All transcript variants in gene CSE1L

Information The variants shown are described using the NM_001316.3 transcript reference sequence.

161 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-11-39G>A r.(=) p.(=) g.47674951G>A Copied from the Exome Variant Server CSE1L_000001 1/13006 1/8600 0/4406
?/? c.-11-17C>T r.(=) p.(=) g.47674973C>T Copied from the Exome Variant Server CSE1L_000002 4/13006 0/8600 4/4406
?/? c.-11-13T>C r.(=) p.(=) g.47674977T>C Copied from the Exome Variant Server CSE1L_000003 1/13006 0/8600 1/4406
?/? c.13G>A r.(?) p.(Asp5Asn) g.47675013G>A Copied from the Exome Variant Server CSE1L_000004 1/13006 1/8600 0/4406
?/? c.33A>G r.(=) p.(=) g.47675033A>G Copied from the Exome Variant Server CSE1L_000005 1/13006 1/8600 0/4406
?/? c.85+27G>T r.(=) p.(=) g.47675112G>T Copied from the Exome Variant Server CSE1L_000006 37/13006 0/8600 37/4406
?/? c.86-42A>G r.(=) p.(=) g.47679697A>G Copied from the Exome Variant Server CSE1L_000007 639/12634 16/8430 623/4204
?/? c.86-31T>G r.(=) p.(=) g.47679708T>G Copied from the Exome Variant Server CSE1L_000008 1/12804 1/8498 0/4306
?/? c.102A>G r.(=) p.(=) g.47679755A>G Copied from the Exome Variant Server CSE1L_000009 1/12982 1/8578 0/4404
?/? c.126T>C r.(=) p.(=) g.47679779T>C Copied from the Exome Variant Server CSE1L_000010 1/12988 0/8584 1/4404
?/? c.228+31C>A r.(=) p.(=) g.47679912C>A Copied from the Exome Variant Server CSE1L_000011 98/12950 0/8560 98/4390
?/? c.229-16del r.(=) p.(=) g.47682713del Copied from the Exome Variant Server CSE1L_000012 1/12518 0/8254 1/4264
?/? c.240A>G r.(=) p.(=) g.47682740A>G Copied from the Exome Variant Server CSE1L_000013 37/13006 0/8600 37/4406
?/? c.281C>T r.(?) p.(Ala94Val) g.47682781C>T Copied from the Exome Variant Server CSE1L_000014 1/13006 0/8600 1/4406
?/? c.330+8C>G r.(=) p.(=) g.47682838C>G Copied from the Exome Variant Server CSE1L_000015 1/13006 1/8600 0/4406
?/? c.330+9G>T r.(=) p.(=) g.47682839G>T Copied from the Exome Variant Server CSE1L_000016 1/13006 1/8600 0/4406
?/? c.331-18_331-15del r.(=) p.(=) g.47682884_47682887del Copied from the Exome Variant Server CSE1L_000017 2/12516 2/8252 0/4264
?/? c.331-9C>T r.(=) p.(=) g.47682893C>T Copied from the Exome Variant Server CSE1L_000018 2855/13006 2315/8600 540/4406
?/? c.441T>C r.(=) p.(=) g.47683012T>C Copied from the Exome Variant Server CSE1L_000019 1/13006 1/8600 0/4406
?/? c.476+32A>G r.(=) p.(=) g.47683079A>G Copied from the Exome Variant Server CSE1L_000020 4/13004 4/8600 0/4404
?/? c.476+47A>G r.(=) p.(=) g.47683094A>G Copied from the Exome Variant Server CSE1L_000021 37/13000 0/8598 37/4402
?/? c.477-43_477-40del r.(=) p.(=) g.47683684_47683687del Copied from the Exome Variant Server CSE1L_000022 161/12504 138/8248 23/4256
?/? c.477-29A>C r.(=) p.(=) g.47683698A>C Copied from the Exome Variant Server CSE1L_000023 1/12998 1/8596 0/4402
?/? c.477-16T>C r.(=) p.(=) g.47683711T>C Copied from the Exome Variant Server CSE1L_000024 1/12998 0/8596 1/4402
