| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41933855_41933924delinsGGTCTGACACGCCGCAAGAGTTTCCTCACAGTCCTGGTAGGCGCCCTCATGCTCACTGCTTTCTTCTTGA | CA1779196102 | KAT6A | c.4296_4365delinsTCAAGAAGAAAGCAGTGAGCATGAGGGCGCCTACCAGGACTGTGAGGAAACTCTTGCGGCGTGTCAGACC (p.Thr1432=) c.4302_4371delinsTCAAGAAGAAAGCAGTGAGCATGAGGGCGCCTACCAGGACTGTGAGGAAACTCTTGCGGCGTGTCAGACC (p.Thr1434=) c.2977_3046delinsTCAAGAAGAAAGCAGTGAGCATGAGGGCGCCTACCAGGACTGTGAGGAAACTCTTGCGGCGTGTCAGACC c.4428_4497delinsTCAAGAAGAAAGCAGTGAGCATGAGGGCGCCTACCAGGACTGTGAGGAAACTCTTGCGGCGTGTCAGACC (p.Thr1476=) c.4407_4476delinsTCAAGAAGAAAGCAGTGAGCATGAGGGCGCCTACCAGGACTGTGAGGAAACTCTTGCGGCGTGTCAGACC (p.Thr1469=) c.4314_4383delinsTCAAGAAGAAAGCAGTGAGCATGAGGGCGCCTACCAGGACTGTGAGGAAACTCTTGCGGCGTGTCAGACC (p.Thr1438=) c.2868_2937delinsTCAAGAAGAAAGCAGTGAGCATGAGGGCGCCTACCAGGACTGTGAGGAAACTCTTGCGGCGTGTCAGACC (p.Thr956=) | |
| 8 | g.41933859_41933927del | CA1113181733 | KAT6A | c.4296_4364del (p.Gln1433_Thr1455del) c.4302_4370del (p.Gln1435_Thr1457del) c.2977_3045del c.4428_4496del (p.Gln1477_Thr1499del) c.4407_4475del (p.Gln1470_Thr1492del) c.4314_4382del (p.Gln1439_Thr1461del) c.2868_2936del (p.Gln957_Thr979del) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933863A= | CA1779196106 | KAT6A | c.4357T= (p.Cys1453=) c.4363T= (p.Cys1455=) c.3038T= c.4489T= (p.Cys1497=) c.4468T= (p.Cys1490=) c.4375T= (p.Cys1459=) c.2929T= (p.Cys977=) | |
| 8 | g.41933863A>C | CA371066008 | KAT6A | c.4357T>G (p.Cys1453Gly) c.4363T>G (p.Cys1455Gly) c.3038T>G c.4489T>G (p.Cys1497Gly) c.4468T>G (p.Cys1490Gly) c.4375T>G (p.Cys1459Gly) c.2929T>G (p.Cys977Gly) | |
| 8 | g.41933863A>G | CA371066010 | KAT6A | c.4357T>C (p.Cys1453Arg) c.4363T>C (p.Cys1455Arg) c.3038T>C c.4489T>C (p.Cys1497Arg) c.4468T>C (p.Cys1490Arg) c.4375T>C (p.Cys1459Arg) c.2929T>C (p.Cys977Arg) | |
| 8 | g.41933863A>T | CA371066012 | KAT6A | c.4357T>A (p.Cys1453Ser) c.4363T>A (p.Cys1455Ser) c.3038T>A c.4489T>A (p.Cys1497Ser) c.4468T>A (p.Cys1490Ser) c.4375T>A (p.Cys1459Ser) c.2929T>A (p.Cys977Ser) | dbSNP gnomAD v4 |
| 8 | g.41933864C>A | CA460783461 | KAT6A | c.4356G>T (p.Ala1452=) c.4362G>T (p.Ala1454=) c.3037G>T c.4488G>T (p.Ala1496=) c.4467G>T (p.Ala1489=) c.4374G>T (p.Ala1458=) c.2928G>T (p.Ala976=) | COSMIC |
