All transcript variants in gene NRBP1

Information The variants shown are described using the NM_013392.2 transcript reference sequence.

98 entries on 1 page. Showing entries 1 - 98.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.108C>T r.(=) p.(=) g.27656248C>T Copied from the Exome Variant Server NRBP1_000011 2/13006 0/8600 2/4406
?/? c.130_132del r.(?) p.(Glu48del) g.27656270_27656272del Copied from the Exome Variant Server NRBP1_000001 6/12520 2/8254 4/4266
?/? c.177G>A r.(=) p.(=) g.27656317G>A Copied from the Exome Variant Server NRBP1_000002 1/13006 0/8600 1/4406
?/? c.198G>A r.(=) p.(=) g.27656338G>A Copied from the Exome Variant Server NRBP1_000003 6/13006 6/8600 0/4406
?/? c.201G>A r.(=) p.(=) g.27656341G>A Copied from the Exome Variant Server NRBP1_000004 1/13006 1/8600 0/4406
?/? c.210+15C>T r.(=) p.(=) g.27656365C>T Copied from the Exome Variant Server NRBP1_000005 1/13006 0/8600 1/4406
?/? c.210+46G>T r.(=) p.(=) g.27656396G>T Copied from the Exome Variant Server NRBP1_000006 1/13006 1/8600 0/4406
?/? c.211-45T>C r.(=) p.(=) g.27656495T>C Copied from the Exome Variant Server NRBP1_000007 1/13006 0/8600 1/4406
?/? c.249C>T r.(=) p.(=) g.27656578C>T Copied from the Exome Variant Server NRBP1_000008 2/13006 2/8600 0/4406
?/? c.314A>G r.(?) p.(Lys105Arg) g.27656643A>G Copied from the Exome Variant Server NRBP1_000009 1/13006 0/8600 1/4406
?/? c.334-49A>G r.(=) p.(=) g.27656807A>G Copied from the Exome Variant Server NRBP1_000010 1/13006 1/8600 0/4406
?/? c.334-34_334-33insA r.(=) p.(=) g.27656822_27656823insA Copied from the Exome Variant Server NRBP1_000012 7069/12520 3599/8254 3470/4266
?/? c.334-12C>G r.(=) p.(=) g.27656844C>G Copied from the Exome Variant Server NRBP1_000013 1/13006 0/8600 1/4406
?/? c.370T>C r.(=) p.(=) g.27656892T>C Copied from the Exome Variant Server NRBP1_000014 3/13006 3/8600 0/4406
?/? c.430G>A r.(?) p.(Ala144Thr) g.27656952G>A Copied from the Exome Variant Server NRBP1_000015 1/13006 0/8600 1/4406
?/? c.435+30C>G r.(=) p.(=) g.27656987C>G Copied from the Exome Variant Server NRBP1_000016 2/13004 1/8600 1/4404
?/? c.436-47G>A r.(=) p.(=) g.27657291G>A Copied from the Exome Variant Server NRBP1_000017 1/12982 0/8594 1/4388
?/? c.436-34A>C r.(=) p.(=) g.27657304A>C Copied from the Exome Variant Server NRBP1_000018 2/12996 0/8598 2/4398
?/? c.436-3C>T r.spl? p.? g.27657335C>T Copied from the Exome Variant Server NRBP1_000019 61/13006 58/8600 3/4406
?/? c.525+12G>A r.(=) p.(=) g.27657439G>A Copied from the Exome Variant Server NRBP1_000020 1/13004 0/8598 1/4406
?/? c.526-45A>C r.(=) p.(=) g.27657544A>C Copied from the Exome Variant Server NRBP1_000021 1/13006 0/8600 1/4406
?/? c.566+37C>G r.(=) p.(=) g.27657666C>G Copied from the Exome Variant Server NRBP1_000022 1/13006 1/8600 0/4406
?/? c.566+52C>T r.(=) p.(=) g.27657681C>T Copied from the Exome Variant Server NRBP1_000023 527/7272 461/4618 66/2654
