| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.75028616G>A | CA470299525 | DUSP29,KAT6B | c.3792G>A (p.Glu1264=) c.3243G>A (p.Glu1081=) c.2916G>A (p.Glu972=) c.2727G>A (p.Glu909=) n.577-2022C>T c.*3622-2022C>T (n.*3622-2022C>T) c.3630G>A (p.Glu1210=) c.2754G>A (p.Glu918=) c.2103G>A (p.Glu701=) c.1707G>A (p.Glu569=) c.1449G>A (p.Glu483=) | |
| 10 | g.75028616G>C | CA377291821 | DUSP29,KAT6B | c.3792G>C (p.Glu1264Asp) c.3243G>C (p.Glu1081Asp) c.2916G>C (p.Glu972Asp) c.2727G>C (p.Glu909Asp) n.577-2022C>G c.*3622-2022C>G (n.*3622-2022C>G) c.3630G>C (p.Glu1210Asp) c.2754G>C (p.Glu918Asp) c.2103G>C (p.Glu701Asp) c.1707G>C (p.Glu569Asp) c.1449G>C (p.Glu483Asp) | |
| 10 | g.75028616G>T | CA377291823 | DUSP29,KAT6B | c.3792G>T (p.Glu1264Asp) c.3243G>T (p.Glu1081Asp) c.2916G>T (p.Glu972Asp) c.2727G>T (p.Glu909Asp) n.577-2022C>A c.*3622-2022C>A (n.*3622-2022C>A) c.3630G>T (p.Glu1210Asp) c.2754G>T (p.Glu918Asp) c.2103G>T (p.Glu701Asp) c.1707G>T (p.Glu569Asp) c.1449G>T (p.Glu483Asp) | |
| 10 | g.75028617A= | CA1920306402 | DUSP29,KAT6B | c.3793A= (p.Arg1265=) c.3244A= (p.Arg1082=) c.2917A= (p.Arg973=) c.2728A= (p.Arg910=) n.577-2023T= c.*3622-2023T= (n.*3622-2023T=) c.3631A= (p.Arg1211=) c.2755A= (p.Arg919=) c.2104A= (p.Arg702=) c.1708A= (p.Arg570=) c.1450A= (p.Arg484=) | |
| 10 | g.75028617A>C | CA470299526 | DUSP29,KAT6B | c.3793A>C (p.Arg1265=) c.3244A>C (p.Arg1082=) c.2917A>C (p.Arg973=) c.2728A>C (p.Arg910=) n.577-2023T>G c.*3622-2023T>G (n.*3622-2023T>G) c.3631A>C (p.Arg1211=) c.2755A>C (p.Arg919=) c.2104A>C (p.Arg702=) c.1708A>C (p.Arg570=) c.1450A>C (p.Arg484=) | |
| 10 | g.75028617A>G | CA377291826 | DUSP29,KAT6B | c.3793A>G (p.Arg1265Gly) c.3244A>G (p.Arg1082Gly) c.2917A>G (p.Arg973Gly) c.2728A>G (p.Arg910Gly) n.577-2023T>C c.*3622-2023T>C (n.*3622-2023T>C) c.3631A>G (p.Arg1211Gly) c.2755A>G (p.Arg919Gly) c.2104A>G (p.Arg702Gly) c.1708A>G (p.Arg570Gly) c.1450A>G (p.Arg484Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.75028617A>T | CA377291827 | DUSP29,KAT6B | c.3793A>T (p.Arg1265Trp) c.3244A>T (p.Arg1082Trp) c.2917A>T (p.Arg973Trp) c.2728A>T (p.Arg910Trp) n.577-2023T>A c.*3622-2023T>A (n.*3622-2023T>A) c.3631A>T (p.Arg1211Trp) c.2755A>T (p.Arg919Trp) c.2104A>T (p.Arg702Trp) c.1708A>T (p.Arg570Trp) c.1450A>T (p.Arg484Trp) | |
