195906 | KAT6A | c.4829_4838delinsCCAGCATGGG (p.Ala1610=) c.4835_4844delinsCCAGCATGGG (p.Ala1612=) c.3510_3519delinsCCAGCATGGG c.4961_4970delinsCCAGCATGGG (p.Ala1654=) c.4940_4949delinsCCAGCATGGG (p.Ala1647=) c.4847_4856delinsCCAGCATGGG (p.Ala1616=) c.3401_3410delinsCCAGCATGGG (p.Ala1134=) | |
| 8 | g.41933383C>A | CA371064527 | KAT6A | c.4837G>T (p.Gly1613Cys) c.4843G>T (p.Gly1615Cys) c.3518G>T c.4969G>T (p.Gly1657Cys) c.4948G>T (p.Gly1650Cys) c.4855G>T (p.Gly1619Cys) c.3409G>T (p.Gly1137Cys) | |
| 8 | g.41933383C>G | CA371064528 | KAT6A | c.4837G>C (p.Gly1613Arg) c.4843G>C (p.Gly1615Arg) c.3518G>C c.4969G>C (p.Gly1657Arg) c.4948G>C (p.Gly1650Arg) c.4855G>C (p.Gly1619Arg) c.3409G>C (p.Gly1137Arg) | |
| 8 | g.41933383C>T | CA371064529 | KAT6A | c.4837G>A (p.Gly1613Ser) c.4843G>A (p.Gly1615Ser) c.3518G>A c.4969G>A (p.Gly1657Ser) c.4948G>A (p.Gly1650Ser) c.4855G>A (p.Gly1619Ser) c.3409G>A (p.Gly1137Ser) | |
| 8 | g.41933387_41933395dup | CA581928326 | KAT6A | c.4829_4837dup (p.Met1612_Gly1613insAlaSerMet) c.4835_4843dup (p.Met1614_Gly1615insAlaSerMet) c.3510_3518dup c.4961_4969dup (p.Met1656_Gly1657insAlaSerMet) c.4940_4948dup (p.Met1649_Gly1650insAlaSerMet) c.4847_4855dup (p.Met1618_Gly1619insAlaSerMet) c.3401_3409dup (p.Met1136_Gly1137insAlaSerMet) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933387_41933395del | CA581928327 | KAT6A | c.4829_4837del (p.Ala1610_Met1612del) c.4835_4843del (p.Ala1612_Met1614del) c.3510_3518del c.4961_4969del (p.Ala1654_Met1656del) c.4940_4948del (p.Ala1647_Met1649del) c.4847_4855del (p.Ala1616_Met1618del) c.3401_3409del (p.Ala1134_Met1136del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933384C>A | CA371064532 | KAT6A | c.4836G>T (p.Met1612Ile) c.4842G>T (p.Met1614Ile) c.3517G>T c.4968G>T (p.Met1656Ile) c.4947G>T (p.Met1649Ile) c.4854G>T (p.Met1618Ile) c.3408G>T (p.Met1136Ile) | gnomAD v4 |
| 8 | g.41933384C>G | CA371064531 | KAT6A | c.4836G>C (p.Met1612Ile) c.4842G>C (p.Met1614Ile) c.3517G>C c.4968G>C (p.Met1656Ile) c.4947G>C (p.Met1649Ile) c.4854G>C (p.Met1618Ile) c.3408G>C (p.Met1136Ile) | |
| 8 | g.41933384C>T | CA371064530 | KAT6A | c.4836G>A (p.Met1612Ile) c.4842G>A (p.Met1614Ile) c.3517G>A c.4968G>A (p.Met1656Ile) c.4947G>A (p.Met1649Ile) c.4854G>A (p.Met1618Ile) c.3408G>A (p.Met1136Ile) | |
| 8 | g.41933385A= | CA1779195908 | KAT6A | c.4835T= (p.Met1612=) c.4841T= (p.Met1614=) c.3516T= c.4967T= (p.Met1656=) c.4946T= (p.Met1649=) c.4853T= (p.Met1618=) c.3407T= (p.Met1136=) | |
| 8 | g.41933385A>C | CA371064534 | KAT6A | c.4835T>G (p.Met1612Arg) c.4841T>G (p.Met1614Arg) c.3516T>G c.4967T>G (p.Met1656Arg) c.4946T>G (p.Met1649Arg) c.4853T>G (p.Met1618Arg) c.3407T>G (p.Met1136Arg) | dbSNP |
| 8 | g.41933385A>G | CA371064533 | KAT6A | c.4835T>C (p.Met1612Thr) c.4841T>C (p.Met1614Thr) c.3516T>C c.4967T>C (p.Met1656Thr) c.4946T>C (p.Met1649Thr) c.4853T>C (p.Met1618Thr) c.3407T>C (p.Met1136Thr) | |
| 8 | g.41933385A>T | CA371064535 | KAT6A | c.4835T>A (p.Met1612Lys) c.4841T>A (p.Met1614Lys) c.3516T>A c.4967T>A (p.Met1656Lys) c.4946T>A (p.Met1649Lys) c.4853T>A (p.Met1618Lys) c.3407T>A (p.Met1136Lys) | |
| 8 | g.41933386T>A | CA371064536 | KAT6A | c.4834A>T (p.Met1612Leu) c.4840A>T (p.Met1614Leu) c.3515A>T c.4966A>T (p.Met1656Leu) c.4945A>T (p.Met1649Leu) c.4852A>T (p.Met1618Leu) c.3406A>T (p.Met1136Leu) | ClinVar gnomAD v4 |
| 8 | g.41933386T>C | CA371064537 | KAT6A | c.4834A>G (p.Met1612Val) c.4840A>G (p.Met1614Val) c.3515A>G c.4966A>G (p.Met1656Val) c.4945A>G (p.Met1649Val) c.4852A>G (p.Met1618Val) c.3406A>G (p.Met1136Val) | |
| 8 | g.41933386T>G | CA371064538 | KAT6A | c.4834A>C (p.Met1612Leu) c.4840A>C (p.Met1614Leu) c.3515A>C c.4966A>C (p.Met1656Leu) c.4945A>C (p.Met1649Leu) c.4852A>C (p.Met1618Leu) c.3406A>C (p.Met1136Leu) | |
| 8 | g.41933387G>A | CA460783682 | KAT6A | c.4833C>T (p.Ser1611=) c.4839C>T (p.Ser1613=) c.3514C>T c.4965C>T (p.Ser1655=) c.4944C>T (p.Ser1648=) c.4851C>T (p.Ser1617=) c.3405C>T (p.Ser1135=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933387G>C | CA371064539 | KAT6A | c.4833C>G (p.Ser1611Arg) c.4839C>G (p.Ser1613Arg) c.3514C>G c.4965C>G (p.Ser1655Arg) c.4944C>G (p.Ser1648Arg) c.4851C>G (p.Ser1617Arg) c.3405C>G (p.Ser1135Arg) | |
| 8 | g.41933387G= | CA1779195909 | KAT6A | c.4833C= (p.Ser1611=) c.4839C= (p.Ser1613=) c.3514C= c.4965C= (p.Ser1655=) c.4944C= (p.Ser1648=) c.4851C= (p.Ser1617=) c.3405C= (p.Ser1135=) | |
| 8 | g.41933387G>T | CA371064540 | KAT6A | c.4833C>A (p.Ser1611Arg) c.4839C>A (p.Ser1613Arg) c.3514C>A c.4965C>A (p.Ser1655Arg) c.4944C>A (p.Ser1648Arg) c.4851C>A (p.Ser1617Arg) c.3405C>A (p.Ser1135Arg) | COSMIC |
| 8 | g.41933388C>A | CA371064541 | KAT6A | c.4832G>T (p.Ser1611Ile) c.4838G>T (p.Ser1613Ile) c.3513G>T c.4964G>T (p.Ser1655Ile) c.4943G>T (p.Ser1648Ile) c.4850G>T (p.Ser1617Ile) c.3404G>T (p.Ser1135Ile) | dbSNP gnomAD v4 |
| 8 | g.41933388C= | CA1779195910 | KAT6A | c.4832G= (p.Ser1611=) c.4838G= (p.Ser1613=) c.3513G= c.4964G= (p.Ser1655=) c.4943G= (p.Ser1648=) c.4850G= (p.Ser1617=) c.3404G= (p.Ser1135=) | |
| 8 | g.41933388C>G | CA371064542 | KAT6A | c.4832G>C (p.Ser1611Thr) c.4838G>C (p.Ser1613Thr) c.3513G>C c.4964G>C (p.Ser1655Thr) c.4943G>C (p.Ser1648Thr) c.4850G>C (p.Ser1617Thr) c.3404G>C (p.Ser1135Thr) | |
| 8 | g.41933388C>T | CA4729417 | KAT6A | c.4832G>A (p.Ser1611Asn) c.4838G>A (p.Ser1613Asn) c.3513G>A c.4964G>A (p.Ser1655Asn) c.4943G>A (p.Ser1648Asn) c.4850G>A (p.Ser1617Asn) c.3404G>A (p.Ser1135Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933389T>A | CA371064543 | KAT6A | c.4831A>T (p.Ser1611Cys) c.4837A>T (p.Ser1613Cys) c.3512A>T c.4963A>T (p.Ser1655Cys) c.4942A>T (p.Ser1648Cys) c.4849A>T (p.Ser1617Cys) c.3403A>T (p.Ser1135Cys) | |
