| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41933534G>A | CA460783209 | KAT6A | c.4686C>T (p.Asn1562=) c.4692C>T (p.Asn1564=) c.3367C>T c.4818C>T (p.Asn1606=) c.4797C>T (p.Asn1599=) c.4704C>T (p.Asn1568=) c.3258C>T (p.Asn1086=) | gnomAD v4 |
| 8 | g.41933534G>C | CA371064982 | KAT6A | c.4686C>G (p.Asn1562Lys) c.4692C>G (p.Asn1564Lys) c.3367C>G c.4818C>G (p.Asn1606Lys) c.4797C>G (p.Asn1599Lys) c.4704C>G (p.Asn1568Lys) c.3258C>G (p.Asn1086Lys) | |
| 8 | g.41933534G>T | CA371064985 | KAT6A | c.4686C>A (p.Asn1562Lys) c.4692C>A (p.Asn1564Lys) c.3367C>A c.4818C>A (p.Asn1606Lys) c.4797C>A (p.Asn1599Lys) c.4704C>A (p.Asn1568Lys) c.3258C>A (p.Asn1086Lys) | |
| 8 | g.41933535T>A | CA371064990 | KAT6A | c.4685A>T (p.Asn1562Ile) c.4691A>T (p.Asn1564Ile) c.3366A>T c.4817A>T (p.Asn1606Ile) c.4796A>T (p.Asn1599Ile) c.4703A>T (p.Asn1568Ile) c.3257A>T (p.Asn1086Ile) | |
| 8 | g.41933535T>C | CA371064991 | KAT6A | c.4685A>G (p.Asn1562Ser) c.4691A>G (p.Asn1564Ser) c.3366A>G c.4817A>G (p.Asn1606Ser) c.4796A>G (p.Asn1599Ser) c.4703A>G (p.Asn1568Ser) c.3257A>G (p.Asn1086Ser) | |
| 8 | g.41933535T>G | CA371064988 | KAT6A | c.4685A>C (p.Asn1562Thr) c.4691A>C (p.Asn1564Thr) c.3366A>C c.4817A>C (p.Asn1606Thr) c.4796A>C (p.Asn1599Thr) c.4703A>C (p.Asn1568Thr) c.3257A>C (p.Asn1086Thr) | |
| 8 | g.41933536T>A | CA371064992 | KAT6A | c.4684A>T (p.Asn1562Tyr) c.4690A>T (p.Asn1564Tyr) c.3365A>T c.4816A>T (p.Asn1606Tyr) c.4795A>T (p.Asn1599Tyr) c.4702A>T (p.Asn1568Tyr) c.3256A>T (p.Asn1086Tyr) | |
| 8 | g.41933536T>C | CA371064994 | KAT6A | c.4684A>G (p.Asn1562Asp) c.4690A>G (p.Asn1564Asp) c.3365A>G c.4816A>G (p.Asn1606Asp) c.4795A>G (p.Asn1599Asp) c.4702A>G (p.Asn1568Asp) c.3256A>G (p.Asn1086Asp) | |
| 8 | g.41933536T>G | CA371064996 | KAT6A | c.4684A>C (p.Asn1562His) c.4690A>C (p.Asn1564His) c.3365A>C c.4816A>C (p.Asn1606His) c.4795A>C (p.Asn1599His) c.4702A>C (p.Asn1568His) c.3256A>C (p.Asn1086His) | |
| 8 | g.41933537T>A | CA371064998 | KAT6A | c.4683A>T (p.Glu1561Asp) c.4689A>T (p.Glu1563Asp) c.3364A>T c.4815A>T (p.Glu1605Asp) c.4794A>T (p.Glu1598Asp) c.4701A>T (p.Glu1567Asp) c.3255A>T (p.Glu1085Asp) | |
| 8 | g.41933537T>C | CA460783213 | KAT6A | c.4683A>G (p.Glu1561=) c.4689A>G (p.Glu1563=) c.3364A>G c.4815A>G (p.Glu1605=) c.4794A>G (p.Glu1598=) c.4701A>G (p.Glu1567=) c.3255A>G (p.Glu1085=) | |
| 8 | g.41933537T>G | CA371065000 | KAT6A | c.4683A>C (p.Glu1561Asp) c.4689A>C (p.Glu1563Asp) c.3364A>C c.4815A>C (p.Glu1605Asp) c.4794A>C (p.Glu1598Asp) c.4701A>C (p.Glu1567Asp) c.3255A>C (p.Glu1085Asp) | |
| 8 | g.41933538T>A | CA371065003 | KAT6A | c.4682A>T (p.Glu1561Val) c.4688A>T (p.Glu1563Val) c.3363A>T c.4814A>T (p.Glu1605Val) c.4793A>T (p.Glu1598Val) c.4700A>T (p.Glu1567Val) c.3254A>T (p.Glu1085Val) | |
| 8 | g.41933538T>C | CA371065001 | KAT6A | c.4682A>G (p.Glu1561Gly) c.4688A>G (p.Glu1563Gly) c.3363A>G c.4814A>G (p.Glu1605Gly) c.4793A>G (p.Glu1598Gly) c.4700A>G (p.Glu1567Gly) c.3254A>G (p.Glu1085Gly) | |
| 8 | g.41933538T>G | CA371065002 | KAT6A | c.4682A>C (p.Glu1561Ala) c.4688A>C (p.Glu1563Ala) c.3363A>C c.4814A>C (p.Glu1605Ala) c.4793A>C (p.Glu1598Ala) c.4700A>C (p.Glu1567Ala) c.3254A>C (p.Glu1085Ala) | |
| 8 | g.41933539C>A | CA371065005 | KAT6A | c.4681G>T (p.Glu1561Ter) c.4687G>T (p.Glu1563Ter) c.3362G>T c.4813G>T (p.Glu1605Ter) c.4792G>T (p.Glu1598Ter) c.4699G>T (p.Glu1567Ter) c.3253G>T (p.Glu1085Ter) | |
| 8 | g.41933539C>G | CA371065007 | KAT6A | c.4681G>C (p.Glu1561Gln) c.4687G>C (p.Glu1563Gln) c.3362G>C c.4813G>C (p.Glu1605Gln) c.4792G>C (p.Glu1598Gln) c.4699G>C (p.Glu1567Gln) c.3253G>C (p.Glu1085Gln) | |
| 8 | g.41933539C>T | CA371065008 | KAT6A | c.4681G>A (p.Glu1561Lys) c.4687G>A (p.Glu1563Lys) c.3362G>A c.4813G>A (p.Glu1605Lys) c.4792G>A (p.Glu1598Lys) c.4699G>A (p.Glu1567Lys) c.3253G>A (p.Glu1085Lys) | |
| 8 | g.41933540A= | CA1779195972 | KAT6A | c.4680T= (p.Thr1560=) c.4686T= (p.Thr1562=) c.3361T= c.4812T= (p.Thr1604=) c.4791T= (p.Thr1597=) c.4698T= (p.Thr1566=) c.3252T= (p.Thr1084=) | |
| 8 | g.41933540A>C | CA460783221 | KAT6A | c.4680T>G (p.Thr1560=) c.4686T>G (p.Thr1562=) c.3361T>G c.4812T>G (p.Thr1604=) c.4791T>G (p.Thr1597=) c.4698T>G (p.Thr1566=) c.3252T>G (p.Thr1084=) | dbSNP |
| 8 | g.41933540A>G | CA460783222 | KAT6A | c.4680T>C (p.Thr1560=) c.4686T>C (p.Thr1562=) c.3361T>C c.4812T>C (p.Thr1604=) c.4791T>C (p.Thr1597=) c.4698T>C (p.Thr1566=) c.3252T>C (p.Thr1084=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933540A>T | CA460783223 | KAT6A | c.4680T>A (p.Thr1560=) c.4686T>A (p.Thr1562=) c.3361T>A c.4812T>A (p.Thr1604=) c.4791T>A (p.Thr1597=) c.4698T>A (p.Thr1566=) c.3252T>A (p.Thr1084=) | |
| 8 | g.41933541G>A | CA371065011 | KAT6A | c.4679C>T (p.Thr1560Ile) c.4685C>T (p.Thr1562Ile) c.3360C>T c.4811C>T (p.Thr1604Ile) c.4790C>T (p.Thr1597Ile) c.4697C>T (p.Thr1566Ile) c.3251C>T (p.Thr1084Ile) | |
| 8 | g.41933541G>C | CA371065013 | KAT6A | c.4679C>G (p.Thr1560Ser) c.4685C>G (p.Thr1562Ser) c.3360C>G c.4811C>G (p.Thr1604Ser) c.4790C>G (p.Thr1597Ser) c.4697C>G (p.Thr1566Ser) c.3251C>G (p.Thr1084Ser) | |
| 8 | g.41933541G>T | CA371065014 | KAT6A | c.4679C>A (p.Thr1560Asn) c.4685C>A (p.Thr1562Asn) c.3360C>A c.4811C>A (p.Thr1604Asn) c.4790C>A (p.Thr1597Asn) c.4697C>A (p.Thr1566Asn) c.3251C>A (p.Thr1084Asn) | |
| 8 | g.41933542T>A | CA371065020 | KAT6A | c.4678A>T (p.Thr1560Ser) c.4684A>T (p.Thr1562Ser) c.3359A>T c.4810A>T (p.Thr1604Ser) c.4789A>T (p.Thr1597Ser) c.4696A>T (p.Thr1566Ser) c.3250A>T (p.Thr1084Ser) | |
| 8 | g.41933542T>C | CA4729441 | KAT6A | c.4678A>G (p.Thr1560Ala) c.4684A>G (p.Thr1562Ala) c.3359A>G c.4810A>G (p.Thr1604Ala) c.4789A>G (p.Thr1597Ala) c.4696A>G (p.Thr1566Ala) c.3250A>G (p.Thr1084Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933542T>G | CA371065018 | KAT6A | c.4678A>C (p.Thr1560Pro) c.4684A>C (p.Thr1562Pro) c.3359A>C c.4810A>C (p.Thr1604Pro) c.4789A>C (p.Thr1597Pro) c.4696A>C (p.Thr1566Pro) c.3250A>C (p.Thr1084Pro) | |
| 8 | g.41933542T= | CA1779195973 | KAT6A | c.4678A= (p.Thr1560=) c.4684A= (p.Thr1562=) c.3359A= c.4810A= (p.Thr1604=) c.4789A= (p.Thr1597=) c.4696A= (p.Thr1566=) c.3250A= (p.Thr1084=) | |
| 8 | g.41933543G>A | CA460783227 | KAT6A | c.4677C>T (p.Thr1559=) c.4683C>T (p.Thr1561=) c.3358C>T c.4809C>T (p.Thr1603=) c.4788C>T (p.Thr1596=) c.4695C>T (p.Thr1565=) c.3249C>T (p.Thr1083=) | ClinVar gnomAD v4 |
| 8 | g.41933543G>C | CA460783228 | KAT6A | c.4677C>G (p.Thr1559=) c.4683C>G (p.Thr1561=) c.3358C>G c.4809C>G (p.Thr1603=) c.4788C>G (p.Thr1596=) c.4695C>G (p.Thr1565=) c.3249C>G (p.Thr1083=) | |
| 8 | g.41933543G>T | CA460783230 | KAT6A | c.4677C>A (p.Thr1559=) c.4683C>A (p.Thr1561=) c.3358C>A c.4809C>A (p.Thr1603=) c.4788C>A (p.Thr1596=) c.4695C>A (p.Thr1565=) c.3249C>A (p.Thr1083=) | |
| 8 | g.41933544G>A | CA371065023 | KAT6A | c.4676C>T (p.Thr1559Ile) c.4682C>T (p.Thr1561Ile) c.3357C>T c.4808C>T (p.Thr1603Ile) c.4787C>T (p.Thr1596Ile) c.4694C>T (p.Thr1565Ile) c.3248C>T (p.Thr1083Ile) | gnomAD v4 |
| 8 | g.41933544G>C | CA371065027 | KAT6A | c.4676C>G (p.Thr1559Ser) c.4682C>G (p.Thr1561Ser) c.3357C>G c.4808C>G (p.Thr1603Ser) c.4787C>G (p.Thr1596Ser) c.4694C>G (p.Thr1565Ser) c.3248C>G (p.Thr1083Ser) | |
| 8 | g.41933544G>T | CA371065025 | KAT6A | c.4676C>A (p.Thr1559Asn) c.4682C>A (p.Thr1561Asn) c.3357C>A c.4808C>A (p.Thr1603Asn) c.4787C>A (p.Thr1596Asn) c.4694C>A (p.Thr1565Asn) c.3248C>A (p.Thr1083Asn) | |
| 8 | g.41933545T>A | CA371065030 | KAT6A | c.4675A>T (p.Thr1559Ser) c.4681A>T (p.Thr1561Ser) c.3356A>T c.4807A>T (p.Thr1603Ser) c.4786A>T (p.Thr1596Ser) c.4693A>T (p.Thr1565Ser) c.3247A>T (p.Thr1083Ser) | |
| 8 | g.41933545T>C | CA371065032 | KAT6A | c.4675A>G (p.Thr1559Ala) c.4681A>G (p.Thr1561Ala) c.3356A>G c.4807A>G (p.Thr1603Ala) c.4786A>G (p.Thr1596Ala) c.4693A>G (p.Thr1565Ala) c.3247A>G (p.Thr1083Ala) | |
| 8 | g.41933545T>G | CA371065034 | KAT6A | c.4675A>C (p.Thr1559Pro) c.4681A>C (p.Thr1561Pro) c.3356A>C c.4807A>C (p.Thr1603Pro) c.4786A>C (p.Thr1596Pro) c.4693A>C (p.Thr1565Pro) c.3247A>C (p.Thr1083Pro) | |
| 8 | g.41933546G>A | CA460783238 | KAT6A | c.4674C>T (p.Ser1558=) c.4680C>T (p.Ser1560=) c.3355C>T c.4806C>T (p.Ser1602=) c.4785C>T (p.Ser1595=) c.4692C>T (p.Ser1564=) c.3246C>T (p.Ser1082=) | |
| 8 | g.41933546G>C | CA371065037 | KAT6A | c.4674C>G (p.Ser1558Arg) c.4680C>G (p.Ser1560Arg) c.3355C>G c.4806C>G (p.Ser1602Arg) c.4785C>G (p.Ser1595Arg) c.4692C>G (p.Ser1564Arg) c.3246C>G (p.Ser1082Arg) | |
| 8 | g.41933546G>T | CA371065039 | KAT6A | c.4674C>A (p.Ser1558Arg) c.4680C>A (p.Ser1560Arg) c.3355C>A c.4806C>A (p.Ser1602Arg) c.4785C>A (p.Ser1595Arg) c.4692C>A (p.Ser1564Arg) c.3246C>A (p.Ser1082Arg) | ClinVar |