| 10 | g.75028618G>A | CA377291829 | DUSP29,KAT6B | c.3794G>A (p.Arg1265Lys) c.3245G>A (p.Arg1082Lys) c.2918G>A (p.Arg973Lys) c.2729G>A (p.Arg910Lys) n.577-2024C>T c.*3622-2024C>T (n.*3622-2024C>T) c.3632G>A (p.Arg1211Lys) c.2756G>A (p.Arg919Lys) c.2105G>A (p.Arg702Lys) c.1709G>A (p.Arg570Lys) c.1451G>A (p.Arg484Lys) | gnomAD v4 |
| 10 | g.75028618G>C | CA377291831 | DUSP29,KAT6B | c.3794G>C (p.Arg1265Thr) c.3245G>C (p.Arg1082Thr) c.2918G>C (p.Arg973Thr) c.2729G>C (p.Arg910Thr) n.577-2024C>G c.*3622-2024C>G (n.*3622-2024C>G) c.3632G>C (p.Arg1211Thr) c.2756G>C (p.Arg919Thr) c.2105G>C (p.Arg702Thr) c.1709G>C (p.Arg570Thr) c.1451G>C (p.Arg484Thr) | |
| 10 | g.75028618G>T | CA377291835 | DUSP29,KAT6B | c.3794G>T (p.Arg1265Met) c.3245G>T (p.Arg1082Met) c.2918G>T (p.Arg973Met) c.2729G>T (p.Arg910Met) n.577-2024C>A c.*3622-2024C>A (n.*3622-2024C>A) c.3632G>T (p.Arg1211Met) c.2756G>T (p.Arg919Met) c.2105G>T (p.Arg702Met) c.1709G>T (p.Arg570Met) c.1451G>T (p.Arg484Met) | |
| 10 | g.75028619G>A | CA5564906 | DUSP29,KAT6B | c.3795G>A (p.Arg1265=) c.3246G>A (p.Arg1082=) c.2919G>A (p.Arg973=) c.2730G>A (p.Arg910=) n.577-2025C>T c.*3622-2025C>T (n.*3622-2025C>T) c.3633G>A (p.Arg1211=) c.2757G>A (p.Arg919=) c.2106G>A (p.Arg702=) c.1710G>A (p.Arg570=) c.1452G>A (p.Arg484=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.75028619G>C | CA377291840 | DUSP29,KAT6B | c.3795G>C (p.Arg1265Ser) c.3246G>C (p.Arg1082Ser) c.2919G>C (p.Arg973Ser) c.2730G>C (p.Arg910Ser) n.577-2025C>G c.*3622-2025C>G (n.*3622-2025C>G) c.3633G>C (p.Arg1211Ser) c.2757G>C (p.Arg919Ser) c.2106G>C (p.Arg702Ser) c.1710G>C (p.Arg570Ser) c.1452G>C (p.Arg484Ser) | |
| 10 | g.75028619G= | CA1920306403 | DUSP29,KAT6B | c.3795G= (p.Arg1265=) c.3246G= (p.Arg1082=) c.2919G= (p.Arg973=) c.2730G= (p.Arg910=) n.577-2025C= c.*3622-2025C= (n.*3622-2025C=) c.3633G= (p.Arg1211=) c.2757G= (p.Arg919=) c.2106G= (p.Arg702=) c.1710G= (p.Arg570=) c.1452G= (p.Arg484=) | |
| 10 | g.75028619G>T | CA377291843 | DUSP29,KAT6B | c.3795G>T (p.Arg1265Ser) c.3246G>T (p.Arg1082Ser) c.2919G>T (p.Arg973Ser) c.2730G>T (p.Arg910Ser) n.577-2025C>A c.*3622-2025C>A (n.*3622-2025C>A) c.3633G>T (p.Arg1211Ser) c.2757G>T (p.Arg919Ser) c.2106G>T (p.Arg702Ser) c.1710G>T (p.Arg570Ser) c.1452G>T (p.Arg484Ser) | |