?/? c.567-10G>A r.(=) p.(=) g.27657990G>A Copied from the Exome Variant Server NRBP1_000024 3/13006 0/8600 3/4406
?/? c.661+6G>A r.(=) p.(=) g.27658100G>A Copied from the Exome Variant Server NRBP1_000025 1/13006 1/8600 0/4406
?/? c.661+36C>T r.(=) p.(=) g.27658130C>T Copied from the Exome Variant Server NRBP1_000026 17/13006 14/8600 3/4406
?/? c.662-48A>G r.(=) p.(=) g.27659572A>G Copied from the Exome Variant Server NRBP1_000027 1/13006 1/8600 0/4406
?/? c.662-27G>T r.(=) p.(=) g.27659593G>T Copied from the Exome Variant Server NRBP1_000028 1/13006 0/8600 1/4406
?/? c.662-25T>C r.(=) p.(=) g.27659595T>C Copied from the Exome Variant Server NRBP1_000029 1/13006 0/8600 1/4406
?/? c.662-5C>G r.spl? p.? g.27659615C>G Copied from the Exome Variant Server NRBP1_000030 1/13006 1/8600 0/4406
?/? c.675T>C r.(=) p.(=) g.27659633T>C Copied from the Exome Variant Server NRBP1_000031 2/13006 1/8600 1/4406
?/? c.678C>A r.(=) p.(=) g.27659636C>A Copied from the Exome Variant Server NRBP1_000032 1/13006 1/8600 0/4406
?/? c.745+26T>C r.(=) p.(=) g.27659729T>C Copied from the Exome Variant Server NRBP1_000033 1/13006 1/8600 0/4406
?/? c.745+48C>T r.(=) p.(=) g.27659751C>T Copied from the Exome Variant Server NRBP1_000034 1/13006 1/8600 0/4406
?/? c.745+54A>G r.(=) p.(=) g.27659757A>G Copied from the Exome Variant Server NRBP1_000035 1/4566 0/3182 1/1384
?/? c.746-45G>A r.(=) p.(=) g.27659869G>A Copied from the Exome Variant Server NRBP1_000036 29/13006 0/8600 29/4406
?/? c.746-38A>C r.(=) p.(=) g.27659876A>C Copied from the Exome Variant Server NRBP1_000037 2/13006 0/8600 2/4406
?/? c.746-4C>G r.spl? p.? g.27659910C>G Copied from the Exome Variant Server NRBP1_000038 7/13006 7/8600 0/4406
?/? c.762A>G r.(=) p.(=) g.27659930A>G Copied from the Exome Variant Server NRBP1_000039 1/13006 1/8600 0/4406
?/? c.780C>T r.(=) p.(=) g.27659948C>T Copied from the Exome Variant Server NRBP1_000040 1/13006 0/8600 1/4406
?/? c.804+20G>C r.(=) p.(=) g.27659992G>C Copied from the Exome Variant Server NRBP1_000041 355/13004 2/8598 353/4406
?/? c.804+21G>T r.(=) p.(=) g.27659993G>T Copied from the Exome Variant Server NRBP1_000042 16/13004 12/8598 4/4406
?/? c.805-27del r.(=) p.(=) g.27660102del Copied from the Exome Variant Server NRBP1_000043 320/12520 198/8254 122/4266
?/? c.810A>G r.(=) p.(=) g.27660134A>G Copied from the Exome Variant Server NRBP1_000044 22/13006 0/8600 22/4406
?/? c.879G>C r.(?) p.(Gln293His) g.27660203G>C Copied from the Exome Variant Server NRBP1_000045 1/13006 0/8600 1/4406
?/? c.903+11_903+16del r.(=) p.(=) g.27660238_27660243del Copied from the Exome Variant Server NRBP1_000046 1/12520 0/8254 1/4266
?/? c.903+23_903+25del r.(=) p.(=) g.27660250_27660252del Copied from the Exome Variant Server NRBP1_000047 2/12520 0/8254 2/4266
?/? c.903+42A>G r.(=) p.(=) g.27660269A>G Copied from the Exome Variant Server NRBP1_000048 2/13006 0/8600 2/4406
