Unique variants in gene CSTF2

Information The variants shown are described using the NM_001325.2 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.-15C>T r.(=) p.(=) g.100075391C>T Copied from the Exome Variant Server CSTF2_000001 1/10563 0/6728 1/3835
1 c.58+51C>T r.(=) p.(=) g.100075514C>T Copied from the Exome Variant Server CSTF2_000002 458/10563 3/6728 455/3835
1 c.59-45A>G r.(=) p.(=) g.100076471A>G Copied from the Exome Variant Server CSTF2_000003 1/10562 1/6728 0/3834
1 c.137+6A>T r.(=) p.(=) g.100076600A>T Copied from the Exome Variant Server CSTF2_000004 1/10563 1/6728 0/3835
1 c.137+11C>T r.(=) p.(=) g.100076605C>T Copied from the Exome Variant Server CSTF2_000005 1/10563 1/6728 0/3835
1 c.138-47C>T r.(=) p.(=) g.100077193C>T Copied from the Exome Variant Server CSTF2_000006 5142/10563 3667/6728 1475/3835
1 c.189A>G r.(=) p.(=) g.100077291A>G Copied from the Exome Variant Server CSTF2_000007 1/10563 0/6728 1/3835
1 c.240C>T r.(=) p.(=) g.100077342C>T Copied from the Exome Variant Server CSTF2_000008 1/10563 0/6728 1/3835
1 c.308-26C>T r.(=) p.(=) g.100078255C>T Copied from the Exome Variant Server CSTF2_000009 1/10563 1/6728 0/3835
1 c.308-19G>A r.(=) p.(=) g.100078262G>A Copied from the Exome Variant Server CSTF2_000010 1/10563 0/6728 1/3835
1 c.308-6G>T r.(=) p.(=) g.100078275G>T Copied from the Exome Variant Server CSTF2_000011 3/10563 3/6728 0/3835
1 c.445-49T>C r.(=) p.(=) g.100078826T>C Copied from the Exome Variant Server CSTF2_000012 1/10563 0/6728 1/3835
1 c.445-47A>G r.(=) p.(=) g.100078828A>G Copied from the Exome Variant Server CSTF2_000013 80/10563 0/6728 80/3835
1 c.445-37T>A r.(=) p.(=) g.100078838T>A Copied from the Exome Variant Server CSTF2_000014 17/10563 0/6728 17/3835
1 c.445-23C>G r.(=) p.(=) g.100078852C>G Copied from the Exome Variant Server CSTF2_000015 1/10563 0/6728 1/3835
1 c.445-10A>G r.(=) p.(=) g.100078865A>G Copied from the Exome Variant Server CSTF2_000016 73/10563 1/6728 72/3835
1 c.465C>G r.(=) p.(=) g.100078895C>G Copied from the Exome Variant Server CSTF2_000017 1/10563 1/6728 0/3835
1 c.564+21T>C r.(=) p.(=) g.100079015T>C Copied from the Exome Variant Server CSTF2_000018 1/10563 1/6728 0/3835
1 c.565-52C>T r.(=) p.(=) g.100079057C>T Copied from the Exome Variant Server CSTF2_000019 1/4525 0/3107 1/1418
1 c.653A>G r.(?) p.(Asn218Ser) g.100079197A>G Copied from the Exome Variant Server CSTF2_000020 1/10563 0/6728 1/3835
1 c.683C>G r.(?) p.(Ala228Gly) g.100079227C>G Copied from the Exome Variant Server CSTF2_000021 23/10563 20/6728 3/3835
1 c.702+21_702+22insT r.(=) p.(=) g.100079267_100079268insT Copied from the Exome Variant Server CSTF2_000022 4/10202 2/6483 2/3719
1 c.702+33C>A r.(=) p.(=) g.100079279C>A Copied from the Exome Variant Server CSTF2_000023 1/10559 0/6725 1/3834
1 c.703-34G>A r.(=) p.(=) g.100081589G>A Copied from the Exome Variant Server CSTF2_000024 212/10563 68/6728 144/3835
1 c.703-19_703-18insT r.(=) p.(=) g.100081604_100081605insT Copied from the Exome Variant Server CSTF2_000025 5/10205 4/6484 1/3721
1 c.755G>C r.(?) p.(Gly252Ala) g.100081675G>C Copied from the Exome Variant Server CSTF2_000026 15/10563 1/6728 14/3835
1 c.787G>A r.(?) p.(Ala263Thr) g.100081707G>A Copied from the Exome Variant Server CSTF2_000027 3/10563 0/6728 3/3835