| 10 | g.75028620A= | CA1920306404 | DUSP29,KAT6B | c.3796A= (p.Lys1266=) c.3247A= (p.Lys1083=) c.2920A= (p.Lys974=) c.2731A= (p.Lys911=) n.577-2026T= c.*3622-2026T= (n.*3622-2026T=) c.3634A= (p.Lys1212=) c.2758A= (p.Lys920=) c.2107A= (p.Lys703=) c.1711A= (p.Lys571=) c.1453A= (p.Lys485=) | |
| 10 | g.75028620A>C | CA377291851 | DUSP29,KAT6B | c.3796A>C (p.Lys1266Gln) c.3247A>C (p.Lys1083Gln) c.2920A>C (p.Lys974Gln) c.2731A>C (p.Lys911Gln) n.577-2026T>G c.*3622-2026T>G (n.*3622-2026T>G) c.3634A>C (p.Lys1212Gln) c.2758A>C (p.Lys920Gln) c.2107A>C (p.Lys703Gln) c.1711A>C (p.Lys571Gln) c.1453A>C (p.Lys485Gln) | |
| 10 | g.75028620A>G | CA5564907 | DUSP29,KAT6B | c.3796A>G (p.Lys1266Glu) c.3247A>G (p.Lys1083Glu) c.2920A>G (p.Lys974Glu) c.2731A>G (p.Lys911Glu) n.577-2026T>C c.*3622-2026T>C (n.*3622-2026T>C) c.3634A>G (p.Lys1212Glu) c.2758A>G (p.Lys920Glu) c.2107A>G (p.Lys703Glu) c.1711A>G (p.Lys571Glu) c.1453A>G (p.Lys485Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.75028620A>T | CA377291846 | DUSP29,KAT6B | c.3796A>T (p.Lys1266Ter) c.3247A>T (p.Lys1083Ter) c.2920A>T (p.Lys974Ter) c.2731A>T (p.Lys911Ter) n.577-2026T>A c.*3622-2026T>A (n.*3622-2026T>A) c.3634A>T (p.Lys1212Ter) c.2758A>T (p.Lys920Ter) c.2107A>T (p.Lys703Ter) c.1711A>T (p.Lys571Ter) c.1453A>T (p.Lys485Ter) | |
| 10 | g.75028621A>C | CA377291856 | DUSP29,KAT6B | c.3797A>C (p.Lys1266Thr) c.3248A>C (p.Lys1083Thr) c.2921A>C (p.Lys974Thr) c.2732A>C (p.Lys911Thr) n.577-2027T>G c.*3622-2027T>G (n.*3622-2027T>G) c.3635A>C (p.Lys1212Thr) c.2759A>C (p.Lys920Thr) c.2108A>C (p.Lys703Thr) c.1712A>C (p.Lys571Thr) c.1454A>C (p.Lys485Thr) | |
| 10 | g.75028621A>G | CA377291861 | DUSP29,KAT6B | c.3797A>G (p.Lys1266Arg) c.3248A>G (p.Lys1083Arg) c.2921A>G (p.Lys974Arg) c.2732A>G (p.Lys911Arg) n.577-2027T>C c.*3622-2027T>C (n.*3622-2027T>C) c.3635A>G (p.Lys1212Arg) c.2759A>G (p.Lys920Arg) c.2108A>G (p.Lys703Arg) c.1712A>G (p.Lys571Arg) c.1454A>G (p.Lys485Arg) | gnomAD v4 |
| 10 | g.75028621A>T | CA377291864 | DUSP29,KAT6B | c.3797A>T (p.Lys1266Met) c.3248A>T (p.Lys1083Met) c.2921A>T (p.Lys974Met) c.2732A>T (p.Lys911Met) n.577-2027T>A c.*3622-2027T>A (n.*3622-2027T>A) c.3635A>T (p.Lys1212Met) c.2759A>T (p.Lys920Met) c.2108A>T (p.Lys703Met) c.1712A>T (p.Lys571Met) c.1454A>T (p.Lys485Met) | |
