Full data view for gene RENBP

Information The variants shown are described using the NM_002910.5 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.28-49_28-48insT r.(=) p.(=) g.153209918_153209919insA Copied from the Exome Variant Server RENBP_000024 13/10200 0/6484 13/3716 - - - - - - -
?/? c.28-48_28-47insG r.(=) p.(=) g.153209917_153209918insC Copied from the Exome Variant Server RENBP_000023 412/10196 32/6481 380/3715 - - - - - - -
?/? c.28-48_28-47insGG r.(=) p.(=) g.153209917_153209918insCC Copied from the Exome Variant Server RENBP_000022 64/10196 1/6481 63/3715 - - - - - - -
?/? c.28-37A>G r.(=) p.(=) g.153209907T>C Copied from the Exome Variant Server RENBP_000021 1/10560 1/6728 0/3832 - - - - - - -
?/? c.29A>G r.(?) p.(Asp10Gly) g.153209869T>C Copied from the Exome Variant Server RENBP_000020 19/10562 19/6728 0/3834 - - - - - - -
?/? c.31A>G r.(?) p.(Met11Val) g.153209867T>C Copied from the Exome Variant Server RENBP_000019 1/10562 1/6728 0/3834 - - - - - - -
?/? c.93C>T r.(=) p.(=) g.153209805G>A Copied from the Exome Variant Server RENBP_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.97G>A r.(?) p.(Val33Met) g.153209801C>T Copied from the Exome Variant Server RENBP_000017 5/10563 0/6728 5/3835 - - - - - - -
?/? c.137+44T>G r.(=) p.(=) g.153209717A>C Copied from the Exome Variant Server RENBP_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.138-33G>A r.(=) p.(=) g.153209640C>T Copied from the Exome Variant Server RENBP_000015 4/10556 4/6724 0/3832 - - - - - - -
?/? c.161G>A r.(?) p.(Arg54His) g.153209584C>T Copied from the Exome Variant Server RENBP_000014 6/10562 0/6728 6/3834 - - - - - - -
?/? c.162C>T r.(=) p.(=) g.153209583G>A Copied from the Exome Variant Server RENBP_000013 3/10562 3/6728 0/3834 - - - - - - -
?/? c.176A>G r.(?) p.(Tyr59Cys) g.153209569T>C Copied from the Exome Variant Server RENBP_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.206G>A r.(?) p.(Gly69Glu) g.153209539C>T Copied from the Exome Variant Server RENBP_000011 1/10562 1/6727 0/3835 - - - - - - -
?/? c.213+8G>T r.(=) p.(=) g.153209524C>A Copied from the Exome Variant Server RENBP_000010 9/10562 0/6727 9/3835 - - - - - - -
?/? c.213+43G>A r.(=) p.(=) g.153209489C>T Copied from the Exome Variant Server RENBP_000009 1/10561 1/6726 0/3835 - - - - - - -
?/? c.214-36G>A r.(=) p.(=) g.153209458C>T Copied from the Exome Variant Server RENBP_000008 6/10558 6/6725 0/3833 - - - - - - -
?/? c.214-12C>T r.(=) p.(=) g.153209434G>A Copied from the Exome Variant Server RENBP_000007 1/10556 0/6725 1/3831 - - - - - - -
?/? c.214-5C>T r.spl? p.? g.153209427G>A Copied from the Exome Variant Server RENBP_000006 4/10553 4/6724 0/3829 - - - - - - -
?/? c.239G>A r.(?) p.(Arg80His) g.153209397C>T Copied from the Exome Variant Server RENBP_000005 1/10531 1/6710 0/3821 - - - - - - -
?/? c.246C>T r.(=) p.(=) g.153209390G>A Copied from the Exome Variant Server RENBP_000004 1/10528 1/6707 0/3821 - - - - - - -
?/? c.247G>A r.(?) p.(Glu83Lys) g.153209389C>T Copied from the Exome Variant Server RENBP_000003 1/10524 1/6706 0/3818 - - - - - - -
?/? c.257G>T r.(?) p.(Arg86Leu) g.153209379C>A Copied from the Exome Variant Server RENBP_000002 1/10515 1/6704 0/3811 - - - - - - -
?/? c.276C>T r.(=) p.(=) g.153209360G>A Copied from the Exome Variant Server RENBP_000001 1/10488 0/6688 1/3800 - - - - - - -
?/? c.290-43C>T r.(=) p.(=) g.153209213G>A Copied from the Exome Variant Server RENBP_000036 2/10558 2/6724 0/3834 - - - - - - -
?/? c.304C>T r.(=) p.(=) g.153209156G>A Copied from the Exome Variant Server RENBP_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.307C>A r.(=) p.(=) g.153209153G>T Copied from the Exome Variant Server RENBP_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.316C>T r.(?) p.(Arg106Trp) g.153209144G>A Copied from the Exome Variant Server RENBP_000033 2/10563 2/6728 0/3835 - - - - - - -
?/? c.359G>A r.(?) p.(Arg120Gln) g.153209101C>T Copied from the Exome Variant Server RENBP_000032 4/10563 1/6728 3/3835 - - - - - - -
?/? c.390C>T r.(=) p.(=) g.153209070G>A Copied from the Exome Variant Server RENBP_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.427G>A r.(?) p.(Glu143Lys) g.153209033C>T Copied from the Exome Variant Server RENBP_000030 1/10562 1/6727 0/3835 - - - - - - -
?/? c.430C>T r.(=) p.(=) g.153209030G>A Copied from the Exome Variant Server RENBP_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.455G>A r.(?) p.(Arg152Gln) g.153209005C>T Copied from the Exome Variant Server RENBP_000028 1/10562 1/6728 0/3834 - - - - - - -
