Full data view for gene KDM6A

Information The variants shown are described using the NM_021140.2 transcript reference sequence.

164 entries on 2 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-42del r.(=) p.(=) g.44732756del Copied from the Exome Variant Server KDM6A_000002 26/9810 13/6250 13/3560 - - - - - - -
?/? c.-42dup r.(=) p.(=) g.44732756dup Copied from the Exome Variant Server KDM6A_000001 23/9810 13/6250 10/3560 - - - - - - -
?/? c.-25G>C r.(=) p.(=) g.44732773G>C Copied from the Exome Variant Server KDM6A_000003 57/10521 0/6701 57/3820 - - - - - - -
?/? c.24_35del r.(?) p.(Thr10_Ala13del) g.44732821_44732832del Copied from the Exome Variant Server KDM6A_000004 10/9799 5/6225 5/3574 - - - - - - -
?/? c.39_40insGCC r.(?) p.(Ala17dup) g.44732836_44732837insGCC Copied from the Exome Variant Server KDM6A_000005 42/8345 3/5443 39/2902 - - - - - - -
?/? c.88G>A r.(?) p.(Ala30Thr) g.44732885G>A Copied from the Exome Variant Server KDM6A_000006 13/10136 0/6455 13/3681 - - - - - - -
?/? c.155_156insC r.(?) p.(Asp53Glyfs*12) g.44732952_44732953insC Copied from the Exome Variant Server KDM6A_000007 37/8791 16/5620 21/3171 - - - - - - -
?/? c.162-51G>C r.(=) p.(=) g.44733119G>C Copied from the Exome Variant Server KDM6A_000008 1/10550 0/6721 1/3829 - - - - - - -
?/? c.162-34A>T r.(=) p.(=) g.44733136A>T Copied from the Exome Variant Server KDM6A_000009 350/10559 0/6726 350/3833 - - - - - - -
?/? c.162-13_162-12del r.(=) p.(=) g.44733157_44733158del Copied from the Exome Variant Server KDM6A_000010 32/10203 18/6483 14/3720 - - - - - - -
?/? c.162-12C>G r.(=) p.(=) g.44733158C>G Copied from the Exome Variant Server KDM6A_000011 1/10562 1/6728 0/3834 - - - - - - -
?/? c.198C>T r.(=) p.(=) g.44733206C>T Copied from the Exome Variant Server KDM6A_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.201C>T r.(=) p.(=) g.44733209C>T Copied from the Exome Variant Server KDM6A_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.225+30A>C r.(=) p.(=) g.44733263A>C Copied from the Exome Variant Server KDM6A_000014 32/10557 0/6723 32/3834 - - - - - - -
?/? c.226-35T>A r.(=) p.(=) g.44820494T>A Copied from the Exome Variant Server KDM6A_000015 1/10527 1/6706 0/3821 - - - - - - -
?/? c.226-27T>C r.(=) p.(=) g.44820502T>C Copied from the Exome Variant Server KDM6A_000016 1/10543 1/6715 0/3828 - - - - - - -
?/? c.226-4C>A r.spl? p.? g.44820525C>A Copied from the Exome Variant Server KDM6A_000017 3/10552 0/6719 3/3833 - - - - - - -
?/? c.294A>G r.(=) p.(=) g.44820597A>G Copied from the Exome Variant Server KDM6A_000018 3/10559 0/6726 3/3833 - - - - - - -
?/? c.334+6T>G r.(=) p.(=) g.44820643T>G Copied from the Exome Variant Server KDM6A_000019 1/10557 0/6724 1/3833 - - - - - - -
?/? c.334+30A>T r.(=) p.(=) g.44820667A>T Copied from the Exome Variant Server KDM6A_000020 5/10542 0/6713 5/3829 - - - - - - -
?/? c.334+38A>T r.(=) p.(=) g.44820675A>T Copied from the Exome Variant Server KDM6A_000021 1/10528 0/6701 1/3827 - - - - - - -
?/? c.335-70C>A r.(=) p.(=) g.44833841C>A Copied from the Exome Variant Server KDM6A_000022 2388/3600 1251/2391 1137/1209 - - - - - - -
?/? c.335-20C>T r.(=) p.(=) g.44833891C>T Copied from the Exome Variant Server KDM6A_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.385-41A>G r.(=) p.(=) g.44870165A>G Copied from the Exome Variant Server KDM6A_000024 1/10547 1/6715 0/3832 - - - - - - -
