All transcript variants in gene PFKM

Information The variants shown are described using the NM_000289.5 transcript reference sequence.

159 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.-8-34C>T r.(=) p.(=) g.48516516C>T Copied from the Exome Variant Server PFKM_000001 1/13006 0/8600 1/4406
?/? c.5C>T r.(?) p.(Thr2Ile) g.48516562C>T Copied from the Exome Variant Server PFKM_000002 1/13006 1/8600 0/4406
?/? c.41T>C r.(?) p.(Ile14Thr) g.48516598T>C Copied from the Exome Variant Server PFKM_000004 12/13006 0/8600 12/4406
?/? c.52A>G r.(?) p.(Ile18Val) g.48516609A>G Copied from the Exome Variant Server PFKM_000006 4/13006 0/8600 4/4406
?/? c.86-54G>T r.(=) p.(=) g.48524092G>T Copied from the Exome Variant Server PFKM_000008 86/4566 1/3182 85/1384
?/? c.86-52C>T r.(=) p.(=) g.48524094C>T Copied from the Exome Variant Server PFKM_000010 6/10300 6/7164 0/3136
?/? c.86-48del r.(=) p.(=) g.48524098del Copied from the Exome Variant Server PFKM_000003 5/12518 1/8254 4/4264
?/? c.86-26G>A r.(=) p.(=) g.48524120G>A Copied from the Exome Variant Server PFKM_000005 1/13006 1/8600 0/4406
?/? c.86-22C>G r.(=) p.(=) g.48524124C>G Copied from the Exome Variant Server PFKM_000007 1/13006 0/8600 1/4406
?/? c.116G>A r.(?) p.(Arg39Gln) g.48524176G>A Copied from the Exome Variant Server PFKM_000009 1/13006 1/8600 0/4406
?/? c.156T>C r.(=) p.(=) g.48524216T>C Copied from the Exome Variant Server PFKM_000011 1/13006 0/8600 1/4406
?/? c.159+35T>C r.(=) p.(=) g.48524254T>C Copied from the Exome Variant Server PFKM_000012 1/13006 1/8600 0/4406
?/? c.160-44A>G r.(=) p.(=) g.48525055A>G Copied from the Exome Variant Server PFKM_000013 113/13006 0/8600 113/4406
?/? c.185G>A r.(?) p.(Gly62Glu) g.48525124G>A Copied from the Exome Variant Server PFKM_000014 1/13006 1/8600 0/4406
?/? c.237+3A>T r.spl? p.? g.48525179A>T Copied from the Exome Variant Server PFKM_000015 1/13006 0/8600 1/4406
?/? c.237+4T>A r.spl? p.? g.48525180T>A Copied from the Exome Variant Server PFKM_000016 1/13006 1/8600 0/4406
?/? c.237+26C>T r.(=) p.(=) g.48525202C>T Copied from the Exome Variant Server PFKM_000017 1/13006 1/8600 0/4406
?/? c.237+36C>T r.(=) p.(=) g.48525212C>T Copied from the Exome Variant Server PFKM_000018 1/13006 0/8600 1/4406
?/? c.238-17T>A r.(=) p.(=) g.48526634T>A Copied from the Exome Variant Server PFKM_000019 1/13004 0/8598 1/4406
?/? c.246G>A r.(=) p.(=) g.48526659G>A Copied from the Exome Variant Server PFKM_000020 841/13006 725/8600 116/4406
?/? c.264G>T r.(=) p.(=) g.48526677G>T Copied from the Exome Variant Server PFKM_000021 1/13006 1/8600 0/4406
?/? c.292C>T r.(?) p.(Arg98*) g.48526705C>T Copied from the Exome Variant Server PFKM_000022 1/13006 1/8600 0/4406
?/? c.298C>T r.(?) p.(Arg100*) g.48526711C>T Copied from the Exome Variant Server PFKM_000023 2/13006 0/8600 2/4406
?/? c.299G>A r.(?) p.(Arg100Gln) g.48526712G>A Copied from the Exome Variant Server PFKM_000024 2236/13006 1923/8600 313/4406
