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.75030211_75030217delinsAGCGAAT | CA1920306992 | DUSP29,KAT6B | c.5387_5393delinsAGCGAAT (p.Glu1796=) c.4838_4844delinsAGCGAAT (p.Glu1613=) c.4511_4517delinsAGCGAAT (p.Glu1504=) n.577-3623_577-3617delinsATTCGCT c.*3622-3623_*3622-3617delinsATTCGCT (n.*3622-3623_*3622-3617delinsATTCGCT) c.5225_5231delinsAGCGAAT (p.Glu1742=) c.4349_4355delinsAGCGAAT (p.Glu1450=) c.3698_3704delinsAGCGAAT (p.Glu1233=) c.3302_3308delinsAGCGAAT (p.Glu1101=) c.3044_3050delinsAGCGAAT (p.Glu1015=) c.4322_4328delinsAGCGAAT (p.Glu1441=) | |
| 10 | g.75030213_75030218del | CA5565193 | DUSP29,KAT6B | c.5389_5394del (p.Arg1797_Met1798del) c.4840_4845del (p.Arg1614_Met1615del) c.4513_4518del (p.Arg1505_Met1506del) n.577-3623_577-3618del c.*3622-3623_*3622-3618del (n.*3622-3623_*3622-3618del) c.5227_5232del (p.Arg1743_Met1744del) c.4351_4356del (p.Arg1451_Met1452del) c.3700_3705del (p.Arg1234_Met1235del) c.3304_3309del (p.Arg1102_Met1103del) c.3046_3051del (p.Arg1016_Met1017del) c.4324_4329del (p.Arg1442_Met1443del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.75030213C>A | CA470300852 | DUSP29,KAT6B | c.5389C>A (p.Arg1797=) c.4840C>A (p.Arg1614=) c.4513C>A (p.Arg1505=) n.577-3619G>T c.*3622-3619G>T (n.*3622-3619G>T) c.5227C>A (p.Arg1743=) c.4351C>A (p.Arg1451=) c.3700C>A (p.Arg1234=) c.3304C>A (p.Arg1102=) c.3046C>A (p.Arg1016=) c.4324C>A (p.Arg1442=) | gnomAD v4 |
| 10 | g.75030213C= | CA1920306994 | DUSP29,KAT6B | c.5389C= (p.Arg1797=) c.4840C= (p.Arg1614=) c.4513C= (p.Arg1505=) n.577-3619G= c.*3622-3619G= (n.*3622-3619G=) c.5227C= (p.Arg1743=) c.4351C= (p.Arg1451=) c.3700C= (p.Arg1234=) c.3304C= (p.Arg1102=) c.3046C= (p.Arg1016=) c.4324C= (p.Arg1442=) | |
| 10 | g.75030213C>G | CA377301051 | DUSP29,KAT6B | c.5389C>G (p.Arg1797Gly) c.4840C>G (p.Arg1614Gly) c.4513C>G (p.Arg1505Gly) n.577-3619G>C c.*3622-3619G>C (n.*3622-3619G>C) c.5227C>G (p.Arg1743Gly) c.4351C>G (p.Arg1451Gly) c.3700C>G (p.Arg1234Gly) c.3304C>G (p.Arg1102Gly) c.3046C>G (p.Arg1016Gly) c.4324C>G (p.Arg1442Gly) | |
| 10 | g.75030213C>T | CA143738 | DUSP29,KAT6B | c.5389C>T (p.Arg1797Ter) c.4840C>T (p.Arg1614Ter) c.4513C>T (p.Arg1505Ter) n.577-3619G>A c.*3622-3619G>A (n.*3622-3619G>A) c.5227C>T (p.Arg1743Ter) c.4351C>T (p.Arg1451Ter) c.3700C>T (p.Arg1234Ter) c.3304C>T (p.Arg1102Ter) c.3046C>T (p.Arg1016Ter) c.4324C>T (p.Arg1442Ter) | ClinVar dbSNP COSMIC |