?/? c.903+45G>C r.(=) p.(=) g.27660272G>C Copied from the Exome Variant Server NRBP1_000050 3/13006 2/8600 1/4406
?/? c.904-48C>A r.(=) p.(=) g.27662585C>A Copied from the Exome Variant Server NRBP1_000052 2/13006 2/8600 0/4406
?/? c.904-47T>G r.(=) p.(=) g.27662586T>G Copied from the Exome Variant Server NRBP1_000054 81/13006 0/8600 81/4406
?/? c.941G>A r.(?) p.(Arg314His) g.27662670G>A Copied from the Exome Variant Server NRBP1_000049 1/13006 1/8600 0/4406
?/? c.996G>A r.(=) p.(=) g.27662725G>A Copied from the Exome Variant Server NRBP1_000051 2/13006 0/8600 2/4406
?/? c.1011G>A r.(=) p.(=) g.27662740G>A Copied from the Exome Variant Server NRBP1_000053 1/13006 0/8600 1/4406
?/? c.1022T>C r.(?) p.(Ile341Thr) g.27662751T>C Copied from the Exome Variant Server NRBP1_000055 2/13006 1/8600 1/4406
?/? c.1030C>T r.(?) p.(His344Tyr) g.27662759C>T Copied from the Exome Variant Server NRBP1_000056 1/13006 0/8600 1/4406
?/? c.1035A>G r.(=) p.(=) g.27662764A>G Copied from the Exome Variant Server NRBP1_000057 5/13006 4/8600 1/4406
?/? c.1036+15C>T r.(=) p.(=) g.27662780C>T Copied from the Exome Variant Server NRBP1_000058 1/13006 1/8600 0/4406
?/? c.1036+21_1036+22del r.(=) p.(=) g.27662786_27662787del Copied from the Exome Variant Server NRBP1_000059 2/12520 0/8254 2/4266
?/? c.1068C>T r.(=) p.(=) g.27663301C>T Copied from the Exome Variant Server NRBP1_000060 2/13006 1/8600 1/4406
?/? c.1093G>A r.(?) p.(Val365Ile) g.27663326G>A Copied from the Exome Variant Server NRBP1_000061 216/13006 5/8600 211/4406
?/? c.1131A>G r.(=) p.(=) g.27663364A>G Copied from the Exome Variant Server NRBP1_000062 1/13006 1/8600 0/4406
?/? c.1142+41G>T r.(=) p.(=) g.27663416G>T Copied from the Exome Variant Server NRBP1_000063 6231/13006 3305/8600 2926/4406
?/? c.1142+43C>A r.(=) p.(=) g.27663418C>A Copied from the Exome Variant Server NRBP1_000064 1/13006 1/8600 0/4406
?/? c.1142+47T>G r.(=) p.(=) g.27663422T>G Copied from the Exome Variant Server NRBP1_000065 1/13006 1/8600 0/4406
?/? c.1143-48A>G r.(=) p.(=) g.27663471A>G Copied from the Exome Variant Server NRBP1_000067 2/13006 2/8600 0/4406
?/? c.1143-6G>A r.(=) p.(=) g.27663513G>A Copied from the Exome Variant Server NRBP1_000069 1/13006 1/8600 0/4406
?/? c.1143-3C>T r.spl? p.? g.27663516C>T Copied from the Exome Variant Server NRBP1_000071 3/13006 0/8600 3/4406
?/? c.1164G>A r.(=) p.(=) g.27663540G>A Copied from the Exome Variant Server NRBP1_000073 1/13006 1/8600 0/4406
?/? c.1193+13T>C r.(=) p.(=) g.27663582T>C Copied from the Exome Variant Server NRBP1_000075 1/13006 0/8600 1/4406
?/? c.1194-41C>T r.(=) p.(=) g.27663631C>T Copied from the Exome Variant Server NRBP1_000077 1/13006 0/8600 1/4406
?/? c.1194-21C>G r.(=) p.(=) g.27663651C>G Copied from the Exome Variant Server NRBP1_000079 1/13006 1/8600 0/4406
?/? c.1194-4C>T r.spl? p.? g.27663668C>T Copied from the Exome Variant Server NRBP1_000081 1/13006 0/8600 1/4406