?/? c.443+21T>C r.(=) p.(=) g.44870285T>C Copied from the Exome Variant Server KDM6A_000025 1/10554 1/6721 0/3833 - - - - - - -
?/? c.444-12A>G r.(=) p.(=) g.44879843A>G Copied from the Exome Variant Server KDM6A_000026 1/10563 0/6728 1/3835 - - - - - - -
?/? c.444-7C>T r.(=) p.(=) g.44879848C>T Copied from the Exome Variant Server KDM6A_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.564+18T>C r.(=) p.(=) g.44879993T>C Copied from the Exome Variant Server KDM6A_000028 1/10563 0/6728 1/3835 - - - - - - -
?/? c.564+44G>T r.(=) p.(=) g.44880019G>T Copied from the Exome Variant Server KDM6A_000029 10/10563 0/6728 10/3835 - - - - - - -
?/? c.564+45T>G r.(=) p.(=) g.44880020T>G Copied from the Exome Variant Server KDM6A_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.565-10C>T r.(=) p.(=) g.44894166C>T Copied from the Exome Variant Server KDM6A_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.565-5T>G r.spl? p.? g.44894171T>G Copied from the Exome Variant Server KDM6A_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.583G>A r.(?) p.(Val195Ile) g.44894194G>A Copied from the Exome Variant Server KDM6A_000033 1/10563 1/6728 0/3835 - - - - - - -
?/? c.619+6_619+8del r.(=) p.(=) g.44894236_44894238del Copied from the Exome Variant Server KDM6A_000034 1/10205 1/6484 0/3721 - - - - - - -
?/? c.620-53C>T r.(=) p.(=) g.44896847C>T Copied from the Exome Variant Server KDM6A_000035 185/3597 0/2388 185/1209 - - - - - - -
?/? c.620-43C>T r.(=) p.(=) g.44896857C>T Copied from the Exome Variant Server KDM6A_000036 3/10556 0/6723 3/3833 - - - - - - -
?/? c.620-29_620-28insT r.(=) p.(=) g.44896871_44896872insT Copied from the Exome Variant Server KDM6A_000037 4/10199 4/6480 0/3719 - - - - - - -
?/? c.642A>G r.(=) p.(=) g.44896922A>G Copied from the Exome Variant Server KDM6A_000038 1/10557 1/6724 0/3833 - - - - - - -
?/? c.655-23A>G r.(=) p.(=) g.44910931A>G Copied from the Exome Variant Server KDM6A_000039 9/10503 9/6699 0/3804 - - - - - - -
?/? c.655-16_655-15del r.(=) p.(=) g.44910938_44910939del Copied from the Exome Variant Server KDM6A_000040 2/10156 1/6456 1/3700 - - - - - - -
?/? c.709C>A r.(?) p.(Leu237Ile) g.44911008C>A Copied from the Exome Variant Server KDM6A_000041 1/10554 1/6725 0/3829 - - - - - - -
?/? c.719A>G r.(?) p.(Gln240Arg) g.44911018A>G Copied from the Exome Variant Server KDM6A_000042 1/10548 1/6725 0/3823 - - - - - - -
?/? c.749-50G>C r.(=) p.(=) g.44913024G>C Copied from the Exome Variant Server KDM6A_000043 1/10560 1/6728 0/3832 - - - - - - -
?/? c.749-29T>C r.(=) p.(=) g.44913045T>C Copied from the Exome Variant Server KDM6A_000044 1/10561 1/6728 0/3833 - - - - - - -
?/? c.749-24A>T r.(=) p.(=) g.44913050A>T Copied from the Exome Variant Server KDM6A_000045 3/10561 3/6728 0/3833 - - - - - - -
?/? c.749-22T>A r.(=) p.(=) g.44913052T>A Copied from the Exome Variant Server KDM6A_000046 2641/10561 418/6728 2223/3833 - - - - - - -
?/? c.749-17T>A r.(=) p.(=) g.44913057T>A Copied from the Exome Variant Server KDM6A_000047 4/10561 4/6728 0/3833 - - - - - - -
?/? c.754A>C r.(?) p.(Met252Leu) g.44913079A>C Copied from the Exome Variant Server KDM6A_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.813G>C r.(?) p.(Gln271His) g.44913138G>C Copied from the Exome Variant Server KDM6A_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.870C>T r.(=) p.(=) g.44913195C>T Copied from the Exome Variant Server KDM6A_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.875+16C>T r.(=) p.(=) g.44913216C>T Copied from the Exome Variant Server KDM6A_000051 3/10563 0/6728 3/3835 - - - - - - -