| 10 | g.75030214G>A | CA5565194 | DUSP29,KAT6B | c.5390G>A (p.Arg1797Gln) c.4841G>A (p.Arg1614Gln) c.4514G>A (p.Arg1505Gln) n.577-3620C>T c.*3622-3620C>T (n.*3622-3620C>T) c.5228G>A (p.Arg1743Gln) c.4352G>A (p.Arg1451Gln) c.3701G>A (p.Arg1234Gln) c.3305G>A (p.Arg1102Gln) c.3047G>A (p.Arg1016Gln) c.4325G>A (p.Arg1442Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.75030214G>C | CA377301052 | DUSP29,KAT6B | c.5390G>C (p.Arg1797Pro) c.4841G>C (p.Arg1614Pro) c.4514G>C (p.Arg1505Pro) n.577-3620C>G c.*3622-3620C>G (n.*3622-3620C>G) c.5228G>C (p.Arg1743Pro) c.4352G>C (p.Arg1451Pro) c.3701G>C (p.Arg1234Pro) c.3305G>C (p.Arg1102Pro) c.3047G>C (p.Arg1016Pro) c.4325G>C (p.Arg1442Pro) | |
| 10 | g.75030214G= | CA1920306995 | DUSP29,KAT6B | c.5390G= (p.Arg1797=) c.4841G= (p.Arg1614=) c.4514G= (p.Arg1505=) n.577-3620C= c.*3622-3620C= (n.*3622-3620C=) c.5228G= (p.Arg1743=) c.4352G= (p.Arg1451=) c.3701G= (p.Arg1234=) c.3305G= (p.Arg1102=) c.3047G= (p.Arg1016=) c.4325G= (p.Arg1442=) | |
| 10 | g.75030214G>T | CA377301053 | DUSP29,KAT6B | c.5390G>T (p.Arg1797Leu) c.4841G>T (p.Arg1614Leu) c.4514G>T (p.Arg1505Leu) n.577-3620C>A c.*3622-3620C>A (n.*3622-3620C>A) c.5228G>T (p.Arg1743Leu) c.4352G>T (p.Arg1451Leu) c.3701G>T (p.Arg1234Leu) c.3305G>T (p.Arg1102Leu) c.3047G>T (p.Arg1016Leu) c.4325G>T (p.Arg1442Leu) | |
| 10 | g.75030215A>C | CA470300853 | DUSP29,KAT6B | c.5391A>C (p.Arg1797=) c.4842A>C (p.Arg1614=) c.4515A>C (p.Arg1505=) n.577-3621T>G c.*3622-3621T>G (n.*3622-3621T>G) c.5229A>C (p.Arg1743=) c.4353A>C (p.Arg1451=) c.3702A>C (p.Arg1234=) c.3306A>C (p.Arg1102=) c.3048A>C (p.Arg1016=) c.4326A>C (p.Arg1442=) | |
| 10 | g.75030215A>G | CA470300854 | DUSP29,KAT6B | c.5391A>G (p.Arg1797=) c.4842A>G (p.Arg1614=) c.4515A>G (p.Arg1505=) n.577-3621T>C c.*3622-3621T>C (n.*3622-3621T>C) c.5229A>G (p.Arg1743=) c.4353A>G (p.Arg1451=) c.3702A>G (p.Arg1234=) c.3306A>G (p.Arg1102=) c.3048A>G (p.Arg1016=) c.4326A>G (p.Arg1442=) | |
| 10 | g.75030215A>T | CA470300855 | DUSP29,KAT6B | c.5391A>T (p.Arg1797=) c.4842A>T (p.Arg1614=) c.4515A>T (p.Arg1505=) n.577-3621T>A c.*3622-3621T>A (n.*3622-3621T>A) c.5229A>T (p.Arg1743=) c.4353A>T (p.Arg1451=) c.3702A>T (p.Arg1234=) c.3306A>T (p.Arg1102=) c.3048A>T (p.Arg1016=) c.4326A>T (p.Arg1442=) | |
