Unique variants in gene CHTF8

Information The variants shown are described using the NM_001039690.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-35-51A>G r.(=) p.(=) g.69155447T>C Copied from the Exome Variant Server CHTF8_000043 13/4566 10/3182 3/1384
1 c.-35-42T>A r.(=) p.(=) g.69155438A>T Copied from the Exome Variant Server CHTF8_000042 5/4566 1/3182 4/1384
1 c.-35-35_-35-33del r.(=) p.(=) g.69155429_69155431del Copied from the Exome Variant Server CHTF8_000041 8/11414 5/7844 3/3570
1 c.-32G>C r.(=) p.(=) g.69155393C>G Copied from the Exome Variant Server CHTF8_000040 7/11836 0/8170 7/3666
1 c.23+30G>T r.(=) p.(=) g.69155309C>A Copied from the Exome Variant Server CHTF8_000039 379/12010 355/8230 24/3780
1 c.23+48del r.(=) p.(=) g.69155291del Copied from the Exome Variant Server CHTF8_000038 4/11628 4/7902 0/3726
1 c.23+63T>C r.(=) p.(=) g.69155276A>G Copied from the Exome Variant Server CHTF8_000037 1/4566 1/3182 0/1384
1 c.24-37C>G r.(=) p.(=) g.69155110G>C Copied from the Exome Variant Server CHTF8_000036 7/12054 6/8234 1/3820
1 c.24-25G>A r.(=) p.(=) g.69155098C>T Copied from the Exome Variant Server CHTF8_000035 1/12020 1/8220 0/3800
1 c.26C>T r.(?) p.(Ala9Val) g.69155071G>A Copied from the Exome Variant Server CHTF8_000034 1/12074 1/8242 0/3832
1 c.83C>T r.(?) p.(Ala28Val) g.69155014G>A Copied from the Exome Variant Server CHTF8_000033 1/12230 1/8310 0/3920
1 c.85C>T r.(?) p.(Arg29Cys) g.69155012G>A Copied from the Exome Variant Server CHTF8_000032 1/12220 1/8304 0/3916
1 c.141+21C>T r.(=) p.(=) g.69154935G>A Copied from the Exome Variant Server CHTF8_000031 1/12190 1/8294 0/3896
1 c.141+31C>T r.(=) p.(=) g.69154925G>A Copied from the Exome Variant Server CHTF8_000030 1/12228 0/8300 1/3928
1 c.142-47T>C r.(=) p.(=) g.69154599A>G Copied from the Exome Variant Server CHTF8_000029 229/12200 207/8288 22/3912
1 c.142-39C>T r.(=) p.(=) g.69154591G>A Copied from the Exome Variant Server CHTF8_000028 1/12210 1/8290 0/3920
1 c.142-36C>G r.(=) p.(=) g.69154588G>C Copied from the Exome Variant Server CHTF8_000027 13/12196 13/8290 0/3906
1 c.142-25G>A r.(=) p.(=) g.69154577C>T Copied from the Exome Variant Server CHTF8_000026 1/12178 1/8280 0/3898
1 c.142-23A>C r.(=) p.(=) g.69154575T>G Copied from the Exome Variant Server CHTF8_000025 2/12184 0/8286 2/3898
1 c.152T>G r.(?) p.(Val51Gly) g.69154542A>C Copied from the Exome Variant Server CHTF8_000024 1/12230 0/8300 1/3930
1 c.174C>T r.(=) p.(=) g.69154520G>A Copied from the Exome Variant Server CHTF8_000023 12/12232 12/8302 0/3930
1 c.186A>G r.(=) p.(=) g.69154508T>C Copied from the Exome Variant Server CHTF8_000022 9/12236 1/8306 8/3930
1 c.187A>G r.(?) p.(Ile63Val) g.69154507T>C Copied from the Exome Variant Server CHTF8_000021 1/12236 1/8308 0/3928
1 c.198G>C r.(=) p.(=) g.69154496C>G Copied from the Exome Variant Server CHTF8_000020 1/12220 1/8300 0/3920
1 c.206C>T r.(?) p.(Pro69Leu) g.69154488G>A Copied from the Exome Variant Server CHTF8_000019 1/12236 1/8304 0/3932
1 c.226C>T r.(?) p.(His76Tyr) g.69154468G>A Copied from the Exome Variant Server CHTF8_000018 1/12212 1/8302 0/3910
1 c.262C>T r.(?) p.(Arg88Cys) g.69154432G>A Copied from the Exome Variant Server CHTF8_000017 1/12144 1/8280 0/3864
1 c.278G>A r.(?) p.(Arg93Gln) g.69154416C>T Copied from the Exome Variant Server CHTF8_000016 1/12062 0/8252 1/3810
1 c.348C>G r.(?) p.(Ser116Arg) g.69154346G>C Copied from the Exome Variant Server CHTF8_000015 1/11994 1/8218 0/3776
1 c.357G>A r.(=) p.(=) g.69154337C>T Copied from the Exome Variant Server CHTF8_000013 1/11976 0/8214 1/3762
1 c.*44T>A r.(=) p.(=) g.69154284A>T Copied from the Exome Variant Server CHTF8_000014 1/12088 1/8238 0/3850
1 c.*1937C>A r.(=) p.(=) g.69152391G>T Copied from the Exome Variant Server CHTF8_000012 309/12996 241/8600 68/4396
1 c.*1947C>T r.(=) p.(=) g.69152381G>A Copied from the Exome Variant Server CHTF8_000011 1/12996 1/8600 0/4396
1 c.*1965A>C r.(?) p.(*282Glyext*86) g.69152363T>G Copied from the Exome Variant Server CHTF8_000010 1/12996 1/8600 0/4396
1 c.*1980C>T r.(?) p.(Val277Ile) g.69152348G>A Copied from the Exome Variant Server CHTF8_000009 1/12996 1/8600 0/4396
1 c.*1996G>A r.(=) p.(=) g.69152332C>T Copied from the Exome Variant Server CHTF8_000008 1/12996 1/8600 0/4396
1 c.*2004C>T r.(?) p.(Ala269Thr) g.69152324G>A Copied from the Exome Variant Server CHTF8_000007 1/12996 0/8600 1/4396
1 c.*2009G>A r.(?) p.(Thr267Met) g.69152319C>T Copied from the Exome Variant Server CHTF8_000006 4/12996 0/8600 4/4396
1 c.*2046C>T r.(?) p.(Glu255Lys) g.69152282G>A Copied from the Exome Variant Server CHTF8_000005 9/12996 7/8600 2/4396
1 c.*2081_*2082del r.(=) p.(=) g.69152246_69152247del Copied from the Exome Variant Server CHTF8_000004 39/12518 31/8254 8/4264
1 c.*2085A>G r.(=) p.(=) g.69152243T>C Copied from the Exome Variant Server CHTF8_000003 2/12996 1/8600 1/4396
1 c.*2091del r.(=) p.(=) g.69152237del Copied from the Exome Variant Server CHTF8_000002 1/12516 1/8254 0/4262
1 c.*2100C>T r.(=) p.(=) g.69152228G>A Copied from the Exome Variant Server CHTF8_000001 1/12996 1/8600 0/4396
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