| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41933962_41933966dup | CA915945666 | KAT6A | c.4256_4260dup (p.Asp1421SerfsTer13) c.4262_4266dup (p.Asp1423SerfsTer13) c.2937_2941dup c.4388_4392dup (p.Asp1465SerfsTer13) c.4367_4371dup (p.Asp1458SerfsTer13) c.4274_4278dup (p.Asp1427SerfsTer13) c.2828_2832dup (p.Asp945SerfsTer13) | ClinVar dbSNP |
| 8 | g.41933962_41933966delinsGCTCA | CA1779196141 | KAT6A | c.4254_4258delinsTGAGC (p.Ser1418=) c.4260_4264delinsTGAGC (p.Ser1420=) c.2935_2939delinsTGAGC c.4386_4390delinsTGAGC (p.Ser1462=) c.4365_4369delinsTGAGC (p.Ser1455=) c.4272_4276delinsTGAGC (p.Ser1424=) c.2826_2830delinsTGAGC (p.Ser942=) | |
| 8 | g.41933963C>A | CA371066418 | KAT6A | c.4257G>T (p.Glu1419Asp) c.4263G>T (p.Glu1421Asp) c.2938G>T c.4389G>T (p.Glu1463Asp) c.4368G>T (p.Glu1456Asp) c.4275G>T (p.Glu1425Asp) c.2829G>T (p.Glu943Asp) | |
| 8 | g.41933963C= | CA1779196142 | KAT6A | c.4257G= (p.Glu1419=) c.4263G= (p.Glu1421=) c.2938G= c.4389G= (p.Glu1463=) c.4368G= (p.Glu1456=) c.4275G= (p.Glu1425=) c.2829G= (p.Glu943=) | |
| 8 | g.41933963C>G | CA371066420 | KAT6A | c.4257G>C (p.Glu1419Asp) c.4263G>C (p.Glu1421Asp) c.2938G>C c.4389G>C (p.Glu1463Asp) c.4368G>C (p.Glu1456Asp) c.4275G>C (p.Glu1425Asp) c.2829G>C (p.Glu943Asp) | |
| 8 | g.41933963C>T | CA460783703 | KAT6A | c.4257G>A (p.Glu1419=) c.4263G>A (p.Glu1421=) c.2938G>A c.4389G>A (p.Glu1463=) c.4368G>A (p.Glu1456=) c.4275G>A (p.Glu1425=) c.2829G>A (p.Glu943=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933965_41933968del | CA10654760 | KAT6A | c.4254_4257del (p.Glu1419TrpfsTer12) c.4260_4263del (p.Glu1421TrpfsTer12) c.2935_2938del c.4386_4389del (p.Glu1463TrpfsTer12) c.4365_4368del (p.Glu1456TrpfsTer12) c.4272_4275del (p.Glu1425TrpfsTer12) c.2826_2829del (p.Glu943TrpfsTer12) | ClinVar dbSNP |
| 8 | g.41933964T>A | CA371066422 | KAT6A | c.4256A>T (p.Glu1419Val) c.4262A>T (p.Glu1421Val) c.2937A>T c.4388A>T (p.Glu1463Val) c.4367A>T (p.Glu1456Val) c.4274A>T (p.Glu1425Val) c.2828A>T (p.Glu943Val) | |
| 8 | g.41933964T>C | CA371066424 | KAT6A | c.4256A>G (p.Glu1419Gly) c.4262A>G (p.Glu1421Gly) c.2937A>G c.4388A>G (p.Glu1463Gly) c.4367A>G (p.Glu1456Gly) c.4274A>G (p.Glu1425Gly) c.2828A>G (p.Glu943Gly) | |
| 8 | g.41933964T>G | CA371066425 | KAT6A | c.4256A>C (p.Glu1419Ala) c.4262A>C (p.Glu1421Ala) c.2937A>C c.4388A>C (p.Glu1463Ala) c.4367A>C (p.Glu1456Ala) c.4274A>C (p.Glu1425Ala) c.2828A>C (p.Glu943Ala) | |
| 8 | g.41933965C>A | CA371066428 | KAT6A | c.4255G>T (p.Glu1419Ter) c.4261G>T (p.Glu1421Ter) c.2936G>T c.4387G>T (p.Glu1463Ter) c.4366G>T (p.Glu1456Ter) c.4273G>T (p.Glu1425Ter) c.2827G>T (p.Glu943Ter) | |