| 10 | g.75030216A>C | CA377301054 | DUSP29,KAT6B | c.5392A>C (p.Met1798Leu) c.4843A>C (p.Met1615Leu) c.4516A>C (p.Met1506Leu) n.577-3622T>G c.*3622-3622T>G (n.*3622-3622T>G) c.5230A>C (p.Met1744Leu) c.4354A>C (p.Met1452Leu) c.3703A>C (p.Met1235Leu) c.3307A>C (p.Met1103Leu) c.3049A>C (p.Met1017Leu) c.4327A>C (p.Met1443Leu) | |
| 10 | g.75030216A>G | CA377301055 | DUSP29,KAT6B | c.5392A>G (p.Met1798Val) c.4843A>G (p.Met1615Val) c.4516A>G (p.Met1506Val) n.577-3622T>C c.*3622-3622T>C (n.*3622-3622T>C) c.5230A>G (p.Met1744Val) c.4354A>G (p.Met1452Val) c.3703A>G (p.Met1235Val) c.3307A>G (p.Met1103Val) c.3049A>G (p.Met1017Val) c.4327A>G (p.Met1443Val) | |
| 10 | g.75030216A>T | CA377301056 | DUSP29,KAT6B | c.5392A>T (p.Met1798Leu) c.4843A>T (p.Met1615Leu) c.4516A>T (p.Met1506Leu) n.577-3622T>A c.*3622-3622T>A (n.*3622-3622T>A) c.5230A>T (p.Met1744Leu) c.4354A>T (p.Met1452Leu) c.3703A>T (p.Met1235Leu) c.3307A>T (p.Met1103Leu) c.3049A>T (p.Met1017Leu) c.4327A>T (p.Met1443Leu) | |
| 10 | g.75030217T>A | CA377301057 | DUSP29,KAT6B | c.5393T>A (p.Met1798Lys) c.4844T>A (p.Met1615Lys) c.4517T>A (p.Met1506Lys) n.577-3623A>T c.*3622-3623A>T (n.*3622-3623A>T) c.5231T>A (p.Met1744Lys) c.4355T>A (p.Met1452Lys) c.3704T>A (p.Met1235Lys) c.3308T>A (p.Met1103Lys) c.3050T>A (p.Met1017Lys) c.4328T>A (p.Met1443Lys) | |
| 10 | g.75030217T>C | CA377301058 | DUSP29,KAT6B | c.5393T>C (p.Met1798Thr) c.4844T>C (p.Met1615Thr) c.4517T>C (p.Met1506Thr) n.577-3623A>G c.*3622-3623A>G (n.*3622-3623A>G) c.5231T>C (p.Met1744Thr) c.4355T>C (p.Met1452Thr) c.3704T>C (p.Met1235Thr) c.3308T>C (p.Met1103Thr) c.3050T>C (p.Met1017Thr) c.4328T>C (p.Met1443Thr) | dbSNP |
| 10 | g.75030217T>G | CA377301059 | DUSP29,KAT6B | c.5393T>G (p.Met1798Arg) c.4844T>G (p.Met1615Arg) c.4517T>G (p.Met1506Arg) n.577-3623A>C c.*3622-3623A>C (n.*3622-3623A>C) c.5231T>G (p.Met1744Arg) c.4355T>G (p.Met1452Arg) c.3704T>G (p.Met1235Arg) c.3308T>G (p.Met1103Arg) c.3050T>G (p.Met1017Arg) c.4328T>G (p.Met1443Arg) | |
| 10 | g.75030217T= | CA1920306996 | DUSP29,KAT6B | c.5393T= (p.Met1798=) c.4844T= (p.Met1615=) c.4517T= (p.Met1506=) n.577-3623A= c.*3622-3623A= (n.*3622-3623A=) c.5231T= (p.Met1744=) c.4355T= (p.Met1452=) c.3704T= (p.Met1235=) c.3308T= (p.Met1103=) c.3050T= (p.Met1017=) c.4328T= (p.Met1443=) | |
