Full data view for gene CYP8B1

Information The variants shown are described using the NM_004391.2 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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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.-32G>A r.(=) p.(=) g.42917340C>T Copied from the Exome Variant Server CYP8B1_000074 1/12600 1/8330 0/4270 - - - - - - -
?/? c.-15C>T r.(=) p.(=) g.42917323G>A Copied from the Exome Variant Server CYP8B1_000073 1/12810 0/8452 1/4358 - - - - - - -
?/? c.-14G>A r.(=) p.(=) g.42917322C>T Copied from the Exome Variant Server CYP8B1_000072 27/12840 1/8476 26/4364 - - - - - - -
?/? c.18A>G r.(=) p.(=) g.42917291T>C Copied from the Exome Variant Server CYP8B1_000071 2/12960 0/8572 2/4388 - - - - - - -
?/? c.76C>T r.(?) p.(Arg26*) g.42917233G>A Copied from the Exome Variant Server CYP8B1_000070 2/13006 0/8600 2/4406 - - - - - - -
?/? c.82C>T r.(?) p.(Arg28Cys) g.42917227G>A Copied from the Exome Variant Server CYP8B1_000069 1/13004 0/8600 1/4404 - - - - - - -
?/? c.83G>A r.(?) p.(Arg28His) g.42917226C>T Copied from the Exome Variant Server CYP8B1_000068 1/13004 1/8600 0/4404 - - - - - - -
?/? c.90A>G r.(=) p.(=) g.42917219T>C Copied from the Exome Variant Server CYP8B1_000067 1/13004 0/8600 1/4404 - - - - - - -
?/? c.139A>G r.(?) p.(Met47Val) g.42917170T>C Copied from the Exome Variant Server CYP8B1_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.148C>T r.(?) p.(Arg50Trp) g.42917161G>A Copied from the Exome Variant Server CYP8B1_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.149G>A r.(?) p.(Arg50Gln) g.42917160C>T Copied from the Exome Variant Server CYP8B1_000064 3/13006 1/8600 2/4406 - - - - - - -
?/? c.175C>T r.(?) p.(Arg59Cys) g.42917134G>A Copied from the Exome Variant Server CYP8B1_000063 2/13006 2/8600 0/4406 - - - - - - -
?/? c.201G>A r.(=) p.(=) g.42917108C>T Copied from the Exome Variant Server CYP8B1_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.237C>T r.(=) p.(=) g.42917072G>A Copied from the Exome Variant Server CYP8B1_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.238G>A r.(?) p.(Val80Ile) g.42917071C>T Copied from the Exome Variant Server CYP8B1_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.246C>T r.(=) p.(=) g.42917063G>A Copied from the Exome Variant Server CYP8B1_000059 2/13006 2/8600 0/4406 - - - - - - -
?/? c.262T>C r.(?) p.(Ser88Pro) g.42917047A>G Copied from the Exome Variant Server CYP8B1_000058 12794/13006 8595/8600 4199/4406 - - - - - - -
?/? c.280C>T r.(?) p.(Gln94*) g.42917029G>A Copied from the Exome Variant Server CYP8B1_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.318G>A r.(=) p.(=) g.42916991C>T Copied from the Exome Variant Server CYP8B1_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.386A>T r.(?) p.(Lys129Met) g.42916923T>A Copied from the Exome Variant Server CYP8B1_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.398G>C r.(?) p.(Gly133Ala) g.42916911C>G Copied from the Exome Variant Server CYP8B1_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.430C>T r.(=) p.(=) g.42916879G>A Copied from the Exome Variant Server CYP8B1_000053 18/13006 0/8600 18/4406 - - - - - - -
?/? c.434A>G r.(?) p.(Asp145Gly) g.42916875T>C Copied from the Exome Variant Server CYP8B1_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.474T>C r.(=) p.(=) g.42916835A>G Copied from the Exome Variant Server CYP8B1_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.512G>A r.(?) p.(Arg171His) g.42916797C>T Copied from the Exome Variant Server CYP8B1_000050 2/13006 2/8600 0/4406 - - - - - - -
?/? c.558C>A r.(?) p.(Phe186Leu) g.42916751G>T Copied from the Exome Variant Server CYP8B1_000049 3/13006 2/8600 1/4406 - - - - - - -
?/? c.559G>A r.(?) p.(Gly187Ser) g.42916750C>T Copied from the Exome Variant Server CYP8B1_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.583G>A r.(?) p.(Asp195Asn) g.42916726C>T Copied from the Exome Variant Server CYP8B1_000047 8/13006 7/8600 1/4406 - - - - - - -
?/? c.619C>T r.(?) p.(Arg207Cys) g.42916690G>A Copied from the Exome Variant Server CYP8B1_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.620G>A r.(?) p.(Arg207His) g.42916689C>T Copied from the Exome Variant Server CYP8B1_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.637T>C r.(?) p.(Phe213Leu) g.42916672A>G Copied from the Exome Variant Server CYP8B1_000044 2/13006 2/8600 0/4406 - - - - - - -
?/? c.699G>A r.(=) p.(=) g.42916610C>T Copied from the Exome Variant Server CYP8B1_000043 4/13002 3/8600 1/4402 - - - - - - -
?/? c.713A>G r.(?) p.(Lys238Arg) g.42916596T>C Copied from the Exome Variant Server CYP8B1_000042 312/13000 7/8596 305/4404 - - - - - - -
?/? c.723C>T r.(=) p.(=) g.42916586G>A Copied from the Exome Variant Server CYP8B1_000041 1/12998 1/8596 0/4402 - - - - - - -
?/? c.771C>T r.(=) p.(=) g.42916538G>A Copied from the Exome Variant Server CYP8B1_000040 1/12996 0/8594 1/4402 - - - - - - -
?/? c.779A>T r.(?) p.(Gln260Leu) g.42916530T>A Copied from the Exome Variant Server CYP8B1_000039 1/13004 0/8600 1/4404 - - - - - - -
?/? c.798G>T r.(=) p.(=) g.42916511C>A Copied from the Exome Variant Server CYP8B1_000038 354/13006 3/8600 351/4406 - - - - - - -
