Unique variants in gene SRPX2

Information The variants shown are described using the NM_014467.2 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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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.82+22C>T r.(=) p.(=) g.99901423C>T Copied from the Exome Variant Server SRPX2_000001 1/10563 1/6728 0/3835
1 c.83-58del r.(=) p.(=) g.99905724del Copied from the Exome Variant Server SRPX2_000002 1/10205 1/6484 0/3721
1 c.133G>A r.(?) p.(Val45Ile) g.99905832G>A Copied from the Exome Variant Server SRPX2_000003 1/10563 0/6728 1/3835
1 c.151C>G r.(?) p.(Leu51Val) g.99905850C>G Copied from the Exome Variant Server SRPX2_000004 1/10563 0/6728 1/3835
1 c.163+9del r.(=) p.(=) g.99905871del Copied from the Exome Variant Server SRPX2_000005 1/10205 1/6484 0/3721
1 c.163+12T>C r.(=) p.(=) g.99905874T>C Copied from the Exome Variant Server SRPX2_000006 296/10563 2/6728 294/3835
1 c.163+36T>G r.(=) p.(=) g.99905898T>G Copied from the Exome Variant Server SRPX2_000007 4/10563 4/6728 0/3835
1 c.163+37T>C r.(=) p.(=) g.99905899T>C Copied from the Exome Variant Server SRPX2_000008 1/10563 0/6728 1/3835
1 c.164-39T>C r.(=) p.(=) g.99917134T>C Copied from the Exome Variant Server SRPX2_000009 2/10563 2/6728 0/3835
1 c.164-25G>T r.(=) p.(=) g.99917148G>T Copied from the Exome Variant Server SRPX2_000010 215/10563 1/6728 214/3835
1 c.215A>C r.(?) p.(Tyr72Ser) g.99917224A>C Copied from the Exome Variant Server SRPX2_000011 1/10563 1/6728 0/3835
1 c.226G>A r.(?) p.(Gly76Arg) g.99917235G>A Copied from the Exome Variant Server SRPX2_000012 1/10563 0/6728 1/3835
1 c.248T>C r.(?) p.(Leu83Pro) g.99917257T>C Copied from the Exome Variant Server SRPX2_000013 2/10563 1/6728 1/3835
1 c.289T>C r.(=) p.(=) g.99917298T>C Copied from the Exome Variant Server SRPX2_000014 1/10563 0/6728 1/3835
1 c.355+6_355+7insTG r.(=) p.(=) g.99917370_99917371insTG Copied from the Exome Variant Server SRPX2_000015 1/10203 1/6484 0/3719
1 c.355+38G>C r.(=) p.(=) g.99917402G>C Copied from the Exome Variant Server SRPX2_000016 4/10563 0/6728 4/3835
1 c.356-38G>A r.(=) p.(=) g.99919733G>A Copied from the Exome Variant Server SRPX2_000017 8396/10556 6574/6723 1822/3833
1 c.362G>A r.(?) p.(Arg121Lys) g.99919777G>A Copied from the Exome Variant Server SRPX2_000018 3/10562 2/6727 1/3835
1 c.369C>T r.(=) p.(=) g.99919784C>T Copied from the Exome Variant Server SRPX2_000019 1/10562 1/6727 0/3835
1 c.449C>T r.(?) p.(Ser150Phe) g.99919864C>T Copied from the Exome Variant Server SRPX2_000020 1/10563 1/6728 0/3835
1 c.460C>G r.(?) p.(His154Asp) g.99919875C>G Copied from the Exome Variant Server SRPX2_000021 44/10563 0/6728 44/3835
1 c.481C>A r.(=) p.(=) g.99919896C>A Copied from the Exome Variant Server SRPX2_000022 10/10563 9/6728 1/3835
1 c.503G>A r.(?) p.(Arg168Lys) g.99919918G>A Copied from the Exome Variant Server SRPX2_000023 1/10563 1/6728 0/3835