| 8 | g.41933389T>C | CA371064544 | KAT6A | c.4831A>G (p.Ser1611Gly) c.4837A>G (p.Ser1613Gly) c.3512A>G c.4963A>G (p.Ser1655Gly) c.4942A>G (p.Ser1648Gly) c.4849A>G (p.Ser1617Gly) c.3403A>G (p.Ser1135Gly) | |
| 8 | g.41933389T>G | CA371064545 | KAT6A | c.4831A>C (p.Ser1611Arg) c.4837A>C (p.Ser1613Arg) c.3512A>C c.4963A>C (p.Ser1655Arg) c.4942A>C (p.Ser1648Arg) c.4849A>C (p.Ser1617Arg) c.3403A>C (p.Ser1135Arg) | |
| 8 | g.41933390G>A | CA4729418 | KAT6A | c.4830C>T (p.Ala1610=) c.4836C>T (p.Ala1612=) c.3511C>T c.4962C>T (p.Ala1654=) c.4941C>T (p.Ala1647=) c.4848C>T (p.Ala1616=) c.3402C>T (p.Ala1134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933390G>C | CA460783692 | KAT6A | c.4830C>G (p.Ala1610=) c.4836C>G (p.Ala1612=) c.3511C>G c.4962C>G (p.Ala1654=) c.4941C>G (p.Ala1647=) c.4848C>G (p.Ala1616=) c.3402C>G (p.Ala1134=) | |
| 8 | g.41933390G= | CA1779195911 | KAT6A | c.4830C= (p.Ala1610=) c.4836C= (p.Ala1612=) c.3511C= c.4962C= (p.Ala1654=) c.4941C= (p.Ala1647=) c.4848C= (p.Ala1616=) c.3402C= (p.Ala1134=) | |
| 8 | g.41933390G>T | CA460783694 | KAT6A | c.4830C>A (p.Ala1610=) c.4836C>A (p.Ala1612=) c.3511C>A c.4962C>A (p.Ala1654=) c.4941C>A (p.Ala1647=) c.4848C>A (p.Ala1616=) c.3402C>A (p.Ala1134=) | |
| 8 | g.41933391G>A | CA371064548 | KAT6A | c.4829C>T (p.Ala1610Val) c.4835C>T (p.Ala1612Val) c.3510C>T c.4961C>T (p.Ala1654Val) c.4940C>T (p.Ala1647Val) c.4847C>T (p.Ala1616Val) c.3401C>T (p.Ala1134Val) | gnomAD v4 |
| 8 | g.41933391G>C | CA371064546 | KAT6A | c.4829C>G (p.Ala1610Gly) c.4835C>G (p.Ala1612Gly) c.3510C>G c.4961C>G (p.Ala1654Gly) c.4940C>G (p.Ala1647Gly) c.4847C>G (p.Ala1616Gly) c.3401C>G (p.Ala1134Gly) | |
| 8 | g.41933391G>T | CA371064547 | KAT6A | c.4829C>A (p.Ala1610Asp) c.4835C>A (p.Ala1612Asp) c.3510C>A c.4961C>A (p.Ala1654Asp) c.4940C>A (p.Ala1647Asp) c.4847C>A (p.Ala1616Asp) c.3401C>A (p.Ala1134Asp) | gnomAD v4 |
| 8 | g.41933392C>A | CA371064549 | KAT6A | c.4828G>T (p.Ala1610Ser) c.4834G>T (p.Ala1612Ser) c.3509G>T c.4960G>T (p.Ala1654Ser) c.4939G>T (p.Ala1647Ser) c.4846G>T (p.Ala1616Ser) c.3400G>T (p.Ala1134Ser) | gnomAD v4 |
| 8 | g.41933392C= | CA1779195912 | KAT6A | c.4828G= (p.Ala1610=) c.4834G= (p.Ala1612=) c.3509G= c.4960G= (p.Ala1654=) c.4939G= (p.Ala1647=) c.4846G= (p.Ala1616=) c.3400G= (p.Ala1134=) | |
| 8 | g.41933392C>G | CA371064550 | KAT6A | c.4828G>C (p.Ala1610Pro) c.4834G>C (p.Ala1612Pro) c.3509G>C c.4960G>C (p.Ala1654Pro) c.4939G>C (p.Ala1647Pro) c.4846G>C (p.Ala1616Pro) c.3400G>C (p.Ala1134Pro) | |
| 8 | g.41933392C>T | CA371064551 | KAT6A | c.4828G>A (p.Ala1610Thr) c.4834G>A (p.Ala1612Thr) c.3509G>A c.4960G>A (p.Ala1654Thr) c.4939G>A (p.Ala1647Thr) c.4846G>A (p.Ala1616Thr) c.3400G>A (p.Ala1134Thr) | dbSNP gnomAD v4 |
| 8 | g.41933393C>A | CA371064552 | KAT6A | c.4827G>T (p.Met1609Ile) c.4833G>T (p.Met1611Ile) c.3508G>T c.4959G>T (p.Met1653Ile) c.4938G>T (p.Met1646Ile) c.4845G>T (p.Met1615Ile) c.3399G>T (p.Met1133Ile) | gnomAD v4 |
| 8 | g.41933393C>G | CA371064553 | KAT6A | c.4827G>C (p.Met1609Ile) c.4833G>C (p.Met1611Ile) c.3508G>C c.4959G>C (p.Met1653Ile) c.4938G>C (p.Met1646Ile) c.4845G>C (p.Met1615Ile) c.3399G>C (p.Met1133Ile) | |
| 8 | g.41933393C>T | CA371064554 | KAT6A | c.4827G>A (p.Met1609Ile) c.4833G>A (p.Met1611Ile) c.3508G>A c.4959G>A (p.Met1653Ile) c.4938G>A (p.Met1646Ile) c.4845G>A (p.Met1615Ile) c.3399G>A (p.Met1133Ile) | |
| 8 | g.41933394A>C | CA371064555 | KAT6A | c.4826T>G (p.Met1609Arg) c.4832T>G (p.Met1611Arg) c.3507T>G c.4958T>G (p.Met1653Arg) c.4937T>G (p.Met1646Arg) c.4844T>G (p.Met1615Arg) c.3398T>G (p.Met1133Arg) | |
| 8 | g.41933394A>G | CA371064556 | KAT6A | c.4826T>C (p.Met1609Thr) c.4832T>C (p.Met1611Thr) c.3507T>C c.4958T>C (p.Met1653Thr) c.4937T>C (p.Met1646Thr) c.4844T>C (p.Met1615Thr) c.3398T>C (p.Met1133Thr) | |
| 8 | g.41933394A>T | CA371064557 | KAT6A | c.4826T>A (p.Met1609Lys) c.4832T>A (p.Met1611Lys) c.3507T>A c.4958T>A (p.Met1653Lys) c.4937T>A (p.Met1646Lys) c.4844T>A (p.Met1615Lys) c.3398T>A (p.Met1133Lys) | |
| 8 | g.41933395T>A | CA371064558 | KAT6A | c.4825A>T (p.Met1609Leu) c.4831A>T (p.Met1611Leu) c.3506A>T c.4957A>T (p.Met1653Leu) c.4936A>T (p.Met1646Leu) c.4843A>T (p.Met1615Leu) c.3397A>T (p.Met1133Leu) | |
| 8 | g.41933395T>C | CA4729419 | KAT6A | c.4825A>G (p.Met1609Val) c.4831A>G (p.Met1611Val) c.3506A>G c.4957A>G (p.Met1653Val) c.4936A>G (p.Met1646Val) c.4843A>G (p.Met1615Val) c.3397A>G (p.Met1133Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933395T>G | CA371064559 | KAT6A | c.4825A>C (p.Met1609Leu) c.4831A>C (p.Met1611Leu) c.3506A>C c.4957A>C (p.Met1653Leu) c.4936A>C (p.Met1646Leu) c.4843A>C (p.Met1615Leu) c.3397A>C (p.Met1133Leu) | dbSNP gnomAD v4 |
| 8 | g.41933395T= | CA1779195913 | KAT6A | c.4825A= (p.Met1609=) c.4831A= (p.Met1611=) c.3506A= c.4957A= (p.Met1653=) c.4936A= (p.Met1646=) c.4843A= (p.Met1615=) c.3397A= (p.Met1133=) | |
| 8 | g.41933396C>A | CA371064561 | KAT6A | c.4824G>T (p.Gln1608His) c.4830G>T (p.Gln1610His) c.3505G>T c.4956G>T (p.Gln1652His) c.4935G>T (p.Gln1645His) c.4842G>T (p.Gln1614His) c.3396G>T (p.Gln1132His) | |
| 8 | g.41933396C>G | CA371064560 | KAT6A | c.4824G>C (p.Gln1608His) c.4830G>C (p.Gln1610His) c.3505G>C c.4956G>C (p.Gln1652His) c.4935G>C (p.Gln1645His) c.4842G>C (p.Gln1614His) c.3396G>C (p.Gln1132His) | |
