All transcript variants in gene USP22

Information The variants shown are described using the NM_015276.1 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-6C>T r.(=) p.(=) g.20946154G>A Copied from the Exome Variant Server USP22_000099 5/9402 5/6500 0/2902
?/? c.-1C>T r.(=) p.(=) g.20946149G>A Copied from the Exome Variant Server USP22_000098 4/9850 0/6804 4/3046
?/? c.43G>A r.(?) p.(Glu15Lys) g.20946106C>T Copied from the Exome Variant Server USP22_000097 1/11442 1/7874 0/3568
?/? c.51G>T r.(=) p.(=) g.20946098C>A Copied from the Exome Variant Server USP22_000096 12/11540 0/7936 12/3604
?/? c.172-38T>C r.(=) p.(=) g.20932025A>G Copied from the Exome Variant Server USP22_000095 1/12486 1/8372 0/4114
?/? c.172-18_172-16del r.(=) p.(=) g.20932003_20932005del Copied from the Exome Variant Server USP22_000094 2/11978 1/8040 1/3938
?/? c.241T>G r.(?) p.(Phe81Val) g.20931918A>C Copied from the Exome Variant Server USP22_000093 1/12348 0/8340 1/4008
?/? c.242T>C r.(?) p.(Phe81Ser) g.20931917A>G Copied from the Exome Variant Server USP22_000092 1/12338 1/8334 0/4004
?/? c.282G>A r.(=) p.(=) g.20931877C>T Copied from the Exome Variant Server USP22_000091 1/12238 1/8308 0/3930
?/? c.287C>T r.(?) p.(Ala96Val) g.20931872G>A Copied from the Exome Variant Server USP22_000090 1/12220 1/8298 0/3922
?/? c.304+20del r.(=) p.(=) g.20931835del Copied from the Exome Variant Server USP22_000089 3/11592 1/7896 2/3696
?/? c.304+25G>A r.(=) p.(=) g.20931830C>T Copied from the Exome Variant Server USP22_000088 1/12096 1/8250 0/3846
?/? c.304+33G>T r.(=) p.(=) g.20931822C>A Copied from the Exome Variant Server USP22_000087 5/12084 3/8244 2/3840
?/? c.304+39C>T r.(=) p.(=) g.20931816G>A Copied from the Exome Variant Server USP22_000086 1/12072 1/8244 0/3828
?/? c.305-14C>T r.(=) p.(=) g.20924553G>A Copied from the Exome Variant Server USP22_000085 3/12294 0/8328 3/3966
?/? c.321C>T r.(=) p.(=) g.20924523G>A Copied from the Exome Variant Server USP22_000084 8637/12262 6597/8324 2040/3938
?/? c.354C>T r.(=) p.(=) g.20924490G>A Copied from the Exome Variant Server USP22_000083 1/12328 0/8350 1/3978
?/? c.359A>G r.(?) p.(Tyr120Cys) g.20924485T>C Copied from the Exome Variant Server USP22_000082 1/12322 1/8350 0/3972
?/? c.418+45C>T r.(=) p.(=) g.20924381G>A Copied from the Exome Variant Server USP22_000081 1/12456 1/8368 0/4088
?/? c.419-32A>G r.(=) p.(=) g.20922530T>C Copied from the Exome Variant Server USP22_000080 2/12288 2/8332 0/3956
?/? c.419-31T>A r.(=) p.(=) g.20922529A>T Copied from the Exome Variant Server USP22_000079 1/12292 1/8336 0/3956
?/? c.419-11C>A r.(=) p.(=) g.20922509G>T Copied from the Exome Variant Server USP22_000078 1/12214 0/8302 1/3912
?/? c.419-7T>A r.(=) p.(=) g.20922505A>T Copied from the Exome Variant Server USP22_000077 1/12194 1/8302 0/3892
?/? c.420C>T r.(=) p.(=) g.20922497G>A Copied from the Exome Variant Server USP22_000076 1/12184 1/8302 0/3882
