All transcript variants in gene SRPX

Information The variants shown are described using the NM_006307.4 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.41_43del r.(?) p.(Leu14del) g.38080003_38080005del Copied from the Exome Variant Server SRPX_000083 208/6104 148/4067 60/2037
?/? c.58_59insCTCTGCTGC r.(?) p.(Leu19_Leu20insProLeuLeu) g.38079987_38079988insGCAGCAGAG Copied from the Exome Variant Server SRPX_000082 977/6979 723/4595 254/2384
?/? c.65_67del r.(?) p.(Leu23del) g.38079979_38079981del Copied from the Exome Variant Server SRPX_000081 1745/6327 1290/4220 455/2107
?/? c.65_70del r.(?) p.(Leu22_Leu23del) g.38079976_38079981del Copied from the Exome Variant Server SRPX_000080 46/6327 26/4220 20/2107
?/? c.77C>A r.(?) p.(Pro26Gln) g.38079969G>T Copied from the Exome Variant Server SRPX_000079 1/9084 1/5870 0/3214
?/? c.97+49C>G r.(=) p.(=) g.38079900G>C Copied from the Exome Variant Server SRPX_000078 108/9631 58/6215 50/3416
?/? c.98-52G>A r.(=) p.(=) g.38037649C>T Copied from the Exome Variant Server SRPX_000077 1/6036 0/3621 1/2415
?/? c.98-44T>C r.(=) p.(=) g.38037641A>G Copied from the Exome Variant Server SRPX_000076 2/10561 2/6728 0/3833
?/? c.98-6T>C r.(=) p.(=) g.38037603A>G Copied from the Exome Variant Server SRPX_000075 1/10561 1/6728 0/3833
?/? c.98-3T>C r.spl? p.? g.38037600A>G Copied from the Exome Variant Server SRPX_000074 175/10561 1/6728 174/3833
?/? c.102G>A r.(=) p.(=) g.38037593C>T Copied from the Exome Variant Server SRPX_000073 1/10561 1/6728 0/3833
?/? c.108C>T r.(=) p.(=) g.38037587G>A Copied from the Exome Variant Server SRPX_000072 3/10561 2/6728 1/3833
?/? c.122A>G r.(?) p.(Asp41Gly) g.38037573T>C Copied from the Exome Variant Server SRPX_000070 1/10561 1/6728 0/3833
?/? c.141A>T r.(=) p.(=) g.38037554T>A Copied from the Exome Variant Server SRPX_000068 2/10561 2/6728 0/3833
?/? c.157+59T>A r.(=) p.(=) g.38037479A>T Copied from the Exome Variant Server SRPX_000066 1156/3600 984/2391 172/1209
?/? c.158-31T>G r.(=) p.(=) g.38033635A>C Copied from the Exome Variant Server SRPX_000064 122/10561 110/6728 12/3833
?/? c.164C>T r.(?) p.(Pro55Leu) g.38033598G>A Copied from the Exome Variant Server SRPX_000062 1/10561 1/6728 0/3833
?/? c.224G>T r.(?) p.(Gly75Val) g.38033538C>A Copied from the Exome Variant Server SRPX_000060 3/10561 0/6728 3/3833
?/? c.236C>A r.(?) p.(Thr79Lys) g.38033526G>T Copied from the Exome Variant Server SRPX_000058 1/10561 1/6728 0/3833
?/? c.249C>A r.(=) p.(=) g.38033513G>T Copied from the Exome Variant Server SRPX_000056 1/10561 1/6728 0/3833
?/? c.262C>T r.(?) p.(Arg88Cys) g.38033500G>A Copied from the Exome Variant Server SRPX_000071 1/10561 1/6728 0/3833
?/? c.337G>T r.(?) p.(Val113Phe) g.38033425C>A Copied from the Exome Variant Server SRPX_000069 1/10561 0/6728 1/3833
?/? c.347A>G r.(?) p.(Lys116Arg) g.38033415T>C Copied from the Exome Variant Server SRPX_000067 907/10561 6/6728 901/3833
?/? c.362C>T r.(?) p.(Pro121Leu) g.38031298G>A Copied from the Exome Variant Server SRPX_000065 2/10561 0/6728 2/3833
?/? c.371C>T r.(?) p.(Ala124Val) g.38031289G>A Copied from the Exome Variant Server SRPX_000063 1/10561 1/6728 0/3833
?/? c.402A>G r.(=) p.(=) g.38031258T>C Copied from the Exome Variant Server SRPX_000061 1/10561 1/6728 0/3833
