All transcript variants in gene EDNRB

Information The variants shown are described using the NM_000115.3 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-51-953G>T r.(=) p.(=) g.78493712C>A Copied from the Exome Variant Server EDNRB_000081 41/5734 0/3982 41/1752
?/? c.-51-946C>A r.(=) p.(=) g.78493705G>T Copied from the Exome Variant Server EDNRB_000080 1/5734 1/3982 0/1752
?/? c.-51-831G>A r.(=) p.(=) g.78493590C>T Copied from the Exome Variant Server EDNRB_000079 1/5734 0/3982 1/1752
?/? c.-51-747T>C r.(=) p.(=) g.78493506A>G Copied from the Exome Variant Server EDNRB_000078 4/5734 4/3982 0/1752
?/? c.13C>A r.(?) p.(Pro5Thr) g.78492696G>T Copied from the Exome Variant Server EDNRB_000077 3/13006 0/8600 3/4406
?/? c.30C>A r.(=) p.(=) g.78492679G>T Copied from the Exome Variant Server EDNRB_000076 1/13006 1/8600 0/4406
?/? c.49C>T r.(?) p.(Leu17Phe) g.78492660G>A Copied from the Exome Variant Server EDNRB_000075 77/13006 1/8600 76/4406
?/? c.96G>A r.(=) p.(=) g.78492613C>T Copied from the Exome Variant Server EDNRB_000074 1/13006 1/8600 0/4406
?/? c.102C>G r.(?) p.(Asp34Glu) g.78492607G>C Copied from the Exome Variant Server EDNRB_000073 3/13006 0/8600 3/4406
?/? c.155C>T r.(?) p.(Thr52Ile) g.78492554G>A Copied from the Exome Variant Server EDNRB_000072 1/13006 1/8600 0/4406
?/? c.169G>A r.(?) p.(Gly57Ser) g.78492540C>T Copied from the Exome Variant Server EDNRB_000071 86/13006 76/8600 10/4406
?/? c.178G>A r.(?) p.(Ala60Thr) g.78492531C>T Copied from the Exome Variant Server EDNRB_000070 2/13006 0/8600 2/4406
?/? c.190C>T r.(?) p.(Arg64Trp) g.78492519G>A Copied from the Exome Variant Server EDNRB_000069 1/13006 1/8600 0/4406
?/? c.214C>T r.(?) p.(Pro72Ser) g.78492495G>A Copied from the Exome Variant Server EDNRB_000068 1/13006 0/8600 1/4406
?/? c.227G>T r.(?) p.(Arg76Met) g.78492482C>A Copied from the Exome Variant Server EDNRB_000067 4/13006 0/8600 4/4406
?/? c.275G>A r.(?) p.(Gly92Glu) g.78492434C>T Copied from the Exome Variant Server EDNRB_000066 1/13006 0/8600 1/4406
?/? c.314C>T r.(?) p.(Thr105Met) g.78492395G>A Copied from the Exome Variant Server EDNRB_000065 2/13006 0/8600 2/4406
?/? c.387C>A r.(?) p.(Asn129Lys) g.78492322G>T Copied from the Exome Variant Server EDNRB_000064 1/13006 1/8600 0/4406
?/? c.415T>G r.(?) p.(Leu139Val) g.78492294A>C Copied from the Exome Variant Server EDNRB_000063 1/13006 1/8600 0/4406
?/? c.417G>T r.(?) p.(Leu139Phe) g.78492292C>A Copied from the Exome Variant Server EDNRB_000062 1/13006 0/8600 1/4406
?/? c.469A>G r.(?) p.(Ile157Val) g.78492240T>C Copied from the Exome Variant Server EDNRB_000061 1/13006 1/8600 0/4406
?/? c.483+31C>T r.(=) p.(=) g.78492195G>A Copied from the Exome Variant Server EDNRB_000060 1/13006 1/8600 0/4406
?/? c.483+33T>G r.(=) p.(=) g.78492193A>C Copied from the Exome Variant Server EDNRB_000059 14/13006 0/8600 14/4406
?/? c.483+45C>T r.(=) p.(=) g.78492181G>A Copied from the Exome Variant Server EDNRB_000058 5/13006 5/8600 0/4406
?/? c.484-51G>A r.(=) p.(=) g.78477793C>T Copied from the Exome Variant Server EDNRB_000057 77/13006 0/8600 77/4406
?/? c.484-21C>T r.(=) p.(=) g.78477763G>A Copied from the Exome Variant Server EDNRB_000056 2/13006 2/8600 0/4406
