All transcript variants in gene KCMF1

Information The variants shown are described using the NM_020122.4 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.17-50C>T r.(=) p.(=) g.85254962C>T Copied from the Exome Variant Server KCMF1_000001 39/11910 36/8206 3/3704
?/? c.17-11T>C r.(=) p.(=) g.85255001T>C Copied from the Exome Variant Server KCMF1_000002 1/11956 0/8242 1/3714
?/? c.84C>T r.(=) p.(=) g.85255079C>T Copied from the Exome Variant Server KCMF1_000003 1/12142 0/8298 1/3844
?/? c.123A>C r.(=) p.(=) g.85255118A>C Copied from the Exome Variant Server KCMF1_000004 1/12124 1/8292 0/3832
?/? c.124A>G r.(?) p.(Thr42Ala) g.85255119A>G Copied from the Exome Variant Server KCMF1_000005 2/12126 0/8294 2/3832
?/? c.144T>C r.(=) p.(=) g.85255139T>C Copied from the Exome Variant Server KCMF1_000006 1/12086 0/8278 1/3808
?/? c.175G>T r.(?) p.(Val59Leu) g.85255170G>T Copied from the Exome Variant Server KCMF1_000007 1/11942 1/8224 0/3718
?/? c.185-11T>G r.(=) p.(=) g.85262128T>G Copied from the Exome Variant Server KCMF1_000008 1/11818 0/8152 1/3666
?/? c.222G>C r.(?) p.(Gln74His) g.85262176G>C Copied from the Exome Variant Server KCMF1_000009 4/11882 4/8166 0/3716
?/? c.258G>A r.(?) p.(Met86Ile) g.85262212G>A Copied from the Exome Variant Server KCMF1_000010 1/11918 1/8198 0/3720
?/? c.266C>T r.(?) p.(Thr89Met) g.85262220C>T Copied from the Exome Variant Server KCMF1_000011 1/11934 1/8210 0/3724
?/? c.324+25C>T r.(=) p.(=) g.85262303C>T Copied from the Exome Variant Server KCMF1_000012 73/11966 72/8222 1/3744
?/? c.325-50T>A r.(=) p.(=) g.85270637T>A Copied from the Exome Variant Server KCMF1_000013 2/12108 2/8244 0/3864
?/? c.325-38G>A r.(=) p.(=) g.85270649G>A Copied from the Exome Variant Server KCMF1_000014 2/12160 2/8256 0/3904
?/? c.325-15T>G r.(=) p.(=) g.85270672T>G Copied from the Exome Variant Server KCMF1_000015 1/12286 1/8318 0/3968
?/? c.426+25A>G r.(=) p.(=) g.85270813A>G Copied from the Exome Variant Server KCMF1_000016 8/11944 7/8214 1/3730
?/? c.427-41T>A r.(=) p.(=) g.85273186T>A Copied from the Exome Variant Server KCMF1_000017 2/11830 0/8168 2/3662
?/? c.427-30C>T r.(=) p.(=) g.85273197C>T Copied from the Exome Variant Server KCMF1_000018 1/11836 1/8168 0/3668
?/? c.427-26C>A r.(=) p.(=) g.85273201C>A Copied from the Exome Variant Server KCMF1_000019 3/11832 0/8166 3/3666
?/? c.427-25G>A r.(=) p.(=) g.85273202G>A Copied from the Exome Variant Server KCMF1_000020 1/11836 0/8166 1/3670
?/? c.427-25_427-24insT r.(=) p.(=) g.85273202_85273203insT Copied from the Exome Variant Server KCMF1_000021 47/11356 29/7824 18/3532
?/? c.461T>C r.(?) p.(Met154Thr) g.85273261T>C Copied from the Exome Variant Server KCMF1_000022 1/11970 0/8206 1/3764
?/? c.466C>T r.(?) p.(His156Tyr) g.85273266C>T Copied from the Exome Variant Server KCMF1_000023 1/11974 1/8208 0/3766
?/? c.601+20A>G r.(=) p.(=) g.85273421A>G Copied from the Exome Variant Server KCMF1_000024 3/11942 3/8208 0/3734
?/? c.601+52T>A r.(=) p.(=) g.85273453T>A Copied from the Exome Variant Server KCMF1_000025 1/6182 0/4222 1/1960
?/? c.602-46T>A r.(=) p.(=) g.85276443T>A Copied from the Exome Variant Server KCMF1_000026 1/12206 1/8310 0/3896
?/? c.615G>A r.(=) p.(=) g.85276502G>A Copied from the Exome Variant Server KCMF1_000027 5/12406 5/8360 0/4046
?/? c.750C>T r.(=) p.(=) g.85276637C>T Copied from the Exome Variant Server KCMF1_000028 3/12984 0/8592 3/4392
?/? c.759C>T r.(=) p.(=) g.85276646C>T Copied from the Exome Variant Server KCMF1_000029 26/12984 0/8592 26/4392
?/? c.784A>G r.(?) p.(Ser262Gly) g.85276671A>G Copied from the Exome Variant Server KCMF1_000030 1/12968 1/8584 0/4384
?/? c.885-20T>C r.(=) p.(=) g.85280251T>C Copied from the Exome Variant Server KCMF1_000031 7/11924 6/8204 1/3720
?/? c.911C>T r.(?) p.(Thr304Met) g.85280297C>T Copied from the Exome Variant Server KCMF1_000032 1/12100 1/8272 0/3828
?/? c.1020T>C r.(=) p.(=) g.85280406T>C Copied from the Exome Variant Server KCMF1_000033 73/12206 1/8298 72/3908
?/? c.1022G>A r.(?) p.(Arg341Gln) g.85280408G>A Copied from the Exome Variant Server KCMF1_000034 1/12182 0/8286 1/3896
?/? c.1023G>C r.(=) p.(=) g.85280409G>C Copied from the Exome Variant Server KCMF1_000035 2/12190 0/8288 2/3902
?/? c.*15G>A r.(=) p.(=) g.85280547G>A Copied from the Exome Variant Server KCMF1_000036 1/12250 1/8318 0/3932
?/? c.*22A>G r.(=) p.(=) g.85280554A>G Copied from the Exome Variant Server KCMF1_000037 1/12236 1/8312 0/3924
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