?/? c.422T>C r.(?) p.(Val141Ala) g.20922495A>G Copied from the Exome Variant Server USP22_000075 1/12188 1/8306 0/3882
?/? c.507G>A r.(=) p.(=) g.20922410C>T Copied from the Exome Variant Server USP22_000074 127/12142 2/8272 125/3870
?/? c.520+6T>A r.(=) p.(=) g.20922391A>T Copied from the Exome Variant Server USP22_000073 1/12134 0/8280 1/3854
?/? c.520+17G>A r.(=) p.(=) g.20922380C>T Copied from the Exome Variant Server USP22_000072 212/12114 9/8282 203/3832
?/? c.520+44G>A r.(=) p.(=) g.20922353C>T Copied from the Exome Variant Server USP22_000071 3/12026 3/8248 0/3778
?/? c.521-50C>T r.(=) p.(=) g.20921474G>A Copied from the Exome Variant Server USP22_000070 2/12556 0/8420 2/4136
?/? c.521-45G>A r.(=) p.(=) g.20921469C>T Copied from the Exome Variant Server USP22_000069 1/12592 0/8432 1/4160
?/? c.521-30A>G r.(=) p.(=) g.20921454T>C Copied from the Exome Variant Server USP22_000068 35/12654 0/8456 35/4198
?/? c.521-20C>T r.(=) p.(=) g.20921444G>A Copied from the Exome Variant Server USP22_000067 5/12704 0/8466 5/4238
?/? c.570C>T r.(=) p.(=) g.20921375G>A Copied from the Exome Variant Server USP22_000066 1/12798 1/8506 0/4292
?/? c.609C>T r.(=) p.(=) g.20921336G>A Copied from the Exome Variant Server USP22_000065 1/12646 1/8458 0/4188
?/? c.690+7G>A r.(=) p.(=) g.20921248C>T Copied from the Exome Variant Server USP22_000064 1/12240 1/8306 0/3934
?/? c.691-53_691-52del r.(=) p.(=) g.20919264_20919265del Copied from the Exome Variant Server USP22_000063 1/11560 1/7882 0/3678
?/? c.708G>C r.(=) p.(=) g.20919195C>G Copied from the Exome Variant Server USP22_000062 1/12322 0/8318 1/4004
?/? c.711C>G r.(=) p.(=) g.20919192G>C Copied from the Exome Variant Server USP22_000061 1/12322 1/8314 0/4008
?/? c.756G>A r.(=) p.(=) g.20919147C>T Copied from the Exome Variant Server USP22_000060 1/12466 0/8368 1/4098
?/? c.838+20C>T r.(=) p.(=) g.20919045G>A Copied from the Exome Variant Server USP22_000059 1/12350 1/8312 0/4038
?/? c.838+30G>A r.(=) p.(=) g.20919035C>T Copied from the Exome Variant Server USP22_000058 1/12288 1/8300 0/3988
?/? c.944+23G>A r.(=) p.(=) g.20916120C>T Copied from the Exome Variant Server USP22_000057 1/12554 1/8422 0/4132
?/? c.944+27A>G r.(=) p.(=) g.20916116T>C Copied from the Exome Variant Server USP22_000056 1/12538 0/8420 1/4118
?/? c.944+41G>A r.(=) p.(=) g.20916102C>T Copied from the Exome Variant Server USP22_000055 1/12462 1/8392 0/4070
?/? c.944+46C>T r.(=) p.(=) g.20916097G>A Copied from the Exome Variant Server USP22_000054 140/12456 4/8384 136/4072
?/? c.945-13C>T r.(=) p.(=) g.20914635G>A Copied from the Exome Variant Server USP22_000053 2889/12346 1729/8234 1160/4112
?/? c.1020C>G r.(=) p.(=) g.20914547G>C Copied from the Exome Variant Server USP22_000052 122/12526 118/8402 4/4124
?/? c.1044C>T r.(=) p.(=) g.20914523G>A Copied from the Exome Variant Server USP22_000051 4/12568 0/8420 4/4148
?/? c.1077C>G r.(=) p.(=) g.20914490G>C Copied from the Exome Variant Server USP22_000050 12/12656 0/8448 12/4208
