| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41933475G>A | CA371064734 | KAT6A | c.4745C>T (p.Ser1582Phe) c.4751C>T (p.Ser1584Phe) c.3426C>T c.4877C>T (p.Ser1626Phe) c.4856C>T (p.Ser1619Phe) c.4763C>T (p.Ser1588Phe) c.3317C>T (p.Ser1106Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933475G>C | CA371064733 | KAT6A | c.4745C>G (p.Ser1582Cys) c.4751C>G (p.Ser1584Cys) c.3426C>G c.4877C>G (p.Ser1626Cys) c.4856C>G (p.Ser1619Cys) c.4763C>G (p.Ser1588Cys) c.3317C>G (p.Ser1106Cys) | gnomAD v4 |
| 8 | g.41933475G= | CA1779195953 | KAT6A | c.4745C= (p.Ser1582=) c.4751C= (p.Ser1584=) c.3426C= c.4877C= (p.Ser1626=) c.4856C= (p.Ser1619=) c.4763C= (p.Ser1588=) c.3317C= (p.Ser1106=) | |
| 8 | g.41933475G>T | CA371064732 | KAT6A | c.4745C>A (p.Ser1582Tyr) c.4751C>A (p.Ser1584Tyr) c.3426C>A c.4877C>A (p.Ser1626Tyr) c.4856C>A (p.Ser1619Tyr) c.4763C>A (p.Ser1588Tyr) c.3317C>A (p.Ser1106Tyr) | |
| 8 | g.41933476A>C | CA371064735 | KAT6A | c.4744T>G (p.Ser1582Ala) c.4750T>G (p.Ser1584Ala) c.3425T>G c.4876T>G (p.Ser1626Ala) c.4855T>G (p.Ser1619Ala) c.4762T>G (p.Ser1588Ala) c.3316T>G (p.Ser1106Ala) | |
| 8 | g.41933476A>G | CA371064736 | KAT6A | c.4744T>C (p.Ser1582Pro) c.4750T>C (p.Ser1584Pro) c.3425T>C c.4876T>C (p.Ser1626Pro) c.4855T>C (p.Ser1619Pro) c.4762T>C (p.Ser1588Pro) c.3316T>C (p.Ser1106Pro) | |
| 8 | g.41933476A>T | CA371064737 | KAT6A | c.4744T>A (p.Ser1582Thr) c.4750T>A (p.Ser1584Thr) c.3425T>A c.4876T>A (p.Ser1626Thr) c.4855T>A (p.Ser1619Thr) c.4762T>A (p.Ser1588Thr) c.3316T>A (p.Ser1106Thr) | |
| 8 | g.41933477G>A | CA460783832 | KAT6A | c.4743C>T (p.Ser1581=) c.4749C>T (p.Ser1583=) c.3424C>T c.4875C>T (p.Ser1625=) c.4854C>T (p.Ser1618=) c.4761C>T (p.Ser1587=) c.3315C>T (p.Ser1105=) | gnomAD v4 |
| 8 | g.41933477G>C | CA371064738 | KAT6A | c.4743C>G (p.Ser1581Arg) c.4749C>G (p.Ser1583Arg) c.3424C>G c.4875C>G (p.Ser1625Arg) c.4854C>G (p.Ser1618Arg) c.4761C>G (p.Ser1587Arg) c.3315C>G (p.Ser1105Arg) | |
| 8 | g.41933477G>T | CA371064739 | KAT6A | c.4743C>A (p.Ser1581Arg) c.4749C>A (p.Ser1583Arg) c.3424C>A c.4875C>A (p.Ser1625Arg) c.4854C>A (p.Ser1618Arg) c.4761C>A (p.Ser1587Arg) c.3315C>A (p.Ser1105Arg) | |
| 8 | g.41933478C>A | CA371064740 | KAT6A | c.4742G>T (p.Ser1581Ile) c.4748G>T (p.Ser1583Ile) c.3423G>T c.4874G>T (p.Ser1625Ile) c.4853G>T (p.Ser1618Ile) c.4760G>T (p.Ser1587Ile) c.3314G>T (p.Ser1105Ile) | |
| 8 | g.41933478C= | CA1779195954 | KAT6A | c.4742G= (p.Ser1581=) c.4748G= (p.Ser1583=) c.3423G= c.4874G= (p.Ser1625=) c.4853G= (p.Ser1618=) c.4760G= (p.Ser1587=) c.3314G= (p.Ser1105=) | |
