Unique variants in gene ASPSCR1

Information The variants shown are described using the NM_024083.2 transcript reference sequence.

184 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.103-69T>C r.(=) p.(=) g.79936991T>C Copied from the Exome Variant Server ASPSCR1_000001 1/4566 1/3182 0/1384
1 c.103-50C>T r.(=) p.(=) g.79937010C>T Copied from the Exome Variant Server ASPSCR1_000002 26/13006 0/8600 26/4406
1 c.103-19C>T r.(=) p.(=) g.79937041C>T Copied from the Exome Variant Server ASPSCR1_000003 1/13006 1/8600 0/4406
1 c.121C>T r.(?) p.(Arg41Trp) g.79937078C>T Copied from the Exome Variant Server ASPSCR1_000004 6/13006 0/8600 6/4406
1 c.122G>A r.(?) p.(Arg41Gln) g.79937079G>A Copied from the Exome Variant Server ASPSCR1_000005 1/13004 1/8598 0/4406
1 c.158+23G>T r.(=) p.(=) g.79937138G>T Copied from the Exome Variant Server ASPSCR1_000006 4/13004 0/8598 4/4406
1 c.159-45G>A r.(=) p.(=) g.79941385G>A Copied from the Exome Variant Server ASPSCR1_000007 1/12996 1/8596 0/4400
1 c.159-40G>C r.(=) p.(=) g.79941390G>C Copied from the Exome Variant Server ASPSCR1_000008 1/13000 0/8598 1/4402
1 c.159-39C>T r.(=) p.(=) g.79941391C>T Copied from the Exome Variant Server ASPSCR1_000009 1/13000 1/8598 0/4402
1 c.159-27G>C r.(=) p.(=) g.79941403G>C Copied from the Exome Variant Server ASPSCR1_000010 1/13004 1/8600 0/4404
1 c.159-24A>G r.(=) p.(=) g.79941406A>G Copied from the Exome Variant Server ASPSCR1_000011 2/13004 1/8600 1/4404
1 c.177C>T r.(=) p.(=) g.79941448C>T Copied from the Exome Variant Server ASPSCR1_000012 1/13006 1/8600 0/4406
1 c.206A>G r.(?) p.(Asn69Ser) g.79941477A>G Copied from the Exome Variant Server ASPSCR1_000013 1/13006 1/8600 0/4406
1 c.221C>T r.(?) p.(Ala74Val) g.79941492C>T Copied from the Exome Variant Server ASPSCR1_000014 1/13006 1/8600 0/4406
1 c.240C>T r.(=) p.(=) g.79941511C>T Copied from the Exome Variant Server ASPSCR1_000015 184/13006 162/8600 22/4406
1 c.241G>T r.(?) p.(Ala81Ser) g.79941512G>T Copied from the Exome Variant Server ASPSCR1_000016 1/13006 1/8600 0/4406
1 c.245C>T r.(?) p.(Ser82Phe) g.79941516C>T Copied from the Exome Variant Server ASPSCR1_000017 6/13006 0/8600 6/4406
1 c.270C>T r.(=) p.(=) g.79941541C>T Copied from the Exome Variant Server ASPSCR1_000018 1/13004 0/8598 1/4406
1 c.273G>T r.(?) p.(Met91Ile) g.79941544G>T Copied from the Exome Variant Server ASPSCR1_000019 8/13004 4/8598 4/4406
1 c.273+45C>T r.(=) p.(=) g.79941589C>T Copied from the Exome Variant Server ASPSCR1_000020 3/13000 0/8596 3/4404
1 c.273+46G>A r.(=) p.(=) g.79941590G>A Copied from the Exome Variant Server ASPSCR1_000021 1/12996 1/8592 0/4404
1 c.274-34C>T r.(=) p.(=) g.79943349C>T Copied from the Exome Variant Server ASPSCR1_000022 5/13004 1/8600 4/4404
1 c.274-14C>G r.(=) p.(=) g.79943369C>G Copied from the Exome Variant Server ASPSCR1_000023 1/13006 1/8600 0/4406
1 c.274-8C>T r.(=) p.(=) g.79943375C>T Copied from the Exome Variant Server ASPSCR1_000024 2/13006 2/8600 0/4406
