Unique variants in gene RBBP7

Information The variants shown are described using the NM_002893.3 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.-27G>A r.(=) p.(=) g.16888203C>T Copied from the Exome Variant Server RBBP7_000055 1/10357 1/6596 0/3761
1 c.-5G>A r.(=) p.(=) g.16888181C>T Copied from the Exome Variant Server RBBP7_000053 1/10404 0/6622 1/3782
1 c.16+54del r.(=) p.(=) g.16888107del Copied from the Exome Variant Server RBBP7_000051 16/724 6/475 10/249
1 c.17-50C>G r.(=) p.(=) g.16887393G>C Copied from the Exome Variant Server RBBP7_000049 1/10563 0/6728 1/3835
1 c.17-41A>G r.(=) p.(=) g.16887384T>C Copied from the Exome Variant Server RBBP7_000048 2/10563 0/6728 2/3835
1 c.17-34C>T r.(=) p.(=) g.16887377G>A Copied from the Exome Variant Server RBBP7_000054 1/10563 1/6728 0/3835
1 c.17-32A>T r.(=) p.(=) g.16887375T>A Copied from the Exome Variant Server RBBP7_000052 1/10563 1/6728 0/3835
1 c.17-29T>C r.(=) p.(=) g.16887372A>G Copied from the Exome Variant Server RBBP7_000050 1/10563 1/6728 0/3835
1 c.17-25C>T r.(=) p.(=) g.16887368G>A Copied from the Exome Variant Server RBBP7_000047 1/10563 1/6728 0/3835
1 c.66C>A r.(=) p.(=) g.16887294G>T Copied from the Exome Variant Server RBBP7_000046 1/10563 0/6728 1/3835
1 c.161+44C>T r.(=) p.(=) g.16887155G>A Copied from the Exome Variant Server RBBP7_000045 1/10563 0/6728 1/3835
1 c.175G>C r.(?) p.(Asp59His) g.16881210C>G Copied from the Exome Variant Server RBBP7_000044 1/10563 1/6728 0/3835
1 c.260A>G r.(?) p.(Asn87Ser) g.16881125T>C Copied from the Exome Variant Server RBBP7_000043 1/10563 1/6728 0/3835
1 c.307+34A>G r.(=) p.(=) g.16881044T>C Copied from the Exome Variant Server RBBP7_000042 1/10563 1/6728 0/3835
1 c.308-39C>T r.(=) p.(=) g.16877011G>A Copied from the Exome Variant Server RBBP7_000041 43/10563 39/6728 4/3835
1 c.308-21_308-20del r.(=) p.(=) g.16876992_16876993del Copied from the Exome Variant Server RBBP7_000040 220/10205 160/6484 60/3721
1 c.308-21_308-20dup r.(=) p.(=) g.16876992_16876993dup Copied from the Exome Variant Server RBBP7_000039 38/10205 4/6484 34/3721
1 c.308-11C>T r.(=) p.(=) g.16876983G>A Copied from the Exome Variant Server RBBP7_000038 1/10563 0/6728 1/3835
1 c.308-8C>T r.(=) p.(=) g.16876980G>A Copied from the Exome Variant Server RBBP7_000037 4648/10563 2753/6728 1895/3835
1 c.366C>T r.(=) p.(=) g.16876914G>A Copied from the Exome Variant Server RBBP7_000036 3/10563 0/6728 3/3835
1 c.480A>G r.(=) p.(=) g.16876800T>C Copied from the Exome Variant Server RBBP7_000035 1/10563 1/6728 0/3835
1 c.482-12A>C r.(=) p.(=) g.16875844T>G Copied from the Exome Variant Server RBBP7_000034 2/10563 0/6728 2/3835
1 c.597+12A>C r.(=) p.(=) g.16875705T>G Copied from the Exome Variant Server RBBP7_000033 217/10563 2/6728 215/3835
1 c.597+34A>G r.(=) p.(=) g.16875683T>C Copied from the Exome Variant Server RBBP7_000032 1/10563 1/6728 0/3835
1 c.598-39T>C r.(=) p.(=) g.16872004A>G Copied from the Exome Variant Server RBBP7_000031 1/10563 1/6728 0/3835
1 c.598-10_598-8del r.(=) p.(=) g.16871973_16871975del Copied from the Exome Variant Server RBBP7_000030 740/10205 616/6484 124/3721
1 c.621C>T r.(=) p.(=) g.16871942G>A Copied from the Exome Variant Server RBBP7_000029 1/10563 1/6728 0/3835
