Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
10 | g.75028630T>C | CA377291934 | DUSP29,KAT6B | c.3806T>C (p.Phe1269Ser) c.3257T>C (p.Phe1086Ser) c.2930T>C (p.Phe977Ser) c.2741T>C (p.Phe914Ser) n.577-2036A>G c.*3622-2036A>G (n.*3622-2036A>G) c.3644T>C (p.Phe1215Ser) c.2768T>C (p.Phe923Ser) c.2117T>C (p.Phe706Ser) c.1721T>C (p.Phe574Ser) c.1463T>C (p.Phe488Ser) | |
10 | g.75028630T>G | CA377291931 | DUSP29,KAT6B | c.3806T>G (p.Phe1269Cys) c.3257T>G (p.Phe1086Cys) c.2930T>G (p.Phe977Cys) c.2741T>G (p.Phe914Cys) n.577-2036A>C c.*3622-2036A>C (n.*3622-2036A>C) c.3644T>G (p.Phe1215Cys) c.2768T>G (p.Phe923Cys) c.2117T>G (p.Phe706Cys) c.1721T>G (p.Phe574Cys) c.1463T>G (p.Phe488Cys) | |
10 | g.75028631T>A | CA377291938 | DUSP29,KAT6B | c.3807T>A (p.Phe1269Leu) c.3258T>A (p.Phe1086Leu) c.2931T>A (p.Phe977Leu) c.2742T>A (p.Phe914Leu) n.577-2037A>T c.*3622-2037A>T (n.*3622-2037A>T) c.3645T>A (p.Phe1215Leu) c.2769T>A (p.Phe923Leu) c.2118T>A (p.Phe706Leu) c.1722T>A (p.Phe574Leu) c.1464T>A (p.Phe488Leu) | |
10 | g.75028631T>C | CA470299533 | DUSP29,KAT6B | c.3807T>C (p.Phe1269=) c.3258T>C (p.Phe1086=) c.2931T>C (p.Phe977=) c.2742T>C (p.Phe914=) n.577-2037A>G c.*3622-2037A>G (n.*3622-2037A>G) c.3645T>C (p.Phe1215=) c.2769T>C (p.Phe923=) c.2118T>C (p.Phe706=) c.1722T>C (p.Phe574=) c.1464T>C (p.Phe488=) | dbSNP |
10 | g.75028631T>G | CA377291940 | DUSP29,KAT6B | c.3807T>G (p.Phe1269Leu) c.3258T>G (p.Phe1086Leu) c.2931T>G (p.Phe977Leu) c.2742T>G (p.Phe914Leu) n.577-2037A>C c.*3622-2037A>C (n.*3622-2037A>C) c.3645T>G (p.Phe1215Leu) c.2769T>G (p.Phe923Leu) c.2118T>G (p.Phe706Leu) c.1722T>G (p.Phe574Leu) c.1464T>G (p.Phe488Leu) | |
10 | g.75028632A>C | CA377291943 | DUSP29,KAT6B | c.3808A>C (p.Lys1270Gln) c.3259A>C (p.Lys1087Gln) c.2932A>C (p.Lys978Gln) c.2743A>C (p.Lys915Gln) n.577-2038T>G c.*3622-2038T>G (n.*3622-2038T>G) c.3646A>C (p.Lys1216Gln) c.2770A>C (p.Lys924Gln) c.2119A>C (p.Lys707Gln) c.1723A>C (p.Lys575Gln) c.1465A>C (p.Lys489Gln) | |
10 | g.75028632A>G | CA377291945 | DUSP29,KAT6B | c.3808A>G (p.Lys1270Glu) c.3259A>G (p.Lys1087Glu) c.2932A>G (p.Lys978Glu) c.2743A>G (p.Lys915Glu) n.577-2038T>C c.*3622-2038T>C (n.*3622-2038T>C) c.3646A>G (p.Lys1216Glu) c.2770A>G (p.Lys924Glu) c.2119A>G (p.Lys707Glu) c.1723A>G (p.Lys575Glu) c.1465A>G (p.Lys489Glu) | |
10 | g.75028632A>T | CA377291947 | DUSP29,KAT6B | c.3808A>T (p.Lys1270Ter) c.3259A>T (p.Lys1087Ter) c.2932A>T (p.Lys978Ter) c.2743A>T (p.Lys915Ter) n.577-2038T>A c.*3622-2038T>A (n.*3622-2038T>A) c.3646A>T (p.Lys1216Ter) c.2770A>T (p.Lys924Ter) c.2119A>T (p.Lys707Ter) c.1723A>T (p.Lys575Ter) c.1465A>T (p.Lys489Ter) | |
10 | g.75028633A>C | CA377291957 | DUSP29,KAT6B | c.3809A>C (p.Lys1270Thr) c.3260A>C (p.Lys1087Thr) c.2933A>C (p.Lys978Thr) c.2744A>C (p.Lys915Thr) n.577-2039T>G c.*3622-2039T>G (n.*3622-2039T>G) c.3647A>C (p.Lys1216Thr) c.2771A>C (p.Lys924Thr) c.2120A>C (p.Lys707Thr) c.1724A>C (p.Lys575Thr) c.1466A>C (p.Lys489Thr) | |
10 | g.75028633A>G | CA377291954 | DUSP29,KAT6B | c.3809A>G (p.Lys1270Arg) c.3260A>G (p.Lys1087Arg) c.2933A>G (p.Lys978Arg) c.2744A>G (p.Lys915Arg) n.577-2039T>C c.*3622-2039T>C (n.*3622-2039T>C) c.3647A>G (p.Lys1216Arg) c.2771A>G (p.Lys924Arg) c.2120A>G (p.Lys707Arg) c.1724A>G (p.Lys575Arg) c.1466A>G (p.Lys489Arg) | |
10 | g.75028633A>T | CA377291953 | DUSP29,KAT6B | c.3809A>T (p.Lys1270Ile) c.3260A>T (p.Lys1087Ile) c.2933A>T (p.Lys978Ile) c.2744A>T (p.Lys915Ile) n.577-2039T>A c.*3622-2039T>A (n.*3622-2039T>A) c.3647A>T (p.Lys1216Ile) c.2771A>T (p.Lys924Ile) c.2120A>T (p.Lys707Ile) c.1724A>T (p.Lys575Ile) c.1466A>T (p.Lys489Ile) | |
10 | g.75028634A>C | CA377291960 | DUSP29,KAT6B | c.3810A>C (p.Lys1270Asn) c.3261A>C (p.Lys1087Asn) c.2934A>C (p.Lys978Asn) c.2745A>C (p.Lys915Asn) n.577-2040T>G c.*3622-2040T>G (n.*3622-2040T>G) c.3648A>C (p.Lys1216Asn) c.2772A>C (p.Lys924Asn) c.2121A>C (p.Lys707Asn) c.1725A>C (p.Lys575Asn) c.1467A>C (p.Lys489Asn) | |
10 | g.75028634A>G | CA470299539 | DUSP29,KAT6B | c.3810A>G (p.Lys1270=) c.3261A>G (p.Lys1087=) c.2934A>G (p.Lys978=) c.2745A>G (p.Lys915=) n.577-2040T>C c.*3622-2040T>C (n.*3622-2040T>C) c.3648A>G (p.Lys1216=) c.2772A>G (p.Lys924=) c.2121A>G (p.Lys707=) c.1725A>G (p.Lys575=) c.1467A>G (p.Lys489=) | |
10 | g.75028634A>T | CA377291963 | DUSP29,KAT6B | c.3810A>T (p.Lys1270Asn) c.3261A>T (p.Lys1087Asn) c.2934A>T (p.Lys978Asn) c.2745A>T (p.Lys915Asn) n.577-2040T>A c.*3622-2040T>A (n.*3622-2040T>A) c.3648A>T (p.Lys1216Asn) c.2772A>T (p.Lys924Asn) c.2121A>T (p.Lys707Asn) c.1725A>T (p.Lys575Asn) c.1467A>T (p.Lys489Asn) | |
10 | g.75028635C>A | CA377291966 | DUSP29,KAT6B | c.3811C>A (p.Leu1271Met) c.3262C>A (p.Leu1088Met) c.2935C>A (p.Leu979Met) c.2746C>A (p.Leu916Met) n.577-2041G>T c.*3622-2041G>T (n.*3622-2041G>T) c.3649C>A (p.Leu1217Met) c.2773C>A (p.Leu925Met) c.2122C>A (p.Leu708Met) c.1726C>A (p.Leu576Met) c.1468C>A (p.Leu490Met) | |
10 | g.75028635C= | CA1920306409 | DUSP29,KAT6B | c.3811C= (p.Leu1271=) c.3262C= (p.Leu1088=) c.2935C= (p.Leu979=) c.2746C= (p.Leu916=) n.577-2041G= c.*3622-2041G= (n.*3622-2041G=) c.3649C= (p.Leu1217=) c.2773C= (p.Leu925=) c.2122C= (p.Leu708=) c.1726C= (p.Leu576=) c.1468C= (p.Leu490=) | |
10 | g.75028635C>G | CA377291969 | DUSP29,KAT6B | c.3811C>G (p.Leu1271Val) c.3262C>G (p.Leu1088Val) c.2935C>G (p.Leu979Val) c.2746C>G (p.Leu916Val) n.577-2041G>C c.*3622-2041G>C (n.*3622-2041G>C) c.3649C>G (p.Leu1217Val) c.2773C>G (p.Leu925Val) c.2122C>G (p.Leu708Val) c.1726C>G (p.Leu576Val) c.1468C>G (p.Leu490Val) | |
10 | g.75028635C>T | CA470299540 | DUSP29,KAT6B | c.3811C>T (p.Leu1271=) c.3262C>T (p.Leu1088=) c.2935C>T (p.Leu979=) c.2746C>T (p.Leu916=) n.577-2041G>A c.*3622-2041G>A (n.*3622-2041G>A) c.3649C>T (p.Leu1217=) c.2773C>T (p.Leu925=) c.2122C>T (p.Leu708=) c.1726C>T (p.Leu576=) c.1468C>T (p.Leu490=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.75028636T>A | CA377291972 | DUSP29,KAT6B | c.3812T>A (p.Leu1271Gln) c.3263T>A (p.Leu1088Gln) c.2936T>A (p.Leu979Gln) c.2747T>A (p.Leu916Gln) n.577-2042A>T c.*3622-2042A>T (n.*3622-2042A>T) c.3650T>A (p.Leu1217Gln) c.2774T>A (p.Leu925Gln) c.2123T>A (p.Leu708Gln) c.1727T>A (p.Leu576Gln) c.1469T>A (p.Leu490Gln) | |
10 | g.75028636T>C | CA377291975 | DUSP29,KAT6B | c.3812T>C (p.Leu1271Pro) c.3263T>C (p.Leu1088Pro) c.2936T>C (p.Leu979Pro) c.2747T>C (p.Leu916Pro) n.577-2042A>G c.*3622-2042A>G (n.*3622-2042A>G) c.3650T>C (p.Leu1217Pro) c.2774T>C (p.Leu925Pro) c.2123T>C (p.Leu708Pro) c.1727T>C (p.Leu576Pro) c.1469T>C (p.Leu490Pro) | |
10 | g.75028636T>G | CA377291978 | DUSP29,KAT6B | c.3812T>G (p.Leu1271Arg) c.3263T>G (p.Leu1088Arg) c.2936T>G (p.Leu979Arg) c.2747T>G (p.Leu916Arg) n.577-2042A>C c.*3622-2042A>C (n.*3622-2042A>C) c.3650T>G (p.Leu1217Arg) c.2774T>G (p.Leu925Arg) c.2123T>G (p.Leu708Arg) c.1727T>G (p.Leu576Arg) c.1469T>G (p.Leu490Arg) | |
10 | g.75028637G>A | CA470299541 | DUSP29,KAT6B | c.3813G>A (p.Leu1271=) c.3264G>A (p.Leu1088=) c.2937G>A (p.Leu979=) c.2748G>A (p.Leu916=) n.577-2043C>T c.*3622-2043C>T (n.*3622-2043C>T) c.3651G>A (p.Leu1217=) c.2775G>A (p.Leu925=) c.2124G>A (p.Leu708=) c.1728G>A (p.Leu576=) c.1470G>A (p.Leu490=) | |
10 | g.75028637G>C | CA470299542 | DUSP29,KAT6B | c.3813G>C (p.Leu1271=) c.3264G>C (p.Leu1088=) c.2937G>C (p.Leu979=) c.2748G>C (p.Leu916=) n.577-2043C>G c.*3622-2043C>G (n.*3622-2043C>G) c.3651G>C (p.Leu1217=) c.2775G>C (p.Leu925=) c.2124G>C (p.Leu708=) c.1728G>C (p.Leu576=) c.1470G>C (p.Leu490=) | |
10 | g.75028637G>T | CA470299543 | DUSP29,KAT6B | c.3813G>T (p.Leu1271=) c.3264G>T (p.Leu1088=) c.2937G>T (p.Leu979=) c.2748G>T (p.Leu916=) n.577-2043C>A c.*3622-2043C>A (n.*3622-2043C>A) c.3651G>T (p.Leu1217=) c.2775G>T (p.Leu925=) c.2124G>T (p.Leu708=) c.1728G>T (p.Leu576=) c.1470G>T (p.Leu490=) | |
10 | g.75028638A>C | CA377291982 | DUSP29,KAT6B | c.3814A>C (p.Asn1272His) c.3265A>C (p.Asn1089His) c.2938A>C (p.Asn980His) c.2749A>C (p.Asn917His) n.577-2044T>G c.*3622-2044T>G (n.*3622-2044T>G) c.3652A>C (p.Asn1218His) c.2776A>C (p.Asn926His) c.2125A>C (p.Asn709His) c.1729A>C (p.Asn577His) c.1471A>C (p.Asn491His) | |
10 | g.75028638A>G | CA377291985 | DUSP29,KAT6B | c.3814A>G (p.Asn1272Asp) c.3265A>G (p.Asn1089Asp) c.2938A>G (p.Asn980Asp) c.2749A>G (p.Asn917Asp) n.577-2044T>C c.*3622-2044T>C (n.*3622-2044T>C) c.3652A>G (p.Asn1218Asp) c.2776A>G (p.Asn926Asp) c.2125A>G (p.Asn709Asp) c.1729A>G (p.Asn577Asp) c.1471A>G (p.Asn491Asp) | |
10 | g.75028638A>T | CA377291988 | DUSP29,KAT6B | c.3814A>T (p.Asn1272Tyr) c.3265A>T (p.Asn1089Tyr) c.2938A>T (p.Asn980Tyr) c.2749A>T (p.Asn917Tyr) n.577-2044T>A c.*3622-2044T>A (n.*3622-2044T>A) c.3652A>T (p.Asn1218Tyr) c.2776A>T (p.Asn926Tyr) c.2125A>T (p.Asn709Tyr) c.1729A>T (p.Asn577Tyr) c.1471A>T (p.Asn491Tyr) | |
10 | g.75028639A>C | CA377291992 | DUSP29,KAT6B | c.3815A>C (p.Asn1272Thr) c.3266A>C (p.Asn1089Thr) c.2939A>C (p.Asn980Thr) c.2750A>C (p.Asn917Thr) n.577-2045T>G c.*3622-2045T>G (n.*3622-2045T>G) c.3653A>C (p.Asn1218Thr) c.2777A>C (p.Asn926Thr) c.2126A>C (p.Asn709Thr) c.1730A>C (p.Asn577Thr) c.1472A>C (p.Asn491Thr) | |
10 | g.75028639A>G | CA377291994 | DUSP29,KAT6B | c.3815A>G (p.Asn1272Ser) c.3266A>G (p.Asn1089Ser) c.2939A>G (p.Asn980Ser) c.2750A>G (p.Asn917Ser) n.577-2045T>C c.*3622-2045T>C (n.*3622-2045T>C) c.3653A>G (p.Asn1218Ser) c.2777A>G (p.Asn926Ser) c.2126A>G (p.Asn709Ser) c.1730A>G (p.Asn577Ser) c.1472A>G (p.Asn491Ser) | |
10 | g.75028639A>T | CA377291997 | DUSP29,KAT6B | c.3815A>T (p.Asn1272Ile) c.3266A>T (p.Asn1089Ile) c.2939A>T (p.Asn980Ile) c.2750A>T (p.Asn917Ile) n.577-2045T>A c.*3622-2045T>A (n.*3622-2045T>A) c.3653A>T (p.Asn1218Ile) c.2777A>T (p.Asn926Ile) c.2126A>T (p.Asn709Ile) c.1730A>T (p.Asn577Ile) c.1472A>T (p.Asn491Ile) | |
10 | g.75028640T>A | CA377292000 | DUSP29,KAT6B | c.3816T>A (p.Asn1272Lys) c.3267T>A (p.Asn1089Lys) c.2940T>A (p.Asn980Lys) c.2751T>A (p.Asn917Lys) n.577-2046A>T c.*3622-2046A>T (n.*3622-2046A>T) c.3654T>A (p.Asn1218Lys) c.2778T>A (p.Asn926Lys) c.2127T>A (p.Asn709Lys) c.1731T>A (p.Asn577Lys) c.1473T>A (p.Asn491Lys) | |
10 | g.75028640T>C | CA470299544 | DUSP29,KAT6B | c.3816T>C (p.Asn1272=) c.3267T>C (p.Asn1089=) c.2940T>C (p.Asn980=) c.2751T>C (p.Asn917=) n.577-2046A>G c.*3622-2046A>G (n.*3622-2046A>G) c.3654T>C (p.Asn1218=) c.2778T>C (p.Asn926=) c.2127T>C (p.Asn709=) c.1731T>C (p.Asn577=) c.1473T>C (p.Asn491=) | gnomAD v4 |
10 | g.75028640T>G | CA377292003 | DUSP29,KAT6B | c.3816T>G (p.Asn1272Lys) c.3267T>G (p.Asn1089Lys) c.2940T>G (p.Asn980Lys) c.2751T>G (p.Asn917Lys) n.577-2046A>C c.*3622-2046A>C (n.*3622-2046A>C) c.3654T>G (p.Asn1218Lys) c.2778T>G (p.Asn926Lys) c.2127T>G (p.Asn709Lys) c.1731T>G (p.Asn577Lys) c.1473T>G (p.Asn491Lys) | |
10 | g.75028641T>A | CA377292006 | DUSP29,KAT6B | c.3817T>A (p.Leu1273Met) c.3268T>A (p.Leu1090Met) c.2941T>A (p.Leu981Met) c.2752T>A (p.Leu918Met) n.577-2047A>T c.*3622-2047A>T (n.*3622-2047A>T) c.3655T>A (p.Leu1219Met) c.2779T>A (p.Leu927Met) c.2128T>A (p.Leu710Met) c.1732T>A (p.Leu578Met) c.1474T>A (p.Leu492Met) | |
10 | g.75028641T>C | CA470299545 | DUSP29,KAT6B | c.3817T>C (p.Leu1273=) c.3268T>C (p.Leu1090=) c.2941T>C (p.Leu981=) c.2752T>C (p.Leu918=) n.577-2047A>G c.*3622-2047A>G (n.*3622-2047A>G) c.3655T>C (p.Leu1219=) c.2779T>C (p.Leu927=) c.2128T>C (p.Leu710=) c.1732T>C (p.Leu578=) c.1474T>C (p.Leu492=) | |
10 | g.75028641T>G | CA377292008 | DUSP29,KAT6B | c.3817T>G (p.Leu1273Val) c.3268T>G (p.Leu1090Val) c.2941T>G (p.Leu981Val) c.2752T>G (p.Leu918Val) n.577-2047A>C c.*3622-2047A>C (n.*3622-2047A>C) c.3655T>G (p.Leu1219Val) c.2779T>G (p.Leu927Val) c.2128T>G (p.Leu710Val) c.1732T>G (p.Leu578Val) c.1474T>G (p.Leu492Val) | |
10 | g.75028642T>A | CA377292012 | DUSP29,KAT6B | c.3818T>A (p.Leu1273Ter) c.3269T>A (p.Leu1090Ter) c.2942T>A (p.Leu981Ter) c.2753T>A (p.Leu918Ter) n.577-2048A>T c.*3622-2048A>T (n.*3622-2048A>T) c.3656T>A (p.Leu1219Ter) c.2780T>A (p.Leu927Ter) c.2129T>A (p.Leu710Ter) c.1733T>A (p.Leu578Ter) c.1475T>A (p.Leu492Ter) | |
10 | g.75028642T>C | CA377292018 | DUSP29,KAT6B | c.3818T>C (p.Leu1273Ser) c.3269T>C (p.Leu1090Ser) c.2942T>C (p.Leu981Ser) c.2753T>C (p.Leu918Ser) n.577-2048A>G c.*3622-2048A>G (n.*3622-2048A>G) c.3656T>C (p.Leu1219Ser) c.2780T>C (p.Leu927Ser) c.2129T>C (p.Leu710Ser) c.1733T>C (p.Leu578Ser) c.1475T>C (p.Leu492Ser) | |
10 | g.75028642T>G | CA377292014 | DUSP29,KAT6B | c.3818T>G (p.Leu1273Trp) c.3269T>G (p.Leu1090Trp) c.2942T>G (p.Leu981Trp) c.2753T>G (p.Leu918Trp) n.577-2048A>C c.*3622-2048A>C (n.*3622-2048A>C) c.3656T>G (p.Leu1219Trp) c.2780T>G (p.Leu927Trp) c.2129T>G (p.Leu710Trp) c.1733T>G (p.Leu578Trp) c.1475T>G (p.Leu492Trp) | |
10 | g.75028643G>A | CA470299546 | DUSP29,KAT6B | c.3819G>A (p.Leu1273=) c.3270G>A (p.Leu1090=) c.2943G>A (p.Leu981=) c.2754G>A (p.Leu918=) n.577-2049C>T c.*3622-2049C>T (n.*3622-2049C>T) c.3657G>A (p.Leu1219=) c.2781G>A (p.Leu927=) c.2130G>A (p.Leu710=) c.1734G>A (p.Leu578=) c.1476G>A (p.Leu492=) | |
10 | g.75028643G>C | CA377292021 | DUSP29,KAT6B | c.3819G>C (p.Leu1273Phe) c.3270G>C (p.Leu1090Phe) c.2943G>C (p.Leu981Phe) c.2754G>C (p.Leu918Phe) n.577-2049C>G c.*3622-2049C>G (n.*3622-2049C>G) c.3657G>C (p.Leu1219Phe) c.2781G>C (p.Leu927Phe) c.2130G>C (p.Leu710Phe) c.1734G>C (p.Leu578Phe) c.1476G>C (p.Leu492Phe) | |
10 | g.75028643G>T | CA377292025 | DUSP29,KAT6B | c.3819G>T (p.Leu1273Phe) c.3270G>T (p.Leu1090Phe) c.2943G>T (p.Leu981Phe) c.2754G>T (p.Leu918Phe) n.577-2049C>A c.*3622-2049C>A (n.*3622-2049C>A) c.3657G>T (p.Leu1219Phe) c.2781G>T (p.Leu927Phe) c.2130G>T (p.Leu710Phe) c.1734G>T (p.Leu578Phe) c.1476G>T (p.Leu492Phe) | |
