Full data view for gene ZMAT5

Information The variants shown are described using the NM_019103.2 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.30C>T r.(=) p.(=) g.30144504G>A Copied from the Exome Variant Server ZMAT5_000042 2/13006 0/8600 2/4406 - - - - - - -
?/? c.31G>A r.(?) p.(Asp11Asn) g.30144503C>T Copied from the Exome Variant Server ZMAT5_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.55del r.(?) p.(His19Thrfs*7) g.30144479del Copied from the Exome Variant Server ZMAT5_000040 1/12518 1/8254 0/4264 - - - - - - -
?/? c.96G>A r.(=) p.(=) g.30144438C>T Copied from the Exome Variant Server ZMAT5_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.127+9C>T r.(=) p.(=) g.30144398G>A Copied from the Exome Variant Server ZMAT5_000038 3/13006 3/8600 0/4406 - - - - - - -
?/? c.127+10G>A r.(=) p.(=) g.30144397C>T Copied from the Exome Variant Server ZMAT5_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.127+21G>T r.(=) p.(=) g.30144386C>A Copied from the Exome Variant Server ZMAT5_000036 2/13006 2/8600 0/4406 - - - - - - -
?/? c.128-64C>T r.(=) p.(=) g.30138533G>A Copied from the Exome Variant Server ZMAT5_000035 27/4566 27/3182 0/1384 - - - - - - -
?/? c.128-28C>T r.(=) p.(=) g.30138497G>A Copied from the Exome Variant Server ZMAT5_000034 533/13006 408/8600 125/4406 - - - - - - -
?/? c.128-20G>T r.(=) p.(=) g.30138489C>A Copied from the Exome Variant Server ZMAT5_000033 4/13006 4/8600 0/4406 - - - - - - -
?/? c.129T>C r.(=) p.(=) g.30138468A>G Copied from the Exome Variant Server ZMAT5_000032 2/13006 2/8600 0/4406 - - - - - - -
?/? c.174G>T r.(?) p.(Arg58Ser) g.30138423C>A Copied from the Exome Variant Server ZMAT5_000031 3/13006 3/8600 0/4406 - - - - - - -
?/? c.190+3A>G r.spl? p.? g.30138404T>C Copied from the Exome Variant Server ZMAT5_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.190+35G>T r.(=) p.(=) g.30138372C>A Copied from the Exome Variant Server ZMAT5_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.190+42G>A r.(=) p.(=) g.30138365C>T Copied from the Exome Variant Server ZMAT5_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.191-29C>G r.(=) p.(=) g.30136748G>C Copied from the Exome Variant Server ZMAT5_000027 44/12988 1/8594 43/4394 - - - - - - -
?/? c.191-3C>G r.spl? p.? g.30136722G>C Copied from the Exome Variant Server ZMAT5_000026 1/13002 0/8596 1/4406 - - - - - - -
?/? c.209C>G r.(?) p.(Ser70Cys) g.30136701G>C Copied from the Exome Variant Server ZMAT5_000025 42/13006 1/8600 41/4406 - - - - - - -
?/? c.238C>T r.(?) p.(Arg80*) g.30136672G>A Copied from the Exome Variant Server ZMAT5_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.247C>T r.(?) p.(Gln83*) g.30136663G>A Copied from the Exome Variant Server ZMAT5_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.271+9C>T r.(=) p.(=) g.30136630G>A Copied from the Exome Variant Server ZMAT5_000022 2/13006 2/8600 0/4406 - - - - - - -
?/? c.271+33G>A r.(=) p.(=) g.30136606C>T Copied from the Exome Variant Server ZMAT5_000021 99/12996 93/8592 6/4404 - - - - - - -
?/? c.271+37G>A r.(=) p.(=) g.30136602C>T Copied from the Exome Variant Server ZMAT5_000020 1/12984 0/8584 1/4400 - - - - - - -
?/? c.271+50G>A r.(=) p.(=) g.30136589C>T Copied from the Exome Variant Server ZMAT5_000019 1/12968 0/8572 1/4396 - - - - - - -
?/? c.319G>A r.(?) p.(Glu107Lys) g.30134383C>T Copied from the Exome Variant Server ZMAT5_000018 2/13006 2/8600 0/4406 - - - - - - -
?/? c.321G>A r.(=) p.(=) g.30134381C>T Copied from the Exome Variant Server ZMAT5_000017 42/13006 1/8600 41/4406 - - - - - - -
?/? c.359G>A r.(?) p.(Arg120Gln) g.30134343C>T Copied from the Exome Variant Server ZMAT5_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.383+12C>T r.(=) p.(=) g.30134307G>A Copied from the Exome Variant Server ZMAT5_000015 16/13006 15/8600 1/4406 - - - - - - -
?/? c.383+20C>T r.(=) p.(=) g.30134299G>A Copied from the Exome Variant Server ZMAT5_000014 27/13006 27/8600 0/4406 - - - - - - -
?/? c.383+24C>T r.(=) p.(=) g.30134295G>A Copied from the Exome Variant Server ZMAT5_000013 11/13006 10/8600 1/4406 - - - - - - -
?/? c.383+26G>A r.(=) p.(=) g.30134293C>T Copied from the Exome Variant Server ZMAT5_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.383+34C>A r.(=) p.(=) g.30134285G>T Copied from the Exome Variant Server ZMAT5_000011 49/13002 43/8596 6/4406 - - - - - - -
?/? c.384-26C>T r.(=) p.(=) g.30127369G>A Copied from the Exome Variant Server ZMAT5_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.384-24C>A r.(=) p.(=) g.30127367G>T Copied from the Exome Variant Server ZMAT5_000009 819/13006 663/8600 156/4406 - - - - - - -
?/? c.384-22C>T r.(=) p.(=) g.30127365G>A Copied from the Exome Variant Server ZMAT5_000008 338/13006 4/8600 334/4406 - - - - - - -
?/? c.384-20G>A r.(=) p.(=) g.30127363C>T Copied from the Exome Variant Server ZMAT5_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.426C>A r.(=) p.(=) g.30127301G>T Copied from the Exome Variant Server ZMAT5_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.477G>A r.(=) p.(=) g.30127250C>T Copied from the Exome Variant Server ZMAT5_000005 1/13000 1/8596 0/4404 - - - - - - -
?/? c.480_481insG r.(?) p.(Trp161Valfs*95) g.30127246_30127247insC Copied from the Exome Variant Server ZMAT5_000004 48/12484 23/8230 25/4254 - - - - - - -
?/? c.501C>T r.(=) p.(=) g.30127226G>A Copied from the Exome Variant Server ZMAT5_000003 1/13004 1/8598 0/4406 - - - - - - -
?/? c.*13C>T r.(=) p.(=) g.30127201G>A Copied from the Exome Variant Server ZMAT5_000002 2/12996 1/8592 1/4404 - - - - - - -
?/? c.*37_*38del r.(=) p.(=) g.30127176_30127177del Copied from the Exome Variant Server ZMAT5_000001 9/12418 8/8196 1/4222 - - - - - - -
Legend