1 c.533-38G>T r.(=) p.(=) g.99920202G>T Copied from the Exome Variant Server SRPX2_000024 3/10562 3/6727 0/3835
1 c.533-30G>A r.(=) p.(=) g.99920210G>A Copied from the Exome Variant Server SRPX2_000025 44/10563 40/6728 4/3835
1 c.564C>T r.(=) p.(=) g.99920271C>T Copied from the Exome Variant Server SRPX2_000026 3/10563 0/6728 3/3835
1 c.569G>A r.(?) p.(Arg190His) g.99920276G>A Copied from the Exome Variant Server SRPX2_000027 1/10563 1/6728 0/3835
1 c.605G>A r.(?) p.(Arg202Gln) g.99920312G>A Copied from the Exome Variant Server SRPX2_000028 5/10563 5/6728 0/3835
1 c.624G>A r.(=) p.(=) g.99920331G>A Copied from the Exome Variant Server SRPX2_000029 3/10563 1/6728 2/3835
1 c.659+34C>A r.(=) p.(=) g.99920400C>A Copied from the Exome Variant Server SRPX2_000030 1/10563 0/6728 1/3835
1 c.659+39G>A r.(=) p.(=) g.99920405G>A Copied from the Exome Variant Server SRPX2_000031 1/10563 0/6728 1/3835
1 c.660-16del r.(=) p.(=) g.99920517del Copied from the Exome Variant Server SRPX2_000032 9/10205 0/6484 9/3721
1 c.670C>T r.(?) p.(Arg224Trp) g.99920543C>T Copied from the Exome Variant Server SRPX2_000033 1/10563 1/6728 0/3835
1 c.693C>A r.(?) p.(His231Gln) g.99920566C>A Copied from the Exome Variant Server SRPX2_000034 1/10563 1/6728 0/3835
1 c.723C>T r.(=) p.(=) g.99920596C>T Copied from the Exome Variant Server SRPX2_000035 1/10563 0/6728 1/3835
1 c.737G>A r.(?) p.(Arg246Gln) g.99920610G>A Copied from the Exome Variant Server SRPX2_000036 4/10563 1/6728 3/3835
1 c.781+15T>C r.(=) p.(=) g.99920669T>C Copied from the Exome Variant Server SRPX2_000037 1/10563 1/6728 0/3835
1 c.782-44T>C r.(=) p.(=) g.99921707T>C Copied from the Exome Variant Server SRPX2_000038 17/10563 0/6728 17/3835
1 c.782-27C>T r.(=) p.(=) g.99921724C>T Copied from the Exome Variant Server SRPX2_000039 41/10563 0/6728 41/3835
1 c.809C>T r.(?) p.(Pro270Leu) g.99921778C>T Copied from the Exome Variant Server SRPX2_000040 3/10563 0/6728 3/3835
1 c.810G>A r.(=) p.(=) g.99921779G>A Copied from the Exome Variant Server SRPX2_000041 2/10563 0/6728 2/3835
1 c.816C>T r.(=) p.(=) g.99921785C>T Copied from the Exome Variant Server SRPX2_000042 2/10563 2/6728 0/3835
1 c.840G>A r.(=) p.(=) g.99921809G>A Copied from the Exome Variant Server SRPX2_000043 8/10563 0/6728 8/3835
1 c.844G>A r.(?) p.(Asp282Asn) g.99921813G>A Copied from the Exome Variant Server SRPX2_000044 1/10563 0/6728 1/3835
1 c.888T>C r.(=) p.(=) g.99921857T>C Copied from the Exome Variant Server SRPX2_000045 1/10563 0/6728 1/3835
1 c.893G>A r.(?) p.(Arg298His) g.99921862G>A Copied from the Exome Variant Server SRPX2_000046 2/10563 1/6728 1/3835
1 c.918T>C r.(=) p.(=) g.99921887T>C Copied from the Exome Variant Server SRPX2_000047 16/10563 0/6728 16/3835
1 c.920A>G r.(?) p.(Gln307Arg) g.99921889A>G Copied from the Exome Variant Server SRPX2_000048 3/10563 0/6728 3/3835
1 c.961+12C>T r.(=) p.(=) g.99921942C>T Copied from the Exome Variant Server SRPX2_000049 1/10563 0/6728 1/3835