1 c.274-6C>T r.(=) p.(=) g.79943377C>T Copied from the Exome Variant Server ASPSCR1_000025 1/13006 0/8600 1/4406
1 c.277C>T r.(?) p.(Arg93Cys) g.79943386C>T Copied from the Exome Variant Server ASPSCR1_000026 9/13006 0/8600 9/4406
1 c.278G>A r.(?) p.(Arg93His) g.79943387G>A Copied from the Exome Variant Server ASPSCR1_000027 1/13006 0/8600 1/4406
1 c.279C>T r.(=) p.(=) g.79943388C>T Copied from the Exome Variant Server ASPSCR1_000028 1/13006 1/8600 0/4406
1 c.282C>T r.(=) p.(=) g.79943391C>T Copied from the Exome Variant Server ASPSCR1_000029 1/13006 0/8600 1/4406
1 c.295G>A r.(?) p.(Asp99Asn) g.79943404G>A Copied from the Exome Variant Server ASPSCR1_000030 2/13006 2/8600 0/4406
1 c.298G>A r.(?) p.(Asp100Asn) g.79943407G>A Copied from the Exome Variant Server ASPSCR1_000031 2/13006 2/8600 0/4406
1 c.306G>A r.(=) p.(=) g.79943415G>A Copied from the Exome Variant Server ASPSCR1_000032 32/13006 31/8600 1/4406
1 c.321_322del r.(?) p.(Phe108Leufs*36) g.79943430_79943431del Copied from the Exome Variant Server ASPSCR1_000033 1/12518 1/8254 0/4264
1 c.322T>C r.(?) p.(Phe108Leu) g.79943431T>C Copied from the Exome Variant Server ASPSCR1_000034 8/13006 0/8600 8/4406
1 c.366A>G r.(=) p.(=) g.79943475A>G Copied from the Exome Variant Server ASPSCR1_000035 235/13006 0/8600 235/4406
1 c.374+5G>A r.spl? p.? g.79943488G>A Copied from the Exome Variant Server ASPSCR1_000036 13/13002 0/8598 13/4404
1 c.374+13G>A r.(=) p.(=) g.79943496G>A Copied from the Exome Variant Server ASPSCR1_000037 2/13002 2/8598 0/4404
1 c.375-46T>G r.(=) p.(=) g.79952651T>G Copied from the Exome Variant Server ASPSCR1_000038 1/13006 0/8600 1/4406
1 c.375-17C>A r.(=) p.(=) g.79952680C>A Copied from the Exome Variant Server ASPSCR1_000039 1/13006 0/8600 1/4406
1 c.378G>A r.(=) p.(=) g.79952700G>A Copied from the Exome Variant Server ASPSCR1_000040 575/13006 244/8600 331/4406
1 c.393C>T r.(=) p.(=) g.79952715C>T Copied from the Exome Variant Server ASPSCR1_000041 1/13006 1/8600 0/4406
1 c.414C>T r.(=) p.(=) g.79952736C>T Copied from the Exome Variant Server ASPSCR1_000042 2/13006 2/8600 0/4406
1 c.432+7G>A r.(=) p.(=) g.79952761G>A Copied from the Exome Variant Server ASPSCR1_000043 2/13006 0/8600 2/4406
1 c.432+30C>A r.(=) p.(=) g.79952784C>A Copied from the Exome Variant Server ASPSCR1_000044 4/13006 4/8600 0/4406
1 c.432+32C>T r.(=) p.(=) g.79952786C>T Copied from the Exome Variant Server ASPSCR1_000045 3/13006 2/8600 1/4406
1 c.432+33G>A r.(=) p.(=) g.79952787G>A Copied from the Exome Variant Server ASPSCR1_000046 1/13006 1/8600 0/4406
1 c.433-48C>A r.(=) p.(=) g.79953820C>A Copied from the Exome Variant Server ASPSCR1_000047 1/12940 1/8574 0/4366
1 c.433-32A>G r.(=) p.(=) g.79953836A>G Copied from the Exome Variant Server ASPSCR1_000048 5/12974 0/8580 5/4394
1 c.437C>T r.(?) p.(Thr146Met) g.79953872C>T Copied from the Exome Variant Server ASPSCR1_000049 2/12994 1/8592 1/4402
1 c.454C>T r.(?) p.(Arg152Trp) g.79953889C>T Copied from the Exome Variant Server ASPSCR1_000050 2/12996 2/8594 0/4402
