| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 8 | g.41933635T>A | CA371065450 | KAT6A | c.4585A>T (p.Thr1529Ser) c.4591A>T (p.Thr1531Ser) c.3266A>T c.4717A>T (p.Thr1573Ser) c.4696A>T (p.Thr1566Ser) c.4603A>T (p.Thr1535Ser) c.3157A>T (p.Thr1053Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933635T>C | CA371065452 | KAT6A | c.4585A>G (p.Thr1529Ala) c.4591A>G (p.Thr1531Ala) c.3266A>G c.4717A>G (p.Thr1573Ala) c.4696A>G (p.Thr1566Ala) c.4603A>G (p.Thr1535Ala) c.3157A>G (p.Thr1053Ala) | |
| 8 | g.41933635T>G | CA371065454 | KAT6A | c.4585A>C (p.Thr1529Pro) c.4591A>C (p.Thr1531Pro) c.3266A>C c.4717A>C (p.Thr1573Pro) c.4696A>C (p.Thr1566Pro) c.4603A>C (p.Thr1535Pro) c.3157A>C (p.Thr1053Pro) | |
| 8 | g.41933635T= | CA1779195996 | KAT6A | c.4585A= (p.Thr1529=) c.4591A= (p.Thr1531=) c.3266A= c.4717A= (p.Thr1573=) c.4696A= (p.Thr1566=) c.4603A= (p.Thr1535=) c.3157A= (p.Thr1053=) | |
| 8 | g.41933636C>A | CA371065457 | KAT6A | c.4584G>T (p.Glu1528Asp) c.4590G>T (p.Glu1530Asp) c.3265G>T c.4716G>T (p.Glu1572Asp) c.4695G>T (p.Glu1565Asp) c.4602G>T (p.Glu1534Asp) c.3156G>T (p.Glu1052Asp) | |
| 8 | g.41933636C= | CA1779195997 | KAT6A | c.4584G= (p.Glu1528=) c.4590G= (p.Glu1530=) c.3265G= c.4716G= (p.Glu1572=) c.4695G= (p.Glu1565=) c.4602G= (p.Glu1534=) c.3156G= (p.Glu1052=) | |
| 8 | g.41933636C>G | CA175939247 | KAT6A | c.4584G>C (p.Glu1528Asp) c.4590G>C (p.Glu1530Asp) c.3265G>C c.4716G>C (p.Glu1572Asp) c.4695G>C (p.Glu1565Asp) c.4602G>C (p.Glu1534Asp) c.3156G>C (p.Glu1052Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933636C>T | CA460783580 | KAT6A | c.4584G>A (p.Glu1528=) c.4590G>A (p.Glu1530=) c.3265G>A c.4716G>A (p.Glu1572=) c.4695G>A (p.Glu1565=) c.4602G>A (p.Glu1534=) c.3156G>A (p.Glu1052=) | |
| 8 | g.41933637T>A | CA371065461 | KAT6A | c.4583A>T (p.Glu1528Val) c.4589A>T (p.Glu1530Val) c.3264A>T c.4715A>T (p.Glu1572Val) c.4694A>T (p.Glu1565Val) c.4601A>T (p.Glu1534Val) c.3155A>T (p.Glu1052Val) | |
| 8 | g.41933637T>C | CA371065463 | KAT6A | c.4583A>G (p.Glu1528Gly) c.4589A>G (p.Glu1530Gly) c.3264A>G c.4715A>G (p.Glu1572Gly) c.4694A>G (p.Glu1565Gly) c.4601A>G (p.Glu1534Gly) c.3155A>G (p.Glu1052Gly) | |
| 8 | g.41933637T>G | CA371065465 | KAT6A | c.4583A>C (p.Glu1528Ala) c.4589A>C (p.Glu1530Ala) c.3264A>C c.4715A>C (p.Glu1572Ala) c.4694A>C (p.Glu1565Ala) c.4601A>C (p.Glu1534Ala) c.3155A>C (p.Glu1052Ala) | |
| 8 | g.41933638C>A | CA371065468 | KAT6A | c.4582G>T (p.Glu1528Ter) c.4588G>T (p.Glu1530Ter) c.3263G>T c.4714G>T (p.Glu1572Ter) c.4693G>T (p.Glu1565Ter) c.4600G>T (p.Glu1534Ter) c.3154G>T (p.Glu1052Ter) | |
| 8 | g.41933638C>G | CA371065470 | KAT6A | c.4582G>C (p.Glu1528Gln) c.4588G>C (p.Glu1530Gln) c.3263G>C c.4714G>C (p.Glu1572Gln) c.4693G>C (p.Glu1565Gln) c.4600G>C (p.Glu1534Gln) c.3154G>C (p.Glu1052Gln) | gnomAD v4 |
| 8 | g.41933638C>T | CA371065473 | KAT6A | c.4582G>A (p.Glu1528Lys) c.4588G>A (p.Glu1530Lys) c.3263G>A c.4714G>A (p.Glu1572Lys) c.4693G>A (p.Glu1565Lys) c.4600G>A (p.Glu1534Lys) c.3154G>A (p.Glu1052Lys) | |
| 8 | g.41933639C>A | CA371065479 | KAT6A | c.4581G>T (p.Met1527Ile) c.4587G>T (p.Met1529Ile) c.3262G>T c.4713G>T (p.Met1571Ile) c.4692G>T (p.Met1564Ile) c.4599G>T (p.Met1533Ile) c.3153G>T (p.Met1051Ile) | |
| 8 | g.41933639C>G | CA371065477 | KAT6A | c.4581G>C (p.Met1527Ile) c.4587G>C (p.Met1529Ile) c.3262G>C c.4713G>C (p.Met1571Ile) c.4692G>C (p.Met1564Ile) c.4599G>C (p.Met1533Ile) c.3153G>C (p.Met1051Ile) | |
| 8 | g.41933639C>T | CA371065475 | KAT6A | c.4581G>A (p.Met1527Ile) c.4587G>A (p.Met1529Ile) c.3262G>A c.4713G>A (p.Met1571Ile) c.4692G>A (p.Met1564Ile) c.4599G>A (p.Met1533Ile) c.3153G>A (p.Met1051Ile) | |
| 8 | g.41933640A>C | CA371065482 | KAT6A | c.4580T>G (p.Met1527Arg) c.4586T>G (p.Met1529Arg) c.3261T>G c.4712T>G (p.Met1571Arg) c.4691T>G (p.Met1564Arg) c.4598T>G (p.Met1533Arg) c.3152T>G (p.Met1051Arg) | |
| 8 | g.41933640A>G | CA371065483 | KAT6A | c.4580T>C (p.Met1527Thr) c.4586T>C (p.Met1529Thr) c.3261T>C c.4712T>C (p.Met1571Thr) c.4691T>C (p.Met1564Thr) c.4598T>C (p.Met1533Thr) c.3152T>C (p.Met1051Thr) | |
| 8 | g.41933640A>T | CA371065485 | KAT6A | c.4580T>A (p.Met1527Lys) c.4586T>A (p.Met1529Lys) c.3261T>A c.4712T>A (p.Met1571Lys) c.4691T>A (p.Met1564Lys) c.4598T>A (p.Met1533Lys) c.3152T>A (p.Met1051Lys) | |
| 8 | g.41933641T>A | CA371065488 | KAT6A | c.4579A>T (p.Met1527Leu) c.4585A>T (p.Met1529Leu) c.3260A>T c.4711A>T (p.Met1571Leu) c.4690A>T (p.Met1564Leu) c.4597A>T (p.Met1533Leu) c.3151A>T (p.Met1051Leu) | |
| 8 | g.41933641T>C | CA4729450 | KAT6A | c.4579A>G (p.Met1527Val) c.4585A>G (p.Met1529Val) c.3260A>G c.4711A>G (p.Met1571Val) c.4690A>G (p.Met1564Val) c.4597A>G (p.Met1533Val) c.3151A>G (p.Met1051Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.41933641T>G | CA371065491 | KAT6A | c.4579A>C (p.Met1527Leu) c.4585A>C (p.Met1529Leu) c.3260A>C c.4711A>C (p.Met1571Leu) c.4690A>C (p.Met1564Leu) c.4597A>C (p.Met1533Leu) c.3151A>C (p.Met1051Leu) | |