?/? c.875+41C>G r.(=) p.(=) g.44913241C>G Copied from the Exome Variant Server KDM6A_000052 5/10563 0/6728 5/3835 - - - - - - -
?/? c.876-51A>C r.(=) p.(=) g.44918200A>C Copied from the Exome Variant Server KDM6A_000053 1/10536 1/6715 0/3821 - - - - - - -
?/? c.876-29_876-28del r.(=) p.(=) g.44918222_44918223del Copied from the Exome Variant Server KDM6A_000054 191/10199 137/6480 54/3719 - - - - - - -
?/? c.876-29_876-28dup r.(=) p.(=) g.44918222_44918223dup Copied from the Exome Variant Server KDM6A_000055 81/10199 26/6480 55/3719 - - - - - - -
?/? c.876-28del r.(=) p.(=) g.44918223del Copied from the Exome Variant Server KDM6A_000057 3372/10199 2504/6480 868/3719 - - - - - - -
?/? c.876-28dup r.(=) p.(=) g.44918223dup Copied from the Exome Variant Server KDM6A_000056 1456/10199 530/6480 926/3719 - - - - - - -
?/? c.974+26T>C r.(=) p.(=) g.44918375T>C Copied from the Exome Variant Server KDM6A_000058 1/10562 1/6727 0/3835 - - - - - - -
?/? c.974+34T>C r.(=) p.(=) g.44918383T>C Copied from the Exome Variant Server KDM6A_000059 1/10561 1/6726 0/3835 - - - - - - -
?/? c.975-45C>T r.(=) p.(=) g.44918447C>T Copied from the Exome Variant Server KDM6A_000061 2/10561 0/6727 2/3834 - - - - - - -
?/? c.975-43G>T r.(=) p.(=) g.44918449G>T Copied from the Exome Variant Server KDM6A_000063 1/10562 0/6728 1/3834 - - - - - - -
?/? c.1194+6A>G r.(=) p.(=) g.44918717A>G Copied from the Exome Variant Server KDM6A_000065 1/10557 1/6726 0/3831 - - - - - - -
?/? c.1194+17G>A r.(=) p.(=) g.44918728G>A Copied from the Exome Variant Server KDM6A_000067 6/10546 5/6716 1/3830 - - - - - - -
?/? c.1215A>T r.(=) p.(=) g.44919287A>T Copied from the Exome Variant Server KDM6A_000069 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1284C>T r.(=) p.(=) g.44919356C>T Copied from the Exome Variant Server KDM6A_000060 6/10563 1/6728 5/3835 - - - - - - -
?/? c.1330-35T>C r.(=) p.(=) g.44920534T>C Copied from the Exome Variant Server KDM6A_000062 5/10540 5/6716 0/3824 - - - - - - -
?/? c.1330-27del r.(=) p.(=) g.44920542del Copied from the Exome Variant Server KDM6A_000066 78/10191 46/6478 32/3713 - - - - - - -
?/? c.1330-27dup r.(=) p.(=) g.44920542dup Copied from the Exome Variant Server KDM6A_000064 53/10191 31/6478 22/3713 - - - - - - -
?/? c.1335T>G r.(=) p.(=) g.44920574T>G Copied from the Exome Variant Server KDM6A_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1354G>A r.(?) p.(Gly452Arg) g.44920593G>A Copied from the Exome Variant Server KDM6A_000070 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1358A>C r.(?) p.(His453Pro) g.44920597A>C Copied from the Exome Variant Server KDM6A_000071 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1402T>C r.(?) p.(Cys468Arg) g.44920641T>C Copied from the Exome Variant Server KDM6A_000072 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1425+47_1425+48insT r.(=) p.(=) g.44920711_44920712insT Copied from the Exome Variant Server KDM6A_000073 1/10198 1/6479 0/3719 - - - - - - -
?/? c.1441C>T r.(?) p.(Arg481Cys) g.44921907C>T Copied from the Exome Variant Server KDM6A_000074 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1443C>T r.(=) p.(=) g.44921909C>T Copied from the Exome Variant Server KDM6A_000075 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1515G>C r.(?) p.(Met505Ile) g.44921981G>C Copied from the Exome Variant Server KDM6A_000076 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1527+3G>A r.spl? p.? g.44921996G>A Copied from the Exome Variant Server KDM6A_000077 45/10563 43/6728 2/3835 - - - - - - -