1 c.459C>T r.(=) p.(=) g.79953894C>T Copied from the Exome Variant Server ASPSCR1_000051 10/12994 10/8592 0/4402
1 c.461C>T r.(?) p.(Thr154Met) g.79953896C>T Copied from the Exome Variant Server ASPSCR1_000052 1/12994 1/8592 0/4402
1 c.463A>T r.(?) p.(Thr155Ser) g.79953898A>T Copied from the Exome Variant Server ASPSCR1_000053 1/12996 0/8594 1/4402
1 c.465G>A r.(=) p.(=) g.79953900G>A Copied from the Exome Variant Server ASPSCR1_000055 1/12992 1/8594 0/4398
1 c.486C>T r.(=) p.(=) g.79953921C>T Copied from the Exome Variant Server ASPSCR1_000056 1/12994 0/8596 1/4398
1 c.489G>A r.(=) p.(=) g.79953924G>A Copied from the Exome Variant Server ASPSCR1_000058 1/12994 1/8598 0/4396
1 c.491G>A r.(?) p.(Gly164Asp) g.79953926G>A Copied from the Exome Variant Server ASPSCR1_000054 1/12994 0/8598 1/4396
1 c.501C>T r.(=) p.(=) g.79953936C>T Copied from the Exome Variant Server ASPSCR1_000057 1/12990 1/8596 0/4394
1 c.506+41del r.(=) p.(=) g.79953982del Copied from the Exome Variant Server ASPSCR1_000060 1302/12254 880/8118 422/4136
1 c.506+41dup r.(=) p.(=) g.79953982dup Copied from the Exome Variant Server ASPSCR1_000059 281/12254 175/8118 106/4136
1 c.507-45G>T r.(=) p.(=) g.79954251G>T Copied from the Exome Variant Server ASPSCR1_000061 1/12998 1/8598 0/4400
1 c.507-32A>T r.(=) p.(=) g.79954264A>T Copied from the Exome Variant Server ASPSCR1_000062 39/13006 0/8600 39/4406
1 c.507-19G>A r.(=) p.(=) g.79954277G>A Copied from the Exome Variant Server ASPSCR1_000063 1/13006 0/8600 1/4406
1 c.507-5C>T r.spl? p.? g.79954291C>T Copied from the Exome Variant Server ASPSCR1_000064 4/13006 3/8600 1/4406
1 c.566C>T r.(?) p.(Ala189Val) g.79954355C>T Copied from the Exome Variant Server ASPSCR1_000065 1/13004 0/8600 1/4404
1 c.569C>T r.(?) p.(Ser190Leu) g.79954358C>T Copied from the Exome Variant Server ASPSCR1_000066 3/13002 0/8600 3/4402
1 c.585C>T r.(=) p.(=) g.79954374C>T Copied from the Exome Variant Server ASPSCR1_000067 1/13000 0/8598 1/4402
1 c.592G>A r.(?) p.(Ala198Thr) g.79954381G>A Copied from the Exome Variant Server ASPSCR1_000068 1/13002 1/8598 0/4404
1 c.626G>A r.(?) p.(Arg209His) g.79954415G>A Copied from the Exome Variant Server ASPSCR1_000069 1/12996 1/8596 0/4400
1 c.630C>T r.(=) p.(=) g.79954419C>T Copied from the Exome Variant Server ASPSCR1_000070 1/12998 1/8596 0/4402
1 c.631G>A r.(?) p.(Asp211Asn) g.79954420G>A Copied from the Exome Variant Server ASPSCR1_000071 1/13000 1/8598 0/4402
1 c.640C>T r.(?) p.(Arg214Cys) g.79954429C>T Copied from the Exome Variant Server ASPSCR1_000072 1/13000 1/8598 0/4402
1 c.641G>T r.(?) p.(Arg214Leu) g.79954430G>T Copied from the Exome Variant Server ASPSCR1_000073 1/13000 1/8598 0/4402
1 c.653C>T r.(?) p.(Ala218Val) g.79954442C>T Copied from the Exome Variant Server ASPSCR1_000074 1/13006 1/8600 0/4406
1 c.712G>A r.(?) p.(Ala238Thr) g.79954501G>A Copied from the Exome Variant Server ASPSCR1_000075 1/13006 1/8600 0/4406