| 8 | g.41933547C>A | CA371065042 | KAT6A | c.4673G>T (p.Ser1558Ile) c.4679G>T (p.Ser1560Ile) c.3354G>T c.4805G>T (p.Ser1602Ile) c.4784G>T (p.Ser1595Ile) c.4691G>T (p.Ser1564Ile) c.3245G>T (p.Ser1082Ile) | |
| 8 | g.41933547C>G | CA371065043 | KAT6A | c.4673G>C (p.Ser1558Thr) c.4679G>C (p.Ser1560Thr) c.3354G>C c.4805G>C (p.Ser1602Thr) c.4784G>C (p.Ser1595Thr) c.4691G>C (p.Ser1564Thr) c.3245G>C (p.Ser1082Thr) | |
| 8 | g.41933547C>T | CA371065045 | KAT6A | c.4673G>A (p.Ser1558Asn) c.4679G>A (p.Ser1560Asn) c.3354G>A c.4805G>A (p.Ser1602Asn) c.4784G>A (p.Ser1595Asn) c.4691G>A (p.Ser1564Asn) c.3245G>A (p.Ser1082Asn) | ClinVar COSMIC |
| 8 | g.41933548T>A | CA371065047 | KAT6A | c.4672A>T (p.Ser1558Cys) c.4678A>T (p.Ser1560Cys) c.3353A>T c.4804A>T (p.Ser1602Cys) c.4783A>T (p.Ser1595Cys) c.4690A>T (p.Ser1564Cys) c.3244A>T (p.Ser1082Cys) | |
| 8 | g.41933548T>C | CA371065050 | KAT6A | c.4672A>G (p.Ser1558Gly) c.4678A>G (p.Ser1560Gly) c.3353A>G c.4804A>G (p.Ser1602Gly) c.4783A>G (p.Ser1595Gly) c.4690A>G (p.Ser1564Gly) c.3244A>G (p.Ser1082Gly) | |
| 8 | g.41933548T>G | CA371065052 | KAT6A | c.4672A>C (p.Ser1558Arg) c.4678A>C (p.Ser1560Arg) c.3353A>C c.4804A>C (p.Ser1602Arg) c.4783A>C (p.Ser1595Arg) c.4690A>C (p.Ser1564Arg) c.3244A>C (p.Ser1082Arg) | |
| 8 | g.41933549C>A | CA371065057 | KAT6A | c.4671G>T (p.Glu1557Asp) c.4677G>T (p.Glu1559Asp) c.3352G>T c.4803G>T (p.Glu1601Asp) c.4782G>T (p.Glu1594Asp) c.4689G>T (p.Glu1563Asp) c.3243G>T (p.Glu1081Asp) | |
| 8 | g.41933549C= | CA1779195974 | KAT6A | c.4671G= (p.Glu1557=) c.4677G= (p.Glu1559=) c.3352G= c.4803G= (p.Glu1601=) c.4782G= (p.Glu1594=) c.4689G= (p.Glu1563=) c.3243G= (p.Glu1081=) | |
| 8 | g.41933549C>G | CA371065055 | KAT6A | c.4671G>C (p.Glu1557Asp) c.4677G>C (p.Glu1559Asp) c.3352G>C c.4803G>C (p.Glu1601Asp) c.4782G>C (p.Glu1594Asp) c.4689G>C (p.Glu1563Asp) c.3243G>C (p.Glu1081Asp) | |
| 8 | g.41933549C>T | CA4729442 | KAT6A | c.4671G>A (p.Glu1557=) c.4677G>A (p.Glu1559=) c.3352G>A c.4803G>A (p.Glu1601=) c.4782G>A (p.Glu1594=) c.4689G>A (p.Glu1563=) c.3243G>A (p.Glu1081=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933550T>A | CA371065059 | KAT6A | c.4670A>T (p.Glu1557Val) c.4676A>T (p.Glu1559Val) c.3351A>T c.4802A>T (p.Glu1601Val) c.4781A>T (p.Glu1594Val) c.4688A>T (p.Glu1563Val) c.3242A>T (p.Glu1081Val) | |
| 8 | g.41933550T>C | CA371065061 | KAT6A | c.4670A>G (p.Glu1557Gly) c.4676A>G (p.Glu1559Gly) c.3351A>G c.4802A>G (p.Glu1601Gly) c.4781A>G (p.Glu1594Gly) c.4688A>G (p.Glu1563Gly) c.3242A>G (p.Glu1081Gly) | |
| 8 | g.41933550T>G | CA371065063 | KAT6A | c.4670A>C (p.Glu1557Ala) c.4676A>C (p.Glu1559Ala) c.3351A>C c.4802A>C (p.Glu1601Ala) c.4781A>C (p.Glu1594Ala) c.4688A>C (p.Glu1563Ala) c.3242A>C (p.Glu1081Ala) | |
| 8 | g.41933551C>A | CA371065065 | KAT6A | c.4669G>T (p.Glu1557Ter) c.4675G>T (p.Glu1559Ter) c.3350G>T c.4801G>T (p.Glu1601Ter) c.4780G>T (p.Glu1594Ter) c.4687G>T (p.Glu1563Ter) c.3241G>T (p.Glu1081Ter) | |
| 8 | g.41933551C>G | CA371065067 | KAT6A | c.4669G>C (p.Glu1557Gln) c.4675G>C (p.Glu1559Gln) c.3350G>C c.4801G>C (p.Glu1601Gln) c.4780G>C (p.Glu1594Gln) c.4687G>C (p.Glu1563Gln) c.3241G>C (p.Glu1081Gln) | |
| 8 | g.41933551C>T | CA371065069 | KAT6A | c.4669G>A (p.Glu1557Lys) c.4675G>A (p.Glu1559Lys) c.3350G>A c.4801G>A (p.Glu1601Lys) c.4780G>A (p.Glu1594Lys) c.4687G>A (p.Glu1563Lys) c.3241G>A (p.Glu1081Lys) | ClinVar |
| 8 | g.41933552A>C | CA371065071 | KAT6A | c.4668T>G (p.Ile1556Met) c.4674T>G (p.Ile1558Met) c.3349T>G c.4800T>G (p.Ile1600Met) c.4779T>G (p.Ile1593Met) c.4686T>G (p.Ile1562Met) c.3240T>G (p.Ile1080Met) | |
| 8 | g.41933552A>G | CA460783244 | KAT6A | c.4668T>C (p.Ile1556=) c.4674T>C (p.Ile1558=) c.3349T>C c.4800T>C (p.Ile1600=) c.4779T>C (p.Ile1593=) c.4686T>C (p.Ile1562=) c.3240T>C (p.Ile1080=) | |
| 8 | g.41933552A>T | CA460783245 | KAT6A | c.4668T>A (p.Ile1556=) c.4674T>A (p.Ile1558=) c.3349T>A c.4800T>A (p.Ile1600=) c.4779T>A (p.Ile1593=) c.4686T>A (p.Ile1562=) c.3240T>A (p.Ile1080=) | |
| 8 | g.41933553A>C | CA371065074 | KAT6A | c.4667T>G (p.Ile1556Ser) c.4673T>G (p.Ile1558Ser) c.3348T>G c.4799T>G (p.Ile1600Ser) c.4778T>G (p.Ile1593Ser) c.4685T>G (p.Ile1562Ser) c.3239T>G (p.Ile1080Ser) | |
| 8 | g.41933553A>G | CA371065075 | KAT6A | c.4667T>C (p.Ile1556Thr) c.4673T>C (p.Ile1558Thr) c.3348T>C c.4799T>C (p.Ile1600Thr) c.4778T>C (p.Ile1593Thr) c.4685T>C (p.Ile1562Thr) c.3239T>C (p.Ile1080Thr) | ClinVar |
| 8 | g.41933553A>T | CA371065078 | KAT6A | c.4667T>A (p.Ile1556Asn) c.4673T>A (p.Ile1558Asn) c.3348T>A c.4799T>A (p.Ile1600Asn) c.4778T>A (p.Ile1593Asn) c.4685T>A (p.Ile1562Asn) c.3239T>A (p.Ile1080Asn) | |
| 8 | g.41933554T>A | CA371065080 | KAT6A | c.4666A>T (p.Ile1556Phe) c.4672A>T (p.Ile1558Phe) c.3347A>T c.4798A>T (p.Ile1600Phe) c.4777A>T (p.Ile1593Phe) c.4684A>T (p.Ile1562Phe) c.3238A>T (p.Ile1080Phe) | ClinVar dbSNP |
| 8 | g.41933554T>C | CA371065083 | KAT6A | c.4666A>G (p.Ile1556Val) c.4672A>G (p.Ile1558Val) c.3347A>G c.4798A>G (p.Ile1600Val) c.4777A>G (p.Ile1593Val) c.4684A>G (p.Ile1562Val) c.3238A>G (p.Ile1080Val) | |
| 8 | g.41933554T>G | CA371065085 | KAT6A | c.4666A>C (p.Ile1556Leu) c.4672A>C (p.Ile1558Leu) c.3347A>C c.4798A>C (p.Ile1600Leu) c.4777A>C (p.Ile1593Leu) c.4684A>C (p.Ile1562Leu) c.3238A>C (p.Ile1080Leu) | |
| 8 | g.41933554T= | CA1779195975 | KAT6A | c.4666A= (p.Ile1556=) c.4672A= (p.Ile1558=) c.3347A= c.4798A= (p.Ile1600=) c.4777A= (p.Ile1593=) c.4684A= (p.Ile1562=) c.3238A= (p.Ile1080=) | |
| 8 | g.41933555G>A | CA460783249 | KAT6A | c.4665C>T (p.Ser1555=) c.4671C>T (p.Ser1557=) c.3346C>T c.4797C>T (p.Ser1599=) c.4776C>T (p.Ser1592=) c.4683C>T (p.Ser1561=) c.3237C>T (p.Ser1079=) | |
| 8 | g.41933555G>C | CA371065088 | KAT6A | c.4665C>G (p.Ser1555Arg) c.4671C>G (p.Ser1557Arg) c.3346C>G c.4797C>G (p.Ser1599Arg) c.4776C>G (p.Ser1592Arg) c.4683C>G (p.Ser1561Arg) c.3237C>G (p.Ser1079Arg) | |
| 8 | g.41933555G>T | CA371065090 | KAT6A | c.4665C>A (p.Ser1555Arg) c.4671C>A (p.Ser1557Arg) c.3346C>A c.4797C>A (p.Ser1599Arg) c.4776C>A (p.Ser1592Arg) c.4683C>A (p.Ser1561Arg) c.3237C>A (p.Ser1079Arg) | |
| 8 | g.41933556C>A | CA371065091 | KAT6A | c.4664G>T (p.Ser1555Ile) c.4670G>T (p.Ser1557Ile) c.3345G>T c.4796G>T (p.Ser1599Ile) c.4775G>T (p.Ser1592Ile) c.4682G>T (p.Ser1561Ile) c.3236G>T (p.Ser1079Ile) | |
| 8 | g.41933556C= | CA1779195976 | KAT6A | c.4664G= (p.Ser1555=) c.4670G= (p.Ser1557=) c.3345G= c.4796G= (p.Ser1599=) c.4775G= (p.Ser1592=) c.4682G= (p.Ser1561=) c.3236G= (p.Ser1079=) | |
| 8 | g.41933556C>G | CA371065092 | KAT6A | c.4664G>C (p.Ser1555Thr) c.4670G>C (p.Ser1557Thr) c.3345G>C c.4796G>C (p.Ser1599Thr) c.4775G>C (p.Ser1592Thr) c.4682G>C (p.Ser1561Thr) c.3236G>C (p.Ser1079Thr) | |
| 8 | g.41933556C>T | CA371065094 | KAT6A | c.4664G>A (p.Ser1555Asn) c.4670G>A (p.Ser1557Asn) c.3345G>A c.4796G>A (p.Ser1599Asn) c.4775G>A (p.Ser1592Asn) c.4682G>A (p.Ser1561Asn) c.3236G>A (p.Ser1079Asn) | ClinVar dbSNP |
| 8 | g.41933557T>A | CA371065097 | KAT6A | c.4663A>T (p.Ser1555Cys) c.4669A>T (p.Ser1557Cys) c.3344A>T c.4795A>T (p.Ser1599Cys) c.4774A>T (p.Ser1592Cys) c.4681A>T (p.Ser1561Cys) c.3235A>T (p.Ser1079Cys) | |
| 8 | g.41933557T>C | CA371065099 | KAT6A | c.4663A>G (p.Ser1555Gly) c.4669A>G (p.Ser1557Gly) c.3344A>G c.4795A>G (p.Ser1599Gly) c.4774A>G (p.Ser1592Gly) c.4681A>G (p.Ser1561Gly) c.3235A>G (p.Ser1079Gly) | |
| 8 | g.41933557T>G | CA371065101 | KAT6A | c.4663A>C (p.Ser1555Arg) c.4669A>C (p.Ser1557Arg) c.3344A>C c.4795A>C (p.Ser1599Arg) c.4774A>C (p.Ser1592Arg) c.4681A>C (p.Ser1561Arg) c.3235A>C (p.Ser1079Arg) | |
| 8 | g.41933558G>A | CA460783264 | KAT6A | c.4662C>T (p.Gly1554=) c.4668C>T (p.Gly1556=) c.3343C>T c.4794C>T (p.Gly1598=) c.4773C>T (p.Gly1591=) c.4680C>T (p.Gly1560=) c.3234C>T (p.Gly1078=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933558G>C | CA460783266 | KAT6A | c.4662C>G (p.Gly1554=) c.4668C>G (p.Gly1556=) c.3343C>G c.4794C>G (p.Gly1598=) c.4773C>G (p.Gly1591=) c.4680C>G (p.Gly1560=) c.3234C>G (p.Gly1078=) | |
| 8 | g.41933558G= | CA1779195977 | KAT6A | c.4662C= (p.Gly1554=) c.4668C= (p.Gly1556=) c.3343C= c.4794C= (p.Gly1598=) c.4773C= (p.Gly1591=) c.4680C= (p.Gly1560=) c.3234C= (p.Gly1078=) | |
| 8 | g.41933558G>T | CA460783269 | KAT6A | c.4662C>A (p.Gly1554=) c.4668C>A (p.Gly1556=) c.3343C>A c.4794C>A (p.Gly1598=) c.4773C>A (p.Gly1591=) c.4680C>A (p.Gly1560=) c.3234C>A (p.Gly1078=) | |
| 8 | g.41933559C>A | CA371065104 | KAT6A | c.4661G>T (p.Gly1554Val) c.4667G>T (p.Gly1556Val) c.3342G>T c.4793G>T (p.Gly1598Val) c.4772G>T (p.Gly1591Val) c.4679G>T (p.Gly1560Val) c.3233G>T (p.Gly1078Val) | |
