All transcript variants in gene RBMX

Information The variants shown are described using the NM_002139.3 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-3_-2insAA r.(=) p.(=) g.135961588_135961589insTT Copied from the Exome Variant Server RBMX_000045 1865/10183 1296/6474 569/3709
?/? c.-2del r.(=) p.(=) g.135961588del Copied from the Exome Variant Server RBMX_000044 827/10183 503/6474 324/3709
?/? c.-2dup r.(=) p.(=) g.135961588dup Copied from the Exome Variant Server RBMX_000043 3062/10183 2021/6474 1041/3709
?/? c.60T>C r.(=) p.(=) g.135961527A>G Copied from the Exome Variant Server RBMX_000042 1/10559 1/6724 0/3835
?/? c.109+34_109+39del r.(=) p.(=) g.135961439_135961444del Copied from the Exome Variant Server RBMX_000041 2/10205 2/6484 0/3721
?/? c.110-34G>A r.(=) p.(=) g.135961316C>T Copied from the Exome Variant Server RBMX_000040 1/10563 1/6728 0/3835
?/? c.110-18C>T r.(=) p.(=) g.135961300G>A Copied from the Exome Variant Server RBMX_000039 1/10563 1/6728 0/3835
?/? c.110-10T>C r.(=) p.(=) g.135961292A>G Copied from the Exome Variant Server RBMX_000038 1/10563 0/6728 1/3835
?/? c.183C>T r.(=) p.(=) g.135961209G>A Copied from the Exome Variant Server RBMX_000037 9/10563 8/6728 1/3835
?/? c.217-51T>C r.(=) p.(=) g.135960296A>G Copied from the Exome Variant Server RBMX_000036 1/10409 0/6617 1/3792
?/? c.217-22T>A r.(=) p.(=) g.135960267A>T Copied from the Exome Variant Server RBMX_000035 1/10543 0/6714 1/3829
?/? c.217-16del r.(=) p.(=) g.135960261del Copied from the Exome Variant Server RBMX_000033 1/10199 1/6479 0/3720
?/? c.217-16G>A r.(=) p.(=) g.135960261C>T Copied from the Exome Variant Server RBMX_000034 1/10557 1/6723 0/3834
?/? c.217-3del r.spl? p.? g.135960248del Copied from the Exome Variant Server RBMX_000032 119/10197 84/6478 35/3719
?/? c.217-3dup r.spl? p.? g.135960248dup Copied from the Exome Variant Server RBMX_000031 63/10197 36/6478 27/3719
?/? c.385A>G r.(?) p.(Met129Val) g.135960077T>C Copied from the Exome Variant Server RBMX_000030 1/10563 0/6728 1/3835
?/? c.388+19C>G r.(=) p.(=) g.135960055G>C Copied from the Exome Variant Server RBMX_000025 2/10563 0/6728 2/3835
?/? c.388+21C>T r.(=) p.(=) g.135960053G>A Copied from the Exome Variant Server RBMX_000024 22/10563 1/6728 21/3835
?/? c.388+22G>A r.(=) p.(=) g.135960052C>T Copied from the Exome Variant Server RBMX_000023 1/10563 0/6728 1/3835
?/? c.388+37G>A r.(=) p.(=) g.135960037C>T Copied from the Exome Variant Server RBMX_000022 1/10563 1/6728 0/3835
?/? c.388+52C>G r.(=) p.(=) g.135960022G>C Copied from the Exome Variant Server RBMX_000021 1/4525 1/3107 0/1418
?/? c.389-37T>A r.(=) p.(=) g.135958851A>T Copied from the Exome Variant Server RBMX_000020 1/10400 0/6645 1/3755
?/? c.389-8T>C r.(=) p.(=) g.135958822A>G Copied from the Exome Variant Server RBMX_000019 2/10519 0/6710 2/3809
?/? c.389-7G>C r.(=) p.(=) g.135958821C>G Copied from the Exome Variant Server RBMX_000018 2/10534 2/6714 0/3820
?/? c.541+11C>G r.(=) p.(=) g.135958651G>C Copied from the Exome Variant Server RBMX_000017 224/10563 0/6728 224/3835
?/? c.541+35C>T r.(=) p.(=) g.135958627G>A Copied from the Exome Variant Server RBMX_000016 5/10563 0/6728 5/3835
?/? c.541+37G>A r.(=) p.(=) g.135958625C>T Copied from the Exome Variant Server RBMX_000015 1/10563 1/6728 0/3835
?/? c.541+43_541+44del r.(=) p.(=) g.135958618_135958619del Copied from the Exome Variant Server RBMX_000014 11/10205 9/6484 2/3721
?/? c.541+52G>A r.(=) p.(=) g.135958610C>T Copied from the Exome Variant Server RBMX_000013 1/4525 0/3107 1/1418