| 10 | g.75028622G>A | CA470299527 | DUSP29,KAT6B | c.3798G>A (p.Lys1266=) c.3249G>A (p.Lys1083=) c.2922G>A (p.Lys974=) c.2733G>A (p.Lys911=) n.577-2028C>T c.*3622-2028C>T (n.*3622-2028C>T) c.3636G>A (p.Lys1212=) c.2760G>A (p.Lys920=) c.2109G>A (p.Lys703=) c.1713G>A (p.Lys571=) c.1455G>A (p.Lys485=) | |
| 10 | g.75028622G>C | CA377291868 | DUSP29,KAT6B | c.3798G>C (p.Lys1266Asn) c.3249G>C (p.Lys1083Asn) c.2922G>C (p.Lys974Asn) c.2733G>C (p.Lys911Asn) n.577-2028C>G c.*3622-2028C>G (n.*3622-2028C>G) c.3636G>C (p.Lys1212Asn) c.2760G>C (p.Lys920Asn) c.2109G>C (p.Lys703Asn) c.1713G>C (p.Lys571Asn) c.1455G>C (p.Lys485Asn) | COSMIC |
| 10 | g.75028622G>T | CA377291871 | DUSP29,KAT6B | c.3798G>T (p.Lys1266Asn) c.3249G>T (p.Lys1083Asn) c.2922G>T (p.Lys974Asn) c.2733G>T (p.Lys911Asn) n.577-2028C>A c.*3622-2028C>A (n.*3622-2028C>A) c.3636G>T (p.Lys1212Asn) c.2760G>T (p.Lys920Asn) c.2109G>T (p.Lys703Asn) c.1713G>T (p.Lys571Asn) c.1455G>T (p.Lys485Asn) | |
| 10 | g.75028623A>C | CA377291874 | DUSP29,KAT6B | c.3799A>C (p.Thr1267Pro) c.3250A>C (p.Thr1084Pro) c.2923A>C (p.Thr975Pro) c.2734A>C (p.Thr912Pro) n.577-2029T>G c.*3622-2029T>G (n.*3622-2029T>G) c.3637A>C (p.Thr1213Pro) c.2761A>C (p.Thr921Pro) c.2110A>C (p.Thr704Pro) c.1714A>C (p.Thr572Pro) c.1456A>C (p.Thr486Pro) | |
| 10 | g.75028623A>G | CA377291878 | DUSP29,KAT6B | c.3799A>G (p.Thr1267Ala) c.3250A>G (p.Thr1084Ala) c.2923A>G (p.Thr975Ala) c.2734A>G (p.Thr912Ala) n.577-2029T>C c.*3622-2029T>C (n.*3622-2029T>C) c.3637A>G (p.Thr1213Ala) c.2761A>G (p.Thr921Ala) c.2110A>G (p.Thr704Ala) c.1714A>G (p.Thr572Ala) c.1456A>G (p.Thr486Ala) | |
| 10 | g.75028623A>T | CA377291881 | DUSP29,KAT6B | c.3799A>T (p.Thr1267Ser) c.3250A>T (p.Thr1084Ser) c.2923A>T (p.Thr975Ser) c.2734A>T (p.Thr912Ser) n.577-2029T>A c.*3622-2029T>A (n.*3622-2029T>A) c.3637A>T (p.Thr1213Ser) c.2761A>T (p.Thr921Ser) c.2110A>T (p.Thr704Ser) c.1714A>T (p.Thr572Ser) c.1456A>T (p.Thr486Ser) | gnomAD v4 |
| 10 | g.75028624C>A | CA377291885 | DUSP29,KAT6B | c.3800C>A (p.Thr1267Asn) c.3251C>A (p.Thr1084Asn) c.2924C>A (p.Thr975Asn) c.2735C>A (p.Thr912Asn) n.577-2030G>T c.*3622-2030G>T (n.*3622-2030G>T) c.3638C>A (p.Thr1213Asn) c.2762C>A (p.Thr921Asn) c.2111C>A (p.Thr704Asn) c.1715C>A (p.Thr572Asn) c.1457C>A (p.Thr486Asn) | |
| 10 | g.75028624C= | CA1920306405 | DUSP29,KAT6B | c.3800C= (p.Thr1267=) c.3251C= (p.Thr1084=) c.2924C= (p.Thr975=) c.2735C= (p.Thr912=) n.577-2030G= c.*3622-2030G= (n.*3622-2030G=) c.3638C= (p.Thr1213=) c.2762C= (p.Thr921=) c.2111C= (p.Thr704=) c.1715C= (p.Thr572=) c.1457C= (p.Thr486=) | |
