WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.75030113C>A | CA377300730 | DUSP29,KAT6B | c.5289C>A (p.Ser1763Arg) c.4740C>A (p.Ser1580Arg) c.4413C>A (p.Ser1471Arg) n.577-3519G>T c.*3622-3519G>T (n.*3622-3519G>T) c.5127C>A (p.Ser1709Arg) c.4251C>A (p.Ser1417Arg) c.3600C>A (p.Ser1200Arg) c.3204C>A (p.Ser1068Arg) c.2946C>A (p.Ser982Arg) c.4224C>A (p.Ser1408Arg) | |
| 10 | g.75030113C>G | CA377300732 | DUSP29,KAT6B | c.5289C>G (p.Ser1763Arg) c.4740C>G (p.Ser1580Arg) c.4413C>G (p.Ser1471Arg) n.577-3519G>C c.*3622-3519G>C (n.*3622-3519G>C) c.5127C>G (p.Ser1709Arg) c.4251C>G (p.Ser1417Arg) c.3600C>G (p.Ser1200Arg) c.3204C>G (p.Ser1068Arg) c.2946C>G (p.Ser982Arg) c.4224C>G (p.Ser1408Arg) | |
| 10 | g.75030113C>T | CA470300797 | DUSP29,KAT6B | c.5289C>T (p.Ser1763=) c.4740C>T (p.Ser1580=) c.4413C>T (p.Ser1471=) n.577-3519G>A c.*3622-3519G>A (n.*3622-3519G>A) c.5127C>T (p.Ser1709=) c.4251C>T (p.Ser1417=) c.3600C>T (p.Ser1200=) c.3204C>T (p.Ser1068=) c.2946C>T (p.Ser982=) c.4224C>T (p.Ser1408=) | |
| 10 | g.75030114C>A | CA377300734 | DUSP29,KAT6B | c.5290C>A (p.Gln1764Lys) c.4741C>A (p.Gln1581Lys) c.4414C>A (p.Gln1472Lys) n.577-3520G>T c.*3622-3520G>T (n.*3622-3520G>T) c.5128C>A (p.Gln1710Lys) c.4252C>A (p.Gln1418Lys) c.3601C>A (p.Gln1201Lys) c.3205C>A (p.Gln1069Lys) c.2947C>A (p.Gln983Lys) c.4225C>A (p.Gln1409Lys) | |
| 10 | g.75030114C= | CA1920306949 | DUSP29,KAT6B | c.5290C= (p.Gln1764=) c.4741C= (p.Gln1581=) c.4414C= (p.Gln1472=) n.577-3520G= c.*3622-3520G= (n.*3622-3520G=) c.5128C= (p.Gln1710=) c.4252C= (p.Gln1418=) c.3601C= (p.Gln1201=) c.3205C= (p.Gln1069=) c.2947C= (p.Gln983=) c.4225C= (p.Gln1409=) | |
| 10 | g.75030114C>G | CA377300737 | DUSP29,KAT6B | c.5290C>G (p.Gln1764Glu) c.4741C>G (p.Gln1581Glu) c.4414C>G (p.Gln1472Glu) n.577-3520G>C c.*3622-3520G>C (n.*3622-3520G>C) c.5128C>G (p.Gln1710Glu) c.4252C>G (p.Gln1418Glu) c.3601C>G (p.Gln1201Glu) c.3205C>G (p.Gln1069Glu) c.2947C>G (p.Gln983Glu) c.4225C>G (p.Gln1409Glu) | |
| 10 | g.75030114C>T | CA377300736 | DUSP29,KAT6B | c.5290C>T (p.Gln1764Ter) c.4741C>T (p.Gln1581Ter) c.4414C>T (p.Gln1472Ter) n.577-3520G>A c.*3622-3520G>A (n.*3622-3520G>A) c.5128C>T (p.Gln1710Ter) c.4252C>T (p.Gln1418Ter) c.3601C>T (p.Gln1201Ter) c.3205C>T (p.Gln1069Ter) c.2947C>T (p.Gln983Ter) c.4225C>T (p.Gln1409Ter) | ClinVar dbSNP |