| 8 | g.41933396C>T | CA460783700 | KAT6A | c.4824G>A (p.Gln1608=) c.4830G>A (p.Gln1610=) c.3505G>A c.4956G>A (p.Gln1652=) c.4935G>A (p.Gln1645=) c.4842G>A (p.Gln1614=) c.3396G>A (p.Gln1132=) | |
| 8 | g.41933397T>A | CA371064562 | KAT6A | c.4823A>T (p.Gln1608Leu) c.4829A>T (p.Gln1610Leu) c.3504A>T c.4955A>T (p.Gln1652Leu) c.4934A>T (p.Gln1645Leu) c.4841A>T (p.Gln1614Leu) c.3395A>T (p.Gln1132Leu) | |
| 8 | g.41933397T>C | CA371064564 | KAT6A | c.4823A>G (p.Gln1608Arg) c.4829A>G (p.Gln1610Arg) c.3504A>G c.4955A>G (p.Gln1652Arg) c.4934A>G (p.Gln1645Arg) c.4841A>G (p.Gln1614Arg) c.3395A>G (p.Gln1132Arg) | |
| 8 | g.41933397T>G | CA371064563 | KAT6A | c.4823A>C (p.Gln1608Pro) c.4829A>C (p.Gln1610Pro) c.3504A>C c.4955A>C (p.Gln1652Pro) c.4934A>C (p.Gln1645Pro) c.4841A>C (p.Gln1614Pro) c.3395A>C (p.Gln1132Pro) | |
| 8 | g.41933398G>A | CA371064565 | KAT6A | c.4822C>T (p.Gln1608Ter) c.4828C>T (p.Gln1610Ter) c.3503C>T c.4954C>T (p.Gln1652Ter) c.4933C>T (p.Gln1645Ter) c.4840C>T (p.Gln1614Ter) c.3394C>T (p.Gln1132Ter) | gnomAD v4 |
| 8 | g.41933398G>C | CA371064566 | KAT6A | c.4822C>G (p.Gln1608Glu) c.4828C>G (p.Gln1610Glu) c.3503C>G c.4954C>G (p.Gln1652Glu) c.4933C>G (p.Gln1645Glu) c.4840C>G (p.Gln1614Glu) c.3394C>G (p.Gln1132Glu) | |
| 8 | g.41933398G>T | CA371064567 | KAT6A | c.4822C>A (p.Gln1608Lys) c.4828C>A (p.Gln1610Lys) c.3503C>A c.4954C>A (p.Gln1652Lys) c.4933C>A (p.Gln1645Lys) c.4840C>A (p.Gln1614Lys) c.3394C>A (p.Gln1132Lys) | gnomAD v4 |
| 8 | g.41933399C>A | CA371064568 | KAT6A | c.4821G>T (p.Gln1607His) c.4827G>T (p.Gln1609His) c.3502G>T c.4953G>T (p.Gln1651His) c.4932G>T (p.Gln1644His) c.4839G>T (p.Gln1613His) c.3393G>T (p.Gln1131His) | gnomAD v4 |
| 8 | g.41933399C>G | CA371064569 | KAT6A | c.4821G>C (p.Gln1607His) c.4827G>C (p.Gln1609His) c.3502G>C c.4953G>C (p.Gln1651His) c.4932G>C (p.Gln1644His) c.4839G>C (p.Gln1613His) c.3393G>C (p.Gln1131His) | |
| 8 | g.41933399C>T | CA460783705 | KAT6A | c.4821G>A (p.Gln1607=) c.4827G>A (p.Gln1609=) c.3502G>A c.4953G>A (p.Gln1651=) c.4932G>A (p.Gln1644=) c.4839G>A (p.Gln1613=) c.3393G>A (p.Gln1131=) | |
| 8 | g.41933400T>A | CA371064570 | KAT6A | c.4820A>T (p.Gln1607Leu) c.4826A>T (p.Gln1609Leu) c.3501A>T c.4952A>T (p.Gln1651Leu) c.4931A>T (p.Gln1644Leu) c.4838A>T (p.Gln1613Leu) c.3392A>T (p.Gln1131Leu) | |
| 8 | g.41933400T>C | CA371064571 | KAT6A | c.4820A>G (p.Gln1607Arg) c.4826A>G (p.Gln1609Arg) c.3501A>G c.4952A>G (p.Gln1651Arg) c.4931A>G (p.Gln1644Arg) c.4838A>G (p.Gln1613Arg) c.3392A>G (p.Gln1131Arg) | gnomAD v4 |
| 8 | g.41933400T>G | CA371064572 | KAT6A | c.4820A>C (p.Gln1607Pro) c.4826A>C (p.Gln1609Pro) c.3501A>C c.4952A>C (p.Gln1651Pro) c.4931A>C (p.Gln1644Pro) c.4838A>C (p.Gln1613Pro) c.3392A>C (p.Gln1131Pro) | |
| 8 | g.41933401G>A | CA371064573 | KAT6A | c.4819C>T (p.Gln1607Ter) c.4825C>T (p.Gln1609Ter) c.3500C>T c.4951C>T (p.Gln1651Ter) c.4930C>T (p.Gln1644Ter) c.4837C>T (p.Gln1613Ter) c.3391C>T (p.Gln1131Ter) | ClinVar dbSNP |
| 8 | g.41933401G>C | CA371064574 | KAT6A | c.4819C>G (p.Gln1607Glu) c.4825C>G (p.Gln1609Glu) c.3500C>G c.4951C>G (p.Gln1651Glu) c.4930C>G (p.Gln1644Glu) c.4837C>G (p.Gln1613Glu) c.3391C>G (p.Gln1131Glu) | |
| 8 | g.41933401G= | CA1779195914 | KAT6A | c.4819C= (p.Gln1607=) c.4825C= (p.Gln1609=) c.3500C= c.4951C= (p.Gln1651=) c.4930C= (p.Gln1644=) c.4837C= (p.Gln1613=) c.3391C= (p.Gln1131=) | |
| 8 | g.41933401G>T | CA371064575 | KAT6A | c.4819C>A (p.Gln1607Lys) c.4825C>A (p.Gln1609Lys) c.3500C>A c.4951C>A (p.Gln1651Lys) c.4930C>A (p.Gln1644Lys) c.4837C>A (p.Gln1613Lys) c.3391C>A (p.Gln1131Lys) | gnomAD v4 |
| 8 | g.41933402A>C | CA460783712 | KAT6A | c.4818T>G (p.Thr1606=) c.4824T>G (p.Thr1608=) c.3499T>G c.4950T>G (p.Thr1650=) c.4929T>G (p.Thr1643=) c.4836T>G (p.Thr1612=) c.3390T>G (p.Thr1130=) | |
| 8 | g.41933402A>G | CA460783710 | KAT6A | c.4818T>C (p.Thr1606=) c.4824T>C (p.Thr1608=) c.3499T>C c.4950T>C (p.Thr1650=) c.4929T>C (p.Thr1643=) c.4836T>C (p.Thr1612=) c.3390T>C (p.Thr1130=) | |
| 8 | g.41933402A>T | CA460783711 | KAT6A | c.4818T>A (p.Thr1606=) c.4824T>A (p.Thr1608=) c.3499T>A c.4950T>A (p.Thr1650=) c.4929T>A (p.Thr1643=) c.4836T>A (p.Thr1612=) c.3390T>A (p.Thr1130=) | |
| 8 | g.41933403G>A | CA371064578 | KAT6A | c.4817C>T (p.Thr1606Ile) c.4823C>T (p.Thr1608Ile) c.3498C>T c.4949C>T (p.Thr1650Ile) c.4928C>T (p.Thr1643Ile) c.4835C>T (p.Thr1612Ile) c.3389C>T (p.Thr1130Ile) | |
| 8 | g.41933403G>C | CA371064577 | KAT6A | c.4817C>G (p.Thr1606Ser) c.4823C>G (p.Thr1608Ser) c.3498C>G c.4949C>G (p.Thr1650Ser) c.4928C>G (p.Thr1643Ser) c.4835C>G (p.Thr1612Ser) c.3389C>G (p.Thr1130Ser) | dbSNP gnomAD v4 |
| 8 | g.41933403G= | CA1779195915 | KAT6A | c.4817C= (p.Thr1606=) c.4823C= (p.Thr1608=) c.3498C= c.4949C= (p.Thr1650=) c.4928C= (p.Thr1643=) c.4835C= (p.Thr1612=) c.3389C= (p.Thr1130=) | |
| 8 | g.41933403G>T | CA371064576 | KAT6A | c.4817C>A (p.Thr1606Asn) c.4823C>A (p.Thr1608Asn) c.3498C>A c.4949C>A (p.Thr1650Asn) c.4928C>A (p.Thr1643Asn) c.4835C>A (p.Thr1612Asn) c.3389C>A (p.Thr1130Asn) | gnomAD v4 |
| 8 | g.41933404T>A | CA371064579 | KAT6A | c.4816A>T (p.Thr1606Ser) c.4822A>T (p.Thr1608Ser) c.3497A>T c.4948A>T (p.Thr1650Ser) c.4927A>T (p.Thr1643Ser) c.4834A>T (p.Thr1612Ser) c.3388A>T (p.Thr1130Ser) | |
| 8 | g.41933404T>C | CA371064580 | KAT6A | c.4816A>G (p.Thr1606Ala) c.4822A>G (p.Thr1608Ala) c.3497A>G c.4948A>G (p.Thr1650Ala) c.4927A>G (p.Thr1643Ala) c.4834A>G (p.Thr1612Ala) c.3388A>G (p.Thr1130Ala) | |
| 8 | g.41933404T>G | CA371064581 | KAT6A | c.4816A>C (p.Thr1606Pro) c.4822A>C (p.Thr1608Pro) c.3497A>C c.4948A>C (p.Thr1650Pro) c.4927A>C (p.Thr1643Pro) c.4834A>C (p.Thr1612Pro) c.3388A>C (p.Thr1130Pro) | |