| 8 | g.41933641T= | CA1779195998 | KAT6A | c.4579A= (p.Met1527=) c.4585A= (p.Met1529=) c.3260A= c.4711A= (p.Met1571=) c.4690A= (p.Met1564=) c.4597A= (p.Met1533=) c.3151A= (p.Met1051=) | |
| 8 | g.41933642G>A | CA460783583 | KAT6A | c.4578C>T (p.Asn1526=) c.4584C>T (p.Asn1528=) c.3259C>T c.4710C>T (p.Asn1570=) c.4689C>T (p.Asn1563=) c.4596C>T (p.Asn1532=) c.3150C>T (p.Asn1050=) | |
| 8 | g.41933642G>C | CA371065493 | KAT6A | c.4578C>G (p.Asn1526Lys) c.4584C>G (p.Asn1528Lys) c.3259C>G c.4710C>G (p.Asn1570Lys) c.4689C>G (p.Asn1563Lys) c.4596C>G (p.Asn1532Lys) c.3150C>G (p.Asn1050Lys) | |
| 8 | g.41933642G>T | CA371065495 | KAT6A | c.4578C>A (p.Asn1526Lys) c.4584C>A (p.Asn1528Lys) c.3259C>A c.4710C>A (p.Asn1570Lys) c.4689C>A (p.Asn1563Lys) c.4596C>A (p.Asn1532Lys) c.3150C>A (p.Asn1050Lys) | |
| 8 | g.41933643T>A | CA371065497 | KAT6A | c.4577A>T (p.Asn1526Ile) c.4583A>T (p.Asn1528Ile) c.3258A>T c.4709A>T (p.Asn1570Ile) c.4688A>T (p.Asn1563Ile) c.4595A>T (p.Asn1532Ile) c.3149A>T (p.Asn1050Ile) | |
| 8 | g.41933643T>C | CA371065499 | KAT6A | c.4577A>G (p.Asn1526Ser) c.4583A>G (p.Asn1528Ser) c.3258A>G c.4709A>G (p.Asn1570Ser) c.4688A>G (p.Asn1563Ser) c.4595A>G (p.Asn1532Ser) c.3149A>G (p.Asn1050Ser) | |
| 8 | g.41933643T>G | CA371065501 | KAT6A | c.4577A>C (p.Asn1526Thr) c.4583A>C (p.Asn1528Thr) c.3258A>C c.4709A>C (p.Asn1570Thr) c.4688A>C (p.Asn1563Thr) c.4595A>C (p.Asn1532Thr) c.3149A>C (p.Asn1050Thr) | |
| 8 | g.41933644T>A | CA371065508 | KAT6A | c.4576A>T (p.Asn1526Tyr) c.4582A>T (p.Asn1528Tyr) c.3257A>T c.4708A>T (p.Asn1570Tyr) c.4687A>T (p.Asn1563Tyr) c.4594A>T (p.Asn1532Tyr) c.3148A>T (p.Asn1050Tyr) | |
| 8 | g.41933644T>C | CA371065506 | KAT6A | c.4576A>G (p.Asn1526Asp) c.4582A>G (p.Asn1528Asp) c.3257A>G c.4708A>G (p.Asn1570Asp) c.4687A>G (p.Asn1563Asp) c.4594A>G (p.Asn1532Asp) c.3148A>G (p.Asn1050Asp) | |
| 8 | g.41933644T>G | CA371065504 | KAT6A | c.4576A>C (p.Asn1526His) c.4582A>C (p.Asn1528His) c.3257A>C c.4708A>C (p.Asn1570His) c.4687A>C (p.Asn1563His) c.4594A>C (p.Asn1532His) c.3148A>C (p.Asn1050His) | COSMIC |
| 8 | g.41933645C>A | CA371065510 | KAT6A | c.4575G>T (p.Gln1525His) c.4581G>T (p.Gln1527His) c.3256G>T c.4707G>T (p.Gln1569His) c.4686G>T (p.Gln1562His) c.4593G>T (p.Gln1531His) c.3147G>T (p.Gln1049His) | |
| 8 | g.41933645C= | CA1779195999 | KAT6A | c.4575G= (p.Gln1525=) c.4581G= (p.Gln1527=) c.3256G= c.4707G= (p.Gln1569=) c.4686G= (p.Gln1562=) c.4593G= (p.Gln1531=) c.3147G= (p.Gln1049=) | |
| 8 | g.41933645C>G | CA371065512 | KAT6A | c.4575G>C (p.Gln1525His) c.4581G>C (p.Gln1527His) c.3256G>C c.4707G>C (p.Gln1569His) c.4686G>C (p.Gln1562His) c.4593G>C (p.Gln1531His) c.3147G>C (p.Gln1049His) | |
| 8 | g.41933645C>T | CA460783586 | KAT6A | c.4575G>A (p.Gln1525=) c.4581G>A (p.Gln1527=) c.3256G>A c.4707G>A (p.Gln1569=) c.4686G>A (p.Gln1562=) c.4593G>A (p.Gln1531=) c.3147G>A (p.Gln1049=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933646T>A | CA371065513 | KAT6A | c.4574A>T (p.Gln1525Leu) c.4580A>T (p.Gln1527Leu) c.3255A>T c.4706A>T (p.Gln1569Leu) c.4685A>T (p.Gln1562Leu) c.4592A>T (p.Gln1531Leu) c.3146A>T (p.Gln1049Leu) | |
| 8 | g.41933646T>C | CA4729451 | KAT6A | c.4574A>G (p.Gln1525Arg) c.4580A>G (p.Gln1527Arg) c.3255A>G c.4706A>G (p.Gln1569Arg) c.4685A>G (p.Gln1562Arg) c.4592A>G (p.Gln1531Arg) c.3146A>G (p.Gln1049Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933646T>G | CA371065515 | KAT6A | c.4574A>C (p.Gln1525Pro) c.4580A>C (p.Gln1527Pro) c.3255A>C c.4706A>C (p.Gln1569Pro) c.4685A>C (p.Gln1562Pro) c.4592A>C (p.Gln1531Pro) c.3146A>C (p.Gln1049Pro) | |
| 8 | g.41933646T= | CA1779196000 | KAT6A | c.4574A= (p.Gln1525=) c.4580A= (p.Gln1527=) c.3255A= c.4706A= (p.Gln1569=) c.4685A= (p.Gln1562=) c.4592A= (p.Gln1531=) c.3146A= (p.Gln1049=) | |
| 8 | g.41933647G>A | CA371065518 | KAT6A | c.4573C>T (p.Gln1525Ter) c.4579C>T (p.Gln1527Ter) c.3254C>T c.4705C>T (p.Gln1569Ter) c.4684C>T (p.Gln1562Ter) c.4591C>T (p.Gln1531Ter) c.3145C>T (p.Gln1049Ter) | |
| 8 | g.41933647G>C | CA371065520 | KAT6A | c.4573C>G (p.Gln1525Glu) c.4579C>G (p.Gln1527Glu) c.3254C>G c.4705C>G (p.Gln1569Glu) c.4684C>G (p.Gln1562Glu) c.4591C>G (p.Gln1531Glu) c.3145C>G (p.Gln1049Glu) | |
| 8 | g.41933647G>T | CA371065521 | KAT6A | c.4573C>A (p.Gln1525Lys) c.4579C>A (p.Gln1527Lys) c.3254C>A c.4705C>A (p.Gln1569Lys) c.4684C>A (p.Gln1562Lys) c.4591C>A (p.Gln1531Lys) c.3145C>A (p.Gln1049Lys) | |
| 8 | g.41933648C>A | CA371065524 | KAT6A | c.4572G>T (p.Met1524Ile) c.4578G>T (p.Met1526Ile) c.3253G>T c.4704G>T (p.Met1568Ile) c.4683G>T (p.Met1561Ile) c.4590G>T (p.Met1530Ile) c.3144G>T (p.Met1048Ile) | |
| 8 | g.41933648C>G | CA371065526 | KAT6A | c.4572G>C (p.Met1524Ile) c.4578G>C (p.Met1526Ile) c.3253G>C c.4704G>C (p.Met1568Ile) c.4683G>C (p.Met1561Ile) c.4590G>C (p.Met1530Ile) c.3144G>C (p.Met1048Ile) | |
| 8 | g.41933648C>T | CA371065528 | KAT6A | c.4572G>A (p.Met1524Ile) c.4578G>A (p.Met1526Ile) c.3253G>A c.4704G>A (p.Met1568Ile) c.4683G>A (p.Met1561Ile) c.4590G>A (p.Met1530Ile) c.3144G>A (p.Met1048Ile) | |