| 10 | g.75030115A>C | CA377300739 | DUSP29,KAT6B | c.5291A>C (p.Gln1764Pro) c.4742A>C (p.Gln1581Pro) c.4415A>C (p.Gln1472Pro) n.577-3521T>G c.*3622-3521T>G (n.*3622-3521T>G) c.5129A>C (p.Gln1710Pro) c.4253A>C (p.Gln1418Pro) c.3602A>C (p.Gln1201Pro) c.3206A>C (p.Gln1069Pro) c.2948A>C (p.Gln983Pro) c.4226A>C (p.Gln1409Pro) | |
| 10 | g.75030115A>G | CA377300741 | DUSP29,KAT6B | c.5291A>G (p.Gln1764Arg) c.4742A>G (p.Gln1581Arg) c.4415A>G (p.Gln1472Arg) n.577-3521T>C c.*3622-3521T>C (n.*3622-3521T>C) c.5129A>G (p.Gln1710Arg) c.4253A>G (p.Gln1418Arg) c.3602A>G (p.Gln1201Arg) c.3206A>G (p.Gln1069Arg) c.2948A>G (p.Gln983Arg) c.4226A>G (p.Gln1409Arg) | gnomAD v4 |
| 10 | g.75030115A>T | CA377300743 | DUSP29,KAT6B | c.5291A>T (p.Gln1764Leu) c.4742A>T (p.Gln1581Leu) c.4415A>T (p.Gln1472Leu) n.577-3521T>A c.*3622-3521T>A (n.*3622-3521T>A) c.5129A>T (p.Gln1710Leu) c.4253A>T (p.Gln1418Leu) c.3602A>T (p.Gln1201Leu) c.3206A>T (p.Gln1069Leu) c.2948A>T (p.Gln983Leu) c.4226A>T (p.Gln1409Leu) | |
| 10 | g.75030116G>A | CA470300798 | DUSP29,KAT6B | c.5292G>A (p.Gln1764=) c.4743G>A (p.Gln1581=) c.4416G>A (p.Gln1472=) n.577-3522C>T c.*3622-3522C>T (n.*3622-3522C>T) c.5130G>A (p.Gln1710=) c.4254G>A (p.Gln1418=) c.3603G>A (p.Gln1201=) c.3207G>A (p.Gln1069=) c.2949G>A (p.Gln983=) c.4227G>A (p.Gln1409=) | |
| 10 | g.75030116G>C | CA377300745 | DUSP29,KAT6B | c.5292G>C (p.Gln1764His) c.4743G>C (p.Gln1581His) c.4416G>C (p.Gln1472His) n.577-3522C>G c.*3622-3522C>G (n.*3622-3522C>G) c.5130G>C (p.Gln1710His) c.4254G>C (p.Gln1418His) c.3603G>C (p.Gln1201His) c.3207G>C (p.Gln1069His) c.2949G>C (p.Gln983His) c.4227G>C (p.Gln1409His) | dbSNP |
| 10 | g.75030116G= | CA1920306950 | DUSP29,KAT6B | c.5292G= (p.Gln1764=) c.4743G= (p.Gln1581=) c.4416G= (p.Gln1472=) n.577-3522C= c.*3622-3522C= (n.*3622-3522C=) c.5130G= (p.Gln1710=) c.4254G= (p.Gln1418=) c.3603G= (p.Gln1201=) c.3207G= (p.Gln1069=) c.2949G= (p.Gln983=) c.4227G= (p.Gln1409=) | |
| 10 | g.75030116G>T | CA377300747 | DUSP29,KAT6B | c.5292G>T (p.Gln1764His) c.4743G>T (p.Gln1581His) c.4416G>T (p.Gln1472His) n.577-3522C>A c.*3622-3522C>A (n.*3622-3522C>A) c.5130G>T (p.Gln1710His) c.4254G>T (p.Gln1418His) c.3603G>T (p.Gln1201His) c.3207G>T (p.Gln1069His) c.2949G>T (p.Gln983His) c.4227G>T (p.Gln1409His) | |
