Unique variants in gene RBMX2

Information The variants shown are described using the NM_016024.2 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-46C>T r.(=) p.(=) g.129535961C>T Copied from the Exome Variant Server RBMX2_000001 355/9589 8/6374 347/3215
1 c.5+39C>T r.(=) p.(=) g.129536050C>T Copied from the Exome Variant Server RBMX2_000002 1/9790 1/6450 0/3340
1 c.5+73G>C r.(=) p.(=) g.129536084G>C Copied from the Exome Variant Server RBMX2_000003 13/3590 0/2384 13/1206
1 c.6-32C>T r.(=) p.(=) g.129536197C>T Copied from the Exome Variant Server RBMX2_000004 4/9446 2/6317 2/3129
1 c.6-20del r.(=) p.(=) g.129536209del Copied from the Exome Variant Server RBMX2_000006 650/8971 471/6040 179/2931
1 c.6-20dup r.(=) p.(=) g.129536209dup Copied from the Exome Variant Server RBMX2_000005 307/8971 117/6040 190/2931
1 c.6-17C>G r.(=) p.(=) g.129536212C>G Copied from the Exome Variant Server RBMX2_000007 2/9405 2/6326 0/3079
1 c.6-15C>G r.(=) p.(=) g.129536214C>G Copied from the Exome Variant Server RBMX2_000008 2/9384 2/6323 0/3061
1 c.8C>G r.(?) p.(Pro3Arg) g.129536231C>G Copied from the Exome Variant Server RBMX2_000009 1/9512 1/6381 0/3131
1 c.9T>G r.(=) p.(=) g.129536232T>G Copied from the Exome Variant Server RBMX2_000010 51/9512 0/6381 51/3131
1 c.36G>A r.(=) p.(=) g.129536259G>A Copied from the Exome Variant Server RBMX2_000011 1/9682 0/6426 1/3256
1 c.122-75G>A r.(=) p.(=) g.129537701G>A Copied from the Exome Variant Server RBMX2_000012 1/3600 1/2391 0/1209
1 c.122-62C>T r.(=) p.(=) g.129537714C>T Copied from the Exome Variant Server RBMX2_000013 1/3600 1/2391 0/1209
1 c.122-41G>C r.(=) p.(=) g.129537735G>C Copied from the Exome Variant Server RBMX2_000014 9/9782 9/6474 0/3308
1 c.161G>A r.(?) p.(Cys54Tyr) g.129537815G>A Copied from the Exome Variant Server RBMX2_000015 1/9802 1/6488 0/3314
1 c.173+15A>G r.(=) p.(=) g.129537842A>G Copied from the Exome Variant Server RBMX2_000016 2/9753 0/6461 2/3292
1 c.173+24C>T r.(=) p.(=) g.129537851C>T Copied from the Exome Variant Server RBMX2_000017 1/9751 1/6451 0/3300
1 c.173+33C>T r.(=) p.(=) g.129537860C>T Copied from the Exome Variant Server RBMX2_000018 1/9719 1/6441 0/3278
1 c.187G>A r.(?) p.(Val63Ile) g.129543244G>A Copied from the Exome Variant Server RBMX2_000019 2/9371 0/6359 2/3012
1 c.259C>A r.(?) p.(Gln87Lys) g.129543316C>A Copied from the Exome Variant Server RBMX2_000020 1/9516 0/6392 1/3124
1 c.304-44G>T r.(=) p.(=) g.129545278G>T Copied from the Exome Variant Server RBMX2_000021 4/9720 4/6435 0/3285
1 c.304-15G>A r.(=) p.(=) g.129545307G>A Copied from the Exome Variant Server RBMX2_000022 1203/9725 18/6439 1185/3286
1 c.346C>T r.(?) p.(Arg116Trp) g.129545364C>T Copied from the Exome Variant Server RBMX2_000024 1/9648 1/6428 0/3220
1 c.347G>A r.(?) p.(Arg116Gln) g.129545365G>A Copied from the Exome Variant Server RBMX2_000026 2/9631 2/6423 0/3208
1 c.349G>T r.(?) p.(Ala117Ser) g.129545367G>T Copied from the Exome Variant Server RBMX2_000028 1/9636 1/6420 0/3216
1 c.495A>G r.(=) p.(=) g.129546348A>G Copied from the Exome Variant Server RBMX2_000023 1/9338 1/6326 0/3012
1 c.499del r.(?) p.(Lys169Argfs*26) g.129546352del Copied from the Exome Variant Server RBMX2_000025 13/9013 8/6094 5/2919
1 c.525C>T r.(=) p.(=) g.129546378C>T Copied from the Exome Variant Server RBMX2_000027 3/9527 2/6397 1/3130
1 c.560C>T r.(?) p.(Ser187Leu) g.129546413C>T Copied from the Exome Variant Server RBMX2_000029 1/9756 0/6456 1/3300
1 c.639T>C r.(=) p.(=) g.129546492T>C Copied from the Exome Variant Server RBMX2_000030 1/9814 1/6486 0/3328
1 c.661G>A r.(?) p.(Gly221Arg) g.129546514G>A Copied from the Exome Variant Server RBMX2_000031 1/9773 1/6465 0/3308
1 c.686C>T r.(?) p.(Thr229Met) g.129546539C>T Copied from the Exome Variant Server RBMX2_000032 53/9750 1/6450 52/3300
1 c.726_728del r.(?) p.(Lys244del) g.129546579_129546581del Copied from the Exome Variant Server RBMX2_000033 11/9377 8/6231 3/3146
1 c.747C>T r.(=) p.(=) g.129546600C>T Copied from the Exome Variant Server RBMX2_000034 1/9759 1/6481 0/3278
1 c.768G>C r.(?) p.(Arg256Ser) g.129546621G>C Copied from the Exome Variant Server RBMX2_000035 1/9762 0/6480 1/3282
1 c.771G>A r.(=) p.(=) g.129546624G>A Copied from the Exome Variant Server RBMX2_000036 2/9758 0/6472 2/3286
1 c.812G>A r.(?) p.(Arg271Gln) g.129546665G>A Copied from the Exome Variant Server RBMX2_000037 1/9738 0/6462 1/3276
1 c.860G>A r.(?) p.(Arg287His) g.129546713G>A Copied from the Exome Variant Server RBMX2_000038 23/9564 0/6402 23/3162
1 c.887G>A r.(?) p.(Arg296Gln) g.129546740G>A Copied from the Exome Variant Server RBMX2_000039 1/9500 0/6384 1/3116
1 c.901A>G r.(?) p.(Arg301Gly) g.129546754A>G Copied from the Exome Variant Server RBMX2_000040 1/9448 1/6374 0/3074
1 c.916C>T r.(?) p.(Arg306*) g.129546769C>T Copied from the Exome Variant Server RBMX2_000041 1/9446 1/6382 0/3064
Legend