Unique variants in gene BMPER

Information The variants shown are described using the NM_133468.4 transcript reference sequence.

147 entries on 2 pages. Showing entries 1 - 100.
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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.-25C>A r.(=) p.(=) g.33945201C>A Copied from the Exome Variant Server BMPER_000001 157/13004 2/8600 155/4404
1 c.16G>C r.(?) p.(Gly6Arg) g.33945241G>C Copied from the Exome Variant Server BMPER_000002 1/13006 0/8600 1/4406
1 c.18C>A r.(=) p.(=) g.33945243C>A Copied from the Exome Variant Server BMPER_000003 1/13006 1/8600 0/4406
1 c.32C>A r.(?) p.(Ala11Asp) g.33945257C>A Copied from the Exome Variant Server BMPER_000004 1/13006 0/8600 1/4406
1 c.53C>G r.(?) p.(Ser18Trp) g.33945278C>G Copied from the Exome Variant Server BMPER_000005 1/13006 1/8600 0/4406
1 c.74T>C r.(?) p.(Val25Ala) g.33945299T>C Copied from the Exome Variant Server BMPER_000006 1/13006 0/8600 1/4406
1 c.89A>G r.(?) p.(Asn30Ser) g.33945314A>G Copied from the Exome Variant Server BMPER_000007 1/13006 1/8600 0/4406
1 c.100G>T r.(?) p.(Val34Phe) g.33945325G>T Copied from the Exome Variant Server BMPER_000008 1/13006 1/8600 0/4406
1 c.106A>G r.(?) p.(Met36Val) g.33945331A>G Copied from the Exome Variant Server BMPER_000009 1/13006 0/8600 1/4406
1 c.133+9G>C r.(=) p.(=) g.33945367G>C Copied from the Exome Variant Server BMPER_000010 192/12996 2/8592 190/4404
1 c.133+38G>C r.(=) p.(=) g.33945396G>C Copied from the Exome Variant Server BMPER_000011 125/12982 114/8584 11/4398
1 c.134-57T>C r.(=) p.(=) g.33946373T>C Copied from the Exome Variant Server BMPER_000012 1/4566 1/3182 0/1384
1 c.134-48G>A r.(=) p.(=) g.33946382G>A Copied from the Exome Variant Server BMPER_000013 1/13006 1/8600 0/4406
1 c.134-39C>G r.(=) p.(=) g.33946391C>G Copied from the Exome Variant Server BMPER_000014 153/13006 2/8600 151/4406
1 c.168C>T r.(=) p.(=) g.33946464C>T Copied from the Exome Variant Server BMPER_000015 15/13006 0/8600 15/4406
1 c.219+17G>C r.(=) p.(=) g.33946532G>C Copied from the Exome Variant Server BMPER_000016 1/13006 0/8600 1/4406
1 c.219+18G>C r.(=) p.(=) g.33946533G>C Copied from the Exome Variant Server BMPER_000017 28/13006 28/8600 0/4406
1 c.219+51T>C r.(=) p.(=) g.33946566T>C Copied from the Exome Variant Server BMPER_000018 1/13006 1/8600 0/4406
1 c.220-30T>G r.(=) p.(=) g.33976871T>G Copied from the Exome Variant Server BMPER_000019 1/13006 1/8600 0/4406
1 c.220-19C>T r.(=) p.(=) g.33976882C>T Copied from the Exome Variant Server BMPER_000020 2/13006 2/8600 0/4406
1 c.220-18G>A r.(=) p.(=) g.33976883G>A Copied from the Exome Variant Server BMPER_000021 1/13006 0/8600 1/4406
1 c.220-14C>G r.(=) p.(=) g.33976887C>G Copied from the Exome Variant Server BMPER_000022 1/13006 0/8600 1/4406
1 c.220A>G r.(?) p.(Asn74Asp) g.33976901A>G Copied from the Exome Variant Server BMPER_000023 27/13006 22/8600 5/4406