| 10 | g.75030117C>A | CA5565167 | DUSP29,KAT6B | c.5293C>A (p.Gln1765Lys) c.4744C>A (p.Gln1582Lys) c.4417C>A (p.Gln1473Lys) n.577-3523G>T c.*3622-3523G>T (n.*3622-3523G>T) c.5131C>A (p.Gln1711Lys) c.4255C>A (p.Gln1419Lys) c.3604C>A (p.Gln1202Lys) c.3208C>A (p.Gln1070Lys) c.2950C>A (p.Gln984Lys) c.4228C>A (p.Gln1410Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.75030117C= | CA1920306951 | DUSP29,KAT6B | c.5293C= (p.Gln1765=) c.4744C= (p.Gln1582=) c.4417C= (p.Gln1473=) n.577-3523G= c.*3622-3523G= (n.*3622-3523G=) c.5131C= (p.Gln1711=) c.4255C= (p.Gln1419=) c.3604C= (p.Gln1202=) c.3208C= (p.Gln1070=) c.2950C= (p.Gln984=) c.4228C= (p.Gln1410=) | |
| 10 | g.75030117C>G | CA377300750 | DUSP29,KAT6B | c.5293C>G (p.Gln1765Glu) c.4744C>G (p.Gln1582Glu) c.4417C>G (p.Gln1473Glu) n.577-3523G>C c.*3622-3523G>C (n.*3622-3523G>C) c.5131C>G (p.Gln1711Glu) c.4255C>G (p.Gln1419Glu) c.3604C>G (p.Gln1202Glu) c.3208C>G (p.Gln1070Glu) c.2950C>G (p.Gln984Glu) c.4228C>G (p.Gln1410Glu) | |
| 10 | g.75030117C>T | CA377300752 | DUSP29,KAT6B | c.5293C>T (p.Gln1765Ter) c.4744C>T (p.Gln1582Ter) c.4417C>T (p.Gln1473Ter) n.577-3523G>A c.*3622-3523G>A (n.*3622-3523G>A) c.5131C>T (p.Gln1711Ter) c.4255C>T (p.Gln1419Ter) c.3604C>T (p.Gln1202Ter) c.3208C>T (p.Gln1070Ter) c.2950C>T (p.Gln984Ter) c.4228C>T (p.Gln1410Ter) | |
| 10 | g.75030118A= | CA1920306952 | DUSP29,KAT6B | c.5294A= (p.Gln1765=) c.4745A= (p.Gln1582=) c.4418A= (p.Gln1473=) n.577-3524T= c.*3622-3524T= (n.*3622-3524T=) c.5132A= (p.Gln1711=) c.4256A= (p.Gln1419=) c.3605A= (p.Gln1202=) c.3209A= (p.Gln1070=) c.2951A= (p.Gln984=) c.4229A= (p.Gln1410=) | |
| 10 | g.75030118A>C | CA377300754 | DUSP29,KAT6B | c.5294A>C (p.Gln1765Pro) c.4745A>C (p.Gln1582Pro) c.4418A>C (p.Gln1473Pro) n.577-3524T>G c.*3622-3524T>G (n.*3622-3524T>G) c.5132A>C (p.Gln1711Pro) c.4256A>C (p.Gln1419Pro) c.3605A>C (p.Gln1202Pro) c.3209A>C (p.Gln1070Pro) c.2951A>C (p.Gln984Pro) c.4229A>C (p.Gln1410Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.75030118A>G | CA377300756 | DUSP29,KAT6B | c.5294A>G (p.Gln1765Arg) c.4745A>G (p.Gln1582Arg) c.4418A>G (p.Gln1473Arg) n.577-3524T>C c.*3622-3524T>C (n.*3622-3524T>C) c.5132A>G (p.Gln1711Arg) c.4256A>G (p.Gln1419Arg) c.3605A>G (p.Gln1202Arg) c.3209A>G (p.Gln1070Arg) c.2951A>G (p.Gln984Arg) c.4229A>G (p.Gln1410Arg) | |