| 8 | g.41933405G>A | CA4729420 | KAT6A | c.4815C>T (p.Val1605=) c.4821C>T (p.Val1607=) c.3496C>T c.4947C>T (p.Val1649=) c.4926C>T (p.Val1642=) c.4833C>T (p.Val1611=) c.3387C>T (p.Val1129=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933405G>C | CA460783718 | KAT6A | c.4815C>G (p.Val1605=) c.4821C>G (p.Val1607=) c.3496C>G c.4947C>G (p.Val1649=) c.4926C>G (p.Val1642=) c.4833C>G (p.Val1611=) c.3387C>G (p.Val1129=) | |
| 8 | g.41933405G= | CA1779195916 | KAT6A | c.4815C= (p.Val1605=) c.4821C= (p.Val1607=) c.3496C= c.4947C= (p.Val1649=) c.4926C= (p.Val1642=) c.4833C= (p.Val1611=) c.3387C= (p.Val1129=) | |
| 8 | g.41933405G>T | CA460783717 | KAT6A | c.4815C>A (p.Val1605=) c.4821C>A (p.Val1607=) c.3496C>A c.4947C>A (p.Val1649=) c.4926C>A (p.Val1642=) c.4833C>A (p.Val1611=) c.3387C>A (p.Val1129=) | |
| 8 | g.41933406A>C | CA371064582 | KAT6A | c.4814T>G (p.Val1605Gly) c.4820T>G (p.Val1607Gly) c.3495T>G c.4946T>G (p.Val1649Gly) c.4925T>G (p.Val1642Gly) c.4832T>G (p.Val1611Gly) c.3386T>G (p.Val1129Gly) | |
| 8 | g.41933406A>G | CA371064583 | KAT6A | c.4814T>C (p.Val1605Ala) c.4820T>C (p.Val1607Ala) c.3495T>C c.4946T>C (p.Val1649Ala) c.4925T>C (p.Val1642Ala) c.4832T>C (p.Val1611Ala) c.3386T>C (p.Val1129Ala) | |
| 8 | g.41933406A>T | CA371064584 | KAT6A | c.4814T>A (p.Val1605Asp) c.4820T>A (p.Val1607Asp) c.3495T>A c.4946T>A (p.Val1649Asp) c.4925T>A (p.Val1642Asp) c.4832T>A (p.Val1611Asp) c.3386T>A (p.Val1129Asp) | |
| 8 | g.41933407C>A | CA371064585 | KAT6A | c.4813G>T (p.Val1605Phe) c.4819G>T (p.Val1607Phe) c.3494G>T c.4945G>T (p.Val1649Phe) c.4924G>T (p.Val1642Phe) c.4831G>T (p.Val1611Phe) c.3385G>T (p.Val1129Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933407C= | CA1779195917 | KAT6A | c.4813G= (p.Val1605=) c.4819G= (p.Val1607=) c.3494G= c.4945G= (p.Val1649=) c.4924G= (p.Val1642=) c.4831G= (p.Val1611=) c.3385G= (p.Val1129=) | |
| 8 | g.41933407C>G | CA371064586 | KAT6A | c.4813G>C (p.Val1605Leu) c.4819G>C (p.Val1607Leu) c.3494G>C c.4945G>C (p.Val1649Leu) c.4924G>C (p.Val1642Leu) c.4831G>C (p.Val1611Leu) c.3385G>C (p.Val1129Leu) | |
| 8 | g.41933407C>T | CA371064587 | KAT6A | c.4813G>A (p.Val1605Ile) c.4819G>A (p.Val1607Ile) c.3494G>A c.4945G>A (p.Val1649Ile) c.4924G>A (p.Val1642Ile) c.4831G>A (p.Val1611Ile) c.3385G>A (p.Val1129Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933408C>A | CA460783722 | KAT6A | c.4812G>T (p.Val1604=) c.4818G>T (p.Val1606=) c.3493G>T c.4944G>T (p.Val1648=) c.4923G>T (p.Val1641=) c.4830G>T (p.Val1610=) c.3384G>T (p.Val1128=) | |
| 8 | g.41933408C>G | CA460783723 | KAT6A | c.4812G>C (p.Val1604=) c.4818G>C (p.Val1606=) c.3493G>C c.4944G>C (p.Val1648=) c.4923G>C (p.Val1641=) c.4830G>C (p.Val1610=) c.3384G>C (p.Val1128=) | |
| 8 | g.41933408C>T | CA460783724 | KAT6A | c.4812G>A (p.Val1604=) c.4818G>A (p.Val1606=) c.3493G>A c.4944G>A (p.Val1648=) c.4923G>A (p.Val1641=) c.4830G>A (p.Val1610=) c.3384G>A (p.Val1128=) | |
| 8 | g.41933409A>C | CA371064588 | KAT6A | c.4811T>G (p.Val1604Gly) c.4817T>G (p.Val1606Gly) c.3492T>G c.4943T>G (p.Val1648Gly) c.4922T>G (p.Val1641Gly) c.4829T>G (p.Val1610Gly) c.3383T>G (p.Val1128Gly) | |
| 8 | g.41933409A>G | CA371064589 | KAT6A | c.4811T>C (p.Val1604Ala) c.4817T>C (p.Val1606Ala) c.3492T>C c.4943T>C (p.Val1648Ala) c.4922T>C (p.Val1641Ala) c.4829T>C (p.Val1610Ala) c.3383T>C (p.Val1128Ala) | |
| 8 | g.41933409A>T | CA371064590 | KAT6A | c.4811T>A (p.Val1604Glu) c.4817T>A (p.Val1606Glu) c.3492T>A c.4943T>A (p.Val1648Glu) c.4922T>A (p.Val1641Glu) c.4829T>A (p.Val1610Glu) c.3383T>A (p.Val1128Glu) | |
| 8 | g.41933410C>A | CA371064592 | KAT6A | c.4810G>T (p.Val1604Leu) c.4816G>T (p.Val1606Leu) c.3491G>T c.4942G>T (p.Val1648Leu) c.4921G>T (p.Val1641Leu) c.4828G>T (p.Val1610Leu) c.3382G>T (p.Val1128Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933410C= | CA1779195918 | KAT6A | c.4810G= (p.Val1604=) c.4816G= (p.Val1606=) c.3491G= c.4942G= (p.Val1648=) c.4921G= (p.Val1641=) c.4828G= (p.Val1610=) c.3382G= (p.Val1128=) | |
| 8 | g.41933410C>G | CA371064593 | KAT6A | c.4810G>C (p.Val1604Leu) c.4816G>C (p.Val1606Leu) c.3491G>C c.4942G>C (p.Val1648Leu) c.4921G>C (p.Val1641Leu) c.4828G>C (p.Val1610Leu) c.3382G>C (p.Val1128Leu) | |
| 8 | g.41933410C>T | CA371064591 | KAT6A | c.4810G>A (p.Val1604Met) c.4816G>A (p.Val1606Met) c.3491G>A c.4942G>A (p.Val1648Met) c.4921G>A (p.Val1641Met) c.4828G>A (p.Val1610Met) c.3382G>A (p.Val1128Met) | |
| 8 | g.41933411A>C | CA371064594 | KAT6A | c.4809T>G (p.Cys1603Trp) c.4815T>G (p.Cys1605Trp) c.3490T>G c.4941T>G (p.Cys1647Trp) c.4920T>G (p.Cys1640Trp) c.4827T>G (p.Cys1609Trp) c.3381T>G (p.Cys1127Trp) | |
| 8 | g.41933411A>G | CA460783726 | KAT6A | c.4809T>C (p.Cys1603=) c.4815T>C (p.Cys1605=) c.3490T>C c.4941T>C (p.Cys1647=) c.4920T>C (p.Cys1640=) c.4827T>C (p.Cys1609=) c.3381T>C (p.Cys1127=) | |
| 8 | g.41933411A>T | CA371064595 | KAT6A | c.4809T>A (p.Cys1603Ter) c.4815T>A (p.Cys1605Ter) c.3490T>A c.4941T>A (p.Cys1647Ter) c.4920T>A (p.Cys1640Ter) c.4827T>A (p.Cys1609Ter) c.3381T>A (p.Cys1127Ter) | |
| 8 | g.41933412C>A | CA371064596 | KAT6A | c.4808G>T (p.Cys1603Phe) c.4814G>T (p.Cys1605Phe) c.3489G>T c.4940G>T (p.Cys1647Phe) c.4919G>T (p.Cys1640Phe) c.4826G>T (p.Cys1609Phe) c.3380G>T (p.Cys1127Phe) | |
| 8 | g.41933412C= | CA1779195919 | KAT6A | c.4808G= (p.Cys1603=) c.4814G= (p.Cys1605=) c.3489G= c.4940G= (p.Cys1647=) c.4919G= (p.Cys1640=) c.4826G= (p.Cys1609=) c.3380G= (p.Cys1127=) | |