10 | g.75028644T>A | CA377292028 | DUSP29,KAT6B | c.3820T>A (p.Tyr1274Asn) c.3271T>A (p.Tyr1091Asn) c.2944T>A (p.Tyr982Asn) c.2755T>A (p.Tyr919Asn) n.577-2050A>T c.*3622-2050A>T (n.*3622-2050A>T) c.3658T>A (p.Tyr1220Asn) c.2782T>A (p.Tyr928Asn) c.2131T>A (p.Tyr711Asn) c.1735T>A (p.Tyr579Asn) c.1477T>A (p.Tyr493Asn) | |
10 | g.75028644T>C | CA377292031 | DUSP29,KAT6B | c.3820T>C (p.Tyr1274His) c.3271T>C (p.Tyr1091His) c.2944T>C (p.Tyr982His) c.2755T>C (p.Tyr919His) n.577-2050A>G c.*3622-2050A>G (n.*3622-2050A>G) c.3658T>C (p.Tyr1220His) c.2782T>C (p.Tyr928His) c.2131T>C (p.Tyr711His) c.1735T>C (p.Tyr579His) c.1477T>C (p.Tyr493His) | gnomAD v4 |
10 | g.75028644T>G | CA377292034 | DUSP29,KAT6B | c.3820T>G (p.Tyr1274Asp) c.3271T>G (p.Tyr1091Asp) c.2944T>G (p.Tyr982Asp) c.2755T>G (p.Tyr919Asp) n.577-2050A>C c.*3622-2050A>C (n.*3622-2050A>C) c.3658T>G (p.Tyr1220Asp) c.2782T>G (p.Tyr928Asp) c.2131T>G (p.Tyr711Asp) c.1735T>G (p.Tyr579Asp) c.1477T>G (p.Tyr493Asp) | |
10 | g.75028645A= | CA1920306410 | DUSP29,KAT6B | c.3821A= (p.Tyr1274=) c.3272A= (p.Tyr1091=) c.2945A= (p.Tyr982=) c.2756A= (p.Tyr919=) n.577-2051T= c.*3622-2051T= (n.*3622-2051T=) c.3659A= (p.Tyr1220=) c.2783A= (p.Tyr928=) c.2132A= (p.Tyr711=) c.1736A= (p.Tyr579=) c.1478A= (p.Tyr493=) | |
10 | g.75028645A>C | CA377292038 | DUSP29,KAT6B | c.3821A>C (p.Tyr1274Ser) c.3272A>C (p.Tyr1091Ser) c.2945A>C (p.Tyr982Ser) c.2756A>C (p.Tyr919Ser) n.577-2051T>G c.*3622-2051T>G (n.*3622-2051T>G) c.3659A>C (p.Tyr1220Ser) c.2783A>C (p.Tyr928Ser) c.2132A>C (p.Tyr711Ser) c.1736A>C (p.Tyr579Ser) c.1478A>C (p.Tyr493Ser) | |
10 | g.75028645A>G | CA209709127 | DUSP29,KAT6B | c.3821A>G (p.Tyr1274Cys) c.3272A>G (p.Tyr1091Cys) c.2945A>G (p.Tyr982Cys) c.2756A>G (p.Tyr919Cys) n.577-2051T>C c.*3622-2051T>C (n.*3622-2051T>C) c.3659A>G (p.Tyr1220Cys) c.2783A>G (p.Tyr928Cys) c.2132A>G (p.Tyr711Cys) c.1736A>G (p.Tyr579Cys) c.1478A>G (p.Tyr493Cys) | dbSNP |
10 | g.75028645A>T | CA377292041 | DUSP29,KAT6B | c.3821A>T (p.Tyr1274Phe) c.3272A>T (p.Tyr1091Phe) c.2945A>T (p.Tyr982Phe) c.2756A>T (p.Tyr919Phe) n.577-2051T>A c.*3622-2051T>A (n.*3622-2051T>A) c.3659A>T (p.Tyr1220Phe) c.2783A>T (p.Tyr928Phe) c.2132A>T (p.Tyr711Phe) c.1736A>T (p.Tyr579Phe) c.1478A>T (p.Tyr493Phe) | |
10 | g.75028646C>A | CA377292048 | DUSP29,KAT6B | c.3822C>A (p.Tyr1274Ter) c.3273C>A (p.Tyr1091Ter) c.2946C>A (p.Tyr982Ter) c.2757C>A (p.Tyr919Ter) n.577-2052G>T c.*3622-2052G>T (n.*3622-2052G>T) c.3660C>A (p.Tyr1220Ter) c.2784C>A (p.Tyr928Ter) c.2133C>A (p.Tyr711Ter) c.1737C>A (p.Tyr579Ter) c.1479C>A (p.Tyr493Ter) | |
10 | g.75028646C>G | CA377292050 | DUSP29,KAT6B | c.3822C>G (p.Tyr1274Ter) c.3273C>G (p.Tyr1091Ter) c.2946C>G (p.Tyr982Ter) c.2757C>G (p.Tyr919Ter) n.577-2052G>C c.*3622-2052G>C (n.*3622-2052G>C) c.3660C>G (p.Tyr1220Ter) c.2784C>G (p.Tyr928Ter) c.2133C>G (p.Tyr711Ter) c.1737C>G (p.Tyr579Ter) c.1479C>G (p.Tyr493Ter) | |
10 | g.75028646C>T | CA470299547 | DUSP29,KAT6B | c.3822C>T (p.Tyr1274=) c.3273C>T (p.Tyr1091=) c.2946C>T (p.Tyr982=) c.2757C>T (p.Tyr919=) n.577-2052G>A c.*3622-2052G>A (n.*3622-2052G>A) c.3660C>T (p.Tyr1220=) c.2784C>T (p.Tyr928=) c.2133C>T (p.Tyr711=) c.1737C>T (p.Tyr579=) c.1479C>T (p.Tyr493=) | |
10 | g.75028647A= | CA1920306411 | DUSP29,KAT6B | c.3823A= (p.Thr1275=) c.3274A= (p.Thr1092=) c.2947A= (p.Thr983=) c.2758A= (p.Thr920=) n.577-2053T= c.*3622-2053T= (n.*3622-2053T=) c.3661A= (p.Thr1221=) c.2785A= (p.Thr929=) c.2134A= (p.Thr712=) c.1738A= (p.Thr580=) c.1480A= (p.Thr494=) | |
10 | g.75028647A>C | CA377292059 | DUSP29,KAT6B | c.3823A>C (p.Thr1275Pro) c.3274A>C (p.Thr1092Pro) c.2947A>C (p.Thr983Pro) c.2758A>C (p.Thr920Pro) n.577-2053T>G c.*3622-2053T>G (n.*3622-2053T>G) c.3661A>C (p.Thr1221Pro) c.2785A>C (p.Thr929Pro) c.2134A>C (p.Thr712Pro) c.1738A>C (p.Thr580Pro) c.1480A>C (p.Thr494Pro) | dbSNP |
10 | g.75028647A>G | CA377292057 | DUSP29,KAT6B | c.3823A>G (p.Thr1275Ala) c.3274A>G (p.Thr1092Ala) c.2947A>G (p.Thr983Ala) c.2758A>G (p.Thr920Ala) n.577-2053T>C c.*3622-2053T>C (n.*3622-2053T>C) c.3661A>G (p.Thr1221Ala) c.2785A>G (p.Thr929Ala) c.2134A>G (p.Thr712Ala) c.1738A>G (p.Thr580Ala) c.1480A>G (p.Thr494Ala) | |
10 | g.75028647A>T | CA377292055 | DUSP29,KAT6B | c.3823A>T (p.Thr1275Ser) c.3274A>T (p.Thr1092Ser) c.2947A>T (p.Thr983Ser) c.2758A>T (p.Thr920Ser) n.577-2053T>A c.*3622-2053T>A (n.*3622-2053T>A) c.3661A>T (p.Thr1221Ser) c.2785A>T (p.Thr929Ser) c.2134A>T (p.Thr712Ser) c.1738A>T (p.Thr580Ser) c.1480A>T (p.Thr494Ser) | |
10 | g.75028648C>A | CA377292068 | DUSP29,KAT6B | c.3824C>A (p.Thr1275Asn) c.3275C>A (p.Thr1092Asn) c.2948C>A (p.Thr983Asn) c.2759C>A (p.Thr920Asn) n.577-2054G>T c.*3622-2054G>T (n.*3622-2054G>T) c.3662C>A (p.Thr1221Asn) c.2786C>A (p.Thr929Asn) c.2135C>A (p.Thr712Asn) c.1739C>A (p.Thr580Asn) c.1481C>A (p.Thr494Asn) | gnomAD v4 |
10 | g.75028648C= | CA1920306412 | DUSP29,KAT6B | c.3824C= (p.Thr1275=) c.3275C= (p.Thr1092=) c.2948C= (p.Thr983=) c.2759C= (p.Thr920=) n.577-2054G= c.*3622-2054G= (n.*3622-2054G=) c.3662C= (p.Thr1221=) c.2786C= (p.Thr929=) c.2135C= (p.Thr712=) c.1739C= (p.Thr580=) c.1481C= (p.Thr494=) | |
10 | g.75028648C>G | CA377292070 | DUSP29,KAT6B | c.3824C>G (p.Thr1275Ser) c.3275C>G (p.Thr1092Ser) c.2948C>G (p.Thr983Ser) c.2759C>G (p.Thr920Ser) n.577-2054G>C c.*3622-2054G>C (n.*3622-2054G>C) c.3662C>G (p.Thr1221Ser) c.2786C>G (p.Thr929Ser) c.2135C>G (p.Thr712Ser) c.1739C>G (p.Thr580Ser) c.1481C>G (p.Thr494Ser) | |
10 | g.75028648C>T | CA5564911 | DUSP29,KAT6B | c.3824C>T (p.Thr1275Ile) c.3275C>T (p.Thr1092Ile) c.2948C>T (p.Thr983Ile) c.2759C>T (p.Thr920Ile) n.577-2054G>A c.*3622-2054G>A (n.*3622-2054G>A) c.3662C>T (p.Thr1221Ile) c.2786C>T (p.Thr929Ile) c.2135C>T (p.Thr712Ile) c.1739C>T (p.Thr580Ile) c.1481C>T (p.Thr494Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.75028649C>A | CA470299548 | DUSP29,KAT6B | c.3825C>A (p.Thr1275=) c.3276C>A (p.Thr1092=) c.2949C>A (p.Thr983=) c.2760C>A (p.Thr920=) n.577-2055G>T c.*3622-2055G>T (n.*3622-2055G>T) c.3663C>A (p.Thr1221=) c.2787C>A (p.Thr929=) c.2136C>A (p.Thr712=) c.1740C>A (p.Thr580=) c.1482C>A (p.Thr494=) | |
10 | g.75028649C>G | CA470299549 | DUSP29,KAT6B | c.3825C>G (p.Thr1275=) c.3276C>G (p.Thr1092=) c.2949C>G (p.Thr983=) c.2760C>G (p.Thr920=) n.577-2055G>C c.*3622-2055G>C (n.*3622-2055G>C) c.3663C>G (p.Thr1221=) c.2787C>G (p.Thr929=) c.2136C>G (p.Thr712=) c.1740C>G (p.Thr580=) c.1482C>G (p.Thr494=) | gnomAD v4 |
10 | g.75028649C>T | CA470299550 | DUSP29,KAT6B | c.3825C>T (p.Thr1275=) c.3276C>T (p.Thr1092=) c.2949C>T (p.Thr983=) c.2760C>T (p.Thr920=) n.577-2055G>A c.*3622-2055G>A (n.*3622-2055G>A) c.3663C>T (p.Thr1221=) c.2787C>T (p.Thr929=) c.2136C>T (p.Thr712=) c.1740C>T (p.Thr580=) c.1482C>T (p.Thr494=) | |
10 | g.75028650C>A | CA377292076 | DUSP29,KAT6B | c.3826C>A (p.Pro1276Thr) c.3277C>A (p.Pro1093Thr) c.2950C>A (p.Pro984Thr) c.2761C>A (p.Pro921Thr) n.577-2056G>T c.*3622-2056G>T (n.*3622-2056G>T) c.3664C>A (p.Pro1222Thr) c.2788C>A (p.Pro930Thr) c.2137C>A (p.Pro713Thr) c.1741C>A (p.Pro581Thr) c.1483C>A (p.Pro495Thr) | |
10 | g.75028650C>G | CA377292079 | DUSP29,KAT6B | c.3826C>G (p.Pro1276Ala) c.3277C>G (p.Pro1093Ala) c.2950C>G (p.Pro984Ala) c.2761C>G (p.Pro921Ala) n.577-2056G>C c.*3622-2056G>C (n.*3622-2056G>C) c.3664C>G (p.Pro1222Ala) c.2788C>G (p.Pro930Ala) c.2137C>G (p.Pro713Ala) c.1741C>G (p.Pro581Ala) c.1483C>G (p.Pro495Ala) | gnomAD v4 |
10 | g.75028650C>T | CA377292082 | DUSP29,KAT6B | c.3826C>T (p.Pro1276Ser) c.3277C>T (p.Pro1093Ser) c.2950C>T (p.Pro984Ser) c.2761C>T (p.Pro921Ser) n.577-2056G>A c.*3622-2056G>A (n.*3622-2056G>A) c.3664C>T (p.Pro1222Ser) c.2788C>T (p.Pro930Ser) c.2137C>T (p.Pro713Ser) c.1741C>T (p.Pro581Ser) c.1483C>T (p.Pro495Ser) | COSMIC |
10 | g.75028651C>A | CA377292086 | DUSP29,KAT6B | c.3827C>A (p.Pro1276Gln) c.3278C>A (p.Pro1093Gln) c.2951C>A (p.Pro984Gln) c.2762C>A (p.Pro921Gln) n.577-2057G>T c.*3622-2057G>T (n.*3622-2057G>T) c.3665C>A (p.Pro1222Gln) c.2789C>A (p.Pro930Gln) c.2138C>A (p.Pro713Gln) c.1742C>A (p.Pro581Gln) c.1484C>A (p.Pro495Gln) | |
10 | g.75028651C= | CA1920306413 | DUSP29,KAT6B | c.3827C= (p.Pro1276=) c.3278C= (p.Pro1093=) c.2951C= (p.Pro984=) c.2762C= (p.Pro921=) n.577-2057G= c.*3622-2057G= (n.*3622-2057G=) c.3665C= (p.Pro1222=) c.2789C= (p.Pro930=) c.2138C= (p.Pro713=) c.1742C= (p.Pro581=) c.1484C= (p.Pro495=) | |
10 | g.75028651C>G | CA377292089 | DUSP29,KAT6B | c.3827C>G (p.Pro1276Arg) c.3278C>G (p.Pro1093Arg) c.2951C>G (p.Pro984Arg) c.2762C>G (p.Pro921Arg) n.577-2057G>C c.*3622-2057G>C (n.*3622-2057G>C) c.3665C>G (p.Pro1222Arg) c.2789C>G (p.Pro930Arg) c.2138C>G (p.Pro713Arg) c.1742C>G (p.Pro581Arg) c.1484C>G (p.Pro495Arg) | |
10 | g.75028651C>T | CA377292092 | DUSP29,KAT6B | c.3827C>T (p.Pro1276Leu) c.3278C>T (p.Pro1093Leu) c.2951C>T (p.Pro984Leu) c.2762C>T (p.Pro921Leu) n.577-2057G>A c.*3622-2057G>A (n.*3622-2057G>A) c.3665C>T (p.Pro1222Leu) c.2789C>T (p.Pro930Leu) c.2138C>T (p.Pro713Leu) c.1742C>T (p.Pro581Leu) c.1484C>T (p.Pro495Leu) | ClinVar dbSNP gnomAD v4 |
10 | g.75028652G>A | CA5564912 | DUSP29,KAT6B | c.3828G>A (p.Pro1276=) c.3279G>A (p.Pro1093=) c.2952G>A (p.Pro984=) c.2763G>A (p.Pro921=) n.577-2058C>T c.*3622-2058C>T (n.*3622-2058C>T) c.3666G>A (p.Pro1222=) c.2790G>A (p.Pro930=) c.2139G>A (p.Pro713=) c.1743G>A (p.Pro581=) c.1485G>A (p.Pro495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.75028652G>C | CA470299552 | DUSP29,KAT6B | c.3828G>C (p.Pro1276=) c.3279G>C (p.Pro1093=) c.2952G>C (p.Pro984=) c.2763G>C (p.Pro921=) n.577-2058C>G c.*3622-2058C>G (n.*3622-2058C>G) c.3666G>C (p.Pro1222=) c.2790G>C (p.Pro930=) c.2139G>C (p.Pro713=) c.1743G>C (p.Pro581=) c.1485G>C (p.Pro495=) | |
10 | g.75028652G= | CA1920306414 | DUSP29,KAT6B | c.3828G= (p.Pro1276=) c.3279G= (p.Pro1093=) c.2952G= (p.Pro984=) c.2763G= (p.Pro921=) n.577-2058C= c.*3622-2058C= (n.*3622-2058C=) c.3666G= (p.Pro1222=) c.2790G= (p.Pro930=) c.2139G= (p.Pro713=) c.1743G= (p.Pro581=) c.1485G= (p.Pro495=) | |
10 | g.75028652G>T | CA470299551 | DUSP29,KAT6B | c.3828G>T (p.Pro1276=) c.3279G>T (p.Pro1093=) c.2952G>T (p.Pro984=) c.2763G>T (p.Pro921=) n.577-2058C>A c.*3622-2058C>A (n.*3622-2058C>A) c.3666G>T (p.Pro1222=) c.2790G>T (p.Pro930=) c.2139G>T (p.Pro713=) c.1743G>T (p.Pro581=) c.1485G>T (p.Pro495=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.75028653C>A | CA377292099 | DUSP29,KAT6B | c.3829C>A (p.Pro1277Thr) c.3280C>A (p.Pro1094Thr) c.2953C>A (p.Pro985Thr) c.2764C>A (p.Pro922Thr) n.577-2059G>T c.*3622-2059G>T (n.*3622-2059G>T) c.3667C>A (p.Pro1223Thr) c.2791C>A (p.Pro931Thr) c.2140C>A (p.Pro714Thr) c.1744C>A (p.Pro582Thr) c.1486C>A (p.Pro496Thr) | |
10 | g.75028653C= | CA1920306415 | DUSP29,KAT6B | c.3829C= (p.Pro1277=) c.3280C= (p.Pro1094=) c.2953C= (p.Pro985=) c.2764C= (p.Pro922=) n.577-2059G= c.*3622-2059G= (n.*3622-2059G=) c.3667C= (p.Pro1223=) c.2791C= (p.Pro931=) c.2140C= (p.Pro714=) c.1744C= (p.Pro582=) c.1486C= (p.Pro496=) | |
10 | g.75028653C>G | CA209709135 | DUSP29,KAT6B | c.3829C>G (p.Pro1277Ala) c.3280C>G (p.Pro1094Ala) c.2953C>G (p.Pro985Ala) c.2764C>G (p.Pro922Ala) n.577-2059G>C c.*3622-2059G>C (n.*3622-2059G>C) c.3667C>G (p.Pro1223Ala) c.2791C>G (p.Pro931Ala) c.2140C>G (p.Pro714Ala) c.1744C>G (p.Pro582Ala) c.1486C>G (p.Pro496Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.75028653C>T | CA377292107 | DUSP29,KAT6B | c.3829C>T (p.Pro1277Ser) c.3280C>T (p.Pro1094Ser) c.2953C>T (p.Pro985Ser) c.2764C>T (p.Pro922Ser) n.577-2059G>A c.*3622-2059G>A (n.*3622-2059G>A) c.3667C>T (p.Pro1223Ser) c.2791C>T (p.Pro931Ser) c.2140C>T (p.Pro714Ser) c.1744C>T (p.Pro582Ser) c.1486C>T (p.Pro496Ser) | |
10 | g.75028654C>A | CA377292117 | DUSP29,KAT6B | c.3830C>A (p.Pro1277Gln) c.3281C>A (p.Pro1094Gln) c.2954C>A (p.Pro985Gln) c.2765C>A (p.Pro922Gln) n.577-2060G>T c.*3622-2060G>T (n.*3622-2060G>T) c.3668C>A (p.Pro1223Gln) c.2792C>A (p.Pro931Gln) c.2141C>A (p.Pro714Gln) c.1745C>A (p.Pro582Gln) c.1487C>A (p.Pro496Gln) | |
10 | g.75028654C>G | CA377292112 | DUSP29,KAT6B | c.3830C>G (p.Pro1277Arg) c.3281C>G (p.Pro1094Arg) c.2954C>G (p.Pro985Arg) c.2765C>G (p.Pro922Arg) n.577-2060G>C c.*3622-2060G>C (n.*3622-2060G>C) c.3668C>G (p.Pro1223Arg) c.2792C>G (p.Pro931Arg) c.2141C>G (p.Pro714Arg) c.1745C>G (p.Pro582Arg) c.1487C>G (p.Pro496Arg) | |
10 | g.75028654C>T | CA377292114 | DUSP29,KAT6B | c.3830C>T (p.Pro1277Leu) c.3281C>T (p.Pro1094Leu) c.2954C>T (p.Pro985Leu) c.2765C>T (p.Pro922Leu) n.577-2060G>A c.*3622-2060G>A (n.*3622-2060G>A) c.3668C>T (p.Pro1223Leu) c.2792C>T (p.Pro931Leu) c.2141C>T (p.Pro714Leu) c.1745C>T (p.Pro582Leu) c.1487C>T (p.Pro496Leu) | |
10 | g.75028655A>C | CA470299555 | DUSP29,KAT6B | c.3831A>C (p.Pro1277=) c.3282A>C (p.Pro1094=) c.2955A>C (p.Pro985=) c.2766A>C (p.Pro922=) n.577-2061T>G c.*3622-2061T>G (n.*3622-2061T>G) c.3669A>C (p.Pro1223=) c.2793A>C (p.Pro931=) c.2142A>C (p.Pro714=) c.1746A>C (p.Pro582=) c.1488A>C (p.Pro496=) | |
10 | g.75028655A>G | CA470299554 | DUSP29,KAT6B | c.3831A>G (p.Pro1277=) c.3282A>G (p.Pro1094=) c.2955A>G (p.Pro985=) c.2766A>G (p.Pro922=) n.577-2061T>C c.*3622-2061T>C (n.*3622-2061T>C) c.3669A>G (p.Pro1223=) c.2793A>G (p.Pro931=) c.2142A>G (p.Pro714=) c.1746A>G (p.Pro582=) c.1488A>G (p.Pro496=) | dbSNP |
10 | g.75028655A>T | CA470299553 | DUSP29,KAT6B | c.3831A>T (p.Pro1277=) c.3282A>T (p.Pro1094=) c.2955A>T (p.Pro985=) c.2766A>T (p.Pro922=) n.577-2061T>A c.*3622-2061T>A (n.*3622-2061T>A) c.3669A>T (p.Pro1223=) c.2793A>T (p.Pro931=) c.2142A>T (p.Pro714=) c.1746A>T (p.Pro582=) c.1488A>T (p.Pro496=) | COSMIC |
10 | g.75028656G>A | CA377292120 | DUSP29,KAT6B | c.3832G>A (p.Glu1278Lys) c.3283G>A (p.Glu1095Lys) c.2956G>A (p.Glu986Lys) c.2767G>A (p.Glu923Lys) n.577-2062C>T c.*3622-2062C>T (n.*3622-2062C>T) c.3670G>A (p.Glu1224Lys) c.2794G>A (p.Glu932Lys) c.2143G>A (p.Glu715Lys) c.1747G>A (p.Glu583Lys) c.1489G>A (p.Glu497Lys) | |
