Unique variants in gene BCORL1

Information The variants shown are described using the NM_021946.4 transcript reference sequence.

180 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.-14G>A r.(=) p.(=) g.129139194G>A Copied from the Exome Variant Server BCORL1_000001 1/10563 1/6728 0/3835
1 c.13G>A r.(?) p.(Ala5Thr) g.129139220G>A Copied from the Exome Variant Server BCORL1_000002 1/10563 0/6728 1/3835
1 c.61C>T r.(?) p.(Arg21Cys) g.129139268C>T Copied from the Exome Variant Server BCORL1_000003 1/10563 1/6728 0/3835
1 c.78C>G r.(?) p.(Asn26Lys) g.129139285C>G Copied from the Exome Variant Server BCORL1_000004 1/10563 1/6728 0/3835
1 c.86+52G>A r.(=) p.(=) g.129139345G>A Copied from the Exome Variant Server BCORL1_000005 1/6038 1/3621 0/2417
1 c.87-36C>T r.(=) p.(=) g.129146518C>T Copied from the Exome Variant Server BCORL1_000006 1/10563 1/6728 0/3835
1 c.87-9del r.(=) p.(=) g.129146545del Copied from the Exome Variant Server BCORL1_000007 2/10205 1/6484 1/3721
1 c.177+22C>T r.(=) p.(=) g.129146666C>T Copied from the Exome Variant Server BCORL1_000008 1/10563 1/6728 0/3835
1 c.177+49A>G r.(=) p.(=) g.129146693A>G Copied from the Exome Variant Server BCORL1_000009 2/10563 2/6728 0/3835
1 c.178-45C>G r.(=) p.(=) g.129146881C>G Copied from the Exome Variant Server BCORL1_000010 1/10524 1/6699 0/3825
1 c.178-31C>A r.(=) p.(=) g.129146895C>A Copied from the Exome Variant Server BCORL1_000011 1/10531 1/6708 0/3823
1 c.197G>A r.(?) p.(Gly66Glu) g.129146945G>A Copied from the Exome Variant Server BCORL1_000012 1/10501 1/6686 0/3815
1 c.205_206insG r.(?) p.(Ser69Argfs*25) g.129146953_129146954insG Copied from the Exome Variant Server BCORL1_000013 148/10121 78/6427 70/3694
1 c.214C>T r.(?) p.(Arg72Trp) g.129146962C>T Copied from the Exome Variant Server BCORL1_000014 6/10526 5/6703 1/3823
1 c.270C>G r.(?) p.(Asp90Glu) g.129147018C>G Copied from the Exome Variant Server BCORL1_000015 2/10561 0/6726 2/3835
1 c.280G>A r.(?) p.(Asp94Asn) g.129147028G>A Copied from the Exome Variant Server BCORL1_000016 1/10561 1/6727 0/3834
1 c.301T>C r.(?) p.(Tyr101His) g.129147049T>C Copied from the Exome Variant Server BCORL1_000017 1/10559 0/6726 1/3833
1 c.303C>T r.(=) p.(=) g.129147051C>T Copied from the Exome Variant Server BCORL1_000018 1/10559 1/6726 0/3833
1 c.306T>A r.(=) p.(=) g.129147054T>A Copied from the Exome Variant Server BCORL1_000019 1/10561 0/6727 1/3834
1 c.313G>A r.(?) p.(Val105Met) g.129147061G>A Copied from the Exome Variant Server BCORL1_000020 1/10560 1/6727 0/3833
1 c.360C>T r.(=) p.(=) g.129147108C>T Copied from the Exome Variant Server BCORL1_000021 2/10562 2/6727 0/3835
1 c.388G>A r.(?) p.(Ala130Thr) g.129147136G>A Copied from the Exome Variant Server BCORL1_000022 4/10563 3/6728 1/3835
1 c.411C>T r.(=) p.(=) g.129147159C>T Copied from the Exome Variant Server BCORL1_000023 2/10562 2/6727 0/3835
1 c.434A>G r.(?) p.(Asn145Ser) g.129147182A>G Copied from the Exome Variant Server BCORL1_000024 1/10563 1/6728 0/3835
