Unique variants in gene BLVRA

Information The variants shown are described using the NM_000712.3 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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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.-21-42A>G r.(=) p.(=) g.43810695A>G Copied from the Exome Variant Server BLVRA_000001 3171/4566 2215/3182 956/1384
1 c.-17C>T r.(=) p.(=) g.43810741C>T Copied from the Exome Variant Server BLVRA_000002 1/13006 1/8600 0/4406
1 c.7G>A r.(?) p.(Ala3Thr) g.43810764G>A Copied from the Exome Variant Server BLVRA_000003 10665/13006 6579/8600 4086/4406
1 c.12+22G>A r.(=) p.(=) g.43810791G>A Copied from the Exome Variant Server BLVRA_000004 13/13006 0/8600 13/4406
1 c.12+51C>T r.(=) p.(=) g.43810820C>T Copied from the Exome Variant Server BLVRA_000005 2084/13006 1802/8600 282/4406
1 c.13C>A r.(?) p.(Pro5Thr) g.43827503C>A Copied from the Exome Variant Server BLVRA_000006 10/13006 0/8600 10/4406
1 c.16G>A r.(?) p.(Glu6Lys) g.43827506G>A Copied from the Exome Variant Server BLVRA_000007 1/13006 0/8600 1/4406
1 c.57C>T r.(=) p.(=) g.43827547C>T Copied from the Exome Variant Server BLVRA_000008 1/13006 1/8600 0/4406
1 c.58G>A r.(?) p.(Gly20Ser) g.43827548G>A Copied from the Exome Variant Server BLVRA_000009 6/13006 0/8600 6/4406
1 c.63C>T r.(=) p.(=) g.43827553C>T Copied from the Exome Variant Server BLVRA_000010 2/13006 0/8600 2/4406
1 c.105G>A r.(=) p.(=) g.43827595G>A Copied from the Exome Variant Server BLVRA_000011 41/13006 37/8600 4/4406
1 c.127G>A r.(?) p.(Val43Met) g.43827617G>A Copied from the Exome Variant Server BLVRA_000012 1/13006 0/8600 1/4406
1 c.134+27T>C r.(=) p.(=) g.43827651T>C Copied from the Exome Variant Server BLVRA_000013 1/13006 1/8600 0/4406
1 c.134+29A>G r.(=) p.(=) g.43827653A>G Copied from the Exome Variant Server BLVRA_000014 18/13006 0/8600 18/4406
1 c.134+52G>A r.(=) p.(=) g.43827676G>A Copied from the Exome Variant Server BLVRA_000015 2/7272 0/4618 2/2654
1 c.135-40G>A r.(=) p.(=) g.43830808G>A Copied from the Exome Variant Server BLVRA_000016 1/13006 1/8600 0/4406
1 c.135-13T>C r.(=) p.(=) g.43830835T>C Copied from the Exome Variant Server BLVRA_000017 5/13006 0/8600 5/4406
1 c.154G>A r.(?) p.(Asp52Asn) g.43830867G>A Copied from the Exome Variant Server BLVRA_000018 10/13006 0/8600 10/4406
1 c.167A>G r.(?) p.(Gln56Arg) g.43830880A>G Copied from the Exome Variant Server BLVRA_000019 103/13006 93/8600 10/4406
1 c.175T>C r.(=) p.(=) g.43830888T>C Copied from the Exome Variant Server BLVRA_000020 1414/13006 953/8600 461/4406
1 c.177G>A r.(=) p.(=) g.43830890G>A Copied from the Exome Variant Server BLVRA_000021 1/13006 0/8600 1/4406
1 c.215A>G r.(?) p.(Tyr72Cys) g.43830928A>G Copied from the Exome Variant Server BLVRA_000022 3/13006 3/8600 0/4406
1 c.244G>A r.(?) p.(Asp82Asn) g.43830957G>A Copied from the Exome Variant Server BLVRA_000023 1/13006 1/8600 0/4406
1 c.246C>T r.(=) p.(=) g.43830959C>T Copied from the Exome Variant Server BLVRA_000025 20/13006 0/8600 20/4406
1 c.254+45G>A r.(=) p.(=) g.43831012G>A Copied from the Exome Variant Server BLVRA_000027 1/13006 0/8600 1/4406
1 c.255-39C>T r.(=) p.(=) g.43832275C>T Copied from the Exome Variant Server BLVRA_000024 1/13006 0/8600 1/4406
1 c.255-38G>A r.(=) p.(=) g.43832276G>A Copied from the Exome Variant Server BLVRA_000026 2/13006 2/8600 0/4406
1 c.255-12C>T r.(=) p.(=) g.43832302C>T Copied from the Exome Variant Server BLVRA_000028 1/13006 0/8600 1/4406
1 c.255-4A>G r.spl? p.? g.43832310A>G Copied from the Exome Variant Server BLVRA_000029 1/13006 0/8600 1/4406
1 c.258G>C r.(?) p.(Gln86His) g.43832317G>C Copied from the Exome Variant Server BLVRA_000030 1/13006 1/8600 0/4406
1 c.305T>C r.(?) p.(Leu102Pro) g.43832364T>C Copied from the Exome Variant Server BLVRA_000031 1/13006 1/8600 0/4406
1 c.311T>C r.(?) p.(Leu104Ser) g.43832370T>C Copied from the Exome Variant Server BLVRA_000032 5/13006 0/8600 5/4406