| 10 | g.75030118A>T | CA377300758 | DUSP29,KAT6B | c.5294A>T (p.Gln1765Leu) c.4745A>T (p.Gln1582Leu) c.4418A>T (p.Gln1473Leu) n.577-3524T>A c.*3622-3524T>A (n.*3622-3524T>A) c.5132A>T (p.Gln1711Leu) c.4256A>T (p.Gln1419Leu) c.3605A>T (p.Gln1202Leu) c.3209A>T (p.Gln1070Leu) c.2951A>T (p.Gln984Leu) c.4229A>T (p.Gln1410Leu) | |
| 10 | g.75030119G>A | CA470300799 | DUSP29,KAT6B | c.5295G>A (p.Gln1765=) c.4746G>A (p.Gln1582=) c.4419G>A (p.Gln1473=) n.577-3525C>T c.*3622-3525C>T (n.*3622-3525C>T) c.5133G>A (p.Gln1711=) c.4257G>A (p.Gln1419=) c.3606G>A (p.Gln1202=) c.3210G>A (p.Gln1070=) c.2952G>A (p.Gln984=) c.4230G>A (p.Gln1410=) | |
| 10 | g.75030119G>C | CA377300760 | DUSP29,KAT6B | c.5295G>C (p.Gln1765His) c.4746G>C (p.Gln1582His) c.4419G>C (p.Gln1473His) n.577-3525C>G c.*3622-3525C>G (n.*3622-3525C>G) c.5133G>C (p.Gln1711His) c.4257G>C (p.Gln1419His) c.3606G>C (p.Gln1202His) c.3210G>C (p.Gln1070His) c.2952G>C (p.Gln984His) c.4230G>C (p.Gln1410His) | |
| 10 | g.75030119G= | CA1920306953 | DUSP29,KAT6B | c.5295G= (p.Gln1765=) c.4746G= (p.Gln1582=) c.4419G= (p.Gln1473=) n.577-3525C= c.*3622-3525C= (n.*3622-3525C=) c.5133G= (p.Gln1711=) c.4257G= (p.Gln1419=) c.3606G= (p.Gln1202=) c.3210G= (p.Gln1070=) c.2952G= (p.Gln984=) c.4230G= (p.Gln1410=) | |
| 10 | g.75030119G>T | CA377300762 | DUSP29,KAT6B | c.5295G>T (p.Gln1765His) c.4746G>T (p.Gln1582His) c.4419G>T (p.Gln1473His) n.577-3525C>A c.*3622-3525C>A (n.*3622-3525C>A) c.5133G>T (p.Gln1711His) c.4257G>T (p.Gln1419His) c.3606G>T (p.Gln1202His) c.3210G>T (p.Gln1070His) c.2952G>T (p.Gln984His) c.4230G>T (p.Gln1410His) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.75030120C>A | CA377300766 | DUSP29,KAT6B | c.5296C>A (p.Leu1766Met) c.4747C>A (p.Leu1583Met) c.4420C>A (p.Leu1474Met) n.577-3526G>T c.*3622-3526G>T (n.*3622-3526G>T) c.5134C>A (p.Leu1712Met) c.4258C>A (p.Leu1420Met) c.3607C>A (p.Leu1203Met) c.3211C>A (p.Leu1071Met) c.2953C>A (p.Leu985Met) c.4231C>A (p.Leu1411Met) | |
| 10 | g.75030120C= | CA1920306954 | DUSP29,KAT6B | c.5296C= (p.Leu1766=) c.4747C= (p.Leu1583=) c.4420C= (p.Leu1474=) n.577-3526G= c.*3622-3526G= (n.*3622-3526G=) c.5134C= (p.Leu1712=) c.4258C= (p.Leu1420=) c.3607C= (p.Leu1203=) c.3211C= (p.Leu1071=) c.2953C= (p.Leu985=) c.4231C= (p.Leu1411=) | |