| 8 | g.41933864C= | CA1779196107 | KAT6A | c.4356G= (p.Ala1452=) c.4362G= (p.Ala1454=) c.3037G= c.4488G= (p.Ala1496=) c.4467G= (p.Ala1489=) c.4374G= (p.Ala1458=) c.2928G= (p.Ala976=) | |
| 8 | g.41933864C>G | CA460783463 | KAT6A | c.4356G>C (p.Ala1452=) c.4362G>C (p.Ala1454=) c.3037G>C c.4488G>C (p.Ala1496=) c.4467G>C (p.Ala1489=) c.4374G>C (p.Ala1458=) c.2928G>C (p.Ala976=) | |
| 8 | g.41933864C>T | CA4729501 | KAT6A | c.4356G>A (p.Ala1452=) c.4362G>A (p.Ala1454=) c.3037G>A c.4488G>A (p.Ala1496=) c.4467G>A (p.Ala1489=) c.4374G>A (p.Ala1458=) c.2928G>A (p.Ala976=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933865G>A | CA4729502 | KAT6A | c.4355C>T (p.Ala1452Val) c.4361C>T (p.Ala1454Val) c.3036C>T c.4487C>T (p.Ala1496Val) c.4466C>T (p.Ala1489Val) c.4373C>T (p.Ala1458Val) c.2927C>T (p.Ala976Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933865G>C | CA371066015 | KAT6A | c.4355C>G (p.Ala1452Gly) c.4361C>G (p.Ala1454Gly) c.3036C>G c.4487C>G (p.Ala1496Gly) c.4466C>G (p.Ala1489Gly) c.4373C>G (p.Ala1458Gly) c.2927C>G (p.Ala976Gly) | dbSNP |
| 8 | g.41933865G= | CA1779196108 | KAT6A | c.4355C= (p.Ala1452=) c.4361C= (p.Ala1454=) c.3036C= c.4487C= (p.Ala1496=) c.4466C= (p.Ala1489=) c.4373C= (p.Ala1458=) c.2927C= (p.Ala976=) | |
| 8 | g.41933865G>T | CA371066017 | KAT6A | c.4355C>A (p.Ala1452Glu) c.4361C>A (p.Ala1454Glu) c.3036C>A c.4487C>A (p.Ala1496Glu) c.4466C>A (p.Ala1489Glu) c.4373C>A (p.Ala1458Glu) c.2927C>A (p.Ala976Glu) | |
| 8 | g.41933866C>A | CA371066018 | KAT6A | c.4354G>T (p.Ala1452Ser) c.4360G>T (p.Ala1454Ser) c.3035G>T c.4486G>T (p.Ala1496Ser) c.4465G>T (p.Ala1489Ser) c.4372G>T (p.Ala1458Ser) c.2926G>T (p.Ala976Ser) | |
| 8 | g.41933866C>G | CA371066020 | KAT6A | c.4354G>C (p.Ala1452Pro) c.4360G>C (p.Ala1454Pro) c.3035G>C c.4486G>C (p.Ala1496Pro) c.4465G>C (p.Ala1489Pro) c.4372G>C (p.Ala1458Pro) c.2926G>C (p.Ala976Pro) | |
| 8 | g.41933866C>T | CA371066022 | KAT6A | c.4354G>A (p.Ala1452Thr) c.4360G>A (p.Ala1454Thr) c.3035G>A c.4486G>A (p.Ala1496Thr) c.4465G>A (p.Ala1489Thr) c.4372G>A (p.Ala1458Thr) c.2926G>A (p.Ala976Thr) | |
| 8 | g.41933867C>A | CA460783465 | KAT6A | c.4353G>T (p.Ala1451=) c.4359G>T (p.Ala1453=) c.3034G>T c.4485G>T (p.Ala1495=) c.4464G>T (p.Ala1488=) c.4371G>T (p.Ala1457=) c.2925G>T (p.Ala975=) | |