?/? c.306C>T r.(=) p.(=) g.48526719C>T Copied from the Exome Variant Server PFKM_000025 264/13006 245/8600 19/4406
?/? c.380C>T r.(?) p.(Thr127Ile) g.48526793C>T Copied from the Exome Variant Server PFKM_000026 1/13006 1/8600 0/4406
?/? c.419A>G r.(?) p.(Gln140Arg) g.48526832A>G Copied from the Exome Variant Server PFKM_000027 1/13006 0/8600 1/4406
?/? c.427+39G>A r.(=) p.(=) g.48526879G>A Copied from the Exome Variant Server PFKM_000028 2/13006 2/8600 0/4406
?/? c.427+44G>A r.(=) p.(=) g.48526884G>A Copied from the Exome Variant Server PFKM_000029 2/13006 2/8600 0/4406
?/? c.427+50G>A r.(=) p.(=) g.48526890G>A Copied from the Exome Variant Server PFKM_000030 5/13006 0/8600 5/4406
?/? c.427+52G>A r.(=) p.(=) g.48526892G>A Copied from the Exome Variant Server PFKM_000031 472/7272 389/4618 83/2654
?/? c.428-42G>A r.(=) p.(=) g.48527056G>A Copied from the Exome Variant Server PFKM_000032 4/13006 0/8600 4/4406
?/? c.428-39G>A r.(=) p.(=) g.48527059G>A Copied from the Exome Variant Server PFKM_000033 4057/13006 2705/8600 1352/4406
?/? c.428-38C>A r.(=) p.(=) g.48527060C>A Copied from the Exome Variant Server PFKM_000034 2/13006 0/8600 2/4406
?/? c.452C>T r.(?) p.(Thr151Met) g.48527122C>T Copied from the Exome Variant Server PFKM_000035 1/13006 1/8600 0/4406
?/? c.453G>A r.(=) p.(=) g.48527123G>A Copied from the Exome Variant Server PFKM_000036 7/13006 0/8600 7/4406
?/? c.459C>T r.(=) p.(=) g.48527129C>T Copied from the Exome Variant Server PFKM_000037 2/13006 0/8600 2/4406
?/? c.484G>A r.(?) p.(Val162Ile) g.48527154G>A Copied from the Exome Variant Server PFKM_000038 1/13006 1/8600 0/4406
?/? c.495T>A r.(=) p.(=) g.48527165T>A Copied from the Exome Variant Server PFKM_000039 8/13006 0/8600 8/4406
?/? c.496G>T r.(?) p.(Asp166Tyr) g.48527166G>T Copied from the Exome Variant Server PFKM_000040 1/13006 1/8600 0/4406
?/? c.500A>G r.(?) p.(Asn167Ser) g.48527170A>G Copied from the Exome Variant Server PFKM_000041 1/13006 1/8600 0/4406
?/? c.514A>G r.(?) p.(Thr172Ala) g.48527184A>G Copied from the Exome Variant Server PFKM_000042 1/13006 1/8600 0/4406
?/? c.516C>T r.(=) p.(=) g.48527186C>T Copied from the Exome Variant Server PFKM_000043 2565/13006 1160/8600 1405/4406
?/? c.534T>C r.(=) p.(=) g.48527204T>C Copied from the Exome Variant Server PFKM_000044 1/13006 1/8600 0/4406
?/? c.550C>T r.(?) p.(Arg184Trp) g.48527220C>T Copied from the Exome Variant Server PFKM_000045 2/13006 1/8600 1/4406
?/? c.551G>A r.(?) p.(Arg184Gln) g.48527221G>A Copied from the Exome Variant Server PFKM_000046 1/13006 1/8600 0/4406
?/? c.593+19T>C r.(=) p.(=) g.48527282T>C Copied from the Exome Variant Server PFKM_000047 1/13006 1/8600 0/4406
?/? c.593+27G>C r.(=) p.(=) g.48527290G>C Copied from the Exome Variant Server PFKM_000048 1/13006 0/8600 1/4406
?/? c.593+34G>A r.(=) p.(=) g.48527297G>A Copied from the Exome Variant Server PFKM_000049 1/13006 1/8600 0/4406
?/? c.594-41A>G r.(=) p.(=) g.48527974A>G Copied from the Exome Variant Server PFKM_000050 263/13006 2/8600 261/4406