| 8 | g.41933559C>G | CA371065106 | KAT6A | c.4661G>C (p.Gly1554Ala) c.4667G>C (p.Gly1556Ala) c.3342G>C c.4793G>C (p.Gly1598Ala) c.4772G>C (p.Gly1591Ala) c.4679G>C (p.Gly1560Ala) c.3233G>C (p.Gly1078Ala) | |
| 8 | g.41933559C>T | CA371065108 | KAT6A | c.4661G>A (p.Gly1554Asp) c.4667G>A (p.Gly1556Asp) c.3342G>A c.4793G>A (p.Gly1598Asp) c.4772G>A (p.Gly1591Asp) c.4679G>A (p.Gly1560Asp) c.3233G>A (p.Gly1078Asp) | |
| 8 | g.41933560C>A | CA371065110 | KAT6A | c.4660G>T (p.Gly1554Cys) c.4666G>T (p.Gly1556Cys) c.3341G>T c.4792G>T (p.Gly1598Cys) c.4771G>T (p.Gly1591Cys) c.4678G>T (p.Gly1560Cys) c.3232G>T (p.Gly1078Cys) | COSMIC |
| 8 | g.41933560C>G | CA371065112 | KAT6A | c.4660G>C (p.Gly1554Arg) c.4666G>C (p.Gly1556Arg) c.3341G>C c.4792G>C (p.Gly1598Arg) c.4771G>C (p.Gly1591Arg) c.4678G>C (p.Gly1560Arg) c.3232G>C (p.Gly1078Arg) | |
| 8 | g.41933560C>T | CA371065114 | KAT6A | c.4660G>A (p.Gly1554Ser) c.4666G>A (p.Gly1556Ser) c.3341G>A c.4792G>A (p.Gly1598Ser) c.4771G>A (p.Gly1591Ser) c.4678G>A (p.Gly1560Ser) c.3232G>A (p.Gly1078Ser) | |
| 8 | g.41933561C>A | CA460783275 | KAT6A | c.4659G>T (p.Leu1553=) c.4665G>T (p.Leu1555=) c.3340G>T c.4791G>T (p.Leu1597=) c.4770G>T (p.Leu1590=) c.4677G>T (p.Leu1559=) c.3231G>T (p.Leu1077=) | |
| 8 | g.41933561C= | CA1779195978 | KAT6A | c.4659G= (p.Leu1553=) c.4665G= (p.Leu1555=) c.3340G= c.4791G= (p.Leu1597=) c.4770G= (p.Leu1590=) c.4677G= (p.Leu1559=) c.3231G= (p.Leu1077=) | |
| 8 | g.41933561C>G | CA460783276 | KAT6A | c.4659G>C (p.Leu1553=) c.4665G>C (p.Leu1555=) c.3340G>C c.4791G>C (p.Leu1597=) c.4770G>C (p.Leu1590=) c.4677G>C (p.Leu1559=) c.3231G>C (p.Leu1077=) | |
| 8 | g.41933561C>T | CA175939197 | KAT6A | c.4659G>A (p.Leu1553=) c.4665G>A (p.Leu1555=) c.3340G>A c.4791G>A (p.Leu1597=) c.4770G>A (p.Leu1590=) c.4677G>A (p.Leu1559=) c.3231G>A (p.Leu1077=) | dbSNP |
| 8 | g.41933562A>C | CA371065120 | KAT6A | c.4658T>G (p.Leu1553Arg) c.4664T>G (p.Leu1555Arg) c.3339T>G c.4790T>G (p.Leu1597Arg) c.4769T>G (p.Leu1590Arg) c.4676T>G (p.Leu1559Arg) c.3230T>G (p.Leu1077Arg) | |
| 8 | g.41933562A>G | CA371065118 | KAT6A | c.4658T>C (p.Leu1553Pro) c.4664T>C (p.Leu1555Pro) c.3339T>C c.4790T>C (p.Leu1597Pro) c.4769T>C (p.Leu1590Pro) c.4676T>C (p.Leu1559Pro) c.3230T>C (p.Leu1077Pro) | ClinVar |
| 8 | g.41933562A>T | CA371065117 | KAT6A | c.4658T>A (p.Leu1553Gln) c.4664T>A (p.Leu1555Gln) c.3339T>A c.4790T>A (p.Leu1597Gln) c.4769T>A (p.Leu1590Gln) c.4676T>A (p.Leu1559Gln) c.3230T>A (p.Leu1077Gln) | |
| 8 | g.41933563G>A | CA460783285 | KAT6A | c.4657C>T (p.Leu1553=) c.4663C>T (p.Leu1555=) c.3338C>T c.4789C>T (p.Leu1597=) c.4768C>T (p.Leu1590=) c.4675C>T (p.Leu1559=) c.3229C>T (p.Leu1077=) | dbSNP |
| 8 | g.41933563G>C | CA371065121 | KAT6A | c.4657C>G (p.Leu1553Val) c.4663C>G (p.Leu1555Val) c.3338C>G c.4789C>G (p.Leu1597Val) c.4768C>G (p.Leu1590Val) c.4675C>G (p.Leu1559Val) c.3229C>G (p.Leu1077Val) | |
| 8 | g.41933563G= | CA1779195979 | KAT6A | c.4657C= (p.Leu1553=) c.4663C= (p.Leu1555=) c.3338C= c.4789C= (p.Leu1597=) c.4768C= (p.Leu1590=) c.4675C= (p.Leu1559=) c.3229C= (p.Leu1077=) | |
| 8 | g.41933563G>T | CA371065124 | KAT6A | c.4657C>A (p.Leu1553Met) c.4663C>A (p.Leu1555Met) c.3338C>A c.4789C>A (p.Leu1597Met) c.4768C>A (p.Leu1590Met) c.4675C>A (p.Leu1559Met) c.3229C>A (p.Leu1077Met) | |
| 8 | g.41933564G>A | CA460783286 | KAT6A | c.4656C>T (p.Asp1552=) c.4662C>T (p.Asp1554=) c.3337C>T c.4788C>T (p.Asp1596=) c.4767C>T (p.Asp1589=) c.4674C>T (p.Asp1558=) c.3228C>T (p.Asp1076=) | gnomAD v4 |
| 8 | g.41933564G>C | CA371065125 | KAT6A | c.4656C>G (p.Asp1552Glu) c.4662C>G (p.Asp1554Glu) c.3337C>G c.4788C>G (p.Asp1596Glu) c.4767C>G (p.Asp1589Glu) c.4674C>G (p.Asp1558Glu) c.3228C>G (p.Asp1076Glu) | |
| 8 | g.41933564G>T | CA371065126 | KAT6A | c.4656C>A (p.Asp1552Glu) c.4662C>A (p.Asp1554Glu) c.3337C>A c.4788C>A (p.Asp1596Glu) c.4767C>A (p.Asp1589Glu) c.4674C>A (p.Asp1558Glu) c.3228C>A (p.Asp1076Glu) | |
| 8 | g.41933565T>A | CA371065127 | KAT6A | c.4655A>T (p.Asp1552Val) c.4661A>T (p.Asp1554Val) c.3336A>T c.4787A>T (p.Asp1596Val) c.4766A>T (p.Asp1589Val) c.4673A>T (p.Asp1558Val) c.3227A>T (p.Asp1076Val) | |
| 8 | g.41933565T>C | CA371065128 | KAT6A | c.4655A>G (p.Asp1552Gly) c.4661A>G (p.Asp1554Gly) c.3336A>G c.4787A>G (p.Asp1596Gly) c.4766A>G (p.Asp1589Gly) c.4673A>G (p.Asp1558Gly) c.3227A>G (p.Asp1076Gly) | |
| 8 | g.41933565T>G | CA371065129 | KAT6A | c.4655A>C (p.Asp1552Ala) c.4661A>C (p.Asp1554Ala) c.3336A>C c.4787A>C (p.Asp1596Ala) c.4766A>C (p.Asp1589Ala) c.4673A>C (p.Asp1558Ala) c.3227A>C (p.Asp1076Ala) | ClinVar |
| 8 | g.41933566C>A | CA371065130 | KAT6A | c.4654G>T (p.Asp1552Tyr) c.4660G>T (p.Asp1554Tyr) c.3335G>T c.4786G>T (p.Asp1596Tyr) c.4765G>T (p.Asp1589Tyr) c.4672G>T (p.Asp1558Tyr) c.3226G>T (p.Asp1076Tyr) | COSMIC |
| 8 | g.41933566C>G | CA371065132 | KAT6A | c.4654G>C (p.Asp1552His) c.4660G>C (p.Asp1554His) c.3335G>C c.4786G>C (p.Asp1596His) c.4765G>C (p.Asp1589His) c.4672G>C (p.Asp1558His) c.3226G>C (p.Asp1076His) | |
| 8 | g.41933566C>T | CA371065133 | KAT6A | c.4654G>A (p.Asp1552Asn) c.4660G>A (p.Asp1554Asn) c.3335G>A c.4786G>A (p.Asp1596Asn) c.4765G>A (p.Asp1589Asn) c.4672G>A (p.Asp1558Asn) c.3226G>A (p.Asp1076Asn) | gnomAD v4 |
| 8 | g.41933567A>C | CA371065134 | KAT6A | c.4653T>G (p.Ser1551Arg) c.4659T>G (p.Ser1553Arg) c.3334T>G c.4785T>G (p.Ser1595Arg) c.4764T>G (p.Ser1588Arg) c.4671T>G (p.Ser1557Arg) c.3225T>G (p.Ser1075Arg) | |
| 8 | g.41933567A>G | CA460783294 | KAT6A | c.4653T>C (p.Ser1551=) c.4659T>C (p.Ser1553=) c.3334T>C c.4785T>C (p.Ser1595=) c.4764T>C (p.Ser1588=) c.4671T>C (p.Ser1557=) c.3225T>C (p.Ser1075=) | |
| 8 | g.41933567A>T | CA371065135 | KAT6A | c.4653T>A (p.Ser1551Arg) c.4659T>A (p.Ser1553Arg) c.3334T>A c.4785T>A (p.Ser1595Arg) c.4764T>A (p.Ser1588Arg) c.4671T>A (p.Ser1557Arg) c.3225T>A (p.Ser1075Arg) | |
| 8 | g.41933568C>A | CA371065138 | KAT6A | c.4652G>T (p.Ser1551Ile) c.4658G>T (p.Ser1553Ile) c.3333G>T c.4784G>T (p.Ser1595Ile) c.4763G>T (p.Ser1588Ile) c.4670G>T (p.Ser1557Ile) c.3224G>T (p.Ser1075Ile) | |
| 8 | g.41933568C>G | CA371065137 | KAT6A | c.4652G>C (p.Ser1551Thr) c.4658G>C (p.Ser1553Thr) c.3333G>C c.4784G>C (p.Ser1595Thr) c.4763G>C (p.Ser1588Thr) c.4670G>C (p.Ser1557Thr) c.3224G>C (p.Ser1075Thr) | |
| 8 | g.41933568C>T | CA371065136 | KAT6A | c.4652G>A (p.Ser1551Asn) c.4658G>A (p.Ser1553Asn) c.3333G>A c.4784G>A (p.Ser1595Asn) c.4763G>A (p.Ser1588Asn) c.4670G>A (p.Ser1557Asn) c.3224G>A (p.Ser1075Asn) | |
| 8 | g.41933569T>A | CA371065139 | KAT6A | c.4651A>T (p.Ser1551Cys) c.4657A>T (p.Ser1553Cys) c.3332A>T c.4783A>T (p.Ser1595Cys) c.4762A>T (p.Ser1588Cys) c.4669A>T (p.Ser1557Cys) c.3223A>T (p.Ser1075Cys) | |
| 8 | g.41933569T>C | CA371065141 | KAT6A | c.4651A>G (p.Ser1551Gly) c.4657A>G (p.Ser1553Gly) c.3332A>G c.4783A>G (p.Ser1595Gly) c.4762A>G (p.Ser1588Gly) c.4669A>G (p.Ser1557Gly) c.3223A>G (p.Ser1075Gly) | COSMIC |
| 8 | g.41933569T>G | CA371065140 | KAT6A | c.4651A>C (p.Ser1551Arg) c.4657A>C (p.Ser1553Arg) c.3332A>C c.4783A>C (p.Ser1595Arg) c.4762A>C (p.Ser1588Arg) c.4669A>C (p.Ser1557Arg) c.3223A>C (p.Ser1075Arg) | |
| 8 | g.41933570G>A | CA460783301 | KAT6A | c.4650C>T (p.Phe1550=) c.4656C>T (p.Phe1552=) c.3331C>T c.4782C>T (p.Phe1594=) c.4761C>T (p.Phe1587=) c.4668C>T (p.Phe1556=) c.3222C>T (p.Phe1074=) | gnomAD v4 |
| 8 | g.41933570G>C | CA371065142 | KAT6A | c.4650C>G (p.Phe1550Leu) c.4656C>G (p.Phe1552Leu) c.3331C>G c.4782C>G (p.Phe1594Leu) c.4761C>G (p.Phe1587Leu) c.4668C>G (p.Phe1556Leu) c.3222C>G (p.Phe1074Leu) | |
| 8 | g.41933570G>T | CA371065143 | KAT6A | c.4650C>A (p.Phe1550Leu) c.4656C>A (p.Phe1552Leu) c.3331C>A c.4782C>A (p.Phe1594Leu) c.4761C>A (p.Phe1587Leu) c.4668C>A (p.Phe1556Leu) c.3222C>A (p.Phe1074Leu) | |
| 8 | g.41933571A>C | CA371065144 | KAT6A | c.4649T>G (p.Phe1550Cys) c.4655T>G (p.Phe1552Cys) c.3330T>G c.4781T>G (p.Phe1594Cys) c.4760T>G (p.Phe1587Cys) c.4667T>G (p.Phe1556Cys) c.3221T>G (p.Phe1074Cys) | |
| 8 | g.41933571A>G | CA371065145 | KAT6A | c.4649T>C (p.Phe1550Ser) c.4655T>C (p.Phe1552Ser) c.3330T>C c.4781T>C (p.Phe1594Ser) c.4760T>C (p.Phe1587Ser) c.4667T>C (p.Phe1556Ser) c.3221T>C (p.Phe1074Ser) | |
| 8 | g.41933571A>T | CA371065146 | KAT6A | c.4649T>A (p.Phe1550Tyr) c.4655T>A (p.Phe1552Tyr) c.3330T>A c.4781T>A (p.Phe1594Tyr) c.4760T>A (p.Phe1587Tyr) c.4667T>A (p.Phe1556Tyr) c.3221T>A (p.Phe1074Tyr) | |
| 8 | g.41933572A= | CA1779195980 | KAT6A | c.4648T= (p.Phe1550=) c.4654T= (p.Phe1552=) c.3329T= c.4780T= (p.Phe1594=) c.4759T= (p.Phe1587=) c.4666T= (p.Phe1556=) c.3220T= (p.Phe1074=) | |
