All transcript variants in gene CDC73

Information The variants shown are described using the NM_024529.4 transcript reference sequence.

135 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.-36_-35insGG r.(=) p.(=) g.193091295_193091296insGG Copied from the Exome Variant Server CDC73_000001 376/11964 251/7922 125/4042
?/? c.-11del r.(=) p.(=) g.193091320del Copied from the Exome Variant Server CDC73_000003 38/12520 22/8254 16/4266
?/? c.-11dup r.(=) p.(=) g.193091320dup Copied from the Exome Variant Server CDC73_000002 133/12520 87/8254 46/4266
?/? c.-9G>T r.(=) p.(=) g.193091322G>T Copied from the Exome Variant Server CDC73_000004 3/13006 0/8600 3/4406
?/? c.-7G>C r.(=) p.(=) g.193091324G>C Copied from the Exome Variant Server CDC73_000005 1/13006 1/8600 0/4406
?/? c.33C>T r.(=) p.(=) g.193091363C>T Copied from the Exome Variant Server CDC73_000006 10/13006 10/8600 0/4406
?/? c.131+14G>C r.(=) p.(=) g.193091475G>C Copied from the Exome Variant Server CDC73_000007 1/13006 1/8600 0/4406
?/? c.131+30T>C r.(=) p.(=) g.193091491T>C Copied from the Exome Variant Server CDC73_000008 15/13006 3/8600 12/4406
?/? c.131+49G>A r.(=) p.(=) g.193091510G>A Copied from the Exome Variant Server CDC73_000009 1/13006 1/8600 0/4406
?/? c.132-14_132-13insAATT r.(=) p.(=) g.193094228_193094229insAATT Copied from the Exome Variant Server CDC73_000010 25/12520 0/8254 25/4266
?/? c.132-13_132-12insTA r.(=) p.(=) g.193094229_193094230insTA Copied from the Exome Variant Server CDC73_000011 24/12520 0/8254 24/4266
?/? c.237+22_237+25del r.(=) p.(=) g.193094369_193094372del Copied from the Exome Variant Server CDC73_000012 317/12520 262/8254 55/4266
?/? c.237+28T>C r.(=) p.(=) g.193094375T>C Copied from the Exome Variant Server CDC73_000013 8244/13006 5911/8600 2333/4406
?/? c.237+30_237+33del r.(=) p.(=) g.193094377_193094380del Copied from the Exome Variant Server CDC73_000014 309/12520 257/8254 52/4266
?/? c.238-31T>A r.(=) p.(=) g.193099273T>A Copied from the Exome Variant Server CDC73_000015 2/12998 1/8594 1/4404
?/? c.288A>G r.(=) p.(=) g.193099354A>G Copied from the Exome Variant Server CDC73_000016 1/13006 0/8600 1/4406
?/? c.303A>C r.(?) p.(Glu101Asp) g.193099369A>C Copied from the Exome Variant Server CDC73_000018 1/13006 1/8600 0/4406
?/? c.306G>A r.(=) p.(=) g.193099372G>A Copied from the Exome Variant Server CDC73_000020 1/13006 0/8600 1/4406
?/? c.307+42G>A r.(=) p.(=) g.193099415G>A Copied from the Exome Variant Server CDC73_000022 5/13006 5/8600 0/4406
?/? c.308-16C>A r.(=) p.(=) g.193104505C>A Copied from the Exome Variant Server CDC73_000024 30/13006 1/8600 29/4406
?/? c.316G>A r.(?) p.(Ala106Thr) g.193104529G>A Copied from the Exome Variant Server CDC73_000026 1/13006 1/8600 0/4406
?/? c.333C>T r.(=) p.(=) g.193104546C>T Copied from the Exome Variant Server CDC73_000028 4/13006 2/8600 2/4406
?/? c.371-38C>G r.(=) p.(=) g.193104629C>G Copied from the Exome Variant Server CDC73_000030 1/13006 0/8600 1/4406
?/? c.371-4A>G r.spl? p.? g.193104663A>G Copied from the Exome Variant Server CDC73_000032 3/13006 0/8600 3/4406