?/? c.1194-3C>T r.spl? p.? g.27663669C>T Copied from the Exome Variant Server NRBP1_000083 2/13006 2/8600 0/4406
?/? c.1196A>G r.(?) p.(Asn399Ser) g.27663674A>G Copied from the Exome Variant Server NRBP1_000085 1/13006 0/8600 1/4406
?/? c.1232G>A r.(?) p.(Arg411Gln) g.27663710G>A Copied from the Exome Variant Server NRBP1_000087 1/13006 1/8600 0/4406
?/? c.1329+9T>A r.(=) p.(=) g.27663816T>A Copied from the Exome Variant Server NRBP1_000066 1/13006 0/8600 1/4406
?/? c.1329+29C>G r.(=) p.(=) g.27663836C>G Copied from the Exome Variant Server NRBP1_000068 1/13006 0/8600 1/4406
?/? c.1329+42_1329+44del r.(=) p.(=) g.27663849_27663851del Copied from the Exome Variant Server NRBP1_000070 1/12520 0/8254 1/4266
?/? c.1330-39T>C r.(=) p.(=) g.27663955T>C Copied from the Exome Variant Server NRBP1_000072 1/13006 1/8600 0/4406
?/? c.1330-6C>G r.(=) p.(=) g.27663988C>G Copied from the Exome Variant Server NRBP1_000074 1/13006 0/8600 1/4406
?/? c.1332G>A r.(=) p.(=) g.27663996G>A Copied from the Exome Variant Server NRBP1_000076 4/13006 4/8600 0/4406
?/? c.1383C>T r.(=) p.(=) g.27664047C>T Copied from the Exome Variant Server NRBP1_000078 2/13006 1/8600 1/4406
?/? c.1447+22_1447+28del r.(=) p.(=) g.27664219_27664225del Copied from the Exome Variant Server NRBP1_000080 17/12520 0/8254 17/4266
?/? c.1448-35C>T r.(=) p.(=) g.27664399C>T Copied from the Exome Variant Server NRBP1_000082 2/13006 1/8600 1/4406
?/? c.1448-20C>T r.(=) p.(=) g.27664414C>T Copied from the Exome Variant Server NRBP1_000084 1/13006 1/8600 0/4406
?/? c.1469C>T r.(?) p.(Ala490Val) g.27664455C>T Copied from the Exome Variant Server NRBP1_000086 1/13006 0/8600 1/4406
?/? c.1503+5G>A r.spl? p.? g.27664494G>A Copied from the Exome Variant Server NRBP1_000088 1/13006 1/8600 0/4406
?/? c.1504-25A>G r.(=) p.(=) g.27664550A>G Copied from the Exome Variant Server NRBP1_000089 2/13006 0/8600 2/4406
?/? c.1504-3C>A r.spl? p.? g.27664572C>A Copied from the Exome Variant Server NRBP1_000090 2/13006 0/8600 2/4406
?/? c.1511A>G r.(?) p.(Gln504Arg) g.27664582A>G Copied from the Exome Variant Server NRBP1_000091 1/13006 0/8600 1/4406
?/? c.1517G>A r.(?) p.(Arg506Gln) g.27664588G>A Copied from the Exome Variant Server NRBP1_000092 5/13006 1/8600 4/4406
?/? c.1574C>T r.(?) p.(Thr525Ile) g.27664645C>T Copied from the Exome Variant Server NRBP1_000093 1/13006 1/8600 0/4406
?/? c.*9C>T r.(=) p.(=) g.27664688C>T Copied from the Exome Variant Server NRBP1_000094 1/13006 1/8600 0/4406
?/? c.*28C>T r.(=) p.(=) g.27664707C>T Copied from the Exome Variant Server NRBP1_000095 1/13006 1/8600 0/4406
?/? c.*29G>A r.(=) p.(=) g.27664708G>A Copied from the Exome Variant Server NRBP1_000096 4/13006 2/8600 2/4406
?/? c.*32G>A r.(=) p.(=) g.27664711G>A Copied from the Exome Variant Server NRBP1_000097 1/13006 1/8600 0/4406
?/? c.*48G>A r.(=) p.(=) g.27664727G>A Copied from the Exome Variant Server NRBP1_000098 1/13006 1/8600 0/4406
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