1 c.229G>A r.(?) p.(Val77Met) g.33976910G>A Copied from the Exome Variant Server BMPER_000024 2/13006 2/8600 0/4406
1 c.246G>A r.(=) p.(=) g.33976927G>A Copied from the Exome Variant Server BMPER_000025 2/13006 2/8600 0/4406
1 c.254C>T r.(?) p.(Pro85Leu) g.33976935C>T Copied from the Exome Variant Server BMPER_000026 5/13006 5/8600 0/4406
1 c.256G>A r.(?) p.(Val86Met) g.33976937G>A Copied from the Exome Variant Server BMPER_000027 1/13006 1/8600 0/4406
1 c.291G>A r.(=) p.(=) g.33976972G>A Copied from the Exome Variant Server BMPER_000028 1/13006 0/8600 1/4406
1 c.305G>A r.(?) p.(Cys102Tyr) g.33976986G>A Copied from the Exome Variant Server BMPER_000029 1/13006 0/8600 1/4406
1 c.319+18C>T r.(=) p.(=) g.33977018C>T Copied from the Exome Variant Server BMPER_000030 1/13006 1/8600 0/4406
1 c.320-45T>A r.(=) p.(=) g.34006046T>A Copied from the Exome Variant Server BMPER_000031 1/13006 0/8600 1/4406
1 c.320-24C>T r.(=) p.(=) g.34006067C>T Copied from the Exome Variant Server BMPER_000032 1/13006 1/8600 0/4406
1 c.320-6G>C r.(=) p.(=) g.34006085G>C Copied from the Exome Variant Server BMPER_000033 1/13006 1/8600 0/4406
1 c.342C>G r.(=) p.(=) g.34006113C>G Copied from the Exome Variant Server BMPER_000034 1/13006 0/8600 1/4406
1 c.353C>T r.(?) p.(Ser118Phe) g.34006124C>T Copied from the Exome Variant Server BMPER_000035 1/13006 1/8600 0/4406
1 c.361T>C r.(?) p.(Trp121Arg) g.34006132T>C Copied from the Exome Variant Server BMPER_000036 1/13004 0/8598 1/4406
1 c.371C>T r.(?) p.(Pro124Leu) g.34006142C>T Copied from the Exome Variant Server BMPER_000037 1/13004 1/8598 0/4406
1 c.391C>T r.(?) p.(Arg131Cys) g.34006162C>T Copied from the Exome Variant Server BMPER_000038 1/13006 1/8600 0/4406
1 c.402+10A>C r.(=) p.(=) g.34006183A>C Copied from the Exome Variant Server BMPER_000039 1/13006 1/8600 0/4406
1 c.402+41A>G r.(=) p.(=) g.34006214A>G Copied from the Exome Variant Server BMPER_000040 3/13006 3/8600 0/4406
1 c.402+50del r.(=) p.(=) g.34006223del Copied from the Exome Variant Server BMPER_000041 1/12516 0/8252 1/4264
1 c.403-13T>C r.(=) p.(=) g.34009928T>C Copied from the Exome Variant Server BMPER_000043 13/13006 13/8600 0/4406
1 c.403-12_403-11del r.(=) p.(=) g.34009929_34009930del Copied from the Exome Variant Server BMPER_000045 31/12518 8/8254 23/4264
1 c.408C>T r.(=) p.(=) g.34009946C>T Copied from the Exome Variant Server BMPER_000047 5705/13006 4002/8600 1703/4406
1 c.417A>T r.(=) p.(=) g.34009955A>T Copied from the Exome Variant Server BMPER_000049 74/13006 64/8600 10/4406
1 c.419A>G r.(?) p.(Glu140Gly) g.34009957A>G Copied from the Exome Variant Server BMPER_000051 1/13006 0/8600 1/4406
1 c.474G>A r.(?) p.(Met158Ile) g.34010012G>A Copied from the Exome Variant Server BMPER_000053 393/13006 2/8600 391/4406
1 c.486A>G r.(=) p.(=) g.34010024A>G Copied from the Exome Variant Server BMPER_000056 1/13006 1/8600 0/4406
1 c.493+5C>T r.spl? p.? g.34010036C>T Copied from the Exome Variant Server BMPER_000058 19/13006 16/8600 3/4406