| 8 | g.41933412C>G | CA371064597 | KAT6A | c.4808G>C (p.Cys1603Ser) c.4814G>C (p.Cys1605Ser) c.3489G>C c.4940G>C (p.Cys1647Ser) c.4919G>C (p.Cys1640Ser) c.4826G>C (p.Cys1609Ser) c.3380G>C (p.Cys1127Ser) | |
| 8 | g.41933412C>T | CA4729421 | KAT6A | c.4808G>A (p.Cys1603Tyr) c.4814G>A (p.Cys1605Tyr) c.3489G>A c.4940G>A (p.Cys1647Tyr) c.4919G>A (p.Cys1640Tyr) c.4826G>A (p.Cys1609Tyr) c.3380G>A (p.Cys1127Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933413A>C | CA371064598 | KAT6A | c.4807T>G (p.Cys1603Gly) c.4813T>G (p.Cys1605Gly) c.3488T>G c.4939T>G (p.Cys1647Gly) c.4918T>G (p.Cys1640Gly) c.4825T>G (p.Cys1609Gly) c.3379T>G (p.Cys1127Gly) | |
| 8 | g.41933413A>G | CA371064599 | KAT6A | c.4807T>C (p.Cys1603Arg) c.4813T>C (p.Cys1605Arg) c.3488T>C c.4939T>C (p.Cys1647Arg) c.4918T>C (p.Cys1640Arg) c.4825T>C (p.Cys1609Arg) c.3379T>C (p.Cys1127Arg) | |
| 8 | g.41933413A>T | CA371064600 | KAT6A | c.4807T>A (p.Cys1603Ser) c.4813T>A (p.Cys1605Ser) c.3488T>A c.4939T>A (p.Cys1647Ser) c.4918T>A (p.Cys1640Ser) c.4825T>A (p.Cys1609Ser) c.3379T>A (p.Cys1127Ser) | |
| 8 | g.41933414G>A | CA460783732 | KAT6A | c.4806C>T (p.Ser1602=) c.4812C>T (p.Ser1604=) c.3487C>T c.4938C>T (p.Ser1646=) c.4917C>T (p.Ser1639=) c.4824C>T (p.Ser1608=) c.3378C>T (p.Ser1126=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.41933414G>C | CA371064601 | KAT6A | c.4806C>G (p.Ser1602Arg) c.4812C>G (p.Ser1604Arg) c.3487C>G c.4938C>G (p.Ser1646Arg) c.4917C>G (p.Ser1639Arg) c.4824C>G (p.Ser1608Arg) c.3378C>G (p.Ser1126Arg) | |
| 8 | g.41933414G= | CA1779195920 | KAT6A | c.4806C= (p.Ser1602=) c.4812C= (p.Ser1604=) c.3487C= c.4938C= (p.Ser1646=) c.4917C= (p.Ser1639=) c.4824C= (p.Ser1608=) c.3378C= (p.Ser1126=) | |
| 8 | g.41933414G>T | CA371064602 | KAT6A | c.4806C>A (p.Ser1602Arg) c.4812C>A (p.Ser1604Arg) c.3487C>A c.4938C>A (p.Ser1646Arg) c.4917C>A (p.Ser1639Arg) c.4824C>A (p.Ser1608Arg) c.3378C>A (p.Ser1126Arg) | |
| 8 | g.41933415C>A | CA371064603 | KAT6A | c.4805G>T (p.Ser1602Ile) c.4811G>T (p.Ser1604Ile) c.3486G>T c.4937G>T (p.Ser1646Ile) c.4916G>T (p.Ser1639Ile) c.4823G>T (p.Ser1608Ile) c.3377G>T (p.Ser1126Ile) | |
| 8 | g.41933415C>G | CA371064604 | KAT6A | c.4805G>C (p.Ser1602Thr) c.4811G>C (p.Ser1604Thr) c.3486G>C c.4937G>C (p.Ser1646Thr) c.4916G>C (p.Ser1639Thr) c.4823G>C (p.Ser1608Thr) c.3377G>C (p.Ser1126Thr) | |
| 8 | g.41933415C>T | CA371064605 | KAT6A | c.4805G>A (p.Ser1602Asn) c.4811G>A (p.Ser1604Asn) c.3486G>A c.4937G>A (p.Ser1646Asn) c.4916G>A (p.Ser1639Asn) c.4823G>A (p.Ser1608Asn) c.3377G>A (p.Ser1126Asn) | |
| 8 | g.41933416T>A | CA371064607 | KAT6A | c.4804A>T (p.Ser1602Cys) c.4810A>T (p.Ser1604Cys) c.3485A>T c.4936A>T (p.Ser1646Cys) c.4915A>T (p.Ser1639Cys) c.4822A>T (p.Ser1608Cys) c.3376A>T (p.Ser1126Cys) | |
| 8 | g.41933416T>C | CA4729422 | KAT6A | c.4804A>G (p.Ser1602Gly) c.4810A>G (p.Ser1604Gly) c.3485A>G c.4936A>G (p.Ser1646Gly) c.4915A>G (p.Ser1639Gly) c.4822A>G (p.Ser1608Gly) c.3376A>G (p.Ser1126Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933416T>G | CA371064606 | KAT6A | c.4804A>C (p.Ser1602Arg) c.4810A>C (p.Ser1604Arg) c.3485A>C c.4936A>C (p.Ser1646Arg) c.4915A>C (p.Ser1639Arg) c.4822A>C (p.Ser1608Arg) c.3376A>C (p.Ser1126Arg) | |
| 8 | g.41933416T= | CA1779195921 | KAT6A | c.4804A= (p.Ser1602=) c.4810A= (p.Ser1604=) c.3485A= c.4936A= (p.Ser1646=) c.4915A= (p.Ser1639=) c.4822A= (p.Ser1608=) c.3376A= (p.Ser1126=) | |
| 8 | g.41933417G>A | CA4729423 | KAT6A | c.4803C>T (p.Ser1601=) c.4809C>T (p.Ser1603=) c.3484C>T c.4935C>T (p.Ser1645=) c.4914C>T (p.Ser1638=) c.4821C>T (p.Ser1607=) c.3375C>T (p.Ser1125=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933417G>C | CA371064608 | KAT6A | c.4803C>G (p.Ser1601Arg) c.4809C>G (p.Ser1603Arg) c.3484C>G c.4935C>G (p.Ser1645Arg) c.4914C>G (p.Ser1638Arg) c.4821C>G (p.Ser1607Arg) c.3375C>G (p.Ser1125Arg) | |
| 8 | g.41933417G= | CA1779195922 | KAT6A | c.4803C= (p.Ser1601=) c.4809C= (p.Ser1603=) c.3484C= c.4935C= (p.Ser1645=) c.4914C= (p.Ser1638=) c.4821C= (p.Ser1607=) c.3375C= (p.Ser1125=) | |
| 8 | g.41933417G>T | CA371064609 | KAT6A | c.4803C>A (p.Ser1601Arg) c.4809C>A (p.Ser1603Arg) c.3484C>A c.4935C>A (p.Ser1645Arg) c.4914C>A (p.Ser1638Arg) c.4821C>A (p.Ser1607Arg) c.3375C>A (p.Ser1125Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933418C>A | CA371064610 | KAT6A | c.4802G>T (p.Ser1601Ile) c.4808G>T (p.Ser1603Ile) c.3483G>T c.4934G>T (p.Ser1645Ile) c.4913G>T (p.Ser1638Ile) c.4820G>T (p.Ser1607Ile) c.3374G>T (p.Ser1125Ile) | |
| 8 | g.41933418C>G | CA371064611 | KAT6A | c.4802G>C (p.Ser1601Thr) c.4808G>C (p.Ser1603Thr) c.3483G>C c.4934G>C (p.Ser1645Thr) c.4913G>C (p.Ser1638Thr) c.4820G>C (p.Ser1607Thr) c.3374G>C (p.Ser1125Thr) | |
| 8 | g.41933418C>T | CA371064612 | KAT6A | c.4802G>A (p.Ser1601Asn) c.4808G>A (p.Ser1603Asn) c.3483G>A c.4934G>A (p.Ser1645Asn) c.4913G>A (p.Ser1638Asn) c.4820G>A (p.Ser1607Asn) c.3374G>A (p.Ser1125Asn) | |
| 8 | g.41933419T>A | CA371064613 | KAT6A | c.4801A>T (p.Ser1601Cys) c.4807A>T (p.Ser1603Cys) c.3482A>T c.4933A>T (p.Ser1645Cys) c.4912A>T (p.Ser1638Cys) c.4819A>T (p.Ser1607Cys) c.3373A>T (p.Ser1125Cys) | |
| 8 | g.41933419T>C | CA4729424 | KAT6A | c.4801A>G (p.Ser1601Gly) c.4807A>G (p.Ser1603Gly) c.3482A>G c.4933A>G (p.Ser1645Gly) c.4912A>G (p.Ser1638Gly) c.4819A>G (p.Ser1607Gly) c.3373A>G (p.Ser1125Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933419T>G | CA371064614 | KAT6A | c.4801A>C (p.Ser1601Arg) c.4807A>C (p.Ser1603Arg) c.3482A>C c.4933A>C (p.Ser1645Arg) c.4912A>C (p.Ser1638Arg) c.4819A>C (p.Ser1607Arg) c.3373A>C (p.Ser1125Arg) | |