| 8 | g.41933867C= | CA1779196109 | KAT6A | c.4353G= (p.Ala1451=) c.4359G= (p.Ala1453=) c.3034G= c.4485G= (p.Ala1495=) c.4464G= (p.Ala1488=) c.4371G= (p.Ala1457=) c.2925G= (p.Ala975=) | |
| 8 | g.41933867C>G | CA460783464 | KAT6A | c.4353G>C (p.Ala1451=) c.4359G>C (p.Ala1453=) c.3034G>C c.4485G>C (p.Ala1495=) c.4464G>C (p.Ala1488=) c.4371G>C (p.Ala1457=) c.2925G>C (p.Ala975=) | |
| 8 | g.41933867C>T | CA4729503 | KAT6A | c.4353G>A (p.Ala1451=) c.4359G>A (p.Ala1453=) c.3034G>A c.4485G>A (p.Ala1495=) c.4464G>A (p.Ala1488=) c.4371G>A (p.Ala1457=) c.2925G>A (p.Ala975=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933868G>A | CA4729504 | KAT6A | c.4352C>T (p.Ala1451Val) c.4358C>T (p.Ala1453Val) c.3033C>T c.4484C>T (p.Ala1495Val) c.4463C>T (p.Ala1488Val) c.4370C>T (p.Ala1457Val) c.2924C>T (p.Ala975Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.41933868G>C | CA371066027 | KAT6A | c.4352C>G (p.Ala1451Gly) c.4358C>G (p.Ala1453Gly) c.3033C>G c.4484C>G (p.Ala1495Gly) c.4463C>G (p.Ala1488Gly) c.4370C>G (p.Ala1457Gly) c.2924C>G (p.Ala975Gly) | gnomAD v4 |
| 8 | g.41933868G= | CA1779196110 | KAT6A | c.4352C= (p.Ala1451=) c.4358C= (p.Ala1453=) c.3033C= c.4484C= (p.Ala1495=) c.4463C= (p.Ala1488=) c.4370C= (p.Ala1457=) c.2924C= (p.Ala975=) | |
| 8 | g.41933868G>T | CA371066030 | KAT6A | c.4352C>A (p.Ala1451Glu) c.4358C>A (p.Ala1453Glu) c.3033C>A c.4484C>A (p.Ala1495Glu) c.4463C>A (p.Ala1488Glu) c.4370C>A (p.Ala1457Glu) c.2924C>A (p.Ala975Glu) | gnomAD v4 |
| 8 | g.41933869C>A | CA371066034 | KAT6A | c.4351G>T (p.Ala1451Ser) c.4357G>T (p.Ala1453Ser) c.3032G>T c.4483G>T (p.Ala1495Ser) c.4462G>T (p.Ala1488Ser) c.4369G>T (p.Ala1457Ser) c.2923G>T (p.Ala975Ser) | |
| 8 | g.41933869C>G | CA371066036 | KAT6A | c.4351G>C (p.Ala1451Pro) c.4357G>C (p.Ala1453Pro) c.3032G>C c.4483G>C (p.Ala1495Pro) c.4462G>C (p.Ala1488Pro) c.4369G>C (p.Ala1457Pro) c.2923G>C (p.Ala975Pro) | |
| 8 | g.41933869C>T | CA371066032 | KAT6A | c.4351G>A (p.Ala1451Thr) c.4357G>A (p.Ala1453Thr) c.3032G>A c.4483G>A (p.Ala1495Thr) c.4462G>A (p.Ala1488Thr) c.4369G>A (p.Ala1457Thr) c.2923G>A (p.Ala975Thr) | gnomAD v4 |
| 8 | g.41933870A= | CA1779196111 | KAT6A | c.4350T= (p.Leu1450=) c.4356T= (p.Leu1452=) c.3031T= c.4482T= (p.Leu1494=) c.4461T= (p.Leu1487=) c.4368T= (p.Leu1456=) c.2922T= (p.Leu974=) | |
