All transcript variants in gene KDM6B

Information The variants shown are described using the NM_001080424.1 transcript reference sequence.

277 entries on 3 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-5-36C>T r.(=) p.(=) g.7748832C>T Copied from the Exome Variant Server KDM6B_000001 1/12980 0/8582 1/4398
?/? c.13G>C r.(?) p.(Val5Leu) g.7748885G>C Copied from the Exome Variant Server KDM6B_000002 1/13004 1/8600 0/4404
?/? c.29C>T r.(?) p.(Ala10Val) g.7748901C>T Copied from the Exome Variant Server KDM6B_000003 1/13006 0/8600 1/4406
?/? c.37G>A r.(?) p.(Ala13Thr) g.7748909G>A Copied from the Exome Variant Server KDM6B_000004 1/13006 1/8600 0/4406
?/? c.100C>T r.(?) p.(His34Tyr) g.7748972C>T Copied from the Exome Variant Server KDM6B_000005 1/13004 0/8598 1/4406
?/? c.137+26C>T r.(=) p.(=) g.7749035C>T Copied from the Exome Variant Server KDM6B_000006 1/13006 0/8600 1/4406
?/? c.137+35C>G r.(=) p.(=) g.7749044C>G Copied from the Exome Variant Server KDM6B_000007 5/13006 5/8600 0/4406
?/? c.137+37C>T r.(=) p.(=) g.7749046C>T Copied from the Exome Variant Server KDM6B_000008 5/13006 1/8600 4/4406
?/? c.138-45G>C r.(=) p.(=) g.7749145G>C Copied from the Exome Variant Server KDM6B_000009 1/13006 1/8600 0/4406
?/? c.138-32T>A r.(=) p.(=) g.7749158T>A Copied from the Exome Variant Server KDM6B_000010 1/13006 1/8600 0/4406
?/? c.138-29C>T r.(=) p.(=) g.7749161C>T Copied from the Exome Variant Server KDM6B_000011 2/13006 2/8600 0/4406
?/? c.138-13_138-11del r.(=) p.(=) g.7749177_7749179del Copied from the Exome Variant Server KDM6B_000012 120/12518 75/8254 45/4264
?/? c.165G>A r.(=) p.(=) g.7749217G>A Copied from the Exome Variant Server KDM6B_000013 26/13006 0/8600 26/4406
?/? c.170C>T r.(?) p.(Pro57Leu) g.7749222C>T Copied from the Exome Variant Server KDM6B_000014 1/13006 0/8600 1/4406
?/? c.181C>T r.(?) p.(Pro61Ser) g.7749233C>T Copied from the Exome Variant Server KDM6B_000015 1/13006 1/8600 0/4406
?/? c.184C>T r.(?) p.(Pro62Ser) g.7749236C>T Copied from the Exome Variant Server KDM6B_000016 1/13006 1/8600 0/4406
?/? c.206G>C r.(?) p.(Gly69Ala) g.7749258G>C Copied from the Exome Variant Server KDM6B_000017 1/13006 1/8600 0/4406
?/? c.237-49C>T r.(=) p.(=) g.7749347C>T Copied from the Exome Variant Server KDM6B_000018 1/12994 0/8592 1/4402
?/? c.237-48C>T r.(=) p.(=) g.7749348C>T Copied from the Exome Variant Server KDM6B_000019 1/12986 1/8584 0/4402
?/? c.239C>T r.(?) p.(Ala80Val) g.7749398C>T Copied from the Exome Variant Server KDM6B_000020 2/12896 2/8544 0/4352
?/? c.248C>T r.(?) p.(Pro83Leu) g.7749407C>T Copied from the Exome Variant Server KDM6B_000021 4/12980 0/8588 4/4392
?/? c.259C>T r.(?) p.(His87Tyr) g.7749418C>T Copied from the Exome Variant Server KDM6B_000022 1/13000 1/8598 0/4402
?/? c.304C>T r.(?) p.(Arg102Trp) g.7749463C>T Copied from the Exome Variant Server KDM6B_000023 2/13006 2/8600 0/4406
?/? c.325C>T r.(?) p.(Leu109Phe) g.7749484C>T Copied from the Exome Variant Server KDM6B_000024 1/13006 1/8600 0/4406