1 c.314C>T r.(?) p.(Ala105Val) g.43832373C>T Copied from the Exome Variant Server BLVRA_000033 35/13006 1/8600 34/4406
1 c.316G>C r.(?) p.(Ala106Pro) g.43832375G>C Copied from the Exome Variant Server BLVRA_000034 1/13006 1/8600 0/4406
1 c.352+6G>A r.(=) p.(=) g.43832417G>A Copied from the Exome Variant Server BLVRA_000035 1/13006 0/8600 1/4406
1 c.352+40T>G r.(=) p.(=) g.43832451T>G Copied from the Exome Variant Server BLVRA_000036 169/13006 1/8600 168/4406
1 c.353-48T>C r.(=) p.(=) g.43840016T>C Copied from the Exome Variant Server BLVRA_000037 1/13006 0/8600 1/4406
1 c.353-27C>A r.(=) p.(=) g.43840037C>A Copied from the Exome Variant Server BLVRA_000038 2/13006 2/8600 0/4406
1 c.353-4A>G r.spl? p.? g.43840060A>G Copied from the Exome Variant Server BLVRA_000039 5/13006 4/8600 1/4406
1 c.363G>A r.(=) p.(=) g.43840074G>A Copied from the Exome Variant Server BLVRA_000041 1/13006 1/8600 0/4406
1 c.400G>A r.(?) p.(Ala134Thr) g.43840111G>A Copied from the Exome Variant Server BLVRA_000043 12/13006 11/8600 1/4406
1 c.460+4A>C r.spl? p.? g.43840175A>C Copied from the Exome Variant Server BLVRA_000045 1/13006 1/8600 0/4406
1 c.460+12G>A r.(=) p.(=) g.43840183G>A Copied from the Exome Variant Server BLVRA_000047 178/13006 3/8600 175/4406
1 c.460+49C>T r.(=) p.(=) g.43840220C>T Copied from the Exome Variant Server BLVRA_000049 6/13006 6/8600 0/4406
1 c.468G>A r.(=) p.(=) g.43843282G>A Copied from the Exome Variant Server BLVRA_000050 1/13006 1/8600 0/4406
1 c.481C>T r.(?) p.(Arg161Trp) g.43843295C>T Copied from the Exome Variant Server BLVRA_000052 1/13006 1/8600 0/4406
1 c.482G>A r.(?) p.(Arg161Gln) g.43843296G>A Copied from the Exome Variant Server BLVRA_000054 4/13006 3/8600 1/4406
1 c.504C>T r.(=) p.(=) g.43843318C>T Copied from the Exome Variant Server BLVRA_000055 1/13006 1/8600 0/4406
1 c.534C>T r.(=) p.(=) g.43843348C>T Copied from the Exome Variant Server BLVRA_000058 1/13006 1/8600 0/4406
1 c.553C>T r.(?) p.(Leu185Phe) g.43843367C>T Copied from the Exome Variant Server BLVRA_000059 1/13006 0/8600 1/4406
1 c.586G>A r.(?) p.(Asp196Asn) g.43843400G>A Copied from the Exome Variant Server BLVRA_000040 1/13006 0/8600 1/4406
1 c.609G>A r.(=) p.(=) g.43843423G>A Copied from the Exome Variant Server BLVRA_000042 1190/13006 949/8600 241/4406
1 c.660A>G r.(=) p.(=) g.43846603A>G Copied from the Exome Variant Server BLVRA_000044 5583/13006 3253/8600 2330/4406
1 c.745A>C r.(?) p.(Asn249His) g.43846688A>C Copied from the Exome Variant Server BLVRA_000046 1/13006 1/8600 0/4406
1 c.756G>A r.(=) p.(=) g.43846699G>A Copied from the Exome Variant Server BLVRA_000048 1/13006 1/8600 0/4406
1 c.768T>C r.(=) p.(=) g.43846711T>C Copied from the Exome Variant Server BLVRA_000051 1/13006 1/8600 0/4406
1 c.794A>G r.(?) p.(Gln265Arg) g.43846737A>G Copied from the Exome Variant Server BLVRA_000053 1/13006 1/8600 0/4406
1 c.829C>T r.(?) p.(Arg277Cys) g.43846772C>T Copied from the Exome Variant Server BLVRA_000066 6/13006 3/8600 3/4406
1 c.869A>G r.(?) p.(Lys290Arg) g.43846812A>G Copied from the Exome Variant Server BLVRA_000056 1/13006 1/8600 0/4406
1 c.877T>C r.(?) p.(Cys293Arg) g.43846820T>C Copied from the Exome Variant Server BLVRA_000057 1/13006 0/8600 1/4406
1 c.881C>T r.(?) p.(Ser294Leu) g.43846824C>T Copied from the Exome Variant Server BLVRA_000060 2/13006 2/8600 0/4406
1 c.*9G>A r.(=) p.(=) g.43846843G>A Copied from the Exome Variant Server BLVRA_000061 1/13006 0/8600 1/4406
1 c.*10G>A r.(=) p.(=) g.43846844G>A Copied from the Exome Variant Server BLVRA_000062 10/13006 0/8600 10/4406
1 c.*21C>T r.(=) p.(=) g.43846855C>T Copied from the Exome Variant Server BLVRA_000063 2/13006 0/8600 2/4406
1 c.*24C>T r.(=) p.(=) g.43846858C>T Copied from the Exome Variant Server BLVRA_000064 1/13006 0/8600 1/4406
1 c.*39C>A r.(=) p.(=) g.43846873C>A Copied from the Exome Variant Server BLVRA_000065 1/13006 1/8600 0/4406
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