All transcript variants in gene PCNT

Information The variants shown are described using the NM_006031.5 transcript reference sequence.

800 entries on 8 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.-60C>A r.(=) p.(=) g.47744083C>A Copied from the Exome Variant Server PCNT_000001 3/4566 0/3182 3/1384
?/? c.-51_-50del r.(=) p.(=) g.47744092_47744093del Copied from the Exome Variant Server PCNT_000003 21/12430 12/8224 9/4206
?/? c.-25G>C r.(=) p.(=) g.47744118G>C Copied from the Exome Variant Server PCNT_000005 20/12970 0/8590 20/4380
?/? c.-16G>T r.(=) p.(=) g.47744127G>T Copied from the Exome Variant Server PCNT_000007 602/12968 542/8588 60/4380
?/? c.-14G>A r.(=) p.(=) g.47744129G>A Copied from the Exome Variant Server PCNT_000009 1/12970 0/8590 1/4380
?/? c.-6A>T r.(=) p.(=) g.47744137A>T Copied from the Exome Variant Server PCNT_000011 2/12980 2/8598 0/4382
?/? c.24G>A r.(=) p.(=) g.47744166G>A Copied from the Exome Variant Server PCNT_000013 1/12994 0/8600 1/4394
?/? c.54G>A r.(=) p.(=) g.47744196G>A Copied from the Exome Variant Server PCNT_000015 2/12990 2/8598 0/4392
?/? c.54+6C>T r.(=) p.(=) g.47744202C>T Copied from the Exome Variant Server PCNT_000017 602/12990 541/8598 61/4392
?/? c.54+32C>T r.(=) p.(=) g.47744228C>T Copied from the Exome Variant Server PCNT_000020 3/12946 0/8576 3/4370
?/? c.54+44C>T r.(=) p.(=) g.47744240C>T Copied from the Exome Variant Server PCNT_000021 2/12906 0/8556 2/4350
?/? c.54+47A>G r.(=) p.(=) g.47744243A>G Copied from the Exome Variant Server PCNT_000023 1/12896 1/8550 0/4346
?/? c.55-30C>T r.(=) p.(=) g.47746261C>T Copied from the Exome Variant Server PCNT_000025 1/13006 0/8600 1/4406
?/? c.55-14A>G r.(=) p.(=) g.47746277A>G Copied from the Exome Variant Server PCNT_000027 1/13006 0/8600 1/4406
?/? c.67C>T r.(?) p.(Arg23*) g.47746303C>T Copied from the Exome Variant Server PCNT_000030 1/13006 0/8600 1/4406
?/? c.90C>T r.(=) p.(=) g.47746326C>T Copied from the Exome Variant Server PCNT_000031 2/13006 0/8600 2/4406
?/? c.102G>A r.(=) p.(=) g.47746338G>A Copied from the Exome Variant Server PCNT_000002 1/13006 1/8600 0/4406
?/? c.113C>T r.(?) p.(Thr38Met) g.47746349C>T Copied from the Exome Variant Server PCNT_000004 1/13006 0/8600 1/4406
?/? c.127G>A r.(?) p.(Gly43Ser) g.47746363G>A Copied from the Exome Variant Server PCNT_000006 1/13006 0/8600 1/4406
?/? c.139G>C r.(?) p.(Asp47His) g.47746375G>C Copied from the Exome Variant Server PCNT_000008 2/13006 1/8600 1/4406
?/? c.143C>A r.(?) p.(Ala48Glu) g.47746379C>A Copied from the Exome Variant Server PCNT_000010 1/13006 1/8600 0/4406
?/? c.144G>A r.(=) p.(=) g.47746380G>A Copied from the Exome Variant Server PCNT_000012 2/13006 2/8600 0/4406
?/? c.164C>T r.(?) p.(Pro55Leu) g.47746400C>T Copied from the Exome Variant Server PCNT_000014 1/13006 1/8600 0/4406
?/? c.177G>A r.(=) p.(=) g.47746413G>A Copied from the Exome Variant Server PCNT_000016 1/13006 1/8600 0/4406