1 c.962-50del r.(=) p.(=) g.99922221del Copied from the Exome Variant Server SRPX2_000050 5/10205 4/6484 1/3721
1 c.964A>G r.(?) p.(Met322Val) g.99922273A>G Copied from the Exome Variant Server SRPX2_000051 1/10563 0/6728 1/3835
1 c.980A>G r.(?) p.(Asn327Ser) g.99922289A>G Copied from the Exome Variant Server SRPX2_000052 11/10563 11/6728 0/3835
1 c.981C>G r.(?) p.(Asn327Lys) g.99922290C>G Copied from the Exome Variant Server SRPX2_000053 1/10563 0/6728 1/3835
1 c.1011A>G r.(=) p.(=) g.99922320A>G Copied from the Exome Variant Server SRPX2_000054 3/10563 3/6728 0/3835
1 c.1012T>A r.(?) p.(Phe338Ile) g.99922321T>A Copied from the Exome Variant Server SRPX2_000055 1/10563 1/6728 0/3835
1 c.1030C>A r.(?) p.(Leu344Ile) g.99922339C>A Copied from the Exome Variant Server SRPX2_000056 19/10563 0/6728 19/3835
1 c.1095+15C>A r.(=) p.(=) g.99922419C>A Copied from the Exome Variant Server SRPX2_000057 1/10563 1/6728 0/3835
1 c.1096-9C>T r.(=) p.(=) g.99924236C>T Copied from the Exome Variant Server SRPX2_000058 1/10563 0/6728 1/3835
1 c.1120C>T r.(?) p.(Arg374Trp) g.99924269C>T Copied from the Exome Variant Server SRPX2_000059 1/10563 1/6728 0/3835
1 c.1140A>C r.(?) p.(Glu380Asp) g.99924289A>C Copied from the Exome Variant Server SRPX2_000060 1/10563 1/6728 0/3835
1 c.1144G>A r.(?) p.(Val382Met) g.99924293G>A Copied from the Exome Variant Server SRPX2_000062 1/10563 1/6728 0/3835
1 c.1178G>A r.(?) p.(Arg393Gln) g.99924327G>A Copied from the Exome Variant Server SRPX2_000064 3/10563 0/6728 3/3835
1 c.1199A>G r.(?) p.(Asn400Ser) g.99924348A>G Copied from the Exome Variant Server SRPX2_000066 2/10563 2/6728 0/3835
1 c.1217+26_1217+27insG r.(=) p.(=) g.99924392_99924393insG Copied from the Exome Variant Server SRPX2_000061 82/8911 42/5576 40/3335
1 c.1217+33_1217+34insG r.(=) p.(=) g.99924399_99924400insG Copied from the Exome Variant Server SRPX2_000063 168/6923 109/4279 59/2644
1 c.1217+36G>C r.(=) p.(=) g.99924402G>C Copied from the Exome Variant Server SRPX2_000065 301/9178 0/5782 301/3396
1 c.1217+41_1217+42del r.(=) p.(=) g.99924407_99924408del Copied from the Exome Variant Server SRPX2_000067 192/7350 144/4581 48/2769
1 c.1218-6C>T r.(=) p.(=) g.99925798C>T Copied from the Exome Variant Server SRPX2_000068 2/10563 0/6728 2/3835
1 c.1221A>G r.(=) p.(=) g.99925807A>G Copied from the Exome Variant Server SRPX2_000069 1/10563 0/6728 1/3835
1 c.1229G>A r.(?) p.(Arg410His) g.99925815G>A Copied from the Exome Variant Server SRPX2_000070 1/10563 0/6728 1/3835
1 c.1293C>T r.(=) p.(=) g.99925879C>T Copied from the Exome Variant Server SRPX2_000071 3/10563 0/6728 3/3835
1 c.1301C>T r.(?) p.(Pro434Leu) g.99925887C>T Copied from the Exome Variant Server SRPX2_000072 1/10563 1/6728 0/3835
1 c.1373G>A r.(?) p.(Arg458Gln) g.99925959G>A Copied from the Exome Variant Server SRPX2_000073 19/10563 0/6728 19/3835
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