| 10 | g.75030120C>G | CA377300764 | DUSP29,KAT6B | c.5296C>G (p.Leu1766Val) c.4747C>G (p.Leu1583Val) c.4420C>G (p.Leu1474Val) n.577-3526G>C c.*3622-3526G>C (n.*3622-3526G>C) c.5134C>G (p.Leu1712Val) c.4258C>G (p.Leu1420Val) c.3607C>G (p.Leu1203Val) c.3211C>G (p.Leu1071Val) c.2953C>G (p.Leu985Val) c.4231C>G (p.Leu1411Val) | |
| 10 | g.75030120C>T | CA470300800 | DUSP29,KAT6B | c.5296C>T (p.Leu1766=) c.4747C>T (p.Leu1583=) c.4420C>T (p.Leu1474=) n.577-3526G>A c.*3622-3526G>A (n.*3622-3526G>A) c.5134C>T (p.Leu1712=) c.4258C>T (p.Leu1420=) c.3607C>T (p.Leu1203=) c.3211C>T (p.Leu1071=) c.2953C>T (p.Leu985=) c.4231C>T (p.Leu1411=) | dbSNP |
| 10 | g.75030121T>A | CA377300768 | DUSP29,KAT6B | c.5297T>A (p.Leu1766Gln) c.4748T>A (p.Leu1583Gln) c.4421T>A (p.Leu1474Gln) n.577-3527A>T c.*3622-3527A>T (n.*3622-3527A>T) c.5135T>A (p.Leu1712Gln) c.4259T>A (p.Leu1420Gln) c.3608T>A (p.Leu1203Gln) c.3212T>A (p.Leu1071Gln) c.2954T>A (p.Leu985Gln) c.4232T>A (p.Leu1411Gln) | |
| 10 | g.75030121T>C | CA377300770 | DUSP29,KAT6B | c.5297T>C (p.Leu1766Pro) c.4748T>C (p.Leu1583Pro) c.4421T>C (p.Leu1474Pro) n.577-3527A>G c.*3622-3527A>G (n.*3622-3527A>G) c.5135T>C (p.Leu1712Pro) c.4259T>C (p.Leu1420Pro) c.3608T>C (p.Leu1203Pro) c.3212T>C (p.Leu1071Pro) c.2954T>C (p.Leu985Pro) c.4232T>C (p.Leu1411Pro) | |
| 10 | g.75030121T>G | CA377300771 | DUSP29,KAT6B | c.5297T>G (p.Leu1766Arg) c.4748T>G (p.Leu1583Arg) c.4421T>G (p.Leu1474Arg) n.577-3527A>C c.*3622-3527A>C (n.*3622-3527A>C) c.5135T>G (p.Leu1712Arg) c.4259T>G (p.Leu1420Arg) c.3608T>G (p.Leu1203Arg) c.3212T>G (p.Leu1071Arg) c.2954T>G (p.Leu985Arg) c.4232T>G (p.Leu1411Arg) | |
| 10 | g.75030122G>A | CA470300801 | DUSP29,KAT6B | c.5298G>A (p.Leu1766=) c.4749G>A (p.Leu1583=) c.4422G>A (p.Leu1474=) n.577-3528C>T c.*3622-3528C>T (n.*3622-3528C>T) c.5136G>A (p.Leu1712=) c.4260G>A (p.Leu1420=) c.3609G>A (p.Leu1203=) c.3213G>A (p.Leu1071=) c.2955G>A (p.Leu985=) c.4233G>A (p.Leu1411=) | ClinVar dbSNP |
| 10 | g.75030122G>C | CA470300802 | DUSP29,KAT6B | c.5298G>C (p.Leu1766=) c.4749G>C (p.Leu1583=) c.4422G>C (p.Leu1474=) n.577-3528C>G c.*3622-3528C>G (n.*3622-3528C>G) c.5136G>C (p.Leu1712=) c.4260G>C (p.Leu1420=) c.3609G>C (p.Leu1203=) c.3213G>C (p.Leu1071=) c.2955G>C (p.Leu985=) c.4233G>C (p.Leu1411=) | |
| 10 | g.75030122G>T | CA470300803 | DUSP29,KAT6B | c.5298G>T (p.Leu1766=) c.4749G>T (p.Leu1583=) c.4422G>T (p.Leu1474=) n.577-3528C>A c.*3622-3528C>A (n.*3622-3528C>A) c.5136G>T (p.Leu1712=) c.4260G>T (p.Leu1420=) c.3609G>T (p.Leu1203=) c.3213G>T (p.Leu1071=) c.2955G>T (p.Leu985=) c.4233G>T (p.Leu1411=) | |
