Full data view for gene UNC45B

Information The variants shown are described using the NM_173167.2 transcript reference sequence.

219 entries on 3 pages. Showing entries 1 - 100.
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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.-3-44G>T r.(=) p.(=) g.33475236G>T Copied from the Exome Variant Server UNC45B_000001 2/13006 2/8600 0/4406 - - - - - - -
?/? c.-3-34A>C r.(=) p.(=) g.33475246A>C Copied from the Exome Variant Server UNC45B_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-2A>G r.(=) p.(=) g.33475281A>G Copied from the Exome Variant Server UNC45B_000003 6/13006 0/8600 6/4406 - - - - - - -
?/? c.30G>A r.(=) p.(=) g.33475312G>A Copied from the Exome Variant Server UNC45B_000004 90/13006 0/8600 90/4406 - - - - - - -
?/? c.44G>A r.(?) p.(Arg15Gln) g.33475326G>A Copied from the Exome Variant Server UNC45B_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.51C>G r.(?) p.(Phe17Leu) g.33475333C>G Copied from the Exome Variant Server UNC45B_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.57del r.(?) p.(Gln20Argfs*14) g.33475339del Copied from the Exome Variant Server UNC45B_000007 45/12518 35/8254 10/4264 - - - - - - -
?/? c.97C>T r.(=) p.(=) g.33475379C>T Copied from the Exome Variant Server UNC45B_000008 5/13006 5/8600 0/4406 - - - - - - -
?/? c.139C>T r.(?) p.(Arg47Trp) g.33475421C>T Copied from the Exome Variant Server UNC45B_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.140G>A r.(?) p.(Arg47Gln) g.33475422G>A Copied from the Exome Variant Server UNC45B_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.144C>T r.(=) p.(=) g.33475426C>T Copied from the Exome Variant Server UNC45B_000011 261/13006 2/8600 259/4406 - - - - - - -
?/? c.155G>A r.(?) p.(Cys52Tyr) g.33475437G>A Copied from the Exome Variant Server UNC45B_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.168+18G>A r.(=) p.(=) g.33475468G>A Copied from the Exome Variant Server UNC45B_000013 1/13004 1/8598 0/4406 - - - - - - -
?/? c.169-29G>A r.(=) p.(=) g.33475963G>A Copied from the Exome Variant Server UNC45B_000014 2/13006 2/8600 0/4406 - - - - - - -
?/? c.177C>T r.(=) p.(=) g.33476000C>T Copied from the Exome Variant Server UNC45B_000015 2/13006 2/8600 0/4406 - - - - - - -
?/? c.178G>A r.(?) p.(Val60Ile) g.33476001G>A Copied from the Exome Variant Server UNC45B_000016 380/13006 328/8600 52/4406 - - - - - - -
?/? c.193G>C r.(?) p.(Asp65His) g.33476016G>C Copied from the Exome Variant Server UNC45B_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.205+12C>A r.(=) p.(=) g.33476040C>A Copied from the Exome Variant Server UNC45B_000018 8/13006 6/8600 2/4406 - - - - - - -
?/? c.205+41C>T r.(=) p.(=) g.33476069C>T Copied from the Exome Variant Server UNC45B_000019 3/13006 3/8600 0/4406 - - - - - - -
?/? c.205+51G>T r.(=) p.(=) g.33476079G>T Copied from the Exome Variant Server UNC45B_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.206-16C>T r.(=) p.(=) g.33477051C>T Copied from the Exome Variant Server UNC45B_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.206-15G>A r.(=) p.(=) g.33477052G>A Copied from the Exome Variant Server UNC45B_000022 5/13006 5/8600 0/4406 - - - - - - -
?/? c.206-3T>C r.spl? p.? g.33477064T>C Copied from the Exome Variant Server UNC45B_000023 6/13006 0/8600 6/4406 - - - - - - -
?/? c.235G>T r.(?) p.(Ala79Ser) g.33477096G>T Copied from the Exome Variant Server UNC45B_000024 4/13006 4/8600 0/4406 - - - - - - -
?/? c.247C>T r.(?) p.(Arg83*) g.33477108C>T Copied from the Exome Variant Server UNC45B_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.251G>T r.(?) p.(Cys84Phe) g.33477112G>T Copied from the Exome Variant Server UNC45B_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.278T>C r.(?) p.(Leu93Pro) g.33477139T>C Copied from the Exome Variant Server UNC45B_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.298G>A r.(?) p.(Val100Met) g.33477159G>A Copied from the Exome Variant Server UNC45B_000028 3/13006 3/8600 0/4406 - - - - - - -
?/? c.305G>A r.(?) p.(Arg102His) g.33477166G>A Copied from the Exome Variant Server UNC45B_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.318C>T r.(=) p.(=) g.33477179C>T Copied from the Exome Variant Server UNC45B_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.354G>T r.(?) p.(Arg118Ser) g.33477215G>T Copied from the Exome Variant Server UNC45B_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.381G>A r.(=) p.(=) g.33477242G>A Copied from the Exome Variant Server UNC45B_000032 872/13006 801/8600 71/4406 - - - - - - -
