Full data view for gene ST3GAL5

Information The variants shown are described using the NM_001042437.1 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
Legend  

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.-68G>A r.(=) p.(=) g.86094808C>T Copied from the Exome Variant Server ST3GAL5_000068 1/4566 0/3182 1/1384 - - - - - - -
?/? c.-21T>C r.(=) p.(=) g.86094761A>G Copied from the Exome Variant Server ST3GAL5_000067 1/12512 0/8420 1/4092 - - - - - - -
?/? c.13+42G>A r.(=) p.(=) g.86094686C>T Copied from the Exome Variant Server ST3GAL5_000066 1931/12242 1638/8308 293/3934 - - - - - - -
?/? c.13+49T>A r.(=) p.(=) g.86094679A>T Copied from the Exome Variant Server ST3GAL5_000065 1/12188 0/8288 1/3900 - - - - - - -
?/? c.59C>G r.(?) p.(Ser20Trp) g.86090563G>C Copied from the Exome Variant Server ST3GAL5_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.86G>A r.(?) p.(Arg29Gln) g.86090536C>T Copied from the Exome Variant Server ST3GAL5_000063 13/13006 0/8600 13/4406 - - - - - - -
?/? c.137+9C>T r.(=) p.(=) g.86090476G>A Copied from the Exome Variant Server ST3GAL5_000062 7/13006 0/8600 7/4406 - - - - - - -
?/? c.137+10G>A r.(=) p.(=) g.86090475C>T Copied from the Exome Variant Server ST3GAL5_000061 2/13006 1/8600 1/4406 - - - - - - -
?/? c.137+19A>G r.(=) p.(=) g.86090466T>C Copied from the Exome Variant Server ST3GAL5_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.137+33T>G r.(=) p.(=) g.86090452A>C Copied from the Exome Variant Server ST3GAL5_000059 21/13006 0/8600 21/4406 - - - - - - -
?/? c.137+72G>A r.(=) p.(=) g.86090413C>T Copied from the Exome Variant Server ST3GAL5_000058 184/4566 3/3182 181/1384 - - - - - - -
?/? c.138-40C>A r.(=) p.(=) g.86088455G>T Copied from the Exome Variant Server ST3GAL5_000057 2/13006 2/8600 0/4406 - - - - - - -
?/? c.138-5del r.spl? p.? g.86088420del Copied from the Exome Variant Server ST3GAL5_000056 3/12514 2/8248 1/4266 - - - - - - -
?/? c.178C>T r.(?) p.(Leu60Phe) g.86088375G>A Copied from the Exome Variant Server ST3GAL5_000055 4/13006 0/8600 4/4406 - - - - - - -
?/? c.242A>G r.(?) p.(His81Arg) g.86088311T>C Copied from the Exome Variant Server ST3GAL5_000053 2039/13006 1705/8600 334/4406 - - - - - - -
?/? c.243T>G r.(?) p.(His81Gln) g.86088310A>C Copied from the Exome Variant Server ST3GAL5_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.249+6A>T r.(=) p.(=) g.86088298T>A Copied from the Exome Variant Server ST3GAL5_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.249+47T>C r.(=) p.(=) g.86088257A>G Copied from the Exome Variant Server ST3GAL5_000047 1/13002 1/8598 0/4404 - - - - - - -
?/? c.250-45T>C r.(=) p.(=) g.86075372A>G Copied from the Exome Variant Server ST3GAL5_000045 1/12802 0/8448 1/4354 - - - - - - -
?/? c.250-7A>T r.(=) p.(=) g.86075334T>A Copied from the Exome Variant Server ST3GAL5_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.264T>G r.(?) p.(Tyr88*) g.86075313A>C Copied from the Exome Variant Server ST3GAL5_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.287A>G r.(?) p.(Glu96Gly) g.86075290T>C Copied from the Exome Variant Server ST3GAL5_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.293G>A r.(?) p.(Arg98His) g.86075284C>T Copied from the Exome Variant Server ST3GAL5_000050 3/13006 1/8600 2/4406 - - - - - - -
?/? c.316A>G r.(?) p.(Met106Val) g.86075261T>C Copied from the Exome Variant Server ST3GAL5_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.320C>T r.(?) p.(Ala107Val) g.86075257G>A Copied from the Exome Variant Server ST3GAL5_000046 12/13006 11/8600 1/4406 - - - - - - -
?/? c.321G>A r.(=) p.(=) g.86075256C>T Copied from the Exome Variant Server ST3GAL5_000044 6/13006 6/8600 0/4406 - - - - - - -
?/? c.345C>T r.(=) p.(=) g.86075232G>A Copied from the Exome Variant Server ST3GAL5_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.346G>T r.(?) p.(Val116Leu) g.86075231C>A Copied from the Exome Variant Server ST3GAL5_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.405C>T r.(=) p.(=) g.86075172G>A Copied from the Exome Variant Server ST3GAL5_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.475G>A r.(?) p.(Asp159Asn) g.86075102C>T Copied from the Exome Variant Server ST3GAL5_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.477C>T r.(=) p.(=) g.86075100G>A Copied from the Exome Variant Server ST3GAL5_000038 2/13006 0/8600 2/4406 - - - - - - -
?/? c.511C>T r.(?) p.(Arg171Cys) g.86075066G>A Copied from the Exome Variant Server ST3GAL5_000037 2/13006 0/8600 2/4406 - - - - - - -
?/? c.579C>T r.(=) p.(=) g.86074998G>A Copied from the Exome Variant Server ST3GAL5_000036 57/13006 52/8600 5/4406 - - - - - - -
