Unique variants in gene ERP44

Information The variants shown are described using the NM_015051.1 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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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.-29C>G r.(=) p.(=) g.102861151G>C Copied from the Exome Variant Server ERP44_000064 1/13006 0/8600 1/4406
1 c.57+25T>C r.(=) p.(=) g.102861041A>G Copied from the Exome Variant Server ERP44_000063 1/13006 1/8600 0/4406
1 c.57+33C>A r.(=) p.(=) g.102861033G>T Copied from the Exome Variant Server ERP44_000062 1/13006 1/8600 0/4406
1 c.57+37C>T r.(=) p.(=) g.102861029G>A Copied from the Exome Variant Server ERP44_000061 1/13006 1/8600 0/4406
1 c.57+40A>G r.(=) p.(=) g.102861026T>C Copied from the Exome Variant Server ERP44_000060 1/13006 1/8600 0/4406
1 c.57+45C>T r.(=) p.(=) g.102861021G>A Copied from the Exome Variant Server ERP44_000059 1/13006 1/8600 0/4406
1 c.74C>T r.(?) p.(Thr25Ile) g.102822438G>A Copied from the Exome Variant Server ERP44_000058 6/12828 0/8504 6/4324
1 c.130A>C r.(?) p.(Asn44His) g.102822382T>G Copied from the Exome Variant Server ERP44_000057 1/12786 1/8486 0/4300
1 c.131-58G>C r.(=) p.(=) g.102820199C>G Copied from the Exome Variant Server ERP44_000056 2/4546 0/3162 2/1384
1 c.131-24T>C r.(=) p.(=) g.102820165A>G Copied from the Exome Variant Server ERP44_000055 1/12992 1/8586 0/4406
1 c.131-20G>T r.(=) p.(=) g.102820161C>A Copied from the Exome Variant Server ERP44_000054 8/12996 7/8590 1/4406
1 c.134A>G r.(?) p.(Asn45Ser) g.102820138T>C Copied from the Exome Variant Server ERP44_000053 3/12996 0/8592 3/4404
1 c.171-44A>G r.(=) p.(=) g.102814858T>C Copied from the Exome Variant Server ERP44_000052 1/13006 1/8600 0/4406
1 c.171-23T>A r.(=) p.(=) g.102814837A>T Copied from the Exome Variant Server ERP44_000051 1/13006 1/8600 0/4406
1 c.209A>G r.(?) p.(Glu70Gly) g.102814776T>C Copied from the Exome Variant Server ERP44_000049 1/13006 1/8600 0/4406
1 c.286+43C>T r.(=) p.(=) g.102814656G>A Copied from the Exome Variant Server ERP44_000047 1/13006 1/8600 0/4406
1 c.287-37A>G r.(=) p.(=) g.102784545T>C Copied from the Exome Variant Server ERP44_000045 3/13006 3/8600 0/4406
1 c.332A>G r.(?) p.(Lys111Arg) g.102784463T>C Copied from the Exome Variant Server ERP44_000042 1/13006 0/8600 1/4406
1 c.461C>T r.(?) p.(Thr154Ile) g.102784334G>A Copied from the Exome Variant Server ERP44_000040 1/13006 0/8600 1/4406
1 c.471+30_471+33del r.(=) p.(=) g.102784291_102784294del Copied from the Exome Variant Server ERP44_000038 2/12518 2/8254 0/4264
1 c.471+52C>T r.(=) p.(=) g.102784272G>A Copied from the Exome Variant Server ERP44_000037 1/5734 1/3982 0/1752
1 c.472-37G>C r.(=) p.(=) g.102783050C>G Copied from the Exome Variant Server ERP44_000035 1/13002 0/8598 1/4404
1 c.472-29G>A r.(=) p.(=) g.102783042C>T Copied from the Exome Variant Server ERP44_000033 246/13004 1/8600 245/4404
1 c.472-12T>C r.(=) p.(=) g.102783025A>G Copied from the Exome Variant Server ERP44_000031 1/13006 0/8600 1/4406
1 c.472-10T>C r.(=) p.(=) g.102783023A>G Copied from the Exome Variant Server ERP44_000029 294/13006 267/8600 27/4406
1 c.473G>A r.(?) p.(Arg158His) g.102783012C>T Copied from the Exome Variant Server ERP44_000027 1/13006 1/8600 0/4406
1 c.479A>G r.(?) p.(Lys160Arg) g.102783006T>C Copied from the Exome Variant Server ERP44_000025 1/13004 0/8600 1/4404
1 c.526A>C r.(=) p.(=) g.102782959T>G Copied from the Exome Variant Server ERP44_000023 2/13006 0/8600 2/4406
1 c.528A>G r.(=) p.(=) g.102782957T>C Copied from the Exome Variant Server ERP44_000021 1/13006 0/8600 1/4406
1 c.539G>A r.(?) p.(Arg180Gln) g.102782946C>T Copied from the Exome Variant Server ERP44_000050 1/13006 0/8600 1/4406
1 c.548A>G r.(?) p.(Asn183Ser) g.102782937T>C Copied from the Exome Variant Server ERP44_000048 1/13006 1/8600 0/4406
