All transcript variants in gene CD40

Information The variants shown are described using the NM_001250.4 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-69del r.(=) p.(=) g.44746914del Copied from the Exome Variant Server CD40_000001 168/12506 0/8248 168/4258
?/? c.-41C>T r.(=) p.(=) g.44746942C>T Copied from the Exome Variant Server CD40_000002 458/13006 1/8600 457/4406
?/? c.-37G>C r.(=) p.(=) g.44746946G>C Copied from the Exome Variant Server CD40_000003 2/13006 0/8600 2/4406
?/? c.-33C>T r.(=) p.(=) g.44746950C>T Copied from the Exome Variant Server CD40_000004 1/13006 0/8600 1/4406
?/? c.-20C>G r.(=) p.(=) g.44746963C>G Copied from the Exome Variant Server CD40_000005 3/13006 0/8600 3/4406
?/? c.-1T>C r.(=) p.(=) g.44746982T>C Copied from the Exome Variant Server CD40_000006 10444/13006 6315/8600 4129/4406
?/? c.22T>G r.(?) p.(Cys8Gly) g.44747004T>G Copied from the Exome Variant Server CD40_000007 3/13006 0/8600 3/4406
?/? c.51+16C>T r.(=) p.(=) g.44747049C>T Copied from the Exome Variant Server CD40_000008 1/13006 0/8600 1/4406
?/? c.51+53G>A r.(=) p.(=) g.44747086G>A Copied from the Exome Variant Server CD40_000009 892/4566 800/3182 92/1384
?/? c.51+71C>T r.(=) p.(=) g.44747104C>T Copied from the Exome Variant Server CD40_000010 128/4566 3/3182 125/1384
?/? c.52-35C>T r.(=) p.(=) g.44750424C>T Copied from the Exome Variant Server CD40_000011 111/13006 1/8600 110/4406
?/? c.52-15C>T r.(=) p.(=) g.44750444C>T Copied from the Exome Variant Server CD40_000012 8/13006 8/8600 0/4406
?/? c.73G>T r.(?) p.(Ala25Ser) g.44750480G>T Copied from the Exome Variant Server CD40_000013 4/13006 0/8600 4/4406
?/? c.130+57C>T r.(=) p.(=) g.44750594C>T Copied from the Exome Variant Server CD40_000014 1/4566 0/3182 1/1384
?/? c.131-43T>A r.(=) p.(=) g.44750829T>A Copied from the Exome Variant Server CD40_000015 2/13006 0/8600 2/4406
?/? c.131-41G>C r.(=) p.(=) g.44750831G>C Copied from the Exome Variant Server CD40_000016 1/13006 0/8600 1/4406
?/? c.131-22C>G r.(=) p.(=) g.44750850C>G Copied from the Exome Variant Server CD40_000017 815/13006 457/8600 358/4406
?/? c.204A>G r.(=) p.(=) g.44750945A>G Copied from the Exome Variant Server CD40_000018 3/13006 0/8600 3/4406
?/? c.207C>A r.(?) p.(Asp69Glu) g.44750948C>A Copied from the Exome Variant Server CD40_000019 1/13006 1/8600 0/4406
?/? c.239A>G r.(?) p.(His80Arg) g.44750980A>G Copied from the Exome Variant Server CD40_000020 1/13006 1/8600 0/4406
?/? c.256+26G>A r.(=) p.(=) g.44751023G>A Copied from the Exome Variant Server CD40_000021 2/13006 0/8600 2/4406
?/? c.256+43A>G r.(=) p.(=) g.44751040A>G Copied from the Exome Variant Server CD40_000022 8/13006 6/8600 2/4406
?/? c.256+50C>G r.(=) p.(=) g.44751047C>G Copied from the Exome Variant Server CD40_000023 20/13006 18/8600 2/4406
?/? c.256+51G>A r.(=) p.(=) g.44751048G>A Copied from the Exome Variant Server CD40_000024 1/13006 1/8600 0/4406
?/? c.257-32G>A r.(=) p.(=) g.44751217G>A Copied from the Exome Variant Server CD40_000025 6/13006 6/8600 0/4406
?/? c.257-23C>T r.(=) p.(=) g.44751226C>T Copied from the Exome Variant Server CD40_000026 2/13006 2/8600 0/4406
?/? c.257-19_257-16del r.(=) p.(=) g.44751230_44751233del Copied from the Exome Variant Server CD40_000027 16/12518 8/8254 8/4264
?/? c.257-8C>T r.(=) p.(=) g.44751241C>T Copied from the Exome Variant Server CD40_000028 1/13006 0/8600 1/4406
?/? c.268C>T r.(?) p.(Arg90Trp) g.44751260C>T Copied from the Exome Variant Server CD40_000029 1/13006 1/8600 0/4406
?/? c.345C>T r.(=) p.(=) g.44751337C>T Copied from the Exome Variant Server CD40_000030 1/13006 1/8600 0/4406
?/? c.371C>T r.(?) p.(Ser124Leu) g.44751363C>T Copied from the Exome Variant Server CD40_000031 566/13006 6/8600 560/4406
?/? c.378G>T r.(=) p.(=) g.44751370G>T Copied from the Exome Variant Server CD40_000032 1/13006 1/8600 0/4406