?/? c.594-38G>A r.(=) p.(=) g.48527977G>A Copied from the Exome Variant Server PFKM_000051 264/13006 48/8600 216/4406
?/? c.594-36G>T r.(=) p.(=) g.48527979G>T Copied from the Exome Variant Server PFKM_000052 4/13006 4/8600 0/4406
?/? c.594-18T>A r.(=) p.(=) g.48527997T>A Copied from the Exome Variant Server PFKM_000053 1/13006 1/8600 0/4406
?/? c.638+15C>A r.(=) p.(=) g.48528074C>A Copied from the Exome Variant Server PFKM_000054 2/13006 2/8600 0/4406
?/? c.638+31G>A r.(=) p.(=) g.48528090G>A Copied from the Exome Variant Server PFKM_000055 1/13006 1/8600 0/4406
?/? c.638+41C>T r.(=) p.(=) g.48528100C>T Copied from the Exome Variant Server PFKM_000056 2/13006 1/8600 1/4406
?/? c.638+42G>A r.(=) p.(=) g.48528101G>A Copied from the Exome Variant Server PFKM_000057 2/13006 2/8600 0/4406
?/? c.638+48C>G r.(=) p.(=) g.48528107C>G Copied from the Exome Variant Server PFKM_000058 1/13006 1/8600 0/4406
?/? c.638+66G>A r.(=) p.(=) g.48528125G>A Copied from the Exome Variant Server PFKM_000059 26/4566 22/3182 4/1384
?/? c.702A>T r.(=) p.(=) g.48528567A>T Copied from the Exome Variant Server PFKM_000060 37/13006 0/8600 37/4406
?/? c.722A>G r.(?) p.(Glu241Gly) g.48528587A>G Copied from the Exome Variant Server PFKM_000061 1/13006 1/8600 0/4406
?/? c.747+24T>G r.(=) p.(=) g.48528636T>G Copied from the Exome Variant Server PFKM_000062 127/13006 4/8600 123/4406
?/? c.748-41G>C r.(=) p.(=) g.48528685G>C Copied from the Exome Variant Server PFKM_000063 12/13006 0/8600 12/4406
?/? c.820A>G r.(?) p.(Ile274Val) g.48528798A>G Copied from the Exome Variant Server PFKM_000064 4/13006 3/8600 1/4406
?/? c.843+27C>G r.(=) p.(=) g.48528848C>G Copied from the Exome Variant Server PFKM_000065 1/13006 1/8600 0/4406
?/? c.844-44G>T r.(=) p.(=) g.48529030G>T Copied from the Exome Variant Server PFKM_000066 149/13006 0/8600 149/4406
?/? c.844-38G>A r.(=) p.(=) g.48529036G>A Copied from the Exome Variant Server PFKM_000067 8/13006 0/8600 8/4406
?/? c.844-36G>A r.(=) p.(=) g.48529038G>A Copied from the Exome Variant Server PFKM_000068 1/13006 1/8600 0/4406
?/? c.844-17T>A r.(=) p.(=) g.48529057T>A Copied from the Exome Variant Server PFKM_000069 1/13006 1/8600 0/4406
?/? c.872C>G r.(?) p.(Thr291Ser) g.48529102C>G Copied from the Exome Variant Server PFKM_000070 2/13006 2/8600 0/4406
?/? c.874C>T r.(?) p.(Arg292Trp) g.48529104C>T Copied from the Exome Variant Server PFKM_000071 1/13006 1/8600 0/4406
?/? c.883G>A r.(?) p.(Val295Ile) g.48529113G>A Copied from the Exome Variant Server PFKM_000072 1/13006 1/8600 0/4406
?/? c.936+14C>T r.(=) p.(=) g.48529180C>T Copied from the Exome Variant Server PFKM_000073 1/13006 0/8600 1/4406
?/? c.936+43A>G r.(=) p.(=) g.48529209A>G Copied from the Exome Variant Server PFKM_000074 8/13006 8/8600 0/4406
?/? c.936+46C>T r.(=) p.(=) g.48529212C>T Copied from the Exome Variant Server PFKM_000075 19/13006 0/8600 19/4406