?/? c.484-18C>T r.(=) p.(=) g.78477760G>A Copied from the Exome Variant Server EDNRB_000055 1/13006 0/8600 1/4406
?/? c.484-17G>A r.(=) p.(=) g.78477759C>T Copied from the Exome Variant Server EDNRB_000054 1/13006 0/8600 1/4406
?/? c.526C>G r.(?) p.(Leu176Val) g.78477700G>C Copied from the Exome Variant Server EDNRB_000053 2/13006 1/8600 1/4406
?/? c.552T>C N/A N/A g.78477674A>G Copied from the Exome Variant Server EDNRB_000052 12810/13006 8598/8600 4212/4406
?/? c.561C>T r.(=) p.(=) g.78477665G>A Copied from the Exome Variant Server EDNRB_000051 172/13006 44/8600 128/4406
?/? c.596+19T>A r.(=) p.(=) g.78477611A>T Copied from the Exome Variant Server EDNRB_000050 2/13006 0/8600 2/4406
?/? c.597-48A>G r.(=) p.(=) g.78477543T>C Copied from the Exome Variant Server EDNRB_000049 1/12992 1/8590 0/4402
?/? c.597-36T>C r.(=) p.(=) g.78477531A>G Copied from the Exome Variant Server EDNRB_000048 2/13000 0/8594 2/4406
?/? c.597-28T>G r.(=) p.(=) g.78477523A>C Copied from the Exome Variant Server EDNRB_000047 2/13000 0/8594 2/4406
?/? c.601C>T r.(?) p.(Arg201*) g.78477491G>A Copied from the Exome Variant Server EDNRB_000046 1/13006 1/8600 0/4406
?/? c.731C>T r.(?) p.(Thr244Met) g.78477361G>A Copied from the Exome Variant Server EDNRB_000045 57/13006 2/8600 55/4406
?/? c.732G>A r.(=) p.(=) g.78477360C>T Copied from the Exome Variant Server EDNRB_000044 1/13006 1/8600 0/4406
?/? c.737A>G r.(?) p.(Asp246Gly) g.78477355T>C Copied from the Exome Variant Server EDNRB_000043 1/13006 1/8600 0/4406
?/? c.740A>G r.(?) p.(Tyr247Cys) g.78477352T>C Copied from the Exome Variant Server EDNRB_000042 1/13006 1/8600 0/4406
?/? c.757C>A r.(=) p.(=) g.78477335G>T Copied from the Exome Variant Server EDNRB_000041 1/13006 1/8600 0/4406
?/? c.758G>A r.(?) p.(Arg253Gln) g.78477334C>T Copied from the Exome Variant Server EDNRB_000040 1/13006 1/8600 0/4406
?/? c.761T>C r.(?) p.(Ile254Thr) g.78477331A>G Copied from the Exome Variant Server EDNRB_000039 1/13006 0/8600 1/4406
?/? c.772C>G r.(?) p.(His258Asp) g.78477320G>C Copied from the Exome Variant Server EDNRB_000038 1/13006 1/8600 0/4406
?/? c.777C>T r.(=) p.(=) g.78477315G>A Copied from the Exome Variant Server EDNRB_000037 1/13006 1/8600 0/4406
?/? c.778G>T r.(?) p.(Val260Phe) g.78477314C>A Copied from the Exome Variant Server EDNRB_000036 19/13006 19/8600 0/4406
?/? c.801+20T>A r.(=) p.(=) g.78477271A>T Copied from the Exome Variant Server EDNRB_000035 1/13006 0/8600 1/4406
?/? c.801+29C>A r.(=) p.(=) g.78477262G>T Copied from the Exome Variant Server EDNRB_000034 2/13006 0/8600 2/4406
?/? c.802-24G>A r.(=) p.(=) g.78475366C>T Copied from the Exome Variant Server EDNRB_000033 5/12998 0/8596 5/4402
?/? c.821A>T r.(?) p.(Asp274Val) g.78475323T>A Copied from the Exome Variant Server EDNRB_000032 1/13004 0/8598 1/4406
?/? c.828G>T r.(?) p.(Trp276Cys) g.78475316C>A Copied from the Exome Variant Server EDNRB_000031 1/13004 1/8598 0/4406
?/? c.831A>G r.(=) p.(=) g.78475313T>C Copied from the Exome Variant Server EDNRB_000030 7769/13004 5279/8598 2490/4406
?/? c.879T>C r.(=) p.(=) g.78475265A>G Copied from the Exome Variant Server EDNRB_000029 1/13006 1/8600 0/4406
?/? c.911A>T r.(?) p.(Lys304Ile) g.78475233T>A Copied from the Exome Variant Server EDNRB_000028 1/13006 1/8600 0/4406