| 8 | g.41933572A>C | CA371065147 | KAT6A | c.4648T>G (p.Phe1550Val) c.4654T>G (p.Phe1552Val) c.3329T>G c.4780T>G (p.Phe1594Val) c.4759T>G (p.Phe1587Val) c.4666T>G (p.Phe1556Val) c.3220T>G (p.Phe1074Val) | |
| 8 | g.41933572A>G | CA371065148 | KAT6A | c.4648T>C (p.Phe1550Leu) c.4654T>C (p.Phe1552Leu) c.3329T>C c.4780T>C (p.Phe1594Leu) c.4759T>C (p.Phe1587Leu) c.4666T>C (p.Phe1556Leu) c.3220T>C (p.Phe1074Leu) | |
| 8 | g.41933572A>T | CA371065149 | KAT6A | c.4648T>A (p.Phe1550Ile) c.4654T>A (p.Phe1552Ile) c.3329T>A c.4780T>A (p.Phe1594Ile) c.4759T>A (p.Phe1587Ile) c.4666T>A (p.Phe1556Ile) c.3220T>A (p.Phe1074Ile) | dbSNP |
| 8 | g.41933573G>A | CA460783307 | KAT6A | c.4647C>T (p.Gly1549=) c.4653C>T (p.Gly1551=) c.3328C>T c.4779C>T (p.Gly1593=) c.4758C>T (p.Gly1586=) c.4665C>T (p.Gly1555=) c.3219C>T (p.Gly1073=) | |
| 8 | g.41933573G>C | CA460783308 | KAT6A | c.4647C>G (p.Gly1549=) c.4653C>G (p.Gly1551=) c.3328C>G c.4779C>G (p.Gly1593=) c.4758C>G (p.Gly1586=) c.4665C>G (p.Gly1555=) c.3219C>G (p.Gly1073=) | |
| 8 | g.41933573G>T | CA460783309 | KAT6A | c.4647C>A (p.Gly1549=) c.4653C>A (p.Gly1551=) c.3328C>A c.4779C>A (p.Gly1593=) c.4758C>A (p.Gly1586=) c.4665C>A (p.Gly1555=) c.3219C>A (p.Gly1073=) | |
| 8 | g.41933574C>A | CA371065150 | KAT6A | c.4646G>T (p.Gly1549Val) c.4652G>T (p.Gly1551Val) c.3327G>T c.4778G>T (p.Gly1593Val) c.4757G>T (p.Gly1586Val) c.4664G>T (p.Gly1555Val) c.3218G>T (p.Gly1073Val) | |
| 8 | g.41933574C>G | CA371065151 | KAT6A | c.4646G>C (p.Gly1549Ala) c.4652G>C (p.Gly1551Ala) c.3327G>C c.4778G>C (p.Gly1593Ala) c.4757G>C (p.Gly1586Ala) c.4664G>C (p.Gly1555Ala) c.3218G>C (p.Gly1073Ala) | |
| 8 | g.41933574C>T | CA371065152 | KAT6A | c.4646G>A (p.Gly1549Asp) c.4652G>A (p.Gly1551Asp) c.3327G>A c.4778G>A (p.Gly1593Asp) c.4757G>A (p.Gly1586Asp) c.4664G>A (p.Gly1555Asp) c.3218G>A (p.Gly1073Asp) | |
| 8 | g.41933575C>A | CA371065154 | KAT6A | c.4645G>T (p.Gly1549Cys) c.4651G>T (p.Gly1551Cys) c.3326G>T c.4777G>T (p.Gly1593Cys) c.4756G>T (p.Gly1586Cys) c.4663G>T (p.Gly1555Cys) c.3217G>T (p.Gly1073Cys) | |
| 8 | g.41933575C= | CA1779195981 | KAT6A | c.4645G= (p.Gly1549=) c.4651G= (p.Gly1551=) c.3326G= c.4777G= (p.Gly1593=) c.4756G= (p.Gly1586=) c.4663G= (p.Gly1555=) c.3217G= (p.Gly1073=) | |
| 8 | g.41933575C>G | CA371065153 | KAT6A | c.4645G>C (p.Gly1549Arg) c.4651G>C (p.Gly1551Arg) c.3326G>C c.4777G>C (p.Gly1593Arg) c.4756G>C (p.Gly1586Arg) c.4663G>C (p.Gly1555Arg) c.3217G>C (p.Gly1073Arg) | |
| 8 | g.41933575C>T | CA16618636 | KAT6A | c.4645G>A (p.Gly1549Ser) c.4651G>A (p.Gly1551Ser) c.3326G>A c.4777G>A (p.Gly1593Ser) c.4756G>A (p.Gly1586Ser) c.4663G>A (p.Gly1555Ser) c.3217G>A (p.Gly1073Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.41933576G>A | CA4729443 | KAT6A | c.4644C>T (p.Ser1548=) c.4650C>T (p.Ser1550=) c.3325C>T c.4776C>T (p.Ser1592=) c.4755C>T (p.Ser1585=) c.4662C>T (p.Ser1554=) c.3216C>T (p.Ser1072=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933576G>C | CA371065155 | KAT6A | c.4644C>G (p.Ser1548Arg) c.4650C>G (p.Ser1550Arg) c.3325C>G c.4776C>G (p.Ser1592Arg) c.4755C>G (p.Ser1585Arg) c.4662C>G (p.Ser1554Arg) c.3216C>G (p.Ser1072Arg) | |
| 8 | g.41933576G= | CA1779195982 | KAT6A | c.4644C= (p.Ser1548=) c.4650C= (p.Ser1550=) c.3325C= c.4776C= (p.Ser1592=) c.4755C= (p.Ser1585=) c.4662C= (p.Ser1554=) c.3216C= (p.Ser1072=) | |
| 8 | g.41933576G>T | CA371065156 | KAT6A | c.4644C>A (p.Ser1548Arg) c.4650C>A (p.Ser1550Arg) c.3325C>A c.4776C>A (p.Ser1592Arg) c.4755C>A (p.Ser1585Arg) c.4662C>A (p.Ser1554Arg) c.3216C>A (p.Ser1072Arg) | |
| 8 | g.41933577C>A | CA371065157 | KAT6A | c.4643G>T (p.Ser1548Ile) c.4649G>T (p.Ser1550Ile) c.3324G>T c.4775G>T (p.Ser1592Ile) c.4754G>T (p.Ser1585Ile) c.4661G>T (p.Ser1554Ile) c.3215G>T (p.Ser1072Ile) | |
| 8 | g.41933577C>G | CA371065158 | KAT6A | c.4643G>C (p.Ser1548Thr) c.4649G>C (p.Ser1550Thr) c.3324G>C c.4775G>C (p.Ser1592Thr) c.4754G>C (p.Ser1585Thr) c.4661G>C (p.Ser1554Thr) c.3215G>C (p.Ser1072Thr) | |
| 8 | g.41933577C>T | CA371065159 | KAT6A | c.4643G>A (p.Ser1548Asn) c.4649G>A (p.Ser1550Asn) c.3324G>A c.4775G>A (p.Ser1592Asn) c.4754G>A (p.Ser1585Asn) c.4661G>A (p.Ser1554Asn) c.3215G>A (p.Ser1072Asn) | ClinVar |
| 8 | g.41933578T>A | CA371065160 | KAT6A | c.4642A>T (p.Ser1548Cys) c.4648A>T (p.Ser1550Cys) c.3323A>T c.4774A>T (p.Ser1592Cys) c.4753A>T (p.Ser1585Cys) c.4660A>T (p.Ser1554Cys) c.3214A>T (p.Ser1072Cys) | |
| 8 | g.41933578T>C | CA371065161 | KAT6A | c.4642A>G (p.Ser1548Gly) c.4648A>G (p.Ser1550Gly) c.3323A>G c.4774A>G (p.Ser1592Gly) c.4753A>G (p.Ser1585Gly) c.4660A>G (p.Ser1554Gly) c.3214A>G (p.Ser1072Gly) | |
| 8 | g.41933578T>G | CA371065162 | KAT6A | c.4642A>C (p.Ser1548Arg) c.4648A>C (p.Ser1550Arg) c.3323A>C c.4774A>C (p.Ser1592Arg) c.4753A>C (p.Ser1585Arg) c.4660A>C (p.Ser1554Arg) c.3214A>C (p.Ser1072Arg) | |
| 8 | g.41933579G>A | CA175939216 | KAT6A | c.4641C>T (p.Asp1547=) c.4647C>T (p.Asp1549=) c.3322C>T c.4773C>T (p.Asp1591=) c.4752C>T (p.Asp1584=) c.4659C>T (p.Asp1553=) c.3213C>T (p.Asp1071=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933579G>C | CA371065165 | KAT6A | c.4641C>G (p.Asp1547Glu) c.4647C>G (p.Asp1549Glu) c.3322C>G c.4773C>G (p.Asp1591Glu) c.4752C>G (p.Asp1584Glu) c.4659C>G (p.Asp1553Glu) c.3213C>G (p.Asp1071Glu) | |
| 8 | g.41933579G= | CA1779195983 | KAT6A | c.4641C= (p.Asp1547=) c.4647C= (p.Asp1549=) c.3322C= c.4773C= (p.Asp1591=) c.4752C= (p.Asp1584=) c.4659C= (p.Asp1553=) c.3213C= (p.Asp1071=) | |
| 8 | g.41933579G>T | CA371065167 | KAT6A | c.4641C>A (p.Asp1547Glu) c.4647C>A (p.Asp1549Glu) c.3322C>A c.4773C>A (p.Asp1591Glu) c.4752C>A (p.Asp1584Glu) c.4659C>A (p.Asp1553Glu) c.3213C>A (p.Asp1071Glu) | |
| 8 | g.41933580T>A | CA371065177 | KAT6A | c.4640A>T (p.Asp1547Val) c.4646A>T (p.Asp1549Val) c.3321A>T c.4772A>T (p.Asp1591Val) c.4751A>T (p.Asp1584Val) c.4658A>T (p.Asp1553Val) c.3212A>T (p.Asp1071Val) | |
| 8 | g.41933580T>C | CA371065175 | KAT6A | c.4640A>G (p.Asp1547Gly) c.4646A>G (p.Asp1549Gly) c.3321A>G c.4772A>G (p.Asp1591Gly) c.4751A>G (p.Asp1584Gly) c.4658A>G (p.Asp1553Gly) c.3212A>G (p.Asp1071Gly) | |
| 8 | g.41933580T>G | CA371065170 | KAT6A | c.4640A>C (p.Asp1547Ala) c.4646A>C (p.Asp1549Ala) c.3321A>C c.4772A>C (p.Asp1591Ala) c.4751A>C (p.Asp1584Ala) c.4658A>C (p.Asp1553Ala) c.3212A>C (p.Asp1071Ala) | |
| 8 | g.41933581C>A | CA371065184 | KAT6A | c.4639G>T (p.Asp1547Tyr) c.4645G>T (p.Asp1549Tyr) c.3320G>T c.4771G>T (p.Asp1591Tyr) c.4750G>T (p.Asp1584Tyr) c.4657G>T (p.Asp1553Tyr) c.3211G>T (p.Asp1071Tyr) | COSMIC |
| 8 | g.41933581C>G | CA371065180 | KAT6A | c.4639G>C (p.Asp1547His) c.4645G>C (p.Asp1549His) c.3320G>C c.4771G>C (p.Asp1591His) c.4750G>C (p.Asp1584His) c.4657G>C (p.Asp1553His) c.3211G>C (p.Asp1071His) | |
| 8 | g.41933581C>T | CA371065182 | KAT6A | c.4639G>A (p.Asp1547Asn) c.4645G>A (p.Asp1549Asn) c.3320G>A c.4771G>A (p.Asp1591Asn) c.4750G>A (p.Asp1584Asn) c.4657G>A (p.Asp1553Asn) c.3211G>A (p.Asp1071Asn) | |
| 8 | g.41933582C>A | CA460783325 | KAT6A | c.4638G>T (p.Val1546=) c.4644G>T (p.Val1548=) c.3319G>T c.4770G>T (p.Val1590=) c.4749G>T (p.Val1583=) c.4656G>T (p.Val1552=) c.3210G>T (p.Val1070=) | |
| 8 | g.41933582C= | CA1779195984 | KAT6A | c.4638G= (p.Val1546=) c.4644G= (p.Val1548=) c.3319G= c.4770G= (p.Val1590=) c.4749G= (p.Val1583=) c.4656G= (p.Val1552=) c.3210G= (p.Val1070=) | |
| 8 | g.41933582C>G | CA460783324 | KAT6A | c.4638G>C (p.Val1546=) c.4644G>C (p.Val1548=) c.3319G>C c.4770G>C (p.Val1590=) c.4749G>C (p.Val1583=) c.4656G>C (p.Val1552=) c.3210G>C (p.Val1070=) | |
| 8 | g.41933582C>T | CA4729444 | KAT6A | c.4638G>A (p.Val1546=) c.4644G>A (p.Val1548=) c.3319G>A c.4770G>A (p.Val1590=) c.4749G>A (p.Val1583=) c.4656G>A (p.Val1552=) c.3210G>A (p.Val1070=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933583A>C | CA371065188 | KAT6A | c.4637T>G (p.Val1546Gly) c.4643T>G (p.Val1548Gly) c.3318T>G c.4769T>G (p.Val1590Gly) c.4748T>G (p.Val1583Gly) c.4655T>G (p.Val1552Gly) c.3209T>G (p.Val1070Gly) | |
| 8 | g.41933583A>G | CA371065190 | KAT6A | c.4637T>C (p.Val1546Ala) c.4643T>C (p.Val1548Ala) c.3318T>C c.4769T>C (p.Val1590Ala) c.4748T>C (p.Val1583Ala) c.4655T>C (p.Val1552Ala) c.3209T>C (p.Val1070Ala) | ClinVar gnomAD v4 |
| 8 | g.41933583A>T | CA371065192 | KAT6A | c.4637T>A (p.Val1546Glu) c.4643T>A (p.Val1548Glu) c.3318T>A c.4769T>A (p.Val1590Glu) c.4748T>A (p.Val1583Glu) c.4655T>A (p.Val1552Glu) c.3209T>A (p.Val1070Glu) | |