1 c.493+6G>A r.(=) p.(=) g.34010037G>A Copied from the Exome Variant Server BMPER_000060 1/13006 0/8600 1/4406
1 c.494-43T>C r.(=) p.(=) g.34014271T>C Copied from the Exome Variant Server BMPER_000042 2/13006 1/8600 1/4406
1 c.494-26A>T r.(=) p.(=) g.34014288A>T Copied from the Exome Variant Server BMPER_000044 1/13006 1/8600 0/4406
1 c.494-9G>A r.(=) p.(=) g.34014305G>A Copied from the Exome Variant Server BMPER_000046 1/13006 1/8600 0/4406
1 c.505G>A r.(?) p.(Glu169Lys) g.34014325G>A Copied from the Exome Variant Server BMPER_000048 3/13006 2/8600 1/4406
1 c.576+26G>A r.(=) p.(=) g.34014422G>A Copied from the Exome Variant Server BMPER_000050 1/13006 0/8600 1/4406
1 c.577-44C>A r.(=) p.(=) g.34085874C>A Copied from the Exome Variant Server BMPER_000052 1/13006 0/8600 1/4406
1 c.577-23del r.(=) p.(=) g.34085895del Copied from the Exome Variant Server BMPER_000055 111/12518 29/8254 82/4264
1 c.577-23dup r.(=) p.(=) g.34085895dup Copied from the Exome Variant Server BMPER_000054 5/12518 4/8254 1/4264
1 c.577-18T>C r.(=) p.(=) g.34085900T>C Copied from the Exome Variant Server BMPER_000057 2/13006 0/8600 2/4406
1 c.580G>A r.(?) p.(Gly194Ser) g.34085921G>A Copied from the Exome Variant Server BMPER_000059 54/13006 20/8600 34/4406
1 c.583A>G r.(?) p.(Arg195Gly) g.34085924A>G Copied from the Exome Variant Server BMPER_000061 1/13006 0/8600 1/4406
1 c.631C>A r.(?) p.(His211Asn) g.34085972C>A Copied from the Exome Variant Server BMPER_000062 1/13006 0/8600 1/4406
1 c.633C>A r.(?) p.(His211Gln) g.34085974C>A Copied from the Exome Variant Server BMPER_000063 1/13006 1/8600 0/4406
1 c.663C>T r.(=) p.(=) g.34086004C>T Copied from the Exome Variant Server BMPER_000064 1/13006 1/8600 0/4406
1 c.664C>T r.(?) p.(Pro222Ser) g.34086005C>T Copied from the Exome Variant Server BMPER_000066 14/13006 0/8600 14/4406
1 c.677-44del r.(=) p.(=) g.34091429del Copied from the Exome Variant Server BMPER_000068 11/12518 8/8254 3/4264
1 c.677-27T>C r.(=) p.(=) g.34091446T>C Copied from the Exome Variant Server BMPER_000070 4/13006 0/8600 4/4406
1 c.759C>T r.(=) p.(=) g.34091555C>T Copied from the Exome Variant Server BMPER_000072 1/13006 1/8600 0/4406
1 c.761A>G r.(?) p.(Asp254Gly) g.34091557A>G Copied from the Exome Variant Server BMPER_000074 1/13006 0/8600 1/4406
1 c.774T>G r.(=) p.(=) g.34091570T>G Copied from the Exome Variant Server BMPER_000076 112/13006 103/8600 9/4406
1 c.786+6G>A r.(=) p.(=) g.34091588G>A Copied from the Exome Variant Server BMPER_000078 1/13006 1/8600 0/4406
1 c.786+7C>T r.(=) p.(=) g.34091589C>T Copied from the Exome Variant Server BMPER_000080 1/13006 1/8600 0/4406
1 c.786+9G>A r.(=) p.(=) g.34091591G>A Copied from the Exome Variant Server BMPER_000082 1/13006 1/8600 0/4406
1 c.786+18G>T r.(=) p.(=) g.34091600G>T Copied from the Exome Variant Server BMPER_000084 57/13006 1/8600 56/4406
1 c.786+29A>C r.(=) p.(=) g.34091611A>C Copied from the Exome Variant Server BMPER_000086 5/13006 0/8600 5/4406
