Full data view for gene HMGN5

Information The variants shown are described using the NM_030763.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-30_-27del r.(=) p.(=) g.80377075_80377078del Copied from the Exome Variant Server HMGN5_000033 2/10205 1/6484 1/3721 - - - - - - -
?/? c.15+11T>C r.(=) p.(=) g.80377023A>G Copied from the Exome Variant Server HMGN5_000032 53/10563 0/6728 53/3835 - - - - - - -
?/? c.15+82G>T r.(=) p.(=) g.80376952C>A Copied from the Exome Variant Server HMGN5_000031 6/3600 2/2391 4/1209 - - - - - - -
?/? c.15+90del r.(=) p.(=) g.80376944del Copied from the Exome Variant Server HMGN5_000030 19/10205 16/6484 3/3721 - - - - - - -
?/? c.16-43A>G r.(=) p.(=) g.80375359T>C Copied from the Exome Variant Server HMGN5_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.23G>T r.(?) p.(Gly8Val) g.80375309C>A Copied from the Exome Variant Server HMGN5_000028 34/10563 32/6728 2/3835 - - - - - - -
?/? c.35T>C r.(?) p.(Met12Thr) g.80375297A>G Copied from the Exome Variant Server HMGN5_000027 2/10563 0/6728 2/3835 - - - - - - -
?/? c.46-50G>C r.(=) p.(=) g.80374308C>G Copied from the Exome Variant Server HMGN5_000026 1/10433 0/6651 1/3782 - - - - - - -
?/? c.46-15G>A r.(=) p.(=) g.80374273C>T Copied from the Exome Variant Server HMGN5_000025 16/10523 0/6702 16/3821 - - - - - - -
?/? c.46-3T>C r.spl? p.? g.80374261A>G Copied from the Exome Variant Server HMGN5_000024 1/10528 0/6706 1/3822 - - - - - - -
?/? c.75+24G>A r.(=) p.(=) g.80374205C>T Copied from the Exome Variant Server HMGN5_000023 3/10548 0/6715 3/3833 - - - - - - -
?/? c.76-44A>G r.(=) p.(=) g.80374028T>C Copied from the Exome Variant Server HMGN5_000022 1/10558 1/6724 0/3834 - - - - - - -
?/? c.76-22C>T r.(=) p.(=) g.80374006G>A Copied from the Exome Variant Server HMGN5_000021 1/10559 1/6724 0/3835 - - - - - - -
?/? c.79C>T r.(?) p.(Leu27Phe) g.80373981G>A Copied from the Exome Variant Server HMGN5_000020 225/10560 1/6725 224/3835 - - - - - - -
?/? c.85C>T r.(?) p.(Pro29Ser) g.80373975G>A Copied from the Exome Variant Server HMGN5_000019 1/10559 1/6724 0/3835 - - - - - - -
?/? c.99G>A r.(=) p.(=) g.80373961C>T Copied from the Exome Variant Server HMGN5_000018 80/10561 75/6726 5/3835 - - - - - - -
?/? c.129+45del r.(=) p.(=) g.80373886del Copied from the Exome Variant Server HMGN5_000017 73/10181 49/6463 24/3718 - - - - - - -
?/? c.129+45dup r.(=) p.(=) g.80373886dup Copied from the Exome Variant Server HMGN5_000016 58/10181 34/6463 24/3718 - - - - - - -
?/? c.202C>A r.(?) p.(Gln68Lys) g.80371768G>T Copied from the Exome Variant Server HMGN5_000015 1/10559 0/6724 1/3835 - - - - - - -
?/? c.267+45A>G r.(=) p.(=) g.80371658T>C Copied from the Exome Variant Server HMGN5_000014 11/10545 0/6715 11/3830 - - - - - - -
?/? c.267+49del r.(=) p.(=) g.80371654del Copied from the Exome Variant Server HMGN5_000013 5/10187 4/6471 1/3716 - - - - - - -
?/? c.268-9T>A r.(=) p.(=) g.80370738A>T Copied from the Exome Variant Server HMGN5_000012 1/10496 1/6693 0/3803 - - - - - - -
?/? c.329A>G r.(?) p.(Glu110Gly) g.80370668T>C Copied from the Exome Variant Server HMGN5_000011 1/10546 0/6719 1/3827 - - - - - - -
?/? c.367G>A r.(?) p.(Val123Ile) g.80370630C>T Copied from the Exome Variant Server HMGN5_000010 1/10409 1/6621 0/3788 - - - - - - -
?/? c.384_386del r.(?) p.(Glu128del) g.80370611_80370613del Copied from the Exome Variant Server HMGN5_000008 13/9842 10/6250 3/3592 - - - - - - -
?/? c.384_386dup r.(?) p.(Glu128dup) g.80370611_80370613dup Copied from the Exome Variant Server HMGN5_000009 3/9842 3/6250 0/3592 - - - - - - -
?/? c.465A>C r.(?) p.(Glu155Asp) g.80370532T>G Copied from the Exome Variant Server HMGN5_000007 2/8972 0/5617 2/3355 - - - - - - -
?/? c.495G>C r.(?) p.(Glu165Asp) g.80370502C>G Copied from the Exome Variant Server HMGN5_000006 16/8393 0/5238 16/3155 - - - - - - -
?/? c.511A>G r.(?) p.(Lys171Glu) g.80370486T>C Copied from the Exome Variant Server HMGN5_000005 1/8252 0/5119 1/3133 - - - - - - -
?/? c.534del r.(?) p.(Gly179Valfs*48) g.80370463del Copied from the Exome Variant Server HMGN5_000004 27/7626 14/4669 13/2957 - - - - - - -
?/? c.546A>C r.(=) p.(=) g.80370451T>G Copied from the Exome Variant Server HMGN5_000003 1/7897 1/4847 0/3050 - - - - - - -
?/? c.628G>C r.(?) p.(Glu210Gln) g.80370369C>G Copied from the Exome Variant Server HMGN5_000002 25/7650 0/4658 25/2992 - - - - - - -
?/? c.633_650del r.(?) p.(Asn211_Glu216del) g.80370347_80370364del Copied from the Exome Variant Server HMGN5_000001 3/7212 1/4389 2/2823 - - - - - - -
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