?/? c.914G>A r.(?) p.(Ser305Asn) g.78475230C>T Copied from the Exome Variant Server EDNRB_000027 128/13006 119/8600 9/4406
?/? c.918C>T r.(=) p.(=) g.78475226G>A Copied from the Exome Variant Server EDNRB_000026 1/13006 1/8600 0/4406
?/? c.952-39G>A r.(=) p.(=) g.78474828C>T Copied from the Exome Variant Server EDNRB_000025 1/13006 0/8600 1/4406
?/? c.952-14T>C r.(=) p.(=) g.78474803A>G Copied from the Exome Variant Server EDNRB_000024 3/13006 3/8600 0/4406
?/? c.952-11A>T r.(=) p.(=) g.78474800T>A Copied from the Exome Variant Server EDNRB_000023 1/13006 1/8600 0/4406
?/? c.972C>T r.(=) p.(=) g.78474769G>A Copied from the Exome Variant Server EDNRB_000022 1/13006 1/8600 0/4406
?/? c.1085+30T>C r.(=) p.(=) g.78474626A>G Copied from the Exome Variant Server EDNRB_000021 1/13006 1/8600 0/4406
?/? c.1085+32A>G r.(=) p.(=) g.78474624T>C Copied from the Exome Variant Server EDNRB_000020 1/13006 1/8600 0/4406
?/? c.1085+40C>T r.(=) p.(=) g.78474616G>A Copied from the Exome Variant Server EDNRB_000019 1/13006 0/8600 1/4406
?/? c.1085+42A>C r.(=) p.(=) g.78474614T>G Copied from the Exome Variant Server EDNRB_000018 2/13006 1/8600 1/4406
?/? c.1086-41T>C r.(=) p.(=) g.78474143A>G Copied from the Exome Variant Server EDNRB_000017 1/13000 1/8594 0/4406
?/? c.1086-25C>T r.(=) p.(=) g.78474127G>A Copied from the Exome Variant Server EDNRB_000016 1/13004 0/8598 1/4406
?/? c.1194+26G>A r.(=) p.(=) g.78473968C>T Copied from the Exome Variant Server EDNRB_000015 5/13002 5/8596 0/4406
?/? c.1195-52T>C r.(=) p.(=) g.78472521A>G Copied from the Exome Variant Server EDNRB_000014 1/7268 1/4616 0/2652
?/? c.1195-41_1195-33del r.(=) p.(=) g.78472502_78472510del Copied from the Exome Variant Server EDNRB_000013 1/12516 1/8252 0/4264
?/? c.1239C>G r.(=) p.(=) g.78472425G>C Copied from the Exome Variant Server EDNRB_000012 28/13006 27/8600 1/4406
?/? c.1256C>T r.(?) p.(Ser419Leu) g.78472408G>A Copied from the Exome Variant Server EDNRB_000011 1/13006 1/8600 0/4406
?/? c.1285G>A r.(?) p.(Gly429Arg) g.78472379C>T Copied from the Exome Variant Server EDNRB_000010 4/13006 1/8600 3/4406
?/? c.*5A>G r.(=) p.(=) g.78472330T>C Copied from the Exome Variant Server EDNRB_000009 1/13004 0/8600 1/4404
?/? c.*1595C>T r.(=) p.(=) g.78470740G>A Copied from the Exome Variant Server EDNRB_000008 2/11036 1/7624 1/3412
?/? c.*1651C>T r.(=) p.(=) g.78470684G>A Copied from the Exome Variant Server EDNRB_000007 1/11698 1/8088 0/3610
?/? c.*1662T>C r.(=) p.(=) g.78470673A>G Copied from the Exome Variant Server EDNRB_000006 6/11720 6/8100 0/3620
?/? c.*1668A>G r.(=) p.(=) g.78470667T>C Copied from the Exome Variant Server EDNRB_000005 2/11738 0/8120 2/3618
?/? c.*1700A>G r.(=) p.(=) g.78470635T>C Copied from the Exome Variant Server EDNRB_000004 2/11780 0/8148 2/3632
?/? c.*1703G>A r.(=) p.(=) g.78470632C>T Copied from the Exome Variant Server EDNRB_000003 1/11782 0/8148 1/3634
?/? c.*1767C>T r.(=) p.(=) g.78470568G>A Copied from the Exome Variant Server EDNRB_000002 106/11692 101/8104 5/3588
?/? c.*1770T>C r.(=) p.(=) g.78470565A>G Copied from the Exome Variant Server EDNRB_000001 1/11676 1/8094 0/3582
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