1 c.672C>A r.(=) p.(=) g.16871891G>T Copied from the Exome Variant Server RBBP7_000028 1/10563 1/6728 0/3835
1 c.705C>T r.(=) p.(=) g.16871858G>A Copied from the Exome Variant Server RBBP7_000027 1/10563 0/6728 1/3835
1 c.714C>T r.(=) p.(=) g.16871849G>A Copied from the Exome Variant Server RBBP7_000026 1/10563 0/6728 1/3835
1 c.759-26C>T r.(=) p.(=) g.16871024G>A Copied from the Exome Variant Server RBBP7_000025 4/10563 0/6728 4/3835
1 c.843T>A r.(?) p.(Asn281Lys) g.16870914A>T Copied from the Exome Variant Server RBBP7_000024 1/10563 0/6728 1/3835
1 c.885+6G>T r.(=) p.(=) g.16870866C>A Copied from the Exome Variant Server RBBP7_000023 443/10563 2/6728 441/3835
1 c.885+48T>C r.(=) p.(=) g.16870824A>G Copied from the Exome Variant Server RBBP7_000022 1/10563 0/6728 1/3835
1 c.886-46C>G r.(=) p.(=) g.16870797G>C Copied from the Exome Variant Server RBBP7_000021 1/10561 0/6726 1/3835
1 c.963+44C>A r.(=) p.(=) g.16870630G>T Copied from the Exome Variant Server RBBP7_000020 1/10563 0/6728 1/3835
1 c.963+45C>T r.(=) p.(=) g.16870629G>A Copied from the Exome Variant Server RBBP7_000019 1/10563 1/6728 0/3835
1 c.963+46A>G r.(=) p.(=) g.16870628T>C Copied from the Exome Variant Server RBBP7_000018 1/10563 0/6728 1/3835
1 c.964-12A>G r.(=) p.(=) g.16870257T>C Copied from the Exome Variant Server RBBP7_000017 1/10563 1/6728 0/3835
1 c.1041-32T>C r.(=) p.(=) g.16867456A>G Copied from the Exome Variant Server RBBP7_000016 1/10563 1/6728 0/3835
1 c.1041-23C>G r.(=) p.(=) g.16867447G>C Copied from the Exome Variant Server RBBP7_000015 2/10563 0/6728 2/3835
1 c.1041-22G>A r.(=) p.(=) g.16867446C>T Copied from the Exome Variant Server RBBP7_000014 10/10563 0/6728 10/3835
1 c.1089A>G r.(=) p.(=) g.16867376T>C Copied from the Exome Variant Server RBBP7_000013 1/10563 1/6728 0/3835
1 c.1098+42T>C r.(=) p.(=) g.16867325A>G Copied from the Exome Variant Server RBBP7_000012 1/10563 0/6728 1/3835
1 c.1098+67C>T r.(=) p.(=) g.16867300G>A Copied from the Exome Variant Server RBBP7_000011 74/3600 0/2391 74/1209
1 c.1099-45A>G r.(=) p.(=) g.16864106T>C Copied from the Exome Variant Server RBBP7_000010 2/10555 2/6720 0/3835
1 c.1206A>G r.(=) p.(=) g.16863954T>C Copied from the Exome Variant Server RBBP7_000009 1/10563 1/6728 0/3835
1 c.1209+43G>A r.(=) p.(=) g.16863908C>T Copied from the Exome Variant Server RBBP7_000008 8/10563 8/6728 0/3835
1 c.1210-29T>A r.(=) p.(=) g.16863255A>T Copied from the Exome Variant Server RBBP7_000007 2/10563 0/6728 2/3835
1 c.1225_1227del r.(?) p.(Asn409del) g.16863209_16863211del Copied from the Exome Variant Server RBBP7_000006 1/10205 1/6484 0/3721
1 c.1242T>A r.(?) p.(Asp414Glu) g.16863194A>T Copied from the Exome Variant Server RBBP7_000005 1/10563 0/6728 1/3835
1 c.1266A>T r.(=) p.(=) g.16863170T>A Copied from the Exome Variant Server RBBP7_000004 28/10563 0/6728 28/3835
1 c.1268A>G r.(?) p.(Gln423Arg) g.16863168T>C Copied from the Exome Variant Server RBBP7_000003 1/10563 1/6728 0/3835
1 c.*23C>T r.(=) p.(=) g.16863135G>A Copied from the Exome Variant Server RBBP7_000002 8/10563 0/6728 8/3835
1 c.*22_*27del r.(=) p.(=) g.16863131_16863136del Copied from the Exome Variant Server RBBP7_000001 48/10205 32/6484 16/3721
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