Unique variants in gene SERPINA7

Information The variants shown are described using the NM_000354.5 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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.-6T>C r.(=) p.(=) g.105281055A>G Copied from the Exome Variant Server SERPINA7_000041 1/10561 1/6726 0/3835
1 c.22G>T r.(?) p.(Val8Phe) g.105281028C>A Copied from the Exome Variant Server SERPINA7_000040 53/10561 2/6726 51/3835
1 c.30G>T r.(?) p.(Leu10Phe) g.105281020C>A Copied from the Exome Variant Server SERPINA7_000039 1/10563 1/6728 0/3835
1 c.55C>T r.(?) p.(His19Tyr) g.105280995G>A Copied from the Exome Variant Server SERPINA7_000038 1/10563 0/6728 1/3835
1 c.198C>T r.(=) p.(=) g.105280852G>A Copied from the Exome Variant Server SERPINA7_000037 12/10563 0/6728 12/3835
1 c.280G>A r.(?) p.(Glu94Lys) g.105280770C>T Copied from the Exome Variant Server SERPINA7_000036 1/10563 1/6728 0/3835
1 c.392G>A r.(?) p.(Gly131Glu) g.105280658C>T Copied from the Exome Variant Server SERPINA7_000035 1/10563 1/6728 0/3835
1 c.495C>A r.(?) p.(Asn165Lys) g.105280555G>T Copied from the Exome Variant Server SERPINA7_000034 1/10563 0/6728 1/3835
1 c.509A>G r.(?) p.(Lys170Arg) g.105280541T>C Copied from the Exome Variant Server SERPINA7_000033 1/10563 1/6728 0/3835
1 c.562C>T r.(=) p.(=) g.105280488G>A Copied from the Exome Variant Server SERPINA7_000032 1/10563 1/6728 0/3835
1 c.571G>A r.(?) p.(Asp191Asn) g.105280479C>T Copied from the Exome Variant Server SERPINA7_000031 405/10563 4/6728 401/3835
1 c.593T>C r.(?) p.(Met198Thr) g.105280457A>G Copied from the Exome Variant Server SERPINA7_000030 1/10563 1/6728 0/3835
1 c.622+17T>A r.(=) p.(=) g.105280411A>T Copied from the Exome Variant Server SERPINA7_000029 1/10563 0/6728 1/3835
1 c.623-40C>T r.(=) p.(=) g.105279416G>A Copied from the Exome Variant Server SERPINA7_000028 401/10558 4/6723 397/3835
1 c.631G>A r.(?) p.(Ala211Thr) g.105279368C>T Copied from the Exome Variant Server SERPINA7_000027 7/10563 1/6728 6/3835
1 c.653A>G r.(?) p.(Lys218Arg) g.105279346T>C Copied from the Exome Variant Server SERPINA7_000026 1/10563 1/6728 0/3835
1 c.658G>A r.(?) p.(Glu220Lys) g.105279341C>T Copied from the Exome Variant Server SERPINA7_000025 1/10563 1/6728 0/3835
1 c.727C>A r.(?) p.(Gln243Lys) g.105279272G>T Copied from the Exome Variant Server SERPINA7_000024 1/10563 0/6728 1/3835
1 c.834G>A r.(=) p.(=) g.105279165C>T Copied from the Exome Variant Server SERPINA7_000023 1/10563 1/6728 0/3835
1 c.852G>A r.(?) p.(Met284Ile) g.105279147C>T Copied from the Exome Variant Server SERPINA7_000021 2/10563 0/6728 2/3835
1 c.881G>A r.(?) p.(Arg294His) g.105279118C>T Copied from the Exome Variant Server SERPINA7_000019 1/10563 1/6728 0/3835
1 c.896+46G>T r.(=) p.(=) g.105279057C>A Copied from the Exome Variant Server SERPINA7_000017 1/10557 1/6724 0/3833
1 c.896+47C>T r.(=) p.(=) g.105279056G>A Copied from the Exome Variant Server SERPINA7_000015 753/10557 4/6724 749/3833
1 c.897-36G>T r.(=) p.(=) g.105278409C>A Copied from the Exome Variant Server SERPINA7_000022 8/10562 3/6727 5/3835
1 c.897-30G>A r.(=) p.(=) g.105278403C>T Copied from the Exome Variant Server SERPINA7_000020 1/10563 1/6728 0/3835
1 c.909G>T r.(?) p.(Leu303Phe) g.105278361C>A Copied from the Exome Variant Server SERPINA7_000018 1223/10563 751/6728 472/3835
1 c.986A>T r.(?) p.(Tyr329Phe) g.105278284T>A Copied from the Exome Variant Server SERPINA7_000016 21/10563 20/6728 1/3835
1 c.1007C>G r.(?) p.(Ser336Cys) g.105278263G>C Copied from the Exome Variant Server SERPINA7_000014 1/10563 1/6728 0/3835
1 c.1016C>T r.(?) p.(Thr339Ile) g.105278254G>A Copied from the Exome Variant Server SERPINA7_000013 1/10563 0/6728 1/3835
1 c.1020G>T r.(?) p.(Glu340Asp) g.105278250C>A Copied from the Exome Variant Server SERPINA7_000012 1/10563 1/6728 0/3835
1 c.1044T>C r.(=) p.(=) g.105278226A>G Copied from the Exome Variant Server SERPINA7_000011 1/10563 1/6728 0/3835
1 c.1044+28T>C r.(=) p.(=) g.105278198A>G Copied from the Exome Variant Server SERPINA7_000010 1/10563 1/6728 0/3835
1 c.1044+29G>T r.(=) p.(=) g.105278197C>A Copied from the Exome Variant Server SERPINA7_000009 1/10563 1/6728 0/3835
1 c.1045-7C>T r.(=) p.(=) g.105277701G>A Copied from the Exome Variant Server SERPINA7_000008 2/10563 0/6728 2/3835
1 c.1045-5C>T r.spl? p.? g.105277699G>A Copied from the Exome Variant Server SERPINA7_000007 1/10563 1/6728 0/3835
1 c.1055A>T r.(?) p.(Lys352Met) g.105277684T>A Copied from the Exome Variant Server SERPINA7_000006 45/10563 0/6728 45/3835
1 c.1060G>C r.(?) p.(Val354Leu) g.105277679C>G Copied from the Exome Variant Server SERPINA7_000005 1/10563 1/6728 0/3835
1 c.1139T>C r.(?) p.(Phe380Ser) g.105277600A>G Copied from the Exome Variant Server SERPINA7_000004 1/10563 1/6728 0/3835
1 c.1150A>G r.(?) p.(Ile384Val) g.105277589T>C Copied from the Exome Variant Server SERPINA7_000003 6/10563 1/6728 5/3835
1 c.1163A>G r.(?) p.(Asp388Gly) g.105277576T>C Copied from the Exome Variant Server SERPINA7_000002 2/10563 2/6728 0/3835
1 c.1242A>C r.(?) p.(Glu414Asp) g.105277497T>G Copied from the Exome Variant Server SERPINA7_000001 61/10562 1/6727 60/3835
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