?/? c.462+39C>A r.(=) p.(=) g.153208959G>T Copied from the Exome Variant Server RENBP_000027 1/10552 0/6721 1/3831 - - - - - - -
?/? c.506A>G r.(?) p.(Gln169Arg) g.153208488T>C Copied from the Exome Variant Server RENBP_000026 591/10543 1/6718 590/3825 - - - - - - -
?/? c.507G>A r.(=) p.(=) g.153208487C>T Copied from the Exome Variant Server RENBP_000025 3/10544 3/6718 0/3826 - - - - - - -
?/? c.513C>T r.(=) p.(=) g.153208481G>A Copied from the Exome Variant Server RENBP_000067 1/10544 1/6717 0/3827 - - - - - - -
?/? c.558G>A r.(=) p.(=) g.153208436C>T Copied from the Exome Variant Server RENBP_000066 1/10558 1/6725 0/3833 - - - - - - -
?/? c.592C>T r.(=) p.(=) g.153208402G>A Copied from the Exome Variant Server RENBP_000065 1/10562 1/6727 0/3835 - - - - - - -
?/? c.595G>A r.(?) p.(Val199Met) g.153208399C>T Copied from the Exome Variant Server RENBP_000064 1/10562 0/6727 1/3835 - - - - - - -
?/? c.629C>T r.(?) p.(Ala210Val) g.153208365G>A Copied from the Exome Variant Server RENBP_000063 213/10562 1/6727 212/3835 - - - - - - -
?/? c.661G>A r.(?) p.(Ala221Thr) g.153208333C>T Copied from the Exome Variant Server RENBP_000062 12/10560 2/6727 10/3833 - - - - - - -
?/? c.687+51C>G r.(=) p.(=) g.153208256G>C Copied from the Exome Variant Server RENBP_000061 1/10471 1/6670 0/3801 - - - - - - -
?/? c.688-61T>C r.(=) p.(=) g.153207545A>G Copied from the Exome Variant Server RENBP_000060 1288/3600 449/2391 839/1209 - - - - - - -
?/? c.688-50G>C r.(=) p.(=) g.153207534C>G Copied from the Exome Variant Server RENBP_000059 8/10561 7/6727 1/3834 - - - - - - -
?/? c.688-5G>A r.spl? p.? g.153207489C>T Copied from the Exome Variant Server RENBP_000058 1/10563 0/6728 1/3835 - - - - - - -
?/? c.769+9C>T r.(=) p.(=) g.153207394G>A Copied from the Exome Variant Server RENBP_000057 1/10562 1/6728 0/3834 - - - - - - -
?/? c.816G>T r.(=) p.(=) g.153207060C>A Copied from the Exome Variant Server RENBP_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.825C>T r.(=) p.(=) g.153207051G>A Copied from the Exome Variant Server RENBP_000055 2/10563 2/6728 0/3835 - - - - - - -
?/? c.829G>A r.(?) p.(Glu277Lys) g.153207047C>T Copied from the Exome Variant Server RENBP_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.839C>A r.(?) p.(Ala280Asp) g.153207037G>T Copied from the Exome Variant Server RENBP_000053 413/10563 216/6728 197/3835 - - - - - - -
?/? c.851A>G r.(?) p.(Asp284Gly) g.153207025T>C Copied from the Exome Variant Server RENBP_000052 525/10563 37/6728 488/3835 - - - - - - -
?/? c.894C>A r.(?) p.(Asp298Glu) g.153206982G>T Copied from the Exome Variant Server RENBP_000051 1/10563 0/6728 1/3835 - - - - - - -
?/? c.898G>A r.(?) p.(Gly300Arg) g.153206978C>T Copied from the Exome Variant Server RENBP_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.930C>G r.(?) p.(Asn310Lys) g.153206946G>C Copied from the Exome Variant Server RENBP_000049 98/10563 0/6728 98/3835 - - - - - - -
?/? c.945+29C>T r.(=) p.(=) g.153206902G>A Copied from the Exome Variant Server RENBP_000048 524/10563 36/6728 488/3835 - - - - - - -
?/? c.946-23G>T r.(=) p.(=) g.153205709C>A Copied from the Exome Variant Server RENBP_000047 15/10562 0/6728 15/3834 - - - - - - -
?/? c.986C>T r.(?) p.(Ala329Val) g.153205646G>A Copied from the Exome Variant Server RENBP_000046 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1057G>A r.(?) p.(Ala353Thr) g.153205575C>T Copied from the Exome Variant Server RENBP_000045 8/10563 8/6728 0/3835 - - - - - - -
?/? c.1073G>A r.(?) p.(Arg358His) g.153205559C>T Copied from the Exome Variant Server RENBP_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1077+38G>C r.(=) p.(=) g.153205517C>G Copied from the Exome Variant Server RENBP_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1077+48G>A r.(=) p.(=) g.153205507C>T Copied from the Exome Variant Server RENBP_000042 1/10562 1/6728 0/3834 - - - - - - -
?/? c.1078-10G>T r.(=) p.(=) g.153201039C>A Copied from the Exome Variant Server RENBP_000041 1/10560 0/6725 1/3835 - - - - - - -
?/? c.1083C>T r.(=) p.(=) g.153201024G>A Copied from the Exome Variant Server RENBP_000040 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1166-30C>A r.(=) p.(=) g.153200887G>T Copied from the Exome Variant Server RENBP_000039 2/10447 0/6664 2/3783 - - - - - - -
?/? c.1166-15C>T r.(=) p.(=) g.153200872G>A Copied from the Exome Variant Server RENBP_000038 17/10172 0/6484 17/3688 - - - - - - -
?/? c.1166-4G>A r.spl? p.? g.153200861C>T Copied from the Exome Variant Server RENBP_000037 1/9777 0/6252 1/3525 - - - - - - -
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