?/? c.184G>T r.(?) p.(Ala62Ser) g.47746420G>T Copied from the Exome Variant Server PCNT_000018 1/13006 0/8600 1/4406
?/? c.204C>T r.(=) p.(=) g.47746440C>T Copied from the Exome Variant Server PCNT_000019 1/13006 1/8600 0/4406
?/? c.244G>A r.(?) p.(Ala82Thr) g.47746480G>A Copied from the Exome Variant Server PCNT_000022 2/13006 2/8600 0/4406
?/? c.267+23T>C r.(=) p.(=) g.47746526T>C Copied from the Exome Variant Server PCNT_000024 1/13006 1/8600 0/4406
?/? c.267+36T>C r.(=) p.(=) g.47746539T>C Copied from the Exome Variant Server PCNT_000026 2/13006 2/8600 0/4406
?/? c.268-26C>T r.(=) p.(=) g.47754285C>T Copied from the Exome Variant Server PCNT_000028 1/13006 1/8600 0/4406
?/? c.268-25_268-22del r.(=) p.(=) g.47754286_47754289del Copied from the Exome Variant Server PCNT_000029 1/12518 0/8254 1/4264
?/? c.268-24T>G r.(=) p.(=) g.47754287T>G Copied from the Exome Variant Server PCNT_000032 2/13006 1/8600 1/4406
?/? c.268-8_268-6del r.(=) p.(=) g.47754303_47754305del Copied from the Exome Variant Server PCNT_000033 5/12518 5/8254 0/4264
?/? c.321G>A r.(=) p.(=) g.47754364G>A Copied from the Exome Variant Server PCNT_000034 1/13006 1/8600 0/4406
?/? c.335A>G r.(?) p.(His112Arg) g.47754378A>G Copied from the Exome Variant Server PCNT_000035 1/13006 1/8600 0/4406
?/? c.338C>A r.(?) p.(Pro113His) g.47754381C>A Copied from the Exome Variant Server PCNT_000036 1/13006 1/8600 0/4406
?/? c.354G>C r.(=) p.(=) g.47754397G>C Copied from the Exome Variant Server PCNT_000037 1/13006 1/8600 0/4406
?/? c.360C>G r.(?) p.(Phe120Leu) g.47754403C>G Copied from the Exome Variant Server PCNT_000038 1/13006 1/8600 0/4406
?/? c.363A>C r.(=) p.(=) g.47754406A>C Copied from the Exome Variant Server PCNT_000039 1/13006 1/8600 0/4406
?/? c.379C>T r.(?) p.(Pro127Ser) g.47754422C>T Copied from the Exome Variant Server PCNT_000040 1/13006 1/8600 0/4406
?/? c.419C>T r.(?) p.(Pro140Leu) g.47754462C>T Copied from the Exome Variant Server PCNT_000041 1/13006 0/8600 1/4406
?/? c.445A>T r.(?) p.(Ser149Cys) g.47754488A>T Copied from the Exome Variant Server PCNT_000042 3/13006 0/8600 3/4406
?/? c.449A>G r.(?) p.(Asp150Gly) g.47754492A>G Copied from the Exome Variant Server PCNT_000043 1/13006 1/8600 0/4406
?/? c.467A>G r.(?) p.(His156Arg) g.47754510A>G Copied from the Exome Variant Server PCNT_000044 350/13006 318/8600 32/4406
?/? c.498A>G r.(=) p.(=) g.47754541A>G Copied from the Exome Variant Server PCNT_000045 630/13006 477/8600 153/4406
?/? c.520A>G r.(?) p.(Ile174Val) g.47754563A>G Copied from the Exome Variant Server PCNT_000046 588/13006 479/8600 109/4406
?/? c.544C>T r.(?) p.(Arg182Cys) g.47754587C>T Copied from the Exome Variant Server PCNT_000047 1/13006 0/8600 1/4406
?/? c.575_613del r.(?) p.(Ile197_Gly209del) g.47754618_47754656del Copied from the Exome Variant Server PCNT_000048 161/12518 121/8254 40/4264
?/? c.582G>A r.(=) p.(=) g.47754625G>A Copied from the Exome Variant Server PCNT_000049 1/13006 0/8600 1/4406
?/? c.595A>G r.(?) p.(Thr199Ala) g.47754638A>G Copied from the Exome Variant Server PCNT_000050 1/13006 1/8600 0/4406
