Unique variants in gene SH3BGR

Information The variants shown are described using the NM_007341.2 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-43_-42del r.(=) p.(=) g.40823791_40823792del Copied from the Exome Variant Server SH3BGR_000001 3/12466 1/8210 2/4256
1 c.-3A>C r.(=) p.(=) g.40823831A>C Copied from the Exome Variant Server SH3BGR_000002 12/13004 11/8598 1/4406
1 c.3G>A r.? p.? g.40823836G>A Copied from the Exome Variant Server SH3BGR_000004 22/13004 0/8598 22/4406
1 c.27A>G r.(=) p.(=) g.40823860A>G Copied from the Exome Variant Server SH3BGR_000006 322/13006 297/8600 25/4406
1 c.40T>A r.(?) p.(Leu14Met) g.40823873T>A Copied from the Exome Variant Server SH3BGR_000008 1/13006 1/8600 0/4406
1 c.69C>G r.(?) p.(Asp23Glu) g.40823902C>G Copied from the Exome Variant Server SH3BGR_000011 2678/13006 1668/8600 1010/4406
1 c.81T>A r.(=) p.(=) g.40823914T>A Copied from the Exome Variant Server SH3BGR_000013 1/13006 0/8600 1/4406
1 c.82G>A r.(?) p.(Ala28Thr) g.40823915G>A Copied from the Exome Variant Server SH3BGR_000015 2/13006 0/8600 2/4406
1 c.122A>G r.(?) p.(Gln41Arg) g.40823955A>G Copied from the Exome Variant Server SH3BGR_000016 1/13006 1/8600 0/4406
1 c.126T>A r.(?) p.(Asp42Glu) g.40823959T>A Copied from the Exome Variant Server SH3BGR_000003 1/13006 0/8600 1/4406
1 c.136G>A r.(?) p.(Gly46Ser) g.40823969G>A Copied from the Exome Variant Server SH3BGR_000005 3/13006 1/8600 2/4406
1 c.138C>T r.(=) p.(=) g.40823971C>T Copied from the Exome Variant Server SH3BGR_000007 56/13006 1/8600 55/4406
1 c.139G>A r.(?) p.(Ala47Thr) g.40823972G>A Copied from the Exome Variant Server SH3BGR_000009 2/13006 2/8600 0/4406
1 c.148G>A N/A N/A g.40823981G>A Copied from the Exome Variant Server SH3BGR_000010 12716/13006 8336/8600 4380/4406
1 c.151_152del r.(?) p.(Arg51Glyfs*29) g.40823984_40823985del Copied from the Exome Variant Server SH3BGR_000012 2/12518 1/8254 1/4264
1 c.181A>C r.(?) p.(Thr61Pro) g.40824014A>C Copied from the Exome Variant Server SH3BGR_000014 4/13006 0/8600 4/4406
1 c.204G>A r.(=) p.(=) g.40824037G>A Copied from the Exome Variant Server SH3BGR_000017 1/13006 1/8600 0/4406
1 c.234G>A r.(=) p.(=) g.40824067G>A Copied from the Exome Variant Server SH3BGR_000018 1/13006 1/8600 0/4406
1 c.234+23C>A r.(=) p.(=) g.40824090C>A Copied from the Exome Variant Server SH3BGR_000019 2/13006 0/8600 2/4406
1 c.234+27C>G r.(=) p.(=) g.40824094C>G Copied from the Exome Variant Server SH3BGR_000020 1/13006 0/8600 1/4406
1 c.235-34A>G r.(=) p.(=) g.40834267A>G Copied from the Exome Variant Server SH3BGR_000021 1/13002 1/8598 0/4404
1 c.369A>G r.(=) p.(=) g.40834435A>G Copied from the Exome Variant Server SH3BGR_000022 1/13006 1/8600 0/4406
1 c.401A>G r.(?) p.(Asn134Ser) g.40834467A>G Copied from the Exome Variant Server SH3BGR_000023 1/13006 1/8600 0/4406
1 c.421-50T>C r.(=) p.(=) g.40847011T>C Copied from the Exome Variant Server SH3BGR_000024 4618/12988 2740/8590 1878/4398
1 c.421-10T>C r.(=) p.(=) g.40847051T>C Copied from the Exome Variant Server SH3BGR_000025 1/13006 1/8600 0/4406
1 c.422A>G r.(?) p.(Asp141Gly) g.40847062A>G Copied from the Exome Variant Server SH3BGR_000026 1/13006 0/8600 1/4406
1 c.484C>T r.(?) p.(Pro162Ser) g.40847124C>T Copied from the Exome Variant Server SH3BGR_000027 1/13006 0/8600 1/4406