?/? c.423+30T>G r.(=) p.(=) g.193104749T>G Copied from the Exome Variant Server CDC73_000034 1/12954 1/8578 0/4376
?/? c.423+906G>T r.(=) p.(=) g.193105625G>T Copied from the Exome Variant Server CDC73_000036 13/10230 12/7124 1/3106
?/? c.423+911C>T r.(=) p.(=) g.193105630C>T Copied from the Exome Variant Server CDC73_000017 2/10258 0/7144 2/3114
?/? c.423+962_423+963insTA r.(=) p.(=) g.193105681_193105682insTA Copied from the Exome Variant Server CDC73_000019 2/10310 0/7038 2/3272
?/? c.424-28A>G r.(=) p.(=) g.193107187A>G Copied from the Exome Variant Server CDC73_000021 102/13006 93/8600 9/4406
?/? c.424-23C>T r.(=) p.(=) g.193107192C>T Copied from the Exome Variant Server CDC73_000023 2/13006 0/8600 2/4406
?/? c.424-16C>T r.(=) p.(=) g.193107199C>T Copied from the Exome Variant Server CDC73_000025 1/13006 1/8600 0/4406
?/? c.424-7T>C r.(=) p.(=) g.193107208T>C Copied from the Exome Variant Server CDC73_000027 1/13006 1/8600 0/4406
?/? c.512+29G>A r.(=) p.(=) g.193107332G>A Copied from the Exome Variant Server CDC73_000029 1/13006 0/8600 1/4406
?/? c.512+35T>C r.(=) p.(=) g.193107338T>C Copied from the Exome Variant Server CDC73_000031 22/13004 21/8598 1/4406
?/? c.512+48A>C r.(=) p.(=) g.193107351A>C Copied from the Exome Variant Server CDC73_000033 8/13006 0/8600 8/4406
?/? c.512+52A>G r.(=) p.(=) g.193107355A>G Copied from the Exome Variant Server CDC73_000035 4/7272 0/4618 4/2654
?/? c.513-35C>G r.(=) p.(=) g.193110945C>G Copied from the Exome Variant Server CDC73_000037 3/12940 3/8582 0/4358
?/? c.513-17A>C r.(=) p.(=) g.193110963A>C Copied from the Exome Variant Server CDC73_000038 2/12992 2/8594 0/4398
?/? c.534A>G r.(=) p.(=) g.193111001A>G Copied from the Exome Variant Server CDC73_000039 1/13006 1/8600 0/4406
?/? c.648T>A r.(=) p.(=) g.193111115T>A Copied from the Exome Variant Server CDC73_000041 3/13006 0/8600 3/4406
?/? c.675C>G r.(=) p.(=) g.193111142C>G Copied from the Exome Variant Server CDC73_000043 1/13006 0/8600 1/4406
?/? c.680G>A r.(?) p.(Arg227Lys) g.193111147G>A Copied from the Exome Variant Server CDC73_000045 3/13006 3/8600 0/4406
?/? c.684G>A r.(=) p.(=) g.193111151G>A Copied from the Exome Variant Server CDC73_000047 2/13006 0/8600 2/4406
?/? c.729+43G>C r.(=) p.(=) g.193111239G>C Copied from the Exome Variant Server CDC73_000049 1/13006 1/8600 0/4406
?/? c.730-46A>G r.(=) p.(=) g.193116951A>G Copied from the Exome Variant Server CDC73_000051 4/12748 2/8424 2/4324
?/? c.754A>G r.(?) p.(Ile252Val) g.193117021A>G Copied from the Exome Variant Server CDC73_000053 1/13006 1/8600 0/4406
?/? c.762A>G r.(=) p.(=) g.193117029A>G Copied from the Exome Variant Server CDC73_000054 1/13006 1/8600 0/4406
?/? c.828+24A>G r.(=) p.(=) g.193117119A>G Copied from the Exome Variant Server CDC73_000055 1/13006 0/8600 1/4406
?/? c.828+29A>T r.(=) p.(=) g.193117124A>T Copied from the Exome Variant Server CDC73_000056 156/13004 106/8598 50/4406
?/? c.829-31A>T r.(=) p.(=) g.193119403A>T Copied from the Exome Variant Server CDC73_000057 1/13006 1/8600 0/4406