| 8 | g.41933649A>C | CA371065530 | KAT6A | c.4571T>G (p.Met1524Arg) c.4577T>G (p.Met1526Arg) c.3252T>G c.4703T>G (p.Met1568Arg) c.4682T>G (p.Met1561Arg) c.4589T>G (p.Met1530Arg) c.3143T>G (p.Met1048Arg) | |
| 8 | g.41933649A>G | CA371065532 | KAT6A | c.4571T>C (p.Met1524Thr) c.4577T>C (p.Met1526Thr) c.3252T>C c.4703T>C (p.Met1568Thr) c.4682T>C (p.Met1561Thr) c.4589T>C (p.Met1530Thr) c.3143T>C (p.Met1048Thr) | ClinVar gnomAD v4 |
| 8 | g.41933649A>T | CA371065534 | KAT6A | c.4571T>A (p.Met1524Lys) c.4577T>A (p.Met1526Lys) c.3252T>A c.4703T>A (p.Met1568Lys) c.4682T>A (p.Met1561Lys) c.4589T>A (p.Met1530Lys) c.3143T>A (p.Met1048Lys) | |
| 8 | g.41933650T>A | CA371065540 | KAT6A | c.4570A>T (p.Met1524Leu) c.4576A>T (p.Met1526Leu) c.3251A>T c.4702A>T (p.Met1568Leu) c.4681A>T (p.Met1561Leu) c.4588A>T (p.Met1530Leu) c.3142A>T (p.Met1048Leu) | |
| 8 | g.41933650T>C | CA371065538 | KAT6A | c.4570A>G (p.Met1524Val) c.4576A>G (p.Met1526Val) c.3251A>G c.4702A>G (p.Met1568Val) c.4681A>G (p.Met1561Val) c.4588A>G (p.Met1530Val) c.3142A>G (p.Met1048Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933650T>G | CA371065536 | KAT6A | c.4570A>C (p.Met1524Leu) c.4576A>C (p.Met1526Leu) c.3251A>C c.4702A>C (p.Met1568Leu) c.4681A>C (p.Met1561Leu) c.4588A>C (p.Met1530Leu) c.3142A>C (p.Met1048Leu) | |
| 8 | g.41933650T= | CA1779196001 | KAT6A | c.4570A= (p.Met1524=) c.4576A= (p.Met1526=) c.3251A= c.4702A= (p.Met1568=) c.4681A= (p.Met1561=) c.4588A= (p.Met1530=) c.3142A= (p.Met1048=) | |
| 8 | g.41933651A>C | CA460783594 | KAT6A | c.4569T>G (p.Ser1523=) c.4575T>G (p.Ser1525=) c.3250T>G c.4701T>G (p.Ser1567=) c.4680T>G (p.Ser1560=) c.4587T>G (p.Ser1529=) c.3141T>G (p.Ser1047=) | |
| 8 | g.41933651A>G | CA460783595 | KAT6A | c.4569T>C (p.Ser1523=) c.4575T>C (p.Ser1525=) c.3250T>C c.4701T>C (p.Ser1567=) c.4680T>C (p.Ser1560=) c.4587T>C (p.Ser1529=) c.3141T>C (p.Ser1047=) | |
| 8 | g.41933651A>T | CA460783596 | KAT6A | c.4569T>A (p.Ser1523=) c.4575T>A (p.Ser1525=) c.3250T>A c.4701T>A (p.Ser1567=) c.4680T>A (p.Ser1560=) c.4587T>A (p.Ser1529=) c.3141T>A (p.Ser1047=) | |
| 8 | g.41933651dup | CA2779855855 | KAT6A | c.4569dup (p.Met1524TyrfsTer29) c.4575dup (p.Met1526TyrfsTer29) c.3250dup c.4701dup (p.Met1568TyrfsTer29) c.4680dup (p.Met1561TyrfsTer29) c.4587dup (p.Met1530TyrfsTer29) c.3141dup (p.Met1048TyrfsTer29) | |
| 8 | g.41933652G>A | CA371065543 | KAT6A | c.4568C>T (p.Ser1523Phe) c.4574C>T (p.Ser1525Phe) c.3249C>T c.4700C>T (p.Ser1567Phe) c.4679C>T (p.Ser1560Phe) c.4586C>T (p.Ser1529Phe) c.3140C>T (p.Ser1047Phe) | |
| 8 | g.41933652G>C | CA371065545 | KAT6A | c.4568C>G (p.Ser1523Cys) c.4574C>G (p.Ser1525Cys) c.3249C>G c.4700C>G (p.Ser1567Cys) c.4679C>G (p.Ser1560Cys) c.4586C>G (p.Ser1529Cys) c.3140C>G (p.Ser1047Cys) | |
| 8 | g.41933652G>T | CA371065546 | KAT6A | c.4568C>A (p.Ser1523Tyr) c.4574C>A (p.Ser1525Tyr) c.3249C>A c.4700C>A (p.Ser1567Tyr) c.4679C>A (p.Ser1560Tyr) c.4586C>A (p.Ser1529Tyr) c.3140C>A (p.Ser1047Tyr) | |
| 8 | g.41933653A= | CA1779196002 | KAT6A | c.4567T= (p.Ser1523=) c.4573T= (p.Ser1525=) c.3248T= c.4699T= (p.Ser1567=) c.4678T= (p.Ser1560=) c.4585T= (p.Ser1529=) c.3139T= (p.Ser1047=) | |
| 8 | g.41933653A>C | CA4729452 | KAT6A | c.4567T>G (p.Ser1523Ala) c.4573T>G (p.Ser1525Ala) c.3248T>G c.4699T>G (p.Ser1567Ala) c.4678T>G (p.Ser1560Ala) c.4585T>G (p.Ser1529Ala) c.3139T>G (p.Ser1047Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933653A>G | CA371065547 | KAT6A | c.4567T>C (p.Ser1523Pro) c.4573T>C (p.Ser1525Pro) c.3248T>C c.4699T>C (p.Ser1567Pro) c.4678T>C (p.Ser1560Pro) c.4585T>C (p.Ser1529Pro) c.3139T>C (p.Ser1047Pro) | dbSNP |
| 8 | g.41933653A>T | CA371065548 | KAT6A | c.4567T>A (p.Ser1523Thr) c.4573T>A (p.Ser1525Thr) c.3248T>A c.4699T>A (p.Ser1567Thr) c.4678T>A (p.Ser1560Thr) c.4585T>A (p.Ser1529Thr) c.3139T>A (p.Ser1047Thr) | |
| 8 | g.41933654G>A | CA460783601 | KAT6A | c.4566C>T (p.Pro1522=) c.4572C>T (p.Pro1524=) c.3247C>T c.4698C>T (p.Pro1566=) c.4677C>T (p.Pro1559=) c.4584C>T (p.Pro1528=) c.3138C>T (p.Pro1046=) | dbSNP gnomAD v4 |
| 8 | g.41933654G>C | CA460783602 | KAT6A | c.4566C>G (p.Pro1522=) c.4572C>G (p.Pro1524=) c.3247C>G c.4698C>G (p.Pro1566=) c.4677C>G (p.Pro1559=) c.4584C>G (p.Pro1528=) c.3138C>G (p.Pro1046=) | |
| 8 | g.41933654G>T | CA460783603 | KAT6A | c.4566C>A (p.Pro1522=) c.4572C>A (p.Pro1524=) c.3247C>A c.4698C>A (p.Pro1566=) c.4677C>A (p.Pro1559=) c.4584C>A (p.Pro1528=) c.3138C>A (p.Pro1046=) | |
| 8 | g.41933655G>A | CA371065549 | KAT6A | c.4565C>T (p.Pro1522Leu) c.4571C>T (p.Pro1524Leu) c.3246C>T c.4697C>T (p.Pro1566Leu) c.4676C>T (p.Pro1559Leu) c.4583C>T (p.Pro1528Leu) c.3137C>T (p.Pro1046Leu) | |
| 8 | g.41933655G>C | CA371065550 | KAT6A | c.4565C>G (p.Pro1522Arg) c.4571C>G (p.Pro1524Arg) c.3246C>G c.4697C>G (p.Pro1566Arg) c.4676C>G (p.Pro1559Arg) c.4583C>G (p.Pro1528Arg) c.3137C>G (p.Pro1046Arg) | |