| 8 | g.41933419T= | CA1779195923 | KAT6A | c.4801A= (p.Ser1601=) c.4807A= (p.Ser1603=) c.3482A= c.4933A= (p.Ser1645=) c.4912A= (p.Ser1638=) c.4819A= (p.Ser1607=) c.3373A= (p.Ser1125=) | |
| 8 | g.41933420C>A | CA371064615 | KAT6A | c.4800G>T (p.Gln1600His) c.4806G>T (p.Gln1602His) c.3481G>T c.4932G>T (p.Gln1644His) c.4911G>T (p.Gln1637His) c.4818G>T (p.Gln1606His) c.3372G>T (p.Gln1124His) | gnomAD v4 |
| 8 | g.41933420C>G | CA371064616 | KAT6A | c.4800G>C (p.Gln1600His) c.4806G>C (p.Gln1602His) c.3481G>C c.4932G>C (p.Gln1644His) c.4911G>C (p.Gln1637His) c.4818G>C (p.Gln1606His) c.3372G>C (p.Gln1124His) | |
| 8 | g.41933420C>T | CA460783739 | KAT6A | c.4800G>A (p.Gln1600=) c.4806G>A (p.Gln1602=) c.3481G>A c.4932G>A (p.Gln1644=) c.4911G>A (p.Gln1637=) c.4818G>A (p.Gln1606=) c.3372G>A (p.Gln1124=) | |
| 8 | g.41933421T>A | CA371064617 | KAT6A | c.4799A>T (p.Gln1600Leu) c.4805A>T (p.Gln1602Leu) c.3480A>T c.4931A>T (p.Gln1644Leu) c.4910A>T (p.Gln1637Leu) c.4817A>T (p.Gln1606Leu) c.3371A>T (p.Gln1124Leu) | |
| 8 | g.41933421T>C | CA371064618 | KAT6A | c.4799A>G (p.Gln1600Arg) c.4805A>G (p.Gln1602Arg) c.3480A>G c.4931A>G (p.Gln1644Arg) c.4910A>G (p.Gln1637Arg) c.4817A>G (p.Gln1606Arg) c.3371A>G (p.Gln1124Arg) | gnomAD v4 |
| 8 | g.41933421T>G | CA371064619 | KAT6A | c.4799A>C (p.Gln1600Pro) c.4805A>C (p.Gln1602Pro) c.3480A>C c.4931A>C (p.Gln1644Pro) c.4910A>C (p.Gln1637Pro) c.4817A>C (p.Gln1606Pro) c.3371A>C (p.Gln1124Pro) | |
| 8 | g.41933422G>A | CA371064621 | KAT6A | c.4798C>T (p.Gln1600Ter) c.4804C>T (p.Gln1602Ter) c.3479C>T c.4930C>T (p.Gln1644Ter) c.4909C>T (p.Gln1637Ter) c.4816C>T (p.Gln1606Ter) c.3370C>T (p.Gln1124Ter) | |
| 8 | g.41933422G>C | CA4729425 | KAT6A | c.4798C>G (p.Gln1600Glu) c.4804C>G (p.Gln1602Glu) c.3479C>G c.4930C>G (p.Gln1644Glu) c.4909C>G (p.Gln1637Glu) c.4816C>G (p.Gln1606Glu) c.3370C>G (p.Gln1124Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933422G= | CA1779195924 | KAT6A | c.4798C= (p.Gln1600=) c.4804C= (p.Gln1602=) c.3479C= c.4930C= (p.Gln1644=) c.4909C= (p.Gln1637=) c.4816C= (p.Gln1606=) c.3370C= (p.Gln1124=) | |
| 8 | g.41933422G>T | CA371064620 | KAT6A | c.4798C>A (p.Gln1600Lys) c.4804C>A (p.Gln1602Lys) c.3479C>A c.4930C>A (p.Gln1644Lys) c.4909C>A (p.Gln1637Lys) c.4816C>A (p.Gln1606Lys) c.3370C>A (p.Gln1124Lys) | |
| 8 | g.41933423G>A | CA460783746 | KAT6A | c.4797C>T (p.Thr1599=) c.4803C>T (p.Thr1601=) c.3478C>T c.4929C>T (p.Thr1643=) c.4908C>T (p.Thr1636=) c.4815C>T (p.Thr1605=) c.3369C>T (p.Thr1123=) | gnomAD v4 |
| 8 | g.41933423G>C | CA460783748 | KAT6A | c.4797C>G (p.Thr1599=) c.4803C>G (p.Thr1601=) c.3478C>G c.4929C>G (p.Thr1643=) c.4908C>G (p.Thr1636=) c.4815C>G (p.Thr1605=) c.3369C>G (p.Thr1123=) | |
| 8 | g.41933423G>T | CA460783747 | KAT6A | c.4797C>A (p.Thr1599=) c.4803C>A (p.Thr1601=) c.3478C>A c.4929C>A (p.Thr1643=) c.4908C>A (p.Thr1636=) c.4815C>A (p.Thr1605=) c.3369C>A (p.Thr1123=) | |
| 8 | g.41933424G>A | CA371064622 | KAT6A | c.4796C>T (p.Thr1599Ile) c.4802C>T (p.Thr1601Ile) c.3477C>T c.4928C>T (p.Thr1643Ile) c.4907C>T (p.Thr1636Ile) c.4814C>T (p.Thr1605Ile) c.3368C>T (p.Thr1123Ile) | |
| 8 | g.41933424G>C | CA371064623 | KAT6A | c.4796C>G (p.Thr1599Ser) c.4802C>G (p.Thr1601Ser) c.3477C>G c.4928C>G (p.Thr1643Ser) c.4907C>G (p.Thr1636Ser) c.4814C>G (p.Thr1605Ser) c.3368C>G (p.Thr1123Ser) | |
| 8 | g.41933424G>T | CA371064624 | KAT6A | c.4796C>A (p.Thr1599Asn) c.4802C>A (p.Thr1601Asn) c.3477C>A c.4928C>A (p.Thr1643Asn) c.4907C>A (p.Thr1636Asn) c.4814C>A (p.Thr1605Asn) c.3368C>A (p.Thr1123Asn) | gnomAD v4 |
| 8 | g.41933424_41933430delinsGTGAGGC | CA1779195925 | KAT6A | c.4790_4796delinsGCCTCAC (p.Ser1597=) c.4796_4802delinsGCCTCAC (p.Ser1599=) c.3471_3477delinsGCCTCAC c.4922_4928delinsGCCTCAC (p.Ser1641=) c.4901_4907delinsGCCTCAC (p.Ser1634=) c.4808_4814delinsGCCTCAC (p.Ser1603=) c.3362_3368delinsGCCTCAC (p.Ser1121=) | |
| 8 | g.41933425T>A | CA4729427 | KAT6A | c.4795A>T (p.Thr1599Ser) c.4801A>T (p.Thr1601Ser) c.3476A>T c.4927A>T (p.Thr1643Ser) c.4906A>T (p.Thr1636Ser) c.4813A>T (p.Thr1605Ser) c.3367A>T (p.Thr1123Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933425T>C | CA371064625 | KAT6A | c.4795A>G (p.Thr1599Ala) c.4801A>G (p.Thr1601Ala) c.3476A>G c.4927A>G (p.Thr1643Ala) c.4906A>G (p.Thr1636Ala) c.4813A>G (p.Thr1605Ala) c.3367A>G (p.Thr1123Ala) | |
| 8 | g.41933425T>G | CA371064626 | KAT6A | c.4795A>C (p.Thr1599Pro) c.4801A>C (p.Thr1601Pro) c.3476A>C c.4927A>C (p.Thr1643Pro) c.4906A>C (p.Thr1636Pro) c.4813A>C (p.Thr1605Pro) c.3367A>C (p.Thr1123Pro) | |
| 8 | g.41933425T= | CA1779195926 | KAT6A | c.4795A= (p.Thr1599=) c.4801A= (p.Thr1601=) c.3476A= c.4927A= (p.Thr1643=) c.4906A= (p.Thr1636=) c.4813A= (p.Thr1605=) c.3367A= (p.Thr1123=) | |
| 8 | g.41933427_41933432del | CA4729426 | KAT6A | c.4790_4795del (p.Ser1597_Leu1598del) c.4796_4801del (p.Ser1599_Leu1600del) c.3471_3476del c.4922_4927del (p.Ser1641_Leu1642del) c.4901_4906del (p.Ser1634_Leu1635del) c.4808_4813del (p.Ser1603_Leu1604del) c.3362_3367del (p.Ser1121_Leu1122del) | dbSNP ExAC gnomAD v4 |
| 8 | g.41933426G>A | CA460783756 | KAT6A | c.4794C>T (p.Leu1598=) c.4800C>T (p.Leu1600=) c.3475C>T c.4926C>T (p.Leu1642=) c.4905C>T (p.Leu1635=) c.4812C>T (p.Leu1604=) c.3366C>T (p.Leu1122=) | gnomAD v4 |
| 8 | g.41933426G>C | CA460783754 | KAT6A | c.4794C>G (p.Leu1598=) c.4800C>G (p.Leu1600=) c.3475C>G c.4926C>G (p.Leu1642=) c.4905C>G (p.Leu1635=) c.4812C>G (p.Leu1604=) c.3366C>G (p.Leu1122=) | |