| 10 | g.75030218G>A | CA377301062 | DUSP29,KAT6B | c.5394G>A (p.Met1798Ile) c.4845G>A (p.Met1615Ile) c.4518G>A (p.Met1506Ile) n.577-3624C>T c.*3622-3624C>T (n.*3622-3624C>T) c.5232G>A (p.Met1744Ile) c.4356G>A (p.Met1452Ile) c.3705G>A (p.Met1235Ile) c.3309G>A (p.Met1103Ile) c.3051G>A (p.Met1017Ile) c.4329G>A (p.Met1443Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.75030218G>C | CA377301061 | DUSP29,KAT6B | c.5394G>C (p.Met1798Ile) c.4845G>C (p.Met1615Ile) c.4518G>C (p.Met1506Ile) n.577-3624C>G c.*3622-3624C>G (n.*3622-3624C>G) c.5232G>C (p.Met1744Ile) c.4356G>C (p.Met1452Ile) c.3705G>C (p.Met1235Ile) c.3309G>C (p.Met1103Ile) c.3051G>C (p.Met1017Ile) c.4329G>C (p.Met1443Ile) | |
| 10 | g.75030218G= | CA1920306997 | DUSP29,KAT6B | c.5394G= (p.Met1798=) c.4845G= (p.Met1615=) c.4518G= (p.Met1506=) n.577-3624C= c.*3622-3624C= (n.*3622-3624C=) c.5232G= (p.Met1744=) c.4356G= (p.Met1452=) c.3705G= (p.Met1235=) c.3309G= (p.Met1103=) c.3051G= (p.Met1017=) c.4329G= (p.Met1443=) | |
| 10 | g.75030218G>T | CA377301060 | DUSP29,KAT6B | c.5394G>T (p.Met1798Ile) c.4845G>T (p.Met1615Ile) c.4518G>T (p.Met1506Ile) n.577-3624C>A c.*3622-3624C>A (n.*3622-3624C>A) c.5232G>T (p.Met1744Ile) c.4356G>T (p.Met1452Ile) c.3705G>T (p.Met1235Ile) c.3309G>T (p.Met1103Ile) c.3051G>T (p.Met1017Ile) c.4329G>T (p.Met1443Ile) | |
| 10 | g.75030219G>A | CA377301063 | DUSP29,KAT6B | c.5395G>A (p.Gly1799Ser) c.4846G>A (p.Gly1616Ser) c.4519G>A (p.Gly1507Ser) n.577-3625C>T c.*3622-3625C>T (n.*3622-3625C>T) c.5233G>A (p.Gly1745Ser) c.4357G>A (p.Gly1453Ser) c.3706G>A (p.Gly1236Ser) c.3310G>A (p.Gly1104Ser) c.3052G>A (p.Gly1018Ser) c.4330G>A (p.Gly1444Ser) | |
| 10 | g.75030219G>C | CA377301064 | DUSP29,KAT6B | c.5395G>C (p.Gly1799Arg) c.4846G>C (p.Gly1616Arg) c.4519G>C (p.Gly1507Arg) n.577-3625C>G c.*3622-3625C>G (n.*3622-3625C>G) c.5233G>C (p.Gly1745Arg) c.4357G>C (p.Gly1453Arg) c.3706G>C (p.Gly1236Arg) c.3310G>C (p.Gly1104Arg) c.3052G>C (p.Gly1018Arg) c.4330G>C (p.Gly1444Arg) | |
| 10 | g.75030219G>T | CA377301065 | DUSP29,KAT6B | c.5395G>T (p.Gly1799Cys) c.4846G>T (p.Gly1616Cys) c.4519G>T (p.Gly1507Cys) n.577-3625C>A c.*3622-3625C>A (n.*3622-3625C>A) c.5233G>T (p.Gly1745Cys) c.4357G>T (p.Gly1453Cys) c.3706G>T (p.Gly1236Cys) c.3310G>T (p.Gly1104Cys) c.3052G>T (p.Gly1018Cys) c.4330G>T (p.Gly1444Cys) | |
| 10 | g.75030220G>A | CA377301066 | DUSP29,KAT6B | c.5396G>A (p.Gly1799Asp) c.4847G>A (p.Gly1616Asp) c.4520G>A (p.Gly1507Asp) n.577-3626C>T c.*3622-3626C>T (n.*3622-3626C>T) c.5234G>A (p.Gly1745Asp) c.4358G>A (p.Gly1453Asp) c.3707G>A (p.Gly1236Asp) c.3311G>A (p.Gly1104Asp) c.3053G>A (p.Gly1018Asp) c.4331G>A (p.Gly1444Asp) | ClinVar gnomAD v4 |
