All transcript variants in gene ZMAT1

Information The variants shown are described using the NM_001011657.3 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.1-4del r.spl? p.? g.101173610del Copied from the Exome Variant Server ZMAT1_000061 9/722 3/454 6/268
?/? c.1-4dup r.spl? p.? g.101173610dup Copied from the Exome Variant Server ZMAT1_000060 29/722 6/454 23/268
?/? c.122-51C>T r.(=) p.(=) g.101159354G>A Copied from the Exome Variant Server ZMAT1_000059 1/10528 1/6710 0/3818
?/? c.123C>T r.(=) p.(=) g.101159302G>A Copied from the Exome Variant Server ZMAT1_000058 2/10558 2/6725 0/3833
?/? c.152A>G r.(?) p.(Glu51Gly) g.101159273T>C Copied from the Exome Variant Server ZMAT1_000057 1/10557 0/6726 1/3831
?/? c.153A>G r.(=) p.(=) g.101159272T>C Copied from the Exome Variant Server ZMAT1_000056 2/10557 2/6726 0/3831
?/? c.154C>T r.(?) p.(Leu52Phe) g.101159271G>A Copied from the Exome Variant Server ZMAT1_000055 1/10559 0/6728 1/3831
?/? c.191T>C r.(?) p.(Met64Thr) g.101159234A>G Copied from the Exome Variant Server ZMAT1_000054 1/10559 0/6726 1/3833
?/? c.228+24G>A r.(=) p.(=) g.101159173C>T Copied from the Exome Variant Server ZMAT1_000053 2/10554 0/6721 2/3833
?/? c.228+47G>A r.(=) p.(=) g.101159150C>T Copied from the Exome Variant Server ZMAT1_000052 1/10550 1/6718 0/3832
?/? c.229-14A>G r.(=) p.(=) g.101153207T>C Copied from the Exome Variant Server ZMAT1_000051 1/10549 1/6718 0/3831
?/? c.229-13T>C r.(=) p.(=) g.101153206A>G Copied from the Exome Variant Server ZMAT1_000050 1/10549 0/6718 1/3831
?/? c.250G>T r.(?) p.(Val84Phe) g.101153172C>A Copied from the Exome Variant Server ZMAT1_000049 1/10558 1/6725 0/3833
?/? c.285T>G r.(?) p.(Asn95Lys) g.101153137A>C Copied from the Exome Variant Server ZMAT1_000048 1/10561 0/6726 1/3835
?/? c.310A>G r.(?) p.(Met104Val) g.101153112T>C Copied from the Exome Variant Server ZMAT1_000047 1/10561 1/6726 0/3835
?/? c.352G>A r.(?) p.(Asp118Asn) g.101152994C>T Copied from the Exome Variant Server ZMAT1_000046 5/10563 0/6728 5/3835
?/? c.366T>C r.(=) p.(=) g.101152980A>G Copied from the Exome Variant Server ZMAT1_000045 2/10563 2/6728 0/3835
?/? c.373C>G r.(?) p.(Leu125Val) g.101152973G>C Copied from the Exome Variant Server ZMAT1_000044 2/10563 2/6728 0/3835
?/? c.505+14C>T r.(=) p.(=) g.101152827G>A Copied from the Exome Variant Server ZMAT1_000043 1/10563 0/6728 1/3835
?/? c.505+16C>G r.(=) p.(=) g.101152825G>C Copied from the Exome Variant Server ZMAT1_000042 1/10563 1/6728 0/3835
?/? c.505+38T>G r.(=) p.(=) g.101152803A>C Copied from the Exome Variant Server ZMAT1_000041 1/10561 1/6726 0/3835
?/? c.505+48A>G r.(=) p.(=) g.101152793T>C Copied from the Exome Variant Server ZMAT1_000040 1/10559 0/6724 1/3835
?/? c.506-48A>G r.(=) p.(=) g.101141751T>C Copied from the Exome Variant Server ZMAT1_000039 5/10546 0/6722 5/3824
?/? c.600A>G r.(=) p.(=) g.101141609T>C Copied from the Exome Variant Server ZMAT1_000038 17/10562 15/6728 2/3834
?/? c.605+17A>G r.(=) p.(=) g.101141587T>C Copied from the Exome Variant Server ZMAT1_000037 1/10562 1/6728 0/3834
?/? c.605+19A>G r.(=) p.(=) g.101141585T>C Copied from the Exome Variant Server ZMAT1_000036 1/10562 0/6728 1/3834
?/? c.606-45A>T r.(=) p.(=) g.101139838T>A Copied from the Exome Variant Server ZMAT1_000035 15/9679 15/6248 0/3431
?/? c.606-23A>G r.(=) p.(=) g.101139816T>C Copied from the Exome Variant Server ZMAT1_000034 13/10506 0/6696 13/3810
?/? c.639A>G r.(=) p.(=) g.101139760T>C Copied from the Exome Variant Server ZMAT1_000033 1/10563 1/6728 0/3835
?/? c.641G>A r.(?) p.(Arg214Lys) g.101139758C>T Copied from the Exome Variant Server ZMAT1_000032 946/10563 494/6728 452/3835