?/? c.622C>T r.(?) p.(Arg208Cys) g.47754665C>T Copied from the Exome Variant Server PCNT_000051 3/13006 0/8600 3/4406
?/? c.623G>A r.(?) p.(Arg208His) g.47754666G>A Copied from the Exome Variant Server PCNT_000052 10/13006 3/8600 7/4406
?/? c.636A>G r.(=) p.(=) g.47754679A>G Copied from the Exome Variant Server PCNT_000053 4/13006 0/8600 4/4406
?/? c.640-38T>G r.(=) p.(=) g.47766004T>G Copied from the Exome Variant Server PCNT_000054 1776/13006 118/8600 1658/4406
?/? c.640-26C>T r.(=) p.(=) g.47766016C>T Copied from the Exome Variant Server PCNT_000055 1/13006 0/8600 1/4406
?/? c.640-23C>T r.(=) p.(=) g.47766019C>T Copied from the Exome Variant Server PCNT_000056 1/13006 0/8600 1/4406
?/? c.644G>A r.(?) p.(Cys215Tyr) g.47766046G>A Copied from the Exome Variant Server PCNT_000057 3/13006 3/8600 0/4406
?/? c.655T>C r.(?) p.(Cys219Arg) g.47766057T>C Copied from the Exome Variant Server PCNT_000058 1/13006 1/8600 0/4406
?/? c.688C>T r.(?) p.(Arg230Cys) g.47766090C>T Copied from the Exome Variant Server PCNT_000059 4/13006 2/8600 2/4406
?/? c.710A>G r.(?) p.(His237Arg) g.47766112A>G Copied from the Exome Variant Server PCNT_000060 1/13006 0/8600 1/4406
?/? c.711T>G r.(?) p.(His237Gln) g.47766113T>G Copied from the Exome Variant Server PCNT_000061 720/13006 528/8600 192/4406
?/? c.720+10C>T r.(=) p.(=) g.47766132C>T Copied from the Exome Variant Server PCNT_000062 1/13006 1/8600 0/4406
?/? c.720+17T>C r.(=) p.(=) g.47766139T>C Copied from the Exome Variant Server PCNT_000063 8962/13006 5519/8600 3443/4406
?/? c.720+24G>C r.(=) p.(=) g.47766146G>C Copied from the Exome Variant Server PCNT_000064 1/13006 0/8600 1/4406
?/? c.720+32C>T r.(=) p.(=) g.47766154C>T Copied from the Exome Variant Server PCNT_000065 579/13006 471/8600 108/4406
?/? c.720+38C>T r.(=) p.(=) g.47766160C>T Copied from the Exome Variant Server PCNT_000066 2/13006 2/8600 0/4406
?/? c.721-17C>T r.(=) p.(=) g.47766640C>T Copied from the Exome Variant Server PCNT_000067 1/12982 0/8590 1/4392
?/? c.721-11C>T r.(=) p.(=) g.47766646C>T Copied from the Exome Variant Server PCNT_000068 3/12988 3/8594 0/4394
?/? c.721-9C>T r.(=) p.(=) g.47766648C>T Copied from the Exome Variant Server PCNT_000069 4/12988 0/8594 4/4394
?/? c.721-7G>A r.(=) p.(=) g.47766650G>A Copied from the Exome Variant Server PCNT_000070 4159/12986 3246/8594 913/4392
?/? c.721-5C>T r.spl? p.? g.47766652C>T Copied from the Exome Variant Server PCNT_000071 3/12986 2/8594 1/4392
?/? c.721G>T r.(?) p.(Ala241Ser) g.47766657G>T Copied from the Exome Variant Server PCNT_000072 2/12986 2/8594 0/4392
?/? c.724G>A r.(?) p.(Val242Met) g.47766660G>A Copied from the Exome Variant Server PCNT_000073 16/12994 0/8596 16/4398
?/? c.776C>T r.(?) p.(Thr259Met) g.47766712C>T Copied from the Exome Variant Server PCNT_000074 4/12998 0/8594 4/4404
?/? c.904G>A r.(?) p.(Glu302Lys) g.47766840G>A Copied from the Exome Variant Server PCNT_000075 2/13000 2/8598 0/4402