| 8 | g.41933478C>G | CA371064741 | KAT6A | c.4742G>C (p.Ser1581Thr) c.4748G>C (p.Ser1583Thr) c.3423G>C c.4874G>C (p.Ser1625Thr) c.4853G>C (p.Ser1618Thr) c.4760G>C (p.Ser1587Thr) c.3314G>C (p.Ser1105Thr) | ClinVar |
| 8 | g.41933478C>T | CA371064742 | KAT6A | c.4742G>A (p.Ser1581Asn) c.4748G>A (p.Ser1583Asn) c.3423G>A c.4874G>A (p.Ser1625Asn) c.4853G>A (p.Ser1618Asn) c.4760G>A (p.Ser1587Asn) c.3314G>A (p.Ser1105Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.41933479T>A | CA371064743 | KAT6A | c.4741A>T (p.Ser1581Cys) c.4747A>T (p.Ser1583Cys) c.3422A>T c.4873A>T (p.Ser1625Cys) c.4852A>T (p.Ser1618Cys) c.4759A>T (p.Ser1587Cys) c.3313A>T (p.Ser1105Cys) | |
| 8 | g.41933479T>C | CA371064744 | KAT6A | c.4741A>G (p.Ser1581Gly) c.4747A>G (p.Ser1583Gly) c.3422A>G c.4873A>G (p.Ser1625Gly) c.4852A>G (p.Ser1618Gly) c.4759A>G (p.Ser1587Gly) c.3313A>G (p.Ser1105Gly) | |
| 8 | g.41933479T>G | CA371064745 | KAT6A | c.4741A>C (p.Ser1581Arg) c.4747A>C (p.Ser1583Arg) c.3422A>C c.4873A>C (p.Ser1625Arg) c.4852A>C (p.Ser1618Arg) c.4759A>C (p.Ser1587Arg) c.3313A>C (p.Ser1105Arg) | gnomAD v4 |
| 8 | g.41933480G>A | CA4729435 | KAT6A | c.4740C>T (p.Asn1580=) c.4746C>T (p.Asn1582=) c.3421C>T c.4872C>T (p.Asn1624=) c.4851C>T (p.Asn1617=) c.4758C>T (p.Asn1586=) c.3312C>T (p.Asn1104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933480G>C | CA371064747 | KAT6A | c.4740C>G (p.Asn1580Lys) c.4746C>G (p.Asn1582Lys) c.3421C>G c.4872C>G (p.Asn1624Lys) c.4851C>G (p.Asn1617Lys) c.4758C>G (p.Asn1586Lys) c.3312C>G (p.Asn1104Lys) | |
| 8 | g.41933480G= | CA1779195955 | KAT6A | c.4740C= (p.Asn1580=) c.4746C= (p.Asn1582=) c.3421C= c.4872C= (p.Asn1624=) c.4851C= (p.Asn1617=) c.4758C= (p.Asn1586=) c.3312C= (p.Asn1104=) | |
| 8 | g.41933480G>T | CA371064746 | KAT6A | c.4740C>A (p.Asn1580Lys) c.4746C>A (p.Asn1582Lys) c.3421C>A c.4872C>A (p.Asn1624Lys) c.4851C>A (p.Asn1617Lys) c.4758C>A (p.Asn1586Lys) c.3312C>A (p.Asn1104Lys) | |
| 8 | g.41933481T>A | CA371064748 | KAT6A | c.4739A>T (p.Asn1580Ile) c.4745A>T (p.Asn1582Ile) c.3420A>T c.4871A>T (p.Asn1624Ile) c.4850A>T (p.Asn1617Ile) c.4757A>T (p.Asn1586Ile) c.3311A>T (p.Asn1104Ile) | |
| 8 | g.41933481T>C | CA371064749 | KAT6A | c.4739A>G (p.Asn1580Ser) c.4745A>G (p.Asn1582Ser) c.3420A>G c.4871A>G (p.Asn1624Ser) c.4850A>G (p.Asn1617Ser) c.4757A>G (p.Asn1586Ser) c.3311A>G (p.Asn1104Ser) | |
| 8 | g.41933481T>G | CA371064750 | KAT6A | c.4739A>C (p.Asn1580Thr) c.4745A>C (p.Asn1582Thr) c.3420A>C c.4871A>C (p.Asn1624Thr) c.4850A>C (p.Asn1617Thr) c.4757A>C (p.Asn1586Thr) c.3311A>C (p.Asn1104Thr) | |
| 8 | g.41933482T>A | CA371064751 | KAT6A | c.4738A>T (p.Asn1580Tyr) c.4744A>T (p.Asn1582Tyr) c.3419A>T c.4870A>T (p.Asn1624Tyr) c.4849A>T (p.Asn1617Tyr) c.4756A>T (p.Asn1586Tyr) c.3310A>T (p.Asn1104Tyr) | |