?/? c.542-52G>A r.(=) p.(=) g.135957796C>T Copied from the Exome Variant Server RBMX_000012 8/6016 0/3605 8/2411
?/? c.542-13A>G r.(=) p.(=) g.135957757T>C Copied from the Exome Variant Server RBMX_000011 9/10562 0/6727 9/3835
?/? c.549A>G r.(=) p.(=) g.135957737T>C Copied from the Exome Variant Server RBMX_000010 1/10563 1/6728 0/3835
?/? c.566G>A r.(?) p.(Ser189Asn) g.135957720C>T Copied from the Exome Variant Server RBMX_000009 1/10563 1/6728 0/3835
?/? c.594G>A r.(=) p.(=) g.135957692C>T Copied from the Exome Variant Server RBMX_000008 18/10562 2/6727 16/3835
?/? c.616T>C r.(?) p.(Tyr206His) g.135957670A>G Copied from the Exome Variant Server RBMX_000007 1/10563 1/6728 0/3835
?/? c.617A>G r.(?) p.(Tyr206Cys) g.135957669T>C Copied from the Exome Variant Server RBMX_000006 1/10563 0/6728 1/3835
?/? c.656+15C>T r.(=) p.(=) g.135957615G>A Copied from the Exome Variant Server RBMX_000005 1/10563 1/6728 0/3835
?/? c.656+26A>G r.(=) p.(=) g.135957604T>C Copied from the Exome Variant Server RBMX_000004 1/10561 0/6728 1/3833
?/? c.656+30A>T r.(=) p.(=) g.135957600T>A Copied from the Exome Variant Server RBMX_000003 246/10561 220/6728 26/3833
?/? c.656+35T>A r.(=) p.(=) g.135957595A>T Copied from the Exome Variant Server RBMX_000002 1/10563 1/6728 0/3835
?/? c.656+37A>G r.(=) p.(=) g.135957593T>C Copied from the Exome Variant Server RBMX_000001 3/10563 0/6728 3/3835
?/? c.656+44A>G r.(=) p.(=) g.135957586T>C Copied from the Exome Variant Server RBMX_000029 12/10563 11/6728 1/3835
?/? c.768A>G r.(=) p.(=) g.135957431T>C Copied from the Exome Variant Server RBMX_000028 1/10563 1/6728 0/3835
?/? c.782+36A>G r.(=) p.(=) g.135957381T>C Copied from the Exome Variant Server RBMX_000027 1/10563 1/6728 0/3835
?/? c.783-39G>A r.(=) p.(=) g.135957366C>T Copied from the Exome Variant Server RBMX_000026 1/10563 1/6728 0/3835
?/? c.783-27G>T r.(=) p.(=) g.135957354C>A Copied from the Exome Variant Server RBMX_000051 3/10563 0/6728 3/3835
?/? c.783-11C>T r.(=) p.(=) g.135957338G>A Copied from the Exome Variant Server RBMX_000050 1/10563 1/6728 0/3835
?/? c.866-51T>C r.(=) p.(=) g.135956662A>G Copied from the Exome Variant Server RBMX_000049 1/10493 1/6694 0/3799
?/? c.936T>G r.(?) p.(Asp312Glu) g.135956541A>C Copied from the Exome Variant Server RBMX_000048 4/10563 0/6728 4/3835
?/? c.976A>G r.(?) p.(Ser326Gly) g.135956501T>C Copied from the Exome Variant Server RBMX_000047 1/10558 1/6723 0/3835
?/? c.997G>T r.(?) p.(Asp333Tyr) g.135956480C>A Copied from the Exome Variant Server RBMX_000046 27/10557 0/6722 27/3835
?/? c.1072C>T r.(?) p.(Pro358Ser) g.135956405G>A Copied from the Exome Variant Server RBMX_000055 1/10562 0/6727 1/3835
?/? c.1075C>T r.(?) p.(Pro359Ser) g.135956402G>A Copied from the Exome Variant Server RBMX_000054 1/10562 0/6727 1/3835
?/? c.1105C>T r.(?) p.(Arg369Cys) g.135956372G>A Copied from the Exome Variant Server RBMX_000053 1/10561 0/6728 1/3833
?/? c.*1748_*1749del r.(=) p.(=) g.135954552_135954553del Copied from the Exome Variant Server RBMX_000052 26/5073 22/3253 4/1820
?/? c.*1764_*1765del r.(=) p.(=) g.135954536_135954537del Copied from the Exome Variant Server RBMX_000056 2/5126 1/3288 1/1838
?/? c.*1815_*1817del r.(=) p.(=) g.135954484_135954486del Copied from the Exome Variant Server RBMX_000057 24/5417 22/3442 2/1975
?/? c.*1869_*1871del r.(=) p.(=) g.135954430_135954432del Copied from the Exome Variant Server RBMX_000058 297/5510 174/3489 123/2021
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