?/? c.477-3T>C r.spl? p.? g.47683724T>C Copied from the Exome Variant Server CSE1L_000025 10/13002 10/8598 0/4404
?/? c.501C>T r.(=) p.(=) g.47683751C>T Copied from the Exome Variant Server CSE1L_000026 1/13004 0/8600 1/4404
?/? c.525T>C r.(=) p.(=) g.47683775T>C Copied from the Exome Variant Server CSE1L_000027 1/13006 1/8600 0/4406
?/? c.552G>A r.(=) p.(=) g.47683802G>A Copied from the Exome Variant Server CSE1L_000028 1/13006 1/8600 0/4406
?/? c.567+21A>G r.(=) p.(=) g.47683838A>G Copied from the Exome Variant Server CSE1L_000029 4/13002 4/8598 0/4404
?/? c.567+48C>A r.(=) p.(=) g.47683865C>A Copied from the Exome Variant Server CSE1L_000030 30/12960 1/8570 29/4390
?/? c.568-25C>T r.(=) p.(=) g.47685227C>T Copied from the Exome Variant Server CSE1L_000031 1/13006 1/8600 0/4406
?/? c.568-17C>G r.(=) p.(=) g.47685235C>G Copied from the Exome Variant Server CSE1L_000032 8/13006 7/8600 1/4406
?/? c.574A>G r.(?) p.(Ile192Val) g.47685258A>G Copied from the Exome Variant Server CSE1L_000033 2/13006 0/8600 2/4406
?/? c.575T>C r.(?) p.(Ile192Thr) g.47685259T>C Copied from the Exome Variant Server CSE1L_000034 2/13006 1/8600 1/4406
?/? c.636G>C r.(=) p.(=) g.47685320G>C Copied from the Exome Variant Server CSE1L_000035 3071/13006 2133/8600 938/4406
?/? c.639C>A r.(=) p.(=) g.47685323C>A Copied from the Exome Variant Server CSE1L_000036 1/13006 1/8600 0/4406
?/? c.675+22C>A r.(=) p.(=) g.47685381C>A Copied from the Exome Variant Server CSE1L_000037 1/13006 1/8600 0/4406
?/? c.676-32T>C r.(=) p.(=) g.47686710T>C Copied from the Exome Variant Server CSE1L_000038 36/12972 0/8580 36/4392
?/? c.726T>C r.(=) p.(=) g.47686792T>C Copied from the Exome Variant Server CSE1L_000039 7/12992 0/8596 7/4396
?/? c.768+44_768+45del r.(=) p.(=) g.47686878_47686879del Copied from the Exome Variant Server CSE1L_000040 1/12472 0/8228 1/4244
?/? c.769-49T>C r.(=) p.(=) g.47688774T>C Copied from the Exome Variant Server CSE1L_000041 14/12994 0/8594 14/4400
?/? c.769-31A>G r.(=) p.(=) g.47688792A>G Copied from the Exome Variant Server CSE1L_000042 1/13004 0/8600 1/4404
?/? c.772G>A r.(?) p.(Glu258Lys) g.47688826G>A Copied from the Exome Variant Server CSE1L_000043 1/13006 0/8600 1/4406
?/? c.784G>A r.(?) p.(Gly262Ser) g.47688838G>A Copied from the Exome Variant Server CSE1L_000044 1/13006 0/8600 1/4406
?/? c.826G>A r.(?) p.(Ala276Thr) g.47688880G>A Copied from the Exome Variant Server CSE1L_000045 1/13006 0/8600 1/4406
?/? c.874C>T r.(?) p.(Arg292Cys) g.47688928C>T Copied from the Exome Variant Server CSE1L_000046 1/13006 1/8600 0/4406
?/? c.903A>G r.(=) p.(=) g.47688957A>G Copied from the Exome Variant Server CSE1L_000047 89/13006 79/8600 10/4406
?/? c.912G>A r.(=) p.(=) g.47688966G>A Copied from the Exome Variant Server CSE1L_000048 1/13006 0/8600 1/4406
?/? c.919G>A r.(?) p.(Glu307Lys) g.47688973G>A Copied from the Exome Variant Server CSE1L_000049 1/13006 1/8600 0/4406
?/? c.922G>A r.(?) p.(Val308Ile) g.47688976G>A Copied from the Exome Variant Server CSE1L_000050 1/13006 1/8600 0/4406