| 8 | g.41933655G>T | CA371065551 | KAT6A | c.4565C>A (p.Pro1522His) c.4571C>A (p.Pro1524His) c.3246C>A c.4697C>A (p.Pro1566His) c.4676C>A (p.Pro1559His) c.4583C>A (p.Pro1528His) c.3137C>A (p.Pro1046His) | |
| 8 | g.41933656G>A | CA371065552 | KAT6A | c.4564C>T (p.Pro1522Ser) c.4570C>T (p.Pro1524Ser) c.3245C>T c.4696C>T (p.Pro1566Ser) c.4675C>T (p.Pro1559Ser) c.4582C>T (p.Pro1528Ser) c.3136C>T (p.Pro1046Ser) | dbSNP |
| 8 | g.41933656G>C | CA371065553 | KAT6A | c.4564C>G (p.Pro1522Ala) c.4570C>G (p.Pro1524Ala) c.3245C>G c.4696C>G (p.Pro1566Ala) c.4675C>G (p.Pro1559Ala) c.4582C>G (p.Pro1528Ala) c.3136C>G (p.Pro1046Ala) | |
| 8 | g.41933656G= | CA1779196003 | KAT6A | c.4564C= (p.Pro1522=) c.4570C= (p.Pro1524=) c.3245C= c.4696C= (p.Pro1566=) c.4675C= (p.Pro1559=) c.4582C= (p.Pro1528=) c.3136C= (p.Pro1046=) | |
| 8 | g.41933656G>T | CA371065554 | KAT6A | c.4564C>A (p.Pro1522Thr) c.4570C>A (p.Pro1524Thr) c.3245C>A c.4696C>A (p.Pro1566Thr) c.4675C>A (p.Pro1559Thr) c.4582C>A (p.Pro1528Thr) c.3136C>A (p.Pro1046Thr) | |
| 8 | g.41933657T>A | CA460783607 | KAT6A | c.4563A>T (p.Ala1521=) c.4569A>T (p.Ala1523=) c.3244A>T c.4695A>T (p.Ala1565=) c.4674A>T (p.Ala1558=) c.4581A>T (p.Ala1527=) c.3135A>T (p.Ala1045=) | |
| 8 | g.41933657T>C | CA460783609 | KAT6A | c.4563A>G (p.Ala1521=) c.4569A>G (p.Ala1523=) c.3244A>G c.4695A>G (p.Ala1565=) c.4674A>G (p.Ala1558=) c.4581A>G (p.Ala1527=) c.3135A>G (p.Ala1045=) | dbSNP |
| 8 | g.41933657T>G | CA460783610 | KAT6A | c.4563A>C (p.Ala1521=) c.4569A>C (p.Ala1523=) c.3244A>C c.4695A>C (p.Ala1565=) c.4674A>C (p.Ala1558=) c.4581A>C (p.Ala1527=) c.3135A>C (p.Ala1045=) | dbSNP |
| 8 | g.41933657T= | CA1779196004 | KAT6A | c.4563A= (p.Ala1521=) c.4569A= (p.Ala1523=) c.3244A= c.4695A= (p.Ala1565=) c.4674A= (p.Ala1558=) c.4581A= (p.Ala1527=) c.3135A= (p.Ala1045=) | |
| 8 | g.41933658G>A | CA371065557 | KAT6A | c.4562C>T (p.Ala1521Val) c.4568C>T (p.Ala1523Val) c.3243C>T c.4694C>T (p.Ala1565Val) c.4673C>T (p.Ala1558Val) c.4580C>T (p.Ala1527Val) c.3134C>T (p.Ala1045Val) | |
| 8 | g.41933658G>C | CA371065556 | KAT6A | c.4562C>G (p.Ala1521Gly) c.4568C>G (p.Ala1523Gly) c.3243C>G c.4694C>G (p.Ala1565Gly) c.4673C>G (p.Ala1558Gly) c.4580C>G (p.Ala1527Gly) c.3134C>G (p.Ala1045Gly) | gnomAD v4 |
| 8 | g.41933658G>T | CA371065555 | KAT6A | c.4562C>A (p.Ala1521Glu) c.4568C>A (p.Ala1523Glu) c.3243C>A c.4694C>A (p.Ala1565Glu) c.4673C>A (p.Ala1558Glu) c.4580C>A (p.Ala1527Glu) c.3134C>A (p.Ala1045Glu) | |
| 8 | g.41933659C>A | CA371065558 | KAT6A | c.4561G>T (p.Ala1521Ser) c.4567G>T (p.Ala1523Ser) c.3242G>T c.4693G>T (p.Ala1565Ser) c.4672G>T (p.Ala1558Ser) c.4579G>T (p.Ala1527Ser) c.3133G>T (p.Ala1045Ser) | |
| 8 | g.41933659C= | CA1779196005 | KAT6A | c.4561G= (p.Ala1521=) c.4567G= (p.Ala1523=) c.3242G= c.4693G= (p.Ala1565=) c.4672G= (p.Ala1558=) c.4579G= (p.Ala1527=) c.3133G= (p.Ala1045=) | |
| 8 | g.41933659C>G | CA371065559 | KAT6A | c.4561G>C (p.Ala1521Pro) c.4567G>C (p.Ala1523Pro) c.3242G>C c.4693G>C (p.Ala1565Pro) c.4672G>C (p.Ala1558Pro) c.4579G>C (p.Ala1527Pro) c.3133G>C (p.Ala1045Pro) | |
| 8 | g.41933659C>T | CA4729453 | KAT6A | c.4561G>A (p.Ala1521Thr) c.4567G>A (p.Ala1523Thr) c.3242G>A c.4693G>A (p.Ala1565Thr) c.4672G>A (p.Ala1558Thr) c.4579G>A (p.Ala1527Thr) c.3133G>A (p.Ala1045Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933660G>A | CA4729454 | KAT6A | c.4560C>T (p.Ser1520=) c.4566C>T (p.Ser1522=) c.3241C>T c.4692C>T (p.Ser1564=) c.4671C>T (p.Ser1557=) c.4578C>T (p.Ser1526=) c.3132C>T (p.Ser1044=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933660G>C | CA460783613 | KAT6A | c.4560C>G (p.Ser1520=) c.4566C>G (p.Ser1522=) c.3241C>G c.4692C>G (p.Ser1564=) c.4671C>G (p.Ser1557=) c.4578C>G (p.Ser1526=) c.3132C>G (p.Ser1044=) | |
| 8 | g.41933660G= | CA1779196006 | KAT6A | c.4560C= (p.Ser1520=) c.4566C= (p.Ser1522=) c.3241C= c.4692C= (p.Ser1564=) c.4671C= (p.Ser1557=) c.4578C= (p.Ser1526=) c.3132C= (p.Ser1044=) | |
| 8 | g.41933660G>T | CA460783614 | KAT6A | c.4560C>A (p.Ser1520=) c.4566C>A (p.Ser1522=) c.3241C>A c.4692C>A (p.Ser1564=) c.4671C>A (p.Ser1557=) c.4578C>A (p.Ser1526=) c.3132C>A (p.Ser1044=) | |
| 8 | g.41933661G>A | CA371065560 | KAT6A | c.4559C>T (p.Ser1520Phe) c.4565C>T (p.Ser1522Phe) c.3240C>T c.4691C>T (p.Ser1564Phe) c.4670C>T (p.Ser1557Phe) c.4577C>T (p.Ser1526Phe) c.3131C>T (p.Ser1044Phe) | |
| 8 | g.41933661G>C | CA371065561 | KAT6A | c.4559C>G (p.Ser1520Cys) c.4565C>G (p.Ser1522Cys) c.3240C>G c.4691C>G (p.Ser1564Cys) c.4670C>G (p.Ser1557Cys) c.4577C>G (p.Ser1526Cys) c.3131C>G (p.Ser1044Cys) | |
| 8 | g.41933661G>T | CA371065562 | KAT6A | c.4559C>A (p.Ser1520Tyr) c.4565C>A (p.Ser1522Tyr) c.3240C>A c.4691C>A (p.Ser1564Tyr) c.4670C>A (p.Ser1557Tyr) c.4577C>A (p.Ser1526Tyr) c.3131C>A (p.Ser1044Tyr) | |
| 8 | g.41933662A>C | CA371065563 | KAT6A | c.4558T>G (p.Ser1520Ala) c.4564T>G (p.Ser1522Ala) c.3239T>G c.4690T>G (p.Ser1564Ala) c.4669T>G (p.Ser1557Ala) c.4576T>G (p.Ser1526Ala) c.3130T>G (p.Ser1044Ala) | |