10 | g.75028656G>C | CA377292124 | DUSP29,KAT6B | c.3832G>C (p.Glu1278Gln) c.3283G>C (p.Glu1095Gln) c.2956G>C (p.Glu986Gln) c.2767G>C (p.Glu923Gln) n.577-2062C>G c.*3622-2062C>G (n.*3622-2062C>G) c.3670G>C (p.Glu1224Gln) c.2794G>C (p.Glu932Gln) c.2143G>C (p.Glu715Gln) c.1747G>C (p.Glu583Gln) c.1489G>C (p.Glu497Gln) | |
10 | g.75028656G>T | CA377292126 | DUSP29,KAT6B | c.3832G>T (p.Glu1278Ter) c.3283G>T (p.Glu1095Ter) c.2956G>T (p.Glu986Ter) c.2767G>T (p.Glu923Ter) n.577-2062C>A c.*3622-2062C>A (n.*3622-2062C>A) c.3670G>T (p.Glu1224Ter) c.2794G>T (p.Glu932Ter) c.2143G>T (p.Glu715Ter) c.1747G>T (p.Glu583Ter) c.1489G>T (p.Glu497Ter) | |
10 | g.75028657A>C | CA377292130 | DUSP29,KAT6B | c.3833A>C (p.Glu1278Ala) c.3284A>C (p.Glu1095Ala) c.2957A>C (p.Glu986Ala) c.2768A>C (p.Glu923Ala) n.577-2063T>G c.*3622-2063T>G (n.*3622-2063T>G) c.3671A>C (p.Glu1224Ala) c.2795A>C (p.Glu932Ala) c.2144A>C (p.Glu715Ala) c.1748A>C (p.Glu583Ala) c.1490A>C (p.Glu497Ala) | |
10 | g.75028657A>G | CA377292132 | DUSP29,KAT6B | c.3833A>G (p.Glu1278Gly) c.3284A>G (p.Glu1095Gly) c.2957A>G (p.Glu986Gly) c.2768A>G (p.Glu923Gly) n.577-2063T>C c.*3622-2063T>C (n.*3622-2063T>C) c.3671A>G (p.Glu1224Gly) c.2795A>G (p.Glu932Gly) c.2144A>G (p.Glu715Gly) c.1748A>G (p.Glu583Gly) c.1490A>G (p.Glu497Gly) | |
10 | g.75028657A>T | CA377292136 | DUSP29,KAT6B | c.3833A>T (p.Glu1278Val) c.3284A>T (p.Glu1095Val) c.2957A>T (p.Glu986Val) c.2768A>T (p.Glu923Val) n.577-2063T>A c.*3622-2063T>A (n.*3622-2063T>A) c.3671A>T (p.Glu1224Val) c.2795A>T (p.Glu932Val) c.2144A>T (p.Glu715Val) c.1748A>T (p.Glu583Val) c.1490A>T (p.Glu497Val) | |
10 | g.75028658A= | CA1920306416 | DUSP29,KAT6B | c.3834A= (p.Glu1278=) c.3285A= (p.Glu1095=) c.2958A= (p.Glu986=) c.2769A= (p.Glu923=) n.577-2064T= c.*3622-2064T= (n.*3622-2064T=) c.3672A= (p.Glu1224=) c.2796A= (p.Glu932=) c.2145A= (p.Glu715=) c.1749A= (p.Glu583=) c.1491A= (p.Glu497=) | |
10 | g.75028658A>C | CA377292140 | DUSP29,KAT6B | c.3834A>C (p.Glu1278Asp) c.3285A>C (p.Glu1095Asp) c.2958A>C (p.Glu986Asp) c.2769A>C (p.Glu923Asp) n.577-2064T>G c.*3622-2064T>G (n.*3622-2064T>G) c.3672A>C (p.Glu1224Asp) c.2796A>C (p.Glu932Asp) c.2145A>C (p.Glu715Asp) c.1749A>C (p.Glu583Asp) c.1491A>C (p.Glu497Asp) | gnomAD v4 |
10 | g.75028658A>G | CA209709143 | DUSP29,KAT6B | c.3834A>G (p.Glu1278=) c.3285A>G (p.Glu1095=) c.2958A>G (p.Glu986=) c.2769A>G (p.Glu923=) n.577-2064T>C c.*3622-2064T>C (n.*3622-2064T>C) c.3672A>G (p.Glu1224=) c.2796A>G (p.Glu932=) c.2145A>G (p.Glu715=) c.1749A>G (p.Glu583=) c.1491A>G (p.Glu497=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.75028658A>T | CA377292156 | DUSP29,KAT6B | c.3834A>T (p.Glu1278Asp) c.3285A>T (p.Glu1095Asp) c.2958A>T (p.Glu986Asp) c.2769A>T (p.Glu923Asp) n.577-2064T>A c.*3622-2064T>A (n.*3622-2064T>A) c.3672A>T (p.Glu1224Asp) c.2796A>T (p.Glu932Asp) c.2145A>T (p.Glu715Asp) c.1749A>T (p.Glu583Asp) c.1491A>T (p.Glu497Asp) | |
10 | g.75028659A>C | CA377292160 | DUSP29,KAT6B | c.3835A>C (p.Thr1279Pro) c.3286A>C (p.Thr1096Pro) c.2959A>C (p.Thr987Pro) c.2770A>C (p.Thr924Pro) n.577-2065T>G c.*3622-2065T>G (n.*3622-2065T>G) c.3673A>C (p.Thr1225Pro) c.2797A>C (p.Thr933Pro) c.2146A>C (p.Thr716Pro) c.1750A>C (p.Thr584Pro) c.1492A>C (p.Thr498Pro) | |
10 | g.75028659A>G | CA377292163 | DUSP29,KAT6B | c.3835A>G (p.Thr1279Ala) c.3286A>G (p.Thr1096Ala) c.2959A>G (p.Thr987Ala) c.2770A>G (p.Thr924Ala) n.577-2065T>C c.*3622-2065T>C (n.*3622-2065T>C) c.3673A>G (p.Thr1225Ala) c.2797A>G (p.Thr933Ala) c.2146A>G (p.Thr716Ala) c.1750A>G (p.Thr584Ala) c.1492A>G (p.Thr498Ala) | |
10 | g.75028659A>T | CA377292166 | DUSP29,KAT6B | c.3835A>T (p.Thr1279Ser) c.3286A>T (p.Thr1096Ser) c.2959A>T (p.Thr987Ser) c.2770A>T (p.Thr924Ser) n.577-2065T>A c.*3622-2065T>A (n.*3622-2065T>A) c.3673A>T (p.Thr1225Ser) c.2797A>T (p.Thr933Ser) c.2146A>T (p.Thr716Ser) c.1750A>T (p.Thr584Ser) c.1492A>T (p.Thr498Ser) | |
10 | g.75028660C>A | CA377292178 | DUSP29,KAT6B | c.3836C>A (p.Thr1279Lys) c.3287C>A (p.Thr1096Lys) c.2960C>A (p.Thr987Lys) c.2771C>A (p.Thr924Lys) n.577-2066G>T c.*3622-2066G>T (n.*3622-2066G>T) c.3674C>A (p.Thr1225Lys) c.2798C>A (p.Thr933Lys) c.2147C>A (p.Thr716Lys) c.1751C>A (p.Thr584Lys) c.1493C>A (p.Thr498Lys) | |
10 | g.75028660C>G | CA377292172 | DUSP29,KAT6B | c.3836C>G (p.Thr1279Arg) c.3287C>G (p.Thr1096Arg) c.2960C>G (p.Thr987Arg) c.2771C>G (p.Thr924Arg) n.577-2066G>C c.*3622-2066G>C (n.*3622-2066G>C) c.3674C>G (p.Thr1225Arg) c.2798C>G (p.Thr933Arg) c.2147C>G (p.Thr716Arg) c.1751C>G (p.Thr584Arg) c.1493C>G (p.Thr498Arg) | |
10 | g.75028660C>T | CA377292169 | DUSP29,KAT6B | c.3836C>T (p.Thr1279Ile) c.3287C>T (p.Thr1096Ile) c.2960C>T (p.Thr987Ile) c.2771C>T (p.Thr924Ile) n.577-2066G>A c.*3622-2066G>A (n.*3622-2066G>A) c.3674C>T (p.Thr1225Ile) c.2798C>T (p.Thr933Ile) c.2147C>T (p.Thr716Ile) c.1751C>T (p.Thr584Ile) c.1493C>T (p.Thr498Ile) | |
10 | g.75028661A= | CA1920306417 | DUSP29,KAT6B | c.3837A= (p.Thr1279=) c.3288A= (p.Thr1096=) c.2961A= (p.Thr987=) c.2772A= (p.Thr924=) n.577-2067T= c.*3622-2067T= (n.*3622-2067T=) c.3675A= (p.Thr1225=) c.2799A= (p.Thr933=) c.2148A= (p.Thr716=) c.1752A= (p.Thr584=) c.1494A= (p.Thr498=) | |
10 | g.75028661A>C | CA5564913 | DUSP29,KAT6B | c.3837A>C (p.Thr1279=) c.3288A>C (p.Thr1096=) c.2961A>C (p.Thr987=) c.2772A>C (p.Thr924=) n.577-2067T>G c.*3622-2067T>G (n.*3622-2067T>G) c.3675A>C (p.Thr1225=) c.2799A>C (p.Thr933=) c.2148A>C (p.Thr716=) c.1752A>C (p.Thr584=) c.1494A>C (p.Thr498=) | dbSNP ExAC gnomAD v2 |
10 | g.75028661A>G | CA470299556 | DUSP29,KAT6B | c.3837A>G (p.Thr1279=) c.3288A>G (p.Thr1096=) c.2961A>G (p.Thr987=) c.2772A>G (p.Thr924=) n.577-2067T>C c.*3622-2067T>C (n.*3622-2067T>C) c.3675A>G (p.Thr1225=) c.2799A>G (p.Thr933=) c.2148A>G (p.Thr716=) c.1752A>G (p.Thr584=) c.1494A>G (p.Thr498=) | ClinVar dbSNP |
10 | g.75028661A>T | CA470299557 | DUSP29,KAT6B | c.3837A>T (p.Thr1279=) c.3288A>T (p.Thr1096=) c.2961A>T (p.Thr987=) c.2772A>T (p.Thr924=) n.577-2067T>A c.*3622-2067T>A (n.*3622-2067T>A) c.3675A>T (p.Thr1225=) c.2799A>T (p.Thr933=) c.2148A>T (p.Thr716=) c.1752A>T (p.Thr584=) c.1494A>T (p.Thr498=) | |
10 | g.75028662C>A | CA377292183 | DUSP29,KAT6B | c.3838C>A (p.Pro1280Thr) c.3289C>A (p.Pro1097Thr) c.2962C>A (p.Pro988Thr) c.2773C>A (p.Pro925Thr) n.577-2068G>T c.*3622-2068G>T (n.*3622-2068G>T) c.3676C>A (p.Pro1226Thr) c.2800C>A (p.Pro934Thr) c.2149C>A (p.Pro717Thr) c.1753C>A (p.Pro585Thr) c.1495C>A (p.Pro499Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.75028662C= | CA1920306418 | DUSP29,KAT6B | c.3838C= (p.Pro1280=) c.3289C= (p.Pro1097=) c.2962C= (p.Pro988=) c.2773C= (p.Pro925=) n.577-2068G= c.*3622-2068G= (n.*3622-2068G=) c.3676C= (p.Pro1226=) c.2800C= (p.Pro934=) c.2149C= (p.Pro717=) c.1753C= (p.Pro585=) c.1495C= (p.Pro499=) | |
10 | g.75028662C>G | CA377292189 | DUSP29,KAT6B | c.3838C>G (p.Pro1280Ala) c.3289C>G (p.Pro1097Ala) c.2962C>G (p.Pro988Ala) c.2773C>G (p.Pro925Ala) n.577-2068G>C c.*3622-2068G>C (n.*3622-2068G>C) c.3676C>G (p.Pro1226Ala) c.2800C>G (p.Pro934Ala) c.2149C>G (p.Pro717Ala) c.1753C>G (p.Pro585Ala) c.1495C>G (p.Pro499Ala) | |
10 | g.75028662C>T | CA377292185 | DUSP29,KAT6B | c.3838C>T (p.Pro1280Ser) c.3289C>T (p.Pro1097Ser) c.2962C>T (p.Pro988Ser) c.2773C>T (p.Pro925Ser) n.577-2068G>A c.*3622-2068G>A (n.*3622-2068G>A) c.3676C>T (p.Pro1226Ser) c.2800C>T (p.Pro934Ser) c.2149C>T (p.Pro717Ser) c.1753C>T (p.Pro585Ser) c.1495C>T (p.Pro499Ser) | |
10 | g.75028663C>A | CA377292193 | DUSP29,KAT6B | c.3839C>A (p.Pro1280His) c.3290C>A (p.Pro1097His) c.2963C>A (p.Pro988His) c.2774C>A (p.Pro925His) n.577-2069G>T c.*3622-2069G>T (n.*3622-2069G>T) c.3677C>A (p.Pro1226His) c.2801C>A (p.Pro934His) c.2150C>A (p.Pro717His) c.1754C>A (p.Pro585His) c.1496C>A (p.Pro499His) | gnomAD v4 |
10 | g.75028663C= | CA1920306419 | DUSP29,KAT6B | c.3839C= (p.Pro1280=) c.3290C= (p.Pro1097=) c.2963C= (p.Pro988=) c.2774C= (p.Pro925=) n.577-2069G= c.*3622-2069G= (n.*3622-2069G=) c.3677C= (p.Pro1226=) c.2801C= (p.Pro934=) c.2150C= (p.Pro717=) c.1754C= (p.Pro585=) c.1496C= (p.Pro499=) | |
10 | g.75028663C>G | CA5564914 | DUSP29,KAT6B | c.3839C>G (p.Pro1280Arg) c.3290C>G (p.Pro1097Arg) c.2963C>G (p.Pro988Arg) c.2774C>G (p.Pro925Arg) n.577-2069G>C c.*3622-2069G>C (n.*3622-2069G>C) c.3677C>G (p.Pro1226Arg) c.2801C>G (p.Pro934Arg) c.2150C>G (p.Pro717Arg) c.1754C>G (p.Pro585Arg) c.1496C>G (p.Pro499Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.75028663C>T | CA377292198 | DUSP29,KAT6B | c.3839C>T (p.Pro1280Leu) c.3290C>T (p.Pro1097Leu) c.2963C>T (p.Pro988Leu) c.2774C>T (p.Pro925Leu) n.577-2069G>A c.*3622-2069G>A (n.*3622-2069G>A) c.3677C>T (p.Pro1226Leu) c.2801C>T (p.Pro934Leu) c.2150C>T (p.Pro717Leu) c.1754C>T (p.Pro585Leu) c.1496C>T (p.Pro499Leu) | gnomAD v4 |
10 | g.75028664C>A | CA470299558 | DUSP29,KAT6B | c.3840C>A (p.Pro1280=) c.3291C>A (p.Pro1097=) c.2964C>A (p.Pro988=) c.2775C>A (p.Pro925=) n.577-2070G>T c.*3622-2070G>T (n.*3622-2070G>T) c.3678C>A (p.Pro1226=) c.2802C>A (p.Pro934=) c.2151C>A (p.Pro717=) c.1755C>A (p.Pro585=) c.1497C>A (p.Pro499=) | |
10 | g.75028664C= | CA1920306420 | DUSP29,KAT6B | c.3840C= (p.Pro1280=) c.3291C= (p.Pro1097=) c.2964C= (p.Pro988=) c.2775C= (p.Pro925=) n.577-2070G= c.*3622-2070G= (n.*3622-2070G=) c.3678C= (p.Pro1226=) c.2802C= (p.Pro934=) c.2151C= (p.Pro717=) c.1755C= (p.Pro585=) c.1497C= (p.Pro499=) | |
10 | g.75028664C>G | CA470299559 | DUSP29,KAT6B | c.3840C>G (p.Pro1280=) c.3291C>G (p.Pro1097=) c.2964C>G (p.Pro988=) c.2775C>G (p.Pro925=) n.577-2070G>C c.*3622-2070G>C (n.*3622-2070G>C) c.3678C>G (p.Pro1226=) c.2802C>G (p.Pro934=) c.2151C>G (p.Pro717=) c.1755C>G (p.Pro585=) c.1497C>G (p.Pro499=) | |
10 | g.75028664C>T | CA209709172 | DUSP29,KAT6B | c.3840C>T (p.Pro1280=) c.3291C>T (p.Pro1097=) c.2964C>T (p.Pro988=) c.2775C>T (p.Pro925=) n.577-2070G>A c.*3622-2070G>A (n.*3622-2070G>A) c.3678C>T (p.Pro1226=) c.2802C>T (p.Pro934=) c.2151C>T (p.Pro717=) c.1755C>T (p.Pro585=) c.1497C>T (p.Pro499=) | dbSNP |
10 | g.75028665_75028666insACACA | CA2788571369 | DUSP29,KAT6B | c.3841_3842insACACA (p.Met1281AsnfsTer9) c.3292_3293insACACA (p.Met1098AsnfsTer9) c.2965_2966insACACA (p.Met989AsnfsTer9) c.2776_2777insACACA (p.Met926AsnfsTer9) n.577-2070_577-2069insTGTTG c.*3622-2070_*3622-2069insTGTTG (n.*3622-2070_*3622-2069insTGTTG) c.3679_3680insACACA (p.Met1227AsnfsTer9) c.2803_2804insACACA (p.Met935AsnfsTer9) c.2152_2153insACACA (p.Met718AsnfsTer9) c.1756_1757insACACA (p.Met586AsnfsTer9) c.1498_1499insACACA (p.Met500AsnfsTer9) | |
10 | g.75028665A= | CA1920306421 | DUSP29,KAT6B | c.3841A= (p.Met1281=) c.3292A= (p.Met1098=) c.2965A= (p.Met989=) c.2776A= (p.Met926=) n.577-2071T= c.*3622-2071T= (n.*3622-2071T=) c.3679A= (p.Met1227=) c.2803A= (p.Met935=) c.2152A= (p.Met718=) c.1756A= (p.Met586=) c.1498A= (p.Met500=) | |
10 | g.75028665A>C | CA377292212 | DUSP29,KAT6B | c.3841A>C (p.Met1281Leu) c.3292A>C (p.Met1098Leu) c.2965A>C (p.Met989Leu) c.2776A>C (p.Met926Leu) n.577-2071T>G c.*3622-2071T>G (n.*3622-2071T>G) c.3679A>C (p.Met1227Leu) c.2803A>C (p.Met935Leu) c.2152A>C (p.Met718Leu) c.1756A>C (p.Met586Leu) c.1498A>C (p.Met500Leu) | gnomAD v4 |
10 | g.75028665A>G | CA209709175 | DUSP29,KAT6B | c.3841A>G (p.Met1281Val) c.3292A>G (p.Met1098Val) c.2965A>G (p.Met989Val) c.2776A>G (p.Met926Val) n.577-2071T>C c.*3622-2071T>C (n.*3622-2071T>C) c.3679A>G (p.Met1227Val) c.2803A>G (p.Met935Val) c.2152A>G (p.Met718Val) c.1756A>G (p.Met586Val) c.1498A>G (p.Met500Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.75028665A>T | CA377292217 | DUSP29,KAT6B | c.3841A>T (p.Met1281Leu) c.3292A>T (p.Met1098Leu) c.2965A>T (p.Met989Leu) c.2776A>T (p.Met926Leu) n.577-2071T>A c.*3622-2071T>A (n.*3622-2071T>A) c.3679A>T (p.Met1227Leu) c.2803A>T (p.Met935Leu) c.2152A>T (p.Met718Leu) c.1756A>T (p.Met586Leu) c.1498A>T (p.Met500Leu) | |
10 | g.75028666T>A | CA377292221 | DUSP29,KAT6B | c.3842T>A (p.Met1281Lys) c.3293T>A (p.Met1098Lys) c.2966T>A (p.Met989Lys) c.2777T>A (p.Met926Lys) n.577-2072A>T c.*3622-2072A>T (n.*3622-2072A>T) c.3680T>A (p.Met1227Lys) c.2804T>A (p.Met935Lys) c.2153T>A (p.Met718Lys) c.1757T>A (p.Met586Lys) c.1499T>A (p.Met500Lys) | |
10 | g.75028666T>C | CA377292225 | DUSP29,KAT6B | c.3842T>C (p.Met1281Thr) c.3293T>C (p.Met1098Thr) c.2966T>C (p.Met989Thr) c.2777T>C (p.Met926Thr) n.577-2072A>G c.*3622-2072A>G (n.*3622-2072A>G) c.3680T>C (p.Met1227Thr) c.2804T>C (p.Met935Thr) c.2153T>C (p.Met718Thr) c.1757T>C (p.Met586Thr) c.1499T>C (p.Met500Thr) | gnomAD v4 |
10 | g.75028666T>G | CA5564915 | DUSP29,KAT6B | c.3842T>G (p.Met1281Arg) c.3293T>G (p.Met1098Arg) c.2966T>G (p.Met989Arg) c.2777T>G (p.Met926Arg) n.577-2072A>C c.*3622-2072A>C (n.*3622-2072A>C) c.3680T>G (p.Met1227Arg) c.2804T>G (p.Met935Arg) c.2153T>G (p.Met718Arg) c.1757T>G (p.Met586Arg) c.1499T>G (p.Met500Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.75028666T= | CA1920306422 | DUSP29,KAT6B | c.3842T= (p.Met1281=) c.3293T= (p.Met1098=) c.2966T= (p.Met989=) c.2777T= (p.Met926=) n.577-2072A= c.*3622-2072A= (n.*3622-2072A=) c.3680T= (p.Met1227=) c.2804T= (p.Met935=) c.2153T= (p.Met718=) c.1757T= (p.Met586=) c.1499T= (p.Met500=) | |
10 | g.75028667G>A | CA377292236 | DUSP29,KAT6B | c.3843G>A (p.Met1281Ile) c.3294G>A (p.Met1098Ile) c.2967G>A (p.Met989Ile) c.2778G>A (p.Met926Ile) n.577-2073C>T c.*3622-2073C>T (n.*3622-2073C>T) c.3681G>A (p.Met1227Ile) c.2805G>A (p.Met935Ile) c.2154G>A (p.Met718Ile) c.1758G>A (p.Met586Ile) c.1500G>A (p.Met500Ile) | |
10 | g.75028667G>C | CA377292232 | DUSP29,KAT6B | c.3843G>C (p.Met1281Ile) c.3294G>C (p.Met1098Ile) c.2967G>C (p.Met989Ile) c.2778G>C (p.Met926Ile) n.577-2073C>G c.*3622-2073C>G (n.*3622-2073C>G) c.3681G>C (p.Met1227Ile) c.2805G>C (p.Met935Ile) c.2154G>C (p.Met718Ile) c.1758G>C (p.Met586Ile) c.1500G>C (p.Met500Ile) | |
