Unique variants in gene MZT1

Information The variants shown are described using the NM_001071775.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-28C>G r.(=) p.(=) g.73301768G>C Copied from the Exome Variant Server MZT1_000027 1/12528 1/8268 0/4260
1 c.-14C>T r.(=) p.(=) g.73301754G>A Copied from the Exome Variant Server MZT1_000026 123/12698 82/8394 41/4304
1 c.-11C>T r.(=) p.(=) g.73301751G>A Copied from the Exome Variant Server MZT1_000025 1/12704 0/8402 1/4302
1 c.1A>T r.? p.? g.73301740T>A Copied from the Exome Variant Server MZT1_000024 2/12756 0/8430 2/4326
1 c.13A>G r.(?) p.(Ser5Gly) g.73301728T>C Copied from the Exome Variant Server MZT1_000023 10988/12662 8250/8346 2738/4316
1 c.18_21del r.(?) p.(Ala7Glyfs*11) g.73301720_73301723del Copied from the Exome Variant Server MZT1_000022 291/10810 221/6990 70/3820
1 c.13_23del r.(?) p.(Ser5Glyfs*22) g.73301718_73301728del Copied from the Exome Variant Server MZT1_000021 130/11004 95/7124 35/3880
1 c.36G>A r.(=) p.(=) g.73301705C>T Copied from the Exome Variant Server MZT1_000020 41/12762 0/8426 41/4336
1 c.79+4A>G r.spl? p.? g.73301658T>C Copied from the Exome Variant Server MZT1_000019 2/13004 2/8600 0/4404
1 c.79+7T>G r.(=) p.(=) g.73301655A>C Copied from the Exome Variant Server MZT1_000018 11371/13004 8517/8600 2854/4404
1 c.79+9C>G r.(=) p.(=) g.73301653G>C Copied from the Exome Variant Server MZT1_000017 1/13004 0/8600 1/4404
1 c.79+41C>A r.(=) p.(=) g.73301621G>T Copied from the Exome Variant Server MZT1_000016 121/13006 2/8600 119/4406
1 c.80-29del r.(=) p.(=) g.73293264del Copied from the Exome Variant Server MZT1_000015 6/12498 3/8242 3/4256
1 c.80-25T>A r.(=) p.(=) g.73293260A>T Copied from the Exome Variant Server MZT1_000014 2/12988 0/8590 2/4398
1 c.110C>T r.(?) p.(Thr37Ile) g.73293205G>A Copied from the Exome Variant Server MZT1_000013 2/13006 2/8600 0/4406
1 c.122T>G r.(?) p.(Met41Arg) g.73293193A>C Copied from the Exome Variant Server MZT1_000012 1/13006 0/8600 1/4406
1 c.132G>A r.(=) p.(=) g.73293183C>T Copied from the Exome Variant Server MZT1_000011 6/13006 0/8600 6/4406
1 c.142G>A r.(?) p.(Val48Ile) g.73293173C>T Copied from the Exome Variant Server MZT1_000010 1/13006 0/8600 1/4406
1 c.145C>T r.(?) p.(Arg49Trp) g.73293170G>A Copied from the Exome Variant Server MZT1_000009 1/13006 0/8600 1/4406
1 c.156A>G r.(=) p.(=) g.73293159T>C Copied from the Exome Variant Server MZT1_000008 72/13006 0/8600 72/4406
1 c.183A>T r.(=) p.(=) g.73293132T>A Copied from the Exome Variant Server MZT1_000007 662/13006 211/8600 451/4406
1 c.210T>G r.(=) p.(=) g.73293105A>C Copied from the Exome Variant Server MZT1_000006 1/13006 1/8600 0/4406
1 c.221T>C r.(?) p.(Leu74Pro) g.73293094A>G Copied from the Exome Variant Server MZT1_000005 1/13006 0/8600 1/4406
1 c.225+6A>C r.(=) p.(=) g.73293084T>G Copied from the Exome Variant Server MZT1_000004 2/13006 0/8600 2/4406
1 c.226-48C>G r.(=) p.(=) g.73284531G>C Copied from the Exome Variant Server MZT1_000003 15/13006 0/8600 15/4406
1 c.*46G>A r.(=) p.(=) g.73284414C>T Copied from the Exome Variant Server MZT1_000002 31/13006 30/8600 1/4406
1 c.*49T>A r.(=) p.(=) g.73284411A>T Copied from the Exome Variant Server MZT1_000001 2132/13006 1957/8600 175/4406
Legend