?/? c.367A>G r.(?) p.(Ser123Gly) g.7749526A>G Copied from the Exome Variant Server KDM6B_000025 2/13006 0/8600 2/4406
?/? c.374A>G r.(?) p.(Glu125Gly) g.7749533A>G Copied from the Exome Variant Server KDM6B_000026 1/13006 1/8600 0/4406
?/? c.408C>T r.(=) p.(=) g.7749567C>T Copied from the Exome Variant Server KDM6B_000027 1/13006 1/8600 0/4406
?/? c.420C>T r.(=) p.(=) g.7749579C>T Copied from the Exome Variant Server KDM6B_000028 1/13004 1/8600 0/4404
?/? c.421G>A r.(?) p.(Ala141Thr) g.7749580G>A Copied from the Exome Variant Server KDM6B_000029 1/13004 1/8600 0/4404
?/? c.436C>T r.(?) p.(Arg146Cys) g.7749595C>T Copied from the Exome Variant Server KDM6B_000030 2/13002 2/8596 0/4406
?/? c.456+6A>G r.(=) p.(=) g.7749621A>G Copied from the Exome Variant Server KDM6B_000031 632/13000 580/8594 52/4406
?/? c.456+43G>A r.(=) p.(=) g.7749658G>A Copied from the Exome Variant Server KDM6B_000032 1/12944 0/8556 1/4388
?/? c.457-34C>T r.(=) p.(=) g.7749684C>T Copied from the Exome Variant Server KDM6B_000033 1/12650 1/8378 0/4272
?/? c.457-19C>T r.(=) p.(=) g.7749699C>T Copied from the Exome Variant Server KDM6B_000034 1/12598 0/8342 1/4256
?/? c.485C>T r.(?) p.(Ser162Phe) g.7749746C>T Copied from the Exome Variant Server KDM6B_000035 2/12994 2/8594 0/4400
?/? c.501C>G r.(=) p.(=) g.7749762C>G Copied from the Exome Variant Server KDM6B_000036 2/13004 2/8600 0/4404
?/? c.515C>A r.(?) p.(Pro172Gln) g.7749776C>A Copied from the Exome Variant Server KDM6B_000037 1/13006 1/8600 0/4406
?/? c.522G>A r.(=) p.(=) g.7749783G>A Copied from the Exome Variant Server KDM6B_000038 9/13006 0/8600 9/4406
?/? c.538C>T r.(=) p.(=) g.7749799C>T Copied from the Exome Variant Server KDM6B_000039 3/13006 3/8600 0/4406
?/? c.549+6G>C r.(=) p.(=) g.7749816G>C Copied from the Exome Variant Server KDM6B_000040 1/13006 1/8600 0/4406
?/? c.549+33A>G r.(=) p.(=) g.7749843A>G Copied from the Exome Variant Server KDM6B_000041 1/13006 0/8600 1/4406
?/? c.550-34C>T r.(=) p.(=) g.7749863C>T Copied from the Exome Variant Server KDM6B_000042 20/13000 0/8594 20/4406
?/? c.550-14C>T r.(=) p.(=) g.7749883C>T Copied from the Exome Variant Server KDM6B_000043 1/12998 1/8596 0/4402
?/? c.561C>T r.(=) p.(=) g.7749908C>T Copied from the Exome Variant Server KDM6B_000044 1/13002 1/8596 0/4406
?/? c.588G>A r.(=) p.(=) g.7749935G>A Copied from the Exome Variant Server KDM6B_000045 2/13004 1/8598 1/4406
?/? c.596G>A r.(?) p.(Arg199Gln) g.7749943G>A Copied from the Exome Variant Server KDM6B_000046 1/13004 1/8598 0/4406
?/? c.607C>G r.(?) p.(Pro203Ala) g.7749954C>G Copied from the Exome Variant Server KDM6B_000047 1250/13004 237/8598 1013/4406
?/? c.625G>T r.(?) p.(Val209Leu) g.7749972G>T Copied from the Exome Variant Server KDM6B_000048 40/13006 34/8600 6/4406
?/? c.663G>C r.(?) p.(Glu221Asp) g.7750010G>C Copied from the Exome Variant Server KDM6B_000049 275/13006 250/8600 25/4406