| 8 | g.41933426G>T | CA460783755 | KAT6A | c.4794C>A (p.Leu1598=) c.4800C>A (p.Leu1600=) c.3475C>A c.4926C>A (p.Leu1642=) c.4905C>A (p.Leu1635=) c.4812C>A (p.Leu1604=) c.3366C>A (p.Leu1122=) | |
| 8 | g.41933427A>C | CA371064629 | KAT6A | c.4793T>G (p.Leu1598Arg) c.4799T>G (p.Leu1600Arg) c.3474T>G c.4925T>G (p.Leu1642Arg) c.4904T>G (p.Leu1635Arg) c.4811T>G (p.Leu1604Arg) c.3365T>G (p.Leu1122Arg) | gnomAD v4 |
| 8 | g.41933427A>G | CA371064627 | KAT6A | c.4793T>C (p.Leu1598Pro) c.4799T>C (p.Leu1600Pro) c.3474T>C c.4925T>C (p.Leu1642Pro) c.4904T>C (p.Leu1635Pro) c.4811T>C (p.Leu1604Pro) c.3365T>C (p.Leu1122Pro) | gnomAD v4 |
| 8 | g.41933427A>T | CA371064628 | KAT6A | c.4793T>A (p.Leu1598His) c.4799T>A (p.Leu1600His) c.3474T>A c.4925T>A (p.Leu1642His) c.4904T>A (p.Leu1635His) c.4811T>A (p.Leu1604His) c.3365T>A (p.Leu1122His) | |
| 8 | g.41933428G>A | CA371064630 | KAT6A | c.4792C>T (p.Leu1598Phe) c.4798C>T (p.Leu1600Phe) c.3473C>T c.4924C>T (p.Leu1642Phe) c.4903C>T (p.Leu1635Phe) c.4810C>T (p.Leu1604Phe) c.3364C>T (p.Leu1122Phe) | |
| 8 | g.41933428G>C | CA371064631 | KAT6A | c.4792C>G (p.Leu1598Val) c.4798C>G (p.Leu1600Val) c.3473C>G c.4924C>G (p.Leu1642Val) c.4903C>G (p.Leu1635Val) c.4810C>G (p.Leu1604Val) c.3364C>G (p.Leu1122Val) | |
| 8 | g.41933428G= | CA1779195927 | KAT6A | c.4792C= (p.Leu1598=) c.4798C= (p.Leu1600=) c.3473C= c.4924C= (p.Leu1642=) c.4903C= (p.Leu1635=) c.4810C= (p.Leu1604=) c.3364C= (p.Leu1122=) | |
| 8 | g.41933428G>T | CA371064632 | KAT6A | c.4792C>A (p.Leu1598Ile) c.4798C>A (p.Leu1600Ile) c.3473C>A c.4924C>A (p.Leu1642Ile) c.4903C>A (p.Leu1635Ile) c.4810C>A (p.Leu1604Ile) c.3364C>A (p.Leu1122Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933429G>A | CA460783761 | KAT6A | c.4791C>T (p.Ser1597=) c.4797C>T (p.Ser1599=) c.3472C>T c.4923C>T (p.Ser1641=) c.4902C>T (p.Ser1634=) c.4809C>T (p.Ser1603=) c.3363C>T (p.Ser1121=) | |
| 8 | g.41933429G>C | CA371064633 | KAT6A | c.4791C>G (p.Ser1597Arg) c.4797C>G (p.Ser1599Arg) c.3472C>G c.4923C>G (p.Ser1641Arg) c.4902C>G (p.Ser1634Arg) c.4809C>G (p.Ser1603Arg) c.3363C>G (p.Ser1121Arg) | |
| 8 | g.41933429G>T | CA371064634 | KAT6A | c.4791C>A (p.Ser1597Arg) c.4797C>A (p.Ser1599Arg) c.3472C>A c.4923C>A (p.Ser1641Arg) c.4902C>A (p.Ser1634Arg) c.4809C>A (p.Ser1603Arg) c.3363C>A (p.Ser1121Arg) | |
| 8 | g.41933430C>A | CA371064635 | KAT6A | c.4790G>T (p.Ser1597Ile) c.4796G>T (p.Ser1599Ile) c.3471G>T c.4922G>T (p.Ser1641Ile) c.4901G>T (p.Ser1634Ile) c.4808G>T (p.Ser1603Ile) c.3362G>T (p.Ser1121Ile) | |
| 8 | g.41933430C>G | CA371064637 | KAT6A | c.4790G>C (p.Ser1597Thr) c.4796G>C (p.Ser1599Thr) c.3471G>C c.4922G>C (p.Ser1641Thr) c.4901G>C (p.Ser1634Thr) c.4808G>C (p.Ser1603Thr) c.3362G>C (p.Ser1121Thr) | gnomAD v4 |
| 8 | g.41933430C>T | CA371064636 | KAT6A | c.4790G>A (p.Ser1597Asn) c.4796G>A (p.Ser1599Asn) c.3471G>A c.4922G>A (p.Ser1641Asn) c.4901G>A (p.Ser1634Asn) c.4808G>A (p.Ser1603Asn) c.3362G>A (p.Ser1121Asn) | COSMIC |
| 8 | g.41933431T>A | CA4729428 | KAT6A | c.4789A>T (p.Ser1597Cys) c.4795A>T (p.Ser1599Cys) c.3470A>T c.4921A>T (p.Ser1641Cys) c.4900A>T (p.Ser1634Cys) c.4807A>T (p.Ser1603Cys) c.3361A>T (p.Ser1121Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933431T>C | CA371064638 | KAT6A | c.4789A>G (p.Ser1597Gly) c.4795A>G (p.Ser1599Gly) c.3470A>G c.4921A>G (p.Ser1641Gly) c.4900A>G (p.Ser1634Gly) c.4807A>G (p.Ser1603Gly) c.3361A>G (p.Ser1121Gly) | |
| 8 | g.41933431T>G | CA371064639 | KAT6A | c.4789A>C (p.Ser1597Arg) c.4795A>C (p.Ser1599Arg) c.3470A>C c.4921A>C (p.Ser1641Arg) c.4900A>C (p.Ser1634Arg) c.4807A>C (p.Ser1603Arg) c.3361A>C (p.Ser1121Arg) | |
| 8 | g.41933431T= | CA1779195928 | KAT6A | c.4789A= (p.Ser1597=) c.4795A= (p.Ser1599=) c.3470A= c.4921A= (p.Ser1641=) c.4900A= (p.Ser1634=) c.4807A= (p.Ser1603=) c.3361A= (p.Ser1121=) | |
| 8 | g.41933432G>A | CA460783763 | KAT6A | c.4788C>T (p.Ser1596=) c.4794C>T (p.Ser1598=) c.3469C>T c.4920C>T (p.Ser1640=) c.4899C>T (p.Ser1633=) c.4806C>T (p.Ser1602=) c.3360C>T (p.Ser1120=) | dbSNP gnomAD v4 |
| 8 | g.41933432G>C | CA371064640 | KAT6A | c.4788C>G (p.Ser1596Arg) c.4794C>G (p.Ser1598Arg) c.3469C>G c.4920C>G (p.Ser1640Arg) c.4899C>G (p.Ser1633Arg) c.4806C>G (p.Ser1602Arg) c.3360C>G (p.Ser1120Arg) | |
| 8 | g.41933432G= | CA1779195929 | KAT6A | c.4788C= (p.Ser1596=) c.4794C= (p.Ser1598=) c.3469C= c.4920C= (p.Ser1640=) c.4899C= (p.Ser1633=) c.4806C= (p.Ser1602=) c.3360C= (p.Ser1120=) | |
| 8 | g.41933432G>T | CA371064641 | KAT6A | c.4788C>A (p.Ser1596Arg) c.4794C>A (p.Ser1598Arg) c.3469C>A c.4920C>A (p.Ser1640Arg) c.4899C>A (p.Ser1633Arg) c.4806C>A (p.Ser1602Arg) c.3360C>A (p.Ser1120Arg) | gnomAD v4 |
| 8 | g.41933433C>A | CA371064642 | KAT6A | c.4787G>T (p.Ser1596Ile) c.4793G>T (p.Ser1598Ile) c.3468G>T c.4919G>T (p.Ser1640Ile) c.4898G>T (p.Ser1633Ile) c.4805G>T (p.Ser1602Ile) c.3359G>T (p.Ser1120Ile) | |
| 8 | g.41933433C= | CA1779195930 | KAT6A | c.4787G= (p.Ser1596=) c.4793G= (p.Ser1598=) c.3468G= c.4919G= (p.Ser1640=) c.4898G= (p.Ser1633=) c.4805G= (p.Ser1602=) c.3359G= (p.Ser1120=) | |
| 8 | g.41933433C>G | CA371064643 | KAT6A | c.4787G>C (p.Ser1596Thr) c.4793G>C (p.Ser1598Thr) c.3468G>C c.4919G>C (p.Ser1640Thr) c.4898G>C (p.Ser1633Thr) c.4805G>C (p.Ser1602Thr) c.3359G>C (p.Ser1120Thr) | dbSNP |
| 8 | g.41933433C>T | CA371064644 | KAT6A | c.4787G>A (p.Ser1596Asn) c.4793G>A (p.Ser1598Asn) c.3468G>A c.4919G>A (p.Ser1640Asn) c.4898G>A (p.Ser1633Asn) c.4805G>A (p.Ser1602Asn) c.3359G>A (p.Ser1120Asn) | |