| 10 | g.75030123G>A | CA377300774 | DUSP29,KAT6B | c.5299G>A (p.Ala1767Thr) c.4750G>A (p.Ala1584Thr) c.4423G>A (p.Ala1475Thr) n.577-3529C>T c.*3622-3529C>T (n.*3622-3529C>T) c.5137G>A (p.Ala1713Thr) c.4261G>A (p.Ala1421Thr) c.3610G>A (p.Ala1204Thr) c.3214G>A (p.Ala1072Thr) c.2956G>A (p.Ala986Thr) c.4234G>A (p.Ala1412Thr) | |
| 10 | g.75030123G>C | CA377300776 | DUSP29,KAT6B | c.5299G>C (p.Ala1767Pro) c.4750G>C (p.Ala1584Pro) c.4423G>C (p.Ala1475Pro) n.577-3529C>G c.*3622-3529C>G (n.*3622-3529C>G) c.5137G>C (p.Ala1713Pro) c.4261G>C (p.Ala1421Pro) c.3610G>C (p.Ala1204Pro) c.3214G>C (p.Ala1072Pro) c.2956G>C (p.Ala986Pro) c.4234G>C (p.Ala1412Pro) | |
| 10 | g.75030123G>T | CA377300777 | DUSP29,KAT6B | c.5299G>T (p.Ala1767Ser) c.4750G>T (p.Ala1584Ser) c.4423G>T (p.Ala1475Ser) n.577-3529C>A c.*3622-3529C>A (n.*3622-3529C>A) c.5137G>T (p.Ala1713Ser) c.4261G>T (p.Ala1421Ser) c.3610G>T (p.Ala1204Ser) c.3214G>T (p.Ala1072Ser) c.2956G>T (p.Ala986Ser) c.4234G>T (p.Ala1412Ser) | gnomAD v4 COSMIC |
| 10 | g.75030124C>A | CA377300780 | DUSP29,KAT6B | c.5300C>A (p.Ala1767Asp) c.4751C>A (p.Ala1584Asp) c.4424C>A (p.Ala1475Asp) n.577-3530G>T c.*3622-3530G>T (n.*3622-3530G>T) c.5138C>A (p.Ala1713Asp) c.4262C>A (p.Ala1421Asp) c.3611C>A (p.Ala1204Asp) c.3215C>A (p.Ala1072Asp) c.2957C>A (p.Ala986Asp) c.4235C>A (p.Ala1412Asp) | |
| 10 | g.75030124C>G | CA377300781 | DUSP29,KAT6B | c.5300C>G (p.Ala1767Gly) c.4751C>G (p.Ala1584Gly) c.4424C>G (p.Ala1475Gly) n.577-3530G>C c.*3622-3530G>C (n.*3622-3530G>C) c.5138C>G (p.Ala1713Gly) c.4262C>G (p.Ala1421Gly) c.3611C>G (p.Ala1204Gly) c.3215C>G (p.Ala1072Gly) c.2957C>G (p.Ala986Gly) c.4235C>G (p.Ala1412Gly) | |
| 10 | g.75030124C>T | CA377300782 | DUSP29,KAT6B | c.5300C>T (p.Ala1767Val) c.4751C>T (p.Ala1584Val) c.4424C>T (p.Ala1475Val) n.577-3530G>A c.*3622-3530G>A (n.*3622-3530G>A) c.5138C>T (p.Ala1713Val) c.4262C>T (p.Ala1421Val) c.3611C>T (p.Ala1204Val) c.3215C>T (p.Ala1072Val) c.2957C>T (p.Ala986Val) c.4235C>T (p.Ala1412Val) | |
| 10 | g.75030125T>A | CA470300804 | DUSP29,KAT6B | c.5301T>A (p.Ala1767=) c.4752T>A (p.Ala1584=) c.4425T>A (p.Ala1475=) n.577-3531A>T c.*3622-3531A>T (n.*3622-3531A>T) c.5139T>A (p.Ala1713=) c.4263T>A (p.Ala1421=) c.3612T>A (p.Ala1204=) c.3216T>A (p.Ala1072=) c.2958T>A (p.Ala986=) c.4236T>A (p.Ala1412=) | |