1 c.741T>G r.(=) p.(=) g.79954530T>G Copied from the Exome Variant Server ASPSCR1_000076 1/12998 1/8592 0/4406
1 c.755T>A r.(?) p.(Leu252Gln) g.79954544T>A Copied from the Exome Variant Server ASPSCR1_000077 6459/12998 4910/8592 1549/4406
1 c.780G>A r.(=) p.(=) g.79954569G>A Copied from the Exome Variant Server ASPSCR1_000078 1/12994 1/8588 0/4406
1 c.819C>T r.(=) p.(=) g.79954608C>T Copied from the Exome Variant Server ASPSCR1_000079 4/13006 4/8600 0/4406
1 c.841A>G r.(?) p.(Lys281Glu) g.79954630A>G Copied from the Exome Variant Server ASPSCR1_000080 1/12996 0/8594 1/4402
1 c.852G>T r.(?) p.(Lys284Asn) g.79954641G>T Copied from the Exome Variant Server ASPSCR1_000081 1/13004 1/8600 0/4404
1 c.875_880del r.(?) p.(Gln297_Glu298del) g.79954664_79954669del Copied from the Exome Variant Server ASPSCR1_000082 10/12478 4/8226 6/4252
1 c.902G>A r.(?) p.(Arg301Gln) g.79954691G>A Copied from the Exome Variant Server ASPSCR1_000083 1/12986 0/8588 1/4398
1 c.911_916del r.(?) p.(Gln307_Glu308del) g.79954700_79954705del Copied from the Exome Variant Server ASPSCR1_000084 3/12408 3/8186 0/4222
1 c.933+33G>A r.(=) p.(=) g.79954755G>A Copied from the Exome Variant Server ASPSCR1_000085 1/12854 0/8500 1/4354
1 c.933+42C>T r.(=) p.(=) g.79954764C>T Copied from the Exome Variant Server ASPSCR1_000086 1/12820 1/8500 0/4320
1 c.934-46G>A r.(=) p.(=) g.79966867G>A Copied from the Exome Variant Server ASPSCR1_000087 323/10172 39/6764 284/3408
1 c.934-27G>A r.(=) p.(=) g.79966886G>A Copied from the Exome Variant Server ASPSCR1_000088 1/11130 1/7350 0/3780
1 c.934-24G>A r.(=) p.(=) g.79966889G>A Copied from the Exome Variant Server ASPSCR1_000089 1/11324 1/7470 0/3854
1 c.934-2_946del r.spl? p.? g.79966911_79966925del Copied from the Exome Variant Server ASPSCR1_000090 73/11458 25/7574 48/3884
1 c.952G>A r.(?) p.(Val318Met) g.79966931G>A Copied from the Exome Variant Server ASPSCR1_000091 357/12728 11/8446 346/4282
1 c.966G>A r.(=) p.(=) g.79966945G>A Copied from the Exome Variant Server ASPSCR1_000092 1/12898 1/8552 0/4346
1 c.981C>T r.(=) p.(=) g.79966960C>T Copied from the Exome Variant Server ASPSCR1_000093 10/12926 9/8572 1/4354
1 c.1020G>A r.(=) p.(=) g.79966999G>A Copied from the Exome Variant Server ASPSCR1_000094 1/12974 1/8594 0/4380
1 c.1047G>A r.(=) p.(=) g.79967026G>A Copied from the Exome Variant Server ASPSCR1_000095 1/12992 1/8592 0/4400
1 c.1061G>A r.(?) p.(Arg354Lys) g.79967040G>A Copied from the Exome Variant Server ASPSCR1_000096 1/12996 1/8594 0/4402
1 c.1089-27C>T r.(=) p.(=) g.79967335C>T Copied from the Exome Variant Server ASPSCR1_000097 2/12840 2/8518 0/4322
1 c.1131G>C r.(?) p.(Arg377Ser) g.79967404G>C Copied from the Exome Variant Server ASPSCR1_000098 1/12950 1/8576 0/4374
1 c.1170+24G>A r.(=) p.(=) g.79967467G>A Copied from the Exome Variant Server ASPSCR1_000099 1/12850 1/8524 0/4326
1 c.1170+54del r.(=) p.(=) g.79967497del Copied from the Exome Variant Server ASPSCR1_000100 4896/11758 2974/7784 1922/3974
Legend   « First ‹ Prev     1 2     Next › Last »