10 | g.75028667G>T | CA377292231 | DUSP29,KAT6B | c.3843G>T (p.Met1281Ile) c.3294G>T (p.Met1098Ile) c.2967G>T (p.Met989Ile) c.2778G>T (p.Met926Ile) n.577-2073C>A c.*3622-2073C>A (n.*3622-2073C>A) c.3681G>T (p.Met1227Ile) c.2805G>T (p.Met935Ile) c.2154G>T (p.Met718Ile) c.1758G>T (p.Met586Ile) c.1500G>T (p.Met500Ile) | |
10 | g.75028668G>A | CA377292239 | DUSP29,KAT6B | c.3844G>A (p.Glu1282Lys) c.3295G>A (p.Glu1099Lys) c.2968G>A (p.Glu990Lys) c.2779G>A (p.Glu927Lys) n.577-2074C>T c.*3622-2074C>T (n.*3622-2074C>T) c.3682G>A (p.Glu1228Lys) c.2806G>A (p.Glu936Lys) c.2155G>A (p.Glu719Lys) c.1759G>A (p.Glu587Lys) c.1501G>A (p.Glu501Lys) | |
10 | g.75028668G>C | CA377292242 | DUSP29,KAT6B | c.3844G>C (p.Glu1282Gln) c.3295G>C (p.Glu1099Gln) c.2968G>C (p.Glu990Gln) c.2779G>C (p.Glu927Gln) n.577-2074C>G c.*3622-2074C>G (n.*3622-2074C>G) c.3682G>C (p.Glu1228Gln) c.2806G>C (p.Glu936Gln) c.2155G>C (p.Glu719Gln) c.1759G>C (p.Glu587Gln) c.1501G>C (p.Glu501Gln) | |
10 | g.75028668G>T | CA377292245 | DUSP29,KAT6B | c.3844G>T (p.Glu1282Ter) c.3295G>T (p.Glu1099Ter) c.2968G>T (p.Glu990Ter) c.2779G>T (p.Glu927Ter) n.577-2074C>A c.*3622-2074C>A (n.*3622-2074C>A) c.3682G>T (p.Glu1228Ter) c.2806G>T (p.Glu936Ter) c.2155G>T (p.Glu719Ter) c.1759G>T (p.Glu587Ter) c.1501G>T (p.Glu501Ter) | COSMIC |
10 | g.75028669A>C | CA377292249 | DUSP29,KAT6B | c.3845A>C (p.Glu1282Ala) c.3296A>C (p.Glu1099Ala) c.2969A>C (p.Glu990Ala) c.2780A>C (p.Glu927Ala) n.577-2075T>G c.*3622-2075T>G (n.*3622-2075T>G) c.3683A>C (p.Glu1228Ala) c.2807A>C (p.Glu936Ala) c.2156A>C (p.Glu719Ala) c.1760A>C (p.Glu587Ala) c.1502A>C (p.Glu501Ala) | |
10 | g.75028669A>G | CA377292250 | DUSP29,KAT6B | c.3845A>G (p.Glu1282Gly) c.3296A>G (p.Glu1099Gly) c.2969A>G (p.Glu990Gly) c.2780A>G (p.Glu927Gly) n.577-2075T>C c.*3622-2075T>C (n.*3622-2075T>C) c.3683A>G (p.Glu1228Gly) c.2807A>G (p.Glu936Gly) c.2156A>G (p.Glu719Gly) c.1760A>G (p.Glu587Gly) c.1502A>G (p.Glu501Gly) | |
10 | g.75028669A>T | CA377292254 | DUSP29,KAT6B | c.3845A>T (p.Glu1282Val) c.3296A>T (p.Glu1099Val) c.2969A>T (p.Glu990Val) c.2780A>T (p.Glu927Val) n.577-2075T>A c.*3622-2075T>A (n.*3622-2075T>A) c.3683A>T (p.Glu1228Val) c.2807A>T (p.Glu936Val) c.2156A>T (p.Glu719Val) c.1760A>T (p.Glu587Val) c.1502A>T (p.Glu501Val) | |
10 | g.75028670G>A | CA209709182 | DUSP29,KAT6B | c.3846G>A (p.Glu1282=) c.3297G>A (p.Glu1099=) c.2970G>A (p.Glu990=) c.2781G>A (p.Glu927=) n.577-2076C>T c.*3622-2076C>T (n.*3622-2076C>T) c.3684G>A (p.Glu1228=) c.2808G>A (p.Glu936=) c.2157G>A (p.Glu719=) c.1761G>A (p.Glu587=) c.1503G>A (p.Glu501=) | dbSNP gnomAD v4 |
10 | g.75028670G>C | CA377292259 | DUSP29,KAT6B | c.3846G>C (p.Glu1282Asp) c.3297G>C (p.Glu1099Asp) c.2970G>C (p.Glu990Asp) c.2781G>C (p.Glu927Asp) n.577-2076C>G c.*3622-2076C>G (n.*3622-2076C>G) c.3684G>C (p.Glu1228Asp) c.2808G>C (p.Glu936Asp) c.2157G>C (p.Glu719Asp) c.1761G>C (p.Glu587Asp) c.1503G>C (p.Glu501Asp) | |
10 | g.75028670G= | CA1920306423 | DUSP29,KAT6B | c.3846G= (p.Glu1282=) c.3297G= (p.Glu1099=) c.2970G= (p.Glu990=) c.2781G= (p.Glu927=) n.577-2076C= c.*3622-2076C= (n.*3622-2076C=) c.3684G= (p.Glu1228=) c.2808G= (p.Glu936=) c.2157G= (p.Glu719=) c.1761G= (p.Glu587=) c.1503G= (p.Glu501=) | |
10 | g.75028670G>T | CA377292263 | DUSP29,KAT6B | c.3846G>T (p.Glu1282Asp) c.3297G>T (p.Glu1099Asp) c.2970G>T (p.Glu990Asp) c.2781G>T (p.Glu927Asp) n.577-2076C>A c.*3622-2076C>A (n.*3622-2076C>A) c.3684G>T (p.Glu1228Asp) c.2808G>T (p.Glu936Asp) c.2157G>T (p.Glu719Asp) c.1761G>T (p.Glu587Asp) c.1503G>T (p.Glu501Asp) | |
10 | g.75028671C>A | CA377292266 | DUSP29,KAT6B | c.3847C>A (p.Pro1283Thr) c.3298C>A (p.Pro1100Thr) c.2971C>A (p.Pro991Thr) c.2782C>A (p.Pro928Thr) n.577-2077G>T c.*3622-2077G>T (n.*3622-2077G>T) c.3685C>A (p.Pro1229Thr) c.2809C>A (p.Pro937Thr) c.2158C>A (p.Pro720Thr) c.1762C>A (p.Pro588Thr) c.1504C>A (p.Pro502Thr) | dbSNP gnomAD v4 |
10 | g.75028671C= | CA1920306424 | DUSP29,KAT6B | c.3847C= (p.Pro1283=) c.3298C= (p.Pro1100=) c.2971C= (p.Pro991=) c.2782C= (p.Pro928=) n.577-2077G= c.*3622-2077G= (n.*3622-2077G=) c.3685C= (p.Pro1229=) c.2809C= (p.Pro937=) c.2158C= (p.Pro720=) c.1762C= (p.Pro588=) c.1504C= (p.Pro502=) | |
10 | g.75028671C>G | CA5564916 | DUSP29,KAT6B | c.3847C>G (p.Pro1283Ala) c.3298C>G (p.Pro1100Ala) c.2971C>G (p.Pro991Ala) c.2782C>G (p.Pro928Ala) n.577-2077G>C c.*3622-2077G>C (n.*3622-2077G>C) c.3685C>G (p.Pro1229Ala) c.2809C>G (p.Pro937Ala) c.2158C>G (p.Pro720Ala) c.1762C>G (p.Pro588Ala) c.1504C>G (p.Pro502Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.75028671C>T | CA377292270 | DUSP29,KAT6B | c.3847C>T (p.Pro1283Ser) c.3298C>T (p.Pro1100Ser) c.2971C>T (p.Pro991Ser) c.2782C>T (p.Pro928Ser) n.577-2077G>A c.*3622-2077G>A (n.*3622-2077G>A) c.3685C>T (p.Pro1229Ser) c.2809C>T (p.Pro937Ser) c.2158C>T (p.Pro720Ser) c.1762C>T (p.Pro588Ser) c.1504C>T (p.Pro502Ser) | |
10 | g.75028672C>A | CA377292276 | DUSP29,KAT6B | c.3848C>A (p.Pro1283His) c.3299C>A (p.Pro1100His) c.2972C>A (p.Pro991His) c.2783C>A (p.Pro928His) n.577-2078G>T c.*3622-2078G>T (n.*3622-2078G>T) c.3686C>A (p.Pro1229His) c.2810C>A (p.Pro937His) c.2159C>A (p.Pro720His) c.1763C>A (p.Pro588His) c.1505C>A (p.Pro502His) | |
10 | g.75028672C>G | CA377292279 | DUSP29,KAT6B | c.3848C>G (p.Pro1283Arg) c.3299C>G (p.Pro1100Arg) c.2972C>G (p.Pro991Arg) c.2783C>G (p.Pro928Arg) n.577-2078G>C c.*3622-2078G>C (n.*3622-2078G>C) c.3686C>G (p.Pro1229Arg) c.2810C>G (p.Pro937Arg) c.2159C>G (p.Pro720Arg) c.1763C>G (p.Pro588Arg) c.1505C>G (p.Pro502Arg) | |
10 | g.75028672C>T | CA377292273 | DUSP29,KAT6B | c.3848C>T (p.Pro1283Leu) c.3299C>T (p.Pro1100Leu) c.2972C>T (p.Pro991Leu) c.2783C>T (p.Pro928Leu) n.577-2078G>A c.*3622-2078G>A (n.*3622-2078G>A) c.3686C>T (p.Pro1229Leu) c.2810C>T (p.Pro937Leu) c.2159C>T (p.Pro720Leu) c.1763C>T (p.Pro588Leu) c.1505C>T (p.Pro502Leu) | |
10 | g.75028673T>A | CA470299562 | DUSP29,KAT6B | c.3849T>A (p.Pro1283=) c.3300T>A (p.Pro1100=) c.2973T>A (p.Pro991=) c.2784T>A (p.Pro928=) n.577-2079A>T c.*3622-2079A>T (n.*3622-2079A>T) c.3687T>A (p.Pro1229=) c.2811T>A (p.Pro937=) c.2160T>A (p.Pro720=) c.1764T>A (p.Pro588=) c.1506T>A (p.Pro502=) | |
10 | g.75028673T>C | CA470299561 | DUSP29,KAT6B | c.3849T>C (p.Pro1283=) c.3300T>C (p.Pro1100=) c.2973T>C (p.Pro991=) c.2784T>C (p.Pro928=) n.577-2079A>G c.*3622-2079A>G (n.*3622-2079A>G) c.3687T>C (p.Pro1229=) c.2811T>C (p.Pro937=) c.2160T>C (p.Pro720=) c.1764T>C (p.Pro588=) c.1506T>C (p.Pro502=) | |
10 | g.75028673T>G | CA470299560 | DUSP29,KAT6B | c.3849T>G (p.Pro1283=) c.3300T>G (p.Pro1100=) c.2973T>G (p.Pro991=) c.2784T>G (p.Pro928=) n.577-2079A>C c.*3622-2079A>C (n.*3622-2079A>C) c.3687T>G (p.Pro1229=) c.2811T>G (p.Pro937=) c.2160T>G (p.Pro720=) c.1764T>G (p.Pro588=) c.1506T>G (p.Pro502=) | |
10 | g.75028673_75028681delinsTGACGAGCA | CA1920306425 | DUSP29,KAT6B | c.3849_3857delinsTGACGAGCA (p.Pro1283=) c.3300_3308delinsTGACGAGCA (p.Pro1100=) c.2973_2981delinsTGACGAGCA (p.Pro991=) c.2784_2792delinsTGACGAGCA (p.Pro928=) n.577-2087_577-2079delinsTGCTCGTCA c.*3622-2087_*3622-2079delinsTGCTCGTCA (n.*3622-2087_*3622-2079delinsTGCTCGTCA) c.3687_3695delinsTGACGAGCA (p.Pro1229=) c.2811_2819delinsTGACGAGCA (p.Pro937=) c.2160_2168delinsTGACGAGCA (p.Pro720=) c.1764_1772delinsTGACGAGCA (p.Pro588=) c.1506_1514delinsTGACGAGCA (p.Pro502=) | |
10 | g.75028674G>A | CA377292282 | DUSP29,KAT6B | c.3850G>A (p.Asp1284Asn) c.3301G>A (p.Asp1101Asn) c.2974G>A (p.Asp992Asn) c.2785G>A (p.Asp929Asn) n.577-2080C>T c.*3622-2080C>T (n.*3622-2080C>T) c.3688G>A (p.Asp1230Asn) c.2812G>A (p.Asp938Asn) c.2161G>A (p.Asp721Asn) c.1765G>A (p.Asp589Asn) c.1507G>A (p.Asp503Asn) | |
10 | g.75028674G>C | CA377292286 | DUSP29,KAT6B | c.3850G>C (p.Asp1284His) c.3301G>C (p.Asp1101His) c.2974G>C (p.Asp992His) c.2785G>C (p.Asp929His) n.577-2080C>G c.*3622-2080C>G (n.*3622-2080C>G) c.3688G>C (p.Asp1230His) c.2812G>C (p.Asp938His) c.2161G>C (p.Asp721His) c.1765G>C (p.Asp589His) c.1507G>C (p.Asp503His) | |
10 | g.75028674G>T | CA377292288 | DUSP29,KAT6B | c.3850G>T (p.Asp1284Tyr) c.3301G>T (p.Asp1101Tyr) c.2974G>T (p.Asp992Tyr) c.2785G>T (p.Asp929Tyr) n.577-2080C>A c.*3622-2080C>A (n.*3622-2080C>A) c.3688G>T (p.Asp1230Tyr) c.2812G>T (p.Asp938Tyr) c.2161G>T (p.Asp721Tyr) c.1765G>T (p.Asp589Tyr) c.1507G>T (p.Asp503Tyr) | gnomAD v4 |
10 | g.75028675_75028682del | CA658797448 | DUSP29,KAT6B | c.3851_3858del (p.Asp1284GlyfsTer22) c.3302_3309del (p.Asp1101GlyfsTer22) c.2975_2982del (p.Asp992GlyfsTer22) c.2786_2793del (p.Asp929GlyfsTer22) n.577-2087_577-2080del c.*3622-2087_*3622-2080del (n.*3622-2087_*3622-2080del) c.3689_3696del (p.Asp1230GlyfsTer22) c.2813_2820del (p.Asp938GlyfsTer22) c.2162_2169del (p.Asp721GlyfsTer22) c.1766_1773del (p.Asp589GlyfsTer22) c.1508_1515del (p.Asp503GlyfsTer22) | ClinVar dbSNP |
10 | g.75028675A>C | CA377292292 | DUSP29,KAT6B | c.3851A>C (p.Asp1284Ala) c.3302A>C (p.Asp1101Ala) c.2975A>C (p.Asp992Ala) c.2786A>C (p.Asp929Ala) n.577-2081T>G c.*3622-2081T>G (n.*3622-2081T>G) c.3689A>C (p.Asp1230Ala) c.2813A>C (p.Asp938Ala) c.2162A>C (p.Asp721Ala) c.1766A>C (p.Asp589Ala) c.1508A>C (p.Asp503Ala) | |
10 | g.75028675A>G | CA377292295 | DUSP29,KAT6B | c.3851A>G (p.Asp1284Gly) c.3302A>G (p.Asp1101Gly) c.2975A>G (p.Asp992Gly) c.2786A>G (p.Asp929Gly) n.577-2081T>C c.*3622-2081T>C (n.*3622-2081T>C) c.3689A>G (p.Asp1230Gly) c.2813A>G (p.Asp938Gly) c.2162A>G (p.Asp721Gly) c.1766A>G (p.Asp589Gly) c.1508A>G (p.Asp503Gly) | |
10 | g.75028675A>T | CA377292297 | DUSP29,KAT6B | c.3851A>T (p.Asp1284Val) c.3302A>T (p.Asp1101Val) c.2975A>T (p.Asp992Val) c.2786A>T (p.Asp929Val) n.577-2081T>A c.*3622-2081T>A (n.*3622-2081T>A) c.3689A>T (p.Asp1230Val) c.2813A>T (p.Asp938Val) c.2162A>T (p.Asp721Val) c.1766A>T (p.Asp589Val) c.1508A>T (p.Asp503Val) | gnomAD v4 |
10 | g.75028676C>A | CA377292301 | DUSP29,KAT6B | c.3852C>A (p.Asp1284Glu) c.3303C>A (p.Asp1101Glu) c.2976C>A (p.Asp992Glu) c.2787C>A (p.Asp929Glu) n.577-2082G>T c.*3622-2082G>T (n.*3622-2082G>T) c.3690C>A (p.Asp1230Glu) c.2814C>A (p.Asp938Glu) c.2163C>A (p.Asp721Glu) c.1767C>A (p.Asp589Glu) c.1509C>A (p.Asp503Glu) | |
10 | g.75028676C= | CA1920306426 | DUSP29,KAT6B | c.3852C= (p.Asp1284=) c.3303C= (p.Asp1101=) c.2976C= (p.Asp992=) c.2787C= (p.Asp929=) n.577-2082G= c.*3622-2082G= (n.*3622-2082G=) c.3690C= (p.Asp1230=) c.2814C= (p.Asp938=) c.2163C= (p.Asp721=) c.1767C= (p.Asp589=) c.1509C= (p.Asp503=) | |
10 | g.75028676C>G | CA377292304 | DUSP29,KAT6B | c.3852C>G (p.Asp1284Glu) c.3303C>G (p.Asp1101Glu) c.2976C>G (p.Asp992Glu) c.2787C>G (p.Asp929Glu) n.577-2082G>C c.*3622-2082G>C (n.*3622-2082G>C) c.3690C>G (p.Asp1230Glu) c.2814C>G (p.Asp938Glu) c.2163C>G (p.Asp721Glu) c.1767C>G (p.Asp589Glu) c.1509C>G (p.Asp503Glu) | gnomAD v4 |
10 | g.75028676C>T | CA5564917 | DUSP29,KAT6B | c.3852C>T (p.Asp1284=) c.3303C>T (p.Asp1101=) c.2976C>T (p.Asp992=) c.2787C>T (p.Asp929=) n.577-2082G>A c.*3622-2082G>A (n.*3622-2082G>A) c.3690C>T (p.Asp1230=) c.2814C>T (p.Asp938=) c.2163C>T (p.Asp721=) c.1767C>T (p.Asp589=) c.1509C>T (p.Asp503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.75028677G>A | CA377292308 | DUSP29,KAT6B | c.3853G>A (p.Glu1285Lys) c.3304G>A (p.Glu1102Lys) c.2977G>A (p.Glu993Lys) c.2788G>A (p.Glu930Lys) n.577-2083C>T c.*3622-2083C>T (n.*3622-2083C>T) c.3691G>A (p.Glu1231Lys) c.2815G>A (p.Glu939Lys) c.2164G>A (p.Glu722Lys) c.1768G>A (p.Glu590Lys) c.1510G>A (p.Glu504Lys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.75028677G>C | CA377292310 | DUSP29,KAT6B | c.3853G>C (p.Glu1285Gln) c.3304G>C (p.Glu1102Gln) c.2977G>C (p.Glu993Gln) c.2788G>C (p.Glu930Gln) n.577-2083C>G c.*3622-2083C>G (n.*3622-2083C>G) c.3691G>C (p.Glu1231Gln) c.2815G>C (p.Glu939Gln) c.2164G>C (p.Glu722Gln) c.1768G>C (p.Glu590Gln) c.1510G>C (p.Glu504Gln) | |
10 | g.75028677G= | CA1920306427 | DUSP29,KAT6B | c.3853G= (p.Glu1285=) c.3304G= (p.Glu1102=) c.2977G= (p.Glu993=) c.2788G= (p.Glu930=) n.577-2083C= c.*3622-2083C= (n.*3622-2083C=) c.3691G= (p.Glu1231=) c.2815G= (p.Glu939=) c.2164G= (p.Glu722=) c.1768G= (p.Glu590=) c.1510G= (p.Glu504=) | |
10 | g.75028677G>T | CA377292312 | DUSP29,KAT6B | c.3853G>T (p.Glu1285Ter) c.3304G>T (p.Glu1102Ter) c.2977G>T (p.Glu993Ter) c.2788G>T (p.Glu930Ter) n.577-2083C>A c.*3622-2083C>A (n.*3622-2083C>A) c.3691G>T (p.Glu1231Ter) c.2815G>T (p.Glu939Ter) c.2164G>T (p.Glu722Ter) c.1768G>T (p.Glu590Ter) c.1510G>T (p.Glu504Ter) | |
10 | g.75028678A>C | CA377292320 | DUSP29,KAT6B | c.3854A>C (p.Glu1285Ala) c.3305A>C (p.Glu1102Ala) c.2978A>C (p.Glu993Ala) c.2789A>C (p.Glu930Ala) n.577-2084T>G c.*3622-2084T>G (n.*3622-2084T>G) c.3692A>C (p.Glu1231Ala) c.2816A>C (p.Glu939Ala) c.2165A>C (p.Glu722Ala) c.1769A>C (p.Glu590Ala) c.1511A>C (p.Glu504Ala) | |
10 | g.75028678A>G | CA377292322 | DUSP29,KAT6B | c.3854A>G (p.Glu1285Gly) c.3305A>G (p.Glu1102Gly) c.2978A>G (p.Glu993Gly) c.2789A>G (p.Glu930Gly) n.577-2084T>C c.*3622-2084T>C (n.*3622-2084T>C) c.3692A>G (p.Glu1231Gly) c.2816A>G (p.Glu939Gly) c.2165A>G (p.Glu722Gly) c.1769A>G (p.Glu590Gly) c.1511A>G (p.Glu504Gly) | |
10 | g.75028678A>T | CA377292318 | DUSP29,KAT6B | c.3854A>T (p.Glu1285Val) c.3305A>T (p.Glu1102Val) c.2978A>T (p.Glu993Val) c.2789A>T (p.Glu930Val) n.577-2084T>A c.*3622-2084T>A (n.*3622-2084T>A) c.3692A>T (p.Glu1231Val) c.2816A>T (p.Glu939Val) c.2165A>T (p.Glu722Val) c.1769A>T (p.Glu590Val) c.1511A>T (p.Glu504Val) | |