1 c.826+18T>G r.(=) p.(=) g.100081764T>G Copied from the Exome Variant Server CSTF2_000028 1/10563 0/6728 1/3835
1 c.827-46C>T r.(=) p.(=) g.100082983C>T Copied from the Exome Variant Server CSTF2_000029 1/10563 0/6728 1/3835
1 c.827-14C>T r.(=) p.(=) g.100083015C>T Copied from the Exome Variant Server CSTF2_000030 61/10563 0/6728 61/3835
1 c.889+26A>C r.(=) p.(=) g.100083117A>C Copied from the Exome Variant Server CSTF2_000031 1/10561 1/6728 0/3833
1 c.889+33T>C r.(=) p.(=) g.100083124T>C Copied from the Exome Variant Server CSTF2_000032 1/10561 0/6728 1/3833
1 c.890-20C>A r.(=) p.(=) g.100086484C>A Copied from the Exome Variant Server CSTF2_000033 1/10563 0/6728 1/3835
1 c.897G>A r.(?) p.(Met299Ile) g.100086511G>A Copied from the Exome Variant Server CSTF2_000034 1/10563 1/6728 0/3835
1 c.915T>C r.(=) p.(=) g.100086529T>C Copied from the Exome Variant Server CSTF2_000035 34/10563 0/6728 34/3835
1 c.939G>A r.(=) p.(=) g.100086553G>A Copied from the Exome Variant Server CSTF2_000036 4/10563 4/6728 0/3835
1 c.974C>G r.(?) p.(Ala325Gly) g.100086588C>G Copied from the Exome Variant Server CSTF2_000037 1/10563 0/6728 1/3835
1 c.997A>G r.(?) p.(Thr333Ala) g.100086611A>G Copied from the Exome Variant Server CSTF2_000038 1/10563 1/6728 0/3835
1 c.1031+10A>G r.(=) p.(=) g.100086655A>G Copied from the Exome Variant Server CSTF2_000039 7/10563 7/6728 0/3835
1 c.1031+49T>G r.(=) p.(=) g.100086694T>G Copied from the Exome Variant Server CSTF2_000040 1/10563 1/6728 0/3835
1 c.1032-47T>C r.(=) p.(=) g.100087676T>C Copied from the Exome Variant Server CSTF2_000041 28/10545 0/6716 28/3829
1 c.1032-18G>A r.(=) p.(=) g.100087705G>A Copied from the Exome Variant Server CSTF2_000042 2/10563 2/6728 0/3835
1 c.1067T>C r.(?) p.(Met356Thr) g.100087758T>C Copied from the Exome Variant Server CSTF2_000043 1/10563 0/6728 1/3835
1 c.1140C>T r.(=) p.(=) g.100087831C>T Copied from the Exome Variant Server CSTF2_000044 287/10563 2/6728 285/3835
1 c.1208-17T>C r.(=) p.(=) g.100088152T>C Copied from the Exome Variant Server CSTF2_000045 1/10563 1/6728 0/3835
1 c.1208-15del r.(=) p.(=) g.100088154del Copied from the Exome Variant Server CSTF2_000046 6/10204 5/6483 1/3721
1 c.1280C>T r.(?) p.(Ala427Val) g.100088241C>T Copied from the Exome Variant Server CSTF2_000047 2/10563 1/6728 1/3835
1 c.1294G>C r.(?) p.(Ala432Pro) g.100088255G>C Copied from the Exome Variant Server CSTF2_000048 1/10563 1/6728 0/3835
1 c.1413G>A r.(=) p.(=) g.100088374G>A Copied from the Exome Variant Server CSTF2_000049 2/10563 0/6728 2/3835
1 c.1475C>T r.(?) p.(Ala492Val) g.100088436C>T Copied from the Exome Variant Server CSTF2_000050 1/10563 1/6728 0/3835
1 c.1476G>A r.(=) p.(=) g.100088437G>A Copied from the Exome Variant Server CSTF2_000051 2/10563 0/6728 2/3835
1 c.1575C>T r.(=) p.(=) g.100092402C>T Copied from the Exome Variant Server CSTF2_000052 1/10563 0/6728 1/3835
1 c.1612-38C>T r.(=) p.(=) g.100093190C>T Copied from the Exome Variant Server CSTF2_000053 1/10559 1/6726 0/3833
1 c.1612-11C>G r.(=) p.(=) g.100093217C>G Copied from the Exome Variant Server CSTF2_000054 1/10563 1/6728 0/3835
1 c.*3+8A>G r.(=) p.(=) g.100093361A>G Copied from the Exome Variant Server CSTF2_000055 1/10563 0/6728 1/3835
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