All transcript variants in gene POLR2C

Information The variants shown are described using the NM_032940.2 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-31C>T r.(=) p.(=) g.57496606C>T Copied from the Exome Variant Server POLR2C_000001 1/12942 1/8574 0/4368
?/? c.-25C>T r.(=) p.(=) g.57496612C>T Copied from the Exome Variant Server POLR2C_000002 51/12962 1/8588 50/4374
?/? c.-21G>C r.(=) p.(=) g.57496616G>C Copied from the Exome Variant Server POLR2C_000003 3/12958 3/8586 0/4372
?/? c.-12C>T r.(=) p.(=) g.57496625C>T Copied from the Exome Variant Server POLR2C_000004 1/12976 1/8594 0/4382
?/? c.-9C>T r.(=) p.(=) g.57496628C>T Copied from the Exome Variant Server POLR2C_000005 1/12978 0/8598 1/4380
?/? c.42C>T r.(=) p.(=) g.57496678C>T Copied from the Exome Variant Server POLR2C_000006 3/12994 0/8598 3/4396
?/? c.45T>A r.(=) p.(=) g.57496681T>A Copied from the Exome Variant Server POLR2C_000007 1/12994 1/8598 0/4396
?/? c.48C>T r.(=) p.(=) g.57496684C>T Copied from the Exome Variant Server POLR2C_000008 1/12996 1/8600 0/4396
?/? c.86+26G>T r.(=) p.(=) g.57496748G>T Copied from the Exome Variant Server POLR2C_000009 435/12960 376/8578 59/4382
?/? c.87-58C>T r.(=) p.(=) g.57496883C>T Copied from the Exome Variant Server POLR2C_000010 2/4566 0/3182 2/1384
?/? c.87-52C>T r.(=) p.(=) g.57496889C>T Copied from the Exome Variant Server POLR2C_000011 2/10300 0/7164 2/3136
?/? c.87-23C>A r.(=) p.(=) g.57496918C>A Copied from the Exome Variant Server POLR2C_000012 1/12996 1/8600 0/4396
?/? c.87-14T>C r.(=) p.(=) g.57496927T>C Copied from the Exome Variant Server POLR2C_000013 241/12996 182/8600 59/4396
?/? c.87-10G>C r.(=) p.(=) g.57496931G>C Copied from the Exome Variant Server POLR2C_000014 3346/12996 1314/8600 2032/4396
?/? c.134T>A r.(?) p.(Ile45Lys) g.57496988T>A Copied from the Exome Variant Server POLR2C_000015 1/12996 1/8600 0/4396
?/? c.136+3A>G r.spl? p.? g.57496993A>G Copied from the Exome Variant Server POLR2C_000016 2/12996 0/8600 2/4396
?/? c.136+9C>A r.(=) p.(=) g.57496999C>A Copied from the Exome Variant Server POLR2C_000017 1/12996 0/8600 1/4396
?/? c.136+20C>T r.(=) p.(=) g.57497010C>T Copied from the Exome Variant Server POLR2C_000018 185/12996 166/8600 19/4396
?/? c.137-48A>T r.(=) p.(=) g.57499817A>T Copied from the Exome Variant Server POLR2C_000019 2/12996 0/8600 2/4396
?/? c.137-24A>G r.(=) p.(=) g.57499841A>G Copied from the Exome Variant Server POLR2C_000020 7247/12996 5041/8600 2206/4396
?/? c.164A>G r.(?) p.(Asn55Ser) g.57499892A>G Copied from the Exome Variant Server POLR2C_000021 1/12996 1/8600 0/4396
?/? c.174T>C r.(=) p.(=) g.57499902T>C Copied from the Exome Variant Server POLR2C_000022 10596/12996 6503/8600 4093/4396
?/? c.202C>T r.(?) p.(Leu68Phe) g.57499930C>T Copied from the Exome Variant Server POLR2C_000023 1/12996 1/8600 0/4396
?/? c.204T>G r.(=) p.(=) g.57499932T>G Copied from the Exome Variant Server POLR2C_000024 1/12996 1/8600 0/4396
?/? c.205+43G>T r.(=) p.(=) g.57499976G>T Copied from the Exome Variant Server POLR2C_000025 1/12996 1/8600 0/4396
?/? c.205+65C>T r.(=) p.(=) g.57499998C>T Copied from the Exome Variant Server POLR2C_000026 1/4566 0/3182 1/1384
?/? c.206-11_206-10insT r.(=) p.(=) g.57500076_57500077insT Copied from the Exome Variant Server POLR2C_000027 1/12510 0/8248 1/4262
?/? c.206-3C>T r.spl? p.? g.57500084C>T Copied from the Exome Variant Server POLR2C_000028 4/12996 0/8600 4/4396
?/? c.294G>A r.(=) p.(=) g.57503112G>A Copied from the Exome Variant Server POLR2C_000029 1/12996 1/8600 0/4396
?/? c.310G>A r.(?) p.(Asp104Asn) g.57503128G>A Copied from the Exome Variant Server POLR2C_000030 1/12996 0/8600 1/4396
?/? c.316C>T r.(?) p.(Arg106Trp) g.57503134C>T Copied from the Exome Variant Server POLR2C_000031 16/12996 1/8600 15/4396
?/? c.373C>T r.(?) p.(Pro125Ser) g.57503191C>T Copied from the Exome Variant Server POLR2C_000032 1/12996 1/8600 0/4396
?/? c.387G>A r.(=) p.(=) g.57503205G>A Copied from the Exome Variant Server POLR2C_000033 11/12996 0/8600 11/4396