| 10 | g.75030125T>C | CA5565168 | DUSP29,KAT6B | c.5301T>C (p.Ala1767=) c.4752T>C (p.Ala1584=) c.4425T>C (p.Ala1475=) n.577-3531A>G c.*3622-3531A>G (n.*3622-3531A>G) c.5139T>C (p.Ala1713=) c.4263T>C (p.Ala1421=) c.3612T>C (p.Ala1204=) c.3216T>C (p.Ala1072=) c.2958T>C (p.Ala986=) c.4236T>C (p.Ala1412=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.75030125T>G | CA470300805 | DUSP29,KAT6B | c.5301T>G (p.Ala1767=) c.4752T>G (p.Ala1584=) c.4425T>G (p.Ala1475=) n.577-3531A>C c.*3622-3531A>C (n.*3622-3531A>C) c.5139T>G (p.Ala1713=) c.4263T>G (p.Ala1421=) c.3612T>G (p.Ala1204=) c.3216T>G (p.Ala1072=) c.2958T>G (p.Ala986=) c.4236T>G (p.Ala1412=) | |
| 10 | g.75030125T= | CA1920306955 | DUSP29,KAT6B | c.5301T= (p.Ala1767=) c.4752T= (p.Ala1584=) c.4425T= (p.Ala1475=) n.577-3531A= c.*3622-3531A= (n.*3622-3531A=) c.5139T= (p.Ala1713=) c.4263T= (p.Ala1421=) c.3612T= (p.Ala1204=) c.3216T= (p.Ala1072=) c.2958T= (p.Ala986=) c.4236T= (p.Ala1412=) | |
| 10 | g.75030126C>A | CA377300786 | DUSP29,KAT6B | c.5302C>A (p.Gln1768Lys) c.4753C>A (p.Gln1585Lys) c.4426C>A (p.Gln1476Lys) n.577-3532G>T c.*3622-3532G>T (n.*3622-3532G>T) c.5140C>A (p.Gln1714Lys) c.4264C>A (p.Gln1422Lys) c.3613C>A (p.Gln1205Lys) c.3217C>A (p.Gln1073Lys) c.2959C>A (p.Gln987Lys) c.4237C>A (p.Gln1413Lys) | ClinVar dbSNP |
| 10 | g.75030126C= | CA1920306956 | DUSP29,KAT6B | c.5302C= (p.Gln1768=) c.4753C= (p.Gln1585=) c.4426C= (p.Gln1476=) n.577-3532G= c.*3622-3532G= (n.*3622-3532G=) c.5140C= (p.Gln1714=) c.4264C= (p.Gln1422=) c.3613C= (p.Gln1205=) c.3217C= (p.Gln1073=) c.2959C= (p.Gln987=) c.4237C= (p.Gln1413=) | |
| 10 | g.75030126C>G | CA377300787 | DUSP29,KAT6B | c.5302C>G (p.Gln1768Glu) c.4753C>G (p.Gln1585Glu) c.4426C>G (p.Gln1476Glu) n.577-3532G>C c.*3622-3532G>C (n.*3622-3532G>C) c.5140C>G (p.Gln1714Glu) c.4264C>G (p.Gln1422Glu) c.3613C>G (p.Gln1205Glu) c.3217C>G (p.Gln1073Glu) c.2959C>G (p.Gln987Glu) c.4237C>G (p.Gln1413Glu) | |
| 10 | g.75030126C>T | CA377300789 | DUSP29,KAT6B | c.5302C>T (p.Gln1768Ter) c.4753C>T (p.Gln1585Ter) c.4426C>T (p.Gln1476Ter) n.577-3532G>A c.*3622-3532G>A (n.*3622-3532G>A) c.5140C>T (p.Gln1714Ter) c.4264C>T (p.Gln1422Ter) c.3613C>T (p.Gln1205Ter) c.3217C>T (p.Gln1073Ter) c.2959C>T (p.Gln987Ter) c.4237C>T (p.Gln1413Ter) | ClinVar |