?/? c.425G>A r.(?) p.(Arg142Gln) g.38031235C>T Copied from the Exome Variant Server SRPX_000059 16/10561 9/6728 7/3833
?/? c.430G>A r.(?) p.(Glu144Lys) g.38031230C>T Copied from the Exome Variant Server SRPX_000057 1/10561 1/6728 0/3833
?/? c.432G>A r.(=) p.(=) g.38031228C>T Copied from the Exome Variant Server SRPX_000055 9/10561 9/6728 0/3833
?/? c.469C>T r.(?) p.(Arg157Trp) g.38031191G>A Copied from the Exome Variant Server SRPX_000054 3/10561 0/6728 3/3833
?/? c.504C>T r.(=) p.(=) g.38031156G>A Copied from the Exome Variant Server SRPX_000053 3/10561 0/6728 3/3833
?/? c.508C>T r.(?) p.(Arg170Trp) g.38031152G>A Copied from the Exome Variant Server SRPX_000052 1/10561 1/6728 0/3833
?/? c.527-11T>C r.(=) p.(=) g.38024159A>G Copied from the Exome Variant Server SRPX_000051 1/10561 1/6728 0/3833
?/? c.532G>C r.(?) p.(Glu178Gln) g.38024143C>G Copied from the Exome Variant Server SRPX_000050 1/10561 1/6728 0/3833
?/? c.593C>T r.(?) p.(Thr198Ile) g.38024082G>A Copied from the Exome Variant Server SRPX_000049 6/10561 0/6728 6/3833
?/? c.596T>C r.(?) p.(Val199Ala) g.38024079A>G Copied from the Exome Variant Server SRPX_000048 5/10561 5/6728 0/3833
?/? c.601G>A r.(?) p.(Val201Met) g.38024074C>T Copied from the Exome Variant Server SRPX_000047 2/10561 0/6728 2/3833
?/? c.619_620insG r.(?) p.(Glu207Glyfs*12) g.38024055_38024056insC Copied from the Exome Variant Server SRPX_000046 16/10205 13/6484 3/3721
?/? c.622G>A r.(?) p.(Gly208Arg) g.38024053C>T Copied from the Exome Variant Server SRPX_000045 1/10561 1/6728 0/3833
?/? c.654-23G>C r.(=) p.(=) g.38020330C>G Copied from the Exome Variant Server SRPX_000044 5/10560 0/6727 5/3833
?/? c.673C>T r.(?) p.(Pro225Ser) g.38020288G>A Copied from the Exome Variant Server SRPX_000043 100/10560 89/6727 11/3833
?/? c.676C>G r.(?) p.(Pro226Ala) g.38020285G>C Copied from the Exome Variant Server SRPX_000042 5/10560 0/6727 5/3833
?/? c.690T>C r.(=) p.(=) g.38020271A>G Copied from the Exome Variant Server SRPX_000041 1/10560 1/6727 0/3833
?/? c.711C>G r.(?) p.(Ile237Met) g.38020250G>C Copied from the Exome Variant Server SRPX_000040 2/10560 2/6727 0/3833
?/? c.769G>C r.(?) p.(Val257Leu) g.38020192C>G Copied from the Exome Variant Server SRPX_000039 1/10561 1/6728 0/3833
?/? c.775+19G>A r.(=) p.(=) g.38020167C>T Copied from the Exome Variant Server SRPX_000038 1/10561 0/6728 1/3833
?/? c.776-30T>A r.(=) p.(=) g.38019479A>T Copied from the Exome Variant Server SRPX_000037 1/10561 0/6728 1/3833
?/? c.804A>G r.(=) p.(=) g.38019421T>C Copied from the Exome Variant Server SRPX_000036 1/10561 1/6728 0/3833
?/? c.831C>T r.(=) p.(=) g.38019394G>A Copied from the Exome Variant Server SRPX_000035 1/10561 1/6728 0/3833
?/? c.835G>A r.(?) p.(Gly279Ser) g.38019390C>T Copied from the Exome Variant Server SRPX_000034 1/10561 0/6728 1/3833
?/? c.836G>A r.(?) p.(Gly279Asp) g.38019389C>T Copied from the Exome Variant Server SRPX_000033 1/10561 0/6728 1/3833
?/? c.873C>T r.(=) p.(=) g.38019352G>A Copied from the Exome Variant Server SRPX_000032 12/10561 2/6728 10/3833
?/? c.876C>T r.(=) p.(=) g.38019349G>A Copied from the Exome Variant Server SRPX_000031 2/10561 0/6728 2/3833
?/? c.896G>T r.(?) p.(Ser299Ile) g.38019329C>A Copied from the Exome Variant Server SRPX_000030 5/10561 0/6728 5/3833
?/? c.904C>G r.(?) p.(Arg302Gly) g.38019321G>C Copied from the Exome Variant Server SRPX_000029 1/10561 1/6728 0/3833
