Unique variants in gene MZB1

Information The variants shown are described using the NM_016459.3 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.-52_-49del r.(=) p.(=) g.138725594_138725597del Copied from the Exome Variant Server MZB1_000035 2/9856 2/6442 0/3414
1 c.25C>T r.(=) p.(=) g.138725521G>A Copied from the Exome Variant Server MZB1_000033 35/11886 34/7874 1/4012
1 c.34_36del r.(?) p.(Leu12del) g.138725510_138725512del Copied from the Exome Variant Server MZB1_000031 70/10852 48/7170 22/3682
1 c.34_36dup r.(?) p.(Leu12dup) g.138725510_138725512dup Copied from the Exome Variant Server MZB1_000039 4/10852 1/7170 3/3682
1 c.50T>C r.(?) p.(Ile17Thr) g.138725496A>G Copied from the Exome Variant Server MZB1_000038 91/12400 5/8186 86/4214
1 c.98A>C r.(?) p.(Gln33Pro) g.138725448T>G Copied from the Exome Variant Server MZB1_000037 1/12924 0/8552 1/4372
1 c.111G>T r.(?) p.(Glu37Asp) g.138725435C>A Copied from the Exome Variant Server MZB1_000036 1/12956 1/8574 0/4382
1 c.145C>T r.(?) p.(Arg49Cys) g.138725401G>A Copied from the Exome Variant Server MZB1_000034 1/12976 0/8580 1/4396
1 c.177+3G>A r.spl? p.? g.138725366C>T Copied from the Exome Variant Server MZB1_000032 5/12964 0/8570 5/4394
1 c.230G>A r.(?) p.(Gly77Glu) g.138724222C>T Copied from the Exome Variant Server MZB1_000030 17/12082 0/8236 17/3846
1 c.232G>A r.(?) p.(Gly78Arg) g.138724220C>T Copied from the Exome Variant Server MZB1_000029 1/12104 0/8246 1/3858
1 c.234_235insG r.(?) p.(Arg79Alafs*41) g.138724217_138724218insC Copied from the Exome Variant Server MZB1_000028 3/11550 2/7870 1/3680
1 c.236G>A r.(?) p.(Arg79Gln) g.138724216C>T Copied from the Exome Variant Server MZB1_000027 1/12120 0/8250 1/3870
1 c.238C>T r.(?) p.(Arg80Trp) g.138724214G>A Copied from the Exome Variant Server MZB1_000026 1/12124 0/8254 1/3870
1 c.239G>A r.(?) p.(Arg80Gln) g.138724213C>T Copied from the Exome Variant Server MZB1_000025 1/12156 0/8260 1/3896
1 c.250G>A r.(?) p.(Glu84Lys) g.138724202C>T Copied from the Exome Variant Server MZB1_000024 1/12190 1/8260 0/3930
1 c.263C>T r.(?) p.(Thr88Met) g.138724189G>A Copied from the Exome Variant Server MZB1_000023 1/12212 1/8260 0/3952
1 c.264G>T r.(=) p.(=) g.138724188C>A Copied from the Exome Variant Server MZB1_000022 1/12236 0/8272 1/3964
1 c.278G>A r.(?) p.(Arg93Gln) g.138724174C>T Copied from the Exome Variant Server MZB1_000021 10/12268 10/8290 0/3978
1 c.290G>A r.(?) p.(Arg97Gln) g.138724162C>T Copied from the Exome Variant Server MZB1_000020 1/12268 0/8290 1/3978
1 c.302+23del r.(=) p.(=) g.138724127del Copied from the Exome Variant Server MZB1_000019 11584/11704 7920/7924 3664/3780
1 c.302+31T>G r.(=) p.(=) g.138724119A>C Copied from the Exome Variant Server MZB1_000018 4/12288 4/8296 0/3992
1 c.302+49G>A r.(=) p.(=) g.138724101C>T Copied from the Exome Variant Server MZB1_000017 3/12322 0/8304 3/4018
1 c.314G>A r.(?) p.(Arg105Gln) g.138723809C>T Copied from the Exome Variant Server MZB1_000016 1/11932 1/7998 0/3934
1 c.334C>T r.(?) p.(Arg112Cys) g.138723789G>A Copied from the Exome Variant Server MZB1_000015 1/12052 1/8094 0/3958
1 c.335G>A r.(?) p.(Arg112His) g.138723788C>T Copied from the Exome Variant Server MZB1_000014 1/12056 0/8100 1/3956
1 c.357C>T r.(=) p.(=) g.138723766G>A Copied from the Exome Variant Server MZB1_000013 1/12126 1/8178 0/3948
1 c.369G>A r.(=) p.(=) g.138723754C>T Copied from the Exome Variant Server MZB1_000012 2/12156 0/8210 2/3946
1 c.382G>A r.(?) p.(Val128Met) g.138723741C>T Copied from the Exome Variant Server MZB1_000011 6/12148 0/8222 6/3926
1 c.392C>T r.(?) p.(Thr131Ile) g.138723731G>A Copied from the Exome Variant Server MZB1_000010 3/12090 0/8202 3/3888
1 c.413+17G>A r.(=) p.(=) g.138723693C>T Copied from the Exome Variant Server MZB1_000009 3/11930 3/8176 0/3754
1 c.439T>C r.(=) p.(=) g.138723585A>G Copied from the Exome Variant Server MZB1_000008 2/11976 0/8220 2/3756
1 c.472G>A r.(?) p.(Ala158Thr) g.138723552C>T Copied from the Exome Variant Server MZB1_000007 1/11990 1/8230 0/3760
1 c.488G>A r.(?) p.(Arg163Gln) g.138723536C>T Copied from the Exome Variant Server MZB1_000006 2/11958 1/8208 1/3750
1 c.510A>C r.(=) p.(=) g.138723514T>G Copied from the Exome Variant Server MZB1_000005 33/12022 0/8228 33/3794
1 c.518G>T r.(?) p.(Gly173Val) g.138723506C>A Copied from the Exome Variant Server MZB1_000004 1/12026 1/8232 0/3794
1 c.567C>G r.(=) p.(=) g.138723457G>C Copied from the Exome Variant Server MZB1_000003 37/12212 32/8312 5/3900
1 c.*42C>G r.(=) p.(=) g.138723412G>C Copied from the Exome Variant Server MZB1_000002 1/12300 1/8332 0/3968
1 c.*46C>T r.(=) p.(=) g.138723408G>A Copied from the Exome Variant Server MZB1_000001 534/12298 284/8330 250/3968
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