| 8 | g.41933584C>A | CA371065196 | KAT6A | c.4636G>T (p.Val1546Leu) c.4642G>T (p.Val1548Leu) c.3317G>T c.4768G>T (p.Val1590Leu) c.4747G>T (p.Val1583Leu) c.4654G>T (p.Val1552Leu) c.3208G>T (p.Val1070Leu) | |
| 8 | g.41933584C>G | CA371065197 | KAT6A | c.4636G>C (p.Val1546Leu) c.4642G>C (p.Val1548Leu) c.3317G>C c.4768G>C (p.Val1590Leu) c.4747G>C (p.Val1583Leu) c.4654G>C (p.Val1552Leu) c.3208G>C (p.Val1070Leu) | |
| 8 | g.41933584C>T | CA371065198 | KAT6A | c.4636G>A (p.Val1546Met) c.4642G>A (p.Val1548Met) c.3317G>A c.4768G>A (p.Val1590Met) c.4747G>A (p.Val1583Met) c.4654G>A (p.Val1552Met) c.3208G>A (p.Val1070Met) | |
| 8 | g.41933585C>A | CA460783331 | KAT6A | c.4635G>T (p.Val1545=) c.4641G>T (p.Val1547=) c.3316G>T c.4767G>T (p.Val1589=) c.4746G>T (p.Val1582=) c.4653G>T (p.Val1551=) c.3207G>T (p.Val1069=) | |
| 8 | g.41933585C= | CA1779195985 | KAT6A | c.4635G= (p.Val1545=) c.4641G= (p.Val1547=) c.3316G= c.4767G= (p.Val1589=) c.4746G= (p.Val1582=) c.4653G= (p.Val1551=) c.3207G= (p.Val1069=) | |
| 8 | g.41933585C>G | CA4729445 | KAT6A | c.4635G>C (p.Val1545=) c.4641G>C (p.Val1547=) c.3316G>C c.4767G>C (p.Val1589=) c.4746G>C (p.Val1582=) c.4653G>C (p.Val1551=) c.3207G>C (p.Val1069=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933585C>T | CA460783329 | KAT6A | c.4635G>A (p.Val1545=) c.4641G>A (p.Val1547=) c.3316G>A c.4767G>A (p.Val1589=) c.4746G>A (p.Val1582=) c.4653G>A (p.Val1551=) c.3207G>A (p.Val1069=) | |
| 8 | g.41933586A>C | CA371065202 | KAT6A | c.4634T>G (p.Val1545Gly) c.4640T>G (p.Val1547Gly) c.3315T>G c.4766T>G (p.Val1589Gly) c.4745T>G (p.Val1582Gly) c.4652T>G (p.Val1551Gly) c.3206T>G (p.Val1069Gly) | |
| 8 | g.41933586A>G | CA371065205 | KAT6A | c.4634T>C (p.Val1545Ala) c.4640T>C (p.Val1547Ala) c.3315T>C c.4766T>C (p.Val1589Ala) c.4745T>C (p.Val1582Ala) c.4652T>C (p.Val1551Ala) c.3206T>C (p.Val1069Ala) | |
| 8 | g.41933586A>T | CA371065207 | KAT6A | c.4634T>A (p.Val1545Glu) c.4640T>A (p.Val1547Glu) c.3315T>A c.4766T>A (p.Val1589Glu) c.4745T>A (p.Val1582Glu) c.4652T>A (p.Val1551Glu) c.3206T>A (p.Val1069Glu) | |
| 8 | g.41933587C>A | CA371065214 | KAT6A | c.4633G>T (p.Val1545Leu) c.4639G>T (p.Val1547Leu) c.3314G>T c.4765G>T (p.Val1589Leu) c.4744G>T (p.Val1582Leu) c.4651G>T (p.Val1551Leu) c.3205G>T (p.Val1069Leu) | |
| 8 | g.41933587C= | CA1779195986 | KAT6A | c.4633G= (p.Val1545=) c.4639G= (p.Val1547=) c.3314G= c.4765G= (p.Val1589=) c.4744G= (p.Val1582=) c.4651G= (p.Val1551=) c.3205G= (p.Val1069=) | |
| 8 | g.41933587C>G | CA371065210 | KAT6A | c.4633G>C (p.Val1545Leu) c.4639G>C (p.Val1547Leu) c.3314G>C c.4765G>C (p.Val1589Leu) c.4744G>C (p.Val1582Leu) c.4651G>C (p.Val1551Leu) c.3205G>C (p.Val1069Leu) | |
| 8 | g.41933587C>T | CA371065212 | KAT6A | c.4633G>A (p.Val1545Met) c.4639G>A (p.Val1547Met) c.3314G>A c.4765G>A (p.Val1589Met) c.4744G>A (p.Val1582Met) c.4651G>A (p.Val1551Met) c.3205G>A (p.Val1069Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933588C>A | CA371065216 | KAT6A | c.4632G>T (p.Gln1544His) c.4638G>T (p.Gln1546His) c.3313G>T c.4764G>T (p.Gln1588His) c.4743G>T (p.Gln1581His) c.4650G>T (p.Gln1550His) c.3204G>T (p.Gln1068His) | |
| 8 | g.41933588C>G | CA371065218 | KAT6A | c.4632G>C (p.Gln1544His) c.4638G>C (p.Gln1546His) c.3313G>C c.4764G>C (p.Gln1588His) c.4743G>C (p.Gln1581His) c.4650G>C (p.Gln1550His) c.3204G>C (p.Gln1068His) | |
| 8 | g.41933588C>T | CA460783338 | KAT6A | c.4632G>A (p.Gln1544=) c.4638G>A (p.Gln1546=) c.3313G>A c.4764G>A (p.Gln1588=) c.4743G>A (p.Gln1581=) c.4650G>A (p.Gln1550=) c.3204G>A (p.Gln1068=) | gnomAD v4 |
| 8 | g.41933589T>A | CA371065220 | KAT6A | c.4631A>T (p.Gln1544Leu) c.4637A>T (p.Gln1546Leu) c.3312A>T c.4763A>T (p.Gln1588Leu) c.4742A>T (p.Gln1581Leu) c.4649A>T (p.Gln1550Leu) c.3203A>T (p.Gln1068Leu) | |
| 8 | g.41933589T>C | CA371065222 | KAT6A | c.4631A>G (p.Gln1544Arg) c.4637A>G (p.Gln1546Arg) c.3312A>G c.4763A>G (p.Gln1588Arg) c.4742A>G (p.Gln1581Arg) c.4649A>G (p.Gln1550Arg) c.3203A>G (p.Gln1068Arg) | |
| 8 | g.41933589T>G | CA371065224 | KAT6A | c.4631A>C (p.Gln1544Pro) c.4637A>C (p.Gln1546Pro) c.3312A>C c.4763A>C (p.Gln1588Pro) c.4742A>C (p.Gln1581Pro) c.4649A>C (p.Gln1550Pro) c.3203A>C (p.Gln1068Pro) | |
| 8 | g.41933590G>A | CA371065226 | KAT6A | c.4630C>T (p.Gln1544Ter) c.4636C>T (p.Gln1546Ter) c.3311C>T c.4762C>T (p.Gln1588Ter) c.4741C>T (p.Gln1581Ter) c.4648C>T (p.Gln1550Ter) c.3202C>T (p.Gln1068Ter) | |
| 8 | g.41933590G>C | CA371065229 | KAT6A | c.4630C>G (p.Gln1544Glu) c.4636C>G (p.Gln1546Glu) c.3311C>G c.4762C>G (p.Gln1588Glu) c.4741C>G (p.Gln1581Glu) c.4648C>G (p.Gln1550Glu) c.3202C>G (p.Gln1068Glu) | |
| 8 | g.41933590G>T | CA371065231 | KAT6A | c.4630C>A (p.Gln1544Lys) c.4636C>A (p.Gln1546Lys) c.3311C>A c.4762C>A (p.Gln1588Lys) c.4741C>A (p.Gln1581Lys) c.4648C>A (p.Gln1550Lys) c.3202C>A (p.Gln1068Lys) | |
| 8 | g.41933591C>A | CA371065233 | KAT6A | c.4629G>T (p.Gln1543His) c.4635G>T (p.Gln1545His) c.3310G>T c.4761G>T (p.Gln1587His) c.4740G>T (p.Gln1580His) c.4647G>T (p.Gln1549His) c.3201G>T (p.Gln1067His) | |
| 8 | g.41933591C>G | CA371065235 | KAT6A | c.4629G>C (p.Gln1543His) c.4635G>C (p.Gln1545His) c.3310G>C c.4761G>C (p.Gln1587His) c.4740G>C (p.Gln1580His) c.4647G>C (p.Gln1549His) c.3201G>C (p.Gln1067His) | |
| 8 | g.41933591C>T | CA460783346 | KAT6A | c.4629G>A (p.Gln1543=) c.4635G>A (p.Gln1545=) c.3310G>A c.4761G>A (p.Gln1587=) c.4740G>A (p.Gln1580=) c.4647G>A (p.Gln1549=) c.3201G>A (p.Gln1067=) | gnomAD v4 COSMIC |
| 8 | g.41933592T>A | CA371065237 | KAT6A | c.4628A>T (p.Gln1543Leu) c.4634A>T (p.Gln1545Leu) c.3309A>T c.4760A>T (p.Gln1587Leu) c.4739A>T (p.Gln1580Leu) c.4646A>T (p.Gln1549Leu) c.3200A>T (p.Gln1067Leu) | |
| 8 | g.41933592T>C | CA371065239 | KAT6A | c.4628A>G (p.Gln1543Arg) c.4634A>G (p.Gln1545Arg) c.3309A>G c.4760A>G (p.Gln1587Arg) c.4739A>G (p.Gln1580Arg) c.4646A>G (p.Gln1549Arg) c.3200A>G (p.Gln1067Arg) | |
| 8 | g.41933592T>G | CA371065241 | KAT6A | c.4628A>C (p.Gln1543Pro) c.4634A>C (p.Gln1545Pro) c.3309A>C c.4760A>C (p.Gln1587Pro) c.4739A>C (p.Gln1580Pro) c.4646A>C (p.Gln1549Pro) c.3200A>C (p.Gln1067Pro) | |
| 8 | g.41933593G>A | CA371065246 | KAT6A | c.4627C>T (p.Gln1543Ter) c.4633C>T (p.Gln1545Ter) c.3308C>T c.4759C>T (p.Gln1587Ter) c.4738C>T (p.Gln1580Ter) c.4645C>T (p.Gln1549Ter) c.3199C>T (p.Gln1067Ter) | |
| 8 | g.41933593G>C | CA371065244 | KAT6A | c.4627C>G (p.Gln1543Glu) c.4633C>G (p.Gln1545Glu) c.3308C>G c.4759C>G (p.Gln1587Glu) c.4738C>G (p.Gln1580Glu) c.4645C>G (p.Gln1549Glu) c.3199C>G (p.Gln1067Glu) | |
| 8 | g.41933593G>T | CA371065243 | KAT6A | c.4627C>A (p.Gln1543Lys) c.4633C>A (p.Gln1545Lys) c.3308C>A c.4759C>A (p.Gln1587Lys) c.4738C>A (p.Gln1580Lys) c.4645C>A (p.Gln1549Lys) c.3199C>A (p.Gln1067Lys) | |
| 8 | g.41933594A= | CA1779195987 | KAT6A | c.4626T= (p.Ser1542=) c.4632T= (p.Ser1544=) c.3307T= c.4758T= (p.Ser1586=) c.4737T= (p.Ser1579=) c.4644T= (p.Ser1548=) c.3198T= (p.Ser1066=) | |
| 8 | g.41933594A>C | CA4729446 | KAT6A | c.4626T>G (p.Ser1542=) c.4632T>G (p.Ser1544=) c.3307T>G c.4758T>G (p.Ser1586=) c.4737T>G (p.Ser1579=) c.4644T>G (p.Ser1548=) c.3198T>G (p.Ser1066=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933594A>G | CA460783353 | KAT6A | c.4626T>C (p.Ser1542=) c.4632T>C (p.Ser1544=) c.3307T>C c.4758T>C (p.Ser1586=) c.4737T>C (p.Ser1579=) c.4644T>C (p.Ser1548=) c.3198T>C (p.Ser1066=) | |
| 8 | g.41933594A>T | CA460783354 | KAT6A | c.4626T>A (p.Ser1542=) c.4632T>A (p.Ser1544=) c.3307T>A c.4758T>A (p.Ser1586=) c.4737T>A (p.Ser1579=) c.4644T>A (p.Ser1548=) c.3198T>A (p.Ser1066=) | |
| 8 | g.41933595G>A | CA371065249 | KAT6A | c.4625C>T (p.Ser1542Phe) c.4631C>T (p.Ser1544Phe) c.3306C>T c.4757C>T (p.Ser1586Phe) c.4736C>T (p.Ser1579Phe) c.4643C>T (p.Ser1548Phe) c.3197C>T (p.Ser1066Phe) | ClinVar |
| 8 | g.41933595G>C | CA371065251 | KAT6A | c.4625C>G (p.Ser1542Cys) c.4631C>G (p.Ser1544Cys) c.3306C>G c.4757C>G (p.Ser1586Cys) c.4736C>G (p.Ser1579Cys) c.4643C>G (p.Ser1548Cys) c.3197C>G (p.Ser1066Cys) | gnomAD v4 |
| 8 | g.41933595G>T | CA371065253 | KAT6A | c.4625C>A (p.Ser1542Tyr) c.4631C>A (p.Ser1544Tyr) c.3306C>A c.4757C>A (p.Ser1586Tyr) c.4736C>A (p.Ser1579Tyr) c.4643C>A (p.Ser1548Tyr) c.3197C>A (p.Ser1066Tyr) | |
| 8 | g.41933596A>C | CA371065256 | KAT6A | c.4624T>G (p.Ser1542Ala) c.4630T>G (p.Ser1544Ala) c.3305T>G c.4756T>G (p.Ser1586Ala) c.4735T>G (p.Ser1579Ala) c.4642T>G (p.Ser1548Ala) c.3196T>G (p.Ser1066Ala) | |
| 8 | g.41933596A>G | CA371065258 | KAT6A | c.4624T>C (p.Ser1542Pro) c.4630T>C (p.Ser1544Pro) c.3305T>C c.4756T>C (p.Ser1586Pro) c.4735T>C (p.Ser1579Pro) c.4642T>C (p.Ser1548Pro) c.3196T>C (p.Ser1066Pro) | |