?/? c.401T>C r.(?) p.(Ile134Thr) g.44751393T>C Copied from the Exome Variant Server CD40_000033 1/13006 1/8600 0/4406
?/? c.403+20A>G r.(=) p.(=) g.44751415A>G Copied from the Exome Variant Server CD40_000034 283/13006 242/8600 41/4406
?/? c.403+43G>A r.(=) p.(=) g.44751438G>A Copied from the Exome Variant Server CD40_000035 1/13006 1/8600 0/4406
?/? c.404-46G>A r.(=) p.(=) g.44751719G>A Copied from the Exome Variant Server CD40_000036 1/13006 1/8600 0/4406
?/? c.429C>T r.(=) p.(=) g.44751790C>T Copied from the Exome Variant Server CD40_000037 1/13006 1/8600 0/4406
?/? c.435C>T r.(=) p.(=) g.44751796C>T Copied from the Exome Variant Server CD40_000038 1/13006 1/8600 0/4406
?/? c.474C>T r.(=) p.(=) g.44751835C>T Copied from the Exome Variant Server CD40_000039 1/13006 0/8600 1/4406
?/? c.498-15C>T r.(=) p.(=) g.44755264C>T Copied from the Exome Variant Server CD40_000040 1/13006 0/8600 1/4406
?/? c.498C>G r.(?) p.(Ser166Arg) g.44755279C>G Copied from the Exome Variant Server CD40_000041 1/13006 0/8600 1/4406
?/? c.531A>G r.(=) p.(=) g.44755312A>G Copied from the Exome Variant Server CD40_000042 1/13006 1/8600 0/4406
?/? c.559+36G>C r.(=) p.(=) g.44755376G>C Copied from the Exome Variant Server CD40_000043 188/13006 165/8600 23/4406
?/? c.560-35G>A r.(=) p.(=) g.44756742G>A Copied from the Exome Variant Server CD40_000044 25/13006 1/8600 24/4406
?/? c.560-26G>A r.(=) p.(=) g.44756751G>A Copied from the Exome Variant Server CD40_000045 1/13006 1/8600 0/4406
?/? c.606C>T r.(=) p.(=) g.44756823C>T Copied from the Exome Variant Server CD40_000046 587/13006 7/8600 580/4406
?/? c.610A>G r.(?) p.(Ile204Val) g.44756827A>G Copied from the Exome Variant Server CD40_000047 3/13006 0/8600 3/4406
?/? c.646+27G>T r.(=) p.(=) g.44756890G>T Copied from the Exome Variant Server CD40_000048 133/13006 1/8600 132/4406
?/? c.646+28G>A r.(=) p.(=) g.44756891G>A Copied from the Exome Variant Server CD40_000049 1482/13006 980/8600 502/4406
?/? c.646+40A>T r.(=) p.(=) g.44756903A>T Copied from the Exome Variant Server CD40_000050 17/13006 0/8600 17/4406
?/? c.646+45A>C r.(=) p.(=) g.44756908A>C Copied from the Exome Variant Server CD40_000051 83/13006 66/8600 17/4406
?/? c.646+47C>T r.(=) p.(=) g.44756910C>T Copied from the Exome Variant Server CD40_000052 1/13006 1/8600 0/4406
?/? c.655G>A r.(?) p.(Ala219Thr) g.44756977G>A Copied from the Exome Variant Server CD40_000053 1/13006 1/8600 0/4406
?/? c.659A>G r.(?) p.(Lys220Arg) g.44756981A>G Copied from the Exome Variant Server CD40_000054 1/13006 0/8600 1/4406
?/? c.675+19C>T r.(=) p.(=) g.44757016C>T Copied from the Exome Variant Server CD40_000055 1/13006 1/8600 0/4406
?/? c.675+21C>T r.(=) p.(=) g.44757018C>T Copied from the Exome Variant Server CD40_000056 66/13006 1/8600 65/4406
?/? c.675+31T>C r.(=) p.(=) g.44757028T>C Copied from the Exome Variant Server CD40_000057 1/13006 1/8600 0/4406
?/? c.676-46C>T r.(=) p.(=) g.44757475C>T Copied from the Exome Variant Server CD40_000058 268/13004 227/8600 41/4404
?/? c.679C>G r.(?) p.(Pro227Ala) g.44757524C>G Copied from the Exome Variant Server CD40_000059 86/13006 69/8600 17/4406
?/? c.681C>T r.(=) p.(=) g.44757526C>T Copied from the Exome Variant Server CD40_000060 6/13006 6/8600 0/4406
?/? c.717C>T r.(=) p.(=) g.44757562C>T Copied from the Exome Variant Server CD40_000061 18/13006 0/8600 18/4406
?/? c.750A>G r.(=) p.(=) g.44757595A>G Copied from the Exome Variant Server CD40_000062 1/13006 1/8600 0/4406
?/? c.777A>G r.(=) p.(=) g.44757622A>G Copied from the Exome Variant Server CD40_000063 3/13006 0/8600 3/4406
?/? c.780G>A r.(=) p.(=) g.44757625G>A Copied from the Exome Variant Server CD40_000064 1/13006 1/8600 0/4406
?/? c.809G>A r.(?) p.(Arg270His) g.44757654G>A Copied from the Exome Variant Server CD40_000065 1/13006 1/8600 0/4406
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