?/? c.381+17C>T r.(=) p.(=) g.33477259C>T Copied from the Exome Variant Server UNC45B_000033 17/13006 0/8600 17/4406 - - - - - - -
?/? c.381+51T>C r.(=) p.(=) g.33477293T>C Copied from the Exome Variant Server UNC45B_000034 1/13004 0/8598 1/4406 - - - - - - -
?/? c.382-45G>A r.(=) p.(=) g.33479867G>A Copied from the Exome Variant Server UNC45B_000035 457/13006 409/8600 48/4406 - - - - - - -
?/? c.382-35C>T r.(=) p.(=) g.33479877C>T Copied from the Exome Variant Server UNC45B_000036 3/13006 3/8600 0/4406 - - - - - - -
?/? c.382-20A>G r.(=) p.(=) g.33479892A>G Copied from the Exome Variant Server UNC45B_000037 2/13006 2/8600 0/4406 - - - - - - -
?/? c.382-19C>T r.(=) p.(=) g.33479893C>T Copied from the Exome Variant Server UNC45B_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.414A>G r.(=) p.(=) g.33479944A>G Copied from the Exome Variant Server UNC45B_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.464G>A r.(?) p.(Arg155Gln) g.33479994G>A Copied from the Exome Variant Server UNC45B_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.471+41G>A r.(=) p.(=) g.33480042G>A Copied from the Exome Variant Server UNC45B_000041 2/12972 2/8588 0/4384 - - - - - - -
?/? c.471+50G>A r.(=) p.(=) g.33480051G>A Copied from the Exome Variant Server UNC45B_000042 7/13002 6/8598 1/4404 - - - - - - -
?/? c.472-49T>C r.(=) p.(=) g.33481544T>C Copied from the Exome Variant Server UNC45B_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.472-43G>A r.(=) p.(=) g.33481550G>A Copied from the Exome Variant Server UNC45B_000044 69/13006 0/8600 69/4406 - - - - - - -
?/? c.493C>G r.(?) p.(Leu165Val) g.33481614C>G Copied from the Exome Variant Server UNC45B_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.499C>G r.(?) p.(Arg167Gly) g.33481620C>G Copied from the Exome Variant Server UNC45B_000046 2/13006 0/8600 2/4406 - - - - - - -
?/? c.500G>A r.(?) p.(Arg167His) g.33481621G>A Copied from the Exome Variant Server UNC45B_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.580G>A r.(?) p.(Glu194Lys) g.33481701G>A Copied from the Exome Variant Server UNC45B_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.596C>T r.(?) p.(Ala199Val) g.33481717C>T Copied from the Exome Variant Server UNC45B_000049 194/13006 1/8600 193/4406 - - - - - - -
?/? c.618G>A r.(?) p.(Met206Ile) g.33481739G>A Copied from the Exome Variant Server UNC45B_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.639+10C>T r.(=) p.(=) g.33481770C>T Copied from the Exome Variant Server UNC45B_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.639+34C>T r.(=) p.(=) g.33481794C>T Copied from the Exome Variant Server UNC45B_000052 31/13006 14/8600 17/4406 - - - - - - -
?/? c.640-15T>C r.(=) p.(=) g.33482300T>C Copied from the Exome Variant Server UNC45B_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.640-1G>A r.spl? p.? g.33482314G>A Copied from the Exome Variant Server UNC45B_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.650T>A r.(?) p.(Ile217Asn) g.33482325T>A Copied from the Exome Variant Server UNC45B_000055 7/13006 7/8600 0/4406 - - - - - - -
?/? c.664C>T r.(?) p.(Arg222Trp) g.33482339C>T Copied from the Exome Variant Server UNC45B_000056 2/13006 2/8600 0/4406 - - - - - - -
?/? c.686T>C r.(?) p.(Leu229Pro) g.33482361T>C Copied from the Exome Variant Server UNC45B_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.690G>A r.(?) p.(Met230Ile) g.33482365G>A Copied from the Exome Variant Server UNC45B_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.703_705del r.(?) p.(Glu236del) g.33482378_33482380del Copied from the Exome Variant Server UNC45B_000059 49/12518 31/8254 18/4264 - - - - - - -
?/? c.765G>A r.(=) p.(=) g.33482440G>A Copied from the Exome Variant Server UNC45B_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.775G>A r.(?) p.(Glu259Lys) g.33482450G>A Copied from the Exome Variant Server UNC45B_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.808+4G>C r.spl? p.? g.33482487G>C Copied from the Exome Variant Server UNC45B_000062 145/13006 4/8600 141/4406 - - - - - - -
?/? c.808+5_808+6insA r.spl? p.? g.33482488_33482489insA Copied from the Exome Variant Server UNC45B_000063 7/12518 0/8254 7/4264 - - - - - - -
?/? c.808+37G>C r.(=) p.(=) g.33482520G>C Copied from the Exome Variant Server UNC45B_000064 6/13006 0/8600 6/4406 - - - - - - -
?/? c.808+39G>A r.(=) p.(=) g.33482522G>A Copied from the Exome Variant Server UNC45B_000065 1986/13006 1031/8600 955/4406 - - - - - - -
?/? c.809-17G>A r.(=) p.(=) g.33486377G>A Copied from the Exome Variant Server UNC45B_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.823C>A r.(?) p.(Leu275Met) g.33486408C>A Copied from the Exome Variant Server UNC45B_000067 2/13006 2/8600 0/4406 - - - - - - -