1 c.468C>T r.(=) p.(=) g.129147216C>T Copied from the Exome Variant Server BCORL1_000025 1/10563 1/6728 0/3835
1 c.469G>A r.(?) p.(Ala157Thr) g.129147217G>A Copied from the Exome Variant Server BCORL1_000026 1/10563 1/6728 0/3835
1 c.516T>C r.(=) p.(=) g.129147264T>C Copied from the Exome Variant Server BCORL1_000027 60/10563 56/6728 4/3835
1 c.583A>G r.(?) p.(Asn195Asp) g.129147331A>G Copied from the Exome Variant Server BCORL1_000028 2/10563 0/6728 2/3835
1 c.591T>C r.(=) p.(=) g.129147339T>C Copied from the Exome Variant Server BCORL1_000029 3/10563 0/6728 3/3835
1 c.616C>T r.(?) p.(Pro206Ser) g.129147364C>T Copied from the Exome Variant Server BCORL1_000030 1/10563 1/6728 0/3835
1 c.625G>A r.(?) p.(Gly209Ser) g.129147373G>A Copied from the Exome Variant Server BCORL1_000031 745/10563 691/6728 54/3835
1 c.767C>T r.(?) p.(Pro256Leu) g.129147515C>T Copied from the Exome Variant Server BCORL1_000032 1/10563 1/6728 0/3835
1 c.782C>T r.(?) p.(Ala261Val) g.129147530C>T Copied from the Exome Variant Server BCORL1_000033 1/10563 1/6728 0/3835
1 c.783G>A r.(=) p.(=) g.129147531G>A Copied from the Exome Variant Server BCORL1_000034 53/10563 47/6728 6/3835
1 c.819C>T r.(=) p.(=) g.129147567C>T Copied from the Exome Variant Server BCORL1_000035 1/10563 0/6728 1/3835
1 c.881C>T r.(?) p.(Pro294Leu) g.129147629C>T Copied from the Exome Variant Server BCORL1_000036 1/10563 1/6728 0/3835
1 c.882G>A r.(=) p.(=) g.129147630G>A Copied from the Exome Variant Server BCORL1_000037 5/10563 3/6728 2/3835
1 c.916T>G r.(?) p.(Ser306Ala) g.129147664T>G Copied from the Exome Variant Server BCORL1_000038 1/10563 0/6728 1/3835
1 c.985G>C r.(?) p.(Val329Leu) g.129147733G>C Copied from the Exome Variant Server BCORL1_000039 1/10466 1/6655 0/3811
1 c.996C>T r.(=) p.(=) g.129147744C>T Copied from the Exome Variant Server BCORL1_000040 1/10414 0/6625 1/3789
1 c.1161C>T r.(=) p.(=) g.129147909C>T Copied from the Exome Variant Server BCORL1_000041 1/10501 0/6685 1/3816
1 c.1216C>T r.(?) p.(Pro406Ser) g.129147964C>T Copied from the Exome Variant Server BCORL1_000042 1/10563 0/6728 1/3835
1 c.1282C>G r.(?) p.(Pro428Ala) g.129148030C>G Copied from the Exome Variant Server BCORL1_000043 1/10563 1/6728 0/3835
1 c.1338C>T r.(=) p.(=) g.129148086C>T Copied from the Exome Variant Server BCORL1_000044 1/10561 1/6726 0/3835
1 c.1419C>T r.(=) p.(=) g.129148167C>T Copied from the Exome Variant Server BCORL1_000045 2/10563 0/6728 2/3835
1 c.1446G>A r.(=) p.(=) g.129148194G>A Copied from the Exome Variant Server BCORL1_000046 133/10563 20/6728 113/3835
1 c.1509G>A r.(=) p.(=) g.129148257G>A Copied from the Exome Variant Server BCORL1_000047 1/10563 1/6728 0/3835
1 c.1623C>T r.(=) p.(=) g.129148371C>T Copied from the Exome Variant Server BCORL1_000048 1/10562 0/6728 1/3834
1 c.1659T>C r.(=) p.(=) g.129148407T>C Copied from the Exome Variant Server BCORL1_000049 215/10563 1/6728 214/3835
1 c.1699C>T r.(=) p.(=) g.129148447C>T Copied from the Exome Variant Server BCORL1_000050 167/10562 0/6727 167/3835