10 | g.75028679G>A | CA5564918 | DUSP29,KAT6B | c.3855G>A (p.Glu1285=) c.3306G>A (p.Glu1102=) c.2979G>A (p.Glu993=) c.2790G>A (p.Glu930=) n.577-2085C>T c.*3622-2085C>T (n.*3622-2085C>T) c.3693G>A (p.Glu1231=) c.2817G>A (p.Glu939=) c.2166G>A (p.Glu722=) c.1770G>A (p.Glu590=) c.1512G>A (p.Glu504=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.75028679G>C | CA377292325 | DUSP29,KAT6B | c.3855G>C (p.Glu1285Asp) c.3306G>C (p.Glu1102Asp) c.2979G>C (p.Glu993Asp) c.2790G>C (p.Glu930Asp) n.577-2085C>G c.*3622-2085C>G (n.*3622-2085C>G) c.3693G>C (p.Glu1231Asp) c.2817G>C (p.Glu939Asp) c.2166G>C (p.Glu722Asp) c.1770G>C (p.Glu590Asp) c.1512G>C (p.Glu504Asp) | |
10 | g.75028679G= | CA1920306428 | DUSP29,KAT6B | c.3855G= (p.Glu1285=) c.3306G= (p.Glu1102=) c.2979G= (p.Glu993=) c.2790G= (p.Glu930=) n.577-2085C= c.*3622-2085C= (n.*3622-2085C=) c.3693G= (p.Glu1231=) c.2817G= (p.Glu939=) c.2166G= (p.Glu722=) c.1770G= (p.Glu590=) c.1512G= (p.Glu504=) | |
10 | g.75028679G>T | CA377292327 | DUSP29,KAT6B | c.3855G>T (p.Glu1285Asp) c.3306G>T (p.Glu1102Asp) c.2979G>T (p.Glu993Asp) c.2790G>T (p.Glu930Asp) n.577-2085C>A c.*3622-2085C>A (n.*3622-2085C>A) c.3693G>T (p.Glu1231Asp) c.2817G>T (p.Glu939Asp) c.2166G>T (p.Glu722Asp) c.1770G>T (p.Glu590Asp) c.1512G>T (p.Glu504Asp) | ClinVar gnomAD v4 |
10 | g.75028680C>A | CA377292330 | DUSP29,KAT6B | c.3856C>A (p.Gln1286Lys) c.3307C>A (p.Gln1103Lys) c.2980C>A (p.Gln994Lys) c.2791C>A (p.Gln931Lys) n.577-2086G>T c.*3622-2086G>T (n.*3622-2086G>T) c.3694C>A (p.Gln1232Lys) c.2818C>A (p.Gln940Lys) c.2167C>A (p.Gln723Lys) c.1771C>A (p.Gln591Lys) c.1513C>A (p.Gln505Lys) | |
10 | g.75028680C>G | CA377292334 | DUSP29,KAT6B | c.3856C>G (p.Gln1286Glu) c.3307C>G (p.Gln1103Glu) c.2980C>G (p.Gln994Glu) c.2791C>G (p.Gln931Glu) n.577-2086G>C c.*3622-2086G>C (n.*3622-2086G>C) c.3694C>G (p.Gln1232Glu) c.2818C>G (p.Gln940Glu) c.2167C>G (p.Gln723Glu) c.1771C>G (p.Gln591Glu) c.1513C>G (p.Gln505Glu) | |
10 | g.75028680C>T | CA377292337 | DUSP29,KAT6B | c.3856C>T (p.Gln1286Ter) c.3307C>T (p.Gln1103Ter) c.2980C>T (p.Gln994Ter) c.2791C>T (p.Gln931Ter) n.577-2086G>A c.*3622-2086G>A (n.*3622-2086G>A) c.3694C>T (p.Gln1232Ter) c.2818C>T (p.Gln940Ter) c.2167C>T (p.Gln723Ter) c.1771C>T (p.Gln591Ter) c.1513C>T (p.Gln505Ter) | ClinVar |
10 | g.75028681del | CA2573053306 | DUSP29,KAT6B | c.3857del (p.Gln1286ArgfsTer2) c.3308del (p.Gln1103ArgfsTer2) c.2981del (p.Gln994ArgfsTer2) c.2792del (p.Gln931ArgfsTer2) n.577-2087del c.*3622-2087del (n.*3622-2087del) c.3695del (p.Gln1232ArgfsTer2) c.2819del (p.Gln940ArgfsTer2) c.2168del (p.Gln723ArgfsTer2) c.1772del (p.Gln591ArgfsTer2) c.1514del (p.Gln505ArgfsTer2) | ClinVar dbSNP |
10 | g.75028681A>C | CA377292341 | DUSP29,KAT6B | c.3857A>C (p.Gln1286Pro) c.3308A>C (p.Gln1103Pro) c.2981A>C (p.Gln994Pro) c.2792A>C (p.Gln931Pro) n.577-2087T>G c.*3622-2087T>G (n.*3622-2087T>G) c.3695A>C (p.Gln1232Pro) c.2819A>C (p.Gln940Pro) c.2168A>C (p.Gln723Pro) c.1772A>C (p.Gln591Pro) c.1514A>C (p.Gln505Pro) | |
10 | g.75028681A>G | CA377292346 | DUSP29,KAT6B | c.3857A>G (p.Gln1286Arg) c.3308A>G (p.Gln1103Arg) c.2981A>G (p.Gln994Arg) c.2792A>G (p.Gln931Arg) n.577-2087T>C c.*3622-2087T>C (n.*3622-2087T>C) c.3695A>G (p.Gln1232Arg) c.2819A>G (p.Gln940Arg) c.2168A>G (p.Gln723Arg) c.1772A>G (p.Gln591Arg) c.1514A>G (p.Gln505Arg) | |
10 | g.75028681A>T | CA377292344 | DUSP29,KAT6B | c.3857A>T (p.Gln1286Leu) c.3308A>T (p.Gln1103Leu) c.2981A>T (p.Gln994Leu) c.2792A>T (p.Gln931Leu) n.577-2087T>A c.*3622-2087T>A (n.*3622-2087T>A) c.3695A>T (p.Gln1232Leu) c.2819A>T (p.Gln940Leu) c.2168A>T (p.Gln723Leu) c.1772A>T (p.Gln591Leu) c.1514A>T (p.Gln505Leu) | |
10 | g.75028682G>A | CA470299563 | DUSP29,KAT6B | c.3858G>A (p.Gln1286=) c.3309G>A (p.Gln1103=) c.2982G>A (p.Gln994=) c.2793G>A (p.Gln931=) n.577-2088C>T c.*3622-2088C>T (n.*3622-2088C>T) c.3696G>A (p.Gln1232=) c.2820G>A (p.Gln940=) c.2169G>A (p.Gln723=) c.1773G>A (p.Gln591=) c.1515G>A (p.Gln505=) | gnomAD v4 |
10 | g.75028682G>C | CA377292350 | DUSP29,KAT6B | c.3858G>C (p.Gln1286His) c.3309G>C (p.Gln1103His) c.2982G>C (p.Gln994His) c.2793G>C (p.Gln931His) n.577-2088C>G c.*3622-2088C>G (n.*3622-2088C>G) c.3696G>C (p.Gln1232His) c.2820G>C (p.Gln940His) c.2169G>C (p.Gln723His) c.1773G>C (p.Gln591His) c.1515G>C (p.Gln505His) | |
10 | g.75028682G>T | CA377292353 | DUSP29,KAT6B | c.3858G>T (p.Gln1286His) c.3309G>T (p.Gln1103His) c.2982G>T (p.Gln994His) c.2793G>T (p.Gln931His) n.577-2088C>A c.*3622-2088C>A (n.*3622-2088C>A) c.3696G>T (p.Gln1232His) c.2820G>T (p.Gln940His) c.2169G>T (p.Gln723His) c.1773G>T (p.Gln591His) c.1515G>T (p.Gln505His) | |
10 | g.75028683G>A | CA377292357 | DUSP29,KAT6B | c.3859G>A (p.Val1287Ile) c.3310G>A (p.Val1104Ile) c.2983G>A (p.Val995Ile) c.2794G>A (p.Val932Ile) n.577-2089C>T c.*3622-2089C>T (n.*3622-2089C>T) c.3697G>A (p.Val1233Ile) c.2821G>A (p.Val941Ile) c.2170G>A (p.Val724Ile) c.1774G>A (p.Val592Ile) c.1516G>A (p.Val506Ile) | gnomAD v4 |
10 | g.75028683G>C | CA377292360 | DUSP29,KAT6B | c.3859G>C (p.Val1287Leu) c.3310G>C (p.Val1104Leu) c.2983G>C (p.Val995Leu) c.2794G>C (p.Val932Leu) n.577-2089C>G c.*3622-2089C>G (n.*3622-2089C>G) c.3697G>C (p.Val1233Leu) c.2821G>C (p.Val941Leu) c.2170G>C (p.Val724Leu) c.1774G>C (p.Val592Leu) c.1516G>C (p.Val506Leu) | |
10 | g.75028683G>T | CA377292362 | DUSP29,KAT6B | c.3859G>T (p.Val1287Leu) c.3310G>T (p.Val1104Leu) c.2983G>T (p.Val995Leu) c.2794G>T (p.Val932Leu) n.577-2089C>A c.*3622-2089C>A (n.*3622-2089C>A) c.3697G>T (p.Val1233Leu) c.2821G>T (p.Val941Leu) c.2170G>T (p.Val724Leu) c.1774G>T (p.Val592Leu) c.1516G>T (p.Val506Leu) | |
10 | g.75028684T>A | CA377292370 | DUSP29,KAT6B | c.3860T>A (p.Val1287Glu) c.3311T>A (p.Val1104Glu) c.2984T>A (p.Val995Glu) c.2795T>A (p.Val932Glu) n.577-2090A>T c.*3622-2090A>T (n.*3622-2090A>T) c.3698T>A (p.Val1233Glu) c.2822T>A (p.Val941Glu) c.2171T>A (p.Val724Glu) c.1775T>A (p.Val592Glu) c.1517T>A (p.Val506Glu) | |
10 | g.75028684T>C | CA377292372 | DUSP29,KAT6B | c.3860T>C (p.Val1287Ala) c.3311T>C (p.Val1104Ala) c.2984T>C (p.Val995Ala) c.2795T>C (p.Val932Ala) n.577-2090A>G c.*3622-2090A>G (n.*3622-2090A>G) c.3698T>C (p.Val1233Ala) c.2822T>C (p.Val941Ala) c.2171T>C (p.Val724Ala) c.1775T>C (p.Val592Ala) c.1517T>C (p.Val506Ala) | |
10 | g.75028684T>G | CA377292367 | DUSP29,KAT6B | c.3860T>G (p.Val1287Gly) c.3311T>G (p.Val1104Gly) c.2984T>G (p.Val995Gly) c.2795T>G (p.Val932Gly) n.577-2090A>C c.*3622-2090A>C (n.*3622-2090A>C) c.3698T>G (p.Val1233Gly) c.2822T>G (p.Val941Gly) c.2171T>G (p.Val724Gly) c.1775T>G (p.Val592Gly) c.1517T>G (p.Val506Gly) | |
10 | g.75028684_75028687del | CA2695212198 | DUSP29,KAT6B | c.3860_3863del (p.Val1287GlufsTer?) c.3311_3314del (p.Val1104GlufsTer?) c.2984_2987del (p.Val995GlufsTer?) c.2795_2798del (p.Val932GlufsTer?) n.577-2093_577-2090del c.*3622-2093_*3622-2090del (n.*3622-2093_*3622-2090del) c.3698_3701del (p.Val1233GlufsTer?) c.2822_2825del (p.Val941GlufsTer?) c.2171_2174del (p.Val724GlufsTer?) c.1775_1778del (p.Val592GlufsTer?) c.1517_1520del (p.Val506GlufsTer?) | |
10 | g.75028685A>C | CA470299566 | DUSP29,KAT6B | c.3861A>C (p.Val1287=) c.3312A>C (p.Val1104=) c.2985A>C (p.Val995=) c.2796A>C (p.Val932=) n.577-2091T>G c.*3622-2091T>G (n.*3622-2091T>G) c.3699A>C (p.Val1233=) c.2823A>C (p.Val941=) c.2172A>C (p.Val724=) c.1776A>C (p.Val592=) c.1518A>C (p.Val506=) | |
10 | g.75028685A>G | CA470299565 | DUSP29,KAT6B | c.3861A>G (p.Val1287=) c.3312A>G (p.Val1104=) c.2985A>G (p.Val995=) c.2796A>G (p.Val932=) n.577-2091T>C c.*3622-2091T>C (n.*3622-2091T>C) c.3699A>G (p.Val1233=) c.2823A>G (p.Val941=) c.2172A>G (p.Val724=) c.1776A>G (p.Val592=) c.1518A>G (p.Val506=) | |
10 | g.75028685A>T | CA470299564 | DUSP29,KAT6B | c.3861A>T (p.Val1287=) c.3312A>T (p.Val1104=) c.2985A>T (p.Val995=) c.2796A>T (p.Val932=) n.577-2091T>A c.*3622-2091T>A (n.*3622-2091T>A) c.3699A>T (p.Val1233=) c.2823A>T (p.Val941=) c.2172A>T (p.Val724=) c.1776A>T (p.Val592=) c.1518A>T (p.Val506=) | |
10 | g.75028686A>C | CA377292377 | DUSP29,KAT6B | c.3862A>C (p.Thr1288Pro) c.3313A>C (p.Thr1105Pro) c.2986A>C (p.Thr996Pro) c.2797A>C (p.Thr933Pro) n.577-2092T>G c.*3622-2092T>G (n.*3622-2092T>G) c.3700A>C (p.Thr1234Pro) c.2824A>C (p.Thr942Pro) c.2173A>C (p.Thr725Pro) c.1777A>C (p.Thr593Pro) c.1519A>C (p.Thr507Pro) | |
10 | g.75028686A>G | CA377292384 | DUSP29,KAT6B | c.3862A>G (p.Thr1288Ala) c.3313A>G (p.Thr1105Ala) c.2986A>G (p.Thr996Ala) c.2797A>G (p.Thr933Ala) n.577-2092T>C c.*3622-2092T>C (n.*3622-2092T>C) c.3700A>G (p.Thr1234Ala) c.2824A>G (p.Thr942Ala) c.2173A>G (p.Thr725Ala) c.1777A>G (p.Thr593Ala) c.1519A>G (p.Thr507Ala) | |
10 | g.75028686A>T | CA377292380 | DUSP29,KAT6B | c.3862A>T (p.Thr1288Ser) c.3313A>T (p.Thr1105Ser) c.2986A>T (p.Thr996Ser) c.2797A>T (p.Thr933Ser) n.577-2092T>A c.*3622-2092T>A (n.*3622-2092T>A) c.3700A>T (p.Thr1234Ser) c.2824A>T (p.Thr942Ser) c.2173A>T (p.Thr725Ser) c.1777A>T (p.Thr593Ser) c.1519A>T (p.Thr507Ser) | |
10 | g.75028687C>A | CA377292388 | DUSP29,KAT6B | c.3863C>A (p.Thr1288Lys) c.3314C>A (p.Thr1105Lys) c.2987C>A (p.Thr996Lys) c.2798C>A (p.Thr933Lys) n.577-2093G>T c.*3622-2093G>T (n.*3622-2093G>T) c.3701C>A (p.Thr1234Lys) c.2825C>A (p.Thr942Lys) c.2174C>A (p.Thr725Lys) c.1778C>A (p.Thr593Lys) c.1520C>A (p.Thr507Lys) | gnomAD v4 |
10 | g.75028687C>G | CA377292392 | DUSP29,KAT6B | c.3863C>G (p.Thr1288Arg) c.3314C>G (p.Thr1105Arg) c.2987C>G (p.Thr996Arg) c.2798C>G (p.Thr933Arg) n.577-2093G>C c.*3622-2093G>C (n.*3622-2093G>C) c.3701C>G (p.Thr1234Arg) c.2825C>G (p.Thr942Arg) c.2174C>G (p.Thr725Arg) c.1778C>G (p.Thr593Arg) c.1520C>G (p.Thr507Arg) | |
10 | g.75028687C>T | CA377292390 | DUSP29,KAT6B | c.3863C>T (p.Thr1288Ile) c.3314C>T (p.Thr1105Ile) c.2987C>T (p.Thr996Ile) c.2798C>T (p.Thr933Ile) n.577-2093G>A c.*3622-2093G>A (n.*3622-2093G>A) c.3701C>T (p.Thr1234Ile) c.2825C>T (p.Thr942Ile) c.2174C>T (p.Thr725Ile) c.1778C>T (p.Thr593Ile) c.1520C>T (p.Thr507Ile) | gnomAD v4 |
10 | g.75028688A>C | CA470299567 | DUSP29,KAT6B | c.3864A>C (p.Thr1288=) c.3315A>C (p.Thr1105=) c.2988A>C (p.Thr996=) c.2799A>C (p.Thr933=) n.577-2094T>G c.*3622-2094T>G (n.*3622-2094T>G) c.3702A>C (p.Thr1234=) c.2826A>C (p.Thr942=) c.2175A>C (p.Thr725=) c.1779A>C (p.Thr593=) c.1521A>C (p.Thr507=) | |
10 | g.75028688A>G | CA470299568 | DUSP29,KAT6B | c.3864A>G (p.Thr1288=) c.3315A>G (p.Thr1105=) c.2988A>G (p.Thr996=) c.2799A>G (p.Thr933=) n.577-2094T>C c.*3622-2094T>C (n.*3622-2094T>C) c.3702A>G (p.Thr1234=) c.2826A>G (p.Thr942=) c.2175A>G (p.Thr725=) c.1779A>G (p.Thr593=) c.1521A>G (p.Thr507=) | |
10 | g.75028688A>T | CA470299569 | DUSP29,KAT6B | c.3864A>T (p.Thr1288=) c.3315A>T (p.Thr1105=) c.2988A>T (p.Thr996=) c.2799A>T (p.Thr933=) n.577-2094T>A c.*3622-2094T>A (n.*3622-2094T>A) c.3702A>T (p.Thr1234=) c.2826A>T (p.Thr942=) c.2175A>T (p.Thr725=) c.1779A>T (p.Thr593=) c.1521A>T (p.Thr507=) | gnomAD v4 |
10 | g.75028689G>A | CA377292397 | DUSP29,KAT6B | c.3865G>A (p.Val1289Met) c.3316G>A (p.Val1106Met) c.2989G>A (p.Val997Met) c.2800G>A (p.Val934Met) n.577-2095C>T c.*3622-2095C>T (n.*3622-2095C>T) c.3703G>A (p.Val1235Met) c.2827G>A (p.Val943Met) c.2176G>A (p.Val726Met) c.1780G>A (p.Val594Met) c.1522G>A (p.Val508Met) | gnomAD v4 |
10 | g.75028689G>C | CA377292399 | DUSP29,KAT6B | c.3865G>C (p.Val1289Leu) c.3316G>C (p.Val1106Leu) c.2989G>C (p.Val997Leu) c.2800G>C (p.Val934Leu) n.577-2095C>G c.*3622-2095C>G (n.*3622-2095C>G) c.3703G>C (p.Val1235Leu) c.2827G>C (p.Val943Leu) c.2176G>C (p.Val726Leu) c.1780G>C (p.Val594Leu) c.1522G>C (p.Val508Leu) | |
10 | g.75028689G>T | CA377292401 | DUSP29,KAT6B | c.3865G>T (p.Val1289Leu) c.3316G>T (p.Val1106Leu) c.2989G>T (p.Val997Leu) c.2800G>T (p.Val934Leu) n.577-2095C>A c.*3622-2095C>A (n.*3622-2095C>A) c.3703G>T (p.Val1235Leu) c.2827G>T (p.Val943Leu) c.2176G>T (p.Val726Leu) c.1780G>T (p.Val594Leu) c.1522G>T (p.Val508Leu) | |
10 | g.75028690T>A | CA377292403 | DUSP29,KAT6B | c.3866T>A (p.Val1289Glu) c.3317T>A (p.Val1106Glu) c.2990T>A (p.Val997Glu) c.2801T>A (p.Val934Glu) n.577-2096A>T c.*3622-2096A>T (n.*3622-2096A>T) c.3704T>A (p.Val1235Glu) c.2828T>A (p.Val943Glu) c.2177T>A (p.Val726Glu) c.1781T>A (p.Val594Glu) c.1523T>A (p.Val508Glu) | |
10 | g.75028690T>C | CA377292407 | DUSP29,KAT6B | c.3866T>C (p.Val1289Ala) c.3317T>C (p.Val1106Ala) c.2990T>C (p.Val997Ala) c.2801T>C (p.Val934Ala) n.577-2096A>G c.*3622-2096A>G (n.*3622-2096A>G) c.3704T>C (p.Val1235Ala) c.2828T>C (p.Val943Ala) c.2177T>C (p.Val726Ala) c.1781T>C (p.Val594Ala) c.1523T>C (p.Val508Ala) | |
10 | g.75028690T>G | CA377292409 | DUSP29,KAT6B | c.3866T>G (p.Val1289Gly) c.3317T>G (p.Val1106Gly) c.2990T>G (p.Val997Gly) c.2801T>G (p.Val934Gly) n.577-2096A>C c.*3622-2096A>C (n.*3622-2096A>C) c.3704T>G (p.Val1235Gly) c.2828T>G (p.Val943Gly) c.2177T>G (p.Val726Gly) c.1781T>G (p.Val594Gly) c.1523T>G (p.Val508Gly) | |
10 | g.75028691G>A | CA470299570 | DUSP29,KAT6B | c.3867G>A (p.Val1289=) c.3318G>A (p.Val1106=) c.2991G>A (p.Val997=) c.2802G>A (p.Val934=) n.577-2097C>T c.*3622-2097C>T (n.*3622-2097C>T) c.3705G>A (p.Val1235=) c.2829G>A (p.Val943=) c.2178G>A (p.Val726=) c.1782G>A (p.Val594=) c.1524G>A (p.Val508=) | gnomAD v4 |
10 | g.75028691G>C | CA470299571 | DUSP29,KAT6B | c.3867G>C (p.Val1289=) c.3318G>C (p.Val1106=) c.2991G>C (p.Val997=) c.2802G>C (p.Val934=) n.577-2097C>G c.*3622-2097C>G (n.*3622-2097C>G) c.3705G>C (p.Val1235=) c.2829G>C (p.Val943=) c.2178G>C (p.Val726=) c.1782G>C (p.Val594=) c.1524G>C (p.Val508=) | |
10 | g.75028691G>T | CA470299572 | DUSP29,KAT6B | c.3867G>T (p.Val1289=) c.3318G>T (p.Val1106=) c.2991G>T (p.Val997=) c.2802G>T (p.Val934=) n.577-2097C>A c.*3622-2097C>A (n.*3622-2097C>A) c.3705G>T (p.Val1235=) c.2829G>T (p.Val943=) c.2178G>T (p.Val726=) c.1782G>T (p.Val594=) c.1524G>T (p.Val508=) | |