?/? c.690G>A r.(=) p.(=) g.7750037G>A Copied from the Exome Variant Server KDM6B_000050 2/13006 2/8600 0/4406
?/? c.711+7G>A r.(=) p.(=) g.7750065G>A Copied from the Exome Variant Server KDM6B_000051 2/13006 1/8600 1/4406
?/? c.711+25G>A r.(=) p.(=) g.7750083G>A Copied from the Exome Variant Server KDM6B_000052 271/13006 252/8600 19/4406
?/? c.712-37C>T r.(=) p.(=) g.7750100C>T Copied from the Exome Variant Server KDM6B_000053 1/13006 0/8600 1/4406
?/? c.712-35T>C r.(=) p.(=) g.7750102T>C Copied from the Exome Variant Server KDM6B_000054 1/13006 1/8600 0/4406
?/? c.712-25A>T r.(=) p.(=) g.7750112A>T Copied from the Exome Variant Server KDM6B_000055 1/13006 1/8600 0/4406
?/? c.712-22C>T r.(=) p.(=) g.7750115C>T Copied from the Exome Variant Server KDM6B_000056 3/13006 0/8600 3/4406
?/? c.712-9C>T r.(=) p.(=) g.7750128C>T Copied from the Exome Variant Server KDM6B_000057 2/13006 1/8600 1/4406
?/? c.712-5C>T r.spl? p.? g.7750132C>T Copied from the Exome Variant Server KDM6B_000058 1/13006 1/8600 0/4406
?/? c.712-4C>A r.spl? p.? g.7750133C>A Copied from the Exome Variant Server KDM6B_000059 4/13006 0/8600 4/4406
?/? c.717C>A r.(=) p.(=) g.7750142C>A Copied from the Exome Variant Server KDM6B_000060 1/13006 1/8600 0/4406
?/? c.740C>T r.(?) p.(Pro247Leu) g.7750165C>T Copied from the Exome Variant Server KDM6B_000061 2/12994 2/8590 0/4404
?/? c.742_756del r.(?) p.(Leu251_Pro255del) g.7750167_7750181del Copied from the Exome Variant Server KDM6B_000062 43/12446 34/8212 9/4234
?/? c.789A>G r.(=) p.(=) g.7750214A>G Copied from the Exome Variant Server KDM6B_000063 6/12954 5/8578 1/4376
?/? c.807T>C r.(=) p.(=) g.7750232T>C Copied from the Exome Variant Server KDM6B_000064 3210/12998 1670/8596 1540/4402
?/? c.837A>G r.(=) p.(=) g.7750262A>G Copied from the Exome Variant Server KDM6B_000065 13/13006 13/8600 0/4406
?/? c.880C>T r.(?) p.(Arg294Cys) g.7750305C>T Copied from the Exome Variant Server KDM6B_000066 2/13006 1/8600 1/4406
?/? c.881G>A r.(?) p.(Arg294His) g.7750306G>A Copied from the Exome Variant Server KDM6B_000067 1/13006 0/8600 1/4406
?/? c.885G>A r.(=) p.(=) g.7750310G>A Copied from the Exome Variant Server KDM6B_000068 2/13006 1/8600 1/4406
?/? c.896C>G r.(?) p.(Pro299Arg) g.7750321C>G Copied from the Exome Variant Server KDM6B_000069 1/13006 1/8600 0/4406
?/? c.909+23T>C r.(=) p.(=) g.7750357T>C Copied from the Exome Variant Server KDM6B_000070 1268/13006 237/8600 1031/4406
?/? c.909+24C>T r.(=) p.(=) g.7750358C>T Copied from the Exome Variant Server KDM6B_000071 1/13006 0/8600 1/4406
?/? c.909+34C>T r.(=) p.(=) g.7750368C>T Copied from the Exome Variant Server KDM6B_000072 1/13006 0/8600 1/4406
?/? c.910-38T>C r.(=) p.(=) g.7750385T>C Copied from the Exome Variant Server KDM6B_000073 1/13006 1/8600 0/4406
?/? c.910-29C>T r.(=) p.(=) g.7750394C>T Copied from the Exome Variant Server KDM6B_000074 3/13002 3/8600 0/4402
?/? c.910-7C>T r.(=) p.(=) g.7750416C>T Copied from the Exome Variant Server KDM6B_000075 41/13002 0/8600 41/4402