?/? c.936+18A>G r.(=) p.(=) g.47689008A>G Copied from the Exome Variant Server CSE1L_000051 1/13006 1/8600 0/4406
?/? c.936+46A>G r.(=) p.(=) g.47689036A>G Copied from the Exome Variant Server CSE1L_000052 1325/13006 1220/8600 105/4406
?/? c.937-43G>A r.(=) p.(=) g.47689062G>A Copied from the Exome Variant Server CSE1L_000053 1/13004 0/8600 1/4404
?/? c.954T>A r.(=) p.(=) g.47689122T>A Copied from the Exome Variant Server CSE1L_000054 1/13006 1/8600 0/4406
?/? c.1012A>G r.(?) p.(Asn338Asp) g.47689180A>G Copied from the Exome Variant Server CSE1L_000055 1/13004 1/8598 0/4406
?/? c.1014C>T r.(=) p.(=) g.47689182C>T Copied from the Exome Variant Server CSE1L_000056 1/13004 0/8598 1/4406
?/? c.1066+34A>G r.(=) p.(=) g.47689268A>G Copied from the Exome Variant Server CSE1L_000057 1/12986 1/8592 0/4394
?/? c.1066+39G>A r.(=) p.(=) g.47689273G>A Copied from the Exome Variant Server CSE1L_000058 3/12982 2/8590 1/4392
?/? c.1066+47T>C r.(=) p.(=) g.47689281T>C Copied from the Exome Variant Server CSE1L_000059 2/12978 2/8588 0/4390
?/? c.1067-31G>A r.(=) p.(=) g.47691291G>A Copied from the Exome Variant Server CSE1L_000060 4/13006 4/8600 0/4406
?/? c.1132+18T>C r.(=) p.(=) g.47691405T>C Copied from the Exome Variant Server CSE1L_000061 1/13006 1/8600 0/4406
?/? c.1132+25C>A r.(=) p.(=) g.47691412C>A Copied from the Exome Variant Server CSE1L_000062 1/13006 1/8600 0/4406
?/? c.1132+32C>G r.(=) p.(=) g.47691419C>G Copied from the Exome Variant Server CSE1L_000063 5/13006 0/8600 5/4406
?/? c.1132+43A>T r.(=) p.(=) g.47691430A>T Copied from the Exome Variant Server CSE1L_000064 385/13004 350/8600 35/4404
?/? c.1132+58C>T r.(=) p.(=) g.47691445C>T Copied from the Exome Variant Server CSE1L_000065 1012/4564 839/3180 173/1384
?/? c.1133-49T>G r.(=) p.(=) g.47691806T>G Copied from the Exome Variant Server CSE1L_000066 13/12998 5/8600 8/4398
?/? c.1133-46_1133-45del r.(=) p.(=) g.47691809_47691810del Copied from the Exome Variant Server CSE1L_000067 4/12514 3/8254 1/4260
?/? c.1133-45_1133-44insG r.(=) p.(=) g.47691810_47691811insG Copied from the Exome Variant Server CSE1L_000068 18/12512 11/8252 7/4260
?/? c.1133-43_1133-42insGT r.(=) p.(=) g.47691812_47691813insGT Copied from the Exome Variant Server CSE1L_000069 8/12512 5/8252 3/4260
?/? c.1133-39del r.(=) p.(=) g.47691816del Copied from the Exome Variant Server CSE1L_000070 24/12512 12/8252 12/4260
?/? c.1133-27A>G r.(=) p.(=) g.47691828A>G Copied from the Exome Variant Server CSE1L_000071 1/13004 0/8600 1/4404
?/? c.1133-15C>A r.(=) p.(=) g.47691840C>A Copied from the Exome Variant Server CSE1L_000072 1/13006 0/8600 1/4406
?/? c.1133-10C>T r.(=) p.(=) g.47691845C>T Copied from the Exome Variant Server CSE1L_000073 1/13006 0/8600 1/4406
?/? c.1175G>T r.(?) p.(Gly392Val) g.47691897G>T Copied from the Exome Variant Server CSE1L_000074 1/13006 0/8600 1/4406
?/? c.1255A>G r.(?) p.(Asn419Asp) g.47691977A>G Copied from the Exome Variant Server CSE1L_000075 1/13006 0/8600 1/4406