?/? c.644A>G r.(?) p.(Lys215Arg) g.101139755T>C Copied from the Exome Variant Server ZMAT1_000031 2/10563 1/6728 1/3835
?/? c.749T>C r.(?) p.(Leu250Ser) g.101139650A>G Copied from the Exome Variant Server ZMAT1_000030 39/10563 0/6728 39/3835
?/? c.777C>T r.(=) p.(=) g.101139622G>A Copied from the Exome Variant Server ZMAT1_000029 2/10563 2/6728 0/3835
?/? c.778G>A r.(?) p.(Asp260Asn) g.101139621C>T Copied from the Exome Variant Server ZMAT1_000028 1/10563 1/6728 0/3835
?/? c.799A>G r.(?) p.(Met267Val) g.101139600T>C Copied from the Exome Variant Server ZMAT1_000027 1/10563 0/6728 1/3835
?/? c.833G>A r.(?) p.(Arg278Gln) g.101139566C>T Copied from the Exome Variant Server ZMAT1_000025 1/10563 0/6728 1/3835
?/? c.872A>G r.(?) p.(Glu291Gly) g.101139527T>C Copied from the Exome Variant Server ZMAT1_000023 1/10563 1/6728 0/3835
?/? c.936C>T r.(=) p.(=) g.101139463G>A Copied from the Exome Variant Server ZMAT1_000021 1/10563 1/6728 0/3835
?/? c.961G>T r.(?) p.(Asp321Tyr) g.101139438C>A Copied from the Exome Variant Server ZMAT1_000019 28/10563 0/6728 28/3835
?/? c.971C>T r.(?) p.(Thr324Ile) g.101139428G>A Copied from the Exome Variant Server ZMAT1_000017 1/10563 1/6728 0/3835
?/? c.1020A>G r.(=) p.(=) g.101139379T>C Copied from the Exome Variant Server ZMAT1_000015 1/10563 1/6728 0/3835
?/? c.1041C>G r.(=) p.(=) g.101139358G>C Copied from the Exome Variant Server ZMAT1_000026 1/10563 0/6728 1/3835
?/? c.1074T>C r.(=) p.(=) g.101139325A>G Copied from the Exome Variant Server ZMAT1_000024 1/10563 0/6728 1/3835
?/? c.1124G>A r.(?) p.(Ser375Asn) g.101139275C>T Copied from the Exome Variant Server ZMAT1_000022 1/10563 0/6728 1/3835
?/? c.1164A>G r.(=) p.(=) g.101139235T>C Copied from the Exome Variant Server ZMAT1_000020 1/10563 0/6728 1/3835
?/? c.1166A>C r.(?) p.(Tyr389Ser) g.101139233T>G Copied from the Exome Variant Server ZMAT1_000018 1/10563 1/6728 0/3835
?/? c.1231A>G r.(?) p.(Lys411Glu) g.101139168T>C Copied from the Exome Variant Server ZMAT1_000016 1/10563 0/6728 1/3835
?/? c.1291G>A r.(?) p.(Val431Ile) g.101139108C>T Copied from the Exome Variant Server ZMAT1_000014 1/10563 1/6728 0/3835
?/? c.1318T>C r.(=) p.(=) g.101139081A>G Copied from the Exome Variant Server ZMAT1_000013 1/10563 1/6728 0/3835
?/? c.1323G>A r.(=) p.(=) g.101139076C>T Copied from the Exome Variant Server ZMAT1_000012 3/10563 1/6728 2/3835
?/? c.1422T>C r.(=) p.(=) g.101138977A>G Copied from the Exome Variant Server ZMAT1_000011 2/10561 2/6728 0/3833
?/? c.1524T>C r.(=) p.(=) g.101138875A>G Copied from the Exome Variant Server ZMAT1_000010 6/10561 1/6728 5/3833
?/? c.1539A>G r.(=) p.(=) g.101138860T>C Copied from the Exome Variant Server ZMAT1_000009 2/10561 1/6728 1/3833
?/? c.1606C>T r.(?) p.(Arg536Trp) g.101138793G>A Copied from the Exome Variant Server ZMAT1_000008 1/10563 1/6728 0/3835
?/? c.1764C>A r.(=) p.(=) g.101138635G>T Copied from the Exome Variant Server ZMAT1_000007 1/10563 0/6728 1/3835
?/? c.1787G>A r.(?) p.(Arg596Gln) g.101138612C>T Copied from the Exome Variant Server ZMAT1_000006 1/10561 1/6726 0/3835
?/? c.1805A>G r.(?) p.(His602Arg) g.101138594T>C Copied from the Exome Variant Server ZMAT1_000005 1/10563 1/6728 0/3835
?/? c.1813C>T r.(?) p.(Pro605Ser) g.101138586G>A Copied from the Exome Variant Server ZMAT1_000004 15/10563 0/6728 15/3835
?/? c.1832G>A r.(?) p.(Arg611His) g.101138567C>T Copied from the Exome Variant Server ZMAT1_000003 2/10563 0/6728 2/3835
?/? c.*43del r.(=) p.(=) g.101138439del Copied from the Exome Variant Server ZMAT1_000002 1264/10192 846/6473 418/3719
?/? c.*43dup r.(=) p.(=) g.101138439dup Copied from the Exome Variant Server ZMAT1_000001 954/10192 639/6473 315/3719
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