1 c.1707A>G r.(=) p.(=) g.129148455A>G Copied from the Exome Variant Server BCORL1_000051 56/10563 0/6728 56/3835
1 c.1845T>C r.(=) p.(=) g.129148593T>C Copied from the Exome Variant Server BCORL1_000052 1/10563 1/6728 0/3835
1 c.1847A>G r.(?) p.(Glu616Gly) g.129148595A>G Copied from the Exome Variant Server BCORL1_000053 1/10563 1/6728 0/3835
1 c.1863C>T r.(=) p.(=) g.129148611C>T Copied from the Exome Variant Server BCORL1_000054 1/10563 1/6728 0/3835
1 c.1889G>A r.(?) p.(Arg630His) g.129148637G>A Copied from the Exome Variant Server BCORL1_000055 1/10563 1/6728 0/3835
1 c.1947C>T r.(=) p.(=) g.129148695C>T Copied from the Exome Variant Server BCORL1_000056 3/10563 1/6728 2/3835
1 c.2000G>A r.(?) p.(Arg667His) g.129148748G>A Copied from the Exome Variant Server BCORL1_000057 1/10563 1/6728 0/3835
1 c.2016C>T r.(=) p.(=) g.129148764C>T Copied from the Exome Variant Server BCORL1_000058 1/10563 0/6728 1/3835
1 c.2025T>C r.(=) p.(=) g.129148773T>C Copied from the Exome Variant Server BCORL1_000059 10/10563 0/6728 10/3835
1 c.2054C>T r.(?) p.(Ser685Leu) g.129148802C>T Copied from the Exome Variant Server BCORL1_000060 1/10563 1/6728 0/3835
1 c.2055G>A r.(=) p.(=) g.129148803G>A Copied from the Exome Variant Server BCORL1_000061 5/10563 0/6728 5/3835
1 c.2064C>T r.(=) p.(=) g.129148812C>T Copied from the Exome Variant Server BCORL1_000062 23/10563 20/6728 3/3835
1 c.2073C>T r.(=) p.(=) g.129148821C>T Copied from the Exome Variant Server BCORL1_000063 1/10563 0/6728 1/3835
1 c.2079C>T r.(=) p.(=) g.129148827C>T Copied from the Exome Variant Server BCORL1_000064 4/10563 0/6728 4/3835
1 c.2099G>A r.(?) p.(Ser700Asn) g.129148847G>A Copied from the Exome Variant Server BCORL1_000065 1/10563 0/6728 1/3835
1 c.2157A>T r.(=) p.(=) g.129148905A>T Copied from the Exome Variant Server BCORL1_000066 1/10563 1/6728 0/3835
1 c.2227C>T r.(?) p.(Arg743Cys) g.129148975C>T Copied from the Exome Variant Server BCORL1_000067 1/10563 0/6728 1/3835
1 c.2336C>T r.(?) p.(Pro779Leu) g.129149084C>T Copied from the Exome Variant Server BCORL1_000068 1/10563 1/6728 0/3835
1 c.2361A>T r.(=) p.(=) g.129149109A>T Copied from the Exome Variant Server BCORL1_000069 1/10563 1/6728 0/3835
1 c.2365C>T r.(?) p.(Arg789Cys) g.129149113C>T Copied from the Exome Variant Server BCORL1_000070 1/10563 1/6728 0/3835
1 c.2410T>C r.(=) p.(=) g.129149158T>C Copied from the Exome Variant Server BCORL1_000071 1/10563 0/6728 1/3835
1 c.2423C>T r.(?) p.(Thr808Met) g.129149171C>T Copied from the Exome Variant Server BCORL1_000072 1/10563 1/6728 0/3835
1 c.2424G>A r.(=) p.(=) g.129149172G>A Copied from the Exome Variant Server BCORL1_000073 5/10563 1/6728 4/3835
1 c.2480A>G r.(?) p.(Gln827Arg) g.129149228A>G Copied from the Exome Variant Server BCORL1_000074 1/10556 0/6723 1/3833
1 c.2548G>A r.(?) p.(Gly850Arg) g.129149296G>A Copied from the Exome Variant Server BCORL1_000075 1/10555 1/6721 0/3834