| 8 | g.41933870A>C | CA460783469 | KAT6A | c.4350T>G (p.Leu1450=) c.4356T>G (p.Leu1452=) c.3031T>G c.4482T>G (p.Leu1494=) c.4461T>G (p.Leu1487=) c.4368T>G (p.Leu1456=) c.2922T>G (p.Leu974=) | |
| 8 | g.41933870A>G | CA460783470 | KAT6A | c.4350T>C (p.Leu1450=) c.4356T>C (p.Leu1452=) c.3031T>C c.4482T>C (p.Leu1494=) c.4461T>C (p.Leu1487=) c.4368T>C (p.Leu1456=) c.2922T>C (p.Leu974=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.41933870A>T | CA460783471 | KAT6A | c.4350T>A (p.Leu1450=) c.4356T>A (p.Leu1452=) c.3031T>A c.4482T>A (p.Leu1494=) c.4461T>A (p.Leu1487=) c.4368T>A (p.Leu1456=) c.2922T>A (p.Leu974=) | |
| 8 | g.41933871A>C | CA371066038 | KAT6A | c.4349T>G (p.Leu1450Arg) c.4355T>G (p.Leu1452Arg) c.3030T>G c.4481T>G (p.Leu1494Arg) c.4460T>G (p.Leu1487Arg) c.4367T>G (p.Leu1456Arg) c.2921T>G (p.Leu974Arg) | |
| 8 | g.41933871A>G | CA371066039 | KAT6A | c.4349T>C (p.Leu1450Pro) c.4355T>C (p.Leu1452Pro) c.3030T>C c.4481T>C (p.Leu1494Pro) c.4460T>C (p.Leu1487Pro) c.4367T>C (p.Leu1456Pro) c.2921T>C (p.Leu974Pro) | gnomAD v4 |
| 8 | g.41933871A>T | CA371066040 | KAT6A | c.4349T>A (p.Leu1450His) c.4355T>A (p.Leu1452His) c.3030T>A c.4481T>A (p.Leu1494His) c.4460T>A (p.Leu1487His) c.4367T>A (p.Leu1456His) c.2921T>A (p.Leu974His) | |
| 8 | g.41933873_41933874del | CA2580614345 | KAT6A | c.4348_4349del (p.Leu1450CysfsTer13) c.4354_4355del (p.Leu1452CysfsTer13) c.3029_3030del c.4480_4481del (p.Leu1494CysfsTer13) c.4459_4460del (p.Leu1487CysfsTer13) c.4366_4367del (p.Leu1456CysfsTer13) c.2920_2921del (p.Leu974CysfsTer13) | ClinVar |
| 8 | g.41933872G>A | CA371066042 | KAT6A | c.4348C>T (p.Leu1450Phe) c.4354C>T (p.Leu1452Phe) c.3029C>T c.4480C>T (p.Leu1494Phe) c.4459C>T (p.Leu1487Phe) c.4366C>T (p.Leu1456Phe) c.2920C>T (p.Leu974Phe) | |
| 8 | g.41933872G>C | CA371066043 | KAT6A | c.4348C>G (p.Leu1450Val) c.4354C>G (p.Leu1452Val) c.3029C>G c.4480C>G (p.Leu1494Val) c.4459C>G (p.Leu1487Val) c.4366C>G (p.Leu1456Val) c.2920C>G (p.Leu974Val) | dbSNP COSMIC |
| 8 | g.41933872G= | CA1779196112 | KAT6A | c.4348C= (p.Leu1450=) c.4354C= (p.Leu1452=) c.3029C= c.4480C= (p.Leu1494=) c.4459C= (p.Leu1487=) c.4366C= (p.Leu1456=) c.2920C= (p.Leu974=) | |