| 8 | g.41933596A>T | CA371065260 | KAT6A | c.4624T>A (p.Ser1542Thr) c.4630T>A (p.Ser1544Thr) c.3305T>A c.4756T>A (p.Ser1586Thr) c.4735T>A (p.Ser1579Thr) c.4642T>A (p.Ser1548Thr) c.3196T>A (p.Ser1066Thr) | |
| 8 | g.41933597G>A | CA4729447 | KAT6A | c.4623C>T (p.His1541=) c.4629C>T (p.His1543=) c.3304C>T c.4755C>T (p.His1585=) c.4734C>T (p.His1578=) c.4641C>T (p.His1547=) c.3195C>T (p.His1065=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933597G>C | CA371065263 | KAT6A | c.4623C>G (p.His1541Gln) c.4629C>G (p.His1543Gln) c.3304C>G c.4755C>G (p.His1585Gln) c.4734C>G (p.His1578Gln) c.4641C>G (p.His1547Gln) c.3195C>G (p.His1065Gln) | gnomAD v4 |
| 8 | g.41933597G= | CA1779195988 | KAT6A | c.4623C= (p.His1541=) c.4629C= (p.His1543=) c.3304C= c.4755C= (p.His1585=) c.4734C= (p.His1578=) c.4641C= (p.His1547=) c.3195C= (p.His1065=) | |
| 8 | g.41933597G>T | CA371065266 | KAT6A | c.4623C>A (p.His1541Gln) c.4629C>A (p.His1543Gln) c.3304C>A c.4755C>A (p.His1585Gln) c.4734C>A (p.His1578Gln) c.4641C>A (p.His1547Gln) c.3195C>A (p.His1065Gln) | |
| 8 | g.41933598T>A | CA371065268 | KAT6A | c.4622A>T (p.His1541Leu) c.4628A>T (p.His1543Leu) c.3303A>T c.4754A>T (p.His1585Leu) c.4733A>T (p.His1578Leu) c.4640A>T (p.His1547Leu) c.3194A>T (p.His1065Leu) | |
| 8 | g.41933598T>C | CA371065270 | KAT6A | c.4622A>G (p.His1541Arg) c.4628A>G (p.His1543Arg) c.3303A>G c.4754A>G (p.His1585Arg) c.4733A>G (p.His1578Arg) c.4640A>G (p.His1547Arg) c.3194A>G (p.His1065Arg) | |
| 8 | g.41933598T>G | CA371065272 | KAT6A | c.4622A>C (p.His1541Pro) c.4628A>C (p.His1543Pro) c.3303A>C c.4754A>C (p.His1585Pro) c.4733A>C (p.His1578Pro) c.4640A>C (p.His1547Pro) c.3194A>C (p.His1065Pro) | |
| 8 | g.41933599G>A | CA371065278 | KAT6A | c.4621C>T (p.His1541Tyr) c.4627C>T (p.His1543Tyr) c.3302C>T c.4753C>T (p.His1585Tyr) c.4732C>T (p.His1578Tyr) c.4639C>T (p.His1547Tyr) c.3193C>T (p.His1065Tyr) | |
| 8 | g.41933599G>C | CA371065277 | KAT6A | c.4621C>G (p.His1541Asp) c.4627C>G (p.His1543Asp) c.3302C>G c.4753C>G (p.His1585Asp) c.4732C>G (p.His1578Asp) c.4639C>G (p.His1547Asp) c.3193C>G (p.His1065Asp) | |
| 8 | g.41933599G>T | CA371065275 | KAT6A | c.4621C>A (p.His1541Asn) c.4627C>A (p.His1543Asn) c.3302C>A c.4753C>A (p.His1585Asn) c.4732C>A (p.His1578Asn) c.4639C>A (p.His1547Asn) c.3193C>A (p.His1065Asn) | |
| 8 | g.41933600G>A | CA460783371 | KAT6A | c.4620C>T (p.Asp1540=) c.4626C>T (p.Asp1542=) c.3301C>T c.4752C>T (p.Asp1584=) c.4731C>T (p.Asp1577=) c.4638C>T (p.Asp1546=) c.3192C>T (p.Asp1064=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933600G>C | CA371065282 | KAT6A | c.4620C>G (p.Asp1540Glu) c.4626C>G (p.Asp1542Glu) c.3301C>G c.4752C>G (p.Asp1584Glu) c.4731C>G (p.Asp1577Glu) c.4638C>G (p.Asp1546Glu) c.3192C>G (p.Asp1064Glu) | |
| 8 | g.41933600G= | CA1779195989 | KAT6A | c.4620C= (p.Asp1540=) c.4626C= (p.Asp1542=) c.3301C= c.4752C= (p.Asp1584=) c.4731C= (p.Asp1577=) c.4638C= (p.Asp1546=) c.3192C= (p.Asp1064=) | |
| 8 | g.41933600G>T | CA371065284 | KAT6A | c.4620C>A (p.Asp1540Glu) c.4626C>A (p.Asp1542Glu) c.3301C>A c.4752C>A (p.Asp1584Glu) c.4731C>A (p.Asp1577Glu) c.4638C>A (p.Asp1546Glu) c.3192C>A (p.Asp1064Glu) | |
| 8 | g.41933601T>A | CA371065286 | KAT6A | c.4619A>T (p.Asp1540Val) c.4625A>T (p.Asp1542Val) c.3300A>T c.4751A>T (p.Asp1584Val) c.4730A>T (p.Asp1577Val) c.4637A>T (p.Asp1546Val) c.3191A>T (p.Asp1064Val) | |
| 8 | g.41933601T>C | CA371065288 | KAT6A | c.4619A>G (p.Asp1540Gly) c.4625A>G (p.Asp1542Gly) c.3300A>G c.4751A>G (p.Asp1584Gly) c.4730A>G (p.Asp1577Gly) c.4637A>G (p.Asp1546Gly) c.3191A>G (p.Asp1064Gly) | |
| 8 | g.41933601T>G | CA371065290 | KAT6A | c.4619A>C (p.Asp1540Ala) c.4625A>C (p.Asp1542Ala) c.3300A>C c.4751A>C (p.Asp1584Ala) c.4730A>C (p.Asp1577Ala) c.4637A>C (p.Asp1546Ala) c.3191A>C (p.Asp1064Ala) | |
| 8 | g.41933602C>A | CA371065292 | KAT6A | c.4618G>T (p.Asp1540Tyr) c.4624G>T (p.Asp1542Tyr) c.3299G>T c.4750G>T (p.Asp1584Tyr) c.4729G>T (p.Asp1577Tyr) c.4636G>T (p.Asp1546Tyr) c.3190G>T (p.Asp1064Tyr) | |
| 8 | g.41933602C>G | CA371065293 | KAT6A | c.4618G>C (p.Asp1540His) c.4624G>C (p.Asp1542His) c.3299G>C c.4750G>C (p.Asp1584His) c.4729G>C (p.Asp1577His) c.4636G>C (p.Asp1546His) c.3190G>C (p.Asp1064His) | |
| 8 | g.41933602C>T | CA371065295 | KAT6A | c.4618G>A (p.Asp1540Asn) c.4624G>A (p.Asp1542Asn) c.3299G>A c.4750G>A (p.Asp1584Asn) c.4729G>A (p.Asp1577Asn) c.4636G>A (p.Asp1546Asn) c.3190G>A (p.Asp1064Asn) | COSMIC |
| 8 | g.41933603T>A | CA460783379 | KAT6A | c.4617A>T (p.Ser1539=) c.4623A>T (p.Ser1541=) c.3298A>T c.4749A>T (p.Ser1583=) c.4728A>T (p.Ser1576=) c.4635A>T (p.Ser1545=) c.3189A>T (p.Ser1063=) | |
| 8 | g.41933603T>C | CA460783382 | KAT6A | c.4617A>G (p.Ser1539=) c.4623A>G (p.Ser1541=) c.3298A>G c.4749A>G (p.Ser1583=) c.4728A>G (p.Ser1576=) c.4635A>G (p.Ser1545=) c.3189A>G (p.Ser1063=) | gnomAD v4 |
| 8 | g.41933603T>G | CA460783383 | KAT6A | c.4617A>C (p.Ser1539=) c.4623A>C (p.Ser1541=) c.3298A>C c.4749A>C (p.Ser1583=) c.4728A>C (p.Ser1576=) c.4635A>C (p.Ser1545=) c.3189A>C (p.Ser1063=) | |
| 8 | g.41933604G>A | CA371065298 | KAT6A | c.4616C>T (p.Ser1539Leu) c.4622C>T (p.Ser1541Leu) c.3297C>T c.4748C>T (p.Ser1583Leu) c.4727C>T (p.Ser1576Leu) c.4634C>T (p.Ser1545Leu) c.3188C>T (p.Ser1063Leu) | |
| 8 | g.41933604G>C | CA371065299 | KAT6A | c.4616C>G (p.Ser1539Ter) c.4622C>G (p.Ser1541Ter) c.3297C>G c.4748C>G (p.Ser1583Ter) c.4727C>G (p.Ser1576Ter) c.4634C>G (p.Ser1545Ter) c.3188C>G (p.Ser1063Ter) | |
| 8 | g.41933604G>T | CA371065301 | KAT6A | c.4616C>A (p.Ser1539Ter) c.4622C>A (p.Ser1541Ter) c.3297C>A c.4748C>A (p.Ser1583Ter) c.4727C>A (p.Ser1576Ter) c.4634C>A (p.Ser1545Ter) c.3188C>A (p.Ser1063Ter) | |
| 8 | g.41933605A>C | CA371065305 | KAT6A | c.4615T>G (p.Ser1539Ala) c.4621T>G (p.Ser1541Ala) c.3296T>G c.4747T>G (p.Ser1583Ala) c.4726T>G (p.Ser1576Ala) c.4633T>G (p.Ser1545Ala) c.3187T>G (p.Ser1063Ala) | |
| 8 | g.41933605A>G | CA371065307 | KAT6A | c.4615T>C (p.Ser1539Pro) c.4621T>C (p.Ser1541Pro) c.3296T>C c.4747T>C (p.Ser1583Pro) c.4726T>C (p.Ser1576Pro) c.4633T>C (p.Ser1545Pro) c.3187T>C (p.Ser1063Pro) | |
| 8 | g.41933605A>T | CA371065309 | KAT6A | c.4615T>A (p.Ser1539Thr) c.4621T>A (p.Ser1541Thr) c.3296T>A c.4747T>A (p.Ser1583Thr) c.4726T>A (p.Ser1576Thr) c.4633T>A (p.Ser1545Thr) c.3187T>A (p.Ser1063Thr) | |
| 8 | g.41933606T>A | CA460783387 | KAT6A | c.4614A>T (p.Val1538=) c.4620A>T (p.Val1540=) c.3295A>T c.4746A>T (p.Val1582=) c.4725A>T (p.Val1575=) c.4632A>T (p.Val1544=) c.3186A>T (p.Val1062=) | |
| 8 | g.41933606T>C | CA460783389 | KAT6A | c.4614A>G (p.Val1538=) c.4620A>G (p.Val1540=) c.3295A>G c.4746A>G (p.Val1582=) c.4725A>G (p.Val1575=) c.4632A>G (p.Val1544=) c.3186A>G (p.Val1062=) | COSMIC |
| 8 | g.41933606T>G | CA460783390 | KAT6A | c.4614A>C (p.Val1538=) c.4620A>C (p.Val1540=) c.3295A>C c.4746A>C (p.Val1582=) c.4725A>C (p.Val1575=) c.4632A>C (p.Val1544=) c.3186A>C (p.Val1062=) | |
| 8 | g.41933607A>C | CA371065313 | KAT6A | c.4613T>G (p.Val1538Gly) c.4619T>G (p.Val1540Gly) c.3294T>G c.4745T>G (p.Val1582Gly) c.4724T>G (p.Val1575Gly) c.4631T>G (p.Val1544Gly) c.3185T>G (p.Val1062Gly) | |
| 8 | g.41933607A>G | CA371065315 | KAT6A | c.4613T>C (p.Val1538Ala) c.4619T>C (p.Val1540Ala) c.3294T>C c.4745T>C (p.Val1582Ala) c.4724T>C (p.Val1575Ala) c.4631T>C (p.Val1544Ala) c.3185T>C (p.Val1062Ala) | |
| 8 | g.41933607A>T | CA371065311 | KAT6A | c.4613T>A (p.Val1538Glu) c.4619T>A (p.Val1540Glu) c.3294T>A c.4745T>A (p.Val1582Glu) c.4724T>A (p.Val1575Glu) c.4631T>A (p.Val1544Glu) c.3185T>A (p.Val1062Glu) | |
| 8 | g.41933608C>A | CA371065318 | KAT6A | c.4612G>T (p.Val1538Leu) c.4618G>T (p.Val1540Leu) c.3293G>T c.4744G>T (p.Val1582Leu) c.4723G>T (p.Val1575Leu) c.4630G>T (p.Val1544Leu) c.3184G>T (p.Val1062Leu) | |
| 8 | g.41933608C= | CA1779195990 | KAT6A | c.4612G= (p.Val1538=) c.4618G= (p.Val1540=) c.3293G= c.4744G= (p.Val1582=) c.4723G= (p.Val1575=) c.4630G= (p.Val1544=) c.3184G= (p.Val1062=) | |
| 8 | g.41933608C>G | CA371065319 | KAT6A | c.4612G>C (p.Val1538Leu) c.4618G>C (p.Val1540Leu) c.3293G>C c.4744G>C (p.Val1582Leu) c.4723G>C (p.Val1575Leu) c.4630G>C (p.Val1544Leu) c.3184G>C (p.Val1062Leu) | |
| 8 | g.41933608C>T | CA4729448 | KAT6A | c.4612G>A (p.Val1538Ile) c.4618G>A (p.Val1540Ile) c.3293G>A c.4744G>A (p.Val1582Ile) c.4723G>A (p.Val1575Ile) c.4630G>A (p.Val1544Ile) c.3184G>A (p.Val1062Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933609G>A | CA4729449 | KAT6A | c.4611C>T (p.Ser1537=) c.4617C>T (p.Ser1539=) c.3292C>T c.4743C>T (p.Ser1581=) c.4722C>T (p.Ser1574=) c.4629C>T (p.Ser1543=) c.3183C>T (p.Ser1061=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933609G>C | CA460783394 | KAT6A | c.4611C>G (p.Ser1537=) c.4617C>G (p.Ser1539=) c.3292C>G c.4743C>G (p.Ser1581=) c.4722C>G (p.Ser1574=) c.4629C>G (p.Ser1543=) c.3183C>G (p.Ser1061=) | |