| 8 | g.41933965C>G | CA371066430 | KAT6A | c.4255G>C (p.Glu1419Gln) c.4261G>C (p.Glu1421Gln) c.2936G>C c.4387G>C (p.Glu1463Gln) c.4366G>C (p.Glu1456Gln) c.4273G>C (p.Glu1425Gln) c.2827G>C (p.Glu943Gln) | |
| 8 | g.41933965C>T | CA371066431 | KAT6A | c.4255G>A (p.Glu1419Lys) c.4261G>A (p.Glu1421Lys) c.2936G>A c.4387G>A (p.Glu1463Lys) c.4366G>A (p.Glu1456Lys) c.4273G>A (p.Glu1425Lys) c.2827G>A (p.Glu943Lys) | |
| 8 | g.41933966A>C | CA371066433 | KAT6A | c.4254T>G (p.Ser1418Arg) c.4260T>G (p.Ser1420Arg) c.2935T>G c.4386T>G (p.Ser1462Arg) c.4365T>G (p.Ser1455Arg) c.4272T>G (p.Ser1424Arg) c.2826T>G (p.Ser942Arg) | |
| 8 | g.41933966A>G | CA460783708 | KAT6A | c.4254T>C (p.Ser1418=) c.4260T>C (p.Ser1420=) c.2935T>C c.4386T>C (p.Ser1462=) c.4365T>C (p.Ser1455=) c.4272T>C (p.Ser1424=) c.2826T>C (p.Ser942=) | |
| 8 | g.41933966A>T | CA371066435 | KAT6A | c.4254T>A (p.Ser1418Arg) c.4260T>A (p.Ser1420Arg) c.2935T>A c.4386T>A (p.Ser1462Arg) c.4365T>A (p.Ser1455Arg) c.4272T>A (p.Ser1424Arg) c.2826T>A (p.Ser942Arg) | |
| 8 | g.41933967C>A | CA371066436 | KAT6A | c.4253G>T (p.Ser1418Ile) c.4259G>T (p.Ser1420Ile) c.2934G>T c.4385G>T (p.Ser1462Ile) c.4364G>T (p.Ser1455Ile) c.4271G>T (p.Ser1424Ile) c.2825G>T (p.Ser942Ile) | |
| 8 | g.41933967C= | CA1779196143 | KAT6A | c.4253G= (p.Ser1418=) c.4259G= (p.Ser1420=) c.2934G= c.4385G= (p.Ser1462=) c.4364G= (p.Ser1455=) c.4271G= (p.Ser1424=) c.2825G= (p.Ser942=) | |
| 8 | g.41933967C>G | CA371066437 | KAT6A | c.4253G>C (p.Ser1418Thr) c.4259G>C (p.Ser1420Thr) c.2934G>C c.4385G>C (p.Ser1462Thr) c.4364G>C (p.Ser1455Thr) c.4271G>C (p.Ser1424Thr) c.2825G>C (p.Ser942Thr) | |
| 8 | g.41933967C>T | CA371066438 | KAT6A | c.4253G>A (p.Ser1418Asn) c.4259G>A (p.Ser1420Asn) c.2934G>A c.4385G>A (p.Ser1462Asn) c.4364G>A (p.Ser1455Asn) c.4271G>A (p.Ser1424Asn) c.2825G>A (p.Ser942Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.41933968T>A | CA371066444 | KAT6A | c.4252A>T (p.Ser1418Cys) c.4258A>T (p.Ser1420Cys) c.2933A>T c.4384A>T (p.Ser1462Cys) c.4363A>T (p.Ser1455Cys) c.4270A>T (p.Ser1424Cys) c.2824A>T (p.Ser942Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933968T>C | CA371066443 | KAT6A | c.4252A>G (p.Ser1418Gly) c.4258A>G (p.Ser1420Gly) c.2933A>G c.4384A>G (p.Ser1462Gly) c.4363A>G (p.Ser1455Gly) c.4270A>G (p.Ser1424Gly) c.2824A>G (p.Ser942Gly) | |
| 8 | g.41933968T>G | CA371066441 | KAT6A | c.4252A>C (p.Ser1418Arg) c.4258A>C (p.Ser1420Arg) c.2933A>C c.4384A>C (p.Ser1462Arg) c.4363A>C (p.Ser1455Arg) c.4270A>C (p.Ser1424Arg) c.2824A>C (p.Ser942Arg) | |
| 8 | g.41933968T= | CA1779196144 | KAT6A | c.4252A= (p.Ser1418=) c.4258A= (p.Ser1420=) c.2933A= c.4384A= (p.Ser1462=) c.4363A= (p.Ser1455=) c.4270A= (p.Ser1424=) c.2824A= (p.Ser942=) | |