10 | g.75028692G>A | CA377292420 | DUSP29,KAT6B | c.3868G>A (p.Glu1290Lys) c.3319G>A (p.Glu1107Lys) c.2992G>A (p.Glu998Lys) c.2803G>A (p.Glu935Lys) n.577-2098C>T c.*3622-2098C>T (n.*3622-2098C>T) c.3706G>A (p.Glu1236Lys) c.2830G>A (p.Glu944Lys) c.2179G>A (p.Glu727Lys) c.1783G>A (p.Glu595Lys) c.1525G>A (p.Glu509Lys) | |
10 | g.75028692G>C | CA377292414 | DUSP29,KAT6B | c.3868G>C (p.Glu1290Gln) c.3319G>C (p.Glu1107Gln) c.2992G>C (p.Glu998Gln) c.2803G>C (p.Glu935Gln) n.577-2098C>G c.*3622-2098C>G (n.*3622-2098C>G) c.3706G>C (p.Glu1236Gln) c.2830G>C (p.Glu944Gln) c.2179G>C (p.Glu727Gln) c.1783G>C (p.Glu595Gln) c.1525G>C (p.Glu509Gln) | |
10 | g.75028692G>T | CA377292417 | DUSP29,KAT6B | c.3868G>T (p.Glu1290Ter) c.3319G>T (p.Glu1107Ter) c.2992G>T (p.Glu998Ter) c.2803G>T (p.Glu935Ter) n.577-2098C>A c.*3622-2098C>A (n.*3622-2098C>A) c.3706G>T (p.Glu1236Ter) c.2830G>T (p.Glu944Ter) c.2179G>T (p.Glu727Ter) c.1783G>T (p.Glu595Ter) c.1525G>T (p.Glu509Ter) | |
10 | g.75028693A>C | CA377292424 | DUSP29,KAT6B | c.3869A>C (p.Glu1290Ala) c.3320A>C (p.Glu1107Ala) c.2993A>C (p.Glu998Ala) c.2804A>C (p.Glu935Ala) n.577-2099T>G c.*3622-2099T>G (n.*3622-2099T>G) c.3707A>C (p.Glu1236Ala) c.2831A>C (p.Glu944Ala) c.2180A>C (p.Glu727Ala) c.1784A>C (p.Glu595Ala) c.1526A>C (p.Glu509Ala) | |
10 | g.75028693A>G | CA377292426 | DUSP29,KAT6B | c.3869A>G (p.Glu1290Gly) c.3320A>G (p.Glu1107Gly) c.2993A>G (p.Glu998Gly) c.2804A>G (p.Glu935Gly) n.577-2099T>C c.*3622-2099T>C (n.*3622-2099T>C) c.3707A>G (p.Glu1236Gly) c.2831A>G (p.Glu944Gly) c.2180A>G (p.Glu727Gly) c.1784A>G (p.Glu595Gly) c.1526A>G (p.Glu509Gly) | |
10 | g.75028693A>T | CA377292431 | DUSP29,KAT6B | c.3869A>T (p.Glu1290Val) c.3320A>T (p.Glu1107Val) c.2993A>T (p.Glu998Val) c.2804A>T (p.Glu935Val) n.577-2099T>A c.*3622-2099T>A (n.*3622-2099T>A) c.3707A>T (p.Glu1236Val) c.2831A>T (p.Glu944Val) c.2180A>T (p.Glu727Val) c.1784A>T (p.Glu595Val) c.1526A>T (p.Glu509Val) | |
10 | g.75028694A>C | CA377292435 | DUSP29,KAT6B | c.3870A>C (p.Glu1290Asp) c.3321A>C (p.Glu1107Asp) c.2994A>C (p.Glu998Asp) c.2805A>C (p.Glu935Asp) n.577-2100T>G c.*3622-2100T>G (n.*3622-2100T>G) c.3708A>C (p.Glu1236Asp) c.2832A>C (p.Glu944Asp) c.2181A>C (p.Glu727Asp) c.1785A>C (p.Glu595Asp) c.1527A>C (p.Glu509Asp) | |
10 | g.75028694A>G | CA470299573 | DUSP29,KAT6B | c.3870A>G (p.Glu1290=) c.3321A>G (p.Glu1107=) c.2994A>G (p.Glu998=) c.2805A>G (p.Glu935=) n.577-2100T>C c.*3622-2100T>C (n.*3622-2100T>C) c.3708A>G (p.Glu1236=) c.2832A>G (p.Glu944=) c.2181A>G (p.Glu727=) c.1785A>G (p.Glu595=) c.1527A>G (p.Glu509=) | |
10 | g.75028694A>T | CA377292437 | DUSP29,KAT6B | c.3870A>T (p.Glu1290Asp) c.3321A>T (p.Glu1107Asp) c.2994A>T (p.Glu998Asp) c.2805A>T (p.Glu935Asp) n.577-2100T>A c.*3622-2100T>A (n.*3622-2100T>A) c.3708A>T (p.Glu1236Asp) c.2832A>T (p.Glu944Asp) c.2181A>T (p.Glu727Asp) c.1785A>T (p.Glu595Asp) c.1527A>T (p.Glu509Asp) | |
10 | g.75028695G>A | CA377292440 | DUSP29,KAT6B | c.3871G>A (p.Glu1291Lys) c.3322G>A (p.Glu1108Lys) c.2995G>A (p.Glu999Lys) c.2806G>A (p.Glu936Lys) n.577-2101C>T c.*3622-2101C>T (n.*3622-2101C>T) c.3709G>A (p.Glu1237Lys) c.2833G>A (p.Glu945Lys) c.2182G>A (p.Glu728Lys) c.1786G>A (p.Glu596Lys) c.1528G>A (p.Glu510Lys) | |
10 | g.75028695G>C | CA377292447 | DUSP29,KAT6B | c.3871G>C (p.Glu1291Gln) c.3322G>C (p.Glu1108Gln) c.2995G>C (p.Glu999Gln) c.2806G>C (p.Glu936Gln) n.577-2101C>G c.*3622-2101C>G (n.*3622-2101C>G) c.3709G>C (p.Glu1237Gln) c.2833G>C (p.Glu945Gln) c.2182G>C (p.Glu728Gln) c.1786G>C (p.Glu596Gln) c.1528G>C (p.Glu510Gln) | |
10 | g.75028695G>T | CA377292445 | DUSP29,KAT6B | c.3871G>T (p.Glu1291Ter) c.3322G>T (p.Glu1108Ter) c.2995G>T (p.Glu999Ter) c.2806G>T (p.Glu936Ter) n.577-2101C>A c.*3622-2101C>A (n.*3622-2101C>A) c.3709G>T (p.Glu1237Ter) c.2833G>T (p.Glu945Ter) c.2182G>T (p.Glu728Ter) c.1786G>T (p.Glu596Ter) c.1528G>T (p.Glu510Ter) | |
10 | g.75028696A>C | CA377292451 | DUSP29,KAT6B | c.3872A>C (p.Glu1291Ala) c.3323A>C (p.Glu1108Ala) c.2996A>C (p.Glu999Ala) c.2807A>C (p.Glu936Ala) n.577-2102T>G c.*3622-2102T>G (n.*3622-2102T>G) c.3710A>C (p.Glu1237Ala) c.2834A>C (p.Glu945Ala) c.2183A>C (p.Glu728Ala) c.1787A>C (p.Glu596Ala) c.1529A>C (p.Glu510Ala) | |
10 | g.75028696A>G | CA377292454 | DUSP29,KAT6B | c.3872A>G (p.Glu1291Gly) c.3323A>G (p.Glu1108Gly) c.2996A>G (p.Glu999Gly) c.2807A>G (p.Glu936Gly) n.577-2102T>C c.*3622-2102T>C (n.*3622-2102T>C) c.3710A>G (p.Glu1237Gly) c.2834A>G (p.Glu945Gly) c.2183A>G (p.Glu728Gly) c.1787A>G (p.Glu596Gly) c.1529A>G (p.Glu510Gly) | |
10 | g.75028696A>T | CA377292457 | DUSP29,KAT6B | c.3872A>T (p.Glu1291Val) c.3323A>T (p.Glu1108Val) c.2996A>T (p.Glu999Val) c.2807A>T (p.Glu936Val) n.577-2102T>A c.*3622-2102T>A (n.*3622-2102T>A) c.3710A>T (p.Glu1237Val) c.2834A>T (p.Glu945Val) c.2183A>T (p.Glu728Val) c.1787A>T (p.Glu596Val) c.1529A>T (p.Glu510Val) | |
10 | g.75028697A>C | CA377292461 | DUSP29,KAT6B | c.3873A>C (p.Glu1291Asp) c.3324A>C (p.Glu1108Asp) c.2997A>C (p.Glu999Asp) c.2808A>C (p.Glu936Asp) n.577-2103T>G c.*3622-2103T>G (n.*3622-2103T>G) c.3711A>C (p.Glu1237Asp) c.2835A>C (p.Glu945Asp) c.2184A>C (p.Glu728Asp) c.1788A>C (p.Glu596Asp) c.1530A>C (p.Glu510Asp) | |
10 | g.75028697A>G | CA470299574 | DUSP29,KAT6B | c.3873A>G (p.Glu1291=) c.3324A>G (p.Glu1108=) c.2997A>G (p.Glu999=) c.2808A>G (p.Glu936=) n.577-2103T>C c.*3622-2103T>C (n.*3622-2103T>C) c.3711A>G (p.Glu1237=) c.2835A>G (p.Glu945=) c.2184A>G (p.Glu728=) c.1788A>G (p.Glu596=) c.1530A>G (p.Glu510=) | |
10 | g.75028697A>T | CA377292462 | DUSP29,KAT6B | c.3873A>T (p.Glu1291Asp) c.3324A>T (p.Glu1108Asp) c.2997A>T (p.Glu999Asp) c.2808A>T (p.Glu936Asp) n.577-2103T>A c.*3622-2103T>A (n.*3622-2103T>A) c.3711A>T (p.Glu1237Asp) c.2835A>T (p.Glu945Asp) c.2184A>T (p.Glu728Asp) c.1788A>T (p.Glu596Asp) c.1530A>T (p.Glu510Asp) | |
10 | g.75028698C>A | CA377292465 | DUSP29,KAT6B | c.3874C>A (p.Gln1292Lys) c.3325C>A (p.Gln1109Lys) c.2998C>A (p.Gln1000Lys) c.2809C>A (p.Gln937Lys) n.577-2104G>T c.*3622-2104G>T (n.*3622-2104G>T) c.3712C>A (p.Gln1238Lys) c.2836C>A (p.Gln946Lys) c.2185C>A (p.Gln729Lys) c.1789C>A (p.Gln597Lys) c.1531C>A (p.Gln511Lys) | |
10 | g.75028698C>G | CA377292466 | DUSP29,KAT6B | c.3874C>G (p.Gln1292Glu) c.3325C>G (p.Gln1109Glu) c.2998C>G (p.Gln1000Glu) c.2809C>G (p.Gln937Glu) n.577-2104G>C c.*3622-2104G>C (n.*3622-2104G>C) c.3712C>G (p.Gln1238Glu) c.2836C>G (p.Gln946Glu) c.2185C>G (p.Gln729Glu) c.1789C>G (p.Gln597Glu) c.1531C>G (p.Gln511Glu) | |
10 | g.75028698C>T | CA377292467 | DUSP29,KAT6B | c.3874C>T (p.Gln1292Ter) c.3325C>T (p.Gln1109Ter) c.2998C>T (p.Gln1000Ter) c.2809C>T (p.Gln937Ter) n.577-2104G>A c.*3622-2104G>A (n.*3622-2104G>A) c.3712C>T (p.Gln1238Ter) c.2836C>T (p.Gln946Ter) c.2185C>T (p.Gln729Ter) c.1789C>T (p.Gln597Ter) c.1531C>T (p.Gln511Ter) | |
10 | g.75028699A>C | CA377292468 | DUSP29,KAT6B | c.3875A>C (p.Gln1292Pro) c.3326A>C (p.Gln1109Pro) c.2999A>C (p.Gln1000Pro) c.2810A>C (p.Gln937Pro) n.577-2105T>G c.*3622-2105T>G (n.*3622-2105T>G) c.3713A>C (p.Gln1238Pro) c.2837A>C (p.Gln946Pro) c.2186A>C (p.Gln729Pro) c.1790A>C (p.Gln597Pro) c.1532A>C (p.Gln511Pro) | |
10 | g.75028699A>G | CA377292469 | DUSP29,KAT6B | c.3875A>G (p.Gln1292Arg) c.3326A>G (p.Gln1109Arg) c.2999A>G (p.Gln1000Arg) c.2810A>G (p.Gln937Arg) n.577-2105T>C c.*3622-2105T>C (n.*3622-2105T>C) c.3713A>G (p.Gln1238Arg) c.2837A>G (p.Gln946Arg) c.2186A>G (p.Gln729Arg) c.1790A>G (p.Gln597Arg) c.1532A>G (p.Gln511Arg) | |
10 | g.75028699A>T | CA377292470 | DUSP29,KAT6B | c.3875A>T (p.Gln1292Leu) c.3326A>T (p.Gln1109Leu) c.2999A>T (p.Gln1000Leu) c.2810A>T (p.Gln937Leu) n.577-2105T>A c.*3622-2105T>A (n.*3622-2105T>A) c.3713A>T (p.Gln1238Leu) c.2837A>T (p.Gln946Leu) c.2186A>T (p.Gln729Leu) c.1790A>T (p.Gln597Leu) c.1532A>T (p.Gln511Leu) | |
10 | g.75028701_75028703del | CA2609745696 | DUSP29,KAT6B | c.3877_3879del (p.Lys1293del) c.3328_3330del (p.Lys1110del) c.3001_3003del (p.Lys1001del) c.2812_2814del (p.Lys938del) n.577-2107_577-2105del c.*3622-2107_*3622-2105del (n.*3622-2107_*3622-2105del) c.3715_3717del (p.Lys1239del) c.2839_2841del (p.Lys947del) c.2188_2190del (p.Lys730del) c.1792_1794del (p.Lys598del) c.1534_1536del (p.Lys512del) | dbSNP gnomAD v4 |
10 | g.75028700G>A | CA470299575 | DUSP29,KAT6B | c.3876G>A (p.Gln1292=) c.3327G>A (p.Gln1109=) c.3000G>A (p.Gln1000=) c.2811G>A (p.Gln937=) n.577-2106C>T c.*3622-2106C>T (n.*3622-2106C>T) c.3714G>A (p.Gln1238=) c.2838G>A (p.Gln946=) c.2187G>A (p.Gln729=) c.1791G>A (p.Gln597=) c.1533G>A (p.Gln511=) | |
10 | g.75028700G>C | CA377292471 | DUSP29,KAT6B | c.3876G>C (p.Gln1292His) c.3327G>C (p.Gln1109His) c.3000G>C (p.Gln1000His) c.2811G>C (p.Gln937His) n.577-2106C>G c.*3622-2106C>G (n.*3622-2106C>G) c.3714G>C (p.Gln1238His) c.2838G>C (p.Gln946His) c.2187G>C (p.Gln729His) c.1791G>C (p.Gln597His) c.1533G>C (p.Gln511His) | |
10 | g.75028700G>T | CA377292472 | DUSP29,KAT6B | c.3876G>T (p.Gln1292His) c.3327G>T (p.Gln1109His) c.3000G>T (p.Gln1000His) c.2811G>T (p.Gln937His) n.577-2106C>A c.*3622-2106C>A (n.*3622-2106C>A) c.3714G>T (p.Gln1238His) c.2838G>T (p.Gln946His) c.2187G>T (p.Gln729His) c.1791G>T (p.Gln597His) c.1533G>T (p.Gln511His) | |
10 | g.75028701A= | CA1920306429 | DUSP29,KAT6B | c.3877A= (p.Lys1293=) c.3328A= (p.Lys1110=) c.3001A= (p.Lys1001=) c.2812A= (p.Lys938=) n.577-2107T= c.*3622-2107T= (n.*3622-2107T=) c.3715A= (p.Lys1239=) c.2839A= (p.Lys947=) c.2188A= (p.Lys730=) c.1792A= (p.Lys598=) c.1534A= (p.Lys512=) | |
10 | g.75028701A>C | CA377292474 | DUSP29,KAT6B | c.3877A>C (p.Lys1293Gln) c.3328A>C (p.Lys1110Gln) c.3001A>C (p.Lys1001Gln) c.2812A>C (p.Lys938Gln) n.577-2107T>G c.*3622-2107T>G (n.*3622-2107T>G) c.3715A>C (p.Lys1239Gln) c.2839A>C (p.Lys947Gln) c.2188A>C (p.Lys730Gln) c.1792A>C (p.Lys598Gln) c.1534A>C (p.Lys512Gln) | |
10 | g.75028701A>G | CA377292476 | DUSP29,KAT6B | c.3877A>G (p.Lys1293Glu) c.3328A>G (p.Lys1110Glu) c.3001A>G (p.Lys1001Glu) c.2812A>G (p.Lys938Glu) n.577-2107T>C c.*3622-2107T>C (n.*3622-2107T>C) c.3715A>G (p.Lys1239Glu) c.2839A>G (p.Lys947Glu) c.2188A>G (p.Lys730Glu) c.1792A>G (p.Lys598Glu) c.1534A>G (p.Lys512Glu) | ClinVar |
10 | g.75028701A>T | CA232609 | DUSP29,KAT6B | c.3877A>T (p.Lys1293Ter) c.3328A>T (p.Lys1110Ter) c.3001A>T (p.Lys1001Ter) c.2812A>T (p.Lys938Ter) n.577-2107T>A c.*3622-2107T>A (n.*3622-2107T>A) c.3715A>T (p.Lys1239Ter) c.2839A>T (p.Lys947Ter) c.2188A>T (p.Lys730Ter) c.1792A>T (p.Lys598Ter) c.1534A>T (p.Lys512Ter) | ClinVar dbSNP |
10 | g.75028701_75028704delinsAAGG | CA1920306430 | DUSP29,KAT6B | c.3877_3880delinsAAGG (p.Lys1293=) c.3328_3331delinsAAGG (p.Lys1110=) c.3001_3004delinsAAGG (p.Lys1001=) c.2812_2815delinsAAGG (p.Lys938=) n.577-2110_577-2107delinsCCTT c.*3622-2110_*3622-2107delinsCCTT (n.*3622-2110_*3622-2107delinsCCTT) c.3715_3718delinsAAGG (p.Lys1239=) c.2839_2842delinsAAGG (p.Lys947=) c.2188_2191delinsAAGG (p.Lys730=) c.1792_1795delinsAAGG (p.Lys598=) c.1534_1537delinsAAGG (p.Lys512=) | |
10 | g.75028702A>C | CA377292479 | DUSP29,KAT6B | c.3878A>C (p.Lys1293Thr) c.3329A>C (p.Lys1110Thr) c.3002A>C (p.Lys1001Thr) c.2813A>C (p.Lys938Thr) n.577-2108T>G c.*3622-2108T>G (n.*3622-2108T>G) c.3716A>C (p.Lys1239Thr) c.2840A>C (p.Lys947Thr) c.2189A>C (p.Lys730Thr) c.1793A>C (p.Lys598Thr) c.1535A>C (p.Lys512Thr) | |
10 | g.75028702A>G | CA377292481 | DUSP29,KAT6B | c.3878A>G (p.Lys1293Arg) c.3329A>G (p.Lys1110Arg) c.3002A>G (p.Lys1001Arg) c.2813A>G (p.Lys938Arg) n.577-2108T>C c.*3622-2108T>C (n.*3622-2108T>C) c.3716A>G (p.Lys1239Arg) c.2840A>G (p.Lys947Arg) c.2189A>G (p.Lys730Arg) c.1793A>G (p.Lys598Arg) c.1535A>G (p.Lys512Arg) | |
10 | g.75028702A>T | CA377292483 | DUSP29,KAT6B | c.3878A>T (p.Lys1293Met) c.3329A>T (p.Lys1110Met) c.3002A>T (p.Lys1001Met) c.2813A>T (p.Lys938Met) n.577-2108T>A c.*3622-2108T>A (n.*3622-2108T>A) c.3716A>T (p.Lys1239Met) c.2840A>T (p.Lys947Met) c.2189A>T (p.Lys730Met) c.1793A>T (p.Lys598Met) c.1535A>T (p.Lys512Met) | |
10 | g.75028704_75028706del | CA1920306431 | DUSP29,KAT6B | c.3880_3882del (p.Glu1294del) c.3331_3333del (p.Glu1111del) c.3004_3006del (p.Glu1002del) c.2815_2817del (p.Glu939del) n.577-2110_577-2108del c.*3622-2110_*3622-2108del (n.*3622-2110_*3622-2108del) c.3718_3720del (p.Glu1240del) c.2842_2844del (p.Glu948del) c.2191_2193del (p.Glu731del) c.1795_1797del (p.Glu599del) c.1537_1539del (p.Glu513del) | dbSNP |
10 | g.75028703G>A | CA470299576 | DUSP29,KAT6B | c.3879G>A (p.Lys1293=) c.3330G>A (p.Lys1110=) c.3003G>A (p.Lys1001=) c.2814G>A (p.Lys938=) n.577-2109C>T c.*3622-2109C>T (n.*3622-2109C>T) c.3717G>A (p.Lys1239=) c.2841G>A (p.Lys947=) c.2190G>A (p.Lys730=) c.1794G>A (p.Lys598=) c.1536G>A (p.Lys512=) | |
10 | g.75028703G>C | CA377292484 | DUSP29,KAT6B | c.3879G>C (p.Lys1293Asn) c.3330G>C (p.Lys1110Asn) c.3003G>C (p.Lys1001Asn) c.2814G>C (p.Lys938Asn) n.577-2109C>G c.*3622-2109C>G (n.*3622-2109C>G) c.3717G>C (p.Lys1239Asn) c.2841G>C (p.Lys947Asn) c.2190G>C (p.Lys730Asn) c.1794G>C (p.Lys598Asn) c.1536G>C (p.Lys512Asn) | |
10 | g.75028703G>T | CA377292486 | DUSP29,KAT6B | c.3879G>T (p.Lys1293Asn) c.3330G>T (p.Lys1110Asn) c.3003G>T (p.Lys1001Asn) c.2814G>T (p.Lys938Asn) n.577-2109C>A c.*3622-2109C>A (n.*3622-2109C>A) c.3717G>T (p.Lys1239Asn) c.2841G>T (p.Lys947Asn) c.2190G>T (p.Lys730Asn) c.1794G>T (p.Lys598Asn) c.1536G>T (p.Lys512Asn) | |
10 | g.75028704G>A | CA377292488 | DUSP29,KAT6B | c.3880G>A (p.Glu1294Lys) c.3331G>A (p.Glu1111Lys) c.3004G>A (p.Glu1002Lys) c.2815G>A (p.Glu939Lys) n.577-2110C>T c.*3622-2110C>T (n.*3622-2110C>T) c.3718G>A (p.Glu1240Lys) c.2842G>A (p.Glu948Lys) c.2191G>A (p.Glu731Lys) c.1795G>A (p.Glu599Lys) c.1537G>A (p.Glu513Lys) | |
