Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.75028684_75028687delCA2695212198DUSP29,KAT6Bc.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?)
10g.75028686A>CCA377292377DUSP29,KAT6Bc.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)
10g.75028686A>GCA377292384DUSP29,KAT6Bc.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)
10g.75028686A>TCA377292380DUSP29,KAT6Bc.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)
10g.75028687C>ACA377292388DUSP29,KAT6Bc.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
10g.75028687C>GCA377292392DUSP29,KAT6Bc.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)
10g.75028687C>TCA377292390DUSP29,KAT6Bc.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
10g.75028688A>CCA470299567DUSP29,KAT6Bc.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=)
10g.75028688A>GCA470299568DUSP29,KAT6Bc.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=)
10g.75028688A>TCA470299569DUSP29,KAT6Bc.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
10g.75028689G>ACA377292397DUSP29,KAT6Bc.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
10g.75028689G>CCA377292399DUSP29,KAT6Bc.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)
10g.75028689G>TCA377292401DUSP29,KAT6Bc.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)
10g.75028690T>ACA377292403DUSP29,KAT6Bc.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)
10g.75028690T>CCA377292407DUSP29,KAT6Bc.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)
10g.75028690T>GCA377292409DUSP29,KAT6Bc.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)
10g.75028691G>ACA470299570DUSP29,KAT6Bc.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
10g.75028691G>CCA470299571DUSP29,KAT6Bc.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=)
10g.75028691G>TCA470299572DUSP29,KAT6Bc.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=)
10g.75028692G>ACA377292420DUSP29,KAT6Bc.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)
10g.75028692G>CCA377292414DUSP29,KAT6Bc.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)
10g.75028692G>TCA377292417DUSP29,KAT6Bc.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)
10g.75028693A>CCA377292424DUSP29,KAT6Bc.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)
10g.75028693A>GCA377292426DUSP29,KAT6Bc.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)
10g.75028693A>TCA377292431DUSP29,KAT6Bc.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)
10g.75028694A>CCA377292435DUSP29,KAT6Bc.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)
10g.75028694A>GCA470299573DUSP29,KAT6Bc.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=)
10g.75028694A>TCA377292437DUSP29,KAT6Bc.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)
10g.75028695G>ACA377292440DUSP29,KAT6Bc.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)
10g.75028695G>CCA377292447DUSP29,KAT6Bc.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)
10g.75028695G>TCA377292445DUSP29,KAT6Bc.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)
10g.75028696A>CCA377292451DUSP29,KAT6Bc.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)
10g.75028696A>GCA377292454DUSP29,KAT6Bc.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)
10g.75028696A>TCA377292457DUSP29,KAT6Bc.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)
10g.75028697A>CCA377292461DUSP29,KAT6Bc.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)
10g.75028697A>GCA470299574DUSP29,KAT6Bc.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=)
10g.75028697A>TCA377292462DUSP29,KAT6Bc.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)
10g.75028698C>ACA377292465DUSP29,KAT6Bc.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)
10g.75028698C>GCA377292466DUSP29,KAT6Bc.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)
10g.75028698C>TCA377292467DUSP29,KAT6Bc.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)
10g.75028699A>CCA377292468DUSP29,KAT6Bc.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)
10g.75028699A>GCA377292469DUSP29,KAT6Bc.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)
10g.75028699A>TCA377292470DUSP29,KAT6Bc.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)
10g.75028701_75028703delCA2609745696DUSP29,KAT6Bc.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
10g.75028700G>ACA470299575DUSP29,KAT6Bc.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=)
10g.75028700G>CCA377292471DUSP29,KAT6Bc.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)
10g.75028700G>TCA377292472DUSP29,KAT6Bc.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)
10g.75028701A=CA1920306429DUSP29,KAT6Bc.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=)
10g.75028701A>CCA377292474DUSP29,KAT6Bc.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)
10g.75028701A>GCA377292476DUSP29,KAT6Bc.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

Number of alleles fetched