?/? c.1063-45A>C r.(=) p.(=) g.48533023A>C Copied from the Exome Variant Server PFKM_000076 5/13006 1/8600 4/4406
?/? c.1063-6C>T r.(=) p.(=) g.48533062C>T Copied from the Exome Variant Server PFKM_000077 1/13006 1/8600 0/4406
?/? c.1104C>T r.(=) p.(=) g.48533109C>T Copied from the Exome Variant Server PFKM_000078 1/13006 1/8600 0/4406
?/? c.1115A>G r.(?) p.(Lys372Arg) g.48533120A>G Copied from the Exome Variant Server PFKM_000079 1/13006 1/8600 0/4406
?/? c.1127+13C>T r.(=) p.(=) g.48533145C>T Copied from the Exome Variant Server PFKM_000080 1/13006 0/8600 1/4406
?/? c.1127+14G>A r.(=) p.(=) g.48533146G>A Copied from the Exome Variant Server PFKM_000081 1/13006 1/8600 0/4406
?/? c.1127+15G>A r.(=) p.(=) g.48533147G>A Copied from the Exome Variant Server PFKM_000082 1/13006 0/8600 1/4406
?/? c.1127+36A>G r.(=) p.(=) g.48533168A>G Copied from the Exome Variant Server PFKM_000083 1/13006 0/8600 1/4406
?/? c.1127+43G>C r.(=) p.(=) g.48533175G>C Copied from the Exome Variant Server PFKM_000084 8/13006 0/8600 8/4406
?/? c.1128-30G>C r.(=) p.(=) g.48533602G>C Copied from the Exome Variant Server PFKM_000085 1/13006 0/8600 1/4406
?/? c.1137G>C r.(?) p.(Met379Ile) g.48533641G>C Copied from the Exome Variant Server PFKM_000086 1/13006 1/8600 0/4406
?/? c.1155C>T r.(=) p.(=) g.48533659C>T Copied from the Exome Variant Server PFKM_000087 3/13006 0/8600 3/4406
?/? c.1182G>A r.(=) p.(=) g.48533686G>A Copied from the Exome Variant Server PFKM_000088 1/13006 1/8600 0/4406
?/? c.1191+4C>T r.spl? p.? g.48533699C>T Copied from the Exome Variant Server PFKM_000089 1/13006 0/8600 1/4406
?/? c.1191+48_1191+49insA r.(=) p.(=) g.48533743_48533744insA Copied from the Exome Variant Server PFKM_000090 5/12518 3/8254 2/4264
?/? c.1192-48C>A r.(=) p.(=) g.48534457C>A Copied from the Exome Variant Server PFKM_000091 1/13004 1/8598 0/4406
?/? c.1192-47C>T r.(=) p.(=) g.48534458C>T Copied from the Exome Variant Server PFKM_000092 1/13004 1/8598 0/4406
?/? c.1192-5_1192-4del r.spl? p.? g.48534500_48534501del Copied from the Exome Variant Server PFKM_000093 5/12518 0/8254 5/4264
?/? c.1192-3T>C r.spl? p.? g.48534502T>C Copied from the Exome Variant Server PFKM_000094 1/13006 1/8600 0/4406
?/? c.1295G>A r.(?) p.(Arg432Gln) g.48534608G>A Copied from the Exome Variant Server PFKM_000095 1/13006 1/8600 0/4406
?/? c.1311T>C r.(=) p.(=) g.48534624T>C Copied from the Exome Variant Server PFKM_000096 1/13006 1/8600 0/4406
?/? c.1331C>T r.(?) p.(Ala444Val) g.48534644C>T Copied from the Exome Variant Server PFKM_000097 1/13006 1/8600 0/4406
?/? c.1338G>A r.(=) p.(=) g.48534651G>A Copied from the Exome Variant Server PFKM_000098 27/13006 23/8600 4/4406
?/? c.1339C>A r.(?) p.(Gln447Lys) g.48534652C>A Copied from the Exome Variant Server PFKM_000099 29/13006 25/8600 4/4406
?/? c.1341+24A>G r.(=) p.(=) g.48534678A>G Copied from the Exome Variant Server PFKM_000100 2/13006 0/8600 2/4406
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