?/? c.911A>C r.(?) p.(Glu304Ala) g.47766847A>C Copied from the Exome Variant Server PCNT_000076 1/13000 1/8598 0/4402
?/? c.924G>C r.(?) p.(Glu308Asp) g.47766860G>C Copied from the Exome Variant Server PCNT_000077 1/13000 1/8598 0/4402
?/? c.931G>T r.(?) p.(Ala311Ser) g.47766867G>T Copied from the Exome Variant Server PCNT_000078 2/13000 2/8598 0/4402
?/? c.935G>A r.(?) p.(Arg312Gln) g.47766871G>A Copied from the Exome Variant Server PCNT_000079 2/12996 1/8592 1/4404
?/? c.947A>T r.(?) p.(Glu316Val) g.47766883A>T Copied from the Exome Variant Server PCNT_000080 1/12994 1/8590 0/4404
?/? c.948G>C r.(?) p.(Glu316Asp) g.47766884G>C Copied from the Exome Variant Server PCNT_000081 1/12994 1/8590 0/4404
?/? c.954G>A r.(=) p.(=) g.47766890G>A Copied from the Exome Variant Server PCNT_000082 1/12998 1/8592 0/4406
?/? c.959G>A r.(?) p.(Arg320Lys) g.47766895G>A Copied from the Exome Variant Server PCNT_000083 1/13000 1/8594 0/4406
?/? c.1002A>G r.(=) p.(=) g.47767396A>G Copied from the Exome Variant Server PCNT_000084 1/13006 1/8600 0/4406
?/? c.1032+6C>T r.(=) p.(=) g.47767432C>T Copied from the Exome Variant Server PCNT_000085 2/13006 2/8600 0/4406
?/? c.1032+27C>T r.(=) p.(=) g.47767453C>T Copied from the Exome Variant Server PCNT_000086 1/13006 1/8600 0/4406
?/? c.1032+28G>A r.(=) p.(=) g.47767454G>A Copied from the Exome Variant Server PCNT_000087 1/13006 0/8600 1/4406
?/? c.1032+56C>T r.(=) p.(=) g.47767482C>T Copied from the Exome Variant Server PCNT_000088 248/4566 202/3182 46/1384
?/? c.1033-22_1033-21insT r.(=) p.(=) g.47768904_47768905insT Copied from the Exome Variant Server PCNT_000089 54/12186 41/8132 13/4054
?/? c.1107T>C r.(=) p.(=) g.47769000T>C Copied from the Exome Variant Server PCNT_000090 12/13006 0/8600 12/4406
?/? c.1122G>A r.(=) p.(=) g.47769015G>A Copied from the Exome Variant Server PCNT_000091 1/13006 0/8600 1/4406
?/? c.1181T>C r.(?) p.(Ile394Thr) g.47769074T>C Copied from the Exome Variant Server PCNT_000092 2/13006 2/8600 0/4406
?/? c.1207+9T>C r.(=) p.(=) g.47769109T>C Copied from the Exome Variant Server PCNT_000093 1/13006 1/8600 0/4406
?/? c.1207+34A>T r.(=) p.(=) g.47769134A>T Copied from the Exome Variant Server PCNT_000094 3307/13006 1187/8600 2120/4406
?/? c.1207+40T>C r.(=) p.(=) g.47769140T>C Copied from the Exome Variant Server PCNT_000095 1/13006 0/8600 1/4406
?/? c.1207+52G>T r.(=) p.(=) g.47769152G>T Copied from the Exome Variant Server PCNT_000096 9/7272 8/4618 1/2654
?/? c.1208-42G>A r.(=) p.(=) g.47769556G>A Copied from the Exome Variant Server PCNT_000097 1/13006 1/8600 0/4406
?/? c.1208-23G>A r.(=) p.(=) g.47769575G>A Copied from the Exome Variant Server PCNT_000098 1/13006 1/8600 0/4406
?/? c.1275C>T r.(=) p.(=) g.47769665C>T Copied from the Exome Variant Server PCNT_000099 1/13006 0/8600 1/4406
?/? c.1281C>T r.(=) p.(=) g.47769671C>T Copied from the Exome Variant Server PCNT_000100 1/13006 1/8600 0/4406
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