1 c.501+23G>A r.(=) p.(=) g.40847164G>A Copied from the Exome Variant Server SH3BGR_000028 4/13006 4/8600 0/4406
1 c.501+55A>G r.(=) p.(=) g.40847196A>G Copied from the Exome Variant Server SH3BGR_000029 620/4566 425/3182 195/1384
1 c.502-39del r.(=) p.(=) g.40871710del Copied from the Exome Variant Server SH3BGR_000030 2/12518 2/8254 0/4264
1 c.502-38G>C r.(=) p.(=) g.40871711G>C Copied from the Exome Variant Server SH3BGR_000031 60/13006 0/8600 60/4406
1 c.502-37T>C r.(=) p.(=) g.40871712T>C Copied from the Exome Variant Server SH3BGR_000032 5/13006 0/8600 5/4406
1 c.502-28T>G r.(=) p.(=) g.40871721T>G Copied from the Exome Variant Server SH3BGR_000033 1/13006 0/8600 1/4406
1 c.502-23T>C r.(=) p.(=) g.40871726T>C Copied from the Exome Variant Server SH3BGR_000034 462/13006 290/8600 172/4406
1 c.502-17G>A r.(=) p.(=) g.40871732G>A Copied from the Exome Variant Server SH3BGR_000035 1/13006 1/8600 0/4406
1 c.550G>T r.(?) p.(Gly184Cys) g.40871797G>T Copied from the Exome Variant Server SH3BGR_000036 35/13006 0/8600 35/4406
1 c.563T>C r.(?) p.(Val188Ala) g.40871810T>C Copied from the Exome Variant Server SH3BGR_000037 6582/13006 4599/8600 1983/4406
1 c.574C>T r.(?) p.(Pro192Ser) g.40871821C>T Copied from the Exome Variant Server SH3BGR_000038 1/13006 1/8600 0/4406
1 c.594+11G>A r.(=) p.(=) g.40871852G>A Copied from the Exome Variant Server SH3BGR_000039 1/13006 0/8600 1/4406
1 c.594+40C>T r.(=) p.(=) g.40871881C>T Copied from the Exome Variant Server SH3BGR_000040 1/13006 0/8600 1/4406
1 c.594+44T>C r.(=) p.(=) g.40871885T>C Copied from the Exome Variant Server SH3BGR_000041 1/13006 1/8600 0/4406
1 c.595-16G>T r.(=) p.(=) g.40880909G>T Copied from the Exome Variant Server SH3BGR_000042 1/13006 1/8600 0/4406
1 c.595_597del r.(?) p.(Glu201del) g.40880925_40880927del Copied from the Exome Variant Server SH3BGR_000043 2/12518 2/8254 0/4264
1 c.624+9G>T r.(=) p.(=) g.40880963G>T Copied from the Exome Variant Server SH3BGR_000044 1/13006 1/8600 0/4406
1 c.624+10A>C r.(=) p.(=) g.40880964A>C Copied from the Exome Variant Server SH3BGR_000045 1/13006 0/8600 1/4406
1 c.625-45G>A r.(=) p.(=) g.40883562G>A Copied from the Exome Variant Server SH3BGR_000046 1/13006 0/8600 1/4406
1 c.625-42C>A r.(=) p.(=) g.40883565C>A Copied from the Exome Variant Server SH3BGR_000047 278/13006 1/8600 277/4406
1 c.626C>T r.(?) p.(Thr209Met) g.40883608C>T Copied from the Exome Variant Server SH3BGR_000048 20/13006 1/8600 19/4406
1 c.659A>C r.(?) p.(Glu220Ala) g.40883641A>C Copied from the Exome Variant Server SH3BGR_000049 2/13006 0/8600 2/4406
1 c.660A>G r.(=) p.(=) g.40883642A>G Copied from the Exome Variant Server SH3BGR_000050 1/13006 0/8600 1/4406
1 c.664G>A r.(?) p.(Glu222Lys) g.40883646G>A Copied from the Exome Variant Server SH3BGR_000051 100/13006 0/8600 100/4406
1 c.689_690insAGA r.(?) p.(Glu232dup) g.40883671_40883672insAGA Copied from the Exome Variant Server SH3BGR_000052 6901/12518 4701/8254 2200/4264
1 c.708C>T r.(=) p.(=) g.40883690C>T Copied from the Exome Variant Server SH3BGR_000053 3/13006 0/8600 3/4406
1 c.*10T>C r.(=) p.(=) g.40883712T>C Copied from the Exome Variant Server SH3BGR_000054 1199/13006 457/8600 742/4406
1 c.*32C>T r.(=) p.(=) g.40883734C>T Copied from the Exome Variant Server SH3BGR_000055 20/13002 0/8596 20/4406
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