?/? c.856C>G r.(?) p.(Leu286Val) g.33486441C>G Copied from the Exome Variant Server UNC45B_000068 2/13006 2/8600 0/4406 - - - - - - -
?/? c.897G>A r.(=) p.(=) g.33486482G>A Copied from the Exome Variant Server UNC45B_000069 3/13006 3/8600 0/4406 - - - - - - -
?/? c.977A>G r.(?) p.(Asn326Ser) g.33486562A>G Copied from the Exome Variant Server UNC45B_000070 20/13006 19/8600 1/4406 - - - - - - -
?/? c.979+37del r.(=) p.(=) g.33486601del Copied from the Exome Variant Server UNC45B_000071 87/12518 2/8254 85/4264 - - - - - - -
?/? c.980-40C>G r.(=) p.(=) g.33490974C>G Copied from the Exome Variant Server UNC45B_000072 3/13006 3/8600 0/4406 - - - - - - -
?/? c.980-23G>A r.(=) p.(=) g.33490991G>A Copied from the Exome Variant Server UNC45B_000073 1113/13006 1029/8600 84/4406 - - - - - - -
?/? c.980-21T>C r.(=) p.(=) g.33490993T>C Copied from the Exome Variant Server UNC45B_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1021C>T r.(=) p.(=) g.33491055C>T Copied from the Exome Variant Server UNC45B_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1035G>A r.(=) p.(=) g.33491069G>A Copied from the Exome Variant Server UNC45B_000076 81/13006 1/8600 80/4406 - - - - - - -
?/? c.1054C>T r.(?) p.(Arg352Cys) g.33491088C>T Copied from the Exome Variant Server UNC45B_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1086C>G r.(=) p.(=) g.33491120C>G Copied from the Exome Variant Server UNC45B_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1088A>G r.(?) p.(Tyr363Cys) g.33491122A>G Copied from the Exome Variant Server UNC45B_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1099C>T r.(?) p.(Arg367Cys) g.33491133C>T Copied from the Exome Variant Server UNC45B_000080 181/13006 3/8600 178/4406 - - - - - - -
?/? c.1110G>A r.(=) p.(=) g.33491144G>A Copied from the Exome Variant Server UNC45B_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1115G>A r.(?) p.(Arg372His) g.33491149G>A Copied from the Exome Variant Server UNC45B_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1116C>T r.(=) p.(=) g.33491150C>T Copied from the Exome Variant Server UNC45B_000083 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1117G>A r.(?) p.(Asp373Asn) g.33491151G>A Copied from the Exome Variant Server UNC45B_000084 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1122C>G r.(?) p.(His374Gln) g.33491156C>G Copied from the Exome Variant Server UNC45B_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1130A>G r.(?) p.(Lys377Arg) g.33491164A>G Copied from the Exome Variant Server UNC45B_000086 99/13006 92/8600 7/4406 - - - - - - -
?/? c.1140G>A r.(=) p.(=) g.33491174G>A Copied from the Exome Variant Server UNC45B_000087 23/13006 0/8600 23/4406 - - - - - - -
?/? c.1151+1G>A r.spl? p.? g.33491186G>A Copied from the Exome Variant Server UNC45B_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1151+18C>T r.(=) p.(=) g.33491203C>T Copied from the Exome Variant Server UNC45B_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1151+40T>C r.(=) p.(=) g.33491225T>C Copied from the Exome Variant Server UNC45B_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1151+49A>G r.(=) p.(=) g.33491234A>G Copied from the Exome Variant Server UNC45B_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1152-33A>G r.(=) p.(=) g.33495047A>G Copied from the Exome Variant Server UNC45B_000092 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1152-27C>G r.(=) p.(=) g.33495053C>G Copied from the Exome Variant Server UNC45B_000093 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1152-24G>A r.(=) p.(=) g.33495056G>A Copied from the Exome Variant Server UNC45B_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1153G>A r.(?) p.(Gly385Ser) g.33495081G>A Copied from the Exome Variant Server UNC45B_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1183A>G r.(?) p.(Asn395Asp) g.33495111A>G Copied from the Exome Variant Server UNC45B_000096 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1219C>G r.(?) p.(Gln407Glu) g.33495147C>G Copied from the Exome Variant Server UNC45B_000097 11/13006 0/8600 11/4406 - - - - - - -
?/? c.1303G>A r.(?) p.(Glu435Lys) g.33495231G>A Copied from the Exome Variant Server UNC45B_000098 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1307C>T r.(?) p.(Thr436Met) g.33495235C>T Copied from the Exome Variant Server UNC45B_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1324G>A r.(?) p.(Val442Met) g.33495252G>A Copied from the Exome Variant Server UNC45B_000100 9/13006 8/8600 1/4406 - - - - - - -
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