| 8 | g.41933872G>T | CA371066045 | KAT6A | c.4348C>A (p.Leu1450Ile) c.4354C>A (p.Leu1452Ile) c.3029C>A c.4480C>A (p.Leu1494Ile) c.4459C>A (p.Leu1487Ile) c.4366C>A (p.Leu1456Ile) c.2920C>A (p.Leu974Ile) | |
| 8 | g.41933873A>C | CA460783476 | KAT6A | c.4347T>G (p.Thr1449=) c.4353T>G (p.Thr1451=) c.3028T>G c.4479T>G (p.Thr1493=) c.4458T>G (p.Thr1486=) c.4365T>G (p.Thr1455=) c.2919T>G (p.Thr973=) | gnomAD v4 |
| 8 | g.41933873A>G | CA460783478 | KAT6A | c.4347T>C (p.Thr1449=) c.4353T>C (p.Thr1451=) c.3028T>C c.4479T>C (p.Thr1493=) c.4458T>C (p.Thr1486=) c.4365T>C (p.Thr1455=) c.2919T>C (p.Thr973=) | |
| 8 | g.41933873A>T | CA460783477 | KAT6A | c.4347T>A (p.Thr1449=) c.4353T>A (p.Thr1451=) c.3028T>A c.4479T>A (p.Thr1493=) c.4458T>A (p.Thr1486=) c.4365T>A (p.Thr1455=) c.2919T>A (p.Thr973=) | |
| 8 | g.41933874G>A | CA371066049 | KAT6A | c.4346C>T (p.Thr1449Ile) c.4352C>T (p.Thr1451Ile) c.3027C>T c.4478C>T (p.Thr1493Ile) c.4457C>T (p.Thr1486Ile) c.4364C>T (p.Thr1455Ile) c.2918C>T (p.Thr973Ile) | |
| 8 | g.41933874G>C | CA371066046 | KAT6A | c.4346C>G (p.Thr1449Ser) c.4352C>G (p.Thr1451Ser) c.3027C>G c.4478C>G (p.Thr1493Ser) c.4457C>G (p.Thr1486Ser) c.4364C>G (p.Thr1455Ser) c.2918C>G (p.Thr973Ser) | |
| 8 | g.41933874G>T | CA371066047 | KAT6A | c.4346C>A (p.Thr1449Asn) c.4352C>A (p.Thr1451Asn) c.3027C>A c.4478C>A (p.Thr1493Asn) c.4457C>A (p.Thr1486Asn) c.4364C>A (p.Thr1455Asn) c.2918C>A (p.Thr973Asn) | |
| 8 | g.41933875T>A | CA371066051 | KAT6A | c.4345A>T (p.Thr1449Ser) c.4351A>T (p.Thr1451Ser) c.3026A>T c.4477A>T (p.Thr1493Ser) c.4456A>T (p.Thr1486Ser) c.4363A>T (p.Thr1455Ser) c.2917A>T (p.Thr973Ser) | |
| 8 | g.41933875T>C | CA371066053 | KAT6A | c.4345A>G (p.Thr1449Ala) c.4351A>G (p.Thr1451Ala) c.3026A>G c.4477A>G (p.Thr1493Ala) c.4456A>G (p.Thr1486Ala) c.4363A>G (p.Thr1455Ala) c.2917A>G (p.Thr973Ala) | |
| 8 | g.41933875T>G | CA371066054 | KAT6A | c.4345A>C (p.Thr1449Pro) c.4351A>C (p.Thr1451Pro) c.3026A>C c.4477A>C (p.Thr1493Pro) c.4456A>C (p.Thr1486Pro) c.4363A>C (p.Thr1455Pro) c.2917A>C (p.Thr973Pro) | |
| 8 | g.41933876T>A | CA371066056 | KAT6A | c.4344A>T (p.Glu1448Asp) c.4350A>T (p.Glu1450Asp) c.3025A>T c.4476A>T (p.Glu1492Asp) c.4455A>T (p.Glu1485Asp) c.4362A>T (p.Glu1454Asp) c.2916A>T (p.Glu972Asp) |