?/? c.845C>A r.(?) p.(Thr282Asn) g.193119450C>A Copied from the Exome Variant Server CDC73_000058 1/13006 1/8600 0/4406
?/? c.873C>T r.(=) p.(=) g.193119478C>T Copied from the Exome Variant Server CDC73_000040 1/13006 1/8600 0/4406
?/? c.908-51T>A r.(=) p.(=) g.193121459T>A Copied from the Exome Variant Server CDC73_000042 1/13004 0/8598 1/4406
?/? c.908-46_908-45insA r.(=) p.(=) g.193121464_193121465insA Copied from the Exome Variant Server CDC73_000044 1/12520 1/8254 0/4266
?/? c.908-25A>G r.(=) p.(=) g.193121485A>G Copied from the Exome Variant Server CDC73_000046 1/13006 0/8600 1/4406
?/? c.908-7T>C r.(=) p.(=) g.193121503T>C Copied from the Exome Variant Server CDC73_000048 1/13006 0/8600 1/4406
?/? c.923A>G r.(?) p.(Lys308Arg) g.193121525A>G Copied from the Exome Variant Server CDC73_000050 1/13006 0/8600 1/4406
?/? c.972G>A r.(=) p.(=) g.193121574G>A Copied from the Exome Variant Server CDC73_000052 1/13006 1/8600 0/4406
?/? c.973-23543G>A r.(=) p.(=) g.193149382G>A Copied from the Exome Variant Server B3GALT2_000001 1/12988 0/8586 1/4402
?/? c.973-23530A>C r.(=) p.(=) g.193149395A>C Copied from the Exome Variant Server B3GALT2_000002 1/13002 1/8596 0/4406
?/? c.973-23518del r.(=) p.(=) g.193149407del Copied from the Exome Variant Server B3GALT2_000003 26/12516 17/8250 9/4266
?/? c.973-23473C>T r.(?) p.(Gly414Asp) g.193149452C>T Copied from the Exome Variant Server B3GALT2_000004 1/13006 1/8600 0/4406
?/? c.973-23453G>A r.(=) p.(=) g.193149472G>A Copied from the Exome Variant Server B3GALT2_000006 1/13006 1/8600 0/4406
?/? c.973-23417G>A r.(=) p.(=) g.193149508G>A Copied from the Exome Variant Server B3GALT2_000008 1/13006 1/8600 0/4406
?/? c.973-23413C>T r.(?) p.(Trp394*) g.193149512C>T Copied from the Exome Variant Server B3GALT2_000010 1/13006 1/8600 0/4406
?/? c.973-23404A>G r.(?) p.(Ile391Thr) g.193149521A>G Copied from the Exome Variant Server B3GALT2_000012 3/13006 2/8600 1/4406
?/? c.973-23292C>T r.(?) p.(Asp354Asn) g.193149633C>T Copied from the Exome Variant Server B3GALT2_000014 1/13006 1/8600 0/4406
?/? c.973-23247A>G r.(=) p.(=) g.193149678A>G Copied from the Exome Variant Server B3GALT2_000016 1/13006 0/8600 1/4406
?/? c.973-23226A>G r.(=) p.(=) g.193149699A>G Copied from the Exome Variant Server B3GALT2_000018 2/13006 0/8600 2/4406
?/? c.973-23171A>G r.(=) p.(=) g.193149754A>G Copied from the Exome Variant Server B3GALT2_000020 3/13006 1/8600 2/4406
?/? c.973-23122T>C r.(?) p.(Tyr297Cys) g.193149803T>C Copied from the Exome Variant Server B3GALT2_000022 1/13006 1/8600 0/4406
?/? c.973-23083C>T r.(?) p.(Arg284Gln) g.193149842C>T Copied from the Exome Variant Server B3GALT2_000024 2/13006 2/8600 0/4406
?/? c.973-23036C>T r.(=) p.(=) g.193149889C>T Copied from the Exome Variant Server B3GALT2_000026 6/13006 0/8600 6/4406
?/? c.973-23011T>A r.(?) p.(Glu260Val) g.193149914T>A Copied from the Exome Variant Server B3GALT2_000027 2/13004 0/8598 2/4406
?/? c.973-22966A>G r.(?) p.(Ile245Thr) g.193149959A>G Copied from the Exome Variant Server B3GALT2_000029 1/13004 1/8598 0/4406
?/? c.973-22953A>G r.(?) p.(Tyr241His) g.193149972A>G Copied from the Exome Variant Server B3GALT2_000031 3/13004 3/8598 0/4406