| 8 | g.41933662A>G | CA371065564 | KAT6A | c.4558T>C (p.Ser1520Pro) c.4564T>C (p.Ser1522Pro) c.3239T>C c.4690T>C (p.Ser1564Pro) c.4669T>C (p.Ser1557Pro) c.4576T>C (p.Ser1526Pro) c.3130T>C (p.Ser1044Pro) | gnomAD v4 |
| 8 | g.41933662A>T | CA371065565 | KAT6A | c.4558T>A (p.Ser1520Thr) c.4564T>A (p.Ser1522Thr) c.3239T>A c.4690T>A (p.Ser1564Thr) c.4669T>A (p.Ser1557Thr) c.4576T>A (p.Ser1526Thr) c.3130T>A (p.Ser1044Thr) | |
| 8 | g.41933663C>A | CA460783618 | KAT6A | c.4557G>T (p.Leu1519=) c.4563G>T (p.Leu1521=) c.3238G>T c.4689G>T (p.Leu1563=) c.4668G>T (p.Leu1556=) c.4575G>T (p.Leu1525=) c.3129G>T (p.Leu1043=) | |
| 8 | g.41933663C= | CA1779196007 | KAT6A | c.4557G= (p.Leu1519=) c.4563G= (p.Leu1521=) c.3238G= c.4689G= (p.Leu1563=) c.4668G= (p.Leu1556=) c.4575G= (p.Leu1525=) c.3129G= (p.Leu1043=) | |
| 8 | g.41933663C>G | CA4729455 | KAT6A | c.4557G>C (p.Leu1519=) c.4563G>C (p.Leu1521=) c.3238G>C c.4689G>C (p.Leu1563=) c.4668G>C (p.Leu1556=) c.4575G>C (p.Leu1525=) c.3129G>C (p.Leu1043=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933663C>T | CA460783619 | KAT6A | c.4557G>A (p.Leu1519=) c.4563G>A (p.Leu1521=) c.3238G>A c.4689G>A (p.Leu1563=) c.4668G>A (p.Leu1556=) c.4575G>A (p.Leu1525=) c.3129G>A (p.Leu1043=) | gnomAD v4 |
| 8 | g.41933664A>C | CA371065566 | KAT6A | c.4556T>G (p.Leu1519Arg) c.4562T>G (p.Leu1521Arg) c.3237T>G c.4688T>G (p.Leu1563Arg) c.4667T>G (p.Leu1556Arg) c.4574T>G (p.Leu1525Arg) c.3128T>G (p.Leu1043Arg) | |
| 8 | g.41933664A>G | CA371065567 | KAT6A | c.4556T>C (p.Leu1519Pro) c.4562T>C (p.Leu1521Pro) c.3237T>C c.4688T>C (p.Leu1563Pro) c.4667T>C (p.Leu1556Pro) c.4574T>C (p.Leu1525Pro) c.3128T>C (p.Leu1043Pro) | |
| 8 | g.41933664A>T | CA371065568 | KAT6A | c.4556T>A (p.Leu1519Gln) c.4562T>A (p.Leu1521Gln) c.3237T>A c.4688T>A (p.Leu1563Gln) c.4667T>A (p.Leu1556Gln) c.4574T>A (p.Leu1525Gln) c.3128T>A (p.Leu1043Gln) | |
| 8 | g.41933665G>A | CA460783621 | KAT6A | c.4555C>T (p.Leu1519=) c.4561C>T (p.Leu1521=) c.3236C>T c.4687C>T (p.Leu1563=) c.4666C>T (p.Leu1556=) c.4573C>T (p.Leu1525=) c.3127C>T (p.Leu1043=) | gnomAD v4 |
| 8 | g.41933665G>C | CA371065569 | KAT6A | c.4555C>G (p.Leu1519Val) c.4561C>G (p.Leu1521Val) c.3236C>G c.4687C>G (p.Leu1563Val) c.4666C>G (p.Leu1556Val) c.4573C>G (p.Leu1525Val) c.3127C>G (p.Leu1043Val) | |
| 8 | g.41933665G>T | CA371065570 | KAT6A | c.4555C>A (p.Leu1519Met) c.4561C>A (p.Leu1521Met) c.3236C>A c.4687C>A (p.Leu1563Met) c.4666C>A (p.Leu1556Met) c.4573C>A (p.Leu1525Met) c.3127C>A (p.Leu1043Met) | |
| 8 | g.41933666G>A | CA460783624 | KAT6A | c.4554C>T (p.Ser1518=) c.4560C>T (p.Ser1520=) c.3235C>T c.4686C>T (p.Ser1562=) c.4665C>T (p.Ser1555=) c.4572C>T (p.Ser1524=) c.3126C>T (p.Ser1042=) | |
| 8 | g.41933666G>C | CA460783625 | KAT6A | c.4554C>G (p.Ser1518=) c.4560C>G (p.Ser1520=) c.3235C>G c.4686C>G (p.Ser1562=) c.4665C>G (p.Ser1555=) c.4572C>G (p.Ser1524=) c.3126C>G (p.Ser1042=) | dbSNP gnomAD v4 |
| 8 | g.41933666G= | CA1779196008 | KAT6A | c.4554C= (p.Ser1518=) c.4560C= (p.Ser1520=) c.3235C= c.4686C= (p.Ser1562=) c.4665C= (p.Ser1555=) c.4572C= (p.Ser1524=) c.3126C= (p.Ser1042=) | |
| 8 | g.41933666G>T | CA460783627 | KAT6A | c.4554C>A (p.Ser1518=) c.4560C>A (p.Ser1520=) c.3235C>A c.4686C>A (p.Ser1562=) c.4665C>A (p.Ser1555=) c.4572C>A (p.Ser1524=) c.3126C>A (p.Ser1042=) | gnomAD v4 |
| 8 | g.41933667G>A | CA371065571 | KAT6A | c.4553C>T (p.Ser1518Phe) c.4559C>T (p.Ser1520Phe) c.3234C>T c.4685C>T (p.Ser1562Phe) c.4664C>T (p.Ser1555Phe) c.4571C>T (p.Ser1524Phe) c.3125C>T (p.Ser1042Phe) | |
| 8 | g.41933667G>C | CA371065572 | KAT6A | c.4553C>G (p.Ser1518Cys) c.4559C>G (p.Ser1520Cys) c.3234C>G c.4685C>G (p.Ser1562Cys) c.4664C>G (p.Ser1555Cys) c.4571C>G (p.Ser1524Cys) c.3125C>G (p.Ser1042Cys) | |
| 8 | g.41933667G>T | CA371065573 | KAT6A | c.4553C>A (p.Ser1518Tyr) c.4559C>A (p.Ser1520Tyr) c.3234C>A c.4685C>A (p.Ser1562Tyr) c.4664C>A (p.Ser1555Tyr) c.4571C>A (p.Ser1524Tyr) c.3125C>A (p.Ser1042Tyr) | |
| 8 | g.41933668A= | CA1779196009 | KAT6A | c.4552T= (p.Ser1518=) c.4558T= (p.Ser1520=) c.3233T= c.4684T= (p.Ser1562=) c.4663T= (p.Ser1555=) c.4570T= (p.Ser1524=) c.3124T= (p.Ser1042=) | |
| 8 | g.41933668A>C | CA371065574 | KAT6A | c.4552T>G (p.Ser1518Ala) c.4558T>G (p.Ser1520Ala) c.3233T>G c.4684T>G (p.Ser1562Ala) c.4663T>G (p.Ser1555Ala) c.4570T>G (p.Ser1524Ala) c.3124T>G (p.Ser1042Ala) | |
| 8 | g.41933668A>G | CA371065575 | KAT6A | c.4552T>C (p.Ser1518Pro) c.4558T>C (p.Ser1520Pro) c.3233T>C c.4684T>C (p.Ser1562Pro) c.4663T>C (p.Ser1555Pro) c.4570T>C (p.Ser1524Pro) c.3124T>C (p.Ser1042Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933668A>T | CA371065576 | KAT6A | c.4552T>A (p.Ser1518Thr) c.4558T>A (p.Ser1520Thr) c.3233T>A c.4684T>A (p.Ser1562Thr) c.4663T>A (p.Ser1555Thr) c.4570T>A (p.Ser1524Thr) c.3124T>A (p.Ser1042Thr) | |
| 8 | g.41933669T>A | CA460783631 | KAT6A | c.4551A>T (p.Gly1517=) c.4557A>T (p.Gly1519=) c.3232A>T c.4683A>T (p.Gly1561=) c.4662A>T (p.Gly1554=) c.4569A>T (p.Gly1523=) c.3123A>T (p.Gly1041=) | |