?/? c.860C>T r.(?) p.(Thr287Met) g.42916449G>A Copied from the Exome Variant Server CYP8B1_000037 2/13006 0/8600 2/4406 - - - - - - -
?/? c.861G>A r.(=) p.(=) g.42916448C>T Copied from the Exome Variant Server CYP8B1_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.901C>T r.(?) p.(His301Tyr) g.42916408G>A Copied from the Exome Variant Server CYP8B1_000035 4/13006 4/8600 0/4406 - - - - - - -
?/? c.917G>A r.(?) p.(Arg306Gln) g.42916392C>T Copied from the Exome Variant Server CYP8B1_000034 2/13006 1/8600 1/4406 - - - - - - -
?/? c.967A>T r.(?) p.(Thr323Ser) g.42916342T>A Copied from the Exome Variant Server CYP8B1_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.991C>A r.(?) p.(Leu331Ile) g.42916318G>T Copied from the Exome Variant Server CYP8B1_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1026C>A r.(?) p.(Ser342Arg) g.42916283G>T Copied from the Exome Variant Server CYP8B1_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1041G>C r.(=) p.(=) g.42916268C>G Copied from the Exome Variant Server CYP8B1_000026 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1069C>T r.(?) p.(Leu357Phe) g.42916240G>A Copied from the Exome Variant Server CYP8B1_000024 285/13006 1/8600 284/4406 - - - - - - -
?/? c.1071C>T r.(=) p.(=) g.42916238G>A Copied from the Exome Variant Server CYP8B1_000022 119/13006 0/8600 119/4406 - - - - - - -
?/? c.1157C>T r.(?) p.(Pro386Leu) g.42916152G>A Copied from the Exome Variant Server CYP8B1_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1193C>T r.(?) p.(Pro398Leu) g.42916116G>A Copied from the Exome Variant Server CYP8B1_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1204G>A r.(?) p.(Val402Ile) g.42916105C>T Copied from the Exome Variant Server CYP8B1_000033 89/13006 75/8600 14/4406 - - - - - - -
?/? c.1219C>G r.(?) p.(Arg407Gly) g.42916090G>C Copied from the Exome Variant Server CYP8B1_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1220G>A r.(?) p.(Arg407His) g.42916089C>T Copied from the Exome Variant Server CYP8B1_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1224C>T r.(=) p.(=) g.42916085G>A Copied from the Exome Variant Server CYP8B1_000027 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1245G>A r.(=) p.(=) g.42916064C>T Copied from the Exome Variant Server CYP8B1_000025 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1294C>T r.(?) p.(Pro432Ser) g.42916015G>A Copied from the Exome Variant Server CYP8B1_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1305G>C r.(=) p.(=) g.42916004C>G Copied from the Exome Variant Server CYP8B1_000021 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1308C>A r.(=) p.(=) g.42916001G>T Copied from the Exome Variant Server CYP8B1_000019 6/13006 6/8600 0/4406 - - - - - - -
?/? c.1309G>A r.(?) p.(Val437Ile) g.42916000C>T Copied from the Exome Variant Server CYP8B1_000017 11/13006 1/8600 10/4406 - - - - - - -
?/? c.1327A>G r.(?) p.(Arg443Gly) g.42915982T>C Copied from the Exome Variant Server CYP8B1_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1353G>A r.(=) p.(=) g.42915956C>T Copied from the Exome Variant Server CYP8B1_000015 30/13006 29/8600 1/4406 - - - - - - -
?/? c.1358T>G r.(?) p.(Phe453Cys) g.42915951A>C Copied from the Exome Variant Server CYP8B1_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1366C>T r.(?) p.(Leu456Phe) g.42915943G>A Copied from the Exome Variant Server CYP8B1_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1373T>G r.(?) p.(Val458Gly) g.42915936A>C Copied from the Exome Variant Server CYP8B1_000012 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1374C>T r.(=) p.(=) g.42915935G>A Copied from the Exome Variant Server CYP8B1_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1409C>T r.(?) p.(Thr470Ile) g.42915900G>A Copied from the Exome Variant Server CYP8B1_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1424T>G r.(?) p.(Val475Gly) g.42915885A>C Copied from the Exome Variant Server CYP8B1_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1431G>A r.(=) p.(=) g.42915878C>T Copied from the Exome Variant Server CYP8B1_000008 2223/13006 1479/8600 744/4406 - - - - - - -
?/? c.1461C>T r.(=) p.(=) g.42915848G>A Copied from the Exome Variant Server CYP8B1_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1464C>T r.(=) p.(=) g.42915845G>A Copied from the Exome Variant Server CYP8B1_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1468G>A r.(?) p.(Asp490Asn) g.42915841C>T Copied from the Exome Variant Server CYP8B1_000005 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1470T>A r.(?) p.(Asp490Glu) g.42915839A>T Copied from the Exome Variant Server CYP8B1_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1486C>T r.(?) p.(Arg496Cys) g.42915823G>A Copied from the Exome Variant Server CYP8B1_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1488C>A r.(=) p.(=) g.42915821G>T Copied from the Exome Variant Server CYP8B1_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1503G>A r.(=) p.(=) g.42915806C>T Copied from the Exome Variant Server CYP8B1_000001 2/13006 0/8600 2/4406 - - - - - - -
Legend