?/? c.973-22937C>T r.(?) p.(Met235Ile) g.193149988C>T Copied from the Exome Variant Server B3GALT2_000005 1/13004 0/8598 1/4406
?/? c.973-22918A>G r.(?) p.(Ile229Thr) g.193150007A>G Copied from the Exome Variant Server B3GALT2_000007 1/13004 1/8598 0/4406
?/? c.973-22865T>C r.(=) p.(=) g.193150060T>C Copied from the Exome Variant Server B3GALT2_000009 1/13006 1/8600 0/4406
?/? c.973-22814A>G r.(=) p.(=) g.193150111A>G Copied from the Exome Variant Server B3GALT2_000011 1/13006 1/8600 0/4406
?/? c.973-22743G>T r.(=) p.(=) g.193150182G>T Copied from the Exome Variant Server B3GALT2_000013 1/13006 1/8600 0/4406
?/? c.973-22730A>G r.(=) p.(=) g.193150195A>G Copied from the Exome Variant Server B3GALT2_000015 1/13006 1/8600 0/4406
?/? c.973-22706A>G r.(=) p.(=) g.193150219A>G Copied from the Exome Variant Server B3GALT2_000017 566/13006 395/8600 171/4406
?/? c.973-22599A>C r.(?) p.(Tyr123Asp) g.193150326A>C Copied from the Exome Variant Server B3GALT2_000019 30/13004 26/8598 4/4406
?/? c.973-22596_973-22595insA r.(?) p.(Ile122Tyrfs*4) g.193150329_193150330insA Copied from the Exome Variant Server B3GALT2_000021 1/12514 0/8248 1/4266
?/? c.973-22589A>G r.(=) p.(=) g.193150336A>G Copied from the Exome Variant Server B3GALT2_000023 1/13004 0/8598 1/4406
?/? c.973-22530T>C r.(?) p.(Asn100Asp) g.193150395T>C Copied from the Exome Variant Server B3GALT2_000025 1/13006 0/8600 1/4406
?/? c.973-22498T>C r.(?) p.(Gln89Arg) g.193150427T>C Copied from the Exome Variant Server B3GALT2_000028 1/13006 0/8600 1/4406
?/? c.973-22435C>T r.(?) p.(Arg68Gln) g.193150490C>T Copied from the Exome Variant Server B3GALT2_000030 1/13004 1/8598 0/4406
?/? c.973-22406G>A r.(=) p.(=) g.193150519G>A Copied from the Exome Variant Server B3GALT2_000032 1/13004 0/8598 1/4406
?/? c.973-22385G>A r.(=) p.(=) g.193150540G>A Copied from the Exome Variant Server B3GALT2_000033 2/13004 2/8598 0/4406
?/? c.973-22382T>C r.(=) p.(=) g.193150543T>C Copied from the Exome Variant Server B3GALT2_000034 1/13004 0/8598 1/4406
?/? c.973-22357A>G r.(?) p.(Phe42Ser) g.193150568A>G Copied from the Exome Variant Server B3GALT2_000035 1/13006 1/8600 0/4406
?/? c.973-22241C>T r.(=) p.(=) g.193150684C>T Copied from the Exome Variant Server B3GALT2_000036 1/13006 1/8600 0/4406
?/? c.973-21T>C r.(=) p.(=) g.193172904T>C Copied from the Exome Variant Server CDC73_000059 5/13006 0/8600 5/4406
?/? c.989G>A r.(?) p.(Arg330Gln) g.193172941G>A Copied from the Exome Variant Server CDC73_000060 2/13006 1/8600 1/4406
?/? c.1011C>T r.(=) p.(=) g.193172963C>T Copied from the Exome Variant Server CDC73_000061 1/13006 1/8600 0/4406
?/? c.1030+30T>G r.(=) p.(=) g.193173012T>G Copied from the Exome Variant Server CDC73_000062 5/13006 0/8600 5/4406
?/? c.1031-47A>G r.(=) p.(=) g.193181148A>G Copied from the Exome Variant Server CDC73_000063 1/12732 1/8500 0/4232
?/? c.1031-20_1031-19insT r.(=) p.(=) g.193181175_193181176insT Copied from the Exome Variant Server CDC73_000064 85/12392 54/8216 31/4176
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