10 | g.75028704G>C | CA377292489 | DUSP29,KAT6B | c.3880G>C (p.Glu1294Gln) c.3331G>C (p.Glu1111Gln) c.3004G>C (p.Glu1002Gln) c.2815G>C (p.Glu939Gln) n.577-2110C>G c.*3622-2110C>G (n.*3622-2110C>G) c.3718G>C (p.Glu1240Gln) c.2842G>C (p.Glu948Gln) c.2191G>C (p.Glu731Gln) c.1795G>C (p.Glu599Gln) c.1537G>C (p.Glu513Gln) | |
10 | g.75028704G>T | CA377292491 | DUSP29,KAT6B | c.3880G>T (p.Glu1294Ter) c.3331G>T (p.Glu1111Ter) c.3004G>T (p.Glu1002Ter) c.2815G>T (p.Glu939Ter) n.577-2110C>A c.*3622-2110C>A (n.*3622-2110C>A) c.3718G>T (p.Glu1240Ter) c.2842G>T (p.Glu948Ter) c.2191G>T (p.Glu731Ter) c.1795G>T (p.Glu599Ter) c.1537G>T (p.Glu513Ter) | |
10 | g.75028705A>C | CA377292494 | DUSP29,KAT6B | c.3881A>C (p.Glu1294Ala) c.3332A>C (p.Glu1111Ala) c.3005A>C (p.Glu1002Ala) c.2816A>C (p.Glu939Ala) n.577-2111T>G c.*3622-2111T>G (n.*3622-2111T>G) c.3719A>C (p.Glu1240Ala) c.2843A>C (p.Glu948Ala) c.2192A>C (p.Glu731Ala) c.1796A>C (p.Glu599Ala) c.1538A>C (p.Glu513Ala) | |
10 | g.75028705A>G | CA377292495 | DUSP29,KAT6B | c.3881A>G (p.Glu1294Gly) c.3332A>G (p.Glu1111Gly) c.3005A>G (p.Glu1002Gly) c.2816A>G (p.Glu939Gly) n.577-2111T>C c.*3622-2111T>C (n.*3622-2111T>C) c.3719A>G (p.Glu1240Gly) c.2843A>G (p.Glu948Gly) c.2192A>G (p.Glu731Gly) c.1796A>G (p.Glu599Gly) c.1538A>G (p.Glu513Gly) | |
10 | g.75028705A>T | CA377292496 | DUSP29,KAT6B | c.3881A>T (p.Glu1294Val) c.3332A>T (p.Glu1111Val) c.3005A>T (p.Glu1002Val) c.2816A>T (p.Glu939Val) n.577-2111T>A c.*3622-2111T>A (n.*3622-2111T>A) c.3719A>T (p.Glu1240Val) c.2843A>T (p.Glu948Val) c.2192A>T (p.Glu731Val) c.1796A>T (p.Glu599Val) c.1538A>T (p.Glu513Val) | |
10 | g.75028706G>A | CA470299577 | DUSP29,KAT6B | c.3882G>A (p.Glu1294=) c.3333G>A (p.Glu1111=) c.3006G>A (p.Glu1002=) c.2817G>A (p.Glu939=) n.577-2112C>T c.*3622-2112C>T (n.*3622-2112C>T) c.3720G>A (p.Glu1240=) c.2844G>A (p.Glu948=) c.2193G>A (p.Glu731=) c.1797G>A (p.Glu599=) c.1539G>A (p.Glu513=) | |
10 | g.75028706G>C | CA377292497 | DUSP29,KAT6B | c.3882G>C (p.Glu1294Asp) c.3333G>C (p.Glu1111Asp) c.3006G>C (p.Glu1002Asp) c.2817G>C (p.Glu939Asp) n.577-2112C>G c.*3622-2112C>G (n.*3622-2112C>G) c.3720G>C (p.Glu1240Asp) c.2844G>C (p.Glu948Asp) c.2193G>C (p.Glu731Asp) c.1797G>C (p.Glu599Asp) c.1539G>C (p.Glu513Asp) | |
10 | g.75028706G>T | CA377292498 | DUSP29,KAT6B | c.3882G>T (p.Glu1294Asp) c.3333G>T (p.Glu1111Asp) c.3006G>T (p.Glu1002Asp) c.2817G>T (p.Glu939Asp) n.577-2112C>A c.*3622-2112C>A (n.*3622-2112C>A) c.3720G>T (p.Glu1240Asp) c.2844G>T (p.Glu948Asp) c.2193G>T (p.Glu731Asp) c.1797G>T (p.Glu599Asp) c.1539G>T (p.Glu513Asp) | |
10 | g.75028707A>C | CA377292499 | DUSP29,KAT6B | c.3883A>C (p.Thr1295Pro) c.3334A>C (p.Thr1112Pro) c.3007A>C (p.Thr1003Pro) c.2818A>C (p.Thr940Pro) n.577-2113T>G c.*3622-2113T>G (n.*3622-2113T>G) c.3721A>C (p.Thr1241Pro) c.2845A>C (p.Thr949Pro) c.2194A>C (p.Thr732Pro) c.1798A>C (p.Thr600Pro) c.1540A>C (p.Thr514Pro) | |
10 | g.75028707A>G | CA377292500 | DUSP29,KAT6B | c.3883A>G (p.Thr1295Ala) c.3334A>G (p.Thr1112Ala) c.3007A>G (p.Thr1003Ala) c.2818A>G (p.Thr940Ala) n.577-2113T>C c.*3622-2113T>C (n.*3622-2113T>C) c.3721A>G (p.Thr1241Ala) c.2845A>G (p.Thr949Ala) c.2194A>G (p.Thr732Ala) c.1798A>G (p.Thr600Ala) c.1540A>G (p.Thr514Ala) | |
10 | g.75028707A>T | CA377292501 | DUSP29,KAT6B | c.3883A>T (p.Thr1295Ser) c.3334A>T (p.Thr1112Ser) c.3007A>T (p.Thr1003Ser) c.2818A>T (p.Thr940Ser) n.577-2113T>A c.*3622-2113T>A (n.*3622-2113T>A) c.3721A>T (p.Thr1241Ser) c.2845A>T (p.Thr949Ser) c.2194A>T (p.Thr732Ser) c.1798A>T (p.Thr600Ser) c.1540A>T (p.Thr514Ser) | |
10 | g.75028708C>A | CA377292502 | DUSP29,KAT6B | c.3884C>A (p.Thr1295Asn) c.3335C>A (p.Thr1112Asn) c.3008C>A (p.Thr1003Asn) c.2819C>A (p.Thr940Asn) n.577-2114G>T c.*3622-2114G>T (n.*3622-2114G>T) c.3722C>A (p.Thr1241Asn) c.2846C>A (p.Thr949Asn) c.2195C>A (p.Thr732Asn) c.1799C>A (p.Thr600Asn) c.1541C>A (p.Thr514Asn) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.75028708C= | CA1920306432 | DUSP29,KAT6B | c.3884C= (p.Thr1295=) c.3335C= (p.Thr1112=) c.3008C= (p.Thr1003=) c.2819C= (p.Thr940=) n.577-2114G= c.*3622-2114G= (n.*3622-2114G=) c.3722C= (p.Thr1241=) c.2846C= (p.Thr949=) c.2195C= (p.Thr732=) c.1799C= (p.Thr600=) c.1541C= (p.Thr514=) | |
10 | g.75028708C>G | CA377292503 | DUSP29,KAT6B | c.3884C>G (p.Thr1295Ser) c.3335C>G (p.Thr1112Ser) c.3008C>G (p.Thr1003Ser) c.2819C>G (p.Thr940Ser) n.577-2114G>C c.*3622-2114G>C (n.*3622-2114G>C) c.3722C>G (p.Thr1241Ser) c.2846C>G (p.Thr949Ser) c.2195C>G (p.Thr732Ser) c.1799C>G (p.Thr600Ser) c.1541C>G (p.Thr514Ser) | |
10 | g.75028708C>T | CA377292504 | DUSP29,KAT6B | c.3884C>T (p.Thr1295Ile) c.3335C>T (p.Thr1112Ile) c.3008C>T (p.Thr1003Ile) c.2819C>T (p.Thr940Ile) n.577-2114G>A c.*3622-2114G>A (n.*3622-2114G>A) c.3722C>T (p.Thr1241Ile) c.2846C>T (p.Thr949Ile) c.2195C>T (p.Thr732Ile) c.1799C>T (p.Thr600Ile) c.1541C>T (p.Thr514Ile) | |
10 | g.75028709T>A | CA470299578 | DUSP29,KAT6B | c.3885T>A (p.Thr1295=) c.3336T>A (p.Thr1112=) c.3009T>A (p.Thr1003=) c.2820T>A (p.Thr940=) n.577-2115A>T c.*3622-2115A>T (n.*3622-2115A>T) c.3723T>A (p.Thr1241=) c.2847T>A (p.Thr949=) c.2196T>A (p.Thr732=) c.1800T>A (p.Thr600=) c.1542T>A (p.Thr514=) | |
10 | g.75028709T>C | CA470299579 | DUSP29,KAT6B | c.3885T>C (p.Thr1295=) c.3336T>C (p.Thr1112=) c.3009T>C (p.Thr1003=) c.2820T>C (p.Thr940=) n.577-2115A>G c.*3622-2115A>G (n.*3622-2115A>G) c.3723T>C (p.Thr1241=) c.2847T>C (p.Thr949=) c.2196T>C (p.Thr732=) c.1800T>C (p.Thr600=) c.1542T>C (p.Thr514=) | |
10 | g.75028709T>G | CA470299580 | DUSP29,KAT6B | c.3885T>G (p.Thr1295=) c.3336T>G (p.Thr1112=) c.3009T>G (p.Thr1003=) c.2820T>G (p.Thr940=) n.577-2115A>C c.*3622-2115A>C (n.*3622-2115A>C) c.3723T>G (p.Thr1241=) c.2847T>G (p.Thr949=) c.2196T>G (p.Thr732=) c.1800T>G (p.Thr600=) c.1542T>G (p.Thr514=) | |
10 | g.75028710T>A | CA377292505 | DUSP29,KAT6B | c.3886T>A (p.Ser1296Thr) c.3337T>A (p.Ser1113Thr) c.3010T>A (p.Ser1004Thr) c.2821T>A (p.Ser941Thr) n.577-2116A>T c.*3622-2116A>T (n.*3622-2116A>T) c.3724T>A (p.Ser1242Thr) c.2848T>A (p.Ser950Thr) c.2197T>A (p.Ser733Thr) c.1801T>A (p.Ser601Thr) c.1543T>A (p.Ser515Thr) | |
10 | g.75028710T>C | CA377292506 | DUSP29,KAT6B | c.3886T>C (p.Ser1296Pro) c.3337T>C (p.Ser1113Pro) c.3010T>C (p.Ser1004Pro) c.2821T>C (p.Ser941Pro) n.577-2116A>G c.*3622-2116A>G (n.*3622-2116A>G) c.3724T>C (p.Ser1242Pro) c.2848T>C (p.Ser950Pro) c.2197T>C (p.Ser733Pro) c.1801T>C (p.Ser601Pro) c.1543T>C (p.Ser515Pro) | |
10 | g.75028710T>G | CA377292507 | DUSP29,KAT6B | c.3886T>G (p.Ser1296Ala) c.3337T>G (p.Ser1113Ala) c.3010T>G (p.Ser1004Ala) c.2821T>G (p.Ser941Ala) n.577-2116A>C c.*3622-2116A>C (n.*3622-2116A>C) c.3724T>G (p.Ser1242Ala) c.2848T>G (p.Ser950Ala) c.2197T>G (p.Ser733Ala) c.1801T>G (p.Ser601Ala) c.1543T>G (p.Ser515Ala) | |
10 | g.75028711C>A | CA377292508 | DUSP29,KAT6B | c.3887C>A (p.Ser1296Ter) c.3338C>A (p.Ser1113Ter) c.3011C>A (p.Ser1004Ter) c.2822C>A (p.Ser941Ter) n.577-2117G>T c.*3622-2117G>T (n.*3622-2117G>T) c.3725C>A (p.Ser1242Ter) c.2849C>A (p.Ser950Ter) c.2198C>A (p.Ser733Ter) c.1802C>A (p.Ser601Ter) c.1544C>A (p.Ser515Ter) | |
10 | g.75028711C>G | CA377292509 | DUSP29,KAT6B | c.3887C>G (p.Ser1296Ter) c.3338C>G (p.Ser1113Ter) c.3011C>G (p.Ser1004Ter) c.2822C>G (p.Ser941Ter) n.577-2117G>C c.*3622-2117G>C (n.*3622-2117G>C) c.3725C>G (p.Ser1242Ter) c.2849C>G (p.Ser950Ter) c.2198C>G (p.Ser733Ter) c.1802C>G (p.Ser601Ter) c.1544C>G (p.Ser515Ter) | |
10 | g.75028711C>T | CA377292510 | DUSP29,KAT6B | c.3887C>T (p.Ser1296Leu) c.3338C>T (p.Ser1113Leu) c.3011C>T (p.Ser1004Leu) c.2822C>T (p.Ser941Leu) n.577-2117G>A c.*3622-2117G>A (n.*3622-2117G>A) c.3725C>T (p.Ser1242Leu) c.2849C>T (p.Ser950Leu) c.2198C>T (p.Ser733Leu) c.1802C>T (p.Ser601Leu) c.1544C>T (p.Ser515Leu) | |
10 | g.75028712A>C | CA470299581 | DUSP29,KAT6B | c.3888A>C (p.Ser1296=) c.3339A>C (p.Ser1113=) c.3012A>C (p.Ser1004=) c.2823A>C (p.Ser941=) n.577-2118T>G c.*3622-2118T>G (n.*3622-2118T>G) c.3726A>C (p.Ser1242=) c.2850A>C (p.Ser950=) c.2199A>C (p.Ser733=) c.1803A>C (p.Ser601=) c.1545A>C (p.Ser515=) | |
10 | g.75028712A>G | CA470299582 | DUSP29,KAT6B | c.3888A>G (p.Ser1296=) c.3339A>G (p.Ser1113=) c.3012A>G (p.Ser1004=) c.2823A>G (p.Ser941=) n.577-2118T>C c.*3622-2118T>C (n.*3622-2118T>C) c.3726A>G (p.Ser1242=) c.2850A>G (p.Ser950=) c.2199A>G (p.Ser733=) c.1803A>G (p.Ser601=) c.1545A>G (p.Ser515=) | gnomAD v4 |
10 | g.75028712A>T | CA470299583 | DUSP29,KAT6B | c.3888A>T (p.Ser1296=) c.3339A>T (p.Ser1113=) c.3012A>T (p.Ser1004=) c.2823A>T (p.Ser941=) n.577-2118T>A c.*3622-2118T>A (n.*3622-2118T>A) c.3726A>T (p.Ser1242=) c.2850A>T (p.Ser950=) c.2199A>T (p.Ser733=) c.1803A>T (p.Ser601=) c.1545A>T (p.Ser515=) | |
10 | g.75028713G>A | CA377292511 | DUSP29,KAT6B | c.3889G>A (p.Glu1297Lys) c.3340G>A (p.Glu1114Lys) c.3013G>A (p.Glu1005Lys) c.2824G>A (p.Glu942Lys) n.577-2119C>T c.*3622-2119C>T (n.*3622-2119C>T) c.3727G>A (p.Glu1243Lys) c.2851G>A (p.Glu951Lys) c.2200G>A (p.Glu734Lys) c.1804G>A (p.Glu602Lys) c.1546G>A (p.Glu516Lys) | |
10 | g.75028713G>C | CA377292513 | DUSP29,KAT6B | c.3889G>C (p.Glu1297Gln) c.3340G>C (p.Glu1114Gln) c.3013G>C (p.Glu1005Gln) c.2824G>C (p.Glu942Gln) n.577-2119C>G c.*3622-2119C>G (n.*3622-2119C>G) c.3727G>C (p.Glu1243Gln) c.2851G>C (p.Glu951Gln) c.2200G>C (p.Glu734Gln) c.1804G>C (p.Glu602Gln) c.1546G>C (p.Glu516Gln) | |
10 | g.75028713G>T | CA377292512 | DUSP29,KAT6B | c.3889G>T (p.Glu1297Ter) c.3340G>T (p.Glu1114Ter) c.3013G>T (p.Glu1005Ter) c.2824G>T (p.Glu942Ter) n.577-2119C>A c.*3622-2119C>A (n.*3622-2119C>A) c.3727G>T (p.Glu1243Ter) c.2851G>T (p.Glu951Ter) c.2200G>T (p.Glu734Ter) c.1804G>T (p.Glu602Ter) c.1546G>T (p.Glu516Ter) | |
10 | g.75028714A>C | CA377292514 | DUSP29,KAT6B | c.3890A>C (p.Glu1297Ala) c.3341A>C (p.Glu1114Ala) c.3014A>C (p.Glu1005Ala) c.2825A>C (p.Glu942Ala) n.577-2120T>G c.*3622-2120T>G (n.*3622-2120T>G) c.3728A>C (p.Glu1243Ala) c.2852A>C (p.Glu951Ala) c.2201A>C (p.Glu734Ala) c.1805A>C (p.Glu602Ala) c.1547A>C (p.Glu516Ala) | |
10 | g.75028714A>G | CA377292516 | DUSP29,KAT6B | c.3890A>G (p.Glu1297Gly) c.3341A>G (p.Glu1114Gly) c.3014A>G (p.Glu1005Gly) c.2825A>G (p.Glu942Gly) n.577-2120T>C c.*3622-2120T>C (n.*3622-2120T>C) c.3728A>G (p.Glu1243Gly) c.2852A>G (p.Glu951Gly) c.2201A>G (p.Glu734Gly) c.1805A>G (p.Glu602Gly) c.1547A>G (p.Glu516Gly) | |
10 | g.75028714A>T | CA377292515 | DUSP29,KAT6B | c.3890A>T (p.Glu1297Val) c.3341A>T (p.Glu1114Val) c.3014A>T (p.Glu1005Val) c.2825A>T (p.Glu942Val) n.577-2120T>A c.*3622-2120T>A (n.*3622-2120T>A) c.3728A>T (p.Glu1243Val) c.2852A>T (p.Glu951Val) c.2201A>T (p.Glu734Val) c.1805A>T (p.Glu602Val) c.1547A>T (p.Glu516Val) | |
10 | g.75028715A>C | CA377292517 | DUSP29,KAT6B | c.3891A>C (p.Glu1297Asp) c.3342A>C (p.Glu1114Asp) c.3015A>C (p.Glu1005Asp) c.2826A>C (p.Glu942Asp) n.577-2121T>G c.*3622-2121T>G (n.*3622-2121T>G) c.3729A>C (p.Glu1243Asp) c.2853A>C (p.Glu951Asp) c.2202A>C (p.Glu734Asp) c.1806A>C (p.Glu602Asp) c.1548A>C (p.Glu516Asp) | |
10 | g.75028715A>G | CA470299585 | DUSP29,KAT6B | c.3891A>G (p.Glu1297=) c.3342A>G (p.Glu1114=) c.3015A>G (p.Glu1005=) c.2826A>G (p.Glu942=) n.577-2121T>C c.*3622-2121T>C (n.*3622-2121T>C) c.3729A>G (p.Glu1243=) c.2853A>G (p.Glu951=) c.2202A>G (p.Glu734=) c.1806A>G (p.Glu602=) c.1548A>G (p.Glu516=) | |
10 | g.75028715A>T | CA377292518 | DUSP29,KAT6B | c.3891A>T (p.Glu1297Asp) c.3342A>T (p.Glu1114Asp) c.3015A>T (p.Glu1005Asp) c.2826A>T (p.Glu942Asp) n.577-2121T>A c.*3622-2121T>A (n.*3622-2121T>A) c.3729A>T (p.Glu1243Asp) c.2853A>T (p.Glu951Asp) c.2202A>T (p.Glu734Asp) c.1806A>T (p.Glu602Asp) c.1548A>T (p.Glu516Asp) | |
10 | g.75028716G>A | CA377292519 | DUSP29,KAT6B | c.3892G>A (p.Gly1298Arg) c.3343G>A (p.Gly1115Arg) c.3016G>A (p.Gly1006Arg) c.2827G>A (p.Gly943Arg) n.577-2122C>T c.*3622-2122C>T (n.*3622-2122C>T) c.3730G>A (p.Gly1244Arg) c.2854G>A (p.Gly952Arg) c.2203G>A (p.Gly735Arg) c.1807G>A (p.Gly603Arg) c.1549G>A (p.Gly517Arg) | gnomAD v4 |
10 | g.75028716G>C | CA377292520 | DUSP29,KAT6B | c.3892G>C (p.Gly1298Arg) c.3343G>C (p.Gly1115Arg) c.3016G>C (p.Gly1006Arg) c.2827G>C (p.Gly943Arg) n.577-2122C>G c.*3622-2122C>G (n.*3622-2122C>G) c.3730G>C (p.Gly1244Arg) c.2854G>C (p.Gly952Arg) c.2203G>C (p.Gly735Arg) c.1807G>C (p.Gly603Arg) c.1549G>C (p.Gly517Arg) | |
10 | g.75028716G= | CA1920306433 | DUSP29,KAT6B | c.3892G= (p.Gly1298=) c.3343G= (p.Gly1115=) c.3016G= (p.Gly1006=) c.2827G= (p.Gly943=) n.577-2122C= c.*3622-2122C= (n.*3622-2122C=) c.3730G= (p.Gly1244=) c.2854G= (p.Gly952=) c.2203G= (p.Gly735=) c.1807G= (p.Gly603=) c.1549G= (p.Gly517=) | |
10 | g.75028716G>T | CA129316 | DUSP29,KAT6B | c.3892G>T (p.Gly1298Ter) c.3343G>T (p.Gly1115Ter) c.3016G>T (p.Gly1006Ter) c.2827G>T (p.Gly943Ter) n.577-2122C>A c.*3622-2122C>A (n.*3622-2122C>A) c.3730G>T (p.Gly1244Ter) c.2854G>T (p.Gly952Ter) c.2203G>T (p.Gly735Ter) c.1807G>T (p.Gly603Ter) c.1549G>T (p.Gly517Ter) | ClinVar dbSNP |
10 | g.75028717G>A | CA377292521 | DUSP29,KAT6B | c.3893G>A (p.Gly1298Glu) c.3344G>A (p.Gly1115Glu) c.3017G>A (p.Gly1006Glu) c.2828G>A (p.Gly943Glu) n.577-2123C>T c.*3622-2123C>T (n.*3622-2123C>T) c.3731G>A (p.Gly1244Glu) c.2855G>A (p.Gly952Glu) c.2204G>A (p.Gly735Glu) c.1808G>A (p.Gly603Glu) c.1550G>A (p.Gly517Glu) | |
10 | g.75028717G>C | CA377292522 | DUSP29,KAT6B | c.3893G>C (p.Gly1298Ala) c.3344G>C (p.Gly1115Ala) c.3017G>C (p.Gly1006Ala) c.2828G>C (p.Gly943Ala) n.577-2123C>G c.*3622-2123C>G (n.*3622-2123C>G) c.3731G>C (p.Gly1244Ala) c.2855G>C (p.Gly952Ala) c.2204G>C (p.Gly735Ala) c.1808G>C (p.Gly603Ala) c.1550G>C (p.Gly517Ala) | |
10 | g.75028717G>T | CA377292523 | DUSP29,KAT6B | c.3893G>T (p.Gly1298Val) c.3344G>T (p.Gly1115Val) c.3017G>T (p.Gly1006Val) c.2828G>T (p.Gly943Val) n.577-2123C>A c.*3622-2123C>A (n.*3622-2123C>A) c.3731G>T (p.Gly1244Val) c.2855G>T (p.Gly952Val) c.2204G>T (p.Gly735Val) c.1808G>T (p.Gly603Val) c.1550G>T (p.Gly517Val) | |