1 c.2601G>A r.(=) p.(=) g.129149349G>A Copied from the Exome Variant Server BCORL1_000076 20/10562 0/6727 20/3835
1 c.2648G>A r.(?) p.(Gly883Glu) g.129149396G>A Copied from the Exome Variant Server BCORL1_000077 5/10563 5/6728 0/3835
1 c.2653C>T r.(?) p.(Pro885Ser) g.129149401C>T Copied from the Exome Variant Server BCORL1_000078 1/10563 1/6728 0/3835
1 c.2659G>A r.(?) p.(Gly887Arg) g.129149407G>A Copied from the Exome Variant Server BCORL1_000079 1/10563 1/6728 0/3835
1 c.2664A>G r.(=) p.(=) g.129149412A>G Copied from the Exome Variant Server BCORL1_000080 2/10563 2/6728 0/3835
1 c.2669G>A r.(?) p.(Arg890Gln) g.129149417G>A Copied from the Exome Variant Server BCORL1_000081 2/10563 2/6728 0/3835
1 c.2759A>G r.(?) p.(Asn920Ser) g.129149507A>G Copied from the Exome Variant Server BCORL1_000082 2/10563 1/6728 1/3835
1 c.2912C>G r.(?) p.(Ala971Gly) g.129149660C>G Copied from the Exome Variant Server BCORL1_000083 3/10563 3/6728 0/3835
1 c.2971A>T r.(?) p.(Met991Leu) g.129149719A>T Copied from the Exome Variant Server BCORL1_000084 6/10563 0/6728 6/3835
1 c.3081G>A r.(=) p.(=) g.129149829G>A Copied from the Exome Variant Server BCORL1_000085 3/10563 0/6728 3/3835
1 c.3095G>A r.(?) p.(Gly1032Asp) g.129149843G>A Copied from the Exome Variant Server BCORL1_000086 1/10563 1/6728 0/3835
1 c.3143G>A r.(?) p.(Arg1048Gln) g.129149891G>A Copied from the Exome Variant Server BCORL1_000087 4/10563 4/6728 0/3835
1 c.3158A>G r.(?) p.(Lys1053Arg) g.129149906A>G Copied from the Exome Variant Server BCORL1_000088 49/10563 47/6728 2/3835
1 c.3183T>C r.(=) p.(=) g.129149931T>C Copied from the Exome Variant Server BCORL1_000089 20/10563 0/6728 20/3835
1 c.3189C>T r.(=) p.(=) g.129149937C>T Copied from the Exome Variant Server BCORL1_000090 610/10563 5/6728 605/3835
1 c.3199C>T r.(?) p.(Arg1067Trp) g.129149947C>T Copied from the Exome Variant Server BCORL1_000091 2/10563 2/6728 0/3835
1 c.3259G>A r.(?) p.(Gly1087Arg) g.129150007G>A Copied from the Exome Variant Server BCORL1_000092 3/10563 0/6728 3/3835
1 c.3332C>T r.(?) p.(Thr1111Met) g.129150080C>T Copied from the Exome Variant Server BCORL1_000093 14/10563 13/6728 1/3835
1 c.3363C>T r.(=) p.(=) g.129150111C>T Copied from the Exome Variant Server BCORL1_000094 2/10563 0/6728 2/3835
1 c.3365G>C r.(?) p.(Gly1122Ala) g.129150113G>C Copied from the Exome Variant Server BCORL1_000095 1/10563 1/6728 0/3835
1 c.3367A>G r.(?) p.(Lys1123Glu) g.129150115A>G Copied from the Exome Variant Server BCORL1_000096 1/10563 1/6728 0/3835
1 c.3396C>G r.(=) p.(=) g.129150144C>G Copied from the Exome Variant Server BCORL1_000097 1097/10561 5/6727 1092/3834
1 c.3414C>T r.(=) p.(=) g.129150162C>T Copied from the Exome Variant Server BCORL1_000098 2/10561 2/6726 0/3835
1 c.3441+32C>T r.(=) p.(=) g.129150221C>T Copied from the Exome Variant Server BCORL1_000099 2/10476 2/6675 0/3801
1 c.3441+33G>A r.(=) p.(=) g.129150222G>A Copied from the Exome Variant Server BCORL1_000100 3/10469 0/6671 3/3798
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