| 10 | g.75028624C>G | CA209709106 | DUSP29,KAT6B | c.3800C>G (p.Thr1267Ser) c.3251C>G (p.Thr1084Ser) c.2924C>G (p.Thr975Ser) c.2735C>G (p.Thr912Ser) n.577-2030G>C c.*3622-2030G>C (n.*3622-2030G>C) c.3638C>G (p.Thr1213Ser) c.2762C>G (p.Thr921Ser) c.2111C>G (p.Thr704Ser) c.1715C>G (p.Thr572Ser) c.1457C>G (p.Thr486Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.75028624C>T | CA377291891 | DUSP29,KAT6B | c.3800C>T (p.Thr1267Ile) c.3251C>T (p.Thr1084Ile) c.2924C>T (p.Thr975Ile) c.2735C>T (p.Thr912Ile) n.577-2030G>A c.*3622-2030G>A (n.*3622-2030G>A) c.3638C>T (p.Thr1213Ile) c.2762C>T (p.Thr921Ile) c.2111C>T (p.Thr704Ile) c.1715C>T (p.Thr572Ile) c.1457C>T (p.Thr486Ile) | |
| 10 | g.75028625C>A | CA470299528 | DUSP29,KAT6B | c.3801C>A (p.Thr1267=) c.3252C>A (p.Thr1084=) c.2925C>A (p.Thr975=) c.2736C>A (p.Thr912=) n.577-2031G>T c.*3622-2031G>T (n.*3622-2031G>T) c.3639C>A (p.Thr1213=) c.2763C>A (p.Thr921=) c.2112C>A (p.Thr704=) c.1716C>A (p.Thr572=) c.1458C>A (p.Thr486=) | |
| 10 | g.75028625C= | CA1920306406 | DUSP29,KAT6B | c.3801C= (p.Thr1267=) c.3252C= (p.Thr1084=) c.2925C= (p.Thr975=) c.2736C= (p.Thr912=) n.577-2031G= c.*3622-2031G= (n.*3622-2031G=) c.3639C= (p.Thr1213=) c.2763C= (p.Thr921=) c.2112C= (p.Thr704=) c.1716C= (p.Thr572=) c.1458C= (p.Thr486=) | |
| 10 | g.75028625C>G | CA470299529 | DUSP29,KAT6B | c.3801C>G (p.Thr1267=) c.3252C>G (p.Thr1084=) c.2925C>G (p.Thr975=) c.2736C>G (p.Thr912=) n.577-2031G>C c.*3622-2031G>C (n.*3622-2031G>C) c.3639C>G (p.Thr1213=) c.2763C>G (p.Thr921=) c.2112C>G (p.Thr704=) c.1716C>G (p.Thr572=) c.1458C>G (p.Thr486=) | dbSNP gnomAD v4 |
| 10 | g.75028625C>T | CA5564908 | DUSP29,KAT6B | c.3801C>T (p.Thr1267=) c.3252C>T (p.Thr1084=) c.2925C>T (p.Thr975=) c.2736C>T (p.Thr912=) n.577-2031G>A c.*3622-2031G>A (n.*3622-2031G>A) c.3639C>T (p.Thr1213=) c.2763C>T (p.Thr921=) c.2112C>T (p.Thr704=) c.1716C>T (p.Thr572=) c.1458C>T (p.Thr486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.75028626G>A | CA5564909 | DUSP29,KAT6B | c.3802G>A (p.Gly1268Arg) c.3253G>A (p.Gly1085Arg) c.2926G>A (p.Gly976Arg) c.2737G>A (p.Gly913Arg) n.577-2032C>T c.*3622-2032C>T (n.