Full data view for gene HMG20B

Information The variants shown are described using the NM_006339.2 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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.38+21C>A r.(=) p.(=) g.3573366C>A Copied from the Exome Variant Server HMG20B_000001 8/11804 0/7986 8/3818 - - - - - - -
?/? c.39-37C>A r.(=) p.(=) g.3573653C>A Copied from the Exome Variant Server HMG20B_000002 1/11088 1/7666 0/3422 - - - - - - -
?/? c.39-4C>G r.spl? p.? g.3573686C>G Copied from the Exome Variant Server HMG20B_000003 1/11256 0/7768 1/3488 - - - - - - -
?/? c.90C>G r.(=) p.(=) g.3573741C>G Copied from the Exome Variant Server HMG20B_000004 1/12036 1/8180 0/3856 - - - - - - -
?/? c.116G>A r.(?) p.(Arg39His) g.3573767G>A Copied from the Exome Variant Server HMG20B_000005 7/12044 7/8178 0/3866 - - - - - - -
?/? c.117C>G r.(=) p.(=) g.3573768C>G Copied from the Exome Variant Server HMG20B_000006 1/12042 1/8178 0/3864 - - - - - - -
?/? c.141G>A r.(=) p.(=) g.3573792G>A Copied from the Exome Variant Server HMG20B_000007 7/12032 0/8190 7/3842 - - - - - - -
?/? c.147+47C>T r.(=) p.(=) g.3573845C>T Copied from the Exome Variant Server HMG20B_000008 8/11128 0/7726 8/3402 - - - - - - -
?/? c.148-10G>T r.(=) p.(=) g.3574371G>T Copied from the Exome Variant Server HMG20B_000009 1/11802 1/8098 0/3704 - - - - - - -
?/? c.231C>T r.(=) p.(=) g.3574464C>T Copied from the Exome Variant Server HMG20B_000010 13/12150 0/8240 13/3910 - - - - - - -
?/? c.246C>T r.(=) p.(=) g.3574479C>T Copied from the Exome Variant Server HMG20B_000011 1/12170 0/8262 1/3908 - - - - - - -
?/? c.249G>A r.(=) p.(=) g.3574482G>A Copied from the Exome Variant Server HMG20B_000012 1/12160 1/8254 0/3906 - - - - - - -
?/? c.351+3_351+7del r.spl? p.? g.3574587_3574591del Copied from the Exome Variant Server HMG20B_000013 5/11102 4/7622 1/3480 - - - - - - -
?/? c.351+11C>T r.(=) p.(=) g.3574595C>T Copied from the Exome Variant Server HMG20B_000014 2/11842 0/8102 2/3740 - - - - - - -
?/? c.351+35G>C r.(=) p.(=) g.3574619G>C Copied from the Exome Variant Server HMG20B_000015 4/11550 4/7934 0/3616 - - - - - - -
?/? c.352-29G>T r.(=) p.(=) g.3575509G>T Copied from the Exome Variant Server HMG20B_000016 3/12340 3/8272 0/4068 - - - - - - -
?/? c.352-23A>G r.(=) p.(=) g.3575515A>G Copied from the Exome Variant Server HMG20B_000017 1/12374 1/8298 0/4076 - - - - - - -
?/? c.352-4C>T r.spl? p.? g.3575534C>T Copied from the Exome Variant Server HMG20B_000018 2/12328 0/8310 2/4018 - - - - - - -
?/? c.352-3C>T r.spl? p.? g.3575535C>T Copied from the Exome Variant Server HMG20B_000019 9/12326 0/8310 9/4016 - - - - - - -
?/? c.392T>A r.(?) p.(Met131Lys) g.3575578T>A Copied from the Exome Variant Server HMG20B_000020 1/12256 1/8266 0/3990 - - - - - - -
?/? c.415C>G r.(?) p.(Gln139Glu) g.3575601C>G Copied from the Exome Variant Server HMG20B_000021 1/12016 1/8080 0/3936 - - - - - - -
?/? c.462G>A r.(=) p.(=) g.3575648G>A Copied from the Exome Variant Server HMG20B_000022 1/11184 0/7524 1/3660 - - - - - - -
?/? c.472+12C>A r.(=) p.(=) g.3575670C>A Copied from the Exome Variant Server HMG20B_000023 1/10500 0/7070 1/3430 - - - - - - -
?/? c.473-73C>T r.(=) p.(=) g.3576186C>T Copied from the Exome Variant Server HMG20B_000024 3/4566 0/3182 3/1384 - - - - - - -
?/? c.473-48T>A r.(=) p.(=) g.3576211T>A Copied from the Exome Variant Server HMG20B_000025 1/12682 0/8430 1/4252 - - - - - - -
?/? c.480G>A r.(=) p.(=) g.3576266G>A Copied from the Exome Variant Server HMG20B_000026 1/12448 0/8344 1/4104 - - - - - - -
?/? c.485C>T r.(?) p.(Ser162Phe) g.3576271C>T Copied from the Exome Variant Server HMG20B_000027 1/12444 1/8350 0/4094 - - - - - - -