?/? c.1277A>G r.(?) p.(His426Arg) g.47691999A>G Copied from the Exome Variant Server CSE1L_000076 1/13006 1/8600 0/4406
?/? c.1305A>G r.(=) p.(=) g.47692027A>G Copied from the Exome Variant Server CSE1L_000077 1/13006 0/8600 1/4406
?/? c.1335+15T>C r.(=) p.(=) g.47692072T>C Copied from the Exome Variant Server CSE1L_000078 1/13006 1/8600 0/4406
?/? c.1335+33A>G r.(=) p.(=) g.47692090A>G Copied from the Exome Variant Server CSE1L_000079 1/13006 0/8600 1/4406
?/? c.1367A>C r.(?) p.(Asn456Thr) g.47693548A>C Copied from the Exome Variant Server CSE1L_000080 1/13006 0/8600 1/4406
?/? c.1420+21del r.(=) p.(=) g.47693622del Copied from the Exome Variant Server CSE1L_000081 3/12516 2/8252 1/4264
?/? c.1421-4A>G r.spl? p.? g.47695094A>G Copied from the Exome Variant Server CSE1L_000082 1/12996 1/8590 0/4406
?/? c.1439T>C r.(?) p.(Leu480Pro) g.47695116T>C Copied from the Exome Variant Server CSE1L_000083 1/12996 1/8590 0/4406
?/? c.1482+12_1482+15del r.(=) p.(=) g.47695171_47695174del Copied from the Exome Variant Server CSE1L_000085 4/12494 3/8230 1/4264
?/? c.1482+16T>A r.(=) p.(=) g.47695175T>A Copied from the Exome Variant Server CSE1L_000084 1/12984 1/8578 0/4406
?/? c.1483-35T>C r.(=) p.(=) g.47700528T>C Copied from the Exome Variant Server CSE1L_000086 24/13006 0/8600 24/4406
?/? c.1483-27G>C r.(=) p.(=) g.47700536G>C Copied from the Exome Variant Server CSE1L_000087 1/13006 1/8600 0/4406
?/? c.1483-8del r.(=) p.(=) g.47700555del Copied from the Exome Variant Server CSE1L_000088 5/12518 5/8254 0/4264
?/? c.1483-8_1483-7insTTT r.(=) p.(=) g.47700555_47700556insTTT Copied from the Exome Variant Server CSE1L_000089 1/12518 0/8254 1/4264
?/? c.1537G>A r.(?) p.(Ala513Thr) g.47700617G>A Copied from the Exome Variant Server CSE1L_000090 1/13006 1/8600 0/4406
?/? c.1547T>C r.(?) p.(Ile516Thr) g.47700627T>C Copied from the Exome Variant Server CSE1L_000091 1/13006 0/8600 1/4406
?/? c.1557T>A r.(?) p.(His519Gln) g.47700637T>A Copied from the Exome Variant Server CSE1L_000092 1/13006 0/8600 1/4406
?/? c.1563C>T r.(=) p.(=) g.47700643C>T Copied from the Exome Variant Server CSE1L_000093 4/13006 1/8600 3/4406
?/? c.1585C>T r.(?) p.(Leu529Phe) g.47700665C>T Copied from the Exome Variant Server CSE1L_000094 1/13006 1/8600 0/4406
?/? c.1593T>C r.(=) p.(=) g.47700673T>C Copied from the Exome Variant Server CSE1L_000095 1/13006 0/8600 1/4406
?/? c.1620-19G>C r.(=) p.(=) g.47701801G>C Copied from the Exome Variant Server CSE1L_000096 5/13002 0/8598 5/4404
?/? c.1638C>T r.(=) p.(=) g.47701838C>T Copied from the Exome Variant Server CSE1L_000097 1/13004 0/8600 1/4404
?/? c.1644G>A r.(=) p.(=) g.47701844G>A Copied from the Exome Variant Server CSE1L_000098 12/13006 0/8600 12/4406
?/? c.1723+42T>C r.(=) p.(=) g.47701965T>C Copied from the Exome Variant Server CSE1L_000099 15/13004 0/8600 15/4404
?/? c.1724-31dup r.(=) p.(=) g.47704515dup Copied from the Exome Variant Server CSE1L_000100 6/12516 5/8252 1/4264
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