*3622-2032C>T) c.3640G>A (p.Gly1214Arg) c.2764G>A (p.Gly922Arg) c.2113G>A (p.Gly705Arg) c.1717G>A (p.Gly573Arg) c.1459G>A (p.Gly487Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.75028626G>C | CA377291900 | DUSP29,KAT6B | c.3802G>C (p.Gly1268Arg) c.3253G>C (p.Gly1085Arg) c.2926G>C (p.Gly976Arg) c.2737G>C (p.Gly913Arg) n.577-2032C>G c.*3622-2032C>G (n.*3622-2032C>G) c.3640G>C (p.Gly1214Arg) c.2764G>C (p.Gly922Arg) c.2113G>C (p.Gly705Arg) c.1717G>C (p.Gly573Arg) c.1459G>C (p.Gly487Arg) | |
| 10 | g.75028626G= | CA1920306407 | DUSP29,KAT6B | c.3802G= (p.Gly1268=) c.3253G= (p.Gly1085=) c.2926G= (p.Gly976=) c.2737G= (p.Gly913=) n.577-2032C= c.*3622-2032C= (n.*3622-2032C=) c.3640G= (p.Gly1214=) c.2764G= (p.Gly922=) c.2113G= (p.Gly705=) c.1717G= (p.Gly573=) c.1459G= (p.Gly487=) | |
| 10 | g.75028626G>T | CA129318 | DUSP29,KAT6B | c.3802G>T (p.Gly1268Ter) c.3253G>T (p.Gly1085Ter) c.2926G>T (p.Gly976Ter) c.2737G>T (p.Gly913Ter) n.577-2032C>A c.*3622-2032C>A (n.*3622-2032C>A) c.3640G>T (p.Gly1214Ter) c.2764G>T (p.Gly922Ter) c.2113G>T (p.Gly705Ter) c.1717G>T (p.Gly573Ter) c.1459G>T (p.Gly487Ter) | ClinVar dbSNP |
| 10 | g.75028627G>A | CA377291905 | DUSP29,KAT6B | c.3803G>A (p.Gly1268Glu) c.3254G>A (p.Gly1085Glu) c.2927G>A (p.Gly976Glu) c.2738G>A (p.Gly913Glu) n.577-2033C>T c.*3622-2033C>T (n.*3622-2033C>T) c.3641G>A (p.Gly1214Glu) c.2765G>A (p.Gly922Glu) c.2114G>A (p.Gly705Glu) c.1718G>A (p.Gly573Glu) c.1460G>A (p.Gly487Glu) | gnomAD v4 |
| 10 | g.75028627G>C | CA377291907 | DUSP29,KAT6B | c.3803G>C (p.Gly1268Ala) c.3254G>C (p.Gly1085Ala) c.2927G>C (p.Gly976Ala) c.2738G>C (p.Gly913Ala) n.577-2033C>G c.*3622-2033C>G (n.*3622-2033C>G) c.3641G>C (p.Gly1214Ala) c.2765G>C (p.Gly922Ala) c.2114G>C (p.Gly705Ala) c.1718G>C (p.Gly573Ala) c.1460G>C (p.Gly487Ala) | COSMIC |
| 10 | g.75028627G>T | CA377291916 | DUSP29,KAT6B | c.3803G>T (p.Gly1268Val) c.3254G>T (p.Gly1085Val) c.2927G>T (p.Gly976Val) c.2738G>T (p.Gly913Val) n.577-2033C>A c.*3622-2033C>A (n.*3622-2033C>A) c.3641G>T (p.Gly1214Val) c.2765G>T (p.Gly922Val) c.2114G>T (p.Gly705Val) c.1718G>T (p.Gly573Val) c.1460G>T (p.Gly487Val) | |
| 10 | g.75028628A>C | CA470299530 | DUSP29,KAT6B | c.3804A>C (p.Gly1268=) c.3255A>C (p.Gly1085=) c.2928A>C (p.Gly976=) c.2739A>C (p.Gly913=) n.577-2034T>G c.*3622-2034T>G (n.*3622-2034T>G) c.3642A>C (p.Gly1214=) c.2766A>C (p.Gly922=) c.2115A>C (p.Gly705=) c.1719A>C (p.Gly573=) c.1461A>C (p.Gly487=) | |