| 8 | g.41933482T>C | CA371064752 | KAT6A | c.4738A>G (p.Asn1580Asp) c.4744A>G (p.Asn1582Asp) c.3419A>G c.4870A>G (p.Asn1624Asp) c.4849A>G (p.Asn1617Asp) c.4756A>G (p.Asn1586Asp) c.3310A>G (p.Asn1104Asp) | |
| 8 | g.41933482T>G | CA371064753 | KAT6A | c.4738A>C (p.Asn1580His) c.4744A>C (p.Asn1582His) c.3419A>C c.4870A>C (p.Asn1624His) c.4849A>C (p.Asn1617His) c.4756A>C (p.Asn1586His) c.3310A>C (p.Asn1104His) | |
| 8 | g.41933483C>A | CA460783840 | KAT6A | c.4737G>T (p.Gly1579=) c.4743G>T (p.Gly1581=) c.3418G>T c.4869G>T (p.Gly1623=) c.4848G>T (p.Gly1616=) c.4755G>T (p.Gly1585=) c.3309G>T (p.Gly1103=) | gnomAD v4 |
| 8 | g.41933483C= | CA1779195956 | KAT6A | c.4737G= (p.Gly1579=) c.4743G= (p.Gly1581=) c.3418G= c.4869G= (p.Gly1623=) c.4848G= (p.Gly1616=) c.4755G= (p.Gly1585=) c.3309G= (p.Gly1103=) | |
| 8 | g.41933483C>G | CA175939173 | KAT6A | c.4737G>C (p.Gly1579=) c.4743G>C (p.Gly1581=) c.3418G>C c.4869G>C (p.Gly1623=) c.4848G>C (p.Gly1616=) c.4755G>C (p.Gly1585=) c.3309G>C (p.Gly1103=) | dbSNP gnomAD v4 |
| 8 | g.41933483C>T | CA460783842 | KAT6A | c.4737G>A (p.Gly1579=) c.4743G>A (p.Gly1581=) c.3418G>A c.4869G>A (p.Gly1623=) c.4848G>A (p.Gly1616=) c.4755G>A (p.Gly1585=) c.3309G>A (p.Gly1103=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933484C>A | CA371064754 | KAT6A | c.4736G>T (p.Gly1579Val) c.4742G>T (p.Gly1581Val) c.3417G>T c.4868G>T (p.Gly1623Val) c.4847G>T (p.Gly1616Val) c.4754G>T (p.Gly1585Val) c.3308G>T (p.Gly1103Val) | |
| 8 | g.41933484C>G | CA371064755 | KAT6A | c.4736G>C (p.Gly1579Ala) c.4742G>C (p.Gly1581Ala) c.3417G>C c.4868G>C (p.Gly1623Ala) c.4847G>C (p.Gly1616Ala) c.4754G>C (p.Gly1585Ala) c.3308G>C (p.Gly1103Ala) | |
| 8 | g.41933484C>T | CA371064756 | KAT6A | c.4736G>A (p.Gly1579Glu) c.4742G>A (p.Gly1581Glu) c.3417G>A c.4868G>A (p.Gly1623Glu) c.4847G>A (p.Gly1616Glu) c.4754G>A (p.Gly1585Glu) c.3308G>A (p.Gly1103Glu) | gnomAD v4 COSMIC |
| 8 | g.41933485C>A | CA371064757 | KAT6A | c.4735G>T (p.Gly1579Trp) c.4741G>T (p.Gly1581Trp) c.3416G>T c.4867G>T (p.Gly1623Trp) c.4846G>T (p.Gly1616Trp) c.4753G>T (p.Gly1585Trp) c.3307G>T (p.Gly1103Trp) | |
| 8 | g.41933485C>G | CA371064758 | KAT6A | c.4735G>C (p.Gly1579Arg) c.4741G>C (p.Gly1581Arg) c.3416G>C c.4867G>C (p.Gly1623Arg) c.4846G>C (p.Gly1616Arg) c.4753G>C (p.Gly1585Arg) c.3307G>C (p.Gly1103Arg) | |
| 8 | g.41933485C>T | CA371064759 | KAT6A | c.4735G>A (p.Gly1579Arg) c.4741G>A (p.Gly1581Arg) c.3416G>A c.4867G>A (p.Gly1623Arg) c.4846G>A (p.Gly1616Arg) c.4753G>A (p.Gly1585Arg) c.3307G>A (p.Gly1103Arg) | |