| 10 | g.75030220G>C | CA377301067 | DUSP29,KAT6B | c.5396G>C (p.Gly1799Ala) c.4847G>C (p.Gly1616Ala) c.4520G>C (p.Gly1507Ala) n.577-3626C>G c.*3622-3626C>G (n.*3622-3626C>G) c.5234G>C (p.Gly1745Ala) c.4358G>C (p.Gly1453Ala) c.3707G>C (p.Gly1236Ala) c.3311G>C (p.Gly1104Ala) c.3053G>C (p.Gly1018Ala) c.4331G>C (p.Gly1444Ala) | |
| 10 | g.75030220G>T | CA377301068 | DUSP29,KAT6B | c.5396G>T (p.Gly1799Val) c.4847G>T (p.Gly1616Val) c.4520G>T (p.Gly1507Val) n.577-3626C>A c.*3622-3626C>A (n.*3622-3626C>A) c.5234G>T (p.Gly1745Val) c.4358G>T (p.Gly1453Val) c.3707G>T (p.Gly1236Val) c.3311G>T (p.Gly1104Val) c.3053G>T (p.Gly1018Val) c.4331G>T (p.Gly1444Val) | |
| 10 | g.75030221T>A | CA470300856 | DUSP29,KAT6B | c.5397T>A (p.Gly1799=) c.4848T>A (p.Gly1616=) c.4521T>A (p.Gly1507=) n.577-3627A>T c.*3622-3627A>T (n.*3622-3627A>T) c.5235T>A (p.Gly1745=) c.4359T>A (p.Gly1453=) c.3708T>A (p.Gly1236=) c.3312T>A (p.Gly1104=) c.3054T>A (p.Gly1018=) c.4332T>A (p.Gly1444=) | |
| 10 | g.75030221T>C | CA470300857 | DUSP29,KAT6B | c.5397T>C (p.Gly1799=) c.4848T>C (p.Gly1616=) c.4521T>C (p.Gly1507=) n.577-3627A>G c.*3622-3627A>G (n.*3622-3627A>G) c.5235T>C (p.Gly1745=) c.4359T>C (p.Gly1453=) c.3708T>C (p.Gly1236=) c.3312T>C (p.Gly1104=) c.3054T>C (p.Gly1018=) c.4332T>C (p.Gly1444=) | |
| 10 | g.75030221T>G | CA470300858 | DUSP29,KAT6B | c.5397T>G (p.Gly1799=) c.4848T>G (p.Gly1616=) c.4521T>G (p.Gly1507=) n.577-3627A>C c.*3622-3627A>C (n.*3622-3627A>C) c.5235T>G (p.Gly1745=) c.4359T>G (p.Gly1453=) c.3708T>G (p.Gly1236=) c.3312T>G (p.Gly1104=) c.3054T>G (p.Gly1018=) c.4332T>G (p.Gly1444=) | |
| 10 | g.75030222C>A | CA377301071 | DUSP29,KAT6B | c.5398C>A (p.Gln1800Lys) c.4849C>A (p.Gln1617Lys) c.4522C>A (p.Gln1508Lys) n.577-3628G>T c.*3622-3628G>T (n.*3622-3628G>T) c.5236C>A (p.Gln1746Lys) c.4360C>A (p.Gln1454Lys) c.3709C>A (p.Gln1237Lys) c.3313C>A (p.Gln1105Lys) c.3055C>A (p.Gln1019Lys) c.4333C>A (p.Gln1445Lys) | gnomAD v4 |
| 10 | g.75030222C>G | CA377301069 | DUSP29,KAT6B | c.5398C>G (p.Gln1800Glu) c.4849C>G (p.Gln1617Glu) c.4522C>G (p.Gln1508Glu) n.577-3628G>C c.*3622-3628G>C (n.*3622-3628G>C) c.5236C>G (p.Gln1746Glu) c.4360C>G (p.Gln1454Glu) c.3709C>G (p.Gln1237Glu) c.3313C>G (p.Gln1105Glu) c.3055C>G (p.Gln1019Glu) c.4333C>G (p.Gln1445Glu) | |