| 10 | g.75028628A>G | CA470299531 | DUSP29,KAT6B | c.3804A>G (p.Gly1268=) c.3255A>G (p.Gly1085=) c.2928A>G (p.Gly976=) c.2739A>G (p.Gly913=) n.577-2034T>C c.*3622-2034T>C (n.*3622-2034T>C) c.3642A>G (p.Gly1214=) c.2766A>G (p.Gly922=) c.2115A>G (p.Gly705=) c.1719A>G (p.Gly573=) c.1461A>G (p.Gly487=) | |
| 10 | g.75028628A>T | CA470299532 | DUSP29,KAT6B | c.3804A>T (p.Gly1268=) c.3255A>T (p.Gly1085=) c.2928A>T (p.Gly976=) c.2739A>T (p.Gly913=) n.577-2034T>A c.*3622-2034T>A (n.*3622-2034T>A) c.3642A>T (p.Gly1214=) c.2766A>T (p.Gly922=) c.2115A>T (p.Gly705=) c.1719A>T (p.Gly573=) c.1461A>T (p.Gly487=) | |
| 10 | g.75028629T>A | CA377291919 | DUSP29,KAT6B | c.3805T>A (p.Phe1269Ile) c.3256T>A (p.Phe1086Ile) c.2929T>A (p.Phe977Ile) c.2740T>A (p.Phe914Ile) n.577-2035A>T c.*3622-2035A>T (n.*3622-2035A>T) c.3643T>A (p.Phe1215Ile) c.2767T>A (p.Phe923Ile) c.2116T>A (p.Phe706Ile) c.1720T>A (p.Phe574Ile) c.1462T>A (p.Phe488Ile) | |
| 10 | g.75028629T>C | CA377291922 | DUSP29,KAT6B | c.3805T>C (p.Phe1269Leu) c.3256T>C (p.Phe1086Leu) c.2929T>C (p.Phe977Leu) c.2740T>C (p.Phe914Leu) n.577-2035A>G c.*3622-2035A>G (n.*3622-2035A>G) c.3643T>C (p.Phe1215Leu) c.2767T>C (p.Phe923Leu) c.2116T>C (p.Phe706Leu) c.1720T>C (p.Phe574Leu) c.1462T>C (p.Phe488Leu) | gnomAD v4 |
| 10 | g.75028629T>G | CA5564910 | DUSP29,KAT6B | c.3805T>G (p.Phe1269Val) c.3256T>G (p.Phe1086Val) c.2929T>G (p.Phe977Val) c.2740T>G (p.Phe914Val) n.577-2035A>C c.*3622-2035A>C (n.*3622-2035A>C) c.3643T>G (p.Phe1215Val) c.2767T>G (p.Phe923Val) c.2116T>G (p.Phe706Val) c.1720T>G (p.Phe574Val) c.1462T>G (p.Phe488Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.75028629T= | CA1920306408 | DUSP29,KAT6B | c.3805T= (p.Phe1269=) c.3256T= (p.Phe1086=) c.2929T= (p.Phe977=) c.2740T= (p.Phe914=) n.577-2035A= c.*3622-2035A= (n.*3622-2035A=) c.3643T= (p.Phe1215=) c.2767T= (p.Phe923=) c.2116T= (p.Phe706=) c.1720T= (p.Phe574=) c.1462T= (p.Phe488=) | |
| 10 | g.75028630T>A | CA377291928 | DUSP29,KAT6B | c.3806T>A (p.Phe1269Tyr) c.3257T>A (p.Phe1086Tyr) c.2930T>A (p.Phe977Tyr) c.2741T>A (p.Phe914Tyr) n.577-2036A>T c.*3622-2036A>T (n.*3622-2036A>T) c.3644T>A (p.Phe1215Tyr) c.2768T>A (p.Phe923Tyr) c.2117T>A (p.Phe706Tyr) c.1721T>A (p.Phe574Tyr) c.1463T>A (p.Phe488Tyr) |