1 c.587+41C>G r.(=) p.(=) g.102782857G>C Copied from the Exome Variant Server ERP44_000046 1/13006 1/8600 0/4406
1 c.587+47T>C r.(=) p.(=) g.102782851A>G Copied from the Exome Variant Server ERP44_000044 1/13006 0/8600 1/4406
1 c.588-61G>A r.(=) p.(=) g.102780656C>T Copied from the Exome Variant Server ERP44_000043 43/4562 1/3178 42/1384
1 c.588-62_588-55del r.(=) p.(=) g.102780650_102780657del Copied from the Exome Variant Server ERP44_000041 122/12514 109/8250 13/4264
1 c.588-28G>A r.(=) p.(=) g.102780623C>T Copied from the Exome Variant Server ERP44_000039 2/13000 2/8594 0/4406
1 c.602C>T r.(?) p.(Pro201Leu) g.102780581G>A Copied from the Exome Variant Server ERP44_000036 3/13006 0/8600 3/4406
1 c.603G>A r.(=) p.(=) g.102780580C>T Copied from the Exome Variant Server ERP44_000034 5/13006 1/8600 4/4406
1 c.635A>G r.(?) p.(Lys212Arg) g.102780548T>C Copied from the Exome Variant Server ERP44_000032 1/13006 0/8600 1/4406
1 c.645+18A>G r.(=) p.(=) g.102780520T>C Copied from the Exome Variant Server ERP44_000030 1/13000 0/8594 1/4406
1 c.645+29A>G r.(=) p.(=) g.102780509T>C Copied from the Exome Variant Server ERP44_000028 8/13000 6/8594 2/4406
1 c.646-15_646-14insT r.(=) p.(=) g.102778734_102778735insA Copied from the Exome Variant Server ERP44_000026 166/12506 109/8248 57/4258
1 c.682A>G r.(?) p.(Thr228Ala) g.102778684T>C Copied from the Exome Variant Server ERP44_000024 1/13006 1/8600 0/4406
1 c.690T>G r.(?) p.(Phe230Leu) g.102778676A>C Copied from the Exome Variant Server ERP44_000022 34/13006 30/8600 4/4406
1 c.736C>T r.(?) p.(Arg246*) g.102778630G>A Copied from the Exome Variant Server ERP44_000020 1/13006 1/8600 0/4406
1 c.763-38G>A r.(=) p.(=) g.102770009C>T Copied from the Exome Variant Server ERP44_000018 1/12998 1/8596 0/4402
1 c.816T>C r.(=) p.(=) g.102769918A>G Copied from the Exome Variant Server ERP44_000016 2/13004 0/8600 2/4404
1 c.874+35T>A r.(=) p.(=) g.102769825A>T Copied from the Exome Variant Server ERP44_000014 1/12998 0/8596 1/4402
1 c.874+43T>A r.(=) p.(=) g.102769817A>T Copied from the Exome Variant Server ERP44_000012 30/12996 0/8594 30/4402
1 c.875-43A>G r.(=) p.(=) g.102768972T>C Copied from the Exome Variant Server ERP44_000010 2/12934 2/8576 0/4358
1 c.875-36T>C r.(=) p.(=) g.102768965A>G Copied from the Exome Variant Server ERP44_000008 1/12950 1/8576 0/4374
1 c.934C>G r.(?) p.(Gln312Glu) g.102768870G>C Copied from the Exome Variant Server ERP44_000006 1/13006 1/8600 0/4406
1 c.943C>T r.(?) p.(Pro315Ser) g.102768861G>A Copied from the Exome Variant Server ERP44_000004 1/13006 1/8600 0/4406
1 c.1017-46A>T r.(=) p.(=) g.102747397T>A Copied from the Exome Variant Server ERP44_000002 8/13000 0/8596 8/4404
1 c.1017-32_1017-25del r.(=) p.(=) g.102747376_102747383del Copied from the Exome Variant Server ERP44_000019 3/12518 0/8254 3/4264
1 c.1017-12C>T r.(=) p.(=) g.102747363G>A Copied from the Exome Variant Server ERP44_000017 50/13006 0/8600 50/4406
1 c.1034A>G r.(?) p.(Lys345Arg) g.102747334T>C Copied from the Exome Variant Server ERP44_000015 1/13006 1/8600 0/4406
1 c.1119+27A>G r.(=) p.(=) g.102747222T>C Copied from the Exome Variant Server ERP44_000013 1/13006 1/8600 0/4406
1 c.1215G>A r.(=) p.(=) g.102744900C>T Copied from the Exome Variant Server ERP44_000011 6/13006 6/8600 0/4406
1 c.*17T>C r.(=) p.(=) g.102744877A>G Copied from the Exome Variant Server ERP44_000009 1/13006 0/8600 1/4406
1 c.*20T>C r.(=) p.(=) g.102744874A>G Copied from the Exome Variant Server ERP44_000007 1/13006 0/8600 1/4406
1 c.*44C>A r.(=) p.(=) g.102744850G>T Copied from the Exome Variant Server ERP44_000005 1/13006 0/8600 1/4406
1 c.*48C>T r.(=) p.(=) g.102744846G>A Copied from the Exome Variant Server ERP44_000003 3/13006 0/8600 3/4406
1 c.*49G>A r.(=) p.(=) g.102744845C>T Copied from the Exome Variant Server ERP44_000001 16/13006 15/8600 1/4406
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