| 10 | g.75030222C>T | CA377301070 | DUSP29,KAT6B | c.5398C>T (p.Gln1800Ter) c.4849C>T (p.Gln1617Ter) c.4522C>T (p.Gln1508Ter) n.577-3628G>A c.*3622-3628G>A (n.*3622-3628G>A) c.5236C>T (p.Gln1746Ter) c.4360C>T (p.Gln1454Ter) c.3709C>T (p.Gln1237Ter) c.3313C>T (p.Gln1105Ter) c.3055C>T (p.Gln1019Ter) c.4333C>T (p.Gln1445Ter) | |
| 10 | g.75030223A= | CA1920306998 | DUSP29,KAT6B | c.5399A= (p.Gln1800=) c.4850A= (p.Gln1617=) c.4523A= (p.Gln1508=) n.577-3629T= c.*3622-3629T= (n.*3622-3629T=) c.5237A= (p.Gln1746=) c.4361A= (p.Gln1454=) c.3710A= (p.Gln1237=) c.3314A= (p.Gln1105=) c.3056A= (p.Gln1019=) c.4334A= (p.Gln1445=) | |
| 10 | g.75030223A>C | CA5565195 | DUSP29,KAT6B | c.5399A>C (p.Gln1800Pro) c.4850A>C (p.Gln1617Pro) c.4523A>C (p.Gln1508Pro) n.577-3629T>G c.*3622-3629T>G (n.*3622-3629T>G) c.5237A>C (p.Gln1746Pro) c.4361A>C (p.Gln1454Pro) c.3710A>C (p.Gln1237Pro) c.3314A>C (p.Gln1105Pro) c.3056A>C (p.Gln1019Pro) c.4334A>C (p.Gln1445Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.75030223A>G | CA377301072 | DUSP29,KAT6B | c.5399A>G (p.Gln1800Arg) c.4850A>G (p.Gln1617Arg) c.4523A>G (p.Gln1508Arg) n.577-3629T>C c.*3622-3629T>C (n.*3622-3629T>C) c.5237A>G (p.Gln1746Arg) c.4361A>G (p.Gln1454Arg) c.3710A>G (p.Gln1237Arg) c.3314A>G (p.Gln1105Arg) c.3056A>G (p.Gln1019Arg) c.4334A>G (p.Gln1445Arg) | |
| 10 | g.75030223A>T | CA377301073 | DUSP29,KAT6B | c.5399A>T (p.Gln1800Leu) c.4850A>T (p.Gln1617Leu) c.4523A>T (p.Gln1508Leu) n.577-3629T>A c.*3622-3629T>A (n.*3622-3629T>A) c.5237A>T (p.Gln1746Leu) c.4361A>T (p.Gln1454Leu) c.3710A>T (p.Gln1237Leu) c.3314A>T (p.Gln1105Leu) c.3056A>T (p.Gln1019Leu) c.4334A>T (p.Gln1445Leu) | |
| 10 | g.75030224G>A | CA470300859 | DUSP29,KAT6B | c.5400G>A (p.Gln1800=) c.4851G>A (p.Gln1617=) c.4524G>A (p.Gln1508=) n.577-3630C>T c.*3622-3630C>T (n.*3622-3630C>T) c.5238G>A (p.Gln1746=) c.4362G>A (p.Gln1454=) c.3711G>A (p.Gln1237=) c.3315G>A (p.Gln1105=) c.3057G>A (p.Gln1019=) c.4335G>A (p.Gln1445=) | |
| 10 | g.75030224G>C | CA377301074 | DUSP29,KAT6B | c.5400G>C (p.Gln1800His) c.4851G>C (p.Gln1617His) c.4524G>C (p.Gln1508His) n.577-3630C>G c.*3622-3630C>G (n.*3622-3630C>G) c.5238G>C (p.Gln1746His) c.4362G>C (p.Gln1454His) c.3711G>C (p.Gln1237His) c.3315G>C (p.Gln1105His) c.3057G>C (p.Gln1019His) c.4335G>C (p.Gln1445His) | |
| 10 | g.75030224G= | CA1920306999 | DUSP29,KAT6B | c.5400G= (p.Gln1800=) c.4851G= (p.Gln1617=) c.4524G= (p.Gln1508=) n.577-3630C= c.*3622-3630C= (n.*3622-3630C=) c.5238G= (p.Gln1746=) c.4362G= (p.Gln1454=) c.3711G= (p.Gln1237=) c.3315G= (p.Gln1105=) c.3057G= (p.Gln1019=) c.4335G= (p.Gln1445=) | |