?/? c.906A>G r.(=) p.(=) g.38019319T>C Copied from the Exome Variant Server SRPX_000028 1/10561 1/6728 0/3833
?/? c.948C>A r.(=) p.(=) g.38019277G>T Copied from the Exome Variant Server SRPX_000027 1/10561 0/6728 1/3833
?/? c.955+11C>T r.(=) p.(=) g.38019259G>A Copied from the Exome Variant Server SRPX_000026 4/10561 2/6728 2/3833
?/? c.955+34C>A r.(=) p.(=) g.38019236G>T Copied from the Exome Variant Server SRPX_000025 1/10557 1/6724 0/3833
?/? c.955+39A>G r.(=) p.(=) g.38019231T>C Copied from the Exome Variant Server SRPX_000024 5/10557 4/6724 1/3833
?/? c.955+48G>A r.(=) p.(=) g.38019222C>T Copied from the Exome Variant Server SRPX_000023 1/10552 1/6722 0/3830
?/? c.956-49C>T r.(=) p.(=) g.38016331G>A Copied from the Exome Variant Server SRPX_000022 248/10561 0/6728 248/3833
?/? c.956-34G>A r.(=) p.(=) g.38016316C>T Copied from the Exome Variant Server SRPX_000021 1/10561 1/6728 0/3833
?/? c.965T>C r.(?) p.(Val322Ala) g.38016273A>G Copied from the Exome Variant Server SRPX_000020 1/10561 0/6728 1/3833
?/? c.983C>T r.(?) p.(Thr328Met) g.38016255G>A Copied from the Exome Variant Server SRPX_000019 5/10561 0/6728 5/3833
?/? c.1089+10C>T r.(=) p.(=) g.38016139G>A Copied from the Exome Variant Server SRPX_000018 3/10561 3/6728 0/3833
?/? c.1090-43del r.(=) p.(=) g.38013879del Copied from the Exome Variant Server SRPX_000017 8/10202 5/6482 3/3720
?/? c.1090-25C>A r.(=) p.(=) g.38013861G>T Copied from the Exome Variant Server SRPX_000016 1/10560 0/6727 1/3833
?/? c.1090C>A r.(?) p.(Gln364Lys) g.38013836G>T Copied from the Exome Variant Server SRPX_000015 1/10561 1/6728 0/3833
?/? c.1115G>T r.(?) p.(Arg372Leu) g.38013811C>A Copied from the Exome Variant Server SRPX_000014 4/10561 4/6728 0/3833
?/? c.1125C>T r.(=) p.(=) g.38013801G>A Copied from the Exome Variant Server SRPX_000013 5/10561 2/6728 3/3833
?/? c.1138G>A r.(?) p.(Val380Met) g.38013788C>T Copied from the Exome Variant Server SRPX_000012 1/10560 0/6727 1/3833
?/? c.1183A>T r.(?) p.(Met395Leu) g.38013743T>A Copied from the Exome Variant Server SRPX_000011 15/10560 0/6727 15/3833
?/? c.1200G>A r.(=) p.(=) g.38013726C>T Copied from the Exome Variant Server SRPX_000010 11/10560 11/6727 0/3833
?/? c.1211+5G>T r.spl? p.? g.38013710C>A Copied from the Exome Variant Server SRPX_000009 1/10559 0/6726 1/3833
?/? c.1212-51C>T r.(=) p.(=) g.38009198G>A Copied from the Exome Variant Server SRPX_000008 1/10546 0/6716 1/3830
?/? c.1223G>A r.(?) p.(Arg408Gln) g.38009136C>T Copied from the Exome Variant Server SRPX_000007 1/10561 1/6728 0/3833
?/? c.1238C>T r.(?) p.(Ser413Phe) g.38009121G>A Copied from the Exome Variant Server SRPX_000006 576/10561 531/6728 45/3833
?/? c.1257G>T r.(=) p.(=) g.38009102C>A Copied from the Exome Variant Server SRPX_000005 4/10561 0/6728 4/3833
?/? c.1261A>G r.(?) p.(Lys421Glu) g.38009098T>C Copied from the Exome Variant Server SRPX_000004 1/10561 0/6728 1/3833
?/? c.1279G>C r.(?) p.(Glu427Gln) g.38009080C>G Copied from the Exome Variant Server SRPX_000003 1/10561 1/6728 0/3833
?/? c.1356G>A r.(?) p.(Met452Ile) g.38009003C>T Copied from the Exome Variant Server SRPX_000002 1/10561 0/6728 1/3833
?/? c.*36G>T r.(=) p.(=) g.38008928C>A Copied from the Exome Variant Server SRPX_000001 1/10561 1/6728 0/3833
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