| 8 | g.41933434T>A | CA371064645 | KAT6A | c.4786A>T (p.Ser1596Cys) c.4792A>T (p.Ser1598Cys) c.3467A>T c.4918A>T (p.Ser1640Cys) c.4897A>T (p.Ser1633Cys) c.4804A>T (p.Ser1602Cys) c.3358A>T (p.Ser1120Cys) | |
| 8 | g.41933434T>C | CA371064646 | KAT6A | c.4786A>G (p.Ser1596Gly) c.4792A>G (p.Ser1598Gly) c.3467A>G c.4918A>G (p.Ser1640Gly) c.4897A>G (p.Ser1633Gly) c.4804A>G (p.Ser1602Gly) c.3358A>G (p.Ser1120Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933434T>G | CA371064647 | KAT6A | c.4786A>C (p.Ser1596Arg) c.4792A>C (p.Ser1598Arg) c.3467A>C c.4918A>C (p.Ser1640Arg) c.4897A>C (p.Ser1633Arg) c.4804A>C (p.Ser1602Arg) c.3358A>C (p.Ser1120Arg) | |
| 8 | g.41933434T= | CA1779195931 | KAT6A | c.4786A= (p.Ser1596=) c.4792A= (p.Ser1598=) c.3467A= c.4918A= (p.Ser1640=) c.4897A= (p.Ser1633=) c.4804A= (p.Ser1602=) c.3358A= (p.Ser1120=) | |
| 8 | g.41933435G>A | CA460783768 | KAT6A | c.4785C>T (p.Ser1595=) c.4791C>T (p.Ser1597=) c.3466C>T c.4917C>T (p.Ser1639=) c.4896C>T (p.Ser1632=) c.4803C>T (p.Ser1601=) c.3357C>T (p.Ser1119=) | |
| 8 | g.41933435G>C | CA460783769 | KAT6A | c.4785C>G (p.Ser1595=) c.4791C>G (p.Ser1597=) c.3466C>G c.4917C>G (p.Ser1639=) c.4896C>G (p.Ser1632=) c.4803C>G (p.Ser1601=) c.3357C>G (p.Ser1119=) | |
| 8 | g.41933435G>T | CA460783770 | KAT6A | c.4785C>A (p.Ser1595=) c.4791C>A (p.Ser1597=) c.3466C>A c.4917C>A (p.Ser1639=) c.4896C>A (p.Ser1632=) c.4803C>A (p.Ser1601=) c.3357C>A (p.Ser1119=) | |
| 8 | g.41933436G>A | CA371064648 | KAT6A | c.4784C>T (p.Ser1595Phe) c.4790C>T (p.Ser1597Phe) c.3465C>T c.4916C>T (p.Ser1639Phe) c.4895C>T (p.Ser1632Phe) c.4802C>T (p.Ser1601Phe) c.3356C>T (p.Ser1119Phe) | |
| 8 | g.41933436G>C | CA371064650 | KAT6A | c.4784C>G (p.Ser1595Cys) c.4790C>G (p.Ser1597Cys) c.3465C>G c.4916C>G (p.Ser1639Cys) c.4895C>G (p.Ser1632Cys) c.4802C>G (p.Ser1601Cys) c.3356C>G (p.Ser1119Cys) | |
| 8 | g.41933436G>T | CA371064649 | KAT6A | c.4784C>A (p.Ser1595Tyr) c.4790C>A (p.Ser1597Tyr) c.3465C>A c.4916C>A (p.Ser1639Tyr) c.4895C>A (p.Ser1632Tyr) c.4802C>A (p.Ser1601Tyr) c.3356C>A (p.Ser1119Tyr) | |
| 8 | g.41933437A= | CA1779195932 | KAT6A | c.4783T= (p.Ser1595=) c.4789T= (p.Ser1597=) c.3464T= c.4915T= (p.Ser1639=) c.4894T= (p.Ser1632=) c.4801T= (p.Ser1601=) c.3355T= (p.Ser1119=) | |
| 8 | g.41933437A>C | CA371064651 | KAT6A | c.4783T>G (p.Ser1595Ala) c.4789T>G (p.Ser1597Ala) c.3464T>G c.4915T>G (p.Ser1639Ala) c.4894T>G (p.Ser1632Ala) c.4801T>G (p.Ser1601Ala) c.3355T>G (p.Ser1119Ala) | |
| 8 | g.41933437A>G | CA371064653 | KAT6A | c.4783T>C (p.Ser1595Pro) c.4789T>C (p.Ser1597Pro) c.3464T>C c.4915T>C (p.Ser1639Pro) c.4894T>C (p.Ser1632Pro) c.4801T>C (p.Ser1601Pro) c.3355T>C (p.Ser1119Pro) | dbSNP |
| 8 | g.41933437A>T | CA371064652 | KAT6A | c.4783T>A (p.Ser1595Thr) c.4789T>A (p.Ser1597Thr) c.3464T>A c.4915T>A (p.Ser1639Thr) c.4894T>A (p.Ser1632Thr) c.4801T>A (p.Ser1601Thr) c.3355T>A (p.Ser1119Thr) | |
| 8 | g.41933438G>A | CA460783772 | KAT6A | c.4782C>T (p.Ser1594=) c.4788C>T (p.Ser1596=) c.3463C>T c.4914C>T (p.Ser1638=) c.4893C>T (p.Ser1631=) c.4800C>T (p.Ser1600=) c.3354C>T (p.Ser1118=) | gnomAD v4 |
| 8 | g.41933438G>C | CA460783773 | KAT6A | c.4782C>G (p.Ser1594=) c.4788C>G (p.Ser1596=) c.3463C>G c.4914C>G (p.Ser1638=) c.4893C>G (p.Ser1631=) c.4800C>G (p.Ser1600=) c.3354C>G (p.Ser1118=) | |
| 8 | g.41933438G>T | CA460783774 | KAT6A | c.4782C>A (p.Ser1594=) c.4788C>A (p.Ser1596=) c.3463C>A c.4914C>A (p.Ser1638=) c.4893C>A (p.Ser1631=) c.4800C>A (p.Ser1600=) c.3354C>A (p.Ser1118=) | |
| 8 | g.41933438_41933441delinsGGAC | CA1779195933 | KAT6A | c.4779_4782delinsGTCC (p.Ser1593=) c.4785_4788delinsGTCC (p.Ser1595=) c.3460_3463delinsGTCC c.4911_4914delinsGTCC (p.Ser1637=) c.4890_4893delinsGTCC (p.Ser1630=) c.4797_4800delinsGTCC (p.Ser1599=) c.3351_3354delinsGTCC (p.Ser1117=) | |
| 8 | g.41933439G>A | CA371064654 | KAT6A | c.4781C>T (p.Ser1594Phe) c.4787C>T (p.Ser1596Phe) c.3462C>T c.4913C>T (p.Ser1638Phe) c.4892C>T (p.Ser1631Phe) c.4799C>T (p.Ser1600Phe) c.3353C>T (p.Ser1118Phe) | |
| 8 | g.41933439G>C | CA371064655 | KAT6A | c.4781C>G (p.Ser1594Cys) c.4787C>G (p.Ser1596Cys) c.3462C>G c.4913C>G (p.Ser1638Cys) c.4892C>G (p.Ser1631Cys) c.4799C>G (p.Ser1600Cys) c.3353C>G (p.Ser1118Cys) | |
| 8 | g.41933439G>T | CA371064656 | KAT6A | c.4781C>A (p.Ser1594Tyr) c.4787C>A (p.Ser1596Tyr) c.3462C>A c.4913C>A (p.Ser1638Tyr) c.4892C>A (p.Ser1631Tyr) c.4799C>A (p.Ser1600Tyr) c.3353C>A (p.Ser1118Tyr) | |
| 8 | g.41933442_41933444del | CA4729429 | KAT6A | c.4779_4781del (p.Ser1594del) c.4785_4787del (p.Ser1596del) c.3460_3462del c.4911_4913del (p.Ser1638del) c.4890_4892del (p.Ser1631del) c.4797_4799del (p.Ser1600del) c.3351_3353del (p.Ser1118del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933440A= | CA1779195934 | KAT6A | c.4780T= (p.Ser1594=) c.4786T= (p.Ser1596=) c.3461T= c.4912T= (p.Ser1638=) c.4891T= (p.Ser1631=) c.4798T= (p.Ser1600=) c.3352T= (p.Ser1118=) | |
| 8 | g.41933440A>C | CA371064657 | KAT6A | c.4780T>G (p.Ser1594Ala) c.4786T>G (p.Ser1596Ala) c.3461T>G c.4912T>G (p.Ser1638Ala) c.4891T>G (p.Ser1631Ala) c.4798T>G (p.Ser1600Ala) c.3352T>G (p.Ser1118Ala) | |
| 8 | g.41933440A>G | CA371064658 | KAT6A | c.4780T>C (p.Ser1594Pro) c.4786T>C (p.Ser1596Pro) c.3461T>C c.4912T>C (p.Ser1638Pro) c.4891T>C (p.Ser1631Pro) c.4798T>C (p.Ser1600Pro) c.3352T>C (p.Ser1118Pro) | dbSNP |
| 8 | g.41933440A>T | CA371064659 | KAT6A | c.4780T>A (p.Ser1594Thr) c.4786T>A (p.Ser1596Thr) c.3461T>A c.4912T>A (p.Ser1638Thr) c.4891T>A (p.Ser1631Thr) c.4798T>A (p.Ser1600Thr) c.3352T>A (p.Ser1118Thr) |