| 8 | g.41933609G= | CA1779195991 | KAT6A | c.4611C= (p.Ser1537=) c.4617C= (p.Ser1539=) c.3292C= c.4743C= (p.Ser1581=) c.4722C= (p.Ser1574=) c.4629C= (p.Ser1543=) c.3183C= (p.Ser1061=) | |
| 8 | g.41933609G>T | CA460783396 | KAT6A | c.4611C>A (p.Ser1537=) c.4617C>A (p.Ser1539=) c.3292C>A c.4743C>A (p.Ser1581=) c.4722C>A (p.Ser1574=) c.4629C>A (p.Ser1543=) c.3183C>A (p.Ser1061=) | |
| 8 | g.41933610G>A | CA371065326 | KAT6A | c.4610C>T (p.Ser1537Phe) c.4616C>T (p.Ser1539Phe) c.3291C>T c.4742C>T (p.Ser1581Phe) c.4721C>T (p.Ser1574Phe) c.4628C>T (p.Ser1543Phe) c.3182C>T (p.Ser1061Phe) | COSMIC |
| 8 | g.41933610G>C | CA371065327 | KAT6A | c.4610C>G (p.Ser1537Cys) c.4616C>G (p.Ser1539Cys) c.3291C>G c.4742C>G (p.Ser1581Cys) c.4721C>G (p.Ser1574Cys) c.4628C>G (p.Ser1543Cys) c.3182C>G (p.Ser1061Cys) | |
| 8 | g.41933610G>T | CA371065328 | KAT6A | c.4610C>A (p.Ser1537Tyr) c.4616C>A (p.Ser1539Tyr) c.3291C>A c.4742C>A (p.Ser1581Tyr) c.4721C>A (p.Ser1574Tyr) c.4628C>A (p.Ser1543Tyr) c.3182C>A (p.Ser1061Tyr) | |
| 8 | g.41933611A>C | CA371065331 | KAT6A | c.4609T>G (p.Ser1537Ala) c.4615T>G (p.Ser1539Ala) c.3290T>G c.4741T>G (p.Ser1581Ala) c.4720T>G (p.Ser1574Ala) c.4627T>G (p.Ser1543Ala) c.3181T>G (p.Ser1061Ala) | |
| 8 | g.41933611A>G | CA371065333 | KAT6A | c.4609T>C (p.Ser1537Pro) c.4615T>C (p.Ser1539Pro) c.3290T>C c.4741T>C (p.Ser1581Pro) c.4720T>C (p.Ser1574Pro) c.4627T>C (p.Ser1543Pro) c.3181T>C (p.Ser1061Pro) | |
| 8 | g.41933611A>T | CA371065335 | KAT6A | c.4609T>A (p.Ser1537Thr) c.4615T>A (p.Ser1539Thr) c.3290T>A c.4741T>A (p.Ser1581Thr) c.4720T>A (p.Ser1574Thr) c.4627T>A (p.Ser1543Thr) c.3181T>A (p.Ser1061Thr) | |
| 8 | g.41933612A>C | CA460783401 | KAT6A | c.4608T>G (p.Pro1536=) c.4614T>G (p.Pro1538=) c.3289T>G c.4740T>G (p.Pro1580=) c.4719T>G (p.Pro1573=) c.4626T>G (p.Pro1542=) c.3180T>G (p.Pro1060=) | |
| 8 | g.41933612A>G | CA460783404 | KAT6A | c.4608T>C (p.Pro1536=) c.4614T>C (p.Pro1538=) c.3289T>C c.4740T>C (p.Pro1580=) c.4719T>C (p.Pro1573=) c.4626T>C (p.Pro1542=) c.3180T>C (p.Pro1060=) | |
| 8 | g.41933612A>T | CA460783405 | KAT6A | c.4608T>A (p.Pro1536=) c.4614T>A (p.Pro1538=) c.3289T>A c.4740T>A (p.Pro1580=) c.4719T>A (p.Pro1573=) c.4626T>A (p.Pro1542=) c.3180T>A (p.Pro1060=) | |
| 8 | g.41933613G>A | CA371065338 | KAT6A | c.4607C>T (p.Pro1536Leu) c.4613C>T (p.Pro1538Leu) c.3288C>T c.4739C>T (p.Pro1580Leu) c.4718C>T (p.Pro1573Leu) c.4625C>T (p.Pro1542Leu) c.3179C>T (p.Pro1060Leu) | |
| 8 | g.41933613G>C | CA371065339 | KAT6A | c.4607C>G (p.Pro1536Arg) c.4613C>G (p.Pro1538Arg) c.3288C>G c.4739C>G (p.Pro1580Arg) c.4718C>G (p.Pro1573Arg) c.4625C>G (p.Pro1542Arg) c.3179C>G (p.Pro1060Arg) | |
| 8 | g.41933613G>T | CA371065341 | KAT6A | c.4607C>A (p.Pro1536His) c.4613C>A (p.Pro1538His) c.3288C>A c.4739C>A (p.Pro1580His) c.4718C>A (p.Pro1573His) c.4625C>A (p.Pro1542His) c.3179C>A (p.Pro1060His) | |
| 8 | g.41933614G>A | CA371065345 | KAT6A | c.4606C>T (p.Pro1536Ser) c.4612C>T (p.Pro1538Ser) c.3287C>T c.4738C>T (p.Pro1580Ser) c.4717C>T (p.Pro1573Ser) c.4624C>T (p.Pro1542Ser) c.3178C>T (p.Pro1060Ser) | COSMIC |
| 8 | g.41933614G>C | CA371065342 | KAT6A | c.4606C>G (p.Pro1536Ala) c.4612C>G (p.Pro1538Ala) c.3287C>G c.4738C>G (p.Pro1580Ala) c.4717C>G (p.Pro1573Ala) c.4624C>G (p.Pro1542Ala) c.3178C>G (p.Pro1060Ala) | |
| 8 | g.41933614G>T | CA371065343 | KAT6A | c.4606C>A (p.Pro1536Thr) c.4612C>A (p.Pro1538Thr) c.3287C>A c.4738C>A (p.Pro1580Thr) c.4717C>A (p.Pro1573Thr) c.4624C>A (p.Pro1542Thr) c.3178C>A (p.Pro1060Thr) | |
| 8 | g.41933615C>A | CA460783411 | KAT6A | c.4605G>T (p.Val1535=) c.4611G>T (p.Val1537=) c.3286G>T c.4737G>T (p.Val1579=) c.4716G>T (p.Val1572=) c.4623G>T (p.Val1541=) c.3177G>T (p.Val1059=) | |
| 8 | g.41933615C>G | CA460783410 | KAT6A | c.4605G>C (p.Val1535=) c.4611G>C (p.Val1537=) c.3286G>C c.4737G>C (p.Val1579=) c.4716G>C (p.Val1572=) c.4623G>C (p.Val1541=) c.3177G>C (p.Val1059=) | |
| 8 | g.41933615C>T | CA460783409 | KAT6A | c.4605G>A (p.Val1535=) c.4611G>A (p.Val1537=) c.3286G>A c.4737G>A (p.Val1579=) c.4716G>A (p.Val1572=) c.4623G>A (p.Val1541=) c.3177G>A (p.Val1059=) | |
| 8 | g.41933616A>C | CA371065347 | KAT6A | c.4604T>G (p.Val1535Gly) c.4610T>G (p.Val1537Gly) c.3285T>G c.4736T>G (p.Val1579Gly) c.4715T>G (p.Val1572Gly) c.4622T>G (p.Val1541Gly) c.3176T>G (p.Val1059Gly) | |
| 8 | g.41933616A>G | CA371065349 | KAT6A | c.4604T>C (p.Val1535Ala) c.4610T>C (p.Val1537Ala) c.3285T>C c.4736T>C (p.Val1579Ala) c.4715T>C (p.Val1572Ala) c.4622T>C (p.Val1541Ala) c.3176T>C (p.Val1059Ala) | |
| 8 | g.41933616A>T | CA371065351 | KAT6A | c.4604T>A (p.Val1535Glu) c.4610T>A (p.Val1537Glu) c.3285T>A c.4736T>A (p.Val1579Glu) c.4715T>A (p.Val1572Glu) c.4622T>A (p.Val1541Glu) c.3176T>A (p.Val1059Glu) | |
| 8 | g.41933617C>A | CA371065353 | KAT6A | c.4603G>T (p.Val1535Leu) c.4609G>T (p.Val1537Leu) c.3284G>T c.4735G>T (p.Val1579Leu) c.4714G>T (p.Val1572Leu) c.4621G>T (p.Val1541Leu) c.3175G>T (p.Val1059Leu) | gnomAD v4 |
| 8 | g.41933617C>G | CA371065355 | KAT6A | c.4603G>C (p.Val1535Leu) c.4609G>C (p.Val1537Leu) c.3284G>C c.4735G>C (p.Val1579Leu) c.4714G>C (p.Val1572Leu) c.4621G>C (p.Val1541Leu) c.3175G>C (p.Val1059Leu) | |
| 8 | g.41933617C>T | CA371065357 | KAT6A | c.4603G>A (p.Val1535Met) c.4609G>A (p.Val1537Met) c.3284G>A c.4735G>A (p.Val1579Met) c.4714G>A (p.Val1572Met) c.4621G>A (p.Val1541Met) c.3175G>A (p.Val1059Met) | |
| 8 | g.41933618A>C | CA371065359 | KAT6A | c.4602T>G (p.Asp1534Glu) c.4608T>G (p.Asp1536Glu) c.3283T>G c.4734T>G (p.Asp1578Glu) c.4713T>G (p.Asp1571Glu) c.4620T>G (p.Asp1540Glu) c.3174T>G (p.Asp1058Glu) | |
| 8 | g.41933618A>G | CA460783418 | KAT6A | c.4602T>C (p.Asp1534=) c.4608T>C (p.Asp1536=) c.3283T>C c.4734T>C (p.Asp1578=) c.4713T>C (p.Asp1571=) c.4620T>C (p.Asp1540=) c.3174T>C (p.Asp1058=) | |
| 8 | g.41933618A>T | CA371065362 | KAT6A | c.4602T>A (p.Asp1534Glu) c.4608T>A (p.Asp1536Glu) c.3283T>A c.4734T>A (p.Asp1578Glu) c.4713T>A (p.Asp1571Glu) c.4620T>A (p.Asp1540Glu) c.3174T>A (p.Asp1058Glu) | |
| 8 | g.41933619T>A | CA371065365 | KAT6A | c.4601A>T (p.Asp1534Val) c.4607A>T (p.Asp1536Val) c.3282A>T c.4733A>T (p.Asp1578Val) c.4712A>T (p.Asp1571Val) c.4619A>T (p.Asp1540Val) c.3173A>T (p.Asp1058Val) | |
| 8 | g.41933619T>C | CA371065367 | KAT6A | c.4601A>G (p.Asp1534Gly) c.4607A>G (p.Asp1536Gly) c.3282A>G c.4733A>G (p.Asp1578Gly) c.4712A>G (p.Asp1571Gly) c.4619A>G (p.Asp1540Gly) c.3173A>G (p.Asp1058Gly) | |
| 8 | g.41933619T>G | CA371065369 | KAT6A | c.4601A>C (p.Asp1534Ala) c.4607A>C (p.Asp1536Ala) c.3282A>C c.4733A>C (p.Asp1578Ala) c.4712A>C (p.Asp1571Ala) c.4619A>C (p.Asp1540Ala) c.3173A>C (p.Asp1058Ala) | |
| 8 | g.41933620C>A | CA371065371 | KAT6A | c.4600G>T (p.Asp1534Tyr) c.4606G>T (p.Asp1536Tyr) c.3281G>T c.4732G>T (p.Asp1578Tyr) c.4711G>T (p.Asp1571Tyr) c.4618G>T (p.Asp1540Tyr) c.3172G>T (p.Asp1058Tyr) | |
| 8 | g.41933620C>G | CA371065374 | KAT6A | c.4600G>C (p.Asp1534His) c.4606G>C (p.Asp1536His) c.3281G>C c.4732G>C (p.Asp1578His) c.4711G>C (p.Asp1571His) c.4618G>C (p.Asp1540His) c.3172G>C (p.Asp1058His) | |
| 8 | g.41933620C>T | CA371065372 | KAT6A | c.4600G>A (p.Asp1534Asn) c.4606G>A (p.Asp1536Asn) c.3281G>A c.4732G>A (p.Asp1578Asn) c.4711G>A (p.Asp1571Asn) c.4618G>A (p.Asp1540Asn) c.3172G>A (p.Asp1058Asn) | |
| 8 | g.41933621C>A | CA371065376 | KAT6A | c.4599G>T (p.Met1533Ile) c.4605G>T (p.Met1535Ile) c.3280G>T c.4731G>T (p.Met1577Ile) c.4710G>T (p.Met1570Ile) c.4617G>T (p.Met1539Ile) c.3171G>T (p.Met1057Ile) | |
| 8 | g.41933621C>G | CA371065382 | KAT6A | c.4599G>C (p.Met1533Ile) c.4605G>C (p.Met1535Ile) c.3280G>C c.4731G>C (p.Met1577Ile) c.4710G>C (p.Met1570Ile) c.4617G>C (p.Met1539Ile) c.3171G>C (p.Met1057Ile) | |
| 8 | g.41933621C>T | CA371065379 | KAT6A | c.4599G>A (p.Met1533Ile) c.4605G>A (p.Met1535Ile) c.3280G>A c.4731G>A (p.Met1577Ile) c.4710G>A (p.Met1570Ile) c.4617G>A (p.Met1539Ile) c.3171G>A (p.Met1057Ile) | gnomAD v4 |
| 8 | g.41933622A= | CA1779195992 | KAT6A | c.4598T= (p.Met1533=) c.4604T= (p.Met1535=) c.3279T= c.4730T= (p.Met1577=) c.4709T= (p.Met1570=) c.4616T= (p.Met1539=) c.3170T= (p.Met1057=) | |
| 8 | g.41933622A>C | CA371065384 | KAT6A | c.4598T>G (p.Met1533Arg) c.4604T>G (p.Met1535Arg) c.3279T>G c.4730T>G (p.Met1577Arg) c.4709T>G (p.Met1570Arg) c.4616T>G (p.Met1539Arg) c.3170T>G (p.Met1057Arg) | |