?/? c.1527+9A>G r.(=) p.(=) g.44922002A>G Copied from the Exome Variant Server KDM6A_000078 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1528-24A>G r.(=) p.(=) g.44922643A>G Copied from the Exome Variant Server KDM6A_000079 1/10519 1/6697 0/3822 - - - - - - -
?/? c.1528-5G>T r.spl? p.? g.44922662G>T Copied from the Exome Variant Server KDM6A_000080 1/10548 1/6715 0/3833 - - - - - - -
?/? c.1680T>C r.(=) p.(=) g.44922819T>C Copied from the Exome Variant Server KDM6A_000081 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1741A>G r.(?) p.(Thr581Ala) g.44922880A>G Copied from the Exome Variant Server KDM6A_000082 64/10563 0/6728 64/3835 - - - - - - -
?/? c.1751C>T r.(?) p.(Thr584Met) g.44922890C>T Copied from the Exome Variant Server KDM6A_000083 13/10563 13/6728 0/3835 - - - - - - -
?/? c.1790A>C r.(?) p.(His597Pro) g.44922929A>C Copied from the Exome Variant Server KDM6A_000084 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1842A>G r.(=) p.(=) g.44922981A>G Copied from the Exome Variant Server KDM6A_000085 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1843C>G r.(?) p.(Leu615Val) g.44922982C>G Copied from the Exome Variant Server KDM6A_000086 81/10563 0/6728 81/3835 - - - - - - -
?/? c.1861C>T r.(?) p.(Arg621Cys) g.44923000C>T Copied from the Exome Variant Server KDM6A_000088 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1862G>A r.(?) p.(Arg621His) g.44923001G>A Copied from the Exome Variant Server KDM6A_000090 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1923+39A>G r.(=) p.(=) g.44923101A>G Copied from the Exome Variant Server KDM6A_000092 1/10508 1/6687 0/3821 - - - - - - -
?/? c.1973G>A r.(?) p.(Arg658Gln) g.44928873G>A Copied from the Exome Variant Server KDM6A_000087 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2056C>T r.(?) p.(Pro686Ser) g.44928956C>T Copied from the Exome Variant Server KDM6A_000089 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2177C>A r.(?) p.(Thr726Lys) g.44929077C>A Copied from the Exome Variant Server KDM6A_000091 980/10563 794/6728 186/3835 - - - - - - -
?/? c.2265G>A r.(=) p.(=) g.44929165G>A Copied from the Exome Variant Server KDM6A_000093 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2280C>T r.(=) p.(=) g.44929180C>T Copied from the Exome Variant Server KDM6A_000094 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2331T>A r.(?) p.(Asn777Lys) g.44929231T>A Copied from the Exome Variant Server KDM6A_000095 5/10563 5/6728 0/3835 - - - - - - -
?/? c.2443G>T r.(?) p.(Val815Phe) g.44929343G>T Copied from the Exome Variant Server KDM6A_000096 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2467A>G r.(?) p.(Ile823Val) g.44929367A>G Copied from the Exome Variant Server KDM6A_000097 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2473A>G r.(?) p.(Thr825Ala) g.44929373A>G Copied from the Exome Variant Server KDM6A_000098 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2608_2610del r.(?) p.(Leu872del) g.44929508_44929510del Copied from the Exome Variant Server KDM6A_000099 60/10203 47/6482 13/3721 - - - - - - -
?/? c.2702+18C>G r.(=) p.(=) g.44929620C>G Copied from the Exome Variant Server KDM6A_000100 4/10528 0/6716 4/3812 - - - - - - -
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