?/? c.1082C>T r.(?) p.(Thr361Met) g.20914485G>A Copied from the Exome Variant Server USP22_000049 3/12652 1/8444 2/4208
?/? c.1083G>A r.(=) p.(=) g.20914484C>T Copied from the Exome Variant Server USP22_000048 2/12650 2/8438 0/4212
?/? c.1098G>A r.(=) p.(=) g.20914469C>T Copied from the Exome Variant Server USP22_000047 2/12640 0/8440 2/4200
?/? c.1103+13C>T r.(=) p.(=) g.20914451G>A Copied from the Exome Variant Server USP22_000046 1/12606 1/8426 0/4180
?/? c.1103+21C>G r.(=) p.(=) g.20914443G>C Copied from the Exome Variant Server USP22_000045 2/12554 2/8418 0/4136
?/? c.1103+29del r.(=) p.(=) g.20914435del Copied from the Exome Variant Server USP22_000044 10/11902 7/7984 3/3918
?/? c.1103+31G>A r.(=) p.(=) g.20914433C>T Copied from the Exome Variant Server USP22_000043 2/12496 1/8386 1/4110
?/? c.1103+45G>T r.(=) p.(=) g.20914419C>A Copied from the Exome Variant Server USP22_000042 2/12452 0/8376 2/4076
?/? c.1104-43T>C r.(=) p.(=) g.20911352A>G Copied from the Exome Variant Server USP22_000041 2/11952 0/8230 2/3722
?/? c.1104-39A>T r.(=) p.(=) g.20911348T>A Copied from the Exome Variant Server USP22_000040 3/11958 0/8230 3/3728
?/? c.1104-28C>T r.(=) p.(=) g.20911337G>A Copied from the Exome Variant Server USP22_000039 2/11960 1/8226 1/3734
?/? c.1104-25T>G r.(=) p.(=) g.20911334A>C Copied from the Exome Variant Server USP22_000038 2/11966 2/8232 0/3734
?/? c.1128C>T r.(=) p.(=) g.20911285G>A Copied from the Exome Variant Server USP22_000037 3/12142 3/8294 0/3848
?/? c.1209C>A r.(=) p.(=) g.20911204G>T Copied from the Exome Variant Server USP22_000035 1989/12142 1813/8302 176/3840
?/? c.1230+4A>G r.spl? p.? g.20911179T>C Copied from the Exome Variant Server USP22_000033 1/12070 1/8276 0/3794
?/? c.1230+10C>A r.(=) p.(=) g.20911173G>T Copied from the Exome Variant Server USP22_000031 1663/12064 1237/8278 426/3786
?/? c.1230+22C>T r.(=) p.(=) g.20911161G>A Copied from the Exome Variant Server USP22_000029 16/12066 15/8276 1/3790
?/? c.1230+38_1230+39insA r.(=) p.(=) g.20911144_20911145insT Copied from the Exome Variant Server USP22_000027 1/11564 0/7924 1/3640
?/? c.1231-49A>G r.(=) p.(=) g.20910349T>C Copied from the Exome Variant Server USP22_000025 1/12062 0/8222 1/3840
?/? c.1231-45del r.(=) p.(=) g.20910345del Copied from the Exome Variant Server USP22_000023 15/11596 0/7878 15/3718
?/? c.1231-17C>G r.(=) p.(=) g.20910317G>C Copied from the Exome Variant Server USP22_000021 103/12090 91/8246 12/3844
?/? c.1272G>A r.(=) p.(=) g.20910259C>T Copied from the Exome Variant Server USP22_000019 1/12152 1/8276 0/3876
?/? c.1322+24C>T r.(=) p.(=) g.20910185G>A Copied from the Exome Variant Server USP22_000036 1/12044 1/8256 0/3788
?/? c.1322+30C>T r.(=) p.(=) g.20910179G>A Copied from the Exome Variant Server USP22_000034 1/12044 1/8258 0/3786
?/? c.1323-66C>T r.(=) p.(=) g.20908369G>A Copied from the Exome Variant Server USP22_000032 1/4566 1/3182 0/1384