?/? c.910-4A>C r.spl? p.? g.7750419A>C Copied from the Exome Variant Server KDM6B_000076 5/13002 0/8600 5/4402
?/? c.917G>A r.(?) p.(Arg306Gln) g.7750430G>A Copied from the Exome Variant Server KDM6B_000077 1/12998 1/8598 0/4400
?/? c.923C>T r.(?) p.(Ser308Leu) g.7750436C>T Copied from the Exome Variant Server KDM6B_000078 41/12996 25/8594 16/4402
?/? c.933C>T r.(=) p.(=) g.7750446C>T Copied from the Exome Variant Server KDM6B_000079 3/12996 0/8596 3/4400
?/? c.965C>T r.(?) p.(Ala322Val) g.7750478C>T Copied from the Exome Variant Server KDM6B_000080 1/12952 1/8562 0/4390
?/? c.969C>T r.(=) p.(=) g.7750482C>T Copied from the Exome Variant Server KDM6B_000081 1/12940 0/8554 1/4386
?/? c.982C>T r.(?) p.(Arg328Trp) g.7750495C>T Copied from the Exome Variant Server KDM6B_000082 6/12858 6/8502 0/4356
?/? c.993G>A r.(=) p.(=) g.7750506G>A Copied from the Exome Variant Server KDM6B_000083 2/12800 1/8468 1/4332
?/? c.1020C>T r.(=) p.(=) g.7750533C>T Copied from the Exome Variant Server KDM6B_000084 1/12848 0/8496 1/4352
?/? c.1065C>T r.(=) p.(=) g.7750578C>T Copied from the Exome Variant Server KDM6B_000085 1/13000 0/8596 1/4404
?/? c.1068C>T r.(=) p.(=) g.7750581C>T Copied from the Exome Variant Server KDM6B_000086 1/13002 0/8598 1/4404
?/? c.1113C>T r.(=) p.(=) g.7750626C>T Copied from the Exome Variant Server KDM6B_000087 1/13006 0/8600 1/4406
?/? c.1120G>A r.(?) p.(Val374Ile) g.7750633G>A Copied from the Exome Variant Server KDM6B_000088 1/13006 1/8600 0/4406
?/? c.1146C>T r.(=) p.(=) g.7750659C>T Copied from the Exome Variant Server KDM6B_000089 53/13006 1/8600 52/4406
?/? c.1157C>T r.(?) p.(Ala386Val) g.7750670C>T Copied from the Exome Variant Server KDM6B_000090 63/13006 0/8600 63/4406
?/? c.1163C>T r.(?) p.(Ser388Phe) g.7750676C>T Copied from the Exome Variant Server KDM6B_000091 1/13006 0/8600 1/4406
?/? c.1208G>A r.(?) p.(Ser403Asn) g.7750721G>A Copied from the Exome Variant Server KDM6B_000092 1/13006 0/8600 1/4406
?/? c.1231C>T r.(?) p.(Arg411Trp) g.7750744C>T Copied from the Exome Variant Server KDM6B_000093 1/13006 1/8600 0/4406
?/? c.1245G>A r.(=) p.(=) g.7750758G>A Copied from the Exome Variant Server KDM6B_000094 2/13004 2/8598 0/4406
?/? c.1257+9C>A r.(=) p.(=) g.7750779C>A Copied from the Exome Variant Server KDM6B_000095 1/13004 0/8598 1/4406
?/? c.1257+43G>C r.(=) p.(=) g.7750813G>C Copied from the Exome Variant Server KDM6B_000096 1/13006 0/8600 1/4406
?/? c.1258-36G>A r.(=) p.(=) g.7750828G>A Copied from the Exome Variant Server KDM6B_000097 30/13006 0/8600 30/4406
?/? c.1258-30T>C r.(=) p.(=) g.7750834T>C Copied from the Exome Variant Server KDM6B_000098 3/13006 3/8600 0/4406
?/? c.1258-17T>C r.(=) p.(=) g.7750847T>C Copied from the Exome Variant Server KDM6B_000099 3809/13004 1943/8600 1866/4404
?/? c.1270C>T r.(?) p.(His424Tyr) g.7750876C>T Copied from the Exome Variant Server KDM6B_000100 1/13004 1/8600 0/4404
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