| 8 | g.41933969A= | CA1779196145 | KAT6A | c.4251T= (p.His1417=) c.4257T= (p.His1419=) c.2932T= c.4383T= (p.His1461=) c.4362T= (p.His1454=) c.4269T= (p.His1423=) c.2823T= (p.His941=) | |
| 8 | g.41933969A>C | CA371066446 | KAT6A | c.4251T>G (p.His1417Gln) c.4257T>G (p.His1419Gln) c.2932T>G c.4383T>G (p.His1461Gln) c.4362T>G (p.His1454Gln) c.4269T>G (p.His1423Gln) c.2823T>G (p.His941Gln) | |
| 8 | g.41933969A>G | CA4729513 | KAT6A | c.4251T>C (p.His1417=) c.4257T>C (p.His1419=) c.2932T>C c.4383T>C (p.His1461=) c.4362T>C (p.His1454=) c.4269T>C (p.His1423=) c.2823T>C (p.His941=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933969A>T | CA371066448 | KAT6A | c.4251T>A (p.His1417Gln) c.4257T>A (p.His1419Gln) c.2932T>A c.4383T>A (p.His1461Gln) c.4362T>A (p.His1454Gln) c.4269T>A (p.His1423Gln) c.2823T>A (p.His941Gln) | |
| 8 | g.41933970T>A | CA371066450 | KAT6A | c.4250A>T (p.His1417Leu) c.4256A>T (p.His1419Leu) c.2931A>T c.4382A>T (p.His1461Leu) c.4361A>T (p.His1454Leu) c.4268A>T (p.His1423Leu) c.2822A>T (p.His941Leu) | |
| 8 | g.41933970T>C | CA4729514 | KAT6A | c.4250A>G (p.His1417Arg) c.4256A>G (p.His1419Arg) c.2931A>G c.4382A>G (p.His1461Arg) c.4361A>G (p.His1454Arg) c.4268A>G (p.His1423Arg) c.2822A>G (p.His941Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933970T>G | CA371066452 | KAT6A | c.4250A>C (p.His1417Pro) c.4256A>C (p.His1419Pro) c.2931A>C c.4382A>C (p.His1461Pro) c.4361A>C (p.His1454Pro) c.4268A>C (p.His1423Pro) c.2822A>C (p.His941Pro) | |
| 8 | g.41933970T= | CA1779196146 | KAT6A | c.4250A= (p.His1417=) c.4256A= (p.His1419=) c.2931A= c.4382A= (p.His1461=) c.4361A= (p.His1454=) c.4268A= (p.His1423=) c.2822A= (p.His941=) | |
| 8 | g.41933971G>A | CA371066455 | KAT6A | c.4249C>T (p.His1417Tyr) c.4255C>T (p.His1419Tyr) c.2930C>T c.4381C>T (p.His1461Tyr) c.4360C>T (p.His1454Tyr) c.4267C>T (p.His1423Tyr) c.2821C>T (p.His941Tyr) | |
| 8 | g.41933971G>C | CA371066456 | KAT6A | c.4249C>G (p.His1417Asp) c.4255C>G (p.His1419Asp) c.2930C>G c.4381C>G (p.His1461Asp) c.4360C>G (p.His1454Asp) c.4267C>G (p.His1423Asp) c.2821C>G (p.His941Asp) | ClinVar gnomAD v4 |
| 8 | g.41933971G>T | CA371066458 | KAT6A | c.4249C>A (p.His1417Asn) c.4255C>A (p.His1419Asn) c.2930C>A c.4381C>A (p.His1461Asn) c.4360C>A (p.His1454Asn) c.4267C>A (p.His1423Asn) c.2821C>A (p.His941Asn) | |
| 8 | g.41933972A>C | CA460783716 | KAT6A | c.4248T>G (p.Pro1416=) c.4254T>G (p.Pro1418=) c.2929T>G c.4380T>G (p.Pro1460=) c.4359T>G (p.Pro1453=) c.4266T>G (p.Pro1422=) c.2820T>G (p.Pro940=) | |
| 8 | g.41933972A>G | CA460783715 | KAT6A | c.4248T>C (p.Pro1416=) c.4254T>C (p.Pro1418=) c.2929T>C c.4380T>C (p.Pro1460=) c.4359T>C (p.Pro1453=) c.4266T>C (p.Pro1422=) c.2820T>C (p.Pro940=) | gnomAD v4 |