?/? c.1323-22A>G r.(=) p.(=) g.20908325T>C Copied from the Exome Variant Server USP22_000030 9611/12518 6676/8394 2935/4124
?/? c.1323-15C>T r.(=) p.(=) g.20908318G>A Copied from the Exome Variant Server USP22_000028 3/12520 0/8402 3/4118
?/? c.1323-3C>T r.spl? p.? g.20908306G>A Copied from the Exome Variant Server USP22_000026 22/12542 0/8416 22/4126
?/? c.1341T>C r.(=) p.(=) g.20908285A>G Copied from the Exome Variant Server USP22_000024 1/12572 1/8428 0/4144
?/? c.1385+11C>G r.(=) p.(=) g.20908230G>C Copied from the Exome Variant Server USP22_000022 1/12452 0/8364 1/4088
?/? c.1385+17G>A r.(=) p.(=) g.20908224C>T Copied from the Exome Variant Server USP22_000020 222/12438 8/8358 214/4080
?/? c.1386-34C>G r.(=) p.(=) g.20907698G>C Copied from the Exome Variant Server USP22_000018 1/12788 1/8504 0/4284
?/? c.1386-9C>T r.(=) p.(=) g.20907673G>A Copied from the Exome Variant Server USP22_000016 109/12850 1/8552 108/4298
?/? c.1386-5A>G r.spl? p.? g.20907669T>C Copied from the Exome Variant Server USP22_000014 2/12846 0/8548 2/4298
?/? c.1453C>T r.(?) p.(Arg485Trp) g.20907597G>A Copied from the Exome Variant Server USP22_000013 1/12976 0/8592 1/4384
?/? c.1535+15G>T r.(=) p.(=) g.20907500C>A Copied from the Exome Variant Server USP22_000012 1/12926 1/8550 0/4376
?/? c.1535+32C>T r.(=) p.(=) g.20907483G>A Copied from the Exome Variant Server USP22_000011 3/12878 3/8540 0/4338
?/? c.1535+37_1535+45del r.(=) p.(=) g.20907470_20907478del Copied from the Exome Variant Server USP22_000010 7/12290 5/8150 2/4140
?/? c.1536-55T>C r.(=) p.(=) g.20906441A>G Copied from the Exome Variant Server USP22_000009 12/4566 0/3182 12/1384
?/? c.1536-50C>T r.(=) p.(=) g.20906436G>A Copied from the Exome Variant Server USP22_000008 2/12412 2/8362 0/4050
?/? c.1536-34G>C r.(=) p.(=) g.20906420C>G Copied from the Exome Variant Server USP22_000007 1/12438 1/8376 0/4062
?/? c.*40T>C r.(=) p.(=) g.20906304A>G Copied from the Exome Variant Server USP22_000006 1/12158 1/8276 0/3882
?/? c.*50C>T r.(=) p.(=) g.20906294G>A Copied from the Exome Variant Server USP22_000005 33/12086 31/8248 2/3838
?/? c.*71_*72insA r.(=) p.(=) g.20906272_20906273insT Copied from the Exome Variant Server USP22_000004 1954/11448 1774/7856 180/3592
?/? c.*72dup r.(=) p.(=) g.20906272dup Copied from the Exome Variant Server USP22_000003 1179/11448 117/7856 1062/3592
?/? c.*76del r.(=) p.(=) g.20906268del Copied from the Exome Variant Server USP22_000002 7/11368 6/7828 1/3540
?/? c.*76dup r.(=) p.(=) g.20906268dup Copied from the Exome Variant Server USP22_000001 3085/11368 1880/7828 1205/3540
?/? c.*76_*77del r.(=) p.(=) g.20906267_20906268del Copied from the Exome Variant Server USP22_000015 1/11368 1/7828 0/3540
?/? c.*76_*77dup r.(=) p.(=) g.20906267_20906268dup Copied from the Exome Variant Server USP22_000017 45/11368 0/7828 45/3540
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