?/? c.593+17_593+18del r.(=) p.(=) g.86074966_86074967del Copied from the Exome Variant Server ST3GAL5_000035 68/12520 0/8254 68/4266 - - - - - - -
?/? c.593+17_593+19del r.(=) p.(=) g.86074965_86074967del Copied from the Exome Variant Server ST3GAL5_000034 2/12520 0/8254 2/4266 - - - - - - -
?/? c.593+26_593+29del r.(=) p.(=) g.86074955_86074958del Copied from the Exome Variant Server ST3GAL5_000033 57/12520 1/8254 56/4266 - - - - - - -
?/? c.593+40A>G r.(=) p.(=) g.86074944T>C Copied from the Exome Variant Server ST3GAL5_000032 3/13006 2/8600 1/4406 - - - - - - -
?/? c.594-31C>T r.(=) p.(=) g.86073717G>A Copied from the Exome Variant Server ST3GAL5_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.708C>T r.(=) p.(=) g.86073572G>A Copied from the Exome Variant Server ST3GAL5_000030 3/13006 0/8600 3/4406 - - - - - - -
?/? c.731A>C r.(?) p.(Lys244Thr) g.86073549T>G Copied from the Exome Variant Server ST3GAL5_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.735T>C r.(=) p.(=) g.86073545A>G Copied from the Exome Variant Server ST3GAL5_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.780+19A>G r.(=) p.(=) g.86073481T>C Copied from the Exome Variant Server ST3GAL5_000027 55/13004 1/8598 54/4406 - - - - - - -
?/? c.781-33G>A r.(=) p.(=) g.86071710C>T Copied from the Exome Variant Server ST3GAL5_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.781-13T>C r.(=) p.(=) g.86071690A>G Copied from the Exome Variant Server ST3GAL5_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.781-12del r.(=) p.(=) g.86071689del Copied from the Exome Variant Server ST3GAL5_000024 1/12520 1/8254 0/4266 - - - - - - -
?/? c.781-5C>T r.spl? p.? g.86071682G>A Copied from the Exome Variant Server ST3GAL5_000023 69/13006 0/8600 69/4406 - - - - - - -
?/? c.793C>T r.(?) p.(Arg265*) g.86071665G>A Copied from the Exome Variant Server ST3GAL5_000022 2/13006 2/8600 0/4406 - - - - - - -
?/? c.797T>C r.(?) p.(Leu266Pro) g.86071661A>G Copied from the Exome Variant Server ST3GAL5_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.854T>C r.(?) p.(Ile285Thr) g.86071604A>G Copied from the Exome Variant Server ST3GAL5_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.904T>G r.(?) p.(Ser302Ala) g.86071554A>C Copied from the Exome Variant Server ST3GAL5_000019 2/13006 2/8600 0/4406 - - - - - - -
?/? c.931C>T r.(?) p.(Arg311*) g.86071527G>A Copied from the Exome Variant Server ST3GAL5_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.939+12G>C r.(=) p.(=) g.86071507C>G Copied from the Exome Variant Server ST3GAL5_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.939+47G>A r.(=) p.(=) g.86071472C>T Copied from the Exome Variant Server ST3GAL5_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.939+52G>A r.(=) p.(=) g.86071467C>T Copied from the Exome Variant Server ST3GAL5_000015 34/5734 0/3982 34/1752 - - - - - - -
?/? c.955G>T r.(?) p.(Gly319Cys) g.86067500C>A Copied from the Exome Variant Server ST3GAL5_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.966C>T r.(=) p.(=) g.86067489G>A Copied from the Exome Variant Server ST3GAL5_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.967G>A r.(?) p.(Val323Ile) g.86067488C>T Copied from the Exome Variant Server ST3GAL5_000012 2/13006 1/8600 1/4406 - - - - - - -
?/? c.990C>T r.(=) p.(=) g.86067465G>A Copied from the Exome Variant Server ST3GAL5_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1008G>A r.(=) p.(=) g.86067447C>T Copied from the Exome Variant Server ST3GAL5_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1057G>A r.(?) p.(Asp353Asn) g.86067398C>T Copied from the Exome Variant Server ST3GAL5_000009 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1096C>G r.(?) p.(His366Asp) g.86067359G>C Copied from the Exome Variant Server ST3GAL5_000008 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1132C>A r.(?) p.(Leu378Met) g.86067323G>T Copied from the Exome Variant Server ST3GAL5_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1143G>A r.(=) p.(=) g.86067312C>T Copied from the Exome Variant Server ST3GAL5_000006 11/13006 9/8600 2/4406 - - - - - - -
?/? c.1146A>G r.(=) p.(=) g.86067309T>C Copied from the Exome Variant Server ST3GAL5_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1178G>T r.(?) p.(Arg393Leu) g.86067277C>A Copied from the Exome Variant Server ST3GAL5_000004 4/13006 3/8600 1/4406 - - - - - - -
?/? c.*4C>T r.(=) p.(=) g.86067263G>A Copied from the Exome Variant Server ST3GAL5_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*25G>T r.(=) p.(=) g.86067242C>A Copied from the Exome Variant Server ST3GAL5_000002 71/13006 0/8600 71/4406 - - - - - - -
?/? c.*33A>G r.(=) p.(=) g.86067234T>C Copied from the Exome Variant Server ST3GAL5_000001 1/13006 1/8600 0/4406 - - - - - - -
Legend