| 8 | g.41933669T>C | CA460783634 | KAT6A | c.4551A>G (p.Gly1517=) c.4557A>G (p.Gly1519=) c.3232A>G c.4683A>G (p.Gly1561=) c.4662A>G (p.Gly1554=) c.4569A>G (p.Gly1523=) c.3123A>G (p.Gly1041=) | |
| 8 | g.41933669T>G | CA460783633 | KAT6A | c.4551A>C (p.Gly1517=) c.4557A>C (p.Gly1519=) c.3232A>C c.4683A>C (p.Gly1561=) c.4662A>C (p.Gly1554=) c.4569A>C (p.Gly1523=) c.3123A>C (p.Gly1041=) | |
| 8 | g.41933670C>A | CA371065577 | KAT6A | c.4550G>T (p.Gly1517Val) c.4556G>T (p.Gly1519Val) c.3231G>T c.4682G>T (p.Gly1561Val) c.4661G>T (p.Gly1554Val) c.4568G>T (p.Gly1523Val) c.3122G>T (p.Gly1041Val) | ClinVar |
| 8 | g.41933670C>G | CA371065578 | KAT6A | c.4550G>C (p.Gly1517Ala) c.4556G>C (p.Gly1519Ala) c.3231G>C c.4682G>C (p.Gly1561Ala) c.4661G>C (p.Gly1554Ala) c.4568G>C (p.Gly1523Ala) c.3122G>C (p.Gly1041Ala) | |
| 8 | g.41933670C>T | CA371065579 | KAT6A | c.4550G>A (p.Gly1517Glu) c.4556G>A (p.Gly1519Glu) c.3231G>A c.4682G>A (p.Gly1561Glu) c.4661G>A (p.Gly1554Glu) c.4568G>A (p.Gly1523Glu) c.3122G>A (p.Gly1041Glu) | gnomAD v4 |
| 8 | g.41933671C>A | CA371065580 | KAT6A | c.4549G>T (p.Gly1517Ter) c.4555G>T (p.Gly1519Ter) c.3230G>T c.4681G>T (p.Gly1561Ter) c.4660G>T (p.Gly1554Ter) c.4567G>T (p.Gly1523Ter) c.3121G>T (p.Gly1041Ter) | |
| 8 | g.41933671C= | CA1779196010 | KAT6A | c.4549G= (p.Gly1517=) c.4555G= (p.Gly1519=) c.3230G= c.4681G= (p.Gly1561=) c.4660G= (p.Gly1554=) c.4567G= (p.Gly1523=) c.3121G= (p.Gly1041=) | |
| 8 | g.41933671C>G | CA371065581 | KAT6A | c.4549G>C (p.Gly1517Arg) c.4555G>C (p.Gly1519Arg) c.3230G>C c.4681G>C (p.Gly1561Arg) c.4660G>C (p.Gly1554Arg) c.4567G>C (p.Gly1523Arg) c.3121G>C (p.Gly1041Arg) | |
| 8 | g.41933671C>T | CA371065582 | KAT6A | c.4549G>A (p.Gly1517Arg) c.4555G>A (p.Gly1519Arg) c.3230G>A c.4681G>A (p.Gly1561Arg) c.4660G>A (p.Gly1554Arg) c.4567G>A (p.Gly1523Arg) c.3121G>A (p.Gly1041Arg) | dbSNP |
| 8 | g.41933672T>A | CA371065584 | KAT6A | c.4548A>T (p.Gln1516His) c.4554A>T (p.Gln1518His) c.3229A>T c.4680A>T (p.Gln1560His) c.4659A>T (p.Gln1553His) c.4566A>T (p.Gln1522His) c.3120A>T (p.Gln1040His) | |
| 8 | g.41933672T>C | CA4729456 | KAT6A | c.4548A>G (p.Gln1516=) c.4554A>G (p.Gln1518=) c.3229A>G c.4680A>G (p.Gln1560=) c.4659A>G (p.Gln1553=) c.4566A>G (p.Gln1522=) c.3120A>G (p.Gln1040=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933672T>G | CA371065583 | KAT6A | c.4548A>C (p.Gln1516His) c.4554A>C (p.Gln1518His) c.3229A>C c.4680A>C (p.Gln1560His) c.4659A>C (p.Gln1553His) c.4566A>C (p.Gln1522His) c.3120A>C (p.Gln1040His) | |
| 8 | g.41933672T= | CA1779196011 | KAT6A | c.4548A= (p.Gln1516=) c.4554A= (p.Gln1518=) c.3229A= c.4680A= (p.Gln1560=) c.4659A= (p.Gln1553=) c.4566A= (p.Gln1522=) c.3120A= (p.Gln1040=) | |
| 8 | g.41933673T>A | CA371065585 | KAT6A | c.4547A>T (p.Gln1516Leu) c.4553A>T (p.Gln1518Leu) c.3228A>T c.4679A>T (p.Gln1560Leu) c.4658A>T (p.Gln1553Leu) c.4565A>T (p.Gln1522Leu) c.3119A>T (p.Gln1040Leu) | |
| 8 | g.41933673T>C | CA4729457 | KAT6A | c.4547A>G (p.Gln1516Arg) c.4553A>G (p.Gln1518Arg) c.3228A>G c.4679A>G (p.Gln1560Arg) c.4658A>G (p.Gln1553Arg) c.4565A>G (p.Gln1522Arg) c.3119A>G (p.Gln1040Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933673T>G | CA371065586 | KAT6A | c.4547A>C (p.Gln1516Pro) c.4553A>C (p.Gln1518Pro) c.3228A>C c.4679A>C (p.Gln1560Pro) c.4658A>C (p.Gln1553Pro) c.4565A>C (p.Gln1522Pro) c.3119A>C (p.Gln1040Pro) | |
| 8 | g.41933673T= | CA1779196012 | KAT6A | c.4547A= (p.Gln1516=) c.4553A= (p.Gln1518=) c.3228A= c.4679A= (p.Gln1560=) c.4658A= (p.Gln1553=) c.4565A= (p.Gln1522=) c.3119A= (p.Gln1040=) | |
| 8 | g.41933674G>A | CA371065587 | KAT6A | c.4546C>T (p.Gln1516Ter) c.4552C>T (p.Gln1518Ter) c.3227C>T c.4678C>T (p.Gln1560Ter) c.4657C>T (p.Gln1553Ter) c.4564C>T (p.Gln1522Ter) c.3118C>T (p.Gln1040Ter) | |
| 8 | g.41933674G>C | CA371065589 | KAT6A | c.4546C>G (p.Gln1516Glu) c.4552C>G (p.Gln1518Glu) c.3227C>G c.4678C>G (p.Gln1560Glu) c.4657C>G (p.Gln1553Glu) c.4564C>G (p.Gln1522Glu) c.3118C>G (p.Gln1040Glu) | gnomAD v4 |
| 8 | g.41933674G>T | CA371065588 | KAT6A | c.4546C>A (p.Gln1516Lys) c.4552C>A (p.Gln1518Lys) c.3227C>A c.4678C>A (p.Gln1560Lys) c.4657C>A (p.Gln1553Lys) c.4564C>A (p.Gln1522Lys) c.3118C>A (p.Gln1040Lys) | |
| 8 | g.41933675T>A | CA371065590 | KAT6A | c.4545A>T (p.Glu1515Asp) c.4551A>T (p.Glu1517Asp) c.3226A>T c.4677A>T (p.Glu1559Asp) c.4656A>T (p.Glu1552Asp) c.4563A>T (p.Glu1521Asp) c.3117A>T (p.Glu1039Asp) | |
| 8 | g.41933675T>C | CA460783646 | KAT6A | c.4545A>G (p.Glu1515=) c.4551A>G (p.Glu1517=) c.3226A>G c.4677A>G (p.Glu1559=) c.4656A>G (p.Glu1552=) c.4563A>G (p.Glu1521=) c.3117A>G (p.Glu1039=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933675T>G | CA371065591 | KAT6A | c.4545A>C (p.Glu1515Asp) c.4551A>C (p.Glu1517Asp) c.3226A>C c.4677A>C (p.Glu1559Asp) c.4656A>C (p.Glu1552Asp) c.4563A>C (p.Glu1521Asp) c.3117A>C (p.Glu1039Asp) | |