?/? c.519+10_519+12del r.(=) p.(=) g.3576315_3576317del Copied from the Exome Variant Server HMG20B_000028 3103/11792 2799/7956 304/3836 - - - - - - -
?/? c.519+69A>T r.(=) p.(=) g.3576374A>T Copied from the Exome Variant Server HMG20B_000029 1/4566 0/3182 1/1384 - - - - - - -
?/? c.520-54G>C r.(=) p.(=) g.3576497G>C Copied from the Exome Variant Server HMG20B_000030 1/4566 1/3182 0/1384 - - - - - - -
?/? c.520-26A>G r.(=) p.(=) g.3576525A>G Copied from the Exome Variant Server HMG20B_000031 1/12624 1/8438 0/4186 - - - - - - -
?/? c.567T>G r.(=) p.(=) g.3576598T>G Copied from the Exome Variant Server HMG20B_000032 1/12368 0/8330 1/4038 - - - - - - -
?/? c.592G>T r.(?) p.(Ala198Ser) g.3576623G>T Copied from the Exome Variant Server HMG20B_000033 1/12298 1/8310 0/3988 - - - - - - -
?/? c.592+16G>A r.(=) p.(=) g.3576639G>A Copied from the Exome Variant Server HMG20B_000034 53/12242 0/8294 53/3948 - - - - - - -
?/? c.592+27G>A r.(=) p.(=) g.3576650G>A Copied from the Exome Variant Server HMG20B_000035 36/12196 36/8288 0/3908 - - - - - - -
?/? c.593-41A>G r.(=) p.(=) g.3576849A>G Copied from the Exome Variant Server HMG20B_000036 13/11906 1/8052 12/3854 - - - - - - -
?/? c.593-13del r.(=) p.(=) g.3576877del Copied from the Exome Variant Server HMG20B_000037 93/11390 62/7702 31/3688 - - - - - - -
?/? c.593-9C>A r.(=) p.(=) g.3576881C>A Copied from the Exome Variant Server HMG20B_000038 1/12142 1/8186 0/3956 - - - - - - -
?/? c.625A>G r.(?) p.(Met209Val) g.3576922A>G Copied from the Exome Variant Server HMG20B_000039 11/12624 10/8416 1/4208 - - - - - - -
?/? c.631G>A r.(?) p.(Val211Met) g.3576928G>A Copied from the Exome Variant Server HMG20B_000040 1/12664 0/8432 1/4232 - - - - - - -
?/? c.685A>T r.(?) p.(Ser229Cys) g.3576982A>T Copied from the Exome Variant Server HMG20B_000041 1/12668 1/8424 0/4244 - - - - - - -
?/? c.719T>A r.(?) p.(Leu240Gln) g.3577016T>A Copied from the Exome Variant Server HMG20B_000042 1/12410 0/8274 1/4136 - - - - - - -
?/? c.763G>T r.(?) p.(Val255Leu) g.3577060G>T Copied from the Exome Variant Server HMG20B_000043 1/10708 0/7200 1/3508 - - - - - - -
?/? c.771G>A r.(=) p.(=) g.3577068G>A Copied from the Exome Variant Server HMG20B_000044 4/10236 0/6896 4/3340 - - - - - - -
?/? c.808+11C>T r.(=) p.(=) g.3577116C>T Copied from the Exome Variant Server HMG20B_000045 40/6942 34/4758 6/2184 - - - - - - -
?/? c.880G>A r.(?) p.(Asp294Asn) g.3578050G>A Copied from the Exome Variant Server HMG20B_000046 1/12210 1/8254 0/3956 - - - - - - -
?/? c.941+32G>A r.(=) p.(=) g.3578143G>A Copied from the Exome Variant Server HMG20B_000047 1/11776 1/8070 0/3706 - - - - - - -
?/? c.942-52del r.(=) p.(=) g.3578455del Copied from the Exome Variant Server HMG20B_000048 198/10602 6/7342 192/3260 - - - - - - -
?/? c.942-14_942-13del r.(=) p.(=) g.3578493_3578494del Copied from the Exome Variant Server HMG20B_000049 21/11262 10/7756 11/3506 - - - - - - -
?/? c.945G>A r.(=) p.(=) g.3578510G>A Copied from the Exome Variant Server HMG20B_000050 14/11824 0/8142 14/3682 - - - - - - -
?/? c.*254C>T r.(=) p.(=) g.3578773C>T Copied from the Exome Variant Server HMG20B_000051 285/5682 109/3944 176/1738 - - - - - - -
?/? c.*285C>T r.(=) p.(=) g.3578804C>T Copied from the Exome Variant Server HMG20B_000052 1/5662 0/3942 1/1720 - - - - - - -
?/? c.*311A>G r.(=) p.(=) g.3578830A>G Copied from the Exome Variant Server HMG20B_000053 1/5628 1/3922 0/1706 - - - - - - -
?/? c.*359C>T r.(=) p.(=) g.3578878C>T Copied from the Exome Variant Server HMG20B_000054 4/5458 4/3806 0/1652 - - - - - - -
?/? c.*406_*416del r.(=) p.(=) g.3578925_3578935del Copied from the Exome Variant Server HMG20B_000055 73/6316 0/4278 73/2038 - - - - - - -
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