?/? c.387+8C>T r.(=) p.(=) g.57503213C>T Copied from the Exome Variant Server POLR2C_000034 6555/12996 4739/8600 1816/4396
?/? c.387+22C>A r.(=) p.(=) g.57503227C>A Copied from the Exome Variant Server POLR2C_000035 1/12996 0/8600 1/4396
?/? c.387+23del r.(=) p.(=) g.57503228del Copied from the Exome Variant Server POLR2C_000036 4/12518 4/8254 0/4264
?/? c.388-64T>C r.(=) p.(=) g.57503558T>C Copied from the Exome Variant Server POLR2C_000037 1/4566 1/3182 0/1384
?/? c.388-26A>G r.(=) p.(=) g.57503596A>G Copied from the Exome Variant Server POLR2C_000038 1/12996 0/8600 1/4396
?/? c.397C>T r.(?) p.(Arg133Trp) g.57503631C>T Copied from the Exome Variant Server POLR2C_000039 1/12996 1/8600 0/4396
?/? c.399G>A r.(=) p.(=) g.57503633G>A Copied from the Exome Variant Server POLR2C_000040 1/12996 1/8600 0/4396
?/? c.410A>G r.(?) p.(Asn137Ser) g.57503644A>G Copied from the Exome Variant Server POLR2C_000041 1/12996 1/8600 0/4396
?/? c.439+24G>A r.(=) p.(=) g.57503697G>A Copied from the Exome Variant Server POLR2C_000042 2/12996 1/8600 1/4396
?/? c.439+37G>A r.(=) p.(=) g.57503710G>A Copied from the Exome Variant Server POLR2C_000043 2/12996 0/8600 2/4396
?/? c.439+64G>A r.(=) p.(=) g.57503737G>A Copied from the Exome Variant Server POLR2C_000044 79/4566 2/3182 77/1384
?/? c.440-26_440-23del r.(=) p.(=) g.57503847_57503850del Copied from the Exome Variant Server POLR2C_000045 5/12518 4/8254 1/4264
?/? c.440-25G>A r.(=) p.(=) g.57503848G>A Copied from the Exome Variant Server POLR2C_000046 1/12996 1/8600 0/4396
?/? c.480A>G r.(=) p.(=) g.57503913A>G Copied from the Exome Variant Server POLR2C_000047 1/12996 1/8600 0/4396
?/? c.485G>C r.(?) p.(Arg162Pro) g.57503918G>C Copied from the Exome Variant Server POLR2C_000048 2/12996 2/8600 0/4396
?/? c.497A>G r.(?) p.(Lys166Arg) g.57503930A>G Copied from the Exome Variant Server POLR2C_000049 2/12996 2/8600 0/4396
?/? c.567C>T r.(=) p.(=) g.57504000C>T Copied from the Exome Variant Server POLR2C_000050 5/12996 2/8600 3/4396
?/? c.627G>A r.(=) p.(=) g.57504210G>A Copied from the Exome Variant Server POLR2C_000051 1/12996 1/8600 0/4396
?/? c.659A>G r.(?) p.(Tyr220Cys) g.57504242A>G Copied from the Exome Variant Server POLR2C_000052 2/12996 2/8600 0/4396
?/? c.683+17A>G r.(=) p.(=) g.57504283A>G Copied from the Exome Variant Server POLR2C_000053 180/12992 162/8600 18/4392
?/? c.683+57T>G r.(=) p.(=) g.57504323T>G Copied from the Exome Variant Server POLR2C_000054 1/4566 1/3182 0/1384
?/? c.684-50G>A r.(=) p.(=) g.57504837G>A Copied from the Exome Variant Server POLR2C_000055 1/12996 1/8600 0/4396
?/? c.684-45G>A r.(=) p.(=) g.57504842G>A Copied from the Exome Variant Server POLR2C_000056 1/12996 1/8600 0/4396
?/? c.684-20A>C r.(=) p.(=) g.57504867A>C Copied from the Exome Variant Server POLR2C_000057 7/12996 0/8600 7/4396
?/? c.684-13T>C r.(=) p.(=) g.57504874T>C Copied from the Exome Variant Server POLR2C_000058 28/12996 0/8600 28/4396
?/? c.695A>G r.(?) p.(Asn232Ser) g.57504898A>G Copied from the Exome Variant Server POLR2C_000059 2/12996 0/8600 2/4396
?/? c.696T>C r.(=) p.(=) g.57504899T>C Copied from the Exome Variant Server POLR2C_000060 1/12996 1/8600 0/4396
?/? c.719G>A r.(?) p.(Arg240His) g.57504922G>A Copied from the Exome Variant Server POLR2C_000061 2/12996 1/8600 1/4396
?/? c.729C>T r.(=) p.(=) g.57504932C>T Copied from the Exome Variant Server POLR2C_000062 3/12996 2/8600 1/4396
?/? c.785_788del r.(?) p.(Leu263Alafs*9) g.57504988_57504991del Copied from the Exome Variant Server POLR2C_000063 2/12518 0/8254 2/4264
?/? c.786A>G r.(=) p.(=) g.57504989A>G Copied from the Exome Variant Server POLR2C_000064 10/12996 9/8600 1/4396
?/? c.795C>T r.(=) p.(=) g.57504998C>T Copied from the Exome Variant Server POLR2C_000065 1/12996 1/8600 0/4396
?/? c.*28G>A r.(=) p.(=) g.57505059G>A Copied from the Exome Variant Server POLR2C_000066 2/12996 2/8600 0/4396
?/? c.*40C>T r.(=) p.(=) g.57505071C>T Copied from the Exome Variant Server POLR2C_000067 1/12996 0/8600 1/4396
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