| 8 | g.41933675T= | CA1779196013 | KAT6A | c.4545A= (p.Glu1515=) c.4551A= (p.Glu1517=) c.3226A= c.4677A= (p.Glu1559=) c.4656A= (p.Glu1552=) c.4563A= (p.Glu1521=) c.3117A= (p.Glu1039=) | |
| 8 | g.41933676T>A | CA371065592 | KAT6A | c.4544A>T (p.Glu1515Val) c.4550A>T (p.Glu1517Val) c.3225A>T c.4676A>T (p.Glu1559Val) c.4655A>T (p.Glu1552Val) c.4562A>T (p.Glu1521Val) c.3116A>T (p.Glu1039Val) | |
| 8 | g.41933676T>C | CA371065593 | KAT6A | c.4544A>G (p.Glu1515Gly) c.4550A>G (p.Glu1517Gly) c.3225A>G c.4676A>G (p.Glu1559Gly) c.4655A>G (p.Glu1552Gly) c.4562A>G (p.Glu1521Gly) c.3116A>G (p.Glu1039Gly) | gnomAD v4 |
| 8 | g.41933676T>G | CA371065594 | KAT6A | c.4544A>C (p.Glu1515Ala) c.4550A>C (p.Glu1517Ala) c.3225A>C c.4676A>C (p.Glu1559Ala) c.4655A>C (p.Glu1552Ala) c.4562A>C (p.Glu1521Ala) c.3116A>C (p.Glu1039Ala) | gnomAD v4 |
| 8 | g.41933677C>A | CA371065595 | KAT6A | c.4543G>T (p.Glu1515Ter) c.4549G>T (p.Glu1517Ter) c.3224G>T c.4675G>T (p.Glu1559Ter) c.4654G>T (p.Glu1552Ter) c.4561G>T (p.Glu1521Ter) c.3115G>T (p.Glu1039Ter) | |
| 8 | g.41933677C= | CA1779196014 | KAT6A | c.4543G= (p.Glu1515=) c.4549G= (p.Glu1517=) c.3224G= c.4675G= (p.Glu1559=) c.4654G= (p.Glu1552=) c.4561G= (p.Glu1521=) c.3115G= (p.Glu1039=) | |
| 8 | g.41933677C>G | CA4729458 | KAT6A | c.4543G>C (p.Glu1515Gln) c.4549G>C (p.Glu1517Gln) c.3224G>C c.4675G>C (p.Glu1559Gln) c.4654G>C (p.Glu1552Gln) c.4561G>C (p.Glu1521Gln) c.3115G>C (p.Glu1039Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933677C>T | CA371065596 | KAT6A | c.4543G>A (p.Glu1515Lys) c.4549G>A (p.Glu1517Lys) c.3224G>A c.4675G>A (p.Glu1559Lys) c.4654G>A (p.Glu1552Lys) c.4561G>A (p.Glu1521Lys) c.3115G>A (p.Glu1039Lys) | |
| 8 | g.41933678T>A | CA460783651 | KAT6A | c.4542A>T (p.Pro1514=) c.4548A>T (p.Pro1516=) c.3223A>T c.4674A>T (p.Pro1558=) c.4653A>T (p.Pro1551=) c.4560A>T (p.Pro1520=) c.3114A>T (p.Pro1038=) | |
| 8 | g.41933678T>C | CA460783652 | KAT6A | c.4542A>G (p.Pro1514=) c.4548A>G (p.Pro1516=) c.3223A>G c.4674A>G (p.Pro1558=) c.4653A>G (p.Pro1551=) c.4560A>G (p.Pro1520=) c.3114A>G (p.Pro1038=) | |
| 8 | g.41933678T>G | CA460783653 | KAT6A | c.4542A>C (p.Pro1514=) c.4548A>C (p.Pro1516=) c.3223A>C c.4674A>C (p.Pro1558=) c.4653A>C (p.Pro1551=) c.4560A>C (p.Pro1520=) c.3114A>C (p.Pro1038=) | |
| 8 | g.41933679G>A | CA371065597 | KAT6A | c.4541C>T (p.Pro1514Leu) c.4547C>T (p.Pro1516Leu) c.3222C>T c.4673C>T (p.Pro1558Leu) c.4652C>T (p.Pro1551Leu) c.4559C>T (p.Pro1520Leu) c.3113C>T (p.Pro1038Leu) | gnomAD v4 |
| 8 | g.41933679G>C | CA371065598 | KAT6A | c.4541C>G (p.Pro1514Arg) c.4547C>G (p.Pro1516Arg) c.3222C>G c.4673C>G (p.Pro1558Arg) c.4652C>G (p.Pro1551Arg) c.4559C>G (p.Pro1520Arg) c.3113C>G (p.Pro1038Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933679G= | CA1779196015 | KAT6A | c.4541C= (p.Pro1514=) c.4547C= (p.Pro1516=) c.3222C= c.4673C= (p.Pro1558=) c.4652C= (p.Pro1551=) c.4559C= (p.Pro1520=) c.3113C= (p.Pro1038=) | |
| 8 | g.41933679G>T | CA371065599 | KAT6A | c.4541C>A (p.Pro1514Gln) c.4547C>A (p.Pro1516Gln) c.3222C>A c.4673C>A (p.Pro1558Gln) c.4652C>A (p.Pro1551Gln) c.4559C>A (p.Pro1520Gln) c.3113C>A (p.Pro1038Gln) | |
| 8 | g.41933680G>A | CA371065602 | KAT6A | c.4540C>T (p.Pro1514Ser) c.4546C>T (p.Pro1516Ser) c.3221C>T c.4672C>T (p.Pro1558Ser) c.4651C>T (p.Pro1551Ser) c.4558C>T (p.Pro1520Ser) c.3112C>T (p.Pro1038Ser) | |
| 8 | g.41933680G>C | CA371065601 | KAT6A | c.4540C>G (p.Pro1514Ala) c.4546C>G (p.Pro1516Ala) c.3221C>G c.4672C>G (p.Pro1558Ala) c.4651C>G (p.Pro1551Ala) c.4558C>G (p.Pro1520Ala) c.3112C>G (p.Pro1038Ala) | |
| 8 | g.41933680G>T | CA371065600 | KAT6A | c.4540C>A (p.Pro1514Thr) c.4546C>A (p.Pro1516Thr) c.3221C>A c.4672C>A (p.Pro1558Thr) c.4651C>A (p.Pro1551Thr) c.4558C>A (p.Pro1520Thr) c.3112C>A (p.Pro1038Thr) | |
| 8 | g.41933681G>A | CA460783664 | KAT6A | c.4539C>T (p.Ser1513=) c.4545C>T (p.Ser1515=) c.3220C>T c.4671C>T (p.Ser1557=) c.4650C>T (p.Ser1550=) c.4557C>T (p.Ser1519=) c.3111C>T (p.Ser1037=) | |
| 8 | g.41933681G>C | CA371065603 | KAT6A | c.4539C>G (p.Ser1513Arg) c.4545C>G (p.Ser1515Arg) c.3220C>G c.4671C>G (p.Ser1557Arg) c.4650C>G (p.Ser1550Arg) c.4557C>G (p.Ser1519Arg) c.3111C>G (p.Ser1037Arg) | |
| 8 | g.41933681G>T | CA371065604 | KAT6A | c.4539C>A (p.Ser1513Arg) c.4545C>A (p.Ser1515Arg) c.3220C>A c.4671C>A (p.Ser1557Arg) c.4650C>A (p.Ser1550Arg) c.4557C>A (p.Ser1519Arg) c.3111C>A (p.Ser1037Arg) | |
| 8 | g.41933682C>A | CA371065605 | KAT6A | c.4538G>T (p.Ser1513Ile) c.4544G>T (p.Ser1515Ile) c.3219G>T c.4670G>T (p.Ser1557Ile) c.4649G>T (p.Ser1550Ile) c.4556G>T (p.Ser1519Ile) c.3110G>T (p.Ser1037Ile) | |
| 8 | g.41933682C>G | CA371065606 | KAT6A | c.4538G>C (p.Ser1513Thr) c.4544G>C (p.Ser1515Thr) c.3219G>C c.4670G>C (p.Ser1557Thr) c.4649G>C (p.Ser1550Thr) c.4556G>C (p.Ser1519Thr) c.3110G>C (p.Ser1037Thr) | |
| 8 | g.41933682C>T | CA371065607 | KAT6A | c.4538G>A (p.Ser1513Asn) c.4544G>A (p.Ser1515Asn) c.3219G>A c.4670G>A (p.Ser1557Asn) c.4649G>A (p.Ser1550Asn) c.4556G>A (p.Ser1519Asn) c.3110G>A (p.Ser1037Asn) | |