1 c.786+42T>A r.(=) p.(=) g.34091624T>A Copied from the Exome Variant Server BMPER_000065 1/13006 1/8600 0/4406
1 c.787-42C>T r.(=) p.(=) g.34094733C>T Copied from the Exome Variant Server BMPER_000067 1/13006 1/8600 0/4406
1 c.874C>T r.(?) p.(Arg292*) g.34094862C>T Copied from the Exome Variant Server BMPER_000069 1/13006 0/8600 1/4406
1 c.922T>A r.(?) p.(Phe308Ile) g.34094910T>A Copied from the Exome Variant Server BMPER_000071 1/13006 0/8600 1/4406
1 c.927+3A>G r.spl? p.? g.34094918A>G Copied from the Exome Variant Server BMPER_000073 1/13006 0/8600 1/4406
1 c.928-9C>T r.(=) p.(=) g.34097662C>T Copied from the Exome Variant Server BMPER_000075 1/13006 0/8600 1/4406
1 c.946T>C r.(?) p.(Ser316Pro) g.34097689T>C Copied from the Exome Variant Server BMPER_000077 1/13006 0/8600 1/4406
1 c.1032+21G>A r.(=) p.(=) g.34097796G>A Copied from the Exome Variant Server BMPER_000079 4/13006 0/8600 4/4406
1 c.1032+28C>A r.(=) p.(=) g.34097803C>A Copied from the Exome Variant Server BMPER_000081 54/13006 48/8600 6/4406
1 c.1032+35G>A r.(=) p.(=) g.34097810G>A Copied from the Exome Variant Server BMPER_000083 2/13006 2/8600 0/4406
1 c.1033-22T>C r.(=) p.(=) g.34101592T>C Copied from the Exome Variant Server BMPER_000085 1/12994 1/8592 0/4402
1 c.1075G>T r.(?) p.(Glu359*) g.34101656G>T Copied from the Exome Variant Server BMPER_000087 1/13004 1/8598 0/4406
1 c.1079-38G>C r.(=) p.(=) g.34118431G>C Copied from the Exome Variant Server BMPER_000088 15/13006 15/8600 0/4406
1 c.1079-27C>T r.(=) p.(=) g.34118442C>T Copied from the Exome Variant Server BMPER_000089 1/13006 0/8600 1/4406
1 c.1086C>T r.(=) p.(=) g.34118476C>T Copied from the Exome Variant Server BMPER_000090 114/13006 2/8600 112/4406
1 c.1087G>A r.(?) p.(Val363Ile) g.34118477G>A Copied from the Exome Variant Server BMPER_000091 59/13006 2/8600 57/4406
1 c.1129G>C r.(?) p.(Gly377Arg) g.34118519G>C Copied from the Exome Variant Server BMPER_000092 1/13006 0/8600 1/4406
1 c.1155G>A r.(=) p.(=) g.34118545G>A Copied from the Exome Variant Server BMPER_000093 1/13006 1/8600 0/4406
1 c.1164C>T r.(=) p.(=) g.34118554C>T Copied from the Exome Variant Server BMPER_000094 1/13006 1/8600 0/4406
1 c.1207G>A r.(?) p.(Val403Met) g.34118597G>A Copied from the Exome Variant Server BMPER_000095 1/13006 1/8600 0/4406
1 c.1232G>A r.(?) p.(Arg411Gln) g.34118622G>A Copied from the Exome Variant Server BMPER_000096 3/13006 0/8600 3/4406
1 c.1236A>G r.(=) p.(=) g.34118626A>G Copied from the Exome Variant Server BMPER_000097 1/13006 0/8600 1/4406
1 c.1241C>G r.(?) p.(Ser414Cys) g.34118631C>G Copied from the Exome Variant Server BMPER_000098 2/13006 2/8600 0/4406
1 c.1242C>T r.(=) p.(=) g.34118632C>T Copied from the Exome Variant Server BMPER_000099 1/13006 0/8600 1/4406
1 c.1292G>T r.(?) p.(Ser431Ile) g.34118682G>T Copied from the Exome Variant Server BMPER_000100 1/13006 1/8600 0/4406
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