| 10 | g.75030224G>T | CA377301075 | DUSP29,KAT6B | c.5400G>T (p.Gln1800His) c.4851G>T (p.Gln1617His) c.4524G>T (p.Gln1508His) n.577-3630C>A c.*3622-3630C>A (n.*3622-3630C>A) c.5238G>T (p.Gln1746His) c.4362G>T (p.Gln1454His) c.3711G>T (p.Gln1237His) c.3315G>T (p.Gln1105His) c.3057G>T (p.Gln1019His) c.4335G>T (p.Gln1445His) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.75030225A>C | CA377301076 | DUSP29,KAT6B | c.5401A>C (p.Ser1801Arg) c.4852A>C (p.Ser1618Arg) c.4525A>C (p.Ser1509Arg) n.577-3631T>G c.*3622-3631T>G (n.*3622-3631T>G) c.5239A>C (p.Ser1747Arg) c.4363A>C (p.Ser1455Arg) c.3712A>C (p.Ser1238Arg) c.3316A>C (p.Ser1106Arg) c.3058A>C (p.Ser1020Arg) c.4336A>C (p.Ser1446Arg) | dbSNP |
| 10 | g.75030225A>G | CA377301078 | DUSP29,KAT6B | c.5401A>G (p.Ser1801Gly) c.4852A>G (p.Ser1618Gly) c.4525A>G (p.Ser1509Gly) n.577-3631T>C c.*3622-3631T>C (n.*3622-3631T>C) c.5239A>G (p.Ser1747Gly) c.4363A>G (p.Ser1455Gly) c.3712A>G (p.Ser1238Gly) c.3316A>G (p.Ser1106Gly) c.3058A>G (p.Ser1020Gly) c.4336A>G (p.Ser1446Gly) | gnomAD v4 |
| 10 | g.75030225A>T | CA377301077 | DUSP29,KAT6B | c.5401A>T (p.Ser1801Cys) c.4852A>T (p.Ser1618Cys) c.4525A>T (p.Ser1509Cys) n.577-3631T>A c.*3622-3631T>A (n.*3622-3631T>A) c.5239A>T (p.Ser1747Cys) c.4363A>T (p.Ser1455Cys) c.3712A>T (p.Ser1238Cys) c.3316A>T (p.Ser1106Cys) c.3058A>T (p.Ser1020Cys) c.4336A>T (p.Ser1446Cys) | |
| 10 | g.75030226G>A | CA377301079 | DUSP29,KAT6B | c.5402G>A (p.Ser1801Asn) c.4853G>A (p.Ser1618Asn) c.4526G>A (p.Ser1509Asn) n.577-3632C>T c.*3622-3632C>T (n.*3622-3632C>T) c.5240G>A (p.Ser1747Asn) c.4364G>A (p.Ser1455Asn) c.3713G>A (p.Ser1238Asn) c.3317G>A (p.Ser1106Asn) c.3059G>A (p.Ser1020Asn) c.4337G>A (p.Ser1446Asn) | |
| 10 | g.75030226G>C | CA377301080 | DUSP29,KAT6B | c.5402G>C (p.Ser1801Thr) c.4853G>C (p.Ser1618Thr) c.4526G>C (p.Ser1509Thr) n.577-3632C>G c.*3622-3632C>G (n.*3622-3632C>G) c.5240G>C (p.Ser1747Thr) c.4364G>C (p.Ser1455Thr) c.3713G>C (p.Ser1238Thr) c.3317G>C (p.Ser1106Thr) c.3059G>C (p.Ser1020Thr) c.4337G>C (p.Ser1446Thr) | |
| 10 | g.75030226G>T | CA377301081 | DUSP29,KAT6B | c.5402G>T (p.Ser1801Ile) c.4853G>T (p.Ser1618Ile) c.4526G>T (p.Ser1509Ile) n.577-3632C>A c.*3622-3632C>A (n.*3622-3632C>A) c.5240G>T (p.Ser1747Ile) c.4364G>T (p.Ser1455Ile) c.3713G>T (p.Ser1238Ile) c.3317G>T (p.Ser1106Ile) c.3059G>T (p.Ser1020Ile) c.4337G>T (p.Ser1446Ile) |