| 8 | g.41933622A>G | CA371065387 | KAT6A | c.4598T>C (p.Met1533Thr) c.4604T>C (p.Met1535Thr) c.3279T>C c.4730T>C (p.Met1577Thr) c.4709T>C (p.Met1570Thr) c.4616T>C (p.Met1539Thr) c.3170T>C (p.Met1057Thr) | ClinVar dbSNP |
| 8 | g.41933622A>T | CA371065389 | KAT6A | c.4598T>A (p.Met1533Lys) c.4604T>A (p.Met1535Lys) c.3279T>A c.4730T>A (p.Met1577Lys) c.4709T>A (p.Met1570Lys) c.4616T>A (p.Met1539Lys) c.3170T>A (p.Met1057Lys) | |
| 8 | g.41933623T>A | CA371065391 | KAT6A | c.4597A>T (p.Met1533Leu) c.4603A>T (p.Met1535Leu) c.3278A>T c.4729A>T (p.Met1577Leu) c.4708A>T (p.Met1570Leu) c.4615A>T (p.Met1539Leu) c.3169A>T (p.Met1057Leu) | |
| 8 | g.41933623T>C | CA371065393 | KAT6A | c.4597A>G (p.Met1533Val) c.4603A>G (p.Met1535Val) c.3278A>G c.4729A>G (p.Met1577Val) c.4708A>G (p.Met1570Val) c.4615A>G (p.Met1539Val) c.3169A>G (p.Met1057Val) | |
| 8 | g.41933623T>G | CA371065395 | KAT6A | c.4597A>C (p.Met1533Leu) c.4603A>C (p.Met1535Leu) c.3278A>C c.4729A>C (p.Met1577Leu) c.4708A>C (p.Met1570Leu) c.4615A>C (p.Met1539Leu) c.3169A>C (p.Met1057Leu) | |
| 8 | g.41933624C>A | CA371065401 | KAT6A | c.4596G>T (p.Met1532Ile) c.4602G>T (p.Met1534Ile) c.3277G>T c.4728G>T (p.Met1576Ile) c.4707G>T (p.Met1569Ile) c.4614G>T (p.Met1538Ile) c.3168G>T (p.Met1056Ile) | |
| 8 | g.41933624C>G | CA371065399 | KAT6A | c.4596G>C (p.Met1532Ile) c.4602G>C (p.Met1534Ile) c.3277G>C c.4728G>C (p.Met1576Ile) c.4707G>C (p.Met1569Ile) c.4614G>C (p.Met1538Ile) c.3168G>C (p.Met1056Ile) | |
| 8 | g.41933624C>T | CA371065397 | KAT6A | c.4596G>A (p.Met1532Ile) c.4602G>A (p.Met1534Ile) c.3277G>A c.4728G>A (p.Met1576Ile) c.4707G>A (p.Met1569Ile) c.4614G>A (p.Met1538Ile) c.3168G>A (p.Met1056Ile) | |
| 8 | g.41933625A>C | CA371065403 | KAT6A | c.4595T>G (p.Met1532Arg) c.4601T>G (p.Met1534Arg) c.3276T>G c.4727T>G (p.Met1576Arg) c.4706T>G (p.Met1569Arg) c.4613T>G (p.Met1538Arg) c.3167T>G (p.Met1056Arg) | |
| 8 | g.41933625A>G | CA371065406 | KAT6A | c.4595T>C (p.Met1532Thr) c.4601T>C (p.Met1534Thr) c.3276T>C c.4727T>C (p.Met1576Thr) c.4706T>C (p.Met1569Thr) c.4613T>C (p.Met1538Thr) c.3167T>C (p.Met1056Thr) | |
| 8 | g.41933625A>T | CA371065408 | KAT6A | c.4595T>A (p.Met1532Lys) c.4601T>A (p.Met1534Lys) c.3276T>A c.4727T>A (p.Met1576Lys) c.4706T>A (p.Met1569Lys) c.4613T>A (p.Met1538Lys) c.3167T>A (p.Met1056Lys) | |
| 8 | g.41933626T>A | CA371065411 | KAT6A | c.4594A>T (p.Met1532Leu) c.4600A>T (p.Met1534Leu) c.3275A>T c.4726A>T (p.Met1576Leu) c.4705A>T (p.Met1569Leu) c.4612A>T (p.Met1538Leu) c.3166A>T (p.Met1056Leu) | ClinVar dbSNP |
| 8 | g.41933626T>C | CA371065412 | KAT6A | c.4594A>G (p.Met1532Val) c.4600A>G (p.Met1534Val) c.3275A>G c.4726A>G (p.Met1576Val) c.4705A>G (p.Met1569Val) c.4612A>G (p.Met1538Val) c.3166A>G (p.Met1056Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933626T>G | CA371065414 | KAT6A | c.4594A>C (p.Met1532Leu) c.4600A>C (p.Met1534Leu) c.3275A>C c.4726A>C (p.Met1576Leu) c.4705A>C (p.Met1569Leu) c.4612A>C (p.Met1538Leu) c.3166A>C (p.Met1056Leu) | |
| 8 | g.41933626T= | CA1779195993 | KAT6A | c.4594A= (p.Met1532=) c.4600A= (p.Met1534=) c.3275A= c.4726A= (p.Met1576=) c.4705A= (p.Met1569=) c.4612A= (p.Met1538=) c.3166A= (p.Met1056=) | |
| 8 | g.41933627G>A | CA460783430 | KAT6A | c.4593C>T (p.Pro1531=) c.4599C>T (p.Pro1533=) c.3274C>T c.4725C>T (p.Pro1575=) c.4704C>T (p.Pro1568=) c.4611C>T (p.Pro1537=) c.3165C>T (p.Pro1055=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933627G>C | CA460783432 | KAT6A | c.4593C>G (p.Pro1531=) c.4599C>G (p.Pro1533=) c.3274C>G c.4725C>G (p.Pro1575=) c.4704C>G (p.Pro1568=) c.4611C>G (p.Pro1537=) c.3165C>G (p.Pro1055=) | |
| 8 | g.41933627G= | CA1779195994 | KAT6A | c.4593C= (p.Pro1531=) c.4599C= (p.Pro1533=) c.3274C= c.4725C= (p.Pro1575=) c.4704C= (p.Pro1568=) c.4611C= (p.Pro1537=) c.3165C= (p.Pro1055=) | |
| 8 | g.41933627G>T | CA460783433 | KAT6A | c.4593C>A (p.Pro1531=) c.4599C>A (p.Pro1533=) c.3274C>A c.4725C>A (p.Pro1575=) c.4704C>A (p.Pro1568=) c.4611C>A (p.Pro1537=) c.3165C>A (p.Pro1055=) | |
| 8 | g.41933628G>A | CA371065416 | KAT6A | c.4592C>T (p.Pro1531Leu) c.4598C>T (p.Pro1533Leu) c.3273C>T c.4724C>T (p.Pro1575Leu) c.4703C>T (p.Pro1568Leu) c.4610C>T (p.Pro1537Leu) c.3164C>T (p.Pro1055Leu) | COSMIC |
| 8 | g.41933628G>C | CA371065420 | KAT6A | c.4592C>G (p.Pro1531Arg) c.4598C>G (p.Pro1533Arg) c.3273C>G c.4724C>G (p.Pro1575Arg) c.4703C>G (p.Pro1568Arg) c.4610C>G (p.Pro1537Arg) c.3164C>G (p.Pro1055Arg) | ClinVar |
| 8 | g.41933628G>T | CA371065418 | KAT6A | c.4592C>A (p.Pro1531His) c.4598C>A (p.Pro1533His) c.3273C>A c.4724C>A (p.Pro1575His) c.4703C>A (p.Pro1568His) c.4610C>A (p.Pro1537His) c.3164C>A (p.Pro1055His) | |
| 8 | g.41933629G>A | CA371065422 | KAT6A | c.4591C>T (p.Pro1531Ser) c.4597C>T (p.Pro1533Ser) c.3272C>T c.4723C>T (p.Pro1575Ser) c.4702C>T (p.Pro1568Ser) c.4609C>T (p.Pro1537Ser) c.3163C>T (p.Pro1055Ser) | |
| 8 | g.41933629G>C | CA371065423 | KAT6A | c.4591C>G (p.Pro1531Ala) c.4597C>G (p.Pro1533Ala) c.3272C>G c.4723C>G (p.Pro1575Ala) c.4702C>G (p.Pro1568Ala) c.4609C>G (p.Pro1537Ala) c.3163C>G (p.Pro1055Ala) | |
| 8 | g.41933629G>T | CA371065424 | KAT6A | c.4591C>A (p.Pro1531Thr) c.4597C>A (p.Pro1533Thr) c.3272C>A c.4723C>A (p.Pro1575Thr) c.4702C>A (p.Pro1568Thr) c.4609C>A (p.Pro1537Thr) c.3163C>A (p.Pro1055Thr) | gnomAD v4 |
| 8 | g.41933630G>A | CA460783573 | KAT6A | c.4590C>T (p.Ser1530=) c.4596C>T (p.Ser1532=) c.3271C>T c.4722C>T (p.Ser1574=) c.4701C>T (p.Ser1567=) c.4608C>T (p.Ser1536=) c.3162C>T (p.Ser1054=) | |
| 8 | g.41933630G>C | CA371065427 | KAT6A | c.4590C>G (p.Ser1530Arg) c.4596C>G (p.Ser1532Arg) c.3271C>G c.4722C>G (p.Ser1574Arg) c.4701C>G (p.Ser1567Arg) c.4608C>G (p.Ser1536Arg) c.3162C>G (p.Ser1054Arg) | |
| 8 | g.41933630G>T | CA371065429 | KAT6A | c.4590C>A (p.Ser1530Arg) c.4596C>A (p.Ser1532Arg) c.3271C>A c.4722C>A (p.Ser1574Arg) c.4701C>A (p.Ser1567Arg) c.4608C>A (p.Ser1536Arg) c.3162C>A (p.Ser1054Arg) | |
| 8 | g.41933631C>A | CA371065431 | KAT6A | c.4589G>T (p.Ser1530Ile) c.4595G>T (p.Ser1532Ile) c.3270G>T c.4721G>T (p.Ser1574Ile) c.4700G>T (p.Ser1567Ile) c.4607G>T (p.Ser1536Ile) c.3161G>T (p.Ser1054Ile) | |
| 8 | g.41933631C>G | CA371065434 | KAT6A | c.4589G>C (p.Ser1530Thr) c.4595G>C (p.Ser1532Thr) c.3270G>C c.4721G>C (p.Ser1574Thr) c.4700G>C (p.Ser1567Thr) c.4607G>C (p.Ser1536Thr) c.3161G>C (p.Ser1054Thr) | |
| 8 | g.41933631C>T | CA371065436 | KAT6A | c.4589G>A (p.Ser1530Asn) c.4595G>A (p.Ser1532Asn) c.3270G>A c.4721G>A (p.Ser1574Asn) c.4700G>A (p.Ser1567Asn) c.4607G>A (p.Ser1536Asn) c.3161G>A (p.Ser1054Asn) | |
| 8 | g.41933632T>A | CA371065438 | KAT6A | c.4588A>T (p.Ser1530Cys) c.4594A>T (p.Ser1532Cys) c.3269A>T c.4720A>T (p.Ser1574Cys) c.4699A>T (p.Ser1567Cys) c.4606A>T (p.Ser1536Cys) c.3160A>T (p.Ser1054Cys) | |
| 8 | g.41933632T>C | CA371065440 | KAT6A | c.4588A>G (p.Ser1530Gly) c.4594A>G (p.Ser1532Gly) c.3269A>G c.4720A>G (p.Ser1574Gly) c.4699A>G (p.Ser1567Gly) c.4606A>G (p.Ser1536Gly) c.3160A>G (p.Ser1054Gly) | |
| 8 | g.41933632T>G | CA371065442 | KAT6A | c.4588A>C (p.Ser1530Arg) c.4594A>C (p.Ser1532Arg) c.3269A>C c.4720A>C (p.Ser1574Arg) c.4699A>C (p.Ser1567Arg) c.4606A>C (p.Ser1536Arg) c.3160A>C (p.Ser1054Arg) | |
| 8 | g.41933633G>A | CA460783574 | KAT6A | c.4587C>T (p.Thr1529=) c.4593C>T (p.Thr1531=) c.3268C>T c.4719C>T (p.Thr1573=) c.4698C>T (p.Thr1566=) c.4605C>T (p.Thr1535=) c.3159C>T (p.Thr1053=) | |
| 8 | g.41933633G>C | CA460783575 | KAT6A | c.4587C>G (p.Thr1529=) c.4593C>G (p.Thr1531=) c.3268C>G c.4719C>G (p.Thr1573=) c.4698C>G (p.Thr1566=) c.4605C>G (p.Thr1535=) c.3159C>G (p.Thr1053=) | |
| 8 | g.41933633G>T | CA460783576 | KAT6A | c.4587C>A (p.Thr1529=) c.4593C>A (p.Thr1531=) c.3268C>A c.4719C>A (p.Thr1573=) c.4698C>A (p.Thr1566=) c.4605C>A (p.Thr1535=) c.3159C>A (p.Thr1053=) | |
| 8 | g.41933634G>A | CA371065445 | KAT6A | c.4586C>T (p.Thr1529Ile) c.4592C>T (p.Thr1531Ile) c.3267C>T c.4718C>T (p.Thr1573Ile) c.4697C>T (p.Thr1566Ile) c.4604C>T (p.Thr1535Ile) c.3158C>T (p.Thr1053Ile) | dbSNP |
| 8 | g.41933634G>C | CA371065448 | KAT6A | c.4586C>G (p.Thr1529Ser) c.4592C>G (p.Thr1531Ser) c.3267C>G c.4718C>G (p.Thr1573Ser) c.4697C>G (p.Thr1566Ser) c.4604C>G (p.Thr1535Ser) c.3158C>G (p.Thr1053Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.41933634G= | CA1779195995 | KAT6A | c.4586C= (p.Thr1529=) c.4592C= (p.Thr1531=) c.3267C= c.4718C= (p.Thr1573=) c.4697C= (p.Thr1566=) c.4604C= (p.Thr1535=) c.3158C= (p.Thr1053=) | |
| 8 | g.41933634G>T | CA371065447 | KAT6A | c.4586C>A (p.Thr1529Asn) c.4592C>A (p.Thr1531Asn) c.3267C>A c.4718C>A (p.Thr1573Asn) c.4697C>A (p.Thr1566Asn) c.4604C>A (p.Thr1535Asn) c.3158C>A (p.Thr1053Asn) |