| 8 | g.41933683T>A | CA371065608 | KAT6A | c.4537A>T (p.Ser1513Cys) c.4543A>T (p.Ser1515Cys) c.3218A>T c.4669A>T (p.Ser1557Cys) c.4648A>T (p.Ser1550Cys) c.4555A>T (p.Ser1519Cys) c.3109A>T (p.Ser1037Cys) | |
| 8 | g.41933683T>C | CA371065609 | KAT6A | c.4537A>G (p.Ser1513Gly) c.4543A>G (p.Ser1515Gly) c.3218A>G c.4669A>G (p.Ser1557Gly) c.4648A>G (p.Ser1550Gly) c.4555A>G (p.Ser1519Gly) c.3109A>G (p.Ser1037Gly) | |
| 8 | g.41933683T>G | CA371065610 | KAT6A | c.4537A>C (p.Ser1513Arg) c.4543A>C (p.Ser1515Arg) c.3218A>C c.4669A>C (p.Ser1557Arg) c.4648A>C (p.Ser1550Arg) c.4555A>C (p.Ser1519Arg) c.3109A>C (p.Ser1037Arg) | |
| 8 | g.41933684G>A | CA460783678 | KAT6A | c.4536C>T (p.Ile1512=) c.4542C>T (p.Ile1514=) c.3217C>T c.4668C>T (p.Ile1556=) c.4647C>T (p.Ile1549=) c.4554C>T (p.Ile1518=) c.3108C>T (p.Ile1036=) | |
| 8 | g.41933684G>C | CA371065611 | KAT6A | c.4536C>G (p.Ile1512Met) c.4542C>G (p.Ile1514Met) c.3217C>G c.4668C>G (p.Ile1556Met) c.4647C>G (p.Ile1549Met) c.4554C>G (p.Ile1518Met) c.3108C>G (p.Ile1036Met) | |
| 8 | g.41933684G>T | CA460783679 | KAT6A | c.4536C>A (p.Ile1512=) c.4542C>A (p.Ile1514=) c.3217C>A c.4668C>A (p.Ile1556=) c.4647C>A (p.Ile1549=) c.4554C>A (p.Ile1518=) c.3108C>A (p.Ile1036=) | |
| 8 | g.41933685A>C | CA371065612 | KAT6A | c.4535T>G (p.Ile1512Ser) c.4541T>G (p.Ile1514Ser) c.3216T>G c.4667T>G (p.Ile1556Ser) c.4646T>G (p.Ile1549Ser) c.4553T>G (p.Ile1518Ser) c.3107T>G (p.Ile1036Ser) | |
| 8 | g.41933685A>G | CA371065613 | KAT6A | c.4535T>C (p.Ile1512Thr) c.4541T>C (p.Ile1514Thr) c.3216T>C c.4667T>C (p.Ile1556Thr) c.4646T>C (p.Ile1549Thr) c.4553T>C (p.Ile1518Thr) c.3107T>C (p.Ile1036Thr) | |
| 8 | g.41933685A>T | CA371065614 | KAT6A | c.4535T>A (p.Ile1512Asn) c.4541T>A (p.Ile1514Asn) c.3216T>A c.4667T>A (p.Ile1556Asn) c.4646T>A (p.Ile1549Asn) c.4553T>A (p.Ile1518Asn) c.3107T>A (p.Ile1036Asn) | |
| 8 | g.41933686T>A | CA371065617 | KAT6A | c.4534A>T (p.Ile1512Phe) c.4540A>T (p.Ile1514Phe) c.3215A>T c.4666A>T (p.Ile1556Phe) c.4645A>T (p.Ile1549Phe) c.4552A>T (p.Ile1518Phe) c.3106A>T (p.Ile1036Phe) | |
| 8 | g.41933686T>C | CA371065616 | KAT6A | c.4534A>G (p.Ile1512Val) c.4540A>G (p.Ile1514Val) c.3215A>G c.4666A>G (p.Ile1556Val) c.4645A>G (p.Ile1549Val) c.4552A>G (p.Ile1518Val) c.3106A>G (p.Ile1036Val) | |
| 8 | g.41933686T>G | CA371065615 | KAT6A | c.4534A>C (p.Ile1512Leu) c.4540A>C (p.Ile1514Leu) c.3215A>C c.4666A>C (p.Ile1556Leu) c.4645A>C (p.Ile1549Leu) c.4552A>C (p.Ile1518Leu) c.3106A>C (p.Ile1036Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933686T= | CA1779196016 | KAT6A | c.4534A= (p.Ile1512=) c.4540A= (p.Ile1514=) c.3215A= c.4666A= (p.Ile1556=) c.4645A= (p.Ile1549=) c.4552A= (p.Ile1518=) c.3106A= (p.Ile1036=) | |
| 8 | g.41933687C>A | CA371065618 | KAT6A | c.4533G>T (p.Gln1511His) c.4539G>T (p.Gln1513His) c.3214G>T c.4665G>T (p.Gln1555His) c.4644G>T (p.Gln1548His) c.4551G>T (p.Gln1517His) c.3105G>T (p.Gln1035His) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933687C= | CA1779196017 | KAT6A | c.4533G= (p.Gln1511=) c.4539G= (p.Gln1513=) c.3214G= c.4665G= (p.Gln1555=) c.4644G= (p.Gln1548=) c.4551G= (p.Gln1517=) c.3105G= (p.Gln1035=) | |
| 8 | g.41933687C>G | CA4729459 | KAT6A | c.4533G>C (p.Gln1511His) c.4539G>C (p.Gln1513His) c.3214G>C c.4665G>C (p.Gln1555His) c.4644G>C (p.Gln1548His) c.4551G>C (p.Gln1517His) c.3105G>C (p.Gln1035His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933687C>T | CA460783680 | KAT6A | c.4533G>A (p.Gln1511=) c.4539G>A (p.Gln1513=) c.3214G>A c.4665G>A (p.Gln1555=) c.4644G>A (p.Gln1548=) c.4551G>A (p.Gln1517=) c.3105G>A (p.Gln1035=) | |
| 8 | g.41933688T>A | CA371065619 | KAT6A | c.4532A>T (p.Gln1511Leu) c.4538A>T (p.Gln1513Leu) c.3213A>T c.4664A>T (p.Gln1555Leu) c.4643A>T (p.Gln1548Leu) c.4550A>T (p.Gln1517Leu) c.3104A>T (p.Gln1035Leu) | COSMIC |
| 8 | g.41933688T>C | CA371065620 | KAT6A | c.4532A>G (p.Gln1511Arg) c.4538A>G (p.Gln1513Arg) c.3213A>G c.4664A>G (p.Gln1555Arg) c.4643A>G (p.Gln1548Arg) c.4550A>G (p.Gln1517Arg) c.3104A>G (p.Gln1035Arg) | |
| 8 | g.41933688T>G | CA371065621 | KAT6A | c.4532A>C (p.Gln1511Pro) c.4538A>C (p.Gln1513Pro) c.3213A>C c.4664A>C (p.Gln1555Pro) c.4643A>C (p.Gln1548Pro) c.4550A>C (p.Gln1517Pro) c.3104A>C (p.Gln1035Pro) | |
| 8 | g.41933689G>A | CA371065622 | KAT6A | c.4531C>T (p.Gln1511Ter) c.4537C>T (p.Gln1513Ter) c.3212C>T c.4663C>T (p.Gln1555Ter) c.4642C>T (p.Gln1548Ter) c.4549C>T (p.Gln1517Ter) c.3103C>T (p.Gln1035Ter) | |
| 8 | g.41933689G>C | CA371065623 | KAT6A | c.4531C>G (p.Gln1511Glu) c.4537C>G (p.Gln1513Glu) c.3212C>G c.4663C>G (p.Gln1555Glu) c.4642C>G (p.Gln1548Glu) c.4549C>G (p.Gln1517Glu) c.3103C>G (p.Gln1035Glu) | |
| 8 | g.41933689G>T | CA371065624 | KAT6A | c.4531C>A (p.Gln1511Lys) c.4537C>A (p.Gln1513Lys) c.3212C>A c.4663C>A (p.Gln1555Lys) c.4642C>A (p.Gln1548Lys) c.4549C>A (p.Gln1517Lys) c.3103C>A (p.Gln1035Lys) |