10 | g.75028718A= | CA1920306434 | DUSP29,KAT6B | c.3894A= (p.Gly1298=) c.3345A= (p.Gly1115=) c.3018A= (p.Gly1006=) c.2829A= (p.Gly943=) n.577-2124T= c.*3622-2124T= (n.*3622-2124T=) c.3732A= (p.Gly1244=) c.2856A= (p.Gly952=) c.2205A= (p.Gly735=) c.1809A= (p.Gly603=) c.1551A= (p.Gly517=) | |
10 | g.75028718A>C | CA470299586 | DUSP29,KAT6B | c.3894A>C (p.Gly1298=) c.3345A>C (p.Gly1115=) c.3018A>C (p.Gly1006=) c.2829A>C (p.Gly943=) n.577-2124T>G c.*3622-2124T>G (n.*3622-2124T>G) c.3732A>C (p.Gly1244=) c.2856A>C (p.Gly952=) c.2205A>C (p.Gly735=) c.1809A>C (p.Gly603=) c.1551A>C (p.Gly517=) | |
10 | g.75028718A>G | CA5564919 | DUSP29,KAT6B | c.3894A>G (p.Gly1298=) c.3345A>G (p.Gly1115=) c.3018A>G (p.Gly1006=) c.2829A>G (p.Gly943=) n.577-2124T>C c.*3622-2124T>C (n.*3622-2124T>C) c.3732A>G (p.Gly1244=) c.2856A>G (p.Gly952=) c.2205A>G (p.Gly735=) c.1809A>G (p.Gly603=) c.1551A>G (p.Gly517=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.75028718A>T | CA470299587 | DUSP29,KAT6B | c.3894A>T (p.Gly1298=) c.3345A>T (p.Gly1115=) c.3018A>T (p.Gly1006=) c.2829A>T (p.Gly943=) n.577-2124T>A c.*3622-2124T>A (n.*3622-2124T>A) c.3732A>T (p.Gly1244=) c.2856A>T (p.Gly952=) c.2205A>T (p.Gly735=) c.1809A>T (p.Gly603=) c.1551A>T (p.Gly517=) | |
10 | g.75028722dup | CA658761662 | DUSP29,KAT6B | c.3898dup (p.Thr1300AsnfsTer9) c.3349dup (p.Thr1117AsnfsTer9) c.3022dup (p.Thr1008AsnfsTer9) c.2833dup (p.Thr945AsnfsTer9) n.577-2124dup c.*3622-2124dup (n.*3622-2124dup) c.3736dup (p.Thr1246AsnfsTer9) c.2860dup (p.Thr954AsnfsTer9) c.2209dup (p.Thr737AsnfsTer9) c.1813dup (p.Thr605AsnfsTer9) c.1555dup (p.Thr519AsnfsTer9) | |
10 | g.75028719A>C | CA377292524 | DUSP29,KAT6B | c.3895A>C (p.Lys1299Gln) c.3346A>C (p.Lys1116Gln) c.3019A>C (p.Lys1007Gln) c.2830A>C (p.Lys944Gln) n.577-2125T>G c.*3622-2125T>G (n.*3622-2125T>G) c.3733A>C (p.Lys1245Gln) c.2857A>C (p.Lys953Gln) c.2206A>C (p.Lys736Gln) c.1810A>C (p.Lys604Gln) c.1552A>C (p.Lys518Gln) | |
10 | g.75028719A>G | CA377292525 | DUSP29,KAT6B | c.3895A>G (p.Lys1299Glu) c.3346A>G (p.Lys1116Glu) c.3019A>G (p.Lys1007Glu) c.2830A>G (p.Lys944Glu) n.577-2125T>C c.*3622-2125T>C (n.*3622-2125T>C) c.3733A>G (p.Lys1245Glu) c.2857A>G (p.Lys953Glu) c.2206A>G (p.Lys736Glu) c.1810A>G (p.Lys604Glu) c.1552A>G (p.Lys518Glu) | |
10 | g.75028719A>T | CA377292526 | DUSP29,KAT6B | c.3895A>T (p.Lys1299Ter) c.3346A>T (p.Lys1116Ter) c.3019A>T (p.Lys1007Ter) c.2830A>T (p.Lys944Ter) n.577-2125T>A c.*3622-2125T>A (n.*3622-2125T>A) c.3733A>T (p.Lys1245Ter) c.2857A>T (p.Lys953Ter) c.2206A>T (p.Lys736Ter) c.1810A>T (p.Lys604Ter) c.1552A>T (p.Lys518Ter) | |
10 | g.75028720A= | CA1920306435 | DUSP29,KAT6B | c.3896A= (p.Lys1299=) c.3347A= (p.Lys1116=) c.3020A= (p.Lys1007=) c.2831A= (p.Lys944=) n.577-2126T= c.*3622-2126T= (n.*3622-2126T=) c.3734A= (p.Lys1245=) c.2858A= (p.Lys953=) c.2207A= (p.Lys736=) c.1811A= (p.Lys604=) c.1553A= (p.Lys518=) | |
10 | g.75028720A>C | CA377292527 | DUSP29,KAT6B | c.3896A>C (p.Lys1299Thr) c.3347A>C (p.Lys1116Thr) c.3020A>C (p.Lys1007Thr) c.2831A>C (p.Lys944Thr) n.577-2126T>G c.*3622-2126T>G (n.*3622-2126T>G) c.3734A>C (p.Lys1245Thr) c.2858A>C (p.Lys953Thr) c.2207A>C (p.Lys736Thr) c.1811A>C (p.Lys604Thr) c.1553A>C (p.Lys518Thr) | dbSNP |
10 | g.75028720A>G | CA377292529 | DUSP29,KAT6B | c.3896A>G (p.Lys1299Arg) c.3347A>G (p.Lys1116Arg) c.3020A>G (p.Lys1007Arg) c.2831A>G (p.Lys944Arg) n.577-2126T>C c.*3622-2126T>C (n.*3622-2126T>C) c.3734A>G (p.Lys1245Arg) c.2858A>G (p.Lys953Arg) c.2207A>G (p.Lys736Arg) c.1811A>G (p.Lys604Arg) c.1553A>G (p.Lys518Arg) | gnomAD v4 |
10 | g.75028720A>T | CA377292528 | DUSP29,KAT6B | c.3896A>T (p.Lys1299Ile) c.3347A>T (p.Lys1116Ile) c.3020A>T (p.Lys1007Ile) c.2831A>T (p.Lys944Ile) n.577-2126T>A c.*3622-2126T>A (n.*3622-2126T>A) c.3734A>T (p.Lys1245Ile) c.2858A>T (p.Lys953Ile) c.2207A>T (p.Lys736Ile) c.1811A>T (p.Lys604Ile) c.1553A>T (p.Lys518Ile) | |
10 | g.75028721A>C | CA377292530 | DUSP29,KAT6B | c.3897A>C (p.Lys1299Asn) c.3348A>C (p.Lys1116Asn) c.3021A>C (p.Lys1007Asn) c.2832A>C (p.Lys944Asn) n.577-2127T>G c.*3622-2127T>G (n.*3622-2127T>G) c.3735A>C (p.Lys1245Asn) c.2859A>C (p.Lys953Asn) c.2208A>C (p.Lys736Asn) c.1812A>C (p.Lys604Asn) c.1554A>C (p.Lys518Asn) | |
10 | g.75028721A>G | CA470299589 | DUSP29,KAT6B | c.3897A>G (p.Lys1299=) c.3348A>G (p.Lys1116=) c.3021A>G (p.Lys1007=) c.2832A>G (p.Lys944=) n.577-2127T>C c.*3622-2127T>C (n.*3622-2127T>C) c.3735A>G (p.Lys1245=) c.2859A>G (p.Lys953=) c.2208A>G (p.Lys736=) c.1812A>G (p.Lys604=) c.1554A>G (p.Lys518=) | |
10 | g.75028721A>T | CA377292531 | DUSP29,KAT6B | c.3897A>T (p.Lys1299Asn) c.3348A>T (p.Lys1116Asn) c.3021A>T (p.Lys1007Asn) c.2832A>T (p.Lys944Asn) n.577-2127T>A c.*3622-2127T>A (n.*3622-2127T>A) c.3735A>T (p.Lys1245Asn) c.2859A>T (p.Lys953Asn) c.2208A>T (p.Lys736Asn) c.1812A>T (p.Lys604Asn) c.1554A>T (p.Lys518Asn) | |
10 | g.75028722A= | CA1920306436 | DUSP29,KAT6B | c.3898A= (p.Thr1300=) c.3349A= (p.Thr1117=) c.3022A= (p.Thr1008=) c.2833A= (p.Thr945=) n.577-2128T= c.*3622-2128T= (n.*3622-2128T=) c.3736A= (p.Thr1246=) c.2860A= (p.Thr954=) c.2209A= (p.Thr737=) c.1813A= (p.Thr605=) c.1555A= (p.Thr519=) | |
10 | g.75028722A>C | CA377292532 | DUSP29,KAT6B | c.3898A>C (p.Thr1300Pro) c.3349A>C (p.Thr1117Pro) c.3022A>C (p.Thr1008Pro) c.2833A>C (p.Thr945Pro) n.577-2128T>G c.*3622-2128T>G (n.*3622-2128T>G) c.3736A>C (p.Thr1246Pro) c.2860A>C (p.Thr954Pro) c.2209A>C (p.Thr737Pro) c.1813A>C (p.Thr605Pro) c.1555A>C (p.Thr519Pro) | |
10 | g.75028722A>G | CA377292533 | DUSP29,KAT6B | c.3898A>G (p.Thr1300Ala) c.3349A>G (p.Thr1117Ala) c.3022A>G (p.Thr1008Ala) c.2833A>G (p.Thr945Ala) n.577-2128T>C c.*3622-2128T>C (n.*3622-2128T>C) c.3736A>G (p.Thr1246Ala) c.2860A>G (p.Thr954Ala) c.2209A>G (p.Thr737Ala) c.1813A>G (p.Thr605Ala) c.1555A>G (p.Thr519Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.75028722A>T | CA377292534 | DUSP29,KAT6B | c.3898A>T (p.Thr1300Ser) c.3349A>T (p.Thr1117Ser) c.3022A>T (p.Thr1008Ser) c.2833A>T (p.Thr945Ser) n.577-2128T>A c.*3622-2128T>A (n.*3622-2128T>A) c.3736A>T (p.Thr1246Ser) c.2860A>T (p.Thr954Ser) c.2209A>T (p.Thr737Ser) c.1813A>T (p.Thr605Ser) c.1555A>T (p.Thr519Ser) | |
10 | g.75028723C>A | CA377292535 | DUSP29,KAT6B | c.3899C>A (p.Thr1300Asn) c.3350C>A (p.Thr1117Asn) c.3023C>A (p.Thr1008Asn) c.2834C>A (p.Thr945Asn) n.577-2129G>T c.*3622-2129G>T (n.*3622-2129G>T) c.3737C>A (p.Thr1246Asn) c.2861C>A (p.Thr954Asn) c.2210C>A (p.Thr737Asn) c.1814C>A (p.Thr605Asn) c.1556C>A (p.Thr519Asn) | |
10 | g.75028723C= | CA1920306437 | DUSP29,KAT6B | c.3899C= (p.Thr1300=) c.3350C= (p.Thr1117=) c.3023C= (p.Thr1008=) c.2834C= (p.Thr945=) n.577-2129G= c.*3622-2129G= (n.*3622-2129G=) c.3737C= (p.Thr1246=) c.2861C= (p.Thr954=) c.2210C= (p.Thr737=) c.1814C= (p.Thr605=) c.1556C= (p.Thr519=) | |
10 | g.75028723C>G | CA377292536 | DUSP29,KAT6B | c.3899C>G (p.Thr1300Ser) c.3350C>G (p.Thr1117Ser) c.3023C>G (p.Thr1008Ser) c.2834C>G (p.Thr945Ser) n.577-2129G>C c.*3622-2129G>C (n.*3622-2129G>C) c.3737C>G (p.Thr1246Ser) c.2861C>G (p.Thr954Ser) c.2210C>G (p.Thr737Ser) c.1814C>G (p.Thr605Ser) c.1556C>G (p.Thr519Ser) | |
10 | g.75028723C>T | CA377292537 | DUSP29,KAT6B | c.3899C>T (p.Thr1300Ile) c.3350C>T (p.Thr1117Ile) c.3023C>T (p.Thr1008Ile) c.2834C>T (p.Thr945Ile) n.577-2129G>A c.*3622-2129G>A (n.*3622-2129G>A) c.3737C>T (p.Thr1246Ile) c.2861C>T (p.Thr954Ile) c.2210C>T (p.Thr737Ile) c.1814C>T (p.Thr605Ile) c.1556C>T (p.Thr519Ile) | dbSNP gnomAD v4 |
10 | g.75028724C>A | CA470299592 | DUSP29,KAT6B | c.3900C>A (p.Thr1300=) c.3351C>A (p.Thr1117=) c.3024C>A (p.Thr1008=) c.2835C>A (p.Thr945=) n.577-2130G>T c.*3622-2130G>T (n.*3622-2130G>T) c.3738C>A (p.Thr1246=) c.2862C>A (p.Thr954=) c.2211C>A (p.Thr737=) c.1815C>A (p.Thr605=) c.1557C>A (p.Thr519=) | |
10 | g.75028724C= | CA1920306438 | DUSP29,KAT6B | c.3900C= (p.Thr1300=) c.3351C= (p.Thr1117=) c.3024C= (p.Thr1008=) c.2835C= (p.Thr945=) n.577-2130G= c.*3622-2130G= (n.*3622-2130G=) c.3738C= (p.Thr1246=) c.2862C= (p.Thr954=) c.2211C= (p.Thr737=) c.1815C= (p.Thr605=) c.1557C= (p.Thr519=) | |
10 | g.75028724C>G | CA5564920 | DUSP29,KAT6B | c.3900C>G (p.Thr1300=) c.3351C>G (p.Thr1117=) c.3024C>G (p.Thr1008=) c.2835C>G (p.Thr945=) n.577-2130G>C c.*3622-2130G>C (n.*3622-2130G>C) c.3738C>G (p.Thr1246=) c.2862C>G (p.Thr954=) c.2211C>G (p.Thr737=) c.1815C>G (p.Thr605=) c.1557C>G (p.Thr519=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
10 | g.75028724C>T | CA209709212 | DUSP29,KAT6B | c.3900C>T (p.Thr1300=) c.3351C>T (p.Thr1117=) c.3024C>T (p.Thr1008=) c.2835C>T (p.Thr945=) n.577-2130G>A c.*3622-2130G>A (n.*3622-2130G>A) c.3738C>T (p.Thr1246=) c.2862C>T (p.Thr954=) c.2211C>T (p.Thr737=) c.1815C>T (p.Thr605=) c.1557C>T (p.Thr519=) | dbSNP gnomAD v4 |
10 | g.75028725A>C | CA377292539 | DUSP29,KAT6B | c.3901A>C (p.Ser1301Arg) c.3352A>C (p.Ser1118Arg) c.3025A>C (p.Ser1009Arg) c.2836A>C (p.Ser946Arg) n.577-2131T>G c.*3622-2131T>G (n.*3622-2131T>G) c.3739A>C (p.Ser1247Arg) c.2863A>C (p.Ser955Arg) c.2212A>C (p.Ser738Arg) c.1816A>C (p.Ser606Arg) c.1558A>C (p.Ser520Arg) | |
10 | g.75028725A>G | CA377292540 | DUSP29,KAT6B | c.3901A>G (p.Ser1301Gly) c.3352A>G (p.Ser1118Gly) c.3025A>G (p.Ser1009Gly) c.2836A>G (p.Ser946Gly) n.577-2131T>C c.*3622-2131T>C (n.*3622-2131T>C) c.3739A>G (p.Ser1247Gly) c.2863A>G (p.Ser955Gly) c.2212A>G (p.Ser738Gly) c.1816A>G (p.Ser606Gly) c.1558A>G (p.Ser520Gly) | |
10 | g.75028725A>T | CA377292538 | DUSP29,KAT6B | c.3901A>T (p.Ser1301Cys) c.3352A>T (p.Ser1118Cys) c.3025A>T (p.Ser1009Cys) c.2836A>T (p.Ser946Cys) n.577-2131T>A c.*3622-2131T>A (n.*3622-2131T>A) c.3739A>T (p.Ser1247Cys) c.2863A>T (p.Ser955Cys) c.2212A>T (p.Ser738Cys) c.1816A>T (p.Ser606Cys) c.1558A>T (p.Ser520Cys) | |
10 | g.75028726G>A | CA377292541 | DUSP29,KAT6B | c.3902G>A (p.Ser1301Asn) c.3353G>A (p.Ser1118Asn) c.3026G>A (p.Ser1009Asn) c.2837G>A (p.Ser946Asn) n.577-2132C>T c.*3622-2132C>T (n.*3622-2132C>T) c.3740G>A (p.Ser1247Asn) c.2864G>A (p.Ser955Asn) c.2213G>A (p.Ser738Asn) c.1817G>A (p.Ser606Asn) c.1559G>A (p.Ser520Asn) | |
10 | g.75028726G>C | CA377292542 | DUSP29,KAT6B | c.3902G>C (p.Ser1301Thr) c.3353G>C (p.Ser1118Thr) c.3026G>C (p.Ser1009Thr) c.2837G>C (p.Ser946Thr) n.577-2132C>G c.*3622-2132C>G (n.*3622-2132C>G) c.3740G>C (p.Ser1247Thr) c.2864G>C (p.Ser955Thr) c.2213G>C (p.Ser738Thr) c.1817G>C (p.Ser606Thr) c.1559G>C (p.Ser520Thr) | |
10 | g.75028726G>T | CA377292543 | DUSP29,KAT6B | c.3902G>T (p.Ser1301Ile) c.3353G>T (p.Ser1118Ile) c.3026G>T (p.Ser1009Ile) c.2837G>T (p.Ser946Ile) n.577-2132C>A c.*3622-2132C>A (n.*3622-2132C>A) c.3740G>T (p.Ser1247Ile) c.2864G>T (p.Ser955Ile) c.2213G>T (p.Ser738Ile) c.1817G>T (p.Ser606Ile) c.1559G>T (p.Ser520Ile) | |
10 | g.75028726_75028729del | CA2566138389 | DUSP29,KAT6B | c.3902_3905del (p.Ser1301ThrfsTer?) c.3353_3356del (p.Ser1118ThrfsTer?) c.3026_3029del (p.Ser1009ThrfsTer?) c.2837_2840del (p.Ser946ThrfsTer?) n.577-2135_577-2132del c.*3622-2135_*3622-2132del (n.*3622-2135_*3622-2132del) c.3740_3743del (p.Ser1247ThrfsTer?) c.2864_2867del (p.Ser955ThrfsTer?) c.2213_2216del (p.Ser738ThrfsTer?) c.1817_1820del (p.Ser606ThrfsTer?) c.1559_1562del (p.Ser520ThrfsTer?) | |
10 | g.75028726_75028727insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT | CA2609745697 | DUSP29,KAT6B | c.3902_3903insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1301ArgfsTer5) c.3353_3354insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1118ArgfsTer5) c.3026_3027insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1009ArgfsTer5) c.2837_2838insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser946ArgfsTer5) n.577-2133_577-2132insACATAATCAAGGCTAATGTGTAATAATATTGTGTTATAAACCAAGT c.*3622-2133_*3622-2132insACATAATCAAGGCTAATGTGTAATAATATTGTGTTATAAACCAAGT (n.*3622-2133_*3622-2132insACATAATCAAGGCTAATGTGTAATAATATTGTGTTATAAACCAAGT) c.3740_3741insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser1247ArgfsTer5) c.2864_2865insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser955ArgfsTer5) c.2213_2214insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser738ArgfsTer5) c.1817_1818insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser606ArgfsTer5) c.1559_1560insACTTGGTTTATAACACAATATTATTACACATTAGCCTTGATTATGT (p.Ser520ArgfsTer5) | gnomAD v4 |
10 | g.75028727C>A | CA377292544 | DUSP29,KAT6B | c.3903C>A (p.Ser1301Arg) c.3354C>A (p.Ser1118Arg) c.3027C>A (p.Ser1009Arg) c.2838C>A (p.Ser946Arg) n.577-2133G>T c.*3622-2133G>T (n.*3622-2133G>T) c.3741C>A (p.Ser1247Arg) c.2865C>A (p.Ser955Arg) c.2214C>A (p.Ser738Arg) c.1818C>A (p.Ser606Arg) c.1560C>A (p.Ser520Arg) | |
10 | g.75028727C>G | CA377292545 | DUSP29,KAT6B | c.3903C>G (p.Ser1301Arg) c.3354C>G (p.Ser1118Arg) c.3027C>G (p.Ser1009Arg) c.2838C>G (p.Ser946Arg) n.577-2133G>C c.*3622-2133G>C (n.*3622-2133G>C) c.3741C>G (p.Ser1247Arg) c.2865C>G (p.Ser955Arg) c.2214C>G (p.Ser738Arg) c.1818C>G (p.Ser606Arg) c.1560C>G (p.Ser520Arg) | |
10 | g.75028727C>T | CA470299596 | DUSP29,KAT6B | c.3903C>T (p.Ser1301=) c.3354C>T (p.Ser1118=) c.3027C>T (p.Ser1009=) c.2838C>T (p.Ser946=) n.577-2133G>A c.*3622-2133G>A (n.*3622-2133G>A) c.3741C>T (p.Ser1247=) c.2865C>T (p.Ser955=) c.2214C>T (p.Ser738=) c.1818C>T (p.Ser606=) c.1560C>T (p.Ser520=) | gnomAD v4 |
10 | g.75028730del | CA2499220380 | DUSP29,KAT6B | c.3906del (p.Ser1303ValfsTer?) c.3357del (p.Ser1120ValfsTer?) c.3030del (p.Ser1011ValfsTer?) c.2841del (p.Ser948ValfsTer?) n.577-2133del c.*3622-2133del (n.*3622-2133del) c.3744del (p.Ser1249ValfsTer?) c.2868del (p.Ser957ValfsTer?) c.2217del (p.Ser740ValfsTer?) c.1821del (p.Ser608ValfsTer?) c.1563del (p.Ser522ValfsTer?) | ClinVar dbSNP |