| 8 | g.41933486A>C | CA371064761 | KAT6A | c.4734T>G (p.Cys1578Trp) c.4740T>G (p.Cys1580Trp) c.3415T>G c.4866T>G (p.Cys1622Trp) c.4845T>G (p.Cys1615Trp) c.4752T>G (p.Cys1584Trp) c.3306T>G (p.Cys1102Trp) | |
| 8 | g.41933486A>G | CA460783845 | KAT6A | c.4734T>C (p.Cys1578=) c.4740T>C (p.Cys1580=) c.3415T>C c.4866T>C (p.Cys1622=) c.4845T>C (p.Cys1615=) c.4752T>C (p.Cys1584=) c.3306T>C (p.Cys1102=) | |
| 8 | g.41933486A>T | CA371064760 | KAT6A | c.4734T>A (p.Cys1578Ter) c.4740T>A (p.Cys1580Ter) c.3415T>A c.4866T>A (p.Cys1622Ter) c.4845T>A (p.Cys1615Ter) c.4752T>A (p.Cys1584Ter) c.3306T>A (p.Cys1102Ter) | |
| 8 | g.41933487C>A | CA371064762 | KAT6A | c.4733G>T (p.Cys1578Phe) c.4739G>T (p.Cys1580Phe) c.3414G>T c.4865G>T (p.Cys1622Phe) c.4844G>T (p.Cys1615Phe) c.4751G>T (p.Cys1584Phe) c.3305G>T (p.Cys1102Phe) | |
| 8 | g.41933487C>G | CA371064763 | KAT6A | c.4733G>C (p.Cys1578Ser) c.4739G>C (p.Cys1580Ser) c.3414G>C c.4865G>C (p.Cys1622Ser) c.4844G>C (p.Cys1615Ser) c.4751G>C (p.Cys1584Ser) c.3305G>C (p.Cys1102Ser) | |
| 8 | g.41933487C>T | CA371064764 | KAT6A | c.4733G>A (p.Cys1578Tyr) c.4739G>A (p.Cys1580Tyr) c.3414G>A c.4865G>A (p.Cys1622Tyr) c.4844G>A (p.Cys1615Tyr) c.4751G>A (p.Cys1584Tyr) c.3305G>A (p.Cys1102Tyr) | |
| 8 | g.41933488A>C | CA371064765 | KAT6A | c.4732T>G (p.Cys1578Gly) c.4738T>G (p.Cys1580Gly) c.3413T>G c.4864T>G (p.Cys1622Gly) c.4843T>G (p.Cys1615Gly) c.4750T>G (p.Cys1584Gly) c.3304T>G (p.Cys1102Gly) | |
| 8 | g.41933488A>G | CA371064766 | KAT6A | c.4732T>C (p.Cys1578Arg) c.4738T>C (p.Cys1580Arg) c.3413T>C c.4864T>C (p.Cys1622Arg) c.4843T>C (p.Cys1615Arg) c.4750T>C (p.Cys1584Arg) c.3304T>C (p.Cys1102Arg) | |
| 8 | g.41933488A>T | CA371064767 | KAT6A | c.4732T>A (p.Cys1578Ser) c.4738T>A (p.Cys1580Ser) c.3413T>A c.4864T>A (p.Cys1622Ser) c.4843T>A (p.Cys1615Ser) c.4750T>A (p.Cys1584Ser) c.3304T>A (p.Cys1102Ser) | |
| 8 | g.41933489G>A | CA460783849 | KAT6A | c.4731C>T (p.Ile1577=) c.4737C>T (p.Ile1579=) c.3412C>T c.4863C>T (p.Ile1621=) c.4842C>T (p.Ile1614=) c.4749C>T (p.Ile1583=) c.3303C>T (p.Ile1101=) | |
| 8 | g.41933489G>C | CA371064768 | KAT6A | c.4731C>G (p.Ile1577Met) c.4737C>G (p.Ile1579Met) c.3412C>G c.4863C>G (p.Ile1621Met) c.4842C>G (p.Ile1614Met) c.4749C>G (p.Ile1583Met) c.3303C>G (p.Ile1101Met) | |
| 8 | g.41933489G>T | CA460783850 | KAT6A | c.4731C>A (p.Ile1577=) c.4737C>A (p.Ile1579=) c.3412C>A c.4863C>A (p.Ile1621=) c.4842C>A (p.Ile1614=) c.4749C>A (p.Ile1583=) c.3303C>A (p.Ile1101=) | |
| 8 | g.41933490A>C | CA371064769 | KAT6A | c.4730T>G (p.Ile1577Ser) c.4736T>G (p.Ile1579Ser) c.3411T>G c.4862T>G (p.Ile1621Ser) c.4841T>G (p.Ile1614Ser) c.4748T>G (p.Ile1583Ser) c.3302T>G (p.Ile1101Ser) |