| 8 | g.41933972A>T | CA460783714 | KAT6A | c.4248T>A (p.Pro1416=) c.4254T>A (p.Pro1418=) c.2929T>A c.4380T>A (p.Pro1460=) c.4359T>A (p.Pro1453=) c.4266T>A (p.Pro1422=) c.2820T>A (p.Pro940=) | |
| 8 | g.41933973G>A | CA4729515 | KAT6A | c.4247C>T (p.Pro1416Leu) c.4253C>T (p.Pro1418Leu) c.2928C>T c.4379C>T (p.Pro1460Leu) c.4358C>T (p.Pro1453Leu) c.4265C>T (p.Pro1422Leu) c.2819C>T (p.Pro940Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.41933973G>C | CA371066459 | KAT6A | c.4247C>G (p.Pro1416Arg) c.4253C>G (p.Pro1418Arg) c.2928C>G c.4379C>G (p.Pro1460Arg) c.4358C>G (p.Pro1453Arg) c.4265C>G (p.Pro1422Arg) c.2819C>G (p.Pro940Arg) | |
| 8 | g.41933973G= | CA1779196147 | KAT6A | c.4247C= (p.Pro1416=) c.4253C= (p.Pro1418=) c.2928C= c.4379C= (p.Pro1460=) c.4358C= (p.Pro1453=) c.4265C= (p.Pro1422=) c.2819C= (p.Pro940=) | |
| 8 | g.41933973G>T | CA371066460 | KAT6A | c.4247C>A (p.Pro1416His) c.4253C>A (p.Pro1418His) c.2928C>A c.4379C>A (p.Pro1460His) c.4358C>A (p.Pro1453His) c.4265C>A (p.Pro1422His) c.2819C>A (p.Pro940His) | |
| 8 | g.41933974G>A | CA371066462 | KAT6A | c.4246C>T (p.Pro1416Ser) c.4252C>T (p.Pro1418Ser) c.2927C>T c.4378C>T (p.Pro1460Ser) c.4357C>T (p.Pro1453Ser) c.4264C>T (p.Pro1422Ser) c.2818C>T (p.Pro940Ser) | dbSNP |
| 8 | g.41933974G>C | CA371066463 | KAT6A | c.4246C>G (p.Pro1416Ala) c.4252C>G (p.Pro1418Ala) c.2927C>G c.4378C>G (p.Pro1460Ala) c.4357C>G (p.Pro1453Ala) c.4264C>G (p.Pro1422Ala) c.2818C>G (p.Pro940Ala) | |
| 8 | g.41933974G= | CA1779196148 | KAT6A | c.4246C= (p.Pro1416=) c.4252C= (p.Pro1418=) c.2927C= c.4378C= (p.Pro1460=) c.4357C= (p.Pro1453=) c.4264C= (p.Pro1422=) c.2818C= (p.Pro940=) | |
| 8 | g.41933974G>T | CA371066461 | KAT6A | c.4246C>A (p.Pro1416Thr) c.4252C>A (p.Pro1418Thr) c.2927C>A c.4378C>A (p.Pro1460Thr) c.4357C>A (p.Pro1453Thr) c.4264C>A (p.Pro1422Thr) c.2818C>A (p.Pro940Thr) | |
| 8 | g.41933975A= | CA1779196149 | KAT6A | c.4245T= (p.Ile1415=) c.4251T= (p.Ile1417=) c.2926T= c.4377T= (p.Ile1459=) c.4356T= (p.Ile1452=) c.4263T= (p.Ile1421=) c.2817T= (p.Ile939=) | |
| 8 | g.41933975A>C | CA371066464 | KAT6A | c.4245T>G (p.Ile1415Met) c.4251T>G (p.Ile1417Met) c.2926T>G c.4377T>G (p.Ile1459Met) c.4356T>G (p.Ile1452Met) c.4263T>G (p.Ile1421Met) c.2817T>G (p.Ile939Met) | |
| 8 | g.41933975A>G | CA460783720 | KAT6A | c.4245T>C (p.Ile1415=) c.4251T>C (p.Ile1417=) c.2926T>C c.4377T>C (p.Ile1459=) c.4356T>C (p.Ile1452=) c.4263T>C (p.Ile1421=) c.2817T>C (p.Ile939=) | |
| 8 | g.41933975A>T | CA460783721 | KAT6A | c.4245T>A (p.Ile1415=) c.4251T>A (p.Ile1417=) c.2926T>A c.4377T>A (p.Ile1459=) c.4356T>A (p.Ile1452=) c.4263T>A (p.Ile1421=) c.2817T>A (p.Ile939=) | dbSNP gnomAD v2 gnomAD v4 |